Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.161410994G>ACA447605076GABRB2c.522C>T (p.Cys174=)
n.604C>T
c.270C>T (p.Cys90=)
c.42C>T (p.Cys14=)
c.333C>T (p.Cys111=)
 ClinVar gnomAD v4
5g.161410994G>CCA362172145GABRB2c.522C>G (p.Cys174Trp)
n.604C>G
c.270C>G (p.Cys90Trp)
c.42C>G (p.Cys14Trp)
c.333C>G (p.Cys111Trp)
5g.161410994G>TCA362172146GABRB2c.522C>A (p.Cys174Ter)
n.604C>A
c.270C>A (p.Cys90Ter)
c.42C>A (p.Cys14Ter)
c.333C>A (p.Cys111Ter)
5g.161410995C>ACA362172147GABRB2c.521G>T (p.Cys174Phe)
n.603G>T
c.269G>T (p.Cys90Phe)
c.41G>T (p.Cys14Phe)
c.332G>T (p.Cys111Phe)
 gnomAD v4
5g.161410995C>GCA362172148GABRB2c.521G>C (p.Cys174Ser)
n.603G>C
c.269G>C (p.Cys90Ser)
c.41G>C (p.Cys14Ser)
c.332G>C (p.Cys111Ser)
5g.161410995C>TCA362172149GABRB2c.521G>A (p.Cys174Tyr)
n.603G>A
c.269G>A (p.Cys90Tyr)
c.41G>A (p.Cys14Tyr)
c.332G>A (p.Cys111Tyr)
5g.161410996A>CCA362172150GABRB2c.520T>G (p.Cys174Gly)
n.602T>G
c.268T>G (p.Cys90Gly)
c.40T>G (p.Cys14Gly)
c.331T>G (p.Cys111Gly)
5g.161410996A>GCA362172151GABRB2c.520T>C (p.Cys174Arg)
n.602T>C
c.268T>C (p.Cys90Arg)
c.40T>C (p.Cys14Arg)
c.331T>C (p.Cys111Arg)
5g.161410996A>TCA362172152GABRB2c.520T>A (p.Cys174Ser)
n.602T>A
c.268T>A (p.Cys90Ser)
c.40T>A (p.Cys14Ser)
c.331T>A (p.Cys111Ser)
5g.161410997G>ACA447605077GABRB2c.519C>T (p.Asn173=)
n.601C>T
c.267C>T (p.Asn89=)
c.39C>T (p.Asn13=)
c.330C>T (p.Asn110=)
5g.161410997G>CCA362172153GABRB2c.519C>G (p.Asn173Lys)
n.601C>G
c.267C>G (p.Asn89Lys)
c.39C>G (p.Asn13Lys)
c.330C>G (p.Asn110Lys)
5g.161410997G>TCA362172154GABRB2c.519C>A (p.Asn173Lys)
n.601C>A
c.267C>A (p.Asn89Lys)
c.39C>A (p.Asn13Lys)
c.330C>A (p.Asn110Lys)
5g.161410998T>ACA362172157GABRB2c.518A>T (p.Asn173Ile)
n.600A>T
c.266A>T (p.Asn89Ile)
c.38A>T (p.Asn13Ile)
c.329A>T (p.Asn110Ile)
5g.161410998T>CCA362172156GABRB2c.518A>G (p.Asn173Ser)
n.600A>G
c.266A>G (p.Asn89Ser)
c.38A>G (p.Asn13Ser)
c.329A>G (p.Asn110Ser)
5g.161410998T>GCA362172155GABRB2c.518A>C (p.Asn173Thr)
n.600A>C
c.266A>C (p.Asn89Thr)
c.38A>C (p.Asn13Thr)
c.329A>C (p.Asn110Thr)
5g.161410999T>ACA362172158GABRB2c.517A>T (p.Asn173Tyr)
n.599A>T
c.265A>T (p.Asn89Tyr)
c.37A>T (p.Asn13Tyr)
c.328A>T (p.Asn110Tyr)
5g.161410999T>CCA362172159GABRB2c.517A>G (p.Asn173Asp)
n.599A>G
c.265A>G (p.Asn89Asp)
c.37A>G (p.Asn13Asp)
c.328A>G (p.Asn110Asp)
5g.161410999T>GCA362172160GABRB2c.517A>C (p.Asn173His)
n.599A>C
c.265A>C (p.Asn89His)
c.37A>C (p.Asn13His)
c.328A>C (p.Asn110His)
5g.161411000T>ACA362172161GABRB2c.516A>T (p.Gln172His)
n.598A>T
c.264A>T (p.Gln88His)
c.36A>T (p.Gln12His)
c.327A>T (p.Gln109His)
5g.161411000T>CCA447605078GABRB2c.516A>G (p.Gln172=)
n.598A>G
c.264A>G (p.Gln88=)
c.36A>G (p.Gln12=)
c.327A>G (p.Gln109=)
5g.161411000T>GCA362172162GABRB2c.516A>C (p.Gln172His)
n.598A>C
c.264A>C (p.Gln88His)
c.36A>C (p.Gln12His)
c.327A>C (p.Gln109His)
5g.161411001T>ACA362172163GABRB2c.515A>T (p.Gln172Leu)
n.597A>T
c.263A>T (p.Gln88Leu)
c.35A>T (p.Gln12Leu)
c.326A>T (p.Gln109Leu)
5g.161411001T>CCA362172164GABRB2c.515A>G (p.Gln172Arg)
n.597A>G
c.263A>G (p.Gln88Arg)
c.35A>G (p.Gln12Arg)
c.326A>G (p.Gln109Arg)
5g.161411001T>GCA362172165GABRB2c.515A>C (p.Gln172Pro)
n.597A>C
c.263A>C (p.Gln88Pro)
c.35A>C (p.Gln12Pro)
c.326A>C (p.Gln109Pro)
5g.161411002G>ACA362172166GABRB2c.514C>T (p.Gln172Ter)
n.596C>T
c.262C>T (p.Gln88Ter)
c.34C>T (p.Gln12Ter)
c.325C>T (p.Gln109Ter)
5g.161411002G>CCA362172167GABRB2c.514C>G (p.Gln172Glu)
n.596C>G
c.262C>G (p.Gln88Glu)
c.34C>G (p.Gln12Glu)
c.325C>G (p.Gln109Glu)
5g.161411002G>TCA362172168GABRB2c.514C>A (p.Gln172Lys)
n.596C>A
c.262C>A (p.Gln88Lys)
c.34C>A (p.Gln12Lys)
c.325C>A (p.Gln109Lys)
5g.161411003T>ACA362172169GABRB2c.513A>T (p.Glu171Asp)
n.595A>T
c.261A>T (p.Glu87Asp)
c.33A>T (p.Glu11Asp)
c.324A>T (p.Glu108Asp)
5g.161411003T>CCA3543578GABRB2c.513A>G (p.Glu171=)
n.595A>G
c.261A>G (p.Glu87=)
c.33A>G (p.Glu11=)
c.324A>G (p.Glu108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161411003T>GCA362172170GABRB2c.513A>C (p.Glu171Asp)
n.595A>C
c.261A>C (p.Glu87Asp)
c.33A>C (p.Glu11Asp)
c.324A>C (p.Glu108Asp)
5g.161411003T=CA1596016635GABRB2c.513A= (p.Glu171=)
n.595A=
c.261A= (p.Glu87=)
c.33A= (p.Glu11=)
c.324A= (p.Glu108=)
5g.161411004T>ACA362172172GABRB2c.512A>T (p.Glu171Val)
n.594A>T
c.260A>T (p.Glu87Val)
