Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.31269175_31269179delCA2539786776B3GLCTc.597-39_597-35del (n.597-39_597-35del)
n.212-39_212-35del
c.540-39_540-35del (n.540-39_540-35del)
c.450-39_450-35del (n.450-39_450-35del)
n.696-39_696-35del
 gnomAD v4
13g.31269179delCA2622574768B3GLCTc.597-35del (n.597-35del)
n.212-35del
c.540-35del (n.540-35del)
c.450-35del (n.450-35del)
n.696-35del
 gnomAD v4
13g.31269178T>CCA247423960B3GLCTc.597-36T>C (n.597-36T>C)
n.212-36T>C
c.540-36T>C (n.540-36T>C)
c.450-36T>C (n.450-36T>C)
n.696-36T>C
 dbSNP gnomAD v4
13g.31269178T>GCA2622574773B3GLCTc.597-36T>G (n.597-36T>G)
n.212-36T>G
c.540-36T>G (n.540-36T>G)
c.450-36T>G (n.450-36T>G)
n.696-36T>G
 gnomAD v4
13g.31269178T=CA2082318134B3GLCTc.597-36T= (n.597-36T=)
n.212-36T=
c.540-36T= (n.540-36T=)
c.450-36T= (n.450-36T=)
n.696-36T=
13g.31269180G=CA2082318136B3GLCTc.597-34G= (n.597-34G=)
n.212-34G=
c.540-34G= (n.540-34G=)
c.450-34G= (n.450-34G=)
n.696-34G=
13g.31269180G>TCA6936653B3GLCTc.597-34G>T (n.597-34G>T)
n.212-34G>T
c.540-34G>T (n.540-34G>T)
c.450-34G>T (n.450-34G>T)
n.696-34G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.31269181G>ACA697295026B3GLCTc.597-33G>A (n.597-33G>A)
n.212-33G>A
c.540-33G>A (n.540-33G>A)
c.450-33G>A (n.450-33G>A)
n.696-33G>A
 dbSNP gnomAD v4
13g.31269181G=CA2082318138B3GLCTc.597-33G= (n.597-33G=)
n.212-33G=
c.540-33G= (n.540-33G=)
c.450-33G= (n.450-33G=)
n.696-33G=
13g.31269181G>TCA2622574775B3GLCTc.597-33G>T (n.597-33G>T)
n.212-33G>T
c.540-33G>T (n.540-33G>T)
c.450-33G>T (n.450-33G>T)
n.696-33G>T
 gnomAD v4
13g.31269182T>CCA2622574776B3GLCTc.597-32T>C (n.597-32T>C)
n.212-32T>C
c.540-32T>C (n.540-32T>C)
c.450-32T>C (n.450-32T>C)
n.696-32T>C
 gnomAD v4
13g.31269183_31269184delinsTACA2588340715B3GLCTc.597-31_597-30delinsTA (n.597-31_597-30delinsTA)
n.212-31_212-30delinsTA
c.540-31_540-30delinsTA (n.540-31_540-30delinsTA)
c.450-31_450-30delinsTA (n.450-31_450-30delinsTA)
n.696-31_696-30delinsTA
13g.31269183_31269185delinsTAACA2082318141B3GLCTc.597-31_597-29delinsTAA (n.597-31_597-29delinsTAA)
n.212-31_212-29delinsTAA
c.540-31_540-29delinsTAA (n.540-31_540-29delinsTAA)
c.450-31_450-29delinsTAA (n.450-31_450-29delinsTAA)
n.696-31_696-29delinsTAA
13g.31269184A=CA2082318146B3GLCTc.597-30A= (n.597-30A=)
n.212-30A=
c.540-30A= (n.540-30A=)
c.450-30A= (n.450-30A=)
n.696-30A=
13g.31269184A>TCA2082318147B3GLCTc.597-30A>T (n.597-30A>T)
n.212-30A>T
c.540-30A>T (n.540-30A>T)
c.450-30A>T (n.450-30A>T)
n.696-30A>T
 dbSNP gnomAD v4
13g.31269191dupCA6936655B3GLCTc.597-23dup (n.597-23dup)
n.212-23dup
c.540-23dup (n.540-23dup)
c.450-23dup (n.450-23dup)
n.696-23dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269191delCA6936654B3GLCTc.597-23del (n.597-23del)
n.212-23del
c.540-23del (n.540-23del)
c.450-23del (n.450-23del)
n.696-23del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269190_31269191delCA2082318144B3GLCTc.597-24_597-23del (n.597-24_597-23del)
n.212-24_212-23del
c.540-24_540-23del (n.540-24_540-23del)
c.450-24_450-23del (n.450-24_450-23del)
n.696-24_696-23del
 dbSNP gnomAD v4
13g.31269188A>CCA2575384934B3GLCTc.597-26A>C (n.597-26A>C)
n.212-26A>C
c.540-26A>C (n.540-26A>C)
c.450-26A>C (n.450-26A>C)
n.696-26A>C
13g.31269190A>TCA2622574782B3GLCTc.597-24A>T (n.597-24A>T)
n.212-24A>T
c.540-24A>T (n.540-24A>T)
c.450-24A>T (n.450-24A>T)
n.696-24A>T
 gnomAD v4
13g.31269191A=CA2082318149B3GLCTc.597-23A= (n.597-23A=)
n.212-23A=
c.540-23A= (n.540-23A=)
c.450-23A= (n.450-23A=)
n.696-23A=
13g.31269191A>CCA2082318150B3GLCTc.597-23A>C (n.597-23A>C)
n.212-23A>C
c.540-23A>C (n.540-23A>C)
c.450-23A>C (n.450-23A>C)
n.696-23A>C
 dbSNP
13g.31269191_31269192delinsATCA2082318152B3GLCTc.597-23_597-22delinsAT (n.597-23_597-22delinsAT)
n.212-23_212-22delinsAT
c.540-23_540-22delinsAT (n.540-23_540-22delinsAT)
c.450-23_450-22delinsAT (n.450-23_450-22delinsAT)
n.696-23_696-22delinsAT
13g.31269192delCA6936656B3GLCTc.597-22del (n.597-22del)
n.212-22del
c.540-22del (n.540-22del)
c.450-22del (n.450-22del)
n.696-22del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.31269193delCA2622574786B3GLCTc.597-21del (n.597-21del)
n.212-21del
c.540-21del (n.540-21del)
c.450-21del (n.450-21del)
n.696-21del
 gnomAD v4
13g.31269193C>ACA2622574785B3GLCTc.597-21C>A (n.597-21C>A)
n.212-21C>A
c.540-21C>A (n.540-21C>A)
c.450-21C>A (n.450-21C>A)
n.696-21C>A
 gnomAD v4
13g.31269193C=CA2082318154B3GLCTc.597-21C= (n.597-21C=)
n.212-21C=
c.540-21C= (n.540-21C=)
c.450-21C= (n.450-21C=)
n.696-21C=
13g.31269193C>GCA2622574787B3GLCTc.597-21C>G (n.597-21C>G)
n.212-21C>G
c.540-21C>G (n.540-21C>G)
c.450-21C>G (n.450-21C>G)
n.696-21C>G
 gnomAD v4
13g.31269193C>TCA483257150B3GLCTc.597-21C>T (n.597-21C>T)
n.212-21C>T
c.540-21C>T (n.540-21C>T)
