Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.153870853C>ACA10554544L1CAMc.631G>T (p.Ala211Ser)
c.616G>T (p.Ala206Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
Xg.153870853C=CA2466507305L1CAMc.631G= (p.Ala211=)
c.616G= (p.Ala206=)
Xg.153870853C>GCA415135232L1CAMc.631G>C (p.Ala211Pro)
c.616G>C (p.Ala206Pro)
Xg.153870853C>TCA337263738L1CAMc.631G>A (p.Ala211Thr)
c.616G>A (p.Ala206Thr)
 ClinVar dbSNP gnomAD v4
Xg.153870854G>ACA220733L1CAMc.630C>T (p.His210=)
c.615C>T (p.His205=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870854G>CCA337263752L1CAMc.630C>G (p.His210Gln)
c.615C>G (p.His205Gln)
 dbSNP
Xg.153870854G=CA2466507306L1CAMc.630C= (p.His210=)
c.615C= (p.His205=)
Xg.153870854G>TCA254955L1CAMc.630C>A (p.His210Gln)
c.615C>A (p.His205Gln)
 ClinVar dbSNP
Xg.153870855T>ACA415135237L1CAMc.629A>T (p.His210Leu)
c.614A>T (p.His205Leu)
Xg.153870855T>CCA415135238L1CAMc.629A>G (p.His210Arg)
c.614A>G (p.His205Arg)
Xg.153870855T>GCA415135239L1CAMc.629A>C (p.His210Pro)
c.614A>C (p.His205Pro)
Xg.153870856G>ACA415135240L1CAMc.628C>T (p.His210Tyr)
c.613C>T (p.His205Tyr)
Xg.153870856G>CCA415135243L1CAMc.628C>G (p.His210Asp)
c.613C>G (p.His205Asp)
Xg.153870856G>TCA415135245L1CAMc.628C>A (p.His210Asn)
c.613C>A (p.His205Asn)
Xg.153870857G>ACA519344227L1CAMc.627C>T (p.Cys209=)
c.612C>T (p.Cys204=)
Xg.153870857G>CCA415135258L1CAMc.627C>G (p.Cys209Trp)
c.612C>G (p.Cys204Trp)
Xg.153870857G>TCA415135248L1CAMc.627C>A (p.Cys209Ter)
c.612C>A (p.Cys204Ter)
Xg.153870858C>ACA415135261L1CAMc.626G>T (p.Cys209Phe)
c.611G>T (p.Cys204Phe)
Xg.153870858C>GCA415135264L1CAMc.626G>C (p.Cys209Ser)
c.611G>C (p.Cys204Ser)
Xg.153870858C>TCA415135271L1CAMc.626G>A (p.Cys209Tyr)
c.611G>A (p.Cys204Tyr)
Xg.153870859A>CCA415135273L1CAMc.625T>G (p.Cys209Gly)
c.610T>G (p.Cys204Gly)
Xg.153870859A>GCA415135278L1CAMc.625T>C (p.Cys209Arg)
c.610T>C (p.Cys204Arg)
Xg.153870859A>TCA415135283L1CAMc.625T>A (p.Cys209Ser)
c.610T>A (p.Cys204Ser)
Xg.153870860G>ACA519344232L1CAMc.624C>T (p.Ile208=)
c.609C>T (p.Ile203=)
Xg.153870860G>CCA415135286L1CAMc.624C>G (p.Ile208Met)
c.609C>G (p.Ile203Met)
Xg.153870860G>TCA519344233L1CAMc.624C>A (p.Ile208=)
c.609C>A (p.Ile203=)
Xg.153870861A>CCA415135292L1CAMc.623T>G (p.Ile208Ser)
c.608T>G (p.Ile203Ser)
Xg.153870861A>GCA415135294L1CAMc.623T>C (p.Ile208Thr)
c.608T>C (p.Ile203Thr)
Xg.153870861A>TCA415135298L1CAMc.623T>A (p.Ile208Asn)
c.608T>A (p.Ile203Asn)
Xg.153870862T>ACA415135301L1CAMc.622A>T (p.Ile208Phe)
c.607A>T (p.Ile203Phe)
Xg.153870862T>CCA415135302L1CAMc.622A>G (p.Ile208Val)
c.607A>G (p.Ile203Val)
Xg.153870862T>GCA415135306L1CAMc.622A>C (p.Ile208Leu)
c.607A>C (p.Ile203Leu)
Xg.153870863G>ACA519344238L1CAMc.621C>T (p.Tyr207=)
c.606C>T (p.Tyr202=)
 gnomAD v4
Xg.153870863G>CCA415135318L1CAMc.621C>G (p.Tyr207Ter)
c.606C>G (p.Tyr202Ter)
Xg.153870863G>TCA415135319L1CAMc.621C>A (p.Tyr207Ter)
c.606C>A (p.Tyr202Ter)
Xg.153870864T>ACA415135323L1CAMc.620A>T (p.Tyr207Phe)
c.605A>T (p.Tyr202Phe)
