Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122262324C>ACA354153001CASRc.1289C>A (p.Ala430Asp)
c.806C>A (p.Ala269Asp)
c.701C>A (p.Ala234Asp)
3g.122262324C>GCA354153002CASRc.1289C>G (p.Ala430Gly)
c.806C>G (p.Ala269Gly)
c.701C>G (p.Ala234Gly)
3g.122262324C>TCA354153003CASRc.1289C>T (p.Ala430Val)
c.806C>T (p.Ala269Val)
c.701C>T (p.Ala234Val)
3g.122262325C>ACA435424868CASRc.1290C>A (p.Ala430=)
c.807C>A (p.Ala269=)
c.702C>A (p.Ala234=)
3g.122262325C>GCA435424871CASRc.1290C>G (p.Ala430=)
c.807C>G (p.Ala269=)
c.702C>G (p.Ala234=)
3g.122262325C>TCA435424870CASRc.1290C>T (p.Ala430=)
c.807C>T (p.Ala269=)
c.702C>T (p.Ala234=)
3g.122262326T>ACA354153004CASRc.1291T>A (p.Leu431Met)
c.808T>A (p.Leu270Met)
c.703T>A (p.Leu235Met)
3g.122262326T>CCA435424872CASRc.1291T>C (p.Leu431=)
c.808T>C (p.Leu270=)
c.703T>C (p.Leu235=)
 gnomAD v4
3g.122262326T>GCA354153005CASRc.1291T>G (p.Leu431Val)
c.808T>G (p.Leu270Val)
c.703T>G (p.Leu235Val)
3g.122262327T>ACA354153006CASRc.1292T>A (p.Leu431Ter)
c.809T>A (p.Leu270Ter)
c.704T>A (p.Leu235Ter)
3g.122262327T>CCA354153007CASRc.1292T>C (p.Leu431Ser)
c.809T>C (p.Leu270Ser)
c.704T>C (p.Leu235Ser)
3g.122262327T>GCA354153008CASRc.1292T>G (p.Leu431Trp)
c.809T>G (p.Leu270Trp)
c.704T>G (p.Leu235Trp)
3g.122262328G>ACA435424878CASRc.1293G>A (p.Leu431=)
c.810G>A (p.Leu270=)
c.705G>A (p.Leu235=)
 ClinVar dbSNP gnomAD v4
3g.122262328G>CCA354153009CASRc.1293G>C (p.Leu431Phe)
c.810G>C (p.Leu270Phe)
c.705G>C (p.Leu235Phe)
3g.122262328G>TCA354153010CASRc.1293G>T (p.Leu431Phe)
c.810G>T (p.Leu270Phe)
c.705G>T (p.Leu235Phe)
3g.122262329C>ACA354153011CASRc.1294C>A (p.Gln432Lys)
c.811C>A (p.Gln271Lys)
c.706C>A (p.Gln236Lys)
3g.122262329C>GCA354153012CASRc.1294C>G (p.Gln432Glu)
c.811C>G (p.Gln271Glu)
c.706C>G (p.Gln236Glu)
3g.122262329C>TCA354153013CASRc.1294C>T (p.Gln432Ter)
c.811C>T (p.Gln271Ter)
c.706C>T (p.Gln236Ter)
 COSMIC
3g.122262330A>CCA354153014CASRc.1295A>C (p.Gln432Pro)
c.812A>C (p.Gln271Pro)
c.707A>C (p.Gln236Pro)
 ClinVar
3g.122262330A>GCA354153015CASRc.1295A>G (p.Gln432Arg)
c.812A>G (p.Gln271Arg)
c.707A>G (p.Gln236Arg)
3g.122262330A>TCA354153016CASRc.1295A>T (p.Gln432Leu)
c.812A>T (p.Gln271Leu)
c.707A>T (p.Gln236Leu)
3g.122262331A>CCA354153017CASRc.1296A>C (p.Gln432His)
c.813A>C (p.Gln271His)