c.450-21C>T (n.450-21C>T)
n.696-21C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.31269195A>GCA2575384935B3GLCTc.597-19A>G (n.597-19A>G)
n.212-19A>G
c.540-19A>G (n.540-19A>G)
c.450-19A>G (n.450-19A>G)
n.696-19A>G
13g.31269196A>GCA2622574788B3GLCTc.597-18A>G (n.597-18A>G)
n.212-18A>G
c.540-18A>G (n.540-18A>G)
c.450-18A>G (n.450-18A>G)
n.696-18A>G
 gnomAD v4
13g.31269197T>CCA2622574789B3GLCTc.597-17T>C (n.597-17T>C)
n.212-17T>C
c.540-17T>C (n.540-17T>C)
c.450-17T>C (n.450-17T>C)
n.696-17T>C
 gnomAD v4
13g.31269198T>CCA954610637B3GLCTc.597-16T>C (n.597-16T>C)
n.212-16T>C
c.540-16T>C (n.540-16T>C)
c.450-16T>C (n.450-16T>C)
n.696-16T>C
 dbSNP gnomAD v3 gnomAD v4
13g.31269198T=CA2082318155B3GLCTc.597-16T= (n.597-16T=)
n.212-16T=
c.540-16T= (n.540-16T=)
c.450-16T= (n.450-16T=)
n.696-16T=
13g.31269199G=CA2082318159B3GLCTc.597-15G= (n.597-15G=)
n.212-15G=
c.540-15G= (n.540-15G=)
c.450-15G= (n.450-15G=)
n.696-15G=
13g.31269199G>TCA2082318160B3GLCTc.597-15G>T (n.597-15G>T)
n.212-15G>T
c.540-15G>T (n.540-15G>T)
c.450-15G>T (n.450-15G>T)
n.696-15G>T
 dbSNP
13g.31269199_31269201delinsGTCCA2082318157B3GLCTc.597-15_597-13delinsGTC (n.597-15_597-13delinsGTC)
n.212-15_212-13delinsGTC
c.540-15_540-13delinsGTC (n.540-15_540-13delinsGTC)
c.450-15_450-13delinsGTC (n.450-15_450-13delinsGTC)
n.696-15_696-13delinsGTC
13g.31269200T>CCA2622574790B3GLCTc.597-14T>C (n.597-14T>C)
n.212-14T>C
c.540-14T>C (n.540-14T>C)
c.450-14T>C (n.450-14T>C)
n.696-14T>C
 gnomAD v4
13g.31269203_31269204delCA6936657B3GLCTc.597-11_597-10del (n.597-11_597-10del)
n.212-11_212-10del
c.540-11_540-10del (n.540-11_540-10del)
c.450-11_450-10del (n.450-11_450-10del)
n.696-11_696-10del
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.31269201C>ACA2622574791B3GLCTc.597-13C>A (n.597-13C>A)
n.212-13C>A
c.540-13C>A (n.540-13C>A)
c.450-13C>A (n.450-13C>A)
n.696-13C>A
 gnomAD v4
13g.31269202T>CCA2622574792B3GLCTc.597-12T>C (n.597-12T>C)
n.212-12T>C
c.540-12T>C (n.540-12T>C)
c.450-12T>C (n.450-12T>C)
n.696-12T>C
 gnomAD v4
13g.31269203C=CA2082318166B3GLCTc.597-11C= (n.597-11C=)
n.212-11C=
c.540-11C= (n.540-11C=)
c.450-11C= (n.450-11C=)
n.696-11C=
13g.31269203C>GCA6936659B3GLCTc.597-11C>G (n.597-11C>G)
n.212-11C>G
c.540-11C>G (n.540-11C>G)
c.450-11C>G (n.450-11C>G)
n.696-11C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269203C>TCA6936658B3GLCTc.597-11C>T (n.597-11C>T)
n.212-11C>T
c.540-11C>T (n.540-11C>T)
c.450-11C>T (n.450-11C>T)
n.696-11C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.31269204T>CCA609065035B3GLCTc.597-10T>C (n.597-10T>C)
n.212-10T>C
c.540-10T>C (n.540-10T>C)
c.450-10T>C (n.450-10T>C)
n.696-10T>C
 dbSNP gnomAD v2 gnomAD v4
13g.31269204T=CA2082318168B3GLCTc.597-10T= (n.597-10T=)
n.212-10T=
c.540-10T= (n.540-10T=)
c.450-10T= (n.450-10T=)
n.696-10T=
13g.31269204dupCA2520707972B3GLCTc.597-10dup (n.597-10dup)
n.212-10dup
c.540-10dup (n.540-10dup)
c.450-10dup (n.450-10dup)
n.696-10dup
13g.31269205A>GCA2622574801B3GLCTc.597-9A>G (n.597-9A>G)
n.212-9A>G
c.540-9A>G (n.540-9A>G)
c.450-9A>G (n.450-9A>G)
n.696-9A>G
 gnomAD v4
13g.31269207T>CCA609065038B3GLCTc.597-7T>C (n.597-7T>C)
n.212-7T>C
c.540-7T>C (n.540-7T>C)
c.450-7T>C (n.450-7T>C)
n.696-7T>C
 dbSNP gnomAD v2 gnomAD v4
13g.31269207T=CA2082318170B3GLCTc.597-7T= (n.597-7T=)
n.212-7T=
c.540-7T= (n.540-7T=)
c.450-7T= (n.450-7T=)
n.696-7T=
13g.31269208_31269210delinsTTCCA2082318172B3GLCTc.597-6_597-4delinsTTC (n.597-6_597-4delinsTTC)
n.212-6_212-4delinsTTC
c.540-6_540-4delinsTTC (n.540-6_540-4delinsTTC)
c.450-6_450-4delinsTTC (n.450-6_450-4delinsTTC)
n.696-6_696-4delinsTTC
13g.31269209T>CCA2622574802B3GLCTc.597-5T>C (n.597-5T>C)
n.212-5T>C
c.540-5T>C (n.540-5T>C)
c.450-5T>C (n.450-5T>C)
n.696-5T>C
 gnomAD v4
13g.31269210_31269211delCA2082318173B3GLCTc.597-4_597-3del (n.597-4_597-3del)
n.212-4_212-3del
c.540-4_540-3del (n.540-4_540-3del)
c.450-4_450-3del (n.450-4_450-3del)
n.696-4_696-3del
 dbSNP
13g.31269210C>ACA2622574803B3GLCTc.597-4C>A (n.597-4C>A)
n.212-4C>A
c.540-4C>A (n.540-4C>A)
c.450-4C>A (n.450-4C>A)
n.696-4C>A
 gnomAD v4
13g.31269210C=CA2082318174B3GLCTc.597-4C= (n.597-4C=)
n.212-4C=
c.540-4C= (n.540-4C=)
c.450-4C= (n.450-4C=)
n.696-4C=
13g.31269210C>GCA6936660B3GLCTc.597-4C>G (n.597-4C>G)
n.212-4C>G
c.540-4C>G (n.540-4C>G)
c.450-4C>G (n.450-4C>G)
n.696-4C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269212A=CA2082318177B3GLCTc.597-2A= (n.597-2A=)
n.212-2A=
c.540-2A= (n.540-2A=)
c.450-2A= (n.450-2A=)
n.696-2A=
13g.31269212A>CCA387720588B3GLCTc.597-2A>C (n.597-2A>C)
n.212-2A>C
c.540-2A>C (n.540-2A>C)
c.450-2A>C (n.450-2A>C)
n.696-2A>C
 gnomAD v4
13g.31269212A>GCA6936661B3GLCTc.597-2A>G (n.597-2A>G)
n.212-2A>G
c.540-2A>G (n.540-2A>G)
c.450-2A>G (n.450-2A>G)