Xg.153870864T>CCA415135335L1CAMc.620A>G (p.Tyr207Cys)
c.605A>G (p.Tyr202Cys)
 gnomAD v4
Xg.153870864T>GCA415135332L1CAMc.620A>C (p.Tyr207Ser)
c.605A>C (p.Tyr202Ser)
Xg.153870865delCA2579733054L1CAMc.619del (p.Tyr207ThrfsTer29)
c.604del (p.Tyr202ThrfsTer29)
Xg.153870865A>CCA415135339L1CAMc.619T>G (p.Tyr207Asp)
c.604T>G (p.Tyr202Asp)
Xg.153870865A>GCA415135340L1CAMc.619T>C (p.Tyr207His)
c.604T>C (p.Tyr202His)
Xg.153870865A>TCA415135344L1CAMc.619T>A (p.Tyr207Asn)
c.604T>A (p.Tyr202Asn)
Xg.153870866G>ACA519344242L1CAMc.618C>T (p.Asp206=)
c.603C>T (p.Asp201=)
Xg.153870866G>CCA415135346L1CAMc.618C>G (p.Asp206Glu)
c.603C>G (p.Asp201Glu)
Xg.153870866G=CA2466507307L1CAMc.618C= (p.Asp206=)
c.603C= (p.Asp201=)
Xg.153870866G>TCA209390L1CAMc.618C>A (p.Asp206Glu)
c.603C>A (p.Asp201Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870867T>ACA415135362L1CAMc.617A>T (p.Asp206Val)
c.602A>T (p.Asp201Val)
Xg.153870867T>CCA415135359L1CAMc.617A>G (p.Asp206Gly)
c.602A>G (p.Asp201Gly)
Xg.153870867T>GCA415135354L1CAMc.617A>C (p.Asp206Ala)
c.602A>C (p.Asp201Ala)
Xg.153870868delCA2573159354L1CAMc.616del (p.Asp206ThrfsTer30)
c.601del (p.Asp201ThrfsTer30)
 ClinVar dbSNP
Xg.153870868C>ACA415135364L1CAMc.616G>T (p.Asp206Tyr)
c.601G>T (p.Asp201Tyr)
Xg.153870868C>GCA415135367L1CAMc.616G>C (p.Asp206His)
c.601G>C (p.Asp201His)
 COSMIC
Xg.153870868C>TCA415135371L1CAMc.616G>A (p.Asp206Asn)
c.601G>A (p.Asp201Asn)
Xg.153870869T>ACA519344247L1CAMc.615A>T (p.Ser205=)
c.600A>T (p.Ser200=)
Xg.153870869T>CCA519344248L1CAMc.615A>G (p.Ser205=)
c.600A>G (p.Ser200=)
Xg.153870869T>GCA519344249L1CAMc.615A>C (p.Ser205=)
c.600A>C (p.Ser200=)
Xg.153870869_153870870delinsCTCA2695236885L1CAMc.614_615delinsAG (p.Ser205Ter)
c.599_600delinsAG (p.Ser200Ter)
Xg.153870870G>ACA415135373L1CAMc.614C>T (p.Ser205Leu)
c.599C>T (p.Ser200Leu)
Xg.153870870G>CCA415135380L1CAMc.614C>G (p.Ser205Ter)
c.599C>G (p.Ser200Ter)
 COSMIC
Xg.153870870G>TCA415135383L1CAMc.614C>A (p.Ser205Ter)
c.599C>A (p.Ser200Ter)
Xg.153870871A>CCA415135385L1CAMc.613T>G (p.Ser205Ala)
c.598T>G (p.Ser200Ala)
Xg.153870871A>GCA415135389L1CAMc.613T>C (p.Ser205Pro)
c.598T>C (p.Ser200Pro)
Xg.153870871A>TCA415135387L1CAMc.613T>A (p.Ser205Thr)
c.598T>A (p.Ser200Thr)
Xg.153870872G>ACA519344251L1CAMc.612C>T (p.His204=)
c.597C>T (p.His199=)
Xg.153870872G>CCA415135391L1CAMc.612C>G (p.His204Gln)
c.597C>G (p.His199Gln)
Xg.153870872G>TCA415135392L1CAMc.612C>A (p.His204Gln)
c.597C>A (p.His199Gln)
Xg.153870873T>ACA415135395L1CAMc.611A>T (p.His204Leu)
c.596A>T (p.His199Leu)
Xg.153870873T>CCA415135397L1CAMc.611A>G (p.His204Arg)
c.596A>G (p.His199Arg)
Xg.153870873T>GCA415135398L1CAMc.611A>C (p.His204Pro)
c.596A>C (p.His199Pro)
Xg.153870874G>ACA415135400L1CAMc.610C>T (p.His204Tyr)
c.595C>T (p.His199Tyr)
Xg.153870874G>CCA415135401L1CAMc.610C>G (p.His204Asp)
c.595C>G (p.His199Asp)
Xg.153870874G>TCA415135402L1CAMc.610C>A (p.His204Asn)
c.595C>A (p.His199Asn)
Xg.153870875delCA2579733055L1CAMc.610del (p.His204ThrfsTer?)
c.595del (p.His199ThrfsTer?)
