Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31536184_31536186delinsTTCCA2293861906DSG2c.1424-18_1424-16delinsTTC (n.1424-18_1424-16delinsTTC)
c.890-18_890-16delinsTTC (n.890-18_890-16delinsTTC)
18g.31536185T>ACA629453663DSG2c.1424-17T>A (n.1424-17T>A)
c.890-17T>A (n.890-17T>A)
 dbSNP gnomAD v2 gnomAD v4
18g.31536185T>CCA042381DSG2c.1424-17T>C (n.1424-17T>C)
c.890-17T>C (n.890-17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536185T=CA2293861907DSG2c.1424-17T= (n.1424-17T=)
c.890-17T= (n.890-17T=)
18g.31536190_31536191delCA988925753DSG2c.1424-12_1424-11del (n.1424-12_1424-11del)
c.890-12_890-11del (n.890-12_890-11del)
 dbSNP gnomAD v3 gnomAD v4
18g.31536186C=CA2293861910DSG2c.1424-16C= (n.1424-16C=)
c.890-16C= (n.890-16C=)
18g.31536186C>GCA2293861908DSG2c.1424-16C>G (n.1424-16C>G)
c.890-16C>G (n.890-16C>G)
 dbSNP gnomAD v4
18g.31536186C>TCA629453664DSG2c.1424-16C>T (n.1424-16C>T)
c.890-16C>T (n.890-16C>T)
 dbSNP gnomAD v2
18g.31536186dupCA2293861909DSG2c.1424-16dup (n.1424-16dup)
c.890-16dup (n.890-16dup)
 dbSNP
18g.31536188C>ACA629453665DSG2c.1424-14C>A (n.1424-14C>A)
c.890-14C>A (n.890-14C>A)
 dbSNP gnomAD v2 gnomAD v4
18g.31536188C=CA2293861911DSG2c.1424-14C= (n.1424-14C=)
c.890-14C= (n.890-14C=)
18g.31536188C>GCA2641406712DSG2c.1424-14C>G (n.1424-14C>G)
c.890-14C>G (n.890-14C>G)
 gnomAD v4
18g.31536188C>TCA629453666DSG2c.1424-14C>T (n.1424-14C>T)
c.890-14C>T (n.890-14C>T)
 dbSNP gnomAD v2
18g.31536189T>CCA2293861913DSG2c.1424-13T>C (n.1424-13T>C)
c.890-13T>C (n.890-13T>C)
 dbSNP gnomAD v4
18g.31536189T=CA2293861912DSG2c.1424-13T= (n.1424-13T=)
c.890-13T= (n.890-13T=)
18g.31536190C=CA2293861915DSG2c.1424-12C= (n.1424-12C=)
c.890-12C= (n.890-12C=)
18g.31536190C>TCA629453667DSG2c.1424-12C>T (n.1424-12C>T)
c.890-12C>T (n.890-12C>T)
 dbSNP gnomAD v2 gnomAD v4
18g.31536190_31536196delinsCTTATTTCA2293861914DSG2c.1424-12_1424-6delinsCTTATTT (n.1424-12_1424-6delinsCTTATTT)
c.890-12_890-6delinsCTTATTT (n.890-12_890-6delinsCTTATTT)
18g.31536194_31536199delCA778417879DSG2c.1424-8_1424-3del (n.1424-8_1424-3del)
c.890-8_890-3del (n.890-8_890-3del)
 dbSNP gnomAD v4
18g.31536192T>CCA2576480443DSG2c.1424-10T>C (n.1424-10T>C)
c.890-10T>C (n.890-10T>C)
 ClinVar gnomAD v4
18g.31536193A>GCA2576480444DSG2c.1424-9A>G (n.1424-9A>G)
c.890-9A>G (n.890-9A>G)
18g.31536193A>TCA2812004039DSG2c.1424-9A>T (n.1424-9A>T)
c.890-9A>T (n.890-9A>T)
18g.31536194T>CCA2573332571DSG2c.1424-8T>C (n.1424-8T>C)
c.890-8T>C (n.890-8T>C)
18g.31536194_31536195delinsAACA2573054649DSG2c.1424-8_1424-7delinsAA (n.1424-8_1424-7delinsAA)
c.890-8_890-7delinsAA (n.890-8_890-7delinsAA)
 ClinVar
18g.31536198delCA2641406713DSG2c.1424-4del (n.1424-4del)
c.890-4del (n.890-4del)
 gnomAD v4
18g.31536200A>CCA402141059DSG2c.1424-2A>C (n.1424-2A>C)
c.890-2A>C (n.890-2A>C)
18g.31536200A>GCA402141067DSG2c.1424-2A>G (n.1424-2A>G)
c.890-2A>G (n.890-2A>G)
18g.31536200A>TCA402141068DSG2c.1424-2A>T (n.1424-2A>T)
c.890-2A>T (n.890-2A>T)
18g.31536201G>ACA402141072DSG2c.1424-1G>A (n.1424-1G>A)
c.890-1G>A (n.890-1G>A)
18g.31536201G>CCA402141074DSG2c.1424-1G>C (n.1424-1G>C)
c.890-1G>C (n.890-1G>C)
18g.31536201G=CA2293861916DSG2c.1424-1G= (n.1424-1G=)
c.890-1G= (n.890-1G=)
18g.31536201G>TCA042390DSG2c.1424-1G>T (n.1424-1G>T)
c.890-1G>T (n.890-1G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536202A>CCA402141099DSG2c.1424A>C (p.Asp475Ala)
c.890A>C (p.Asp297Ala)
18g.31536202A>GCA402141091DSG2c.1424A>G (p.Asp475Gly)
