Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261643A>CCA354150955CASRc.608A>C (p.Tyr203Ser)
c.125A>C (p.Tyr42Ser)
c.20A>C (p.Tyr7Ser)
3g.122261643A>GCA354150956CASRc.608A>G (p.Tyr203Cys)
c.125A>G (p.Tyr42Cys)
c.20A>G (p.Tyr7Cys)
3g.122261643A>TCA354150957CASRc.608A>T (p.Tyr203Phe)
c.125A>T (p.Tyr42Phe)
c.20A>T (p.Tyr7Phe)
3g.122261644T>ACA354150958CASRc.609T>A (p.Tyr203Ter)
c.126T>A (p.Tyr42Ter)
c.21T>A (p.Tyr7Ter)
3g.122261644T>CCA435424191CASRc.609T>C (p.Tyr203=)
c.126T>C (p.Tyr42=)
c.21T>C (p.Tyr7=)
3g.122261644T>GCA354150959CASRc.609T>G (p.Tyr203Ter)
c.126T>G (p.Tyr42Ter)
c.21T>G (p.Tyr7Ter)
3g.122261646dupCA2825001189CASRc.611dup (p.Arg205ProfsTer11)
c.128dup (p.Arg44ProfsTer11)
c.23dup (p.Arg9ProfsTer11)
 ClinVar
3g.122261645T>ACA16609439CASRc.610T>A (p.Phe204Ile)
c.127T>A (p.Phe43Ile)
c.22T>A (p.Phe8Ile)
 ClinVar dbSNP
3g.122261645T>CCA354150960CASRc.610T>C (p.Phe204Leu)
c.127T>C (p.Phe43Leu)
c.22T>C (p.Phe8Leu)
 ClinVar dbSNP gnomAD v4
3g.122261645T>GCA354150961CASRc.610T>G (p.Phe204Val)
c.127T>G (p.Phe43Val)
c.22T>G (p.Phe8Val)
3g.122261645T=CA1397872934CASRc.610T= (p.Phe204=)
c.127T= (p.Phe43=)
c.22T= (p.Phe8=)
3g.122261646T>ACA354150964CASRc.611T>A (p.Phe204Tyr)
c.128T>A (p.Phe43Tyr)
c.23T>A (p.Phe8Tyr)
3g.122261646T>CCA354150962CASRc.611T>C (p.Phe204Ser)
c.128T>C (p.Phe43Ser)
c.23T>C (p.Phe8Ser)
3g.122261646T>GCA354150963CASRc.611T>G (p.Phe204Cys)
c.128T>G (p.Phe43Cys)
c.23T>G (p.Phe8Cys)
3g.122261647C>ACA354150965CASRc.612C>A (p.Phe204Leu)
c.129C>A (p.Phe43Leu)
c.24C>A (p.Phe8Leu)
3g.122261647C>GCA354150966CASRc.612C>G (p.Phe204Leu)
c.129C>G (p.Phe43Leu)
c.24C>G (p.Phe8Leu)
3g.122261647C>TCA435424192CASRc.612C>T (p.Phe204=)
c.129C>T (p.Phe43=)
c.24C>T (p.Phe8=)
 gnomAD v4 COSMIC
3g.122261648C>ACA354150967CASRc.613C>A (p.Arg205Ser)
c.130C>A (p.Arg44Ser)
c.25C>A (p.Arg9Ser)
3g.122261648C=CA1397872936CASRc.613C= (p.Arg205=)
c.130C= (p.Arg44=)
c.25C= (p.Arg9=)
3g.122261648C>GCA354150968CASRc.613C>G (p.Arg205Gly)
c.130C>G (p.Arg44Gly)
c.25C>G (p.Arg9Gly)
 ClinVar dbSNP
3g.122261648C>TCA2569514CASRc.613C>T (p.Arg205Cys)
c.130C>T (p.Arg44Cys)
c.25C>T (p.Arg9Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122261649G>ACA2569515CASRc.614G>A (p.Arg205His)
c.131G>A (p.Arg44His)
c.26G>A (p.Arg9His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122261649G>CCA354150969CASRc.614G>C (p.Arg205Pro)
c.131G>C (p.Arg44Pro)
c.26G>C (p.Arg9Pro)
 ClinVar dbSNP
3g.122261649G=CA1397872939CASRc.614G= (p.Arg205=)
c.131G= (p.Arg44=)
c.26G= (p.Arg9=)
3g.122261649G>TCA354150970CASRc.614G>T (p.Arg205Leu)
c.131G>T (p.Arg44Leu)
c.26G>T (p.Arg9Leu)
 ClinVar dbSNP COSMIC
3g.122261650C>ACA435424193CASRc.615C>A (p.Arg205=)
c.132C>A (p.Arg44=)
c.27C>A (p.Arg9=)
3g.122261650C>GCA435424194CASRc.615C>G (p.Arg205=)
c.132C>G (p.Arg44=)
c.27C>G (p.Arg9=)
3g.122261650C>TCA435424195CASRc.615C>T (p.Arg205=)
c.132C>T (p.Arg44=)
c.27C>T (p.Arg9=)
 COSMIC
3g.122261651T>ACA354150971CASRc.616T>A (p.Trp206Arg)
c.133T>A (p.Trp45Arg)
c.28T>A (p.Trp10Arg)
3g.122261651T>CCA354150972CASRc.616T>C (p.Trp206Arg)
c.133T>C (p.Trp45Arg)
c.28T>C (p.Trp10Arg)
3g.122261651T>GCA354150973CASRc.616T>G (p.Trp206Gly)
c.133T>G (p.Trp45Gly)
c.28T>G (p.Trp10Gly)
3g.122261652G>ACA354150976CASRc.617G>A (p.Trp206Ter)
c.134G>A (p.Trp45Ter)
c.29G>A (p.Trp10Ter)
 COSMIC
3g.122261652G>CCA354150975CASRc.617G>C (p.Trp206Ser)
c.134G>C (p.Trp45Ser)
c.29G>C (p.Trp10Ser)
3g.122261652G>TCA354150974CASRc.617G>T (p.Trp206Leu)
c.134G>T (p.Trp45Leu)
c.29G>T (p.Trp10Leu)
3g.122261653G>ACA354150977CASRc.618G>A (p.Trp206Ter)
c.135G>A (p.Trp45Ter)
c.30G>A (p.Trp10Ter)
3g.122261653G>CCA354150979CASRc.618G>C (p.Trp206Cys)
c.135G>C (p.Trp45Cys)
c.30G>C (p.Trp10Cys)
3g.122261653G>TCA354150978CASRc.618G>T (p.Trp206Cys)
c.135G>T (p.Trp45Cys)
c.30G>T (p.Trp10Cys)
3g.122261654A>CCA354150980CASRc.619A>C (p.Asn207His)
c.136A>C (p.Asn46His)
c.31A>C (p.Asn11His)
3g.122261654A>GCA354150981CASRc.619A>G (p.Asn207Asp)
c.136A>G (p.Asn46Asp)
c.31A>G (p.Asn11Asp)
3g.122261654A>TCA354150982CASRc.619A>T (p.Asn207Tyr)
c.136A>T (p.Asn46Tyr)
c.31A>T (p.Asn11Tyr)
3g.122261655A>CCA354150983CASRc.620A>C (p.Asn207Thr)
c.137A>C (p.Asn46Thr)
c.32A>C (p.Asn11Thr)
3g.122261655A>GCA354150984CASRc.620A>G (p.Asn207Ser)
c.137A>G (p.Asn46Ser)
c.32A>G (p.Asn11Ser)
3g.122261655A>TCA354150985CASRc.620A>T (p.Asn207Ile)
c.137A>T (p.Asn46Ile)
c.32A>T (p.Asn11Ile)
3g.122261656delCA2740094558CASRc.621del (p.Trp208GlyfsTer?)
c.138del (p.Trp47GlyfsTer?)
c.33del (p.Trp12GlyfsTer?)
