Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.120632027_120635038delCA2582342871HGDc.1007-1709_1188+1121del
c.286-1709_467+1121del
c.782-1709_963+1121del
c.584-1709_765+1121del
 ClinVar
3g.120633131_120633143delCA2667170810HGDc.1188+4_1188+16del (n.1188+4_1188+16del)
c.467+4_467+16del (n.467+4_467+16del)
c.963+4_963+16del (n.963+4_963+16del)
c.765+4_765+16del (n.765+4_765+16del)
 gnomAD v4
3g.120633143T>CCA2667170811HGDc.1188+4A>G (n.1188+4A>G)
c.467+4A>G (n.467+4A>G)
c.963+4A>G (n.963+4A>G)
c.765+4A>G (n.765+4A>G)
 gnomAD v4
3g.120633144T=CA1397090687HGDc.1188+3A= (n.1188+3A=)
c.467+3A= (n.467+3A=)
c.963+3A= (n.963+3A=)
c.765+3A= (n.765+3A=)
3g.120633145A>CCA354072645HGDc.1188+2T>G (n.1188+2T>G)
c.467+2T>G (n.467+2T>G)
c.963+2T>G (n.963+2T>G)
c.765+2T>G (n.765+2T>G)
3g.120633145A>GCA354072646HGDc.1188+2T>C (n.1188+2T>C)
c.467+2T>C (n.467+2T>C)
c.963+2T>C (n.963+2T>C)
c.765+2T>C (n.765+2T>C)
 gnomAD v4
3g.120633145A>TCA354072647HGDc.1188+2T>A (n.1188+2T>A)
c.467+2T>A (n.467+2T>A)
c.963+2T>A (n.963+2T>A)
c.765+2T>A (n.765+2T>A)
 ClinVar
3g.120633145dupCA1052811489HGDc.1188+2dup (n.1188+2dup)
c.467+2dup (n.467+2dup)
c.963+2dup (n.963+2dup)
c.765+2dup (n.765+2dup)
 dbSNP gnomAD v3 gnomAD v4
3g.120633146C>ACA2559950HGDc.1188+1G>T (n.1188+1G>T)
c.467+1G>T (n.467+1G>T)
c.963+1G>T (n.963+1G>T)
c.765+1G>T (n.765+1G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633146C=CA1397090688HGDc.1188+1G= (n.1188+1G=)
c.467+1G= (n.467+1G=)
c.963+1G= (n.963+1G=)
c.765+1G= (n.765+1G=)
3g.120633146C>GCA354072648HGDc.1188+1G>C (n.1188+1G>C)
c.467+1G>C (n.467+1G>C)
c.963+1G>C (n.963+1G>C)
c.765+1G>C (n.765+1G>C)
 COSMIC
3g.120633146C>TCA2559951HGDc.1188+1G>A (n.1188+1G>A)
c.467+1G>A (n.467+1G>A)
c.963+1G>A (n.963+1G>A)
c.765+1G>A (n.765+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633147C>ACA354072649HGDc.1188G>T (p.Met396Ile)
n.528G>T
c.467G>T (n.467G>T)
c.963G>T (p.Met321Ile)
c.765G>T (p.Met255Ile)
 gnomAD v4
3g.120633147C=CA1397090689HGDc.1188G= (p.Met396=)
n.528G=
c.467G= (n.467G=)
c.963G= (p.Met321=)
c.765G= (p.Met255=)
3g.120633147C>GCA354072650HGDc.1188G>C (p.Met396Ile)
n.528G>C
c.467G>C (n.467G>C)
c.963G>C (p.Met321Ile)
c.765G>C (p.Met255Ile)
3g.120633147C>TCA2559952HGDc.1188G>A (p.Met396Ile)
n.528G>A
c.467G>A (n.467G>A)
c.963G>A (p.Met321Ile)
c.765G>A (p.Met255Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633148A=CA1397090690HGDc.1187T= (p.Met396=)
n.527T=
c.466T= (n.466T=)
c.962T= (p.Met321=)
c.764T= (p.Met255=)
3g.120633148A>CCA354072652HGDc.1187T>G (p.Met396Arg)
n.527T>G
c.466T>G (n.466T>G)
c.962T>G (p.Met321Arg)
c.764T>G (p.Met255Arg)
3g.120633148A>GCA354072653HGDc.1187T>C (p.Met396Thr)
n.527T>C
c.466T>C (n.466T>C)
c.962T>C (p.Met321Thr)
c.764T>C (p.Met255Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.120633148A>TCA354072651HGDc.1187T>A (p.Met396Lys)
n.527T>A
c.466T>A (n.466T>A)
c.962T>A (p.Met321Lys)
c.764T>A (p.Met255Lys)
 gnomAD v4
3g.120633149T>ACA354072654HGDc.1186A>T (p.Met396Leu)
n.526A>T
c.465A>T (n.465A>T)
c.961A>T (p.Met321Leu)
c.763A>T (p.Met255Leu)
3g.120633149T>CCA2559953HGDc.1186A>G (p.Met396Val)
n.526A>G
c.465A>G (n.465A>G)
c.961A>G (p.Met321Val)
c.763A>G (p.Met255Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633149T>GCA354072655HGDc.1186A>C (p.Met396Leu)
n.526A>C
c.465A>C (n.465A>C)
c.961A>C (p.Met321Leu)
c.763A>C (p.Met255Leu)
3g.120633149T=CA1397090691HGDc.1186A= (p.Met396=)
n.526A=
c.465A= (n.465A=)
c.961A= (p.Met321=)
c.763A= (p.Met255=)
3g.120633150G>ACA435225630HGDc.1185C>T (p.Thr395=)
n.525C>T
c.464C>T (n.464C>T)
c.960C>T (p.Thr320=)
c.762C>T (p.Thr254=)
3g.120633150G>CCA435225631HGDc.1185C>G (p.Thr395=)
n.525C>G
c.464C>G (n.464C>G)
c.960C>G (p.Thr320=)
c.762C>G (p.Thr254=)
3g.120633150G>TCA435225633HGDc.1185C>A (p.Thr395=)
n.525C>A
c.464C>A (n.464C>A)
c.960C>A (p.Thr320=)
c.762C>A (p.Thr254=)
3g.120633151delCA2499216401HGDc.1185del (p.Met396TrpfsTer9)
n.525del
c.464del (n.464del)
c.960del (p.Met321TrpfsTer9)
c.762del (p.Met255TrpfsTer9)
 ClinVar dbSNP
3g.120633151G>ACA2559954HGDc.1184C>T (p.Thr395Ile)
n.524C>T
c.463C>T (n.463C>T)
c.959C>T (p.Thr320Ile)
c.761C>T (p.Thr254Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633151G>CCA354072656HGDc.1184C>G (p.Thr395Ser)
n.524C>G
c.463C>G (n.463C>G)
c.959C>G (p.Thr320Ser)
c.761C>G (p.Thr254Ser)
3g.120633151G=CA1397090692HGDc.1184C= (p.Thr395=)
n.524C=
c.463C= (n.463C=)
c.959C= (p.Thr320=)
c.761C= (p.Thr254=)
3g.120633151G>TCA354072657HGDc.1184C>A (p.Thr395Asn)
n.524C>A
c.463C>A (n.463C>A)
c.959C>A (p.Thr320Asn)
c.761C>A (p.Thr254Asn)
3g.120633152T>ACA354072658HGDc.1183A>T (p.Thr395Ser)
n.523A>T
c.462A>T (n.462A>T)
c.958A>T (p.Thr320Ser)
c.760A>T (p.Thr254Ser)
3g.120633152T>CCA354072659HGDc.1183A>G (p.Thr395Ala)
n.523A>G
c.462A>G (n.462A>G)
c.958A>G (p.Thr320Ala)
c.760A>G (p.Thr254Ala)
3g.120633152T>GCA354072660HGDc.1183A>C (p.Thr395Pro)
n.523A>C
c.462A>C (n.462A>C)
c.958A>C (p.Thr320Pro)
c.760A>C (p.Thr254Pro)
 gnomAD v4
3g.120633153G>ACA435225643HGDc.1182C>T (p.Gly394=)
n.522C>T
c.461C>T (n.461C>T)
c.957C>T (p.Gly319=)
c.759C>T (p.Gly253=)
 COSMIC
3g.120633153G>CCA435225645HGDc.1182C>G (p.Gly394=)
n.522C>G
c.461C>G (n.461C>G)
c.957C>G (p.Gly319=)
c.759C>G (p.Gly253=)
3g.120633153G>TCA435225647HGDc.1182C>A (p.Gly394=)
n.522C>A
c.461C>A (n.461C>A)
c.957C>A (p.Gly319=)
c.759C>A (p.Gly253=)
3g.120633154C>ACA354072661HGDc.1181G>T (p.Gly394Val)
n.521G>T
c.460G>T (n.460G>T)
c.956G>T (p.Gly319Val)
c.758G>T (p.Gly253Val)
3g.120633154C>GCA354072662HGDc.1181G>C (p.Gly394Ala)
n.521G>C
c.460G>C (n.460G>C)
c.956G>C (p.Gly319Ala)
c.758G>C (p.Gly253Ala)
3g.120633154C>TCA354072663HGDc.1181G>A (p.Gly394Asp)
n.521G>A
c.460G>A (n.460G>A)
c.956G>A (p.Gly319Asp)
c.758G>A (p.Gly253Asp)
3g.120633155C>ACA354072665HGDc.1180G>T (p.Gly394Cys)
n.520G>T
c.459G>T (n.459G>T)
c.955G>T (p.Gly319Cys)
c.757G>T (p.Gly253Cys)
 COSMIC
3g.120633155C>GCA354072666HGDc.1180G>C (p.Gly394Arg)
n.520G>C
c.459G>C (n.459G>C)
c.955G>C (p.Gly319Arg)
c.757G>C (p.Gly253Arg)
3g.120633155C>TCA354072664HGDc.1180G>A (p.Gly394Ser)
n.520G>A
c.459G>A (n.459G>A)