c.32A>T (p.Glu11Val)
c.323A>T (p.Glu108Val)
5g.161411004T>CCA362172173GABRB2c.512A>G (p.Glu171Gly)
n.594A>G
c.260A>G (p.Glu87Gly)
c.32A>G (p.Glu11Gly)
c.323A>G (p.Glu108Gly)
5g.161411004T>GCA362172171GABRB2c.512A>C (p.Glu171Ala)
n.594A>C
c.260A>C (p.Glu87Ala)
c.32A>C (p.Glu11Ala)
c.323A>C (p.Glu108Ala)
5g.161411005C>ACA362172174GABRB2c.511G>T (p.Glu171Ter)
n.593G>T
c.259G>T (p.Glu87Ter)
c.31G>T (p.Glu11Ter)
c.322G>T (p.Glu108Ter)
5g.161411005C>GCA362172175GABRB2c.511G>C (p.Glu171Gln)
n.593G>C
c.259G>C (p.Glu87Gln)
c.31G>C (p.Glu11Gln)
c.322G>C (p.Glu108Gln)
5g.161411005C>TCA362172176GABRB2c.511G>A (p.Glu171Lys)
n.593G>A
c.259G>A (p.Glu87Lys)
c.31G>A (p.Glu11Lys)
c.322G>A (p.Glu108Lys)
5g.161411006A>CCA362172177GABRB2c.510T>G (p.Asp170Glu)
n.592T>G
c.258T>G (p.Asp86Glu)
c.30T>G (p.Asp10Glu)
c.321T>G (p.Asp107Glu)
5g.161411006A>GCA447605079GABRB2c.510T>C (p.Asp170=)
n.592T>C
c.258T>C (p.Asp86=)
c.30T>C (p.Asp10=)
c.321T>C (p.Asp107=)
5g.161411006A>TCA362172178GABRB2c.510T>A (p.Asp170Glu)
n.592T>A
c.258T>A (p.Asp86Glu)
c.30T>A (p.Asp10Glu)
c.321T>A (p.Asp107Glu)
5g.161411007T>ACA362172179GABRB2c.509A>T (p.Asp170Val)
n.591A>T
c.257A>T (p.Asp86Val)
c.29A>T (p.Asp10Val)
c.320A>T (p.Asp107Val)
5g.161411007T>CCA362172180GABRB2c.509A>G (p.Asp170Gly)
n.591A>G
c.257A>G (p.Asp86Gly)
c.29A>G (p.Asp10Gly)
c.320A>G (p.Asp107Gly)
5g.161411007T>GCA362172181GABRB2c.509A>C (p.Asp170Ala)
n.591A>C
c.257A>C (p.Asp86Ala)
c.29A>C (p.Asp10Ala)
c.320A>C (p.Asp107Ala)
5g.161411008C>ACA362172183GABRB2c.508G>T (p.Asp170Tyr)
n.590G>T
c.256G>T (p.Asp86Tyr)
c.28G>T (p.Asp10Tyr)
c.319G>T (p.Asp107Tyr)
5g.161411008C>GCA362172184GABRB2c.508G>C (p.Asp170His)
n.590G>C
c.256G>C (p.Asp86His)
c.28G>C (p.Asp10His)
c.319G>C (p.Asp107His)
5g.161411008C>TCA362172185GABRB2c.508G>A (p.Asp170Asn)
n.590G>A
c.256G>A (p.Asp86Asn)
c.28G>A (p.Asp10Asn)
c.319G>A (p.Asp107Asn)
5g.161411009C>ACA447605081GABRB2c.507G>T (p.Leu169=)
n.589G>T
c.255G>T (p.Leu85=)
c.27G>T (p.Leu9=)
c.318G>T (p.Leu106=)
5g.161411009C=CA1596016636GABRB2c.507G= (p.Leu169=)
n.589G=
c.255G= (p.Leu85=)
c.27G= (p.Leu9=)
c.318G= (p.Leu106=)
5g.161411009C>GCA447605082GABRB2c.507G>C (p.Leu169=)
n.589G>C
c.255G>C (p.Leu85=)
c.27G>C (p.Leu9=)
c.318G>C (p.Leu106=)
5g.161411009C>TCA447605080GABRB2c.507G>A (p.Leu169=)
n.589G>A
c.255G>A (p.Leu85=)
c.27G>A (p.Leu9=)
c.318G>A (p.Leu106=)
 dbSNP
5g.161411010A>CCA362172186GABRB2c.506T>G (p.Leu169Arg)
n.588T>G
c.254T>G (p.Leu85Arg)
c.26T>G (p.Leu9Arg)
c.317T>G (p.Leu106Arg)
5g.161411010A>GCA362172187GABRB2c.506T>C (p.Leu169Pro)
n.588T>C
c.254T>C (p.Leu85Pro)
c.26T>C (p.Leu9Pro)
c.317T>C (p.Leu106Pro)
5g.161411010A>TCA362172188GABRB2c.506T>A (p.Leu169Gln)
n.588T>A
c.254T>A (p.Leu85Gln)
c.26T>A (p.Leu9Gln)
c.317T>A (p.Leu106Gln)
5g.161411011G>ACA447605083GABRB2c.505C>T (p.Leu169=)
n.587C>T
c.253C>T (p.Leu85=)
c.25C>T (p.Leu9=)
c.316C>T (p.Leu106=)
5g.161411011G>CCA362172189GABRB2c.505C>G (p.Leu169Val)
n.587C>G
c.253C>G (p.Leu85Val)
c.25C>G (p.Leu9Val)
c.316C>G (p.Leu106Val)
5g.161411011G>TCA362172190GABRB2c.505C>A (p.Leu169Met)
n.587C>A
c.253C>A (p.Leu85Met)
c.25C>A (p.Leu9Met)
c.316C>A (p.Leu106Met)
5g.161411012T>ACA447605084GABRB2c.504A>T (p.Pro168=)
n.586A>T
c.252A>T (p.Pro84=)
c.24A>T (p.Pro8=)
c.315A>T (p.Pro105=)
5g.161411012T>CCA447605086GABRB2c.504A>G (p.Pro168=)
n.586A>G
c.252A>G (p.Pro84=)
c.24A>G (p.Pro8=)
c.315A>G (p.Pro105=)
5g.161411012T>GCA447605085GABRB2c.504A>C (p.Pro168=)
n.586A>C
c.252A>C (p.Pro84=)
c.24A>C (p.Pro8=)
c.315A>C (p.Pro105=)
5g.161411013G>ACA362172191GABRB2c.503C>T (p.Pro168Leu)
n.585C>T
c.251C>T (p.Pro84Leu)
c.23C>T (p.Pro8Leu)
c.314C>T (p.Pro105Leu)
5g.161411013G>CCA362172192GABRB2c.503C>G (p.Pro168Arg)
n.585C>G
c.251C>G (p.Pro84Arg)
c.23C>G (p.Pro8Arg)
c.314C>G (p.Pro105Arg)
5g.161411013G>TCA362172193GABRB2c.503C>A (p.Pro168Gln)
n.585C>A
c.251C>A (p.Pro84Gln)
c.23C>A (p.Pro8Gln)
c.314C>A (p.Pro105Gln)
5g.161411015dupCA2567463274GABRB2c.503dup (p.Leu169ThrfsTer3)
n.585dup
c.251dup (p.Leu85ThrfsTer3)
c.23dup (p.Leu9ThrfsTer3)
c.314dup (p.Leu106ThrfsTer3)
5g.161411015delCA2739272772GABRB2c.503del (p.Pro168HisfsTer?)
n.585del
c.251del (p.Pro84HisfsTer17)
c.251del (p.Pro84HisfsTer?)
c.23del (p.Pro8HisfsTer?)
c.314del (p.Pro105HisfsTer?)
