Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122261742_122261750delCA2586972803CASRc.707_715del (p.Cys236_Asp238del)
c.224_232del (p.Cys75_Asp77del)
c.119_127del (p.Cys40_Asp42del)
3g.122261744A>CCA354151182CASRc.709A>C (p.Ile237Leu)
c.226A>C (p.Ile76Leu)
c.121A>C (p.Ile41Leu)
3g.122261744A>GCA354151180CASRc.709A>G (p.Ile237Val)
c.226A>G (p.Ile76Val)
c.121A>G (p.Ile41Val)
3g.122261744A>TCA354151181CASRc.709A>T (p.Ile237Phe)
c.226A>T (p.Ile76Phe)
c.121A>T (p.Ile41Phe)
3g.122261745T>ACA354151183CASRc.710T>A (p.Ile237Asn)
c.227T>A (p.Ile76Asn)
c.122T>A (p.Ile41Asn)
3g.122261745T>CCA354151184CASRc.710T>C (p.Ile237Thr)
c.227T>C (p.Ile76Thr)
c.122T>C (p.Ile41Thr)
3g.122261745T>GCA354151185CASRc.710T>G (p.Ile237Ser)
c.227T>G (p.Ile76Ser)
c.122T>G (p.Ile41Ser)
3g.122261746C>ACA435424247CASRc.711C>A (p.Ile237=)
c.228C>A (p.Ile76=)
c.123C>A (p.Ile41=)
3g.122261746C=CA1397873028CASRc.711C= (p.Ile237=)
c.228C= (p.Ile76=)
c.123C= (p.Ile41=)
3g.122261746C>GCA354151186CASRc.711C>G (p.Ile237Met)
c.228C>G (p.Ile76Met)
c.123C>G (p.Ile41Met)
 ClinVar
3g.122261746C>TCA2569524CASRc.711C>T (p.Ile237=)
c.228C>T (p.Ile76=)
c.123C>T (p.Ile41=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261747G>ACA2569525CASRc.712G>A (p.Asp238Asn)
c.229G>A (p.Asp77Asn)
c.124G>A (p.Asp42Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261747G>CCA354151187CASRc.712G>C (p.Asp238His)
c.229G>C (p.Asp77His)
c.124G>C (p.Asp42His)
 ClinVar dbSNP
3g.122261747G=CA1397873031CASRc.712G= (p.Asp238=)
c.229G= (p.Asp77=)
c.124G= (p.Asp42=)
3g.122261747G>TCA354151188CASRc.712G>T (p.Asp238Tyr)
c.229G>T (p.Asp77Tyr)
c.124G>T (p.Asp42Tyr)
3g.122261748A>CCA354151189CASRc.713A>C (p.Asp238Ala)
c.230A>C (p.Asp77Ala)
c.125A>C (p.Asp42Ala)
3g.122261748A>GCA354151190CASRc.713A>G (p.Asp238Gly)
c.230A>G (p.Asp77Gly)
c.125A>G (p.Asp42Gly)
3g.122261748A>TCA354151191CASRc.713A>T (p.Asp238Val)
c.230A>T (p.Asp77Val)
c.125A>T (p.Asp42Val)
3g.122261749C>ACA354151192CASRc.714C>A (p.Asp238Glu)
c.231C>A (p.Asp77Glu)
c.126C>A (p.Asp42Glu)
3g.122261749C>GCA354151193CASRc.714C>G (p.Asp238Glu)
c.231C>G (p.Asp77Glu)
c.126C>G (p.Asp42Glu)
3g.122261749C>TCA435424248CASRc.714C>T (p.Asp238=)
c.231C>T (p.Asp77=)
c.126C>T (p.Asp42=)
 ClinVar gnomAD v4
3g.122261750T>ACA354151196CASRc.715T>A (p.Phe239Ile)
c.232T>A (p.Phe78Ile)
c.127T>A (p.Phe43Ile)
3g.122261750T>CCA354151195CASRc.715T>C (p.Phe239Leu)
c.232T>C (p.Phe78Leu)
c.127T>C (p.Phe43Leu)
3g.122261750T>GCA354151194CASRc.715T>G (p.Phe239Val)
c.232T>G (p.Phe78Val)
c.127T>G (p.Phe43Val)
 ClinVar
3g.122261751T>ACA354151197CASRc.716T>A (p.Phe239Tyr)
c.233T>A (p.Phe78Tyr)
c.128T>A (p.Phe43Tyr)
3g.122261751T>CCA354151198CASRc.716T>C (p.Phe239Ser)
c.233T>C (p.Phe78Ser)
c.128T>C (p.Phe43Ser)
3g.122261751T>GCA354151199CASRc.716T>G (p.Phe239Cys)
c.233T>G (p.Phe78Cys)
c.128T>G (p.Phe43Cys)
3g.122261752C>ACA354151200CASRc.717C>A (p.Phe239Leu)
c.234C>A (p.Phe78Leu)
c.129C>A (p.Phe43Leu)
3g.122261752C>GCA354151201CASRc.717C>G (p.Phe239Leu)
c.234C>G (p.Phe78Leu)
c.129C>G (p.Phe43Leu)
3g.122261752C>TCA435424249CASRc.717C>T (p.Phe239=)
c.234C>T (p.Phe78=)
c.129C>T (p.Phe43=)
 ClinVar dbSNP
3g.122261753A=CA1397873035CASRc.718A= (p.Ser240=)
c.235A= (p.Ser79=)
c.130A= (p.Ser44=)
3g.122261753A>CCA354151202CASRc.718A>C (p.Ser240Arg)
c.235A>C (p.Ser79Arg)
c.130A>C (p.Ser44Arg)
3g.122261753A>GCA82738383CASRc.718A>G (p.Ser240Gly)
c.235A>G (p.Ser79Gly)
c.130A>G (p.Ser44Gly)
 ClinVar dbSNP gnomAD v4
3g.122261753A>TCA354151203CASRc.718A>T (p.Ser240Cys)
c.235A>T (p.Ser79Cys)
c.130A>T (p.Ser44Cys)
3g.122261754G>ACA354151204CASRc.719G>A (p.Ser240Asn)
c.236G>A (p.Ser79Asn)
c.131G>A (p.Ser44Asn)
3g.122261754G>CCA2569526CASRc.719G>C (p.Ser240Thr)
c.236G>C (p.Ser79Thr)
c.131G>C (p.Ser44Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261754G=CA1397873036CASRc.719G= (p.Ser240=)
c.236G= (p.Ser79=)
c.131G= (p.Ser44=)
3g.122261754G>TCA354151205CASRc.719G>T (p.Ser240Ile)
c.236G>T (p.Ser79Ile)