 ClinVar
3g.122261656C>ACA354150986CASRc.621C>A (p.Asn207Lys)
c.138C>A (p.Asn46Lys)
c.33C>A (p.Asn11Lys)
 ClinVar
3g.122261656C>GCA354150987CASRc.621C>G (p.Asn207Lys)
c.138C>G (p.Asn46Lys)
c.33C>G (p.Asn11Lys)
3g.122261656C>TCA435424196CASRc.621C>T (p.Asn207=)
c.138C>T (p.Asn46=)
c.33C>T (p.Asn11=)
 ClinVar dbSNP
3g.122261657T>ACA354150988CASRc.622T>A (p.Trp208Arg)
c.139T>A (p.Trp47Arg)
c.34T>A (p.Trp12Arg)
 gnomAD v4
3g.122261657T>CCA354150989CASRc.622T>C (p.Trp208Arg)
c.139T>C (p.Trp47Arg)
c.34T>C (p.Trp12Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.122261657T>GCA354150990CASRc.622T>G (p.Trp208Gly)
c.139T>G (p.Trp47Gly)
c.34T>G (p.Trp12Gly)
3g.122261657T=CA1397872942CASRc.622T= (p.Trp208=)
c.139T= (p.Trp47=)
c.34T= (p.Trp12=)
3g.122261658G>ACA354150993CASRc.623G>A (p.Trp208Ter)
c.140G>A (p.Trp47Ter)
c.35G>A (p.Trp12Ter)
 gnomAD v4
3g.122261658G>CCA354150992CASRc.623G>C (p.Trp208Ser)
c.140G>C (p.Trp47Ser)
c.35G>C (p.Trp12Ser)
 ClinVar dbSNP
3g.122261658G=CA1397872943CASRc.623G= (p.Trp208=)
c.140G= (p.Trp47=)
c.35G= (p.Trp12=)
3g.122261658G>TCA354150991CASRc.623G>T (p.Trp208Leu)
c.140G>T (p.Trp47Leu)
c.35G>T (p.Trp12Leu)
3g.122261659G>ACA354150994CASRc.624G>A (p.Trp208Ter)
c.141G>A (p.Trp47Ter)
c.36G>A (p.Trp12Ter)
3g.122261659G>CCA354150995CASRc.624G>C (p.Trp208Cys)
c.141G>C (p.Trp47Cys)
c.36G>C (p.Trp12Cys)
3g.122261659G>TCA354150996CASRc.624G>T (p.Trp208Cys)
c.141G>T (p.Trp47Cys)
c.36G>T (p.Trp12Cys)
 ClinVar dbSNP
3g.122261660G>ACA354150997CASRc.625G>A (p.Val209Met)
c.142G>A (p.Val48Met)
c.37G>A (p.Val13Met)
3g.122261660G>CCA354150998CASRc.625G>C (p.Val209Leu)
c.142G>C (p.Val48Leu)
c.37G>C (p.Val13Leu)
3g.122261660G>TCA354150999CASRc.625G>T (p.Val209Leu)
c.142G>T (p.Val48Leu)
c.37G>T (p.Val13Leu)
3g.122261661T>ACA354151000CASRc.626T>A (p.Val209Glu)
c.143T>A (p.Val48Glu)
c.38T>A (p.Val13Glu)
3g.122261661T>CCA82738292CASRc.626T>C (p.Val209Ala)
c.143T>C (p.Val48Ala)
c.38T>C (p.Val13Ala)
 ClinVar dbSNP
3g.122261661T>GCA354151001CASRc.626T>G (p.Val209Gly)
c.143T>G (p.Val48Gly)
c.38T>G (p.Val13Gly)
3g.122261661T=CA1397872944CASRc.626T= (p.Val209=)
c.143T= (p.Val48=)
c.38T= (p.Val13=)
3g.122261662G>ACA435424199CASRc.627G>A (p.Val209=)
c.144G>A (p.Val48=)
c.39G>A (p.Val13=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261662G>CCA435424198CASRc.627G>C (p.Val209=)
c.144G>C (p.Val48=)
c.39G>C (p.Val13=)
3g.122261662G=CA1397872945CASRc.627G= (p.Val209=)
c.144G= (p.Val48=)
c.39G= (p.Val13=)
3g.122261662G>TCA435424197CASRc.627G>T (p.Val209=)
c.144G>T (p.Val48=)
c.39G>T (p.Val13=)
3g.122261663G>ACA354151002CASRc.628G>A (p.Gly210Ser)
c.145G>A (p.Gly49Ser)
c.40G>A (p.Gly14Ser)
3g.122261663G>CCA354151003CASRc.628G>C (p.Gly210Arg)
c.145G>C (p.Gly49Arg)
c.40G>C (p.Gly14Arg)
3g.122261663G>TCA354151004CASRc.628G>T (p.Gly210Cys)
c.145G>T (p.Gly49Cys)
c.40G>T (p.Gly14Cys)
 ClinVar dbSNP
3g.122261664G>ACA82738297CASRc.629G>A (p.Gly210Asp)
c.146G>A (p.Gly49Asp)
c.41G>A (p.Gly14Asp)
 dbSNP
3g.122261664G>CCA354151006CASRc.629G>C (p.Gly210Ala)
c.146G>C (p.Gly49Ala)
c.41G>C (p.Gly14Ala)
3g.122261664G=CA1397872946CASRc.629G= (p.Gly210=)
c.146G= (p.Gly49=)
c.41G= (p.Gly14=)
3g.122261664G>TCA354151005CASRc.629G>T (p.Gly210Val)
c.146G>T (p.Gly49Val)
c.41G>T (p.Gly14Val)
3g.122261665C>ACA435424200CASRc.630C>A (p.Gly210=)
c.147C>A (p.Gly49=)
c.42C>A (p.Gly14=)
 ClinVar
3g.122261665C=CA1397872947CASRc.630C= (p.Gly210=)
c.147C= (p.Gly49=)
c.42C= (p.Gly14=)
3g.122261665C>GCA435424201CASRc.630C>G (p.Gly210=)
c.147C>G (p.Gly49=)
c.42C>G (p.Gly14=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261665C>TCA435424202CASRc.630C>T (p.Gly210=)
c.147C>T (p.Gly49=)
c.42C>T (p.Gly14=)
 gnomAD v4
3g.122261666A>CCA354151007CASRc.631A>C (p.Thr211Pro)
c.148A>C (p.Thr50Pro)
c.43A>C (p.Thr15Pro)
3g.122261666A>GCA354151008CASRc.631A>G (p.Thr211Ala)
c.148A>G (p.Thr50Ala)
c.43A>G (p.Thr15Ala)
 ClinVar
3g.122261666A>TCA354151009CASRc.631A>T (p.Thr211Ser)
c.148A>T (p.Thr50Ser)
c.43A>T (p.Thr15Ser)
3g.122261667C>ACA354151010CASRc.632C>A (p.Thr211Lys)
c.149C>A (p.Thr50Lys)
c.44C>A (p.Thr15Lys)
3g.122261667C=CA1397872949CASRc.632C= (p.Thr211=)
c.149C= (p.Thr50=)
c.44C= (p.Thr15=)
3g.122261667C>GCA354151011CASRc.632C>G (p.Thr211Arg)
c.149C>G (p.Thr50Arg)
c.44C>G (p.Thr15Arg)
3g.122261667C>TCA354151012CASRc.632C>T (p.Thr211Ile)
c.149C>T (p.Thr50Ile)
c.44C>T (p.Thr15Ile)
 ClinVar dbSNP
3g.122261668A>CCA435424205CASRc.633A>C (p.Thr211=)
c.150A>C (p.Thr50=)
c.45A>C (p.Thr15=)