 ClinVar
5g.161411014G>ACA362172194GABRB2c.502C>T (p.Pro168Ser)
n.584C>T
c.250C>T (p.Pro84Ser)
c.22C>T (p.Pro8Ser)
c.313C>T (p.Pro105Ser)
5g.161411014G>CCA362172195GABRB2c.502C>G (p.Pro168Ala)
n.584C>G
c.250C>G (p.Pro84Ala)
c.22C>G (p.Pro8Ala)
c.313C>G (p.Pro105Ala)
5g.161411014G>TCA362172196GABRB2c.502C>A (p.Pro168Thr)
n.584C>A
c.250C>A (p.Pro84Thr)
c.22C>A (p.Pro8Thr)
c.313C>A (p.Pro105Thr)
5g.161411015G>ACA447605087GABRB2c.501C>T (p.Tyr167=)
n.583C>T
c.249C>T (p.Tyr83=)
c.21C>T (p.Tyr7=)
c.312C>T (p.Tyr104=)
5g.161411015G>CCA362172197GABRB2c.501C>G (p.Tyr167Ter)
n.583C>G
c.249C>G (p.Tyr83Ter)
c.21C>G (p.Tyr7Ter)
c.312C>G (p.Tyr104Ter)
5g.161411015G>TCA362172198GABRB2c.501C>A (p.Tyr167Ter)
n.583C>A
c.249C>A (p.Tyr83Ter)
c.21C>A (p.Tyr7Ter)
c.312C>A (p.Tyr104Ter)
5g.161411016T>ACA362172199GABRB2c.500A>T (p.Tyr167Phe)
n.582A>T
c.248A>T (p.Tyr83Phe)
c.20A>T (p.Tyr7Phe)
c.311A>T (p.Tyr104Phe)
5g.161411016T>CCA362172200GABRB2c.500A>G (p.Tyr167Cys)
n.582A>G
c.248A>G (p.Tyr83Cys)
c.20A>G (p.Tyr7Cys)
c.311A>G (p.Tyr104Cys)
5g.161411016T>GCA362172201GABRB2c.500A>C (p.Tyr167Ser)
n.582A>C
c.248A>C (p.Tyr83Ser)
c.20A>C (p.Tyr7Ser)
c.311A>C (p.Tyr104Ser)
5g.161411017A>CCA362172202GABRB2c.499T>G (p.Tyr167Asp)
n.581T>G
c.247T>G (p.Tyr83Asp)
c.19T>G (p.Tyr7Asp)
c.310T>G (p.Tyr104Asp)
5g.161411017A>GCA362172204GABRB2c.499T>C (p.Tyr167His)
n.581T>C
c.247T>C (p.Tyr83His)
c.19T>C (p.Tyr7His)
c.310T>C (p.Tyr104His)
5g.161411017A>TCA362172203GABRB2c.499T>A (p.Tyr167Asn)
n.581T>A
c.247T>A (p.Tyr83Asn)
c.19T>A (p.Tyr7Asn)
c.310T>A (p.Tyr104Asn)
 COSMIC
5g.161411018C>ACA362172205GABRB2c.498G>T (p.Arg166Ser)
n.580G>T
c.246G>T (p.Arg82Ser)
c.18G>T (p.Arg6Ser)
c.309G>T (p.Arg103Ser)
5g.161411018C>GCA362172206GABRB2c.498G>C (p.Arg166Ser)
n.580G>C
c.246G>C (p.Arg82Ser)
c.18G>C (p.Arg6Ser)
c.309G>C (p.Arg103Ser)
5g.161411018C>TCA447605088GABRB2c.498G>A (p.Arg166=)
n.580G>A
c.246G>A (p.Arg82=)
c.18G>A (p.Arg6=)
c.309G>A (p.Arg103=)
 gnomAD v4
5g.161411019C>ACA362172207GABRB2c.497G>T (p.Arg166Met)
n.579G>T
c.245G>T (p.Arg82Met)
c.17G>T (p.Arg6Met)
c.308G>T (p.Arg103Met)
5g.161411019C>GCA362172209GABRB2c.497G>C (p.Arg166Thr)
n.579G>C
c.245G>C (p.Arg82Thr)
c.17G>C (p.Arg6Thr)
c.308G>C (p.Arg103Thr)
5g.161411019C>TCA362172208GABRB2c.497G>A (p.Arg166Lys)
n.579G>A
c.245G>A (p.Arg82Lys)
c.17G>A (p.Arg6Lys)
c.308G>A (p.Arg103Lys)
5g.161411020T>ACA362172210GABRB2c.496A>T (p.Arg166Trp)
n.578A>T
c.244A>T (p.Arg82Trp)
c.16A>T (p.Arg6Trp)
c.307A>T (p.Arg103Trp)
 COSMIC COSMIC
5g.161411020T>CCA362172211GABRB2c.496A>G (p.Arg166Gly)
n.578A>G
c.244A>G (p.Arg82Gly)
c.16A>G (p.Arg6Gly)
c.307A>G (p.Arg103Gly)
5g.161411020T>GCA447605089GABRB2c.496A>C (p.Arg166=)
n.578A>C
c.244A>C (p.Arg82=)
c.16A>C (p.Arg6=)
c.307A>C (p.Arg103=)
5g.161411021C>ACA362172212GABRB2c.495G>T (p.Arg165Ser)
n.577G>T
c.243G>T (p.Arg81Ser)
c.15G>T (p.Arg5Ser)
c.306G>T (p.Arg102Ser)
5g.161411021C=CA1596016637GABRB2c.495G= (p.Arg165=)
n.577G=
c.243G= (p.Arg81=)
c.15G= (p.Arg5=)
c.306G= (p.Arg102=)
5g.161411021C>GCA362172213GABRB2c.495G>C (p.Arg165Ser)
n.577G>C
c.243G>C (p.Arg81Ser)
c.15G>C (p.Arg5Ser)
c.306G>C (p.Arg102Ser)
5g.161411021C>TCA447605090GABRB2c.495G>A (p.Arg165=)
n.577G>A
c.243G>A (p.Arg81=)
c.15G>A (p.Arg5=)
c.306G>A (p.Arg102=)
 dbSNP gnomAD v2 gnomAD v4
5g.161411022C>ACA362172214GABRB2c.494G>T (p.Arg165Met)
n.576G>T
c.242G>T (p.Arg81Met)
c.14G>T (p.Arg5Met)
c.305G>T (p.Arg102Met)
5g.161411022C>GCA362172215GABRB2c.494G>C (p.Arg165Thr)
n.576G>C
c.242G>C (p.Arg81Thr)
c.14G>C (p.Arg5Thr)
c.305G>C (p.Arg102Thr)
5g.161411022C>TCA362172216GABRB2c.494G>A (p.Arg165Lys)
n.576G>A
c.242G>A (p.Arg81Lys)
c.14G>A (p.Arg5Lys)
c.305G>A (p.Arg102Lys)
 COSMIC COSMIC
5g.161411023T>ACA362172217GABRB2c.493A>T (p.Arg165Trp)
n.575A>T
c.241A>T (p.Arg81Trp)
c.13A>T (p.Arg5Trp)
c.304A>T (p.Arg102Trp)
 COSMIC COSMIC
5g.161411023T>CCA362172218GABRB2c.493A>G (p.Arg165Gly)
n.575A>G
c.241A>G (p.Arg81Gly)
c.13A>G (p.Arg5Gly)
c.304A>G (p.Arg102Gly)
5g.161411023T>GCA447605091GABRB2c.493A>C (p.Arg165=)
n.575A>C
c.241A>C (p.Arg81=)
c.13A>C (p.Arg5=)
c.304A>C (p.Arg102=)
5g.161411024T>ACA447605092GABRB2c.492A>T (p.Leu164=)
n.574A>T
c.240A>T (p.Leu80=)
c.12A>T (p.Leu4=)
c.303A>T (p.Leu101=)
5g.161411024T>CCA447605093GABRB2c.492A>G (p.Leu164=)
n.574A>G
c.240A>G (p.Leu80=)
c.12A>G (p.Leu4=)
c.303A>G (p.Leu101=)
5g.161411024T>GCA447605094GABRB2c.492A>C (p.Leu164=)
n.574A>C
c.240A>C (p.Leu80=)
c.12A>C (p.Leu4=)
c.303A>C (p.Leu101=)
5g.161411025A>CCA362172219GABRB2c.491T>G (p.Leu164Arg)
n.573T>G
c.239T>G (p.Leu80Arg)
c.11T>G (p.Leu4Arg)
c.302T>G (p.Leu101Arg)
5g.161411025A>GCA362172220GABRB2c.491T>C (p.Leu164Pro)
n.573T>C
c.239T>C (p.Leu80Pro)
c.11T>C (p.Leu4Pro)
c.302T>C (p.Leu101Pro)
5g.161411025A>TCA362172221GABRB2c.491T>A (p.Leu164Gln)
n.573T>A
c.239T>A (p.Leu80Gln)
c.11T>A (p.Leu4Gln)
c.302T>A (p.Leu101Gln)
5g.161411026G>ACA3543579GABRB2c.490C>T (p.Leu164=)
n.572C>T
c.238C>T (p.Leu80=)
c.10C>T (p.Leu4=)
c.301C>T (p.Leu101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161411026G>CCA362172222GABRB2c.490C>G (p.Leu164Val)
n.572C>G
c.238C>G (p.Leu80Val)
c.10C>G (p.Leu4Val)
c.301C>G (p.Leu101Val)
5g.161411026G=CA1596016638GABRB2c.490C= (p.Leu164=)
n.572C=
c.238C= (p.Leu80=)
c.10C= (p.Leu4=)
c.301C= (p.Leu101=)
5g.161411026G>TCA362172223GABRB2c.490C>A (p.Leu164Ile)
n.572C>A
c.238C>A (p.Leu80Ile)
c.10C>A (p.Leu4Ile)
c.301C>A (p.Leu101Ile)
5g.161411027G>ACA447605095GABRB2c.489C>T (p.Asp163=)
n.571C>T
c.237C>T (p.Asp79=)
c.9C>T (p.Asp3=)
c.300C>T (p.Asp100=)
 dbSNP gnomAD v3 gnomAD v4
5g.161411027G>CCA362172224GABRB2c.489C>G (p.Asp163Glu)
n.571C>G
c.237C>G (p.Asp79Glu)
c.9C>G (p.Asp3Glu)
c.300C>G (p.Asp100Glu)
5g.161411027G=CA1596016639GABRB2c.489C= (p.Asp163=)
n.571C=
c.237C= (p.Asp79=)
c.9C= (p.Asp3=)
c.300C= (p.Asp100=)
5g.161411027G>TCA362172225GABRB2c.489C>A (p.Asp163Glu)
n.571C>A
c.237C>A (p.Asp79Glu)
c.9C>A (p.Asp3Glu)
c.300C>A (p.Asp100Glu)
5g.161411028T>ACA362172226GABRB2c.488A>T (p.Asp163Val)
n.570A>T
c.236A>T (p.Asp79Val)
c.8A>T (p.Asp3Val)
c.299A>T (p.Asp100Val)
5g.161411028T>CCA362172227GABRB2c.488A>G (p.Asp163Gly)
n.570A>G
c.236A>G (p.Asp79Gly)
c.8A>G (p.Asp3Gly)
c.299A>G (p.Asp100Gly)
 gnomAD v4
5g.161411028T>GCA362172228GABRB2c.488A>C (p.Asp163Ala)
n.570A>C
c.236A>C (p.Asp79Ala)
c.8A>C (p.Asp3Ala)
c.299A>C (p.Asp100Ala)
5g.161411029C>ACA362172229GABRB2c.487G>T (p.Asp163Tyr)
n.569G>T
c.235G>T (p.Asp79Tyr)
c.7G>T (p.Asp3Tyr)
c.298G>T (p.Asp100Tyr)
5g.161411029C>GCA362172230GABRB2c.487G>C (p.Asp163His)
n.569G>C
c.235G>C (p.Asp79His)
c.7G>C (p.Asp3His)
c.298G>C (p.Asp100His)
 COSMIC COSMIC
5g.161411029C>TCA362172231GABRB2c.487G>A (p.Asp163Asn)
n.569G>A
c.235G>A (p.Asp79Asn)
c.7G>A (p.Asp3Asn)
c.298G>A (p.Asp100Asn)
5g.161411030C>ACA362172232GABRB2c.486G>T (p.Met162Ile)
n.568G>T
c.234G>T (p.Met78Ile)
c.6G>T (p.Met2Ile)
c.297G>T (p.Met99Ile)
5g.161411030C>GCA362172233GABRB2c.486G>C (p.Met162Ile)
n.568G>C
c.234G>C (p.Met78Ile)
c.6G>C (p.Met2Ile)
c.297G>C (p.Met99Ile)
5g.161411030C>TCA362172234GABRB2c.486G>A (p.Met162Ile)
n.568G>A
c.234G>A (p.Met78Ile)
c.6G>A (p.Met2Ile)
c.297G>A (p.Met99Ile)
5g.161411031A=CA1596016640GABRB2c.485T= (p.Met162=)
n.567T=
c.233T= (p.Met78=)
c.5T= (p.Met2=)
c.296T= (p.Met99=)
5g.161411031A>CCA362172237GABRB2c.485T>G (p.Met162Arg)
n.567T>G
c.233T>G (p.Met78Arg)
c.5T>G (p.Met2Arg)
c.296T>G (p.Met99Arg)
 ClinVar dbSNP
5g.161411031A>GCA362172236GABRB2c.485T>C (p.Met162Thr)
n.567T>C
c.233T>C (p.Met78Thr)
c.5T>C (p.Met2Thr)
c.296T>C (p.Met99Thr)
5g.161411031A>TCA362172235GABRB2c.485T>A (p.Met162Lys)
n.567T>A
c.233T>A (p.Met78Lys)
c.5T>A (p.Met2Lys)
c.296T>A (p.Met99Lys)
5g.161411032T>ACA362172240GABRB2c.484A>T (p.Met162Leu)
n.566A>T
c.232A>T (p.Met78Leu)
c.4A>T (p.Met2Leu)
c.295A>T (p.Met99Leu)
5g.161411032T>CCA362172238GABRB2c.484A>G (p.Met162Val)
n.566A>G
c.232A>G (p.Met78Val)
c.4A>G (p.Met2Val)
c.295A>G (p.Met99Val)
5g.161411032T>GCA362172239GABRB2c.484A>C (p.Met162Leu)
n.566A>C
c.232A>C (p.Met78Leu)
c.4A>C (p.Met2Leu)
c.295A>C (p.Met99Leu)
5g.161411033C>ACA362172241GABRB2c.483G>T (p.Met161Ile)
n.565G>T
c.231G>T (p.Met77Ile)
c.3G>T (p.Met1Ile)
c.294G>T (p.Met98Ile)
5g.161411033C=CA1596016641GABRB2c.483G= (p.Met161=)
n.565G=
c.231G= (p.Met77=)
c.3G= (p.Met1=)
c.294G= (p.Met98=)
5g.161411033C>GCA362172242GABRB2c.483G>C (p.Met161Ile)
n.565G>C
c.231G>C (p.Met77Ile)
c.3G>C (p.Met1Ile)
c.294G>C (p.Met98Ile)
5g.161411033C>TCA362172243GABRB2c.483G>A (p.Met161Ile)
n.565G>A
c.231G>A (p.Met77Ile)
c.3G>A (p.Met1Ile)
c.294G>A (p.Met98Ile)
 dbSNP
5g.161411034A=CA1596016642GABRB2c.482T= (p.Met161=)
n.564T=
c.230T= (p.Met77=)
c.2T= (p.Met1=)
c.293T= (p.Met98=)
5g.161411034A>CCA362172244GABRB2c.482T>G (p.Met161Arg)
n.564T>G
c.230T>G (p.Met77Arg)
c.2T>G (p.Met1Arg)
c.293T>G (p.Met98Arg)
5g.161411034A>GCA16604729GABRB2c.482T>C (p.Met161Thr)
n.564T>C
c.230T>C (p.Met77Thr)
c.2T>C (p.Met1Thr)
c.293T>C (p.Met98Thr)
 ClinVar dbSNP
5g.161411034A>TCA362172245GABRB2c.482T>A (p.Met161Lys)
n.564T>A
c.230T>A (p.Met77Lys)
c.2T>A (p.Met1Lys)
c.293T>A (p.Met98Lys)
5g.161411035T>ACA362172246GABRB2c.481A>T (p.Met161Leu)
n.563A>T
c.229A>T (p.Met77Leu)
c.1A>T (p.Met1Leu)
c.292A>T (p.Met98Leu)
5g.161411035T>CCA362172247GABRB2c.481A>G (p.Met161Val)
n.563A>G
c.229A>G (p.Met77Val)
c.1A>G (p.Met1Val)
c.292A>G (p.Met98Val)
5g.161411035T>GCA362172248GABRB2c.481A>C (p.Met161Leu)
n.563A>C
c.229A>C (p.Met77Leu)
c.1A>C (p.Met1Leu)
c.292A>C (p.Met98Leu)
5g.161411036G>ACA447605096GABRB2c.480C>T (p.Cys160=)
n.562C>T
c.228C>T (p.Cys76=)
c.-1C>T (n.-1C>T)
c.291C>T (p.Cys97=)
 dbSNP
5g.161411036G>CCA362172249GABRB2c.480C>G (p.Cys160Trp)
n.562C>G
c.228C>G (p.Cys76Trp)
c.-1C>G (n.-1C>G)
c.291C>G (p.Cys97Trp)
5g.161411036G=CA1596016643GABRB2c.480C= (p.Cys160=)
n.562C=
c.228C= (p.Cys76=)
c.-1C= (n.-1C=)
c.291C= (p.Cys97=)
5g.161411036G>TCA362172250GABRB2c.480C>A (p.Cys160Ter)
n.562C>A
c.228C>A (p.Cys76Ter)
c.-1C>A (n.-1C>A)
c.291C>A (p.Cys97Ter)
 COSMIC COSMIC
5g.161411037C>ACA362172254GABRB2c.479G>T (p.Cys160Phe)
n.561G>T
c.227G>T (p.Cys76Phe)
c.-2G>T (n.-2G>T)
c.290G>T (p.Cys97Phe)
5g.161411037C>GCA362172251GABRB2c.479G>C (p.Cys160Ser)
n.561G>C
c.227G>C (p.Cys76Ser)
c.-2G>C (n.-2G>C)
c.290G>C (p.Cys97Ser)
5g.161411037C>TCA362172252GABRB2c.479G>A (p.Cys160Tyr)
n.561G>A
c.227G>A (p.Cys76Tyr)
c.-2G>A (n.-2G>A)
c.290G>A (p.Cys97Tyr)
5g.161411038A>CCA362172255GABRB2c.478T>G (p.Cys160Gly)
n.560T>G
c.226T>G (p.Cys76Gly)
c.-3T>G (n.-3T>G)
c.289T>G (p.Cys97Gly)
5g.161411038A>GCA362172256GABRB2c.478T>C (p.Cys160Arg)
n.560T>C
c.226T>C (p.Cys76Arg)
c.-3T>C (n.-3T>C)
c.289T>C (p.Cys97Arg)
5g.161411038A>TCA362172257GABRB2c.478T>A (p.Cys160Ser)
n.560T>A
c.226T>A (p.Cys76Ser)
c.-3T>A (n.-3T>A)
c.289T>A (p.Cys97Ser)
5g.161411039G>ACA447605097GABRB2c.477C>T (p.Ala159=)
n.559C>T
c.225C>T (p.Ala75=)
c.-4C>T (n.-4C>T)
c.288C>T (p.Ala96=)
 dbSNP gnomAD v4
5g.161411039G>CCA447605099GABRB2c.477C>G (p.Ala159=)
n.559C>G
c.225C>G (p.Ala75=)
c.-4C>G (n.-4C>G)
c.288C>G (p.Ala96=)
5g.161411039G>TCA447605098GABRB2c.477C>A (p.Ala159=)
n.559C>A
c.225C>A (p.Ala75=)
c.-4C>A (n.-4C>A)
c.288C>A (p.Ala96=)
5g.161411040G>ACA362172258GABRB2c.476C>T (p.Ala159Val)
n.558C>T
c.224C>T (p.Ala75Val)
c.-5C>T (n.-5C>T)
c.287C>T (p.Ala96Val)
5g.161411040G>CCA362172259GABRB2c.476C>G (p.Ala159Gly)
n.558C>G
c.224C>G (p.Ala75Gly)
c.-5C>G (n.-5C>G)
c.287C>G (p.Ala96Gly)
5g.161411040G>TCA362172260GABRB2c.476C>A (p.Ala159Asp)
n.558C>A
c.224C>A (p.Ala75Asp)
c.-5C>A (n.-5C>A)
c.287C>A (p.Ala96Asp)
5g.161411041C>ACA362172261GABRB2c.475G>T (p.Ala159Ser)
n.557G>T
c.223G>T (p.Ala75Ser)
c.-6G>T (n.-6G>T)
c.286G>T (p.Ala96Ser)
 ClinVar dbSNP
5g.161411041C=CA1596016644GABRB2c.475G= (p.Ala159=)
n.557G=
c.223G= (p.Ala75=)
c.-6G= (n.-6G=)
c.286G= (p.Ala96=)
5g.161411041C>GCA362172262GABRB2c.475G>C (p.Ala159Pro)
n.557G>C
c.223G>C (p.Ala75Pro)
c.-6G>C (n.-6G>C)
c.286G>C (p.Ala96Pro)
5g.161411041C>TCA362172263GABRB2c.475G>A (p.Ala159Thr)
n.557G>A
c.223G>A (p.Ala75Thr)
c.-6G>A (n.-6G>A)
c.286G>A (p.Ala96Thr)
 COSMIC COSMIC
5g.161411042A>CCA447605100GABRB2c.474T>G (p.Ala158=)
n.556T>G
c.222T>G (p.Ala74=)
c.-7T>G (n.-7T>G)
c.285T>G (p.Ala95=)
5g.161411042A>GCA447605101GABRB2c.474T>C (p.Ala158=)
n.556T>C
c.222T>C (p.Ala74=)
c.-7T>C (n.-7T>C)
c.285T>C (p.Ala95=)
5g.161411042A>TCA447605102GABRB2c.474T>A (p.Ala158=)
n.556T>A
c.222T>A (p.Ala74=)
c.-7T>A (n.-7T>A)
c.285T>A (p.Ala95=)
5g.161411043G>ACA362172264GABRB2c.473C>T (p.Ala158Val)
n.555C>T
c.221C>T (p.Ala74Val)
c.-8C>T (n.-8C>T)
c.284C>T (p.Ala95Val)
5g.161411043G>CCA362172265GABRB2c.473C>G (p.Ala158Gly)
n.555C>G
c.221C>G (p.Ala74Gly)
c.-8C>G (n.-8C>G)
c.284C>G (p.Ala95Gly)
5g.161411043G>TCA362172266GABRB2c.473C>A (p.Ala158Asp)
n.555C>A
c.221C>A (p.Ala74Asp)
c.-8C>A (n.-8C>A)
c.284C>A (p.Ala95Asp)
5g.161411044C>ACA362172268GABRB2c.472G>T (p.Ala158Ser)
n.554G>T
c.220G>T (p.Ala74Ser)
c.-9G>T (n.-9G>T)
c.283G>T (p.Ala95Ser)
5g.161411044C>GCA362172269GABRB2c.472G>C (p.Ala158Pro)
n.554G>C
c.220G>C (p.Ala74Pro)
c.-9G>C (n.-9G>C)
c.283G>C (p.Ala95Pro)
5g.161411044C>TCA362172267GABRB2c.472G>A (p.Ala158Thr)
n.554G>A
c.220G>A (p.Ala74Thr)
c.-9G>A (n.-9G>A)
c.283G>A (p.Ala95Thr)
5g.161411045T>ACA447605103GABRB2c.471A>T (p.Thr157=)
n.553A>T
c.219A>T (p.Thr73=)
c.-10A>T (n.-10A>T)
c.282A>T (p.Thr94=)
5g.161411045T>CCA447605104GABRB2c.471A>G (p.Thr157=)
n.553A>G
c.219A>G (p.Thr73=)
c.-10A>G (n.-10A>G)
c.282A>G (p.Thr94=)
5g.161411045T>GCA447605105GABRB2c.471A>C (p.Thr157=)
n.553A>C
c.219A>C (p.Thr73=)
c.-10A>C (n.-10A>C)
c.282A>C (p.Thr94=)
5g.161411046G>ACA362172270GABRB2c.470C>T (p.Thr157Ile)
n.552C>T
c.218C>T (p.Thr73Ile)
c.-11C>T (n.-11C>T)
c.281C>T (p.Thr94Ile)
5g.161411046G>CCA362172271GABRB2c.470C>G (p.Thr157Arg)
n.552C>G
c.218C>G (p.Thr73Arg)
c.-11C>G (n.-11C>G)
c.281C>G (p.Thr94Arg)
5g.161411046G>TCA362172272GABRB2c.470C>A (p.Thr157Lys)
n.552C>A
c.218C>A (p.Thr73Lys)
c.-11C>A (n.-11C>A)
c.281C>A (p.Thr94Lys)
5g.161411047T>ACA362172273GABRB2c.469A>T (p.Thr157Ser)
n.551A>T
c.217A>T (p.Thr73Ser)
c.-12A>T (n.-12A>T)
c.280A>T (p.Thr94Ser)
5g.161411047T>CCA362172274GABRB2c.469A>G (p.Thr157Ala)
n.551A>G
c.217A>G (p.Thr73Ala)
c.-12A>G (n.-12A>G)
c.280A>G (p.Thr94Ala)
5g.161411047T>GCA362172275GABRB2c.469A>C (p.Thr157Pro)
n.551A>C
c.217A>C (p.Thr73Pro)
c.-12A>C (n.-12A>C)
c.280A>C (p.Thr94Pro)
5g.161411048G>ACA447605108GABRB2c.468C>T (p.Thr156=)
n.550C>T
c.216C>T (p.Thr72=)
c.-13C>T (n.-13C>T)
c.279C>T (p.Thr93=)
5g.161411048G>CCA447605106GABRB2c.468C>G (p.Thr156=)
