Chemical: Drug
fluorouracil

Available Prescribing Info

Dosing Guidelines
  1. CPIC Guideline for fluorouracil and DPYD
  2. DPWG Guideline for fluorouracil and DPYD
last updated 07/30/2014

1. CPIC Guideline for fluorouracil and DPYD

Summary

The CPIC Dosing Guidelines for fluoropyrimidines (i.e. 5-fluorouracil, capecitabine or tegafur) recommends an alternative drug for patients who are homozygous for DPYD non-functional variants - *2A (rs3918290), *13 (rs55886062), and rs67376798 A (on the positive chromosomal strand) - as these patients are typically DPD deficient. Consider a 50% reduction in starting dose for heterozygous patients (intermediate activity).

Annotation

May 2014 Update on PharmGKB

December 2013 Publication

Accepted article preview online August 2013; Advance online publication October 2013.

  • Guidelines regarding the use of pharmacogenomic tests in dosing for fluoropyrimidines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC).
  • These guidelines are applicable to:
    • at the time of this writing, there are no data available on the possible role of DPYD*2A, *13, or rs67376798 in 5-fluorouracil toxicities in pediatric patient populations; however, there is no reason to suspect that DPYD variant alleles would affect 5-fluorouracil metabolism differently in children compared to adults.
  • Excerpt from the fluoropyrimidine dosing guideline based on DPYD genotype:
    • "The strength of the dosing recommendations is based on the fact that some variants (DPYD*2A, *13, and rs67376798) clearly affect DPD activity, and DPD activity is clearly related to 5-fluorouracil clearance, and 5-fluorouracil exposure is associated with its toxic effects. Therefore, reduction of fluoropyrimidine dosage in patients with these variants may prevent severe and possibly life-threatening toxicities. However, available evidence does not clearly indicate a degree of dose reduction needed to prevent fluoropyrimidine related toxicities...[Based on literature review (see full manuscript),] our recommendation is to start with at least a 50% reduction of the starting dose followed by an increase in dose in patients experiencing no or clinically tolerable toxicity to maintain efficacy, a decrease in dose in patients who do not tolerate the starting dose to minimize toxicities or pharmacokinetic guided dose adjustments (if available). Patients who are homozygous for DPYD*2A, *13, or rs67376798 may demonstrate complete DPD deficiency and the use of 5-fluorouracil or capecitabine is not recommended in these patients."
  • Download and read:

Adapted from Tables 1 and 2 of the 2013 guideline manuscript.

Phenotype (genotype)Examples of diplotypesImplications for phenotypic measuresDosing recommendationsClassification of recommendationsa
Homozygous wild-type or normal, high DPD activity (two or more functional *1 alleles)*1/*1Normal DPD activity and "normal" risk for fluoropyrimidine toxicityUse label-recommended dosage and administrationModerate
Heterozygous or intermediate activity (~3-5% of patients), may have partial DPD deficiency, at risk for toxicity with drug exposure (one functional allele *1, plus one nonfunctional allele - *2A, *13 or rs67376798Ac)*1/*2A; *1/*13; *1/ rs67376798Ac)Decreased DPD activity (leukocyte DPD activity at 30% to 70% that of the normal population) and increased risk for severe or even fatal drug toxicity when treated with fluoropyrimidine drugsStart with at least a 50% reduction in starting dose followed by titration of dose based on toxicity b or pharmacokinetic test (if available)Moderate
Homozygous variant, DPD deficiency (~0.2% of patients), at risk for toxicity with drug exposure (2 nonfunctional alleles - *2A, *13 or rs67376798A c)*2A/*2A; *13/*13; rs67376798Ac / rs67376798AcComplete DPD deficiency and increased risk for severe or even fatal drug toxicity when treated with fluoropyrimidine drugsSelect alternate drugStrong

a Rating scheme described in 2013 supplement.

b Increase the dose in patients experiencing no or clinically tolerable toxicity to maintain efficacy; decrease the dose in patients who do not tolerate the starting dose to minimize toxicities.

c Note that the rs67376798A allele refers to the allele on the positive chromosomal strand. This is important because DPYD is on the minus chromosomal strand and rs67376798 is a T/A snp. Therefore, the T allele on the gene confers the deficiency, while the complement on the positive chromosomal strand (A allele) is indicative of deficiency.


last updated 08/10/2011

2. DPWG Guideline for fluorouracil and DPYD

Summary

An alternative drug rather than fluorouracil is recommended for DPYD poor metabolizer patients, and a reduced dose (by 50%) of fluorouracil or use of an alternative drug is recommended for intermediate metabolizer patients.

Annotation

The Royal Dutch Pharmacists Association - Pharmacogenetics Working Group has evaluated therapeutic dose recommendations for fluorouracil based on DPYD genotype [Article:21412232]. They recommend that an alternate drug be used for poor metabolizer patients, and a reduced dose or alternate drug for intermediate metabolizer patients.

Phenotype (Genotype)Therapeutic Dose RecommendationLevel of EvidenceClinical Relevance
PM (2 inactive alleles, 2 decreased activity alleles, or one inactive and one decreased activity alleles)Select alterantive drug. Tegafur is not a suitable alternative because this drug is also metabolized by DPD.Published controlled studies of moderate quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints.Clinical effect (S): death; arrhythmia; unanticipated myelosuppression.
IM (1 active allele and 1 inactive or decreased activity allele)Reduce dose by 50% or select alternative drug. Tegafur is not a suitable alternative because this drug is also a substrate for DPD. Increase dose in response to toxicity and efficacy.Published controlled studies of moderate quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints.Clinical effect (S): death; arrhythmia; unanticipated myelosuppression.
Allele TypeAlleles
active*1, *4, *5, *6, *9A
decreased activity*9B, *10
inactive*2A, *3, *7, *8, *11, *12, *13, 496A>G, IVS10-15T>C, 1156G>T, 1845G>T
  • *See Methods or [Article:18253145] for definition of "moderate" quality.
  • S: statistically significant difference.


Annotated Labels

  1. FDA Label for fluorouracil and DPYD
  2. PMDA Label for fluorouracil and DPYD
  3. HCSC Label for fluorouracil and DPYD

last updated 10/25/2013

1. FDA Label for fluorouracil and DPYD

Actionable PGx

Summary

Fluorouracil is available in both a topical cream and as an injection. These two formulations have different indications. Both FDA-approved labels contain information about the potential for severe toxicity in patients with dipyrimidine dehydrogenase (DPD) deficiency. However, neither label mentions testing for genetic variants or activity of DPD.

There's more of this label. Read more.


2. PMDA Label for fluorouracil and DPYD

Actionable PGx

Summary

The PMDA package insert for fluorouracil states that severe adverse events have occurred in patients receiving the drug who are dihydropyrimidine dehydrogenase (DPD)-deficient. DPD is the enzyme responsible for the degradation of fluorouracil and other fluoropyrimidines.

There's more of this label. Read more.


3. HCSC Label for fluorouracil and DPYD

Actionable PGx

Summary

The product monograph for fluorouracil states that it should be used with care in patients who have a dihydropyrimidine dehydrogenase (DYPD) deficiency, due to the risk for experiencing toxicity.

There's more of this label. Read more.


Clinical Variants that meet the highest level of criteria, manually curated by PharmGKB, are shown below.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the page.

Clinical Annotation for rs45445694 (TYMS), capecitabine, fluorouracil, Pyrimidine analogues, tegafur, Colorectal Neoplasms, Neoplasms, Pancreatic Neoplasms and Rectal Neoplasms (level 3 Efficacy, Toxicity/ADR)

Level of Evidence
Level 3
Type
Efficacy, Toxicity/ADR
Variant
rs45445694
Genes
TYMS
Phenotypes
Colorectal Neoplasms, Neoplasms, Pancreatic Neoplasms, Rectal Neoplasms
OMB Race
Mixed Population
Race Notes
White, Asian, Mixed, unknown

To see the rest of this clinical annotation please register or sign in.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Gene" column lead to PharmGKB Gene Pages.

List of all variant annotations for fluorouracil

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
VIP No VIP available No VIP available CYP2A6 *1B1 N/A N/A N/A
No VIP available No VIP available VA CYP3A4 *1B N/A N/A N/A
No VIP available No VIP available VA CYP3A4 *3 N/A N/A N/A
No VIP available CA VA DPYD *1 N/A N/A N/A
No VIP available No VIP available VA DPYD *2A N/A N/A N/A
No VIP available No VIP available VA DPYD *2B N/A N/A N/A
No VIP available No VIP available VA DPYD *4 N/A N/A N/A
No VIP available No VIP available VA DPYD *5 N/A N/A N/A
No VIP available No VIP available VA DPYD *6 N/A N/A N/A
No VIP available No VIP available VA DPYD *9A N/A N/A N/A
No VIP available CA No VIP available DPYD *9B N/A N/A N/A
No VIP available No VIP available VA DPYD *11 N/A N/A N/A
No VIP available CA VA DPYD *12 N/A N/A N/A
No VIP available No VIP available VA DPYD *13 N/A N/A N/A
No VIP available No VIP available VA GSTM1 non-null N/A N/A N/A
No VIP available No VIP available VA GSTM1 null N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *1 N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *6 N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *28 N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *93 N/A N/A N/A
DPYD poor metabolizer N/A N/A N/A
DPYD deficiency N/A N/A N/A
rs10049380 NC_000003.11:g.124487443T>C, NC_000003.12:g.124768596T>C, NM_002213.4:c.2017+417A>G, XM_005247436.1:c.1927+417A>G, XM_005247436.2:c.1927+417A>G, XM_006713630.2:c.1882+417A>G, rs59662485
T > C
SNP
rs10209881 NC_000002.11:g.31246249T>C, NC_000002.12:g.31023383T>C, NM_001253826.1:c.315-57081A>G, NM_001253827.1:c.70-30376A>G, NM_024572.3:c.130-30376A>G, NR_045602.1:n.903-30376A>G, XM_005264559.1:c.25-30376A>G, XM_011533104.1:c.448-30376A>G, XM_011533105.1:c.70-30376A>G, XM_011533106.1:c.43-30376A>G, rs56517291, rs57849618, rs59539437
T > C
SNP
rs1042522 NC_000017.10:g.7579472G=, NC_000017.10:g.7579472G>C, NC_000017.10:g.7579472G>T, NC_000017.11:g.7676154G=, NC_000017.11:g.7676154G>C, NC_000017.11:g.7676154G>T, NG_017013.2:g.16397C=, NG_017013.2:g.16397C>A, NG_017013.2:g.16397C>G, NM_000546.5:c.215C=, NM_000546.5:c.215C>A, NM_000546.5:c.215C>G, NM_001126112.2:c.215C=, NM_001126112.2:c.215C>A, NM_001126112.2:c.215C>G, NM_001126113.2:c.215C=, NM_001126113.2:c.215C>A, NM_001126113.2:c.215C>G, NM_001126114.2:c.215C=, NM_001126114.2:c.215C>A, NM_001126114.2:c.215C>G, NM_001126115.1:c.-939C=, NM_001126115.1:c.-939C>A, NM_001126115.1:c.-939C>G, NM_001126116.1:c.-939C=, NM_001126116.1:c.-939C>A, NM_001126116.1:c.-939C>G, NM_001126117.1:c.-939C=, NM_001126117.1:c.-939C>A, NM_001126117.1:c.-939C>G, NM_001126118.1:c.98C=, NM_001126118.1:c.98C>A, NM_001126118.1:c.98C>G, NM_001276695.1:c.98C=, NM_001276695.1:c.98C>A, NM_001276695.1:c.98C>G, NM_001276696.1:c.98C=, NM_001276696.1:c.98C>A, NM_001276696.1:c.98C>G, NM_001276697.1:c.-1020C=, NM_001276697.1:c.-1020C>A, NM_001276697.1:c.-1020C>G, NM_001276698.1:c.-1020C=, NM_001276698.1:c.-1020C>A, NM_001276698.1:c.-1020C>G, NM_001276699.1:c.-1020C=, NM_001276699.1:c.-1020C>A, NM_001276699.1:c.-1020C>G, NM_001276760.1:c.98C=, NM_001276760.1:c.98C>A, NM_001276760.1:c.98C>G, NM_001276761.1:c.98C=, NM_001276761.1:c.98C>A, NM_001276761.1:c.98C>G, NP_000537.3:p.Pro72=, NP_000537.3:p.Pro72Arg, NP_000537.3:p.Pro72His, NP_001119584.1:p.Pro72=, NP_001119584.1:p.Pro72Arg, NP_001119584.1:p.Pro72His, NP_001119585.1:p.Pro72=, NP_001119585.1:p.Pro72Arg, NP_001119585.1:p.Pro72His, NP_001119586.1:p.Pro72=, NP_001119586.1:p.Pro72Arg, NP_001119586.1:p.Pro72His, NP_001119590.1:p.Pro33=, NP_001119590.1:p.Pro33Arg, NP_001119590.1:p.Pro33His, NP_001263624.1:p.Pro33=, NP_001263624.1:p.Pro33Arg, NP_001263624.1:p.Pro33His, NP_001263625.1:p.Pro33=, NP_001263625.1:p.Pro33Arg, NP_001263625.1:p.Pro33His, NP_001263689.1:p.Pro33=, NP_001263689.1:p.Pro33Arg, NP_001263689.1:p.Pro33His, NP_001263690.1:p.Pro33=, NP_001263690.1:p.Pro33Arg, NP_001263690.1:p.Pro33His, XM_005256778.1:c.176-21C=, XM_005256778.1:c.176-21C>A, XM_005256778.1:c.176-21C>G, XR_243565.1:n.354C=, XR_243565.1:n.354C>A, XR_243565.1:n.354C>G, XR_243566.1:n.354C=, XR_243566.1:n.354C>A, XR_243566.1:n.354C>G, rs17844988, rs17857747, rs17882155, rs2229076, rs3174747, rs4134781, rs60388830
G > C
SNP
P72R
rs10434 NC_000006.11:g.43753212A>G, NC_000006.12:g.43785475A>G, NG_008732.1:g.20260A>G, NM_001025366.2:c.*913A>G, NM_001025367.2:c.*913A>G, NM_001025368.2:c.*913A>G, NM_001025369.2:c.*929A>G, NM_001025370.2:c.*913A>G, NM_001033756.2:c.*847A>G, NM_001171622.1:c.*913A>G, NM_001171623.1:c.*913A>G, NM_001171624.1:c.*913A>G, NM_001171625.1:c.*913A>G, NM_001171626.1:c.*913A>G, NM_001171627.1:c.*929A>G, NM_001171628.1:c.*913A>G, NM_001171629.1:c.*847A>G, NM_001171630.1:c.*913A>G, NM_001204384.1:c.*913A>G, NM_001204385.1:c.*913A>G, NM_001287044.1:c.*913A>G, NM_001317010.1:c.*847A>G, NM_003376.5:c.*913A>G, XM_005249363.1:c.*913A>G, rs3173233, rs60316096
A > G
SNP
rs1045642 NC_000007.13:g.87138645A>G, NC_000007.14:g.87509329A>G, NG_011513.1:g.208920T>C, NM_000927.4:c.3435T>C, NP_000918.2:p.Ile1145=, rs10239679, rs11568726, rs117328163, rs17210003, rs2229108, rs386513066, rs60023214, rs9690664
A > G
SNP
I1145I
rs1047840 NC_000001.10:g.242042301G>A, NC_000001.11:g.241878999G>A, NG_029100.1:g.35809G>A, NM_001319224.1:c.1762G>A, NM_003686.4:c.1765G>A, NM_006027.4:c.1765G>A, NM_130398.3:c.1765G>A, NP_001306153.1:p.Glu588Lys, NP_003677.4:p.Glu589Lys, NP_006018.4:p.Glu589Lys, NP_569082.2:p.Glu589Lys, XM_005273350.1:c.1762G>A, XM_005273350.2:c.1762G>A, XM_006711840.1:c.1765G>A, XM_011544321.1:c.1765G>A, XM_011544322.1:c.1765G>A, XM_011544323.1:c.1762G>A, XM_011544324.1:c.1645G>A, XM_011544325.1:c.802G>A, XM_011544326.1:c.*224G>A, XP_005273407.1:p.Glu588Lys, XP_006711903.1:p.Glu589Lys, XP_011542623.1:p.Glu589Lys, XP_011542624.1:p.Glu589Lys, XP_011542625.1:p.Glu588Lys, XP_011542626.1:p.Glu549Lys, XP_011542627.1:p.Glu268Lys, XR_949162.1:n.2350G>A, rs12734501, rs16842258, rs3187846, rs52829990, rs56561721, rs59734256
G > A
SNP
E588K
rs1051266 NC_000021.8:g.46957794T>C, NC_000021.9:g.45537880T>C, NG_028278.1:g.9592A>G, NM_001205206.1:c.80A>G, NM_194255.2:c.80A>G, NP_001192135.1:p.His27Arg, NP_919231.1:p.His27Arg, XM_005261163.1:c.80A>G, XM_005261164.1:c.-279A>G, XM_005261164.2:c.-279A>G, XM_011529696.1:c.371A>G, XM_011529697.1:c.371A>G, XM_011529698.1:c.146A>G, XM_011529699.1:c.-1639A>G, XM_011529700.1:c.80A>G, XM_011529701.1:c.80A>G, XM_011529702.1:c.80A>G, XM_011529703.1:c.80A>G, XM_011529704.1:c.80A>G, XM_011529705.1:c.371A>G, XM_011529707.1:c.371A>G, XM_011529708.1:c.80A>G, XM_011529709.1:c.-279A>G, XM_011529710.1:c.-165-5732A>G, XP_005261220.1:p.His27Arg, XP_011527998.1:p.His124Arg, XP_011527999.1:p.His124Arg, XP_011528000.1:p.His49Arg, XP_011528002.1:p.His27Arg, XP_011528003.1:p.His27Arg, XP_011528004.1:p.His27Arg, XP_011528005.1:p.His27Arg, XP_011528006.1:p.His27Arg, XP_011528007.1:p.His124Arg, XP_011528009.1:p.His124Arg, XP_011528010.1:p.His27Arg, rs17844977, rs17857726, rs3171496, rs386514057, rs61510559
T > C
SNP
H27R
rs10517 NC_000016.10:g.69709857A>G, NC_000016.9:g.69743760A>G, NG_011504.1:g.21774T>C, NM_000903.2:c.*1119T>C, NM_001025433.1:c.*1119T>C, NM_001025434.1:c.*1119T>C, NM_001286137.1:c.*1119T>C, XM_005255830.1:c.*1119T>C, rs1131357, rs3191227, rs386514164, rs60683463
A > G
SNP
rs1056515 NC_000001.10:g.163113260G>T, NC_000001.11:g.163143470G>T, NG_027731.2:g.183322C>A, NM_001195303.2:c.*3872C>A, NM_001254748.1:c.*3872C>A, NM_001254749.1:c.*3872C>A, NM_003617.3:c.*3872C>A, rs111183181, rs386514407, rs58775087, rs59069797
G > T
SNP
rs1056836 NC_000002.11:g.38298203C>G, NC_000002.12:g.38071060G=, NG_008386.2:g.10042C=, NG_008386.2:g.10042C>G, NM_000104.3:c.1294C=, NM_000104.3:c.1294C>G, NP_000095.2:p.Leu432=, NP_000095.2:p.Leu432Val, rs17405323, rs3731848, rs52802961, rs59494749
C > G
SNP
L432V
rs1059829 NC_000005.10:g.151662468G>A, NC_000005.9:g.151042029G>A, NG_042174.1:g.29587C>T, NM_001309443.1:c.*1103C>T, NM_001309444.1:c.*987C>T, NM_003118.3:c.*1103C>T, rs17718221, rs1804457, rs3210713, rs3822701, rs59831535
G > A
SNP
rs1063320 NC_000006.11:g.29798749C=, NC_000006.11:g.29798749C>G, NC_000006.12:g.29830972C=, NC_000006.12:g.29830972C>G, NG_029039.1:g.8994C=, NG_029039.1:g.8994C>G, NM_002127.5:c.*233C=, NM_002127.5:c.*233C>G, NT_113891.3:g.1314548G=, NT_113891.3:g.1314548G>C, NT_167244.2:g.1096598G=, NT_167244.2:g.1096598G>C, NT_167245.1:g.1099370C=, NT_167245.1:g.1099370C>G, NT_167245.2:g.1093785C=, NT_167245.2:g.1093785C>G, NT_167246.1:g.1099078C=, NT_167246.1:g.1099078C>G, NT_167246.2:g.1093458C=, NT_167246.2:g.1093458C>G, NT_167247.1:g.1099028C=, NT_167247.1:g.1099028C>G, NT_167247.2:g.1093443C=, NT_167247.2:g.1093443C>G, NT_167248.2:g.1093752G=, NT_167248.2:g.1093752G>C, NT_167249.2:g.1137017G=, NT_167249.2:g.1137017G>C, XM_005249055.1:c.*233C=, XM_005249055.1:c.*233C>G, XM_005249056.1:c.*233C>G, XM_005249056.1:c.*233G>C, XM_005249057.1:c.*448C>G, XM_005249057.1:c.*448G>C, XM_005249058.1:c.*233C=, XM_005249058.1:c.*233C>G, XM_005272810.1:c.*247G=, XM_005272810.1:c.*247G>C, XM_005274964.1:c.*233C=, XM_005274964.1:c.*233C>G, XM_005274965.1:c.*233C=, XM_005274965.1:c.*233C>G, XM_005274966.1:c.*448C>G, XM_005274966.1:c.*448G>C, XM_005274967.1:c.*233C=, XM_005274967.1:c.*233C>G, XM_005275119.1:c.*233C=, XM_005275119.1:c.*233C>G, XM_005275120.1:c.*233C>G, XM_005275120.1:c.*233G>C, XM_005275121.1:c.*448C>G, XM_005275121.1:c.*448G>C, XM_005275122.1:c.*233C>G, XM_005275122.1:c.*233G>C, XM_005275246.1:c.*233C=, XM_005275246.1:c.*233C>G, XM_005275247.1:c.*233C=, XM_005275247.1:c.*233C>G, XM_005275248.1:c.*448C>G, XM_005275248.1:c.*448G>C, XM_005275249.1:c.*233C=, XM_005275249.1:c.*233C>G, XM_005275394.1:c.*247G=, XM_005275394.1:c.*247G>C, XM_005275549.1:c.*247G=, XM_005275549.1:c.*247G>C, XM_005275550.1:c.*247C>G, XM_005275550.1:c.*247G>C, XM_005275551.1:c.*462C>G, XM_005275551.1:c.*462G>C, XM_005275552.1:c.*247G=, XM_005275552.1:c.*247G>C, XM_011547651.1:c.*233C=, XM_011547651.1:c.*233C>G, XM_011547882.1:c.*233C=, XM_011547882.1:c.*233C>G, XM_011548048.1:c.*233C=, XM_011548048.1:c.*233C>G, XM_011548236.1:c.*247G=, XM_011548236.1:c.*247G>C, XM_011548237.1:c.*247G=, XM_011548237.1:c.*247G>C, XM_011548430.1:c.*247G=, XM_011548430.1:c.*247G>C, XM_011548431.1:c.*247G=, XM_011548431.1:c.*247G>C, XR_241896.1:n.1859C=, XR_241896.1:n.1859C>G, XR_246963.1:n.1793G=, XR_246963.1:n.1793G>C, XR_247353.1:n.1859C=, XR_247353.1:n.1859C>G, XR_247370.1:n.1859C=, XR_247370.1:n.1859C>G, XR_247389.1:n.1859C=, XR_247389.1:n.1859C>G, XR_247402.1:n.1793G=, XR_247402.1:n.1793G>C, XR_247423.1:n.1851G=, XR_247423.1:n.1851G>C, rs115928989, rs117512550, rs1632929, rs16867727, rs17185496, rs3204385, rs386485817, rs58677621, rs9258500
C > C
C > G
SNP
rs10784749 NC_000012.11:g.69422029C>G, NC_000012.12:g.69028249C>G, rs58473609
C > G
SNP
rs10876844 NC_000012.11:g.56050706C>A, NC_000012.12:g.55656922C>A, XM_011538339.1:c.-700+2791G>T, rs61345690
C > A
SNP
rs10937158 NC_000003.11:g.183708439T>C, NC_000003.12:g.183990651T>C, NM_001023587.2:c.130-1268A>G, NM_001320032.1:c.-1402-1268A>G, NM_005688.3:c.130-1268A>G, NR_135125.1:n.316-1268A>G, XM_005247058.1:c.130-1268A>G, XM_005247058.3:c.130-1268A>G, XM_005247059.1:c.130-1268A>G, XM_005247059.3:c.130-1268A>G, XM_005247060.1:c.130-1268A>G, XM_005247061.1:c.130-1268A>G, XM_005247062.1:c.-1402-1268A>G, XM_011512314.1:c.130-1268A>G, XM_011512315.1:c.130-1268A>G, XM_011512316.1:c.-1402-1268A>G
T > C
SNP
rs111858276 NC_000001.10:g.98015156T>C, NC_000001.11:g.97549600T>C, NG_008807.2:g.376460A>G, NM_000110.3:c.1484A>G, NP_000101.2:p.Asp495Gly, XM_005270561.1:c.1373A>G, XM_005270562.1:c.1484A>G, XM_005270562.3:c.1484A>G, XM_005270563.1:c.1484A>G, XM_005270564.1:c.1484A>G, XM_006710397.2:c.1484A>G, XP_005270618.1:p.Asp458Gly, XP_005270619.1:p.Asp495Gly, XP_005270619.2:p.Asp495Gly, XP_005270620.1:p.Asp495Gly, XP_005270621.1:p.Asp495Gly, XP_006710460.1:p.Asp495Gly
T > C
SNP
D495G
rs112445441 NC_000012.11:g.25398281C>A, NC_000012.11:g.25398281C>G, NC_000012.11:g.25398281C>T, NC_000012.12:g.25245347C>A, NC_000012.12:g.25245347C>G, NC_000012.12:g.25245347C>T, NG_007524.1:g.10574G>A, NG_007524.1:g.10574G>C, NG_007524.1:g.10574G>T, NM_004985.4:c.38G>A, NM_004985.4:c.38G>C, NM_004985.4:c.38G>T, NM_033360.3:c.38G>A, NM_033360.3:c.38G>C, NM_033360.3:c.38G>T, NP_004976.2:p.Gly13Ala, NP_004976.2:p.Gly13Asp, NP_004976.2:p.Gly13Val, NP_203524.1:p.Gly13Ala, NP_203524.1:p.Gly13Asp, NP_203524.1:p.Gly13Val, XM_005253365.1:c.38G>A, XM_005253365.1:c.38G>C, XM_005253365.1:c.38G>T, XM_006719069.2:c.38G>A, XM_006719069.2:c.38G>C, XM_006719069.2:c.38G>T, XM_011520653.1:c.38G>A, XM_011520653.1:c.38G>C, XM_011520653.1:c.38G>T, XP_005253422.1:p.Gly13Ala, XP_005253422.1:p.Gly13Asp, XP_005253422.1:p.Gly13Val, XP_006719132.1:p.Gly13Ala, XP_006719132.1:p.Gly13Asp, XP_006719132.1:p.Gly13Val, XP_011518955.1:p.Gly13Ala, XP_011518955.1:p.Gly13Asp, XP_011518955.1:p.Gly13Val
C > A
C > G
C > T
SNP
G13A/D/V
rs112723255 NC_000022.10:g.50964255C>T, NC_000022.11:g.50525826C>T, NG_011860.1:g.9260G>A, NG_016235.1:g.5614G>A, NG_021419.1:g.22611C>T, NM_001113755.2:c.1393G>A, NM_001113756.2:c.1393G>A, NM_001169109.1:c.-14+420G>A, NM_001169110.1:c.-14+175G>A, NM_001169111.1:c.-398G>A, NM_001257988.1:c.1393G>A, NM_001257989.1:c.1408G>A, NM_001953.4:c.1393G>A, NM_005138.2:c.-368G>A, NP_001107227.1:p.Ala465Thr, NP_001107228.1:p.Ala465Thr, NP_001244917.1:p.Ala465Thr, NP_001244918.1:p.Ala470Thr, NP_001944.1:p.Ala465Thr
C > T
SNP
A465T
rs1127648 NC_000015.10:g.75674754A>G, NC_000015.9:g.75967095A>G, NM_001897.4:c.*796T>C, rs17591523, rs3183827, rs59364090
A > G
SNP
rs112766203 NC_000001.10:g.97770835G>A, NC_000001.10:g.97770835G>C, NC_000001.11:g.97305279G>A, NC_000001.11:g.97305279G>C, NG_008807.2:g.620781C>G, NG_008807.2:g.620781C>T, NM_000110.3:c.2279C>G, NM_000110.3:c.2279C>T, NP_000101.2:p.Thr760Ile, NP_000101.2:p.Thr760Ser, NR_046590.1:n.129-910G>A, NR_046590.1:n.129-910G>C, XM_005270561.1:c.2168C>G, XM_005270561.1:c.2168C>T, XM_005270562.1:c.2063C>G, XM_005270562.1:c.2063C>T, XM_005270562.3:c.2063C>G, XM_005270562.3:c.2063C>T, XM_005270563.1:c.2279C>G, XM_005270563.1:c.2279C>T, XM_006710397.2:c.2279C>G, XM_006710397.2:c.2279C>T, XP_005270618.1:p.Thr723Ile, XP_005270618.1:p.Thr723Ser, XP_005270619.1:p.Thr688Ile, XP_005270619.1:p.Thr688Ser, XP_005270619.2:p.Thr688Ile, XP_005270619.2:p.Thr688Ser, XP_005270620.1:p.Thr760Ile, XP_005270620.1:p.Thr760Ser, XP_006710460.1:p.Thr760Ile, XP_006710460.1:p.Thr760Ser
G > A
G > C
SNP
T760I/S
rs1128503 NC_000007.13:g.87179601A>G, NC_000007.14:g.87550285A>G, NG_011513.1:g.167964T>C, NM_000927.4:c.1236T>C, NP_000918.2:p.Gly412=, rs116989428, rs17276907, rs2032587, rs2229105, rs28365046, rs386518005, rs58257317
A > G
SNP
G412G
rs1138272 NC_000011.10:g.67586108C>T, NC_000011.9:g.67353579C>T, NG_012075.1:g.7514C>T, NM_000852.3:c.341C>T, NP_000843.1:p.Ala114Val, XM_005273958.1:c.338C>T, XP_005274015.1:p.Ala113Val, rs11553894, rs17434783, rs1799811, rs1804665, rs3202011, rs4134657, rs52800258, rs61323549
C > T
SNP
A114V
rs114096998 NC_000001.10:g.97544543G>A, NC_000001.10:g.97544543G>C, NC_000001.10:g.97544543G>T, NC_000001.11:g.97078987G>A, NC_000001.11:g.97078987G>C, NC_000001.11:g.97078987G>T, NG_008807.2:g.847073C>A, NG_008807.2:g.847073C>G, NG_008807.2:g.847073C>T, NM_000110.3:c.3067C>A, NM_000110.3:c.3067C>G, NM_000110.3:c.3067C>T, NP_000101.2:p.Pro1023Ala, NP_000101.2:p.Pro1023Ser, NP_000101.2:p.Pro1023Thr, XM_005270561.1:c.2956C>A, XM_005270561.1:c.2956C>G, XM_005270561.1:c.2956C>T, XM_005270562.1:c.2851C>A, XM_005270562.1:c.2851C>G, XM_005270562.1:c.2851C>T, XM_005270562.3:c.2851C>A, XM_005270562.3:c.2851C>G, XM_005270562.3:c.2851C>T, XP_005270618.1:p.Pro986Ala, XP_005270618.1:p.Pro986Ser, XP_005270618.1:p.Pro986Thr, XP_005270619.1:p.Pro951Ala, XP_005270619.1:p.Pro951Ser, XP_005270619.1:p.Pro951Thr, XP_005270619.2:p.Pro951Ala, XP_005270619.2:p.Pro951Ser, XP_005270619.2:p.Pro951Thr, rs199469566
G > A
G > C
G > T
SNP
P1023A/S/T
rs11479 NC_000022.10:g.50964236G>A, NC_000022.11:g.50525807G>A, NG_011860.1:g.9279C>T, NG_016235.1:g.5633C>T, NG_021419.1:g.22592G>A, NM_001113755.2:c.1412C>T, NM_001113756.2:c.1412C>T, NM_001169109.1:c.-14+439C>T, NM_001169110.1:c.-14+194C>T, NM_001169111.1:c.-379C>T, NM_001257988.1:c.1412C>T, NM_001257989.1:c.1427C>T, NM_001953.4:c.1412C>T, NM_005138.2:c.-349C>T, NP_001107227.1:p.Ser471Leu, NP_001107228.1:p.Ser471Leu, NP_001244917.1:p.Ser471Leu, NP_001244918.1:p.Ser476Leu, NP_001944.1:p.Ser471Leu, rs17846490, rs17859554, rs3202233, rs3829983
G > A
SNP
S471L
rs115232898 NC_000001.10:g.98165030T>C, NC_000001.11:g.97699474T>C, NG_008807.2:g.226586A>G, NM_000110.3:c.557A>G, NP_000101.2:p.Tyr186Cys, XM_005270561.1:c.446A>G, XM_005270562.1:c.557A>G, XM_005270562.3:c.557A>G, XM_005270563.1:c.557A>G, XM_005270564.1:c.557A>G, XM_006710397.2:c.557A>G, XP_005270618.1:p.Tyr149Cys, XP_005270619.1:p.Tyr186Cys, XP_005270619.2:p.Tyr186Cys, XP_005270620.1:p.Tyr186Cys, XP_005270621.1:p.Tyr186Cys, XP_006710460.1:p.Tyr186Cys, rs199469520
T > C
SNP
Y186C
rs115349832
A > C
A > G
SNP
rs115632870 NC_000001.10:g.98293821C>T, NC_000001.11:g.97828265C>T, NG_008807.2:g.97795G>A, NM_000110.3:c.151-69G>A, NM_001160301.1:c.151-69G>A, XM_005270561.1:c.40-69G>A, XM_005270562.1:c.151-69G>A, XM_005270562.3:c.151-69G>A, XM_005270563.1:c.151-69G>A, XM_005270564.1:c.151-69G>A, XM_006710397.2:c.151-69G>A, rs199469511
C > T
SNP
rs11615 NC_000019.10:g.45420395A>G, NC_000019.9:g.45923653A>G, NG_015839.2:g.63434T>C, NM_001166049.1:c.354T>C, NM_001983.3:c.354T>C, NM_202001.2:c.354T>C, NP_001159521.1:p.Asn118=, NP_001974.1:p.Asn118=, NP_973730.1:p.Asn118=, XM_005258634.1:c.354T>C, XM_005258635.1:c.354T>C, XM_005258635.2:c.354T>C, XM_005258636.1:c.354T>C, XM_005258636.3:c.354T>C, XM_005258637.1:c.354T>C, XM_005258638.1:c.138T>C, XM_011526610.1:c.354T>C, XP_005258691.1:p.Asn118=, XP_005258692.1:p.Asn118=, XP_005258693.1:p.Asn118=, XP_005258694.1:p.Asn118=, XP_005258695.1:p.Asn46=, XP_011524912.1:p.Asn118=, rs1130005, rs17285882, rs17359303, rs17845191, rs17858003, rs17859564, rs2228629, rs3177700, rs3188446, rs3752251, rs59923575
A > G
SNP
N118N
rs11671784 NC_000019.10:g.13836482G>A, NC_000019.9:g.13947296G>A, NR_029495.1:n.178C>T, NR_029497.1:n.-123C>T, NR_029501.1:n.36C>T, NR_036515.1:n.-193C>T
G > A
SNP
rs12613732 NC_000002.11:g.31249427T>G, NC_000002.12:g.31026561T>G, NM_001253826.1:c.315-60259A>C, NM_001253827.1:c.70-33554A>C, NM_024572.3:c.130-33554A>C, NR_045602.1:n.903-33554A>C, XM_005264559.1:c.25-33554A>C, XM_011533104.1:c.448-33554A>C, XM_011533105.1:c.70-33554A>C, XM_011533106.1:c.43-33554A>C, rs17393634, rs56739826, rs58514179
T > G
SNP
rs12659 NC_000021.8:g.46951556A>G, NC_000021.9:g.45531642A>G, NG_028278.1:g.15830T>C, NM_001205206.1:c.696T>C, NM_001205207.1:c.576T>C, NM_194255.2:c.696T>C, NP_001192135.1:p.Pro232=, NP_001192136.1:p.Pro192=, NP_919231.1:p.Pro232=, XM_005261163.1:c.696T>C, XM_005261164.1:c.342T>C, XM_005261164.2:c.342T>C, XM_011529696.1:c.987T>C, XM_011529697.1:c.987T>C, XM_011529698.1:c.762T>C, XM_011529699.1:c.723T>C, XM_011529700.1:c.696T>C, XM_011529701.1:c.696T>C, XM_011529702.1:c.696T>C, XM_011529703.1:c.696T>C, XM_011529704.1:c.696T>C, XM_011529705.1:c.987T>C, XM_011529706.1:c.558T>C, XM_011529707.1:c.987T>C, XM_011529708.1:c.696T>C, XM_011529709.1:c.342T>C, XM_011529710.1:c.342T>C, XP_005261220.1:p.Pro232=, XP_005261221.1:p.Pro114=, XP_011527998.1:p.Pro329=, XP_011527999.1:p.Pro329=, XP_011528000.1:p.Pro254=, XP_011528001.1:p.Pro241=, XP_011528002.1:p.Pro232=, XP_011528003.1:p.Pro232=, XP_011528004.1:p.Pro232=, XP_011528005.1:p.Pro232=, XP_011528006.1:p.Pro232=, XP_011528007.1:p.Pro329=, XP_011528008.1:p.Pro186=, XP_011528009.1:p.Pro329=, XP_011528010.1:p.Pro232=, XP_011528011.1:p.Pro114=, XP_011528012.1:p.Pro114=, rs17844976, rs17857725, rs3171495
A > G
SNP
P232P
rs12999804 NC_000002.11:g.31245650A>T, NC_000002.12:g.31022784A>T, NM_001253826.1:c.315-56482T>A, NM_001253827.1:c.70-29777T>A, NM_024572.3:c.130-29777T>A, NR_045602.1:n.903-29777T>A, XM_005264559.1:c.25-29777T>A, XM_011533104.1:c.448-29777T>A, XM_011533105.1:c.70-29777T>A, XM_011533106.1:c.43-29777T>A, rs58546060, rs59591816
A > T
SNP
rs13181 NC_000019.10:g.45351661T>G, NC_000019.9:g.45854919T>G, NG_007067.2:g.23927A>C, NM_000400.3:c.2251A>C, NM_177417.2:c.*304T>G, NP_000391.1:p.Lys751Gln, XM_005258536.1:c.*128T>G, XM_005258536.3:c.*128T>G, XM_005258537.1:c.*128T>G, XM_005258538.1:c.*304T>G, XM_005258539.1:c.*304T>G, XM_005258639.1:c.2179A>C, XM_005258640.1:c.2017A>C, XM_005258641.1:c.1513A>C, XM_011526611.1:c.2173A>C, XP_005258696.1:p.Lys727Gln, XP_005258697.1:p.Lys673Gln, XP_005258698.1:p.Lys505Gln, XP_011524913.1:p.Lys725Gln, rs1052559, rs17285142, rs17355147, rs17359310, rs3170171, rs3859422, rs60606175
T > G
SNP
K751Q
rs137999090 NC_000001.10:g.97839154C>T, NC_000001.11:g.97373598C>T, NG_008807.2:g.552462G>A, NM_000110.3:c.2021G>A, NP_000101.2:p.Gly674Asp, XM_005270561.1:c.1910G>A, XM_005270562.1:c.1805G>A, XM_005270562.3:c.1805G>A, XM_005270563.1:c.2021G>A, XM_006710397.2:c.2021G>A, XP_005270618.1:p.Gly637Asp, XP_005270619.1:p.Gly602Asp, XP_005270619.2:p.Gly602Asp, XP_005270620.1:p.Gly674Asp, XP_006710460.1:p.Gly674Asp, XR_947619.1:n.1125-1930C>T, XR_947620.1:n.1124+6397C>T, XR_947621.1:n.1125-1930C>T
C > T
SNP
G674D
rs138391898
C > T
SNP
V507I
rs138545885
C > A
SNP
A664S
rs138616379 NC_000001.10:g.97915745C>T, NC_000001.11:g.97450189C>T, NG_008807.2:g.475871G>A, NM_000110.3:c.1775G>A, NP_000101.2:p.Arg592Gln, XM_005270561.1:c.1664G>A, XM_005270562.1:c.1559G>A, XM_005270562.3:c.1559G>A, XM_005270563.1:c.1775G>A, XM_006710397.2:c.1775G>A, XP_005270618.1:p.Arg555Gln, XP_005270619.1:p.Arg520Gln, XP_005270619.2:p.Arg520Gln, XP_005270620.1:p.Arg592Gln, XP_006710460.1:p.Arg592Gln
C > T
SNP
R592Q
rs139459586
A > C
SNP
L993R
rs139834141
C > T
SNP
M166I
rs140114515
C > T
SNP
V1017I
rs140602333
G > A
G > T
SNP
R394R/W
rs141044036 NC_000001.10:g.97547921T>C, NC_000001.11:g.97082365T>C, NG_008807.2:g.843695A>G, NM_000110.3:c.2872A>G, NP_000101.2:p.Lys958Glu, XM_005270561.1:c.2761A>G, XM_005270562.1:c.2656A>G, XM_005270562.3:c.2656A>G, XP_005270618.1:p.Lys921Glu, XP_005270619.1:p.Lys886Glu, XP_005270619.2:p.Lys886Glu
T > C
SNP
K958E
rs141462178
T > C
SNP
M115V
rs142512579
C > T
SNP
D432N
rs142619737
C > G
C > T
SNP
G539R
rs143154602 NC_000001.10:g.98058845G>A, NC_000001.11:g.97593289G>A, NG_008807.2:g.332771C>T, NM_000110.3:c.1057C>T, NP_000101.2:p.Arg353Cys, XM_005270561.1:c.946C>T, XM_005270562.1:c.1057C>T, XM_005270562.3:c.1057C>T, XM_005270563.1:c.1057C>T, XM_005270564.1:c.1057C>T, XM_006710397.2:c.1057C>T, XP_005270618.1:p.Arg316Cys, XP_005270619.1:p.Arg353Cys, XP_005270619.2:p.Arg353Cys, XP_005270620.1:p.Arg353Cys, XP_005270621.1:p.Arg353Cys, XP_006710460.1:p.Arg353Cys
G > A
SNP
R353C
rs143815742
C > A
C > T
SNP
R394L/Q
rs143986398 NC_000001.10:g.98205995G>C, NC_000001.11:g.97740439G>C, NG_008807.2:g.185621C>G, NM_000110.3:c.274C>G, NM_001160301.1:c.274C>G, NP_000101.2:p.Pro92Ala, NP_001153773.1:p.Pro92Ala, XM_005270561.1:c.163C>G, XM_005270562.1:c.274C>G, XM_005270562.3:c.274C>G, XM_005270563.1:c.274C>G, XM_005270564.1:c.274C>G, XM_006710397.2:c.274C>G, XP_005270618.1:p.Pro55Ala, XP_005270619.1:p.Pro92Ala, XP_005270619.2:p.Pro92Ala, XP_005270620.1:p.Pro92Ala, XP_005270621.1:p.Pro92Ala, XP_006710460.1:p.Pro92Ala
G > C
SNP
P92A
rs144395748
G > C
G > T
SNP
P453R
rs145112791
G > A
SNP
L312F
rs145529148
T > C
SNP
Q972R
rs145548112
C > T
SNP
A721T
rs145773863 NC_000001.10:g.97915743C>T, NC_000001.11:g.97450187C>T, NG_008807.2:g.475873G>A, NM_000110.3:c.1777G>A, NP_000101.2:p.Gly593Arg, XM_005270561.1:c.1666G>A, XM_005270562.1:c.1561G>A, XM_005270562.3:c.1561G>A, XM_005270563.1:c.1777G>A, XM_006710397.2:c.1777G>A, XP_005270618.1:p.Gly556Arg, XP_005270619.1:p.Gly521Arg, XP_005270619.2:p.Gly521Arg, XP_005270620.1:p.Gly593Arg, XP_006710460.1:p.Gly593Arg
C > T
SNP
G593R
rs146356975 NC_000001.10:g.98060705T>C, NC_000001.11:g.97595149T>C, NG_008807.2:g.330911A>G, NM_000110.3:c.868A>G, NP_000101.2:p.Lys290Glu, XM_005270561.1:c.757A>G, XM_005270562.1:c.868A>G, XM_005270562.3:c.868A>G, XM_005270563.1:c.868A>G, XM_005270564.1:c.868A>G, XM_006710397.2:c.868A>G, XP_005270618.1:p.Lys253Glu, XP_005270619.1:p.Lys290Glu, XP_005270619.2:p.Lys290Glu, XP_005270620.1:p.Lys290Glu, XP_005270621.1:p.Lys290Glu, XP_006710460.1:p.Lys290Glu
T > C
SNP
K290E
rs146529561
G > A
SNP
A729V
rs147545709 NC_000001.10:g.97564155G>A, NC_000001.11:g.97098599G>A, NG_008807.2:g.827461C>T, NM_000110.3:c.2656C>T, NP_000101.2:p.Arg886Cys, NR_046590.1:n.64+2613G>A, XM_005270561.1:c.2545C>T, XM_005270562.1:c.2440C>T, XM_005270562.3:c.2440C>T, XP_005270618.1:p.Arg849Cys, XP_005270619.1:p.Arg814Cys, XP_005270619.2:p.Arg814Cys
G > A
SNP
R886C
rs147601618 NC_000001.10:g.97915724A>G, NC_000001.11:g.97450168A>G, NG_008807.2:g.475892T>C, NM_000110.3:c.1796T>C, NP_000101.2:p.Met599Thr, XM_005270561.1:c.1685T>C, XM_005270562.1:c.1580T>C, XM_005270562.3:c.1580T>C, XM_005270563.1:c.1796T>C, XM_006710397.2:c.1796T>C, XP_005270618.1:p.Met562Thr, XP_005270619.1:p.Met527Thr, XP_005270619.2:p.Met527Thr, XP_005270620.1:p.Met599Thr, XP_006710460.1:p.Met599Thr
A > G
SNP
M599T
rs148799944
C > G
SNP
V1021L
rs148994843
C > T
SNP
V515I
rs150036960
G > C
SNP
L16V
rs150385342
C > A
C > T
SNP
A105S
rs150437414
A > G
SNP
L310S
rs151264360 NC_000018.10:g.673444_673449delTTAAAG, NC_000018.9:g.673444_673449delTTAAAG, NG_028255.1:g.20841_20846delTTAAAG, NM_001071.2:c.*447_*452delTTAAAG, NM_001126123.3:c.*145-373_*145-368del, NM_001126123.3:c.*145-373_*145-368delCTTTAA, NM_001318759.1:c.*145-373_*145-368del, NM_001318759.1:c.*145-373_*145-368delCTTTAA, NM_001318760.1:c.*446+410_*446+415delCTTTAA, NM_001318760.1:c.*856_*861del, NM_017512.5:c.*856_*861delCTTTAA, NM_202758.3:c.*856_*861delCTTTAA, XM_005258111.1:c.*856_*861delCTTTAA, XM_005258112.1:c.*856_*861delCTTTAA, XM_005258113.1:c.*856_*861delCTTTAA, XM_005258114.1:c.*856_*861delCTTTAA, XM_005258115.1:c.*856_*861delCTTTAA, XM_005258116.1:c.*856_*861delCTTTAA, XM_005258117.1:c.*856_*861delCTTTAA, XM_005258118.1:c.*856_*861delCTTTAA, XM_005258118.2:c.*856_*861del, XM_005258120.1:c.*856_*861delCTTTAA, XM_005258137.1:c.*447_*452delTTAAAG, XM_005258138.1:c.*447_*452delTTAAAG, XM_011525677.1:c.*856_*861del, XM_011525678.1:c.*856_*861del, XM_011525679.1:c.*856_*861del, XM_011525680.1:c.*856_*861del, XM_011525681.1:c.*856_*861del, XM_011525682.1:c.*856_*861del, XM_011525683.1:c.*856_*861del, XM_011525684.1:c.*856_*861del, XM_011525685.1:c.*856_*861del, XM_011525686.1:c.*856_*861del, XM_011525687.1:c.*856_*861del, XM_011525688.1:c.*856_*861del, XM_011525689.1:c.*856_*861del, XM_011525690.1:c.*856_*861del, XM_011525691.1:c.*856_*861del, XM_011525692.1:c.*856_*861del, XM_011525693.1:c.*856_*861del, XM_011525694.1:c.*856_*861del, XM_011525695.1:c.*856_*861del, XM_011525696.1:c.*856_*861del, XM_011525697.1:c.*856_*861del, XM_011525698.1:c.*856_*861del, XM_011525699.1:c.*856_*861del, XR_243810.1:n.1672-373_1672-368delCTTTAA, XR_243810.3:n.1513-373_1513-368del, XR_243811.1:n.1538-373_1538-368delCTTTAA, XR_243811.2:n.1538-373_1538-368del, XR_243812.1:n.2112_2117delCTTTAA, XR_430041.2:n.1633-373_1633-368del, XR_935066.1:n.2109_2114del, XR_935067.1:n.1967_1972del
TTAAAG > -
indel
rs1610696 NC_000006.11:g.29798803C=, NC_000006.11:g.29798803C>G, NC_000006.12:g.29831026C=, NC_000006.12:g.29831026C>G, NG_029039.1:g.9048C=, NG_029039.1:g.9048C>G, NM_002127.5:c.*287C=, NM_002127.5:c.*287C>G, NT_113891.3:g.1314602G=, NT_113891.3:g.1314602G>C, NT_167244.2:g.1096652G=, NT_167244.2:g.1096652G>C, NT_167245.1:g.1099424C=, NT_167245.1:g.1099424C>G, NT_167245.2:g.1093839C=, NT_167245.2:g.1093839C>G, NT_167246.1:g.1099132C=, NT_167246.1:g.1099132C>G, NT_167246.2:g.1093512C=, NT_167246.2:g.1093512C>G, NT_167247.1:g.1099082C=, NT_167247.1:g.1099082C>G, NT_167247.2:g.1093497C=, NT_167247.2:g.1093497C>G, NT_167248.2:g.1093806G=, NT_167248.2:g.1093806G>C, NT_167249.2:g.1137071G=, NT_167249.2:g.1137071G>C, XM_005249055.1:c.*287C>G, XM_005249055.1:c.*287G>C, XM_005249056.1:c.*287C>G, XM_005249056.1:c.*287G>C, XM_005249057.1:c.*502C>G, XM_005249057.1:c.*502G>C, XM_005249058.1:c.*287C>G, XM_005249058.1:c.*287G>C, XM_005272810.1:c.*301C>G, XM_005272810.1:c.*301G>C, XM_005274964.1:c.*287C>G, XM_005274964.1:c.*287G>C, XM_005274965.1:c.*287C>G, XM_005274965.1:c.*287G>C, XM_005274966.1:c.*502C>G, XM_005274966.1:c.*502G>C, XM_005274967.1:c.*287C>G, XM_005274967.1:c.*287G>C, XM_005275119.1:c.*287C>G, XM_005275119.1:c.*287G>C, XM_005275120.1:c.*287C>G, XM_005275120.1:c.*287G>C, XM_005275121.1:c.*502C>G, XM_005275121.1:c.*502G>C, XM_005275122.1:c.*287C>G, XM_005275122.1:c.*287G>C, XM_005275246.1:c.*287C>G, XM_005275246.1:c.*287G>C, XM_005275247.1:c.*287C>G, XM_005275247.1:c.*287G>C, XM_005275248.1:c.*502C>G, XM_005275248.1:c.*502G>C, XM_005275249.1:c.*287C>G, XM_005275249.1:c.*287G>C, XM_005275394.1:c.*301C>G, XM_005275394.1:c.*301G>C, XM_005275549.1:c.*301C>G, XM_005275549.1:c.*301G>C, XM_005275550.1:c.*301C>G, XM_005275550.1:c.*301G>C, XM_005275551.1:c.*516C>G, XM_005275551.1:c.*516G>C, XM_005275552.1:c.*301G=, XM_005275552.1:c.*301G>C, XM_011547651.1:c.*287C>G, XM_011547651.1:c.*287G>C, XM_011547882.1:c.*287C=, XM_011547882.1:c.*287C>G, XM_011548048.1:c.*287C>G, XM_011548048.1:c.*287G>C, XM_011548236.1:c.*301C>G, XM_011548236.1:c.*301G>C, XM_011548237.1:c.*301C>G, XM_011548237.1:c.*301G>C, XM_011548430.1:c.*301C>G, XM_011548430.1:c.*301G>C, XM_011548431.1:c.*301C>G, XM_011548431.1:c.*301G>C, XR_241896.1:n.1913C>G, XR_241896.1:n.1913G>C, XR_246963.1:n.1847C>G, XR_246963.1:n.1847G>C, XR_247353.1:n.1913C>G, XR_247353.1:n.1913G>C, XR_247370.1:n.1913C>G, XR_247370.1:n.1913G>C, XR_247389.1:n.1913C>G, XR_247389.1:n.1913G>C, XR_247402.1:n.1847C>G, XR_247402.1:n.1847G>C, XR_247423.1:n.1905C>G, XR_247423.1:n.1905G>C, rs115045214, rs117220578, rs17185510
C > C
C > G
SNP
rs163182 NC_000011.10:g.2822986G>C, NC_000011.9:g.2844216G>C, NG_008935.1:g.382996G>C, NM_000218.2:c.1795-24781G>C, NM_181798.1:c.1414-24781G>C, NR_040711.2:n.1688-24781G>C, NT_187585.1:g.55173G>C, rs1176403, rs1182258, rs1182263, rs776659, rs800638
G > C
SNP
rs16857540 NC_000003.11:g.173900575C>G, NC_000003.12:g.174182785C>G, NM_014932.3:c.647-92530C>G, XM_005247231.1:c.767-92530C>G, XM_005247232.1:c.707-92530C>G, XM_005247233.1:c.707-92530C>G, XM_005247234.1:c.647-92530C>G, XM_005247235.1:c.647-92530C>G, XM_005247235.2:c.647-92530C>G, XM_005247236.1:c.647-92530C>G, XM_005247237.1:c.191-92530C>G, XM_005247237.2:c.191-92530C>G, XM_006713540.2:c.707-92530C>G, XM_011512551.1:c.707-92530C>G, XM_011512552.1:c.707-92530C>G, XM_011512553.1:c.-297+46205C>G, XM_011512554.1:c.-270+46205C>G, rs56587723, rs59949065, rs61398694
C > G
SNP
rs1695 NC_000011.10:g.67585218A>G, NC_000011.9:g.67352689A>G, NG_012075.1:g.6624A>G, NM_000852.3:c.313A>G, NP_000843.1:p.Ile105Val, XM_005273958.1:c.313A>G, XP_005274015.1:p.Ile105Val, rs1138257, rs11553891, rs17353321, rs17856342, rs2230827, rs4609, rs56971933, rs947894
A > G
SNP
I105V
rs1707 NC_000006.11:g.29798610C=, NC_000006.11:g.29798610C>T, NC_000006.12:g.29830833C=, NC_000006.12:g.29830833C>T, NG_029039.1:g.8855C=, NG_029039.1:g.8855C>T, NM_002127.5:c.*94C=, NM_002127.5:c.*94C>T, NT_113891.3:g.1314409T=, NT_113891.3:g.1314409T>C, NT_167244.2:g.1096459T=, NT_167244.2:g.1096459T>C, NT_167245.1:g.1099231T=, NT_167245.1:g.1099231T>C, NT_167245.2:g.1093646T=, NT_167245.2:g.1093646T>C, NT_167246.1:g.1098939T=, NT_167246.1:g.1098939T>C, NT_167246.2:g.1093319T=, NT_167246.2:g.1093319T>C, NT_167247.1:g.1098889T=, NT_167247.1:g.1098889T>C, NT_167247.2:g.1093304T=, NT_167247.2:g.1093304T>C, NT_167248.2:g.1093613T=, NT_167248.2:g.1093613T>C, NT_167249.2:g.1136878T=, NT_167249.2:g.1136878T>C, XM_005249055.1:c.*94C=, XM_005249055.1:c.*94C>T, XM_005249056.1:c.*94C=, XM_005249056.1:c.*94C>T, XM_005249057.1:c.*309C>T, XM_005249057.1:c.*309T>C, XM_005249058.1:c.*94C=, XM_005249058.1:c.*94C>T, XM_005272810.1:c.*108T=, XM_005272810.1:c.*108T>C, XM_005274964.1:c.*94T=, XM_005274964.1:c.*94T>C, XM_005274965.1:c.*94T=, XM_005274965.1:c.*94T>C, XM_005274966.1:c.*309C>T, XM_005274966.1:c.*309T>C, XM_005274967.1:c.*94T=, XM_005274967.1:c.*94T>C, XM_005275119.1:c.*94T=, XM_005275119.1:c.*94T>C, XM_005275120.1:c.*94T=, XM_005275120.1:c.*94T>C, XM_005275121.1:c.*309C>T, XM_005275121.1:c.*309T>C, XM_005275122.1:c.*94T=, XM_005275122.1:c.*94T>C, XM_005275246.1:c.*94T=, XM_005275246.1:c.*94T>C, XM_005275247.1:c.*94T=, XM_005275247.1:c.*94T>C, XM_005275248.1:c.*309C>T, XM_005275248.1:c.*309T>C, XM_005275249.1:c.*94T=, XM_005275249.1:c.*94T>C, XM_005275394.1:c.*108T=, XM_005275394.1:c.*108T>C, XM_005275549.1:c.*108T=, XM_005275549.1:c.*108T>C, XM_005275550.1:c.*108T=, XM_005275550.1:c.*108T>C, XM_005275551.1:c.*323C>T, XM_005275551.1:c.*323T>C, XM_005275552.1:c.*108T=, XM_005275552.1:c.*108T>C, XM_011547651.1:c.*94T=, XM_011547651.1:c.*94T>C, XM_011547882.1:c.*94T=, XM_011547882.1:c.*94T>C, XM_011548048.1:c.*94T=, XM_011548048.1:c.*94T>C, XM_011548236.1:c.*108T=, XM_011548236.1:c.*108T>C, XM_011548237.1:c.*108T=, XM_011548237.1:c.*108T>C, XM_011548430.1:c.*108T=, XM_011548430.1:c.*108T>C, XM_011548431.1:c.*108T=, XM_011548431.1:c.*108T>C, XR_241896.1:n.1720C=, XR_241896.1:n.1720C>T, XR_246963.1:n.1654T=, XR_246963.1:n.1654T>C, XR_247353.1:n.1720T=, XR_247353.1:n.1720T>C, XR_247370.1:n.1720T=, XR_247370.1:n.1720T>C, XR_247389.1:n.1720T=, XR_247389.1:n.1720T>C, XR_247402.1:n.1654T=, XR_247402.1:n.1654T>C, XR_247423.1:n.1712T=, XR_247423.1:n.1712T>C, rs113572485, rs115689421, rs117926242, rs1233332, rs1632931, rs17179087, rs17375406, rs57754052, rs75256208
C > C
C > T
SNP
rs1710 NC_000006.11:g.29798617G=, NC_000006.11:g.29798617G>C, NC_000006.12:g.29830840G=, NC_000006.12:g.29830840G>C, NG_029039.1:g.8862G=, NG_029039.1:g.8862G>C, NM_002127.5:c.*101G=, NM_002127.5:c.*101G>C, NT_113891.3:g.1314416C=, NT_113891.3:g.1314416C>G, NT_167244.2:g.1096466C=, NT_167244.2:g.1096466C>G, NT_167245.1:g.1099238G=, NT_167245.1:g.1099238G>C, NT_167245.2:g.1093653G=, NT_167245.2:g.1093653G>C, NT_167246.1:g.1098946G=, NT_167246.1:g.1098946G>C, NT_167246.2:g.1093326G=, NT_167246.2:g.1093326G>C, NT_167247.1:g.1098896G=, NT_167247.1:g.1098896G>C, NT_167247.2:g.1093311G=, NT_167247.2:g.1093311G>C, NT_167248.2:g.1093620C=, NT_167248.2:g.1093620C>G, NT_167249.2:g.1136885C=, NT_167249.2:g.1136885C>G, XM_005249055.1:c.*101G=, XM_005249055.1:c.*101G>C, XM_005249056.1:c.*101G=, XM_005249056.1:c.*101G>C, XM_005249057.1:c.*316C>G, XM_005249057.1:c.*316G>C, XM_005249058.1:c.*101G=, XM_005249058.1:c.*101G>C, XM_005272810.1:c.*115C=, XM_005272810.1:c.*115C>G, XM_005274964.1:c.*101G=, XM_005274964.1:c.*101G>C, XM_005274965.1:c.*101G=, XM_005274965.1:c.*101G>C, XM_005274966.1:c.*316C>G, XM_005274966.1:c.*316G>C, XM_005274967.1:c.*101G=, XM_005274967.1:c.*101G>C, XM_005275119.1:c.*101G=, XM_005275119.1:c.*101G>C, XM_005275120.1:c.*101G=, XM_005275120.1:c.*101G>C, XM_005275121.1:c.*316C>G, XM_005275121.1:c.*316G>C, XM_005275122.1:c.*101G=, XM_005275122.1:c.*101G>C, XM_005275246.1:c.*101G=, XM_005275246.1:c.*101G>C, XM_005275247.1:c.*101G=, XM_005275247.1:c.*101G>C, XM_005275248.1:c.*316C>G, XM_005275248.1:c.*316G>C, XM_005275249.1:c.*101G=, XM_005275249.1:c.*101G>C, XM_005275394.1:c.*115C=, XM_005275394.1:c.*115C>G, XM_005275549.1:c.*115C=, XM_005275549.1:c.*115C>G, XM_005275550.1:c.*115C=, XM_005275550.1:c.*115C>G, XM_005275551.1:c.*330C>G, XM_005275551.1:c.*330G>C, XM_005275552.1:c.*115C=, XM_005275552.1:c.*115C>G, XM_011547651.1:c.*101G=, XM_011547651.1:c.*101G>C, XM_011547882.1:c.*101G=, XM_011547882.1:c.*101G>C, XM_011548048.1:c.*101G=, XM_011548048.1:c.*101G>C, XM_011548236.1:c.*115C=, XM_011548236.1:c.*115C>G, XM_011548237.1:c.*115C=, XM_011548237.1:c.*115C>G, XM_011548430.1:c.*115C=, XM_011548430.1:c.*115C>G, XM_011548431.1:c.*115C=, XM_011548431.1:c.*115C>G, XR_241896.1:n.1727G=, XR_241896.1:n.1727G>C, XR_246963.1:n.1661C=, XR_246963.1:n.1661C>G, XR_247353.1:n.1727G=, XR_247353.1:n.1727G>C, XR_247370.1:n.1727G=, XR_247370.1:n.1727G>C, XR_247389.1:n.1727G=, XR_247389.1:n.1727G>C, XR_247402.1:n.1661C=, XR_247402.1:n.1661C>G, XR_247423.1:n.1719C=, XR_247423.1:n.1719C>G, rs1049037, rs111577111, rs116152775, rs117391931, rs1632930, rs17179094, rs3189113, rs77969756
G > C
G > G
SNP
rs17109924 NC_000012.11:g.71977787T>C, NC_000012.12:g.71584007T>C, NM_001277226.1:c.1925T>C, NM_001277227.1:c.1781T>C, NM_003667.3:c.1997T>C, NP_001264155.1:p.Val642Ala, NP_001264156.1:p.Val594Ala, NP_003658.1:p.Val666Ala, NR_110596.1:n.2497+95T>C, XM_005269204.1:c.1775T>C, XM_005269204.3:c.1775T>C, XP_005269261.1:p.Val592Ala, rs56488504, rs58792571, rs61507334
T > C
SNP
V642A
rs17116806 NC_000001.10:g.97973252C>A, NC_000001.11:g.97507696C>A, NG_008807.2:g.418364G>T, NM_000110.3:c.1740+8030G>T, XM_005270561.1:c.1629+8030G>T, XM_005270562.1:c.1524+41864G>T, XM_005270562.3:c.1524+41864G>T, XM_005270563.1:c.1740+8030G>T, XM_006710397.2:c.1740+8030G>T, rs59151739
C > A
SNP
rs17160359 NC_000007.13:g.87346819G>T, NC_000007.14:g.87717503G>T, NG_011513.1:g.746C>A, NM_001134405.1:c.458+6848G>T, NM_001134406.1:c.458+6848G>T, NM_138290.2:c.509+6848G>T, XM_005250156.1:c.458+6848G>T, XM_005250156.2:c.458+6848G>T, XM_005250157.1:c.116+6848G>T, XM_005250158.1:c.98+6848G>T, XM_005250158.2:c.98+6848G>T, XM_011515826.1:c.509+6848G>T, XM_011515827.1:c.509+6848G>T, XM_011515828.1:c.116+6848G>T, XM_011515829.1:c.116+6848G>T
G > T
SNP
rs17179101 NC_000006.11:g.29798634C>A, NC_000006.12:g.29830857C>A, NG_029039.1:g.8879C>A, NM_002127.5:c.*118C>A, NT_113891.3:g.1314433C>A, NT_167244.2:g.1096483C>A, NT_167245.1:g.1099255C>A, NT_167245.2:g.1093670C>A, NT_167246.1:g.1098963C>A, NT_167246.2:g.1093343C>A, NT_167247.1:g.1098913C>A, NT_167247.2:g.1093328C>A, NT_167248.2:g.1093637C>A, NT_167249.2:g.1136902C>A, XM_005249055.1:c.*118C>A, XM_005249056.1:c.*118C>A, XM_005249057.1:c.*333C>A, XM_005249058.1:c.*118C>A, XM_005272810.1:c.*132C>A, XM_005274964.1:c.*118C>A, XM_005274965.1:c.*118C>A, XM_005274966.1:c.*333C>A, XM_005274967.1:c.*118C>A, XM_005275119.1:c.*118C>A, XM_005275120.1:c.*118C>A, XM_005275121.1:c.*333C>A, XM_005275122.1:c.*118C>A, XM_005275246.1:c.*118C>A, XM_005275247.1:c.*118C>A, XM_005275248.1:c.*333C>A, XM_005275249.1:c.*118C>A, XM_005275394.1:c.*132C>A, XM_005275549.1:c.*132C>A, XM_005275550.1:c.*132C>A, XM_005275551.1:c.*347C>A, XM_005275552.1:c.*132C>A, XM_011547651.1:c.*118C>A, XM_011547882.1:c.*118C>A, XM_011548048.1:c.*118C>A, XM_011548236.1:c.*132C>A, XM_011548237.1:c.*132C>A, XM_011548430.1:c.*132C>A, XM_011548431.1:c.*132C>A, XR_241896.1:n.1744C>A, XR_246963.1:n.1678C>A, XR_247353.1:n.1744C>A, XR_247370.1:n.1744C>A, XR_247389.1:n.1744C>A, XR_247402.1:n.1678C>A, XR_247423.1:n.1736C>A, rs115810666, rs118174970
C > A
SNP
rs17179108 NC_000006.11:g.29798642C>T, NC_000006.12:g.29830865C>T, NG_029039.1:g.8887C>T, NM_002127.5:c.*126C>T, NT_113891.3:g.1314441C>T, NT_167244.2:g.1096491C>T, NT_167245.1:g.1099263C>T, NT_167245.2:g.1093678C>T, NT_167246.1:g.1098971C>T, NT_167246.2:g.1093351C>T, NT_167247.1:g.1098921C>T, NT_167247.2:g.1093336C>T, NT_167248.2:g.1093645C>T, NT_167249.2:g.1136910C>T, XM_005249055.1:c.*126C>T, XM_005249056.1:c.*126C>T, XM_005249057.1:c.*341C>T, XM_005249058.1:c.*126C>T, XM_005272810.1:c.*140C>T, XM_005274964.1:c.*126C>T, XM_005274965.1:c.*126C>T, XM_005274966.1:c.*341C>T, XM_005274967.1:c.*126C>T, XM_005275119.1:c.*126C>T, XM_005275120.1:c.*126C>T, XM_005275121.1:c.*341C>T, XM_005275122.1:c.*126C>T, XM_005275246.1:c.*126C>T, XM_005275247.1:c.*126C>T, XM_005275248.1:c.*341C>T, XM_005275249.1:c.*126C>T, XM_005275394.1:c.*140C>T, XM_005275549.1:c.*140C>T, XM_005275550.1:c.*140C>T, XM_005275551.1:c.*355C>T, XM_005275552.1:c.*140C>T, XM_011547651.1:c.*126C>T, XM_011547882.1:c.*126C>T, XM_011548048.1:c.*126C>T, XM_011548236.1:c.*140C>T, XM_011548237.1:c.*140C>T, XM_011548430.1:c.*140C>T, XM_011548431.1:c.*140C>T, XR_241896.1:n.1752C>T, XR_246963.1:n.1686C>T, XR_247353.1:n.1752C>T, XR_247370.1:n.1752C>T, XR_247389.1:n.1752C>T, XR_247402.1:n.1686C>T, XR_247423.1:n.1744C>T, rs115100128, rs117118691, rs17875407
C > T
SNP
rs1734787 AJ132917.1:c.27-27438T>G, NC_000023.10:g.153325446A>C, NC_000023.11:g.154059995A>C, NG_007107.2:g.82133T>G, NM_001110792.1:c.63-27438T>G, NM_001316337.1:c.-421-1429T>G, NM_004992.3:c.27-27438T>G, NW_003871103.3:g.1493974A>C, XM_005274681.1:c.27-27438T>G, XM_005274681.3:c.27-27438T>G, XM_005274682.1:c.-365-20092T>G, XM_005274682.3:c.-365-20092T>G, XM_005274683.1:c.-2264T>G, XM_005274683.3:c.-2264T>G, XM_005277851.1:c.27-27438T>G, XM_005277852.1:c.-365-20092T>G, XM_005277853.1:c.-2264T>G, XM_011531165.1:c.-421-1429T>G, rs17332596, rs56534075, rs58354099, rs61248129
A > C
SNP
rs1734791 AJ132917.1:c.26+26722T>A, NC_000023.10:g.153330920A>T, NC_000023.11:g.154065469A>T, NG_007107.2:g.76659T>A, NM_001110792.1:c.62+32141T>A, NM_001316337.1:c.-421-6903T>A, NM_004992.3:c.26+26722T>A, NW_003871103.3:g.1499448A>T, XM_005274681.1:c.26+26722T>A, XM_005274681.3:c.26+26715T>A, XM_005274682.1:c.-365-25566T>A, XM_005274682.3:c.-365-25566T>A, XM_005277851.1:c.26+26715T>A, XM_005277852.1:c.-365-25566T>A, XM_011531165.1:c.-421-6903T>A, rs111178553, rs60889458
A > T
SNP
rs17376848 NC_000001.10:g.97915624A>G, NC_000001.11:g.97450068A>G, NG_008807.2:g.475992T>C, NM_000110.3:c.1896T>C, NP_000101.2:p.Phe632=, XM_005270561.1:c.1785T>C, XM_005270562.1:c.1680T>C, XM_005270562.3:c.1680T>C, XM_005270563.1:c.1896T>C, XM_006710397.2:c.1896T>C, XP_005270618.1:p.Phe595=, XP_005270619.1:p.Phe560=, XP_005270619.2:p.Phe560=, XP_005270620.1:p.Phe632=, XP_006710460.1:p.Phe632=, rs117467766, rs52815410, rs58485702
A > G
SNP
F632F
rs17431184 NC_000010.10:g.89720251T>C, NC_000010.11:g.87960494T>C, NG_007466.2:g.102056T>C, NM_000314.4:c.802-400T>C, NM_000314.6:c.802-400T>C, NM_001304717.2:c.1321-400T>C, NM_001304718.1:c.211-400T>C, XM_006717926.2:c.757-400T>C, XM_011539981.1:c.802-400T>C, XM_011539982.1:c.706-400T>C, XR_945791.1:n.1372-400T>C, rs60289874
T > C
SNP
rs17435 AJ132917.1:c.27-13972A>T, NC_000023.10:g.153311980T>A, NC_000023.11:g.154046529T>A, NG_007107.2:g.95599A>T, NM_001110792.1:c.63-13972A>T, NM_001316337.1:c.-254+11870A>T, NM_004992.3:c.27-13972A>T, NW_003871103.3:g.1480508T>A, XM_005274681.1:c.27-13972A>T, XM_005274681.3:c.27-13972A>T, XM_005274682.1:c.-365-6626A>T, XM_005274682.3:c.-365-6626A>T, XM_005274683.1:c.-254+10412A>T, XM_005274683.3:c.-254+10412A>T, XM_005277851.1:c.27-13972A>T, XM_005277852.1:c.-365-6626A>T, XM_005277853.1:c.-254+10412A>T, XM_011531165.1:c.-254+11870A>T, XM_011531166.1:c.-254+1988A>T, rs60248475, rs61484111
T > A
SNP
rs17626122 NC_000002.11:g.206474012T>C, NC_000002.12:g.205609288T>C, NM_001302769.1:c.3261-6168T>C, NM_057177.6:c.3054-6168T>C, NM_152526.5:c.3075-6168T>C, NM_205863.3:c.2958-6168T>C, XM_005246273.1:c.3261-6168T>C, XM_005246274.1:c.2664-6168T>C, XM_011510550.1:c.3321-908T>C, XM_011510551.1:c.3261-908T>C, XM_011510552.1:c.3285-6168T>C, rs56463399, rs57676795
T > C
SNP
rs17822471 NC_000016.10:g.48208468G>A, NC_000016.9:g.48242379G>A, NG_011522.1:g.31710C>T, NM_032583.3:c.1637C>T, NM_033151.3:c.1637C>T, NM_145186.2:c.1637C>T, NP_115972.2:p.Thr546Met, NP_149163.2:p.Thr546Met, NP_660187.1:p.Thr546Met, XM_005256208.1:c.1637C>T, XM_005256209.1:c.1637C>T, XM_005256210.1:c.1637C>T, XM_011523396.1:c.1439C>T, XM_011523397.1:c.680C>T, XP_005256265.1:p.Thr546Met, XP_005256266.1:p.Thr546Met, XP_005256267.1:p.Thr546Met, XP_011521698.1:p.Thr480Met, XP_011521699.1:p.Thr227Met, XR_243432.1:n.1742C>T, rs386492901, rs52810988, rs57560138
G > A
SNP
T546M
rs17822931 NC_000016.10:g.48224287C>T, NC_000016.9:g.48258198C>T, NG_011522.1:g.15891G>A, NM_032583.3:c.538G>A, NM_033151.3:c.538G>A, NM_145186.2:c.538G>A, NP_115972.2:p.Gly180Arg, NP_149163.2:p.Gly180Arg, NP_660187.1:p.Gly180Arg, XM_005256208.1:c.538G>A, XM_005256209.1:c.538G>A, XM_005256210.1:c.538G>A, XM_011523396.1:c.340G>A, XM_011523397.1:c.-1144G>A, XP_005256265.1:p.Gly180Arg, XP_005256266.1:p.Gly180Arg, XP_005256267.1:p.Gly180Arg, XP_011521698.1:p.Gly114Arg, XR_243432.1:n.643G>A, rs52813591, rs58140753
C > T
SNP
G180R
rs1799793 NC_000019.10:g.45364001C>T, NC_000019.9:g.45867259C>T, NG_007067.2:g.11587G>A, NM_000400.3:c.934G>A, NM_001130867.1:c.862G>A, NP_000391.1:p.Asp312Asn, NP_001124339.1:p.Asp288Asn, XM_005258639.1:c.862G>A, XM_005258640.1:c.700G>A, XM_005258641.1:c.196G>A, XM_005258642.1:c.934G>A, XM_011526611.1:c.856G>A, XP_005258696.1:p.Asp288Asn, XP_005258697.1:p.Asp234Asn, XP_005258698.1:p.Asp66Asn, XP_005258699.1:p.Asp312Asn, XP_011524913.1:p.Asp286Asn, XR_935763.1:n.981G>A, rs3916814, rs58989209
C > T
SNP
D312N
rs1799794 NC_000014.8:g.104179267T>C, NC_000014.9:g.103712930T>C, NG_011516.1:g.7557A>G, NM_001100118.1:c.-260-1363A>G, NM_001100119.1:c.-316A>G, NM_005432.3:c.-316A>G, XM_005268045.1:c.-316A>G, XM_005268046.1:c.-354-1269A>G, XM_005268047.1:c.-251A>G, XM_005268048.1:c.-260-1363A>G, XM_011537138.1:c.-316A>G, rs3212034
T > C
SNP
rs1799895 NC_000004.11:g.24801834C>G, NC_000004.12:g.24800212C>G, NG_012213.1:g.9750C>G, NM_003102.2:c.691C>G, NP_003093.2:p.Arg231Gly, XR_427488.1:n.881C>G, XR_925483.1:n.1189G>C, rs8192292
C > G
SNP
R231G
rs1799983 NC_000007.13:g.150696111T>G, NC_000007.14:g.150999023T>G, NG_011992.1:g.12965T>G, NM_000603.4:c.894T>G, NM_001160109.1:c.894T>G, NM_001160110.1:c.894T>G, NM_001160111.1:c.894T>G, NP_000594.2:p.Asp298Glu, NP_001153581.1:p.Asp298Glu, NP_001153582.1:p.Asp298Glu, NP_001153583.1:p.Asp298Glu, XM_006716002.2:c.894T>G, XP_006716065.1:p.Asp298Glu, rs11266811, rs13238975, rs13305983, rs13308813, rs17173672, rs3730304, rs57135373
T > G
SNP
D298E
rs1800566 NC_000016.10:g.69711242G>A, NC_000016.9:g.69745145G>A, NG_011504.1:g.20389C>T, NM_000903.2:c.559C>T, NM_001025433.1:c.457C>T, NM_001025434.1:c.445C>T, NM_001286137.1:c.343C>T, NP_000894.1:p.Pro187Ser, NP_001020604.1:p.Pro153Ser, NP_001020605.1:p.Pro149Ser, NP_001273066.1:p.Pro115Ser, XM_005255830.1:c.343C>T, XP_005255887.1:p.Pro115Ser, rs4134727, rs4149351, rs57135274
G > A
SNP
P187S
rs1801019 NC_000003.11:g.124456742G>C, NC_000003.12:g.124737895G>C, NG_017037.1:g.12530G>C, NM_000373.3:c.638G>C, NP_000364.1:p.Gly213Ala, NR_033434.1:n.590G>C, NR_033437.1:n.843G>C, XM_005247741.1:c.362G>C, XM_005247742.1:c.104G>C, XM_005247743.1:c.124-20G>C, XM_005247744.1:c.104G>C, XP_005247798.1:p.Gly121Ala, XP_005247799.1:p.Gly35Ala, XP_005247801.1:p.Gly35Ala, rs17843818, rs199469590, rs3172286, rs3772805, rs52826107, rs58177968
G > C
SNP
G213A
rs1801131 NC_000001.10:g.11854476T>G, NC_000001.11:g.11794419T>G, NG_013351.1:g.16685A>C, NM_005957.4:c.1286A>C, NP_005948.3:p.Glu429Ala, XM_005263458.1:c.1409A>C, XM_005263458.2:c.1409A>C, XM_005263459.1:c.1355A>C, XM_005263460.1:c.1286A>C, XM_005263460.3:c.1286A>C, XM_005263461.1:c.1286A>C, XM_005263461.3:c.1286A>C, XM_005263462.1:c.1286A>C, XM_005263462.3:c.1286A>C, XM_005263463.1:c.1040A>C, XM_005263463.2:c.1040A>C, XM_011541495.1:c.1406A>C, XM_011541496.1:c.1409A>C, XP_005263515.1:p.Glu470Ala, XP_005263516.1:p.Glu452Ala, XP_005263517.1:p.Glu429Ala, XP_005263518.1:p.Glu429Ala, XP_005263519.1:p.Glu429Ala, XP_005263520.1:p.Glu347Ala, XP_011539797.1:p.Glu469Ala, XP_011539798.1:p.Glu470Ala, rs17367365, rs17857426, rs4134712
T > G
SNP
E429A
rs1801133 NC_000001.10:g.11856378G>A, NC_000001.11:g.11796321G>A, NG_013351.1:g.14783C>T, NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, XM_005263458.1:c.788C>T, XM_005263458.2:c.788C>T, XM_005263459.1:c.734C>T, XM_005263460.1:c.665C>T, XM_005263460.3:c.665C>T, XM_005263461.1:c.665C>T, XM_005263461.3:c.665C>T, XM_005263462.1:c.665C>T, XM_005263462.3:c.665C>T, XM_005263463.1:c.419C>T, XM_005263463.2:c.419C>T, XM_011541495.1:c.785C>T, XM_011541496.1:c.788C>T, XP_005263515.1:p.Ala263Val, XP_005263516.1:p.Ala245Val, XP_005263517.1:p.Ala222Val, XP_005263518.1:p.Ala222Val, XP_005263519.1:p.Ala222Val, XP_005263520.1:p.Ala140Val, XP_011539797.1:p.Ala262Val, XP_011539798.1:p.Ala263Val, rs386545618, rs4134713, rs59514310
G > A
SNP
A222V
rs1801158 NC_000001.10:g.97981421C>T, NC_000001.11:g.97515865C>T, NG_008807.2:g.410195G>A, NM_000110.3:c.1601G>A, NP_000101.2:p.Ser534Asn, XM_005270561.1:c.1490G>A, XM_005270562.1:c.1524+33695G>A, XM_005270562.3:c.1524+33695G>A, XM_005270563.1:c.1601G>A, XM_005270564.1:c.1601G>A, XM_006710397.2:c.1601G>A, XP_005270618.1:p.Ser497Asn, XP_005270620.1:p.Ser534Asn, XP_005270621.1:p.Ser534Asn, XP_006710460.1:p.Ser534Asn, rs199469539, rs52824375, rs59516208
C > T
SNP
S534N
rs1801159 NC_000001.10:g.97981395T>C, NC_000001.11:g.97515839T>C, NG_008807.2:g.410221A>G, NM_000110.3:c.1627A>G, NP_000101.2:p.Ile543Val, XM_005270561.1:c.1516A>G, XM_005270562.1:c.1524+33721A>G, XM_005270562.3:c.1524+33721A>G, XM_005270563.1:c.1627A>G, XM_005270564.1:c.1627A>G, XM_006710397.2:c.1627A>G, XP_005270618.1:p.Ile506Val, XP_005270620.1:p.Ile543Val, XP_005270621.1:p.Ile543Val, XP_006710460.1:p.Ile543Val, rs117999026, rs17116825, rs199469541, rs386545620, rs58945530
T > C
SNP
I543V
rs1801160 NC_000001.10:g.97770920C>T, NC_000001.11:g.97305364C>T, NG_008807.2:g.620696G>A, NM_000110.3:c.2194G>A, NP_000101.2:p.Val732Ile, NR_046590.1:n.129-825C>T, XM_005270561.1:c.2083G>A, XM_005270562.1:c.1978G>A, XM_005270562.3:c.1978G>A, XM_005270563.1:c.2194G>A, XM_006710397.2:c.2194G>A, XP_005270618.1:p.Val695Ile, XP_005270619.1:p.Val660Ile, XP_005270619.2:p.Val660Ile, XP_005270620.1:p.Val732Ile, XP_006710460.1:p.Val732Ile, rs12720467, rs12720468, rs199469554
C > T
SNP
V732I
rs1801265 NC_000001.10:g.98348885G=, NC_000001.10:g.98348885G>A, NC_000001.11:g.97883329A=, NC_000001.11:g.97883329A>G, NG_008807.2:g.42731T=, NG_008807.2:g.42731T>C, NM_000110.3:c.85T=, NM_000110.3:c.85T>C, NM_001160301.1:c.85T=, NM_001160301.1:c.85T>C, NP_000101.2:p.Cys29=, NP_000101.2:p.Cys29Arg, NP_001153773.1:p.Cys29=, NP_001153773.1:p.Cys29Arg, XM_005270561.1:c.39+37555C>T, XM_005270561.1:c.39+37555T>C, XM_005270562.1:c.85C=, XM_005270562.1:c.85C>T, XM_005270562.3:c.85T=, XM_005270562.3:c.85T>C, XM_005270563.1:c.85C=, XM_005270563.1:c.85C>T, XM_005270564.1:c.85C=, XM_005270564.1:c.85C>T, XM_006710397.2:c.85T=, XM_006710397.2:c.85T>C, XP_005270619.1:p.Arg29=, XP_005270619.1:p.Arg29Cys, XP_005270619.2:p.Cys29=, XP_005270619.2:p.Cys29Arg, XP_005270620.1:p.Arg29=, XP_005270620.1:p.Arg29Cys, XP_005270621.1:p.Arg29=, XP_005270621.1:p.Arg29Cys, XP_006710460.1:p.Cys29=, XP_006710460.1:p.Cys29Arg, rs199469510, rs3211355, rs52823090, rs57596852
G > A
SNP
C29R
rs1801266 NC_000001.10:g.98157332G>A, NC_000001.11:g.97691776G>A, NG_008807.2:g.234284C>T, NM_000110.3:c.703C>T, NP_000101.2:p.Arg235Trp, XM_005270561.1:c.592C>T, XM_005270562.1:c.703C>T, XM_005270562.3:c.703C>T, XM_005270563.1:c.703C>T, XM_005270564.1:c.703C>T, XM_006710397.2:c.703C>T, XP_005270618.1:p.Arg198Trp, XP_005270619.1:p.Arg235Trp, XP_005270619.2:p.Arg235Trp, XP_005270620.1:p.Arg235Trp, XP_005270621.1:p.Arg235Trp, XP_006710460.1:p.Arg235Trp, rs386545627
G > A
SNP
R235W
rs1801267 NC_000001.10:g.97564154C>T, NC_000001.11:g.97098598C>T, NG_008807.2:g.827462G>A, NM_000110.3:c.2657G>A, NP_000101.2:p.Arg886His, NR_046590.1:n.64+2612C>T, XM_005270561.1:c.2546G>A, XM_005270562.1:c.2441G>A, XM_005270562.3:c.2441G>A, XP_005270618.1:p.Arg849His, XP_005270619.1:p.Arg814His, XP_005270619.2:p.Arg814His, rs386545628
C > T
SNP
R886H
rs1801268 NC_000001.10:g.97544627C>A, NC_000001.11:g.97079071C>A, NG_008807.2:g.846989G>T, NM_000110.3:c.2983G>T, NP_000101.2:p.Val995Phe, XM_005270561.1:c.2872G>T, XM_005270562.1:c.2767G>T, XM_005270562.3:c.2767G>T, XP_005270618.1:p.Val958Phe, XP_005270619.1:p.Val923Phe, XP_005270619.2:p.Val923Phe, rs386545629
C > A
SNP
V995F
rs183105782 NC_000001.10:g.98060663A>G, NC_000001.11:g.97595107A>G, NG_008807.2:g.330953T>C, NM_000110.3:c.910T>C, NP_000101.2:p.Tyr304His, XM_005270561.1:c.799T>C, XM_005270562.1:c.910T>C, XM_005270562.3:c.910T>C, XM_005270563.1:c.910T>C, XM_005270564.1:c.910T>C, XM_006710397.2:c.910T>C, XP_005270618.1:p.Tyr267His, XP_005270619.1:p.Tyr304His, XP_005270619.2:p.Tyr304His, XP_005270620.1:p.Tyr304His, XP_005270621.1:p.Tyr304His, XP_006710460.1:p.Tyr304His
A > G
SNP
Y304H
rs183205964 NC_000018.10:g.657657G>C, NC_000018.9:g.657657G>C, NG_028255.1:g.5054G>C, NM_001012716.2:c.*34+185C>G, NM_001071.2:c.-86G>C, XM_005258137.1:c.-86G>C, XM_005258138.1:c.-86G>C
G > C
SNP
rs183385770 NC_000001.10:g.98058878C>T, NC_000001.11:g.97593322C>T, NG_008807.2:g.332738G>A, NM_000110.3:c.1024G>A, NP_000101.2:p.Asp342Asn, XM_005270561.1:c.913G>A, XM_005270562.1:c.1024G>A, XM_005270562.3:c.1024G>A, XM_005270563.1:c.1024G>A, XM_005270564.1:c.1024G>A, XM_006710397.2:c.1024G>A, XP_005270618.1:p.Asp305Asn, XP_005270619.1:p.Asp342Asn, XP_005270619.2:p.Asp342Asn, XP_005270620.1:p.Asp342Asn, XP_005270621.1:p.Asp342Asn, XP_006710460.1:p.Asp342Asn
C > T
SNP
D342N
rs186169810 NC_000001.10:g.98039341A>C, NC_000001.11:g.97573785A>C, NG_008807.2:g.352275T>G, NM_000110.3:c.1314T>G, NP_000101.2:p.Phe438Leu, XM_005270561.1:c.1203T>G, XM_005270562.1:c.1314T>G, XM_005270562.3:c.1314T>G, XM_005270563.1:c.1314T>G, XM_005270564.1:c.1314T>G, XM_006710397.2:c.1314T>G, XP_005270618.1:p.Phe401Leu, XP_005270619.1:p.Phe438Leu, XP_005270619.2:p.Phe438Leu, XP_005270620.1:p.Phe438Leu, XP_005270621.1:p.Phe438Leu, XP_006710460.1:p.Phe438Leu
A > C
SNP
F438L
rs1870377 NC_000004.11:g.55972974T>A, NC_000004.12:g.55106807T>A, NG_012004.1:g.23789A>T, NM_002253.2:c.1416A>T, NP_002244.1:p.Gln472His, rs52810770
T > A
SNP
Q472H
rs188052243 NC_000001.10:g.97564133T>C, NC_000001.11:g.97098577T>C, NG_008807.2:g.827483A>G, NM_000110.3:c.2678A>G, NP_000101.2:p.Asn893Ser, NR_046590.1:n.64+2591T>C, XM_005270561.1:c.2567A>G, XM_005270562.1:c.2462A>G, XM_005270562.3:c.2462A>G, XP_005270618.1:p.Asn856Ser, XP_005270619.1:p.Asn821Ser, XP_005270619.2:p.Asn821Ser
T > C
SNP
N893S
rs1885301 NC_000010.10:g.101541053A>G, NC_000010.11:g.99781296A>G, NG_011798.1:g.3591A>G, NM_000392.4:c.-1549A>G, XM_005269536.1:c.-1549A>G, XM_006717631.2:c.-1549A>G, XM_011539291.1:c.-1549A>G, XR_945604.1:n.-1360A>G, XR_945605.1:n.-1358A>G, rs17216261, rs59934936
A > G
SNP
rs190577302 NC_000001.10:g.98058848G>C, NC_000001.11:g.97593292G>C, NG_008807.2:g.332768C>G, NM_000110.3:c.1054C>G, NP_000101.2:p.Leu352Val, XM_005270561.1:c.943C>G, XM_005270562.1:c.1054C>G, XM_005270562.3:c.1054C>G, XM_005270563.1:c.1054C>G, XM_005270564.1:c.1054C>G, XM_006710397.2:c.1054C>G, XP_005270618.1:p.Leu315Val, XP_005270619.1:p.Leu352Val, XP_005270619.2:p.Leu352Val, XP_005270620.1:p.Leu352Val, XP_005270621.1:p.Leu352Val, XP_006710460.1:p.Leu352Val
G > C
SNP
L352V
rs190951787
G > C
SNP
T526S
rs1979277 NC_000017.10:g.18232096G>A, NC_000017.11:g.18328782G>A, NG_017111.1:g.39761C>T, NM_001281786.1:c.1006C>T, NM_004169.4:c.1420C>T, NM_148918.2:c.1303C>T, NP_001268715.1:p.Leu336Phe, NP_004160.3:p.Leu474Phe, NP_683718.1:p.Leu435Phe, XM_005256767.1:c.1420C>T, XM_005256767.2:c.1420C>T, XM_005256768.1:c.1006C>T, XM_011523992.1:c.1180C>T, XP_005256824.1:p.Leu474Phe, XP_005256825.1:p.Leu336Phe, XP_011522294.1:p.Leu394Phe, rs17850285, rs2230025, rs3183766, rs57933897
G > A
SNP
L336F
rs199549923
G > T
SNP
T468N
rs199634007
G > T
SNP
T779N
rs200064537
A > T
SNP
N420K
rs200562975
T > C
SNP
N151D
rs200687447 NC_000001.10:g.97658765C>G, NC_000001.10:g.97658765C>T, NC_000001.11:g.97193209C>G, NC_000001.11:g.97193209C>T, NG_008807.2:g.732851G>A, NG_008807.2:g.732851G>C, NM_000110.3:c.2482G>A, NM_000110.3:c.2482G>C, NP_000101.2:p.Glu828Gln, NP_000101.2:p.Glu828Lys, NR_046590.1:n.65-72205C>G, NR_046590.1:n.65-72205C>T, XM_005270561.1:c.2371G>A, XM_005270561.1:c.2371G>C, XM_005270562.1:c.2266G>A, XM_005270562.1:c.2266G>C, XM_005270562.3:c.2266G>A, XM_005270562.3:c.2266G>C, XM_006710397.2:c.2482G>A, XM_006710397.2:c.2482G>C, XP_005270618.1:p.Glu791Gln, XP_005270618.1:p.Glu791Lys, XP_005270619.1:p.Glu756Gln, XP_005270619.1:p.Glu756Lys, XP_005270619.2:p.Glu756Gln, XP_005270619.2:p.Glu756Lys, XP_006710460.1:p.Glu828Gln, XP_006710460.1:p.Glu828Lys
C > G
C > T
SNP
E828K/Q
rs201018345
C > T
SNP
A323T
rs201035051
T > G
SNP
K875Q
rs201045130 NC_000001.10:g.40125139A>G, NC_000001.11:g.39659467A>G, NM_032526.2:c.761T>C, NP_115915.1:p.Leu254Pro
A > G
SNP
L254P
rs2010851 NC_000012.11:g.1756642C>A, NC_000012.12:g.1647476C>A, NM_030775.2:c.*1224C>A, NM_032642.2:c.*1224C>A, XM_005253792.1:c.*1224C>A, XM_005253793.1:c.*1224C>A, XM_005253794.1:c.*1224C>A, XM_011521026.1:c.*1224C>A, rs57028820
C > A
SNP
rs2010963 NC_000006.11:g.43738350C>G, NC_000006.12:g.43770613C>G, NG_008732.1:g.5398C>G, NM_001025366.2:c.-94C>G, NM_001025367.2:c.-94C>G, NM_001025368.2:c.-94C>G, NM_001025369.2:c.-94C>G, NM_001025370.2:c.-94C>G, NM_001033756.2:c.-94C>G, NM_001171622.1:c.-94C>G, NM_001171623.1:c.-634C>G, NM_001171624.1:c.-634C>G, NM_001171625.1:c.-634C>G, NM_001171626.1:c.-634C>G, NM_001171627.1:c.-634C>G, NM_001171628.1:c.-634C>G, NM_001171629.1:c.-634C>G, NM_001171630.1:c.-634C>G, NM_001204384.1:c.-634C>G, NM_001204385.1:c.-94C>G, NM_001287044.1:c.-1507C>G, NM_001317010.1:c.-634C>G, NM_003376.5:c.-94C>G, XM_005249363.1:c.-1507C>G
C > G
SNP
rs201615754
C > A
C > T
SNP
R561L/Q
rs202144771
G > A
SNP
L993F
rs2032582 NC_000007.13:g.87160618A>C, NC_000007.13:g.87160618A>T, NC_000007.14:g.87531302A>C, NC_000007.14:g.87531302A>T, NG_011513.1:g.186947T>A, NG_011513.1:g.186947T>G, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893Thr, rs10228331, rs2229106, rs386553610, rs57135550, rs9641018
A > C
A > T
SNP
S893A
rs2070474 NC_000022.10:g.24891292C>G, NC_000022.11:g.24495324C>G, NG_012858.1:g.5042C>G, NM_016327.2:c.-80C>G, NR_028483.2:n.-250G>C, NR_028484.2:n.-250G>C, XM_005261633.1:c.-112C>G, XM_011530222.1:c.-80C>G, XM_011530223.1:c.-80C>G, XM_011530224.1:c.-80C>G, XM_011530225.1:c.-522C>G, XR_244378.1:n.265C>G, XR_937867.1:n.858C>G, rs199469575
C > G
SNP
rs2070744 NC_000007.13:g.150690079C=, NC_000007.13:g.150690079C>T, NC_000007.14:g.150992991C=, NC_000007.14:g.150992991C>T, NG_011992.1:g.6933C=, NG_011992.1:g.6933C>T, NM_000603.4:c.-51-762C=, NM_000603.4:c.-51-762C>T, NM_001160109.1:c.-813C=, NM_001160109.1:c.-813C>T, NM_001160110.1:c.-813C=, NM_001160110.1:c.-813C>T, NM_001160111.1:c.-813C=, NM_001160111.1:c.-813C>T, XM_006716002.2:c.-813C=, XM_006716002.2:c.-813C>T, rs10333298, rs34629525, rs61324345
C > T
SNP
rs2071559 NC_000004.11:g.55992366A>G, NC_000004.12:g.55126199A>G, NG_012004.1:g.4397T>C, NM_002253.2:c.-906T>C, rs59863954
A > G
SNP
rs2072671 NC_000001.10:g.20915701A>C, NC_000001.11:g.20589208A>C, NM_001785.2:c.79A>C, NP_001776.1:p.Lys27Gln, rs57221291
A > C
SNP
K27Q
rs2074087 NC_000016.10:g.16090375C=, NC_000016.10:g.16090375C>G, NC_000016.9:g.16184232C>G, NG_028268.1:g.145799C=, NG_028268.1:g.145799C>G, NM_004996.3:c.2461-30C>G, NM_004996.3:c.2461-30G>C, NT_187607.1:g.1748233G=, NT_187607.1:g.1748233G>C, XM_005255326.1:c.2461-30C>G, XM_005255327.1:c.2335-30C>G, XM_005255328.1:c.2323-30C>G, XM_005255329.1:c.2284-30C>G, XM_011522497.1:c.2437-30C>G, XM_011522497.1:c.2437-30G>C, XM_011522498.1:c.2368-30C>G, XM_011522498.1:c.2368-30G>C, rs57718684
C > G
SNP
rs2231142 NC_000004.11:g.89052323G>T, NC_000004.12:g.88131171G>T, NG_032067.2:g.105152C>A, NM_001257386.1:c.421C>A, NM_004827.2:c.421C>A, NP_001244315.1:p.Gln141Lys, NP_004818.2:p.Gln141Lys, XM_005263354.1:c.421C>A, XM_005263354.2:c.421C>A, XM_005263355.1:c.421C>A, XM_005263355.2:c.421C>A, XM_005263356.1:c.421C>A, XM_005263356.2:c.421C>A, XM_011532420.1:c.421C>A, XP_005263411.1:p.Gln141Lys, XP_005263412.1:p.Gln141Lys, XP_005263413.1:p.Gln141Lys, XP_011530722.1:p.Gln141Lys, rs12721641, rs28365035, rs3736117, rs52809243, rs58973676
G > T
SNP
Q141K
rs2236225 NC_000014.8:g.64908845G>A, NC_000014.9:g.64442127G>A, NG_012450.1:g.59087G>A, NM_005956.3:c.1958G>A, NP_005947.3:p.Arg653Gln, XM_005267693.1:c.2126G>A, XP_005267750.1:p.Arg709Gln, rs117048039, rs17751608, rs17850560, rs52810262, rs56503831, rs58065500
G > A
SNP
R653Q
rs2236722 NC_000015.10:g.51242798A>G, NC_000015.9:g.51534995A>G, NG_007982.1:g.100801T>C, NM_000103.3:c.115T>C, NM_031226.2:c.115T>C, NP_000094.2:p.Trp39Arg, NP_112503.1:p.Trp39Arg, XM_005254190.1:c.115T>C, XM_005254191.1:c.115T>C, XM_005254192.1:c.115T>C, XP_005254247.1:p.Trp39Arg, XP_005254248.1:p.Trp39Arg, XP_005254249.1:p.Trp39Arg, XR_932222.1:n.99-35185A>G, rs17703921, rs52795506, rs57951984
A > G
SNP
W39R
rs225440 NC_000021.8:g.43653053C>T, NC_000021.9:g.42232943C>T, NM_004915.3:c.286+7029C>T, NM_016818.2:c.286+7029C>T, NM_207174.1:c.319+7029C>T, NM_207627.1:c.292+7029C>T, NM_207628.1:c.220+7029C>T, NM_207629.1:c.277+7029C>T, XM_005261209.1:c.319+7029C>T, XM_011529806.1:c.319+7029C>T, XM_011529807.1:c.319+7029C>T, rs3827226, rs386562698, rs474673, rs56980987, rs872748
C > T
SNP
rs2266637 NC_000022.10:g.24376845C>T, NM_000853.3:c.505G>A, NM_001293807.1:c.463G>A, NM_001293808.1:c.151G>A, NM_001293809.1:c.151G>A, NM_001293810.1:c.151G>A, NM_001293811.1:c.151G>A, NM_001293812.1:c.151G>A, NM_001293813.1:c.201-228G>A, NM_001293814.1:c.113-228G>A, NP_000844.2:p.Val169Ile, NP_001280736.1:p.Val155Ile, NP_001280737.1:p.Val51Ile, NP_001280738.1:p.Val51Ile, NP_001280739.1:p.Val51Ile, NP_001280740.1:p.Val51Ile, NP_001280741.1:p.Val51Ile, NT_187633.1:g.271020C>T, XM_005261587.1:c.652G>A, XM_005261587.2:c.652G>A, XM_005261588.1:c.151G>A, XM_005261589.1:c.151G>A, XP_005261644.1:p.Val218Ile, XP_005261645.1:p.Val51Ile, XP_005261646.1:p.Val51Ile, rs56671512, rs762585649
C > T
SNP
V169I
rs2286455 NC_000004.11:g.16020162C>T, NC_000004.12:g.16018539C>T, NG_011696.1:g.70462G>A, NM_001145847.1:c.759G>A, NM_001145848.1:c.759G>A, NM_001145849.1:c.786G>A, NM_001145850.1:c.786G>A, NM_001145851.1:c.759G>A, NM_001145852.1:c.759G>A, NM_006017.2:c.786G>A, NP_001139319.1:p.Ala253=, NP_001139320.1:p.Ala253=, NP_001139321.1:p.Ala262=, NP_001139322.1:p.Ala262=, NP_001139323.1:p.Ala253=, NP_001139324.1:p.Ala253=, NP_006008.1:p.Ala262=, XM_005248194.1:c.786G>A, XM_005248195.1:c.759G>A, XM_005248195.3:c.759G>A, XM_005248196.1:c.759G>A, XM_005248196.3:c.759G>A, XM_006713974.2:c.552G>A, XM_011513890.1:c.786G>A, XM_011513891.1:c.786G>A, XM_011513892.1:c.786G>A, XM_011513893.1:c.786G>A, XM_011513894.1:c.786G>A, XM_011513895.1:c.786G>A, XM_011513896.1:c.786G>A, XM_011513897.1:c.786G>A, XM_011513898.1:c.786G>A, XM_011513899.1:c.759G>A, XM_011513900.1:c.786G>A, XM_011513901.1:c.786G>A, XM_011513902.1:c.786G>A, XM_011513903.1:c.579G>A, XM_011513904.1:c.513G>A, XP_005248251.1:p.Ala262=, XP_005248252.1:p.Ala253=, XP_005248253.1:p.Ala253=, XP_006714037.1:p.Ala184=, XP_011512192.1:p.Ala262=, XP_011512193.1:p.Ala262=, XP_011512194.1:p.Ala262=, XP_011512195.1:p.Ala262=, XP_011512196.1:p.Ala262=, XP_011512197.1:p.Ala262=, XP_011512198.1:p.Ala262=, XP_011512199.1:p.Ala262=, XP_011512200.1:p.Ala262=, XP_011512201.1:p.Ala253=, XP_011512202.1:p.Ala262=, XP_011512203.1:p.Ala262=, XP_011512204.1:p.Ala262=, XP_011512205.1:p.Ala193=, XP_011512206.1:p.Ala171=, rs56605149, rs60672150
C > T
SNP
A253A
rs2289310 NC_000010.10:g.79570873G>T, NC_000010.11:g.77811115G>T, NG_011484.1:g.120476C>A, NM_004747.3:c.4442C>A, NP_004738.3:p.Pro1481Gln, NT_187580.1:g.49807G>T, XM_005270276.1:c.4430C>A, XM_005270276.3:c.4430C>A, XM_006718056.2:c.3422C>A, XM_006725120.2:c.4430C>A, XM_006725122.2:c.3422C>A, XM_011540341.1:c.4265C>A, XM_011540342.1:c.4172C>A, XM_011540343.1:c.4112C>A, XM_011540344.1:c.4106C>A, XM_011540345.1:c.3977C>A, XM_011540346.1:c.4442C>A, XM_011540347.1:c.3524C>A, XM_011546575.1:c.4265C>A, XM_011546576.1:c.4172C>A, XM_011546577.1:c.4106C>A, XM_011546578.1:c.3977C>A, XM_011546579.1:c.4442C>A, XM_011546580.1:c.3524C>A, XP_005270333.1:p.Pro1477Gln, XP_006718119.1:p.Pro1141Gln, XP_006725183.1:p.Pro1477Gln, XP_006725185.1:p.Pro1141Gln, XP_011538643.1:p.Pro1422Gln, XP_011538644.1:p.Pro1391Gln, XP_011538645.1:p.Pro1371Gln, XP_011538646.1:p.Pro1369Gln, XP_011538647.1:p.Pro1326Gln, XP_011538648.1:p.Pro1481Gln, XP_011538649.1:p.Pro1175Gln, XP_011544877.1:p.Pro1422Gln, XP_011544878.1:p.Pro1391Gln, XP_011544879.1:p.Pro1369Gln, XP_011544880.1:p.Pro1326Gln, XP_011544881.1:p.Pro1481Gln, XP_011544882.1:p.Pro1175Gln
G > T
SNP
P1481Q
rs2291078 NC_000003.11:g.124458938T>A, NC_000003.12:g.124740091T>A, NG_017037.1:g.14726T>A, NM_000373.3:c.1050T>A, NP_000364.1:p.Val350=, NR_033434.1:n.1002T>A, NR_033437.1:n.1255T>A, XM_005247741.1:c.774T>A, XM_005247742.1:c.516T>A, XM_005247743.1:c.516T>A, XM_005247744.1:c.448+1852T>A, XP_005247798.1:p.Val258=, XP_005247799.1:p.Val172=, XP_005247800.1:p.Val172=, rs17843836, rs199469592
T > -
T > A
SNP
V350V
rs2292997 NC_000003.11:g.183724072G>A, NC_000003.12:g.184006284G>A, NM_001023587.2:c.129+7980C>T, NM_001320032.1:c.-1403+7980C>T, NM_005688.3:c.129+7980C>T, NR_046570.1:n.-54G>A, NR_135125.1:n.315+7980C>T, XM_005247058.1:c.129+7980C>T, XM_005247058.3:c.129+7980C>T, XM_005247059.1:c.129+7980C>T, XM_005247059.3:c.129+7980C>T, XM_005247060.1:c.129+7980C>T, XM_005247061.1:c.129+7980C>T, XM_005247062.1:c.-1403+7980C>T, XM_011512314.1:c.129+7980C>T, XM_011512315.1:c.129+7980C>T, XM_011512316.1:c.-1403+7980C>T, rs17750557, rs56715946
G > A
SNP
rs2293347 NC_000007.13:g.55268916C>T, NC_000007.14:g.55201223C>T, NG_007726.3:g.187192C>T, NM_005228.3:c.2982C>T, NP_005219.2:p.Asp994=, XM_005271746.1:c.2847C>T, XM_005271747.1:c.2823C>T, XP_005271803.1:p.Asp949=, XP_005271804.1:p.Asp941=, rs10435501, rs17337472, rs386564009, rs56649858, rs61150996
C > T
SNP
D994D
rs2297595 NC_000001.10:g.98165091T>C, NC_000001.11:g.97699535T>C, NG_008807.2:g.226525A>G, NM_000110.3:c.496A>G, NP_000101.2:p.Met166Val, XM_005270561.1:c.385A>G, XM_005270562.1:c.496A>G, XM_005270562.3:c.496A>G, XM_005270563.1:c.496A>G, XM_005270564.1:c.496A>G, XM_006710397.2:c.496A>G, XP_005270618.1:p.Met129Val, XP_005270619.1:p.Met166Val, XP_005270619.2:p.Met166Val, XP_005270620.1:p.Met166Val, XP_005270621.1:p.Met166Val, XP_006710460.1:p.Met166Val, rs118014431, rs199469517, rs52827192, rs61243782
T > C
SNP
M166V
rs2302273 NC_000005.10:g.150155692G>A, NC_000005.9:g.149535255G>A, NG_023367.1:g.5168C>T, NM_002609.3:c.-302C>T, XM_005268464.1:c.-448C>T, XM_005268464.2:c.-448C>T, XM_011537659.1:c.-769C>T, rs56934659
G > A
SNP
rs2305948 NC_000004.11:g.55979558C>T, NC_000004.12:g.55113391C>T, NG_012004.1:g.17205G>A, NM_002253.2:c.889G>A, NP_002244.1:p.Val297Ile, rs386564519, rs52830740, rs56532927, rs56973163
C > T
SNP
V297I
rs2306283 NC_000012.11:g.21329738A>G, NC_000012.12:g.21176804A>G, NG_011745.1:g.50611A>G, NM_006446.4:c.388A>G, NP_006437.3:p.Asn130Asp, rs17389242, rs52832430, rs60767041
A > G
SNP
N130D
rs2465403 NC_000008.10:g.120090827G>A, NC_000008.11:g.119078588G>A, NM_006438.3:c.149-11092G>A, XM_005250756.1:c.-59-11092G>A, XM_005250756.2:c.-59-11092G>A, XM_011516795.1:c.-59-11092G>A
G > A
SNP
rs25487 NC_000019.10:g.43551574T>C, NC_000019.9:g.44055726T>C, NG_033799.1:g.29005A>G, NM_006297.2:c.1196A>G, NP_006288.2:p.Gln399Arg, rs11553658, rs17435395, rs3817410, rs386493716, rs57378728
T > C
SNP
Q399R
rs25648 NC_000006.11:g.43738977C>T, NC_000006.12:g.43771240C>T, NG_008732.1:g.6025C>T, NM_001025366.2:c.534C>T, NM_001025367.2:c.534C>T, NM_001025368.2:c.534C>T, NM_001025369.2:c.534C>T, NM_001025370.2:c.534C>T, NM_001033756.2:c.534C>T, NM_001171622.1:c.534C>T, NM_001171623.1:c.-7C>T, NM_001171624.1:c.-7C>T, NM_001171625.1:c.-7C>T, NM_001171626.1:c.-7C>T, NM_001171627.1:c.-7C>T, NM_001171628.1:c.-7C>T, NM_001171629.1:c.-7C>T, NM_001171630.1:c.-7C>T, NM_001204384.1:c.-7C>T, NM_001204385.1:c.534C>T, NM_001287044.1:c.-880C>T, NM_001317010.1:c.-7C>T, NM_003376.5:c.534C>T, NP_001020537.2:p.Ser178=, NP_001020538.2:p.Ser178=, NP_001020539.2:p.Ser178=, NP_001020540.2:p.Ser178=, NP_001020541.2:p.Ser178=, NP_001028928.1:p.Ser178=, NP_001165093.1:p.Ser178=, NP_001191314.1:p.Ser178=, NP_003367.4:p.Ser178=, XM_005249363.1:c.-880C>T
C > T
SNP
S178S
rs2661280 NC_000001.10:g.163113375G>C, NC_000001.11:g.163143585G>C, NG_027731.2:g.183207C>G, NM_001195303.2:c.*3757C>G, NM_001254748.1:c.*3757C>G, NM_001254749.1:c.*3757C>G, NM_003617.3:c.*3757C>G, rs17361582, rs56558782, rs57479307, rs60251204
G > C
SNP
rs2669429 NC_000008.10:g.105463690A>G, NC_000008.11:g.104451462A>G, NG_008840.1:g.20588T>C, NM_001385.2:c.265-58T>C, XM_005250818.1:c.265-58T>C, XM_005250818.2:c.265-58T>C, XM_005250819.1:c.265-58T>C, XM_006716518.2:c.265-3959T>C, XM_011516903.1:c.265-58T>C, XM_011516904.1:c.265-58T>C, rs17246278, rs199469604, rs3750186, rs60334774
A > G
SNP
rs2740574 NC_000007.13:g.99382096C>T, NC_000007.14:g.99784473C>T, NG_008421.1:g.4713G>A, NM_001202855.2:c.-392G>A, NM_017460.5:c.-392G>A, XM_011515841.1:c.-392G>A, XM_011515842.1:c.-392G>A, rs3176920, rs36231114, rs59393892
C > T
SNP
rs2811178
T > C
SNP
rs2847153 NC_000018.10:g.661647G>A, NC_000018.9:g.661647G>A, NG_028255.1:g.9044G>A, NM_001071.2:c.280-499G>A, XM_005258137.1:c.280-499G>A, XM_005258138.1:c.205+3700G>A, rs57253344
G > A
SNP
rs2853542
G > C
SNP
rs2854744 NC_000007.13:g.45961075G>T, NC_000007.14:g.45921476G>T, NG_011508.1:g.4797C>A, NM_000598.4:c.-336C>A, NM_001013398.1:c.-336C>A, XM_005249743.1:c.-336C>A
G > T
SNP
rs2854746 NC_000007.13:g.45960645G>C, NC_000007.14:g.45921046G>C, NG_011508.1:g.5227C>G, NM_000598.4:c.95C>G, NM_001013398.1:c.95C>G, NP_000589.2:p.Ala32Gly, NP_001013416.1:p.Ala32Gly, XM_005249743.1:c.9+86C>G, rs11537918, rs17849244, rs17856581
G > C
SNP
A32G
rs2959023 NC_000008.10:g.105479149A>G, NC_000008.11:g.104466921A>G, NG_008840.1:g.5129T>C, NM_001385.2:c.-1T>C, XM_005250818.1:c.-1T>C, XM_005250818.2:c.-1T>C, XM_005250819.1:c.-1T>C, XM_006716518.2:c.-1T>C, XM_011516903.1:c.-1T>C, XM_011516904.1:c.-1T>C, XR_928507.1:n.112+934A>G, rs199469597, rs58165447
A > G
SNP
rs2960436 NC_000007.13:g.45977282G>A, NC_000007.14:g.45937683G>A, rs11535201, rs17187020, rs56987504
G > A
SNP
rs3025039 NC_000006.11:g.43752536C>T, NC_000006.12:g.43784799C>T, NG_008732.1:g.19584C>T, NM_001025366.2:c.*237C>T, NM_001025367.2:c.*237C>T, NM_001025368.2:c.*237C>T, NM_001025369.2:c.*253C>T, NM_001025370.2:c.*237C>T, NM_001033756.2:c.*171C>T, NM_001171622.1:c.*237C>T, NM_001171623.1:c.*237C>T, NM_001171624.1:c.*237C>T, NM_001171625.1:c.*237C>T, NM_001171626.1:c.*237C>T, NM_001171627.1:c.*253C>T, NM_001171628.1:c.*237C>T, NM_001171629.1:c.*171C>T, NM_001171630.1:c.*237C>T, NM_001204384.1:c.*237C>T, NM_001204385.1:c.*237C>T, NM_001287044.1:c.*237C>T, NM_001317010.1:c.*171C>T, NM_003376.5:c.*237C>T, XM_005249363.1:c.*237C>T, rs11575898
C > T
SNP
rs307805 NC_000005.10:g.180650487T>C, NC_000005.9:g.180077487T>C, NG_011536.1:g.4138A>G, NM_002020.4:c.-942A>G, NM_182925.4:c.-942A>G, XM_011534482.1:c.-942A>G, XM_011534483.1:c.-289A>G, rs1309960, rs57113127
T > C
SNP
rs307822 NC_000005.10:g.180601717T>C, NC_000005.9:g.180028717T>C, NG_011536.1:g.52908A>G, NM_182925.4:c.*1475A>G, XM_011534477.1:c.*1475A>G, XM_011534478.1:c.*1475A>G, XM_011534482.1:c.*1475A>G, XM_011534483.1:c.*1475A>G, XM_011534484.1:c.*1475A>G, rs1309977
T > C
SNP
rs3110697 NC_000007.13:g.45955029A>G, NC_000007.14:g.45915430A>G, NG_011508.1:g.10843T>C, NM_000598.4:c.751-485T>C, NM_001013398.1:c.769-485T>C, XM_005249743.1:c.460-485T>C, rs386579587, rs59896265
A > G
SNP
rs3130 NC_000004.11:g.15969938T>C, NC_000004.12:g.15968315T>C, NG_011696.1:g.120686A>G, NM_001145847.1:c.*1078A>G, NM_001145848.1:c.*1078A>G, NM_001145849.1:c.*1078A>G, NM_001145850.1:c.*1078A>G, NM_001145851.1:c.*1078A>G, NM_001145852.1:c.*1078A>G, NM_006017.2:c.*1078A>G, XM_005248194.1:c.*1078A>G, XM_005248195.1:c.*1078A>G, XM_005248195.3:c.*1078A>G, XM_005248196.1:c.*1078A>G, XM_005248196.3:c.*1078A>G, XM_006713974.2:c.*1078A>G, XM_011513890.1:c.*1078A>G, XM_011513891.1:c.*1078A>G, XM_011513892.1:c.*1078A>G, XM_011513893.1:c.*1078A>G, XM_011513894.1:c.*1078A>G, XM_011513895.1:c.*1078A>G, XM_011513896.1:c.*1078A>G, XM_011513897.1:c.*1078A>G, XM_011513900.1:c.*1078A>G, XM_011513901.1:c.*1078A>G, XM_011513902.1:c.*1078A>G, XM_011513903.1:c.*1078A>G, XM_011513904.1:c.*1078A>G, rs11552440, rs17477709, rs3194369, rs56565902, rs60023481, rs60646405, rs7752
T > C
SNP
rs3136228 NC_000002.11:g.48009816T>G, NC_000002.12:g.47782677T>G, NG_007111.1:g.4531T>G, NM_000179.2:c.-557T>G, NM_001281492.1:c.-557T>G, NM_001281493.1:c.-1293T>G, NM_001281494.1:c.-2071T>G, XM_005264271.1:c.-1599T>G, XM_011532798.1:c.-1253T>G, XM_011532799.1:c.-1139T>G, XM_011532800.1:c.-592T>G, rs58009211
T > G
SNP
rs3212948 NC_000019.10:g.45421104G>C, NC_000019.9:g.45924362G>C, NG_015839.2:g.62725C>G, NM_001166049.1:c.321+74C>G, NM_001983.3:c.321+74C>G, NM_202001.2:c.321+74C>G, XM_005258634.1:c.321+74C>G, XM_005258635.1:c.321+74C>G, XM_005258635.2:c.321+74C>G, XM_005258636.1:c.321+74C>G, XM_005258636.3:c.321+74C>G, XM_005258637.1:c.321+74C>G, XM_005258638.1:c.106-677C>G, XM_011526610.1:c.321+74C>G, rs3737560, rs57311942
G > C
SNP
rs3212986 NC_000019.10:g.45409478C>A, NC_000019.9:g.45912736C>A, NG_015839.2:g.74351G>T, NM_001166049.1:c.*197G>T, NM_001297590.1:c.1516C>A, NM_001983.3:c.*197G>T, NM_012099.1:c.1510C>A, NP_001284519.1:p.Gln506Lys, NP_036231.1:p.Gln504Lys, XM_005258425.1:c.1516C>A, XM_005258638.1:c.*197G>T, XP_005258482.1:p.Gln506Lys, rs386580934, rs60333438
C > A
C > T
SNP
Q506K
rs3218592 NC_000006.11:g.111643838C>T, NC_000006.12:g.111322635C>T, NM_001286431.1:c.8051G>A, NM_001286432.1:c.8051G>A, NM_002912.4:c.8285G>A, NP_001273360.1:p.Arg2684Gln, NP_001273361.1:p.Arg2684Gln, NP_002903.3:p.Arg2762Gln, XM_005267088.1:c.8051G>A, XM_005267089.1:c.7919G>A, XM_006715543.2:c.8285G>A, XM_006715544.2:c.8051G>A, XM_011536028.1:c.8366G>A, XM_011536029.1:c.8363G>A, XM_011536030.1:c.8288G>A, XM_011536031.1:c.8132G>A, XM_011536032.1:c.8132G>A, XP_005267145.1:p.Arg2684Gln, XP_005267146.1:p.Arg2640Gln, XP_006715606.1:p.Arg2762Gln, XP_006715607.1:p.Arg2684Gln, XP_011534330.1:p.Arg2789Gln, XP_011534331.1:p.Arg2788Gln, XP_011534332.1:p.Arg2763Gln, XP_011534333.1:p.Arg2711Gln, XP_011534334.1:p.Arg2711Gln, XR_942871.1:n.2046-15110C>T, rs17511399, rs386581148, rs52802396
C > T
SNP
R2684Q
rs329007 NC_000018.10:g.9522608G>A, NC_000018.9:g.9522606G>A, NM_006788.3:c.1053+99G>A, XM_005258080.1:c.1053+99G>A, rs59437962
G > A
SNP
rs34116584 NC_000002.11:g.241808314C>A, NC_000002.11:g.241808314C>G, NC_000002.11:g.241808314C>T, NC_000002.12:g.240868897C>A, NC_000002.12:g.240868897C>G, NC_000002.12:g.240868897C>T, NG_008005.1:g.5153C>A, NG_008005.1:g.5153C>G, NG_008005.1:g.5153C>T, NM_000030.2:c.32C>A, NM_000030.2:c.32C>G, NM_000030.2:c.32C>T, NP_000021.1:p.Pro11Arg, NP_000021.1:p.Pro11His, NP_000021.1:p.Pro11Leu, XR_924060.1:n.405+1336G>A, XR_924060.1:n.405+1336G>C, XR_924060.1:n.405+1336G>T
C > A
C > G
C > T
SNP
P11H/L/R
VIP No Clinical Annotations available No Variant Annotations available
rs34489327
TTAAAG > -
unknown
rs351855 NC_000005.10:g.177093242G>A, NC_000005.9:g.176520243G>A, NG_012067.1:g.11323G>A, NM_001291980.1:c.1097+65G>A, NM_002011.4:c.1162G>A, NM_022963.3:c.1058-90G>A, NM_213647.2:c.1162G>A, NP_002002.3:p.Gly388Arg, NP_998812.1:p.Gly388Arg, XM_005265837.1:c.1258G>A, XM_005265838.1:c.1162G>A, XM_005265838.2:c.1162G>A, XM_005265839.1:c.1097+65G>A, XM_011534464.1:c.1255G>A, XM_011534465.1:c.844G>A, XP_005265894.1:p.Gly420Arg, XP_005265895.1:p.Gly388Arg, XP_011532766.1:p.Gly419Arg, XP_011532767.1:p.Gly282Arg, XR_941090.1:n.1207G>A, rs117475361, rs56695235
G > A
SNP
G388R
rs367619008
T > C
SNP
K63E
rs370457585 NC_000001.10:g.40126852C>G, NC_000001.10:g.40126852C>T, NC_000001.11:g.39661180C>G, NC_000001.11:g.39661180C>T, NM_032526.2:c.640G>A, NM_032526.2:c.640G>C, NP_115915.1:p.Ala214Pro, NP_115915.1:p.Ala214Thr
C > G
C > T
SNP
A214P/T
rs371194629 NC_000006.11:g.29798581_29798582insATTTGT, NC_000006.11:g.29798581_29798582insATTTGTTCATGCCT, NC_000006.12:g.29830804_29830805insATTTGT, NC_000006.12:g.29830804_29830805insATTTGTTCATGCCT, NG_029039.1:g.8826_8827insATTTGT, NG_029039.1:g.8826_8827insATTTGTTCATGCCT, NM_002127.5:c.*65_*66insATTTGT, NM_002127.5:c.*65_*66insATTTGTTCATGCCT, NT_113891.3:g.1314366_1314381insATTTGT, NT_113891.3:g.1314366_1314381insATTTGTTCATGCCT, NT_167244.2:g.1096416_1096431insATTTGT, NT_167244.2:g.1096416_1096431insATTTGTTCATGCCT, NT_167245.1:g.1099202_1099203insATTTGT, NT_167245.1:g.1099202_1099203insATTTGTTCATGCCT, NT_167245.2:g.1093617_1093618insATTTGT, NT_167245.2:g.1093617_1093618insATTTGTTCATGCCT, NT_167246.1:g.1098910_1098911insATTTGT, NT_167246.1:g.1098910_1098911insATTTGTTCATGCCT, NT_167246.2:g.1093290_1093291insATTTGT, NT_167246.2:g.1093290_1093291insATTTGTTCATGCCT, NT_167247.1:g.1098860_1098861insATTTGT, NT_167247.1:g.1098860_1098861insATTTGTTCATGCCT, NT_167247.2:g.1093275_1093276insATTTGT, NT_167247.2:g.1093275_1093276insATTTGTTCATGCCT, NT_167248.2:g.1093570_1093585insATTTGT, NT_167248.2:g.1093570_1093585insATTTGTTCATGCCT, NT_167249.2:g.1136835_1136850insATTTGT, NT_167249.2:g.1136835_1136850insATTTGTTCATGCCT, XM_005249055.1:c.*65_*66insATTTGT, XM_005249055.1:c.*65_*66insATTTGTTCATGCCT, XM_005249056.1:c.*65_*66insATTTGT, XM_005249056.1:c.*65_*66insATTTGTTCATGCCT, XM_005249057.1:c.*280_*281insATTTGT, XM_005249057.1:c.*280_*281insATTTGTTCATGCCT, XM_005249058.1:c.*65_*66insATTTGT, XM_005249058.1:c.*65_*66insATTTGTTCATGCCT, XM_005272810.1:c.*65_*67insATTTGT, XM_005272810.1:c.*65_*67insATTTGTTCATGCCT, XM_005274964.1:c.*65_*66insATTTGT, XM_005274964.1:c.*65_*66insATTTGTTCATGCCT, XM_005274965.1:c.*65_*66insATTTGT, XM_005274965.1:c.*65_*66insATTTGTTCATGCCT, XM_005274966.1:c.*280_*281insATTTGT, XM_005274966.1:c.*280_*281insATTTGTTCATGCCT, XM_005274967.1:c.*65_*66insATTTGT, XM_005274967.1:c.*65_*66insATTTGTTCATGCCT, XM_005275119.1:c.*65_*66insATTTGT, XM_005275119.1:c.*65_*66insATTTGTTCATGCCT, XM_005275120.1:c.*65_*66insATTTGT, XM_005275120.1:c.*65_*66insATTTGTTCATGCCT, XM_005275121.1:c.*280_*281insATTTGT, XM_005275121.1:c.*280_*281insATTTGTTCATGCCT, XM_005275122.1:c.*65_*66insATTTGT, XM_005275122.1:c.*65_*66insATTTGTTCATGCCT, XM_005275246.1:c.*65_*66insATTTGT, XM_005275246.1:c.*65_*66insATTTGTTCATGCCT, XM_005275247.1:c.*65_*66insATTTGT, XM_005275247.1:c.*65_*66insATTTGTTCATGCCT, XM_005275248.1:c.*280_*281insATTTGT, XM_005275248.1:c.*280_*281insATTTGTTCATGCCT, XM_005275249.1:c.*65_*66insATTTGT, XM_005275249.1:c.*65_*66insATTTGTTCATGCCT, XM_005275394.1:c.*76_*80insATTTGT, XM_005275394.1:c.*76_*80insATTTGTTCATGCCT, XM_005275549.1:c.*76_*80insATTTGT, XM_005275549.1:c.*76_*80insATTTGTTCATGCCT, XM_005275550.1:c.*76_*80insATTTGT, XM_005275550.1:c.*76_*80insATTTGTTCATGCCT, XM_005275551.1:c.*291_*295insATTTGT, XM_005275551.1:c.*291_*295insATTTGTTCATGCCT, XM_005275552.1:c.*76_*80insATTTGT, XM_005275552.1:c.*76_*80insATTTGTTCATGCCT, XM_011547651.1:c.*65_*66insATTTGT, XM_011547651.1:c.*65_*66insATTTGTTCATGCCT, XM_011547882.1:c.*65_*66insATTTGT, XM_011547882.1:c.*65_*66insATTTGTTCATGCCT, XM_011548048.1:c.*65_*66insATTTGT, XM_011548048.1:c.*65_*66insATTTGTTCATGCCT, XM_011548236.1:c.*65_*80insATTTGT, XM_011548236.1:c.*65_*80insATTTGTTCATGCCT, XM_011548237.1:c.*65_*80insATTTGT, XM_011548237.1:c.*65_*80insATTTGTTCATGCCT, XM_011548430.1:c.*65_*80insATTTGT, XM_011548430.1:c.*65_*80insATTTGTTCATGCCT, XM_011548431.1:c.*65_*80insATTTGT, XM_011548431.1:c.*65_*80insATTTGTTCATGCCT, XR_241896.1:n.1692-1_1692insATTTGT, XR_241896.1:n.1692-1_1692insATTTGTTCATGCCT, XR_246963.1:n.1612-1_1613insATTTGT, XR_246963.1:n.1612-1_1613insATTTGTTCATGCCT, XR_247353.1:n.1692-1_1692insATTTGT, XR_247353.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247370.1:n.1692-1_1692insATTTGT, XR_247370.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247389.1:n.1692-1_1692insATTTGT, XR_247389.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247402.1:n.1622_1626insATTTGT, XR_247402.1:n.1622_1626insATTTGTTCATGCCT, XR_247423.1:n.1680_1684insATTTGT, XR_247423.1:n.1680_1684insATTTGTTCATGCCT
- > ATTTGT
- > ATTTGTTCATGCCT
indel
rs3740066 NC_000010.10:g.101604207C>T, NC_000010.11:g.99844450C>T, NG_011798.1:g.66745C>T, NM_000392.4:c.3972C>T, NP_000383.1:p.Ile1324=, XM_005269536.1:c.3693C>T, XM_006717630.2:c.3276C>T, XP_005269593.1:p.Ile1231=, XP_006717693.1:p.Ile1092=, XR_945604.1:n.4161C>T, XR_945605.1:n.4036C>T, rs12780340, rs17216303, rs59292214
C > T
SNP
I1324I
rs374150125 NC_000001.10:g.40129002G>A, NC_000001.11:g.39663330G>A, NM_032526.2:c.538C>T, NP_115915.1:p.Arg180Ter
G > A
SNP
R180*
rs3749438 NC_000003.11:g.183705184G>A, NC_000003.12:g.183987396G>A, NM_001023587.2:c.591+374C>T, NM_001320032.1:c.-941+374C>T, NM_005688.3:c.591+374C>T, NR_135125.1:n.777+374C>T, XM_005247058.1:c.591+374C>T, XM_005247058.3:c.591+374C>T, XM_005247059.1:c.591+374C>T, XM_005247059.3:c.591+374C>T, XM_005247060.1:c.591+374C>T, XM_005247061.1:c.591+374C>T, XM_005247062.1:c.-941+374C>T, XM_011512314.1:c.591+374C>T, XM_011512315.1:c.591+374C>T, XM_011512316.1:c.-941+374C>T, rs117658700, rs17218232, rs60372003
G > A
SNP
rs376073289
C > A
C > T
SNP
R208L/Q
rs3772809 NC_000003.11:g.124462824A>G, NC_000003.12:g.124743977A>G, NG_017037.1:g.18612A>G, NM_000373.3:c.1336A>G, NP_000364.1:p.Ile446Val, NR_033434.1:n.1288A>G, NR_033437.1:n.1541A>G, XM_005247741.1:c.1060A>G, XM_005247742.1:c.802A>G, XM_005247743.1:c.802A>G, XM_005247744.1:c.511A>G, XP_005247798.1:p.Ile354Val, XP_005247799.1:p.Ile268Val, XP_005247800.1:p.Ile268Val, XP_005247801.1:p.Ile171Val, rs17843849, rs52824449
A > -
A > G
SNP
I446V
rs3772810 NC_000003.11:g.124462959A>G, NC_000003.12:g.124744112A>G, NG_017037.1:g.18747A>G, NM_000373.3:c.*28A>G, NR_033434.1:n.1423A>G, NR_033437.1:n.1676A>G, XM_005247741.1:c.*28A>G, XM_005247742.1:c.*28A>G, XM_005247743.1:c.*28A>G, XM_005247744.1:c.*28A>G, rs17843850
A > -
A > G
SNP
rs3812718 AB093548.1:c.603-91G>A, NC_000002.11:g.166909544C>T, NC_000002.12:g.166053034C>T, NG_011906.1:g.25606G>A, NM_001165963.1:c.603-91G>A, NM_001165964.1:c.603-91G>A, NM_001202435.1:c.603-91G>A, NM_006920.4:c.603-91G>A, XM_011511598.1:c.603-91G>A, XM_011511599.1:c.603-91G>A, XM_011511600.1:c.603-91G>A, XM_011511601.1:c.603-91G>A, XM_011511602.1:c.603-91G>A, XM_011511603.1:c.603-91G>A, XM_011511604.1:c.603-91G>A, XM_011511605.1:c.603-91G>A, XM_011511606.1:c.603-91G>A, XM_011511607.1:c.603-91G>A, XR_922981.1:n.787-91G>A, rs57229005
C > T
SNP
rs3917412 NC_000001.10:g.169700502T>C, NC_000001.11:g.169731361T>C, NG_012124.1:g.7719A>G, NM_000450.2:c.529+474A>G, rs56521004, rs57050939, rs60581130
T > C
SNP
rs3918289
G > A
G > C
SNP
N635N
rs3918290 NC_000001.10:g.97915614C>T, NC_000001.11:g.97450058C>T, NG_008807.2:g.476002G>A, NM_000110.3:c.1905+1G>A, XM_005270561.1:c.1794+1G>A, XM_005270562.1:c.1689+1G>A, XM_005270562.3:c.1689+1G>A, XM_005270563.1:c.1905+1G>A, XM_006710397.2:c.1905+1G>A, rs199469548, rs386589337
C > G
C > T
SNP
rs4073 NC_000004.11:g.74606024A>T, NC_000004.12:g.73740307A>T, NG_029889.1:g.4802A>T, NM_000584.3:c.-352A>T
A > T
SNP
rs4149056 NC_000012.11:g.21331549T>C, NC_000012.12:g.21178615T>C, NG_011745.1:g.52422T>C, NM_006446.4:c.521T>C, NP_006437.3:p.Val174Ala, rs52816141, rs60037639
T > C
SNP
V174A
rs4243761 NC_000015.10:g.26037644G>T, NC_000015.9:g.26282791G>T, NR_040082.1:n.896-11481G>T, rs17558024, rs61389947
G > T
SNP
rs4402960 NC_000003.11:g.185511687G>T, NC_000003.12:g.185793899G>T, NG_011602.1:g.36141C>A, NM_001007225.1:c.239+29254C>A, NM_001291869.1:c.239+29254C>A, NM_001291872.1:c.50+27113C>A, NM_001291873.1:c.50+27113C>A, NM_001291874.1:c.50+27113C>A, NM_001291875.1:c.-106+27113C>A, NM_006548.4:c.239+29254C>A, XM_005247073.1:c.50+27113C>A, XM_005247074.1:c.50+27113C>A, XM_005247075.1:c.50+27113C>A, XM_011512338.1:c.239+29254C>A, XM_011512339.1:c.239+29254C>A, XM_011512341.1:c.239+29254C>A, XR_427358.2:n.318+29254C>A, rs58419650
G > T
SNP
rs4426527 NC_000002.11:g.241817516A>G, NC_000002.12:g.240878099A>G, NG_008005.1:g.14355A>G, NM_000030.2:c.1020A>G, NP_000021.1:p.Ile340Met, rs17501831
A > G
SNP
I340M
rs45445694 NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.9:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5043_5070CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NM_001012716.2:c.*34+169_*34+196CGGGACGGAGGCAGGCCAAGTGGCGCGG[2][3][4][7][8][9], NM_001071.2:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258137.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258138.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], rs34743033 (retired)
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
microsatellite
rs45589337 NC_000001.10:g.98144726T>C, NC_000001.11:g.97679170T>C, NG_008807.2:g.246890A>G, NM_000110.3:c.775A>G, NP_000101.2:p.Lys259Glu, XM_005270561.1:c.664A>G, XM_005270562.1:c.775A>G, XM_005270562.3:c.775A>G, XM_005270563.1:c.775A>G, XM_005270564.1:c.775A>G, XM_006710397.2:c.775A>G, XP_005270618.1:p.Lys222Glu, XP_005270619.1:p.Lys259Glu, XP_005270619.2:p.Lys259Glu, XP_005270620.1:p.Lys259Glu, XP_005270621.1:p.Lys259Glu, XP_006710460.1:p.Lys259Glu, rs59034382
T > C
SNP
K259E
rs4646 NC_000015.10:g.51210647A>C, NC_000015.9:g.51502844A>C, NG_007982.1:g.132952T>G, NM_000103.3:c.*161T>G, NM_031226.2:c.*161T>G, XM_005254190.1:c.*161T>G, XM_005254191.1:c.*161T>G, XM_005254192.1:c.*161T>G, XR_932222.1:n.99-67336A>C, rs16964193, rs3191019, rs58335330
A > C
SNP
rs470119 NC_000022.10:g.50966914T>C, NC_000022.11:g.50528485T>C, NG_011860.1:g.6601A>G, NG_016235.1:g.2955A>G, NM_001113755.2:c.516+27A>G, NM_001113756.2:c.516+27A>G, NM_001257988.1:c.516+27A>G, NM_001257989.1:c.516+27A>G, NM_001953.4:c.516+27A>G, rs56469193, rs58161200
T > C
T > G
SNP
rs4880 NC_000006.11:g.160113872A>G, NC_000006.12:g.159692840A>G, NG_008729.1:g.5482T>C, NM_000636.2:c.47T>C, NM_001024465.1:c.47T>C, NM_001024466.1:c.47T>C, NP_000627.2:p.Val16Ala, NP_001019636.1:p.Val16Ala, NP_001019637.1:p.Val16Ala, rs1141717, rs11551083, rs116851270, rs17362379, rs17405198, rs17856520, rs1799725, rs3205539, rs386596107
A > G
SNP
V16A
rs4932551 NC_000015.10:g.91528728G>C, NC_000015.9:g.92071958G>C, rs17772730, rs56529178, rs57899076, rs58182249
G > C
SNP
rs4970722 NC_000001.10:g.98352053A>T, NC_000001.11:g.97886497A>T, NG_008807.2:g.39563T>A, NM_000110.3:c.40-3123T>A, NM_001160301.1:c.40-3123T>A, XM_005270561.1:c.39+34387T>A, XM_005270562.1:c.40-3123T>A, XM_005270562.3:c.40-3123T>A, XM_005270563.1:c.40-3123T>A, XM_005270564.1:c.40-3123T>A, XM_006710397.2:c.40-3123T>A, rs56417891, rs60365769, rs61301156
A > T
SNP
rs5009910 NC_000002.11:g.31249014T>C, NC_000002.12:g.31026148T>C, NM_001253826.1:c.315-59846A>G, NM_001253827.1:c.70-33141A>G, NM_024572.3:c.130-33141A>G, NR_045602.1:n.903-33141A>G, XM_005264559.1:c.25-33141A>G, XM_011533104.1:c.448-33141A>G, XM_011533105.1:c.70-33141A>G, XM_011533106.1:c.43-33141A>G, rs56597185, rs59566663, rs60531112
T > C
SNP
rs501415 NC_000018.10:g.56651611A>G, NC_000018.9:g.54318842A>G, NM_015285.2:c.-20+35A>G, NM_052834.2:c.-20+35A>G, XM_005266673.1:c.-20+35A>G, XM_006722431.1:c.-207A>G, XM_011525888.1:c.-20+35A>G
A > G
SNP
rs55674432 NC_000001.10:g.97564172C>A, NC_000001.11:g.97098616C>A, NG_008807.2:g.827444G>T, NM_000110.3:c.2639G>T, NP_000101.2:p.Gly880Val, NR_046590.1:n.64+2630C>A, XM_005270561.1:c.2528G>T, XM_005270562.1:c.2423G>T, XM_005270562.3:c.2423G>T, XP_005270618.1:p.Gly843Val, XP_005270619.1:p.Gly808Val, XP_005270619.2:p.Gly808Val
C > A
SNP
G880V
rs55886062 NC_000001.10:g.97981343A>C, NC_000001.11:g.97515787A>C, NG_008807.2:g.410273T>G, NM_000110.3:c.1679T>G, NP_000101.2:p.Ile560Ser, XM_005270561.1:c.1568T>G, XM_005270562.1:c.1524+33773T>G, XM_005270562.3:c.1524+33773T>G, XM_005270563.1:c.1679T>G, XM_005270564.1:c.1679T>G, XM_006710397.2:c.1679T>G, XP_005270618.1:p.Ile523Ser, XP_005270620.1:p.Ile560Ser, XP_005270621.1:p.Ile560Ser, XP_006710460.1:p.Ile560Ser, rs199469542
A > C
SNP
I560S
rs55971861
T > G
SNP
I636L
rs56038477 NC_000001.10:g.98039419C>T, NC_000001.11:g.97573863C>T, NG_008807.2:g.352197G>A, NM_000110.3:c.1236G>A, NP_000101.2:p.Glu412=, XM_005270561.1:c.1125G>A, XM_005270562.1:c.1236G>A, XM_005270562.3:c.1236G>A, XM_005270563.1:c.1236G>A, XM_005270564.1:c.1236G>A, XM_006710397.2:c.1236G>A, XP_005270618.1:p.Glu375=, XP_005270619.1:p.Glu412=, XP_005270619.2:p.Glu412=, XP_005270620.1:p.Glu412=, XP_005270621.1:p.Glu412=, XP_006710460.1:p.Glu412=, rs199469533, rs61730901
C > T
SNP
E412E
rs56160474 NC_000001.10:g.97544258A>G, NC_000001.11:g.97078702A>G, NG_008807.2:g.847358T>C, NM_000110.3:c.*274T>C, XM_005270561.1:c.*274T>C, XM_005270562.1:c.*274T>C, XM_005270562.3:c.*274T>C
A > G
SNP
rs56276561
C > T
SNP
rs56293913
A > G
SNP
rs5906072 NC_000023.10:g.45640507T>C, NC_000023.11:g.45781104T>C, NW_004070879.1:g.105769T>C, rs59017433, rs59105359, rs6609373
T > C
SNP
rs59086055 NC_000001.10:g.97915746G>A, NC_000001.11:g.97450190G>A, NG_008807.2:g.475870C>T, NM_000110.3:c.1774C>T, NP_000101.2:p.Arg592Trp, XM_005270561.1:c.1663C>T, XM_005270562.1:c.1558C>T, XM_005270562.3:c.1558C>T, XM_005270563.1:c.1774C>T, XM_006710397.2:c.1774C>T, XP_005270618.1:p.Arg555Trp, XP_005270619.1:p.Arg520Trp, XP_005270619.2:p.Arg520Trp, XP_005270620.1:p.Arg592Trp, XP_006710460.1:p.Arg592Trp
G > A
SNP
R592W
rs5934731 NC_000023.10:g.9935844C>T, NC_000023.11:g.9967804C>T, NM_001195081.1:c.447C>T, NP_001182010.1:p.Tyr149=, XM_006724448.2:c.579C>T, XP_006724511.2:p.Tyr193=, rs56455686, rs57784312, rs6640581
C > T
SNP
Y149Y
rs60139309 NC_000001.10:g.97658665T>C, NC_000001.11:g.97193109T>C, NG_008807.2:g.732951A>G, NM_000110.3:c.2582A>G, NP_000101.2:p.Lys861Arg, NR_046590.1:n.65-72305T>C, XM_005270561.1:c.2471A>G, XM_005270562.1:c.2366A>G, XM_005270562.3:c.2366A>G, XM_006710397.2:c.2582A>G, XP_005270618.1:p.Lys824Arg, XP_005270619.1:p.Lys789Arg, XP_005270619.2:p.Lys789Arg, XP_006710460.1:p.Lys861Arg, rs61730905
T > C
SNP
K861R
rs60511679
A > C
SNP
V732G
rs61622928
C > T
SNP
M406I
rs61757362 NC_000001.10:g.97544662G>A, NC_000001.11:g.97079106G>A, NG_008807.2:g.846954C>T, NM_000110.3:c.2948C>T, NP_000101.2:p.Thr983Ile, XM_005270561.1:c.2837C>T, XM_005270562.1:c.2732C>T, XM_005270562.3:c.2732C>T, XP_005270618.1:p.Thr946Ile, XP_005270619.1:p.Thr911Ile, XP_005270619.2:p.Thr911Ile
G > A
SNP
T983I
rs61764370 NC_000012.11:g.25360224A>C, NC_000012.12:g.25207290A>C, NG_007524.1:g.48631T>G, NM_004985.4:c.*2505T>G, NM_033360.3:c.*2626T>G, XM_011520653.1:c.*2505T>G, rs200812391
A > C
SNP
rs6458232 NC_000006.11:g.41629726C>A, NC_000006.12:g.41661988C>A, rs59690886
C > A
SNP
rs662 NC_000007.13:g.94937446T>C, NC_000007.14:g.95308134T>C, NG_008779.1:g.21439A>G, NM_000446.5:c.575A>G, NP_000437.3:p.Gln192Arg, rs11567868, rs13306697, rs17773773, rs386603940, rs60480675
T > C
SNP
Q192R
rs664393 NC_000013.10:g.29071001T>C, NC_000013.11:g.28496864T>C, NG_012003.1:g.3265A>G, NM_001159920.1:c.-2021A>G, NM_001160030.1:c.-2021A>G, NM_001160031.1:c.-2021A>G, NM_002019.4:c.-2021A>G, XM_011535014.1:c.-2021A>G, rs59180014
T > C
SNP
rs6668296
C > T
SNP
rs67376798 NC_000001.10:g.97547947T>A, NC_000001.11:g.97082391T>A, NG_008807.2:g.843669A>T, NM_000110.3:c.2846A>T, NP_000101.2:p.Asp949Val, XM_005270561.1:c.2735A>T, XM_005270562.1:c.2630A>T, XM_005270562.3:c.2630A>T, XP_005270618.1:p.Asp912Val, XP_005270619.1:p.Asp877Val, XP_005270619.2:p.Asp877Val, rs199469564, rs386467430, rs67376799
T > A
SNP
D949V
rs6752303 NC_000002.11:g.31247485T>C, NC_000002.12:g.31024619T>C, NM_001253826.1:c.315-58317A>G, NM_001253827.1:c.70-31612A>G, NM_024572.3:c.130-31612A>G, NR_045602.1:n.903-31612A>G, XM_005264559.1:c.25-31612A>G, XM_011533104.1:c.448-31612A>G, XM_011533105.1:c.70-31612A>G, XM_011533106.1:c.43-31612A>G, rs111184598, rs56566923, rs56952366, rs61068192
T > C
SNP
rs6769511 NC_000003.11:g.185530290T>C, NC_000003.12:g.185812502T>C, NG_011602.1:g.17538A>G, NM_001007225.1:c.239+10651A>G, NM_001291869.1:c.239+10651A>G, NM_001291872.1:c.50+8510A>G, NM_001291873.1:c.50+8510A>G, NM_001291874.1:c.50+8510A>G, NM_001291875.1:c.-106+8510A>G, NM_006548.4:c.239+10651A>G, XM_005247073.1:c.50+8510A>G, XM_005247074.1:c.50+8510A>G, XM_005247075.1:c.50+8510A>G, XM_011512338.1:c.239+10651A>G, XM_011512339.1:c.239+10651A>G, XM_011512341.1:c.239+10651A>G, XR_427358.2:n.318+10651A>G, rs17436166, rs57496207
T > C
SNP
rs6877011 NC_000005.10:g.180602471C>G, NC_000005.9:g.180029471C>G, NG_011536.1:g.52154G>C, NM_182925.4:c.*721G>C, XM_011534477.1:c.*721G>C, XM_011534478.1:c.*721G>C, XM_011534482.1:c.*721G>C, XM_011534483.1:c.*721G>C, XM_011534484.1:c.*721G>C, rs59862001
C > G
SNP
rs699947 NC_000006.11:g.43736389A>C, NC_000006.12:g.43768652A>C, NG_008732.1:g.3437A>C, NM_001025366.2:c.-2055A>C, NM_001025367.2:c.-2055A>C, NM_001025368.2:c.-2055A>C, NM_001025369.2:c.-2055A>C, NM_001025370.2:c.-2055A>C, NM_001033756.2:c.-2055A>C, NM_001171622.1:c.-2055A>C, NM_001171623.1:c.-2595A>C, NM_001171624.1:c.-2595A>C, NM_001171625.1:c.-2595A>C, NM_001171626.1:c.-2595A>C, NM_001171627.1:c.-2595A>C, NM_001171628.1:c.-2595A>C, NM_001171629.1:c.-2595A>C, NM_001171630.1:c.-2595A>C, NM_001204384.1:c.-2595A>C, NM_001204385.1:c.-2055A>C, NM_001317010.1:c.-2595A>C, NM_003376.5:c.-2055A>C, rs1310065, rs36208051, rs61399354
A > C
SNP
rs7121 NC_000020.10:g.57478807C>T, NC_000020.11:g.58903752C>T, NG_016194.1:g.69013C>T, NM_000516.5:c.393C>T, NM_001077488.3:c.396C>T, NM_001077489.3:c.348C>T, NM_001077490.2:c.*254C>T, NM_001309840.1:c.216C>T, NM_001309861.1:c.216C>T, NM_016592.3:c.*299C>T, NM_080425.3:c.2322C>T, NM_080426.3:c.351C>T, NP_000507.1:p.Ile131=, NP_001070956.1:p.Ile132=, NP_001070957.1:p.Ile116=, NP_001296769.1:p.Ile72=, NP_001296790.1:p.Ile72=, NP_536350.2:p.Ile774=, NP_536351.1:p.Ile117=, NR_003259.1:n.483C>T, XM_005260396.1:c.336C>T, XM_005260397.1:c.297C>T, XM_005260398.1:c.252C>T, XM_005260399.1:c.171C>T, XM_005260400.1:c.171C>T, XM_005260401.1:c.171C>T, XM_005260402.1:c.219C>T, XP_005260453.1:p.Ile112=, XP_005260454.1:p.Ile99=, XP_005260455.1:p.Ile84=, XP_005260456.1:p.Ile57=, XP_005260457.1:p.Ile57=, XP_005260458.1:p.Ile57=, XP_005260459.1:p.Ile73=, XR_244140.1:n.1443C>T, rs1053389, rs17829840, rs3171206, rs3730167, rs61041002
C > -
C > T
SNP
I131I
rs715171 NC_000023.10:g.9341848C>T, NC_000023.11:g.9373808C>T, rs61410664
C > T
SNP
rs7170769 NC_000015.10:g.91526975C>T, NC_000015.9:g.92070205C>T, rs58543442
C > T
SNP
rs717620 NC_000010.10:g.101542578C>T, NC_000010.11:g.99782821C>T, NG_011798.1:g.5116C>T, NM_000392.4:c.-24C>T, XM_005269536.1:c.-24C>T, XM_006717631.2:c.-24C>T, XM_011539291.1:c.-24C>T, XR_945604.1:n.166C>T, XR_945605.1:n.168C>T, rs17216163, rs386485129, rs58371376
C > T
SNP
rs7194667 NC_000016.10:g.48208987T>G, NC_000016.9:g.48242898T>G, NG_011522.1:g.31191A>C, NM_032583.3:c.1609-491A>C, NM_033151.3:c.1609-491A>C, NM_145186.2:c.1609-491A>C, XM_005256208.1:c.1609-491A>C, XM_005256209.1:c.1609-491A>C, XM_005256210.1:c.1609-491A>C, XM_011523396.1:c.1411-491A>C, XM_011523397.1:c.652-491A>C, XR_243432.1:n.1714-491A>C, rs61621252
T > G
SNP
rs72547601 NC_000001.10:g.97544677T>C, NC_000001.11:g.97079121T>C, NG_008807.2:g.846939A>G, NM_000110.3:c.2933A>G, NP_000101.2:p.His978Arg, XM_005270561.1:c.2822A>G, XM_005270562.1:c.2717A>G, XM_005270562.3:c.2717A>G, XP_005270618.1:p.His941Arg, XP_005270619.1:p.His906Arg, XP_005270619.2:p.His906Arg
T > C
SNP
H978R
rs72547602
T > A
SNP
D974V
rs72549303 NC_000001.10:g.97915622delG, NC_000001.11:g.97450066delG, NG_008807.2:g.475994delC, NM_000110.3:c.1898delC, NP_000101.2:p.Pro633Glnfs, XM_005270561.1:c.1787delC, XM_005270562.1:c.1682delC, XM_005270562.3:c.1682delC, XM_005270563.1:c.1898delC, XM_006710397.2:c.1898delC, XP_005270618.1:p.Pro596Glnfs, XP_005270619.1:p.Pro561Glnfs, XP_005270619.2:p.Pro561Glnfs, XP_005270620.1:p.Pro633Glnfs, XP_006710460.1:p.Pro633Glnfs
G > -
G > G
indel
P633Q
rs72549304 NC_000001.10:g.98015165G>A, NC_000001.11:g.97549609G>A, NG_008807.2:g.376451C>T, NM_000110.3:c.1475C>T, NP_000101.2:p.Ser492Leu, XM_005270561.1:c.1364C>T, XM_005270562.1:c.1475C>T, XM_005270562.3:c.1475C>T, XM_005270563.1:c.1475C>T, XM_005270564.1:c.1475C>T, XM_006710397.2:c.1475C>T, XP_005270618.1:p.Ser455Leu, XP_005270619.1:p.Ser492Leu, XP_005270619.2:p.Ser492Leu, XP_005270620.1:p.Ser492Leu, XP_005270621.1:p.Ser492Leu, XP_006710460.1:p.Ser492Leu
G > A
SNP
S492L
rs72549305
T > C
SNP
I370V
rs72549306 NC_000001.10:g.98058899C>A, NC_000001.11:g.97593343C>A, NG_008807.2:g.332717G>T, NM_000110.3:c.1003G>T, NP_000101.2:p.Val335Leu, XM_005270561.1:c.892G>T, XM_005270562.1:c.1003G>T, XM_005270562.3:c.1003G>T, XM_005270563.1:c.1003G>T, XM_005270564.1:c.1003G>T, XM_006710397.2:c.1003G>T, XP_005270618.1:p.Val298Leu, XP_005270619.1:p.Val335Leu, XP_005270619.2:p.Val335Leu, XP_005270620.1:p.Val335Leu, XP_005270621.1:p.Val335Leu, XP_006710460.1:p.Val335Leu
C > A
SNP
V335L
rs72549307 NC_000001.10:g.98164955T>C, NC_000001.11:g.97699399T>C, NG_008807.2:g.226661A>G, NM_000110.3:c.632A>G, NP_000101.2:p.Tyr211Cys, XM_005270561.1:c.521A>G, XM_005270562.1:c.632A>G, XM_005270562.3:c.632A>G, XM_005270563.1:c.632A>G, XM_005270564.1:c.632A>G, XM_006710397.2:c.632A>G, XP_005270618.1:p.Tyr174Cys, XP_005270619.1:p.Tyr211Cys, XP_005270619.2:p.Tyr211Cys, XP_005270620.1:p.Tyr211Cys, XP_005270621.1:p.Tyr211Cys, XP_006710460.1:p.Tyr211Cys
T > C
SNP
Y211C
rs72549308 NC_000001.10:g.98164986T>G, NC_000001.11:g.97699430T>G, NG_008807.2:g.226630A>C, NM_000110.3:c.601A>C, NP_000101.2:p.Ser201Arg, XM_005270561.1:c.490A>C, XM_005270562.1:c.601A>C, XM_005270562.3:c.601A>C, XM_005270563.1:c.601A>C, XM_005270564.1:c.601A>C, XM_006710397.2:c.601A>C, XP_005270618.1:p.Ser164Arg, XP_005270619.1:p.Ser201Arg, XP_005270619.2:p.Ser201Arg, XP_005270620.1:p.Ser201Arg, XP_005270621.1:p.Ser201Arg, XP_006710460.1:p.Ser201Arg
T > G
SNP
S201R
rs72549309 NC_000001.10:g.98205971_98205974delATGA, NC_000001.11:g.97740415_97740418delATGA, NG_008807.2:g.185642_185645delTCAT, NM_000110.3:c.295_298delTCAT, NM_001160301.1:c.295_298delTCAT, NP_000101.2:p.Phe100Serfs, NP_001153773.1:p.Phe100Serfs, XM_005270561.1:c.184_187delTCAT, XM_005270562.1:c.295_298delTCAT, XM_005270562.3:c.295_298delTCAT, XM_005270563.1:c.295_298delTCAT, XM_005270564.1:c.295_298delTCAT, XM_006710397.2:c.295_298delTCAT, XP_005270618.1:p.Phe63Serfs, XP_005270619.1:p.Phe100Serfs, XP_005270619.2:p.Phe100Serfs, XP_005270620.1:p.Phe100Serfs, XP_005270621.1:p.Phe100Serfs, XP_006710460.1:p.Phe100Serfs
ATGA > -
indel
F100S
rs72549310
G > A
SNP
R21*
rs72728438 NC_000001.10:g.97847874T>C, NC_000001.11:g.97382318T>C, NG_008807.2:g.543742A>G, NM_000110.3:c.1974+75A>G, XM_005270561.1:c.1863+75A>G, XM_005270562.1:c.1758+75A>G, XM_005270562.3:c.1758+75A>G, XM_005270563.1:c.1974+75A>G, XM_006710397.2:c.1974+75A>G, XR_947619.1:n.1347-1316T>C, XR_947620.1:n.1125-1316T>C, XR_947621.1:n.1347-1316T>C, rs199469549, rs74105154
T > C
SNP
rs72975710
G > A
G > C
SNP
A450V
rs7325568 NC_000013.10:g.40818284C>T, NC_000013.11:g.40244147C>T
C > T
SNP
rs75017182 NC_000001.10:g.98045449G>C, NC_000001.11:g.97579893G>C, NG_008807.2:g.346167C>G, NM_000110.3:c.1129-5923C>G, XM_005270561.1:c.1018-5923C>G, XM_005270562.1:c.1129-5923C>G, XM_005270562.3:c.1129-5923C>G, XM_005270563.1:c.1129-5923C>G, XM_005270564.1:c.1129-5923C>G, XM_006710397.2:c.1129-5923C>G
G > C
SNP
rs7608731 NC_000002.11:g.31249974T>C, NC_000002.12:g.31027108T>C, NM_001253826.1:c.315-60806A>G, NM_001253827.1:c.70-34101A>G, NM_024572.3:c.130-34101A>G, NR_045602.1:n.903-34101A>G, XM_005264559.1:c.25-34101A>G, XM_011533104.1:c.448-34101A>G, XM_011533105.1:c.70-34101A>G, XM_011533106.1:c.43-34101A>G, rs56452495, rs57143999
T > C
SNP
rs7664413 NC_000004.11:g.177608707C>T, NC_000004.12:g.176687553C>T, NG_034216.1:g.110193G>A, NM_005429.4:c.812-33G>A, XR_939498.1:n.260+7803C>T, XR_939499.1:n.209+17844C>T, rs58304891
C > T
SNP
rs7667298 NC_000004.11:g.55991731T>C, NC_000004.12:g.55125564T>C, NG_012004.1:g.5032A>G, NM_002253.2:c.-271A>G, rs386485376, rs60563091
T > C
SNP
rs7699188 NC_000004.11:g.89096061G>A, NC_000004.12:g.88174909G>A, NG_032067.2:g.61414C>T, NM_001257386.1:c.-19-34895C>T, XM_005263355.1:c.-19-34895C>T, XM_005263355.2:c.-19-34895C>T, XM_011532420.1:c.-19-34895C>T, rs57955088
G > A
G > C
SNP
rs770063251 NC_000008.10:g.105436493C>T, NC_000008.11:g.104424265C>T, NG_008840.1:g.47785G>A, NM_001385.2:c.1217G>A, NP_001376.1:p.Trp406Ter, XM_005250818.1:c.1217G>A, XM_005250818.2:c.1217G>A, XM_005250819.1:c.1217G>A, XM_006716518.2:c.1058G>A, XM_011516903.1:c.1217G>A, XM_011516904.1:c.1217G>A, XP_005250875.1:p.Trp406Ter, XP_005250876.1:p.Trp406Ter, XP_006716581.1:p.Trp353Ter, XP_011515205.1:p.Trp406Ter, XP_011515206.1:p.Trp406Ter
C > T
SNP
W406*
rs780093 NC_000002.11:g.27742603T>C, NC_000002.12:g.27519736T>C, NG_028024.1:g.27898T>C, NM_001486.3:c.1572+799T>C, XM_005264256.1:c.1566+799T>C, XM_005264257.1:c.1503+799T>C, XM_005264258.1:c.1002+799T>C, XM_011532761.1:c.1419+799T>C, XM_011532762.1:c.1002+799T>C, rs386613274, rs61268282, rs8179238
T > C
SNP
rs780094 NC_000002.11:g.27741237T>C, NC_000002.12:g.27518370T>C, NG_028024.1:g.26532T>C, NM_001486.3:c.1423-418T>C, XM_005264256.1:c.1417-418T>C, XM_005264257.1:c.1354-418T>C, XM_005264258.1:c.853-418T>C, XM_011532761.1:c.1270-418T>C, XM_011532762.1:c.853-418T>C, rs17705107, rs386613275, rs59441336
T > C
SNP
rs78060119 NC_000001.10:g.98039499C>A, NC_000001.11:g.97573943C>A, NG_008807.2:g.352117G>T, NM_000110.3:c.1156G>T, NP_000101.2:p.Glu386Ter, XM_005270561.1:c.1045G>T, XM_005270562.1:c.1156G>T, XM_005270562.3:c.1156G>T, XM_005270563.1:c.1156G>T, XM_005270564.1:c.1156G>T, XM_006710397.2:c.1156G>T, XP_005270618.1:p.Glu349Ter, XP_005270619.1:p.Glu386Ter, XP_005270619.2:p.Glu386Ter, XP_005270620.1:p.Glu386Ter, XP_005270621.1:p.Glu386Ter, XP_006710460.1:p.Glu386Ter, rs386508634
C > A
SNP
E386*
rs7952081 NC_000011.10:g.67557462G>A, NC_000011.9:g.67324933G>A, rs56809733
G > A
SNP
rs7993418 NC_000013.10:g.28883061G>A, NC_000013.11:g.28308924G>A, NG_012003.1:g.191205C>T, NM_002019.4:c.3639C>T, NP_002010.2:p.Tyr1213=, rs117224149, rs57281829
G > A
SNP
Y1213Y
rs80081766 NC_000001.10:g.98348908C>T, NC_000001.11:g.97883352C>T, NG_008807.2:g.42708G>A, NM_000110.3:c.62G>A, NM_001160301.1:c.62G>A, NP_000101.2:p.Arg21Gln, NP_001153773.1:p.Arg21Gln, XM_005270561.1:c.39+37532G>A, XM_005270562.1:c.62G>A, XM_005270562.3:c.62G>A, XM_005270563.1:c.62G>A, XM_005270564.1:c.62G>A, XM_006710397.2:c.62G>A, XP_005270619.1:p.Arg21Gln, XP_005270619.2:p.Arg21Gln, XP_005270620.1:p.Arg21Gln, XP_005270621.1:p.Arg21Gln, XP_006710460.1:p.Arg21Gln, rs386508633
C > T
SNP
R21Q
rs8056100 NC_000016.10:g.48226719G>A, NC_000016.9:g.48260630G>A, NG_011522.1:g.13459C>T, NM_032583.3:c.395+1087C>T, NM_033151.3:c.395+1087C>T, NM_145186.2:c.395+1087C>T, XM_005256208.1:c.395+1087C>T, XM_005256209.1:c.395+1087C>T, XM_005256210.1:c.395+1087C>T, XM_011523396.1:c.197+1087C>T, XR_243432.1:n.500+1087C>T, rs58118497
G > A
SNP
rs8071253 NC_000017.10:g.76184467G>A, NC_000017.11:g.78188386G>A, NM_001010982.4:c.63+953G>A, NM_001145526.2:c.63+953G>A, NM_003258.4:c.-1392C>T, NR_027083.1:n.117+953G>A, XM_011524326.1:c.63+953G>A, XM_011524327.1:c.-292+953G>A, XM_011524328.1:c.-303+953G>A, XM_011524329.1:c.-291-2584G>A, XM_011524330.1:c.-292+1556G>A, XM_011524331.1:c.-206+953G>A, XM_011524332.1:c.-217+953G>A, XM_011524333.1:c.63+953G>A, XM_011524334.1:c.-206+953G>A, XM_011524335.1:c.-206+953G>A, XM_011524336.1:c.63+953G>A, XM_011524337.1:c.63+953G>A, XR_934369.1:n.76+953G>A
G > A
SNP
rs8175347
(TA)6 > (TA)5
(TA)6 > (TA)7
(TA)6 > (TA)8
microsatellite
rs833061 NC_000006.11:g.43737486C>T, NC_000006.12:g.43769749C>T, NG_008732.1:g.4534C>T, NM_001025366.2:c.-958C>T, NM_001025367.2:c.-958C>T, NM_001025368.2:c.-958C>T, NM_001025369.2:c.-958C>T, NM_001025370.2:c.-958C>T, NM_001033756.2:c.-958C>T, NM_001171622.1:c.-958C>T, NM_001171623.1:c.-1498C>T, NM_001171624.1:c.-1498C>T, NM_001171625.1:c.-1498C>T, NM_001171626.1:c.-1498C>T, NM_001171627.1:c.-1498C>T, NM_001171628.1:c.-1498C>T, NM_001171629.1:c.-1498C>T, NM_001171630.1:c.-1498C>T, NM_001204384.1:c.-1498C>T, NM_001204385.1:c.-958C>T, NM_001317010.1:c.-1498C>T, NM_003376.5:c.-958C>T, rs36208046, rs60746584
C > T
SNP
rs854560 NC_000007.13:g.94946084A>T, NC_000007.14:g.95316772A>T, NG_008779.1:g.12801T>A, NM_000446.5:c.163T>A, NP_000437.3:p.Leu55Met, rs1138340, rs11567862, rs117860432, rs17434839, rs1801051, rs2228157, rs3179555, rs3202100, rs57937067
A > T
SNP
L55M
rs861539 NC_000014.8:g.104165753G>A, NC_000014.9:g.103699416G>A, NG_011516.1:g.21071C>T, NG_012307.1:g.75229G>A, NM_001100118.1:c.722C>T, NM_001100119.1:c.722C>T, NM_001130107.1:c.1782-1239G>A, NM_005432.3:c.722C>T, NM_182923.3:c.1651-1239G>A, NP_001093588.1:p.Thr241Met, NP_001093589.1:p.Thr241Met, NP_005423.1:p.Thr241Met, XM_005267599.1:c.1924-1239G>A, XM_005267600.1:c.*17-1239G>A, XM_005267602.1:c.1897-1239G>A, XM_005267603.1:c.*17-1239G>A, XM_005267604.1:c.1857-1239G>A, XM_005267605.1:c.1849-1239G>A, XM_005267606.1:c.*17-1239G>A, XM_005267607.1:c.1830-1239G>A, XM_005267608.1:c.1825-1239G>A, XM_005267609.1:c.1822-1239G>A, XM_005267610.1:c.*46-1239G>A, XM_005267612.1:c.*17-1239G>A, XM_005267613.1:c.1758-1239G>A, XM_005267614.1:c.1755-1239G>A, XM_005267615.1:c.1726-1239G>A, XM_005267616.1:c.*17-1239G>A, XM_005267617.1:c.1699-1239G>A, XM_005267618.1:c.*17-1239G>A, XM_005267624.1:c.1624-1239G>A, XM_005268045.1:c.722C>T, XM_005268046.1:c.722C>T, XM_005268047.1:c.722C>T, XM_011537138.1:c.722C>T, XP_005268102.1:p.Thr241Met, XP_005268103.1:p.Thr241Met, XP_005268104.1:p.Thr241Met, XP_011535440.1:p.Thr241Met, rs1734804, rs17435402, rs17850783, rs3212111, rs56934996
G > A
SNP
T241M
rs895819 NC_000019.10:g.13836478T>C, NC_000019.9:g.13947292T>C, NR_029495.1:n.182A>G, NR_029497.1:n.-119A>G, NR_029501.1:n.40A>G, NR_036515.1:n.-189A>G, rs117072305, rs61371382
T > C
SNP
rs9344 NC_000011.10:g.69648142G>A, NC_000011.9:g.69462910G>A, NG_007375.1:g.12038G>A, NM_053056.2:c.723G>A, NP_444284.1:p.Pro241=, XM_006718653.2:c.747G>A, XP_006718716.1:p.Pro249=, rs1131451, rs11557586, rs17295377, rs17349816, rs17359282, rs17852153, rs2227951, rs3191361, rs59807553, rs603965
G > A
SNP
P241P
rs9380142 NC_000006.11:g.29798794A=, NC_000006.11:g.29798794A>G, NC_000006.12:g.29831017A=, NC_000006.12:g.29831017A>G, NG_029039.1:g.9039A=, NG_029039.1:g.9039A>G, NM_002127.5:c.*278A=, NM_002127.5:c.*278A>G, NT_113891.3:g.1314593A=, NT_113891.3:g.1314593A>G, NT_167244.2:g.1096643A=, NT_167244.2:g.1096643A>G, NT_167245.1:g.1099415G=, NT_167245.1:g.1099415G>A, NT_167245.2:g.1093830G=, NT_167245.2:g.1093830G>A, NT_167246.1:g.1099123A=, NT_167246.1:g.1099123A>G, NT_167246.2:g.1093503A=, NT_167246.2:g.1093503A>G, NT_167247.1:g.1099073G=, NT_167247.1:g.1099073G>A, NT_167247.2:g.1093488G=, NT_167247.2:g.1093488G>A, NT_167248.2:g.1093797A=, NT_167248.2:g.1093797A>G, NT_167249.2:g.1137062A=, NT_167249.2:g.1137062A>G, XM_005249055.1:c.*278A=, XM_005249055.1:c.*278A>G, XM_005249056.1:c.*278A>G, XM_005249056.1:c.*278G>A, XM_005249057.1:c.*493A>G, XM_005249057.1:c.*493G>A, XM_005249058.1:c.*278A=, XM_005249058.1:c.*278A>G, XM_005272810.1:c.*292A=, XM_005272810.1:c.*292A>G, XM_005274964.1:c.*278G=, XM_005274964.1:c.*278G>A, XM_005274965.1:c.*278G=, XM_005274965.1:c.*278G>A, XM_005274966.1:c.*493A>G, XM_005274966.1:c.*493G>A, XM_005274967.1:c.*278G=, XM_005274967.1:c.*278G>A, XM_005275119.1:c.*278A=, XM_005275119.1:c.*278A>G, XM_005275120.1:c.*278A>G, XM_005275120.1:c.*278G>A, XM_005275121.1:c.*493A>G, XM_005275121.1:c.*493G>A, XM_005275122.1:c.*278A>G, XM_005275122.1:c.*278G>A, XM_005275246.1:c.*278G=, XM_005275246.1:c.*278G>A, XM_005275247.1:c.*278G=, XM_005275247.1:c.*278G>A, XM_005275248.1:c.*493A>G, XM_005275248.1:c.*493G>A, XM_005275249.1:c.*278G=, XM_005275249.1:c.*278G>A, XM_005275394.1:c.*292A=, XM_005275394.1:c.*292A>G, XM_005275549.1:c.*292A=, XM_005275549.1:c.*292A>G, XM_005275550.1:c.*292A>G, XM_005275550.1:c.*292G>A, XM_005275551.1:c.*507A>G, XM_005275551.1:c.*507G>A, XM_005275552.1:c.*292A=, XM_005275552.1:c.*292A>G, XM_011547651.1:c.*278G=, XM_011547651.1:c.*278G>A, XM_011547882.1:c.*278A=, XM_011547882.1:c.*278A>G, XM_011548048.1:c.*278G=, XM_011548048.1:c.*278G>A, XM_011548236.1:c.*292A=, XM_011548236.1:c.*292A>G, XM_011548237.1:c.*292A=, XM_011548237.1:c.*292A>G, XM_011548430.1:c.*292A=, XM_011548430.1:c.*292A>G, XM_011548431.1:c.*292A=, XM_011548431.1:c.*292A>G, XR_241896.1:n.1904A>G, XR_241896.1:n.1904G>A, XR_246963.1:n.1838A>G, XR_246963.1:n.1838G>A, XR_247353.1:n.1904A>G, XR_247353.1:n.1904G>A, XR_247370.1:n.1904A=, XR_247370.1:n.1904A>G, XR_247389.1:n.1904A>G, XR_247389.1:n.1904G>A, XR_247402.1:n.1838A>G, XR_247402.1:n.1838G>A, XR_247423.1:n.1896A>G, XR_247423.1:n.1896G>A, rs114317070, rs117803891, rs17185503, rs60341608
A > G
SNP
rs9561778 NC_000013.10:g.95713715G>T, NC_000013.11:g.95061461G>T, NM_001301829.1:c.3225+1243C>A, NM_005845.4:c.3366+1243C>A, XM_005254025.1:c.3237+1243C>A, XM_005254025.2:c.3237+1243C>A, XM_005254026.1:c.3225+1243C>A, XM_005254027.1:c.3141+1243C>A, XM_006719914.1:c.3276+1243C>A, XM_011521047.1:c.2817+1243C>A, rs17234943
G > A
G > T
SNP
rs9679162 NC_000002.11:g.31247514G>T, NC_000002.12:g.31024648G>T, NM_001253826.1:c.315-58346C>A, NM_001253827.1:c.70-31641C>A, NM_024572.3:c.130-31641C>A, NR_045602.1:n.903-31641C>A, XM_005264559.1:c.25-31641C>A, XM_011533104.1:c.448-31641C>A, XM_011533105.1:c.70-31641C>A, XM_011533106.1:c.43-31641C>A, rs56573917, rs57478659, rs60984987
G > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
Trade Names
  • 5 Fluorouracil
  • Adrucil
  • Arumel
  • Carac
  • Carzonal
  • Effluderm
  • Efudex
  • Efudix
  • Efurix
  • FU
  • Fluoroblastin
  • Fluoroplex
  • Fluracil
  • Fluracilum
  • Fluri
  • Fluril
  • Fluro Uracil
  • Flurouracil
  • Ftoruracil
  • Kecimeton
  • Phthoruracil
  • Phtoruracil
  • Queroplex
  • Timazin
  • URF
  • Ulup
Brand Mixture Names

PharmGKB Accession Id

PA128406956

Type(s):

Drug

Description

A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the thymidylate synthetase conversion of deoxyuridylic acid to thymidylic acid.

Source: Drug Bank

Pharmacogenetics

Pharmacokinetics

There are several routes of fluorouracil metabolism (see Fluoropyrimidine Pathway, Pharmacokinetics for details). The primary route of detoxification is via DPYD, DPYS and UPB1 [Articles:14555507, 18075467]. Activation to FdUMP occurs via TYMP [Articles:10741735, 12724731] and TK1 [Article:12724731]. Additional routes of metabolism include via UMPS [Article:12724731], PPAT [Article:12724731], UPP1 [Article:11956089], UPP2 [Article:11956089], UCK1 [Article:12724731], UCK2 [Article:12724731], RRM1 [Article:12724731], and RRM2 [Article:12724731].

Variants in DPYD [Articles:10071185, 18299612, 17165084, 15858133, 17848752, 19104657], DPYS [Article:14555507], GSTP1 ([Article:18540691] in a study of radiochemotherapy) and UMPS [Article:16818689] are associated with fluorouracil toxicity.

Transport

Import of fluorouracil occurs via SLC22A7 [Article:15901346] and possibly SLC29A1 ([Article:17695509], but in [Article:18992248], no association with fluorouracil was found).

Fluorouracil resistance is associated with efflux transporters ABCG2 [Articles:18820913, 18837291], ABCC3, ABCC4 and ABCC5 [Article:19077464].

Pharmacodynamics

The target of fluorouracil is TYMS [Article:15638735]. Incorporation of metabolites of fluorouracil into DNA and RNA also causes cell death [Articles:19383847, 8996164] (see Fluoropyrimidine Pathway, Pharmacodynamics for details).

Fluorouracil suppresses expression of ATP7B and SLC22A2 transporters and increases expression of ABCC2 [Article:19622348], which may aid response to [Chemical:oxaliplatin].

Variants in TYMS [Articles:16818689, 11913730, 11556832, 14522928, 16575011, 16141798, 15386371, 19082493], ERCC2 [Article:18267032], MTHFR [Articles:19465420, 12738713, 15608557, 17704422] and TP53 [Article:18357466] are associated with fluorouracil response.

Source: PharmGKB

Indication

For the topical treatment of multiple actinic or solar keratoses. In the 5% strength it is also useful in the treatment of superficial basal cell carcinomas when conventional methods are impractical, such as with multiple lesions or difficult treatment sites. Fluorouracil injection is indicated in the palliative management of some types of cancer, including colon, esophageal, gastric, rectum, breast, biliary tract, stomach, head and neck, cervical, pancreas, renal cell, and carcinoid.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

The precise mechanism of action has not been fully determined, but the main mechanism of fluorouracil is thought to be the binding of the deoxyribonucleotide of the drug (FdUMP) and the folate cofactor, N5-10-methylenetetrahydrofolate, to thymidylate synthase (TS) to form a covalently bound ternary complex. This results in the inhibition of the formation of thymidylate from uracil, which leads to the inhibition of DNA and RNA synthesis and cell death. Fluorouracil can also be incorporated into RNA in place of uridine triphosphate (UTP), producing a fraudulent RNA and interfering with RNA processing and protein synthesis.

Source: Drug Bank

Pharmacology

Fluorouracil is an antineoplastic anti-metabolite. Anti-metabolites masquerade as purine or pyrimidine - which become the building blocks of DNA. They prevent these substances from becoming incorporated into DNA during the "S" phase (of the cell cycle), stopping normal development and division. Fluorouracil blocks an enzyme which converts the cytosine nucleotide into the deoxy derivative. In addition, DNA synthesis is further inhibited because Fluorouracil blocks the incorporation of the thymidine nucleotide into the DNA strand.

Source: Drug Bank

Food Interaction

Vitamin B1 needs increased with long term use.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Hepatic

Source: Drug Bank

Protein Binding

8-12%

Source: Drug Bank

Absorption

28-100%

Source: Drug Bank

Half-Life

10-20 minutes

Source: Drug Bank

Toxicity

LD ~50~=230mg/kg (orally in mice)

Source: Drug Bank

Route of Elimination

Seven percent to 20% of the parent drug is excreted unchanged in the urine in 6 hours; of this over 90% is excreted in the first hour. The remaining percentage of the administered dose is metabolized, primarily in the liver.

Source: Drug Bank

Chemical Properties

Chemical Formula

C4H3FN2O2

Source: Drug Bank

Isomeric SMILES

c1c(c(=O)[nH]c(=O)[nH]1)F

Source: OpenEye

Canonical SMILES

FC1=CNC(=O)NC1=O

Source: Drug Bank

Average Molecular Weight

130.0772

Source: Drug Bank

Monoisotopic Molecular Weight

130.017855555

Source: Drug Bank

SMILES

FC1=CNC(=O)NC1=O

Source: Drug Bank

InChI String

InChI=1S/C4H3FN2O2/c5-2-1-6-4(9)7-3(2)8/h1H,(H2,6,7,8,9)

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Fluoropyrimidine Pathway, Pharmacodynamics
    Model non-tissue-specific cancer cell displaying genes which may be involved in the pharmacodynamics of the fluoropyrimidines, 5-fluorouracil (5-FU), capecitabine and tegafur.
  1. Fluoropyrimidine Pathway, Pharmacokinetics
    Representation of the metabolic pathways for fluoropyrimidines.

Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.

Curated Information ?

EvidenceGene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA12
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA13
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA9
ABCB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB9
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ABCC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC10
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCC11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC12
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC13
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
ABCC3
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC4
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCE1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCF2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCF3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCG1
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCG2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCG4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCG5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCG8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACE
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
AGXT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AKT2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AP3M2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APOE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APPBP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BAX
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BCL2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BCR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BPTF
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRAF
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
C10orf11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CBR1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CBR3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CCND1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CCNO
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD33
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD52
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CDA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDKN1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDKN2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CEP290
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CES1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CES2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CFTR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CHN2
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
CLCN6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CMPK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
COLEC10
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CSPG4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CSPP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CTDSPL
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CXCL8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR4
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CYP19A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP1A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP1A2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CYP1B1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2A6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2B6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C19
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2D6
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP3A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP3A5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DAPK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DCTD
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DHFR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
DLG5
DPYD
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
DPYS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DTYMK
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DUT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
E2F1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EGF
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
EGFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EIF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EPHA5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERBB2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ERCC1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ERCC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERCC4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ESR1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ESR2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
EXO1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
F5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FAM73A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FASLG
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FDXR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGFR2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
FGFR4
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
FLT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
FLT4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FPGS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FXYD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FZD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
G6PD
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GALNT14
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GCKR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GGH
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GNAS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GSTM1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GSTP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GSTT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HIF1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-B
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
HLA-G
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IGF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IGF2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IGF2BP2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
IGFBP3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL13
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL17F
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL6
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IMPDH2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IQGAP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KCNQ1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KDR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DL5A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DS5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR3DS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIT
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
KLC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KLC3
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KRAS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LDHA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LDLR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
LGR5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LILRA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
LYRM5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MAP2K4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MBD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MBTD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MCPH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MECP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MEGF11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MET
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MIR27A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MIR494
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MLH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MMP9
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MSH6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MSLN
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MTHFD1
MTHFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTOR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MUC4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MYB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MYC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAA15
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAT2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NFKB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NLGN1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NME1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NME2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NMT1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NOS3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NPEPPS
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NQO1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NQO2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NT5C
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NT5C1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
OGG1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
OR10AE3P
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
OTC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PALB2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PARD3B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDE4B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDGFA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDGFRA
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PDGFRB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PIK3CA
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PON1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
PPAT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRAM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PROC
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PROM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRSS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PSCA
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PSMB3P
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PTEN
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
RALBP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RB1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
REV3L
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
RGS5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RNF141
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RRM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RRM2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RUNX3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
S100A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SART1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
SCN1A
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SELE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SERPINA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SETD4
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SHMT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC15A1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SLC19A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A16
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
SLC22A7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC28A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC28A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC28A3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
SLC29A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC29A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC29A3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC29A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available