3g.122261668A>GCA435424203CASRc.633A>G (p.Thr211=)
c.150A>G (p.Thr50=)
c.45A>G (p.Thr15=)
 ClinVar dbSNP
3g.122261668A>TCA435424204CASRc.633A>T (p.Thr211=)
c.150A>T (p.Thr50=)
c.45A>T (p.Thr15=)
3g.122261669A=CA1397872951CASRc.634A= (p.Ile212=)
c.151A= (p.Ile51=)
c.46A= (p.Ile16=)
3g.122261669A>CCA354151013CASRc.634A>C (p.Ile212Leu)
c.151A>C (p.Ile51Leu)
c.46A>C (p.Ile16Leu)
3g.122261669A>GCA354151014CASRc.634A>G (p.Ile212Val)
c.151A>G (p.Ile51Val)
c.46A>G (p.Ile16Val)
 ClinVar dbSNP gnomAD v4
3g.122261669A>TCA354151015CASRc.634A>T (p.Ile212Phe)
c.151A>T (p.Ile51Phe)
c.46A>T (p.Ile16Phe)
3g.122261670T>ACA354151016CASRc.635T>A (p.Ile212Asn)
c.152T>A (p.Ile51Asn)
c.47T>A (p.Ile16Asn)
3g.122261670T>CCA354151017CASRc.635T>C (p.Ile212Thr)
c.152T>C (p.Ile51Thr)
c.47T>C (p.Ile16Thr)
 ClinVar dbSNP gnomAD v4
3g.122261670T>GCA354151018CASRc.635T>G (p.Ile212Ser)
c.152T>G (p.Ile51Ser)
c.47T>G (p.Ile16Ser)
3g.122261670T=CA1397872952CASRc.635T= (p.Ile212=)
c.152T= (p.Ile51=)
c.47T= (p.Ile16=)
3g.122261671T>ACA435424206CASRc.636T>A (p.Ile212=)
c.153T>A (p.Ile51=)
c.48T>A (p.Ile16=)
3g.122261671T>CCA435424207CASRc.636T>C (p.Ile212=)
c.153T>C (p.Ile51=)
c.48T>C (p.Ile16=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261671T>GCA354151019CASRc.636T>G (p.Ile212Met)
c.153T>G (p.Ile51Met)
c.48T>G (p.Ile16Met)
3g.122261671T=CA1397872955CASRc.636T= (p.Ile212=)
c.153T= (p.Ile51=)
c.48T= (p.Ile16=)
3g.122261672G>ACA354151022CASRc.637G>A (p.Ala213Thr)
c.154G>A (p.Ala52Thr)
c.49G>A (p.Ala17Thr)
3g.122261672G>CCA354151020CASRc.637G>C (p.Ala213Pro)
c.154G>C (p.Ala52Pro)
c.49G>C (p.Ala17Pro)
 ClinVar
3g.122261672G>TCA354151021CASRc.637G>T (p.Ala213Ser)
c.154G>T (p.Ala52Ser)
c.49G>T (p.Ala17Ser)
3g.122261673C>ACA354151023CASRc.638C>A (p.Ala213Glu)
c.155C>A (p.Ala52Glu)
c.50C>A (p.Ala17Glu)
3g.122261673C=CA1397872957CASRc.638C= (p.Ala213=)
c.155C= (p.Ala52=)
c.50C= (p.Ala17=)
3g.122261673C>GCA354151024CASRc.638C>G (p.Ala213Gly)
c.155C>G (p.Ala52Gly)
c.50C>G (p.Ala17Gly)
3g.122261673C>TCA354151025CASRc.638C>T (p.Ala213Val)
c.155C>T (p.Ala52Val)
c.50C>T (p.Ala17Val)
 ClinVar dbSNP
3g.122261674A>CCA435424210CASRc.639A>C (p.Ala213=)
c.156A>C (p.Ala52=)
c.51A>C (p.Ala17=)
3g.122261674A>GCA435424208CASRc.639A>G (p.Ala213=)
c.156A>G (p.Ala52=)
c.51A>G (p.Ala17=)
 ClinVar gnomAD v4
3g.122261674A>TCA435424209CASRc.639A>T (p.Ala213=)
c.156A>T (p.Ala52=)
c.51A>T (p.Ala17=)
3g.122261675G>ACA354151026CASRc.640G>A (p.Ala214Thr)
c.157G>A (p.Ala53Thr)
c.52G>A (p.Ala18Thr)
 ClinVar
3g.122261675G>CCA354151027CASRc.640G>C (p.Ala214Pro)
c.157G>C (p.Ala53Pro)
c.52G>C (p.Ala18Pro)
3g.122261675G>TCA354151028CASRc.640G>T (p.Ala214Ser)
c.157G>T (p.Ala53Ser)
c.52G>T (p.Ala18Ser)
3g.122261676C>ACA354151029CASRc.641C>A (p.Ala214Asp)
c.158C>A (p.Ala53Asp)
c.53C>A (p.Ala18Asp)
3g.122261676C>GCA354151030CASRc.641C>G (p.Ala214Gly)
c.158C>G (p.Ala53Gly)
c.53C>G (p.Ala18Gly)
 ClinVar
3g.122261676C>TCA354151031CASRc.641C>T (p.Ala214Val)
c.158C>T (p.Ala53Val)
c.53C>T (p.Ala18Val)
3g.122261677T>ACA435424211CASRc.642T>A (p.Ala214=)
c.159T>A (p.Ala53=)
c.54T>A (p.Ala18=)
3g.122261677T>CCA435424212CASRc.642T>C (p.Ala214=)
c.159T>C (p.Ala53=)
c.54T>C (p.Ala18=)
3g.122261677T>GCA435424213CASRc.642T>G (p.Ala214=)
c.159T>G (p.Ala53=)
c.54T>G (p.Ala18=)
3g.122261678G>ACA354151032CASRc.643G>A (p.Asp215Asn)
c.160G>A (p.Asp54Asn)
c.55G>A (p.Asp19Asn)
 ClinVar
3g.122261678G>CCA213604CASRc.643G>C (p.Asp215His)
c.160G>C (p.Asp54His)
c.55G>C (p.Asp19His)
 ClinVar dbSNP
3g.122261678G=CA1397872960CASRc.643G= (p.Asp215=)
c.160G= (p.Asp54=)
c.55G= (p.Asp19=)
3g.122261678G>TCA354151033CASRc.643G>T (p.Asp215Tyr)
c.160G>T (p.Asp54Tyr)
c.55G>T (p.Asp19Tyr)
3g.122261679A>CCA354151036CASRc.644A>C (p.Asp215Ala)
c.161A>C (p.Asp54Ala)
c.56A>C (p.Asp19Ala)
3g.122261679A>GCA354151035CASRc.644A>G (p.Asp215Gly)
c.161A>G (p.Asp54Gly)
c.56A>G (p.Asp19Gly)
3g.122261679A>TCA354151034CASRc.644A>T (p.Asp215Val)
c.161A>T (p.Asp54Val)
c.56A>T (p.Asp19Val)
3g.122261680T>ACA354151037CASRc.645T>A (p.Asp215Glu)
c.162T>A (p.Asp54Glu)
c.57T>A (p.Asp19Glu)
3g.122261680T>CCA435424214CASRc.645T>C (p.Asp215=)
c.162T>C (p.Asp54=)
c.57T>C (p.Asp19=)
3g.122261680T>GCA354151038CASRc.645T>G (p.Asp215Glu)
c.162T>G (p.Asp54Glu)
c.57T>G (p.Asp19Glu)
3g.122261681G>ACA2569516CASRc.646G>A (p.Asp216Asn)
c.163G>A (p.Asp55Asn)
c.58G>A (p.Asp20Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261681G>CCA354151040CASRc.646G>C (p.Asp216His)
c.163G>C (p.Asp55His)
c.58G>C (p.Asp20His)
