Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261834A>CCA354151379CASRc.799A>C (p.Ile267Leu)
c.316A>C (p.Ile106Leu)
c.211A>C (p.Ile71Leu)
3g.122261834A>GCA354151380CASRc.799A>G (p.Ile267Val)
c.316A>G (p.Ile106Val)
c.211A>G (p.Ile71Val)
3g.122261834A>TCA354151381CASRc.799A>T (p.Ile267Phe)
c.316A>T (p.Ile106Phe)
c.211A>T (p.Ile71Phe)
3g.122261835T>ACA354151383CASRc.800T>A (p.Ile267Asn)
c.317T>A (p.Ile106Asn)
c.212T>A (p.Ile71Asn)
3g.122261835T>CCA354151384CASRc.800T>C (p.Ile267Thr)
c.317T>C (p.Ile106Thr)
c.212T>C (p.Ile71Thr)
3g.122261835T>GCA354151382CASRc.800T>G (p.Ile267Ser)
c.317T>G (p.Ile106Ser)
c.212T>G (p.Ile71Ser)
3g.122261836C>ACA2569537CASRc.801C>A (p.Ile267=)
c.318C>A (p.Ile106=)
c.213C>A (p.Ile71=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261836C=CA1397873109CASRc.801C= (p.Ile267=)
c.318C= (p.Ile106=)
c.213C= (p.Ile71=)
3g.122261836C>GCA354151385CASRc.801C>G (p.Ile267Met)
c.318C>G (p.Ile106Met)
c.213C>G (p.Ile71Met)
3g.122261836C>TCA82738553CASRc.801C>T (p.Ile267=)
c.318C>T (p.Ile106=)
c.213C>T (p.Ile71=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261837G>ACA354151386CASRc.802G>A (p.Val268Met)
c.319G>A (p.Val107Met)
c.214G>A (p.Val72Met)
 ClinVar dbSNP gnomAD v4
3g.122261837G>CCA354151388CASRc.802G>C (p.Val268Leu)
c.319G>C (p.Val107Leu)
c.214G>C (p.Val72Leu)
3g.122261837G=CA1397873111CASRc.802G= (p.Val268=)
c.319G= (p.Val107=)
c.214G= (p.Val72=)
3g.122261837G>TCA354151387CASRc.802G>T (p.Val268Leu)
c.319G>T (p.Val107Leu)
c.214G>T (p.Val72Leu)
 gnomAD v4
3g.122261838T>ACA354151389CASRc.803T>A (p.Val268Glu)
c.320T>A (p.Val107Glu)
c.215T>A (p.Val72Glu)
3g.122261838T>CCA354151390CASRc.803T>C (p.Val268Ala)
c.320T>C (p.Val107Ala)
c.215T>C (p.Val72Ala)
3g.122261838T>GCA354151391CASRc.803T>G (p.Val268Gly)
c.320T>G (p.Val107Gly)
c.215T>G (p.Val72Gly)
3g.122261839G>ACA435424398CASRc.804G>A (p.Val268=)
c.321G>A (p.Val107=)
c.216G>A (p.Val72=)
3g.122261839G>CCA435424401CASRc.804G>C (p.Val268=)
c.321G>C (p.Val107=)
c.216G>C (p.Val72=)
3g.122261839G>TCA435424400CASRc.804G>T (p.Val268=)
c.321G>T (p.Val107=)
c.216G>T (p.Val72=)
3g.122261840_122261850delCA2586972805CASRc.805_815del (p.Val269TrpfsTer5)
c.322_332del (p.Val108TrpfsTer5)
c.217_227del (p.Val73TrpfsTer5)
3g.122261840G>ACA354151392CASRc.805G>A (p.Val269Ile)
c.322G>A (p.Val108Ile)
c.217G>A (p.Val73Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.122261840G>CCA354151393CASRc.805G>C (p.Val269Leu)
c.322G>C (p.Val108Leu)
c.217G>C (p.Val73Leu)
3g.122261840G=CA1397873113CASRc.805G= (p.Val269=)
c.322G= (p.Val108=)
c.217G= (p.Val73=)
3g.122261840G>TCA354151394CASRc.805G>T (p.Val269Phe)
c.322G>T (p.Val108Phe)
c.217G>T (p.Val73Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.122261841T>ACA354151395CASRc.806T>A (p.Val269Asp)
c.323T>A (p.Val108Asp)
c.218T>A (p.Val73Asp)
3g.122261841T>CCA354151396CASRc.806T>C (p.Val269Ala)
c.323T>C (p.Val108Ala)
c.218T>C (p.Val73Ala)
3g.122261841T>GCA354151397CASRc.806T>G (p.Val269Gly)
c.323T>G (p.Val108Gly)
c.218T>G (p.Val73Gly)
3g.122261842T>ACA435424405CASRc.807T>A (p.Val269=)
c.324T>A (p.Val108=)
c.219T>A (p.Val73=)
3g.122261842T>CCA435424406CASRc.807T>C (p.Val269=)
c.324T>C (p.Val108=)
c.219T>C (p.Val73=)
3g.122261842T>GCA435424407CASRc.807T>G (p.Val269=)
c.324T>G (p.Val108=)
c.219T>G (p.Val73=)
3g.122261843T>ACA354151398CASRc.808T>A (p.Phe270Ile)
c.325T>A (p.Phe109Ile)
c.220T>A (p.Phe74Ile)
3g.122261843T>CCA354151399CASRc.808T>C (p.Phe270Leu)
c.325T>C (p.Phe109Leu)
c.220T>C (p.Phe74Leu)
 COSMIC
3g.122261843T>GCA354151400CASRc.808T>G (p.Phe270Val)
c.325T>G (p.Phe109Val)
c.220T>G (p.Phe74Val)
3g.122261844T>ACA354151401CASRc.809T>A (p.Phe270Tyr)
c.326T>A (p.Phe109Tyr)
c.221T>A (p.Phe74Tyr)
 gnomAD v4
3g.122261844T>CCA354151403CASRc.809T>C (p.Phe270Ser)
c.326T>C (p.Phe109Ser)
c.221T>C (p.Phe74Ser)
3g.122261844T>GCA354151402CASRc.809T>G (p.Phe270Cys)
c.326T>G (p.Phe109Cys)
c.221T>G (p.Phe74Cys)
3g.122261845C>ACA354151404CASRc.810C>A (p.Phe270Leu)
c.327C>A (p.Phe109Leu)
c.222C>A (p.Phe74Leu)
 gnomAD v4
3g.122261845C>GCA354151405CASRc.810C>G (p.Phe270Leu)
c.327C>G (p.Phe109Leu)
c.222C>G (p.Phe74Leu)
3g.122261845C>TCA435424410CASRc.810C>T (p.Phe270=)
c.327C>T (p.Phe109=)
c.222C>T (p.Phe74=)
3g.122261846T>ACA354151406CASRc.811T>A (p.Ser271Thr)
c.328T>A (p.Ser110Thr)
c.223T>A (p.Ser75Thr)
3g.122261846T>CCA354151407CASRc.811T>C (p.Ser271Pro)
c.328T>C (p.Ser110Pro)
c.223T>C (p.Ser75Pro)
 ClinVar gnomAD v4
3g.122261846T>GCA354151408CASRc.811T>G (p.Ser271Ala)
c.328T>G (p.Ser110Ala)
c.223T>G (p.Ser75Ala)
3g.122261847C>ACA354151409CASRc.812C>A (p.Ser271Tyr)
c.329C>A (p.Ser110Tyr)
c.224C>A (p.Ser75Tyr)
3g.122261847C>GCA354151410CASRc.812C>G (p.Ser271Cys)
c.329C>G (p.Ser110Cys)
c.224C>G (p.Ser75Cys)
3g.122261847C>TCA354151411CASRc.812C>T (p.Ser271Phe)
c.329C>T (p.Ser110Phe)
c.224C>T (p.Ser75Phe)
 COSMIC
3g.122261848C>ACA2569538CASRc.813C>A (p.Ser271=)
c.330C>A (p.Ser110=)
c.225C>A (p.Ser75=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261848C=CA1397873115CASRc.813C= (p.Ser271=)
c.330C= (p.Ser110=)
c.225C= (p.Ser75=)
3g.122261848C>GCA435424416CASRc.813C>G (p.Ser271=)
c.330C>G (p.Ser110=)
c.225C>G (p.Ser75=)
3g.122261848C>TCA435424418CASRc.813C>T (p.Ser271=)
c.330C>T (p.Ser110=)
c.225C>T (p.Ser75=)
3g.122261849A=CA1397873116CASRc.814A= (p.Ser272=)
c.331A= (p.Ser111=)
c.226A= (p.Ser76=)
3g.122261849A>CCA354151413CASRc.814A>C (p.Ser272Arg)
c.331A>C (p.Ser111Arg)
c.226A>C (p.Ser76Arg)
3g.122261849A>GCA2569539CASRc.814A>G (p.Ser272Gly)
c.331A>G (p.Ser111Gly)
c.226A>G (p.Ser76Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261849A>TCA354151412CASRc.814A>T (p.Ser272Cys)
c.331A>T (p.Ser111Cys)
c.226A>T (p.Ser76Cys)
3g.122261850G>ACA354151414CASRc.815G>A (p.Ser272Asn)
c.332G>A (p.Ser111Asn)
c.227G>A (p.Ser76Asn)
 ClinVar dbSNP
3g.122261850G>CCA354151415CASRc.815G>C (p.Ser272Thr)
c.332G>C (p.Ser111Thr)
c.227G>C (p.Ser76Thr)
3g.122261850G=CA1397873118CASRc.815G= (p.Ser272=)
c.332G= (p.Ser111=)
c.227G= (p.Ser76=)
3g.122261850G>TCA354151416CASRc.815G>T (p.Ser272Ile)
c.332G>T (p.Ser111Ile)
c.227G>T (p.Ser76Ile)
3g.122261851T>ACA354151417CASRc.816T>A (p.Ser272Arg)
c.333T>A (p.Ser111Arg)
c.228T>A (p.Ser76Arg)
 ClinVar dbSNP
3g.122261851T>CCA435424420CASRc.816T>C (p.Ser272=)
c.333T>C (p.Ser111=)
c.228T>C (p.Ser76=)
 ClinVar
3g.122261851T>GCA354151418CASRc.816T>G (p.Ser272Arg)
c.333T>G (p.Ser111Arg)
c.228T>G (p.Ser76Arg)
3g.122261851_122261853delinsTGGCA1397873120CASRc.816_818delinsTGG (p.Ser272=)
c.333_335delinsTGG (p.Ser111=)
c.228_230delinsTGG (p.Ser76=)
3g.122261852G>ACA354151419CASRc.817G>A (p.Gly273Ser)
c.334G>A (p.Gly112Ser)
c.229G>A (p.Gly77Ser)
3g.122261852G>CCA354151420CASRc.817G>C (p.Gly273Arg)
c.334G>C (p.Gly112Arg)
c.229G>C (p.Gly77Arg)
3g.122261852G>TCA354151421CASRc.817G>T (p.Gly273Cys)
c.334G>T (p.Gly112Cys)
c.229G>T (p.Gly77Cys)
3g.122261852_122261853delCA2569540CASRc.817_818del (p.Gly273ProfsTer4)
c.334_335del (p.Gly112ProfsTer4)
c.229_230del (p.Gly77ProfsTer4)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261853G>ACA354151422CASRc.818G>A (p.Gly273Asp)
c.335G>A (p.Gly112Asp)
c.230G>A (p.Gly77Asp)
3g.122261853G>CCA354151423CASRc.818G>C (p.Gly273Ala)
c.335G>C (p.Gly112Ala)
c.230G>C (p.Gly77Ala)
 ClinVar dbSNP
3g.122261853G=CA1397873122CASRc.818G= (p.Gly273=)
c.335G= (p.Gly112=)
c.230G= (p.Gly77=)
3g.122261853G>TCA354151424CASRc.818G>T (p.Gly273Val)
c.335G>T (p.Gly112Val)
c.230G>T (p.Gly77Val)
3g.122261854C>ACA435424423CASRc.819C>A (p.Gly273=)
c.336C>A (p.Gly112=)
c.231C>A (p.Gly77=)
3g.122261854C>GCA435424422CASRc.819C>G (p.Gly273=)
c.336C>G (p.Gly112=)
c.231C>G (p.Gly77=)
3g.122261854C>TCA435424421CASRc.819C>T (p.Gly273=)
c.336C>T (p.Gly112=)
c.231C>T (p.Gly77=)
 ClinVar dbSNP gnomAD v4
3g.122261855C>ACA354151427CASRc.820C>A (p.Pro274Thr)
c.337C>A (p.Pro113Thr)
c.232C>A (p.Pro78Thr)
 ClinVar
3g.122261855C=CA1397873123CASRc.820C= (p.Pro274=)
c.337C= (p.Pro113=)
c.232C= (p.Pro78=)
3g.122261855C>GCA354151425CASRc.820C>G (p.Pro274Ala)
c.337C>G (p.Pro113Ala)
c.232C>G (p.Pro78Ala)
 ClinVar
3g.122261855C>TCA354151426CASRc.820C>T (p.Pro274Ser)
c.337C>T (p.Pro113Ser)
c.232C>T (p.Pro78Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261856C>ACA354151428CASRc.821C>A (p.Pro274Gln)
c.338C>A (p.Pro113Gln)
c.233C>A (p.Pro78Gln)
3g.122261856C=CA1397873125CASRc.821C= (p.Pro274=)
c.338C= (p.Pro113=)
c.233C= (p.Pro78=)
3g.122261856C>GCA354151429CASRc.821C>G (p.Pro274Arg)
c.338C>G (p.Pro113Arg)
c.233C>G (p.Pro78Arg)
3g.122261856C>TCA82738561CASRc.821C>T (p.Pro274Leu)
c.338C>T (p.Pro113Leu)
c.233C>T (p.Pro78Leu)
 ClinVar dbSNP gnomAD v4
3g.122261856_122261858delinsCAGCA1397873124CASRc.821_823delinsCAG (p.Pro274=)
c.338_340delinsCAG (p.Pro113=)
c.233_235delinsCAG (p.Pro78=)
3g.122261857A=CA1397873128CASRc.822A= (p.Pro274=)
c.339A= (p.Pro113=)
c.234A= (p.Pro78=)
3g.122261857A>CCA435424428CASRc.822A>C (p.Pro274=)
c.339A>C (p.Pro113=)
c.234A>C (p.Pro78=)
 dbSNP
3g.122261857A>GCA435424426CASRc.822A>G (p.Pro274=)
c.339A>G (p.Pro113=)
c.234A>G (p.Pro78=)
3g.122261857A>TCA435424425CASRc.822A>T (p.Pro274=)
c.339A>T (p.Pro113=)
c.234A>T (p.Pro78=)
3g.122261858_122261859delCA658657326CASRc.823_824del (p.Asp275SerfsTer2)
c.340_341del (p.Asp114SerfsTer2)
c.235_236del (p.Asp79SerfsTer2)
 ClinVar dbSNP
3g.122261858G>ACA354151430CASRc.823G>A (p.Asp275Asn)
c.340G>A (p.Asp114Asn)
c.235G>A (p.Asp79Asn)
 COSMIC
3g.122261858G>CCA354151431CASRc.823G>C (p.Asp275His)
c.340G>C (p.Asp114His)
c.235G>C (p.Asp79His)
3g.122261858G=CA1397873130CASRc.823G= (p.Asp275=)
c.340G= (p.Asp114=)
c.235G= (p.Asp79=)
3g.122261858G>TCA354151432CASRc.823G>T (p.Asp275Tyr)
c.340G>T (p.Asp114Tyr)
c.235G>T (p.Asp79Tyr)
 dbSNP gnomAD v3 gnomAD v4
3g.122261859A>CCA354151433CASRc.824A>C (p.Asp275Ala)
c.341A>C (p.Asp114Ala)
c.236A>C (p.Asp79Ala)
3g.122261859A>GCA354151434CASRc.824A>G (p.Asp275Gly)
c.341A>G (p.Asp114Gly)
c.236A>G (p.Asp79Gly)
3g.122261859A>TCA354151435CASRc.824A>T (p.Asp275Val)
c.341A>T (p.Asp114Val)
c.236A>T (p.Asp79Val)
3g.122261860T>ACA354151436CASRc.825T>A (p.Asp275Glu)
c.342T>A (p.Asp114Glu)
c.237T>A (p.Asp79Glu)
3g.122261860T>CCA2569541CASRc.825T>C (p.Asp275=)
c.342T>C (p.Asp114=)
c.237T>C (p.Asp79=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261860T>GCA354151437CASRc.825T>G (p.Asp275Glu)
c.342T>G (p.Asp114Glu)
c.237T>G (p.Asp79Glu)
3g.122261860T=CA1397873131CASRc.825T= (p.Asp275=)
c.342T= (p.Asp114=)
c.237T= (p.Asp79=)
3g.122261861C>ACA354151440CASRc.826C>A (p.Leu276Ile)
c.343C>A (p.Leu115Ile)
c.238C>A (p.Leu80Ile)
 ClinVar gnomAD v4
3g.122261861C>GCA354151439CASRc.826C>G (p.Leu276Val)
c.343C>G (p.Leu115Val)
c.238C>G (p.Leu80Val)
3g.122261861C>TCA354151438CASRc.826C>T (p.Leu276Phe)
c.343C>T (p.Leu115Phe)
c.238C>T (p.Leu80Phe)
 COSMIC
3g.122261862T>ACA354151441CASRc.827T>A (p.Leu276His)
c.344T>A (p.Leu115His)
c.239T>A (p.Leu80His)
3g.122261862T>CCA354151443CASRc.827T>C (p.Leu276Pro)
c.344T>C (p.Leu115Pro)
c.239T>C (p.Leu80Pro)
3g.122261862T>GCA354151442CASRc.827T>G (p.Leu276Arg)
c.344T>G (p.Leu115Arg)
c.239T>G (p.Leu80Arg)
3g.122261863T>ACA435424432CASRc.828T>A (p.Leu276=)
c.345T>A (p.Leu115=)
c.240T>A (p.Leu80=)
3g.122261863T>CCA2569542CASRc.828T>C (p.Leu276=)
c.345T>C (p.Leu115=)
c.240T>C (p.Leu80=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261863T>GCA435424434CASRc.828T>G (p.Leu276=)
c.345T>G (p.Leu115=)
c.240T>G (p.Leu80=)
3g.122261863T=CA1397873133CASRc.828T= (p.Leu276=)
c.345T= (p.Leu115=)
c.240T= (p.Leu80=)
3g.122261864G>ACA82738571CASRc.829G>A (p.Glu277Lys)
c.346G>A (p.Glu116Lys)
c.241G>A (p.Glu81Lys)
 dbSNP
3g.122261864G>CCA82738575CASRc.829G>C (p.Glu277Gln)
c.346G>C (p.Glu116Gln)
c.241G>C (p.Glu81Gln)
 ClinVar dbSNP
3g.122261864G=CA1397873135CASRc.829G= (p.Glu277=)
c.346G= (p.Glu116=)
c.241G= (p.Glu81=)
3g.122261864G>TCA354151444CASRc.829G>T (p.Glu277Ter)
c.346G>T (p.Glu116Ter)
c.241G>T (p.Glu81Ter)
3g.122261865A>CCA354151445CASRc.830A>C (p.Glu277Ala)
c.347A>C (p.Glu116Ala)
c.242A>C (p.Glu81Ala)
3g.122261865A>GCA354151446CASRc.830A>G (p.Glu277Gly)
c.347A>G (p.Glu116Gly)
c.242A>G (p.Glu81Gly)
3g.122261865A>TCA354151447CASRc.830A>T (p.Glu277Val)
c.347A>T (p.Glu116Val)
c.242A>T (p.Glu81Val)
3g.122261866G>ACA435424435CASRc.831G>A (p.Glu277=)
c.348G>A (p.Glu116=)
c.243G>A (p.Glu81=)
 ClinVar dbSNP
3g.122261866G>CCA354151448CASRc.831G>C (p.Glu277Asp)
c.348G>C (p.Glu116Asp)
c.243G>C (p.Glu81Asp)
 ClinVar
3g.122261866G>TCA354151449CASRc.831G>T (p.Glu277Asp)
c.348G>T (p.Glu116Asp)
c.243G>T (p.Glu81Asp)
3g.122261867C>ACA354151450CASRc.832C>A (p.Pro278Thr)
c.349C>A (p.Pro117Thr)
c.244C>A (p.Pro82Thr)
3g.122261867C=CA1397873136CASRc.832C= (p.Pro278=)
c.349C= (p.Pro117=)
c.244C= (p.Pro82=)
3g.122261867C>GCA354151451CASRc.832C>G (p.Pro278Ala)
c.349C>G (p.Pro117Ala)
c.244C>G (p.Pro82Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261867C>TCA354151452CASRc.832C>T (p.Pro278Ser)
c.349C>T (p.Pro117Ser)
c.244C>T (p.Pro82Ser)
3g.122261868C>ACA354151455CASRc.833C>A (p.Pro278His)
c.350C>A (p.Pro117His)
c.245C>A (p.Pro82His)
3g.122261868C>GCA354151453CASRc.833C>G (p.Pro278Arg)
c.350C>G (p.Pro117Arg)
c.245C>G (p.Pro82Arg)
3g.122261868C>TCA354151454CASRc.833C>T (p.Pro278Leu)
c.350C>T (p.Pro117Leu)
c.245C>T (p.Pro82Leu)
 ClinVar COSMIC
3g.122261869C>ACA435424437CASRc.834C>A (p.Pro278=)
c.351C>A (p.Pro117=)
c.246C>A (p.Pro82=)
3g.122261869C>GCA435424438CASRc.834C>G (p.Pro278=)
c.351C>G (p.Pro117=)
c.246C>G (p.Pro82=)
3g.122261869C>TCA435424439CASRc.834C>T (p.Pro278=)
c.351C>T (p.Pro117=)
c.246C>T (p.Pro82=)
 ClinVar
3g.122261870C>ACA354151456CASRc.835C>A (p.Leu279Ile)
c.352C>A (p.Leu118Ile)
c.247C>A (p.Leu83Ile)
3g.122261870C=CA1397873137CASRc.835C= (p.Leu279=)
c.352C= (p.Leu118=)
c.247C= (p.Leu83=)
3g.122261870C>GCA2569543CASRc.835C>G (p.Leu279Val)
c.352C>G (p.Leu118Val)
c.247C>G (p.Leu83Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261870C>TCA354151457CASRc.835C>T (p.Leu279Phe)
c.352C>T (p.Leu118Phe)
c.247C>T (p.Leu83Phe)
 ClinVar
3g.122261871T>ACA354151458CASRc.836T>A (p.Leu279His)
c.353T>A (p.Leu118His)
c.248T>A (p.Leu83His)
3g.122261871T>CCA354151459CASRc.836T>C (p.Leu279Pro)
c.353T>C (p.Leu118Pro)
c.248T>C (p.Leu83Pro)
3g.122261871T>GCA354151460CASRc.836T>G (p.Leu279Arg)
c.353T>G (p.Leu118Arg)
c.248T>G (p.Leu83Arg)
 ClinVar dbSNP
3g.122261871T=CA1397873139CASRc.836T= (p.Leu279=)
c.353T= (p.Leu118=)
c.248T= (p.Leu83=)
3g.122261872C>ACA435424440CASRc.837C>A (p.Leu279=)
c.354C>A (p.Leu118=)
c.249C>A (p.Leu83=)
3g.122261872C>GCA435424441CASRc.837C>G (p.Leu279=)
c.354C>G (p.Leu118=)
c.249C>G (p.Leu83=)
3g.122261872C>TCA435424442CASRc.837C>T (p.Leu279=)
c.354C>T (p.Leu118=)
c.249C>T (p.Leu83=)
3g.122261873A>CCA354151461CASRc.838A>C (p.Ile280Leu)
c.355A>C (p.Ile119Leu)
c.250A>C (p.Ile84Leu)
3g.122261873A>GCA354151462CASRc.838A>G (p.Ile280Val)
c.355A>G (p.Ile119Val)
c.250A>G (p.Ile84Val)
3g.122261873A>TCA354151463CASRc.838A>T (p.Ile280Phe)
c.355A>T (p.Ile119Phe)
c.250A>T (p.Ile84Phe)
3g.122261874T>ACA354151464CASRc.839T>A (p.Ile280Asn)
c.356T>A (p.Ile119Asn)
c.251T>A (p.Ile84Asn)
 ClinVar dbSNP
3g.122261874T>CCA354151465CASRc.839T>C (p.Ile280Thr)
c.356T>C (p.Ile119Thr)
c.251T>C (p.Ile84Thr)
3g.122261874T>GCA354151466CASRc.839T>G (p.Ile280Ser)
c.356T>G (p.Ile119Ser)
c.251T>G (p.Ile84Ser)
3g.122261874T=CA1397873141CASRc.839T= (p.Ile280=)
c.356T= (p.Ile119=)
c.251T= (p.Ile84=)
3g.122261875C>ACA435424444CASRc.840C>A (p.Ile280=)
c.357C>A (p.Ile119=)
c.252C>A (p.Ile84=)
3g.122261875C=CA1397873143CASRc.840C= (p.Ile280=)
c.357C= (p.Ile119=)
c.252C= (p.Ile84=)
3g.122261875C>GCA354151467CASRc.840C>G (p.Ile280Met)
c.357C>G (p.Ile119Met)
c.252C>G (p.Ile84Met)
3g.122261875C>TCA82738581CASRc.840C>T (p.Ile280=)
c.357C>T (p.Ile119=)
c.252C>T (p.Ile84=)
 ClinVar dbSNP gnomAD v4
3g.122261876A>CCA354151468CASRc.841A>C (p.Lys281Gln)
c.358A>C (p.Lys120Gln)
c.253A>C (p.Lys85Gln)
3g.122261876A>GCA354151469CASRc.841A>G (p.Lys281Glu)
c.358A>G (p.Lys120Glu)
c.253A>G (p.Lys85Glu)
3g.122261876A>TCA354151470CASRc.841A>T (p.Lys281Ter)
c.358A>T (p.Lys120Ter)
c.253A>T (p.Lys85Ter)
3g.122261877A>CCA354151471CASRc.842A>C (p.Lys281Thr)
c.359A>C (p.Lys120Thr)
c.254A>C (p.Lys85Thr)
3g.122261877A>GCA354151472CASRc.842A>G (p.Lys281Arg)
c.359A>G (p.Lys120Arg)
c.254A>G (p.Lys85Arg)
3g.122261877A>TCA354151473CASRc.842A>T (p.Lys281Met)
c.359A>T (p.Lys120Met)
c.254A>T (p.Lys85Met)
3g.122261878G>ACA435424447CASRc.843G>A (p.Lys281=)
c.360G>A (p.Lys120=)
c.255G>A (p.Lys85=)
3g.122261878G>CCA354151475CASRc.843G>C (p.Lys281Asn)
c.360G>C (p.Lys120Asn)
c.255G>C (p.Lys85Asn)
3g.122261878G>TCA354151474CASRc.843G>T (p.Lys281Asn)
c.360G>T (p.Lys120Asn)
c.255G>T (p.Lys85Asn)
3g.122261879G>ACA354151476CASRc.844G>A (p.Glu282Lys)
c.361G>A (p.Glu121Lys)
c.256G>A (p.Glu86Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261879G>CCA354151477CASRc.844G>C (p.Glu282Gln)
c.361G>C (p.Glu121Gln)
c.256G>C (p.Glu86Gln)
3g.122261879G=CA1397873145CASRc.844G= (p.Glu282=)
c.361G= (p.Glu121=)
c.256G= (p.Glu86=)
3g.122261879G>TCA354151478CASRc.844G>T (p.Glu282Ter)
c.361G>T (p.Glu121Ter)
c.256G>T (p.Glu86Ter)
3g.122261880A=CA1397873147CASRc.845A= (p.Glu282=)
c.362A= (p.Glu121=)
c.257A= (p.Glu86=)
3g.122261880A>CCA354151479CASRc.845A>C (p.Glu282Ala)
c.362A>C (p.Glu121Ala)
c.257A>C (p.Glu86Ala)
3g.122261880A>GCA2569544CASRc.845A>G (p.Glu282Gly)
c.362A>G (p.Glu121Gly)
c.257A>G (p.Glu86Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261880A>TCA354151480CASRc.845A>T (p.Glu282Val)
c.362A>T (p.Glu121Val)
c.257A>T (p.Glu86Val)
3g.122261881G>ACA82738589CASRc.846G>A (p.Glu282=)
c.363G>A (p.Glu121=)
c.258G>A (p.Glu86=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122261881G>CCA82738592CASRc.846G>C (p.Glu282Asp)
c.363G>C (p.Glu121Asp)
c.258G>C (p.Glu86Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122261881G=CA1397873150CASRc.846G= (p.Glu282=)
c.363G= (p.Glu121=)
c.258G= (p.Glu86=)
3g.122261881G>TCA354151481CASRc.846G>T (p.Glu282Asp)
c.363G>T (p.Glu121Asp)
c.258G>T (p.Glu86Asp)
3g.122261882A>CCA354151482CASRc.847A>C (p.Ile283Leu)
c.364A>C (p.Ile122Leu)
c.259A>C (p.Ile87Leu)
3g.122261882A>GCA354151483CASRc.847A>G (p.Ile283Val)
c.364A>G (p.Ile122Val)
c.259A>G (p.Ile87Val)
3g.122261882A>TCA354151484CASRc.847A>T (p.Ile283Phe)
c.364A>T (p.Ile122Phe)
c.259A>T (p.Ile87Phe)
3g.122261883T>ACA354151485CASRc.848T>A (p.Ile283Asn)
c.365T>A (p.Ile122Asn)
c.260T>A (p.Ile87Asn)
3g.122261883T>CCA2569545CASRc.848T>C (p.Ile283Thr)
c.365T>C (p.Ile122Thr)
c.260T>C (p.Ile87Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261883T>GCA354151486CASRc.848T>G (p.Ile283Ser)
c.365T>G (p.Ile122Ser)
c.260T>G (p.Ile87Ser)
3g.122261883T=CA1397873152CASRc.848T= (p.Ile283=)
c.365T= (p.Ile122=)
c.260T= (p.Ile87=)
3g.122261884T>ACA435424450CASRc.849T>A (p.Ile283=)
c.366T>A (p.Ile122=)
c.261T>A (p.Ile87=)
 ClinVar
3g.122261884T>CCA435424451CASRc.849T>C (p.Ile283=)
c.366T>C (p.Ile122=)
c.261T>C (p.Ile87=)
 ClinVar dbSNP
3g.122261884T>GCA354151487CASRc.849T>G (p.Ile283Met)
c.366T>G (p.Ile122Met)
c.261T>G (p.Ile87Met)
3g.122261884T=CA1397873154CASRc.849T= (p.Ile283=)
c.366T= (p.Ile122=)
c.261T= (p.Ile87=)
3g.122261885G>ACA354151488CASRc.850G>A (p.Val284Ile)
c.367G>A (p.Val123Ile)
c.262G>A (p.Val88Ile)
 ClinVar
3g.122261885G>CCA354151489CASRc.850G>C (p.Val284Leu)
c.367G>C (p.Val123Leu)
c.262G>C (p.Val88Leu)
3g.122261885G>TCA354151490CASRc.850G>T (p.Val284Phe)
c.367G>T (p.Val123Phe)
c.262G>T (p.Val88Phe)
 gnomAD v4 COSMIC
3g.122261886T>ACA354151493CASRc.851T>A (p.Val284Asp)
c.368T>A (p.Val123Asp)
c.263T>A (p.Val88Asp)
 gnomAD v4
3g.122261886T>CCA354151492CASRc.851T>C (p.Val284Ala)
c.368T>C (p.Val123Ala)
c.263T>C (p.Val88Ala)
 ClinVar dbSNP
3g.122261886T>GCA354151491CASRc.851T>G (p.Val284Gly)
c.368T>G (p.Val123Gly)
c.263T>G (p.Val88Gly)
3g.122261886T=CA1397873157CASRc.851T= (p.Val284=)
c.368T= (p.Val123=)
c.263T= (p.Val88=)
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=)
 ClinVar 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=)
 ClinVar
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)
 ClinVar 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

Number of alleles fetched