c.890A>G (p.Asp297Gly)
18g.31536202A>TCA402141096DSG2c.1424A>T (p.Asp475Val)
c.890A>T (p.Asp297Val)
18g.31536203T>ACA402141102DSG2c.1425T>A (p.Asp475Glu)
c.891T>A (p.Asp297Glu)
18g.31536203T>CCA503600639DSG2c.1425T>C (p.Asp475=)
c.891T>C (p.Asp297=)
18g.31536203T>GCA402141103DSG2c.1425T>G (p.Asp475Glu)
c.891T>G (p.Asp297Glu)
18g.31536204T>ACA402141104DSG2c.1426T>A (p.Tyr476Asn)
c.892T>A (p.Tyr298Asn)
18g.31536204T>CCA402141105DSG2c.1426T>C (p.Tyr476His)
c.892T>C (p.Tyr298His)
 gnomAD v4
18g.31536204T>GCA402141106DSG2c.1426T>G (p.Tyr476Asp)
c.892T>G (p.Tyr298Asp)
18g.31536205A>CCA402141114DSG2c.1427A>C (p.Tyr476Ser)
c.893A>C (p.Tyr298Ser)
18g.31536205A>GCA402141108DSG2c.1427A>G (p.Tyr476Cys)
c.893A>G (p.Tyr298Cys)
18g.31536205A>TCA402141110DSG2c.1427A>T (p.Tyr476Phe)
c.893A>T (p.Tyr298Phe)
 ClinVar gnomAD v4
18g.31536206T>ACA402141116DSG2c.1428T>A (p.Tyr476Ter)
c.894T>A (p.Tyr298Ter)
18g.31536206T>CCA503600640DSG2c.1428T>C (p.Tyr476=)
c.894T>C (p.Tyr298=)
18g.31536206T>GCA402141119DSG2c.1428T>G (p.Tyr476Ter)
c.894T>G (p.Tyr298Ter)
18g.31536207C>ACA402141121DSG2c.1429C>A (p.Pro477Thr)
c.895C>A (p.Pro299Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31536207C=CA2293861917DSG2c.1429C= (p.Pro477=)
c.895C= (p.Pro299=)
18g.31536207C>GCA297741214DSG2c.1429C>G (p.Pro477Ala)
c.895C>G (p.Pro299Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.31536207C>TCA402141124DSG2c.1429C>T (p.Pro477Ser)
c.895C>T (p.Pro299Ser)
 COSMIC
18g.31536208C>ACA402141126DSG2c.1430C>A (p.Pro477His)
c.896C>A (p.Pro299His)
18g.31536208C>GCA402141128DSG2c.1430C>G (p.Pro477Arg)
c.896C>G (p.Pro299Arg)
18g.31536208C>TCA402141129DSG2c.1430C>T (p.Pro477Leu)
c.896C>T (p.Pro299Leu)
18g.31536209T>ACA503600642DSG2c.1431T>A (p.Pro477=)
c.897T>A (p.Pro299=)
18g.31536209T>CCA503600643DSG2c.1431T>C (p.Pro477=)
c.897T>C (p.Pro299=)
18g.31536209T>GCA503600644DSG2c.1431T>G (p.Pro477=)
c.897T>G (p.Pro299=)
18g.31536210A>CCA503600645DSG2c.1432A>C (p.Arg478=)
c.898A>C (p.Arg300=)
18g.31536210A>GCA402141132DSG2c.1432A>G (p.Arg478Gly)
c.898A>G (p.Arg300Gly)
18g.31536210A>TCA402141136DSG2c.1432A>T (p.Arg478Ter)
c.898A>T (p.Arg300Ter)
18g.31536211G>ACA402141141DSG2c.1433G>A (p.Arg478Lys)
c.899G>A (p.Arg300Lys)
18g.31536211G>CCA402141147DSG2c.1433G>C (p.Arg478Thr)
c.899G>C (p.Arg300Thr)
18g.31536211G>TCA402141153DSG2c.1433G>T (p.Arg478Ile)
c.899G>T (p.Arg300Ile)
18g.31536211dupCA913188954DSG2c.1433dup (p.Thr480AsnfsTer11)
c.899dup (p.Thr302AsnfsTer11)
 ClinVar
18g.31536212A=CA2293861918DSG2c.1434A= (p.Arg478=)
c.900A= (p.Arg300=)
18g.31536212A>CCA402141156DSG2c.1434A>C (p.Arg478Ser)
c.900A>C (p.Arg300Ser)
18g.31536212A>GCA042457DSG2c.1434A>G (p.Arg478=)
c.900A>G (p.Arg300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536212A>TCA402141157DSG2c.1434A>T (p.Arg478Ser)
c.900A>T (p.Arg300Ser)
18g.31536213A=CA2293861919DSG2c.1435A= (p.Lys479=)
c.901A= (p.Lys301=)
18g.31536213A>CCA402141167DSG2c.1435A>C (p.Lys479Gln)
c.901A>C (p.Lys301Gln)
18g.31536213A>GCA042472DSG2c.1435A>G (p.Lys479Glu)
c.901A>G (p.Lys301Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536213A>TCA402141170DSG2c.1435A>T (p.Lys479Ter)
c.901A>T (p.Lys301Ter)
18g.31536214A>CCA402141175DSG2c.1436A>C (p.Lys479Thr)
c.902A>C (p.Lys301Thr)
18g.31536214A>GCA402141177DSG2c.1436A>G (p.Lys479Arg)
c.902A>G (p.Lys301Arg)
18g.31536214A>TCA402141181DSG2c.1436A>T (p.Lys479Ile)
c.902A>T (p.Lys301Ile)
18g.31536215A>CCA402141182DSG2c.1437A>C (p.Lys479Asn)
c.903A>C (p.Lys301Asn)
 gnomAD v4
18g.31536215A>GCA503600650DSG2c.1437A>G (p.Lys479=)
c.903A>G (p.Lys301=)
18g.31536215A>TCA402141185DSG2c.1437A>T (p.Lys479Asn)
c.903A>T (p.Lys301Asn)
18g.31536216A=CA2293861920DSG2c.1438A= (p.Thr480=)
c.904A= (p.Thr302=)
18g.31536216A>CCA402141192DSG2c.1438A>C (p.Thr480Pro)
c.904A>C (p.Thr302Pro)
18g.31536216A>GCA297741233DSG2c.1438A>G (p.Thr480Ala)
c.904A>G (p.Thr302Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536216A>TCA402141194DSG2c.1438A>T (p.Thr480Ser)
c.904A>T (p.Thr302Ser)
18g.31536217C>ACA402141203DSG2c.1439C>A (p.Thr480Asn)
c.905C>A (p.Thr302Asn)
 gnomAD v4
18g.31536217C=CA2293861921DSG2c.1439C= (p.Thr480=)
c.905C= (p.Thr302=)
18g.31536217C>GCA402141201DSG2c.1439C>G (p.Thr480Ser)
c.905C>G (p.Thr302Ser)
18g.31536217C>TCA402141199DSG2c.1439C>T (p.Thr480Ile)
c.905C>T (p.Thr302Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31536218C>ACA503600651DSG2c.1440C>A (p.Thr480=)
c.906C>A (p.Thr302=)
 gnomAD v4
18g.31536218C>GCA503600653DSG2c.1440C>G (p.Thr480=)
c.906C>G (p.Thr302=)
18g.31536218C>TCA503600655DSG2c.1440C>T (p.Thr480=)
c.906C>T (p.Thr302=)
18g.31536219A=CA2293861922DSG2c.1441A= (p.Ile481=)
c.907A= (p.Ile303=)
18g.31536219A>CCA402141207DSG2c.1441A>C (p.Ile481Leu)
c.907A>C (p.Ile303Leu)
18g.31536219A>GCA042483DSG2c.1441A>G (p.Ile481Val)
c.907A>G (p.Ile303Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536219A>TCA402141218DSG2c.1441A>T (p.Ile481Phe)
c.907A>T (p.Ile303Phe)
18g.31536220T>ACA402141222DSG2c.1442T>A (p.Ile481Asn)
c.908T>A (p.Ile303Asn)
18g.31536220T>CCA042497DSG2c.1442T>C (p.Ile481Thr)
c.908T>C (p.Ile303Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536220T>GCA402141223DSG2c.1442T>G (p.Ile481Ser)
c.908T>G (p.Ile303Ser)
18g.31536220T=CA2293861923DSG2c.1442T= (p.Ile481=)
c.908T= (p.Ile303=)
18g.31536221C>ACA503600658DSG2c.1443C>A (p.Ile481=)
c.909C>A (p.Ile303=)
18g.31536221C>GCA402141224DSG2c.1443C>G (p.Ile481Met)
c.909C>G (p.Ile303Met)
 dbSNP gnomAD v4
18g.31536221C>TCA503600657DSG2c.1443C>T (p.Ile481=)
c.909C>T (p.Ile303=)
18g.31536222A>CCA402141225DSG2c.1444A>C (p.Thr482Pro)
c.910A>C (p.Thr304Pro)
18g.31536222A>GCA402141226DSG2c.1444A>G (p.Thr482Ala)
c.910A>G (p.Thr304Ala)
18g.31536222A>TCA402141229DSG2c.1444A>T (p.Thr482Ser)
c.910A>T (p.Thr304Ser)
18g.31536223C>ACA402141231DSG2c.1445C>A (p.Thr482Asn)
c.911C>A (p.Thr304Asn)
 dbSNP gnomAD v2 gnomAD v4
18g.31536223C=CA2293861924DSG2c.1445C= (p.Thr482=)
c.911C= (p.Thr304=)
18g.31536223C>GCA402141232DSG2c.1445C>G (p.Thr482Ser)
c.911C>G (p.Thr304Ser)
18g.31536223C>TCA402141240DSG2c.1445C>T (p.Thr482Ile)
c.911C>T (p.Thr304Ile)
 dbSNP
18g.31536224T>ACA503600665DSG2c.1446T>A (p.Thr482=)
c.912T>A (p.Thr304=)
18g.31536224T>CCA503600661DSG2c.1446T>C (p.Thr482=)
c.912T>C (p.Thr304=)
18g.31536224T>GCA503600660DSG2c.1446T>G (p.Thr482=)
c.912T>G (p.Thr304=)
18g.31536225G>ACA10647463DSG2c.1447G>A (p.Gly483Ser)
c.913G>A (p.Gly305Ser)
 ClinVar dbSNP gnomAD v4
18g.31536225G>CCA402141242DSG2c.1447G>C (p.Gly483Arg)
c.913G>C (p.Gly305Arg)
18g.31536225G=CA2293861925DSG2c.1447G= (p.Gly483=)
c.913G= (p.Gly305=)
18g.31536225G>TCA402141241DSG2c.1447G>T (p.Gly483Cys)
c.913G>T (p.Gly305Cys)
18g.31536226G>ACA402141244DSG2c.1448G>A (p.Gly483Asp)
c.914G>A (p.Gly305Asp)
 ClinVar dbSNP gnomAD v4
18g.31536226G>CCA402141243DSG2c.1448G>C (p.Gly483Ala)
c.914G>C (p.Gly305Ala)
18g.31536226G>TCA402141248DSG2c.1448G>T (p.Gly483Val)
c.914G>T (p.Gly305Val)
18g.31536227C>ACA503600667DSG2c.1449C>A (p.Gly483=)
c.915C>A (p.Gly305=)
18g.31536227C=CA2293861926DSG2c.1449C= (p.Gly483=)
c.915C= (p.Gly305=)
18g.31536227C>GCA503600669DSG2c.1449C>G (p.Gly483=)
c.915C>G (p.Gly305=)
18g.31536227C>TCA503600668DSG2c.1449C>T (p.Gly483=)
c.915C>T (p.Gly305=)
 dbSNP
18g.31536228A>CCA402141252DSG2c.1450A>C (p.Thr484Pro)
c.916A>C (p.Thr306Pro)
18g.31536228A>GCA402141255DSG2c.1450A>G (p.Thr484Ala)
c.916A>G (p.Thr306Ala)
18g.31536228A>TCA402141253DSG2c.1450A>T (p.Thr484Ser)
c.916A>T (p.Thr306Ser)
18g.31536229C>ACA402141257DSG2c.1451C>A (p.Thr484Lys)
c.917C>A (p.Thr306Lys)
18g.31536229C=CA2293861927DSG2c.1451C= (p.Thr484=)
c.917C= (p.Thr306=)
18g.31536229C>GCA402141261DSG2c.1451C>G (p.Thr484Arg)
c.917C>G (p.Thr306Arg)
18g.31536229C>TCA297741280DSG2c.1451C>T (p.Thr484Ile)
c.917C>T (p.Thr306Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31536230A>CCA503600671DSG2c.1452A>C (p.Thr484=)
c.918A>C (p.Thr306=)
18g.31536230A>GCA503600672DSG2c.1452A>G (p.Thr484=)
c.918A>G (p.Thr306=)
 ClinVar dbSNP gnomAD v4
18g.31536230A>TCA503600673DSG2c.1452A>T (p.Thr484=)
c.918A>T (p.Thr306=)
18g.31536231G>ACA402141263DSG2c.1453G>A (p.Val485Ile)
c.919G>A (p.Val307Ile)
18g.31536231G>CCA402141266DSG2c.1453G>C (p.Val485Leu)
c.919G>C (p.Val307Leu)
18g.31536231G>TCA402141271DSG2c.1453G>T (p.Val485Phe)
c.919G>T (p.Val307Phe)
18g.31536232T>ACA402141272DSG2c.1454T>A (p.Val485Asp)
c.920T>A (p.Val307Asp)
18g.31536232T>CCA402141274DSG2c.1454T>C (p.Val485Ala)
c.920T>C (p.Val307Ala)
18g.31536232T>GCA402141275DSG2c.1454T>G (p.Val485Gly)
c.920T>G (p.Val307Gly)
18g.31536232_31536233delinsTCCA2293861928DSG2c.1454_1455delinsTC (p.Val485=)
c.920_921delinsTC (p.Val307=)
18g.31536233C>ACA503600678DSG2c.1455C>A (p.Val485=)
c.921C>A (p.Val307=)
 gnomAD v4
18g.31536233C=CA2293861929DSG2c.1455C= (p.Val485=)
c.921C= (p.Val307=)
18g.31536233C>GCA503600680DSG2c.1455C>G (p.Val485=)
c.921C>G (p.Val307=)
18g.31536233C>TCA503600681DSG2c.1455C>T (p.Val485=)
c.921C>T (p.Val307=)
 ClinVar dbSNP gnomAD v4
18g.31536234delCA988925766DSG2c.1456del (p.Ile487SerfsTer13)
c.922del (p.Ile309SerfsTer13)
 dbSNP gnomAD v3 gnomAD v4
18g.31536234C>ACA402141278DSG2c.1456C>A (p.Leu486Ile)
c.922C>A (p.Leu308Ile)
18g.31536234C>GCA402141280DSG2c.1456C>G (p.Leu486Val)
c.922C>G (p.Leu308Val)
18g.31536234C>TCA402141282DSG2c.1456C>T (p.Leu486Phe)
c.922C>T (p.Leu308Phe)
18g.31536235T>ACA402141286DSG2c.1457T>A (p.Leu486His)
c.923T>A (p.Leu308His)
18g.31536235T>CCA402141292DSG2c.1457T>C (p.Leu486Pro)
c.923T>C (p.Leu308Pro)
18g.31536235T>GCA402141293DSG2c.1457T>G (p.Leu486Arg)
c.923T>G (p.Leu308Arg)
18g.31536236T>ACA503600682DSG2c.1458T>A (p.Leu486=)
c.924T>A (p.Leu308=)
18g.31536236T>CCA042509DSG2c.1458T>C (p.Leu486=)
c.924T>C (p.Leu308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536236T>GCA503600683DSG2c.1458T>G (p.Leu486=)
c.924T>G (p.Leu308=)
18g.31536236T=CA2293861930DSG2c.1458T= (p.Leu486=)
c.924T= (p.Leu308=)
18g.31536237A>CCA402141297DSG2c.1459A>C (p.Ile487Leu)
c.925A>C (p.Ile309Leu)
18g.31536237A>GCA402141294DSG2c.1459A>G (p.Ile487Val)
c.925A>G (p.Ile309Val)
18g.31536237A>TCA402141295DSG2c.1459A>T (p.Ile487Phe)
c.925A>T (p.Ile309Phe)
18g.31536238T>ACA402141300DSG2c.1460T>A (p.Ile487Asn)
c.926T>A (p.Ile309Asn)
18g.31536238T>CCA021380DSG2c.1460T>C (p.Ile487Thr)
c.926T>C (p.Ile309Thr)
 ClinVar dbSNP
18g.31536238T>GCA297741309DSG2c.1460T>G (p.Ile487Ser)