Xg.153870875G>ACA519344255L1CAMc.609C>T (p.Asn203=)
c.594C>T (p.Asn198=)
Xg.153870875G>CCA415135404L1CAMc.609C>G (p.Asn203Lys)
c.594C>G (p.Asn198Lys)
Xg.153870875G>TCA415135405L1CAMc.609C>A (p.Asn203Lys)
c.594C>A (p.Asn198Lys)
Xg.153870876T>ACA415135411L1CAMc.608A>T (p.Asn203Ile)
c.593A>T (p.Asn198Ile)
Xg.153870876T>CCA415135407L1CAMc.608A>G (p.Asn203Ser)
c.593A>G (p.Asn198Ser)
Xg.153870876T>GCA415135409L1CAMc.608A>C (p.Asn203Thr)
c.593A>C (p.Asn198Thr)
Xg.153870877T>ACA415135414L1CAMc.607A>T (p.Asn203Tyr)
c.592A>T (p.Asn198Tyr)
Xg.153870877T>CCA415135415L1CAMc.607A>G (p.Asn203Asp)
c.592A>G (p.Asn198Asp)
 gnomAD v4
Xg.153870877T>GCA415135416L1CAMc.607A>C (p.Asn203His)
c.592A>C (p.Asn198His)
Xg.153870878G>ACA519344259L1CAMc.606C>T (p.Asp202=)
c.591C>T (p.Asp197=)
Xg.153870878G>CCA415135417L1CAMc.606C>G (p.Asp202Glu)
c.591C>G (p.Asp197Glu)
Xg.153870878G>TCA415135418L1CAMc.606C>A (p.Asp202Glu)
c.591C>A (p.Asp197Glu)
Xg.153870879T>ACA415135421L1CAMc.605A>T (p.Asp202Val)
c.590A>T (p.Asp197Val)
Xg.153870879T>CCA415135427L1CAMc.605A>G (p.Asp202Gly)
c.590A>G (p.Asp197Gly)
Xg.153870879T>GCA415135430L1CAMc.605A>C (p.Asp202Ala)
c.590A>C (p.Asp197Ala)
Xg.153870880C>ACA16616745L1CAMc.604G>T (p.Asp202Tyr)
c.589G>T (p.Asp197Tyr)
Xg.153870880C=CA2466507308L1CAMc.604G= (p.Asp202=)
c.589G= (p.Asp197=)
Xg.153870880C>GCA415135432L1CAMc.604G>C (p.Asp202His)
c.589G>C (p.Asp197His)
Xg.153870880C>TCA415135433L1CAMc.604G>A (p.Asp202Asn)
c.589G>A (p.Asp197Asn)
 ClinVar dbSNP
Xg.153870881G>ACA246572L1CAMc.603C>T (p.Ser201=)
c.588C>T (p.Ser196=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153870881G>CCA337263757L1CAMc.603C>G (p.Ser201=)
c.588C>G (p.Ser196=)
 ClinVar dbSNP gnomAD v4
Xg.153870881G=CA2466507309L1CAMc.603C= (p.Ser201=)
c.588C= (p.Ser196=)
Xg.153870881G>TCA519344263L1CAMc.603C>A (p.Ser201=)
c.588C>A (p.Ser196=)
Xg.153870882G>ACA415135437L1CAMc.602C>T (p.Ser201Phe)
c.587C>T (p.Ser196Phe)
Xg.153870882G>CCA415135441L1CAMc.602C>G (p.Ser201Cys)
c.587C>G (p.Ser196Cys)
Xg.153870882G>TCA415135440L1CAMc.602C>A (p.Ser201Tyr)
c.587C>A (p.Ser196Tyr)
Xg.153870883A>CCA415135444L1CAMc.601T>G (p.Ser201Ala)
c.586T>G (p.Ser196Ala)
Xg.153870883A>GCA415135451L1CAMc.601T>C (p.Ser201Pro)
c.586T>C (p.Ser196Pro)
Xg.153870883A>TCA415135453L1CAMc.601T>A (p.Ser201Thr)
c.586T>A (p.Ser196Thr)
Xg.153870884G>ACA10554545L1CAMc.600C>T (p.Thr200=)
c.585C>T (p.Thr195=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870884G>CCA519344267L1CAMc.600C>G (p.Thr200=)
c.585C>G (p.Thr195=)
Xg.153870884G=CA2466507310L1CAMc.600C= (p.Thr200=)
c.585C= (p.Thr195=)
Xg.153870884G>TCA519344266L1CAMc.600C>A (p.Thr200=)
c.585C>A (p.Thr195=)
Xg.153870885G>ACA415135459L1CAMc.599C>T (p.Thr200Ile)
c.584C>T (p.Thr195Ile)
 gnomAD v4
Xg.153870885G>CCA415135461L1CAMc.599C>G (p.Thr200Ser)
c.584C>G (p.Thr195Ser)
Xg.153870885G>TCA415135465L1CAMc.599C>A (p.Thr200Asn)
c.584C>A (p.Thr195Asn)
Xg.153870886T>ACA415135470L1CAMc.598A>T (p.Thr200Ser)
c.583A>T (p.Thr195Ser)
Xg.153870886T>CCA415135473L1CAMc.598A>G (p.Thr200Ala)
c.583A>G (p.Thr195Ala)
Xg.153870886T>GCA415135476L1CAMc.598A>C (p.Thr200Pro)
c.583A>C (p.Thr195Pro)
Xg.153870887G>ACA519344271L1CAMc.597C>T (p.Leu199=)
c.582C>T (p.Leu194=)
 COSMIC
Xg.153870887G>CCA519344272L1CAMc.597C>G (p.Leu199=)
c.582C>G (p.Leu194=)
Xg.153870887G>TCA519344273L1CAMc.597C>A (p.Leu199=)
c.582C>A (p.Leu194=)
Xg.153870888A>CCA415135477L1CAMc.596T>G (p.Leu199Arg)
c.581T>G (p.Leu194Arg)
Xg.153870888A>GCA415135479L1CAMc.596T>C (p.Leu199Pro)
c.581T>C (p.Leu194Pro)
Xg.153870888A>TCA415135478L1CAMc.596T>A (p.Leu199His)
c.581T>A (p.Leu194His)
Xg.153870889G>ACA415135480L1CAMc.595C>T (p.Leu199Phe)
c.580C>T (p.Leu194Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870889G>CCA415135484L1CAMc.595C>G (p.Leu199Val)
