Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.219421445_219421467delinsCTCAAGGATGAGATGGCCCGCCACA1329211289DESn.603_625delinsCTCAAGGATGAGATGGCCCGCCA
n.517_539delinsCTCAAGGATGAGATGGCCCGCCA
c.1129_1151delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu377=)
n.601_623delinsCTCAAGGATGAGATGGCCCGCCA
n.524_546delinsCTCAAGGATGAGATGGCCCGCCA
c.1126_1148delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu376=)
c.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA (n.736-39_736-17delinsCTCAAGGATGAGATGGCCCGCCA)
c.1060_1082delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu354=)
c.1108_1130delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu370=)
c.859_881delinsCTCAAGGATGAGATGGCCCGCCA (p.Leu287=)
2g.219421448_219421469delCA915941735DESn.606_627del
n.520_541del
c.1132_1153del (p.Lys378CysfsTer10)
n.604_625del
n.527_548del
c.1129_1150del (p.Lys377CysfsTer10)
c.736-36_736-15del (n.736-36_736-15del)
c.1063_1084del (p.Lys355CysfsTer10)
c.1111_1132del (p.Lys371CysfsTer10)
c.862_883del (p.Lys288CysfsTer10)
 ClinVar dbSNP gnomAD v4
2g.219421459G>ACA350694542DESn.617G>A
n.531G>A
c.1143G>A (p.Met381Ile)
n.615G>A
n.538G>A
c.1140G>A (p.Met380Ile)
c.736-25G>A (n.736-25G>A)
c.1074G>A (p.Met358Ile)
c.1122G>A (p.Met374Ile)
c.873G>A (p.Met291Ile)
2g.219421459G>CCA350694540DESn.617G>C
n.531G>C
c.1143G>C (p.Met381Ile)
n.615G>C
n.538G>C
c.1140G>C (p.Met380Ile)
c.736-25G>C (n.736-25G>C)
c.1074G>C (p.Met358Ile)
c.1122G>C (p.Met374Ile)
c.873G>C (p.Met291Ile)
2g.219421459G>TCA350694537DESn.617G>T
n.531G>T
c.1143G>T (p.Met381Ile)
n.615G>T
n.538G>T
c.1140G>T (p.Met380Ile)
c.736-25G>T (n.736-25G>T)
c.1074G>T (p.Met358Ile)
c.1122G>T (p.Met374Ile)
c.873G>T (p.Met291Ile)
2g.219421460G>ACA350694546DESn.618G>A
n.532G>A
c.1144G>A (p.Ala382Thr)
n.616G>A
n.539G>A
c.1141G>A (p.Ala381Thr)
c.736-24G>A (n.736-24G>A)
c.1075G>A (p.Ala359Thr)
c.1123G>A (p.Ala375Thr)
c.874G>A (p.Ala292Thr)
 ClinVar dbSNP
2g.219421460G>CCA350694549DESn.618G>C
n.532G>C
c.1144G>C (p.Ala382Pro)
n.616G>C
n.539G>C
c.1141G>C (p.Ala381Pro)
c.736-24G>C (n.736-24G>C)
c.1075G>C (p.Ala359Pro)
c.1123G>C (p.Ala375Pro)
c.874G>C (p.Ala292Pro)
2g.219421460G=CA1329211297DESn.618G=
n.532G=
c.1144G= (p.Ala382=)
n.616G=
n.539G=
c.1141G= (p.Ala381=)
c.736-24G= (n.736-24G=)
c.1075G= (p.Ala359=)
c.1123G= (p.Ala375=)
c.874G= (p.Ala292=)
2g.219421460G>TCA350694550DESn.618G>T
n.532G>T
c.1144G>T (p.Ala382Ser)
n.616G>T
n.539G>T
c.1141G>T (p.Ala381Ser)
c.736-24G>T (n.736-24G>T)
c.1075G>T (p.Ala359Ser)
c.1123G>T (p.Ala375Ser)
c.874G>T (p.Ala292Ser)
2g.219421460_219421461delinsGCCA1329211298DESn.618_619delinsGC
n.532_533delinsGC
c.1144_1145delinsGC (p.Ala382=)
n.616_617delinsGC
n.539_540delinsGC
c.1141_1142delinsGC (p.Ala381=)
c.736-24_736-23delinsGC (n.736-24_736-23delinsGC)
c.1075_1076delinsGC (p.Ala359=)
c.1123_1124delinsGC (p.Ala375=)
c.874_875delinsGC (p.Ala292=)
2g.219421460_219421469delCA645528538DESn.618_627del
n.532_541del
c.1144_1153del (p.Ala382CysfsTer10)
n.616_625del
n.539_548del
c.1141_1150del (p.Ala381CysfsTer10)
c.736-24_736-15del (n.736-24_736-15del)
c.1075_1084del (p.Ala359CysfsTer10)
c.1123_1132del (p.Ala375CysfsTer10)
c.874_883del (p.Ala292CysfsTer10)
 COSMIC
2g.219421461C>ACA350694554DESn.619C>A
n.533C>A
c.1145C>A (p.Ala382Asp)
n.617C>A
n.540C>A
c.1142C>A (p.Ala381Asp)
c.736-23C>A (n.736-23C>A)
c.1076C>A (p.Ala359Asp)
c.1124C>A (p.Ala375Asp)
c.875C>A (p.Ala292Asp)
2g.219421461C=CA1329211300DESn.619C=
n.533C=
c.1145C= (p.Ala382=)
n.617C=
n.540C=
c.1142C= (p.Ala381=)
c.736-23C= (n.736-23C=)
c.1076C= (p.Ala359=)
c.1124C= (p.Ala375=)
c.875C= (p.Ala292=)
2g.219421461C>GCA350694563DESn.619C>G
n.533C>G
c.1145C>G (p.Ala382Gly)
n.617C>G
n.540C>G
c.1142C>G (p.Ala381Gly)
c.736-23C>G (n.736-23C>G)
c.1076C>G (p.Ala359Gly)
c.1124C>G (p.Ala375Gly)
c.875C>G (p.Ala292Gly)
2g.219421461C>TCA350694567DESn.619C>T
n.533C>T
c.1145C>T (p.Ala382Val)
n.617C>T
n.540C>T
c.1142C>T (p.Ala381Val)
c.736-23C>T (n.736-23C>T)
c.1076C>T (p.Ala359Val)
c.1124C>T (p.Ala375Val)
c.875C>T (p.Ala292Val)
 dbSNP gnomAD v2
2g.219421463delCA1329211299DESn.621del
n.535del
c.1147del (p.Arg383AlafsTer12)
n.619del
n.542del
c.1144del (p.Arg382AlafsTer12)
c.736-21del (n.736-21del)
c.1078del (p.Arg360AlafsTer12)
c.1126del (p.Arg376AlafsTer12)
c.877del (p.Arg293AlafsTer12)
 dbSNP
2g.219421462C>ACA431284418DESn.620C>A
n.534C>A
c.1146C>A (p.Ala382=)
n.618C>A
n.541C>A
c.1143C>A (p.Ala381=)
c.736-22C>A (n.736-22C>A)
c.1077C>A (p.Ala359=)
c.1125C>A (p.Ala375=)
c.876C>A (p.Ala292=)
2g.219421462C>GCA431284420DESn.620C>G
n.534C>G
c.1146C>G (p.Ala382=)
n.618C>G
n.541C>G
c.1143C>G (p.Ala381=)
c.736-22C>G (n.736-22C>G)
c.1077C>G (p.Ala359=)
c.1125C>G (p.Ala375=)
c.876C>G (p.Ala292=)
2g.219421462C>TCA431284422DESn.620C>T
n.534C>T
c.1146C>T (p.Ala382=)
n.618C>T
n.541C>T
c.1143C>T (p.Ala381=)
c.736-22C>T (n.736-22C>T)
c.1077C>T (p.Ala359=)
c.1125C>T (p.Ala375=)
c.876C>T (p.Ala292=)
 ClinVar
2g.219421463C>ACA350694572DESn.621C>A
n.535C>A
c.1147C>A (p.Arg383Ser)
n.619C>A
n.542C>A
c.1144C>A (p.Arg382Ser)
c.736-21C>A (n.736-21C>A)
c.1078C>A (p.Arg360Ser)
c.1126C>A (p.Arg376Ser)
c.877C>A (p.Arg293Ser)
 ClinVar dbSNP
2g.219421463C=CA1329211301DESn.621C=
n.535C=
c.1147C= (p.Arg383=)
n.619C=
n.542C=
c.1144C= (p.Arg382=)
c.736-21C= (n.736-21C=)
c.1078C= (p.Arg360=)
c.1126C= (p.Arg376=)
c.877C= (p.Arg293=)
2g.219421463C>GCA350694573DESn.621C>G
n.535C>G
c.1147C>G (p.Arg383Gly)
n.619C>G
n.542C>G
c.1144C>G (p.Arg382Gly)
c.736-21C>G (n.736-21C>G)
c.1078C>G (p.Arg360Gly)
c.1126C>G (p.Arg376Gly)
c.877C>G (p.Arg293Gly)
2g.219421463C>TCA2125248DESn.621C>T
n.535C>T
c.1147C>T (p.Arg383Cys)
n.619C>T
n.542C>T
c.1144C>T (p.Arg382Cys)
c.736-21C>T (n.736-21C>T)
c.1078C>T (p.Arg360Cys)
c.1126C>T (p.Arg376Cys)
c.877C>T (p.Arg293Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219421464G>ACA350694581DESn.622G>A
n.536G>A
c.1148G>A (p.Arg383His)
n.620G>A
n.543G>A
c.1145G>A (p.Arg382His)
c.736-20G>A (n.736-20G>A)
c.1079G>A (p.Arg360His)
c.1127G>A (p.Arg376His)
c.878G>A (p.Arg293His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219421464G>CCA350694585DESn.622G>C
n.536G>C
c.1148G>C (p.Arg383Pro)
n.620G>C
n.543G>C
c.1145G>C (p.Arg382Pro)
c.736-20G>C (n.736-20G>C)
c.1079G>C (p.Arg360Pro)
c.1127G>C (p.Arg376Pro)
c.878G>C (p.Arg293Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421464G=CA1329211302DESn.622G=
n.536G=
c.1148G= (p.Arg383=)
n.620G=
n.543G=
c.1145G= (p.Arg382=)
c.736-20G= (n.736-20G=)
c.1079G= (p.Arg360=)
c.1127G= (p.Arg376=)
c.878G= (p.Arg293=)
2g.219421464G>TCA350694588DESn.622G>T
n.536G>T
c.1148G>T (p.Arg383Leu)
n.620G>T
n.543G>T
c.1145G>T (p.Arg382Leu)
c.736-20G>T (n.736-20G>T)
c.1079G>T (p.Arg360Leu)
c.1127G>T (p.Arg376Leu)
c.878G>T (p.Arg293Leu)
 dbSNP gnomAD v4 COSMIC
2g.219421465C>ACA431284425DESn.623C>A
n.537C>A
c.1149C>A (p.Arg383=)
n.621C>A
n.544C>A
c.1146C>A (p.Arg382=)
c.736-19C>A (n.736-19C>A)
c.1080C>A (p.Arg360=)
c.1128C>A (p.Arg376=)
c.879C>A (p.Arg293=)
2g.219421465C=CA1329211303DESn.623C=
n.537C=
c.1149C= (p.Arg383=)
n.621C=
n.544C=
c.1146C= (p.Arg382=)
c.736-19C= (n.736-19C=)
c.1080C= (p.Arg360=)
c.1128C= (p.Arg376=)
c.879C= (p.Arg293=)
2g.219421465C>GCA431284429DESn.623C>G
n.537C>G
c.1149C>G (p.Arg383=)
n.621C>G
n.544C>G
c.1146C>G (p.Arg382=)
c.736-19C>G (n.736-19C>G)
c.1080C>G (p.Arg360=)
c.1128C>G (p.Arg376=)
c.879C>G (p.Arg293=)
2g.219421465C>TCA431284428DESn.623C>T
n.537C>T
c.1149C>T (p.Arg383=)
n.621C>T
n.544C>T
c.1146C>T (p.Arg382=)
c.736-19C>T (n.736-19C>T)
c.1080C>T (p.Arg360=)
c.1128C>T (p.Arg376=)
c.879C>T (p.Arg293=)
 dbSNP
2g.219421466C>ACA350694599DESn.624C>A
n.538C>A
c.1150C>A (p.His384Asn)
n.622C>A
n.545C>A
c.1147C>A (p.His383Asn)
c.736-18C>A (n.736-18C>A)
c.1081C>A (p.His361Asn)
c.1129C>A (p.His377Asn)
c.880C>A (p.His294Asn)
2g.219421466C>GCA350694597DESn.624C>G
n.538C>G
c.1150C>G (p.His384Asp)
n.622C>G
n.545C>G
c.1147C>G (p.His383Asp)
c.736-18C>G (n.736-18C>G)
c.1081C>G (p.His361Asp)
c.1129C>G (p.His377Asp)
c.880C>G (p.His294Asp)
2g.219421466C>TCA350694592DESn.624C>T
n.538C>T
c.1150C>T (p.His384Tyr)
n.622C>T
n.545C>T
c.1147C>T (p.His383Tyr)
c.736-18C>T (n.736-18C>T)
c.1081C>T (p.His361Tyr)
c.1129C>T (p.His377Tyr)
c.880C>T (p.His294Tyr)
2g.219421467A=CA1329211304DESn.625A=
n.539A=
c.1151A= (p.His384=)
n.623A=
n.546A=
c.1148A= (p.His383=)
c.736-17A= (n.736-17A=)
c.1082A= (p.His361=)
c.1130A= (p.His377=)
c.881A= (p.His294=)
2g.219421467A>CCA350694604DESn.625A>C
n.539A>C
c.1151A>C (p.His384Pro)
n.623A>C
n.546A>C
c.1148A>C (p.His383Pro)
c.736-17A>C (n.736-17A>C)
c.1082A>C (p.His361Pro)
c.1130A>C (p.His377Pro)
c.881A>C (p.His294Pro)
 ClinVar
2g.219421467A>GCA350694607DESn.625A>G
n.539A>G
c.1151A>G (p.His384Arg)
n.623A>G
n.546A>G
c.1148A>G (p.His383Arg)
c.736-17A>G (n.736-17A>G)
c.1082A>G (p.His361Arg)
c.1130A>G (p.His377Arg)
c.881A>G (p.His294Arg)
 ClinVar dbSNP gnomAD v4
2g.219421467A>TCA350694610DESn.625A>T
n.539A>T
c.1151A>T (p.His384Leu)
n.623A>T
n.546A>T
c.1148A>T (p.His383Leu)
c.736-17A>T (n.736-17A>T)
c.1082A>T (p.His361Leu)
c.1130A>T (p.His377Leu)
c.881A>T (p.His294Leu)
2g.219421468T>ACA350694614DESn.626T>A
n.540T>A
c.1152T>A (p.His384Gln)
n.624T>A
n.547T>A
c.1149T>A (p.His383Gln)
c.736-16T>A (n.736-16T>A)
c.1083T>A (p.His361Gln)
c.1131T>A (p.His377Gln)
c.882T>A (p.His294Gln)
2g.219421468T>CCA431284433DESn.626T>C
n.540T>C
c.1152T>C (p.His384=)
n.624T>C
n.547T>C
c.1149T>C (p.His383=)
c.736-16T>C (n.736-16T>C)
c.1083T>C (p.His361=)
c.1131T>C (p.His377=)
c.882T>C (p.His294=)
 dbSNP
2g.219421468T>GCA350694616DESn.626T>G
n.540T>G
c.1152T>G (p.His384Gln)
n.624T>G
n.547T>G
c.1149T>G (p.His383Gln)
c.736-16T>G (n.736-16T>G)
c.1083T>G (p.His361Gln)
c.1131T>G (p.His377Gln)
c.882T>G (p.His294Gln)
2g.219421468T=CA1329211305DESn.626T=
n.540T=
c.1152T= (p.His384=)
n.624T=
n.547T=
c.1149T= (p.His383=)
c.736-16T= (n.736-16T=)
c.1083T= (p.His361=)
c.1131T= (p.His377=)
c.882T= (p.His294=)
2g.219421469C>ACA350694620DESn.627C>A
n.541C>A
c.1153C>A (p.Leu385Met)
n.625C>A
n.548C>A
c.1150C>A (p.Leu384Met)
c.736-15C>A (n.736-15C>A)
c.1084C>A (p.Leu362Met)
c.1132C>A (p.Leu378Met)
c.883C>A (p.Leu295Met)
2g.219421469C=CA1329211306DESn.627C=
n.541C=
c.1153C= (p.Leu385=)
n.625C=
n.548C=
c.1150C= (p.Leu384=)
c.736-15C= (n.736-15C=)
c.1084C= (p.Leu362=)
c.1132C= (p.Leu378=)
c.883C= (p.Leu295=)
2g.219421469C>GCA350694622DESn.627C>G
n.541C>G
c.1153C>G (p.Leu385Val)
n.625C>G
n.548C>G
c.1150C>G (p.Leu384Val)
c.736-15C>G (n.736-15C>G)
c.1084C>G (p.Leu362Val)
c.1132C>G (p.Leu378Val)