n.696-2A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.31269212A>TCA387720592B3GLCTc.597-2A>T (n.597-2A>T)
n.212-2A>T
c.540-2A>T (n.540-2A>T)
c.450-2A>T (n.450-2A>T)
n.696-2A>T
 gnomAD v4
13g.31269213G>ACA6936662B3GLCTc.597-1G>A (n.597-1G>A)
n.212-1G>A
c.540-1G>A (n.540-1G>A)
c.450-1G>A (n.450-1G>A)
n.696-1G>A
 dbSNP ExAC gnomAD v2
13g.31269213G>CCA387720594B3GLCTc.597-1G>C (n.597-1G>C)
n.212-1G>C
c.540-1G>C (n.540-1G>C)
c.450-1G>C (n.450-1G>C)
n.696-1G>C
13g.31269213G=CA2082318182B3GLCTc.597-1G= (n.597-1G=)
n.212-1G=
c.540-1G= (n.540-1G=)
c.450-1G= (n.450-1G=)
n.696-1G=
13g.31269213G>TCA387720596B3GLCTc.597-1G>T (n.597-1G>T)
n.212-1G>T
c.540-1G>T (n.540-1G>T)
c.450-1G>T (n.450-1G>T)
n.696-1G>T
 gnomAD v4
13g.31269214G>ACA483257154B3GLCTc.597G>A (p.Lys199=)
n.212G>A
c.540G>A (p.Lys180=)
c.450G>A (p.Lys150=)
n.696G>A
13g.31269214G>CCA387720598B3GLCTc.597G>C (p.Lys199Asn)
n.212G>C
c.540G>C (p.Lys180Asn)
c.450G>C (p.Lys150Asn)
n.696G>C
13g.31269214G>TCA387720600B3GLCTc.597G>T (p.Lys199Asn)
n.212G>T
c.540G>T (p.Lys180Asn)
c.450G>T (p.Lys150Asn)
n.696G>T
13g.31269214_31269216dupCA2622574811B3GLCTc.597_599dup (p.Leu200_Thr201insLeu)
n.212_214dup
c.540_542dup (p.Leu181_Thr182insLeu)
c.450_452dup (p.Leu151_Thr152insLeu)
n.696_698dup
 gnomAD v4
13g.31269215C>ACA387720607B3GLCTc.598C>A (p.Leu200Ile)
n.213C>A
c.541C>A (p.Leu181Ile)
c.451C>A (p.Leu151Ile)
n.697C>A
 gnomAD v4
13g.31269215C=CA2082318185B3GLCTc.598C= (p.Leu200=)
n.213C=
c.541C= (p.Leu181=)
c.451C= (p.Leu151=)
n.697C=
13g.31269215C>GCA387720609B3GLCTc.598C>G (p.Leu200Val)
n.213C>G
c.541C>G (p.Leu181Val)
c.451C>G (p.Leu151Val)
n.697C>G
13g.31269215C>TCA247424015B3GLCTc.598C>T (p.Leu200Phe)
n.213C>T
c.541C>T (p.Leu181Phe)
c.451C>T (p.Leu151Phe)
n.697C>T
 dbSNP gnomAD v3 gnomAD v4
13g.31269216T>ACA387720616B3GLCTc.599T>A (p.Leu200His)
n.214T>A
c.542T>A (p.Leu181His)
c.452T>A (p.Leu151His)
n.698T>A
13g.31269216T>CCA387720615B3GLCTc.599T>C (p.Leu200Pro)
n.214T>C
c.542T>C (p.Leu181Pro)
c.452T>C (p.Leu151Pro)
n.698T>C
 dbSNP gnomAD v2 gnomAD v4
13g.31269216T>GCA387720613B3GLCTc.599T>G (p.Leu200Arg)
n.214T>G
c.542T>G (p.Leu181Arg)
c.452T>G (p.Leu151Arg)
n.698T>G
 dbSNP
13g.31269216T=CA2082318191B3GLCTc.599T= (p.Leu200=)
n.214T=
c.542T= (p.Leu181=)
c.452T= (p.Leu151=)
n.698T=
13g.31269217delCA2622574812B3GLCTc.600del (p.Thr201ProfsTer4)
n.215del
c.543del (p.Thr182ProfsTer4)
c.453del (p.Thr152ProfsTer4)
n.699del
 gnomAD v4
13g.31269217T>ACA483257157B3GLCTc.600T>A (p.Leu200=)
n.215T>A
c.543T>A (p.Leu181=)
c.453T>A (p.Leu151=)
n.699T>A
13g.31269217T>CCA483257158B3GLCTc.600T>C (p.Leu200=)
n.215T>C
c.543T>C (p.Leu181=)
c.453T>C (p.Leu151=)
n.699T>C
 gnomAD v4
13g.31269217T>GCA483257159B3GLCTc.600T>G (p.Leu200=)
n.215T>G
c.543T>G (p.Leu181=)
c.453T>G (p.Leu151=)
n.699T>G
13g.31269218A>CCA387720617B3GLCTc.601A>C (p.Thr201Pro)
n.216A>C
c.544A>C (p.Thr182Pro)
c.454A>C (p.Thr152Pro)
n.700A>C
13g.31269218A>GCA387720619B3GLCTc.601A>G (p.Thr201Ala)
n.216A>G
c.544A>G (p.Thr182Ala)
c.454A>G (p.Thr152Ala)
n.700A>G
13g.31269218A>TCA387720618B3GLCTc.601A>T (p.Thr201Ser)
n.216A>T
c.544A>T (p.Thr182Ser)
c.454A>T (p.Thr152Ser)
n.700A>T
13g.31269219C>ACA387720621B3GLCTc.602C>A (p.Thr201Asn)
n.217C>A
c.545C>A (p.Thr182Asn)
c.455C>A (p.Thr152Asn)
n.701C>A
 gnomAD v4
13g.31269219C>GCA387720622B3GLCTc.602C>G (p.Thr201Ser)
n.217C>G
c.545C>G (p.Thr182Ser)
c.455C>G (p.Thr152Ser)
n.701C>G
13g.31269219C>TCA387720623B3GLCTc.602C>T (p.Thr201Ile)
n.217C>T
c.545C>T (p.Thr182Ile)
c.455C>T (p.Thr152Ile)
n.701C>T
13g.31269220C>ACA483257160B3GLCTc.603C>A (p.Thr201=)
n.218C>A
c.546C>A (p.Thr182=)
c.456C>A (p.Thr152=)
n.702C>A
 gnomAD v4
13g.31269220C>GCA483257161B3GLCTc.603C>G (p.Thr201=)
n.218C>G
c.546C>G (p.Thr182=)
c.456C>G (p.Thr152=)
n.702C>G
13g.31269220C>TCA483257162B3GLCTc.603C>T (p.Thr201=)
n.218C>T
c.546C>T (p.Thr182=)
c.456C>T (p.Thr152=)
n.702C>T
 COSMIC
13g.31269221A>CCA387720624B3GLCTc.604A>C (p.Lys202Gln)
n.219A>C
c.547A>C (p.Lys183Gln)
c.457A>C (p.Lys153Gln)
n.703A>C
13g.31269221A>GCA387720626B3GLCTc.604A>G (p.Lys202Glu)
n.219A>G
c.547A>G (p.Lys183Glu)
c.457A>G (p.Lys153Glu)
n.703A>G
 gnomAD v4
13g.31269221A>TCA387720627B3GLCTc.604A>T (p.Lys202Ter)
n.219A>T
c.547A>T (p.Lys183Ter)
c.457A>T (p.Lys153Ter)
n.703A>T
13g.31269222A=CA2082318195B3GLCTc.605A= (p.Lys202=)
n.220A=
c.548A= (p.Lys183=)
c.458A= (p.Lys153=)
n.704A=
13g.31269222A>CCA387720629B3GLCTc.605A>C (p.Lys202Thr)
n.220A>C
c.548A>C (p.Lys183Thr)
c.458A>C (p.Lys153Thr)
n.704A>C
13g.31269222A>GCA387720631B3GLCTc.605A>G (p.Lys202Arg)
n.220A>G
c.548A>G (p.Lys183Arg)
c.458A>G (p.Lys153Arg)
n.704A>G
 dbSNP gnomAD v3 gnomAD v4
13g.31269222A>TCA387720633B3GLCTc.605A>T (p.Lys202Met)
n.220A>T
c.548A>T (p.Lys183Met)
c.458A>T (p.Lys153Met)
