Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261887C>ACA435424452CASRc.852C>A (p.Val284=)
c.369C>A (p.Val123=)
c.264C>A (p.Val88=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261887C=CA1397873158CASRc.852C= (p.Val284=)
c.369C= (p.Val123=)
c.264C= (p.Val88=)
3g.122261887C>GCA435424454CASRc.852C>G (p.Val284=)
c.369C>G (p.Val123=)
c.264C>G (p.Val88=)
3g.122261887C>TCA435424453CASRc.852C>T (p.Val284=)
c.369C>T (p.Val123=)
c.264C>T (p.Val88=)
 dbSNP gnomAD v2 gnomAD v4
3g.122261888C>ACA435424455CASRc.853C>A (p.Arg285=)
c.370C>A (p.Arg124=)
c.265C>A (p.Arg89=)
 COSMIC
3g.122261888C=CA1397873161CASRc.853C= (p.Arg285=)
c.370C= (p.Arg124=)
c.265C= (p.Arg89=)
3g.122261888C>GCA354151494CASRc.853C>G (p.Arg285Gly)
c.370C>G (p.Arg124Gly)
c.265C>G (p.Arg89Gly)
3g.122261888C>TCA354151495CASRc.853C>T (p.Arg285Trp)
c.370C>T (p.Arg124Trp)
c.265C>T (p.Arg89Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261889G>ACA10582120CASRc.854G>A (p.Arg285Gln)
c.371G>A (p.Arg124Gln)
c.266G>A (p.Arg89Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261889G>CCA2569546CASRc.854G>C (p.Arg285Pro)
c.371G>C (p.Arg124Pro)
c.266G>C (p.Arg89Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261889G=CA1397873162CASRc.854G= (p.Arg285=)
c.371G= (p.Arg124=)
c.266G= (p.Arg89=)
3g.122261889G>TCA354151496CASRc.854G>T (p.Arg285Leu)
c.371G>T (p.Arg124Leu)
c.266G>T (p.Arg89Leu)
 gnomAD v4
3g.122261890G>ACA435424457CASRc.855G>A (p.Arg285=)
c.372G>A (p.Arg124=)
c.267G>A (p.Arg89=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261890G>CCA435424458CASRc.855G>C (p.Arg285=)
c.372G>C (p.Arg124=)
c.267G>C (p.Arg89=)
3g.122261890G=CA1397873164CASRc.855G= (p.Arg285=)
c.372G= (p.Arg124=)
c.267G= (p.Arg89=)
3g.122261890G>TCA435424459CASRc.855G>T (p.Arg285=)
c.372G>T (p.Arg124=)
c.267G>T (p.Arg89=)
 ClinVar dbSNP
3g.122261891C>ACA354151497CASRc.856C>A (p.Arg286Ser)
c.373C>A (p.Arg125Ser)
c.268C>A (p.Arg90Ser)
 ClinVar dbSNP gnomAD v4
3g.122261891C=CA1397873166CASRc.856C= (p.Arg286=)
c.373C= (p.Arg125=)
c.268C= (p.Arg90=)
3g.122261891C>GCA354151498CASRc.856C>G (p.Arg286Gly)
c.373C>G (p.Arg125Gly)
c.268C>G (p.Arg90Gly)
3g.122261891C>TCA16611296CASRc.856C>T (p.Arg286Cys)
c.373C>T (p.Arg125Cys)
c.268C>T (p.Arg90Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122261892G>ACA82738600CASRc.857G>A (p.Arg286His)
c.374G>A (p.Arg125His)
c.269G>A (p.Arg90His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261892G>CCA354151500CASRc.857G>C (p.Arg286Pro)
c.374G>C (p.Arg125Pro)
c.269G>C (p.Arg90Pro)
 ClinVar dbSNP
3g.122261892G=CA1397873169CASRc.857G= (p.Arg286=)
c.374G= (p.Arg125=)
c.269G= (p.Arg90=)
3g.122261892G>TCA354151499CASRc.857G>T (p.Arg286Leu)
c.374G>T (p.Arg125Leu)
c.269G>T (p.Arg90Leu)
3g.122261893C>ACA435424483CASRc.858C>A (p.Arg286=)
c.375C>A (p.Arg125=)
c.270C>A (p.Arg90=)
3g.122261893C>GCA435424484CASRc.858C>G (p.Arg286=)
c.375C>G (p.Arg125=)
c.270C>G (p.Arg90=)
3g.122261893C>TCA435424485CASRc.858C>T (p.Arg286=)
c.375C>T (p.Arg125=)
c.270C>T (p.Arg90=)
 ClinVar dbSNP
3g.122261894A>CCA354151501CASRc.859A>C (p.Asn287His)
c.376A>C (p.Asn126His)
c.271A>C (p.Asn91His)
 ClinVar dbSNP
3g.122261894A>GCA354151503CASRc.859A>G (p.Asn287Asp)
c.376A>G (p.Asn126Asp)
c.271A>G (p.Asn91Asp)
3g.122261894A>TCA354151502CASRc.859A>T (p.Asn287Tyr)
c.376A>T (p.Asn126Tyr)
c.271A>T (p.Asn91Tyr)
3g.122261895A=CA1397873172CASRc.860A= (p.Asn287=)
c.377A= (p.Asn126=)
c.272A= (p.Asn91=)
3g.122261895A>CCA354151504CASRc.860A>C (p.Asn287Thr)
c.377A>C (p.Asn126Thr)
c.272A>C (p.Asn91Thr)
3g.122261895A>GCA354151506CASRc.860A>G (p.Asn287Ser)
c.377A>G (p.Asn126Ser)
c.272A>G (p.Asn91Ser)
 ClinVar dbSNP
3g.122261895A>TCA354151505CASRc.860A>T (p.Asn287Ile)
c.377A>T (p.Asn126Ile)
c.272A>T (p.Asn91Ile)
3g.122261896T>ACA354151507CASRc.861T>A (p.Asn287Lys)
c.378T>A (p.Asn126Lys)
c.273T>A (p.Asn91Lys)
3g.122261896T>CCA2569547CASRc.861T>C (p.Asn287=)
c.378T>C (p.Asn126=)
c.273T>C (p.Asn91=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261896T>GCA354151508CASRc.861T>G (p.Asn287Lys)
c.378T>G (p.Asn126Lys)
c.273T>G (p.Asn91Lys)
3g.122261896T=CA1397873173CASRc.861T= (p.Asn287=)
c.378T= (p.Asn126=)
c.273T= (p.Asn91=)
3g.122261897A>CCA354151509CASRc.862A>C (p.Ile288Leu)
c.379A>C (p.Ile127Leu)
c.274A>C (p.Ile92Leu)
3g.122261897A>GCA354151510CASRc.862A>G (p.Ile288Val)
c.379A>G (p.Ile127Val)
c.274A>G (p.Ile92Val)
 ClinVar dbSNP gnomAD v4
3g.122261897A>TCA354151511CASRc.862A>T (p.Ile288Phe)
c.379A>T (p.Ile127Phe)
c.274A>T (p.Ile92Phe)
3g.122261898T>ACA354151512CASRc.863T>A (p.Ile288Asn)
c.380T>A (p.Ile127Asn)
c.275T>A (p.Ile92Asn)
3g.122261898T>CCA354151513CASRc.863T>C (p.Ile288Thr)
c.380T>C (p.Ile127Thr)
c.275T>C (p.Ile92Thr)
3g.122261898T>GCA354151514CASRc.863T>G (p.Ile288Ser)
c.380T>G (p.Ile127Ser)
c.275T>G (p.Ile92Ser)
3g.122261898_122261900delinsTCACA1397873174CASRc.863_865delinsTCA (p.Ile288=)
c.380_382delinsTCA (p.Ile127=)
c.275_277delinsTCA (p.Ile92=)
3g.122261899C>ACA435424492CASRc.864C>A (p.Ile288=)
c.381C>A (p.Ile127=)
c.276C>A (p.Ile92=)
3g.122261899C=CA1397873175CASRc.864C= (p.Ile288=)
c.381C= (p.Ile127=)
c.276C= (p.Ile92=)
3g.122261899C>GCA354151515CASRc.864C>G (p.Ile288Met)
c.381C>G (p.Ile127Met)
c.276C>G (p.Ile92Met)
3g.122261899C>TCA435424493CASRc.864C>T (p.Ile288=)
c.381C>T (p.Ile127=)
c.276C>T (p.Ile92=)
 ClinVar dbSNP COSMIC
3g.122261900_122261901delCA545962748CASRc.865_866del (p.Thr289GlyfsTer?)
c.382_383del (p.Thr128GlyfsTer?)
c.277_278del (p.Thr93GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261900A=CA1397873178CASRc.865A= (p.Thr289=)
c.382A= (p.Thr128=)
c.277A= (p.Thr93=)
3g.122261900A>CCA354151516CASRc.865A>C (p.Thr289Pro)
c.382A>C (p.Thr128Pro)
c.277A>C (p.Thr93Pro)
3g.122261900A>GCA354151517CASRc.865A>G (p.Thr289Ala)
c.382A>G (p.Thr128Ala)
c.277A>G (p.Thr93Ala)
 ClinVar dbSNP gnomAD v4
3g.122261900A>TCA354151518CASRc.865A>T (p.Thr289Ser)
c.382A>T (p.Thr128Ser)
c.277A>T (p.Thr93Ser)
3g.122261901delCA2667224711CASRc.866del (p.Thr289ArgfsTer16)
c.383del (p.Thr128ArgfsTer16)
c.278del (p.Thr93ArgfsTer16)
 gnomAD v4
3g.122261901C>ACA354151519CASRc.866C>A (p.Thr289Lys)
c.383C>A (p.Thr128Lys)
c.278C>A (p.Thr93Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261901C=CA1397873181CASRc.866C= (p.Thr289=)
c.383C= (p.Thr128=)
c.278C= (p.Thr93=)
3g.122261901C>GCA354151520CASRc.866C>G (p.Thr289Arg)
c.383C>G (p.Thr128Arg)
c.278C>G (p.Thr93Arg)
 ClinVar dbSNP gnomAD v4
3g.122261901C>TCA2569548CASRc.866C>T (p.Thr289Met)
c.383C>T (p.Thr128Met)
c.278C>T (p.Thr93Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261902G>ACA2569549CASRc.867G>A (p.Thr289=)
c.384G>A (p.Thr128=)
c.279G>A (p.Thr93=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261902G>CCA435424495CASRc.867G>C (p.Thr289=)
c.384G>C (p.Thr128=)
c.279G>C (p.Thr93=)
 ClinVar
3g.122261902G=CA1397873183CASRc.867G= (p.Thr289=)
c.384G= (p.Thr128=)
c.279G= (p.Thr93=)
3g.122261902G>TCA435424496CASRc.867G>T (p.Thr289=)
c.384G>T (p.Thr128=)
c.279G>T (p.Thr93=)
 ClinVar COSMIC
3g.122261903G>ACA354151521CASRc.868G>A (p.Gly290Ser)
c.385G>A (p.Gly129Ser)
c.280G>A (p.Gly94Ser)
 COSMIC
3g.122261903G>CCA354151522CASRc.868G>C (p.Gly290Arg)
c.385G>C (p.Gly129Arg)
c.280G>C (p.Gly94Arg)
3g.122261903G>TCA354151523CASRc.868G>T (p.Gly290Cys)
c.385G>T (p.Gly129Cys)
c.280G>T (p.Gly94Cys)
3g.122261904G>ACA354151524CASRc.869G>A (p.Gly290Asp)
c.386G>A (p.Gly129Asp)
c.281G>A (p.Gly94Asp)
 ClinVar
3g.122261904G>CCA354151525CASRc.869G>C (p.Gly290Ala)
c.386G>C (p.Gly129Ala)
c.281G>C (p.Gly94Ala)
3g.122261904G>TCA354151526CASRc.869G>T (p.Gly290Val)
c.386G>T (p.Gly129Val)
c.281G>T (p.Gly94Val)
3g.122261905C>ACA435424499CASRc.870C>A (p.Gly290=)
c.387C>A (p.Gly129=)
c.282C>A (p.Gly94=)
3g.122261905C=CA1397873186CASRc.870C= (p.Gly290=)
c.387C= (p.Gly129=)
c.282C= (p.Gly94=)
3g.122261905C>GCA435424500CASRc.870C>G (p.Gly290=)
c.387C>G (p.Gly129=)
c.282C>G (p.Gly94=)
3g.122261905C>TCA435424501CASRc.870C>T (p.Gly290=)
c.387C>T (p.Gly129=)
c.282C>T (p.Gly94=)
 ClinVar dbSNP gnomAD v4
3g.122261906A>CCA354151527CASRc.871A>C (p.Lys291Gln)
c.388A>C (p.Lys130Gln)
c.283A>C (p.Lys95Gln)
3g.122261906A>GCA354151528CASRc.871A>G (p.Lys291Glu)
c.388A>G (p.Lys130Glu)
c.283A>G (p.Lys95Glu)
3g.122261906A>TCA354151529CASRc.871A>T (p.Lys291Ter)
c.388A>T (p.Lys130Ter)
c.283A>T (p.Lys95Ter)
3g.122261907A>CCA354151530CASRc.872A>C (p.Lys291Thr)
c.389A>C (p.Lys130Thr)
c.284A>C (p.Lys95Thr)
3g.122261907A>GCA354151531CASRc.872A>G (p.Lys291Arg)
c.389A>G (p.Lys130Arg)
c.284A>G (p.Lys95Arg)
3g.122261907A>TCA354151532CASRc.872A>T (p.Lys291Met)
c.389A>T (p.Lys130Met)
c.284A>T (p.Lys95Met)
3g.122261908G>ACA435424506CASRc.873G>A (p.Lys291=)
c.390G>A (p.Lys130=)
c.285G>A (p.Lys95=)
3g.122261908G>CCA2569550CASRc.873G>C (p.Lys291Asn)
c.390G>C (p.Lys130Asn)
c.285G>C (p.Lys95Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261908G=CA1397873188CASRc.873G= (p.Lys291=)
c.390G= (p.Lys130=)
c.285G= (p.Lys95=)
3g.122261908G>TCA354151533CASRc.873G>T (p.Lys291Asn)
c.390G>T (p.Lys130Asn)
c.285G>T (p.Lys95Asn)
3g.122261909A>CCA354151534CASRc.874A>C (p.Ile292Leu)
c.391A>C (p.Ile131Leu)
c.286A>C (p.Ile96Leu)
3g.122261909A>GCA354151536CASRc.874A>G (p.Ile292Val)
c.391A>G (p.Ile131Val)
c.286A>G (p.Ile96Val)
3g.122261909A>TCA354151535CASRc.874A>T (p.Ile292Phe)
c.391A>T (p.Ile131Phe)
c.286A>T (p.Ile96Phe)
3g.122261910T>ACA354151537CASRc.875T>A (p.Ile292Asn)
c.392T>A (p.Ile131Asn)
c.287T>A (p.Ile96Asn)
3g.122261910T>CCA354151538CASRc.875T>C (p.Ile292Thr)
c.392T>C (p.Ile131Thr)
c.287T>C (p.Ile96Thr)
3g.122261910T>GCA354151539CASRc.875T>G (p.Ile292Ser)
c.392T>G (p.Ile131Ser)
c.287T>G (p.Ile96Ser)
3g.122261911C>ACA435424507CASRc.876C>A (p.Ile292=)
c.393C>A (p.Ile131=)
c.288C>A (p.Ile96=)
3g.122261911C=CA1397873190CASRc.876C= (p.Ile292=)
c.393C= (p.Ile131=)
c.288C= (p.Ile96=)
3g.122261911C>GCA354151540CASRc.876C>G (p.Ile292Met)
c.393C>G (p.Ile131Met)
c.288C>G (p.Ile96Met)
3g.122261911C>TCA2569551CASRc.876C>T (p.Ile292=)
c.393C>T (p.Ile131=)
c.288C>T (p.Ile96=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261912T>ACA354151541CASRc.877T>A (p.Trp293Arg)
c.394T>A (p.Trp132Arg)
c.289T>A (p.Trp97Arg)
3g.122261912T>CCA354151542CASRc.877T>C (p.Trp293Arg)
c.394T>C (p.Trp132Arg)
c.289T>C (p.Trp97Arg)
3g.122261912T>GCA354151543CASRc.877T>G (p.Trp293Gly)
c.394T>G (p.Trp132Gly)
c.289T>G (p.Trp97Gly)
3g.122261913G>ACA354151544CASRc.878G>A (p.Trp293Ter)
c.395G>A (p.Trp132Ter)
c.290G>A (p.Trp97Ter)
 ClinVar gnomAD v4
3g.122261913G>CCA354151545CASRc.878G>C (p.Trp293Ser)
c.395G>C (p.Trp132Ser)
c.290G>C (p.Trp97Ser)
3g.122261913G>TCA354151546CASRc.878G>T (p.Trp293Leu)
c.395G>T (p.Trp132Leu)
c.290G>T (p.Trp97Leu)
3g.122261914G>ACA354151548CASRc.879G>A (p.Trp293Ter)
c.396G>A (p.Trp132Ter)
c.291G>A (p.Trp97Ter)
3g.122261914G>CCA354151547CASRc.879G>C (p.Trp293Cys)
c.396G>C (p.Trp132Cys)
c.291G>C (p.Trp97Cys)
3g.122261914G=CA1397873192CASRc.879G= (p.Trp293=)
c.396G= (p.Trp132=)
c.291G= (p.Trp97=)
3g.122261914G>TCA2569552CASRc.879G>T (p.Trp293Cys)
c.396G>T (p.Trp132Cys)
c.291G>T (p.Trp97Cys)
 ClinVar dbSNP ExAC gnomAD v2
3g.122261915C>ACA354151549CASRc.880C>A (p.Leu294Met)
c.397C>A (p.Leu133Met)
c.292C>A (p.Leu98Met)
3g.122261915C=CA1397873193CASRc.880C= (p.Leu294=)
c.397C= (p.Leu133=)
c.292C= (p.Leu98=)
3g.122261915C>GCA354151550CASRc.880C>G (p.Leu294Val)
c.397C>G (p.Leu133Val)
c.292C>G (p.Leu98Val)
3g.122261915C>TCA2569553CASRc.880C>T (p.Leu294=)
c.397C>T (p.Leu133=)
c.292C>T (p.Leu98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261916T>ACA354151551CASRc.881T>A (p.Leu294Gln)
c.398T>A (p.Leu133Gln)
c.293T>A (p.Leu98Gln)
3g.122261916T>CCA354151552CASRc.881T>C (p.Leu294Pro)
c.398T>C (p.Leu133Pro)
c.293T>C (p.Leu98Pro)
3g.122261916T>GCA354151553CASRc.881T>G (p.Leu294Arg)
c.398T>G (p.Leu133Arg)
c.293T>G (p.Leu98Arg)
3g.122261917G>ACA2569554CASRc.882G>A (p.Leu294=)
c.399G>A (p.Leu133=)
c.294G>A (p.Leu98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261917G>CCA435424521CASRc.882G>C (p.Leu294=)
c.399G>C (p.Leu133=)
c.294G>C (p.Leu98=)
3g.122261917G=CA1397873194CASRc.882G= (p.Leu294=)
c.399G= (p.Leu133=)
c.294G= (p.Leu98=)
3g.122261917G>TCA435424519CASRc.882G>T (p.Leu294=)
c.399G>T (p.Leu133=)
c.294G>T (p.Leu98=)
3g.122261924_122261938delCA435424517CASRc.889_903del (p.Glu297_Ser301del)
c.406_420del (p.Glu136_Ser140del)
c.301_315del (p.Glu101_Ser105del)
3g.122261918G>ACA354151554CASRc.883G>A (p.Ala295Thr)
c.400G>A (p.Ala134Thr)
c.295G>A (p.Ala99Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261918G>CCA354151555CASRc.883G>C (p.Ala295Pro)
c.400G>C (p.Ala134Pro)
c.295G>C (p.Ala99Pro)
3g.122261918G=CA1397873196CASRc.883G= (p.Ala295=)
c.400G= (p.Ala134=)
c.295G= (p.Ala99=)
3g.122261918G>TCA354151556CASRc.883G>T (p.Ala295Ser)
c.400G>T (p.Ala134Ser)
c.295G>T (p.Ala99Ser)
 COSMIC
3g.122261919C>ACA354151557CASRc.884C>A (p.Ala295Asp)
c.401C>A (p.Ala134Asp)
c.296C>A (p.Ala99Asp)
3g.122261919C=CA1397873197CASRc.884C= (p.Ala295=)
c.401C= (p.Ala134=)
c.296C= (p.Ala99=)
3g.122261919C>GCA354151558CASRc.884C>G (p.Ala295Gly)
c.401C>G (p.Ala134Gly)
c.296C>G (p.Ala99Gly)
 ClinVar dbSNP
3g.122261919C>TCA354151559CASRc.884C>T (p.Ala295Val)
c.401C>T (p.Ala134Val)
c.296C>T (p.Ala99Val)
 ClinVar
3g.122261920C>ACA82738613CASRc.885C>A (p.Ala295=)
c.402C>A (p.Ala134=)
c.297C>A (p.Ala99=)
 dbSNP
3g.122261920C=CA1397873199CASRc.885C= (p.Ala295=)
c.402C= (p.Ala134=)
c.297C= (p.Ala99=)
3g.122261920C>GCA435424525CASRc.885C>G (p.Ala295=)
c.402C>G (p.Ala134=)
c.297C>G (p.Ala99=)
3g.122261920C>TCA2569555CASRc.885C>T (p.Ala295=)
c.402C>T (p.Ala134=)
c.297C>T (p.Ala99=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261921A>CCA354151562CASRc.886A>C (p.Ser296Arg)
c.403A>C (p.Ser135Arg)
c.298A>C (p.Ser100Arg)
 COSMIC
3g.122261921A>GCA354151560CASRc.886A>G (p.Ser296Gly)
c.403A>G (p.Ser135Gly)
c.298A>G (p.Ser100Gly)
3g.122261921A>TCA354151561CASRc.886A>T (p.Ser296Cys)
c.403A>T (p.Ser135Cys)
c.298A>T (p.Ser100Cys)
 dbSNP
3g.122261922G>ACA354151563CASRc.887G>A (p.Ser296Asn)
c.404G>A (p.Ser135Asn)
c.299G>A (p.Ser100Asn)
3g.122261922G>CCA354151564CASRc.887G>C (p.Ser296Thr)
c.404G>C (p.Ser135Thr)
c.299G>C (p.Ser100Thr)
3g.122261922G>TCA354151565CASRc.887G>T (p.Ser296Ile)
c.404G>T (p.Ser135Ile)
c.299G>T (p.Ser100Ile)
3g.122261923C>ACA354151566CASRc.888C>A (p.Ser296Arg)
c.405C>A (p.Ser135Arg)
c.300C>A (p.Ser100Arg)
3g.122261923C=CA1397873200CASRc.888C= (p.Ser296=)
c.405C= (p.Ser135=)
c.300C= (p.Ser100=)
3g.122261923C>GCA354151567CASRc.888C>G (p.Ser296Arg)
c.405C>G (p.Ser135Arg)
c.300C>G (p.Ser100Arg)
 gnomAD v4
3g.122261923C>TCA2569556CASRc.888C>T (p.Ser296=)
c.405C>T (p.Ser135=)
c.300C>T (p.Ser100=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261924G>ACA119469CASRc.889G>A (p.Glu297Lys)
c.406G>A (p.Glu136Lys)
c.301G>A (p.Glu101Lys)
 ClinVar dbSNP gnomAD v4
3g.122261924G>CCA354151569CASRc.889G>C (p.Glu297Gln)
c.406G>C (p.Glu136Gln)
c.301G>C (p.Glu101Gln)
 ClinVar dbSNP
3g.122261924G=CA1397873202CASRc.889G= (p.Glu297=)
c.406G= (p.Glu136=)
c.301G= (p.Glu101=)
3g.122261924G>TCA354151568CASRc.889G>T (p.Glu297Ter)
c.406G>T (p.Glu136Ter)
c.301G>T (p.Glu101Ter)
3g.122261925A>CCA354151570CASRc.890A>C (p.Glu297Ala)
c.407A>C (p.Glu136Ala)
c.302A>C (p.Glu101Ala)
3g.122261925A>GCA354151571CASRc.890A>G (p.Glu297Gly)
c.407A>G (p.Glu136Gly)
c.302A>G (p.Glu101Gly)
3g.122261925A>TCA354151572CASRc.890A>T (p.Glu297Val)
c.407A>T (p.Glu136Val)
c.302A>T (p.Glu101Val)
3g.122261926G>ACA435424528CASRc.891G>A (p.Glu297=)
c.408G>A (p.Glu136=)
c.303G>A (p.Glu101=)
 gnomAD v4
3g.122261926G>CCA354151573CASRc.891G>C (p.Glu297Asp)
c.408G>C (p.Glu136Asp)
c.303G>C (p.Glu101Asp)
3g.122261926G=CA1397873204CASRc.891G= (p.Glu297=)
c.408G= (p.Glu136=)
c.303G= (p.Glu101=)
3g.122261926G>TCA354151574CASRc.891G>T (p.Glu297Asp)
c.408G>T (p.Glu136Asp)
c.303G>T (p.Glu101Asp)
 ClinVar dbSNP
3g.122261927G>ACA354151575CASRc.892G>A (p.Ala298Thr)
c.409G>A (p.Ala137Thr)
c.304G>A (p.Ala102Thr)
3g.122261927G>CCA354151577CASRc.892G>C (p.Ala298Pro)
c.409G>C (p.Ala137Pro)
c.304G>C (p.Ala102Pro)
3g.122261927G>TCA354151576CASRc.892G>T (p.Ala298Ser)
c.409G>T (p.Ala137Ser)
c.304G>T (p.Ala102Ser)
3g.122261928C>ACA354151578CASRc.893C>A (p.Ala298Asp)
c.410C>A (p.Ala137Asp)
c.305C>A (p.Ala102Asp)
 ClinVar
3g.122261928C=CA1397873206CASRc.893C= (p.Ala298=)
c.410C= (p.Ala137=)
c.305C= (p.Ala102=)
3g.122261928C>GCA354151579CASRc.893C>G (p.Ala298Gly)
c.410C>G (p.Ala137Gly)
c.305C>G (p.Ala102Gly)
3g.122261928C>TCA16617816CASRc.893C>T (p.Ala298Val)
c.410C>T (p.Ala137Val)
c.305C>T (p.Ala102Val)
 ClinVar dbSNP
3g.122261929C>ACA435424530CASRc.894C>A (p.Ala298=)
c.411C>A (p.Ala137=)
c.306C>A (p.Ala102=)
3g.122261929C=CA1397873207CASRc.894C= (p.Ala298=)
c.411C= (p.Ala137=)
c.306C= (p.Ala102=)
3g.122261929C>GCA435424531CASRc.894C>G (p.Ala298=)
c.411C>G (p.Ala137=)
c.306C>G (p.Ala102=)
 ClinVar dbSNP
3g.122261929C>TCA435424532CASRc.894C>T (p.Ala298=)
c.411C>T (p.Ala137=)
c.306C>T (p.Ala102=)
3g.122261930T>ACA354151580CASRc.895T>A (p.Trp299Arg)
c.412T>A (p.Trp138Arg)
c.307T>A (p.Trp103Arg)
3g.122261930T>CCA354151581CASRc.895T>C (p.Trp299Arg)
c.412T>C (p.Trp138Arg)
c.307T>C (p.Trp103Arg)
3g.122261930T>GCA354151582CASRc.895T>G (p.Trp299Gly)
c.412T>G (p.Trp138Gly)
c.307T>G (p.Trp103Gly)
3g.122261931G>ACA354151583CASRc.896G>A (p.Trp299Ter)
c.413G>A (p.Trp138Ter)
c.308G>A (p.Trp103Ter)
 gnomAD v4
3g.122261931G>CCA354151584CASRc.896G>C (p.Trp299Ser)
c.413G>C (p.Trp138Ser)
c.308G>C (p.Trp103Ser)
3g.122261931G>TCA354151585CASRc.896G>T (p.Trp299Leu)
c.413G>T (p.Trp138Leu)
c.308G>T (p.Trp103Leu)
3g.122261932G>ACA354151586CASRc.897G>A (p.Trp299Ter)
c.414G>A (p.Trp138Ter)
c.309G>A (p.Trp103Ter)
3g.122261932G>CCA354151587CASRc.897G>C (p.Trp299Cys)
c.414G>C (p.Trp138Cys)
c.309G>C (p.Trp103Cys)
3g.122261932G>TCA354151588CASRc.897G>T (p.Trp299Cys)
c.414G>T (p.Trp138Cys)
c.309G>T (p.Trp103Cys)
3g.122261932_122261933insTGCTCATCATTGGGGATGGTTCGGACA2758181237CASRc.897_898insTGCTCATCATTGGGGATGGTTCGGA (p.Ala300CysfsTer?)
c.414_415insTGCTCATCATTGGGGATGGTTCGGA (p.Ala139CysfsTer?)
c.309_310insTGCTCATCATTGGGGATGGTTCGGA (p.Ala104CysfsTer?)
3g.122261933G>ACA354151589CASRc.898G>A (p.Ala300Thr)
c.415G>A (p.Ala139Thr)
c.310G>A (p.Ala104Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122261933G>CCA354151591CASRc.898G>C (p.Ala300Pro)
c.415G>C (p.Ala139Pro)
c.310G>C (p.Ala104Pro)
3g.122261933G=CA1397873208CASRc.898G= (p.Ala300=)
c.415G= (p.Ala139=)
c.310G= (p.Ala104=)
3g.122261933G>TCA354151590CASRc.898G>T (p.Ala300Ser)
c.415G>T (p.Ala139Ser)
c.310G>T (p.Ala104Ser)
3g.122261934C>ACA354151592CASRc.899C>A (p.Ala300Asp)
c.416C>A (p.Ala139Asp)
c.311C>A (p.Ala104Asp)
3g.122261934C>GCA354151593CASRc.899C>G (p.Ala300Gly)
c.416C>G (p.Ala139Gly)
c.311C>G (p.Ala104Gly)
3g.122261934C>TCA354151594CASRc.899C>T (p.Ala300Val)
c.416C>T (p.Ala139Val)
c.311C>T (p.Ala104Val)
 COSMIC
3g.122261935C>ACA435424541CASRc.900C>A (p.Ala300=)
c.417C>A (p.Ala139=)
c.312C>A (p.Ala104=)
3g.122261935C>GCA435424542CASRc.900C>G (p.Ala300=)
c.417C>G (p.Ala139=)
c.312C>G (p.Ala104=)
 ClinVar dbSNP
3g.122261935C>TCA435424543CASRc.900C>T (p.Ala300=)
c.417C>T (p.Ala139=)
c.312C>T (p.Ala104=)
 COSMIC
3g.122261936A>CCA354151595CASRc.901A>C (p.Ser301Arg)
c.418A>C (p.Ser140Arg)
c.313A>C (p.Ser105Arg)
3g.122261936A>GCA354151596CASRc.901A>G (p.Ser301Gly)
c.418A>G (p.Ser140Gly)
c.313A>G (p.Ser105Gly)
3g.122261936A>TCA354151597CASRc.901A>T (p.Ser301Cys)
c.418A>T (p.Ser140Cys)
c.313A>T (p.Ser105Cys)
3g.122261937G>ACA354151600CASRc.902G>A (p.Ser301Asn)
c.419G>A (p.Ser140Asn)
c.314G>A (p.Ser105Asn)
3g.122261937G>CCA354151598CASRc.902G>C (p.Ser301Thr)
c.419G>C (p.Ser140Thr)
c.314G>C (p.Ser105Thr)
 dbSNP
3g.122261937G=CA1397873210CASRc.902G= (p.Ser301=)
c.419G= (p.Ser140=)
c.314G= (p.Ser105=)
3g.122261937G>TCA354151599CASRc.902G>T (p.Ser301Ile)
c.419G>T (p.Ser140Ile)
c.314G>T (p.Ser105Ile)
3g.122261938delCA2580068640CASRc.903del (p.Ser302ProfsTer3)
c.420del (p.Ser141ProfsTer3)
c.315del (p.Ser106ProfsTer3)
 ClinVar dbSNP
3g.122261938C>ACA354151601CASRc.903C>A (p.Ser301Arg)
c.420C>A (p.Ser140Arg)
c.315C>A (p.Ser105Arg)
3g.122261938C>GCA354151602CASRc.903C>G (p.Ser301Arg)
c.420C>G (p.Ser140Arg)
c.315C>G (p.Ser105Arg)
3g.122261938C>TCA435424547CASRc.903C>T (p.Ser301=)
c.420C>T (p.Ser140=)
c.315C>T (p.Ser105=)
 ClinVar dbSNP gnomAD v4
3g.122261939T>ACA354151603CASRc.904T>A (p.Ser302Thr)
c.421T>A (p.Ser141Thr)
c.316T>A (p.Ser106Thr)
 ClinVar dbSNP
3g.122261939T>CCA354151604CASRc.904T>C (p.Ser302Pro)
c.421T>C (p.Ser141Pro)
c.316T>C (p.Ser106Pro)
3g.122261939T>GCA354151605CASRc.904T>G (p.Ser302Ala)
c.421T>G (p.Ser141Ala)
c.316T>G (p.Ser106Ala)
3g.122261939T=CA1397873211CASRc.904T= (p.Ser302=)
c.421T= (p.Ser141=)
c.316T= (p.Ser106=)
3g.122261940C>ACA354151606CASRc.905C>A (p.Ser302Tyr)
c.422C>A (p.Ser141Tyr)
c.317C>A (p.Ser106Tyr)
 ClinVar dbSNP
3g.122261940C>GCA354151608CASRc.905C>G (p.Ser302Cys)
c.422C>G (p.Ser141Cys)
c.317C>G (p.Ser106Cys)
 ClinVar
3g.122261940C>TCA354151607CASRc.905C>T (p.Ser302Phe)
c.422C>T (p.Ser141Phe)
c.317C>T (p.Ser106Phe)
 COSMIC
3g.122261941C>ACA435424553CASRc.906C>A (p.Ser302=)
c.423C>A (p.Ser141=)
c.318C>A (p.Ser106=)
 ClinVar
3g.122261941C=CA1397873213CASRc.906C= (p.Ser302=)
c.423C= (p.Ser141=)
c.318C= (p.Ser106=)
3g.122261941C>GCA435424551CASRc.906C>G (p.Ser302=)
c.423C>G (p.Ser141=)
c.318C>G (p.Ser106=)
 dbSNP
3g.122261941C>TCA2569557CASRc.906C>T (p.Ser302=)
c.423C>T (p.Ser141=)
c.318C>T (p.Ser106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261942T>ACA354151609CASRc.907T>A (p.Ser303Thr)
c.424T>A (p.Ser142Thr)
c.319T>A (p.Ser107Thr)
3g.122261942T>CCA354151610CASRc.907T>C (p.Ser303Pro)
c.424T>C (p.Ser142Pro)
c.319T>C (p.Ser107Pro)
3g.122261942T>GCA354151611CASRc.907T>G (p.Ser303Ala)
c.424T>G (p.Ser142Ala)
c.319T>G (p.Ser107Ala)
3g.122261943C>ACA354151612CASRc.908C>A (p.Ser303Tyr)
c.425C>A (p.Ser142Tyr)
c.320C>A (p.Ser107Tyr)
3g.122261943C>GCA354151613CASRc.908C>G (p.Ser303Cys)
c.425C>G (p.Ser142Cys)
c.320C>G (p.Ser107Cys)
3g.122261943C>TCA354151614CASRc.908C>T (p.Ser303Phe)
c.425C>T (p.Ser142Phe)
c.320C>T (p.Ser107Phe)
 COSMIC
3g.122261944C>ACA435424560CASRc.909C>A (p.Ser303=)
c.426C>A (p.Ser142=)
c.321C>A (p.Ser107=)
3g.122261944C=CA1397873215CASRc.909C= (p.Ser303=)
c.426C= (p.Ser142=)
c.321C= (p.Ser107=)
3g.122261944C>GCA2569558CASRc.909C>G (p.Ser303=)
c.426C>G (p.Ser142=)
c.321C>G (p.Ser107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261944C>TCA435424561CASRc.909C>T (p.Ser303=)
c.426C>T (p.Ser142=)
c.321C>T (p.Ser107=)
 COSMIC
3g.122261945C>ACA354151615CASRc.910C>A (p.Leu304Met)
c.427C>A (p.Leu143Met)
c.322C>A (p.Leu108Met)
3g.122261945C>GCA354151616CASRc.910C>G (p.Leu304Val)
c.427C>G (p.Leu143Val)
c.322C>G (p.Leu108Val)
 gnomAD v4
3g.122261945C>TCA435424564CASRc.910C>T (p.Leu304=)
c.427C>T (p.Leu143=)
c.322C>T (p.Leu108=)
 ClinVar gnomAD v4
3g.122261946T>ACA354151617CASRc.911T>A (p.Leu304Gln)
c.428T>A (p.Leu143Gln)
c.323T>A (p.Leu108Gln)
3g.122261946T>CCA354151619CASRc.911T>C (p.Leu304Pro)
c.428T>C (p.Leu143Pro)
c.323T>C (p.Leu108Pro)
 dbSNP gnomAD v2 gnomAD v4
3g.122261946T>GCA354151618CASRc.911T>G (p.Leu304Arg)
c.428T>G (p.Leu143Arg)
c.323T>G (p.Leu108Arg)
3g.122261946T=CA1397873217CASRc.911T= (p.Leu304=)
c.428T= (p.Leu143=)
c.323T= (p.Leu108=)
3g.122261947G>ACA435424566CASRc.912G>A (p.Leu304=)
c.429G>A (p.Leu143=)
c.324G>A (p.Leu108=)
3g.122261947G>CCA435424568CASRc.912G>C (p.Leu304=)
c.429G>C (p.Leu143=)
c.324G>C (p.Leu108=)
3g.122261947G>TCA435424569CASRc.912G>T (p.Leu304=)
c.429G>T (p.Leu143=)
c.324G>T (p.Leu108=)
3g.122261948A=CA1397873219CASRc.913A= (p.Ile305=)
c.430A= (p.Ile144=)
c.325A= (p.Ile109=)
3g.122261948A>CCA354151620CASRc.913A>C (p.Ile305Leu)
c.430A>C (p.Ile144Leu)
c.325A>C (p.Ile109Leu)
3g.122261948A>GCA2569559CASRc.913A>G (p.Ile305Val)
c.430A>G (p.Ile144Val)
c.325A>G (p.Ile109Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.122261948A>TCA354151621CASRc.913A>T (p.Ile305Phe)
c.430A>T (p.Ile144Phe)
c.325A>T (p.Ile109Phe)
 gnomAD v4
3g.122261949T>ACA354151622CASRc.914T>A (p.Ile305Asn)
c.431T>A (p.Ile144Asn)
c.326T>A (p.Ile109Asn)
3g.122261949T>CCA354151623CASRc.914T>C (p.Ile305Thr)
c.431T>C (p.Ile144Thr)
c.326T>C (p.Ile109Thr)
3g.122261949T>GCA354151624CASRc.914T>G (p.Ile305Ser)
c.431T>G (p.Ile144Ser)
c.326T>G (p.Ile109Ser)
3g.122261950C>ACA2569560CASRc.915C>A (p.Ile305=)
c.432C>A (p.Ile144=)
c.327C>A (p.Ile109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261950C=CA1397873221CASRc.915C= (p.Ile305=)
c.432C= (p.Ile144=)
c.327C= (p.Ile109=)
3g.122261950C>GCA354151625CASRc.915C>G (p.Ile305Met)
c.432C>G (p.Ile144Met)
c.327C>G (p.Ile109Met)
 dbSNP gnomAD v4
3g.122261950C>TCA435424576CASRc.915C>T (p.Ile305=)
c.432C>T (p.Ile144=)
c.327C>T (p.Ile109=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122261951G>ACA354151626CASRc.916G>A (p.Ala306Thr)
c.433G>A (p.Ala145Thr)
c.328G>A (p.Ala110Thr)
 ClinVar dbSNP gnomAD v4
3g.122261951G>CCA354151627CASRc.916G>C (p.Ala306Pro)
c.433G>C (p.Ala145Pro)
c.328G>C (p.Ala110Pro)
 ClinVar gnomAD v4
3g.122261951G=CA1397873225CASRc.916G= (p.Ala306=)
c.433G= (p.Ala145=)
c.328G= (p.Ala110=)
3g.122261951G>TCA354151628CASRc.916G>T (p.Ala306Ser)
c.433G>T (p.Ala145Ser)
c.328G>T (p.Ala110Ser)
 ClinVar dbSNP
3g.122261952C>ACA354151629CASRc.917C>A (p.Ala306Asp)
c.434C>A (p.Ala145Asp)
c.329C>A (p.Ala110Asp)
3g.122261952C>GCA354151630CASRc.917C>G (p.Ala306Gly)
c.434C>G (p.Ala145Gly)
c.329C>G (p.Ala110Gly)
3g.122261952C>TCA354151631CASRc.917C>T (p.Ala306Val)
c.434C>T (p.Ala145Val)
c.329C>T (p.Ala110Val)
 gnomAD v4
3g.122261953C>ACA435424580CASRc.918C>A (p.Ala306=)
c.435C>A (p.Ala145=)
c.330C>A (p.Ala110=)
3g.122261953C>GCA435424581CASRc.918C>G (p.Ala306=)
c.435C>G (p.Ala145=)
c.330C>G (p.Ala110=)
3g.122261953C>TCA435424582CASRc.918C>T (p.Ala306=)
c.435C>T (p.Ala145=)
c.330C>T (p.Ala110=)
3g.122261954A=CA1397873227CASRc.919A= (p.Met307=)
c.436A= (p.Met146=)
c.331A= (p.Met111=)
3g.122261954A>CCA354151634CASRc.919A>C (p.Met307Leu)
c.436A>C (p.Met146Leu)
c.331A>C (p.Met111Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261954A>GCA354151633CASRc.919A>G (p.Met307Val)
c.436A>G (p.Met146Val)
c.331A>G (p.Met111Val)
 ClinVar gnomAD v4
3g.122261954A>TCA354151632CASRc.919A>T (p.Met307Leu)
c.436A>T (p.Met146Leu)
c.331A>T (p.Met111Leu)
3g.122261955T>ACA354151635CASRc.920T>A (p.Met307Lys)
c.437T>A (p.Met146Lys)
c.332T>A (p.Met111Lys)
3g.122261955T>CCA216142CASRc.920T>C (p.Met307Thr)
c.437T>C (p.Met146Thr)
c.332T>C (p.Met111Thr)
 ClinVar dbSNP
3g.122261955T>GCA354151636CASRc.920T>G (p.Met307Arg)
c.437T>G (p.Met146Arg)
c.332T>G (p.Met111Arg)
3g.122261955T=CA1397873229CASRc.920T= (p.Met307=)
c.437T= (p.Met146=)
c.332T= (p.Met111=)
3g.122261956G>ACA2569561CASRc.921G>A (p.Met307Ile)
c.438G>A (p.Met146Ile)
c.333G>A (p.Met111Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261956G>CCA354151637CASRc.921G>C (p.Met307Ile)
c.438G>C (p.Met146Ile)
c.333G>C (p.Met111Ile)
3g.122261956G=CA1397873231CASRc.921G= (p.Met307=)
c.438G= (p.Met146=)
c.333G= (p.Met111=)
3g.122261956G>TCA354151638CASRc.921G>T (p.Met307Ile)
c.438G>T (p.Met146Ile)
c.333G>T (p.Met111Ile)
3g.122261957C>ACA354151639CASRc.922C>A (p.Pro308Thr)
c.439C>A (p.Pro147Thr)
c.334C>A (p.Pro112Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.122261957C=CA1397873233CASRc.922C= (p.Pro308=)
c.439C= (p.Pro147=)
c.334C= (p.Pro112=)
3g.122261957C>GCA354151640CASRc.922C>G (p.Pro308Ala)
c.439C>G (p.Pro147Ala)
c.334C>G (p.Pro112Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.122261957C>TCA354151641CASRc.922C>T (p.Pro308Ser)
c.439C>T (p.Pro147Ser)
c.334C>T (p.Pro112Ser)
3g.122261958C>ACA354151642CASRc.923C>A (p.Pro308His)
c.440C>A (p.Pro147His)
c.335C>A (p.Pro112His)
3g.122261958C=CA1397873235CASRc.923C= (p.Pro308=)
c.440C= (p.Pro147=)
c.335C= (p.Pro112=)
3g.122261958C>GCA354151643CASRc.923C>G (p.Pro308Arg)
c.440C>G (p.Pro147Arg)
c.335C>G (p.Pro112Arg)
3g.122261958C>TCA2569562CASRc.923C>T (p.Pro308Leu)
c.440C>T (p.Pro147Leu)
c.335C>T (p.Pro112Leu)
 dbSNP ExAC gnomAD v2
3g.122261959_122261960dupCA2499216410CASRc.924_925dup (p.Gln309LeufsTer15)
c.441_442dup (p.Gln148LeufsTer15)
c.336_337dup (p.Gln113LeufsTer15)
 ClinVar dbSNP
3g.122261959T>ACA435424604CASRc.924T>A (p.Pro308=)
c.441T>A (p.Pro147=)
c.336T>A (p.Pro112=)
3g.122261959T>CCA435424605CASRc.924T>C (p.Pro308=)
c.441T>C (p.Pro147=)
c.336T>C (p.Pro112=)
3g.122261959T>GCA435424602CASRc.924T>G (p.Pro308=)
c.441T>G (p.Pro147=)
c.336T>G (p.Pro112=)
3g.122261960C>ACA354151646CASRc.925C>A (p.Gln309Lys)
c.442C>A (p.Gln148Lys)
c.337C>A (p.Gln113Lys)
3g.122261960C=CA1397873236CASRc.925C= (p.Gln309=)
c.442C= (p.Gln148=)
c.337C= (p.Gln113=)
3g.122261960C>GCA354151645CASRc.925C>G (p.Gln309Glu)
c.442C>G (p.Gln148Glu)
c.337C>G (p.Gln113Glu)
3g.122261960C>TCA354151644CASRc.925C>T (p.Gln309Ter)
c.442C>T (p.Gln148Ter)
c.337C>T (p.Gln113Ter)
 dbSNP gnomAD v2 gnomAD v4
3g.122261961A=CA1397873238CASRc.926A= (p.Gln309=)
c.443A= (p.Gln148=)
c.338A= (p.Gln113=)
3g.122261961A>CCA354151649CASRc.926A>C (p.Gln309Pro)
c.443A>C (p.Gln148Pro)
c.338A>C (p.Gln113Pro)
 ClinVar dbSNP gnomAD v4
3g.122261961A>GCA354151647CASRc.926A>G (p.Gln309Arg)
c.443A>G (p.Gln148Arg)
c.338A>G (p.Gln113Arg)
3g.122261961A>TCA354151648CASRc.926A>T (p.Gln309Leu)
c.443A>T (p.Gln148Leu)
c.338A>T (p.Gln113Leu)
 ClinVar dbSNP gnomAD v4
3g.122261962G>ACA435424608CASRc.927G>A (p.Gln309=)
c.444G>A (p.Gln148=)
c.339G>A (p.Gln113=)
3g.122261962G>CCA354151650CASRc.927G>C (p.Gln309His)
c.444G>C (p.Gln148His)
c.339G>C (p.Gln113His)
3g.122261962G>TCA354151651CASRc.927G>T (p.Gln309His)
c.444G>T (p.Gln148His)
c.339G>T (p.Gln113His)
3g.122261963T>ACA354151652CASRc.928T>A (p.Tyr310Asn)
c.445T>A (p.Tyr149Asn)
c.340T>A (p.Tyr114Asn)
3g.122261963T>CCA354151653CASRc.928T>C (p.Tyr310His)
c.445T>C (p.Tyr149His)
c.340T>C (p.Tyr114His)
3g.122261963T>GCA354151654CASRc.928T>G (p.Tyr310Asp)
c.445T>G (p.Tyr149Asp)
c.340T>G (p.Tyr114Asp)
3g.122261964A=CA1397873240CASRc.929A= (p.Tyr310=)
c.446A= (p.Tyr149=)
c.341A= (p.Tyr114=)
3g.122261964A>CCA354151655CASRc.929A>C (p.Tyr310Ser)
c.446A>C (p.Tyr149Ser)
c.341A>C (p.Tyr114Ser)
3g.122261964A>GCA354151656CASRc.929A>G (p.Tyr310Cys)
c.446A>G (p.Tyr149Cys)
c.341A>G (p.Tyr114Cys)
 ClinVar dbSNP
3g.122261964A>TCA82738659CASRc.929A>T (p.Tyr310Phe)
c.446A>T (p.Tyr149Phe)
c.341A>T (p.Tyr114Phe)
 dbSNP
3g.122261965C>ACA354151657CASRc.930C>A (p.Tyr310Ter)
c.447C>A (p.Tyr149Ter)
c.342C>A (p.Tyr114Ter)
3g.122261965C=CA1397873242CASRc.930C= (p.Tyr310=)
c.447C= (p.Tyr149=)
c.342C= (p.Tyr114=)
3g.122261965C>GCA354151658CASRc.930C>G (p.Tyr310Ter)
c.447C>G (p.Tyr149Ter)
c.342C>G (p.Tyr114Ter)
3g.122261965C>TCA2569563CASRc.930C>T (p.Tyr310=)
c.447C>T (p.Tyr149=)
c.342C>T (p.Tyr114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261966T>ACA354151661CASRc.931T>A (p.Phe311Ile)
c.448T>A (p.Phe150Ile)
c.343T>A (p.Phe115Ile)
3g.122261966T>CCA354151659CASRc.931T>C (p.Phe311Leu)
c.448T>C (p.Phe150Leu)
c.343T>C (p.Phe115Leu)
3g.122261966T>GCA354151660CASRc.931T>G (p.Phe311Val)
c.448T>G (p.Phe150Val)
c.343T>G (p.Phe115Val)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261967T>ACA354151662CASRc.932T>A (p.Phe311Tyr)
c.449T>A (p.Phe150Tyr)
c.344T>A (p.Phe115Tyr)
3g.122261967T>CCA354151663CASRc.932T>C (p.Phe311Ser)
c.449T>C (p.Phe150Ser)
c.344T>C (p.Phe115Ser)
 gnomAD v4
3g.122261967T>GCA354151664CASRc.932T>G (p.Phe311Cys)
c.449T>G (p.Phe150Cys)
c.344T>G (p.Phe115Cys)
3g.122261968C>ACA354151665CASRc.933C>A (p.Phe311Leu)
c.450C>A (p.Phe150Leu)
c.345C>A (p.Phe115Leu)
 ClinVar
3g.122261968C>GCA354151666CASRc.933C>G (p.Phe311Leu)
c.450C>G (p.Phe150Leu)
c.345C>G (p.Phe115Leu)
3g.122261968C>TCA435424629CASRc.933C>T (p.Phe311=)
c.450C>T (p.Phe150=)
c.345C>T (p.Phe115=)
3g.122261969C>ACA354151667CASRc.934C>A (p.His312Asn)
c.451C>A (p.His151Asn)
c.346C>A (p.His116Asn)
3g.122261969C>GCA354151668CASRc.934C>G (p.His312Asp)
c.451C>G (p.His151Asp)
c.346C>G (p.His116Asp)
3g.122261969C>TCA354151669CASRc.934C>T (p.His312Tyr)
c.451C>T (p.His151Tyr)
c.346C>T (p.His116Tyr)
3g.122261970A>CCA354151670CASRc.935A>C (p.His312Pro)
c.452A>C (p.His151Pro)
c.347A>C (p.His116Pro)
3g.122261970A>GCA354151671CASRc.935A>G (p.His312Arg)
c.452A>G (p.His151Arg)
c.347A>G (p.His116Arg)
3g.122261970A>TCA354151672CASRc.935A>T (p.His312Leu)
c.452A>T (p.His151Leu)
c.347A>T (p.His116Leu)
3g.122261971C>ACA354151673CASRc.936C>A (p.His312Gln)
c.453C>A (p.His151Gln)
c.348C>A (p.His116Gln)
3g.122261971C=CA1397873244CASRc.936C= (p.His312=)
c.453C= (p.His151=)
c.348C= (p.His116=)
3g.122261971C>GCA354151675CASRc.936C>G (p.His312Gln)
c.453C>G (p.His151Gln)
c.348C>G (p.His116Gln)
 ClinVar dbSNP gnomAD v4
3g.122261971C>TCA435424634CASRc.936C>T (p.His312=)
c.453C>T (p.His151=)
c.348C>T (p.His116=)
 ClinVar dbSNP gnomAD v4
3g.122261972G>ACA82738662CASRc.937G>A (p.Val313Met)
c.454G>A (p.Val152Met)
c.349G>A (p.Val117Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261972G>CCA354151679CASRc.937G>C (p.Val313Leu)
c.454G>C (p.Val152Leu)
c.349G>C (p.Val117Leu)
 gnomAD v4
3g.122261972G=CA1397873246CASRc.937G= (p.Val313=)
c.454G= (p.Val152=)
c.349G= (p.Val117=)
3g.122261972G>TCA354151677CASRc.937G>T (p.Val313Leu)
c.454G>T (p.Val152Leu)
c.349G>T (p.Val117Leu)
3g.122261973T>ACA354151680CASRc.938T>A (p.Val313Glu)
c.455T>A (p.Val152Glu)
c.350T>A (p.Val117Glu)
 ClinVar
3g.122261973T>CCA354151683CASRc.938T>C (p.Val313Ala)
c.455T>C (p.Val152Ala)
c.350T>C (p.Val117Ala)
 ClinVar
3g.122261973T>GCA354151681CASRc.938T>G (p.Val313Gly)
c.455T>G (p.Val152Gly)
c.350T>G (p.Val117Gly)
3g.122261974G>ACA2569564CASRc.939G>A (p.Val313=)
c.456G>A (p.Val152=)
c.351G>A (p.Val117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261974G>CCA435424641CASRc.939G>C (p.Val313=)
c.456G>C (p.Val152=)
c.351G>C (p.Val117=)
3g.122261974G=CA1397873248CASRc.939G= (p.Val313=)
c.456G= (p.Val152=)
c.351G= (p.Val117=)
3g.122261974G>TCA435424642CASRc.939G>T (p.Val313=)
c.456G>T (p.Val152=)
c.351G>T (p.Val117=)
3g.122261975G>ACA354151686CASRc.940G>A (p.Val314Ile)
c.457G>A (p.Val153Ile)
c.352G>A (p.Val118Ile)
3g.122261975G>CCA354151688CASRc.940G>C (p.Val314Leu)
c.457G>C (p.Val153Leu)
c.352G>C (p.Val118Leu)
3g.122261975G>TCA354151690CASRc.940G>T (p.Val314Phe)
c.457G>T (p.Val153Phe)
c.352G>T (p.Val118Phe)
3g.122261976T>ACA354151691CASRc.941T>A (p.Val314Asp)
c.458T>A (p.Val153Asp)
c.353T>A (p.Val118Asp)
3g.122261976T>CCA354151693CASRc.941T>C (p.Val314Ala)
c.458T>C (p.Val153Ala)
c.353T>C (p.Val118Ala)
3g.122261976T>GCA354151695CASRc.941T>G (p.Val314Gly)
c.458T>G (p.Val153Gly)
c.353T>G (p.Val118Gly)
3g.122261977T>ACA435424646CASRc.942T>A (p.Val314=)
c.459T>A (p.Val153=)
c.354T>A (p.Val118=)
3g.122261977T>CCA435424647CASRc.942T>C (p.Val314=)
c.459T>C (p.Val153=)
c.354T>C (p.Val118=)
 ClinVar dbSNP
3g.122261977T>GCA435424648CASRc.942T>G (p.Val314=)
c.459T>G (p.Val153=)
c.354T>G (p.Val118=)
 ClinVar
3g.122261978G>ACA354151697CASRc.943G>A (p.Gly315Ser)
c.460G>A (p.Gly154Ser)
c.355G>A (p.Gly119Ser)
3g.122261978G>CCA354151699CASRc.943G>C (p.Gly315Arg)
c.460G>C (p.Gly154Arg)
c.355G>C (p.Gly119Arg)
3g.122261978G>TCA354151702CASRc.943G>T (p.Gly315Cys)
c.460G>T (p.Gly154Cys)
c.355G>T (p.Gly119Cys)
3g.122261979G>ACA354151705CASRc.944G>A (p.Gly315Asp)
c.461G>A (p.Gly154Asp)
c.356G>A (p.Gly119Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261979G>CCA354151706CASRc.944G>C (p.Gly315Ala)
c.461G>C (p.Gly154Ala)
c.356G>C (p.Gly119Ala)
 ClinVar
3g.122261979G=CA1397873251CASRc.944G= (p.Gly315=)
c.461G= (p.Gly154=)
c.356G= (p.Gly119=)
3g.122261979G>TCA354151708CASRc.944G>T (p.Gly315Val)
c.461G>T (p.Gly154Val)
c.356G>T (p.Gly119Val)
3g.122261980C>ACA435424649CASRc.945C>A (p.Gly315=)
c.462C>A (p.Gly154=)
c.357C>A (p.Gly119=)
 ClinVar dbSNP
3g.122261980C=CA1397873253CASRc.945C= (p.Gly315=)
c.462C= (p.Gly154=)
c.357C= (p.Gly119=)
3g.122261980C>GCA435424650CASRc.945C>G (p.Gly315=)
c.462C>G (p.Gly154=)
c.357C>G (p.Gly119=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261980C>TCA82738673CASRc.945C>T (p.Gly315=)
c.462C>T (p.Gly154=)
c.357C>T (p.Gly119=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261981G>ACA2569565CASRc.946G>A (p.Gly316Ser)
c.463G>A (p.Gly155Ser)
c.358G>A (p.Gly120Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
3g.122261981G>CCA354151715CASRc.946G>C (p.Gly316Arg)
c.463G>C (p.Gly155Arg)
c.358G>C (p.Gly120Arg)
3g.122261981G=CA1397873255CASRc.946G= (p.Gly316=)
c.463G= (p.Gly155=)
c.358G= (p.Gly120=)
3g.122261981G>TCA354151713CASRc.946G>T (p.Gly316Cys)
c.463G>T (p.Gly155Cys)
c.358G>T (p.Gly120Cys)
3g.122261982G>ACA354151718CASRc.947G>A (p.Gly316Asp)
c.464G>A (p.Gly155Asp)
c.359G>A (p.Gly120Asp)
 dbSNP
3g.122261982G>CCA354151721CASRc.947G>C (p.Gly316Ala)
c.464G>C (p.Gly155Ala)
c.359G>C (p.Gly120Ala)
3g.122261982G=CA1397873257CASRc.947G= (p.Gly316=)
c.464G= (p.Gly155=)
c.359G= (p.Gly120=)
3g.122261982G>TCA354151723CASRc.947G>T (p.Gly316Val)
c.464G>T (p.Gly155Val)
c.359G>T (p.Gly120Val)
3g.122261983C>ACA435424653CASRc.948C>A (p.Gly316=)
c.465C>A (p.Gly155=)
c.360C>A (p.Gly120=)
3g.122261983C>GCA435424654CASRc.948C>G (p.Gly316=)
c.465C>G (p.Gly155=)
c.360C>G (p.Gly120=)
3g.122261983C>TCA435424655CASRc.948C>T (p.Gly316=)
c.465C>T (p.Gly155=)
c.360C>T (p.Gly120=)
 ClinVar dbSNP gnomAD v4
3g.122261984A>CCA354151727CASRc.949A>C (p.Thr317Pro)
c.466A>C (p.Thr156Pro)
c.361A>C (p.Thr121Pro)
3g.122261984A>GCA354151730CASRc.949A>G (p.Thr317Ala)
c.466A>G (p.Thr156Ala)
c.361A>G (p.Thr121Ala)
 ClinVar
3g.122261984A>TCA354151732CASRc.949A>T (p.Thr317Ser)
c.466A>T (p.Thr156Ser)
c.361A>T (p.Thr121Ser)
3g.122261985C>ACA354151736CASRc.950C>A (p.Thr317Asn)
c.467C>A (p.Thr156Asn)
c.362C>A (p.Thr121Asn)
3g.122261985C>GCA354151737CASRc.950C>G (p.Thr317Ser)
c.467C>G (p.Thr156Ser)
c.362C>G (p.Thr121Ser)
3g.122261985C>TCA354151740CASRc.950C>T (p.Thr317Ile)
c.467C>T (p.Thr156Ile)
c.362C>T (p.Thr121Ile)
3g.122261986C>ACA435424660CASRc.951C>A (p.Thr317=)
c.468C>A (p.Thr156=)
c.363C>A (p.Thr121=)
3g.122261986C=CA1397873259CASRc.951C= (p.Thr317=)
c.468C= (p.Thr156=)
c.363C= (p.Thr121=)
3g.122261986C>GCA435424661CASRc.951C>G (p.Thr317=)
c.468C>G (p.Thr156=)
c.363C>G (p.Thr121=)
3g.122261986C>TCA435424662CASRc.951C>T (p.Thr317=)
c.468C>T (p.Thr156=)
c.363C>T (p.Thr121=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261987A=CA1397873260CASRc.952A= (p.Ile318=)
c.469A= (p.Ile157=)
c.364A= (p.Ile122=)
3g.122261987A>CCA354151747CASRc.952A>C (p.Ile318Leu)
c.469A>C (p.Ile157Leu)
c.364A>C (p.Ile122Leu)
3g.122261987A>GCA2569566CASRc.952A>G (p.Ile318Val)
c.469A>G (p.Ile157Val)
c.364A>G (p.Ile122Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261987A>TCA354151743CASRc.952A>T (p.Ile318Phe)
c.469A>T (p.Ile157Phe)
c.364A>T (p.Ile122Phe)

Number of alleles fetched