c.883C>G (p.Leu295Val)
 ClinVar dbSNP
2g.219421469C>TCA431284435DESn.627C>T
n.541C>T
c.1153C>T (p.Leu385=)
n.625C>T
n.548C>T
c.1150C>T (p.Leu384=)
c.736-15C>T (n.736-15C>T)
c.1084C>T (p.Leu362=)
c.1132C>T (p.Leu378=)
c.883C>T (p.Leu295=)
 dbSNP
2g.219421470T>ACA350694626DESn.628T>A
n.542T>A
c.1154T>A (p.Leu385Gln)
n.626T>A
n.549T>A
c.1151T>A (p.Leu384Gln)
c.736-14T>A (n.736-14T>A)
c.1085T>A (p.Leu362Gln)
c.1133T>A (p.Leu378Gln)
c.884T>A (p.Leu295Gln)
2g.219421470T>CCA217023DESn.628T>C
n.542T>C
c.1154T>C (p.Leu385Pro)
n.626T>C
n.549T>C
c.1151T>C (p.Leu384Pro)
c.736-14T>C (n.736-14T>C)
c.1085T>C (p.Leu362Pro)
c.1133T>C (p.Leu378Pro)
c.884T>C (p.Leu295Pro)
 ClinVar dbSNP
2g.219421470T>GCA350694629DESn.628T>G
n.542T>G
c.1154T>G (p.Leu385Arg)
n.626T>G
n.549T>G
c.1151T>G (p.Leu384Arg)
c.736-14T>G (n.736-14T>G)
c.1085T>G (p.Leu362Arg)
c.1133T>G (p.Leu378Arg)
c.884T>G (p.Leu295Arg)
2g.219421470T=CA1329211307DESn.628T=
n.542T=
c.1154T= (p.Leu385=)
n.626T=
n.549T=
c.1151T= (p.Leu384=)
c.736-14T= (n.736-14T=)
c.1085T= (p.Leu362=)
c.1133T= (p.Leu378=)
c.884T= (p.Leu295=)
2g.219421471G>ACA431284437DESn.629G>A
n.543G>A
c.1155G>A (p.Leu385=)
n.627G>A
n.550G>A
c.1152G>A (p.Leu384=)
c.736-13G>A (n.736-13G>A)
c.1086G>A (p.Leu362=)
c.1134G>A (p.Leu378=)
c.885G>A (p.Leu295=)
 dbSNP gnomAD v2 gnomAD v4
2g.219421471G>CCA431284438DESn.629G>C
n.543G>C
c.1155G>C (p.Leu385=)
n.627G>C
n.550G>C
c.1152G>C (p.Leu384=)
c.736-13G>C (n.736-13G>C)
c.1086G>C (p.Leu362=)
c.1134G>C (p.Leu378=)
c.885G>C (p.Leu295=)
2g.219421471G=CA1329211308DESn.629G=
n.543G=
c.1155G= (p.Leu385=)
n.627G=
n.550G=
c.1152G= (p.Leu384=)
c.736-13G= (n.736-13G=)
c.1086G= (p.Leu362=)
c.1134G= (p.Leu378=)
c.885G= (p.Leu295=)
2g.219421471G>TCA431284439DESn.629G>T
n.543G>T
c.1155G>T (p.Leu385=)
n.627G>T
n.550G>T
c.1152G>T (p.Leu384=)
c.736-13G>T (n.736-13G>T)
c.1086G>T (p.Leu362=)
c.1134G>T (p.Leu378=)
c.885G>T (p.Leu295=)
2g.219421472C>ACA350694634DESn.630C>A
n.544C>A
c.1156C>A (p.Arg386Ser)
n.628C>A
n.551C>A
c.1153C>A (p.Arg385Ser)
c.736-12C>A (n.736-12C>A)
c.1087C>A (p.Arg363Ser)
c.1135C>A (p.Arg379Ser)
c.886C>A (p.Arg296Ser)
2g.219421472C=CA1329211309DESn.630C=
n.544C=
c.1156C= (p.Arg386=)
n.628C=
n.551C=
c.1153C= (p.Arg385=)
c.736-12C= (n.736-12C=)
c.1087C= (p.Arg363=)
c.1135C= (p.Arg379=)
c.886C= (p.Arg296=)
2g.219421472C>GCA350694636DESn.630C>G
n.544C>G
c.1156C>G (p.Arg386Gly)
n.628C>G
n.551C>G
c.1153C>G (p.Arg385Gly)
c.736-12C>G (n.736-12C>G)
c.1087C>G (p.Arg363Gly)
c.1135C>G (p.Arg379Gly)
c.886C>G (p.Arg296Gly)
2g.219421472C>TCA2125249DESn.630C>T
n.544C>T
c.1156C>T (p.Arg386Cys)
n.628C>T
n.551C>T
c.1153C>T (p.Arg385Cys)
c.736-12C>T (n.736-12C>T)
c.1087C>T (p.Arg363Cys)
c.1135C>T (p.Arg379Cys)
c.886C>T (p.Arg296Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219421473G>ACA65983597DESn.631G>A
n.545G>A
c.1157G>A (p.Arg386His)
n.629G>A
n.552G>A
c.1154G>A (p.Arg385His)
c.736-11G>A (n.736-11G>A)
c.1088G>A (p.Arg363His)
c.1136G>A (p.Arg379His)
c.887G>A (p.Arg296His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421473G>CCA350694642DESn.631G>C
n.545G>C
c.1157G>C (p.Arg386Pro)
n.629G>C
n.552G>C
c.1154G>C (p.Arg385Pro)
c.736-11G>C (n.736-11G>C)
c.1088G>C (p.Arg363Pro)
c.1136G>C (p.Arg379Pro)
c.887G>C (p.Arg296Pro)
2g.219421473G=CA1329211311DESn.631G=
n.545G=
c.1157G= (p.Arg386=)
n.629G=
n.552G=
c.1154G= (p.Arg385=)
c.736-11G= (n.736-11G=)
c.1088G= (p.Arg363=)
c.1136G= (p.Arg379=)
c.887G= (p.Arg296=)
2g.219421473G>TCA350694645DESn.631G>T
n.545G>T
c.1157G>T (p.Arg386Leu)
n.629G>T
n.552G>T
c.1154G>T (p.Arg385Leu)
c.736-11G>T (n.736-11G>T)
c.1088G>T (p.Arg363Leu)
c.1136G>T (p.Arg379Leu)
c.887G>T (p.Arg296Leu)
 ClinVar COSMIC
2g.219421473_219421476delinsGCGACA1329211310DESn.631_634delinsGCGA
n.545_548delinsGCGA
c.1157_1160delinsGCGA (p.Arg386=)
n.629_632delinsGCGA
n.552_555delinsGCGA
c.1154_1157delinsGCGA (p.Arg385=)
c.736-11_736-8delinsGCGA (n.736-11_736-8delinsGCGA)
c.1088_1091delinsGCGA (p.Arg363=)
c.1136_1139delinsGCGA (p.Arg379=)
c.887_890delinsGCGA (p.Arg296=)
2g.219421474C>ACA431284443DESn.632C>A
n.546C>A
c.1158C>A (p.Arg386=)
n.630C>A
n.553C>A
c.1155C>A (p.Arg385=)
c.736-10C>A (n.736-10C>A)
c.1089C>A (p.Arg363=)
c.1137C>A (p.Arg379=)
c.888C>A (p.Arg296=)
 dbSNP
2g.219421474C=CA1329211312DESn.632C=
n.546C=
c.1158C= (p.Arg386=)
n.630C=
n.553C=
c.1155C= (p.Arg385=)
c.736-10C= (n.736-10C=)
c.1089C= (p.Arg363=)
c.1137C= (p.Arg379=)
c.888C= (p.Arg296=)
2g.219421474C>GCA431284444DESn.632C>G
n.546C>G
c.1158C>G (p.Arg386=)
n.630C>G
n.553C>G
c.1155C>G (p.Arg385=)
c.736-10C>G (n.736-10C>G)
c.1089C>G (p.Arg363=)
c.1137C>G (p.Arg379=)
c.888C>G (p.Arg296=)
 dbSNP
2g.219421474C>TCA2125250DESn.632C>T
n.546C>T
c.1158C>T (p.Arg386=)
n.630C>T
n.553C>T
c.1155C>T (p.Arg385=)
c.736-10C>T (n.736-10C>T)
c.1089C>T (p.Arg363=)
c.1137C>T (p.Arg379=)
c.888C>T (p.Arg296=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219421474_219421476delCA891843392DESn.632_634del
n.546_548del
c.1158_1160del (p.Glu387del)
n.630_632del
n.553_555del
c.1155_1157del (p.Glu386del)
c.736-10_736-8del (n.736-10_736-8del)
c.1089_1091del (p.Glu364del)
c.1137_1139del (p.Glu380del)
c.888_890del (p.Glu297del)
 ClinVar dbSNP
2g.219421474_219421476delinsTACCAGGACCTGCTGCA2573135388DESn.632_634delinsTACCAGGACCTGCTG
n.546_548delinsTACCAGGACCTGCTG
c.1158_1160delinsTACCAGGACCTGCTG (p.Glu387delinsThrArgThrCysTrp)
n.630_632delinsTACCAGGACCTGCTG
n.553_555delinsTACCAGGACCTGCTG
c.1155_1157delinsTACCAGGACCTGCTG (p.Glu386delinsThrArgThrCysTrp)
c.736-10_736-8delinsTACCAGGACCTGCTG (n.736-10_736-8delinsTACCAGGACCTGCTG)
c.1089_1091delinsTACCAGGACCTGCTG (p.Glu364delinsThrArgThrCysTrp)
c.1137_1139delinsTACCAGGACCTGCTG (p.Glu380delinsThrArgThrCysTrp)
c.888_890delinsTACCAGGACCTGCTG (p.Glu297delinsThrArgThrCysTrp)
 ClinVar dbSNP
2g.219421475G>ACA10581951DESn.633G>A
n.547G>A
c.1159G>A (p.Glu387Lys)
n.631G>A
n.554G>A
c.1156G>A (p.Glu386Lys)
c.736-9G>A (n.736-9G>A)
c.1090G>A (p.Glu364Lys)
c.1138G>A (p.Glu380Lys)
c.889G>A (p.Glu297Lys)
 ClinVar dbSNP gnomAD v4
2g.219421475G>CCA350694658DESn.633G>C
n.547G>C
c.1159G>C (p.Glu387Gln)
n.631G>C
n.554G>C
c.1156G>C (p.Glu386Gln)
c.736-9G>C (n.736-9G>C)
c.1090G>C (p.Glu364Gln)
c.1138G>C (p.Glu380Gln)
c.889G>C (p.Glu297Gln)
2g.219421475G=CA1329211313DESn.633G=
n.547G=
c.1159G= (p.Glu387=)
n.631G=
n.554G=
c.1156G= (p.Glu386=)
c.736-9G= (n.736-9G=)
c.1090G= (p.Glu364=)
c.1138G= (p.Glu380=)
c.889G= (p.Glu297=)
2g.219421475G>TCA350694661DESn.633G>T
n.547G>T
c.1159G>T (p.Glu387Ter)
n.631G>T
n.554G>T
c.1156G>T (p.Glu386Ter)
c.736-9G>T (n.736-9G>T)
c.1090G>T (p.Glu364Ter)
c.1138G>T (p.Glu380Ter)
c.889G>T (p.Glu297Ter)
 gnomAD v4
2g.219421476A>CCA350694665DESn.634A>C
n.548A>C
c.1160A>C (p.Glu387Ala)
n.632A>C
n.555A>C
c.1157A>C (p.Glu386Ala)
c.736-8A>C (n.736-8A>C)
c.1091A>C (p.Glu364Ala)
c.1139A>C (p.Glu380Ala)
c.890A>C (p.Glu297Ala)
2g.219421476A>GCA350694668DESn.634A>G
n.548A>G
c.1160A>G (p.Glu387Gly)
n.632A>G
n.555A>G
c.1157A>G (p.Glu386Gly)
c.736-8A>G (n.736-8A>G)
c.1091A>G (p.Glu364Gly)
c.1139A>G (p.Glu380Gly)
c.890A>G (p.Glu297Gly)
2g.219421476A>TCA350694671DESn.634A>T
n.548A>T
c.1160A>T (p.Glu387Val)
n.632A>T
n.555A>T
c.1157A>T (p.Glu386Val)
c.736-8A>T (n.736-8A>T)
c.1091A>T (p.Glu364Val)
c.1139A>T (p.Glu380Val)
c.890A>T (p.Glu297Val)
2g.219421477G>ACA431284452DESn.635G>A
n.549G>A
c.1161G>A (p.Glu387=)
n.633G>A
n.556G>A
c.1158G>A (p.Glu386=)
c.736-7G>A (n.736-7G>A)
c.1092G>A (p.Glu364=)
c.1140G>A (p.Glu380=)
c.891G>A (p.Glu297=)
 gnomAD v4
2g.219421477G>CCA350694675DESn.635G>C
n.549G>C
c.1161G>C (p.Glu387Asp)
n.633G>C
n.556G>C
c.1158G>C (p.Glu386Asp)
c.736-7G>C (n.736-7G>C)
c.1092G>C (p.Glu364Asp)
c.1140G>C (p.Glu380Asp)
c.891G>C (p.Glu297Asp)
 gnomAD v3 gnomAD v4
2g.219421477G>TCA350694678DESn.635G>T
n.549G>T
c.1161G>T (p.Glu387Asp)
n.633G>T
n.556G>T
c.1158G>T (p.Glu386Asp)
c.736-7G>T (n.736-7G>T)
c.1092G>T (p.Glu364Asp)
c.1140G>T (p.Glu380Asp)
c.891G>T (p.Glu297Asp)
2g.219421478T>ACA350694683DESn.636T>A
n.550T>A
c.1162T>A (p.Tyr388Asn)
n.634T>A
n.557T>A
c.1159T>A (p.Tyr387Asn)
c.736-6T>A (n.736-6T>A)
c.1093T>A (p.Tyr365Asn)
c.1141T>A (p.Tyr381Asn)
c.892T>A (p.Tyr298Asn)
2g.219421478T>CCA350694684DESn.636T>C
n.550T>C
c.1162T>C (p.Tyr388His)
n.634T>C
n.557T>C
c.1159T>C (p.Tyr387His)
c.736-6T>C (n.736-6T>C)
c.1093T>C (p.Tyr365His)
c.1141T>C (p.Tyr381His)
c.892T>C (p.Tyr298His)
2g.219421478T>GCA350694688DESn.636T>G
n.550T>G
c.1162T>G (p.Tyr388Asp)
n.634T>G
n.557T>G
c.1159T>G (p.Tyr387Asp)
c.736-6T>G (n.736-6T>G)
c.1093T>G (p.Tyr365Asp)
c.1141T>G (p.Tyr381Asp)
c.892T>G (p.Tyr298Asp)
 gnomAD v3 gnomAD v4
2g.219421479A>CCA350694703DESn.637A>C
n.551A>C
c.1163A>C (p.Tyr388Ser)
n.635A>C
n.558A>C
c.1160A>C (p.Tyr387Ser)
c.736-5A>C (n.736-5A>C)
c.1094A>C (p.Tyr365Ser)
c.1142A>C (p.Tyr381Ser)
c.893A>C (p.Tyr298Ser)
2g.219421479A>GCA350694700DESn.637A>G
n.551A>G
c.1163A>G (p.Tyr388Cys)
n.635A>G
n.558A>G
c.1160A>G (p.Tyr387Cys)
c.736-5A>G (n.736-5A>G)
c.1094A>G (p.Tyr365Cys)
c.1142A>G (p.Tyr381Cys)
c.893A>G (p.Tyr298Cys)
2g.219421479A>TCA350694693DESn.637A>T
n.551A>T
c.1163A>T (p.Tyr388Phe)
n.635A>T
n.558A>T
c.1160A>T (p.Tyr387Phe)
c.736-5A>T (n.736-5A>T)
c.1094A>T (p.Tyr365Phe)
c.1142A>T (p.Tyr381Phe)
c.893A>T (p.Tyr298Phe)
2g.219421480C>ACA350694710DESn.638C>A
n.552C>A
c.1164C>A (p.Tyr388Ter)
n.636C>A
n.559C>A
c.1161C>A (p.Tyr387Ter)
c.736-4C>A (n.736-4C>A)
c.1095C>A (p.Tyr365Ter)
c.1143C>A (p.Tyr381Ter)
c.894C>A (p.Tyr298Ter)
2g.219421480C>GCA350694708DESn.638C>G
n.552C>G
c.1164C>G (p.Tyr388Ter)
n.636C>G
n.559C>G
c.1161C>G (p.Tyr387Ter)
c.736-4C>G (n.736-4C>G)
c.1095C>G (p.Tyr365Ter)
c.1143C>G (p.Tyr381Ter)
c.894C>G (p.Tyr298Ter)
2g.219421480C>TCA431284454DESn.638C>T
n.552C>T
c.1164C>T (p.Tyr388=)
n.636C>T
n.559C>T
c.1161C>T (p.Tyr387=)
c.736-4C>T (n.736-4C>T)
c.1095C>T (p.Tyr365=)
c.1143C>T (p.Tyr381=)
c.894C>T (p.Tyr298=)
 gnomAD v4
2g.219421481C>ACA350694716DESn.639C>A
n.553C>A
c.1165C>A (p.Gln389Lys)
n.637C>A
n.560C>A
c.1162C>A (p.Gln388Lys)
c.736-3C>A (n.736-3C>A)
c.1096C>A (p.Gln366Lys)
c.1144C>A (p.Gln382Lys)
c.895C>A (p.Gln299Lys)
2g.219421481C>GCA350694713DESn.639C>G
n.553C>G
c.1165C>G (p.Gln389Glu)
n.637C>G
n.560C>G
c.1162C>G (p.Gln388Glu)
c.736-3C>G (n.736-3C>G)
c.1096C>G (p.Gln366Glu)
c.1144C>G (p.Gln382Glu)
c.895C>G (p.Gln299Glu)
2g.219421481C>TCA350694719DESn.639C>T
n.553C>T
c.1165C>T (p.Gln389Ter)
n.637C>T
n.560C>T
c.1162C>T (p.Gln388Ter)
c.736-3C>T (n.736-3C>T)
c.1096C>T (p.Gln366Ter)
c.1144C>T (p.Gln382Ter)
c.895C>T (p.Gln299Ter)