n.704A>T
13g.31269223G>ACA483257163B3GLCTc.606G>A (p.Lys202=)
n.221G>A
c.549G>A (p.Lys183=)
c.459G>A (p.Lys153=)
n.705G>A
 dbSNP gnomAD v3 gnomAD v4
13g.31269223G>CCA387720636B3GLCTc.606G>C (p.Lys202Asn)
n.221G>C
c.549G>C (p.Lys183Asn)
c.459G>C (p.Lys153Asn)
n.705G>C
13g.31269223G=CA2082318198B3GLCTc.606G= (p.Lys202=)
n.221G=
c.549G= (p.Lys183=)
c.459G= (p.Lys153=)
n.705G=
13g.31269223G>TCA387720639B3GLCTc.606G>T (p.Lys202Asn)
n.221G>T
c.549G>T (p.Lys183Asn)
c.459G>T (p.Lys153Asn)
n.705G>T
13g.31269224A>CCA483257164B3GLCTc.607A>C (p.Arg203=)
n.222A>C
c.550A>C (p.Arg184=)
c.460A>C (p.Arg154=)
n.706A>C
 gnomAD v4
13g.31269224A>GCA387720641B3GLCTc.607A>G (p.Arg203Gly)
n.222A>G
c.550A>G (p.Arg184Gly)
c.460A>G (p.Arg154Gly)
n.706A>G
13g.31269224A>TCA387720644B3GLCTc.607A>T (p.Arg203Ter)
n.222A>T
c.550A>T (p.Arg184Ter)
c.460A>T (p.Arg154Ter)
n.706A>T
13g.31269225G>ACA387720647B3GLCTc.608G>A (p.Arg203Lys)
n.223G>A
c.551G>A (p.Arg184Lys)
c.461G>A (p.Arg154Lys)
n.707G>A
13g.31269225G>CCA387720651B3GLCTc.608G>C (p.Arg203Thr)
n.223G>C
c.551G>C (p.Arg184Thr)
c.461G>C (p.Arg154Thr)
n.707G>C
13g.31269225G>TCA387720649B3GLCTc.608G>T (p.Arg203Ile)
n.223G>T
c.551G>T (p.Arg184Ile)
c.461G>T (p.Arg154Ile)
n.707G>T
 gnomAD v4
13g.31269226A>CCA387720654B3GLCTc.609A>C (p.Arg203Ser)
n.224A>C
c.552A>C (p.Arg184Ser)
c.462A>C (p.Arg154Ser)
n.708A>C
13g.31269226A>GCA483257167B3GLCTc.609A>G (p.Arg203=)
n.224A>G
c.552A>G (p.Arg184=)
c.462A>G (p.Arg154=)
n.708A>G
 gnomAD v4
13g.31269226A>TCA387720656B3GLCTc.609A>T (p.Arg203Ser)
n.224A>T
c.552A>T (p.Arg184Ser)
c.462A>T (p.Arg154Ser)
n.708A>T
13g.31269227C>ACA387720658B3GLCTc.610C>A (p.Leu204Ile)
n.225C>A
c.553C>A (p.Leu185Ile)
c.463C>A (p.Leu155Ile)
n.709C>A
13g.31269227C>GCA387720660B3GLCTc.610C>G (p.Leu204Val)
n.225C>G
c.553C>G (p.Leu185Val)
c.463C>G (p.Leu155Val)
n.709C>G
13g.31269227C>TCA483257168B3GLCTc.610C>T (p.Leu204=)
n.225C>T
c.553C>T (p.Leu185=)
c.463C>T (p.Leu155=)
n.709C>T
13g.31269228T>ACA387720663B3GLCTc.611T>A (p.Leu204Gln)
n.226T>A
c.554T>A (p.Leu185Gln)
c.464T>A (p.Leu155Gln)
n.710T>A
13g.31269228T>CCA387720665B3GLCTc.611T>C (p.Leu204Pro)
n.226T>C
c.554T>C (p.Leu185Pro)
c.464T>C (p.Leu155Pro)
n.710T>C
 gnomAD v4
13g.31269228T>GCA387720668B3GLCTc.611T>G (p.Leu204Arg)
n.226T>G
c.554T>G (p.Leu185Arg)
c.464T>G (p.Leu155Arg)
n.710T>G
 gnomAD v4
13g.31269228_31269230delinsTAACA2082318200B3GLCTc.611_613delinsTAA (p.Leu204=)
n.226_228delinsTAA
c.554_556delinsTAA (p.Leu185=)
c.464_466delinsTAA (p.Leu155=)
n.710_712delinsTAA
13g.31269229A=CA2082318206B3GLCTc.612A= (p.Leu204=)
n.227A=
c.555A= (p.Leu185=)
c.465A= (p.Leu155=)
n.711A=
13g.31269229A>CCA483257172B3GLCTc.612A>C (p.Leu204=)
n.227A>C
c.555A>C (p.Leu185=)
c.465A>C (p.Leu155=)
n.711A>C
13g.31269229A>GCA6936664B3GLCTc.612A>G (p.Leu204=)
n.227A>G
c.555A>G (p.Leu185=)
c.465A>G (p.Leu155=)
n.711A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.31269229A>TCA483257173B3GLCTc.612A>T (p.Leu204=)
n.227A>T
c.555A>T (p.Leu185=)
c.465A>T (p.Leu155=)
n.711A>T
13g.31269230_31269231delCA6936663B3GLCTc.613_614del (p.Lys205GlufsTer2)
n.228_229del
c.556_557del (p.Lys186GlufsTer2)
c.466_467del (p.Lys156GlufsTer2)
n.712_713del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269230A>CCA387720678B3GLCTc.613A>C (p.Lys205Gln)
n.228A>C
c.556A>C (p.Lys186Gln)
c.466A>C (p.Lys156Gln)
n.712A>C
13g.31269230A>GCA387720680B3GLCTc.613A>G (p.Lys205Glu)
n.228A>G
c.556A>G (p.Lys186Glu)
c.466A>G (p.Lys156Glu)
n.712A>G
13g.31269230A>TCA387720676B3GLCTc.613A>T (p.Lys205Ter)
n.228A>T
c.556A>T (p.Lys186Ter)
c.466A>T (p.Lys156Ter)
n.712A>T
 gnomAD v4
13g.31269231A>CCA387720683B3GLCTc.614A>C (p.Lys205Thr)
n.229A>C
c.557A>C (p.Lys186Thr)
c.467A>C (p.Lys156Thr)
n.713A>C
13g.31269231A>GCA387720684B3GLCTc.614A>G (p.Lys205Arg)
n.229A>G
c.557A>G (p.Lys186Arg)
c.467A>G (p.Lys156Arg)
n.713A>G
13g.31269231A>TCA387720686B3GLCTc.614A>T (p.Lys205Met)
n.229A>T
c.557A>T (p.Lys186Met)
c.467A>T (p.Lys156Met)
n.713A>T
13g.31269232G>ACA483257175B3GLCTc.615G>A (p.Lys205=)
n.230G>A
c.558G>A (p.Lys186=)
c.468G>A (p.Lys156=)
n.714G>A
13g.31269232G>CCA387720689B3GLCTc.615G>C (p.Lys205Asn)
n.230G>C
c.558G>C (p.Lys186Asn)
c.468G>C (p.Lys156Asn)
n.714G>C
13g.31269232G>TCA387720691B3GLCTc.615G>T (p.Lys205Asn)
n.230G>T
c.558G>T (p.Lys186Asn)
c.468G>T (p.Lys156Asn)
n.714G>T
13g.31269233A=CA2082318210B3GLCTc.616A= (p.Ser206=)
n.231A=
c.559A= (p.Ser187=)
c.469A= (p.Ser157=)
n.715A=
13g.31269233A>CCA387720697B3GLCTc.616A>C (p.Ser206Arg)
n.231A>C
c.559A>C (p.Ser187Arg)
c.469A>C (p.Ser157Arg)
n.715A>C
 dbSNP gnomAD v2
13g.31269233A>GCA387720693B3GLCTc.616A>G (p.Ser206Gly)
n.231A>G
c.559A>G (p.Ser187Gly)
c.469A>G (p.Ser157Gly)
n.715A>G
13g.31269233A>TCA387720695B3GLCTc.616A>T (p.Ser206Cys)