c.708A>C (p.Gln236His)
3g.122262331A>GCA435424895CASRc.1296A>G (p.Gln432=)
c.813A>G (p.Gln271=)
c.708A>G (p.Gln236=)
 ClinVar
3g.122262331A>TCA354153018CASRc.1296A>T (p.Gln432His)
c.813A>T (p.Gln271His)
c.708A>T (p.Gln236His)
3g.122262332G>ACA354153019CASRc.1297G>A (p.Asp433Asn)
c.814G>A (p.Asp272Asn)
c.709G>A (p.Asp237Asn)
3g.122262332G>CCA2569620CASRc.1297G>C (p.Asp433His)
c.814G>C (p.Asp272His)
c.709G>C (p.Asp237His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262332G=CA1397873887CASRc.1297G= (p.Asp433=)
c.814G= (p.Asp272=)
c.709G= (p.Asp237=)
3g.122262332G>TCA2569621CASRc.1297G>T (p.Asp433Tyr)
c.814G>T (p.Asp272Tyr)
c.709G>T (p.Asp237Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262333A>CCA354153020CASRc.1298A>C (p.Asp433Ala)
c.815A>C (p.Asp272Ala)
c.710A>C (p.Asp237Ala)
3g.122262333A>GCA354153021CASRc.1298A>G (p.Asp433Gly)
c.815A>G (p.Asp272Gly)
c.710A>G (p.Asp237Gly)
3g.122262333A>TCA354153022CASRc.1298A>T (p.Asp433Val)
c.815A>T (p.Asp272Val)
c.710A>T (p.Asp237Val)
 gnomAD v4
3g.122262340_122262341dupCA2580574405CASRc.1305_1306dup (p.Thr436IlefsTer?)
c.1305_1306dup (p.Thr436IlefsTer27)
c.822_823dup (p.Thr275IlefsTer27)
c.717_718dup (p.Thr240IlefsTer27)
3g.122262336_122262341delCA2695199275CASRc.1301_1306del (p.Ile434_Tyr435del)
c.818_823del (p.Ile273_Tyr274del)
c.713_718del (p.Ile238_Tyr239del)
 ClinVar
3g.122262334T>ACA354153023CASRc.1299T>A (p.Asp433Glu)
c.816T>A (p.Asp272Glu)
c.711T>A (p.Asp237Glu)
3g.122262334T>CCA435424912CASRc.1299T>C (p.Asp433=)
c.816T>C (p.Asp272=)
c.711T>C (p.Asp237=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262334T>GCA354153024CASRc.1299T>G (p.Asp433Glu)
c.816T>G (p.Asp272Glu)
c.711T>G (p.Asp237Glu)
3g.122262334T=CA1397873894CASRc.1299T= (p.Asp433=)
c.816T= (p.Asp272=)
c.711T= (p.Asp237=)
3g.122262335A>CCA354153025CASRc.1300A>C (p.Ile434Leu)
c.817A>C (p.Ile273Leu)
c.712A>C (p.Ile238Leu)
 gnomAD v4
3g.122262335A>GCA354153026CASRc.1300A>G (p.Ile434Val)
c.817A>G (p.Ile273Val)
c.712A>G (p.Ile238Val)
3g.122262335A>TCA354153027CASRc.1300A>T (p.Ile434Leu)
c.817A>T (p.Ile273Leu)
c.712A>T (p.Ile238Leu)
3g.122262336T>ACA354153030CASRc.1301T>A (p.Ile434Lys)
c.818T>A (p.Ile273Lys)
c.713T>A (p.Ile238Lys)
3g.122262336T>CCA354153029CASRc.1301T>C (p.Ile434Thr)
c.818T>C (p.Ile273Thr)
c.713T>C (p.Ile238Thr)
 ClinVar dbSNP
3g.122262336T>GCA354153028CASRc.1301T>G (p.Ile434Arg)
c.818T>G (p.Ile273Arg)
c.713T>G (p.Ile238Arg)
3g.122262336T=CA1397873896CASRc.1301T= (p.Ile434=)
c.818T= (p.Ile273=)
c.713T= (p.Ile238=)
3g.122262337A=CA1397873903CASRc.1302A= (p.Ile434=)
c.819A= (p.Ile273=)
c.714A= (p.Ile238=)
3g.122262337A>CCA435424919CASRc.1302A>C (p.Ile434=)
c.819A>C (p.Ile273=)
c.714A>C (p.Ile238=)
 gnomAD v4
3g.122262337A>GCA354153031CASRc.1302A>G (p.Ile434Met)
c.819A>G (p.Ile273Met)
c.714A>G (p.Ile238Met)
 ClinVar dbSNP gnomAD v4
3g.122262337A>TCA435424921CASRc.1302A>T (p.Ile434=)
c.819A>T (p.Ile273=)
c.714A>T (p.Ile238=)
3g.122262338T>ACA354153032CASRc.1303T>A (p.Tyr435Asn)
c.820T>A (p.Tyr274Asn)
c.715T>A (p.Tyr239Asn)
3g.122262338T>CCA354153033CASRc.1303T>C (p.Tyr435His)
c.820T>C (p.Tyr274His)
c.715T>C (p.Tyr239His)
 dbSNP gnomAD v2 gnomAD v4
3g.122262338T>GCA354153034CASRc.1303T>G (p.Tyr435Asp)
c.820T>G (p.Tyr274Asp)
c.715T>G (p.Tyr239Asp)
3g.122262338T=CA1397873906CASRc.1303T= (p.Tyr435=)
c.820T= (p.Tyr274=)
c.715T= (p.Tyr239=)
3g.122262339A=CA1397873909CASRc.1304A= (p.Tyr435=)
c.821A= (p.Tyr274=)
c.716A= (p.Tyr239=)
3g.122262339A>CCA354153035CASRc.1304A>C (p.Tyr435Ser)
c.821A>C (p.Tyr274Ser)
c.716A>C (p.Tyr239Ser)
 gnomAD v4
3g.122262339A>GCA354153036CASRc.1304A>G (p.Tyr435Cys)
c.821A>G (p.Tyr274Cys)
c.716A>G (p.Tyr239Cys)
 ClinVar
3g.122262339A>TCA354153037CASRc.1304A>T (p.Tyr435Phe)
c.821A>T (p.Tyr274Phe)
c.716A>T (p.Tyr239Phe)
 ClinVar dbSNP COSMIC
3g.122262340T>ACA354153038CASRc.1305T>A (p.Tyr435Ter)
c.822T>A (p.Tyr274Ter)
c.717T>A (p.Tyr239Ter)
3g.122262340T>CCA435424934CASRc.1305T>C (p.Tyr435=)
c.822T>C (p.Tyr274=)
c.717T>C (p.Tyr239=)
 ClinVar dbSNP
3g.122262340T>GCA354153039CASRc.1305T>G (p.Tyr435Ter)
c.822T>G (p.Tyr274Ter)
c.717T>G (p.Tyr239Ter)
3g.122262340T=CA1397873916CASRc.1305T= (p.Tyr435=)
c.822T= (p.Tyr274=)
c.717T= (p.Tyr239=)
3g.122262341A>CCA354153040CASRc.1306A>C (p.Thr436Pro)
c.823A>C (p.Thr275Pro)
c.718A>C (p.Thr240Pro)
3g.122262341A>GCA354153041CASRc.1306A>G (p.Thr436Ala)
c.823A>G (p.Thr275Ala)
c.718A>G (p.Thr240Ala)
3g.122262341A>TCA354153042CASRc.1306A>T (p.Thr436Ser)
c.823A>T (p.Thr275Ser)
c.718A>T (p.Thr240Ser)