2g.219421482A=CA1329211314DESn.640A=
n.554A=
c.1166A= (p.Gln389=)
n.638A=
n.561A=
c.1163A= (p.Gln388=)
c.736-2A= (n.736-2A=)
c.1097A= (p.Gln366=)
c.1145A= (p.Gln382=)
c.896A= (p.Gln299=)
2g.219421482A>CCA217025DESn.640A>C
n.554A>C
c.1166A>C (p.Gln389Pro)
n.638A>C
n.561A>C
c.1163A>C (p.Gln388Pro)
c.736-2A>C (n.736-2A>C)
c.1097A>C (p.Gln366Pro)
c.1145A>C (p.Gln382Pro)
c.896A>C (p.Gln299Pro)
 ClinVar dbSNP
2g.219421482A>GCA350694726DESn.640A>G
n.554A>G
c.1166A>G (p.Gln389Arg)
n.638A>G
n.561A>G
c.1163A>G (p.Gln388Arg)
c.736-2A>G (n.736-2A>G)
c.1097A>G (p.Gln366Arg)
c.1145A>G (p.Gln382Arg)
c.896A>G (p.Gln299Arg)
 ClinVar gnomAD v4
2g.219421482A>TCA350694729DESn.640A>T
n.554A>T
c.1166A>T (p.Gln389Leu)
n.638A>T
n.561A>T
c.1163A>T (p.Gln388Leu)
c.736-2A>T (n.736-2A>T)
c.1097A>T (p.Gln366Leu)
c.1145A>T (p.Gln382Leu)
c.896A>T (p.Gln299Leu)
2g.219421483G>ACA431284457DESn.641G>A
n.555G>A
c.1167G>A (p.Gln389=)
n.639G>A
n.562G>A
c.1164G>A (p.Gln388=)
c.736-1G>A (n.736-1G>A)
c.1098G>A (p.Gln366=)
c.1146G>A (p.Gln382=)
c.897G>A (p.Gln299=)
2g.219421483G>CCA350694734DESn.641G>C
n.555G>C
c.1167G>C (p.Gln389His)
n.639G>C
n.562G>C
c.1164G>C (p.Gln388His)
c.736-1G>C (n.736-1G>C)
c.1098G>C (p.Gln366His)
c.1146G>C (p.Gln382His)
c.897G>C (p.Gln299His)
2g.219421483G=CA1329211315DESn.641G=
n.555G=
c.1167G= (p.Gln389=)
n.639G=
n.562G=
c.1164G= (p.Gln388=)
c.736-1G= (n.736-1G=)
c.1098G= (p.Gln366=)
c.1146G= (p.Gln382=)
c.897G= (p.Gln299=)
2g.219421483G>TCA246640DESn.641G>T
n.555G>T
c.1167G>T (p.Gln389His)
n.639G>T
n.562G>T
c.1164G>T (p.Gln388His)
c.736-1G>T (n.736-1G>T)
c.1098G>T (p.Gln366His)
c.1146G>T (p.Gln382His)
c.897G>T (p.Gln299His)
 ClinVar dbSNP
2g.219421484G>ACA350694739DESn.642G>A
n.556G>A
c.1168G>A (p.Asp390Asn)
n.640G>A
n.563G>A
c.1165G>A (p.Asp389Asn)
c.736G>A (p.Asp246Asn)
c.1099G>A (p.Asp367Asn)
c.1147G>A (p.Asp383Asn)
c.898G>A (p.Asp300Asn)
2g.219421484G>CCA350694742DESn.642G>C
n.556G>C
c.1168G>C (p.Asp390His)
n.640G>C
n.563G>C
c.1165G>C (p.Asp389His)
c.736G>C (p.Asp246His)
c.1099G>C (p.Asp367His)
c.1147G>C (p.Asp383His)
c.898G>C (p.Asp300His)
2g.219421484G>TCA350694745DESn.642G>T
n.556G>T
c.1168G>T (p.Asp390Tyr)
n.640G>T
n.563G>T
c.1165G>T (p.Asp389Tyr)
c.736G>T (p.Asp246Tyr)
c.1099G>T (p.Asp367Tyr)
c.1147G>T (p.Asp383Tyr)
c.898G>T (p.Asp300Tyr)
2g.219421485A>CCA350694749DESn.643A>C
n.557A>C
c.1169A>C (p.Asp390Ala)
n.641A>C
n.564A>C
c.1166A>C (p.Asp389Ala)
c.737A>C (p.Asp246Ala)
c.1100A>C (p.Asp367Ala)
c.1148A>C (p.Asp383Ala)
c.899A>C (p.Asp300Ala)
2g.219421485A>GCA350694752DESn.643A>G
n.557A>G
c.1169A>G (p.Asp390Gly)
n.641A>G
n.564A>G
c.1166A>G (p.Asp389Gly)
c.737A>G (p.Asp246Gly)
c.1100A>G (p.Asp367Gly)
c.1148A>G (p.Asp383Gly)
c.899A>G (p.Asp300Gly)
2g.219421485A>TCA350694755DESn.643A>T
n.557A>T
c.1169A>T (p.Asp390Val)
n.641A>T
n.564A>T
c.1166A>T (p.Asp389Val)
c.737A>T (p.Asp246Val)
c.1100A>T (p.Asp367Val)
c.1148A>T (p.Asp383Val)
c.899A>T (p.Asp300Val)
2g.219421486C>ACA350694761DESn.644C>A
n.558C>A
c.1170C>A (p.Asp390Glu)
n.642C>A
n.565C>A
c.1167C>A (p.Asp389Glu)
c.738C>A (p.Asp246Glu)
c.1101C>A (p.Asp367Glu)
c.1149C>A (p.Asp383Glu)
c.900C>A (p.Asp300Glu)
2g.219421486C=CA1329211316DESn.644C=
n.558C=
c.1170C= (p.Asp390=)
n.642C=
n.565C=
c.1167C= (p.Asp389=)
c.738C= (p.Asp246=)
c.1101C= (p.Asp367=)
c.1149C= (p.Asp383=)
c.900C= (p.Asp300=)
2g.219421486C>GCA350694759DESn.644C>G
n.558C>G
c.1170C>G (p.Asp390Glu)
n.642C>G
n.565C>G
c.1167C>G (p.Asp389Glu)
c.738C>G (p.Asp246Glu)
c.1101C>G (p.Asp367Glu)
c.1149C>G (p.Asp383Glu)
c.900C>G (p.Asp300Glu)
2g.219421486C>TCA431284464DESn.644C>T
n.558C>T
c.1170C>T (p.Asp390=)
n.642C>T
n.565C>T
c.1167C>T (p.Asp389=)
c.738C>T (p.Asp246=)
c.1101C>T (p.Asp367=)
c.1149C>T (p.Asp383=)
c.900C>T (p.Asp300=)
 dbSNP gnomAD v4
2g.219421487delCA2580065864DESn.645del
n.559del
c.1171del (p.Leu391CysfsTer4)
n.643del
n.566del
c.1168del (p.Leu390CysfsTer4)
c.739del (p.Leu247CysfsTer4)
c.1102del (p.Leu368CysfsTer4)
c.1150del (p.Leu384CysfsTer4)
c.901del (p.Leu301CysfsTer4)
 ClinVar
2g.219421487C>ACA350694764DESn.645C>A
n.559C>A
c.1171C>A (p.Leu391Met)
n.643C>A
n.566C>A
c.1168C>A (p.Leu390Met)
c.739C>A (p.Leu247Met)
c.1102C>A (p.Leu368Met)
c.1150C>A (p.Leu384Met)
c.901C>A (p.Leu301Met)
2g.219421487C>GCA350694766DESn.645C>G
n.559C>G
c.1171C>G (p.Leu391Val)
n.643C>G
n.566C>G
c.1168C>G (p.Leu390Val)
c.739C>G (p.Leu247Val)
c.1102C>G (p.Leu368Val)
c.1150C>G (p.Leu384Val)
c.901C>G (p.Leu301Val)
2g.219421487C>TCA431284465DESn.645C>T
n.559C>T
c.1171C>T (p.Leu391=)
n.643C>T
n.566C>T
c.1168C>T (p.Leu390=)
c.739C>T (p.Leu247=)
c.1102C>T (p.Leu368=)
c.1150C>T (p.Leu384=)
c.901C>T (p.Leu301=)
2g.219421488T>ACA350694769DESn.646T>A
n.560T>A
c.1172T>A (p.Leu391Gln)
n.644T>A
n.567T>A
c.1169T>A (p.Leu390Gln)
c.740T>A (p.Leu247Gln)
c.1103T>A (p.Leu368Gln)
c.1151T>A (p.Leu384Gln)
c.902T>A (p.Leu301Gln)
2g.219421488T>CCA350694771DESn.646T>C
n.560T>C
c.1172T>C (p.Leu391Pro)
n.644T>C
n.567T>C
c.1169T>C (p.Leu390Pro)
c.740T>C (p.Leu247Pro)
c.1103T>C (p.Leu368Pro)
c.1151T>C (p.Leu384Pro)
c.902T>C (p.Leu301Pro)
 ClinVar dbSNP
2g.219421488T>GCA350694775DESn.646T>G
n.560T>G
c.1172T>G (p.Leu391Arg)
n.644T>G
n.567T>G
c.1169T>G (p.Leu390Arg)
c.740T>G (p.Leu247Arg)
c.1103T>G (p.Leu368Arg)
c.1151T>G (p.Leu384Arg)
c.902T>G (p.Leu301Arg)
 ClinVar dbSNP
2g.219421488T=CA1329211317DESn.646T=
n.560T=
c.1172T= (p.Leu391=)
n.644T=
n.567T=
c.1169T= (p.Leu390=)
c.740T= (p.Leu247=)
c.1103T= (p.Leu368=)
c.1151T= (p.Leu384=)
c.902T= (p.Leu301=)
2g.219421489G>ACA2125251DESn.647G>A
n.561G>A
c.1173G>A (p.Leu391=)
n.645G>A
n.568G>A
c.1170G>A (p.Leu390=)
c.741G>A (p.Leu247=)
c.1104G>A (p.Leu368=)
c.1152G>A (p.Leu384=)
c.903G>A (p.Leu301=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219421489G>CCA431284466DESn.647G>C
n.561G>C
c.1173G>C (p.Leu391=)
n.645G>C
n.568G>C
c.1170G>C (p.Leu390=)
c.741G>C (p.Leu247=)
c.1104G>C (p.Leu368=)
c.1152G>C (p.Leu384=)
c.903G>C (p.Leu301=)
2g.219421489G=CA1329211318DESn.647G=
n.561G=
c.1173G= (p.Leu391=)
n.645G=
n.568G=
c.1170G= (p.Leu390=)
c.741G= (p.Leu247=)
c.1104G= (p.Leu368=)
c.1152G= (p.Leu384=)
c.903G= (p.Leu301=)
2g.219421489G>TCA431284467DESn.647G>T
n.561G>T
c.1173G>T (p.Leu391=)
n.645G>T
n.568G>T
c.1170G>T (p.Leu390=)
c.741G>T (p.Leu247=)
c.1104G>T (p.Leu368=)
c.1152G>T (p.Leu384=)
c.903G>T (p.Leu301=)
2g.219421489_219421490dupCA2539756905DESn.647_648dup
n.561_562dup
c.1173_1174dup (p.Leu392ArgfsTer4)
n.645_646dup
n.568_569dup
c.1170_1171dup (p.Leu391ArgfsTer4)
c.741_742dup (p.Leu248ArgfsTer4)
c.1104_1105dup (p.Leu369ArgfsTer4)
c.1152_1153dup (p.Leu385ArgfsTer4)
c.903_904dup (p.Leu302ArgfsTer4)
2g.219421490C>ACA350694779DESn.648C>A
n.562C>A
c.1174C>A (p.Leu392Ile)
n.646C>A
n.569C>A
c.1171C>A (p.Leu391Ile)
c.742C>A (p.Leu248Ile)
c.1105C>A (p.Leu369Ile)
c.1153C>A (p.Leu385Ile)
c.904C>A (p.Leu302Ile)
2g.219421490C>GCA350694781DESn.648C>G
n.562C>G
c.1174C>G (p.Leu392Val)
n.646C>G
n.569C>G
c.1171C>G (p.Leu391Val)
c.742C>G (p.Leu248Val)
c.1105C>G (p.Leu369Val)
c.1153C>G (p.Leu385Val)
c.904C>G (p.Leu302Val)
2g.219421490C>TCA350694784DESn.648C>T
n.562C>T
c.1174C>T (p.Leu392Phe)
n.646C>T
n.569C>T
c.1171C>T (p.Leu391Phe)
c.742C>T (p.Leu248Phe)
c.1105C>T (p.Leu369Phe)
c.1153C>T (p.Leu385Phe)
c.904C>T (p.Leu302Phe)
2g.219421490_219421491insGCTCA2511289613DESn.648_649insGCT
n.562_563insGCT
c.1174_1175insGCT (p.Leu392delinsArgPhe)
n.646_647insGCT
n.569_570insGCT
c.1171_1172insGCT (p.Leu391delinsArgPhe)
c.742_743insGCT (p.Leu248delinsArgPhe)
c.1105_1106insGCT (p.Leu369delinsArgPhe)
c.1153_1154insGCT (p.Leu385delinsArgPhe)
c.904_905insGCT (p.Leu302delinsArgPhe)
2g.219421490_219421491insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCACA2754326071DESn.648_649insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
n.562_563insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
c.1174_1175insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu392delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
n.646_647insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
n.569_570insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA
c.1171_1172insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu391delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.742_743insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu248delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.1105_1106insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu369delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.1153_1154insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu385delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
c.904_905insGCTTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCA (p.Leu302delinsArgPheGluLeuCysLeuGlyValCysGlyValHisTyrProGlnAspAlaGlyArgGluLeuHisGlyTyrTyrProLeuPheSerIle)
2g.219421491T>ACA350694788DESn.649T>A
n.563T>A
c.1175T>A (p.Leu392His)
n.647T>A
n.570T>A
c.1172T>A (p.Leu391His)
c.743T>A (p.Leu248His)
c.1106T>A (p.Leu369His)
c.1154T>A (p.Leu385His)
c.905T>A (p.Leu302His)
2g.219421491T>CCA217027DESn.649T>C
n.563T>C
c.1175T>C (p.Leu392Pro)
n.647T>C
n.570T>C
c.1172T>C (p.Leu391Pro)
c.743T>C (p.Leu248Pro)
c.1106T>C (p.Leu369Pro)
c.1154T>C (p.Leu385Pro)
c.905T>C (p.Leu302Pro)
 ClinVar dbSNP
2g.219421491T>GCA350694793DESn.649T>G
n.563T>G
c.1175T>G (p.Leu392Arg)
n.647T>G
n.570T>G
c.1172T>G (p.Leu391Arg)
c.743T>G (p.Leu248Arg)
c.1106T>G (p.Leu369Arg)
c.1154T>G (p.Leu385Arg)
c.905T>G (p.Leu302Arg)
2g.219421491T=CA1329211319DESn.649T=
n.563T=
c.1175T= (p.Leu392=)
n.647T=
n.570T=
c.1172T= (p.Leu391=)
c.743T= (p.Leu248=)
c.1106T= (p.Leu369=)
c.1154T= (p.Leu385=)
c.905T= (p.Leu302=)
2g.219421491_219421492insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACA2560026055DESn.649_650insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
n.563_564insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
c.1175_1176insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn393ArgfsTer?)
n.647_648insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
n.570_571insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA
c.1172_1173insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn392ArgfsTer?)
c.743_744insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn249ArgfsTer?)
c.1106_1107insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn370ArgfsTer?)
c.1154_1155insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn386ArgfsTer?)
c.905_906insTCGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTACTATCCGCTCTTCTCCATCACGCA (p.Asn303ArgfsTer?)