c.131G>T (p.Ser44Ile)
3g.122261755T>ACA354151206CASRc.720T>A (p.Ser240Arg)
c.237T>A (p.Ser79Arg)
c.132T>A (p.Ser44Arg)
3g.122261755T>CCA435424250CASRc.720T>C (p.Ser240=)
c.237T>C (p.Ser79=)
c.132T>C (p.Ser44=)
 ClinVar gnomAD v4
3g.122261755T>GCA354151207CASRc.720T>G (p.Ser240Arg)
c.237T>G (p.Ser79Arg)
c.132T>G (p.Ser44Arg)
3g.122261756delCA2740094560CASRc.721del (p.Glu241AsnfsTer16)
c.238del (p.Glu80AsnfsTer16)
c.133del (p.Glu45AsnfsTer16)
 ClinVar
3g.122261756G>ACA354151209CASRc.721G>A (p.Glu241Lys)
c.238G>A (p.Glu80Lys)
c.133G>A (p.Glu45Lys)
 ClinVar dbSNP
3g.122261756G>CCA354151210CASRc.721G>C (p.Glu241Gln)
c.238G>C (p.Glu80Gln)
c.133G>C (p.Glu45Gln)
3g.122261756G>TCA354151208CASRc.721G>T (p.Glu241Ter)
c.238G>T (p.Glu80Ter)
c.133G>T (p.Glu45Ter)
3g.122261757A>CCA354151211CASRc.722A>C (p.Glu241Ala)
c.239A>C (p.Glu80Ala)
c.134A>C (p.Glu45Ala)
3g.122261757A>GCA354151213CASRc.722A>G (p.Glu241Gly)
c.239A>G (p.Glu80Gly)
c.134A>G (p.Glu45Gly)
3g.122261757A>TCA354151212CASRc.722A>T (p.Glu241Val)
c.239A>T (p.Glu80Val)
c.134A>T (p.Glu45Val)
 COSMIC
3g.122261758A>CCA354151214CASRc.723A>C (p.Glu241Asp)
c.240A>C (p.Glu80Asp)
c.135A>C (p.Glu45Asp)
3g.122261758A>GCA435424251CASRc.723A>G (p.Glu241=)
c.240A>G (p.Glu80=)
c.135A>G (p.Glu45=)
 gnomAD v4
3g.122261758A>TCA354151215CASRc.723A>T (p.Glu241Asp)
c.240A>T (p.Glu80Asp)
c.135A>T (p.Glu45Asp)
3g.122261759C>ACA354151216CASRc.724C>A (p.Leu242Ile)
c.241C>A (p.Leu81Ile)
c.136C>A (p.Leu46Ile)
3g.122261759C>GCA354151217CASRc.724C>G (p.Leu242Val)
c.241C>G (p.Leu81Val)
c.136C>G (p.Leu46Val)
3g.122261759C>TCA354151218CASRc.724C>T (p.Leu242Phe)
c.241C>T (p.Leu81Phe)
c.136C>T (p.Leu46Phe)
3g.122261760T>ACA354151219CASRc.725T>A (p.Leu242His)
c.242T>A (p.Leu81His)
c.137T>A (p.Leu46His)
3g.122261760T>CCA354151220CASRc.725T>C (p.Leu242Pro)
c.242T>C (p.Leu81Pro)
c.137T>C (p.Leu46Pro)
 ClinVar dbSNP
3g.122261760T>GCA16617815CASRc.725T>G (p.Leu242Arg)
c.242T>G (p.Leu81Arg)
c.137T>G (p.Leu46Arg)
 ClinVar dbSNP
3g.122261760T=CA1397873038CASRc.725T= (p.Leu242=)
c.242T= (p.Leu81=)
c.137T= (p.Leu46=)
3g.122261761C>ACA435424252CASRc.726C>A (p.Leu242=)
c.243C>A (p.Leu81=)
c.138C>A (p.Leu46=)
3g.122261761C=CA1397873039CASRc.726C= (p.Leu242=)
c.243C= (p.Leu81=)
c.138C= (p.Leu46=)
3g.122261761C>GCA435424253CASRc.726C>G (p.Leu242=)
c.243C>G (p.Leu81=)
c.138C>G (p.Leu46=)
3g.122261761C>TCA435424254CASRc.726C>T (p.Leu242=)
c.243C>T (p.Leu81=)
c.138C>T (p.Leu46=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261762A=CA1397873040CASRc.727A= (p.Ile243=)
c.244A= (p.Ile82=)
c.139A= (p.Ile47=)
3g.122261762A>CCA354151221CASRc.727A>C (p.Ile243Leu)
c.244A>C (p.Ile82Leu)
c.139A>C (p.Ile47Leu)
 ClinVar dbSNP gnomAD v2
3g.122261762A>GCA354151222CASRc.727A>G (p.Ile243Val)
c.244A>G (p.Ile82Val)
c.139A>G (p.Ile47Val)
 ClinVar
3g.122261762A>TCA354151223CASRc.727A>T (p.Ile243Phe)
c.244A>T (p.Ile82Phe)
c.139A>T (p.Ile47Phe)
3g.122261763T>ACA354151226CASRc.728T>A (p.Ile243Asn)
c.245T>A (p.Ile82Asn)
c.140T>A (p.Ile47Asn)
3g.122261763T>CCA354151225CASRc.728T>C (p.Ile243Thr)
c.245T>C (p.Ile82Thr)
c.140T>C (p.Ile47Thr)
3g.122261763T>GCA354151224CASRc.728T>G (p.Ile243Ser)
c.245T>G (p.Ile82Ser)
c.140T>G (p.Ile47Ser)
3g.122261764C>ACA435424267CASRc.729C>A (p.Ile243=)
c.246C>A (p.Ile82=)
c.141C>A (p.Ile47=)
3g.122261764C>GCA354151227CASRc.729C>G (p.Ile243Met)
c.246C>G (p.Ile82Met)
c.141C>G (p.Ile47Met)
 ClinVar
3g.122261764C>TCA435424265CASRc.729C>T (p.Ile243=)
c.246C>T (p.Ile82=)
c.141C>T (p.Ile47=)
 ClinVar dbSNP gnomAD v4
3g.122261765T>ACA354151228CASRc.730T>A (p.Ser244Thr)
c.247T>A (p.Ser83Thr)
c.142T>A (p.Ser48Thr)
3g.122261765T>CCA354151229CASRc.730T>C (p.Ser244Pro)
c.247T>C (p.Ser83Pro)
c.142T>C (p.Ser48Pro)
3g.122261765T>GCA354151230CASRc.730T>G (p.Ser244Ala)
c.247T>G (p.Ser83Ala)
c.142T>G (p.Ser48Ala)
3g.122261765_122261766delinsTCCA1397873042CASRc.730_731delinsTC (p.Ser244=)
c.247_248delinsTC (p.Ser83=)
c.142_143delinsTC (p.Ser48=)
3g.122261766C>ACA354151231CASRc.731C>A (p.Ser244Tyr)
c.248C>A (p.Ser83Tyr)
c.143C>A (p.Ser48Tyr)
3g.122261766C>GCA354151232CASRc.731C>G (p.Ser244Cys)
c.248C>G (p.Ser83Cys)
c.143C>G (p.Ser48Cys)
3g.122261766C>TCA354151233CASRc.731C>T (p.Ser244Phe)
c.248C>T (p.Ser83Phe)
c.143C>T (p.Ser48Phe)
 COSMIC
3g.122261768delCA1397873043CASRc.733del (p.Gln245SerfsTer12)
c.250del (p.Gln84SerfsTer12)
c.145del (p.Gln49SerfsTer12)
 dbSNP
3g.122261767C>ACA435424271CASRc.732C>A (p.Ser244=)
c.249C>A (p.Ser83=)
c.144C>A (p.Ser48=)
3g.122261767C=CA1397873044CASRc.732C= (p.Ser244=)
c.249C= (p.Ser83=)
c.144C= (p.Ser48=)
3g.122261767C>GCA435424272CASRc.732C>G (p.Ser244=)
c.249C>G (p.Ser83=)
c.144C>G (p.Ser48=)
 COSMIC
3g.122261767C>TCA435424273CASRc.732C>T (p.Ser244=)
c.249C>T (p.Ser83=)
c.144C>T (p.Ser48=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261768C>ACA354151234CASRc.733C>A (p.Gln245Lys)
c.250C>A (p.Gln84Lys)
c.145C>A (p.Gln49Lys)
 COSMIC
3g.122261768C=CA1397873046CASRc.733C= (p.Gln245=)
c.250C= (p.Gln84=)
c.145C= (p.Gln49=)
3g.122261768C>GCA354151235CASRc.733C>G (p.Gln245Glu)
c.250C>G (p.Gln84Glu)
c.145C>G (p.Gln49Glu)
3g.122261768C>TCA354151236CASRc.733C>T (p.Gln245Ter)
c.250C>T (p.Gln84Ter)
c.145C>T (p.Gln49Ter)
 ClinVar dbSNP
3g.122261769A>CCA354151237CASRc.734A>C (p.Gln245Pro)
c.251A>C (p.Gln84Pro)
c.146A>C (p.Gln49Pro)
 gnomAD v4
3g.122261769A>GCA354151238CASRc.734A>G (p.Gln245Arg)
c.251A>G (p.Gln84Arg)
c.146A>G (p.Gln49Arg)
 ClinVar
3g.122261769A>TCA354151239CASRc.734A>T (p.Gln245Leu)
c.251A>T (p.Gln84Leu)
c.146A>T (p.Gln49Leu)
3g.122261770G>ACA435424274CASRc.735G>A (p.Gln245=)
c.252G>A (p.Gln84=)
c.147G>A (p.Gln49=)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122261770G>CCA354151240CASRc.735G>C (p.Gln245His)
c.252G>C (p.Gln84His)
c.147G>C (p.Gln49His)
3g.122261770G=CA1397873048CASRc.735G= (p.Gln245=)
c.252G= (p.Gln84=)
c.147G= (p.Gln49=)
3g.122261770G>TCA354151241CASRc.735G>T (p.Gln245His)
c.252G>T (p.Gln84His)
c.147G>T (p.Gln49His)
3g.122261771T>ACA354151242CASRc.736T>A (p.Tyr246Asn)
c.253T>A (p.Tyr85Asn)
c.148T>A (p.Tyr50Asn)
3g.122261771T>CCA354151243CASRc.736T>C (p.Tyr246His)
c.253T>C (p.Tyr85His)
c.148T>C (p.Tyr50His)
3g.122261771T>GCA354151244CASRc.736T>G (p.Tyr246Asp)
c.253T>G (p.Tyr85Asp)
c.148T>G (p.Tyr50Asp)
3g.122261772A>CCA354151245CASRc.737A>C (p.Tyr246Ser)
c.254A>C (p.Tyr85Ser)
c.149A>C (p.Tyr50Ser)
3g.122261772A>GCA354151246CASRc.737A>G (p.Tyr246Cys)
c.254A>G (p.Tyr85Cys)
c.149A>G (p.Tyr50Cys)
3g.122261772A>TCA354151247CASRc.737A>T (p.Tyr246Phe)
c.254A>T (p.Tyr85Phe)
c.149A>T (p.Tyr50Phe)
3g.122261773C>ACA354151248CASRc.738C>A (p.Tyr246Ter)
c.255C>A (p.Tyr85Ter)
c.150C>A (p.Tyr50Ter)
3g.122261773C=CA1397873050CASRc.738C= (p.Tyr246=)
c.255C= (p.Tyr85=)
c.150C= (p.Tyr50=)
3g.122261773C>GCA82738393CASRc.738C>G (p.Tyr246Ter)
c.255C>G (p.Tyr85Ter)
c.150C>G (p.Tyr50Ter)
 dbSNP
3g.122261773C>TCA82738398CASRc.738C>T (p.Tyr246=)
c.255C>T (p.Tyr85=)
c.150C>T (p.Tyr50=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261774T>ACA354151249CASRc.739T>A (p.Ser247Thr)
c.256T>A (p.Ser86Thr)
c.151T>A (p.Ser51Thr)
3g.122261774T>CCA82738406CASRc.739T>C (p.Ser247Pro)
c.256T>C (p.Ser86Pro)
c.151T>C (p.Ser51Pro)
 dbSNP gnomAD v4
3g.122261774T>GCA354151250CASRc.739T>G (p.Ser247Ala)
c.256T>G (p.Ser86Ala)
c.151T>G (p.Ser51Ala)
3g.122261774T=CA1397873053CASRc.739T= (p.Ser247=)
c.256T= (p.Ser86=)
c.151T= (p.Ser51=)
3g.122261775C>ACA354151251CASRc.740C>A (p.Ser247Tyr)
c.257C>A (p.Ser86Tyr)
c.152C>A (p.Ser51Tyr)
3g.122261775C=CA1397873055CASRc.740C= (p.Ser247=)
c.257C= (p.Ser86=)
c.152C= (p.Ser51=)
3g.122261775C>GCA354151252CASRc.740C>G (p.Ser247Cys)
c.257C>G (p.Ser86Cys)
c.152C>G (p.Ser51Cys)
3g.122261775C>TCA216140CASRc.740C>T (p.Ser247Phe)
c.257C>T (p.Ser86Phe)
c.152C>T (p.Ser51Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261776T>ACA435424279CASRc.741T>A (p.Ser247=)
c.258T>A (p.Ser86=)
c.153T>A (p.Ser51=)
3g.122261776T>CCA435424280CASRc.741T>C (p.Ser247=)
c.258T>C (p.Ser86=)
c.153T>C (p.Ser51=)
3g.122261776T>GCA435424281CASRc.741T>G (p.Ser247=)
c.258T>G (p.Ser86=)
c.153T>G (p.Ser51=)
3g.122261776dupCA2586972804CASRc.741dup (p.Asp248Ter)
c.258dup (p.Asp87Ter)
c.153dup (p.Asp52Ter)
 ClinVar gnomAD v4
3g.122261777G>ACA354151253CASRc.742G>A (p.Asp248Asn)
c.259G>A (p.Asp87Asn)
c.154G>A (p.Asp52Asn)
 gnomAD v4 COSMIC
3g.122261777G>CCA354151255CASRc.742G>C (p.Asp248His)
c.259G>C (p.Asp87His)
c.154G>C (p.Asp52His)
 COSMIC
3g.122261777G>TCA354151254CASRc.742G>T (p.Asp248Tyr)
c.259G>T (p.Asp87Tyr)
c.154G>T (p.Asp52Tyr)
3g.122261778A>CCA354151256CASRc.743A>C (p.Asp248Ala)
c.260A>C (p.Asp87Ala)
c.155A>C (p.Asp52Ala)
3g.122261778A>GCA354151257CASRc.743A>G (p.Asp248Gly)
c.260A>G (p.Asp87Gly)
c.155A>G (p.Asp52Gly)
3g.122261778A>TCA354151258CASRc.743A>T (p.Asp248Val)
c.260A>T (p.Asp87Val)
c.155A>T (p.Asp52Val)
3g.122261779T>ACA354151259CASRc.744T>A (p.Asp248Glu)
c.261T>A (p.Asp87Glu)
c.156T>A (p.Asp52Glu)
 gnomAD v4
3g.122261779T>CCA435424285CASRc.744T>C (p.Asp248=)
c.261T>C (p.Asp87=)
c.156T>C (p.Asp52=)
3g.122261779T>GCA354151260CASRc.744T>G (p.Asp248Glu)
c.261T>G (p.Asp87Glu)
c.156T>G (p.Asp52Glu)
3g.122261779_122261782delinsTGAGCA1397873057CASRc.744_747delinsTGAG (p.Asp248=)
c.261_264delinsTGAG (p.Asp87=)
c.156_159delinsTGAG (p.Asp52=)
3g.122261780G>ACA354151261CASRc.745G>A (p.Glu249Lys)
c.262G>A (p.Glu88Lys)
c.157G>A (p.Glu53Lys)
3g.122261780G>CCA354151262CASRc.745G>C (p.Glu249Gln)
c.262G>C (p.Glu88Gln)
c.157G>C (p.Glu53Gln)
3g.122261780G>TCA354151263CASRc.745G>T (p.Glu249Ter)
c.262G>T (p.Glu88Ter)
c.157G>T (p.Glu53Ter)
3g.122261782_122261784delCA1397873058CASRc.747_749del (p.Glu250del)
c.264_266del (p.Glu89del)
c.159_161del (p.Glu54del)
 ClinVar dbSNP
3g.122261781A>CCA354151264CASRc.746A>C (p.Glu249Ala)
c.263A>C (p.Glu88Ala)
c.158A>C (p.Glu53Ala)
3g.122261781A>GCA354151265CASRc.746A>G (p.Glu249Gly)
c.263A>G (p.Glu88Gly)
c.158A>G (p.Glu53Gly)
3g.122261781A>TCA354151266CASRc.746A>T (p.Glu249Val)
c.263A>T (p.Glu88Val)
c.158A>T (p.Glu53Val)
 ClinVar
3g.122261782G>ACA2569527CASRc.747G>A (p.Glu249=)
c.264G>A (p.Glu88=)
c.159G>A (p.Glu53=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261782G>CCA354151268CASRc.747G>C (p.Glu249Asp)
c.264G>C (p.Glu88Asp)
c.159G>C (p.Glu53Asp)
3g.122261782G=CA1397873059CASRc.747G= (p.Glu249=)
c.264G= (p.Glu88=)
c.159G= (p.Glu53=)
3g.122261782G>TCA354151267CASRc.747G>T (p.Glu249Asp)
c.264G>T (p.Glu88Asp)
c.159G>T (p.Glu53Asp)
3g.122261783G>ACA202250CASRc.748G>A (p.Glu250Lys)
c.265G>A (p.Glu89Lys)
c.160G>A (p.Glu54Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261783G>CCA354151270CASRc.748G>C (p.Glu250Gln)
c.265G>C (p.Glu89Gln)
c.160G>C (p.Glu54Gln)
3g.122261783G=CA1397873061CASRc.748G= (p.Glu250=)
c.265G= (p.Glu89=)
c.160G= (p.Glu54=)
3g.122261783G>TCA354151269CASRc.748G>T (p.Glu250Ter)
c.265G>T (p.Glu89Ter)
c.160G>T (p.Glu54Ter)
3g.122261784A=CA1397873064CASRc.749A= (p.Glu250=)
c.266A= (p.Glu89=)
c.161A= (p.Glu54=)
3g.122261784A>CCA354151271CASRc.749A>C (p.Glu250Ala)
c.266A>C (p.Glu89Ala)
c.161A>C (p.Glu54Ala)
3g.122261784A>GCA354151272CASRc.749A>G (p.Glu250Gly)
c.266A>G (p.Glu89Gly)
c.161A>G (p.Glu54Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261784A>TCA354151273CASRc.749A>T (p.Glu250Val)
c.266A>T (p.Glu89Val)
c.161A>T (p.Glu54Val)
3g.122261785A>CCA354151274CASRc.750A>C (p.Glu250Asp)
c.267A>C (p.Glu89Asp)
c.162A>C (p.Glu54Asp)
 ClinVar gnomAD v3 gnomAD v4
3g.122261785A>GCA435424287CASRc.750A>G (p.Glu250=)
c.267A>G (p.Glu89=)
c.162A>G (p.Glu54=)
3g.122261785A>TCA354151275CASRc.750A>T (p.Glu250Asp)
c.267A>T (p.Glu89Asp)
c.162A>T (p.Glu54Asp)
3g.122261786G>ACA354151276CASRc.751G>A (p.Glu251Lys)
c.268G>A (p.Glu90Lys)
c.163G>A (p.Glu55Lys)
 gnomAD v4
3g.122261786G>CCA16611086CASRc.751G>C (p.Glu251Gln)
c.268G>C (p.Glu90Gln)
c.163G>C (p.Glu55Gln)
 ClinVar dbSNP
3g.122261786G=CA1397873066CASRc.751G= (p.Glu251=)
c.268G= (p.Glu90=)
c.163G= (p.Glu55=)