c.955G>A (p.Gly319Ser)
c.757G>A (p.Gly253Ser)
3g.120633156A=CA1397090693HGDc.1179T= (p.Asp393=)
n.519T=
c.458T= (n.458T=)
c.954T= (p.Asp318=)
c.756T= (p.Asp252=)
3g.120633156A>CCA354072667HGDc.1179T>G (p.Asp393Glu)
n.519T>G
c.458T>G (n.458T>G)
c.954T>G (p.Asp318Glu)
c.756T>G (p.Asp252Glu)
3g.120633156A>GCA2559955HGDc.1179T>C (p.Asp393=)
n.519T>C
c.458T>C (n.458T>C)
c.954T>C (p.Asp318=)
c.756T>C (p.Asp252=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633156A>TCA354072668HGDc.1179T>A (p.Asp393Glu)
n.519T>A
c.458T>A (n.458T>A)
c.954T>A (p.Asp318Glu)
c.756T>A (p.Asp252Glu)
3g.120633157T>ACA354072669HGDc.1178A>T (p.Asp393Val)
n.518A>T
c.457A>T (n.457A>T)
c.953A>T (p.Asp318Val)
c.755A>T (p.Asp252Val)
3g.120633157T>CCA354072670HGDc.1178A>G (p.Asp393Gly)
n.518A>G
c.457A>G (n.457A>G)
c.953A>G (p.Asp318Gly)
c.755A>G (p.Asp252Gly)
3g.120633157T>GCA81777883HGDc.1178A>C (p.Asp393Ala)
n.518A>C
c.457A>C (n.457A>C)
c.953A>C (p.Asp318Ala)
c.755A>C (p.Asp252Ala)
 dbSNP
3g.120633157T=CA1397090694HGDc.1178A= (p.Asp393=)
n.518A=
c.457A= (n.457A=)
c.953A= (p.Asp318=)
c.755A= (p.Asp252=)
3g.120633158C>ACA354072671HGDc.1177G>T (p.Asp393Tyr)
n.517G>T
c.456G>T (n.456G>T)
c.952G>T (p.Asp318Tyr)
c.754G>T (p.Asp252Tyr)
 dbSNP gnomAD v4
3g.120633158C=CA1397090695HGDc.1177G= (p.Asp393=)
n.517G=
c.456G= (n.456G=)
c.952G= (p.Asp318=)
c.754G= (p.Asp252=)
3g.120633158C>GCA354072672HGDc.1177G>C (p.Asp393His)
n.517G>C
c.456G>C (n.456G>C)
c.952G>C (p.Asp318His)
c.754G>C (p.Asp252His)
 dbSNP gnomAD v3 gnomAD v4
3g.120633158C>TCA2559956HGDc.1177G>A (p.Asp393Asn)
n.517G>A
c.456G>A (n.456G>A)
c.952G>A (p.Asp318Asn)
c.754G>A (p.Asp252Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.120633159G>ACA2559957HGDc.1176C>T (p.Ala392=)
n.516C>T
c.455C>T (n.455C>T)
c.951C>T (p.Ala317=)
c.753C>T (p.Ala251=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633159G>CCA435225669HGDc.1176C>G (p.Ala392=)
n.516C>G
c.455C>G (n.455C>G)
c.951C>G (p.Ala317=)
c.753C>G (p.Ala251=)
3g.120633159G=CA1397090696HGDc.1176C= (p.Ala392=)
n.516C=
c.455C= (n.455C=)
c.951C= (p.Ala317=)
c.753C= (p.Ala251=)
3g.120633159G>TCA435225671HGDc.1176C>A (p.Ala392=)
n.516C>A
c.455C>A (n.455C>A)
c.951C>A (p.Ala317=)
c.753C>A (p.Ala251=)
3g.120633160G>ACA354072673HGDc.1175C>T (p.Ala392Val)
n.515C>T
c.454C>T (n.454C>T)
c.950C>T (p.Ala317Val)
c.752C>T (p.Ala251Val)
3g.120633160G>CCA354072674HGDc.1175C>G (p.Ala392Gly)
n.515C>G
c.454C>G (n.454C>G)
c.950C>G (p.Ala317Gly)
c.752C>G (p.Ala251Gly)
 dbSNP
3g.120633160G=CA1397090697HGDc.1175C= (p.Ala392=)
n.515C=
c.454C= (n.454C=)
c.950C= (p.Ala317=)
c.752C= (p.Ala251=)
3g.120633160G>TCA354072675HGDc.1175C>A (p.Ala392Asp)
n.515C>A
c.454C>A (n.454C>A)
c.950C>A (p.Ala317Asp)
c.752C>A (p.Ala251Asp)
3g.120633161C>ACA354072678HGDc.1174G>T (p.Ala392Ser)
n.514G>T
c.453G>T (n.453G>T)
c.949G>T (p.Ala317Ser)
c.751G>T (p.Ala251Ser)
3g.120633161C>GCA354072677HGDc.1174G>C (p.Ala392Pro)
n.514G>C
c.453G>C (n.453G>C)
c.949G>C (p.Ala317Pro)
c.751G>C (p.Ala251Pro)
 gnomAD v4
3g.120633161C>TCA354072676HGDc.1174G>A (p.Ala392Thr)
n.514G>A
c.453G>A (n.453G>A)
c.949G>A (p.Ala317Thr)
c.751G>A (p.Ala251Thr)
 COSMIC
3g.120633162A>CCA354072679HGDc.1173T>G (p.Ile391Met)
n.513T>G
c.452T>G (n.452T>G)
c.948T>G (p.Ile316Met)
c.750T>G (p.Ile250Met)
3g.120633162A>GCA435225683HGDc.1173T>C (p.Ile391=)
n.513T>C
c.452T>C (n.452T>C)
c.948T>C (p.Ile316=)
c.750T>C (p.Ile250=)
3g.120633162A>TCA435225685HGDc.1173T>A (p.Ile391=)
n.513T>A
c.452T>A (n.452T>A)
c.948T>A (p.Ile316=)
c.750T>A (p.Ile250=)
3g.120633163A=CA1397090698HGDc.1172T= (p.Ile391=)
n.512T=
c.451T= (n.451T=)
c.947T= (p.Ile316=)
c.749T= (p.Ile250=)
3g.120633163A>CCA354072681HGDc.1172T>G (p.Ile391Ser)
n.512T>G
c.451T>G (n.451T>G)
c.947T>G (p.Ile316Ser)
c.749T>G (p.Ile250Ser)
3g.120633163A>GCA2559958HGDc.1172T>C (p.Ile391Thr)
n.512T>C
c.451T>C (n.451T>C)
c.947T>C (p.Ile316Thr)
c.749T>C (p.Ile250Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633163A>TCA354072680HGDc.1172T>A (p.Ile391Asn)
n.512T>A
c.451T>A (n.451T>A)
c.947T>A (p.Ile316Asn)
c.749T>A (p.Ile250Asn)
3g.120633164T>ACA354072682HGDc.1171A>T (p.Ile391Phe)
n.511A>T
c.450A>T (n.450A>T)
c.946A>T (p.Ile316Phe)
c.748A>T (p.Ile250Phe)
3g.120633164T>CCA354072683HGDc.1171A>G (p.Ile391Val)
n.511A>G
c.450A>G (n.450A>G)
c.946A>G (p.Ile316Val)
c.748A>G (p.Ile250Val)
3g.120633164T>GCA354072684HGDc.1171A>C (p.Ile391Leu)
n.511A>C
c.450A>C (n.450A>C)
c.946A>C (p.Ile316Leu)
c.748A>C (p.Ile250Leu)
3g.120633165C>ACA354072685HGDc.1170G>T (p.Arg390Ser)
n.510G>T
c.449G>T (n.449G>T)
c.945G>T (p.Arg315Ser)
c.747G>T (p.Arg249Ser)
 COSMIC
3g.120633165C>GCA354072686HGDc.1170G>C (p.Arg390Ser)
n.510G>C
c.449G>C (n.449G>C)
c.945G>C (p.Arg315Ser)
c.747G>C (p.Arg249Ser)
3g.120633165C>TCA435225694HGDc.1170G>A (p.Arg390=)
n.510G>A
c.449G>A (n.449G>A)
c.945G>A (p.Arg315=)
c.747G>A (p.Arg249=)
3g.120633166C>ACA354072687HGDc.1169G>T (p.Arg390Met)
n.509G>T
c.448G>T (n.448G>T)
c.944G>T (p.Arg315Met)
c.746G>T (p.Arg249Met)
3g.120633166C>GCA354072689HGDc.1169G>C (p.Arg390Thr)
n.509G>C
c.448G>C (n.448G>C)
c.944G>C (p.Arg315Thr)
c.746G>C (p.Arg249Thr)
3g.120633166C>TCA354072688HGDc.1169G>A (p.Arg390Lys)
n.509G>A
c.448G>A (n.448G>A)
c.944G>A (p.Arg315Lys)
c.746G>A (p.Arg249Lys)
3g.120633167T>ACA354072690HGDc.1168A>T (p.Arg390Trp)
n.508A>T
c.447A>T (n.447A>T)
c.943A>T (p.Arg315Trp)
c.745A>T (p.Arg249Trp)
3g.120633167T>CCA354072691HGDc.1168A>G (p.Arg390Gly)
n.508A>G
c.447A>G (n.447A>G)
c.943A>G (p.Arg315Gly)
c.745A>G (p.Arg249Gly)
3g.120633167T>GCA435225702HGDc.1168A>C (p.Arg390=)
n.508A>C
c.447A>C (n.447A>C)
c.943A>C (p.Arg315=)
c.745A>C (p.Arg249=)
3g.120633168C>ACA354072692HGDc.1167G>T (p.Glu389Asp)
n.507G>T
c.446G>T (n.446G>T)
c.942G>T (p.Glu314Asp)
c.744G>T (p.Glu248Asp)
3g.120633168C=CA1397090699HGDc.1167G= (p.Glu389=)
n.507G=
c.446G= (n.446G=)
c.942G= (p.Glu314=)
c.744G= (p.Glu248=)
3g.120633168C>GCA354072693HGDc.1167G>C (p.Glu389Asp)
n.507G>C
c.446G>C (n.446G>C)
c.942G>C (p.Glu314Asp)
c.744G>C (p.Glu248Asp)
3g.120633168C>TCA435225706HGDc.1167G>A (p.Glu389=)
n.507G>A
c.446G>A (n.446G>A)
