Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39665961T>ACA399305302TCAPc.356T>A (p.Leu119Gln)
c.284T>A (p.Leu95Gln)
17g.39665961T>CCA399305304TCAPc.356T>C (p.Leu119Pro)
c.284T>C (p.Leu95Pro)
17g.39665961T>GCA399305306TCAPc.356T>G (p.Leu119Arg)
c.284T>G (p.Leu95Arg)
dbSNP
17g.39665962G>ACA499889233TCAPc.357G>A (p.Leu119=)
c.285G>A (p.Leu95=)
dbSNP gnomAD v2 gnomAD v4
17g.39665962G>CCA499889235TCAPc.357G>C (p.Leu119=)
c.285G>C (p.Leu95=)
17g.39665962G=CA2259200840TCAPc.357G= (p.Leu119=)
c.285G= (p.Leu95=)
17g.39665962G>TCA499889234TCAPc.357G>T (p.Leu119=)
c.285G>T (p.Leu95=)
17g.39665963G>ACA399305308TCAPc.358G>A (p.Glu120Lys)
c.286G>A (p.Glu96Lys)
17g.39665963G>CCA399305311TCAPc.358G>C (p.Glu120Gln)
c.286G>C (p.Glu96Gln)
dbSNP
17g.39665963G>TCA399305313TCAPc.358G>T (p.Glu120Ter)
c.286G>T (p.Glu96Ter)
dbSNP
17g.39665965_39665966delCA2580613273TCAPc.360_361del (p.Glu120AspfsTer15)
c.288_289del (p.Glu96AspfsTer15)
ClinVar
17g.39665964A>CCA399305315TCAPc.359A>C (p.Glu120Ala)
c.287A>C (p.Glu96Ala)
17g.39665964A>GCA399305317TCAPc.359A>G (p.Glu120Gly)
c.287A>G (p.Glu96Gly)
dbSNP
17g.39665964A>TCA399305319TCAPc.359A>T (p.Glu120Val)
c.287A>T (p.Glu96Val)
dbSNP
17g.39665965G>ACA499889239TCAPc.360G>A (p.Glu120=)
c.288G>A (p.Glu96=)
dbSNP gnomAD v4
17g.39665965G>CCA399305322TCAPc.360G>C (p.Glu120Asp)
c.288G>C (p.Glu96Asp)
17g.39665965G>TCA399305324TCAPc.360G>T (p.Glu120Asp)
c.288G>T (p.Glu96Asp)
17g.39665965_39665966delinsGACA2259200841TCAPc.360_361delinsGA (p.Glu120=)
c.288_289delinsGA (p.Glu96=)
17g.39665966delCA771858472TCAPc.361del (p.Thr121GlnfsTer?)
c.289del (p.Thr97GlnfsTer?)
dbSNP
17g.39665966A>CCA399305332TCAPc.361A>C (p.Thr121Pro)
c.289A>C (p.Thr97Pro)
17g.39665966A>GCA399305328TCAPc.361A>G (p.Thr121Ala)
c.289A>G (p.Thr97Ala)
dbSNP
17g.39665966A>TCA399305326TCAPc.361A>T (p.Thr121Ser)
c.289A>T (p.Thr97Ser)
dbSNP
17g.39665966_39665967delinsACCA2259200842TCAPc.361_362delinsAC (p.Thr121=)
c.289_290delinsAC (p.Thr97=)
17g.39665967delCA919838668TCAPc.362del (p.Thr121LysfsTer?)
c.290del (p.Thr97LysfsTer?)
dbSNP gnomAD v4
17g.39665967C>ACA399305334TCAPc.362C>A (p.Thr121Lys)
c.290C>A (p.Thr97Lys)
dbSNP
17g.39665967C>GCA399305335TCAPc.362C>G (p.Thr121Arg)
c.290C>G (p.Thr97Arg)
dbSNP
17g.39665967C>TCA399305336TCAPc.362C>T (p.Thr121Ile)
c.290C>T (p.Thr97Ile)
dbSNP
17g.39665968A>CCA499889243TCAPc.363A>C (p.Thr121=)
c.291A>C (p.Thr97=)
17g.39665968A>GCA499889244TCAPc.363A>G (p.Thr121=)
c.291A>G (p.Thr97=)
dbSNP
17g.39665968A>TCA499889245TCAPc.363A>T (p.Thr121=)
c.291A>T (p.Thr97=)
dbSNP
17g.39665969G>ACA399305338TCAPc.364G>A (p.Ala122Thr)
c.292G>A (p.Ala98Thr)
dbSNP
17g.39665969G>CCA399305339TCAPc.364G>C (p.Ala122Pro)
c.292G>C (p.Ala98Pro)
17g.39665969G>TCA399305341TCAPc.364G>T (p.Ala122Ser)
c.292G>T (p.Ala98Ser)
dbSNP
17g.39665970C>ACA399305343TCAPc.365C>A (p.Ala122Asp)
c.293C>A (p.Ala98Asp)
dbSNP
17g.39665970C>GCA399305345TCAPc.365C>G (p.Ala122Gly)
c.293C>G (p.Ala98Gly)
dbSNP
17g.39665970C>TCA399305347TCAPc.365C>T (p.Ala122Val)
c.293C>T (p.Ala98Val)
dbSNP gnomAD v4
17g.39665971C>ACA499889248TCAPc.366C>A (p.Ala122=)
c.294C>A (p.Ala98=)
dbSNP gnomAD v4
17g.39665971C>GCA499889249TCAPc.366C>G (p.Ala122=)
c.294C>G (p.Ala98=)
17g.39665971C>TCA499889250TCAPc.366C>T (p.Ala122=)
c.294C>T (p.Ala98=)
gnomAD v4
17g.39665972C>ACA399305349TCAPc.367C>A (p.Leu123Met)
c.295C>A (p.Leu99Met)
dbSNP
17g.39665972C>GCA399305351TCAPc.367C>G (p.Leu123Val)
c.295C>G (p.Leu99Val)
gnomAD v4
17g.39665972C>TCA499889251TCAPc.367C>T (p.Leu123=)
c.295C>T (p.Leu99=)
dbSNP
17g.39665972_39665982delCA2637632987TCAPc.367_377del (p.Leu123ValfsTer9)
c.295_305del (p.Leu99ValfsTer9)
gnomAD v4
17g.39665973T>ACA399305354TCAPc.368T>A (p.Leu123Gln)
c.296T>A (p.Leu99Gln)
17g.39665973T>CCA399305357TCAPc.368T>C (p.Leu123Pro)
c.296T>C (p.Leu99Pro)
17g.39665973T>GCA399305360TCAPc.368T>G (p.Leu123Arg)
c.296T>G (p.Leu99Arg)
ClinVar
17g.39665974G>ACA499889255TCAPc.369G>A (p.Leu123=)
c.297G>A (p.Leu99=)
dbSNP
17g.39665974G>CCA499889257TCAPc.369G>C (p.Leu123=)
c.297G>C (p.Leu99=)