c.580C>G (p.Leu194Val)
Xg.153870889G=CA2466507311L1CAMc.595C= (p.Leu199=)
c.580C= (p.Leu194=)
Xg.153870889G>TCA415135482L1CAMc.595C>A (p.Leu199Ile)
c.580C>A (p.Leu194Ile)
Xg.153870892_153870899delCA2695236887L1CAMc.588_595del (p.Asn197HisfsTer27)
c.573_580del (p.Asn192HisfsTer27)
Xg.153870890C>ACA519344275L1CAMc.594G>T (p.Val198=)
c.579G>T (p.Val193=)
Xg.153870890C>GCA519344276L1CAMc.594G>C (p.Val198=)
c.579G>C (p.Val193=)
Xg.153870890C>TCA519344277L1CAMc.594G>A (p.Val198=)
c.579G>A (p.Val193=)
Xg.153870891A=CA2466507312L1CAMc.593T= (p.Val198=)
c.578T= (p.Val193=)
Xg.153870891A>CCA415135489L1CAMc.593T>G (p.Val198Gly)
c.578T>G (p.Val193Gly)
Xg.153870891A>GCA337263759L1CAMc.593T>C (p.Val198Ala)
c.578T>C (p.Val193Ala)
 dbSNP gnomAD v4
Xg.153870891A>TCA415135494L1CAMc.593T>A (p.Val198Glu)
c.578T>A (p.Val193Glu)
Xg.153870892C>ACA415135501L1CAMc.592G>T (p.Val198Leu)
c.577G>T (p.Val193Leu)
Xg.153870892C>GCA415135506L1CAMc.592G>C (p.Val198Leu)
c.577G>C (p.Val193Leu)
Xg.153870892C>TCA415135509L1CAMc.592G>A (p.Val198Met)
c.577G>A (p.Val193Met)
Xg.153870893A=CA2466507313L1CAMc.591T= (p.Asn197=)
c.576T= (p.Asn192=)
Xg.153870893A>CCA415135511L1CAMc.591T>G (p.Asn197Lys)
c.576T>G (p.Asn192Lys)
Xg.153870893A>GCA246570L1CAMc.591T>C (p.Asn197=)
c.576T>C (p.Asn192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870893A>TCA415135517L1CAMc.591T>A (p.Asn197Lys)
c.576T>A (p.Asn192Lys)
Xg.153870894T>ACA415135544L1CAMc.590A>T (p.Asn197Ile)
c.575A>T (p.Asn192Ile)
Xg.153870894T>CCA415135540L1CAMc.590A>G (p.Asn197Ser)
c.575A>G (p.Asn192Ser)
 gnomAD v4
Xg.153870894T>GCA415135521L1CAMc.590A>C (p.Asn197Thr)
c.575A>C (p.Asn192Thr)
Xg.153870895T>ACA415135556L1CAMc.589A>T (p.Asn197Tyr)
c.574A>T (p.Asn192Tyr)
Xg.153870895T>CCA415135559L1CAMc.589A>G (p.Asn197Asp)
c.574A>G (p.Asn192Asp)
Xg.153870895T>GCA415135561L1CAMc.589A>C (p.Asn197His)
c.574A>C (p.Asn192His)
Xg.153870896G>ACA10554546L1CAMc.588C>T (p.Ala196=)
c.573C>T (p.Ala191=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870896G>CCA519344278L1CAMc.588C>G (p.Ala196=)
c.573C>G (p.Ala191=)
Xg.153870896G=CA2466507314L1CAMc.588C= (p.Ala196=)
c.573C= (p.Ala191=)
Xg.153870896G>TCA519344279L1CAMc.588C>A (p.Ala196=)
c.573C>A (p.Ala191=)
Xg.153870897G>ACA415135565L1CAMc.587C>T (p.Ala196Val)
c.572C>T (p.Ala191Val)
 gnomAD v4
Xg.153870897G>CCA415135567L1CAMc.587C>G (p.Ala196Gly)
c.572C>G (p.Ala191Gly)
Xg.153870897G>TCA415135569L1CAMc.587C>A (p.Ala196Asp)
c.572C>A (p.Ala191Asp)
Xg.153870898C>ACA415135575L1CAMc.586G>T (p.Ala196Ser)
c.571G>T (p.Ala191Ser)
Xg.153870898C>GCA415135576L1CAMc.586G>C (p.Ala196Pro)
c.571G>C (p.Ala191Pro)
Xg.153870898C>TCA415135579L1CAMc.586G>A (p.Ala196Thr)
c.571G>A (p.Ala191Thr)
Xg.153870899A>CCA415135585L1CAMc.585T>G (p.Phe195Leu)
c.570T>G (p.Phe190Leu)
Xg.153870899A>GCA519344280L1CAMc.585T>C (p.Phe195=)
c.570T>C (p.Phe190=)
 ClinVar gnomAD v4
Xg.153870899A>TCA415135581L1CAMc.585T>A (p.Phe195Leu)
c.570T>A (p.Phe190Leu)
Xg.153870900A>CCA415135592L1CAMc.584T>G (p.Phe195Cys)
c.569T>G (p.Phe190Cys)
Xg.153870900A>GCA415135595L1CAMc.584T>C (p.Phe195Ser)
c.569T>C (p.Phe190Ser)
Xg.153870900A>TCA415135601L1CAMc.584T>A (p.Phe195Tyr)
c.569T>A (p.Phe190Tyr)
Xg.153870901A>CCA415135605L1CAMc.583T>G (p.Phe195Val)
c.568T>G (p.Phe190Val)
Xg.153870901A>GCA415135608L1CAMc.583T>C (p.Phe195Leu)
c.568T>C (p.Phe190Leu)
Xg.153870901A>TCA415135612L1CAMc.583T>A (p.Phe195Ile)
c.568T>A (p.Phe190Ile)
Xg.153870902G>ACA519344281L1CAMc.582C>T (p.Tyr194=)
c.567C>T (p.Tyr189=)
Xg.153870902G>CCA415135613L1CAMc.582C>G (p.Tyr194Ter)
c.567C>G (p.Tyr189Ter)
Xg.153870902G>TCA415135614L1CAMc.582C>A (p.Tyr194Ter)
c.567C>A (p.Tyr189Ter)
Xg.153870903_153870911dupCA2573130267L1CAMc.574_582dup (p.Tyr194_Phe195insAsnLeuTyr)