n.231A>T
c.559A>T (p.Ser187Cys)
c.469A>T (p.Ser157Cys)
n.715A>T
13g.31269234G>ACA387720698B3GLCTc.617G>A (p.Ser206Asn)
n.232G>A
c.560G>A (p.Ser187Asn)
c.470G>A (p.Ser157Asn)
n.716G>A
13g.31269234G>CCA387720701B3GLCTc.617G>C (p.Ser206Thr)
n.232G>C
c.560G>C (p.Ser187Thr)
c.470G>C (p.Ser157Thr)
n.716G>C
13g.31269234G>TCA387720704B3GLCTc.617G>T (p.Ser206Ile)
n.232G>T
c.560G>T (p.Ser187Ile)
c.470G>T (p.Ser157Ile)
n.716G>T
13g.31269235T>ACA387720710B3GLCTc.618T>A (p.Ser206Arg)
n.233T>A
c.561T>A (p.Ser187Arg)
c.471T>A (p.Ser157Arg)
n.717T>A
13g.31269235T>CCA483257179B3GLCTc.618T>C (p.Ser206=)
n.233T>C
c.561T>C (p.Ser187=)
c.471T>C (p.Ser157=)
n.717T>C
 dbSNP gnomAD v2 gnomAD v4
13g.31269235T>GCA387720713B3GLCTc.618T>G (p.Ser206Arg)
n.233T>G
c.561T>G (p.Ser187Arg)
c.471T>G (p.Ser157Arg)
n.717T>G
13g.31269235T=CA2082318215B3GLCTc.618T= (p.Ser206=)
n.233T=
c.561T= (p.Ser187=)
c.471T= (p.Ser157=)
n.717T=
13g.31269236G>ACA387720718B3GLCTc.619G>A (p.Glu207Lys)
n.234G>A
c.562G>A (p.Glu188Lys)
c.472G>A (p.Glu158Lys)
n.718G>A
13g.31269236G>CCA387720722B3GLCTc.619G>C (p.Glu207Gln)
n.234G>C
c.562G>C (p.Glu188Gln)
c.472G>C (p.Glu158Gln)
n.718G>C
13g.31269236G>TCA387720720B3GLCTc.619G>T (p.Glu207Ter)
n.234G>T
c.562G>T (p.Glu188Ter)
c.472G>T (p.Glu158Ter)
n.718G>T
 gnomAD v4
13g.31269237A>CCA387720725B3GLCTc.620A>C (p.Glu207Ala)
n.235A>C
c.563A>C (p.Glu188Ala)
c.473A>C (p.Glu158Ala)
n.719A>C
13g.31269237A>GCA387720727B3GLCTc.620A>G (p.Glu207Gly)
n.235A>G
c.563A>G (p.Glu188Gly)
c.473A>G (p.Glu158Gly)
n.719A>G
13g.31269237A>TCA387720729B3GLCTc.620A>T (p.Glu207Val)
n.235A>T
c.563A>T (p.Glu188Val)
c.473A>T (p.Glu158Val)
n.719A>T
13g.31269238A>CCA387720732B3GLCTc.621A>C (p.Glu207Asp)
n.236A>C
c.564A>C (p.Glu188Asp)
c.474A>C (p.Glu158Asp)
n.720A>C
 gnomAD v4
13g.31269238A>GCA483257183B3GLCTc.621A>G (p.Glu207=)
n.236A>G
c.564A>G (p.Glu188=)
c.474A>G (p.Glu158=)
n.720A>G
13g.31269238A>TCA387720735B3GLCTc.621A>T (p.Glu207Asp)
n.236A>T
c.564A>T (p.Glu188Asp)
c.474A>T (p.Glu158Asp)
n.720A>T
 ClinVar gnomAD v4
13g.31269239T>ACA387720736B3GLCTc.622T>A (p.Ser208Thr)
n.237T>A
c.565T>A (p.Ser189Thr)
c.475T>A (p.Ser159Thr)
n.721T>A
13g.31269239T>CCA387720737B3GLCTc.622T>C (p.Ser208Pro)
n.237T>C
c.565T>C (p.Ser189Pro)
c.475T>C (p.Ser159Pro)
n.721T>C
13g.31269239T>GCA387720738B3GLCTc.622T>G (p.Ser208Ala)
n.237T>G
c.565T>G (p.Ser189Ala)
c.475T>G (p.Ser159Ala)
n.721T>G
13g.31269240C>ACA387720739B3GLCTc.623C>A (p.Ser208Tyr)
n.238C>A
c.566C>A (p.Ser189Tyr)
c.476C>A (p.Ser159Tyr)
n.722C>A
 gnomAD v4
13g.31269240C>GCA387720741B3GLCTc.623C>G (p.Ser208Cys)
n.238C>G
c.566C>G (p.Ser189Cys)
c.476C>G (p.Ser159Cys)
n.722C>G
13g.31269240C>TCA387720743B3GLCTc.623C>T (p.Ser208Phe)
n.238C>T
c.566C>T (p.Ser189Phe)
c.476C>T (p.Ser159Phe)
n.722C>T
 gnomAD v4
13g.31269241C>ACA483257185B3GLCTc.624C>A (p.Ser208=)
n.239C>A
c.567C>A (p.Ser189=)
c.477C>A (p.Ser159=)
n.723C>A
13g.31269241C=CA2082318218B3GLCTc.624C= (p.Ser208=)
n.239C=
c.567C= (p.Ser189=)
c.477C= (p.Ser159=)
n.723C=
13g.31269241C>GCA6936665B3GLCTc.624C>G (p.Ser208=)
n.239C>G
c.567C>G (p.Ser189=)
c.477C>G (p.Ser159=)
n.723C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269241C>TCA483257186B3GLCTc.624C>T (p.Ser208=)
n.239C>T
c.567C>T (p.Ser189=)
c.477C>T (p.Ser159=)
n.723C>T
13g.31269242T>ACA387720747B3GLCTc.625T>A (p.Leu209Met)
n.240T>A
c.568T>A (p.Leu190Met)
c.478T>A (p.Leu160Met)
n.724T>A
13g.31269242T>CCA483257187B3GLCTc.625T>C (p.Leu209=)
n.240T>C
c.568T>C (p.Leu190=)
c.478T>C (p.Leu160=)
n.724T>C
13g.31269242T>GCA387720749B3GLCTc.625T>G (p.Leu209Val)
n.240T>G
c.568T>G (p.Leu190Val)
c.478T>G (p.Leu160Val)
n.724T>G
13g.31269243T>ACA387720751B3GLCTc.626T>A (p.Leu209Ter)
n.241T>A
c.569T>A (p.Leu190Ter)
c.479T>A (p.Leu160Ter)
n.725T>A
13g.31269243T>CCA387720756B3GLCTc.626T>C (p.Leu209Ser)
n.241T>C
c.569T>C (p.Leu190Ser)
c.479T>C (p.Leu160Ser)
n.725T>C
13g.31269243T>GCA387720753B3GLCTc.626T>G (p.Leu209Trp)
n.241T>G
c.569T>G (p.Leu190Trp)
c.479T>G (p.Leu160Trp)
n.725T>G
13g.31269244G>ACA483257189B3GLCTc.627G>A (p.Leu209=)
n.242G>A
c.570G>A (p.Leu190=)
c.480G>A (p.Leu160=)
n.726G>A
 gnomAD v4
13g.31269244G>CCA387720758B3GLCTc.627G>C (p.Leu209Phe)
n.242G>C
c.570G>C (p.Leu190Phe)
c.480G>C (p.Leu160Phe)
n.726G>C
13g.31269244G>TCA387720761B3GLCTc.627G>T (p.Leu209Phe)
n.242G>T
c.570G>T (p.Leu190Phe)
c.480G>T (p.Leu160Phe)
n.726G>T
 gnomAD v4
13g.31269245A>CCA387720764B3GLCTc.628A>C (p.Lys210Gln)
n.243A>C
c.571A>C (p.Lys191Gln)
c.481A>C (p.Lys161Gln)
n.727A>C
 gnomAD v4
13g.31269245A>GCA387720767B3GLCTc.628A>G (p.Lys210Glu)
n.243A>G
c.571A>G (p.Lys191Glu)
c.481A>G (p.Lys161Glu)
n.727A>G
13g.31269245A>TCA387720770B3GLCTc.628A>T (p.Lys210Ter)
n.243A>T
c.571A>T (p.Lys191Ter)
c.481A>T (p.Lys161Ter)
n.727A>T
13g.31269246A>CCA387720772B3GLCTc.629A>C (p.Lys210Thr)
n.244A>C
c.572A>C (p.Lys191Thr)
c.482A>C (p.Lys161Thr)
n.728A>C
13g.31269246A>GCA387720773B3GLCTc.629A>G (p.Lys210Arg)
n.244A>G
c.572A>G (p.Lys191Arg)
c.482A>G (p.Lys161Arg)
n.728A>G
13g.31269246A>TCA387720774B3GLCTc.629A>T (p.Lys210Ile)
n.244A>T
c.572A>T (p.Lys191Ile)
c.482A>T (p.Lys161Ile)
n.728A>T
13g.31269247A>CCA387720776B3GLCTc.630A>C (p.Lys210Asn)
n.245A>C
c.573A>C (p.Lys191Asn)
c.483A>C (p.Lys161Asn)
n.729A>C
13g.31269247A>GCA483257191B3GLCTc.630A>G (p.Lys210=)
n.245A>G
c.573A>G (p.Lys191=)
c.483A>G (p.Lys161=)
n.729A>G
13g.31269247A>TCA387720777B3GLCTc.630A>T (p.Lys210Asn)
n.245A>T
c.573A>T (p.Lys191Asn)
c.483A>T (p.Lys161Asn)
n.729A>T
13g.31269248T>ACA387720780B3GLCTc.631T>A (p.Ser211Thr)
n.246T>A
c.574T>A (p.Ser192Thr)
c.484T>A (p.Ser162Thr)
n.730T>A
13g.31269248T>CCA387720783B3GLCTc.631T>C (p.Ser211Pro)
n.246T>C
c.574T>C (p.Ser192Pro)
c.484T>C (p.Ser162Pro)
n.730T>C
13g.31269248T>GCA387720784B3GLCTc.631T>G (p.Ser211Ala)
n.246T>G
c.574T>G (p.Ser192Ala)
c.484T>G (p.Ser162Ala)
n.730T>G
13g.31269249C>ACA387720789B3GLCTc.632C>A (p.Ser211Tyr)
n.247C>A
c.575C>A (p.Ser192Tyr)
c.485C>A (p.Ser162Tyr)
n.731C>A
13g.31269249C=CA2082318220B3GLCTc.632C= (p.Ser211=)
n.247C=
c.575C= (p.Ser192=)
c.485C= (p.Ser162=)
n.731C=
13g.31269249C>GCA387720786B3GLCTc.632C>G (p.Ser211Cys)
n.247C>G
c.575C>G (p.Ser192Cys)
c.485C>G (p.Ser162Cys)
n.731C>G
13g.31269249C>TCA387720787B3GLCTc.632C>T (p.Ser211Phe)
n.247C>T
c.575C>T (p.Ser192Phe)
c.485C>T (p.Ser162Phe)
n.731C>T
 dbSNP
13g.31269250C>ACA483257195B3GLCTc.633C>A (p.Ser211=)
n.248C>A
c.576C>A (p.Ser192=)
c.486C>A (p.Ser162=)
n.732C>A
 dbSNP gnomAD v2 gnomAD v4
13g.31269250C=CA2082318224B3GLCTc.633C= (p.Ser211=)
n.248C=
c.576C= (p.Ser192=)
c.486C= (p.Ser162=)
n.732C=
13g.31269250C>GCA483257196B3GLCTc.633C>G (p.Ser211=)
n.248C>G
c.576C>G (p.Ser192=)
c.486C>G (p.Ser162=)
n.732C>G
13g.31269250C>TCA247424023B3GLCTc.633C>T (p.Ser211=)
n.248C>T
c.576C>T (p.Ser192=)
c.486C>T (p.Ser162=)
n.732C>T
 dbSNP gnomAD v3 gnomAD v4
13g.31269251G>ACA387720793B3GLCTc.634G>A (p.Asp212Asn)
n.249G>A
c.577G>A (p.Asp193Asn)
c.487G>A (p.Asp163Asn)
n.733G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.31269251G>CCA387720795B3GLCTc.634G>C (p.Asp212His)
n.249G>C
c.577G>C (p.Asp193His)
c.487G>C (p.Asp163His)
n.733G>C
13g.31269251G=CA2082318227B3GLCTc.634G= (p.Asp212=)
n.249G=
c.577G= (p.Asp193=)
c.487G= (p.Asp163=)
n.733G=
13g.31269251G>TCA387720797B3GLCTc.634G>T (p.Asp212Tyr)
n.249G>T
c.577G>T (p.Asp193Tyr)
c.487G>T (p.Asp163Tyr)
n.733G>T
13g.31269252A>CCA387720800B3GLCTc.635A>C (p.Asp212Ala)
n.250A>C
c.578A>C (p.Asp193Ala)
c.488A>C (p.Asp163Ala)
n.734A>C
13g.31269252A>GCA387720801B3GLCTc.635A>G (p.Asp212Gly)
n.250A>G
c.578A>G (p.Asp193Gly)
c.488A>G (p.Asp163Gly)
n.734A>G
13g.31269252A>TCA387720803B3GLCTc.635A>T (p.Asp212Val)
n.250A>T
c.578A>T (p.Asp193Val)
c.488A>T (p.Asp163Val)
n.734A>T
13g.31269253C>ACA387720806B3GLCTc.636C>A (p.Asp212Glu)
n.251C>A
c.579C>A (p.Asp193Glu)
c.489C>A (p.Asp163Glu)
n.735C>A
 gnomAD v4
13g.31269253C>GCA387720808B3GLCTc.636C>G (p.Asp212Glu)
n.251C>G
c.579C>G (p.Asp193Glu)
c.489C>G (p.Asp163Glu)
n.735C>G
13g.31269253C>TCA483257197B3GLCTc.636C>T (p.Asp212=)
n.251C>T
c.579C>T (p.Asp193=)
c.489C>T (p.Asp163=)
n.735C>T
13g.31269254T>ACA387720811B3GLCTc.637T>A (p.Phe213Ile)
n.252T>A
c.580T>A (p.Phe194Ile)
c.490T>A (p.Phe164Ile)
n.736T>A
13g.31269254T>CCA387720814B3GLCTc.637T>C (p.Phe213Leu)
n.252T>C
c.580T>C (p.Phe194Leu)
c.490T>C (p.Phe164Leu)
n.736T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.31269254T>GCA387720817B3GLCTc.637T>G (p.Phe213Val)
n.252T>G
c.580T>G (p.Phe194Val)
c.490T>G (p.Phe164Val)
n.736T>G
13g.31269254T=CA2082318231B3GLCTc.637T= (p.Phe213=)
n.252T=
c.580T= (p.Phe194=)
c.490T= (p.Phe164=)
n.736T=
13g.31269255T>ACA387720819B3GLCTc.638T>A (p.Phe213Tyr)
n.253T>A
c.581T>A (p.Phe194Tyr)
c.491T>A (p.Phe164Tyr)
n.737T>A
13g.31269255T>CCA387720824B3GLCTc.638T>C (p.Phe213Ser)
n.253T>C
c.581T>C (p.Phe194Ser)
c.491T>C (p.Phe164Ser)
n.737T>C
13g.31269255T>GCA387720822B3GLCTc.638T>G (p.Phe213Cys)
n.253T>G
c.581T>G (p.Phe194Cys)
c.491T>G (p.Phe164Cys)
n.737T>G
 gnomAD v4
13g.31269256T>ACA387720826B3GLCTc.639T>A (p.Phe213Leu)
n.254T>A
c.582T>A (p.Phe194Leu)
c.492T>A (p.Phe164Leu)
n.738T>A
13g.31269256T>CCA6936666B3GLCTc.639T>C (p.Phe213=)
n.254T>C
c.582T>C (p.Phe194=)
c.492T>C (p.Phe164=)
n.738T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269256T>GCA387720831B3GLCTc.639T>G (p.Phe213Leu)
n.254T>G
c.582T>G (p.Phe194Leu)
c.492T>G (p.Phe164Leu)
n.738T>G
13g.31269256T=CA2082318235B3GLCTc.639T= (p.Phe213=)
n.254T=
c.582T= (p.Phe194=)
c.492T= (p.Phe164=)
n.738T=
13g.31269257A>CCA387720834B3GLCTc.640A>C (p.Thr214Pro)
n.255A>C
c.583A>C (p.Thr195Pro)
c.493A>C (p.Thr165Pro)
n.739A>C
13g.31269257A>GCA387720836B3GLCTc.640A>G (p.Thr214Ala)
n.255A>G
c.583A>G (p.Thr195Ala)
c.493A>G (p.Thr165Ala)
n.739A>G
 gnomAD v4
13g.31269257A>TCA387720837B3GLCTc.640A>T (p.Thr214Ser)
n.255A>T
c.583A>T (p.Thr195Ser)
c.493A>T (p.Thr165Ser)
n.739A>T
13g.31269258C>ACA387720840B3GLCTc.641C>A (p.Thr214Lys)
n.256C>A
c.584C>A (p.Thr195Lys)
c.494C>A (p.Thr165Lys)
n.740C>A
13g.31269258C=CA2082318238B3GLCTc.641C= (p.Thr214=)
n.256C=
c.584C= (p.Thr195=)
c.494C= (p.Thr165=)
n.740C=
13g.31269258C>GCA387720843B3GLCTc.641C>G (p.Thr214Arg)
n.256C>G
c.584C>G (p.Thr195Arg)
c.494C>G (p.Thr165Arg)
n.740C>G
13g.31269258C>TCA387720846B3GLCTc.641C>T (p.Thr214Ile)
n.256C>T
c.584C>T (p.Thr195Ile)
c.494C>T (p.Thr165Ile)
n.740C>T
 dbSNP
13g.31269259A=CA2082318241B3GLCTc.642A= (p.Thr214=)
n.257A=
c.585A= (p.Thr195=)
c.495A= (p.Thr165=)
n.741A=
13g.31269259A>CCA483257203B3GLCTc.642A>C (p.Thr214=)
n.257A>C
c.585A>C (p.Thr195=)
c.495A>C (p.Thr165=)
n.741A>C
13g.31269259A>GCA483257204B3GLCTc.642A>G (p.Thr214=)
n.257A>G
c.585A>G (p.Thr195=)
c.495A>G (p.Thr165=)
n.741A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.31269259A>TCA483257205B3GLCTc.642A>T (p.Thr214=)
n.257A>T
c.585A>T (p.Thr195=)
c.495A>T (p.Thr165=)
n.741A>T
13g.31269260A=CA2082318247B3GLCTc.643A= (p.Ile215=)
n.258A=
c.586A= (p.Ile196=)
c.496A= (p.Ile166=)
n.742A=
13g.31269260A>CCA387720847B3GLCTc.643A>C (p.Ile215Leu)
n.258A>C
c.586A>C (p.Ile196Leu)
c.496A>C (p.Ile166Leu)
n.742A>C
13g.31269260A>GCA6936667B3GLCTc.643A>G (p.Ile215Val)
n.258A>G
c.586A>G (p.Ile196Val)
c.496A>G (p.Ile166Val)
n.742A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269260A>TCA387720850B3GLCTc.643A>T (p.Ile215Leu)
n.258A>T
c.586A>T (p.Ile196Leu)
c.496A>T (p.Ile166Leu)
n.742A>T
13g.31269261T>ACA387720860B3GLCTc.644T>A (p.Ile215Lys)
n.259T>A
c.587T>A (p.Ile196Lys)
c.497T>A (p.Ile166Lys)
n.743T>A
13g.31269261T>CCA387720856B3GLCTc.644T>C (p.Ile215Thr)
n.259T>C
c.587T>C (p.Ile196Thr)
c.497T>C (p.Ile166Thr)
n.743T>C
 dbSNP gnomAD v2 gnomAD v4
13g.31269261T>GCA387720858B3GLCTc.644T>G (p.Ile215Arg)
n.259T>G
c.587T>G (p.Ile196Arg)
c.497T>G (p.Ile166Arg)
n.743T>G
13g.31269261T=CA2082318252B3GLCTc.644T= (p.Ile215=)
n.259T=
c.587T= (p.Ile196=)
c.497T= (p.Ile166=)
n.743T=
13g.31269262A=CA2082318259B3GLCTc.645A= (p.Ile215=)
n.260A=
c.588A= (p.Ile196=)
c.498A= (p.Ile166=)
n.744A=
13g.31269262A>CCA483257207B3GLCTc.645A>C (p.Ile215=)
n.260A>C
c.588A>C (p.Ile196=)
c.498A>C (p.Ile166=)
n.744A>C
13g.31269262A>GCA247424053B3GLCTc.645A>G (p.Ile215Met)
n.260A>G
c.588A>G (p.Ile196Met)
c.498A>G (p.Ile166Met)
n.744A>G
 dbSNP gnomAD v4
13g.31269262A>TCA483257208B3GLCTc.645A>T (p.Ile215=)
n.260A>T
c.588A>T (p.Ile196=)
c.498A>T (p.Ile166=)
n.744A>T
13g.31269263G>ACA387720865B3GLCTc.646G>A (p.Asp216Asn)
n.261G>A
c.589G>A (p.Asp197Asn)
c.499G>A (p.Asp167Asn)
n.745G>A
13g.31269263G>CCA387720866B3GLCTc.646G>C (p.Asp216His)
n.261G>C
c.589G>C (p.Asp197His)
c.499G>C (p.Asp167His)
n.745G>C
13g.31269263G>TCA387720868B3GLCTc.646G>T (p.Asp216Tyr)
n.261G>T
c.589G>T (p.Asp197Tyr)
c.499G>T (p.Asp167Tyr)
n.745G>T
13g.31269264A>CCA387720870B3GLCTc.647A>C (p.Asp216Ala)
n.262A>C
c.590A>C (p.Asp197Ala)
c.500A>C (p.Asp167Ala)
n.746A>C
13g.31269264A>GCA387720872B3GLCTc.647A>G (p.Asp216Gly)
n.262A>G
c.590A>G (p.Asp197Gly)
c.500A>G (p.Asp167Gly)
n.746A>G
13g.31269264A>TCA387720873B3GLCTc.647A>T (p.Asp216Val)
n.262A>T
c.590A>T (p.Asp197Val)
c.500A>T (p.Asp167Val)
n.746A>T
13g.31269265T>ACA387720875B3GLCTc.648T>A (p.Asp216Glu)
n.263T>A
c.591T>A (p.Asp197Glu)
c.501T>A (p.Asp167Glu)
n.747T>A
13g.31269265T>CCA483257210B3GLCTc.648T>C (p.Asp216=)
n.263T>C
c.591T>C (p.Asp197=)
c.501T>C (p.Asp167=)
n.747T>C
13g.31269265T>GCA387720876B3GLCTc.648T>G (p.Asp216Glu)
n.263T>G
c.591T>G (p.Asp197Glu)
c.501T>G (p.Asp167Glu)
n.747T>G
13g.31269266T>ACA387720878B3GLCTc.649T>A (p.Leu217Ile)
n.264T>A
c.592T>A (p.Leu198Ile)
c.502T>A (p.Leu168Ile)
n.748T>A
 dbSNP gnomAD v3 gnomAD v4
13g.31269266T>CCA483257211B3GLCTc.649T>C (p.Leu217=)
n.264T>C
c.592T>C (p.Leu198=)
c.502T>C (p.Leu168=)
n.748T>C
13g.31269266T>GCA387720879B3GLCTc.649T>G (p.Leu217Val)
n.264T>G
c.592T>G (p.Leu198Val)
c.502T>G (p.Leu168Val)
n.748T>G
13g.31269266T=CA2082318265B3GLCTc.649T= (p.Leu217=)
n.264T=
c.592T= (p.Leu198=)
c.502T= (p.Leu168=)
n.748T=
13g.31269267T>ACA387720883B3GLCTc.650T>A (p.Leu217Ter)
n.265T>A
c.593T>A (p.Leu198Ter)
c.503T>A (p.Leu168Ter)
n.749T>A
13g.31269267T>CCA387720885B3GLCTc.650T>C (p.Leu217Ser)
n.265T>C
c.593T>C (p.Leu198Ser)
c.503T>C (p.Leu168Ser)
n.749T>C
13g.31269267T>GCA387720881B3GLCTc.650T>G (p.Leu217Ter)
n.265T>G
c.593T>G (p.Leu198Ter)
c.503T>G (p.Leu168Ter)
n.749T>G
 dbSNP gnomAD v4
13g.31269267T=CA2082318267B3GLCTc.650T= (p.Leu217=)
n.265T=
c.593T= (p.Leu198=)
c.503T= (p.Leu168=)
n.749T=
13g.31269268A>CCA387720888B3GLCTc.651A>C (p.Leu217Phe)
n.266A>C
c.594A>C (p.Leu198Phe)
c.504A>C (p.Leu168Phe)
n.750A>C
13g.31269268A>GCA483257214B3GLCTc.651A>G (p.Leu217=)
n.266A>G
c.594A>G (p.Leu198=)
c.504A>G (p.Leu168=)
n.750A>G
13g.31269268A>TCA387720886B3GLCTc.651A>T (p.Leu217Phe)
n.266A>T
c.594A>T (p.Leu198Phe)
c.504A>T (p.Leu168Phe)
n.750A>T
13g.31269269A>CCA387720890B3GLCTc.652A>C (p.Lys218Gln)
n.267A>C
c.595A>C (p.Lys199Gln)
c.505A>C (p.Lys169Gln)
n.751A>C
13g.31269269A>GCA387720891B3GLCTc.652A>G (p.Lys218Glu)
n.267A>G
c.595A>G (p.Lys199Glu)
c.505A>G (p.Lys169Glu)
n.751A>G
13g.31269269A>TCA387720893B3GLCTc.652A>T (p.Lys218Ter)
n.267A>T
c.595A>T (p.Lys199Ter)
c.505A>T (p.Lys169Ter)
n.751A>T
13g.31269270A>CCA387720895B3GLCTc.653A>C (p.Lys218Thr)
n.268A>C
c.596A>C (p.Lys199Thr)
c.506A>C (p.Lys169Thr)
n.752A>C
13g.31269270A>GCA387720896B3GLCTc.653A>G (p.Lys218Arg)
n.268A>G
c.596A>G (p.Lys199Arg)
c.506A>G (p.Lys169Arg)
n.752A>G
13g.31269270A>TCA387720898B3GLCTc.653A>T (p.Lys218Ile)
n.268A>T
c.596A>T (p.Lys199Ile)
c.506A>T (p.Lys169Ile)
n.752A>T
13g.31269271A>CCA387720899B3GLCTc.654A>C (p.Lys218Asn)
n.269A>C
c.597A>C (p.Lys199Asn)
c.507A>C (p.Lys169Asn)
n.753A>C
13g.31269271A>GCA483257218B3GLCTc.654A>G (p.Lys218=)
n.269A>G
c.597A>G (p.Lys199=)
c.507A>G (p.Lys169=)
n.753A>G
13g.31269271A>TCA387720901B3GLCTc.654A>T (p.Lys218Asn)
n.269A>T
c.597A>T (p.Lys199Asn)
c.507A>T (p.Lys169Asn)
n.753A>T
13g.31269272C>ACA387720903B3GLCTc.655C>A (p.His219Asn)
n.270C>A
c.598C>A (p.His200Asn)
c.508C>A (p.His170Asn)
n.754C>A
 gnomAD v4
13g.31269272C>GCA387720905B3GLCTc.655C>G (p.His219Asp)
n.270C>G
c.598C>G (p.His200Asp)
c.508C>G (p.His170Asp)
n.754C>G
13g.31269272C>TCA387720906B3GLCTc.655C>T (p.His219Tyr)
n.270C>T
c.598C>T (p.His200Tyr)
c.508C>T (p.His170Tyr)
n.754C>T
13g.31269273A>CCA387720910B3GLCTc.656A>C (p.His219Pro)
n.271A>C
c.599A>C (p.His200Pro)
c.509A>C (p.His170Pro)
n.755A>C
13g.31269273A>GCA387720911B3GLCTc.656A>G (p.His219Arg)
n.271A>G
c.599A>G (p.His200Arg)
c.509A>G (p.His170Arg)
n.755A>G
13g.31269273A>TCA387720908B3GLCTc.656A>T (p.His219Leu)
n.271A>T
c.599A>T (p.His200Leu)
c.509A>T (p.His170Leu)
n.755A>T
13g.31269274T>ACA387720913B3GLCTc.657T>A (p.His219Gln)
n.272T>A
c.600T>A (p.His200Gln)
c.510T>A (p.His170Gln)
n.756T>A
13g.31269274T>CCA483257219B3GLCTc.657T>C (p.His219=)
n.272T>C
c.600T>C (p.His200=)
c.510T>C (p.His170=)
n.756T>C
 gnomAD v4
13g.31269274T>GCA387720914B3GLCTc.657T>G (p.His219Gln)
n.272T>G
c.600T>G (p.His200Gln)
c.510T>G (p.His170Gln)
n.756T>G
 gnomAD v4
13g.31269275G>ACA387720916B3GLCTc.658G>A (p.Glu220Lys)
n.273G>A
c.601G>A (p.Glu201Lys)
c.511G>A (p.Glu171Lys)
n.757G>A
 gnomAD v4
13g.31269275G>CCA387720917B3GLCTc.658G>C (p.Glu220Gln)
n.273G>C
c.601G>C (p.Glu201Gln)
c.511G>C (p.Glu171Gln)
n.757G>C
13g.31269275G>TCA387720918B3GLCTc.658G>T (p.Glu220Ter)
n.273G>T
c.601G>T (p.Glu201Ter)
c.511G>T (p.Glu171Ter)
n.757G>T
 gnomAD v4 COSMIC
13g.31269276A=CA2082318272B3GLCTc.659A= (p.Glu220=)
n.274A=
c.602A= (p.Glu201=)
c.512A= (p.Glu171=)
n.758A=
13g.31269276A>CCA387720923B3GLCTc.659A>C (p.Glu220Ala)
n.274A>C
c.602A>C (p.Glu201Ala)
c.512A>C (p.Glu171Ala)
n.758A>C
13g.31269276A>GCA387720920B3GLCTc.659A>G (p.Glu220Gly)
n.274A>G
c.602A>G (p.Glu201Gly)
c.512A>G (p.Glu171Gly)
n.758A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.31269276A>TCA247424058B3GLCTc.659A>T (p.Glu220Val)
n.274A>T
c.602A>T (p.Glu201Val)
c.512A>T (p.Glu171Val)
n.758A>T
 dbSNP
13g.31269277G>ACA483257221B3GLCTc.660G>A (p.Glu220=)
n.275G>A
c.603G>A (p.Glu201=)
c.513G>A (p.Glu171=)
n.759G>A
13g.31269277G>CCA387720924B3GLCTc.660G>C (p.Glu220Asp)
n.275G>C
c.603G>C (p.Glu201Asp)
c.513G>C (p.Glu171Asp)
n.759G>C
 gnomAD v4
13g.31269277G>TCA387720925B3GLCTc.660G>T (p.Glu220Asp)
n.275G>T
c.603G>T (p.Glu201Asp)
c.513G>T (p.Glu171Asp)
n.759G>T
13g.31269278G>ACA224368B3GLCTc.660+1G>A (n.660+1G>A)
n.275+1G>A
c.603+1G>A (n.603+1G>A)
c.513+1G>A (n.513+1G>A)
n.759+1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.31269278G>CCA387720928B3GLCTc.660+1G>C (n.660+1G>C)
n.275+1G>C
c.603+1G>C (n.603+1G>C)
c.513+1G>C (n.513+1G>C)
n.759+1G>C
13g.31269278G=CA2082318278B3GLCTc.660+1G= (n.660+1G=)
n.275+1G=
c.603+1G= (n.603+1G=)
c.513+1G= (n.513+1G=)
n.759+1G=
13g.31269278G>TCA387720930B3GLCTc.660+1G>T (n.660+1G>T)
n.275+1G>T
c.603+1G>T (n.603+1G>T)
c.513+1G>T (n.513+1G>T)
n.759+1G>T
 gnomAD v4
13g.31269278_31269279delCA2622574906B3GLCTc.660+1_660+2del (n.660+1_660+2del)
n.275+1_275+2del
c.603+1_603+2del (n.603+1_603+2del)
c.513+1_513+2del (n.513+1_513+2del)
n.759+1_759+2del
 gnomAD v4

Number of alleles fetched