17g.39665974G=CA2259200843TCAPc.369G= (p.Leu123=)
c.297G= (p.Leu99=)
17g.39665974G>TCA499889256TCAPc.369G>T (p.Leu123=)
c.297G>T (p.Leu99=)
dbSNP
17g.39665976dupCA2593710010TCAPc.371dup (p.Gly125TrpfsTer11)
c.299dup (p.Gly101TrpfsTer11)
gnomAD v3 gnomAD v4
17g.39665975G>ACA399305365TCAPc.370G>A (p.Gly124Ser)
c.298G>A (p.Gly100Ser)
dbSNP
17g.39665975G>CCA399305368TCAPc.370G>C (p.Gly124Arg)
c.298G>C (p.Gly100Arg)
dbSNP
17g.39665975G>TCA399305363TCAPc.370G>T (p.Gly124Cys)
c.298G>T (p.Gly100Cys)
dbSNP
17g.39665976G>ACA399305372TCAPc.371G>A (p.Gly124Asp)
c.299G>A (p.Gly100Asp)
dbSNP gnomAD v2
17g.39665976G>CCA399305377TCAPc.371G>C (p.Gly124Ala)
c.299G>C (p.Gly100Ala)
17g.39665976G=CA2259200844TCAPc.371G= (p.Gly124=)
c.299G= (p.Gly100=)
17g.39665976G>TCA399305374TCAPc.371G>T (p.Gly124Val)
c.299G>T (p.Gly100Val)
17g.39665977T>ACA499889261TCAPc.372T>A (p.Gly124=)
c.300T>A (p.Gly100=)
dbSNP
17g.39665977T>CCA499889263TCAPc.372T>C (p.Gly124=)
c.300T>C (p.Gly100=)
dbSNP
17g.39665977T>GCA499889262TCAPc.372T>G (p.Gly124=)
c.300T>G (p.Gly100=)
17g.39665977T=CA2259200845TCAPc.372T= (p.Gly124=)
c.300T= (p.Gly100=)
17g.39665978G>ACA399305380TCAPc.373G>A (p.Gly125Ser)
c.301G>A (p.Gly101Ser)
dbSNP gnomAD v2 gnomAD v4
17g.39665978G>CCA399305385TCAPc.373G>C (p.Gly125Arg)
c.301G>C (p.Gly101Arg)
17g.39665978G=CA2259200847TCAPc.373G= (p.Gly125=)
c.301G= (p.Gly101=)
17g.39665978G>TCA399305383TCAPc.373G>T (p.Gly125Cys)
c.301G>T (p.Gly101Cys)
17g.39665978_39665993delinsGGCCAGTGTGTGGACCCA2259200846TCAPc.373_388delinsGGCCAGTGTGTGGACC (p.Gly125=)
c.301_316delinsGGCCAGTGTGTGGACC (p.Gly101=)
17g.39665979G>ACA399305389TCAPc.374G>A (p.Gly125Asp)
c.302G>A (p.Gly101Asp)
dbSNP gnomAD v4
17g.39665979G>CCA399305394TCAPc.374G>C (p.Gly125Ala)
c.302G>C (p.Gly101Ala)
17g.39665979G>TCA399305396TCAPc.374G>T (p.Gly125Val)
c.302G>T (p.Gly101Val)
17g.39665984_39665998delCA8532901TCAPc.379_393del (p.Cys127_Gln131del)
c.307_321del (p.Cys103_Gln107del)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665980C>ACA499889264TCAPc.375C>A (p.Gly125=)
c.303C>A (p.Gly101=)
dbSNP
17g.39665980C=CA2259200848TCAPc.375C= (p.Gly125=)
c.303C= (p.Gly101=)
17g.39665980C>GCA499889265TCAPc.375C>G (p.Gly125=)
c.303C>G (p.Gly101=)
dbSNP gnomAD v2 gnomAD v4
17g.39665980C>TCA499889266TCAPc.375C>T (p.Gly125=)
c.303C>T (p.Gly101=)
dbSNP
17g.39665981C>ACA399305405TCAPc.376C>A (p.Gln126Lys)
c.304C>A (p.Gln102Lys)
dbSNP
17g.39665981C>GCA399305400TCAPc.376C>G (p.Gln126Glu)
c.304C>G (p.Gln102Glu)
dbSNP
17g.39665981C>TCA399305403TCAPc.376C>T (p.Gln126Ter)
c.304C>T (p.Gln102Ter)
dbSNP COSMIC
17g.39665982A=CA2259200849TCAPc.377A= (p.Gln126=)
c.305A= (p.Gln102=)
17g.39665982A>CCA399305409TCAPc.377A>C (p.Gln126Pro)
c.305A>C (p.Gln102Pro)
17g.39665982A>GCA8532902TCAPc.377A>G (p.Gln126Arg)
c.305A>G (p.Gln102Arg)
dbSNP ExAC gnomAD v3 gnomAD v4
17g.39665982A>TCA399305414TCAPc.377A>T (p.Gln126Leu)
c.305A>T (p.Gln102Leu)
17g.39665983G>ACA499889269TCAPc.378G>A (p.Gln126=)
c.306G>A (p.Gln102=)
dbSNP
17g.39665983G>CCA8532903TCAPc.378G>C (p.Gln126His)
c.306G>C (p.Gln102His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665983G=CA2259200850TCAPc.378G= (p.Gln126=)
c.306G= (p.Gln102=)
17g.39665983G>TCA399305418TCAPc.378G>T (p.Gln126His)
c.306G>T (p.Gln102His)
17g.39665984T>ACA399305427TCAPc.379T>A (p.Cys127Ser)
c.307T>A (p.Cys103Ser)
17g.39665984T>CCA399305422TCAPc.379T>C (p.Cys127Arg)
c.307T>C (p.Cys103Arg)
17g.39665984T>GCA399305423TCAPc.379T>G (p.Cys127Gly)
c.307T>G (p.Cys103Gly)
dbSNP
17g.39665985G>ACA399305430TCAPc.380G>A (p.Cys127Tyr)
c.308G>A (p.Cys103Tyr)
ClinVar dbSNP
17g.39665985G>CCA399305434TCAPc.380G>C (p.Cys127Ser)
c.308G>C (p.Cys103Ser)
17g.39665985G=CA2259200851TCAPc.380G= (p.Cys127=)
c.308G= (p.Cys103=)
17g.39665985G>TCA399305437TCAPc.380G>T (p.Cys127Phe)
c.308G>T (p.Cys103Phe)
dbSNP
17g.39665986T>ACA399305439TCAPc.381T>A (p.Cys127Ter)
c.309T>A (p.Cys103Ter)
17g.39665986T>CCA499889273TCAPc.381T>C (p.Cys127=)
c.309T>C (p.Cys103=)
ClinVar dbSNP
17g.39665986T>GCA399305442TCAPc.381T>G (p.Cys127Trp)
c.309T>G (p.Cys103Trp)