c.942G>A (p.Glu314=)
c.744G>A (p.Glu248=)
 dbSNP gnomAD v4
3g.120633169T>ACA354072694HGDc.1166A>T (p.Glu389Val)
n.506A>T
c.445A>T (n.445A>T)
c.941A>T (p.Glu314Val)
c.743A>T (p.Glu248Val)
3g.120633169T>CCA354072696HGDc.1166A>G (p.Glu389Gly)
n.506A>G
c.445A>G (n.445A>G)
c.941A>G (p.Glu314Gly)
c.743A>G (p.Glu248Gly)
 dbSNP
3g.120633169T>GCA354072695HGDc.1166A>C (p.Glu389Ala)
n.506A>C
c.445A>C (n.445A>C)
c.941A>C (p.Glu314Ala)
c.743A>C (p.Glu248Ala)
3g.120633169T=CA1397090700HGDc.1166A= (p.Glu389=)
n.506A=
c.445A= (n.445A=)
c.941A= (p.Glu314=)
c.743A= (p.Glu248=)
3g.120633170C>ACA354072697HGDc.1165G>T (p.Glu389Ter)
n.505G>T
c.444G>T (n.444G>T)
c.940G>T (p.Glu314Ter)
c.742G>T (p.Glu248Ter)
3g.120633170C=CA1397090701HGDc.1165G= (p.Glu389=)
n.505G=
c.444G= (n.444G=)
c.940G= (p.Glu314=)
c.742G= (p.Glu248=)
3g.120633170C>GCA354072698HGDc.1165G>C (p.Glu389Gln)
n.505G>C
c.444G>C (n.444G>C)
c.940G>C (p.Glu314Gln)
c.742G>C (p.Glu248Gln)
 dbSNP
3g.120633170C>TCA354072699HGDc.1165G>A (p.Glu389Lys)
n.505G>A
c.444G>A (n.444G>A)
c.940G>A (p.Glu314Lys)
c.742G>A (p.Glu248Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633171A=CA1397090702HGDc.1164T= (p.Pro388=)
n.504T=
c.443T= (n.443T=)
c.939T= (p.Pro313=)
c.741T= (p.Pro247=)
3g.120633171A>CCA435225714HGDc.1164T>G (p.Pro388=)
n.504T>G
c.443T>G (n.443T>G)
c.939T>G (p.Pro313=)
c.741T>G (p.Pro247=)
3g.120633171A>GCA2559959HGDc.1164T>C (p.Pro388=)
n.504T>C
c.443T>C (n.443T>C)
c.939T>C (p.Pro313=)
c.741T>C (p.Pro247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633171A>TCA435225717HGDc.1164T>A (p.Pro388=)
n.504T>A
c.443T>A (n.443T>A)
c.939T>A (p.Pro313=)
c.741T>A (p.Pro247=)
3g.120633172G>ACA354072700HGDc.1163C>T (p.Pro388Leu)
n.503C>T
c.442C>T (n.442C>T)
c.938C>T (p.Pro313Leu)
c.740C>T (p.Pro247Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.120633172G>CCA354072701HGDc.1163C>G (p.Pro388Arg)
n.503C>G
c.442C>G (n.442C>G)
c.938C>G (p.Pro313Arg)
c.740C>G (p.Pro247Arg)
3g.120633172G=CA1397090703HGDc.1163C= (p.Pro388=)
n.503C=
c.442C= (n.442C=)
c.938C= (p.Pro313=)
c.740C= (p.Pro247=)
3g.120633172G>TCA354072702HGDc.1163C>A (p.Pro388His)
n.503C>A
c.442C>A (n.442C>A)
c.938C>A (p.Pro313His)
c.740C>A (p.Pro247His)
3g.120633172_120633176delinsGGTGCCA1397090704HGDc.1159_1163delinsGCACC (p.Ala387=)
n.499_503delinsGCACC
c.438_442delinsGCACC (n.438_442delinsGCACC)
c.934_938delinsGCACC (p.Ala312=)
c.736_740delinsGCACC (p.Ala246=)
3g.120633173G>ACA2559960HGDc.1162C>T (p.Pro388Ser)
n.502C>T
c.441C>T (n.441C>T)
c.937C>T (p.Pro313Ser)
c.739C>T (p.Pro247Ser)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
3g.120633173G>CCA354072703HGDc.1162C>G (p.Pro388Ala)
n.502C>G
c.441C>G (n.441C>G)
c.937C>G (p.Pro313Ala)
c.739C>G (p.Pro247Ala)
3g.120633173G=CA1397090706HGDc.1162C= (p.Pro388=)
n.502C=
c.441C= (n.441C=)
c.937C= (p.Pro313=)
c.739C= (p.Pro247=)
3g.120633173G>TCA354072704HGDc.1162C>A (p.Pro388Thr)
n.502C>A
c.441C>A (n.441C>A)
c.937C>A (p.Pro313Thr)
c.739C>A (p.Pro247Thr)
3g.120633173_120633176delCA1397090705HGDc.1159_1162del (p.Ala387LeufsTer17)
n.499_502del
c.438_441del (n.438_441del)
c.934_937del (p.Ala312LeufsTer17)
c.736_739del (p.Ala246LeufsTer17)
 dbSNP
3g.120633174T>ACA435225728HGDc.1161A>T (p.Ala387=)
n.501A>T
c.440A>T (n.440A>T)
c.936A>T (p.Ala312=)
c.738A>T (p.Ala246=)
3g.120633174T>CCA435225729HGDc.1161A>G (p.Ala387=)
n.501A>G
c.440A>G (n.440A>G)
c.936A>G (p.Ala312=)
c.738A>G (p.Ala246=)
3g.120633174T>GCA435225730HGDc.1161A>C (p.Ala387=)
n.501A>C
c.440A>C (n.440A>C)
c.936A>C (p.Ala312=)
c.738A>C (p.Ala246=)
3g.120633174_120633178delinsTGCCACA1397090707HGDc.1157_1161delinsTGGCA (p.Leu386=)
n.497_501delinsTGGCA
c.436_440delinsTGGCA (n.436_440delinsTGGCA)
c.932_936delinsTGGCA (p.Leu311=)
c.734_738delinsTGGCA (p.Leu245=)
3g.120633175G>ACA354072706HGDc.1160C>T (p.Ala387Val)
n.500C>T
c.439C>T (n.439C>T)
c.935C>T (p.Ala312Val)
c.737C>T (p.Ala246Val)
 dbSNP
3g.120633175G>CCA354072707HGDc.1160C>G (p.Ala387Gly)
n.500C>G
c.439C>G (n.439C>G)
c.935C>G (p.Ala312Gly)
c.737C>G (p.Ala246Gly)
3g.120633175G=CA1397090708HGDc.1160C= (p.Ala387=)
n.500C=
c.439C= (n.439C=)
c.935C= (p.Ala312=)
c.737C= (p.Ala246=)
3g.120633175G>TCA354072705HGDc.1160C>A (p.Ala387Glu)
n.500C>A
c.439C>A (n.439C>A)
c.935C>A (p.Ala312Glu)
c.737C>A (p.Ala246Glu)
3g.120633177_120633180delCA2559961HGDc.1157_1160del (p.Leu386HisfsTer18)
n.497_500del
c.436_439del (n.436_439del)
c.932_935del (p.Leu311HisfsTer18)
c.734_737del (p.Leu245HisfsTer18)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633176C>ACA354072708HGDc.1159G>T (p.Ala387Ser)
n.499G>T
c.438G>T (n.438G>T)
c.934G>T (p.Ala312Ser)
c.736G>T (p.Ala246Ser)
 dbSNP gnomAD v3 gnomAD v4
3g.120633176C=CA1397090709HGDc.1159G= (p.Ala387=)
n.499G=
c.438G= (n.438G=)
c.934G= (p.Ala312=)
c.736G= (p.Ala246=)
3g.120633176C>GCA354072709HGDc.1159G>C (p.Ala387Pro)
n.499G>C
c.438G>C (n.438G>C)
c.934G>C (p.Ala312Pro)
c.736G>C (p.Ala246Pro)
3g.120633176C>TCA354072710HGDc.1159G>A (p.Ala387Thr)
n.499G>A
c.438G>A (n.438G>A)
c.934G>A (p.Ala312Thr)
c.736G>A (p.Ala246Thr)
 dbSNP
3g.120633177C>ACA435225736HGDc.1158G>T (p.Leu386=)
n.498G>T
c.437G>T (n.437G>T)
c.933G>T (p.Leu311=)
c.735G>T (p.Leu245=)
3g.120633177C>GCA435225737HGDc.1158G>C (p.Leu386=)
n.498G>C
c.437G>C (n.437G>C)
c.933G>C (p.Leu311=)
c.735G>C (p.Leu245=)
3g.120633177C>TCA435225739HGDc.1158G>A (p.Leu386=)
n.498G>A
c.437G>A (n.437G>A)
c.933G>A (p.Leu311=)
c.735G>A (p.Leu245=)
3g.120633178A=CA1397090710HGDc.1157T= (p.Leu386=)
n.497T=
c.436T= (n.436T=)
c.932T= (p.Leu311=)
c.734T= (p.Leu245=)
3g.120633178A>CCA354072711HGDc.1157T>G (p.Leu386Arg)
n.497T>G
c.436T>G (n.436T>G)
c.932T>G (p.Leu311Arg)
c.734T>G (p.Leu245Arg)
3g.120633178A>GCA2559962HGDc.1157T>C (p.Leu386Pro)
n.497T>C
c.436T>C (n.436T>C)
c.932T>C (p.Leu311Pro)
c.734T>C (p.Leu245Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633178A>TCA354072712HGDc.1157T>A (p.Leu386Gln)
n.497T>A
c.436T>A (n.436T>A)
c.932T>A (p.Leu311Gln)
c.734T>A (p.Leu245Gln)
3g.120633179G>ACA435225749HGDc.1156C>T (p.Leu386=)
n.496C>T
c.435C>T (n.435C>T)
c.931C>T (p.Leu311=)
c.733C>T (p.Leu245=)
3g.120633179G>CCA354072713HGDc.1156C>G (p.Leu386Val)
n.496C>G
c.435C>G (n.435C>G)
c.931C>G (p.Leu311Val)
c.733C>G (p.Leu245Val)
 gnomAD v4
3g.120633179G>TCA354072714HGDc.1156C>A (p.Leu386Met)
n.496C>A
c.435C>A (n.435C>A)
c.931C>A (p.Leu311Met)
c.733C>A (p.Leu245Met)
3g.120633180C>ACA354072715HGDc.1155G>T (p.Lys385Asn)
n.495G>T
c.434G>T (n.434G>T)
c.930G>T (p.Lys310Asn)
c.732G>T (p.Lys244Asn)
3g.120633180C>GCA354072716HGDc.1155G>C (p.Lys385Asn)
n.495G>C
c.434G>C (n.434G>C)
c.930G>C (p.Lys310Asn)
c.732G>C (p.Lys244Asn)
3g.120633180C>TCA435225755HGDc.1155G>A (p.Lys385=)
n.495G>A
c.434G>A (n.434G>A)
c.930G>A (p.Lys310=)
c.732G>A (p.Lys244=)
 gnomAD v4
3g.120633181T>ACA354072717HGDc.1154A>T (p.Lys385Met)
n.494A>T
c.433A>T (n.433A>T)
c.929A>T (p.Lys310Met)
c.731A>T (p.Lys244Met)
3g.120633181T>CCA354072718HGDc.1154A>G (p.Lys385Arg)
n.494A>G
c.433A>G (n.433A>G)
c.929A>G (p.Lys310Arg)
c.731A>G (p.Lys244Arg)
 dbSNP COSMIC
3g.120633181T>GCA2559963HGDc.1154A>C (p.Lys385Thr)
n.494A>C
c.433A>C (n.433A>C)
c.929A>C (p.Lys310Thr)
c.731A>C (p.Lys244Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633181T=CA1397090711HGDc.1154A= (p.Lys385=)
n.494A=
c.433A= (n.433A=)
c.929A= (p.Lys310=)
c.731A= (p.Lys244=)
3g.120633182T>ACA354072721HGDc.1153A>T (p.Lys385Ter)
n.493A>T
c.432A>T (n.432A>T)
c.928A>T (p.Lys310Ter)
c.730A>T (p.Lys244Ter)
3g.120633182T>CCA354072720HGDc.1153A>G (p.Lys385Glu)
n.493A>G
c.432A>G (n.432A>G)
c.928A>G (p.Lys310Glu)
c.730A>G (p.Lys244Glu)
 dbSNP
3g.120633182T>GCA354072719HGDc.1153A>C (p.Lys385Gln)
n.493A>C
c.432A>C (n.432A>C)
c.928A>C (p.Lys310Gln)
c.730A>C (p.Lys244Gln)
3g.120633182T=CA1397090712HGDc.1153A= (p.Lys385=)
n.493A=
c.432A= (n.432A=)
c.928A= (p.Lys310=)
c.730A= (p.Lys244=)
3g.120633183G>ACA2559964HGDc.1152C>T (p.Val384=)
n.492C>T
c.431C>T (n.431C>T)
c.927C>T (p.Val309=)
c.729C>T (p.Val243=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633183G>CCA435225767HGDc.1152C>G (p.Val384=)
n.492C>G
c.431C>G (n.431C>G)
c.927C>G (p.Val309=)
c.729C>G (p.Val243=)
3g.120633183G=CA1397090713HGDc.1152C= (p.Val384=)
n.492C=
c.431C= (n.431C=)
c.927C= (p.Val309=)
c.729C= (p.Val243=)
3g.120633183G>TCA435225769HGDc.1152C>A (p.Val384=)
n.492C>A
c.431C>A (n.431C>A)
c.927C>A (p.Val309=)
c.729C>A (p.Val243=)
3g.120633184A>CCA354072722HGDc.1151T>G (p.Val384Gly)
n.491T>G
c.430T>G (n.430T>G)
c.926T>G (p.Val309Gly)
c.728T>G (p.Val243Gly)
3g.120633184A>GCA354072723HGDc.1151T>C (p.Val384Ala)
n.491T>C
c.430T>C (n.430T>C)
c.926T>C (p.Val309Ala)
c.728T>C (p.Val243Ala)
 dbSNP
3g.120633184A>TCA354072724HGDc.1151T>A (p.Val384Asp)
n.491T>A
c.430T>A (n.430T>A)
c.926T>A (p.Val309Asp)
c.728T>A (p.Val243Asp)
3g.120633185C>ACA354072725HGDc.1150G>T (p.Val384Phe)
n.490G>T
c.429G>T (n.429G>T)
c.925G>T (p.Val309Phe)
c.727G>T (p.Val243Phe)
3g.120633185C>GCA354072726HGDc.1150G>C (p.Val384Leu)
n.490G>C
c.429G>C (n.429G>C)
c.925G>C (p.Val309Leu)
c.727G>C (p.Val243Leu)
3g.120633185C>TCA354072727HGDc.1150G>A (p.Val384Ile)
n.490G>A
c.429G>A (n.429G>A)
c.925G>A (p.Val309Ile)
c.727G>A (p.Val243Ile)
 gnomAD v4
3g.120633186C>ACA354072728HGDc.1149G>T (p.Lys383Asn)
n.489G>T
c.428G>T (n.428G>T)
c.924G>T (p.Lys308Asn)
c.726G>T (p.Lys242Asn)
3g.120633186C>GCA354072729HGDc.1149G>C (p.Lys383Asn)
n.489G>C
c.428G>C (n.428G>C)
c.924G>C (p.Lys308Asn)
c.726G>C (p.Lys242Asn)
3g.120633186C>TCA435225782HGDc.1149G>A (p.Lys383=)
n.489G>A
c.428G>A (n.428G>A)
c.924G>A (p.Lys308=)
c.726G>A (p.Lys242=)
3g.120633187T>ACA354072730HGDc.1148A>T (p.Lys383Met)
n.488A>T
c.427A>T (n.427A>T)
c.923A>T (p.Lys308Met)
c.725A>T (p.Lys242Met)
3g.120633187T>CCA354072731HGDc.1148A>G (p.Lys383Arg)
n.488A>G
c.427A>G (n.427A>G)
c.923A>G (p.Lys308Arg)
c.725A>G (p.Lys242Arg)
3g.120633187T>GCA354072732HGDc.1148A>C (p.Lys383Thr)
n.488A>C
c.427A>C (n.427A>C)
c.923A>C (p.Lys308Thr)
c.725A>C (p.Lys242Thr)
3g.120633188T>ACA354072735HGDc.1147A>T (p.Lys383Ter)
n.487A>T
c.426A>T (n.426A>T)
c.922A>T (p.Lys308Ter)
c.724A>T (p.Lys242Ter)
3g.120633188T>CCA354072734HGDc.1147A>G (p.Lys383Glu)
n.487A>G
c.426A>G (n.426A>G)
c.922A>G (p.Lys308Glu)
c.724A>G (p.Lys242Glu)
3g.120633188T>GCA354072733HGDc.1147A>C (p.Lys383Gln)
n.487A>C
c.426A>C (n.426A>C)
c.922A>C (p.Lys308Gln)
c.724A>C (p.Lys242Gln)
3g.120633189G>ACA435225795HGDc.1146C>T (p.Ser382=)
n.486C>T
c.425C>T (n.425C>T)
c.921C>T (p.Ser307=)
c.723C>T (p.Ser241=)
3g.120633189G>CCA354072736HGDc.1146C>G (p.Ser382Arg)
n.486C>G
c.425C>G (n.425C>G)
c.921C>G (p.Ser307Arg)
c.723C>G (p.Ser241Arg)
3g.120633189G>TCA354072737HGDc.1146C>A (p.Ser382Arg)
n.486C>A
c.425C>A (n.425C>A)
c.921C>A (p.Ser307Arg)
c.723C>A (p.Ser241Arg)
3g.120633190C>ACA354072738HGDc.1145G>T (p.Ser382Ile)
n.485G>T
c.424G>T (n.424G>T)
c.920G>T (p.Ser307Ile)
c.722G>T (p.Ser241Ile)
 gnomAD v4
3g.120633190C>GCA354072739HGDc.1145G>C (p.Ser382Thr)
n.485G>C
c.424G>C (n.424G>C)
c.920G>C (p.Ser307Thr)
c.722G>C (p.Ser241Thr)
3g.120633190C>TCA354072740HGDc.1145G>A (p.Ser382Asn)
n.485G>A
c.424G>A (n.424G>A)
c.920G>A (p.Ser307Asn)
c.722G>A (p.Ser241Asn)
 gnomAD v4
3g.120633191T>ACA354072741HGDc.1144A>T (p.Ser382Cys)
n.484A>T
c.423A>T (n.423A>T)
c.919A>T (p.Ser307Cys)
c.721A>T (p.Ser241Cys)
3g.120633191T>CCA354072742HGDc.1144A>G (p.Ser382Gly)
n.484A>G
c.423A>G (n.423A>G)
c.919A>G (p.Ser307Gly)
c.721A>G (p.Ser241Gly)
3g.120633191T>GCA354072743HGDc.1144A>C (p.Ser382Arg)
n.484A>C
c.423A>C (n.423A>C)
c.919A>C (p.Ser307Arg)
c.721A>C (p.Ser241Arg)
 gnomAD v4
3g.120633192G>ACA435225806HGDc.1143C>T (p.Ala381=)
n.483C>T
c.422C>T (n.422C>T)
c.918C>T (p.Ala306=)
c.720C>T (p.Ala240=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633192G>CCA435225807HGDc.1143C>G (p.Ala381=)
n.483C>G
c.422C>G (n.422C>G)
c.918C>G (p.Ala306=)
c.720C>G (p.Ala240=)
3g.120633192G=CA1397090714HGDc.1143C= (p.Ala381=)
n.483C=
c.422C= (n.422C=)
c.918C= (p.Ala306=)
c.720C= (p.Ala240=)
3g.120633192G>TCA435225809HGDc.1143C>A (p.Ala381=)
n.483C>A
c.422C>A (n.422C>A)
c.918C>A (p.Ala306=)
c.720C>A (p.Ala240=)
3g.120633193G>ACA354072746HGDc.1142C>T (p.Ala381Val)
n.482C>T
c.421C>T (n.421C>T)
c.917C>T (p.Ala306Val)
c.719C>T (p.Ala240Val)
3g.120633193G>CCA354072744HGDc.1142C>G (p.Ala381Gly)
n.482C>G
c.421C>G (n.421C>G)
c.917C>G (p.Ala306Gly)
c.719C>G (p.Ala240Gly)
3g.120633193G>TCA354072745HGDc.1142C>A (p.Ala381Asp)
n.482C>A
c.421C>A (n.421C>A)
c.917C>A (p.Ala306Asp)
c.719C>A (p.Ala240Asp)
 gnomAD v4
3g.120633194C>ACA354072747HGDc.1141G>T (p.Ala381Ser)
n.481G>T
c.420G>T (n.420G>T)
c.916G>T (p.Ala306Ser)
c.718G>T (p.Ala240Ser)
 dbSNP gnomAD v4
3g.120633194C=CA1397090715HGDc.1141G= (p.Ala381=)
n.481G=
c.420G= (n.420G=)
c.916G= (p.Ala306=)
c.718G= (p.Ala240=)
3g.120633194C>GCA354072748HGDc.1141G>C (p.Ala381Pro)
n.481G>C
c.420G>C (n.420G>C)
c.916G>C (p.Ala306Pro)
c.718G>C (p.Ala240Pro)
3g.120633194C>TCA354072749HGDc.1141G>A (p.Ala381Thr)
n.481G>A
c.420G>A (n.420G>A)
c.916G>A (p.Ala306Thr)
c.718G>A (p.Ala240Thr)
 gnomAD v4
3g.120633195C>ACA354072750HGDc.1140G>T (p.Lys380Asn)
n.480G>T
c.419G>T (n.419G>T)
c.915G>T (p.Lys305Asn)
c.717G>T (p.Lys239Asn)
3g.120633195C>GCA354072751HGDc.1140G>C (p.Lys380Asn)
n.480G>C
c.419G>C (n.419G>C)
c.915G>C (p.Lys305Asn)
c.717G>C (p.Lys239Asn)
3g.120633195C>TCA435225816HGDc.1140G>A (p.Lys380=)
n.480G>A
c.419G>A (n.419G>A)
c.915G>A (p.Lys305=)
c.717G>A (p.Lys239=)
3g.120633196T>ACA354072752HGDc.1139A>T (p.Lys380Met)
n.479A>T
c.418A>T (n.418A>T)
c.914A>T (p.Lys305Met)
c.716A>T (p.Lys239Met)
3g.120633196T>CCA354072754HGDc.1139A>G (p.Lys380Arg)
n.479A>G
c.418A>G (n.418A>G)
c.914A>G (p.Lys305Arg)
c.716A>G (p.Lys239Arg)
3g.120633196T>GCA354072753HGDc.1139A>C (p.Lys380Thr)
n.479A>C
c.418A>C (n.418A>C)
c.914A>C (p.Lys305Thr)
c.716A>C (p.Lys239Thr)
3g.120633197T>ACA354072755HGDc.1138A>T (p.Lys380Ter)
n.478A>T
c.417A>T (n.417A>T)
c.913A>T (p.Lys305Ter)
c.715A>T (p.Lys239Ter)
3g.120633197T>CCA354072756HGDc.1138A>G (p.Lys380Glu)
n.478A>G
c.417A>G (n.417A>G)
c.913A>G (p.Lys305Glu)
c.715A>G (p.Lys239Glu)
3g.120633197T>GCA354072757HGDc.1138A>C (p.Lys380Gln)
n.478A>C
c.417A>C (n.417A>C)
c.913A>C (p.Lys305Gln)
c.715A>C (p.Lys239Gln)
3g.120633198C>ACA354072758HGDc.1137G>T (p.Glu379Asp)
n.477G>T
c.416G>T (n.416G>T)
c.912G>T (p.Glu304Asp)
c.714G>T (p.Glu238Asp)
3g.120633198C>GCA354072759HGDc.1137G>C (p.Glu379Asp)
n.477G>C
c.416G>C (n.416G>C)
c.912G>C (p.Glu304Asp)
c.714G>C (p.Glu238Asp)
3g.120633198C>TCA435225824HGDc.1137G>A (p.Glu379=)
n.477G>A
c.416G>A (n.416G>A)
c.912G>A (p.Glu304=)
c.714G>A (p.Glu238=)
3g.120633199T>ACA354072760HGDc.1136A>T (p.Glu379Val)
n.476A>T
c.415A>T (n.415A>T)
c.911A>T (p.Glu304Val)
c.713A>T (p.Glu238Val)
3g.120633199T>CCA354072761HGDc.1136A>G (p.Glu379Gly)
n.476A>G
c.415A>G (n.415A>G)
c.911A>G (p.Glu304Gly)
c.713A>G (p.Glu238Gly)
 gnomAD v4
3g.120633199T>GCA354072762HGDc.1136A>C (p.Glu379Ala)
n.476A>C
c.415A>C (n.415A>C)
c.911A>C (p.Glu304Ala)
c.713A>C (p.Glu238Ala)
3g.120633200C>ACA354072763HGDc.1135G>T (p.Glu379Ter)
n.475G>T
c.414G>T (n.414G>T)
c.910G>T (p.Glu304Ter)
c.712G>T (p.Glu238Ter)
3g.120633200C=CA1397090716HGDc.1135G= (p.Glu379=)
n.475G=
c.414G= (n.414G=)
c.910G= (p.Glu304=)
c.712G= (p.Glu238=)
3g.120633200C>GCA2559965HGDc.1135G>C (p.Glu379Gln)
n.475G>C
c.414G>C (n.414G>C)
c.910G>C (p.Glu304Gln)
c.712G>C (p.Glu238Gln)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.120633200C>TCA354072764HGDc.1135G>A (p.Glu379Lys)
n.475G>A
c.414G>A (n.414G>A)
c.910G>A (p.Glu304Lys)
c.712G>A (p.Glu238Lys)
3g.120633201A>CCA354072765HGDc.1134T>G (p.Phe378Leu)
n.474T>G
c.413T>G (n.413T>G)
c.909T>G (p.Phe303Leu)
c.711T>G (p.Phe237Leu)
3g.120633201A>GCA435225836HGDc.1134T>C (p.Phe378=)
n.474T>C
c.413T>C (n.413T>C)
c.909T>C (p.Phe303=)
c.711T>C (p.Phe237=)
3g.120633201A>TCA354072766HGDc.1134T>A (p.Phe378Leu)
n.474T>A
c.413T>A (n.413T>A)
c.909T>A (p.Phe303Leu)
c.711T>A (p.Phe237Leu)
3g.120633202A>CCA354072767HGDc.1133T>G (p.Phe378Cys)
n.473T>G
c.412T>G (n.412T>G)
c.908T>G (p.Phe303Cys)
c.710T>G (p.Phe237Cys)
3g.120633202A>GCA354072768HGDc.1133T>C (p.Phe378Ser)
n.473T>C
c.412T>C (n.412T>C)
c.908T>C (p.Phe303Ser)
c.710T>C (p.Phe237Ser)
3g.120633202A>TCA354072769HGDc.1133T>A (p.Phe378Tyr)
n.473T>A
c.412T>A (n.412T>A)
c.908T>A (p.Phe303Tyr)
c.710T>A (p.Phe237Tyr)
3g.120633203A>CCA354072770HGDc.1132T>G (p.Phe378Val)
n.472T>G
c.411T>G (n.411T>G)
c.907T>G (p.Phe303Val)
c.709T>G (p.Phe237Val)
3g.120633203A>GCA354072771HGDc.1132T>C (p.Phe378Leu)
n.472T>C
c.411T>C (n.411T>C)
c.907T>C (p.Phe303Leu)
c.709T>C (p.Phe237Leu)
3g.120633203A>TCA354072772HGDc.1132T>A (p.Phe378Ile)
n.472T>A
c.411T>A (n.411T>A)
c.907T>A (p.Phe303Ile)
c.709T>A (p.Phe237Ile)
3g.120633204G>ACA435225844HGDc.1131C>T (p.Cys377=)
n.471C>T
c.410C>T (n.410C>T)
c.906C>T (p.Cys302=)
c.708C>T (p.Cys236=)
3g.120633204G>CCA354072773HGDc.1131C>G (p.Cys377Trp)
n.471C>G
c.410C>G (n.410C>G)
c.906C>G (p.Cys302Trp)
c.708C>G (p.Cys236Trp)
 gnomAD v4
3g.120633204G>TCA354072774HGDc.1131C>A (p.Cys377Ter)
n.471C>A
c.410C>A (n.410C>A)
c.906C>A (p.Cys302Ter)
c.708C>A (p.Cys236Ter)
 ClinVar
3g.120633205C>ACA354072775HGDc.1130G>T (p.Cys377Phe)
n.470G>T
c.409G>T (n.409G>T)
c.905G>T (p.Cys302Phe)
c.707G>T (p.Cys236Phe)
3g.120633205C>GCA354072776HGDc.1130G>C (p.Cys377Ser)
n.470G>C
c.409G>C (n.409G>C)
c.905G>C (p.Cys302Ser)
c.707G>C (p.Cys236Ser)
3g.120633205C>TCA354072777HGDc.1130G>A (p.Cys377Tyr)
n.470G>A
c.409G>A (n.409G>A)
c.905G>A (p.Cys302Tyr)
c.707G>A (p.Cys236Tyr)
3g.120633206A=CA1397090717HGDc.1129T= (p.Cys377=)
n.469T=
c.408T= (n.408T=)
c.904T= (p.Cys302=)
c.706T= (p.Cys236=)
3g.120633206A>CCA354072778HGDc.1129T>G (p.Cys377Gly)
n.469T>G
c.408T>G (n.408T>G)
c.904T>G (p.Cys302Gly)
c.706T>G (p.Cys236Gly)
3g.120633206A>GCA354072779HGDc.1129T>C (p.Cys377Arg)
n.469T>C
c.408T>C (n.408T>C)
c.904T>C (p.Cys302Arg)
c.706T>C (p.Cys236Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.120633206A>TCA354072780HGDc.1129T>A (p.Cys377Ser)
n.469T>A
c.408T>A (n.408T>A)
c.904T>A (p.Cys302Ser)
c.706T>A (p.Cys236Ser)
3g.120633207G>ACA435225852HGDc.1128C>T (p.Asp376=)
n.468C>T
c.407C>T (n.407C>T)
c.903C>T (p.Asp301=)
c.705C>T (p.Asp235=)
3g.120633207G>CCA2559966HGDc.1128C>G (p.Asp376Glu)
n.468C>G
c.407C>G (n.407C>G)
c.903C>G (p.Asp301Glu)
c.705C>G (p.Asp235Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633207G=CA1397090718HGDc.1128C= (p.Asp376=)
n.468C=
c.407C= (n.407C=)
c.903C= (p.Asp301=)
c.705C= (p.Asp235=)
3g.120633207G>TCA354072781HGDc.1128C>A (p.Asp376Glu)
n.468C>A
c.407C>A (n.407C>A)
c.903C>A (p.Asp301Glu)
c.705C>A (p.Asp235Glu)
3g.120633208T>ACA354072782HGDc.1127A>T (p.Asp376Val)
n.467A>T
c.406A>T (n.406A>T)
c.902A>T (p.Asp301Val)
c.704A>T (p.Asp235Val)
3g.120633208T>CCA354072783HGDc.1127A>G (p.Asp376Gly)
n.467A>G
c.406A>G (n.406A>G)
c.902A>G (p.Asp301Gly)
c.704A>G (p.Asp235Gly)
3g.120633208T>GCA354072784HGDc.1127A>C (p.Asp376Ala)
n.467A>C
c.406A>C (n.406A>C)
c.902A>C (p.Asp301Ala)
c.704A>C (p.Asp235Ala)
3g.120633209C>ACA354072785HGDc.1126G>T (p.Asp376Tyr)
n.466G>T
c.405G>T (n.405G>T)
c.901G>T (p.Asp301Tyr)
c.703G>T (p.Asp235Tyr)
3g.120633209C>GCA354072786HGDc.1126G>C (p.Asp376His)
n.466G>C
c.405G>C (n.405G>C)
c.901G>C (p.Asp301His)
c.703G>C (p.Asp235His)
3g.120633209C>TCA354072787HGDc.1126G>A (p.Asp376Asn)
n.466G>A
c.405G>A (n.405G>A)
c.901G>A (p.Asp301Asn)
c.703G>A (p.Asp235Asn)
3g.120633210A=CA1397090719HGDc.1125T= (p.Ala375=)
n.465T=
c.404T= (n.404T=)
c.900T= (p.Ala300=)
c.702T= (p.Ala234=)
3g.120633210A>CCA435225862HGDc.1125T>G (p.Ala375=)
n.465T>G
c.404T>G (n.404T>G)
c.900T>G (p.Ala300=)
c.702T>G (p.Ala234=)
3g.120633210A>GCA435225864HGDc.1125T>C (p.Ala375=)
n.465T>C
c.404T>C (n.404T>C)
c.900T>C (p.Ala300=)
c.702T>C (p.Ala234=)
 dbSNP gnomAD v4
3g.120633210A>TCA435225866HGDc.1125T>A (p.Ala375=)
n.465T>A
c.404T>A (n.404T>A)
c.900T>A (p.Ala300=)
c.702T>A (p.Ala234=)
 gnomAD v4
3g.120633211G>ACA354072788HGDc.1124C>T (p.Ala375Val)
n.464C>T
c.403C>T (n.403C>T)
c.899C>T (p.Ala300Val)
c.701C>T (p.Ala234Val)
3g.120633211G>CCA354072789HGDc.1124C>G (p.Ala375Gly)
n.464C>G
c.403C>G (n.403C>G)
c.899C>G (p.Ala300Gly)
c.701C>G (p.Ala234Gly)
3g.120633211G>TCA354072790HGDc.1124C>A (p.Ala375Asp)
n.464C>A
c.403C>A (n.403C>A)
c.899C>A (p.Ala300Asp)
c.701C>A (p.Ala234Asp)
3g.120633212C>ACA354072791HGDc.1123G>T (p.Ala375Ser)
n.463G>T
c.402G>T (n.402G>T)
c.898G>T (p.Ala300Ser)
c.700G>T (p.Ala234Ser)
3g.120633212C>GCA354072792HGDc.1123G>C (p.Ala375Pro)
n.463G>C
c.402G>C (n.402G>C)
c.898G>C (p.Ala300Pro)
c.700G>C (p.Ala234Pro)
3g.120633212C>TCA354072793HGDc.1123G>A (p.Ala375Thr)
n.463G>A
c.402G>A (n.402G>A)
c.898G>A (p.Ala300Thr)
c.700G>A (p.Ala234Thr)
3g.120633213A>CCA354072795HGDc.1122T>G (p.Asp374Glu)
n.462T>G
c.401T>G (n.401T>G)
c.897T>G (p.Asp299Glu)
c.699T>G (p.Asp233Glu)
3g.120633213A>GCA435225873HGDc.1122T>C (p.Asp374=)
n.462T>C
c.401T>C (n.401T>C)
c.897T>C (p.Asp299=)
c.699T>C (p.Asp233=)
3g.120633213A>TCA354072794HGDc.1122T>A (p.Asp374Glu)
n.462T>A
c.401T>A (n.401T>A)
c.897T>A (p.Asp299Glu)
c.699T>A (p.Asp233Glu)
3g.120633214T>ACA354072796HGDc.1121A>T (p.Asp374Val)
n.461A>T
c.400A>T (n.400A>T)
c.896A>T (p.Asp299Val)
c.698A>T (p.Asp233Val)
3g.120633214T>CCA354072798HGDc.1121A>G (p.Asp374Gly)
n.461A>G
c.400A>G (n.400A>G)
c.896A>G (p.Asp299Gly)
c.698A>G (p.Asp233Gly)
3g.120633214T>GCA354072797HGDc.1121A>C (p.Asp374Ala)
n.461A>C
c.400A>C (n.400A>C)
c.896A>C (p.Asp299Ala)
c.698A>C (p.Asp233Ala)
3g.120633215C>ACA354072799HGDc.1120G>T (p.Asp374Tyr)
n.460G>T
c.399G>T (n.399G>T)
c.895G>T (p.Asp299Tyr)
c.697G>T (p.Asp233Tyr)
3g.120633215C=CA1397090720HGDc.1120G= (p.Asp374=)
n.460G=
c.399G= (n.399G=)
c.895G= (p.Asp299=)
c.697G= (p.Asp233=)
3g.120633215C>GCA81777915HGDc.1120G>C (p.Asp374His)
n.460G>C
c.399G>C (n.399G>C)
c.895G>C (p.Asp299His)
c.697G>C (p.Asp233His)
 ClinVar dbSNP gnomAD v4
3g.120633215C>TCA354072800HGDc.1120G>A (p.Asp374Asn)
n.460G>A
c.399G>A (n.399G>A)
c.895G>A (p.Asp299Asn)
c.697G>A (p.Asp233Asn)
3g.120633216A>CCA435225884HGDc.1119T>G (p.Pro373=)
n.459T>G
c.398T>G (n.398T>G)
c.894T>G (p.Pro298=)
c.696T>G (p.Pro232=)
3g.120633216A>GCA435225886HGDc.1119T>C (p.Pro373=)
n.459T>C
c.398T>C (n.398T>C)
c.894T>C (p.Pro298=)
c.696T>C (p.Pro232=)
3g.120633216A>TCA435225888HGDc.1119T>A (p.Pro373=)
n.459T>A
c.398T>A (n.398T>A)
c.894T>A (p.Pro298=)
c.696T>A (p.Pro232=)
3g.120633217G>ACA81777922HGDc.1118C>T (p.Pro373Leu)
n.458C>T
c.397C>T (n.397C>T)
c.893C>T (p.Pro298Leu)
c.695C>T (p.Pro232Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633217G>CCA354072801HGDc.1118C>G (p.Pro373Arg)
n.458C>G
c.397C>G (n.397C>G)
c.893C>G (p.Pro298Arg)
c.695C>G (p.Pro232Arg)
3g.120633217G=CA1397090721HGDc.1118C= (p.Pro373=)
n.458C=
c.397C= (n.397C=)
c.893C= (p.Pro298=)
c.695C= (p.Pro232=)
3g.120633217G>TCA354072802HGDc.1118C>A (p.Pro373His)
n.458C>A
c.397C>A (n.397C>A)
c.893C>A (p.Pro298His)
c.695C>A (p.Pro232His)
3g.120633218G>ACA354072803HGDc.1117C>T (p.Pro373Ser)
n.457C>T
c.396C>T (n.396C>T)
c.892C>T (p.Pro298Ser)
c.694C>T (p.Pro232Ser)
 gnomAD v4
3g.120633218G>CCA354072804HGDc.1117C>G (p.Pro373Ala)
n.457C>G
c.396C>G (n.396C>G)
c.892C>G (p.Pro298Ala)
c.694C>G (p.Pro232Ala)
3g.120633218G>TCA354072805HGDc.1117C>A (p.Pro373Thr)
n.457C>A
c.396C>A (n.396C>A)
c.892C>A (p.Pro298Thr)
c.694C>A (p.Pro232Thr)
3g.120633218_120633220delCA2582342872HGDc.1115_1117del (p.Gly372_Pro373delinsAla)
n.455_457del
c.394_396del (n.394_396del)
c.890_892del (p.Gly297_Pro298delinsAla)
c.692_694del (p.Gly231_Pro232delinsAla)
 ClinVar
3g.120633219T>ACA435225897HGDc.1116A>T (p.Gly372=)
n.456A>T
c.395A>T (n.395A>T)
c.891A>T (p.Gly297=)
c.693A>T (p.Gly231=)
3g.120633219T>CCA435225901HGDc.1116A>G (p.Gly372=)
n.456A>G
c.395A>G (n.395A>G)
c.891A>G (p.Gly297=)
c.693A>G (p.Gly231=)
 gnomAD v4
3g.120633219T>GCA435225899HGDc.1116A>C (p.Gly372=)
n.456A>C
c.395A>C (n.395A>C)
c.891A>C (p.Gly297=)
c.693A>C (p.Gly231=)
3g.120633220C>ACA354072808HGDc.1115G>T (p.Gly372Val)
n.455G>T
c.394G>T (n.394G>T)
c.890G>T (p.Gly297Val)
c.692G>T (p.Gly231Val)
 ClinVar dbSNP gnomAD v4
3g.120633220C=CA1397090722HGDc.1115G= (p.Gly372=)
n.455G=
c.394G= (n.394G=)
c.890G= (p.Gly297=)
c.692G= (p.Gly231=)
3g.120633220C>GCA354072806HGDc.1115G>C (p.Gly372Ala)
n.455G>C
c.394G>C (n.394G>C)
c.890G>C (p.Gly297Ala)
c.692G>C (p.Gly231Ala)
3g.120633220C>TCA354072807HGDc.1115G>A (p.Gly372Glu)
n.455G>A
c.394G>A (n.394G>A)
c.890G>A (p.Gly297Glu)
c.692G>A (p.Gly231Glu)
 gnomAD v4
3g.120633221C>ACA354072809HGDc.1114G>T (p.Gly372Ter)
n.454G>T
c.393G>T (n.393G>T)
c.889G>T (p.Gly297Ter)
c.691G>T (p.Gly231Ter)
3g.120633221C=CA1397090723HGDc.1114G= (p.Gly372=)
n.454G=
c.393G= (n.393G=)
c.889G= (p.Gly297=)
c.691G= (p.Gly231=)
3g.120633221C>GCA354072810HGDc.1114G>C (p.Gly372Arg)
n.454G>C
c.393G>C (n.393G>C)
c.889G>C (p.Gly297Arg)
c.691G>C (p.Gly231Arg)
3g.120633221C>TCA354072811HGDc.1114G>A (p.Gly372Arg)
n.454G>A
c.393G>A (n.393G>A)
c.889G>A (p.Gly297Arg)
c.691G>A (p.Gly231Arg)
 ClinVar dbSNP
3g.120633222A>CCA354072812HGDc.1113T>G (p.His371Gln)
n.453T>G
c.392T>G (n.392T>G)
c.888T>G (p.His296Gln)
c.690T>G (p.His230Gln)
3g.120633222A>GCA435225910HGDc.1113T>C (p.His371=)
n.453T>C
c.392T>C (n.392T>C)
c.888T>C (p.His296=)
c.690T>C (p.His230=)
3g.120633222A>TCA354072813HGDc.1113T>A (p.His371Gln)
n.453T>A
c.392T>A (n.392T>A)
c.888T>A (p.His296Gln)
c.690T>A (p.His230Gln)
3g.120633223T>ACA354072814HGDc.1112A>T (p.His371Leu)
n.452A>T
c.391A>T (n.391A>T)
c.887A>T (p.His296Leu)
c.689A>T (p.His230Leu)
3g.120633223T>CCA277917HGDc.1112A>G (p.His371Arg)
n.452A>G
c.391A>G (n.391A>G)
c.887A>G (p.His296Arg)
c.689A>G (p.His230Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633223T>GCA354072815HGDc.1112A>C (p.His371Pro)
n.452A>C
c.391A>C (n.391A>C)
c.887A>C (p.His296Pro)
c.689A>C (p.His230Pro)
3g.120633223T=CA1397090724HGDc.1112A= (p.His371=)
n.452A=
c.391A= (n.391A=)
c.887A= (p.His296=)
c.689A= (p.His230=)
3g.120633223dupCA2580068663HGDc.1112dup (p.His371GlnfsTer4)
n.452dup
c.391dup (n.391dup)
c.887dup (p.His296GlnfsTer4)
c.689dup (p.His230GlnfsTer4)
 ClinVar gnomAD v4
3g.120633224G>ACA354072816HGDc.1111C>T (p.His371Tyr)
n.451C>T
c.390C>T (n.390C>T)
c.886C>T (p.His296Tyr)
c.688C>T (p.His230Tyr)
3g.120633224G>CCA354072817HGDc.1111C>G (p.His371Asp)
n.451C>G
c.390C>G (n.390C>G)
c.886C>G (p.His296Asp)
c.688C>G (p.His230Asp)
3g.120633224G=CA1397090725HGDc.1111C= (p.His371=)
n.451C=
c.390C= (n.390C=)
c.886C= (p.His296=)
c.688C= (p.His230=)
3g.120633224G>TCA81777944HGDc.1111C>A (p.His371Asn)
n.451C>A
c.390C>A (n.390C>A)
c.886C>A (p.His296Asn)
c.688C>A (p.His230Asn)
 dbSNP gnomAD v4
3g.120633229dupCA344902HGDc.1111dup (p.His371ProfsTer4)
n.451dup
c.390dup (n.390dup)
c.886dup (p.His296ProfsTer4)
c.688dup (p.His230ProfsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.120633229delCA2573136433HGDc.1111del (p.His371MetfsTer?)
n.451del
c.390del (n.390del)
c.886del (p.His296MetfsTer?)
c.688del (p.His230MetfsTer?)
 ClinVar dbSNP gnomAD v4
3g.120633225G>ACA435225923HGDc.1110C>T (p.Pro370=)
n.450C>T
c.389C>T (n.389C>T)
c.885C>T (p.Pro295=)
c.687C>T (p.Pro229=)
 ClinVar gnomAD v4
3g.120633225G>CCA435225925HGDc.1110C>G (p.Pro370=)
n.450C>G
c.389C>G (n.389C>G)
c.885C>G (p.Pro295=)
c.687C>G (p.Pro229=)
3g.120633225G=CA1397090726HGDc.1110C= (p.Pro370=)
n.450C=
c.389C= (n.389C=)
c.885C= (p.Pro295=)
c.687C= (p.Pro229=)
3g.120633225G>TCA2559967HGDc.1110C>A (p.Pro370=)
n.450C>A
c.389C>A (n.389C>A)
c.885C>A (p.Pro295=)
c.687C>A (p.Pro229=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.120633226G>ACA354072818HGDc.1109C>T (p.Pro370Leu)
n.449C>T
c.388C>T (n.388C>T)
c.884C>T (p.Pro295Leu)
c.686C>T (p.Pro229Leu)
 COSMIC
3g.120633226G>CCA354072819HGDc.1109C>G (p.Pro370Arg)
n.449C>G
c.388C>G (n.388C>G)
c.884C>G (p.Pro295Arg)
c.686C>G (p.Pro229Arg)
3g.120633226G>TCA354072820HGDc.1109C>A (p.Pro370His)
n.449C>A
c.388C>A (n.388C>A)
c.884C>A (p.Pro295His)
c.686C>A (p.Pro229His)
3g.120633227G>ACA354072821HGDc.1108C>T (p.Pro370Ser)
n.448C>T
c.387C>T (n.387C>T)
c.883C>T (p.Pro295Ser)
c.685C>T (p.Pro229Ser)
 gnomAD v4
3g.120633227G>CCA354072822HGDc.1108C>G (p.Pro370Ala)
n.448C>G
c.387C>G (n.387C>G)
c.883C>G (p.Pro295Ala)
c.685C>G (p.Pro229Ala)
3g.120633227G>TCA354072823HGDc.1108C>A (p.Pro370Thr)
n.448C>A
c.387C>A (n.387C>A)
c.883C>A (p.Pro295Thr)
c.685C>A (p.Pro229Thr)
3g.120633228G>ACA435225939HGDc.1107C>T (p.Thr369=)
n.447C>T
c.386C>T (n.386C>T)
c.882C>T (p.Thr294=)
c.684C>T (p.Thr228=)
3g.120633228G>CCA435225936HGDc.1107C>G (p.Thr369=)
n.447C>G
c.386C>G (n.386C>G)
c.882C>G (p.Thr294=)
c.684C>G (p.Thr228=)
3g.120633228G=CA1397090727HGDc.1107C= (p.Thr369=)
n.447C=
c.386C= (n.386C=)
c.882C= (p.Thr294=)
c.684C= (p.Thr228=)
3g.120633228G>TCA435225935HGDc.1107C>A (p.Thr369=)
n.447C>A
c.386C>A (n.386C>A)
c.882C>A (p.Thr294=)
c.684C>A (p.Thr228=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.120633229G>ACA354072824HGDc.1106C>T (p.Thr369Ile)
n.446C>T
c.385C>T (n.385C>T)
c.881C>T (p.Thr294Ile)
c.683C>T (p.Thr228Ile)
3g.120633229G>CCA354072825HGDc.1106C>G (p.Thr369Ser)
n.446C>G
c.385C>G (n.385C>G)
c.881C>G (p.Thr294Ser)
c.683C>G (p.Thr228Ser)
 gnomAD v3 gnomAD v4
3g.120633229G=CA1397090728HGDc.1106C= (p.Thr369=)
n.446C=
c.385C= (n.385C=)
c.881C= (p.Thr294=)
c.683C= (p.Thr228=)
3g.120633229G>TCA2559968HGDc.1106C>A (p.Thr369Asn)
n.446C>A
c.385C>A (n.385C>A)
c.881C>A (p.Thr294Asn)
c.683C>A (p.Thr228Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633230T>ACA354072826HGDc.1105A>T (p.Thr369Ser)
n.445A>T
c.384A>T (n.384A>T)
c.880A>T (p.Thr294Ser)
c.682A>T (p.Thr228Ser)
3g.120633230T>CCA354072827HGDc.1105A>G (p.Thr369Ala)
n.445A>G
c.384A>G (n.384A>G)
c.880A>G (p.Thr294Ala)
c.682A>G (p.Thr228Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.120633230T>GCA354072828HGDc.1105A>C (p.Thr369Pro)
n.445A>C
c.384A>C (n.384A>C)
c.880A>C (p.Thr294Pro)
c.682A>C (p.Thr228Pro)
3g.120633230T=CA1397090729HGDc.1105A= (p.Thr369=)
n.445A=
c.384A= (n.384A=)
c.880A= (p.Thr294=)
c.682A= (p.Thr228=)
3g.120633231C>ACA354072829HGDc.1104G>T (p.Met368Ile)
n.444G>T
c.383G>T (n.383G>T)
c.879G>T (p.Met293Ile)
c.681G>T (p.Met227Ile)
 dbSNP
3g.120633231C=CA1397090730HGDc.1104G= (p.Met368=)
n.444G=
c.383G= (n.383G=)
c.879G= (p.Met293=)
c.681G= (p.Met227=)
3g.120633231C>GCA354072830HGDc.1104G>C (p.Met368Ile)
n.444G>C
c.383G>C (n.383G>C)
c.879G>C (p.Met293Ile)
c.681G>C (p.Met227Ile)
3g.120633231C>TCA354072831HGDc.1104G>A (p.Met368Ile)
n.444G>A
c.383G>A (n.383G>A)
c.879G>A (p.Met293Ile)
c.681G>A (p.Met227Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.120633232A>CCA354072832HGDc.1103T>G (p.Met368Arg)
n.443T>G
c.382T>G (n.382T>G)
c.878T>G (p.Met293Arg)
c.680T>G (p.Met227Arg)
3g.120633232A>GCA354072833HGDc.1103T>C (p.Met368Thr)
n.443T>C
c.382T>C (n.382T>C)
c.878T>C (p.Met293Thr)
c.680T>C (p.Met227Thr)
3g.120633232A>TCA354072834HGDc.1103T>A (p.Met368Lys)
n.443T>A
c.382T>A (n.382T>A)
c.878T>A (p.Met293Lys)
c.680T>A (p.Met227Lys)
3g.120633233T>ACA354072835HGDc.1102A>T (p.Met368Leu)
n.442A>T
c.381A>T (n.381A>T)
c.877A>T (p.Met293Leu)
c.679A>T (p.Met227Leu)
3g.120633233T>CCA340048HGDc.1102A>G (p.Met368Val)
n.442A>G
c.381A>G (n.381A>G)
c.877A>G (p.Met293Val)
c.679A>G (p.Met227Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633233T>GCA354072836HGDc.1102A>C (p.Met368Leu)
n.442A>C
c.381A>C (n.381A>C)
c.877A>C (p.Met293Leu)
c.679A>C (p.Met227Leu)
3g.120633233T=CA1397090731HGDc.1102A= (p.Met368=)
n.442A=
c.381A= (n.381A=)
c.877A= (p.Met293=)
c.679A= (p.Met227=)
3g.120633234T>ACA435225960HGDc.1101A>T (p.Thr367=)
n.441A>T
c.380A>T (n.380A>T)
c.876A>T (p.Thr292=)
c.678A>T (p.Thr226=)
3g.120633234T>CCA435225961HGDc.1101A>G (p.Thr367=)
n.441A>G
c.380A>G (n.380A>G)
c.876A>G (p.Thr292=)
c.678A>G (p.Thr226=)
 gnomAD v4
3g.120633234T>GCA435225962HGDc.1101A>C (p.Thr367=)
n.441A>C
c.380A>C (n.380A>C)
c.876A>C (p.Thr292=)
c.678A>C (p.Thr226=)
3g.120633235G>ACA354072839HGDc.1100C>T (p.Thr367Ile)
n.440C>T
c.379C>T (n.379C>T)
c.875C>T (p.Thr292Ile)
c.677C>T (p.Thr226Ile)
 gnomAD v4
3g.120633235G>CCA354072837HGDc.1100C>G (p.Thr367Arg)
n.440C>G
c.379C>G (n.379C>G)
c.875C>G (p.Thr292Arg)
c.677C>G (p.Thr226Arg)
3g.120633235G>TCA354072838HGDc.1100C>A (p.Thr367Lys)
n.440C>A
c.379C>A (n.379C>A)
c.875C>A (p.Thr292Lys)
c.677C>A (p.Thr226Lys)
3g.120633235_120633240dupCA2582342873HGDc.1095_1100dup (p.Thr367_Met368insSerThr)
n.435_440dup
c.374_379dup (n.374_379dup)
c.870_875dup (p.Thr292_Met293insSerThr)
c.672_677dup (p.Thr226_Met227insSerThr)
 ClinVar
3g.120633236T>ACA354072840HGDc.1099A>T (p.Thr367Ser)
n.439A>T
c.378A>T (n.378A>T)
c.874A>T (p.Thr292Ser)
c.676A>T (p.Thr226Ser)
3g.120633236T>CCA354072841HGDc.1099A>G (p.Thr367Ala)
n.439A>G
c.378A>G (n.378A>G)
c.874A>G (p.Thr292Ala)
c.676A>G (p.Thr226Ala)
3g.120633236T>GCA354072842HGDc.1099A>C (p.Thr367Pro)
n.439A>C
c.378A>C (n.378A>C)
c.874A>C (p.Thr292Pro)
c.676A>C (p.Thr226Pro)
3g.120633237G>ACA435225967HGDc.1098C>T (p.Ser366=)
n.438C>T
c.377C>T (n.377C>T)
c.873C>T (p.Ser291=)
c.675C>T (p.Ser225=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.120633237G>CCA354072843HGDc.1098C>G (p.Ser366Arg)
n.438C>G
c.377C>G (n.377C>G)
c.873C>G (p.Ser291Arg)
c.675C>G (p.Ser225Arg)
3g.120633237G=CA1397090732HGDc.1098C= (p.Ser366=)
n.438C=
c.377C= (n.377C=)
c.873C= (p.Ser291=)
c.675C= (p.Ser225=)
3g.120633237G>TCA354072844HGDc.1098C>A (p.Ser366Arg)
n.438C>A
c.377C>A (n.377C>A)
c.873C>A (p.Ser291Arg)
c.675C>A (p.Ser225Arg)
3g.120633238C>ACA354072845HGDc.1097G>T (p.Ser366Ile)
n.437G>T
c.376G>T (n.376G>T)
c.872G>T (p.Ser291Ile)
c.674G>T (p.Ser225Ile)
 gnomAD v4 COSMIC
3g.120633238C=CA1397090733HGDc.1097G= (p.Ser366=)
n.437G=
c.376G= (n.376G=)
c.872G= (p.Ser291=)
c.674G= (p.Ser225=)
3g.120633238C>GCA354072846HGDc.1097G>C (p.Ser366Thr)
n.437G>C
c.376G>C (n.376G>C)
c.872G>C (p.Ser291Thr)
c.674G>C (p.Ser225Thr)
3g.120633238C>TCA2559969HGDc.1097G>A (p.Ser366Asn)
n.437G>A
c.376G>A (n.376G>A)
c.872G>A (p.Ser291Asn)
c.674G>A (p.Ser225Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.120633238_120633240delinsCTGCA1397090734HGDc.1095_1097delinsCAG (p.His365=)
n.435_437delinsCAG
c.374_376delinsCAG (n.374_376delinsCAG)
c.870_872delinsCAG (p.His290=)
c.672_674delinsCAG (p.His224=)
3g.120633239T>ACA354072847HGDc.1096A>T (p.Ser366Cys)
n.436A>T
c.375A>T (n.375A>T)
c.871A>T (p.Ser291Cys)
c.673A>T (p.Ser225Cys)
3g.120633239T>CCA354072848HGDc.1096A>G (p.Ser366Gly)
n.436A>G
c.375A>G (n.375A>G)
c.871A>G (p.Ser291Gly)
c.673A>G (p.Ser225Gly)
 dbSNP gnomAD v3 gnomAD v4
3g.120633239T>GCA354072849HGDc.1096A>C (p.Ser366Arg)
n.436A>C
c.375A>C (n.375A>C)
c.871A>C (p.Ser291Arg)
c.673A>C (p.Ser225Arg)
3g.120633239T=CA1397090736HGDc.1096A= (p.Ser366=)
n.436A=
c.375A= (n.375A=)
c.871A= (p.Ser291=)
c.673A= (p.Ser225=)
3g.120633242_120633243delCA1397090735HGDc.1095_1096del (p.His365GlnfsTer9)
n.435_436del
c.374_375del (n.374_375del)
c.870_871del (p.His290GlnfsTer9)
c.672_673del (p.His224GlnfsTer9)
 dbSNP
3g.120633240G>ACA435225980HGDc.1095C>T (p.His365=)
n.435C>T
c.374C>T (n.374C>T)
c.870C>T (p.His290=)
c.672C>T (p.His224=)
 dbSNP gnomAD v4
3g.120633240G>CCA354072851HGDc.1095C>G (p.His365Gln)
n.435C>G
c.374C>G (n.374C>G)
c.870C>G (p.His290Gln)
c.672C>G (p.His224Gln)
3g.120633240G=CA1397090737HGDc.1095C= (p.His365=)
n.435C=
c.374C= (n.374C=)
c.870C= (p.His290=)
c.672C= (p.His224=)
3g.120633240G>TCA354072850HGDc.1095C>A (p.His365Gln)
n.435C>A
c.374C>A (n.374C>A)
c.870C>A (p.His290Gln)
c.672C>A (p.His224Gln)
3g.120633241T>ACA354072852HGDc.1094A>T (p.His365Leu)
n.434A>T
c.373A>T (n.373A>T)
c.869A>T (p.His290Leu)
c.671A>T (p.His224Leu)
3g.120633241T>CCA354072854HGDc.1094A>G (p.His365Arg)
n.434A>G
c.373A>G (n.373A>G)
c.869A>G (p.His290Arg)
c.671A>G (p.His224Arg)
3g.120633241T>GCA354072853HGDc.1094A>C (p.His365Pro)
n.434A>C
c.373A>C (n.373A>C)
c.869A>C (p.His290Pro)
c.671A>C (p.His224Pro)
3g.120633242G>ACA354072855HGDc.1093C>T (p.His365Tyr)
n.433C>T
c.372C>T (n.372C>T)
c.868C>T (p.His290Tyr)
c.670C>T (p.His224Tyr)
 gnomAD v4
3g.120633242G>CCA354072856HGDc.1093C>G (p.His365Asp)
n.433C>G
c.372C>G (n.372C>G)
c.868C>G (p.His290Asp)
c.670C>G (p.His224Asp)
3g.120633242G>TCA354072857HGDc.1093C>A (p.His365Asn)
n.433C>A
c.372C>A (n.372C>A)
c.868C>A (p.His290Asn)
c.670C>A (p.His224Asn)
3g.120633243T>ACA435225992HGDc.1092A>T (p.Leu364=)
n.432A>T
c.371A>T (n.371A>T)
c.867A>T (p.Leu289=)
c.669A>T (p.Leu223=)
3g.120633243T>CCA435225993HGDc.1092A>G (p.Leu364=)
n.432A>G
c.371A>G (n.371A>G)
c.867A>G (p.Leu289=)
c.669A>G (p.Leu223=)
 COSMIC
3g.120633243T>GCA435225995HGDc.1092A>C (p.Leu364=)
n.432A>C
c.371A>C (n.371A>C)
c.867A>C (p.Leu289=)
c.669A>C (p.Leu223=)

Number of alleles fetched