n.550C>G
c.216C>G (p.Thr72=)
c.-13C>G (n.-13C>G)
c.279C>G (p.Thr93=)
 ClinVar
5g.161411048G>TCA447605107GABRB2c.468C>A (p.Thr156=)
n.550C>A
c.216C>A (p.Thr72=)
c.-13C>A (n.-13C>A)
c.279C>A (p.Thr93=)
5g.161411049G>ACA362172276GABRB2c.467C>T (p.Thr156Ile)
n.549C>T
c.215C>T (p.Thr72Ile)
c.-14C>T (n.-14C>T)
c.278C>T (p.Thr93Ile)
5g.161411049G>CCA362172277GABRB2c.467C>G (p.Thr156Ser)
n.549C>G
c.215C>G (p.Thr72Ser)
c.-14C>G (n.-14C>G)
c.278C>G (p.Thr93Ser)
5g.161411049G>TCA362172278GABRB2c.467C>A (p.Thr156Asn)
n.549C>A
c.215C>A (p.Thr72Asn)
c.-14C>A (n.-14C>A)
c.278C>A (p.Thr93Asn)
5g.161411050T>ACA362172279GABRB2c.466A>T (p.Thr156Ser)
n.548A>T
c.214A>T (p.Thr72Ser)
c.-15A>T (n.-15A>T)
c.277A>T (p.Thr93Ser)
5g.161411050T>CCA362172280GABRB2c.466A>G (p.Thr156Ala)
n.548A>G
c.214A>G (p.Thr72Ala)
c.-15A>G (n.-15A>G)
c.277A>G (p.Thr93Ala)
5g.161411050T>GCA362172281GABRB2c.466A>C (p.Thr156Pro)
n.548A>C
c.214A>C (p.Thr72Pro)
c.-15A>C (n.-15A>C)
c.277A>C (p.Thr93Pro)
5g.161411051T>ACA447605109GABRB2c.465A>T (p.Thr155=)
n.547A>T
c.213A>T (p.Thr71=)
c.-16A>T (n.-16A>T)
c.276A>T (p.Thr92=)
5g.161411051T>CCA447605110GABRB2c.465A>G (p.Thr155=)
n.547A>G
c.213A>G (p.Thr71=)
c.-16A>G (n.-16A>G)
c.276A>G (p.Thr92=)
5g.161411051T>GCA3543580GABRB2c.465A>C (p.Thr155=)
n.547A>C
c.213A>C (p.Thr71=)
c.-16A>C (n.-16A>C)
c.276A>C (p.Thr92=)
 dbSNP ExAC
5g.161411051T=CA1596016645GABRB2c.465A= (p.Thr155=)
n.547A=
c.213A= (p.Thr71=)
c.-16A= (n.-16A=)
c.276A= (p.Thr92=)
5g.161411052G>ACA131028744GABRB2c.464C>T (p.Thr155Ile)
n.546C>T
c.212C>T (p.Thr71Ile)
c.-17C>T (n.-17C>T)
c.275C>T (p.Thr92Ile)
 dbSNP
5g.161411052G>CCA362172283GABRB2c.464C>G (p.Thr155Arg)
n.546C>G
c.212C>G (p.Thr71Arg)
c.-17C>G (n.-17C>G)
c.275C>G (p.Thr92Arg)
5g.161411052G=CA1596016646GABRB2c.464C= (p.Thr155=)
n.546C=
c.212C= (p.Thr71=)
c.-17C= (n.-17C=)
c.275C= (p.Thr92=)
5g.161411052G>TCA362172282GABRB2c.464C>A (p.Thr155Lys)
n.546C>A
c.212C>A (p.Thr71Lys)
c.-17C>A (n.-17C>A)
c.275C>A (p.Thr92Lys)
5g.161411053T>ACA362172284GABRB2c.463A>T (p.Thr155Ser)
n.545A>T
c.211A>T (p.Thr71Ser)
c.-18A>T (n.-18A>T)
c.274A>T (p.Thr92Ser)
5g.161411053T>CCA362172285GABRB2c.463A>G (p.Thr155Ala)
n.545A>G
c.211A>G (p.Thr71Ala)
c.-18A>G (n.-18A>G)
c.274A>G (p.Thr92Ala)
5g.161411053T>GCA362172286GABRB2c.463A>C (p.Thr155Pro)
n.545A>C
c.211A>C (p.Thr71Pro)
c.-18A>C (n.-18A>C)
c.274A>C (p.Thr92Pro)
5g.161411054G>ACA3543581GABRB2c.462C>T (p.Ile154=)
n.544C>T
c.210C>T (p.Ile70=)
c.-19C>T (n.-19C>T)
c.273C>T (p.Ile91=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161411054G>CCA362172287GABRB2c.462C>G (p.Ile154Met)
n.544C>G
c.210C>G (p.Ile70Met)
c.-19C>G (n.-19C>G)
c.273C>G (p.Ile91Met)
5g.161411054G=CA1596016647GABRB2c.462C= (p.Ile154=)
n.544C=
c.210C= (p.Ile70=)
c.-19C= (n.-19C=)
c.273C= (p.Ile91=)
5g.161411054G>TCA447605111GABRB2c.462C>A (p.Ile154=)
n.544C>A
c.210C>A (p.Ile70=)
c.-19C>A (n.-19C>A)
c.273C>A (p.Ile91=)
 gnomAD v4
5g.161411055A>CCA362172288GABRB2c.461T>G (p.Ile154Ser)
n.543T>G
c.209T>G (p.Ile70Ser)
c.-20T>G (n.-20T>G)
c.272T>G (p.Ile91Ser)
5g.161411055A>GCA362172289GABRB2c.461T>C (p.Ile154Thr)
n.543T>C
c.209T>C (p.Ile70Thr)
c.-20T>C (n.-20T>C)
c.272T>C (p.Ile91Thr)
5g.161411055A>TCA362172290GABRB2c.461T>A (p.Ile154Asn)
n.543T>A
c.209T>A (p.Ile70Asn)
c.-20T>A (n.-20T>A)
c.272T>A (p.Ile91Asn)
5g.161411056T>ACA362172291GABRB2c.460A>T (p.Ile154Phe)
n.542A>T
c.208A>T (p.Ile70Phe)
c.-21A>T (n.-21A>T)
c.271A>T (p.Ile91Phe)
5g.161411056T>CCA362172292GABRB2c.460A>G (p.Ile154Val)
n.542A>G
c.208A>G (p.Ile70Val)
c.-21A>G (n.-21A>G)
c.271A>G (p.Ile91Val)
5g.161411056T>GCA362172293GABRB2c.460A>C (p.Ile154Leu)
n.542A>C
c.208A>C (p.Ile70Leu)
c.-21A>C (n.-21A>C)
c.271A>C (p.Ile91Leu)
5g.161411057T>ACA362172294GABRB2c.459A>T (p.Arg153Ser)
n.541A>T
c.207A>T (p.Arg69Ser)
c.-22A>T (n.-22A>T)
c.270A>T (p.Arg90Ser)
5g.161411057T>CCA447605112GABRB2c.459A>G (p.Arg153=)
n.541A>G
c.207A>G (p.Arg69=)
c.-22A>G (n.-22A>G)
c.270A>G (p.Arg90=)
 ClinVar dbSNP
5g.161411057T>GCA362172295GABRB2c.459A>C (p.Arg153Ser)
n.541A>C
c.207A>C (p.Arg69Ser)
c.-22A>C (n.-22A>C)
c.270A>C (p.Arg90Ser)
5g.161411058C>ACA362172297GABRB2c.459-1G>T (n.459-1G>T)
n.541-1G>T
c.207-1G>T (n.207-1G>T)
c.-22-1G>T (n.-22-1G>T)
c.270-1G>T (n.270-1G>T)
5g.161411058C>GCA362172298GABRB2c.459-1G>C (n.459-1G>C)
n.541-1G>C
c.207-1G>C (n.207-1G>C)
c.-22-1G>C (n.-22-1G>C)
c.270-1G>C (n.270-1G>C)
5g.161411058C>TCA362172296GABRB2c.459-1G>A (n.459-1G>A)
n.541-1G>A
c.207-1G>A (n.207-1G>A)
c.-22-1G>A (n.-22-1G>A)
c.270-1G>A (n.270-1G>A)
5g.161411059T>ACA362172299GABRB2c.459-2A>T (n.459-2A>T)
n.541-2A>T
c.207-2A>T (n.207-2A>T)
c.-22-2A>T (n.-22-2A>T)
c.270-2A>T (n.270-2A>T)
5g.161411059T>CCA362172300GABRB2c.459-2A>G (n.459-2A>G)
n.541-2A>G
c.207-2A>G (n.207-2A>G)
c.-22-2A>G (n.-22-2A>G)
c.270-2A>G (n.270-2A>G)
 dbSNP gnomAD v2 gnomAD v4
5g.161411059T>GCA362172301GABRB2c.459-2A>C (n.459-2A>C)
n.541-2A>C
c.207-2A>C (n.207-2A>C)
c.-22-2A>C (n.-22-2A>C)
c.270-2A>C (n.270-2A>C)
5g.161411059T=CA1596016648GABRB2c.459-2A= (n.459-2A=)
n.541-2A=
c.207-2A= (n.207-2A=)
c.-22-2A= (n.-22-2A=)
c.270-2A= (n.270-2A=)
5g.161411061G>CCA2676313984GABRB2c.459-4C>G (n.459-4C>G)
n.541-4C>G
c.207-4C>G (n.207-4C>G)
c.-22-4C>G (n.-22-4C>G)
c.270-4C>G (n.270-4C>G)
 gnomAD v4
5g.161411061G=CA1596016649GABRB2c.459-4C= (n.459-4C=)
n.541-4C=
c.207-4C= (n.207-4C=)
c.-22-4C= (n.-22-4C=)
c.270-4C= (n.270-4C=)
5g.161411061G>TCA3543582GABRB2c.459-4C>A (n.459-4C>A)
n.541-4C>A
c.207-4C>A (n.207-4C>A)
c.-22-4C>A (n.-22-4C>A)
c.270-4C>A (n.270-4C>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
5g.161411064G>ACA2562635040GABRB2c.459-7C>T (n.459-7C>T)
n.541-7C>T
c.207-7C>T (n.207-7C>T)
c.-22-7C>T (n.-22-7C>T)
c.270-7C>T (n.270-7C>T)
5g.161411065A>GCA2676313985GABRB2c.459-8T>C (n.459-8T>C)
n.541-8T>C
c.207-8T>C (n.207-8T>C)
c.-22-8T>C (n.-22-8T>C)
c.270-8T>C (n.270-8T>C)
 gnomAD v4
5g.161411066C>ACA2676313986GABRB2c.459-9G>T (n.459-9G>T)
n.541-9G>T
c.207-9G>T (n.207-9G>T)
c.-22-9G>T (n.-22-9G>T)
c.270-9G>T (n.270-9G>T)
 gnomAD v4
5g.161411066C>TCA2710530928GABRB2c.459-9G>A (n.459-9G>A)
n.541-9G>A
c.207-9G>A (n.207-9G>A)
c.-22-9G>A (n.-22-9G>A)
c.270-9G>A (n.270-9G>A)
 dbSNP
5g.161411068A=CA1596016650GABRB2c.459-11T= (n.459-11T=)
n.541-11T=
c.207-11T= (n.207-11T=)
c.-22-11T= (n.-22-11T=)
c.270-11T= (n.270-11T=)
5g.161411068A>GCA1596016651GABRB2c.459-11T>C (n.459-11T>C)
n.541-11T>C
c.207-11T>C (n.207-11T>C)
c.-22-11T>C (n.-22-11T>C)
c.270-11T>C (n.270-11T>C)
 dbSNP gnomAD v4
5g.161411070T>CCA131028745GABRB2c.459-13A>G (n.459-13A>G)
n.541-13A>G
c.207-13A>G (n.207-13A>G)
c.-22-13A>G (n.-22-13A>G)
c.270-13A>G (n.270-13A>G)
 ClinVar dbSNP gnomAD v4
5g.161411070T=CA1596016652GABRB2c.459-13A= (n.459-13A=)
n.541-13A=
c.207-13A= (n.207-13A=)
c.-22-13A= (n.-22-13A=)
c.270-13A= (n.270-13A=)
5g.161411071A>GCA2676313987GABRB2c.459-14T>C (n.459-14T>C)
n.541-14T>C
c.207-14T>C (n.207-14T>C)
c.-22-14T>C (n.-22-14T>C)
c.270-14T>C (n.270-14T>C)
 gnomAD v4
5g.161411072G>ACA3543583GABRB2c.459-15C>T (n.459-15C>T)
n.541-15C>T
c.207-15C>T (n.207-15C>T)
c.-22-15C>T (n.-22-15C>T)
c.270-15C>T (n.270-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161411072G=CA1596016653GABRB2c.459-15C= (n.459-15C=)
n.541-15C=
c.207-15C= (n.207-15C=)
c.-22-15C= (n.-22-15C=)
c.270-15C= (n.270-15C=)
5g.161411072G>TCA2676313988GABRB2c.459-15C>A (n.459-15C>A)
n.541-15C>A
c.207-15C>A (n.207-15C>A)
c.-22-15C>A (n.-22-15C>A)
c.270-15C>A (n.270-15C>A)
 gnomAD v4
5g.161411075A=CA1596016654GABRB2c.459-18T= (n.459-18T=)
n.541-18T=
c.207-18T= (n.207-18T=)
c.-22-18T= (n.-22-18T=)
c.270-18T= (n.270-18T=)
5g.161411075A>GCA1596016655GABRB2c.459-18T>C (n.459-18T>C)
n.541-18T>C
c.207-18T>C (n.207-18T>C)
c.-22-18T>C (n.-22-18T>C)
c.270-18T>C (n.270-18T>C)
 dbSNP gnomAD v4
5g.161411077G>ACA564136790GABRB2c.459-20C>T (n.459-20C>T)
n.541-20C>T
c.207-20C>T (n.207-20C>T)
c.-22-20C>T (n.-22-20C>T)
c.270-20C>T (n.270-20C>T)
 dbSNP gnomAD v2 gnomAD v4
5g.161411077G=CA1596016656GABRB2c.459-20C= (n.459-20C=)
n.541-20C=
c.207-20C= (n.207-20C=)
c.-22-20C= (n.-22-20C=)
c.270-20C= (n.270-20C=)
5g.161411077G>TCA2676313989GABRB2c.459-20C>A (n.459-20C>A)
n.541-20C>A
c.207-20C>A (n.207-20C>A)
c.-22-20C>A (n.-22-20C>A)
c.270-20C>A (n.270-20C>A)
 gnomAD v4
5g.161411078A>TCA2676313990GABRB2c.459-21T>A (n.459-21T>A)
n.541-21T>A
c.207-21T>A (n.207-21T>A)
c.-22-21T>A (n.-22-21T>A)
c.270-21T>A (n.270-21T>A)
 gnomAD v4
5g.161411079T>CCA2676313991GABRB2c.459-22A>G (n.459-22A>G)
n.541-22A>G
c.207-22A>G (n.207-22A>G)
c.-22-22A>G (n.-22-22A>G)
c.270-22A>G (n.270-22A>G)
 gnomAD v4
5g.161411079_161411080delinsTGCA1596016657GABRB2c.459-23_459-22delinsCA (n.459-23_459-22delinsCA)
n.541-23_541-22delinsCA
c.207-23_207-22delinsCA (n.207-23_207-22delinsCA)
c.-22-23_-22-22delinsCA (n.-22-23_-22-22delinsCA)
c.270-23_270-22delinsCA (n.270-23_270-22delinsCA)
5g.161411080delCA1596016658GABRB2c.459-23del (n.459-23del)
n.541-23del
c.207-23del (n.207-23del)
c.-22-23del (n.-22-23del)
c.270-23del (n.270-23del)
 dbSNP gnomAD v4
5g.161411080G>ACA806572773GABRB2c.459-23C>T (n.459-23C>T)
n.541-23C>T
c.207-23C>T (n.207-23C>T)
c.-22-23C>T (n.-22-23C>T)
c.270-23C>T (n.270-23C>T)
 dbSNP
5g.161411080G=CA1596016659GABRB2c.459-23C= (n.459-23C=)
n.541-23C=
c.207-23C= (n.207-23C=)
c.-22-23C= (n.-22-23C=)
c.270-23C= (n.270-23C=)
5g.161411080G>TCA2676313992GABRB2c.459-23C>A (n.459-23C>A)
n.541-23C>A
c.207-23C>A (n.207-23C>A)
c.-22-23C>A (n.-22-23C>A)
c.270-23C>A (n.270-23C>A)
 gnomAD v4
5g.161411080_161411081delinsGACA1596016660GABRB2c.459-24_459-23delinsTC (n.459-24_459-23delinsTC)
n.541-24_541-23delinsTC
c.207-24_207-23delinsTC (n.207-24_207-23delinsTC)
c.-22-24_-22-23delinsTC (n.-22-24_-22-23delinsTC)
c.270-24_270-23delinsTC (n.270-24_270-23delinsTC)
5g.161411081delCA1083631756GABRB2c.459-24del (n.459-24del)
n.541-24del
c.207-24del (n.207-24del)
c.-22-24del (n.-22-24del)
c.270-24del (n.270-24del)
 dbSNP
5g.161411082G>ACA3543584GABRB2c.459-25C>T (n.459-25C>T)
n.541-25C>T
c.207-25C>T (n.207-25C>T)
c.-22-25C>T (n.-22-25C>T)
c.270-25C>T (n.270-25C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161411082G=CA1596016661GABRB2c.459-25C= (n.459-25C=)
n.541-25C=
c.207-25C= (n.207-25C=)
c.-22-25C= (n.-22-25C=)
c.270-25C= (n.270-25C=)
5g.161411082G>TCA2676313993GABRB2c.459-25C>A (n.459-25C>A)
n.541-25C>A
c.207-25C>A (n.207-25C>A)
c.-22-25C>A (n.-22-25C>A)
c.270-25C>A (n.270-25C>A)
 gnomAD v4
5g.161411083T>ACA2578474116GABRB2c.459-26A>T (n.459-26A>T)
n.541-26A>T
c.207-26A>T (n.207-26A>T)
c.-22-26A>T (n.-22-26A>T)
c.270-26A>T (n.270-26A>T)
5g.161411084G>ACA3543585GABRB2c.459-27C>T (n.459-27C>T)
n.541-27C>T
c.207-27C>T (n.207-27C>T)
c.-22-27C>T (n.-22-27C>T)
c.270-27C>T (n.270-27C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161411084G=CA1596016662GABRB2c.459-27C= (n.459-27C=)
n.541-27C=
c.207-27C= (n.207-27C=)
c.-22-27C= (n.-22-27C=)
c.270-27C= (n.270-27C=)
5g.161411084G>TCA2676313994GABRB2c.459-27C>A (n.459-27C>A)
n.541-27C>A
c.207-27C>A (n.207-27C>A)
c.-22-27C>A (n.-22-27C>A)
c.270-27C>A (n.270-27C>A)
 gnomAD v4
5g.161411086T>CCA2676313995GABRB2c.459-29A>G (n.459-29A>G)
n.541-29A>G
c.207-29A>G (n.207-29A>G)
c.-22-29A>G (n.-22-29A>G)
c.270-29A>G (n.270-29A>G)
 gnomAD v4
5g.161411087G>ACA2578474117GABRB2c.459-30C>T (n.459-30C>T)
n.541-30C>T
c.207-30C>T (n.207-30C>T)
c.-22-30C>T (n.-22-30C>T)
c.270-30C>T (n.270-30C>T)
5g.161411087G=CA1596016663GABRB2c.459-30C= (n.459-30C=)
n.541-30C=
c.207-30C= (n.207-30C=)
c.-22-30C= (n.-22-30C=)
c.270-30C= (n.270-30C=)
5g.161411087G>TCA564136793GABRB2c.459-30C>A (n.459-30C>A)
n.541-30C>A
c.207-30C>A (n.207-30C>A)
c.-22-30C>A (n.-22-30C>A)
c.270-30C>A (n.270-30C>A)
 dbSNP gnomAD v2 gnomAD v4
5g.161411090A>GCA2676313997GABRB2c.459-33T>C (n.459-33T>C)
n.541-33T>C
c.207-33T>C (n.207-33T>C)
c.-22-33T>C (n.-22-33T>C)
c.270-33T>C (n.270-33T>C)
 gnomAD v4
5g.161411092_161411094delCA2676313996GABRB2c.459-35_459-33del (n.459-35_459-33del)
n.541-35_541-33del
c.207-35_207-33del (n.207-35_207-33del)
c.-22-35_-22-33del (n.-22-35_-22-33del)
c.270-35_270-33del (n.270-35_270-33del)
 gnomAD v4
5g.161411091G>ACA564136795GABRB2c.459-34C>T (n.459-34C>T)
n.541-34C>T
c.207-34C>T (n.207-34C>T)
c.-22-34C>T (n.-22-34C>T)
c.270-34C>T (n.270-34C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.161411091G=CA1596016664GABRB2c.459-34C= (n.459-34C=)
n.541-34C=
c.207-34C= (n.207-34C=)
c.-22-34C= (n.-22-34C=)
c.270-34C= (n.270-34C=)
5g.161411091G>TCA2676313998GABRB2c.459-34C>A (n.459-34C>A)
n.541-34C>A
c.207-34C>A (n.207-34C>A)
c.-22-34C>A (n.-22-34C>A)
c.270-34C>A (n.270-34C>A)
 gnomAD v4
5g.161411091_161411092insAGGTAGGGCTATGATAAGTCCAATAAAGCCTAACAGGGCACCCCAAACAGAAAGGGAAAGAAGCAGAATAGCAGGGTTCAAGCCCATTGCCTTACCCATGATCTTTGGCGTTATCACCATATCCATCA2505448050GABRB2c.459-35_459-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT (n.459-35_459-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT)
n.541-35_541-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT
c.207-35_207-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT (n.207-35_207-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT)
c.-22-35_-22-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT (n.-22-35_-22-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT)
c.270-35_270-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT (n.270-35_270-34insATGGATATGGTGATAACGCCAAAGATCATGGGTAAGGCAATGGGCTTGAACCCTGCTATTCTGCTTCTTTCCCTTTCTGTTTGGGGTGCCCTGTTAGGCTTTATTGGACTTATCATAGCCCTACCT)
5g.161411092C>ACA2676313999GABRB2c.459-35G>T (n.459-35G>T)
n.541-35G>T
c.207-35G>T (n.207-35G>T)
c.-22-35G>T (n.-22-35G>T)
c.270-35G>T (n.270-35G>T)
 gnomAD v4
5g.161411092C=CA1596016665GABRB2c.459-35G= (n.459-35G=)
n.541-35G=
c.207-35G= (n.207-35G=)
c.-22-35G= (n.-22-35G=)
c.270-35G= (n.270-35G=)
5g.161411092C>TCA131028746GABRB2c.459-35G>A (n.459-35G>A)
n.541-35G>A
c.207-35G>A (n.207-35G>A)
c.-22-35G>A (n.-22-35G>A)
c.270-35G>A (n.270-35G>A)
 dbSNP gnomAD v4
5g.161411093A>CCA2769166842GABRB2c.459-36T>G (n.459-36T>G)
n.541-36T>G
c.207-36T>G (n.207-36T>G)
c.-22-36T>G (n.-22-36T>G)
c.270-36T>G (n.270-36T>G)
5g.161411094G>CCA650496355GABRB2c.459-37C>G (n.459-37C>G)
n.541-37C>G
c.207-37C>G (n.207-37C>G)
c.-22-37C>G (n.-22-37C>G)
c.270-37C>G (n.270-37C>G)
 COSMIC COSMIC
5g.161411094G>TCA2676314000GABRB2c.459-37C>A (n.459-37C>A)
n.541-37C>A
c.207-37C>A (n.207-37C>A)
c.-22-37C>A (n.-22-37C>A)
c.270-37C>A (n.270-37C>A)
 gnomAD v4

Number of alleles fetched