17g.39665986T=CA2259200852TCAPc.381T= (p.Cys127=)
c.309T= (p.Cys103=)
17g.39665987G>ACA399305445TCAPc.382G>A (p.Val128Met)
c.310G>A (p.Val104Met)
gnomAD v4
17g.39665987G>CCA399305451TCAPc.382G>C (p.Val128Leu)
c.310G>C (p.Val104Leu)
ClinVar
17g.39665987G>TCA399305446TCAPc.382G>T (p.Val128Leu)
c.310G>T (p.Val104Leu)
17g.39665988T>ACA399305454TCAPc.383T>A (p.Val128Glu)
c.311T>A (p.Val104Glu)
17g.39665988T>CCA399305456TCAPc.383T>C (p.Val128Ala)
c.311T>C (p.Val104Ala)
17g.39665988T>GCA399305460TCAPc.383T>G (p.Val128Gly)
c.311T>G (p.Val104Gly)
17g.39665989G>ACA499889277TCAPc.384G>A (p.Val128=)
c.312G>A (p.Val104=)
dbSNP
17g.39665989G>CCA499889278TCAPc.384G>C (p.Val128=)
c.312G>C (p.Val104=)
17g.39665989G>TCA499889279TCAPc.384G>T (p.Val128=)
c.312G>T (p.Val104=)
17g.39665990G>ACA399305462TCAPc.385G>A (p.Asp129Asn)
c.313G>A (p.Asp105Asn)
17g.39665990G>CCA399305464TCAPc.385G>C (p.Asp129His)
c.313G>C (p.Asp105His)
17g.39665990G>TCA399305466TCAPc.385G>T (p.Asp129Tyr)
c.313G>T (p.Asp105Tyr)
dbSNP gnomAD v4
17g.39665991A=CA2259200853TCAPc.386A= (p.Asp129=)
c.314A= (p.Asp105=)
17g.39665991A>CCA399305471TCAPc.386A>C (p.Asp129Ala)
c.314A>C (p.Asp105Ala)
ClinVar dbSNP gnomAD v4
17g.39665991A>GCA399305473TCAPc.386A>G (p.Asp129Gly)
c.314A>G (p.Asp105Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665991A>TCA399305475TCAPc.386A>T (p.Asp129Val)
c.314A>T (p.Asp105Val)
dbSNP
17g.39665992C>ACA399305479TCAPc.387C>A (p.Asp129Glu)
c.315C>A (p.Asp105Glu)
dbSNP
17g.39665992C=CA2259200854TCAPc.387C= (p.Asp129=)
c.315C= (p.Asp105=)
17g.39665992C>GCA8532904TCAPc.387C>G (p.Asp129Glu)
c.315C>G (p.Asp105Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39665992C>TCA499889280TCAPc.387C>T (p.Asp129=)
c.315C>T (p.Asp105=)
ClinVar dbSNP
17g.39665993C>ACA184980TCAPc.388C>A (p.Arg130Ser)
c.316C>A (p.Arg106Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39665993C=CA2259200855TCAPc.388C= (p.Arg130=)
c.316C= (p.Arg106=)
17g.39665993C>GCA399305487TCAPc.388C>G (p.Arg130Gly)
c.316C>G (p.Arg106Gly)
dbSNP
17g.39665993C>TCA134923TCAPc.388C>T (p.Arg130Cys)
c.316C>T (p.Arg106Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39665994G>ACA241516TCAPc.389G>A (p.Arg130His)
c.317G>A (p.Arg106His)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39665994G>CCA399305492TCAPc.389G>C (p.Arg130Pro)
c.317G>C (p.Arg106Pro)
ClinVar dbSNP gnomAD v4
17g.39665994G=CA2259200856TCAPc.389G= (p.Arg130=)
c.317G= (p.Arg106=)
17g.39665994G>TCA399305494TCAPc.389G>T (p.Arg130Leu)
c.317G>T (p.Arg106Leu)
dbSNP gnomAD v4 COSMIC
17g.39665995C>ACA499889286TCAPc.390C>A (p.Arg130=)
c.318C>A (p.Arg106=)
17g.39665995C=CA2259200857TCAPc.390C= (p.Arg130=)
c.318C= (p.Arg106=)
17g.39665995C>GCA499889284TCAPc.390C>G (p.Arg130=)
c.318C>G (p.Arg106=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.39665995C>TCA499889285TCAPc.390C>T (p.Arg130=)
c.318C>T (p.Arg106=)
17g.39665996C>ACA399305497TCAPc.391C>A (p.Gln131Lys)
c.319C>A (p.Gln107Lys)
17g.39665996C>GCA399305499TCAPc.391C>G (p.Gln131Glu)
c.319C>G (p.Gln107Glu)
17g.39665996C>TCA399305501TCAPc.391C>T (p.Gln131Ter)
c.319C>T (p.Gln107Ter)
dbSNP
17g.39665997A>CCA399305505TCAPc.392A>C (p.Gln131Pro)
c.320A>C (p.Gln107Pro)
17g.39665997A>GCA399305508TCAPc.392A>G (p.Gln131Arg)
c.320A>G (p.Gln107Arg)
dbSNP
17g.39665997A>TCA399305511TCAPc.392A>T (p.Gln131Leu)
c.320A>T (p.Gln107Leu)
17g.39665998G>ACA499889288TCAPc.393G>A (p.Gln131=)
c.321G>A (p.Gln107=)
dbSNP
17g.39665998G>CCA399305513TCAPc.393G>C (p.Gln131His)
c.321G>C (p.Gln107His)
dbSNP
17g.39665998G>TCA399305515TCAPc.393G>T (p.Gln131His)
c.321G>T (p.Gln107His)
dbSNP
17g.39665999G>ACA8532905TCAPc.394G>A (p.Glu132Lys)
c.322G>A (p.Glu108Lys)
ClinVar dbSNP ExAC gnomAD v2
17g.39665999G>CCA399305521TCAPc.394G>C (p.Glu132Gln)
c.322G>C (p.Glu108Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39665999G=CA2259200858TCAPc.394G= (p.Glu132=)
c.322G= (p.Glu108=)
17g.39665999G>TCA399305519TCAPc.394G>T (p.Glu132Ter)
c.322G>T (p.Glu108Ter)
dbSNP gnomAD v4
17g.39666000delCA2637633062TCAPc.395del (p.Glu132GlyfsTer?)
c.323del (p.Glu108GlyfsTer?)
gnomAD v4
17g.39666000A=CA2259200859TCAPc.395A= (p.Glu132=)
c.323A= (p.Glu108=)
17g.39666000A>CCA399305526TCAPc.395A>C (p.Glu132Ala)
c.323A>C (p.Glu108Ala)
dbSNP
17g.39666000A>GCA399305529TCAPc.395A>G (p.Glu132Gly)
c.323A>G (p.Glu108Gly)
dbSNP
17g.39666000A>TCA399305530TCAPc.395A>T (p.Glu132Val)
c.323A>T (p.Glu108Val)
dbSNP gnomAD v2 gnomAD v4
17g.39666001G>ACA499889290TCAPc.396G>A (p.Glu132=)
c.324G>A (p.Glu108=)
ClinVar dbSNP gnomAD v4
17g.39666001G>CCA399305534TCAPc.396G>C (p.Glu132Asp)
c.324G>C (p.Glu108Asp)
dbSNP
17g.39666001G=CA2259200860TCAPc.396G= (p.Glu132=)
c.324G= (p.Glu108=)
17g.39666001G>TCA399305537TCAPc.396G>T (p.Glu132Asp)
c.324G>T (p.Glu108Asp)
dbSNP gnomAD v4
17g.39666002G>ACA399305539TCAPc.397G>A (p.Val133Met)
c.325G>A (p.Val109Met)
ClinVar dbSNP
17g.39666002G>CCA399305542TCAPc.397G>C (p.Val133Leu)
c.325G>C (p.Val109Leu)
dbSNP
17g.39666002G>TCA399305544TCAPc.397G>T (p.Val133Leu)
c.325G>T (p.Val109Leu)
17g.39666002_39666017delCA2637633069TCAPc.397_412del (p.Val133SerfsTer?)
c.325_340del (p.Val109SerfsTer?)
gnomAD v4
17g.39666003T>ACA399305547TCAPc.398T>A (p.Val133Glu)
c.326T>A (p.Val109Glu)
dbSNP
17g.39666003T>CCA399305549TCAPc.398T>C (p.Val133Ala)
c.326T>C (p.Val109Ala)
17g.39666003T>GCA399305552TCAPc.398T>G (p.Val133Gly)
c.326T>G (p.Val109Gly)
dbSNP
17g.39666004G>ACA499889292TCAPc.399G>A (p.Val133=)
c.327G>A (p.Val109=)
17g.39666004G>CCA499889294TCAPc.399G>C (p.Val133=)
c.327G>C (p.Val109=)
17g.39666004G>TCA499889293TCAPc.399G>T (p.Val133=)
c.327G>T (p.Val109=)
dbSNP
17g.39666005G>ACA399305561TCAPc.400G>A (p.Ala134Thr)
c.328G>A (p.Ala110Thr)
dbSNP gnomAD v2
17g.39666005G>CCA399305558TCAPc.400G>C (p.Ala134Pro)
c.328G>C (p.Ala110Pro)
17g.39666005G=CA2259200861TCAPc.400G= (p.Ala134=)
c.328G= (p.Ala110=)
17g.39666005G>TCA399305554TCAPc.400G>T (p.Ala134Ser)
c.328G>T (p.Ala110Ser)
dbSNP gnomAD v4
17g.39666006C>ACA237513TCAPc.401C>A (p.Ala134Asp)
c.329C>A (p.Ala110Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39666006C=CA2259200862TCAPc.401C= (p.Ala134=)
c.329C= (p.Ala110=)
17g.39666006C>GCA399305563TCAPc.401C>G (p.Ala134Gly)
c.329C>G (p.Ala110Gly)
dbSNP
17g.39666006C>TCA399305562TCAPc.401C>T (p.Ala134Val)
c.329C>T (p.Ala110Val)
dbSNP
17g.39666007delCA2637633082TCAPc.402del (p.Glu135ArgfsTer?)
c.330del (p.Glu111ArgfsTer?)
ClinVar gnomAD v4
17g.39666007T>ACA499889296TCAPc.402T>A (p.Ala134=)
c.330T>A (p.Ala110=)
dbSNP
17g.39666007T>CCA499889297TCAPc.402T>C (p.Ala134=)
c.330T>C (p.Ala110=)
dbSNP
17g.39666007T>GCA8532906TCAPc.402T>G (p.Ala134=)
c.330T>G (p.Ala110=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39666007T=CA2259200863TCAPc.402T= (p.Ala134=)
c.330T= (p.Ala110=)
17g.39666008G>ACA399305564TCAPc.403G>A (p.Glu135Lys)
c.331G>A (p.Glu111Lys)
dbSNP gnomAD v4
17g.39666008G>CCA399305566TCAPc.403G>C (p.Glu135Gln)
c.331G>C (p.Glu111Gln)
dbSNP
17g.39666008G>TCA399305569TCAPc.403G>T (p.Glu135Ter)
c.331G>T (p.Glu111Ter)
gnomAD v4
17g.39666009A>CCA399305571TCAPc.404A>C (p.Glu135Ala)
c.332A>C (p.Glu111Ala)
17g.39666009A>GCA399305573TCAPc.404A>G (p.Glu135Gly)
c.332A>G (p.Glu111Gly)
dbSNP
17g.39666009A>TCA399305576TCAPc.404A>T (p.Glu135Val)
c.332A>T (p.Glu111Val)
dbSNP
17g.39666010G>ACA499889299TCAPc.405G>A (p.Glu135=)
c.333G>A (p.Glu111=)
gnomAD v4
17g.39666010G>CCA399305578TCAPc.405G>C (p.Glu135Asp)
c.333G>C (p.Glu111Asp)
dbSNP
17g.39666010G>TCA399305581TCAPc.405G>T (p.Glu135Asp)
c.333G>T (p.Glu111Asp)
dbSNP
17g.39666011A>CCA399305584TCAPc.406A>C (p.Ile136Leu)
c.334A>C (p.Ile112Leu)
ClinVar dbSNP
17g.39666011A>GCA399305586TCAPc.406A>G (p.Ile136Val)
c.334A>G (p.Ile112Val)
17g.39666011A>TCA399305588TCAPc.406A>T (p.Ile136Phe)
c.334A>T (p.Ile112Phe)
17g.39666012T>ACA399305742TCAPc.407T>A (p.Ile136Asn)
c.335T>A (p.Ile112Asn)
ClinVar dbSNP
17g.39666012T>CCA399305737TCAPc.407T>C (p.Ile136Thr)
c.335T>C (p.Ile112Thr)
17g.39666012T>GCA399305740TCAPc.407T>G (p.Ile136Ser)
c.335T>G (p.Ile112Ser)
ClinVar dbSNP
17g.39666013delCA2637633102TCAPc.408del (p.Thr137GlnfsTer?)
c.336del (p.Thr113GlnfsTer?)
gnomAD v4
17g.39666013C>ACA499670482TCAPc.408C>A (p.Ile136=)
c.336C>A (p.Ile112=)
dbSNP
17g.39666013C>GCA399305744TCAPc.408C>G (p.Ile136Met)
c.336C>G (p.Ile112Met)
dbSNP
17g.39666013C>TCA499670483TCAPc.408C>T (p.Ile136=)
c.336C>T (p.Ile112=)
dbSNP
17g.39666013_39666015delinsACA2580093662TCAPc.408_410delinsA (p.Thr137LysfsTer?)
c.336_338delinsA (p.Thr113LysfsTer?)
ClinVar
17g.39666015_39666016delCA2576253852TCAPc.410_411del (p.Thr137LysfsTer?)
c.338_339del (p.Thr113LysfsTer?)
ClinVar
17g.39666014A>CCA399305749TCAPc.409A>C (p.Thr137Pro)
c.337A>C (p.Thr113Pro)
gnomAD v4
17g.39666014A>GCA399305751TCAPc.409A>G (p.Thr137Ala)
c.337A>G (p.Thr113Ala)
17g.39666014A>TCA399305753TCAPc.409A>T (p.Thr137Ser)
c.337A>T (p.Thr113Ser)
dbSNP
17g.39666015delCA2637633110TCAPc.410del (p.Thr137LysfsTer?)
c.338del (p.Thr113LysfsTer?)
gnomAD v4
17g.39666015C>ACA8532907TCAPc.410C>A (p.Thr137Lys)
c.338C>A (p.Thr113Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39666015C=CA2259200864TCAPc.410C= (p.Thr137=)
c.338C= (p.Thr113=)
17g.39666015C>GCA399305758TCAPc.410C>G (p.Thr137Arg)
c.338C>G (p.Thr113Arg)
dbSNP
17g.39666015C>TCA274680TCAPc.410C>T (p.Thr137Ile)
c.338C>T (p.Thr113Ile)
ClinVar dbSNP
17g.39666016A=CA2259200865TCAPc.411A= (p.Thr137=)
c.339A= (p.Thr113=)
17g.39666016A>CCA499670486TCAPc.411A>C (p.Thr137=)
c.339A>C (p.Thr113=)
dbSNP
17g.39666016A>GCA499670487TCAPc.411A>G (p.Thr137=)
c.339A>G (p.Thr113=)
COSMIC
17g.39666016A>TCA499670488TCAPc.411A>T (p.Thr137=)
c.339A>T (p.Thr113=)
17g.39666017A>CCA399305763TCAPc.412A>C (p.Lys138Gln)
c.340A>C (p.Lys114Gln)
17g.39666017A>GCA399305765TCAPc.412A>G (p.Lys138Glu)
c.340A>G (p.Lys114Glu)
dbSNP gnomAD v4
17g.39666017A>TCA399305768TCAPc.412A>T (p.Lys138Ter)
c.340A>T (p.Lys114Ter)
dbSNP
17g.39666018A>CCA399305776TCAPc.413A>C (p.Lys138Thr)
c.341A>C (p.Lys114Thr)
17g.39666018A>GCA399305774TCAPc.413A>G (p.Lys138Arg)
c.341A>G (p.Lys114Arg)
dbSNP
17g.39666018A>TCA399305772TCAPc.413A>T (p.Lys138Met)
c.341A>T (p.Lys114Met)
dbSNP
17g.39666019G>ACA499670489TCAPc.414G>A (p.Lys138=)
c.342G>A (p.Lys114=)
dbSNP
17g.39666019G>CCA399305779TCAPc.414G>C (p.Lys138Asn)
c.342G>C (p.Lys114Asn)
dbSNP
17g.39666019G>TCA399305781TCAPc.414G>T (p.Lys138Asn)
c.342G>T (p.Lys114Asn)
gnomAD v4
17g.39666020C>ACA399305785TCAPc.415C>A (p.Gln139Lys)
c.343C>A (p.Gln115Lys)
17g.39666020C>GCA399305787TCAPc.415C>G (p.Gln139Glu)
c.343C>G (p.Gln115Glu)
dbSNP
17g.39666020C>TCA399305789TCAPc.415C>T (p.Gln139Ter)
c.343C>T (p.Gln115Ter)
ClinVar dbSNP
17g.39666021A>CCA399305792TCAPc.416A>C (p.Gln139Pro)
c.344A>C (p.Gln115Pro)
17g.39666021A>GCA399305795TCAPc.416A>G (p.Gln139Arg)
c.344A>G (p.Gln115Arg)
17g.39666021A>TCA399305797TCAPc.416A>T (p.Gln139Leu)
c.344A>T (p.Gln115Leu)
dbSNP
17g.39666022G>ACA499670493TCAPc.417G>A (p.Gln139=)
c.345G>A (p.Gln115=)
dbSNP
17g.39666022G>CCA399305800TCAPc.417G>C (p.Gln139His)
c.345G>C (p.Gln115His)
dbSNP
17g.39666022G>TCA399305802TCAPc.417G>T (p.Gln139His)
c.345G>T (p.Gln115His)
17g.39666023C>ACA399305805TCAPc.418C>A (p.Leu140Met)
c.346C>A (p.Leu116Met)
gnomAD v4
17g.39666023C>GCA399305806TCAPc.418C>G (p.Leu140Val)
c.346C>G (p.Leu116Val)
17g.39666023C>TCA499670494TCAPc.418C>T (p.Leu140=)
c.346C>T (p.Leu116=)
dbSNP
17g.39666024T>ACA399305814TCAPc.419T>A (p.Leu140Gln)
c.347T>A (p.Leu116Gln)
dbSNP
17g.39666024T>CCA399305812TCAPc.419T>C (p.Leu140Pro)
c.347T>C (p.Leu116Pro)
dbSNP
17g.39666024T>GCA399305810TCAPc.419T>G (p.Leu140Arg)
c.347T>G (p.Leu116Arg)
dbSNP
17g.39666025G>ACA499670498TCAPc.420G>A (p.Leu140=)
c.348G>A (p.Leu116=)
17g.39666025G>CCA499670499TCAPc.420G>C (p.Leu140=)
c.348G>C (p.Leu116=)
17g.39666025G>TCA499670500TCAPc.420G>T (p.Leu140=)
c.348G>T (p.Leu116=)
ClinVar dbSNP gnomAD v4
17g.39666025_39666026delinsGCCA2259200866TCAPc.420_421delinsGC (p.Leu140=)
c.348_349delinsGC (p.Leu116=)
17g.39666026C>ACA399305818TCAPc.421C>A (p.Pro141Thr)
c.349C>A (p.Pro117Thr)
dbSNP
17g.39666026C=CA2259200867TCAPc.421C= (p.Pro141=)
c.349C= (p.Pro117=)
17g.39666026C>GCA308849TCAPc.421C>G (p.Pro141Ala)
c.349C>G (p.Pro117Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39666026C>TCA399305821TCAPc.421C>T (p.Pro141Ser)
c.349C>T (p.Pro117Ser)
dbSNP
17g.39666030delCA771858561TCAPc.425del (p.Pro142LeufsTer?)
c.353del (p.Pro118LeufsTer?)
ClinVar dbSNP gnomAD v4
17g.39666027C>ACA399305824TCAPc.422C>A (p.Pro141His)
c.350C>A (p.Pro117His)
17g.39666027C=CA2259200868TCAPc.422C= (p.Pro141=)
c.350C= (p.Pro117=)
17g.39666027C>GCA399305826TCAPc.422C>G (p.Pro141Arg)
c.350C>G (p.Pro117Arg)
17g.39666027C>TCA399305828TCAPc.422C>T (p.Pro141Leu)
c.350C>T (p.Pro117Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39666028C>ACA499670501TCAPc.423C>A (p.Pro141=)
c.351C>A (p.Pro117=)
17g.39666028C=CA2259200869TCAPc.423C= (p.Pro141=)
c.351C= (p.Pro117=)
17g.39666028C>GCA499670502TCAPc.423C>G (p.Pro141=)
c.351C>G (p.Pro117=)
dbSNP
17g.39666028C>TCA499670503TCAPc.423C>T (p.Pro141=)
c.351C>T (p.Pro117=)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.39666029C>ACA290434183TCAPc.424C>A (p.Pro142Thr)
c.352C>A (p.Pro118Thr)
ClinVar dbSNP
17g.39666029C=CA2259200870TCAPc.424C= (p.Pro142=)
c.352C= (p.Pro118=)
17g.39666029C>GCA399305832TCAPc.424C>G (p.Pro142Ala)
c.352C>G (p.Pro118Ala)
17g.39666029C>TCA399305834TCAPc.424C>T (p.Pro142Ser)
c.352C>T (p.Pro118Ser)
dbSNP gnomAD v4
17g.39666030C>ACA399305836TCAPc.425C>A (p.Pro142His)
c.353C>A (p.Pro118His)
dbSNP gnomAD v2 gnomAD v4
17g.39666030C=CA2259200871TCAPc.425C= (p.Pro142=)
c.353C= (p.Pro118=)
17g.39666030C>GCA399305839TCAPc.425C>G (p.Pro142Arg)
c.353C>G (p.Pro118Arg)
dbSNP gnomAD v2 gnomAD v4
17g.39666030C>TCA399305840TCAPc.425C>T (p.Pro142Leu)
c.353C>T (p.Pro118Leu)
gnomAD v4
17g.39666030_39666031delCA2573153710TCAPc.425_426del (p.Pro142ArgfsTer?)
c.353_354del (p.Pro118ArgfsTer?)
ClinVar dbSNP
17g.39666031T>ACA499670507TCAPc.426T>A (p.Pro142=)
c.354T>A (p.Pro118=)
dbSNP
17g.39666031T>CCA499670508TCAPc.426T>C (p.Pro142=)
c.354T>C (p.Pro118=)
dbSNP gnomAD v4
17g.39666031T>GCA499670509TCAPc.426T>G (p.Pro142=)
c.354T>G (p.Pro118=)
ClinVar dbSNP gnomAD v4
17g.39666031T=CA2259200872TCAPc.426T= (p.Pro142=)
c.354T= (p.Pro118=)
17g.39666032G>ACA399305847TCAPc.427G>A (p.Val143Met)
c.355G>A (p.Val119Met)
dbSNP gnomAD v2 gnomAD v4
17g.39666032G>CCA399305844TCAPc.427G>C (p.Val143Leu)
c.355G>C (p.Val119Leu)
dbSNP gnomAD v4
17g.39666032G=CA2259200873TCAPc.427G= (p.Val143=)
c.355G= (p.Val119=)
17g.39666032G>TCA399305843TCAPc.427G>T (p.Val143Leu)
c.355G>T (p.Val119Leu)
dbSNP gnomAD v3 gnomAD v4
17g.39666033T>ACA399305850TCAPc.428T>A (p.Val143Glu)
c.356T>A (p.Val119Glu)
17g.39666033T>CCA399305853TCAPc.428T>C (p.Val143Ala)
c.356T>C (p.Val119Ala)
ClinVar dbSNP
17g.39666033T>GCA399305851TCAPc.428T>G (p.Val143Gly)
c.356T>G (p.Val119Gly)
ClinVar
17g.39666034G>ACA499670510TCAPc.429G>A (p.Val143=)
c.357G>A (p.Val119=)
dbSNP gnomAD v2 gnomAD v4
17g.39666034G>CCA499670511TCAPc.429G>C (p.Val143=)
c.357G>C (p.Val119=)
17g.39666034G=CA2259200874TCAPc.429G= (p.Val143=)
c.357G= (p.Val119=)
17g.39666034G>TCA499670513TCAPc.429G>T (p.Val143=)
c.357G>T (p.Val119=)
gnomAD v4 COSMIC
17g.39666035G>ACA399305856TCAPc.430G>A (p.Val144Met)
c.358G>A (p.Val120Met)
dbSNP
17g.39666035G>CCA399305861TCAPc.430G>C (p.Val144Leu)
c.358G>C (p.Val120Leu)
dbSNP
17g.39666035G>TCA399305859TCAPc.430G>T (p.Val144Leu)
c.358G>T (p.Val120Leu)
dbSNP
17g.39666036T>ACA399305864TCAPc.431T>A (p.Val144Glu)
c.359T>A (p.Val120Glu)
17g.39666036T>CCA399305866TCAPc.431T>C (p.Val144Ala)
c.359T>C (p.Val120Ala)
17g.39666036T>GCA399305868TCAPc.431T>G (p.Val144Gly)
c.359T>G (p.Val120Gly)
17g.39666037G>ACA499670514TCAPc.432G>A (p.Val144=)
c.360G>A (p.Val120=)
dbSNP
17g.39666037G>CCA499670516TCAPc.432G>C (p.Val144=)
c.360G>C (p.Val120=)
17g.39666037G>TCA499670517TCAPc.432G>T (p.Val144=)
c.360G>T (p.Val120=)
dbSNP gnomAD v4
17g.39666038C>ACA399305872TCAPc.433C>A (p.Pro145Thr)
c.361C>A (p.Pro121Thr)
17g.39666038C=CA2259200875TCAPc.433C= (p.Pro145=)
c.361C= (p.Pro121=)
17g.39666038C>GCA399305873TCAPc.433C>G (p.Pro145Ala)
c.361C>G (p.Pro121Ala)
dbSNP
17g.39666038C>TCA399305875TCAPc.433C>T (p.Pro145Ser)
c.361C>T (p.Pro121Ser)
dbSNP gnomAD v4
17g.39666039C>ACA399305877TCAPc.434C>A (p.Pro145His)
c.362C>A (p.Pro121His)
gnomAD v4
17g.39666039C>GCA399305879TCAPc.434C>G (p.Pro145Arg)
c.362C>G (p.Pro121Arg)
gnomAD v4
17g.39666039C>TCA399305881TCAPc.434C>T (p.Pro145Leu)
c.362C>T (p.Pro121Leu)
17g.39666040T>ACA499670518TCAPc.435T>A (p.Pro145=)
c.363T>A (p.Pro121=)
dbSNP
17g.39666040T>CCA499670519TCAPc.435T>C (p.Pro145=)
c.363T>C (p.Pro121=)
dbSNP gnomAD v4
17g.39666040T>GCA499670520TCAPc.435T>G (p.Pro145=)
c.363T>G (p.Pro121=)
ClinVar dbSNP gnomAD v4
17g.39666040_39666058delCA2576253853TCAPc.435_453del (p.Val146PhefsTer?)
c.363_381del (p.Val122PhefsTer?)
17g.39666041G>ACA399305887TCAPc.436G>A (p.Val146Ile)
c.364G>A (p.Val122Ile)
dbSNP
17g.39666041G>CCA399305885TCAPc.436G>C (p.Val146Leu)
c.364G>C (p.Val122Leu)
dbSNP gnomAD v4
17g.39666041G=CA2259200876TCAPc.436G= (p.Val146=)
c.364G= (p.Val122=)
17g.39666041G>TCA8532908TCAPc.436G>T (p.Val146Phe)
c.364G>T (p.Val122Phe)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.39666042T>ACA399305890TCAPc.437T>A (p.Val146Asp)
c.365T>A (p.Val122Asp)
dbSNP
17g.39666042T>CCA399305891TCAPc.437T>C (p.Val146Ala)
c.365T>C (p.Val122Ala)
dbSNP
17g.39666042T>GCA399305893TCAPc.437T>G (p.Val146Gly)
c.365T>G (p.Val122Gly)
dbSNP
17g.39666043C>ACA499670523TCAPc.438C>A (p.Val146=)
c.366C>A (p.Val122=)
dbSNP
17g.39666043C=CA2259200877TCAPc.438C= (p.Val146=)
c.366C= (p.Val122=)
17g.39666043C>GCA499670524TCAPc.438C>G (p.Val146=)
c.366C>G (p.Val122=)
dbSNP gnomAD v4
17g.39666043C>TCA499670525TCAPc.438C>T (p.Val146=)
c.366C>T (p.Val122=)
dbSNP gnomAD v4
17g.39666044A=CA2259200878TCAPc.439A= (p.Ser147=)
c.367A= (p.Ser123=)
17g.39666044A>CCA399305895TCAPc.439A>C (p.Ser147Arg)
c.367A>C (p.Ser123Arg)
17g.39666044A>GCA399305897TCAPc.439A>G (p.Ser147Gly)
c.367A>G (p.Ser123Gly)
dbSNP gnomAD v4
17g.39666044A>TCA399305900TCAPc.439A>T (p.Ser147Cys)
c.367A>T (p.Ser123Cys)
dbSNP
17g.39666045G>ACA399305902TCAPc.440G>A (p.Ser147Asn)
c.368G>A (p.Ser123Asn)
dbSNP gnomAD v4
17g.39666045G>CCA399305909TCAPc.440G>C (p.Ser147Thr)
c.368G>C (p.Ser123Thr)
dbSNP
17g.39666045G>TCA399305912TCAPc.440G>T (p.Ser147Ile)
c.368G>T (p.Ser123Ile)
gnomAD v4
17g.39666046C>ACA399305915TCAPc.441C>A (p.Ser147Arg)
c.369C>A (p.Ser123Arg)
dbSNP
17g.39666046C=CA2259200879TCAPc.441C= (p.Ser147=)
c.369C= (p.Ser123=)
17g.39666046C>GCA399305917TCAPc.441C>G (p.Ser147Arg)
c.369C>G (p.Ser123Arg)
dbSNP
17g.39666046C>TCA499670527TCAPc.441C>T (p.Ser147=)
c.369C>T (p.Ser123=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.39666047A>CCA399305922TCAPc.442A>C (p.Lys148Gln)
c.370A>C (p.Lys124Gln)
17g.39666047A>GCA399305924TCAPc.442A>G (p.Lys148Glu)
c.370A>G (p.Lys124Glu)
17g.39666047A>TCA399305920TCAPc.442A>T (p.Lys148Ter)
c.370A>T (p.Lys124Ter)
17g.39666048A>CCA399305927TCAPc.443A>C (p.Lys148Thr)
c.371A>C (p.Lys124Thr)
17g.39666048A>GCA399305929TCAPc.443A>G (p.Lys148Arg)
c.371A>G (p.Lys124Arg)
dbSNP
17g.39666048A>TCA399305931TCAPc.443A>T (p.Lys148Met)
c.371A>T (p.Lys124Met)
dbSNP
17g.39666049G>ACA499670528TCAPc.444G>A (p.Lys148=)
c.372G>A (p.Lys124=)
dbSNP
17g.39666049G>CCA399305934TCAPc.444G>C (p.Lys148Asn)
c.372G>C (p.Lys124Asn)
dbSNP
17g.39666049G>TCA399305936TCAPc.444G>T (p.Lys148Asn)
c.372G>T (p.Lys124Asn)
dbSNP gnomAD v4
17g.39666050C>ACA399305940TCAPc.445C>A (p.Pro149Thr)
c.373C>A (p.Pro125Thr)
17g.39666050C=CA2259200880TCAPc.445C= (p.Pro149=)
c.373C= (p.Pro125=)
17g.39666050C>GCA290434185TCAPc.445C>G (p.Pro149Ala)
c.373C>G (p.Pro125Ala)
ClinVar dbSNP gnomAD v4
17g.39666050C>TCA399305944TCAPc.445C>T (p.Pro149Ser)
c.373C>T (p.Pro125Ser)
dbSNP gnomAD v4
17g.39666052delCA2637633209TCAPc.447del (p.Gly150ValfsTer?)
c.375del (p.Gly126ValfsTer?)
gnomAD v4
17g.39666051C>ACA399305946TCAPc.446C>A (p.Pro149His)
c.374C>A (p.Pro125His)
17g.39666051C=CA2259200881TCAPc.446C= (p.Pro149=)
c.374C= (p.Pro125=)
17g.39666051C>GCA399305949TCAPc.446C>G (p.Pro149Arg)
c.374C>G (p.Pro125Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.39666051C>TCA399305951TCAPc.446C>T (p.Pro149Leu)
c.374C>T (p.Pro125Leu)
dbSNP gnomAD v4
17g.39666052C>ACA499670533TCAPc.447C>A (p.Pro149=)
c.375C>A (p.Pro125=)
dbSNP gnomAD v4
17g.39666052C=CA2259200882TCAPc.447C= (p.Pro149=)
c.375C= (p.Pro125=)
17g.39666052C>GCA499670534TCAPc.447C>G (p.Pro149=)
c.375C>G (p.Pro125=)
dbSNP
17g.39666052C>TCA8532909TCAPc.447C>T (p.Pro149=)
c.375C>T (p.Pro125=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39666053G>ACA069190TCAPc.448G>A (p.Gly150Ser)
c.376G>A (p.Gly126Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39666053G>CCA399305955TCAPc.448G>C (p.Gly150Arg)
c.376G>C (p.Gly126Arg)
ClinVar dbSNP
17g.39666053G=CA2259200884TCAPc.448G= (p.Gly150=)
c.376G= (p.Gly126=)
17g.39666053G>TCA399305958TCAPc.448G>T (p.Gly150Cys)
c.376G>T (p.Gly126Cys)
dbSNP gnomAD v2 gnomAD v4
17g.39666057_39666058insCCTGGTGCCA2259200883TCAPc.452_453insCCTGGTGC (p.Arg153ValfsTer?)