c.559_567dup (p.Tyr189_Phe190insAsnLeuTyr)
 ClinVar dbSNP
Xg.153870903T>ACA415135616L1CAMc.581A>T (p.Tyr194Phe)
c.566A>T (p.Tyr189Phe)
Xg.153870903T>CCA415135619L1CAMc.581A>G (p.Tyr194Cys)
c.566A>G (p.Tyr189Cys)
Xg.153870903T>GCA415135621L1CAMc.581A>C (p.Tyr194Ser)
c.566A>C (p.Tyr189Ser)
Xg.153870904A>CCA415135631L1CAMc.580T>G (p.Tyr194Asp)
c.565T>G (p.Tyr189Asp)
Xg.153870904A>GCA415135628L1CAMc.580T>C (p.Tyr194His)
c.565T>C (p.Tyr189His)
Xg.153870904A>TCA415135627L1CAMc.580T>A (p.Tyr194Asn)
c.565T>A (p.Tyr189Asn)
Xg.153870905G>ACA10554547L1CAMc.579C>T (p.Leu193=)
c.564C>T (p.Leu188=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870905G>CCA519344283L1CAMc.579C>G (p.Leu193=)
c.564C>G (p.Leu188=)
Xg.153870905G=CA2466507315L1CAMc.579C= (p.Leu193=)
c.564C= (p.Leu188=)
Xg.153870905G>TCA519344282L1CAMc.579C>A (p.Leu193=)
c.564C>A (p.Leu188=)
Xg.153870906A>CCA415135634L1CAMc.578T>G (p.Leu193Arg)
c.563T>G (p.Leu188Arg)
Xg.153870906A>GCA415135648L1CAMc.578T>C (p.Leu193Pro)
c.563T>C (p.Leu188Pro)
Xg.153870906A>TCA415135651L1CAMc.578T>A (p.Leu193His)
c.563T>A (p.Leu188His)
Xg.153870907G>ACA415135657L1CAMc.577C>T (p.Leu193Phe)
c.562C>T (p.Leu188Phe)
Xg.153870907G>CCA415135659L1CAMc.577C>G (p.Leu193Val)
c.562C>G (p.Leu188Val)
 gnomAD v4
Xg.153870907G>TCA415135662L1CAMc.577C>A (p.Leu193Ile)
c.562C>A (p.Leu188Ile)
Xg.153870908G>ACA519344284L1CAMc.576C>T (p.Asn192=)
c.561C>T (p.Asn187=)
 gnomAD v4
Xg.153870908G>CCA415135666L1CAMc.576C>G (p.Asn192Lys)
c.561C>G (p.Asn187Lys)
Xg.153870908G>TCA415135670L1CAMc.576C>A (p.Asn192Lys)
c.561C>A (p.Asn187Lys)
Xg.153870909T>ACA415135675L1CAMc.575A>T (p.Asn192Ile)
c.560A>T (p.Asn187Ile)
Xg.153870909T>CCA415135688L1CAMc.575A>G (p.Asn192Ser)
c.560A>G (p.Asn187Ser)
Xg.153870909T>GCA415135691L1CAMc.575A>C (p.Asn192Thr)
c.560A>C (p.Asn187Thr)
Xg.153870910T>ACA415135696L1CAMc.574A>T (p.Asn192Tyr)
c.559A>T (p.Asn187Tyr)
Xg.153870910T>CCA415135700L1CAMc.574A>G (p.Asn192Asp)
c.559A>G (p.Asn187Asp)
Xg.153870910T>GCA415135693L1CAMc.574A>C (p.Asn192His)
c.559A>C (p.Asn187His)
Xg.153870911G>ACA519344285L1CAMc.573C>T (p.Gly191=)
c.558C>T (p.Gly186=)
Xg.153870911G>CCA519344286L1CAMc.573C>G (p.Gly191=)
c.558C>G (p.Gly186=)
Xg.153870911G>TCA519344287L1CAMc.573C>A (p.Gly191=)
c.558C>A (p.Gly186=)
Xg.153870912C>ACA415135712L1CAMc.572G>T (p.Gly191Val)
c.557G>T (p.Gly186Val)
Xg.153870912C=CA2466507316L1CAMc.572G= (p.Gly191=)
c.557G= (p.Gly186=)
Xg.153870912C>GCA415135707L1CAMc.572G>C (p.Gly191Ala)
c.557G>C (p.Gly186Ala)
Xg.153870912C>TCA415135709L1CAMc.572G>A (p.Gly191Asp)
c.557G>A (p.Gly186Asp)
 dbSNP COSMIC
Xg.153870913C>ACA415135716L1CAMc.571G>T (p.Gly191Cys)
c.556G>T (p.Gly186Cys)
Xg.153870913C>GCA415135717L1CAMc.571G>C (p.Gly191Arg)
c.556G>C (p.Gly186Arg)
Xg.153870913C>TCA415135718L1CAMc.571G>A (p.Gly191Ser)
c.556G>A (p.Gly186Ser)
 gnomAD v3 gnomAD v4
Xg.153870914G>ACA10554548L1CAMc.570C>T (p.Asn190=)
c.555C>T (p.Asn185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870914G>CCA415135722L1CAMc.570C>G (p.Asn190Lys)
c.555C>G (p.Asn185Lys)
 gnomAD v4
Xg.153870914G=CA2466507317L1CAMc.570C= (p.Asn190=)
c.555C= (p.Asn185=)
Xg.153870914G>TCA415135733L1CAMc.570C>A (p.Asn190Lys)
c.555C>A (p.Asn185Lys)
Xg.153870915T>ACA415135737L1CAMc.569A>T (p.Asn190Ile)
c.554A>T (p.Asn185Ile)
Xg.153870915T>CCA415135743L1CAMc.569A>G (p.Asn190Ser)
c.554A>G (p.Asn185Ser)
Xg.153870915T>GCA415135746L1CAMc.569A>C (p.Asn190Thr)
c.554A>C (p.Asn185Thr)
Xg.153870916T>ACA415135749L1CAMc.568A>T (p.Asn190Tyr)
c.553A>T (p.Asn185Tyr)
Xg.153870916T>CCA415135751L1CAMc.568A>G (p.Asn190Asp)
c.553A>G (p.Asn185Asp)
 gnomAD v4
Xg.153870916T>GCA415135754L1CAMc.568A>C (p.Asn190His)
c.553A>C (p.Asn185His)