3g.122261681G=CA1397872965CASRc.646G= (p.Asp216=)
c.163G= (p.Asp55=)
c.58G= (p.Asp20=)
3g.122261681G>TCA354151039CASRc.646G>T (p.Asp216Tyr)
c.163G>T (p.Asp55Tyr)
c.58G>T (p.Asp20Tyr)
3g.122261682A=CA1397872967CASRc.647A= (p.Asp216=)
c.164A= (p.Asp55=)
c.59A= (p.Asp20=)
3g.122261682A>CCA354151041CASRc.647A>C (p.Asp216Ala)
c.164A>C (p.Asp55Ala)
c.59A>C (p.Asp20Ala)
3g.122261682A>GCA354151043CASRc.647A>G (p.Asp216Gly)
c.164A>G (p.Asp55Gly)
c.59A>G (p.Asp20Gly)
3g.122261682A>TCA354151042CASRc.647A>T (p.Asp216Val)
c.164A>T (p.Asp55Val)
c.59A>T (p.Asp20Val)
 dbSNP
3g.122261683C>ACA354151044CASRc.648C>A (p.Asp216Glu)
c.165C>A (p.Asp55Glu)
c.60C>A (p.Asp20Glu)
3g.122261683C=CA1397872969CASRc.648C= (p.Asp216=)
c.165C= (p.Asp55=)
c.60C= (p.Asp20=)
3g.122261683C>GCA354151045CASRc.648C>G (p.Asp216Glu)
c.165C>G (p.Asp55Glu)
c.60C>G (p.Asp20Glu)
3g.122261683C>TCA2569517CASRc.648C>T (p.Asp216=)
c.165C>T (p.Asp55=)
c.60C>T (p.Asp20=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261684G>ACA2569518CASRc.649G>A (p.Asp217Asn)
c.166G>A (p.Asp56Asn)
c.61G>A (p.Asp21Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261684G>CCA354151046CASRc.649G>C (p.Asp217His)
c.166G>C (p.Asp56His)
c.61G>C (p.Asp21His)
3g.122261684G=CA1397872974CASRc.649G= (p.Asp217=)
c.166G= (p.Asp56=)
c.61G= (p.Asp21=)
3g.122261684G>TCA354151047CASRc.649G>T (p.Asp217Tyr)
c.166G>T (p.Asp56Tyr)
c.61G>T (p.Asp21Tyr)
 ClinVar dbSNP
3g.122261685A=CA1397872976CASRc.650A= (p.Asp217=)
c.167A= (p.Asp56=)
c.62A= (p.Asp21=)
3g.122261685A>CCA354151048CASRc.650A>C (p.Asp217Ala)
c.167A>C (p.Asp56Ala)
c.62A>C (p.Asp21Ala)
3g.122261685A>GCA10602862CASRc.650A>G (p.Asp217Gly)
c.167A>G (p.Asp56Gly)
c.62A>G (p.Asp21Gly)
 ClinVar dbSNP COSMIC
3g.122261685A>TCA354151049CASRc.650A>T (p.Asp217Val)
c.167A>T (p.Asp56Val)
c.62A>T (p.Asp21Val)
3g.122261686C>ACA354151050CASRc.651C>A (p.Asp217Glu)
c.168C>A (p.Asp56Glu)
c.63C>A (p.Asp21Glu)
3g.122261686C>GCA354151051CASRc.651C>G (p.Asp217Glu)
c.168C>G (p.Asp56Glu)
c.63C>G (p.Asp21Glu)
3g.122261686C>TCA435424215CASRc.651C>T (p.Asp217=)
c.168C>T (p.Asp56=)
c.63C>T (p.Asp21=)
 ClinVar dbSNP
3g.122261687T>ACA354151053CASRc.652T>A (p.Tyr218Asn)
c.169T>A (p.Tyr57Asn)
c.64T>A (p.Tyr22Asn)
 ClinVar
3g.122261687T>CCA354151052CASRc.652T>C (p.Tyr218His)
c.169T>C (p.Tyr57His)
c.64T>C (p.Tyr22His)
 ClinVar dbSNP gnomAD v4
3g.122261687T>GCA16604347CASRc.652T>G (p.Tyr218Asp)
c.169T>G (p.Tyr57Asp)
c.64T>G (p.Tyr22Asp)
 ClinVar dbSNP
3g.122261687T=CA1397872979CASRc.652T= (p.Tyr218=)
c.169T= (p.Tyr57=)
c.64T= (p.Tyr22=)
3g.122261688A=CA1397872981CASRc.653A= (p.Tyr218=)
c.170A= (p.Tyr57=)
c.65A= (p.Tyr22=)
3g.122261688A>CCA354151054CASRc.653A>C (p.Tyr218Ser)
c.170A>C (p.Tyr57Ser)
c.65A>C (p.Tyr22Ser)
3g.122261688A>GCA354151055CASRc.653A>G (p.Tyr218Cys)
c.170A>G (p.Tyr57Cys)
c.65A>G (p.Tyr22Cys)
 ClinVar dbSNP gnomAD v4
3g.122261688A>TCA354151056CASRc.653A>T (p.Tyr218Phe)
c.170A>T (p.Tyr57Phe)
c.65A>T (p.Tyr22Phe)
3g.122261689T>ACA354151057CASRc.654T>A (p.Tyr218Ter)
c.171T>A (p.Tyr57Ter)
c.66T>A (p.Tyr22Ter)
3g.122261689T>CCA435424216CASRc.654T>C (p.Tyr218=)
c.171T>C (p.Tyr57=)
c.66T>C (p.Tyr22=)
 ClinVar dbSNP
3g.122261689T>GCA354151058CASRc.654T>G (p.Tyr218Ter)
c.171T>G (p.Tyr57Ter)
c.66T>G (p.Tyr22Ter)
3g.122261689T=CA1397872984CASRc.654T= (p.Tyr218=)
c.171T= (p.Tyr57=)
c.66T= (p.Tyr22=)
3g.122261690G>ACA354151059CASRc.655G>A (p.Gly219Arg)
c.172G>A (p.Gly58Arg)
c.67G>A (p.Gly23Arg)
3g.122261690G>CCA354151060CASRc.655G>C (p.Gly219Arg)
c.172G>C (p.Gly58Arg)
c.67G>C (p.Gly23Arg)
3g.122261690G>TCA354151061CASRc.655G>T (p.Gly219Trp)
c.172G>T (p.Gly58Trp)
c.67G>T (p.Gly23Trp)
 ClinVar dbSNP
3g.122261691G>ACA354151062CASRc.656G>A (p.Gly219Glu)
c.173G>A (p.Gly58Glu)
c.68G>A (p.Gly23Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261691G>CCA354151063CASRc.656G>C (p.Gly219Ala)
c.173G>C (p.Gly58Ala)
c.68G>C (p.Gly23Ala)
3g.122261691G=CA1397872987CASRc.656G= (p.Gly219=)
c.173G= (p.Gly58=)
c.68G= (p.Gly23=)
3g.122261691G>TCA354151064CASRc.656G>T (p.Gly219Val)
c.173G>T (p.Gly58Val)
c.68G>T (p.Gly23Val)
3g.122261692G>ACA2569519CASRc.657G>A (p.Gly219=)
c.174G>A (p.Gly58=)
c.69G>A (p.Gly23=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261692G>CCA435424217CASRc.657G>C (p.Gly219=)
c.174G>C (p.Gly58=)
c.69G>C (p.Gly23=)
3g.122261692G=CA1397872989CASRc.657G= (p.Gly219=)
c.174G= (p.Gly58=)
c.69G= (p.Gly23=)
3g.122261692G>TCA435424218CASRc.657G>T (p.Gly219=)
c.174G>T (p.Gly58=)
c.69G>T (p.Gly23=)
 ClinVar
3g.122261693C>ACA435424219CASRc.658C>A (p.Arg220=)
c.175C>A (p.Arg59=)
c.70C>A (p.Arg24=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261693C=CA1397872993CASRc.658C= (p.Arg220=)
c.175C= (p.Arg59=)
c.70C= (p.Arg24=)
3g.122261693C>GCA354151066CASRc.658C>G (p.Arg220Gly)
c.175C>G (p.Arg59Gly)
c.70C>G (p.Arg24Gly)
3g.122261693C>TCA354151065CASRc.658C>T (p.Arg220Trp)
c.175C>T (p.Arg59Trp)
c.70C>T (p.Arg24Trp)
 ClinVar dbSNP gnomAD v2 COSMIC
3g.122261694G>ACA354151067CASRc.659G>A (p.Arg220Gln)
c.176G>A (p.Arg59Gln)
c.71G>A (p.Arg24Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122261694G>CCA354151068CASRc.659G>C (p.Arg220Pro)
c.176G>C (p.Arg59Pro)
c.71G>C (p.Arg24Pro)
 ClinVar
3g.122261694G=CA1397872996CASRc.659G= (p.Arg220=)
c.176G= (p.Arg59=)
c.71G= (p.Arg24=)
3g.122261694G>TCA354151069CASRc.659G>T (p.Arg220Leu)
c.176G>T (p.Arg59Leu)
c.71G>T (p.Arg24Leu)
3g.122261695G>ACA435424220CASRc.660G>A (p.Arg220=)
c.177G>A (p.Arg59=)
c.72G>A (p.Arg24=)
3g.122261695G>CCA435424222CASRc.660G>C (p.Arg220=)
c.177G>C (p.Arg59=)
c.72G>C (p.Arg24=)
3g.122261695G>TCA435424221CASRc.660G>T (p.Arg220=)
c.177G>T (p.Arg59=)
c.72G>T (p.Arg24=)
 ClinVar gnomAD v4
3g.122261696C>ACA354151070CASRc.661C>A (p.Pro221Thr)
c.178C>A (p.Pro60Thr)
c.73C>A (p.Pro25Thr)
3g.122261696C>GCA354151071CASRc.661C>G (p.Pro221Ala)
c.178C>G (p.Pro60Ala)
c.73C>G (p.Pro25Ala)
3g.122261696C>TCA354151072CASRc.661C>T (p.Pro221Ser)
c.178C>T (p.Pro60Ser)
c.73C>T (p.Pro25Ser)
 ClinVar
3g.122261697C>ACA144611CASRc.662C>A (p.Pro221Gln)
c.179C>A (p.Pro60Gln)
c.74C>A (p.Pro25Gln)
 ClinVar dbSNP
3g.122261697C=CA1397872999CASRc.662C= (p.Pro221=)
c.179C= (p.Pro60=)
c.74C= (p.Pro25=)
3g.122261697C>GCA354151073CASRc.662C>G (p.Pro221Arg)
c.179C>G (p.Pro60Arg)
c.74C>G (p.Pro25Arg)
3g.122261697C>TCA144609CASRc.662C>T (p.Pro221Leu)
c.179C>T (p.Pro60Leu)
c.74C>T (p.Pro25Leu)
 ClinVar dbSNP
3g.122261698G>ACA435424223CASRc.663G>A (p.Pro221=)
c.180G>A (p.Pro60=)
c.75G>A (p.Pro25=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261698G>CCA2569520CASRc.663G>C (p.Pro221=)
c.180G>C (p.Pro60=)
c.75G>C (p.Pro25=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261698G=CA1397873002CASRc.663G= (p.Pro221=)
c.180G= (p.Pro60=)
c.75G= (p.Pro25=)
3g.122261698G>TCA435424224CASRc.663G>T (p.Pro221=)
c.180G>T (p.Pro60=)
c.75G>T (p.Pro25=)
3g.122261701delCA645532161CASRc.666del (p.Ile223LeufsTer?)
c.183del (p.Ile62LeufsTer?)
c.78del (p.Ile27LeufsTer?)
 ClinVar dbSNP COSMIC
3g.122261699G>ACA354151076CASRc.664G>A (p.Gly222Arg)
c.181G>A (p.Gly61Arg)
c.76G>A (p.Gly26Arg)
 ClinVar dbSNP gnomAD v4
3g.122261699G>CCA354151075CASRc.664G>C (p.Gly222Arg)
c.181G>C (p.Gly61Arg)
c.76G>C (p.Gly26Arg)
3g.122261699G>TCA354151074CASRc.664G>T (p.Gly222Trp)
c.181G>T (p.Gly61Trp)
c.76G>T (p.Gly26Trp)
3g.122261700G>ACA354151077CASRc.665G>A (p.Gly222Glu)
c.182G>A (p.Gly61Glu)
c.77G>A (p.Gly26Glu)
 ClinVar
3g.122261700G>CCA354151078CASRc.665G>C (p.Gly222Ala)
c.182G>C (p.Gly61Ala)
c.77G>C (p.Gly26Ala)
3g.122261700G>TCA354151079CASRc.665G>T (p.Gly222Val)
c.182G>T (p.Gly61Val)
c.77G>T (p.Gly26Val)
3g.122261701G>ACA435424225CASRc.666G>A (p.Gly222=)
c.183G>A (p.Gly61=)
c.78G>A (p.Gly26=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261701G>CCA435424226CASRc.666G>C (p.Gly222=)
c.183G>C (p.Gly61=)
c.78G>C (p.Gly26=)
3g.122261701G>TCA435424227CASRc.666G>T (p.Gly222=)
c.183G>T (p.Gly61=)
c.78G>T (p.Gly26=)
 gnomAD v4
3g.122261702A>CCA354151080CASRc.667A>C (p.Ile223Leu)
c.184A>C (p.Ile62Leu)
c.79A>C (p.Ile27Leu)
3g.122261702A>GCA354151081CASRc.667A>G (p.Ile223Val)
c.184A>G (p.Ile62Val)
c.79A>G (p.Ile27Val)
3g.122261702A>TCA354151082CASRc.667A>T (p.Ile223Phe)
c.184A>T (p.Ile62Phe)
c.79A>T (p.Ile27Phe)
3g.122261703T>ACA354151083CASRc.668T>A (p.Ile223Asn)
c.185T>A (p.Ile62Asn)
c.80T>A (p.Ile27Asn)
3g.122261703T>CCA354151084CASRc.668T>C (p.Ile223Thr)
c.185T>C (p.Ile62Thr)
c.80T>C (p.Ile27Thr)
 dbSNP
3g.122261703T>GCA354151085CASRc.668T>G (p.Ile223Ser)
c.185T>G (p.Ile62Ser)
c.80T>G (p.Ile27Ser)
3g.122261703T=CA1397873004CASRc.668T= (p.Ile223=)
c.185T= (p.Ile62=)
c.80T= (p.Ile27=)
3g.122261704T>ACA435424228CASRc.669T>A (p.Ile223=)
c.186T>A (p.Ile62=)
c.81T>A (p.Ile27=)
3g.122261704T>CCA435424229CASRc.669T>C (p.Ile223=)
c.186T>C (p.Ile62=)
c.81T>C (p.Ile27=)
3g.122261704T>GCA354151086CASRc.669T>G (p.Ile223Met)
c.186T>G (p.Ile62Met)
c.81T>G (p.Ile27Met)
3g.122261705G>ACA354151087CASRc.670G>A (p.Glu224Lys)
c.187G>A (p.Glu63Lys)
c.82G>A (p.Glu28Lys)
3g.122261705G>CCA354151088CASRc.670G>C (p.Glu224Gln)
c.187G>C (p.Glu63Gln)
c.82G>C (p.Glu28Gln)
3g.122261705G>TCA354151089CASRc.670G>T (p.Glu224Ter)
c.187G>T (p.Glu63Ter)
c.82G>T (p.Glu28Ter)
3g.122261706A>CCA354151091CASRc.671A>C (p.Glu224Ala)
c.188A>C (p.Glu63Ala)
c.83A>C (p.Glu28Ala)
3g.122261706A>GCA354151092CASRc.671A>G (p.Glu224Gly)
c.188A>G (p.Glu63Gly)
c.83A>G (p.Glu28Gly)
3g.122261706A>TCA354151090CASRc.671A>T (p.Glu224Val)
c.188A>T (p.Glu63Val)
c.83A>T (p.Glu28Val)
3g.122261707G>ACA435424230CASRc.672G>A (p.Glu224=)
c.189G>A (p.Glu63=)
c.84G>A (p.Glu28=)
3g.122261707G>CCA354151094CASRc.672G>C (p.Glu224Asp)
c.189G>C (p.Glu63Asp)
c.84G>C (p.Glu28Asp)
 ClinVar
3g.122261707G>TCA354151093CASRc.672G>T (p.Glu224Asp)
c.189G>T (p.Glu63Asp)
c.84G>T (p.Glu28Asp)
3g.122261708A>CCA354151095CASRc.673A>C (p.Lys225Gln)
c.190A>C (p.Lys64Gln)
c.85A>C (p.Lys29Gln)
3g.122261708A>GCA354151096CASRc.673A>G (p.Lys225Glu)
c.190A>G (p.Lys64Glu)
c.85A>G (p.Lys29Glu)
3g.122261708A>TCA354151097CASRc.673A>T (p.Lys225Ter)
c.190A>T (p.Lys64Ter)
c.85A>T (p.Lys29Ter)
3g.122261709A>CCA354151098CASRc.674A>C (p.Lys225Thr)
c.191A>C (p.Lys64Thr)
c.86A>C (p.Lys29Thr)
3g.122261709A>GCA354151099CASRc.674A>G (p.Lys225Arg)
c.191A>G (p.Lys64Arg)
c.86A>G (p.Lys29Arg)
3g.122261709A>TCA354151100CASRc.674A>T (p.Lys225Ile)
c.191A>T (p.Lys64Ile)
c.86A>T (p.Lys29Ile)
3g.122261710A=CA1397873006CASRc.675A= (p.Lys225=)
c.192A= (p.Lys64=)
c.87A= (p.Lys29=)
3g.122261710A>CCA354151101CASRc.675A>C (p.Lys225Asn)
c.192A>C (p.Lys64Asn)
c.87A>C (p.Lys29Asn)
3g.122261710A>GCA82738347CASRc.675A>G (p.Lys225=)
c.192A>G (p.Lys64=)
c.87A>G (p.Lys29=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261710A>TCA354151102CASRc.675A>T (p.Lys225Asn)
c.192A>T (p.Lys64Asn)
c.87A>T (p.Lys29Asn)
3g.122261711T>ACA354151103CASRc.676T>A (p.Phe226Ile)
c.193T>A (p.Phe65Ile)
c.88T>A (p.Phe30Ile)
3g.122261711T>CCA354151104CASRc.676T>C (p.Phe226Leu)
c.193T>C (p.Phe65Leu)
c.88T>C (p.Phe30Leu)
3g.122261711T>GCA354151105CASRc.676T>G (p.Phe226Val)
c.193T>G (p.Phe65Val)
c.88T>G (p.Phe30Val)
3g.122261712T>ACA354151106CASRc.677T>A (p.Phe226Tyr)
c.194T>A (p.Phe65Tyr)
c.89T>A (p.Phe30Tyr)
3g.122261712T>CCA354151108CASRc.677T>C (p.Phe226Ser)
c.194T>C (p.Phe65Ser)
c.89T>C (p.Phe30Ser)
3g.122261712T>GCA354151107CASRc.677T>G (p.Phe226Cys)
c.194T>G (p.Phe65Cys)
c.89T>G (p.Phe30Cys)
3g.122261713C>ACA354151109CASRc.678C>A (p.Phe226Leu)
c.195C>A (p.Phe65Leu)
c.90C>A (p.Phe30Leu)
3g.122261713C>GCA354151110CASRc.678C>G (p.Phe226Leu)
c.195C>G (p.Phe65Leu)
c.90C>G (p.Phe30Leu)
3g.122261713C>TCA435424231CASRc.678C>T (p.Phe226=)
c.195C>T (p.Phe65=)
c.90C>T (p.Phe30=)
 dbSNP gnomAD v4 COSMIC
3g.122261714C>ACA435424232CASRc.679C>A (p.Arg227=)
c.196C>A (p.Arg66=)
c.91C>A (p.Arg31=)
 dbSNP gnomAD v2
3g.122261714C=CA1397873008CASRc.679C= (p.Arg227=)
c.196C= (p.Arg66=)
c.91C= (p.Arg31=)
3g.122261714C>GCA354151111CASRc.679C>G (p.Arg227Gly)
c.196C>G (p.Arg66Gly)
c.91C>G (p.Arg31Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261714C>TCA354151112CASRc.679C>T (p.Arg227Ter)
c.196C>T (p.Arg66Ter)
c.91C>T (p.Arg31Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261715G>ACA212891CASRc.680G>A (p.Arg227Gln)
c.197G>A (p.Arg66Gln)
c.92G>A (p.Arg31Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261715G>CCA354151113CASRc.680G>C (p.Arg227Pro)
c.197G>C (p.Arg66Pro)
c.92G>C (p.Arg31Pro)
3g.122261715G=CA1397873011CASRc.680G= (p.Arg227=)
c.197G= (p.Arg66=)
c.92G= (p.Arg31=)
3g.122261715G>TCA119475CASRc.680G>T (p.Arg227Leu)
c.197G>T (p.Arg66Leu)
c.92G>T (p.Arg31Leu)
 ClinVar dbSNP
3g.122261716A=CA1397873014CASRc.681A= (p.Arg227=)
c.198A= (p.Arg66=)
c.93A= (p.Arg31=)
3g.122261716A>CCA435424234CASRc.681A>C (p.Arg227=)
c.198A>C (p.Arg66=)
c.93A>C (p.Arg31=)
3g.122261716A>GCA2569521CASRc.681A>G (p.Arg227=)
c.198A>G (p.Arg66=)
c.93A>G (p.Arg31=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261716A>TCA435424233CASRc.681A>T (p.Arg227=)
c.198A>T (p.Arg66=)
c.93A>T (p.Arg31=)
3g.122261717G>ACA354151114CASRc.682G>A (p.Glu228Lys)
c.199G>A (p.Glu67Lys)
c.94G>A (p.Glu32Lys)
3g.122261717G>CCA354151115CASRc.682G>C (p.Glu228Gln)
c.199G>C (p.Glu67Gln)
c.94G>C (p.Glu32Gln)
 ClinVar
3g.122261717G>TCA354151116CASRc.682G>T (p.Glu228Ter)
c.199G>T (p.Glu67Ter)
c.94G>T (p.Glu32Ter)
3g.122261718A>CCA354151118CASRc.683A>C (p.Glu228Ala)
c.200A>C (p.Glu67Ala)
c.95A>C (p.Glu32Ala)
3g.122261718A>GCA354151119CASRc.683A>G (p.Glu228Gly)
c.200A>G (p.Glu67Gly)
c.95A>G (p.Glu32Gly)
3g.122261718A>TCA354151117CASRc.683A>T (p.Glu228Val)
c.200A>T (p.Glu67Val)
c.95A>T (p.Glu32Val)
3g.122261719G>ACA435424235CASRc.684G>A (p.Glu228=)
c.201G>A (p.Glu67=)
c.96G>A (p.Glu32=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261719G>CCA354151120CASRc.684G>C (p.Glu228Asp)
c.201G>C (p.Glu67Asp)
c.96G>C (p.Glu32Asp)
3g.122261719G=CA1397873015CASRc.684G= (p.Glu228=)
c.201G= (p.Glu67=)
c.96G= (p.Glu32=)
3g.122261719G>TCA354151121CASRc.684G>T (p.Glu228Asp)
c.201G>T (p.Glu67Asp)
c.96G>T (p.Glu32Asp)
 gnomAD v4
3g.122261720G>ACA354151122CASRc.685G>A (p.Glu229Lys)
c.202G>A (p.Glu68Lys)
c.97G>A (p.Glu33Lys)
3g.122261720G>CCA354151123CASRc.685G>C (p.Glu229Gln)
c.202G>C (p.Glu68Gln)
c.97G>C (p.Glu33Gln)
3g.122261720G>TCA354151124CASRc.685G>T (p.Glu229Ter)
c.202G>T (p.Glu68Ter)
c.97G>T (p.Glu33Ter)
3g.122261721A=CA1397873017CASRc.686A= (p.Glu229=)
c.203A= (p.Glu68=)
c.98A= (p.Glu33=)
3g.122261721A>CCA354151125CASRc.686A>C (p.Glu229Ala)
c.203A>C (p.Glu68Ala)
c.98A>C (p.Glu33Ala)
 ClinVar dbSNP
3g.122261721A>GCA354151126CASRc.686A>G (p.Glu229Gly)
c.203A>G (p.Glu68Gly)
c.98A>G (p.Glu33Gly)
3g.122261721A>TCA354151127CASRc.686A>T (p.Glu229Val)
c.203A>T (p.Glu68Val)
c.98A>T (p.Glu33Val)
3g.122261722A=CA1397873018CASRc.687A= (p.Glu229=)
c.204A= (p.Glu68=)
c.99A= (p.Glu33=)
3g.122261722A>CCA354151128CASRc.687A>C (p.Glu229Asp)
c.204A>C (p.Glu68Asp)
c.99A>C (p.Glu33Asp)
3g.122261722A>GCA435424236CASRc.687A>G (p.Glu229=)
c.204A>G (p.Glu68=)
c.99A>G (p.Glu33=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122261722A>TCA354151129CASRc.687A>T (p.Glu229Asp)
c.204A>T (p.Glu68Asp)
c.99A>T (p.Glu33Asp)
3g.122261723G>ACA354151130CASRc.688G>A (p.Ala230Thr)
c.205G>A (p.Ala69Thr)
c.100G>A (p.Ala34Thr)
 ClinVar
3g.122261723G>CCA354151131CASRc.688G>C (p.Ala230Pro)
c.205G>C (p.Ala69Pro)
c.100G>C (p.Ala34Pro)
3g.122261723G>TCA354151132CASRc.688G>T (p.Ala230Ser)
c.205G>T (p.Ala69Ser)
c.100G>T (p.Ala34Ser)
3g.122261724C>ACA354151135CASRc.689C>A (p.Ala230Asp)
c.206C>A (p.Ala69Asp)
c.101C>A (p.Ala34Asp)
3g.122261724C>GCA354151134CASRc.689C>G (p.Ala230Gly)
c.206C>G (p.Ala69Gly)
c.101C>G (p.Ala34Gly)
3g.122261724C>TCA354151133CASRc.689C>T (p.Ala230Val)
c.206C>T (p.Ala69Val)
c.101C>T (p.Ala34Val)
 ClinVar dbSNP
3g.122261725T>ACA435424237CASRc.690T>A (p.Ala230=)
c.207T>A (p.Ala69=)
c.102T>A (p.Ala34=)
3g.122261725T>CCA435424238CASRc.690T>C (p.Ala230=)
c.207T>C (p.Ala69=)
c.102T>C (p.Ala34=)
3g.122261725T>GCA435424239CASRc.690T>G (p.Ala230=)
c.207T>G (p.Ala69=)
c.102T>G (p.Ala34=)
3g.122261726G>ACA354151136CASRc.691G>A (p.Glu231Lys)
c.208G>A (p.Glu70Lys)
c.103G>A (p.Glu35Lys)
 ClinVar dbSNP
3g.122261726G>CCA354151137CASRc.691G>C (p.Glu231Gln)
c.208G>C (p.Glu70Gln)
c.103G>C (p.Glu35Gln)
3g.122261726G>TCA354151138CASRc.691G>T (p.Glu231Ter)
c.208G>T (p.Glu70Ter)
c.103G>T (p.Glu35Ter)
3g.122261727A>CCA354151139CASRc.692A>C (p.Glu231Ala)
c.209A>C (p.Glu70Ala)
c.104A>C (p.Glu35Ala)
3g.122261727A>GCA354151140CASRc.692A>G (p.Glu231Gly)
c.209A>G (p.Glu70Gly)
c.104A>G (p.Glu35Gly)
3g.122261727A>TCA354151141CASRc.692A>T (p.Glu231Val)
c.209A>T (p.Glu70Val)
c.104A>T (p.Glu35Val)
3g.122261728G>ACA435424240CASRc.693G>A (p.Glu231=)
c.210G>A (p.Glu70=)
c.105G>A (p.Glu35=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261728G>CCA354151142CASRc.693G>C (p.Glu231Asp)
c.210G>C (p.Glu70Asp)
c.105G>C (p.Glu35Asp)
3g.122261728G=CA1397873020CASRc.693G= (p.Glu231=)
c.210G= (p.Glu70=)
c.105G= (p.Glu35=)
3g.122261728G>TCA354151143CASRc.693G>T (p.Glu231Asp)
c.210G>T (p.Glu70Asp)
c.105G>T (p.Glu35Asp)
3g.122261729G>ACA354151144CASRc.694G>A (p.Glu232Lys)
c.211G>A (p.Glu71Lys)
c.106G>A (p.Glu36Lys)
 COSMIC
3g.122261729G>CCA354151145CASRc.694G>C (p.Glu232Gln)
c.211G>C (p.Glu71Gln)
c.106G>C (p.Glu36Gln)
3g.122261729G>TCA354151146CASRc.694G>T (p.Glu232Ter)
c.211G>T (p.Glu71Ter)
c.106G>T (p.Glu36Ter)
3g.122261730A>CCA354151147CASRc.695A>C (p.Glu232Ala)
c.212A>C (p.Glu71Ala)
c.107A>C (p.Glu36Ala)
3g.122261730A>GCA354151148CASRc.695A>G (p.Glu232Gly)
c.212A>G (p.Glu71Gly)
c.107A>G (p.Glu36Gly)
 COSMIC
3g.122261730A>TCA354151149CASRc.695A>T (p.Glu232Val)
c.212A>T (p.Glu71Val)
c.107A>T (p.Glu36Val)
3g.122261731A>CCA354151151CASRc.696A>C (p.Glu232Asp)
c.213A>C (p.Glu71Asp)
c.108A>C (p.Glu36Asp)
3g.122261731A>GCA435424241CASRc.696A>G (p.Glu232=)
c.213A>G (p.Glu71=)
c.108A>G (p.Glu36=)
3g.122261731A>TCA354151150CASRc.696A>T (p.Glu232Asp)
c.213A>T (p.Glu71Asp)
c.108A>T (p.Glu36Asp)
3g.122261732A>CCA435424242CASRc.697A>C (p.Arg233=)
c.214A>C (p.Arg72=)
c.109A>C (p.Arg37=)
3g.122261732A>GCA354151152CASRc.697A>G (p.Arg233Gly)
c.214A>G (p.Arg72Gly)
c.109A>G (p.Arg37Gly)
3g.122261732A>TCA354151153CASRc.697A>T (p.Arg233Trp)
c.214A>T (p.Arg72Trp)
c.109A>T (p.Arg37Trp)
3g.122261733G>ACA354151154CASRc.698G>A (p.Arg233Lys)
c.215G>A (p.Arg72Lys)
c.110G>A (p.Arg37Lys)
3g.122261733G>CCA354151155CASRc.698G>C (p.Arg233Thr)
c.215G>C (p.Arg72Thr)
c.110G>C (p.Arg37Thr)
3g.122261733G>TCA354151156CASRc.698G>T (p.Arg233Met)
c.215G>T (p.Arg72Met)
c.110G>T (p.Arg37Met)
3g.122261733_122261734insACTTGAATTGATTCTTGTTGCTGACA2551792682CASRc.698_699insACTTGAATTGATTCTTGTTGCTGA (p.Arg233_Asp234insLeuGluLeuIleLeuValAlaGlu)
c.215_216insACTTGAATTGATTCTTGTTGCTGA (p.Arg72_Asp73insLeuGluLeuIleLeuValAlaGlu)
c.110_111insACTTGAATTGATTCTTGTTGCTGA (p.Arg37_Asp38insLeuGluLeuIleLeuValAlaGlu)
3g.122261734G>ACA435424243CASRc.699G>A (p.Arg233=)
c.216G>A (p.Arg72=)
c.111G>A (p.Arg37=)
 ClinVar COSMIC
3g.122261734G>CCA354151157CASRc.699G>C (p.Arg233Ser)
c.216G>C (p.Arg72Ser)
c.111G>C (p.Arg37Ser)
3g.122261734G>TCA354151158CASRc.699G>T (p.Arg233Ser)
c.216G>T (p.Arg72Ser)
c.111G>T (p.Arg37Ser)
3g.122261735G>ACA354151161CASRc.700G>A (p.Asp234Asn)
c.217G>A (p.Asp73Asn)
c.112G>A (p.Asp38Asn)
3g.122261735G>CCA354151159CASRc.700G>C (p.Asp234His)
c.217G>C (p.Asp73His)
c.112G>C (p.Asp38His)
3g.122261735G>TCA354151160CASRc.700G>T (p.Asp234Tyr)
c.217G>T (p.Asp73Tyr)
c.112G>T (p.Asp38Tyr)
 gnomAD v4
3g.122261736A=CA1397873021CASRc.701A= (p.Asp234=)
c.218A= (p.Asp73=)
c.113A= (p.Asp38=)
3g.122261736A>CCA354151162CASRc.701A>C (p.Asp234Ala)
c.218A>C (p.Asp73Ala)
c.113A>C (p.Asp38Ala)
3g.122261736A>GCA354151163CASRc.701A>G (p.Asp234Gly)
c.218A>G (p.Asp73Gly)
c.113A>G (p.Asp38Gly)
 gnomAD v4
3g.122261736A>TCA354151164CASRc.701A>T (p.Asp234Val)
c.218A>T (p.Asp73Val)
c.113A>T (p.Asp38Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261737T>ACA354151165CASRc.702T>A (p.Asp234Glu)
c.219T>A (p.Asp73Glu)
c.114T>A (p.Asp38Glu)
3g.122261737T>CCA435424244CASRc.702T>C (p.Asp234=)
c.219T>C (p.Asp73=)
c.114T>C (p.Asp38=)
3g.122261737T>GCA354151166CASRc.702T>G (p.Asp234Glu)
c.219T>G (p.Asp73Glu)
c.114T>G (p.Asp38Glu)
3g.122261738A>CCA354151169CASRc.703A>C (p.Ile235Leu)
c.220A>C (p.Ile74Leu)
c.115A>C (p.Ile39Leu)
3g.122261738A>GCA354151167CASRc.703A>G (p.Ile235Val)
c.220A>G (p.Ile74Val)
c.115A>G (p.Ile39Val)
 ClinVar dbSNP
3g.122261738A>TCA354151168CASRc.703A>T (p.Ile235Phe)
c.220A>T (p.Ile74Phe)
c.115A>T (p.Ile39Phe)
3g.122261739delCA2586972802CASRc.704del (p.Ile235ThrfsTer22)
c.221del (p.Ile74ThrfsTer22)
c.116del (p.Ile39ThrfsTer22)
3g.122261739T>ACA354151170CASRc.704T>A (p.Ile235Asn)
c.221T>A (p.Ile74Asn)
c.116T>A (p.Ile39Asn)
3g.122261739T>CCA354151171CASRc.704T>C (p.Ile235Thr)
c.221T>C (p.Ile74Thr)
c.116T>C (p.Ile39Thr)
3g.122261739T>GCA354151172CASRc.704T>G (p.Ile235Ser)
c.221T>G (p.Ile74Ser)
c.116T>G (p.Ile39Ser)
3g.122261740C>ACA2569522CASRc.705C>A (p.Ile235=)
c.222C>A (p.Ile74=)
c.117C>A (p.Ile39=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261740C=CA1397873023CASRc.705C= (p.Ile235=)
c.222C= (p.Ile74=)
c.117C= (p.Ile39=)
3g.122261740C>GCA2569523CASRc.705C>G (p.Ile235Met)
c.222C>G (p.Ile74Met)
c.117C>G (p.Ile39Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261740C>TCA435424245CASRc.705C>T (p.Ile235=)
c.222C>T (p.Ile74=)
c.117C>T (p.Ile39=)
3g.122261742_122261750delCA2586972803CASRc.707_715del (p.Cys236_Asp238del)
c.224_232del (p.Cys75_Asp77del)
c.119_127del (p.Cys40_Asp42del)
3g.122261741T>ACA354151173CASRc.706T>A (p.Cys236Ser)
c.223T>A (p.Cys75Ser)
c.118T>A (p.Cys40Ser)
 ClinVar
3g.122261741T>CCA354151174CASRc.706T>C (p.Cys236Arg)
c.223T>C (p.Cys75Arg)
c.118T>C (p.Cys40Arg)
3g.122261741T>GCA354151175CASRc.706T>G (p.Cys236Gly)
c.223T>G (p.Cys75Gly)
c.118T>G (p.Cys40Gly)
3g.122261742G>ACA16042472CASRc.707G>A (p.Cys236Tyr)
c.224G>A (p.Cys75Tyr)
c.119G>A (p.Cys40Tyr)
 ClinVar dbSNP
3g.122261742G>CCA354151176CASRc.707G>C (p.Cys236Ser)
c.224G>C (p.Cys75Ser)
c.119G>C (p.Cys40Ser)
3g.122261742G=CA1397873025CASRc.707G= (p.Cys236=)
c.224G= (p.Cys75=)
c.119G= (p.Cys40=)
3g.122261742G>TCA354151177CASRc.707G>T (p.Cys236Phe)
c.224G>T (p.Cys75Phe)
c.119G>T (p.Cys40Phe)
 ClinVar dbSNP
3g.122261743C>ACA354151178CASRc.708C>A (p.Cys236Ter)
c.225C>A (p.Cys75Ter)
c.120C>A (p.Cys40Ter)
3g.122261743C>GCA354151179CASRc.708C>G (p.Cys236Trp)
c.225C>G (p.Cys75Trp)
c.120C>G (p.Cys40Trp)
3g.122261743C>TCA435424246CASRc.708C>T (p.Cys236=)
c.225C>T (p.Cys75=)
c.120C>T (p.Cys40=)

Number of alleles fetched