c.380_381insCCTGGTGC (p.Arg129ValfsTer?)
dbSNP gnomAD v4
17g.39666054G>ACA399305962TCAPc.449G>A (p.Gly150Asp)
c.377G>A (p.Gly126Asp)
ClinVar dbSNP gnomAD v4
17g.39666054G>CCA290434192TCAPc.449G>C (p.Gly150Ala)
c.377G>C (p.Gly126Ala)
dbSNP
17g.39666054G=CA2259200885TCAPc.449G= (p.Gly150=)
c.377G= (p.Gly126=)
17g.39666054G>TCA399305966TCAPc.449G>T (p.Gly150Val)
c.377G>T (p.Gly126Val)
gnomAD v4
17g.39666055_39666056delCA2733560040TCAPc.450_451del (p.Ala151ThrfsTer?)
c.378_379del (p.Ala127ThrfsTer?)
dbSNP
17g.39666055T>ACA499670537TCAPc.450T>A (p.Gly150=)
c.378T>A (p.Gly126=)
dbSNP
17g.39666055T>CCA499670538TCAPc.450T>C (p.Gly150=)
c.378T>C (p.Gly126=)
dbSNP gnomAD v4
17g.39666055T>GCA499670539TCAPc.450T>G (p.Gly150=)
c.378T>G (p.Gly126=)
dbSNP
17g.39666055T=CA2259200886TCAPc.450T= (p.Gly150=)
c.378T= (p.Gly126=)
17g.39666055dupCA2573153711TCAPc.450dup (p.Ala151CysfsTer?)
c.378dup (p.Ala127CysfsTer?)
ClinVar dbSNP
17g.39666056G>ACA399305969TCAPc.451G>A (p.Ala151Thr)
c.379G>A (p.Ala127Thr)
dbSNP gnomAD v4
17g.39666056G>CCA399305971TCAPc.451G>C (p.Ala151Pro)
c.379G>C (p.Ala127Pro)
17g.39666056G>TCA399305974TCAPc.451G>T (p.Ala151Ser)
c.379G>T (p.Ala127Ser)
gnomAD v4
17g.39666056_39666074delinsGCACTTCGTCGCTCCCTGTCA2259200887TCAPc.451_469delinsGCACTTCGTCGCTCCCTGT (p.Ala151=)
c.379_397delinsGCACTTCGTCGCTCCCTGT (p.Ala127=)
17g.39666057C>ACA399305977TCAPc.452C>A (p.Ala151Glu)
c.380C>A (p.Ala127Glu)
COSMIC
17g.39666057C=CA2259200889TCAPc.452C= (p.Ala151=)
c.380C= (p.Ala127=)
17g.39666057C>GCA399305980TCAPc.452C>G (p.Ala151Gly)
c.380C>G (p.Ala127Gly)
dbSNP
17g.39666057C>TCA8532911TCAPc.452C>T (p.Ala151Val)
c.380C>T (p.Ala127Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39666057_39666058delinsCACA2259200888TCAPc.452_453delinsCA (p.Ala151=)
c.380_381delinsCA (p.Ala127=)
17g.39666057_39666058delinsTCCA916080660TCAPc.452_453delinsTC (p.Ala151Val)
c.380_381delinsTC (p.Ala127Val)
ClinVar dbSNP
17g.39666058_39666075delCA8532910TCAPc.453_470del (p.Leu152_Ser157del)
c.381_398del (p.Leu128_Ser133del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.39666057_39666058insCCTTCGTCGCTCCCTGTCA2637633260TCAPc.452_453insCCTTCGTCGCTCCCTGT (p.Ser157TyrfsTer?)
c.380_381insCCTTCGTCGCTCCCTGT (p.Ser133TyrfsTer?)
gnomAD v4
17g.39666058A=CA180790TCAPc.453A= (p.Ala151=)
c.381A= (p.Ala127=)
17g.39666058A>CCA282451TCAPc.453A>C (p.Ala151=)
c.381A>C (p.Ala127=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39666058A>GCA290434202TCAPc.453A>G (p.Ala151=)
c.381A>G (p.Ala127=)
dbSNP
17g.39666058A>TCA499670544TCAPc.453A>T (p.Ala151=)
c.381A>T (p.Ala127=)
17g.39666059C>ACA399305991TCAPc.454C>A (p.Leu152Ile)
c.382C>A (p.Leu128Ile)
gnomAD v4
17g.39666059C=CA2259200890TCAPc.454C= (p.Leu152=)
c.382C= (p.Leu128=)
17g.39666059C>GCA399305993TCAPc.454C>G (p.Leu152Val)
c.382C>G (p.Leu128Val)
ClinVar dbSNP
17g.39666059C>TCA399305989TCAPc.454C>T (p.Leu152Phe)
c.382C>T (p.Leu128Phe)
dbSNP gnomAD v2 gnomAD v4
17g.39666059_39666060insCCCA2733560104TCAPc.454_455insCC (p.Leu152ProfsTer?)
c.382_383insCC (p.Leu128ProfsTer?)
dbSNP
17g.39666060T>ACA399305997TCAPc.455T>A (p.Leu152His)
c.383T>A (p.Leu128His)
17g.39666060T>CCA399305999TCAPc.455T>C (p.Leu152Pro)
c.383T>C (p.Leu128Pro)
17g.39666060T>GCA399306001TCAPc.455T>G (p.Leu152Arg)
c.383T>G (p.Leu128Arg)
17g.39666060_39666061insCCCTGCA2809442607TCAPc.455_456insCCCTG (p.Arg153ProfsTer?)
c.383_384insCCCTG (p.Arg129ProfsTer?)
17g.39666061T>ACA499670546TCAPc.456T>A (p.Leu152=)
c.384T>A (p.Leu128=)
17g.39666061T>CCA499670547TCAPc.456T>C (p.Leu152=)
c.384T>C (p.Leu128=)
17g.39666061T>GCA499670545TCAPc.456T>G (p.Leu152=)
c.384T>G (p.Leu128=)
dbSNP
17g.39666061T=CA2259200891TCAPc.456T= (p.Leu152=)
c.384T= (p.Leu128=)

Number of alleles fetched