Xg.153870917C>ACA415135755L1CAMc.567G>T (p.Gln189His)
c.552G>T (p.Gln184His)
Xg.153870917C>GCA415135756L1CAMc.567G>C (p.Gln189His)
c.552G>C (p.Gln184His)
 COSMIC
Xg.153870917C>TCA519344288L1CAMc.567G>A (p.Gln189=)
c.552G>A (p.Gln184=)
Xg.153870918T>ACA415135757L1CAMc.566A>T (p.Gln189Leu)
c.551A>T (p.Gln184Leu)
Xg.153870918T>CCA415135758L1CAMc.566A>G (p.Gln189Arg)
c.551A>G (p.Gln184Arg)
 dbSNP gnomAD v2
Xg.153870918T>GCA415135760L1CAMc.566A>C (p.Gln189Pro)
c.551A>C (p.Gln184Pro)
Xg.153870918T=CA2466507318L1CAMc.566A= (p.Gln189=)
c.551A= (p.Gln184=)
Xg.153870919G>ACA415135761L1CAMc.565C>T (p.Gln189Ter)
c.550C>T (p.Gln184Ter)
 ClinVar gnomAD v4
Xg.153870919G>CCA415135764L1CAMc.565C>G (p.Gln189Glu)
c.550C>G (p.Gln184Glu)
Xg.153870919G>TCA415135769L1CAMc.565C>A (p.Gln189Lys)
c.550C>A (p.Gln184Lys)
Xg.153870920G>ACA519344289L1CAMc.564C>T (p.Gly188=)
c.549C>T (p.Gly183=)
Xg.153870920G>CCA519344290L1CAMc.564C>G (p.Gly188=)
c.549C>G (p.Gly183=)
Xg.153870920G>TCA519344291L1CAMc.564C>A (p.Gly188=)
c.549C>A (p.Gly183=)
Xg.153870921C>ACA415135771L1CAMc.563G>T (p.Gly188Val)
c.548G>T (p.Gly183Val)
Xg.153870921C>GCA415135774L1CAMc.563G>C (p.Gly188Ala)
c.548G>C (p.Gly183Ala)
Xg.153870921C>TCA415135778L1CAMc.563G>A (p.Gly188Asp)
c.548G>A (p.Gly183Asp)
 gnomAD v4
Xg.153870922C>ACA415135784L1CAMc.562G>T (p.Gly188Cys)
c.547G>T (p.Gly183Cys)
Xg.153870922C=CA2466507319L1CAMc.562G= (p.Gly188=)
c.547G= (p.Gly183=)
Xg.153870922C>GCA415135788L1CAMc.562G>C (p.Gly188Arg)
c.547G>C (p.Gly183Arg)
Xg.153870922C>TCA415135792L1CAMc.562G>A (p.Gly188Ser)
c.547G>A (p.Gly183Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870923C>ACA415135798L1CAMc.561G>T (p.Met187Ile)
c.546G>T (p.Met182Ile)
 COSMIC
Xg.153870923C=CA2466507320L1CAMc.561G= (p.Met187=)
c.546G= (p.Met182=)
Xg.153870923C>GCA10554549L1CAMc.561G>C (p.Met187Ile)
c.546G>C (p.Met182Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870923C>TCA415135805L1CAMc.561G>A (p.Met187Ile)
c.546G>A (p.Met182Ile)
Xg.153870924A>CCA415135808L1CAMc.560T>G (p.Met187Arg)
c.545T>G (p.Met182Arg)
Xg.153870924A>GCA415135810L1CAMc.560T>C (p.Met187Thr)
c.545T>C (p.Met182Thr)
Xg.153870924A>TCA415135813L1CAMc.560T>A (p.Met187Lys)
c.545T>A (p.Met182Lys)
Xg.153870925T>ACA415135815L1CAMc.559A>T (p.Met187Leu)
c.544A>T (p.Met182Leu)
Xg.153870925T>CCA415135818L1CAMc.559A>G (p.Met187Val)
c.544A>G (p.Met182Val)
Xg.153870925T>GCA415135825L1CAMc.559A>C (p.Met187Leu)
c.544A>C (p.Met182Leu)
Xg.153870926C>ACA10554551L1CAMc.558G>T (p.Thr186=)
c.543G>T (p.Thr181=)
 dbSNP ExAC gnomAD v2 COSMIC
Xg.153870926C=CA2466507321L1CAMc.558G= (p.Thr186=)
c.543G= (p.Thr181=)
Xg.153870926C>GCA519344292L1CAMc.558G>C (p.Thr186=)
c.543G>C (p.Thr181=)
 ClinVar dbSNP gnomAD v4
Xg.153870926C>TCA10554550L1CAMc.558G>A (p.Thr186=)
c.543G>A (p.Thr181=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870927G>ACA10554552L1CAMc.557C>T (p.Thr186Met)
c.542C>T (p.Thr181Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.153870927G>CCA415135837L1CAMc.557C>G (p.Thr186Arg)
c.542C>G (p.Thr181Arg)
Xg.153870927G=CA2466507322L1CAMc.557C= (p.Thr186=)
c.542C= (p.Thr181=)
Xg.153870927G>TCA415135839L1CAMc.557C>A (p.Thr186Lys)
c.542C>A (p.Thr181Lys)
Xg.153870928T>ACA415135849L1CAMc.556A>T (p.Thr186Ser)
c.541A>T (p.Thr181Ser)
Xg.153870928T>CCA415135843L1CAMc.556A>G (p.Thr186Ala)
c.541A>G (p.Thr181Ala)
Xg.153870928T>GCA415135846L1CAMc.556A>C (p.Thr186Pro)
c.541A>C (p.Thr181Pro)
Xg.153870929C>ACA519344293L1CAMc.555G>T (p.Val185=)
c.540G>T (p.Val180=)
Xg.153870929C>GCA519344294L1CAMc.555G>C (p.Val185=)
c.540G>C (p.Val180=)
Xg.153870929C>TCA519344295L1CAMc.555G>A (p.Val185=)
c.540G>A (p.Val180=)
Xg.153870930_153870931delCA2579733056L1CAMc.554_555del (p.Val185AspfsTer?)
c.539_540del (p.Val180AspfsTer?)
Xg.153870930A>CCA415135852L1CAMc.554T>G (p.Val185Gly)
c.539T>G (p.Val180Gly)
Xg.153870930A>GCA415135855L1CAMc.554T>C (p.Val185Ala)
c.539T>C (p.Val180Ala)
Xg.153870930A>TCA415135856L1CAMc.554T>A (p.Val185Glu)
c.539T>A (p.Val180Glu)
Xg.153870931C>ACA415135859L1CAMc.553G>T (p.Val185Leu)
c.538G>T (p.Val180Leu)
Xg.153870931C>GCA415135862L1CAMc.553G>C (p.Val185Leu)
c.538G>C (p.Val180Leu)
Xg.153870931C>TCA415135865L1CAMc.553G>A (p.Val185Met)
c.538G>A (p.Val180Met)
Xg.153870932C>ACA519344298L1CAMc.552G>T (p.Arg184=)
c.537G>T (p.Arg179=)
 dbSNP gnomAD v3 gnomAD v4
Xg.153870932C=CA2466507323L1CAMc.552G= (p.Arg184=)
c.537G= (p.Arg179=)
Xg.153870932C>GCA519344296L1CAMc.552G>C (p.Arg184=)
c.537G>C (p.Arg179=)
Xg.153870932C>TCA519344297L1CAMc.552G>A (p.Arg184=)
c.537G>A (p.Arg179=)
Xg.153870933C>ACA415135868L1CAMc.551G>T (p.Arg184Leu)
c.536G>T (p.Arg179Leu)
 COSMIC
Xg.153870933C=CA2466507324L1CAMc.551G= (p.Arg184=)
c.536G= (p.Arg179=)
Xg.153870933C>GCA415135871L1CAMc.551G>C (p.Arg184Pro)
c.536G>C (p.Arg179Pro)
Xg.153870933C>TCA254959L1CAMc.551G>A (p.Arg184Gln)
c.536G>A (p.Arg179Gln)
 ClinVar dbSNP
Xg.153870934G>ACA415135875L1CAMc.550C>T (p.Arg184Trp)
c.535C>T (p.Arg179Trp)
 ClinVar COSMIC
Xg.153870934G>CCA415135878L1CAMc.550C>G (p.Arg184Gly)
c.535C>G (p.Arg179Gly)
Xg.153870934G>TCA519344299L1CAMc.550C>A (p.Arg184=)
c.535C>A (p.Arg179=)
 ClinVar
Xg.153870935C>ACA415135881L1CAMc.549G>T (p.Glu183Asp)
c.534G>T (p.Glu178Asp)
Xg.153870935C>GCA415135884L1CAMc.549G>C (p.Glu183Asp)
c.534G>C (p.Glu178Asp)
Xg.153870935C>TCA519344300L1CAMc.549G>A (p.Glu183=)
c.534G>A (p.Glu178=)
Xg.153870936T>ACA415135890L1CAMc.548A>T (p.Glu183Val)
c.533A>T (p.Glu178Val)
Xg.153870936T>CCA415135892L1CAMc.548A>G (p.Glu183Gly)
c.533A>G (p.Glu178Gly)
Xg.153870936T>GCA415135893L1CAMc.548A>C (p.Glu183Ala)
c.533A>C (p.Glu178Ala)
Xg.153870937C>ACA415135894L1CAMc.547G>T (p.Glu183Ter)
c.532G>T (p.Glu178Ter)
Xg.153870937C=CA2466507325L1CAMc.547G= (p.Glu183=)
c.532G= (p.Glu178=)
Xg.153870937C>GCA415135895L1CAMc.547G>C (p.Glu183Gln)
c.532G>C (p.Glu178Gln)
Xg.153870937C>TCA10554553L1CAMc.547G>A (p.Glu183Lys)
c.532G>A (p.Glu178Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870938G>ACA10554554L1CAMc.546C>T (p.Asp182=)
c.531C>T (p.Asp177=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.153870938G>CCA415135901L1CAMc.546C>G (p.Asp182Glu)
c.531C>G (p.Asp177Glu)
Xg.153870938G=CA2466507326L1CAMc.546C= (p.Asp182=)
c.531C= (p.Asp177=)
Xg.153870938G>TCA415135903L1CAMc.546C>A (p.Asp182Glu)
c.531C>A (p.Asp177Glu)
Xg.153870939T>ACA415135907L1CAMc.545A>T (p.Asp182Val)
c.530A>T (p.Asp177Val)
Xg.153870939T>CCA415135910L1CAMc.545A>G (p.Asp182Gly)
c.530A>G (p.Asp177Gly)
Xg.153870939T>GCA415135913L1CAMc.545A>C (p.Asp182Ala)
c.530A>C (p.Asp177Ala)
Xg.153870940C>ACA415135922L1CAMc.544G>T (p.Asp182Tyr)
c.529G>T (p.Asp177Tyr)
Xg.153870940C>GCA415135920L1CAMc.544G>C (p.Asp182His)
c.529G>C (p.Asp177His)
 gnomAD v4
Xg.153870940C>TCA415135917L1CAMc.544G>A (p.Asp182Asn)
c.529G>A (p.Asp177Asn)
Xg.153870941C>ACA415135924L1CAMc.543G>T (p.Gln181His)
c.528G>T (p.Gln176His)
Xg.153870941C>GCA415135927L1CAMc.543G>C (p.Gln181His)
c.528G>C (p.Gln176His)
Xg.153870941C>TCA519344301L1CAMc.543G>A (p.Gln181=)
c.528G>A (p.Gln176=)
Xg.153870942T>ACA415135931L1CAMc.542A>T (p.Gln181Leu)
c.527A>T (p.Gln176Leu)
Xg.153870942T>CCA415135933L1CAMc.542A>G (p.Gln181Arg)
c.527A>G (p.Gln176Arg)
Xg.153870942T>GCA415135936L1CAMc.542A>C (p.Gln181Pro)
c.527A>C (p.Gln176Pro)
Xg.153870943G>ACA415135939L1CAMc.541C>T (p.Gln181Ter)
c.526C>T (p.Gln176Ter)
Xg.153870943G>CCA415135942L1CAMc.541C>G (p.Gln181Glu)
c.526C>G (p.Gln176Glu)
Xg.153870943G>TCA415135945L1CAMc.541C>A (p.Gln181Lys)
c.526C>A (p.Gln176Lys)
Xg.153870944C>ACA415135948L1CAMc.540G>T (p.Lys180Asn)
c.525G>T (p.Lys175Asn)
 COSMIC
Xg.153870944C>GCA415135951L1CAMc.540G>C (p.Lys180Asn)
c.525G>C (p.Lys175Asn)
Xg.153870944C>TCA519344302L1CAMc.540G>A (p.Lys180=)
c.525G>A (p.Lys175=)
Xg.153870945T>ACA415135954L1CAMc.539A>T (p.Lys180Met)
c.524A>T (p.Lys175Met)
Xg.153870945T>CCA10554555L1CAMc.539A>G (p.Lys180Arg)
c.524A>G (p.Lys175Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.153870945T>GCA415135959L1CAMc.539A>C (p.Lys180Thr)
c.524A>C (p.Lys175Thr)
Xg.153870945T=CA2466507327L1CAMc.539A= (p.Lys180=)
c.524A= (p.Lys175=)
Xg.153870946T>ACA415135967L1CAMc.538A>T (p.Lys180Ter)
c.523A>T (p.Lys175Ter)
Xg.153870946T>CCA415135970L1CAMc.538A>G (p.Lys180Glu)
c.523A>G (p.Lys175Glu)
Xg.153870946T>GCA415135964L1CAMc.538A>C (p.Lys180Gln)
c.523A>C (p.Lys175Gln)
Xg.153870947G>ACA519344303L1CAMc.537C>T (p.Ile179=)
c.522C>T (p.Ile174=)
Xg.153870947G>CCA415135973L1CAMc.537C>G (p.Ile179Met)
c.522C>G (p.Ile174Met)
Xg.153870947G>TCA519344304L1CAMc.537C>A (p.Ile179=)
c.522C>A (p.Ile174=)
Xg.153870948A=CA2466507328L1CAMc.536T= (p.Ile179=)
c.521T= (p.Ile174=)
Xg.153870948A>CCA254961L1CAMc.536T>G (p.Ile179Ser)
c.521T>G (p.Ile174Ser)
 ClinVar dbSNP
Xg.153870948A>GCA415135978L1CAMc.536T>C (p.Ile179Thr)
c.521T>C (p.Ile174Thr)
Xg.153870948A>TCA415135980L1CAMc.536T>A (p.Ile179Asn)
c.521T>A (p.Ile174Asn)
Xg.153870949T>ACA415135984L1CAMc.535A>T (p.Ile179Phe)
c.520A>T (p.Ile174Phe)
Xg.153870949T>CCA415135986L1CAMc.535A>G (p.Ile179Val)
c.520A>G (p.Ile174Val)
Xg.153870949T>GCA415135987L1CAMc.535A>C (p.Ile179Leu)
c.520A>C (p.Ile174Leu)
Xg.153870950G>ACA519344305L1CAMc.534C>T (p.His178=)
c.519C>T (p.His173=)
Xg.153870950G>CCA415135988L1CAMc.534C>G (p.His178Gln)
c.519C>G (p.His173Gln)
Xg.153870950G>TCA415135989L1CAMc.534C>A (p.His178Gln)
c.519C>A (p.His173Gln)
Xg.153870951T>ACA415135990L1CAMc.533A>T (p.His178Leu)
c.518A>T (p.His173Leu)
Xg.153870951T>CCA415135991L1CAMc.533A>G (p.His178Arg)
c.518A>G (p.His173Arg)
Xg.153870951T>GCA415135993L1CAMc.533A>C (p.His178Pro)
c.518A>C (p.His173Pro)
Xg.153870952G>ACA415135999L1CAMc.532C>T (p.His178Tyr)
c.517C>T (p.His173Tyr)
Xg.153870952G>CCA415135995L1CAMc.532C>G (p.His178Asp)
c.517C>G (p.His173Asp)
Xg.153870952G>TCA415135998L1CAMc.532C>A (p.His178Asn)
c.517C>A (p.His173Asn)
Xg.153870953C>ACA415136002L1CAMc.531G>T (p.Leu177Phe)
c.516G>T (p.Leu172Phe)
Xg.153870953C=CA2466507329L1CAMc.531G= (p.Leu177=)
c.516G= (p.Leu172=)
Xg.153870953C>GCA415136003L1CAMc.531G>C (p.Leu177Phe)
c.516G>C (p.Leu172Phe)
Xg.153870953C>TCA519344306L1CAMc.531G>A (p.Leu177=)
c.516G>A (p.Leu172=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched