Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122262368A=CA1397873942CASRc.1333A= (p.Thr445=)
c.850A= (p.Thr284=)
c.745A= (p.Thr249=)
3g.122262368A>CCA354153170CASRc.1333A>C (p.Thr445Pro)
c.850A>C (p.Thr284Pro)
c.745A>C (p.Thr249Pro)
 ClinVar
3g.122262368A>GCA202248CASRc.1333A>G (p.Thr445Ala)
c.850A>G (p.Thr284Ala)
c.745A>G (p.Thr249Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262368A>TCA354153174CASRc.1333A>T (p.Thr445Ser)
c.850A>T (p.Thr284Ser)
c.745A>T (p.Thr249Ser)
3g.122262369C>ACA354153181CASRc.1334C>A (p.Thr445Asn)
c.851C>A (p.Thr284Asn)
c.746C>A (p.Thr249Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262369C=CA1397873944CASRc.1334C= (p.Thr445=)
c.851C= (p.Thr284=)
c.746C= (p.Thr249=)
3g.122262369C>GCA354153178CASRc.1334C>G (p.Thr445Ser)
c.851C>G (p.Thr284Ser)
c.746C>G (p.Thr249Ser)
 ClinVar
3g.122262369C>TCA354153177CASRc.1334C>T (p.Thr445Ile)
c.851C>T (p.Thr284Ile)
c.746C>T (p.Thr249Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262370C>ACA435425027CASRc.1335C>A (p.Thr445=)
c.852C>A (p.Thr284=)
c.747C>A (p.Thr249=)
 ClinVar
3g.122262370C>GCA435425029CASRc.1335C>G (p.Thr445=)
c.852C>G (p.Thr284=)
c.747C>G (p.Thr249=)
3g.122262370C>TCA435425031CASRc.1335C>T (p.Thr445=)
c.852C>T (p.Thr284=)
c.747C>T (p.Thr249=)
 ClinVar
3g.122262371A>CCA354153184CASRc.1336A>C (p.Asn446His)
c.853A>C (p.Asn285His)
c.748A>C (p.Asn250His)
3g.122262371A>GCA354153189CASRc.1336A>G (p.Asn446Asp)
c.853A>G (p.Asn285Asp)
c.748A>G (p.Asn250Asp)
3g.122262371A>TCA354153186CASRc.1336A>T (p.Asn446Tyr)
c.853A>T (p.Asn285Tyr)
c.748A>T (p.Asn250Tyr)
3g.122262372A=CA1397873946CASRc.1337A= (p.Asn446=)
c.854A= (p.Asn285=)
c.749A= (p.Asn250=)
3g.122262372A>CCA354153193CASRc.1337A>C (p.Asn446Thr)
c.854A>C (p.Asn285Thr)
c.749A>C (p.Asn250Thr)
3g.122262372A>GCA354153195CASRc.1337A>G (p.Asn446Ser)
c.854A>G (p.Asn285Ser)
c.749A>G (p.Asn250Ser)
 ClinVar dbSNP gnomAD v4
3g.122262372A>TCA354153197CASRc.1337A>T (p.Asn446Ile)
c.854A>T (p.Asn285Ile)
c.749A>T (p.Asn250Ile)
3g.122262373T>ACA354153200CASRc.1338T>A (p.Asn446Lys)
c.855T>A (p.Asn285Lys)
c.750T>A (p.Asn250Lys)
3g.122262373T>CCA2569623CASRc.1338T>C (p.Asn446=)
c.855T>C (p.Asn285=)
c.750T>C (p.Asn250=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262373T>GCA354153203CASRc.1338T>G (p.Asn446Lys)
c.855T>G (p.Asn285Lys)
c.750T>G (p.Asn250Lys)
3g.122262373T=CA1397873950CASRc.1338T= (p.Asn446=)
c.855T= (p.Asn285=)
c.750T= (p.Asn250=)
3g.122262374G>ACA354153211CASRc.1339G>A (p.Gly447Ser)
c.856G>A (p.Gly286Ser)
c.751G>A (p.Gly251Ser)
3g.122262374G>CCA354153209CASRc.1339G>C (p.Gly447Arg)
c.856G>C (p.Gly286Arg)
c.751G>C (p.Gly251Arg)
3g.122262374G>TCA354153207CASRc.1339G>T (p.Gly447Cys)
c.856G>T (p.Gly286Cys)
c.751G>T (p.Gly251Cys)
3g.122262375G>ACA2569624CASRc.1340G>A (p.Gly447Asp)
c.857G>A (p.Gly286Asp)
c.752G>A (p.Gly251Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262375G>CCA354153215CASRc.1340G>C (p.Gly447Ala)
c.857G>C (p.Gly286Ala)
c.752G>C (p.Gly251Ala)
3g.122262375G=CA1397873958CASRc.1340G= (p.Gly447=)
c.857G= (p.Gly286=)
c.752G= (p.Gly251=)
3g.122262375G>TCA354153217CASRc.1340G>T (p.Gly447Val)
c.857G>T (p.Gly286Val)
c.752G>T (p.Gly251Val)
 ClinVar
3g.122262376C>ACA435425041CASRc.1341C>A (p.Gly447=)
c.858C>A (p.Gly286=)
c.753C>A (p.Gly251=)
3g.122262376C=CA1397873963CASRc.1341C= (p.Gly447=)
c.858C= (p.Gly286=)
c.753C= (p.Gly251=)
3g.122262376C>GCA435425047CASRc.1341C>G (p.Gly447=)
c.858C>G (p.Gly286=)
c.753C>G (p.Gly251=)
3g.122262376C>TCA435425044CASRc.1341C>T (p.Gly447=)
c.858C>T (p.Gly286=)
c.753C>T (p.Gly251=)
 ClinVar dbSNP COSMIC
3g.122262377T>ACA354153220CASRc.1342T>A (p.Ser448Thr)
c.859T>A (p.Ser287Thr)
c.754T>A (p.Ser252Thr)
 ClinVar
3g.122262377T>CCA354153222CASRc.1342T>C (p.Ser448Pro)
c.859T>C (p.Ser287Pro)
c.754T>C (p.Ser252Pro)
3g.122262377T>GCA354153225CASRc.1342T>G (p.Ser448Ala)
c.859T>G (p.Ser287Ala)
c.754T>G (p.Ser252Ala)
3g.122262378C>ACA354153227CASRc.1343C>A (p.Ser448Tyr)
c.860C>A (p.Ser287Tyr)
c.755C>A (p.Ser252Tyr)
3g.122262378C>GCA354153232CASRc.1343C>G (p.Ser448Cys)
c.860C>G (p.Ser287Cys)
c.755C>G (p.Ser252Cys)
 ClinVar gnomAD v4
3g.122262378C>TCA354153230CASRc.1343C>T (p.Ser448Phe)
c.860C>T (p.Ser287Phe)
c.755C>T (p.Ser252Phe)
 gnomAD v4
3g.122262379C>ACA435425054CASRc.1344C>A (p.Ser448=)
c.861C>A (p.Ser287=)
c.756C>A (p.Ser252=)
3g.122262379C>GCA435425055CASRc.1344C>G (p.Ser448=)
c.861C>G (p.Ser287=)
c.756C>G (p.Ser252=)
3g.122262379C>TCA435425056CASRc.1344C>T (p.Ser448=)
c.861C>T (p.Ser287=)
c.756C>T (p.Ser252=)
 gnomAD v4 COSMIC
3g.122262380T>ACA354153234CASRc.1345T>A (p.Cys449Ser)
c.862T>A (p.Cys288Ser)
c.757T>A (p.Cys253Ser)
3g.122262380T>CCA354153237CASRc.1345T>C (p.Cys449Arg)
c.862T>C (p.Cys288Arg)
c.757T>C (p.Cys253Arg)
3g.122262380T>GCA354153239CASRc.1345T>G (p.Cys449Gly)
c.862T>G (p.Cys288Gly)
c.757T>G (p.Cys253Gly)
3g.122262381G>ACA354153242CASRc.1346G>A (p.Cys449Tyr)
c.863G>A (p.Cys288Tyr)
c.758G>A (p.Cys253Tyr)
3g.122262381G>CCA354153244CASRc.1346G>C (p.Cys449Ser)
c.863G>C (p.Cys288Ser)
c.758G>C (p.Cys253Ser)
3g.122262381G>TCA354153245CASRc.1346G>T (p.Cys449Phe)
c.863G>T (p.Cys288Phe)
c.758G>T (p.Cys253Phe)
3g.122262382T>ACA354153249CASRc.1347T>A (p.Cys449Ter)
c.864T>A (p.Cys288Ter)
c.759T>A (p.Cys253Ter)
3g.122262382T>CCA435425059CASRc.1347T>C (p.Cys449=)
c.864T>C (p.Cys288=)
c.759T>C (p.Cys253=)
3g.122262382T>GCA354153251CASRc.1347T>G (p.Cys449Trp)
c.864T>G (p.Cys288Trp)
c.759T>G (p.Cys253Trp)
3g.122262383G>ACA354153254CASRc.1348G>A (p.Ala450Thr)
c.865G>A (p.Ala289Thr)
c.760G>A (p.Ala254Thr)
 ClinVar
3g.122262383G>CCA354153255CASRc.1348G>C (p.Ala450Pro)
c.865G>C (p.Ala289Pro)
c.760G>C (p.Ala254Pro)
3g.122262383G>TCA354153257CASRc.1348G>T (p.Ala450Ser)
c.865G>T (p.Ala289Ser)
c.760G>T (p.Ala254Ser)
3g.122262384C>ACA354153261CASRc.1349C>A (p.Ala450Glu)
c.866C>A (p.Ala289Glu)
c.761C>A (p.Ala254Glu)
3g.122262384C=CA1397873970CASRc.1349C= (p.Ala450=)
c.866C= (p.Ala289=)
c.761C= (p.Ala254=)
3g.122262384C>GCA354153265CASRc.1349C>G (p.Ala450Gly)
c.866C>G (p.Ala289Gly)
c.761C>G (p.Ala254Gly)
 gnomAD v4
3g.122262384C>TCA354153263CASRc.1349C>T (p.Ala450Val)
c.866C>T (p.Ala289Val)
c.761C>T (p.Ala254Val)
 dbSNP gnomAD v2
3g.122262385A>CCA435425064CASRc.1350A>C (p.Ala450=)
c.867A>C (p.Ala289=)
c.762A>C (p.Ala254=)
3g.122262385A>GCA435425066CASRc.1350A>G (p.Ala450=)
c.867A>G (p.Ala289=)
c.762A>G (p.Ala254=)
3g.122262385A>TCA435425068CASRc.1350A>T (p.Ala450=)
c.867A>T (p.Ala289=)
c.762A>T (p.Ala254=)
3g.122262386G>ACA2569625CASRc.1351G>A (p.Asp451Asn)
c.868G>A (p.Asp290Asn)
c.763G>A (p.Asp255Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262386G>CCA354153268CASRc.1351G>C (p.Asp451His)
c.868G>C (p.Asp290His)
c.763G>C (p.Asp255His)
3g.122262386G=CA1397873975CASRc.1351G= (p.Asp451=)
c.868G= (p.Asp290=)
c.763G= (p.Asp255=)
3g.122262386G>TCA354153270CASRc.1351G>T (p.Asp451Tyr)
c.868G>T (p.Asp290Tyr)
c.763G>T (p.Asp255Tyr)
 ClinVar dbSNP
3g.122262387A>CCA354153274CASRc.1352A>C (p.Asp451Ala)
c.869A>C (p.Asp290Ala)
c.764A>C (p.Asp255Ala)
3g.122262387A>GCA354153276CASRc.1352A>G (p.Asp451Gly)
c.869A>G (p.Asp290Gly)
c.764A>G (p.Asp255Gly)
3g.122262387A>TCA354153278CASRc.1352A>T (p.Asp451Val)
c.869A>T (p.Asp290Val)
c.764A>T (p.Asp255Val)
 gnomAD v4
3g.122262388C>ACA354153281CASRc.1353C>A (p.Asp451Glu)
c.870C>A (p.Asp290Glu)
c.765C>A (p.Asp255Glu)
3g.122262388C=CA1397873977CASRc.1353C= (p.Asp451=)
c.870C= (p.Asp290=)
c.765C= (p.Asp255=)
3g.122262388C>GCA354153283CASRc.1353C>G (p.Asp451Glu)
c.870C>G (p.Asp290Glu)
c.765C>G (p.Asp255Glu)
3g.122262388C>TCA435425073CASRc.1353C>T (p.Asp451=)
c.870C>T (p.Asp290=)
c.765C>T (p.Asp255=)
 ClinVar dbSNP
3g.122262389A=CA1397873980CASRc.1354A= (p.Ile452=)
c.871A= (p.Ile291=)
c.766A= (p.Ile256=)
3g.122262389A>CCA354153285CASRc.1354A>C (p.Ile452Leu)
c.871A>C (p.Ile291Leu)
c.766A>C (p.Ile256Leu)
3g.122262389A>GCA2569626CASRc.1354A>G (p.Ile452Val)
c.871A>G (p.Ile291Val)
c.766A>G (p.Ile256Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262389A>TCA354153289CASRc.1354A>T (p.Ile452Phe)
c.871A>T (p.Ile291Phe)
c.766A>T (p.Ile256Phe)
 ClinVar
3g.122262390T>ACA354153297CASRc.1355T>A (p.Ile452Asn)
c.872T>A (p.Ile291Asn)
c.767T>A (p.Ile256Asn)
 ClinVar
3g.122262390T>CCA354153294CASRc.1355T>C (p.Ile452Thr)
c.872T>C (p.Ile291Thr)
c.767T>C (p.Ile256Thr)
3g.122262390T>GCA354153292CASRc.1355T>G (p.Ile452Ser)
c.872T>G (p.Ile291Ser)
c.767T>G (p.Ile256Ser)
3g.122262391C>ACA435425081CASRc.1356C>A (p.Ile452=)
c.873C>A (p.Ile291=)
c.768C>A (p.Ile256=)
 dbSNP
3g.122262391C=CA1397873984CASRc.1356C= (p.Ile452=)
c.873C= (p.Ile291=)
c.768C= (p.Ile256=)
3g.122262391C>GCA354153299CASRc.1356C>G (p.Ile452Met)
c.873C>G (p.Ile291Met)
c.768C>G (p.Ile256Met)
3g.122262391C>TCA435425084CASRc.1356C>T (p.Ile452=)
c.873C>T (p.Ile291=)
c.768C>T (p.Ile256=)
3g.122262392A>CCA354153302CASRc.1357A>C (p.Lys453Gln)
c.874A>C (p.Lys292Gln)
c.769A>C (p.Lys257Gln)
3g.122262392A>GCA354153305CASRc.1357A>G (p.Lys453Glu)
c.874A>G (p.Lys292Glu)
c.769A>G (p.Lys257Glu)
3g.122262392A>TCA354153308CASRc.1357A>T (p.Lys453Ter)
c.874A>T (p.Lys292Ter)
c.769A>T (p.Lys257Ter)
3g.122262393A>CCA354153310CASRc.1358A>C (p.Lys453Thr)
c.875A>C (p.Lys292Thr)
c.770A>C (p.Lys257Thr)
3g.122262393A>GCA354153314CASRc.1358A>G (p.Lys453Arg)
c.875A>G (p.Lys292Arg)
c.770A>G (p.Lys257Arg)
3g.122262393A>TCA354153317CASRc.1358A>T (p.Lys453Met)
c.875A>T (p.Lys292Met)
c.770A>T (p.Lys257Met)
3g.122262394G>ACA435425091CASRc.1359G>A (p.Lys453=)
c.876G>A (p.Lys292=)
c.771G>A (p.Lys257=)
3g.122262394G>CCA354153319CASRc.1359G>C (p.Lys453Asn)
c.876G>C (p.Lys292Asn)
c.771G>C (p.Lys257Asn)
3g.122262394G>TCA354153321CASRc.1359G>T (p.Lys453Asn)
c.876G>T (p.Lys292Asn)
c.771G>T (p.Lys257Asn)
 gnomAD v4
3g.122262395A=CA1397873987CASRc.1360A= (p.Lys454=)
c.877A= (p.Lys293=)
c.772A= (p.Lys258=)
3g.122262395A>CCA354153324CASRc.1360A>C (p.Lys454Gln)
c.877A>C (p.Lys293Gln)
c.772A>C (p.Lys258Gln)
3g.122262395A>GCA82739149CASRc.1360A>G (p.Lys454Glu)
c.877A>G (p.Lys293Glu)
c.772A>G (p.Lys258Glu)
 ClinVar dbSNP gnomAD v4
3g.122262395A>TCA354153328CASRc.1360A>T (p.Lys454Ter)
c.877A>T (p.Lys293Ter)
c.772A>T (p.Lys258Ter)
3g.122262396A>CCA354153337CASRc.1361A>C (p.Lys454Thr)
c.878A>C (p.Lys293Thr)
c.773A>C (p.Lys258Thr)
3g.122262396A>GCA354153335CASRc.1361A>G (p.Lys454Arg)
c.878A>G (p.Lys293Arg)
c.773A>G (p.Lys258Arg)
 gnomAD v4
3g.122262396A>TCA354153333CASRc.1361A>T (p.Lys454Ile)
c.878A>T (p.Lys293Ile)
c.773A>T (p.Lys258Ile)
 gnomAD v4
3g.122262397A>CCA354153341CASRc.1362A>C (p.Lys454Asn)
c.879A>C (p.Lys293Asn)
c.774A>C (p.Lys258Asn)
3g.122262397A>GCA435425103CASRc.1362A>G (p.Lys454=)
c.879A>G (p.Lys293=)
c.774A>G (p.Lys258=)
3g.122262397A>TCA354153343CASRc.1362A>T (p.Lys454Asn)
c.879A>T (p.Lys293Asn)
c.774A>T (p.Lys258Asn)
3g.122262398G>ACA354153346CASRc.1363G>A (p.Val455Ile)
c.880G>A (p.Val294Ile)
c.775G>A (p.Val259Ile)
3g.122262398G>CCA354153348CASRc.1363G>C (p.Val455Leu)
c.880G>C (p.Val294Leu)
c.775G>C (p.Val259Leu)
 ClinVar dbSNP
3g.122262398G>TCA354153350CASRc.1363G>T (p.Val455Phe)
c.880G>T (p.Val294Phe)
c.775G>T (p.Val259Phe)
 gnomAD v4
3g.122262399T>ACA354153353CASRc.1364T>A (p.Val455Asp)
c.881T>A (p.Val294Asp)
c.776T>A (p.Val259Asp)
3g.122262399T>CCA354153365CASRc.1364T>C (p.Val455Ala)
c.881T>C (p.Val294Ala)
c.776T>C (p.Val259Ala)
 ClinVar dbSNP gnomAD v4
3g.122262399T>GCA354153366CASRc.1364T>G (p.Val455Gly)
c.881T>G (p.Val294Gly)
c.776T>G (p.Val259Gly)
3g.122262400T>ACA435425116CASRc.1365T>A (p.Val455=)
c.882T>A (p.Val294=)
c.777T>A (p.Val259=)
3g.122262400T>CCA435425118CASRc.1365T>C (p.Val455=)
c.882T>C (p.Val294=)
c.777T>C (p.Val259=)
3g.122262400T>GCA435425121CASRc.1365T>G (p.Val455=)
c.882T>G (p.Val294=)
c.777T>G (p.Val259=)
3g.122262401G>ACA354153373CASRc.1366G>A (p.Glu456Lys)
c.883G>A (p.Glu295Lys)
c.778G>A (p.Glu260Lys)
 COSMIC
3g.122262401G>CCA354153369CASRc.1366G>C (p.Glu456Gln)
c.883G>C (p.Glu295Gln)
c.778G>C (p.Glu260Gln)
3g.122262401G>TCA354153371CASRc.1366G>T (p.Glu456Ter)
c.883G>T (p.Glu295Ter)
c.778G>T (p.Glu260Ter)
3g.122262402A=CA1397873990CASRc.1367A= (p.Glu456=)
c.884A= (p.Glu295=)
c.779A= (p.Glu260=)
3g.122262402A>CCA354153376CASRc.1367A>C (p.Glu456Ala)
c.884A>C (p.Glu295Ala)
c.779A>C (p.Glu260Ala)
3g.122262402A>GCA354153378CASRc.1367A>G (p.Glu456Gly)
c.884A>G (p.Glu295Gly)
c.779A>G (p.Glu260Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262402A>TCA354153380CASRc.1367A>T (p.Glu456Val)
c.884A>T (p.Glu295Val)
c.779A>T (p.Glu260Val)
3g.122262402_122262403delinsAGCA1397873991CASRc.1367_1368delinsAG (p.Glu456=)
c.884_885delinsAG (p.Glu295=)
c.779_780delinsAG (p.Glu260=)
3g.122262403G>ACA435425130CASRc.1368G>A (p.Glu456=)
c.885G>A (p.Glu295=)
c.780G>A (p.Glu260=)
3g.122262403G>CCA354153382CASRc.1368G>C (p.Glu456Asp)
c.885G>C (p.Glu295Asp)
c.780G>C (p.Glu260Asp)
3g.122262403G>TCA354153383CASRc.1368G>T (p.Glu456Asp)
c.885G>T (p.Glu295Asp)
c.780G>T (p.Glu260Asp)
3g.122262404delCA1397873993CASRc.1369del (p.Ala457ArgfsTer?)
c.1369del (p.Ala457ArgfsTer5)
c.886del (p.Ala296ArgfsTer5)
c.781del (p.Ala261ArgfsTer5)
 dbSNP
3g.122262404G>ACA354153385CASRc.1369G>A (p.Ala457Thr)
c.886G>A (p.Ala296Thr)
c.781G>A (p.Ala261Thr)
3g.122262404G>CCA354153391CASRc.1369G>C (p.Ala457Pro)
c.886G>C (p.Ala296Pro)
c.781G>C (p.Ala261Pro)
3g.122262404G>TCA354153388CASRc.1369G>T (p.Ala457Ser)
c.886G>T (p.Ala296Ser)
c.781G>T (p.Ala261Ser)
3g.122262405C>ACA354153393CASRc.1370C>A (p.Ala457Glu)
c.887C>A (p.Ala296Glu)
c.782C>A (p.Ala261Glu)
 gnomAD v4
3g.122262405C=CA1397873997CASRc.1370C= (p.Ala457=)
c.887C= (p.Ala296=)
c.782C= (p.Ala261=)
3g.122262405C>GCA354153395CASRc.1370C>G (p.Ala457Gly)
c.887C>G (p.Ala296Gly)
c.782C>G (p.Ala261Gly)
3g.122262405C>TCA354153398CASRc.1370C>T (p.Ala457Val)
c.887C>T (p.Ala296Val)
c.782C>T (p.Ala261Val)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262406G>ACA2569627CASRc.1371G>A (p.Ala457=)
c.888G>A (p.Ala296=)
c.783G>A (p.Ala261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262406G>CCA435251119CASRc.1371G>C (p.Ala457=)
c.888G>C (p.Ala296=)
c.783G>C (p.Ala261=)
3g.122262406G=CA1397874000CASRc.1371G= (p.Ala457=)
c.888G= (p.Ala296=)
c.783G= (p.Ala261=)
3g.122262406G>TCA435251120CASRc.1371G>T (p.Ala457=)
c.888G>T (p.Ala296=)
c.783G>T (p.Ala261=)
3g.122262407T>ACA354153402CASRc.1372T>A (p.Trp458Arg)
c.889T>A (p.Trp297Arg)
c.784T>A (p.Trp262Arg)
3g.122262407T>CCA354153404CASRc.1372T>C (p.Trp458Arg)
c.889T>C (p.Trp297Arg)
c.784T>C (p.Trp262Arg)
3g.122262407T>GCA354153405CASRc.1372T>G (p.Trp458Gly)
c.889T>G (p.Trp297Gly)
c.784T>G (p.Trp262Gly)
3g.122262408G>ACA354153407CASRc.1373G>A (p.Trp458Ter)
c.890G>A (p.Trp297Ter)
c.785G>A (p.Trp262Ter)
3g.122262408G>CCA354153409CASRc.1373G>C (p.Trp458Ser)
c.890G>C (p.Trp297Ser)
c.785G>C (p.Trp262Ser)
3g.122262408G>TCA354153411CASRc.1373G>T (p.Trp458Leu)
c.890G>T (p.Trp297Leu)
c.785G>T (p.Trp262Leu)
 gnomAD v4
3g.122262409G>ACA354153418CASRc.1374G>A (p.Trp458Ter)
c.891G>A (p.Trp297Ter)
c.786G>A (p.Trp262Ter)
3g.122262409G>CCA354153416CASRc.1374G>C (p.Trp458Cys)
c.891G>C (p.Trp297Cys)
c.786G>C (p.Trp262Cys)
3g.122262409G>TCA354153414CASRc.1374G>T (p.Trp458Cys)
c.891G>T (p.Trp297Cys)
c.786G>T (p.Trp262Cys)
 gnomAD v4
3g.122262410C>ACA354153420CASRc.1375C>A (p.Gln459Lys)
c.892C>A (p.Gln298Lys)
c.787C>A (p.Gln263Lys)
 ClinVar dbSNP
3g.122262410C=CA1397874002CASRc.1375C= (p.Gln459=)
c.892C= (p.Gln298=)
c.787C= (p.Gln263=)
3g.122262410C>GCA354153423CASRc.1375C>G (p.Gln459Glu)
c.892C>G (p.Gln298Glu)
c.787C>G (p.Gln263Glu)
3g.122262410C>TCA354153424CASRc.1375C>T (p.Gln459Ter)
c.892C>T (p.Gln298Ter)
c.787C>T (p.Gln263Ter)
3g.122262411A>CCA354153428CASRc.1376A>C (p.Gln459Pro)
c.893A>C (p.Gln298Pro)
c.788A>C (p.Gln263Pro)
3g.122262411A>GCA354153430CASRc.1376A>G (p.Gln459Arg)
c.893A>G (p.Gln298Arg)
c.788A>G (p.Gln263Arg)
 ClinVar dbSNP gnomAD v4
3g.122262411A>TCA354153432CASRc.1376A>T (p.Gln459Leu)
c.893A>T (p.Gln298Leu)
c.788A>T (p.Gln263Leu)
3g.122262412G>ACA2569628CASRc.1377G>A (p.Gln459=)
c.894G>A (p.Gln298=)
c.789G>A (p.Gln263=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262412G>CCA354153435CASRc.1377G>C (p.Gln459His)
c.894G>C (p.Gln298His)
c.789G>C (p.Gln263His)
3g.122262412G=CA1397874003CASRc.1377G= (p.Gln459=)
c.894G= (p.Gln298=)
c.789G= (p.Gln263=)
3g.122262412G>TCA354153437CASRc.1377G>T (p.Gln459His)
c.894G>T (p.Gln298His)
c.789G>T (p.Gln263His)
 ClinVar
3g.122262413G>ACA354153441CASRc.1377+1G>A (n.1377+1G>A)
c.894+1G>A (n.894+1G>A)
c.789+1G>A (n.789+1G>A)
 ClinVar
3g.122262413G>CCA354153442CASRc.1377+1G>C (n.1377+1G>C)
c.894+1G>C (n.894+1G>C)
c.789+1G>C (n.789+1G>C)
3g.122262413G=CA1397874007CASRc.1377+1G= (n.1377+1G=)
c.894+1G= (n.894+1G=)
c.789+1G= (n.789+1G=)
3g.122262413G>TCA354153444CASRc.1377+1G>T (n.1377+1G>T)
c.894+1G>T (n.894+1G>T)
c.789+1G>T (n.789+1G>T)
 ClinVar dbSNP
3g.122262414T>ACA354153451CASRc.1377+2T>A (n.1377+2T>A)
c.894+2T>A (n.894+2T>A)
c.789+2T>A (n.789+2T>A)
 ClinVar dbSNP
3g.122262414T>CCA354153448CASRc.1377+2T>C (n.1377+2T>C)
c.894+2T>C (n.894+2T>C)
c.789+2T>C (n.789+2T>C)
3g.122262414T>GCA2569629CASRc.1377+2T>G (n.1377+2T>G)
c.894+2T>G (n.894+2T>G)
c.789+2T>G (n.789+2T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262414T=CA1397874009CASRc.1377+2T= (n.1377+2T=)
c.894+2T= (n.894+2T=)
c.789+2T= (n.789+2T=)
3g.122262415G>ACA82739153CASRc.1377+3G>A (n.1377+3G>A)
c.894+3G>A (n.894+3G>A)
c.789+3G>A (n.789+3G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262415G=CA1397874015CASRc.1377+3G= (n.1377+3G=)
c.894+3G= (n.894+3G=)
c.789+3G= (n.789+3G=)
3g.122262416C>ACA2667225198CASRc.1377+4C>A (n.1377+4C>A)
c.894+4C>A (n.894+4C>A)
c.789+4C>A (n.789+4C>A)
 gnomAD v4
3g.122262416C=CA1397874017CASRc.1377+4C= (n.1377+4C=)
c.894+4C= (n.894+4C=)
c.789+4C= (n.789+4C=)
3g.122262416C>GCA545644631CASRc.1377+4C>G (n.1377+4C>G)
c.894+4C>G (n.894+4C>G)
c.789+4C>G (n.789+4C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262416C>TCA2573136462CASRc.1377+4C>T (n.1377+4C>T)
c.894+4C>T (n.894+4C>T)
c.789+4C>T (n.789+4C>T)
 ClinVar dbSNP gnomAD v4
3g.122262417G>ACA2577870024CASRc.1377+5G>A (n.1377+5G>A)
c.894+5G>A (n.894+5G>A)
c.789+5G>A (n.789+5G>A)
 dbSNP gnomAD v4
3g.122262417G=CA1397874021CASRc.1377+5G= (n.1377+5G=)
c.894+5G= (n.894+5G=)
c.789+5G= (n.789+5G=)
3g.122262417G>TCA1052938175CASRc.1377+5G>T (n.1377+5G>T)
c.894+5G>T (n.894+5G>T)
c.789+5G>T (n.789+5G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262418T>ACA2703657976CASRc.1377+6T>A (n.1377+6T>A)
c.894+6T>A (n.894+6T>A)
c.789+6T>A (n.789+6T>A)
 dbSNP
3g.122262418T>CCA545644633CASRc.1377+6T>C (n.1377+6T>C)
c.894+6T>C (n.894+6T>C)
c.789+6T>C (n.789+6T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262418T>GCA1397874025CASRc.1377+6T>G (n.1377+6T>G)
c.894+6T>G (n.894+6T>G)
c.789+6T>G (n.789+6T>G)
 dbSNP
3g.122262418T=CA1397874023CASRc.1377+6T= (n.1377+6T=)
c.894+6T= (n.894+6T=)
c.789+6T= (n.789+6T=)
3g.122262419C>ACA1397874028CASRc.1377+7C>A (n.1377+7C>A)
c.894+7C>A (n.894+7C>A)
c.789+7C>A (n.789+7C>A)
 dbSNP
3g.122262419C=CA1397874027CASRc.1377+7C= (n.1377+7C=)
c.894+7C= (n.894+7C=)
c.789+7C= (n.789+7C=)
3g.122262419C>TCA2667225207CASRc.1377+7C>T (n.1377+7C>T)
c.894+7C>T (n.894+7C>T)
c.789+7C>T (n.789+7C>T)
 gnomAD v4
3g.122262420C=CA1397874030CASRc.1377+8C= (n.1377+8C=)
c.894+8C= (n.894+8C=)
c.789+8C= (n.789+8C=)
3g.122262420C>TCA2569630CASRc.1377+8C>T (n.1377+8C>T)
c.894+8C>T (n.894+8C>T)
c.789+8C>T (n.789+8C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262421T>CCA545644635CASRc.1377+9T>C (n.1377+9T>C)
c.894+9T>C (n.894+9T>C)
c.789+9T>C (n.789+9T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.122262421T=CA1397874034CASRc.1377+9T= (n.1377+9T=)
c.894+9T= (n.894+9T=)
c.789+9T= (n.789+9T=)
3g.122262423C>ACA2667225212CASRc.1377+11C>A (n.1377+11C>A)
c.894+11C>A (n.894+11C>A)
c.789+11C>A (n.789+11C>A)
 gnomAD v4
3g.122262423C=CA1397874035CASRc.1377+11C= (n.1377+11C=)
c.894+11C= (n.894+11C=)
c.789+11C= (n.789+11C=)
3g.122262423C>TCA1397874036CASRc.1377+11C>T (n.1377+11C>T)
c.894+11C>T (n.894+11C>T)
c.789+11C>T (n.789+11C>T)
 dbSNP
3g.122262425C>TCA2580068646CASRc.1377+13C>T (n.1377+13C>T)
c.894+13C>T (n.894+13C>T)
c.789+13C>T (n.789+13C>T)
 ClinVar
3g.122262426T>ACA2577870025CASRc.1377+14T>A (n.1377+14T>A)
c.894+14T>A (n.894+14T>A)
c.789+14T>A (n.789+14T>A)
 gnomAD v4
3g.122262426T>CCA545644636CASRc.1377+14T>C (n.1377+14T>C)
c.894+14T>C (n.894+14T>C)
c.789+14T>C (n.789+14T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262426T>GCA2577870026CASRc.1377+14T>G (n.1377+14T>G)
c.894+14T>G (n.894+14T>G)
c.789+14T>G (n.789+14T>G)
 ClinVar
3g.122262426T=CA1397874038CASRc.1377+14T= (n.1377+14T=)
c.894+14T= (n.894+14T=)
c.789+14T= (n.789+14T=)
3g.122262427T>GCA545644637CASRc.1377+15T>G (n.1377+15T>G)
c.894+15T>G (n.894+15T>G)
c.789+15T>G (n.789+15T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262427T=CA1397874040CASRc.1377+15T= (n.1377+15T=)
c.894+15T= (n.894+15T=)
c.789+15T= (n.789+15T=)
3g.122262428delCA2667225221CASRc.1377+16del (n.1377+16del)
c.894+16del (n.894+16del)
c.789+16del (n.789+16del)
 gnomAD v4
3g.122262428A=CA1397874042CASRc.1377+16A= (n.1377+16A=)
c.894+16A= (n.894+16A=)
c.789+16A= (n.789+16A=)
3g.122262428A>GCA2667225222CASRc.1377+16A>G (n.1377+16A>G)
c.894+16A>G (n.894+16A>G)
c.789+16A>G (n.789+16A>G)
 gnomAD v4
3g.122262428A>TCA1397874044CASRc.1377+16A>T (n.1377+16A>T)
c.894+16A>T (n.894+16A>T)
c.789+16A>T (n.789+16A>T)
 dbSNP
3g.122262429T>CCA2569631CASRc.1377+17T>C (n.1377+17T>C)
c.894+17T>C (n.894+17T>C)
c.789+17T>C (n.789+17T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262429T=CA1397874048CASRc.1377+17T= (n.1377+17T=)
c.894+17T= (n.894+17T=)
c.789+17T= (n.789+17T=)
3g.122262430A=CA1397874052CASRc.1377+18A= (n.1377+18A=)
c.894+18A= (n.894+18A=)
c.789+18A= (n.789+18A=)
3g.122262430A>GCA2569632CASRc.1377+18A>G (n.1377+18A>G)
c.894+18A>G (n.894+18A>G)
c.789+18A>G (n.789+18A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262430A>TCA2667225223CASRc.1377+18A>T (n.1377+18A>T)
c.894+18A>T (n.894+18A>T)
c.789+18A>T (n.789+18A>T)
 gnomAD v4
3g.122262431T>CCA1397874055CASRc.1377+19T>C (n.1377+19T>C)
c.894+19T>C (n.894+19T>C)
c.789+19T>C (n.789+19T>C)
 ClinVar dbSNP gnomAD v4
3g.122262431T>GCA2703743462CASRc.1377+19T>G (n.1377+19T>G)
c.894+19T>G (n.894+19T>G)
c.789+19T>G (n.789+19T>G)
 dbSNP
3g.122262431T=CA1397874054CASRc.1377+19T= (n.1377+19T=)
c.894+19T= (n.894+19T=)
c.789+19T= (n.789+19T=)
3g.122262432A=CA1397874058CASRc.1377+20A= (n.1377+20A=)
c.894+20A= (n.894+20A=)
c.789+20A= (n.789+20A=)
3g.122262432A>CCA2740094569CASRc.1377+20A>C (n.1377+20A>C)
c.894+20A>C (n.894+20A>C)
c.789+20A>C (n.789+20A>C)
 ClinVar
3g.122262432A>TCA1397874057CASRc.1377+20A>T (n.1377+20A>T)
c.894+20A>T (n.894+20A>T)
c.789+20A>T (n.789+20A>T)
 dbSNP
3g.122262433G>ACA2667225224CASRc.1377+21G>A (n.1377+21G>A)
c.894+21G>A (n.894+21G>A)
c.789+21G>A (n.789+21G>A)
 gnomAD v4
3g.122262434C>TCA2577870027CASRc.1377+22C>T (n.1377+22C>T)
c.894+22C>T (n.894+22C>T)
c.789+22C>T (n.789+22C>T)
 gnomAD v4
3g.122262436A=CA1397874060CASRc.1377+24A= (n.1377+24A=)
c.894+24A= (n.894+24A=)
c.789+24A= (n.789+24A=)
3g.122262436A>TCA2569633CASRc.1377+24A>T (n.1377+24A>T)
c.894+24A>T (n.894+24A>T)
c.789+24A>T (n.789+24A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262437T>ACA2577870028CASRc.1377+25T>A (n.1377+25T>A)
c.894+25T>A (n.894+25T>A)
c.789+25T>A (n.789+25T>A)
 gnomAD v4
3g.122262440G>ACA2667225229CASRc.1377+28G>A (n.1377+28G>A)
c.894+28G>A (n.894+28G>A)
c.789+28G>A (n.789+28G>A)
 gnomAD v4
3g.122262440G>TCA2667225227CASRc.1377+28G>T (n.1377+28G>T)
c.894+28G>T (n.894+28G>T)
c.789+28G>T (n.789+28G>T)
 gnomAD v4
3g.122262441C>ACA2667225230CASRc.1377+29C>A (n.1377+29C>A)
c.894+29C>A (n.894+29C>A)
c.789+29C>A (n.789+29C>A)
 gnomAD v4
3g.122262443G>ACA545644642CASRc.1377+31G>A (n.1377+31G>A)
c.894+31G>A (n.894+31G>A)
c.789+31G>A (n.789+31G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.122262443G>CCA2667225236CASRc.1377+31G>C (n.1377+31G>C)
c.894+31G>C (n.894+31G>C)
c.789+31G>C (n.789+31G>C)
 gnomAD v4
3g.122262443G=CA1397874062CASRc.1377+31G= (n.1377+31G=)
c.894+31G= (n.894+31G=)
c.789+31G= (n.789+31G=)
3g.122262443G>TCA2667225241CASRc.1377+31G>T (n.1377+31G>T)
c.894+31G>T (n.894+31G>T)
c.789+31G>T (n.789+31G>T)
 gnomAD v4
3g.122262444T>CCA2569634CASRc.1377+32T>C (n.1377+32T>C)
c.894+32T>C (n.894+32T>C)
c.789+32T>C (n.789+32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262444T=CA1397874065CASRc.1377+32T= (n.1377+32T=)
c.894+32T= (n.894+32T=)
c.789+32T= (n.789+32T=)
3g.122262445A=CA1397874068CASRc.1377+33A= (n.1377+33A=)
c.894+33A= (n.894+33A=)
c.789+33A= (n.789+33A=)
3g.122262445A>GCA2667225245CASRc.1377+33A>G (n.1377+33A>G)
c.894+33A>G (n.894+33A>G)
c.789+33A>G (n.789+33A>G)
 gnomAD v4
3g.122262445A>TCA1052938187CASRc.1377+33A>T (n.1377+33A>T)
c.894+33A>T (n.894+33A>T)
c.789+33A>T (n.789+33A>T)
 dbSNP gnomAD v3 gnomAD v4
3g.122262448A=CA1397874070CASRc.1377+36A= (n.1377+36A=)
c.894+36A= (n.894+36A=)
c.789+36A= (n.789+36A=)
3g.122262448A>GCA2569635CASRc.1377+36A>G (n.1377+36A>G)
c.894+36A>G (n.894+36A>G)
c.789+36A>G (n.789+36A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262448_122262449insGCA2667225249CASRc.1377+36_1377+37insG (n.1377+36_1377+37insG)
c.894+36_894+37insG (n.894+36_894+37insG)
c.789+36_789+37insG (n.789+36_789+37insG)
 gnomAD v4
3g.122262449T>CCA1397874073CASRc.1377+37T>C (n.1377+37T>C)
c.894+37T>C (n.894+37T>C)
c.789+37T>C (n.789+37T>C)
 dbSNP gnomAD v4
3g.122262449T>GCA2577870029CASRc.1377+37T>G (n.1377+37T>G)
c.894+37T>G (n.894+37T>G)
c.789+37T>G (n.789+37T>G)
3g.122262449T=CA1397874072CASRc.1377+37T= (n.1377+37T=)
c.894+37T= (n.894+37T=)
c.789+37T= (n.789+37T=)
3g.122262453G>ACA2569636CASRc.1377+41G>A (n.1377+41G>A)
c.894+41G>A (n.894+41G>A)
c.789+41G>A (n.789+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262453G=CA1397874076CASRc.1377+41G= (n.1377+41G=)
c.894+41G= (n.894+41G=)
c.789+41G= (n.789+41G=)
3g.122262454C>ACA2667225251CASRc.1377+42C>A (n.1377+42C>A)
c.894+42C>A (n.894+42C>A)
c.789+42C>A (n.789+42C>A)
 gnomAD v4
3g.122262454C=CA1397874077CASRc.1377+42C= (n.1377+42C=)
c.894+42C= (n.894+42C=)
c.789+42C= (n.789+42C=)
3g.122262454C>TCA1397874078CASRc.1377+42C>T (n.1377+42C>T)
c.894+42C>T (n.894+42C>T)
c.789+42C>T (n.789+42C>T)
 dbSNP gnomAD v4
3g.122262456G>ACA2758181342CASRc.1377+44G>A (n.1377+44G>A)
c.894+44G>A (n.894+44G>A)
c.789+44G>A (n.789+44G>A)
3g.122262458G>ACA1397874081CASRc.1377+46G>A (n.1377+46G>A)
c.894+46G>A (n.894+46G>A)
c.789+46G>A (n.789+46G>A)
 dbSNP gnomAD v4
3g.122262458G=CA1397874080CASRc.1377+46G= (n.1377+46G=)
c.894+46G= (n.894+46G=)
c.789+46G= (n.789+46G=)
3g.122262459T>CCA2569638CASRc.1377+47T>C (n.1377+47T>C)
c.894+47T>C (n.894+47T>C)
c.789+47T>C (n.789+47T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262459T>GCA2569637CASRc.1377+47T>G (n.1377+47T>G)
c.894+47T>G (n.894+47T>G)
c.789+47T>G (n.789+47T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262459T=CA1397874086CASRc.1377+47T= (n.1377+47T=)
c.894+47T= (n.894+47T=)
c.789+47T= (n.789+47T=)
3g.122262460T>GCA2667225256CASRc.1377+48T>G (n.1377+48T>G)
c.894+48T>G (n.894+48T>G)
c.789+48T>G (n.789+48T>G)
 gnomAD v4
3g.122262461G>CCA2577870030CASRc.1377+49G>C (n.1377+49G>C)
c.894+49G>C (n.894+49G>C)
c.789+49G>C (n.789+49G>C)
3g.122262461G>TCA2667225260CASRc.1377+49G>T (n.1377+49G>T)
c.894+49G>T (n.894+49G>T)
c.789+49G>T (n.789+49G>T)
 gnomAD v4
3g.122262461_122262462insCAGCCCAACTCTCA2667225261CASRc.1377+49_1377+50insCAGCCCAACTCT (n.1377+49_1377+50insCAGCCCAACTCT)
c.894+49_894+50insCAGCCCAACTCT (n.894+49_894+50insCAGCCCAACTCT)
c.789+49_789+50insCAGCCCAACTCT (n.789+49_789+50insCAGCCCAACTCT)
 gnomAD v4
3g.122262462G>CCA2667225262CASRc.1377+50G>C (n.1377+50G>C)
c.894+50G>C (n.894+50G>C)
c.789+50G>C (n.789+50G>C)
 gnomAD v4
3g.122262463G>ACA82739200CASRc.1377+51G>A (n.1377+51G>A)
c.894+51G>A (n.894+51G>A)
c.789+51G>A (n.789+51G>A)
 dbSNP gnomAD v4
3g.122262463G=CA1397874089CASRc.1377+51G= (n.1377+51G=)
c.894+51G= (n.894+51G=)
c.789+51G= (n.789+51G=)
3g.122262463G>TCA2667225265CASRc.1377+51G>T (n.1377+51G>T)
c.894+51G>T (n.894+51G>T)
c.789+51G>T (n.789+51G>T)
 gnomAD v4
3g.122262464C>ACA2577870031CASRc.1377+52C>A (n.1377+52C>A)
c.894+52C>A (n.894+52C>A)
c.789+52C>A (n.789+52C>A)
 gnomAD v4
3g.122262464C>TCA2667225266CASRc.1377+52C>T (n.1377+52C>T)
c.894+52C>T (n.894+52C>T)
c.789+52C>T (n.789+52C>T)
 gnomAD v4
3g.122262465T>GCA2667225268CASRc.1377+53T>G (n.1377+53T>G)
c.894+53T>G (n.894+53T>G)
c.789+53T>G (n.789+53T>G)
 gnomAD v4
3g.122262466G>ACA2667225269CASRc.1377+54G>A (n.1377+54G>A)
c.894+54G>A (n.894+54G>A)
c.789+54G>A (n.789+54G>A)
 gnomAD v4
3g.122262466G>TCA2667225270CASRc.1377+54G>T (n.1377+54G>T)
c.894+54G>T (n.894+54G>T)
c.789+54G>T (n.789+54G>T)
 gnomAD v4
3g.122262467C>ACA2667225271CASRc.1377+55C>A (n.1377+55C>A)
c.894+55C>A (n.894+55C>A)
c.789+55C>A (n.789+55C>A)
 gnomAD v4
3g.122262467C>TCA2667225272CASRc.1377+55C>T (n.1377+55C>T)
c.894+55C>T (n.894+55C>T)
c.789+55C>T (n.789+55C>T)
 gnomAD v4
3g.122262468A=CA1397874092CASRc.1377+56A= (n.1377+56A=)
c.894+56A= (n.894+56A=)
c.789+56A= (n.789+56A=)
3g.122262468A>GCA1397874094CASRc.1377+56A>G (n.1377+56A>G)
c.894+56A>G (n.894+56A>G)
c.789+56A>G (n.789+56A>G)
 dbSNP gnomAD v4

Number of alleles fetched