c.926T>G (p.Ile309Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536238T=CA2293861931DSG2c.1460T= (p.Ile487=)
c.926T= (p.Ile309=)
18g.31536239C>ACA503600684DSG2c.1461C>A (p.Ile487=)
c.927C>A (p.Ile309=)
18g.31536239C>GCA402141304DSG2c.1461C>G (p.Ile487Met)
c.927C>G (p.Ile309Met)
18g.31536239C>TCA503600685DSG2c.1461C>T (p.Ile487=)
c.927C>T (p.Ile309=)
 COSMIC
18g.31536240A>CCA402141312DSG2c.1462A>C (p.Asn488His)
c.928A>C (p.Asn310His)
18g.31536240A>GCA402141315DSG2c.1462A>G (p.Asn488Asp)
c.928A>G (p.Asn310Asp)
18g.31536240A>TCA402141317DSG2c.1462A>T (p.Asn488Tyr)
c.928A>T (p.Asn310Tyr)
18g.31536241A=CA2293861932DSG2c.1463A= (p.Asn488=)
c.929A= (p.Asn310=)
18g.31536241A>CCA402141324DSG2c.1463A>C (p.Asn488Thr)
c.929A>C (p.Asn310Thr)
18g.31536241A>GCA021387DSG2c.1463A>G (p.Asn488Ser)
c.929A>G (p.Asn310Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536241A>TCA402141328DSG2c.1463A>T (p.Asn488Ile)
c.929A>T (p.Asn310Ile)
18g.31536242T>ACA402141334DSG2c.1464T>A (p.Asn488Lys)
c.930T>A (p.Asn310Lys)
18g.31536242T>CCA503600687DSG2c.1464T>C (p.Asn488=)
c.930T>C (p.Asn310=)
18g.31536242T>GCA402141335DSG2c.1464T>G (p.Asn488Lys)
c.930T>G (p.Asn310Lys)
18g.31536243G>ACA402141336DSG2c.1465G>A (p.Val489Ile)
c.931G>A (p.Val311Ile)
18g.31536243G>CCA402141343DSG2c.1465G>C (p.Val489Leu)
c.931G>C (p.Val311Leu)
18g.31536243G>TCA402141339DSG2c.1465G>T (p.Val489Phe)
c.931G>T (p.Val311Phe)
18g.31536244T>ACA402141345DSG2c.1466T>A (p.Val489Asp)
c.932T>A (p.Val311Asp)
18g.31536244T>CCA042528DSG2c.1466T>C (p.Val489Ala)
c.932T>C (p.Val311Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536244T>GCA402141347DSG2c.1466T>G (p.Val489Gly)
c.932T>G (p.Val311Gly)
18g.31536244T=CA2293861933DSG2c.1466T= (p.Val489=)
c.932T= (p.Val311=)
18g.31536245T>ACA503600688DSG2c.1467T>A (p.Val489=)
c.933T>A (p.Val311=)
18g.31536245T>CCA503600689DSG2c.1467T>C (p.Val489=)
c.933T>C (p.Val311=)
18g.31536245T>GCA503600690DSG2c.1467T>G (p.Val489=)
c.933T>G (p.Val311=)
18g.31536246G>ACA402141350DSG2c.1468G>A (p.Glu490Lys)
c.934G>A (p.Glu312Lys)
18g.31536246G>CCA402141351DSG2c.1468G>C (p.Glu490Gln)
c.934G>C (p.Glu312Gln)
18g.31536246G>TCA402141352DSG2c.1468G>T (p.Glu490Ter)
c.934G>T (p.Glu312Ter)
18g.31536247A=CA2293861934DSG2c.1469A= (p.Glu490=)
c.935A= (p.Glu312=)
18g.31536247A>CCA402141354DSG2c.1469A>C (p.Glu490Ala)
c.935A>C (p.Glu312Ala)
18g.31536247A>GCA297741353DSG2c.1469A>G (p.Glu490Gly)
c.935A>G (p.Glu312Gly)
 dbSNP
18g.31536247A>TCA402141355DSG2c.1469A>T (p.Glu490Val)
c.935A>T (p.Glu312Val)
18g.31536248A>CCA402141357DSG2c.1470A>C (p.Glu490Asp)
c.936A>C (p.Glu312Asp)
18g.31536248A>GCA503600691DSG2c.1470A>G (p.Glu490=)
c.936A>G (p.Glu312=)
18g.31536248A>TCA402141358DSG2c.1470A>T (p.Glu490Asp)
c.936A>T (p.Glu312Asp)
18g.31536249G>ACA402141361DSG2c.1471G>A (p.Asp491Asn)
c.937G>A (p.Asp313Asn)
18g.31536249G>CCA402141360DSG2c.1471G>C (p.Asp491His)
c.937G>C (p.Asp313His)
18g.31536249G>TCA402141359DSG2c.1471G>T (p.Asp491Tyr)
c.937G>T (p.Asp313Tyr)
18g.31536250A>CCA402141362DSG2c.1472A>C (p.Asp491Ala)
c.938A>C (p.Asp313Ala)
18g.31536250A>GCA402141363DSG2c.1472A>G (p.Asp491Gly)
c.938A>G (p.Asp313Gly)
18g.31536250A>TCA402141364DSG2c.1472A>T (p.Asp491Val)
c.938A>T (p.Asp313Val)
18g.31536251C>ACA402141365DSG2c.1473C>A (p.Asp491Glu)
c.939C>A (p.Asp313Glu)
18g.31536251C>GCA402141366DSG2c.1473C>G (p.Asp491Glu)
c.939C>G (p.Asp313Glu)
18g.31536251C>TCA503600692DSG2c.1473C>T (p.Asp491=)
c.939C>T (p.Asp313=)
18g.31536252A=CA2293861935DSG2c.1474A= (p.Ile492=)
c.940A= (p.Ile314=)
18g.31536252A>CCA402141368DSG2c.1474A>C (p.Ile492Leu)
c.940A>C (p.Ile314Leu)
18g.31536252A>GCA402141370DSG2c.1474A>G (p.Ile492Val)
c.940A>G (p.Ile314Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536252A>TCA402141371DSG2c.1474A>T (p.Ile492Phe)
c.940A>T (p.Ile314Phe)
18g.31536253T>ACA402141374DSG2c.1475T>A (p.Ile492Asn)
c.941T>A (p.Ile314Asn)
18g.31536253T>CCA402141375DSG2c.1475T>C (p.Ile492Thr)
c.941T>C (p.Ile314Thr)
 ClinVar dbSNP
18g.31536253T>GCA402141376DSG2c.1475T>G (p.Ile492Ser)
c.941T>G (p.Ile314Ser)
18g.31536253T=CA2293861936DSG2c.1475T= (p.Ile492=)
c.941T= (p.Ile314=)
18g.31536253_31536256delinsTCAACA2293861937DSG2c.1475_1478delinsTCAA (p.Ile492=)
c.941_944delinsTCAA (p.Ile314=)
18g.31536254C>ACA503600694DSG2c.1476C>A (p.Ile492=)
c.942C>A (p.Ile314=)
18g.31536254C=CA2293861939DSG2c.1476C= (p.Ile492=)
c.942C= (p.Ile314=)
18g.31536254C>GCA402141377DSG2c.1476C>G (p.Ile492Met)
c.942C>G (p.Ile314Met)
18g.31536254C>TCA503600693DSG2c.1476C>T (p.Ile492=)
c.942C>T (p.Ile314=)
 ClinVar dbSNP
18g.31536255_31536257delCA2293861938DSG2c.1477_1479del (p.Asn493del)
c.943_945del (p.Asn315del)
 ClinVar dbSNP
18g.31536255A>CCA402141379DSG2c.1477A>C (p.Asn493His)
c.943A>C (p.Asn315His)
18g.31536255A>GCA402141381DSG2c.1477A>G (p.Asn493Asp)
c.943A>G (p.Asn315Asp)
 ClinVar dbSNP gnomAD v4
18g.31536255A>TCA402141378DSG2c.1477A>T (p.Asn493Tyr)
c.943A>T (p.Asn315Tyr)
18g.31536256A=CA2293861940DSG2c.1478A= (p.Asn493=)
c.944A= (p.Asn315=)
18g.31536256A>CCA402141383DSG2c.1478A>C (p.Asn493Thr)
c.944A>C (p.Asn315Thr)
18g.31536256A>GCA021402DSG2c.1478A>G (p.Asn493Ser)
c.944A>G (p.Asn315Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536256A>TCA402141384DSG2c.1478A>T (p.Asn493Ile)
c.944A>T (p.Asn315Ile)
18g.31536258_31536260delCA2641406714DSG2c.1480_1482del (p.Asp494del)
c.946_948del (p.Asp316del)
 gnomAD v4
18g.31536257C>ACA402141385DSG2c.1479C>A (p.Asn493Lys)
c.945C>A (p.Asn315Lys)
18g.31536257C=CA2293861941DSG2c.1479C= (p.Asn493=)
c.945C= (p.Asn315=)
18g.31536257C>GCA402141387DSG2c.1479C>G (p.Asn493Lys)
c.945C>G (p.Asn315Lys)
18g.31536257C>TCA042568DSG2c.1479C>T (p.Asn493=)
c.945C>T (p.Asn315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536258G>ACA042615DSG2c.1480G>A (p.Asp494Asn)
c.946G>A (p.Asp316Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536258G>CCA402141391DSG2c.1480G>C (p.Asp494His)
c.946G>C (p.Asp316His)
18g.31536258G=CA2293861942DSG2c.1480G= (p.Asp494=)
c.946G= (p.Asp316=)
18g.31536258G>TCA402141392DSG2c.1480G>T (p.Asp494Tyr)
c.946G>T (p.Asp316Tyr)
18g.31536259A=CA2293861943DSG2c.1481A= (p.Asp494=)
c.947A= (p.Asp316=)
18g.31536259A>CCA021409DSG2c.1481A>C (p.Asp494Ala)
c.947A>C (p.Asp316Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536259A>GCA402141397DSG2c.1481A>G (p.Asp494Gly)
c.947A>G (p.Asp316Gly)
 COSMIC
18g.31536259A>TCA402141398DSG2c.1481A>T (p.Asp494Val)
c.947A>T (p.Asp316Val)
 dbSNP
18g.31536260C>ACA402141399DSG2c.1482C>A (p.Asp494Glu)
c.948C>A (p.Asp316Glu)
18g.31536260C>GCA402141401DSG2c.1482C>G (p.Asp494Glu)
c.948C>G (p.Asp316Glu)
 ClinVar
18g.31536260C>TCA503600695DSG2c.1482C>T (p.Asp494=)
c.948C>T (p.Asp316=)
18g.31536261A>CCA402141407DSG2c.1483A>C (p.Asn495His)
c.949A>C (p.Asn317His)
18g.31536261A>GCA402141404DSG2c.1483A>G (p.Asn495Asp)
c.949A>G (p.Asn317Asp)
18g.31536261A>TCA402141405DSG2c.1483A>T (p.Asn495Tyr)
c.949A>T (p.Asn317Tyr)
 ClinVar
18g.31536262A=CA2293861944DSG2c.1484A= (p.Asn495=)
c.950A= (p.Asn317=)
18g.31536262A>CCA402141408DSG2c.1484A>C (p.Asn495Thr)
c.950A>C (p.Asn317Thr)
18g.31536262A>GCA402141410DSG2c.1484A>G (p.Asn495Ser)
c.950A>G (p.Asn317Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31536262A>TCA402141411DSG2c.1484A>T (p.Asn495Ile)
c.950A>T (p.Asn317Ile)
18g.31536263C>ACA402141412DSG2c.1485C>A (p.Asn495Lys)
c.951C>A (p.Asn317Lys)
18g.31536263C>GCA402141415DSG2c.1485C>G (p.Asn495Lys)
c.951C>G (p.Asn317Lys)
18g.31536263C>TCA503600696DSG2c.1485C>T (p.Asn495=)
c.951C>T (p.Asn317=)
 gnomAD v4
18g.31536264T>ACA402141418DSG2c.1486T>A (p.Cys496Ser)
c.952T>A (p.Cys318Ser)
18g.31536264T>CCA402141420DSG2c.1486T>C (p.Cys496Arg)
c.952T>C (p.Cys318Arg)
18g.31536264T>GCA402141422DSG2c.1486T>G (p.Cys496Gly)
c.952T>G (p.Cys318Gly)
18g.31536264T=CA2293861945DSG2c.1486T= (p.Cys496=)
c.952T= (p.Cys318=)
18g.31536265G>ACA402141425DSG2c.1487G>A (p.Cys496Tyr)
c.953G>A (p.Cys318Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31536265G>CCA402141427DSG2c.1487G>C (p.Cys496Ser)
c.953G>C (p.Cys318Ser)
18g.31536265G=CA2293861946DSG2c.1487G= (p.Cys496=)
c.953G= (p.Cys318=)
18g.31536265G>TCA402141430DSG2c.1487G>T (p.Cys496Phe)
c.953G>T (p.Cys318Phe)
18g.31536265dupCA021416DSG2c.1487dup (p.Cys496TrpfsTer?)
c.953dup (p.Cys318TrpfsTer?)
 ClinVar dbSNP gnomAD v4
18g.31536266T>ACA402141432DSG2c.1488T>A (p.Cys496Ter)
c.954T>A (p.Cys318Ter)
18g.31536266T>CCA503600697DSG2c.1488T>C (p.Cys496=)
c.954T>C (p.Cys318=)
18g.31536266T>GCA402141438DSG2c.1488T>G (p.Cys496Trp)
c.954T>G (p.Cys318Trp)
18g.31536267C>ACA402141441DSG2c.1489C>A (p.Pro497Thr)
c.955C>A (p.Pro319Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.31536267C=CA2293861947DSG2c.1489C= (p.Pro497=)
c.955C= (p.Pro319=)
18g.31536267C>GCA402141444DSG2c.1489C>G (p.Pro497Ala)
c.955C>G (p.Pro319Ala)
 ClinVar gnomAD v4
18g.31536267C>TCA402141443DSG2c.1489C>T (p.Pro497Ser)
c.955C>T (p.Pro319Ser)
 COSMIC
18g.31536268C>ACA402141447DSG2c.1490C>A (p.Pro497His)
c.956C>A (p.Pro319His)
18g.31536268C>GCA402141448DSG2c.1490C>G (p.Pro497Arg)
c.956C>G (p.Pro319Arg)
 gnomAD v4 COSMIC
18g.31536268C>TCA402141451DSG2c.1490C>T (p.Pro497Leu)
c.956C>T (p.Pro319Leu)
18g.31536269C>ACA503600698DSG2c.1491C>A (p.Pro497=)
c.957C>A (p.Pro319=)
 gnomAD v4
18g.31536269C=CA2293861948DSG2c.1491C= (p.Pro497=)
c.957C= (p.Pro319=)
18g.31536269C>GCA503600699DSG2c.1491C>G (p.Pro497=)
c.957C>G (p.Pro319=)
18g.31536269C>TCA021428DSG2c.1491C>T (p.Pro497=)
c.957C>T (p.Pro319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536270delCA2576480445DSG2c.1492del (p.Thr498HisfsTer2)
c.958del (p.Thr320HisfsTer2)
18g.31536270A>CCA402141455DSG2c.1492A>C (p.Thr498Pro)
c.958A>C (p.Thr320Pro)
18g.31536270A>GCA402141457DSG2c.1492A>G (p.Thr498Ala)
c.958A>G (p.Thr320Ala)
18g.31536270A>TCA402141461DSG2c.1492A>T (p.Thr498Ser)
c.958A>T (p.Thr320Ser)
18g.31536271C>ACA402141464DSG2c.1493C>A (p.Thr498Lys)
c.959C>A (p.Thr320Lys)
18g.31536271C>GCA402141467DSG2c.1493C>G (p.Thr498Arg)
c.959C>G (p.Thr320Arg)
18g.31536271C>TCA402141469DSG2c.1493C>T (p.Thr498Ile)
c.959C>T (p.Thr320Ile)
 gnomAD v4
18g.31536272A>CCA503600700DSG2c.1494A>C (p.Thr498=)
c.960A>C (p.Thr320=)
 COSMIC
18g.31536272A>GCA503600701DSG2c.1494A>G (p.Thr498=)
c.960A>G (p.Thr320=)
18g.31536272A>TCA503600702DSG2c.1494A>T (p.Thr498=)
c.960A>T (p.Thr320=)
18g.31536273C>ACA042655DSG2c.1495C>A (p.Leu499Met)
c.961C>A (p.Leu321Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.31536273C=CA2293861949DSG2c.1495C= (p.Leu499=)
c.961C= (p.Leu321=)
18g.31536273C>GCA402141473DSG2c.1495C>G (p.Leu499Val)
c.961C>G (p.Leu321Val)
18g.31536273C>TCA503600703DSG2c.1495C>T (p.Leu499=)
c.961C>T (p.Leu321=)
18g.31536274T>ACA402141479DSG2c.1496T>A (p.Leu499Gln)
c.962T>A (p.Leu321Gln)
18g.31536274T>CCA402141476DSG2c.1496T>C (p.Leu499Pro)
c.962T>C (p.Leu321Pro)
 ClinVar
18g.31536274T>GCA402141475DSG2c.1496T>G (p.Leu499Arg)
c.962T>G (p.Leu321Arg)
18g.31536275G>ACA503600704DSG2c.1497G>A (p.Leu499=)
c.963G>A (p.Leu321=)
18g.31536275G>CCA503600706DSG2c.1497G>C (p.Leu499=)
c.963G>C (p.Leu321=)
18g.31536275G>TCA503600705DSG2c.1497G>T (p.Leu499=)
c.963G>T (p.Leu321=)
18g.31536276A>CCA402141482DSG2c.1498A>C (p.Ile500Leu)
c.964A>C (p.Ile322Leu)
18g.31536276A>GCA402141483DSG2c.1498A>G (p.Ile500Val)
c.964A>G (p.Ile322Val)
18g.31536276A>TCA402141485DSG2c.1498A>T (p.Ile500Leu)
c.964A>T (p.Ile322Leu)
18g.31536277T>ACA402141487DSG2c.1499T>A (p.Ile500Lys)
c.965T>A (p.Ile322Lys)
18g.31536277T>CCA402141489DSG2c.1499T>C (p.Ile500Thr)
c.965T>C (p.Ile322Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31536277T>GCA042665DSG2c.1499T>G (p.Ile500Arg)
c.965T>G (p.Ile322Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31536277T=CA2293861950DSG2c.1499T= (p.Ile500=)
c.965T= (p.Ile322=)
18g.31536278A>CCA503600707DSG2c.1500A>C (p.Ile500=)
c.966A>C (p.Ile322=)
18g.31536278A>GCA402141491DSG2c.1500A>G (p.Ile500Met)
c.966A>G (p.Ile322Met)
18g.31536278A>TCA503600708DSG2c.1500A>T (p.Ile500=)
c.966A>T (p.Ile322=)
18g.31536279G>ACA402141494DSG2c.1501G>A (p.Glu501Lys)
c.967G>A (p.Glu323Lys)
 dbSNP gnomAD v4
18g.31536279G>CCA402141497DSG2c.1501G>C (p.Glu501Gln)
c.967G>C (p.Glu323Gln)
 ClinVar dbSNP
18g.31536279G=CA2293861951DSG2c.1501G= (p.Glu501=)
c.967G= (p.Glu323=)
18g.31536279G>TCA402141498DSG2c.1501G>T (p.Glu501Ter)
c.967G>T (p.Glu323Ter)
18g.31536280A>CCA402141501DSG2c.1502A>C (p.Glu501Ala)
c.968A>C (p.Glu323Ala)
18g.31536280A>GCA402141503DSG2c.1502A>G (p.Glu501Gly)
c.968A>G (p.Glu323Gly)
 gnomAD v4
18g.31536280A>TCA402141504DSG2c.1502A>T (p.Glu501Val)
c.968A>T (p.Glu323Val)
18g.31536281G>ACA503600709DSG2c.1503G>A (p.Glu501=)
c.969G>A (p.Glu323=)
 gnomAD v4
18g.31536281G>CCA402141507DSG2c.1503G>C (p.Glu501Asp)
c.969G>C (p.Glu323Asp)
18g.31536281G=CA2293861952DSG2c.1503G= (p.Glu501=)
c.969G= (p.Glu323=)
18g.31536281G>TCA402141509DSG2c.1503G>T (p.Glu501Asp)
c.969G>T (p.Glu323Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31536282C>ACA402141512DSG2c.1504C>A (p.Pro502Thr)
c.970C>A (p.Pro324Thr)
18g.31536282C=CA2293861953DSG2c.1504C= (p.Pro502=)
c.970C= (p.Pro324=)
18g.31536282C>GCA402141515DSG2c.1504C>G (p.Pro502Ala)
c.970C>G (p.Pro324Ala)
18g.31536282C>TCA042687DSG2c.1504C>T (p.Pro502Ser)
c.970C>T (p.Pro324Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31536283C>ACA402141518DSG2c.1505C>A (p.Pro502His)
c.971C>A (p.Pro324His)
18g.31536283C>GCA402141520DSG2c.1505C>G (p.Pro502Arg)
c.971C>G (p.Pro324Arg)
18g.31536283C>TCA402141519DSG2c.1505C>T (p.Pro502Leu)
c.971C>T (p.Pro324Leu)
18g.31536284T>ACA503600710DSG2c.1506T>A (p.Pro502=)
c.972T>A (p.Pro324=)
18g.31536284T>CCA503600711DSG2c.1506T>C (p.Pro502=)
c.972T>C (p.Pro324=)
18g.31536284T>GCA503600712DSG2c.1506T>G (p.Pro502=)
c.972T>G (p.Pro324=)
 dbSNP
18g.31536284T=CA2293861954DSG2c.1506T= (p.Pro502=)
c.972T= (p.Pro324=)

Number of alleles fetched