2g.219421492C>ACA431284468DESn.650C>A
n.564C>A
c.1176C>A (p.Leu392=)
n.648C>A
n.571C>A
c.1173C>A (p.Leu391=)
c.744C>A (p.Leu248=)
c.1107C>A (p.Leu369=)
c.1155C>A (p.Leu385=)
c.906C>A (p.Leu302=)
2g.219421492C=CA1329211320DESn.650C=
n.564C=
c.1176C= (p.Leu392=)
n.648C=
n.571C=
c.1173C= (p.Leu391=)
c.744C= (p.Leu248=)
c.1107C= (p.Leu369=)
c.1155C= (p.Leu385=)
c.906C= (p.Leu302=)
2g.219421492C>GCA431284469DESn.650C>G
n.564C>G
c.1176C>G (p.Leu392=)
n.648C>G
n.571C>G
c.1173C>G (p.Leu391=)
c.744C>G (p.Leu248=)
c.1107C>G (p.Leu369=)
c.1155C>G (p.Leu385=)
c.906C>G (p.Leu302=)
 ClinVar dbSNP gnomAD v4
2g.219421492C>TCA431284470DESn.650C>T
n.564C>T
c.1176C>T (p.Leu392=)
n.648C>T
n.571C>T
c.1173C>T (p.Leu391=)
c.744C>T (p.Leu248=)
c.1107C>T (p.Leu369=)
c.1155C>T (p.Leu385=)
c.906C>T (p.Leu302=)
 gnomAD v3 gnomAD v4
2g.219421492_219421493insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCTCA2754326073DESn.650_651insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
n.564_565insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
c.1176_1177insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn393GlufsTer22)
n.648_649insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
n.571_572insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT
c.1173_1174insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn392GlufsTer22)
c.744_745insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn249GlufsTer22)
c.1107_1108insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn370GlufsTer22)
c.1155_1156insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn386GlufsTer22)
c.906_907insGAGCTGTGCCTCGGGGTCTGCGGCGTCCACTACCCCCAGGACGCCGGGCGGGAGCTGCACGGCT (p.Asn303GlufsTer22)
2g.219421493A>CCA350694801DESn.651A>C
n.565A>C
c.1177A>C (p.Asn393His)
n.649A>C
n.572A>C
c.1174A>C (p.Asn392His)
c.745A>C (p.Asn249His)
c.1108A>C (p.Asn370His)
c.1156A>C (p.Asn386His)
c.907A>C (p.Asn303His)
2g.219421493A>GCA350694804DESn.651A>G
n.565A>G
c.1177A>G (p.Asn393Asp)
n.649A>G
n.572A>G
c.1174A>G (p.Asn392Asp)
c.745A>G (p.Asn249Asp)
c.1108A>G (p.Asn370Asp)
c.1156A>G (p.Asn386Asp)
c.907A>G (p.Asn303Asp)
 gnomAD v4
2g.219421493A>TCA350694798DESn.651A>T
n.565A>T
c.1177A>T (p.Asn393Tyr)
n.649A>T
n.572A>T
c.1174A>T (p.Asn392Tyr)
c.745A>T (p.Asn249Tyr)
c.1108A>T (p.Asn370Tyr)
c.1156A>T (p.Asn386Tyr)
c.907A>T (p.Asn303Tyr)
2g.219421494A=CA1329211321DESn.652A=
n.566A=
c.1178A= (p.Asn393=)
n.650A=
n.573A=
c.1175A= (p.Asn392=)
c.746A= (p.Asn249=)
c.1109A= (p.Asn370=)
c.1157A= (p.Asn386=)
c.908A= (p.Asn303=)
2g.219421494A>CCA350694808DESn.652A>C
n.566A>C
c.1178A>C (p.Asn393Thr)
n.650A>C
n.573A>C
c.1175A>C (p.Asn392Thr)
c.746A>C (p.Asn249Thr)
c.1109A>C (p.Asn370Thr)
c.1157A>C (p.Asn386Thr)
c.908A>C (p.Asn303Thr)
2g.219421494A>GCA2125252DESn.652A>G
n.566A>G
c.1178A>G (p.Asn393Ser)
n.650A>G
n.573A>G
c.1175A>G (p.Asn392Ser)
c.746A>G (p.Asn249Ser)
c.1109A>G (p.Asn370Ser)
c.1157A>G (p.Asn386Ser)
c.908A>G (p.Asn303Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421494A>TCA217030DESn.652A>T
n.566A>T
c.1178A>T (p.Asn393Ile)
n.650A>T
n.573A>T
c.1175A>T (p.Asn392Ile)
c.746A>T (p.Asn249Ile)
c.1109A>T (p.Asn370Ile)
c.1157A>T (p.Asn386Ile)
c.908A>T (p.Asn303Ile)
 ClinVar dbSNP
2g.219421494_219421495insGCTGTGCCTCGGGGTCTGCGGCA2518076333DESn.652_653insGCTGTGCCTCGGGGTCTGCGG
n.566_567insGCTGTGCCTCGGGGTCTGCGG
c.1178_1179insGCTGTGCCTCGGGGTCTGCGG (p.Asn393delinsLysLeuCysLeuGlyValCysGly)
n.650_651insGCTGTGCCTCGGGGTCTGCGG
n.573_574insGCTGTGCCTCGGGGTCTGCGG
c.1175_1176insGCTGTGCCTCGGGGTCTGCGG (p.Asn392delinsLysLeuCysLeuGlyValCysGly)
c.746_747insGCTGTGCCTCGGGGTCTGCGG (p.Asn249delinsLysLeuCysLeuGlyValCysGly)
c.1109_1110insGCTGTGCCTCGGGGTCTGCGG (p.Asn370delinsLysLeuCysLeuGlyValCysGly)
c.1157_1158insGCTGTGCCTCGGGGTCTGCGG (p.Asn386delinsLysLeuCysLeuGlyValCysGly)
c.908_909insGCTGTGCCTCGGGGTCTGCGG (p.Asn303delinsLysLeuCysLeuGlyValCysGly)
2g.219421495C>ACA350694816DESn.653C>A
n.567C>A
c.1179C>A (p.Asn393Lys)
n.651C>A
n.574C>A
c.1176C>A (p.Asn392Lys)
c.747C>A (p.Asn249Lys)
c.1110C>A (p.Asn370Lys)
c.1158C>A (p.Asn386Lys)
c.909C>A (p.Asn303Lys)
2g.219421495C=CA1329211322DESn.653C=
n.567C=
c.1179C= (p.Asn393=)
n.651C=
n.574C=
c.1176C= (p.Asn392=)
c.747C= (p.Asn249=)
c.1110C= (p.Asn370=)
c.1158C= (p.Asn386=)
c.909C= (p.Asn303=)
2g.219421495C>GCA350694819DESn.653C>G
n.567C>G
c.1179C>G (p.Asn393Lys)
n.651C>G
n.574C>G
c.1176C>G (p.Asn392Lys)
c.747C>G (p.Asn249Lys)
c.1110C>G (p.Asn370Lys)
c.1158C>G (p.Asn386Lys)
c.909C>G (p.Asn303Lys)
2g.219421495C>TCA65983651DESn.653C>T
n.567C>T
c.1179C>T (p.Asn393=)
n.651C>T
n.574C>T
c.1176C>T (p.Asn392=)
c.747C>T (p.Asn249=)
c.1110C>T (p.Asn370=)
c.1158C>T (p.Asn386=)
c.909C>T (p.Asn303=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421496G>ACA2125253DESn.654G>A
n.568G>A
c.1180G>A (p.Val394Met)
n.652G>A
n.575G>A
c.1177G>A (p.Val393Met)
c.748G>A (p.Val250Met)
c.1111G>A (p.Val371Met)
c.1159G>A (p.Val387Met)
c.910G>A (p.Val304Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421496G>CCA350694824DESn.654G>C
n.568G>C
c.1180G>C (p.Val394Leu)
n.652G>C
n.575G>C
c.1177G>C (p.Val393Leu)
c.748G>C (p.Val250Leu)
c.1111G>C (p.Val371Leu)
c.1159G>C (p.Val387Leu)
c.910G>C (p.Val304Leu)
2g.219421496G=CA1329211323DESn.654G=
n.568G=
c.1180G= (p.Val394=)
n.652G=
n.575G=
c.1177G= (p.Val393=)
c.748G= (p.Val250=)
c.1111G= (p.Val371=)
c.1159G= (p.Val387=)
c.910G= (p.Val304=)
2g.219421496G>TCA350694836DESn.654G>T
n.568G>T
c.1180G>T (p.Val394Leu)
n.652G>T
n.575G>T
c.1177G>T (p.Val393Leu)
c.748G>T (p.Val250Leu)
c.1111G>T (p.Val371Leu)
c.1159G>T (p.Val387Leu)
c.910G>T (p.Val304Leu)
 ClinVar dbSNP
2g.219421497T>ACA350694841DESn.655T>A
n.569T>A
c.1181T>A (p.Val394Glu)
n.653T>A
n.576T>A
c.1178T>A (p.Val393Glu)
c.749T>A (p.Val250Glu)
c.1112T>A (p.Val371Glu)
c.1160T>A (p.Val387Glu)
c.911T>A (p.Val304Glu)
2g.219421497T>CCA350694844DESn.655T>C
n.569T>C
c.1181T>C (p.Val394Ala)
n.653T>C
n.576T>C
c.1178T>C (p.Val393Ala)
c.749T>C (p.Val250Ala)
c.1112T>C (p.Val371Ala)
c.1160T>C (p.Val387Ala)
c.911T>C (p.Val304Ala)
2g.219421497T>GCA350694846DESn.655T>G
n.569T>G
c.1181T>G (p.Val394Gly)
n.653T>G
n.576T>G
c.1178T>G (p.Val393Gly)
c.749T>G (p.Val250Gly)
c.1112T>G (p.Val371Gly)
c.1160T>G (p.Val387Gly)
c.911T>G (p.Val304Gly)
2g.219421497_219421498insCCACTACCCCCAGCA2533862773DESn.655_656insCCACTACCCCCAG
n.569_570insCCACTACCCCCAG
c.1181_1182insCCACTACCCCCAG (p.Lys395HisfsTer?)
n.653_654insCCACTACCCCCAG
n.576_577insCCACTACCCCCAG
c.1178_1179insCCACTACCCCCAG (p.Lys394HisfsTer?)
c.749_750insCCACTACCCCCAG (p.Lys251HisfsTer?)
c.1112_1113insCCACTACCCCCAG (p.Lys372HisfsTer?)
c.1160_1161insCCACTACCCCCAG (p.Lys388HisfsTer?)
c.911_912insCCACTACCCCCAG (p.Lys305HisfsTer?)
2g.219421498G>ACA431284471DESn.656G>A
n.570G>A
c.1182G>A (p.Val394=)
n.654G>A
n.577G>A
c.1179G>A (p.Val393=)
c.750G>A (p.Val250=)
c.1113G>A (p.Val371=)
c.1161G>A (p.Val387=)
c.912G>A (p.Val304=)
 dbSNP
2g.219421498G>CCA431284472DESn.656G>C
n.570G>C
c.1182G>C (p.Val394=)
n.654G>C
n.577G>C
c.1179G>C (p.Val393=)
c.750G>C (p.Val250=)
c.1113G>C (p.Val371=)
c.1161G>C (p.Val387=)
c.912G>C (p.Val304=)
 dbSNP
2g.219421498G=CA1329211324DESn.656G=
n.570G=
c.1182G= (p.Val394=)
n.654G=
n.577G=
c.1179G= (p.Val393=)
c.750G= (p.Val250=)
c.1113G= (p.Val371=)
c.1161G= (p.Val387=)
c.912G= (p.Val304=)
2g.219421498G>TCA431284473DESn.656G>T
n.570G>T
c.1182G>T (p.Val394=)
n.654G>T
n.577G>T
c.1179G>T (p.Val393=)
c.750G>T (p.Val250=)
c.1113G>T (p.Val371=)
c.1161G>T (p.Val387=)
c.912G>T (p.Val304=)
2g.219421499A>CCA350694854DESn.657A>C
n.571A>C
c.1183A>C (p.Lys395Gln)
n.655A>C
n.578A>C
c.1180A>C (p.Lys394Gln)
c.751A>C (p.Lys251Gln)
c.1114A>C (p.Lys372Gln)
c.1162A>C (p.Lys388Gln)
c.913A>C (p.Lys305Gln)
2g.219421499A>GCA350694857DESn.657A>G
n.571A>G
c.1183A>G (p.Lys395Glu)
n.655A>G
n.578A>G
c.1180A>G (p.Lys394Glu)
c.751A>G (p.Lys251Glu)
c.1114A>G (p.Lys372Glu)
c.1162A>G (p.Lys388Glu)
c.913A>G (p.Lys305Glu)
2g.219421499A>TCA350694852DESn.657A>T
n.571A>T
c.1183A>T (p.Lys395Ter)
n.655A>T
n.578A>T
c.1180A>T (p.Lys394Ter)
c.751A>T (p.Lys251Ter)
c.1114A>T (p.Lys372Ter)
c.1162A>T (p.Lys388Ter)
c.913A>T (p.Lys305Ter)
2g.219421499_219421500insCGCCGGGCGGGCA2508951310DESn.657_658insCGCCGGGCGGG
n.571_572insCGCCGGGCGGG
c.1183_1184insCGCCGGGCGGG (p.Lys395ThrfsTer?)
n.655_656insCGCCGGGCGGG
n.578_579insCGCCGGGCGGG
c.1180_1181insCGCCGGGCGGG (p.Lys394ThrfsTer?)
c.751_752insCGCCGGGCGGG (p.Lys251ThrfsTer?)
c.1114_1115insCGCCGGGCGGG (p.Lys372ThrfsTer?)
c.1162_1163insCGCCGGGCGGG (p.Lys388ThrfsTer?)
c.913_914insCGCCGGGCGGG (p.Lys305ThrfsTer?)
2g.219421500A>CCA350694861DESn.658A>C
n.572A>C
c.1184A>C (p.Lys395Thr)
n.656A>C
n.579A>C
c.1181A>C (p.Lys394Thr)
c.752A>C (p.Lys251Thr)
c.1115A>C (p.Lys372Thr)
c.1163A>C (p.Lys388Thr)
c.914A>C (p.Lys305Thr)
2g.219421500A>GCA350694864DESn.658A>G
n.572A>G
c.1184A>G (p.Lys395Arg)
n.656A>G
n.579A>G
c.1181A>G (p.Lys394Arg)
c.752A>G (p.Lys251Arg)
c.1115A>G (p.Lys372Arg)
c.1163A>G (p.Lys388Arg)
c.914A>G (p.Lys305Arg)
2g.219421500A>TCA350694865DESn.658A>T
n.572A>T
c.1184A>T (p.Lys395Met)
n.656A>T
n.579A>T
c.1181A>T (p.Lys394Met)
c.752A>T (p.Lys251Met)
c.1115A>T (p.Lys372Met)
c.1163A>T (p.Lys388Met)
c.914A>T (p.Lys305Met)
2g.219421501G>ACA431284474DESn.659G>A
n.573G>A
c.1185G>A (p.Lys395=)
n.657G>A
n.580G>A
c.1182G>A (p.Lys394=)
c.753G>A (p.Lys251=)
c.1116G>A (p.Lys372=)
c.1164G>A (p.Lys388=)
c.915G>A (p.Lys305=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.219421501G>CCA350694866DESn.659G>C
n.573G>C
c.1185G>C (p.Lys395Asn)
n.657G>C
n.580G>C
c.1182G>C (p.Lys394Asn)
c.753G>C (p.Lys251Asn)
c.1116G>C (p.Lys372Asn)
c.1164G>C (p.Lys388Asn)
c.915G>C (p.Lys305Asn)
2g.219421501G=CA1329211325DESn.659G=
n.573G=
c.1185G= (p.Lys395=)
n.657G=
n.580G=
c.1182G= (p.Lys394=)
c.753G= (p.Lys251=)
c.1116G= (p.Lys372=)
c.1164G= (p.Lys388=)
c.915G= (p.Lys305=)
2g.219421501G>TCA350694868DESn.659G>T
n.573G>T
c.1185G>T (p.Lys395Asn)
n.657G>T
n.580G>T
c.1182G>T (p.Lys394Asn)
c.753G>T (p.Lys251Asn)
c.1116G>T (p.Lys372Asn)
c.1164G>T (p.Lys388Asn)
c.915G>T (p.Lys305Asn)
2g.219421501_219421502insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTACCA2551911571DESn.659_660insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC
n.573_574insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC
c.1185_1186insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys395_Met396insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
n.657_658insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC
n.580_581insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC
c.1182_1183insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys394_Met395insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.753_754insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys251_Met252insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.1116_1117insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys372_Met373insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.1164_1165insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys388_Met389insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.915_916insCTGCACGGCTACTATCCGCTCTTCTCCATCACGCACAACCGGTAC (p.Lys305_Met306insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
2g.219421501_219421502insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTACCA2564216217DESn.659_660insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC
n.573_574insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC
c.1185_1186insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys395_Met396insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
n.657_658insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC
n.580_581insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC
c.1182_1183insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys394_Met395insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.753_754insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys251_Met252insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.1116_1117insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys372_Met373insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.1164_1165insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys388_Met389insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
c.915_916insCTGCACGGCTACTATCCGCTCTTCTCCATTACGCACAACCGGTAC (p.Lys305_Met306insLeuHisGlyTyrTyrProLeuPheSerIleThrHisAsnArgTyr)
2g.219421502A=CA1329211326DESn.660A=
n.574A=
c.1186A= (p.Met396=)
n.658A=
n.581A=
c.1183A= (p.Met395=)
c.754A= (p.Met252=)
c.1117A= (p.Met373=)
c.1165A= (p.Met389=)
c.916A= (p.Met306=)
2g.219421502A>CCA350694877DESn.660A>C
n.574A>C
c.1186A>C (p.Met396Leu)
n.658A>C
n.581A>C
c.1183A>C (p.Met395Leu)
c.754A>C (p.Met252Leu)
c.1117A>C (p.Met373Leu)
c.1165A>C (p.Met389Leu)
c.916A>C (p.Met306Leu)
2g.219421502A>GCA350694873DESn.660A>G
n.574A>G
c.1186A>G (p.Met396Val)
n.658A>G
n.581A>G
c.1183A>G (p.Met395Val)
c.754A>G (p.Met252Val)
c.1117A>G (p.Met373Val)
c.1165A>G (p.Met389Val)
c.916A>G (p.Met306Val)
 dbSNP
2g.219421502A>TCA350694874DESn.660A>T
n.574A>T
c.1186A>T (p.Met396Leu)
n.658A>T
n.581A>T
c.1183A>T (p.Met395Leu)
c.754A>T (p.Met252Leu)
c.1117A>T (p.Met373Leu)
c.1165A>T (p.Met389Leu)
c.916A>T (p.Met306Leu)
2g.219421503T>ACA350694882DESn.661T>A
n.575T>A
c.1187T>A (p.Met396Lys)
n.659T>A
n.582T>A
c.1184T>A (p.Met395Lys)
c.755T>A (p.Met252Lys)
c.1118T>A (p.Met373Lys)
c.1166T>A (p.Met389Lys)
c.917T>A (p.Met306Lys)
 gnomAD v4
2g.219421503T>CCA350694884DESn.661T>C
n.575T>C
c.1187T>C (p.Met396Thr)
n.659T>C
n.582T>C
c.1184T>C (p.Met395Thr)
c.755T>C (p.Met252Thr)
c.1118T>C (p.Met373Thr)
c.1166T>C (p.Met389Thr)
c.917T>C (p.Met306Thr)
 ClinVar gnomAD v4
2g.219421503T>GCA350694887DESn.661T>G
n.575T>G
c.1187T>G (p.Met396Arg)
n.659T>G
n.582T>G
c.1184T>G (p.Met395Arg)
c.755T>G (p.Met252Arg)
c.1118T>G (p.Met373Arg)
c.1166T>G (p.Met389Arg)
c.917T>G (p.Met306Arg)
2g.219421504G>ACA350694890DESn.662G>A
n.576G>A
c.1188G>A (p.Met396Ile)
n.660G>A
n.583G>A
c.1185G>A (p.Met395Ile)
c.756G>A (p.Met252Ile)
c.1119G>A (p.Met373Ile)
c.1167G>A (p.Met389Ile)
c.918G>A (p.Met306Ile)
2g.219421504G>CCA350694892DESn.662G>C
n.576G>C
c.1188G>C (p.Met396Ile)
n.660G>C
n.583G>C
c.1185G>C (p.Met395Ile)
c.756G>C (p.Met252Ile)
c.1119G>C (p.Met373Ile)
c.1167G>C (p.Met389Ile)
c.918G>C (p.Met306Ile)
2g.219421504G>TCA350694895DESn.662G>T
n.576G>T
c.1188G>T (p.Met396Ile)
n.660G>T
n.583G>T
c.1185G>T (p.Met395Ile)
c.756G>T (p.Met252Ile)
c.1119G>T (p.Met373Ile)
c.1167G>T (p.Met389Ile)
c.918G>T (p.Met306Ile)
2g.219421505G>ACA175623DESn.663G>A
n.577G>A
c.1189G>A (p.Ala397Thr)
n.661G>A
n.584G>A
c.1186G>A (p.Ala396Thr)
c.757G>A (p.Ala253Thr)
c.1120G>A (p.Ala374Thr)
c.1168G>A (p.Ala390Thr)
c.919G>A (p.Ala307Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219421505G>CCA350694904DESn.663G>C
n.577G>C
c.1189G>C (p.Ala397Pro)
n.661G>C
n.584G>C
c.1186G>C (p.Ala396Pro)
c.757G>C (p.Ala253Pro)
c.1120G>C (p.Ala374Pro)
c.1168G>C (p.Ala390Pro)
c.919G>C (p.Ala307Pro)
2g.219421505G=CA1329211327DESn.663G=
n.577G=
c.1189G= (p.Ala397=)
n.661G=
n.584G=
c.1186G= (p.Ala396=)
c.757G= (p.Ala253=)
c.1120G= (p.Ala374=)
c.1168G= (p.Ala390=)
c.919G= (p.Ala307=)
2g.219421505G>TCA350694898DESn.663G>T
n.577G>T
c.1189G>T (p.Ala397Ser)
n.661G>T
n.584G>T
c.1186G>T (p.Ala396Ser)
c.757G>T (p.Ala253Ser)
c.1120G>T (p.Ala374Ser)
c.1168G>T (p.Ala390Ser)
c.919G>T (p.Ala307Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.219421508_219421525delCA2586971384DESn.666_683del
n.580_597del
c.1192_1209del (p.Leu398_Ala403del)
n.664_681del
n.587_604del
c.1189_1206del (p.Leu397_Ala402del)
c.760_777del (p.Leu254_Ala259del)
c.1123_1140del (p.Leu375_Ala380del)
c.1171_1188del (p.Leu391_Ala396del)
c.922_939del (p.Leu308_Ala313del)
2g.219421506C>ACA350694907DESn.664C>A
n.578C>A
c.1190C>A (p.Ala397Asp)
n.662C>A
n.585C>A
c.1187C>A (p.Ala396Asp)
c.758C>A (p.Ala253Asp)
c.1121C>A (p.Ala374Asp)
c.1169C>A (p.Ala390Asp)
c.920C>A (p.Ala307Asp)
2g.219421506C>GCA350694910DESn.664C>G
n.578C>G
c.1190C>G (p.Ala397Gly)
n.662C>G
n.585C>G
c.1187C>G (p.Ala396Gly)
c.758C>G (p.Ala253Gly)
c.1121C>G (p.Ala374Gly)
c.1169C>G (p.Ala390Gly)
c.920C>G (p.Ala307Gly)
 gnomAD v4
2g.219421506C>TCA350694912DESn.664C>T
n.578C>T
c.1190C>T (p.Ala397Val)
n.662C>T
n.585C>T
c.1187C>T (p.Ala396Val)
c.758C>T (p.Ala253Val)
c.1121C>T (p.Ala374Val)
c.1169C>T (p.Ala390Val)
c.920C>T (p.Ala307Val)
2g.219421507C>ACA431284475DESn.665C>A
n.579C>A
c.1191C>A (p.Ala397=)
n.663C>A
n.586C>A
c.1188C>A (p.Ala396=)
c.759C>A (p.Ala253=)
c.1122C>A (p.Ala374=)
c.1170C>A (p.Ala390=)
c.921C>A (p.Ala307=)
2g.219421507C=CA1329211328DESn.665C=
n.579C=
c.1191C= (p.Ala397=)
n.663C=
n.586C=
c.1188C= (p.Ala396=)
c.759C= (p.Ala253=)
c.1122C= (p.Ala374=)
c.1170C= (p.Ala390=)
c.921C= (p.Ala307=)
2g.219421507C>GCA431284476DESn.665C>G
n.579C>G
c.1191C>G (p.Ala397=)
n.663C>G
n.586C>G
c.1188C>G (p.Ala396=)
c.759C>G (p.Ala253=)
c.1122C>G (p.Ala374=)
c.1170C>G (p.Ala390=)
c.921C>G (p.Ala307=)
2g.219421507C>TCA431284477DESn.665C>T
n.579C>T
c.1191C>T (p.Ala397=)
n.663C>T
n.586C>T
c.1188C>T (p.Ala396=)
c.759C>T (p.Ala253=)
c.1122C>T (p.Ala374=)
c.1170C>T (p.Ala390=)
c.921C>T (p.Ala307=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421508C>ACA350694914DESn.666C>A
n.580C>A
c.1192C>A (p.Leu398Met)
n.664C>A
n.587C>A
c.1189C>A (p.Leu397Met)
c.760C>A (p.Leu254Met)
c.1123C>A (p.Leu375Met)
c.1171C>A (p.Leu391Met)
c.922C>A (p.Leu308Met)
2g.219421508C=CA1329211329DESn.666C=
n.580C=
c.1192C= (p.Leu398=)
n.664C=
n.587C=
c.1189C= (p.Leu397=)
c.760C= (p.Leu254=)
c.1123C= (p.Leu375=)
c.1171C= (p.Leu391=)
c.922C= (p.Leu308=)
2g.219421508C>GCA350694916DESn.666C>G
n.580C>G
c.1192C>G (p.Leu398Val)
n.664C>G
n.587C>G
c.1189C>G (p.Leu397Val)
c.760C>G (p.Leu254Val)
c.1123C>G (p.Leu375Val)
c.1171C>G (p.Leu391Val)
c.922C>G (p.Leu308Val)
2g.219421508C>TCA431284478DESn.666C>T
n.580C>T
c.1192C>T (p.Leu398=)
n.664C>T
n.587C>T
c.1189C>T (p.Leu397=)
c.760C>T (p.Leu254=)
c.1123C>T (p.Leu375=)
c.1171C>T (p.Leu391=)
c.922C>T (p.Leu308=)
 dbSNP gnomAD v4
2g.219421509delCA2573135389DESn.667del
n.581del
c.1193del (p.Leu398ArgfsTer?)