3g.122262341_122262342delCA2667225082CASRc.1306_1307del (p.Thr436LeufsTer20)
c.823_824del (p.Thr275LeufsTer20)
c.718_719del (p.Thr240LeufsTer20)
 gnomAD v4
3g.122262342C>ACA354153044CASRc.1307C>A (p.Thr436Asn)
c.824C>A (p.Thr275Asn)
c.719C>A (p.Thr240Asn)
 dbSNP
3g.122262342C=CA1397873922CASRc.1307C= (p.Thr436=)
c.824C= (p.Thr275=)
c.719C= (p.Thr240=)
3g.122262342C>GCA354153045CASRc.1307C>G (p.Thr436Ser)
c.824C>G (p.Thr275Ser)
c.719C>G (p.Thr240Ser)
 ClinVar dbSNP
3g.122262342C>TCA354153043CASRc.1307C>T (p.Thr436Ile)
c.824C>T (p.Thr275Ile)
c.719C>T (p.Thr240Ile)
3g.122262343C>ACA435424941CASRc.1308C>A (p.Thr436=)
c.825C>A (p.Thr275=)
c.720C>A (p.Thr240=)
3g.122262343C>GCA435424946CASRc.1308C>G (p.Thr436=)
c.825C>G (p.Thr275=)
c.720C>G (p.Thr240=)
3g.122262343C>TCA435424949CASRc.1308C>T (p.Thr436=)
c.825C>T (p.Thr275=)
c.720C>T (p.Thr240=)
3g.122262344T>ACA354153048CASRc.1309T>A (p.Cys437Ser)
c.826T>A (p.Cys276Ser)
c.721T>A (p.Cys241Ser)
 ClinVar dbSNP
3g.122262344T>CCA354153046CASRc.1309T>C (p.Cys437Arg)
c.826T>C (p.Cys276Arg)
c.721T>C (p.Cys241Arg)
 ClinVar dbSNP
3g.122262344T>GCA354153047CASRc.1309T>G (p.Cys437Gly)
c.826T>G (p.Cys276Gly)
c.721T>G (p.Cys241Gly)
3g.122262344T=CA1397873927CASRc.1309T= (p.Cys437=)
c.826T= (p.Cys276=)
c.721T= (p.Cys241=)
3g.122262345G>ACA354153049CASRc.1310G>A (p.Cys437Tyr)
c.827G>A (p.Cys276Tyr)
c.722G>A (p.Cys241Tyr)
3g.122262345G>CCA354153050CASRc.1310G>C (p.Cys437Ser)
c.827G>C (p.Cys276Ser)
c.722G>C (p.Cys241Ser)
3g.122262345G>TCA354153053CASRc.1310G>T (p.Cys437Phe)
c.827G>T (p.Cys276Phe)
c.722G>T (p.Cys241Phe)
3g.122262346C>ACA354153056CASRc.1311C>A (p.Cys437Ter)
c.828C>A (p.Cys276Ter)
c.723C>A (p.Cys241Ter)
3g.122262346C>GCA354153058CASRc.1311C>G (p.Cys437Trp)
c.828C>G (p.Cys276Trp)
c.723C>G (p.Cys241Trp)
3g.122262346C>TCA435424956CASRc.1311C>T (p.Cys437=)
c.828C>T (p.Cys276=)
c.723C>T (p.Cys241=)
 ClinVar dbSNP
3g.122262347T>ACA354153061CASRc.1312T>A (p.Leu438Ile)
c.829T>A (p.Leu277Ile)
c.724T>A (p.Leu242Ile)
3g.122262347T>CCA435424958CASRc.1312T>C (p.Leu438=)
c.829T>C (p.Leu277=)
c.724T>C (p.Leu242=)
 ClinVar dbSNP
3g.122262347T>GCA354153063CASRc.1312T>G (p.Leu438Val)
c.829T>G (p.Leu277Val)
c.724T>G (p.Leu242Val)
3g.122262347T=CA1397873930CASRc.1312T= (p.Leu438=)
c.829T= (p.Leu277=)
c.724T= (p.Leu242=)
3g.122262348T>ACA354153066CASRc.1313T>A (p.Leu438Ter)
c.830T>A (p.Leu277Ter)
c.725T>A (p.Leu242Ter)
3g.122262348T>CCA354153068CASRc.1313T>C (p.Leu438Ser)
c.830T>C (p.Leu277Ser)
c.725T>C (p.Leu242Ser)
 ClinVar
3g.122262348T>GCA354153070CASRc.1313T>G (p.Leu438Ter)
c.830T>G (p.Leu277Ter)
c.725T>G (p.Leu242Ter)
3g.122262349A>CCA354153072CASRc.1314A>C (p.Leu438Phe)
c.831A>C (p.Leu277Phe)
c.726A>C (p.Leu242Phe)
3g.122262349A>GCA435424961CASRc.1314A>G (p.Leu438=)
c.831A>G (p.Leu277=)
c.726A>G (p.Leu242=)
3g.122262349A>TCA354153073CASRc.1314A>T (p.Leu438Phe)
c.831A>T (p.Leu277Phe)
c.726A>T (p.Leu242Phe)
3g.122262350C>ACA354153075CASRc.1315C>A (p.Pro439Thr)
c.832C>A (p.Pro278Thr)
c.727C>A (p.Pro243Thr)
 COSMIC
3g.122262350C>GCA354153078CASRc.1315C>G (p.Pro439Ala)
c.832C>G (p.Pro278Ala)
c.727C>G (p.Pro243Ala)
3g.122262350C>TCA354153076CASRc.1315C>T (p.Pro439Ser)
c.832C>T (p.Pro278Ser)
c.727C>T (p.Pro243Ser)
3g.122262351C>ACA354153081CASRc.1316C>A (p.Pro439His)
c.833C>A (p.Pro278His)
c.728C>A (p.Pro243His)
 ClinVar dbSNP
3g.122262351C=CA1397873934CASRc.1316C= (p.Pro439=)
c.833C= (p.Pro278=)
c.728C= (p.Pro243=)
3g.122262351C>GCA354153083CASRc.1316C>G (p.Pro439Arg)
c.833C>G (p.Pro278Arg)
c.728C>G (p.Pro243Arg)
3g.122262351C>TCA354153086CASRc.1316C>T (p.Pro439Leu)
c.833C>T (p.Pro278Leu)
c.728C>T (p.Pro243Leu)
3g.122262352T>ACA435424969CASRc.1317T>A (p.Pro439=)
c.834T>A (p.Pro278=)
c.729T>A (p.Pro243=)
3g.122262352T>CCA2569622CASRc.1317T>C (p.Pro439=)
c.834T>C (p.Pro278=)
c.729T>C (p.Pro243=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262352T>GCA435424973CASRc.1317T>G (p.Pro439=)
c.834T>G (p.Pro278=)
c.729T>G (p.Pro243=)
3g.122262352T=CA1397873936CASRc.1317T= (p.Pro439=)
c.834T= (p.Pro278=)
c.729T= (p.Pro243=)
3g.122262353G>ACA354153091CASRc.1318G>A (p.Gly440Arg)
c.835G>A (p.Gly279Arg)
c.730G>A (p.Gly244Arg)
3g.122262353G>CCA354153093CASRc.1318G>C (p.Gly440Arg)
c.835G>C (p.Gly279Arg)
c.730G>C (p.Gly244Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262353G=CA1397873937CASRc.1318G= (p.Gly440=)
c.835G= (p.Gly279=)
c.730G= (p.Gly244=)
3g.122262353G>TCA354153095CASRc.1318G>T (p.Gly440Trp)
c.835G>T (p.Gly279Trp)
c.730G>T (p.Gly244Trp)
3g.122262355delCA435424977CASRc.1320del (p.Arg441GlufsTer?)
c.1320del (p.Arg441GlufsTer21)
c.837del (p.Arg280GlufsTer21)
c.732del (p.Arg245GlufsTer21)
 COSMIC
3g.122262354G>ACA354153098CASRc.1319G>A (p.Gly440Glu)
c.836G>A (p.Gly279Glu)
c.731G>A (p.Gly244Glu)
 ClinVar COSMIC
3g.122262354G>CCA354153100CASRc.1319G>C (p.Gly440Ala)
c.836G>C (p.Gly279Ala)
c.731G>C (p.Gly244Ala)
3g.122262354G>TCA354153103CASRc.1319G>T (p.Gly440Val)
c.836G>T (p.Gly279Val)
c.731G>T (p.Gly244Val)
3g.122262355G>ACA435424983CASRc.1320G>A (p.Gly440=)
c.837G>A (p.Gly279=)
c.732G>A (p.Gly244=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262355G>CCA435424987CASRc.1320G>C (p.Gly440=)
c.837G>C (p.Gly279=)
c.732G>C (p.Gly244=)
3g.122262355G=CA1397873938CASRc.1320G= (p.Gly440=)
c.837G= (p.Gly279=)
c.732G= (p.Gly244=)
3g.122262355G>TCA82739119CASRc.1320G>T (p.Gly440=)
c.837G>T (p.Gly279=)
c.732G>T (p.Gly244=)
 dbSNP gnomAD v2 gnomAD v4
3g.122262356A>CCA435424988CASRc.1321A>C (p.Arg441=)
c.838A>C (p.Arg280=)
c.733A>C (p.Arg245=)
3g.122262356A>GCA354153108CASRc.1321A>G (p.Arg441Gly)
c.838A>G (p.Arg280Gly)
c.733A>G (p.Arg245Gly)
3g.122262356A>TCA354153110CASRc.1321A>T (p.Arg441Ter)
c.838A>T (p.Arg280Ter)
c.733A>T (p.Arg245Ter)
3g.122262357G>ACA354153113CASRc.1322G>A (p.Arg441Lys)
c.839G>A (p.Arg280Lys)
c.734G>A (p.Arg245Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262357G>CCA354153115CASRc.1322G>C (p.Arg441Thr)
c.839G>C (p.Arg280Thr)
c.734G>C (p.Arg245Thr)
3g.122262357G=CA1397873939CASRc.1322G= (p.Arg441=)
c.839G= (p.Arg280=)
c.734G= (p.Arg245=)
3g.122262357G>TCA354153117CASRc.1322G>T (p.Arg441Ile)
c.839G>T (p.Arg280Ile)
c.734G>T (p.Arg245Ile)
3g.122262358A>CCA354153119CASRc.1323A>C (p.Arg441Ser)
c.840A>C (p.Arg280Ser)
c.735A>C (p.Arg245Ser)
3g.122262358A>GCA435424997CASRc.1323A>G (p.Arg441=)
c.840A>G (p.Arg280=)
c.735A>G (p.Arg245=)
 ClinVar
3g.122262358A>TCA354153121CASRc.1323A>T (p.Arg441Ser)
c.840A>T (p.Arg280Ser)
c.735A>T (p.Arg245Ser)
3g.122262359G>ACA354153129CASRc.1324G>A (p.Gly442Arg)
c.841G>A (p.Gly281Arg)
c.736G>A (p.Gly246Arg)
3g.122262359G>CCA354153127CASRc.1324G>C (p.Gly442Arg)
c.841G>C (p.Gly281Arg)
c.736G>C (p.Gly246Arg)
 gnomAD v4
3g.122262359G>TCA354153124CASRc.1324G>T (p.Gly442Trp)
c.841G>T (p.Gly281Trp)
c.736G>T (p.Gly246Trp)
3g.122262360G>ACA354153133CASRc.1325G>A (p.Gly442Glu)
c.842G>A (p.Gly281Glu)
c.737G>A (p.Gly246Glu)
3g.122262360G>CCA354153135CASRc.1325G>C (p.Gly442Ala)
c.842G>C (p.Gly281Ala)
c.737G>C (p.Gly246Ala)
3g.122262360G>TCA354153137CASRc.1325G>T (p.Gly442Val)
c.842G>T (p.Gly281Val)
c.737G>T (p.Gly246Val)
3g.122262361G>ACA435425003CASRc.1326G>A (p.Gly442=)
c.843G>A (p.Gly281=)
c.738G>A (p.Gly246=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262361G>CCA435425006CASRc.1326G>C (p.Gly442=)
c.843G>C (p.Gly281=)
c.738G>C (p.Gly246=)
3g.122262361G=CA1397873940CASRc.1326G= (p.Gly442=)
c.843G= (p.Gly281=)
c.738G= (p.Gly246=)
3g.122262361G>TCA435425007CASRc.1326G>T (p.Gly442=)
c.843G>T (p.Gly281=)
c.738G>T (p.Gly246=)
3g.122262362C>ACA16611301CASRc.1327C>A (p.Leu443Ile)
c.844C>A (p.Leu282Ile)
c.739C>A (p.Leu247Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262362C=CA1397873941CASRc.1327C= (p.Leu443=)
c.844C= (p.Leu282=)
c.739C= (p.Leu247=)
3g.122262362C>GCA354153141CASRc.1327C>G (p.Leu443Val)
c.844C>G (p.Leu282Val)
c.739C>G (p.Leu247Val)
3g.122262362C>TCA82739130CASRc.1327C>T (p.Leu443Phe)
c.844C>T (p.Leu282Phe)
c.739C>T (p.Leu247Phe)
 ClinVar dbSNP gnomAD v4
3g.122262363T>ACA354153146CASRc.1328T>A (p.Leu443His)
c.845T>A (p.Leu282His)
c.740T>A (p.Leu247His)
3g.122262363T>CCA354153148CASRc.1328T>C (p.Leu443Pro)
c.845T>C (p.Leu282Pro)
c.740T>C (p.Leu247Pro)
 ClinVar dbSNP
3g.122262363T>GCA354153147CASRc.1328T>G (p.Leu443Arg)
c.845T>G (p.Leu282Arg)
c.740T>G (p.Leu247Arg)
 ClinVar
3g.122262364C>ACA435425013CASRc.1329C>A (p.Leu443=)
c.846C>A (p.Leu282=)
c.741C>A (p.Leu247=)
3g.122262364C>GCA435425015CASRc.1329C>G (p.Leu443=)
c.846C>G (p.Leu282=)
c.741C>G (p.Leu247=)
3g.122262364C>TCA435425016CASRc.1329C>T (p.Leu443=)
c.846C>T (p.Leu282=)
c.741C>T (p.Leu247=)
3g.122262365T>ACA354153150CASRc.1330T>A (p.Phe444Ile)
c.847T>A (p.Phe283Ile)
c.742T>A (p.Phe248Ile)
3g.122262365T>CCA354153152CASRc.1330T>C (p.Phe444Leu)
c.847T>C (p.Phe283Leu)
c.742T>C (p.Phe248Leu)
3g.122262365T>GCA354153154CASRc.1330T>G (p.Phe444Val)
c.847T>G (p.Phe283Val)
c.742T>G (p.Phe248Val)
3g.122262366T>ACA354153157CASRc.1331T>A (p.Phe444Tyr)
c.848T>A (p.Phe283Tyr)
c.743T>A (p.Phe248Tyr)
3g.122262366T>CCA354153159CASRc.1331T>C (p.Phe444Ser)
c.848T>C (p.Phe283Ser)
c.743T>C (p.Phe248Ser)
3g.122262366T>GCA354153161CASRc.1331T>G (p.Phe444Cys)
c.848T>G (p.Phe283Cys)
c.743T>G (p.Phe248Cys)
 ClinVar
3g.122262367C>ACA354153164CASRc.1332C>A (p.Phe444Leu)
c.849C>A (p.Phe283Leu)
c.744C>A (p.Phe248Leu)
 gnomAD v4
3g.122262367C>GCA354153166CASRc.1332C>G (p.Phe444Leu)
c.849C>G (p.Phe283Leu)
c.744C>G (p.Phe248Leu)
3g.122262367C>TCA435425023CASRc.1332C>T (p.Phe444=)
c.849C>T (p.Phe283=)
c.744C>T (p.Phe248=)
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

Number of alleles fetched