3g.122261786G>TCA354151277CASRc.751G>T (p.Glu251Ter)
c.268G>T (p.Glu90Ter)
c.163G>T (p.Glu55Ter)
3g.122261786_122261790delCA2522536752CASRc.751_755del (p.Glu251ProfsTer25)
c.268_272del (p.Glu90ProfsTer25)
c.163_167del (p.Glu55ProfsTer25)
3g.122261787A=CA1397873069CASRc.752A= (p.Glu251=)
c.269A= (p.Glu90=)
c.164A= (p.Glu55=)
3g.122261787A>CCA354151278CASRc.752A>C (p.Glu251Ala)
c.269A>C (p.Glu90Ala)
c.164A>C (p.Glu55Ala)
3g.122261787A>GCA2569528CASRc.752A>G (p.Glu251Gly)
c.269A>G (p.Glu90Gly)
c.164A>G (p.Glu55Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261787A>TCA354151279CASRc.752A>T (p.Glu251Val)
c.269A>T (p.Glu90Val)
c.164A>T (p.Glu55Val)
3g.122261788G>ACA435424290CASRc.753G>A (p.Glu251=)
c.270G>A (p.Glu90=)
c.165G>A (p.Glu55=)
 ClinVar gnomAD v4 COSMIC
3g.122261788G>CCA354151280CASRc.753G>C (p.Glu251Asp)
c.270G>C (p.Glu90Asp)
c.165G>C (p.Glu55Asp)
 ClinVar dbSNP gnomAD v4
3g.122261788G=CA1397873071CASRc.753G= (p.Glu251=)
c.270G= (p.Glu90=)
c.165G= (p.Glu55=)
3g.122261788G>TCA354151281CASRc.753G>T (p.Glu251Asp)
c.270G>T (p.Glu90Asp)
c.165G>T (p.Glu55Asp)
3g.122261789A>CCA354151284CASRc.754A>C (p.Ile252Leu)
c.271A>C (p.Ile91Leu)
c.166A>C (p.Ile56Leu)
3g.122261789A>GCA354151283CASRc.754A>G (p.Ile252Val)
c.271A>G (p.Ile91Val)
c.166A>G (p.Ile56Val)
 ClinVar dbSNP
3g.122261789A>TCA354151282CASRc.754A>T (p.Ile252Phe)
c.271A>T (p.Ile91Phe)
c.166A>T (p.Ile56Phe)
 ClinVar
3g.122261790T>ACA354151285CASRc.755T>A (p.Ile252Asn)
c.272T>A (p.Ile91Asn)
c.167T>A (p.Ile56Asn)
 ClinVar dbSNP gnomAD v4
3g.122261790T>CCA354151286CASRc.755T>C (p.Ile252Thr)
c.272T>C (p.Ile91Thr)
c.167T>C (p.Ile56Thr)
3g.122261790T>GCA354151287CASRc.755T>G (p.Ile252Ser)
c.272T>G (p.Ile91Ser)
c.167T>G (p.Ile56Ser)
3g.122261790T=CA1397873074CASRc.755T= (p.Ile252=)
c.272T= (p.Ile91=)
c.167T= (p.Ile56=)
3g.122261791C>ACA435424293CASRc.756C>A (p.Ile252=)
c.273C>A (p.Ile91=)
c.168C>A (p.Ile56=)
 ClinVar dbSNP
3g.122261791C=CA1397873075CASRc.756C= (p.Ile252=)
c.273C= (p.Ile91=)
c.168C= (p.Ile56=)
3g.122261791C>GCA354151288CASRc.756C>G (p.Ile252Met)
c.273C>G (p.Ile91Met)
c.168C>G (p.Ile56Met)
 ClinVar
3g.122261791C>TCA82738476CASRc.756C>T (p.Ile252=)
c.273C>T (p.Ile91=)
c.168C>T (p.Ile56=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261792C>ACA2569529CASRc.757C>A (p.Gln253Lys)
c.274C>A (p.Gln92Lys)
c.169C>A (p.Gln57Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261792C=CA1397873078CASRc.757C= (p.Gln253=)
c.274C= (p.Gln92=)
c.169C= (p.Gln57=)
3g.122261792C>GCA354151289CASRc.757C>G (p.Gln253Glu)
c.274C>G (p.Gln92Glu)
c.169C>G (p.Gln57Glu)
3g.122261792C>TCA354151290CASRc.757C>T (p.Gln253Ter)
c.274C>T (p.Gln92Ter)
c.169C>T (p.Gln57Ter)
 gnomAD v4
3g.122261793A=CA1397873080CASRc.758A= (p.Gln253=)
c.275A= (p.Gln92=)
c.170A= (p.Gln57=)
3g.122261793A>CCA354151291CASRc.758A>C (p.Gln253Pro)
c.275A>C (p.Gln92Pro)
c.170A>C (p.Gln57Pro)
3g.122261793A>GCA354151292CASRc.758A>G (p.Gln253Arg)
c.275A>G (p.Gln92Arg)
c.170A>G (p.Gln57Arg)
3g.122261793A>TCA2569530CASRc.758A>T (p.Gln253Leu)
c.275A>T (p.Gln92Leu)
c.170A>T (p.Gln57Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261794G>ACA435424297CASRc.759G>A (p.Gln253=)
c.276G>A (p.Gln92=)
c.171G>A (p.Gln57=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122261794G>CCA354151293CASRc.759G>C (p.Gln253His)
c.276G>C (p.Gln92His)
c.171G>C (p.Gln57His)
 dbSNP
3g.122261794G=CA1397873082CASRc.759G= (p.Gln253=)
c.276G= (p.Gln92=)
c.171G= (p.Gln57=)
3g.122261794G>TCA354151294CASRc.759G>T (p.Gln253His)
c.276G>T (p.Gln92His)
c.171G>T (p.Gln57His)
3g.122261795C>ACA354151296CASRc.760C>A (p.His254Asn)
c.277C>A (p.His93Asn)
c.172C>A (p.His58Asn)
3g.122261795C>GCA354151297CASRc.760C>G (p.His254Asp)
c.277C>G (p.His93Asp)
c.172C>G (p.His58Asp)
3g.122261795C>TCA354151295CASRc.760C>T (p.His254Tyr)
c.277C>T (p.His93Tyr)
c.172C>T (p.His58Tyr)
3g.122261796A>CCA354151298CASRc.761A>C (p.His254Pro)
c.278A>C (p.His93Pro)
c.173A>C (p.His58Pro)
3g.122261796A>GCA354151299CASRc.761A>G (p.His254Arg)
c.278A>G (p.His93Arg)
c.173A>G (p.His58Arg)
3g.122261796A>TCA354151300CASRc.761A>T (p.His254Leu)
c.278A>T (p.His93Leu)
c.173A>T (p.His58Leu)
3g.122261797T>ACA354151301CASRc.762T>A (p.His254Gln)
c.279T>A (p.His93Gln)
c.174T>A (p.His58Gln)
3g.122261797T>CCA2569531CASRc.762T>C (p.His254=)
c.279T>C (p.His93=)
c.174T>C (p.His58=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261797T>GCA354151302CASRc.762T>G (p.His254Gln)
c.279T>G (p.His93Gln)
c.174T>G (p.His58Gln)
3g.122261797T=CA1397873084CASRc.762T= (p.His254=)
c.279T= (p.His93=)
c.174T= (p.His58=)
3g.122261798G>ACA354151303CASRc.763G>A (p.Val255Met)
c.280G>A (p.Val94Met)
c.175G>A (p.Val59Met)
3g.122261798G>CCA354151304CASRc.763G>C (p.Val255Leu)
c.280G>C (p.Val94Leu)
c.175G>C (p.Val59Leu)
3g.122261798G>TCA354151305CASRc.763G>T (p.Val255Leu)
c.280G>T (p.Val94Leu)
c.175G>T (p.Val59Leu)
 gnomAD v4
3g.122261799T>ACA354151306CASRc.764T>A (p.Val255Glu)
c.281T>A (p.Val94Glu)
c.176T>A (p.Val59Glu)
3g.122261799T>CCA354151307CASRc.764T>C (p.Val255Ala)
c.281T>C (p.Val94Ala)
c.176T>C (p.Val59Ala)
3g.122261799T>GCA354151308CASRc.764T>G (p.Val255Gly)
c.281T>G (p.Val94Gly)
c.176T>G (p.Val59Gly)
3g.122261800G>ACA435424308CASRc.765G>A (p.Val255=)
c.282G>A (p.Val94=)
c.177G>A (p.Val59=)
 ClinVar dbSNP
3g.122261800G>CCA435424309CASRc.765G>C (p.Val255=)
c.282G>C (p.Val94=)
c.177G>C (p.Val59=)
3g.122261800G>TCA435424310CASRc.765G>T (p.Val255=)
c.282G>T (p.Val94=)
c.177G>T (p.Val59=)
3g.122261801G>ACA354151311CASRc.766G>A (p.Val256Ile)
c.283G>A (p.Val95Ile)
c.178G>A (p.Val60Ile)
 ClinVar gnomAD v4
3g.122261801G>CCA354151309CASRc.766G>C (p.Val256Leu)
c.283G>C (p.Val95Leu)
c.178G>C (p.Val60Leu)
3g.122261801G>TCA354151310CASRc.766G>T (p.Val256Leu)
c.283G>T (p.Val95Leu)
c.178G>T (p.Val60Leu)
3g.122261802T>ACA354151312CASRc.767T>A (p.Val256Glu)
c.284T>A (p.Val95Glu)
c.179T>A (p.Val60Glu)
3g.122261802T>CCA354151313CASRc.767T>C (p.Val256Ala)
c.284T>C (p.Val95Ala)
c.179T>C (p.Val60Ala)
 ClinVar dbSNP gnomAD v4
3g.122261802T>GCA354151314CASRc.767T>G (p.Val256Gly)
c.284T>G (p.Val95Gly)
c.179T>G (p.Val60Gly)
3g.122261802T=CA1397873086CASRc.767T= (p.Val256=)
c.284T= (p.Val95=)
c.179T= (p.Val60=)
3g.122261803A>CCA435424319CASRc.768A>C (p.Val256=)
c.285A>C (p.Val95=)
c.180A>C (p.Val60=)
3g.122261803A>GCA435424321CASRc.768A>G (p.Val256=)
c.285A>G (p.Val95=)
c.180A>G (p.Val60=)
 dbSNP
3g.122261803A>TCA435424322CASRc.768A>T (p.Val256=)
c.285A>T (p.Val95=)
c.180A>T (p.Val60=)
3g.122261804G>ACA354151315CASRc.769G>A (p.Glu257Lys)
c.286G>A (p.Glu96Lys)
c.181G>A (p.Glu61Lys)
3g.122261804G>CCA354151316CASRc.769G>C (p.Glu257Gln)
c.286G>C (p.Glu96Gln)
c.181G>C (p.Glu61Gln)
3g.122261804G>TCA354151317CASRc.769G>T (p.Glu257Ter)
c.286G>T (p.Glu96Ter)
c.181G>T (p.Glu61Ter)
3g.122261805A=CA1397873087CASRc.770A= (p.Glu257=)
c.287A= (p.Glu96=)
c.182A= (p.Glu61=)
3g.122261805A>CCA354151318CASRc.770A>C (p.Glu257Ala)
c.287A>C (p.Glu96Ala)
c.182A>C (p.Glu61Ala)
3g.122261805A>GCA2569532CASRc.770A>G (p.Glu257Gly)
c.287A>G (p.Glu96Gly)
c.182A>G (p.Glu61Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261805A>TCA354151319CASRc.770A>T (p.Glu257Val)
c.287A>T (p.Glu96Val)
c.182A>T (p.Glu61Val)
3g.122261806G>ACA435424329CASRc.771G>A (p.Glu257=)
c.288G>A (p.Glu96=)
c.183G>A (p.Glu61=)
3g.122261806G>CCA354151320CASRc.771G>C (p.Glu257Asp)
c.288G>C (p.Glu96Asp)
c.183G>C (p.Glu61Asp)
3g.122261806G>TCA354151321CASRc.771G>T (p.Glu257Asp)
c.288G>T (p.Glu96Asp)
c.183G>T (p.Glu61Asp)
3g.122261807G>ACA354151324CASRc.772G>A (p.Val258Met)
c.289G>A (p.Val97Met)
c.184G>A (p.Val62Met)
3g.122261807G>CCA354151323CASRc.772G>C (p.Val258Leu)
c.289G>C (p.Val97Leu)
c.184G>C (p.Val62Leu)
3g.122261807G>TCA354151322CASRc.772G>T (p.Val258Leu)
c.289G>T (p.Val97Leu)
c.184G>T (p.Val62Leu)
3g.122261807_122261808delinsACA2580068638CASRc.772_773delinsA (p.Val258ArgfsTer?)
c.289_290delinsA (p.Val97ArgfsTer?)
c.184_185delinsA (p.Val62ArgfsTer?)
 ClinVar
3g.122261808T>ACA354151325CASRc.773T>A (p.Val258Glu)
c.290T>A (p.Val97Glu)
c.185T>A (p.Val62Glu)
 gnomAD v4
3g.122261808T>CCA2569533CASRc.773T>C (p.Val258Ala)
c.290T>C (p.Val97Ala)
c.185T>C (p.Val62Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122261808T>GCA354151326CASRc.773T>G (p.Val258Gly)
c.290T>G (p.Val97Gly)
c.185T>G (p.Val62Gly)
3g.122261808T=CA1397873089CASRc.773T= (p.Val258=)
c.290T= (p.Val97=)
c.185T= (p.Val62=)
3g.122261809G>ACA435424339CASRc.774G>A (p.Val258=)
c.291G>A (p.Val97=)
c.186G>A (p.Val62=)
3g.122261809G>CCA435424340CASRc.774G>C (p.Val258=)
c.291G>C (p.Val97=)
c.186G>C (p.Val62=)
3g.122261809G>TCA435424341CASRc.774G>T (p.Val258=)
c.291G>T (p.Val97=)
c.186G>T (p.Val62=)
3g.122261810A>CCA354151327CASRc.775A>C (p.Ile259Leu)
c.292A>C (p.Ile98Leu)
c.187A>C (p.Ile63Leu)
3g.122261810A>GCA354151328CASRc.775A>G (p.Ile259Val)
c.292A>G (p.Ile98Val)
c.187A>G (p.Ile63Val)
3g.122261810A>TCA354151329CASRc.775A>T (p.Ile259Phe)
c.292A>T (p.Ile98Phe)
c.187A>T (p.Ile63Phe)
3g.122261811T>ACA354151330CASRc.776T>A (p.Ile259Asn)
c.293T>A (p.Ile98Asn)
c.188T>A (p.Ile63Asn)
3g.122261811T>CCA354151331CASRc.776T>C (p.Ile259Thr)
c.293T>C (p.Ile98Thr)
c.188T>C (p.Ile63Thr)
 ClinVar dbSNP gnomAD v2
3g.122261811T>GCA354151332CASRc.776T>G (p.Ile259Ser)
c.293T>G (p.Ile98Ser)
c.188T>G (p.Ile63Ser)
3g.122261811T=CA1397873091CASRc.776T= (p.Ile259=)
c.293T= (p.Ile98=)
c.188T= (p.Ile63=)
3g.122261812T>ACA435424347CASRc.777T>A (p.Ile259=)
c.294T>A (p.Ile98=)
c.189T>A (p.Ile63=)
3g.122261812T>CCA435424348CASRc.777T>C (p.Ile259=)
c.294T>C (p.Ile98=)
c.189T>C (p.Ile63=)
3g.122261812T>GCA354151333CASRc.777T>G (p.Ile259Met)
c.294T>G (p.Ile98Met)
c.189T>G (p.Ile63Met)
3g.122261813C>ACA354151334CASRc.778C>A (p.Gln260Lys)
c.295C>A (p.Gln99Lys)
c.190C>A (p.Gln64Lys)
3g.122261813C=CA1397873092CASRc.778C= (p.Gln260=)
c.295C= (p.Gln99=)
c.190C= (p.Gln64=)
3g.122261813C>GCA354151335CASRc.778C>G (p.Gln260Glu)
c.295C>G (p.Gln99Glu)
c.190C>G (p.Gln64Glu)
 ClinVar dbSNP gnomAD v4
3g.122261813C>TCA354151336CASRc.778C>T (p.Gln260Ter)
c.295C>T (p.Gln99Ter)
c.190C>T (p.Gln64Ter)
3g.122261814A=CA1397873095CASRc.779A= (p.Gln260=)
c.296A= (p.Gln99=)
c.191A= (p.Gln64=)
3g.122261814A>CCA354151337CASRc.779A>C (p.Gln260Pro)
c.296A>C (p.Gln99Pro)
c.191A>C (p.Gln64Pro)
3g.122261814A>GCA2569534CASRc.779A>G (p.Gln260Arg)
c.296A>G (p.Gln99Arg)
c.191A>G (p.Gln64Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122261814A>TCA354151338CASRc.779A>T (p.Gln260Leu)
c.296A>T (p.Gln99Leu)
c.191A>T (p.Gln64Leu)
3g.122261815A=CA1397873097CASRc.780A= (p.Gln260=)
c.297A= (p.Gln99=)
c.192A= (p.Gln64=)
3g.122261815A>CCA354151339CASRc.780A>C (p.Gln260His)
c.297A>C (p.Gln99His)
c.192A>C (p.Gln64His)
3g.122261815A>GCA16611290CASRc.780A>G (p.Gln260=)
c.297A>G (p.Gln99=)
c.192A>G (p.Gln64=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261815A>TCA354151340CASRc.780A>T (p.Gln260His)
c.297A>T (p.Gln99His)
c.192A>T (p.Gln64His)
3g.122261816A>CCA354151341CASRc.781A>C (p.Asn261His)
c.298A>C (p.Asn100His)
c.193A>C (p.Asn65His)
3g.122261816A>GCA354151342CASRc.781A>G (p.Asn261Asp)
c.298A>G (p.Asn100Asp)
c.193A>G (p.Asn65Asp)
3g.122261816A>TCA354151343CASRc.781A>T (p.Asn261Tyr)
c.298A>T (p.Asn100Tyr)
c.193A>T (p.Asn65Tyr)
3g.122261817A=CA1397873099CASRc.782A= (p.Asn261=)
c.299A= (p.Asn100=)
c.194A= (p.Asn65=)
3g.122261817A>CCA354151344CASRc.782A>C (p.Asn261Thr)
c.299A>C (p.Asn100Thr)
c.194A>C (p.Asn65Thr)
 ClinVar dbSNP
3g.122261817A>GCA354151345CASRc.782A>G (p.Asn261Ser)
c.299A>G (p.Asn100Ser)
c.194A>G (p.Asn65Ser)
3g.122261817A>TCA354151346CASRc.782A>T (p.Asn261Ile)
c.299A>T (p.Asn100Ile)
c.194A>T (p.Asn65Ile)
3g.122261818T>ACA354151347CASRc.783T>A (p.Asn261Lys)
c.300T>A (p.Asn100Lys)
c.195T>A (p.Asn65Lys)
3g.122261818T>CCA435424356CASRc.783T>C (p.Asn261=)
c.300T>C (p.Asn100=)
c.195T>C (p.Asn65=)
 ClinVar dbSNP
3g.122261818T>GCA354151348CASRc.783T>G (p.Asn261Lys)
c.300T>G (p.Asn100Lys)
c.195T>G (p.Asn65Lys)
3g.122261818T=CA1397873100CASRc.783T= (p.Asn261=)
c.300T= (p.Asn100=)
c.195T= (p.Asn65=)
3g.122261819T>ACA354151349CASRc.784T>A (p.Ser262Thr)
c.301T>A (p.Ser101Thr)
c.196T>A (p.Ser66Thr)
3g.122261819T>CCA354151350CASRc.784T>C (p.Ser262Pro)
c.301T>C (p.Ser101Pro)
c.196T>C (p.Ser66Pro)
3g.122261819T>GCA354151351CASRc.784T>G (p.Ser262Ala)
c.301T>G (p.Ser101Ala)
c.196T>G (p.Ser66Ala)
3g.122261820C>ACA354151353CASRc.785C>A (p.Ser262Tyr)
c.302C>A (p.Ser101Tyr)
c.197C>A (p.Ser66Tyr)
3g.122261820C>GCA354151354CASRc.785C>G (p.Ser262Cys)
c.302C>G (p.Ser101Cys)
c.197C>G (p.Ser66Cys)
3g.122261820C>TCA354151352CASRc.785C>T (p.Ser262Phe)
c.302C>T (p.Ser101Phe)
c.197C>T (p.Ser66Phe)
3g.122261821C>ACA435424364CASRc.786C>A (p.Ser262=)
c.303C>A (p.Ser101=)
c.198C>A (p.Ser66=)
3g.122261821C>GCA435424365CASRc.786C>G (p.Ser262=)
c.303C>G (p.Ser101=)
c.198C>G (p.Ser66=)
3g.122261821C>TCA435424368CASRc.786C>T (p.Ser262=)
c.303C>T (p.Ser101=)
c.198C>T (p.Ser66=)
3g.122261822A=CA1397873102CASRc.787A= (p.Thr263=)
c.304A= (p.Thr102=)
c.199A= (p.Thr67=)
3g.122261822A>CCA354151355CASRc.787A>C (p.Thr263Pro)
c.304A>C (p.Thr102Pro)
c.199A>C (p.Thr67Pro)
3g.122261822A>GCA354151356CASRc.787A>G (p.Thr263Ala)
c.304A>G (p.Thr102Ala)
c.199A>G (p.Thr67Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122261822A>TCA354151357CASRc.787A>T (p.Thr263Ser)
c.304A>T (p.Thr102Ser)
c.199A>T (p.Thr67Ser)
3g.122261823C>ACA2569536CASRc.788C>A (p.Thr263Lys)
c.305C>A (p.Thr102Lys)
c.200C>A (p.Thr67Lys)
 dbSNP ExAC
3g.122261823C=CA1397873104CASRc.788C= (p.Thr263=)
c.305C= (p.Thr102=)
c.200C= (p.Thr67=)
3g.122261823C>GCA354151358CASRc.788C>G (p.Thr263Arg)
c.305C>G (p.Thr102Arg)
c.200C>G (p.Thr67Arg)
3g.122261823C>TCA2569535CASRc.788C>T (p.Thr263Met)
c.305C>T (p.Thr102Met)
c.200C>T (p.Thr67Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122261824G>ACA82738552CASRc.789G>A (p.Thr263=)
c.306G>A (p.Thr102=)
c.201G>A (p.Thr67=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122261824G>CCA435424372CASRc.789G>C (p.Thr263=)
c.306G>C (p.Thr102=)
c.201G>C (p.Thr67=)
3g.122261824G=CA1397873106CASRc.789G= (p.Thr263=)
c.306G= (p.Thr102=)
c.201G= (p.Thr67=)
3g.122261824G>TCA435424374CASRc.789G>T (p.Thr263=)
c.306G>T (p.Thr102=)
c.201G>T (p.Thr67=)
 gnomAD v4
3g.122261825G>ACA354151359CASRc.790G>A (p.Ala264Thr)
c.307G>A (p.Ala103Thr)
c.202G>A (p.Ala68Thr)
 ClinVar COSMIC
3g.122261825G>CCA354151360CASRc.790G>C (p.Ala264Pro)
c.307G>C (p.Ala103Pro)
c.202G>C (p.Ala68Pro)
3g.122261825G>TCA354151361CASRc.790G>T (p.Ala264Ser)
c.307G>T (p.Ala103Ser)
c.202G>T (p.Ala68Ser)
3g.122261826C>ACA354151362CASRc.791C>A (p.Ala264Asp)
c.308C>A (p.Ala103Asp)
c.203C>A (p.Ala68Asp)
3g.122261826C>GCA354151363CASRc.791C>G (p.Ala264Gly)
c.308C>G (p.Ala103Gly)
c.203C>G (p.Ala68Gly)
 ClinVar
3g.122261826C>TCA354151364CASRc.791C>T (p.Ala264Val)
c.308C>T (p.Ala103Val)
c.203C>T (p.Ala68Val)
 ClinVar gnomAD v4
3g.122261827delCA2603853746CASRc.792del (p.Val266SerfsTer?)
c.309del (p.Val105SerfsTer?)
c.204del (p.Val70SerfsTer?)
 gnomAD v3 gnomAD v4
3g.122261827C>ACA435424375CASRc.792C>A (p.Ala264=)
c.309C>A (p.Ala103=)
c.204C>A (p.Ala68=)
3g.122261827C>GCA435424376CASRc.792C>G (p.Ala264=)
c.309C>G (p.Ala103=)
c.204C>G (p.Ala68=)
3g.122261827C>TCA435424377CASRc.792C>T (p.Ala264=)
c.309C>T (p.Ala103=)
c.204C>T (p.Ala68=)
3g.122261828A>CCA354151367CASRc.793A>C (p.Lys265Gln)
c.310A>C (p.Lys104Gln)
c.205A>C (p.Lys69Gln)
3g.122261828A>GCA354151366CASRc.793A>G (p.Lys265Glu)
c.310A>G (p.Lys104Glu)
c.205A>G (p.Lys69Glu)
3g.122261828A>TCA354151365CASRc.793A>T (p.Lys265Ter)
c.310A>T (p.Lys104Ter)
c.205A>T (p.Lys69Ter)
3g.122261829A>CCA354151368CASRc.794A>C (p.Lys265Thr)
c.311A>C (p.Lys104Thr)
c.206A>C (p.Lys69Thr)
3g.122261829A>GCA354151369CASRc.794A>G (p.Lys265Arg)
c.311A>G (p.Lys104Arg)
c.206A>G (p.Lys69Arg)
 ClinVar
3g.122261829A>TCA354151370CASRc.794A>T (p.Lys265Ile)
c.311A>T (p.Lys104Ile)
c.206A>T (p.Lys69Ile)
3g.122261830A>CCA354151371CASRc.795A>C (p.Lys265Asn)
c.312A>C (p.Lys104Asn)
c.207A>C (p.Lys69Asn)
3g.122261830A>GCA435424382CASRc.795A>G (p.Lys265=)
c.312A>G (p.Lys104=)
c.207A>G (p.Lys69=)
 ClinVar dbSNP
3g.122261830A>TCA354151372CASRc.795A>T (p.Lys265Asn)
c.312A>T (p.Lys104Asn)
c.207A>T (p.Lys69Asn)
3g.122261831G>ACA354151373CASRc.796G>A (p.Val266Ile)
c.313G>A (p.Val105Ile)
c.208G>A (p.Val70Ile)
 ClinVar dbSNP
3g.122261831G>CCA354151374CASRc.796G>C (p.Val266Leu)
c.313G>C (p.Val105Leu)
c.208G>C (p.Val70Leu)
3g.122261831G=CA1397873108CASRc.796G= (p.Val266=)
c.313G= (p.Val105=)
c.208G= (p.Val70=)
3g.122261831G>TCA354151375CASRc.796G>T (p.Val266Phe)
c.313G>T (p.Val105Phe)
c.208G>T (p.Val70Phe)
3g.122261832T>ACA354151376CASRc.797T>A (p.Val266Asp)
c.314T>A (p.Val105Asp)
c.209T>A (p.Val70Asp)
3g.122261832T>CCA354151377CASRc.797T>C (p.Val266Ala)
c.314T>C (p.Val105Ala)
c.209T>C (p.Val70Ala)
3g.122261832T>GCA354151378CASRc.797T>G (p.Val266Gly)
c.314T>G (p.Val105Gly)
c.209T>G (p.Val70Gly)
 ClinVar
3g.122261833C>ACA435424389CASRc.798C>A (p.Val266=)
c.315C>A (p.Val105=)
c.210C>A (p.Val70=)
3g.122261833C>GCA435424387CASRc.798C>G (p.Val266=)
c.315C>G (p.Val105=)
c.210C>G (p.Val70=)
3g.122261833C>TCA435424388CASRc.798C>T (p.Val266=)
c.315C>T (p.Val105=)
c.210C>T (p.Val70=)
 ClinVar gnomAD v4
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)

Number of alleles fetched