n.665del
n.588del
c.1190del (p.Leu397ArgfsTer?)
c.761del (p.Leu254ArgfsTer?)
c.1124del (p.Leu375ArgfsTer?)
c.1172del (p.Leu391ArgfsTer?)
c.923del (p.Leu308ArgfsTer?)
 ClinVar dbSNP
2g.219421509T>ACA350694917DESn.667T>A
n.581T>A
c.1193T>A (p.Leu398Gln)
n.665T>A
n.588T>A
c.1190T>A (p.Leu397Gln)
c.761T>A (p.Leu254Gln)
c.1124T>A (p.Leu375Gln)
c.1172T>A (p.Leu391Gln)
c.923T>A (p.Leu308Gln)
2g.219421509T>CCA65983670DESn.667T>C
n.581T>C
c.1193T>C (p.Leu398Pro)
n.665T>C
n.588T>C
c.1190T>C (p.Leu397Pro)
c.761T>C (p.Leu254Pro)
c.1124T>C (p.Leu375Pro)
c.1172T>C (p.Leu391Pro)
c.923T>C (p.Leu308Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421509T>GCA350694920DESn.667T>G
n.581T>G
c.1193T>G (p.Leu398Arg)
n.665T>G
n.588T>G
c.1190T>G (p.Leu397Arg)
c.761T>G (p.Leu254Arg)
c.1124T>G (p.Leu375Arg)
c.1172T>G (p.Leu391Arg)
c.923T>G (p.Leu308Arg)
2g.219421509T=CA1329211330DESn.667T=
n.581T=
c.1193T= (p.Leu398=)
n.665T=
n.588T=
c.1190T= (p.Leu397=)
c.761T= (p.Leu254=)
c.1124T= (p.Leu375=)
c.1172T= (p.Leu391=)
c.923T= (p.Leu308=)
2g.219421510G>ACA431284479DESn.668G>A
n.582G>A
c.1194G>A (p.Leu398=)
n.666G>A
n.589G>A
c.1191G>A (p.Leu397=)
c.762G>A (p.Leu254=)
c.1125G>A (p.Leu375=)
c.1173G>A (p.Leu391=)
c.924G>A (p.Leu308=)
2g.219421510G>CCA431284480DESn.668G>C
n.582G>C
c.1194G>C (p.Leu398=)
n.666G>C
n.589G>C
c.1191G>C (p.Leu397=)
c.762G>C (p.Leu254=)
c.1125G>C (p.Leu375=)
c.1173G>C (p.Leu391=)
c.924G>C (p.Leu308=)
2g.219421510G>TCA431284481DESn.668G>T
n.582G>T
c.1194G>T (p.Leu398=)
n.666G>T
n.589G>T
c.1191G>T (p.Leu397=)
c.762G>T (p.Leu254=)
c.1125G>T (p.Leu375=)
c.1173G>T (p.Leu391=)
c.924G>T (p.Leu308=)
2g.219421511G>ACA350694922DESn.669G>A
n.583G>A
c.1195G>A (p.Asp399Asn)
n.667G>A
n.590G>A
c.1192G>A (p.Asp398Asn)
c.763G>A (p.Asp255Asn)
c.1126G>A (p.Asp376Asn)
c.1174G>A (p.Asp392Asn)
c.925G>A (p.Asp309Asn)
2g.219421511G>CCA350694924DESn.669G>C
n.583G>C
c.1195G>C (p.Asp399His)
n.667G>C
n.590G>C
c.1192G>C (p.Asp398His)
c.763G>C (p.Asp255His)
c.1126G>C (p.Asp376His)
c.1174G>C (p.Asp392His)
c.925G>C (p.Asp309His)
2g.219421511G=CA1329211331DESn.669G=
n.583G=
c.1195G= (p.Asp399=)
n.667G=
n.590G=
c.1192G= (p.Asp398=)
c.763G= (p.Asp255=)
c.1126G= (p.Asp376=)
c.1174G= (p.Asp392=)
c.925G= (p.Asp309=)
2g.219421511G>TCA217032DESn.669G>T
n.583G>T
c.1195G>T (p.Asp399Tyr)
n.667G>T
n.590G>T
c.1192G>T (p.Asp398Tyr)
c.763G>T (p.Asp255Tyr)
c.1126G>T (p.Asp376Tyr)
c.1174G>T (p.Asp392Tyr)
c.925G>T (p.Asp309Tyr)
 ClinVar dbSNP
2g.219421512A>CCA350694927DESn.670A>C
n.584A>C
c.1196A>C (p.Asp399Ala)
n.668A>C
n.591A>C
c.1193A>C (p.Asp398Ala)
c.764A>C (p.Asp255Ala)
c.1127A>C (p.Asp376Ala)
c.1175A>C (p.Asp392Ala)
c.926A>C (p.Asp309Ala)
2g.219421512A>GCA350694929DESn.670A>G
n.584A>G
c.1196A>G (p.Asp399Gly)
n.668A>G
n.591A>G
c.1193A>G (p.Asp398Gly)
c.764A>G (p.Asp255Gly)
c.1127A>G (p.Asp376Gly)
c.1175A>G (p.Asp392Gly)
c.926A>G (p.Asp309Gly)
 COSMIC
2g.219421512A>TCA350694931DESn.670A>T
n.584A>T
c.1196A>T (p.Asp399Val)
n.668A>T
n.591A>T
c.1193A>T (p.Asp398Val)
c.764A>T (p.Asp255Val)
c.1127A>T (p.Asp376Val)
c.1175A>T (p.Asp392Val)
c.926A>T (p.Asp309Val)
2g.219421513T>ACA350694934DESn.671T>A
n.585T>A
c.1197T>A (p.Asp399Glu)
n.669T>A
n.592T>A
c.1194T>A (p.Asp398Glu)
c.765T>A (p.Asp255Glu)
c.1128T>A (p.Asp376Glu)
c.1176T>A (p.Asp392Glu)
c.927T>A (p.Asp309Glu)
 gnomAD v4
2g.219421513T>CCA431284482DESn.671T>C
n.585T>C
c.1197T>C (p.Asp399=)
n.669T>C
n.592T>C
c.1194T>C (p.Asp398=)
c.765T>C (p.Asp255=)
c.1128T>C (p.Asp376=)
c.1176T>C (p.Asp392=)
c.927T>C (p.Asp309=)
 dbSNP
2g.219421513T>GCA2125254DESn.671T>G
n.585T>G
c.1197T>G (p.Asp399Glu)
n.669T>G
n.592T>G
c.1194T>G (p.Asp398Glu)
c.765T>G (p.Asp255Glu)
c.1128T>G (p.Asp376Glu)
c.1176T>G (p.Asp392Glu)
c.927T>G (p.Asp309Glu)
 dbSNP ExAC gnomAD v2
2g.219421513T=CA1329211332DESn.671T=
n.585T=
c.1197T= (p.Asp399=)
n.669T=
n.592T=
c.1194T= (p.Asp398=)
c.765T= (p.Asp255=)
c.1128T= (p.Asp376=)
c.1176T= (p.Asp392=)
c.927T= (p.Asp309=)
2g.219421514G>ACA350694937DESn.672G>A
n.586G>A
c.1198G>A (p.Val400Met)
n.670G>A
n.593G>A
c.1195G>A (p.Val399Met)
c.766G>A (p.Val256Met)
c.1129G>A (p.Val377Met)
c.1177G>A (p.Val393Met)
c.928G>A (p.Val310Met)
 gnomAD v4
2g.219421514G>CCA350694939DESn.672G>C
n.586G>C
c.1198G>C (p.Val400Leu)
n.670G>C
n.593G>C
c.1195G>C (p.Val399Leu)
c.766G>C (p.Val256Leu)
c.1129G>C (p.Val377Leu)
c.1177G>C (p.Val393Leu)
c.928G>C (p.Val310Leu)
2g.219421514G>TCA350694940DESn.672G>T
n.586G>T
c.1198G>T (p.Val400Leu)
n.670G>T
n.593G>T
c.1195G>T (p.Val399Leu)
c.766G>T (p.Val256Leu)
c.1129G>T (p.Val377Leu)
c.1177G>T (p.Val393Leu)
c.928G>T (p.Val310Leu)
2g.219421515T>ACA350694943DESn.673T>A
n.587T>A
c.1199T>A (p.Val400Glu)
n.671T>A
n.594T>A
c.1196T>A (p.Val399Glu)
c.767T>A (p.Val256Glu)
c.1130T>A (p.Val377Glu)
c.1178T>A (p.Val393Glu)
c.929T>A (p.Val310Glu)
2g.219421515T>CCA350694945DESn.673T>C
n.587T>C
c.1199T>C (p.Val400Ala)
n.671T>C
n.594T>C
c.1196T>C (p.Val399Ala)
c.767T>C (p.Val256Ala)
c.1130T>C (p.Val377Ala)
c.1178T>C (p.Val393Ala)
c.929T>C (p.Val310Ala)
2g.219421515T>GCA350694947DESn.673T>G
n.587T>G
c.1199T>G (p.Val400Gly)
n.671T>G
n.594T>G
c.1196T>G (p.Val399Gly)
c.767T>G (p.Val256Gly)
c.1130T>G (p.Val377Gly)
c.1178T>G (p.Val393Gly)
c.929T>G (p.Val310Gly)
2g.219421516G>ACA431284485DESn.674G>A
n.588G>A
c.1200G>A (p.Val400=)
n.672G>A
n.595G>A
c.1197G>A (p.Val399=)
c.768G>A (p.Val256=)
c.1131G>A (p.Val377=)
c.1179G>A (p.Val393=)
c.930G>A (p.Val310=)
 COSMIC
2g.219421516G>CCA431284484DESn.674G>C
n.588G>C
c.1200G>C (p.Val400=)
n.672G>C
n.595G>C
c.1197G>C (p.Val399=)
c.768G>C (p.Val256=)
c.1131G>C (p.Val377=)
c.1179G>C (p.Val393=)
c.930G>C (p.Val310=)
2g.219421516G>TCA431284483DESn.674G>T
n.588G>T
c.1200G>T (p.Val400=)
n.672G>T
n.595G>T
c.1197G>T (p.Val399=)
c.768G>T (p.Val256=)
c.1131G>T (p.Val377=)
c.1179G>T (p.Val393=)
c.930G>T (p.Val310=)
2g.219421517G>ACA284671DESn.675G>A
n.589G>A
c.1201G>A (p.Glu401Lys)
n.673G>A
n.596G>A
c.1198G>A (p.Glu400Lys)
c.769G>A (p.Glu257Lys)
c.1132G>A (p.Glu378Lys)
c.1180G>A (p.Glu394Lys)
c.931G>A (p.Glu311Lys)
 ClinVar dbSNP
2g.219421517G>CCA350694949DESn.675G>C
n.589G>C
c.1201G>C (p.Glu401Gln)
n.673G>C
n.596G>C
c.1198G>C (p.Glu400Gln)
c.769G>C (p.Glu257Gln)
c.1132G>C (p.Glu378Gln)
c.1180G>C (p.Glu394Gln)
c.931G>C (p.Glu311Gln)
2g.219421517G=CA1329211333DESn.675G=
n.589G=
c.1201G= (p.Glu401=)
n.673G=
n.596G=
c.1198G= (p.Glu400=)
c.769G= (p.Glu257=)
c.1132G= (p.Glu378=)
c.1180G= (p.Glu394=)
c.931G= (p.Glu311=)
2g.219421517G>TCA350694952DESn.675G>T
n.589G>T
c.1201G>T (p.Glu401Ter)
n.673G>T
n.596G>T
c.1198G>T (p.Glu400Ter)
c.769G>T (p.Glu257Ter)
c.1132G>T (p.Glu378Ter)
c.1180G>T (p.Glu394Ter)
c.931G>T (p.Glu311Ter)
2g.219421518A=CA1329211334DESn.676A=
n.590A=
c.1202A= (p.Glu401=)
n.674A=
n.597A=
c.1199A= (p.Glu400=)
c.770A= (p.Glu257=)
c.1133A= (p.Glu378=)
c.1181A= (p.Glu394=)
c.932A= (p.Glu311=)
2g.219421518A>CCA350694955DESn.676A>C
n.590A>C
c.1202A>C (p.Glu401Ala)
n.674A>C
n.597A>C
c.1199A>C (p.Glu400Ala)
c.770A>C (p.Glu257Ala)
c.1133A>C (p.Glu378Ala)
c.1181A>C (p.Glu394Ala)
c.932A>C (p.Glu311Ala)
2g.219421518A>GCA350694957DESn.676A>G
n.590A>G
c.1202A>G (p.Glu401Gly)
n.674A>G
n.597A>G
c.1199A>G (p.Glu400Gly)
c.770A>G (p.Glu257Gly)
c.1133A>G (p.Glu378Gly)
c.1181A>G (p.Glu394Gly)
c.932A>G (p.Glu311Gly)
 ClinVar dbSNP
2g.219421518A>TCA350694959DESn.676A>T
n.590A>T
c.1202A>T (p.Glu401Val)
n.674A>T
n.597A>T
c.1199A>T (p.Glu400Val)
c.770A>T (p.Glu257Val)
c.1133A>T (p.Glu378Val)
c.1181A>T (p.Glu394Val)
c.932A>T (p.Glu311Val)
2g.219421519G>ACA431284486DESn.677G>A
n.591G>A
c.1203G>A (p.Glu401=)
n.675G>A
n.598G>A
c.1200G>A (p.Glu400=)
c.771G>A (p.Glu257=)
c.1134G>A (p.Glu378=)
c.1182G>A (p.Glu394=)
c.933G>A (p.Glu311=)
 gnomAD v4
2g.219421519G>CCA350694961DESn.677G>C
n.591G>C
c.1203G>C (p.Glu401Asp)
n.675G>C
n.598G>C
c.1200G>C (p.Glu400Asp)
c.771G>C (p.Glu257Asp)
c.1134G>C (p.Glu378Asp)
c.1182G>C (p.Glu394Asp)
c.933G>C (p.Glu311Asp)
 ClinVar dbSNP
2g.219421519G>TCA350694963DESn.677G>T
n.591G>T
c.1203G>T (p.Glu401Asp)
n.675G>T
n.598G>T
c.1200G>T (p.Glu400Asp)
c.771G>T (p.Glu257Asp)
c.1134G>T (p.Glu378Asp)
c.1182G>T (p.Glu394Asp)
c.933G>T (p.Glu311Asp)
2g.219421520A>CCA350694966DESn.678A>C
n.592A>C
c.1204A>C (p.Ile402Leu)
n.676A>C
n.599A>C
c.1201A>C (p.Ile401Leu)
c.772A>C (p.Ile258Leu)
c.1135A>C (p.Ile379Leu)
c.1183A>C (p.Ile395Leu)
c.934A>C (p.Ile312Leu)
2g.219421520A>GCA350694969DESn.678A>G
n.592A>G
c.1204A>G (p.Ile402Val)
n.676A>G
n.599A>G
c.1201A>G (p.Ile401Val)
c.772A>G (p.Ile258Val)
c.1135A>G (p.Ile379Val)
c.1183A>G (p.Ile395Val)
c.934A>G (p.Ile312Val)
2g.219421520A>TCA350694968DESn.678A>T
n.592A>T
c.1204A>T (p.Ile402Phe)
n.676A>T
n.599A>T
c.1201A>T (p.Ile401Phe)
c.772A>T (p.Ile258Phe)
c.1135A>T (p.Ile379Phe)
c.1183A>T (p.Ile395Phe)
c.934A>T (p.Ile312Phe)
 ClinVar
2g.219421521T>ACA350694971DESn.679T>A
n.593T>A
c.1205T>A (p.Ile402Asn)
n.677T>A
n.600T>A
c.1202T>A (p.Ile401Asn)
c.773T>A (p.Ile258Asn)
c.1136T>A (p.Ile379Asn)
c.1184T>A (p.Ile395Asn)
c.935T>A (p.Ile312Asn)
2g.219421521T>CCA308278DESn.679T>C
n.593T>C
c.1205T>C (p.Ile402Thr)
n.677T>C
n.600T>C
c.1202T>C (p.Ile401Thr)
c.773T>C (p.Ile258Thr)
c.1136T>C (p.Ile379Thr)
c.1184T>C (p.Ile395Thr)
c.935T>C (p.Ile312Thr)
 ClinVar dbSNP
2g.219421521T>GCA350694974DESn.679T>G
n.593T>G
c.1205T>G (p.Ile402Ser)
n.677T>G
n.600T>G
c.1202T>G (p.Ile401Ser)
c.773T>G (p.Ile258Ser)
c.1136T>G (p.Ile379Ser)
c.1184T>G (p.Ile395Ser)
c.935T>G (p.Ile312Ser)
 ClinVar dbSNP
2g.219421521T=CA1329211335DESn.679T=
n.593T=
c.1205T= (p.Ile402=)
n.677T=
n.600T=
c.1202T= (p.Ile401=)
c.773T= (p.Ile258=)
c.1136T= (p.Ile379=)
c.1184T= (p.Ile395=)
c.935T= (p.Ile312=)
2g.219421522T>ACA431284487DESn.680T>A
n.594T>A
c.1206T>A (p.Ile402=)
n.678T>A
n.601T>A
c.1203T>A (p.Ile401=)
c.774T>A (p.Ile258=)
c.1137T>A (p.Ile379=)
c.1185T>A (p.Ile395=)
c.936T>A (p.Ile312=)
2g.219421522T>CCA431284488DESn.680T>C
n.594T>C
c.1206T>C (p.Ile402=)
n.678T>C
n.601T>C
c.1203T>C (p.Ile401=)
c.774T>C (p.Ile258=)
c.1137T>C (p.Ile379=)
c.1185T>C (p.Ile395=)
c.936T>C (p.Ile312=)
2g.219421522T>GCA350694976DESn.680T>G
n.594T>G
c.1206T>G (p.Ile402Met)
n.678T>G
n.601T>G
c.1203T>G (p.Ile401Met)
c.774T>G (p.Ile258Met)
c.1137T>G (p.Ile379Met)
c.1185T>G (p.Ile395Met)
c.936T>G (p.Ile312Met)
2g.219421523G>ACA350694979DESn.681G>A
n.595G>A
c.1207G>A (p.Ala403Thr)
n.679G>A
n.602G>A
c.1204G>A (p.Ala402Thr)
c.775G>A (p.Ala259Thr)
c.1138G>A (p.Ala380Thr)
c.1186G>A (p.Ala396Thr)
c.937G>A (p.Ala313Thr)
2g.219421523G>CCA350694980DESn.681G>C
n.595G>C
c.1207G>C (p.Ala403Pro)
n.679G>C
n.602G>C
c.1204G>C (p.Ala402Pro)
c.775G>C (p.Ala259Pro)
c.1138G>C (p.Ala380Pro)
c.1186G>C (p.Ala396Pro)
c.937G>C (p.Ala313Pro)
 gnomAD v4
2g.219421523G>TCA350694982DESn.681G>T
n.595G>T
c.1207G>T (p.Ala403Ser)
n.679G>T
n.602G>T
c.1204G>T (p.Ala402Ser)
c.775G>T (p.Ala259Ser)
c.1138G>T (p.Ala380Ser)
c.1186G>T (p.Ala396Ser)
c.937G>T (p.Ala313Ser)
 gnomAD v4
2g.219421524C>ACA350694984DESn.682C>A
n.596C>A
c.1208C>A (p.Ala403Asp)
n.680C>A
n.603C>A
c.1205C>A (p.Ala402Asp)
c.776C>A (p.Ala259Asp)
c.1139C>A (p.Ala380Asp)
c.1187C>A (p.Ala396Asp)
c.938C>A (p.Ala313Asp)
 ClinVar
2g.219421524C>GCA350694987DESn.682C>G
n.596C>G
c.1208C>G (p.Ala403Gly)
n.680C>G
n.603C>G
c.1205C>G (p.Ala402Gly)
c.776C>G (p.Ala259Gly)
c.1139C>G (p.Ala380Gly)
c.1187C>G (p.Ala396Gly)
c.938C>G (p.Ala313Gly)
2g.219421524C>TCA350694986DESn.682C>T
n.596C>T
c.1208C>T (p.Ala403Val)
n.680C>T
n.603C>T
c.1205C>T (p.Ala402Val)
c.776C>T (p.Ala259Val)
c.1139C>T (p.Ala380Val)
c.1187C>T (p.Ala396Val)
c.938C>T (p.Ala313Val)
 gnomAD v4
2g.219421525C>ACA431284489DESn.683C>A
n.597C>A
c.1209C>A (p.Ala403=)
n.681C>A
n.604C>A
c.1206C>A (p.Ala402=)
c.777C>A (p.Ala259=)
c.1140C>A (p.Ala380=)
c.1188C>A (p.Ala396=)
c.939C>A (p.Ala313=)
2g.219421525C=CA1329211336DESn.683C=
n.597C=
c.1209C= (p.Ala403=)
n.681C=
n.604C=
c.1206C= (p.Ala402=)
c.777C= (p.Ala259=)
c.1140C= (p.Ala380=)
c.1188C= (p.Ala396=)
c.939C= (p.Ala313=)
2g.219421525C>GCA431284490DESn.683C>G
n.597C>G
c.1209C>G (p.Ala403=)
n.681C>G
n.604C>G
c.1206C>G (p.Ala402=)
c.777C>G (p.Ala259=)
c.1140C>G (p.Ala380=)
c.1188C>G (p.Ala396=)
c.939C>G (p.Ala313=)
2g.219421525C>TCA2125255DESn.683C>T
n.597C>T
c.1209C>T (p.Ala403=)
n.681C>T
n.604C>T
c.1206C>T (p.Ala402=)
c.777C>T (p.Ala259=)
c.1140C>T (p.Ala380=)
c.1188C>T (p.Ala396=)
c.939C>T (p.Ala313=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.219421526A=CA1329211337DESn.684A=
n.598A=
c.1210A= (p.Thr404=)
n.682A=
n.605A=
c.1207A= (p.Thr403=)
c.778A= (p.Thr260=)
c.1141A= (p.Thr381=)
c.1189A= (p.Thr397=)
c.940A= (p.Thr314=)
2g.219421526A>CCA350694990DESn.684A>C
n.598A>C
c.1210A>C (p.Thr404Pro)
n.682A>C
n.605A>C
c.1207A>C (p.Thr403Pro)
c.778A>C (p.Thr260Pro)
c.1141A>C (p.Thr381Pro)
c.1189A>C (p.Thr397Pro)
c.940A>C (p.Thr314Pro)
2g.219421526A>GCA350694992DESn.684A>G
n.598A>G
c.1210A>G (p.Thr404Ala)
n.682A>G
n.605A>G
c.1207A>G (p.Thr403Ala)
c.778A>G (p.Thr260Ala)
c.1141A>G (p.Thr381Ala)
c.1189A>G (p.Thr397Ala)
c.940A>G (p.Thr314Ala)
 dbSNP gnomAD v4
2g.219421526A>TCA350694994DESn.684A>T
n.598A>T
c.1210A>T (p.Thr404Ser)
n.682A>T
n.605A>T
c.1207A>T (p.Thr403Ser)
c.778A>T (p.Thr260Ser)
c.1141A>T (p.Thr381Ser)
c.1189A>T (p.Thr397Ser)
c.940A>T (p.Thr314Ser)
2g.219421527C>ACA350694996DESn.685C>A
n.599C>A
c.1211C>A (p.Thr404Asn)
n.683C>A
n.606C>A
c.1208C>A (p.Thr403Asn)
c.779C>A (p.Thr260Asn)
c.1142C>A (p.Thr381Asn)
c.1190C>A (p.Thr397Asn)
c.941C>A (p.Thr314Asn)
2g.219421527C>GCA350694998DESn.685C>G
n.599C>G
c.1211C>G (p.Thr404Ser)
n.683C>G
n.606C>G
c.1208C>G (p.Thr403Ser)
c.779C>G (p.Thr260Ser)
c.1142C>G (p.Thr381Ser)
c.1190C>G (p.Thr397Ser)
c.941C>G (p.Thr314Ser)
2g.219421527C>TCA350694997DESn.685C>T
n.599C>T
c.1211C>T (p.Thr404Ile)
n.683C>T
n.606C>T
c.1208C>T (p.Thr403Ile)
c.779C>T (p.Thr260Ile)
c.1142C>T (p.Thr381Ile)
c.1190C>T (p.Thr397Ile)
c.941C>T (p.Thr314Ile)
2g.219421528C>ACA431284491DESn.686C>A
n.600C>A
c.1212C>A (p.Thr404=)
n.684C>A
n.607C>A
c.1209C>A (p.Thr403=)
c.780C>A (p.Thr260=)
c.1143C>A (p.Thr381=)
c.1191C>A (p.Thr397=)
c.942C>A (p.Thr314=)
2g.219421528C>GCA431284492DESn.686C>G
n.600C>G
c.1212C>G (p.Thr404=)
n.684C>G
n.607C>G
c.1209C>G (p.Thr403=)
c.780C>G (p.Thr260=)
c.1143C>G (p.Thr381=)
c.1191C>G (p.Thr397=)
c.942C>G (p.Thr314=)
2g.219421528C>TCA431284493DESn.686C>T
n.600C>T
c.1212C>T (p.Thr404=)
n.684C>T
n.607C>T
c.1209C>T (p.Thr403=)
c.780C>T (p.Thr260=)
c.1143C>T (p.Thr381=)
c.1191C>T (p.Thr397=)
c.942C>T (p.Thr314=)
2g.219421528_219421529delinsCTCA1329211338DESn.686_687delinsCT
n.600_601delinsCT
c.1212_1213delinsCT (p.Thr404=)
n.684_685delinsCT
n.607_608delinsCT
c.1209_1210delinsCT (p.Thr403=)
c.780_781delinsCT (p.Thr260=)
c.1143_1144delinsCT (p.Thr381=)
c.1191_1192delinsCT (p.Thr397=)
c.942_943delinsCT (p.Thr314=)
2g.219421529delCA10605083DESn.687del
n.601del
c.1213del (p.Tyr405ThrfsTer?)
n.685del
n.608del
c.1210del (p.Tyr404ThrfsTer?)
c.781del (p.Tyr261ThrfsTer?)
c.1144del (p.Tyr382ThrfsTer?)
c.1192del (p.Tyr398ThrfsTer?)
c.943del (p.Tyr315ThrfsTer?)
 ClinVar dbSNP
2g.219421529T>ACA350694999DESn.687T>A
n.601T>A
c.1213T>A (p.Tyr405Asn)
n.685T>A
n.608T>A
c.1210T>A (p.Tyr404Asn)
c.781T>A (p.Tyr261Asn)
c.1144T>A (p.Tyr382Asn)
c.1192T>A (p.Tyr398Asn)
c.943T>A (p.Tyr315Asn)
 COSMIC
2g.219421529T>CCA350695000DESn.687T>C
n.601T>C
c.1213T>C (p.Tyr405His)
n.685T>C
n.608T>C
c.1210T>C (p.Tyr404His)
c.781T>C (p.Tyr261His)
c.1144T>C (p.Tyr382His)
c.1192T>C (p.Tyr398His)
c.943T>C (p.Tyr315His)
2g.219421529T>GCA350695001DESn.687T>G
n.601T>G
c.1213T>G (p.Tyr405Asp)
n.685T>G
n.608T>G
c.1210T>G (p.Tyr404Asp)
c.781T>G (p.Tyr261Asp)
c.1144T>G (p.Tyr382Asp)
c.1192T>G (p.Tyr398Asp)
c.943T>G (p.Tyr315Asp)
2g.219421530A>CCA350695004DESn.688A>C
n.602A>C
c.1214A>C (p.Tyr405Ser)
n.686A>C
n.609A>C
c.1211A>C (p.Tyr404Ser)
c.782A>C (p.Tyr261Ser)
c.1145A>C (p.Tyr382Ser)
c.1193A>C (p.Tyr398Ser)
c.944A>C (p.Tyr315Ser)
 ClinVar dbSNP
2g.219421530A>GCA350695006DESn.688A>G
n.602A>G
c.1214A>G (p.Tyr405Cys)
n.686A>G
n.609A>G
c.1211A>G (p.Tyr404Cys)
c.782A>G (p.Tyr261Cys)
c.1145A>G (p.Tyr382Cys)
c.1193A>G (p.Tyr398Cys)
c.944A>G (p.Tyr315Cys)
2g.219421530A>TCA350695008DESn.688A>T
n.602A>T
c.1214A>T (p.Tyr405Phe)
n.686A>T
n.609A>T
c.1211A>T (p.Tyr404Phe)
c.782A>T (p.Tyr261Phe)
c.1145A>T (p.Tyr382Phe)
c.1193A>T (p.Tyr398Phe)
c.944A>T (p.Tyr315Phe)
2g.219421531C>ACA350695010DESn.689C>A
n.603C>A
c.1215C>A (p.Tyr405Ter)
n.687C>A
n.610C>A
c.1212C>A (p.Tyr404Ter)
c.783C>A (p.Tyr261Ter)
c.1146C>A (p.Tyr382Ter)
c.1194C>A (p.Tyr398Ter)
c.945C>A (p.Tyr315Ter)
2g.219421531C=CA1329211339DESn.689C=
n.603C=
c.1215C= (p.Tyr405=)
n.687C=
n.610C=
c.1212C= (p.Tyr404=)
c.783C= (p.Tyr261=)
c.1146C= (p.Tyr382=)
c.1194C= (p.Tyr398=)
c.945C= (p.Tyr315=)
2g.219421531C>GCA350695011DESn.689C>G
n.603C>G
c.1215C>G (p.Tyr405Ter)
n.687C>G
n.610C>G
c.1212C>G (p.Tyr404Ter)
c.783C>G (p.Tyr261Ter)
c.1146C>G (p.Tyr382Ter)
c.1194C>G (p.Tyr398Ter)
c.945C>G (p.Tyr315Ter)
2g.219421531C>TCA431284494DESn.689C>T
n.603C>T
c.1215C>T (p.Tyr405=)
n.687C>T
n.610C>T
c.1212C>T (p.Tyr404=)
c.783C>T (p.Tyr261=)
c.1146C>T (p.Tyr382=)
c.1194C>T (p.Tyr398=)
c.945C>T (p.Tyr315=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.219421532C>ACA431284495DESn.690C>A
n.604C>A
c.1216C>A (p.Arg406=)
n.688C>A
n.611C>A
c.1213C>A (p.Arg405=)
c.784C>A (p.Arg262=)
c.1147C>A (p.Arg383=)
c.1195C>A (p.Arg399=)
c.946C>A (p.Arg316=)
 gnomAD v4
2g.219421532C=CA1329211340DESn.690C=
n.604C=
c.1216C= (p.Arg406=)
n.688C=
n.611C=
c.1213C= (p.Arg405=)
c.784C= (p.Arg262=)
c.1147C= (p.Arg383=)
c.1195C= (p.Arg399=)
c.946C= (p.Arg316=)
2g.219421532C>GCA350695014DESn.690C>G
n.604C>G
c.1216C>G (p.Arg406Gly)
n.688C>G
n.611C>G
c.1213C>G (p.Arg405Gly)
c.784C>G (p.Arg262Gly)
c.1147C>G (p.Arg383Gly)
c.1195C>G (p.Arg399Gly)
c.946C>G (p.Arg316Gly)
2g.219421532C>TCA257646DESn.690C>T
n.604C>T
c.1216C>T (p.Arg406Trp)
n.688C>T
n.611C>T
c.1213C>T (p.Arg405Trp)
c.784C>T (p.Arg262Trp)
c.1147C>T (p.Arg383Trp)
c.1195C>T (p.Arg399Trp)
c.946C>T (p.Arg316Trp)
 ClinVar dbSNP
2g.219421533G>ACA16604146DESn.691G>A
n.605G>A
c.1217G>A (p.Arg406Gln)
n.689G>A
n.612G>A
c.1214G>A (p.Arg405Gln)
c.785G>A (p.Arg262Gln)
c.1148G>A (p.Arg383Gln)
c.1196G>A (p.Arg399Gln)
c.947G>A (p.Arg316Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.219421533G>CCA350695020DESn.691G>C
n.605G>C
c.1217G>C (p.Arg406Pro)
n.689G>C
n.612G>C
c.1214G>C (p.Arg405Pro)
c.785G>C (p.Arg262Pro)
c.1148G>C (p.Arg383Pro)
c.1196G>C (p.Arg399Pro)
c.947G>C (p.Arg316Pro)
 ClinVar
2g.219421533G=CA1329211341DESn.691G=
n.605G=
c.1217G= (p.Arg406=)
n.689G=
n.612G=
c.1214G= (p.Arg405=)
c.785G= (p.Arg262=)
c.1148G= (p.Arg383=)
c.1196G= (p.Arg399=)
c.947G= (p.Arg316=)
2g.219421533G>TCA350695018DESn.691G>T
n.605G>T
c.1217G>T (p.Arg406Leu)
n.689G>T
n.612G>T
c.1214G>T (p.Arg405Leu)
c.785G>T (p.Arg262Leu)
c.1148G>T (p.Arg383Leu)
c.1196G>T (p.Arg399Leu)
c.947G>T (p.Arg316Leu)
 ClinVar dbSNP
2g.219421534G>ACA431284496DESn.692G>A
n.606G>A
c.1218G>A (p.Arg406=)
n.690G>A
n.613G>A
c.1215G>A (p.Arg405=)
c.786G>A (p.Arg262=)
c.1149G>A (p.Arg383=)
c.1197G>A (p.Arg399=)
c.948G>A (p.Arg316=)
2g.219421534G>CCA431284497DESn.692G>C
n.606G>C
c.1218G>C (p.Arg406=)
n.690G>C
n.613G>C
c.1215G>C (p.Arg405=)
c.786G>C (p.Arg262=)
c.1149G>C (p.Arg383=)
c.1197G>C (p.Arg399=)
c.948G>C (p.Arg316=)
 ClinVar
2g.219421534G>TCA431284498DESn.692G>T
n.606G>T
c.1218G>T (p.Arg406=)
n.690G>T
n.613G>T
c.1215G>T (p.Arg405=)
c.786G>T (p.Arg262=)
c.1149G>T (p.Arg383=)
c.1197G>T (p.Arg399=)
c.948G>T (p.Arg316=)
 ClinVar
2g.219421535A=CA1329211342DESn.693A=
n.607A=
c.1219A= (p.Lys407=)
n.691A=
n.614A=
c.1216A= (p.Lys406=)
c.787A= (p.Lys263=)
c.1150A= (p.Lys384=)
c.1198A= (p.Lys400=)
c.949A= (p.Lys317=)
2g.219421535A>CCA350695023DESn.693A>C
n.607A>C
c.1219A>C (p.Lys407Gln)
n.691A>C
n.614A>C
c.1216A>C (p.Lys406Gln)
c.787A>C (p.Lys263Gln)
c.1150A>C (p.Lys384Gln)
c.1198A>C (p.Lys400Gln)
c.949A>C (p.Lys317Gln)
 ClinVar dbSNP gnomAD v4
2g.219421535A>GCA350695027DESn.693A>G
n.607A>G
c.1219A>G (p.Lys407Glu)
n.691A>G
n.614A>G
c.1216A>G (p.Lys406Glu)
c.787A>G (p.Lys263Glu)
c.1150A>G (p.Lys384Glu)
c.1198A>G (p.Lys400Glu)
c.949A>G (p.Lys317Glu)
2g.219421535A>TCA350695025DESn.693A>T
n.607A>T
c.1219A>T (p.Lys407Ter)
n.691A>T
n.614A>T
c.1216A>T (p.Lys406Ter)
c.787A>T (p.Lys263Ter)
c.1150A>T (p.Lys384Ter)
c.1198A>T (p.Lys400Ter)
c.949A>T (p.Lys317Ter)
2g.219421536A>CCA350695029DESn.694A>C
n.608A>C
c.1220A>C (p.Lys407Thr)
n.692A>C
n.615A>C
c.1217A>C (p.Lys406Thr)
c.788A>C (p.Lys263Thr)
c.1151A>C (p.Lys384Thr)
c.1199A>C (p.Lys400Thr)
c.950A>C (p.Lys317Thr)
2g.219421536A>GCA350695033DESn.694A>G
n.608A>G
c.1220A>G (p.Lys407Arg)
n.692A>G
n.615A>G
c.1217A>G (p.Lys406Arg)
c.788A>G (p.Lys263Arg)
c.1151A>G (p.Lys384Arg)
c.1199A>G (p.Lys400Arg)
c.950A>G (p.Lys317Arg)
2g.219421536A>TCA350695031DESn.694A>T
n.608A>T
c.1220A>T (p.Lys407Met)
n.692A>T
n.615A>T
c.1217A>T (p.Lys406Met)
c.788A>T (p.Lys263Met)
c.1151A>T (p.Lys384Met)
c.1199A>T (p.Lys400Met)
c.950A>T (p.Lys317Met)
2g.219421537G>ACA431284499DESn.695G>A
n.609G>A
c.1221G>A (p.Lys407=)
n.693G>A
n.616G>A
c.1218G>A (p.Lys406=)
c.789G>A (p.Lys263=)
c.1152G>A (p.Lys384=)
c.1200G>A (p.Lys400=)
c.951G>A (p.Lys317=)
2g.219421537G>CCA350695036DESn.695G>C
n.609G>C
c.1221G>C (p.Lys407Asn)
n.693G>C
n.616G>C
c.1218G>C (p.Lys406Asn)
c.789G>C (p.Lys263Asn)
c.1152G>C (p.Lys384Asn)
c.1200G>C (p.Lys400Asn)
c.951G>C (p.Lys317Asn)
2g.219421537G>TCA350695037DESn.695G>T
n.609G>T
c.1221G>T (p.Lys407Asn)
n.693G>T
n.616G>T
c.1218G>T (p.Lys406Asn)
c.789G>T (p.Lys263Asn)
c.1152G>T (p.Lys384Asn)
c.1200G>T (p.Lys400Asn)
c.951G>T (p.Lys317Asn)
2g.219421538C>ACA350695039DESn.696C>A
n.610C>A
c.1222C>A (p.Leu408Met)
n.694C>A
n.617C>A
c.1219C>A (p.Leu407Met)
c.790C>A (p.Leu264Met)
c.1153C>A (p.Leu385Met)
c.1201C>A (p.Leu401Met)
c.952C>A (p.Leu318Met)
2g.219421538C>GCA350695040DESn.696C>G
n.610C>G
c.1222C>G (p.Leu408Val)
n.694C>G
n.617C>G
c.1219C>G (p.Leu407Val)
c.790C>G (p.Leu264Val)
c.1153C>G (p.Leu385Val)
c.1201C>G (p.Leu401Val)
c.952C>G (p.Leu318Val)
2g.219421538C>TCA431284500DESn.696C>T
n.610C>T
c.1222C>T (p.Leu408=)
n.694C>T
n.617C>T
c.1219C>T (p.Leu407=)
c.790C>T (p.Leu264=)
c.1153C>T (p.Leu385=)
c.1201C>T (p.Leu401=)
c.952C>T (p.Leu318=)
2g.219421538_219421539delinsCTCA1329211343DESn.696_697delinsCT
n.610_611delinsCT
c.1222_1223delinsCT (p.Leu408=)
n.694_695delinsCT
n.617_618delinsCT
c.1219_1220delinsCT (p.Leu407=)
c.790_791delinsCT (p.Leu264=)
c.1153_1154delinsCT (p.Leu385=)
c.1201_1202delinsCT (p.Leu401=)
c.952_953delinsCT (p.Leu318=)
2g.219421539delCA10602840DESn.697del
n.611del
c.1223del (p.Leu408ArgfsTer?)
n.695del
n.618del
c.1220del (p.Leu407ArgfsTer?)
c.791del (p.Leu264ArgfsTer?)
c.1154del (p.Leu385ArgfsTer?)
c.1202del (p.Leu401ArgfsTer?)
c.953del (p.Leu318ArgfsTer?)
 ClinVar dbSNP
2g.219421539T>ACA350695043DESn.697T>A
n.611T>A
c.1223T>A (p.Leu408Gln)
n.695T>A
n.618T>A
c.1220T>A (p.Leu407Gln)
c.791T>A (p.Leu264Gln)
c.1154T>A (p.Leu385Gln)
c.1202T>A (p.Leu401Gln)
c.953T>A (p.Leu318Gln)
2g.219421539T>CCA350695045DESn.697T>C
n.611T>C
c.1223T>C (p.Leu408Pro)
n.695T>C
n.618T>C
c.1220T>C (p.Leu407Pro)
c.791T>C (p.Leu264Pro)
c.1154T>C (p.Leu385Pro)
c.1202T>C (p.Leu401Pro)
c.953T>C (p.Leu318Pro)
2g.219421539T>GCA350695047DESn.697T>G
n.611T>G
c.1223T>G (p.Leu408Arg)
n.695T>G
n.618T>G
c.1220T>G (p.Leu407Arg)
c.791T>G (p.Leu264Arg)
c.1154T>G (p.Leu385Arg)
c.1202T>G (p.Leu401Arg)
c.953T>G (p.Leu318Arg)
2g.219421540G>ACA431284503DESn.698G>A
n.612G>A
c.1224G>A (p.Leu408=)
n.696G>A
n.619G>A
c.1221G>A (p.Leu407=)
c.792G>A (p.Leu264=)
c.1155G>A (p.Leu385=)
c.1203G>A (p.Leu401=)
c.954G>A (p.Leu318=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.219421540G>CCA431284501DESn.698G>C
n.612G>C
c.1224G>C (p.Leu408=)
n.696G>C
n.619G>C
c.1221G>C (p.Leu407=)
c.792G>C (p.Leu264=)
c.1155G>C (p.Leu385=)
c.1203G>C (p.Leu401=)
c.954G>C (p.Leu318=)
2g.219421540G=CA1329211344DESn.698G=
n.612G=
c.1224G= (p.Leu408=)
n.696G=
n.619G=
c.1221G= (p.Leu407=)
c.792G= (p.Leu264=)
c.1155G= (p.Leu385=)
c.1203G= (p.Leu401=)
c.954G= (p.Leu318=)
2g.219421540G>TCA431284502DESn.698G>T
n.612G>T
c.1224G>T (p.Leu408=)
n.696G>T
n.619G>T
c.1221G>T (p.Leu407=)
c.792G>T (p.Leu264=)
c.1155G>T (p.Leu385=)
c.1203G>T (p.Leu401=)
c.954G>T (p.Leu318=)
2g.219421541C>ACA350695050DESn.699C>A
n.613C>A
c.1225C>A (p.Leu409Met)
n.697C>A
n.620C>A
c.1222C>A (p.Leu408Met)
c.793C>A (p.Leu265Met)
c.1156C>A (p.Leu386Met)
c.1204C>A (p.Leu402Met)
c.955C>A (p.Leu319Met)
2g.219421541C>GCA350695052DESn.699C>G
n.613C>G
c.1225C>G (p.Leu409Val)
n.697C>G
n.620C>G
c.1222C>G (p.Leu408Val)
c.793C>G (p.Leu265Val)
c.1156C>G (p.Leu386Val)
c.1204C>G (p.Leu402Val)
c.955C>G (p.Leu319Val)
2g.219421541C>TCA431284504DESn.699C>T
n.613C>T
c.1225C>T (p.Leu409=)
n.697C>T
n.620C>T
c.1222C>T (p.Leu408=)
c.793C>T (p.Leu265=)
c.1156C>T (p.Leu386=)
c.1204C>T (p.Leu402=)
c.955C>T (p.Leu319=)
2g.219421542T>ACA350695054DESn.700T>A
n.614T>A
c.1226T>A (p.Leu409Gln)
n.698T>A
n.621T>A
c.1223T>A (p.Leu408Gln)
c.794T>A (p.Leu265Gln)
c.1157T>A (p.Leu386Gln)
c.1205T>A (p.Leu402Gln)
c.956T>A (p.Leu319Gln)
2g.219421542T>CCA133817DESn.700T>C
n.614T>C
c.1226T>C (p.Leu409Pro)
n.698T>C
n.621T>C
c.1223T>C (p.Leu408Pro)
c.794T>C (p.Leu265Pro)
c.1157T>C (p.Leu386Pro)
c.1205T>C (p.Leu402Pro)
c.956T>C (p.Leu319Pro)
 ClinVar dbSNP
2g.219421542T>GCA350695055DESn.700T>G
n.614T>G
c.1226T>G (p.Leu409Arg)
n.698T>G
n.621T>G
c.1223T>G (p.Leu408Arg)
c.794T>G (p.Leu265Arg)
c.1157T>G (p.Leu386Arg)
c.1205T>G (p.Leu402Arg)
c.956T>G (p.Leu319Arg)
2g.219421542T=CA1329211345DESn.700T=
n.614T=
c.1226T= (p.Leu409=)
n.698T=
n.621T=
c.1223T= (p.Leu408=)
c.794T= (p.Leu265=)
c.1157T= (p.Leu386=)
c.1205T= (p.Leu402=)
c.956T= (p.Leu319=)
2g.219421543G>ACA2125256DESn.701G>A
n.615G>A
c.1227G>A (p.Leu409=)
n.699G>A
n.622G>A
c.1224G>A (p.Leu408=)
c.795G>A (p.Leu265=)
c.1158G>A (p.Leu386=)
c.1206G>A (p.Leu402=)
c.957G>A (p.Leu319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.219421543G>CCA431284505DESn.701G>C
n.615G>C
c.1227G>C (p.Leu409=)
n.699G>C
n.622G>C
c.1224G>C (p.Leu408=)
c.795G>C (p.Leu265=)
c.1158G>C (p.Leu386=)
c.1206G>C (p.Leu402=)
c.957G>C (p.Leu319=)
2g.219421543G=CA1329211346DESn.701G=
n.615G=
c.1227G= (p.Leu409=)
n.699G=
n.622G=
c.1224G= (p.Leu408=)
c.795G= (p.Leu265=)
c.1158G= (p.Leu386=)
c.1206G= (p.Leu402=)
c.957G= (p.Leu319=)
2g.219421543G>TCA431284506DESn.701G>T
n.615G>T
c.1227G>T (p.Leu409=)
n.699G>T
n.622G>T
c.1224G>T (p.Leu408=)
c.795G>T (p.Leu265=)
c.1158G>T (p.Leu386=)
c.1206G>T (p.Leu402=)
c.957G>T (p.Leu319=)
 ClinVar dbSNP gnomAD v4
2g.219421544G>ACA350695060DESn.702G>A
n.616G>A
c.1228G>A (p.Glu410Lys)
n.700G>A
n.623G>A
c.1225G>A (p.Glu409Lys)
c.796G>A (p.Glu266Lys)
c.1159G>A (p.Glu387Lys)
c.1207G>A (p.Glu403Lys)
c.958G>A (p.Glu320Lys)
 ClinVar dbSNP COSMIC
2g.219421544G>CCA350695062DESn.702G>C
n.616G>C
c.1228G>C (p.Glu410Gln)
n.700G>C
n.623G>C
c.1225G>C (p.Glu409Gln)
c.796G>C (p.Glu266Gln)
c.1159G>C (p.Glu387Gln)
c.1207G>C (p.Glu403Gln)
c.958G>C (p.Glu320Gln)
2g.219421544G>TCA350695063DESn.702G>T
n.616G>T
c.1228G>T (p.Glu410Ter)
n.700G>T
n.623G>T
c.1225G>T (p.Glu409Ter)
c.796G>T (p.Glu266Ter)
c.1159G>T (p.Glu387Ter)
c.1207G>T (p.Glu403Ter)
c.958G>T (p.Glu320Ter)
2g.219421545A>CCA350695066DESn.703A>C
n.617A>C
c.1229A>C (p.Glu410Ala)
n.701A>C
n.624A>C
c.1226A>C (p.Glu409Ala)
c.797A>C (p.Glu266Ala)
c.1160A>C (p.Glu387Ala)
c.1208A>C (p.Glu403Ala)
c.959A>C (p.Glu320Ala)
2g.219421545A>GCA350695067DESn.703A>G
n.617A>G
c.1229A>G (p.Glu410Gly)
n.701A>G
n.624A>G
c.1226A>G (p.Glu409Gly)
c.797A>G (p.Glu266Gly)
c.1160A>G (p.Glu387Gly)
c.1208A>G (p.Glu403Gly)
c.959A>G (p.Glu320Gly)
2g.219421545A>TCA350695069DESn.703A>T
n.617A>T
c.1229A>T (p.Glu410Val)
n.701A>T
n.624A>T
c.1226A>T (p.Glu409Val)
c.797A>T (p.Glu266Val)
c.1160A>T (p.Glu387Val)
c.1208A>T (p.Glu403Val)
c.959A>T (p.Glu320Val)
2g.219421546G>ACA431284507DESn.704G>A
n.618G>A
c.1230G>A (p.Glu410=)
n.702G>A
n.625G>A
c.1227G>A (p.Glu409=)
c.798G>A (p.Glu266=)
c.1161G>A (p.Glu387=)
c.1209G>A (p.Glu403=)
c.960G>A (p.Glu320=)
 dbSNP
2g.219421546G>CCA350695071DESn.704G>C
n.618G>C
c.1230G>C (p.Glu410Asp)
n.702G>C
n.625G>C
c.1227G>C (p.Glu409Asp)
c.798G>C (p.Glu266Asp)
c.1161G>C (p.Glu387Asp)
c.1209G>C (p.Glu403Asp)
c.960G>C (p.Glu320Asp)
2g.219421546G=CA1329211347DESn.704G=
n.618G=
c.1230G= (p.Glu410=)
n.702G=
n.625G=
c.1227G= (p.Glu409=)
c.798G= (p.Glu266=)
c.1161G= (p.Glu387=)
c.1209G= (p.Glu403=)
c.960G= (p.Glu320=)
2g.219421546G>TCA350695072DESn.704G>T
n.618G>T
c.1230G>T (p.Glu410Asp)
n.702G>T
n.625G>T
c.1227G>T (p.Glu409Asp)
c.798G>T (p.Glu266Asp)
c.1161G>T (p.Glu387Asp)
c.1209G>T (p.Glu403Asp)
c.960G>T (p.Glu320Asp)
2g.219421547_219421553delCA2573051866DESn.705_711del
n.619_625del
c.1231_1237del (p.Gly411ArgfsTer?)
n.703_709del
n.626_632del
c.1228_1234del (p.Gly410ArgfsTer?)
c.799_805del (p.Gly267ArgfsTer?)
c.1162_1168del (p.Gly388ArgfsTer?)
c.1210_1216del (p.Gly404ArgfsTer?)
c.961_967del (p.Gly321ArgfsTer?)
 dbSNP
2g.219421547G>ACA350695074DESn.705G>A
n.619G>A
c.1231G>A (p.Gly411Arg)
n.703G>A
n.626G>A
c.1228G>A (p.Gly410Arg)
c.799G>A (p.Gly267Arg)
c.1162G>A (p.Gly388Arg)
c.1210G>A (p.Gly404Arg)
c.961G>A (p.Gly321Arg)
2g.219421547G>CCA350695075DESn.705G>C
n.619G>C
c.1231G>C (p.Gly411Arg)
n.703G>C
n.626G>C
c.1228G>C (p.Gly410Arg)
c.799G>C (p.Gly267Arg)
c.1162G>C (p.Gly388Arg)
c.1210G>C (p.Gly404Arg)
c.961G>C (p.Gly321Arg)
 COSMIC
2g.219421547G>TCA350695076DESn.705G>T
n.619G>T
c.1231G>T (p.Gly411Ter)
n.703G>T
n.626G>T
c.1228G>T (p.Gly410Ter)
c.799G>T (p.Gly267Ter)
c.1162G>T (p.Gly388Ter)
c.1210G>T (p.Gly404Ter)
c.961G>T (p.Gly321Ter)
2g.219421548G>ACA350695078DESn.706G>A
n.620G>A
c.1232G>A (p.Gly411Glu)
n.704G>A
n.627G>A
c.1229G>A (p.Gly410Glu)
c.800G>A (p.Gly267Glu)
c.1163G>A (p.Gly388Glu)
c.1211G>A (p.Gly404Glu)
c.962G>A (p.Gly321Glu)
 gnomAD v4
2g.219421548G>CCA350695079DESn.706G>C
n.620G>C
c.1232G>C (p.Gly411Ala)
n.704G>C
n.627G>C
c.1229G>C (p.Gly410Ala)
c.800G>C (p.Gly267Ala)
c.1163G>C (p.Gly388Ala)
c.1211G>C (p.Gly404Ala)
c.962G>C (p.Gly321Ala)
2g.219421548G>TCA350695084DESn.706G>T
n.620G>T
c.1232G>T (p.Gly411Val)
n.704G>T
n.627G>T
c.1229G>T (p.Gly410Val)
c.800G>T (p.Gly267Val)
c.1163G>T (p.Gly388Val)
c.1211G>T (p.Gly404Val)
c.962G>T (p.Gly321Val)
2g.219421549A=CA1329211348DESn.707A=
n.621A=
c.1233A= (p.Gly411=)
n.705A=
n.628A=
c.1230A= (p.Gly410=)
c.801A= (p.Gly267=)
c.1164A= (p.Gly388=)
c.1212A= (p.Gly404=)
c.963A= (p.Gly321=)
2g.219421549A>CCA431284510DESn.707A>C
n.621A>C
c.1233A>C (p.Gly411=)
n.705A>C
n.628A>C
c.1230A>C (p.Gly410=)
c.801A>C (p.Gly267=)
c.1164A>C (p.Gly388=)
c.1212A>C (p.Gly404=)
c.963A>C (p.Gly321=)
 dbSNP
2g.219421549A>GCA431284509DESn.707A>G
n.621A>G
c.1233A>G (p.Gly411=)
n.705A>G
n.628A>G
c.1230A>G (p.Gly410=)
c.801A>G (p.Gly267=)
c.1164A>G (p.Gly388=)
c.1212A>G (p.Gly404=)
c.963A>G (p.Gly321=)
2g.219421549A>TCA431284508DESn.707A>T
n.621A>T
c.1233A>T (p.Gly411=)
n.705A>T
n.628A>T
c.1230A>T (p.Gly410=)
c.801A>T (p.Gly267=)
c.1164A>T (p.Gly388=)
c.1212A>T (p.Gly404=)
c.963A>T (p.Gly321=)
2g.219421549_219421552delinsAGAGCA1329211349DESn.707_710delinsAGAG
n.621_624delinsAGAG
c.1233_1236delinsAGAG (p.Gly411=)
n.705_708delinsAGAG
n.628_631delinsAGAG
c.1230_1233delinsAGAG (p.Gly410=)
c.801_804delinsAGAG (p.Gly267=)
c.1164_1167delinsAGAG (p.Gly388=)
c.1212_1215delinsAGAG (p.Gly404=)
c.963_966delinsAGAG (p.Gly321=)
2g.219421550G>ACA352006DESn.708G>A
n.622G>A
c.1234G>A (p.Glu412Lys)
n.706G>A
n.629G>A
c.1231G>A (p.Glu411Lys)
c.802G>A (p.Glu268Lys)
c.1165G>A (p.Glu389Lys)
c.1213G>A (p.Glu405Lys)
c.964G>A (p.Glu322Lys)
 ClinVar dbSNP
2g.219421550G>CCA350695088DESn.708G>C
n.622G>C
c.1234G>C (p.Glu412Gln)
n.706G>C
n.629G>C
c.1231G>C (p.Glu411Gln)
c.802G>C (p.Glu268Gln)
c.1165G>C (p.Glu389Gln)
c.1213G>C (p.Glu405Gln)
c.964G>C (p.Glu322Gln)
2g.219421550G=CA1329211350DESn.708G=
n.622G=
c.1234G= (p.Glu412=)
n.706G=
n.629G=
c.1231G= (p.Glu411=)
c.802G= (p.Glu268=)
c.1165G= (p.Glu389=)
c.1213G= (p.Glu405=)
c.964G= (p.Glu322=)
2g.219421550G>TCA350695086DESn.708G>T
n.622G>T
c.1234G>T (p.Glu412Ter)
n.706G>T
n.629G>T
c.1231G>T (p.Glu411Ter)
c.802G>T (p.Glu268Ter)
c.1165G>T (p.Glu389Ter)
c.1213G>T (p.Glu405Ter)
c.964G>T (p.Glu322Ter)
2g.219421553_219421555delCA1042514406DESn.711_713del
n.625_627del
c.1237_1239del (p.Glu413del)
n.709_711del
n.632_634del
c.1234_1236del (p.Glu412del)
c.805_807del (p.Glu269del)
c.1168_1170del (p.Glu390del)
c.1216_1218del (p.Glu406del)
c.967_969del (p.Glu323del)
 dbSNP gnomAD v3 gnomAD v4
2g.219421551A>CCA350695090DESn.709A>C
n.623A>C
c.1235A>C (p.Glu412Ala)
n.707A>C
n.630A>C
c.1232A>C (p.Glu411Ala)
c.803A>C (p.Glu268Ala)
c.1166A>C (p.Glu389Ala)
c.1214A>C (p.Glu405Ala)
c.965A>C (p.Glu322Ala)
2g.219421551A>GCA350695092DESn.709A>G
n.623A>G
c.1235A>G (p.Glu412Gly)
n.707A>G
n.630A>G
c.1232A>G (p.Glu411Gly)
c.803A>G (p.Glu268Gly)
c.1166A>G (p.Glu389Gly)
c.1214A>G (p.Glu405Gly)
c.965A>G (p.Glu322Gly)
2g.219421551A>TCA350695094DESn.709A>T
n.623A>T
c.1235A>T (p.Glu412Val)
n.707A>T
n.630A>T
c.1232A>T (p.Glu411Val)
c.803A>T (p.Glu268Val)
c.1166A>T (p.Glu389Val)
c.1214A>T (p.Glu405Val)
c.965A>T (p.Glu322Val)
2g.219421552G>ACA431284511DESn.710G>A
n.624G>A
c.1236G>A (p.Glu412=)
n.708G>A
n.631G>A
c.1233G>A (p.Glu411=)
c.804G>A (p.Glu268=)
c.1167G>A (p.Glu389=)
c.1215G>A (p.Glu405=)
c.966G>A (p.Glu322=)
 dbSNP gnomAD v4
2g.219421552G>CCA350695096DESn.710G>C
n.624G>C
c.1236G>C (p.Glu412Asp)
n.708G>C
n.631G>C
c.1233G>C (p.Glu411Asp)
c.804G>C (p.Glu268Asp)
c.1167G>C (p.Glu389Asp)
c.1215G>C (p.Glu405Asp)
c.966G>C (p.Glu322Asp)
2g.219421552G=CA1329211351DESn.710G=
n.624G=
c.1236G= (p.Glu412=)
n.708G=
n.631G=
c.1233G= (p.Glu411=)
c.804G= (p.Glu268=)
c.1167G= (p.Glu389=)
c.1215G= (p.Glu405=)
c.966G= (p.Glu322=)
2g.219421552G>TCA350695098DESn.710G>T
n.624G>T
c.1236G>T (p.Glu412Asp)
n.708G>T
n.631G>T
c.1233G>T (p.Glu411Asp)
c.804G>T (p.Glu268Asp)
c.1167G>T (p.Glu389Asp)
c.1215G>T (p.Glu405Asp)
c.966G>T (p.Glu322Asp)
 ClinVar
2g.219421553G>ACA284673DESn.711G>A
n.625G>A
c.1237G>A (p.Glu413Lys)
n.709G>A
n.632G>A
c.1234G>A (p.Glu412Lys)
c.805G>A (p.Glu269Lys)
c.1168G>A (p.Glu390Lys)
c.1216G>A (p.Glu406Lys)
c.967G>A (p.Glu323Lys)
 ClinVar dbSNP
2g.219421553G>CCA350695101DESn.711G>C
n.625G>C
c.1237G>C (p.Glu413Gln)
n.709G>C
n.632G>C
c.1234G>C (p.Glu412Gln)
c.805G>C (p.Glu269Gln)
c.1168G>C (p.Glu390Gln)
c.1216G>C (p.Glu406Gln)
c.967G>C (p.Glu323Gln)
2g.219421553G=CA1329211352DESn.711G=
n.625G=
c.1237G= (p.Glu413=)
n.709G=
n.632G=
c.1234G= (p.Glu412=)
c.805G= (p.Glu269=)
c.1168G= (p.Glu390=)
c.1216G= (p.Glu406=)
c.967G= (p.Glu323=)
2g.219421553G>TCA350695103DESn.711G>T
n.625G>T
c.1237G>T (p.Glu413Ter)
n.709G>T
n.632G>T
c.1234G>T (p.Glu412Ter)
c.805G>T (p.Glu269Ter)
c.1168G>T (p.Glu390Ter)
c.1216G>T (p.Glu406Ter)
c.967G>T (p.Glu323Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.219421553_219421554delinsAGCA2586971385DESn.711_712delinsAG
n.625_626delinsAG
c.1237_1238delinsAG (p.Glu413Arg)
n.709_710delinsAG
n.632_633delinsAG
c.1234_1235delinsAG (p.Glu412Arg)
c.805_806delinsAG (p.Glu269Arg)
c.1168_1169delinsAG (p.Glu390Arg)
c.1216_1217delinsAG (p.Glu406Arg)
c.967_968delinsAG (p.Glu323Arg)
2g.219421554A=CA1329211353DESn.712A=
n.626A=
c.1238A= (p.Glu413=)
n.710A=
n.633A=
c.1235A= (p.Glu412=)
c.806A= (p.Glu269=)
c.1169A= (p.Glu390=)
c.1217A= (p.Glu406=)
c.968A= (p.Glu323=)
2g.219421554A>CCA350695104DESn.712A>C
n.626A>C
c.1238A>C (p.Glu413Ala)
n.710A>C
n.633A>C
c.1235A>C (p.Glu412Ala)
c.806A>C (p.Glu269Ala)
c.1169A>C (p.Glu390Ala)
c.1217A>C (p.Glu406Ala)
c.968A>C (p.Glu323Ala)
2g.219421554A>GCA350695106DESn.712A>G
n.626A>G
c.1238A>G (p.Glu413Gly)
n.710A>G
n.633A>G
c.1235A>G (p.Glu412Gly)
c.806A>G (p.Glu269Gly)
c.1169A>G (p.Glu390Gly)
c.1217A>G (p.Glu406Gly)
c.968A>G (p.Glu323Gly)
 ClinVar dbSNP
2g.219421554A>TCA350695107DESn.712A>T
n.626A>T
c.1238A>T (p.Glu413Val)
n.710A>T
n.633A>T
c.1235A>T (p.Glu412Val)
c.806A>T (p.Glu269Val)
c.1169A>T (p.Glu390Val)
c.1217A>T (p.Glu406Val)
c.968A>T (p.Glu323Val)
2g.219421555G>ACA431284512DESn.713G>A
n.627G>A
c.1239G>A (p.Glu413=)
n.711G>A
n.634G>A
c.1236G>A (p.Glu412=)
c.807G>A (p.Glu269=)
c.1170G>A (p.Glu390=)
c.1218G>A (p.Glu406=)
c.969G>A (p.Glu323=)
2g.219421555G>CCA350695109DESn.713G>C
n.627G>C
c.1239G>C (p.Glu413Asp)
n.711G>C
n.634G>C
c.1236G>C (p.Glu412Asp)
c.807G>C (p.Glu269Asp)
c.1170G>C (p.Glu390Asp)
c.1218G>C (p.Glu406Asp)
c.969G>C (p.Glu323Asp)
2g.219421555G>TCA350695112DESn.713G>T
n.627G>T
c.1239G>T (p.Glu413Asp)
n.711G>T
n.634G>T
c.1236G>T (p.Glu412Asp)
c.807G>T (p.Glu269Asp)
c.1170G>T (p.Glu390Asp)
c.1218G>T (p.Glu406Asp)
c.969G>T (p.Glu323Asp)
2g.219421556A>CCA350695118DESn.714A>C
n.628A>C
c.1240A>C (p.Ser414Arg)
n.712A>C
n.635A>C
c.1237A>C (p.Ser413Arg)
c.808A>C (p.Ser270Arg)
c.1171A>C (p.Ser391Arg)
c.1219A>C (p.Ser407Arg)
c.970A>C (p.Ser324Arg)
2g.219421556A>GCA350695114DESn.714A>G
n.628A>G
c.1240A>G (p.Ser414Gly)
n.712A>G
n.635A>G
c.1237A>G (p.Ser413Gly)
c.808A>G (p.Ser270Gly)
c.1171A>G (p.Ser391Gly)
c.1219A>G (p.Ser407Gly)
c.970A>G (p.Ser324Gly)
 ClinVar
2g.219421556A>TCA350695116DESn.714A>T
n.628A>T
c.1240A>T (p.Ser414Cys)
n.712A>T
n.635A>T
c.1237A>T (p.Ser413Cys)
c.808A>T (p.Ser270Cys)
c.1171A>T (p.Ser391Cys)
c.1219A>T (p.Ser407Cys)
c.970A>T (p.Ser324Cys)
2g.219421557G>ACA350695120DESn.715G>A
n.629G>A
c.1241G>A (p.Ser414Asn)
n.713G>A
n.636G>A
c.1238G>A (p.Ser413Asn)
c.809G>A (p.Ser270Asn)
c.1172G>A (p.Ser391Asn)
c.1220G>A (p.Ser407Asn)
c.971G>A (p.Ser324Asn)
2g.219421557G>CCA350695122DESn.715G>C
n.629G>C
c.1241G>C (p.Ser414Thr)
n.713G>C
n.636G>C
c.1238G>C (p.Ser413Thr)
c.809G>C (p.Ser270Thr)
c.1172G>C (p.Ser391Thr)
c.1220G>C (p.Ser407Thr)
c.971G>C (p.Ser324Thr)
2g.219421557G>TCA350695124DESn.715G>T
n.629G>T
c.1241G>T (p.Ser414Ile)
n.713G>T
n.636G>T
c.1238G>T (p.Ser413Ile)
c.809G>T (p.Ser270Ile)
c.1172G>T (p.Ser391Ile)
c.1220G>T (p.Ser407Ile)
c.971G>T (p.Ser324Ile)
2g.219421557_219421558delinsGCCA1329211354DESn.715_716delinsGC
n.629_630delinsGC
c.1241_1242delinsGC (p.Ser414=)
n.713_714delinsGC
n.636_637delinsGC
c.1238_1239delinsGC (p.Ser413=)
c.809_810delinsGC (p.Ser270=)
c.1172_1173delinsGC (p.Ser391=)
c.1220_1221delinsGC (p.Ser407=)
c.971_972delinsGC (p.Ser324=)
2g.219421558C>ACA350695126DESn.716C>A
n.630C>A
c.1242C>A (p.Ser414Arg)
n.714C>A
n.637C>A
c.1239C>A (p.Ser413Arg)
c.810C>A (p.Ser270Arg)
c.1173C>A (p.Ser391Arg)
c.1221C>A (p.Ser407Arg)
c.972C>A (p.Ser324Arg)
2g.219421558C=CA1329211355DESn.716C=
n.630C=
c.1242C= (p.Ser414=)
n.714C=
n.637C=
c.1239C= (p.Ser413=)
c.810C= (p.Ser270=)
c.1173C= (p.Ser391=)
c.1221C= (p.Ser407=)
c.972C= (p.Ser324=)
2g.219421558C>GCA350695127DESn.716C>G
n.630C>G
c.1242C>G (p.Ser414Arg)
n.714C>G
n.637C>G
c.1239C>G (p.Ser413Arg)
c.810C>G (p.Ser270Arg)
c.1173C>G (p.Ser391Arg)
c.1221C>G (p.Ser407Arg)
c.972C>G (p.Ser324Arg)
2g.219421558C>TCA2125257DESn.716C>T
n.630C>T
c.1242C>T (p.Ser414=)
n.714C>T
n.637C>T
c.1239C>T (p.Ser413=)
c.810C>T (p.Ser270=)
c.1173C>T (p.Ser391=)
c.1221C>T (p.Ser407=)
c.972C>T (p.Ser324=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.219421559delCA916081395DESn.717del
n.631del
c.1243del (p.Arg415GlyfsTer?)
n.715del
n.638del
c.1240del (p.Arg414GlyfsTer?)
c.811del (p.Arg271GlyfsTer?)
c.1174del (p.Arg392GlyfsTer?)
c.1222del (p.Arg408GlyfsTer?)
c.973del (p.Arg325GlyfsTer?)
 ClinVar dbSNP
2g.219421559C>ACA431284513DESn.717C>A
n.631C>A
c.1243C>A (p.Arg415=)
n.715C>A
n.638C>A
c.1240C>A (p.Arg414=)
c.811C>A (p.Arg271=)
c.1174C>A (p.Arg392=)
c.1222C>A (p.Arg408=)
c.973C>A (p.Arg325=)
2g.219421559C=CA1329211356DESn.717C=
n.631C=
c.1243C= (p.Arg415=)
n.715C=
n.638C=
c.1240C= (p.Arg414=)
c.811C= (p.Arg271=)
c.1174C= (p.Arg392=)
c.1222C= (p.Arg408=)
c.973C= (p.Arg325=)
2g.219421559C>GCA350695130DESn.717C>G
n.631C>G
c.1243C>G (p.Arg415Gly)
n.715C>G
n.638C>G
c.1240C>G (p.Arg414Gly)
c.811C>G (p.Arg271Gly)
c.1174C>G (p.Arg392Gly)
c.1222C>G (p.Arg408Gly)
c.973C>G (p.Arg325Gly)
 ClinVar dbSNP
2g.219421559C>TCA308281DESn.717C>T
n.631C>T
c.1243C>T (p.Arg415Trp)
n.715C>T
n.638C>T
c.1240C>T (p.Arg414Trp)
c.811C>T (p.Arg271Trp)
c.1174C>T (p.Arg392Trp)
c.1222C>T (p.Arg408Trp)
c.973C>T (p.Arg325Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched