Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.173908360_173915405delCA2573051419SERPINC1c.42-486_1154-846del
c.42-486_560-867del
c.-272-219_1010-846del
c.42-486_1277-846del
c.123-486_1235-846del
c.42-486_1133-846del
c.42-486_1097-846del
c.42-486_938-846del
ClinVar
1g.173909622_173910322delCA2573051420SERPINC1c.763-379_1084del
c.559+1543_560-2128del (n.559+1543_560-2128del)
c.619-379_940del
c.885+310_1207del
c.844-379_1165del
c.742-379_1063del
c.762+433_1027del
c.547-379_868del
ClinVar dbSNP
1g.173909722T>ACA343773991SERPINC1c.983A>T (p.Glu328Val)
c.559+2142A>T (n.559+2142A>T)
c.839A>T (p.Glu280Val)
c.1106A>T (p.Glu369Val)
c.1064A>T (p.Glu355Val)
c.962A>T (p.Glu321Val)
c.926A>T (p.Glu309Val)
c.767A>T (p.Glu256Val)
1g.173909722T>CCA32780315SERPINC1c.983A>G (p.Glu328Gly)
c.559+2142A>G (n.559+2142A>G)
c.839A>G (p.Glu280Gly)
c.1106A>G (p.Glu369Gly)
c.1064A>G (p.Glu355Gly)
c.962A>G (p.Glu321Gly)
c.926A>G (p.Glu309Gly)
c.767A>G (p.Glu256Gly)
dbSNP gnomAD v3 gnomAD v4
1g.173909722T>GCA343773994SERPINC1c.983A>C (p.Glu328Ala)
c.559+2142A>C (n.559+2142A>C)
c.839A>C (p.Glu280Ala)
c.1106A>C (p.Glu369Ala)
c.1064A>C (p.Glu355Ala)
c.962A>C (p.Glu321Ala)
c.926A>C (p.Glu309Ala)
c.767A>C (p.Glu256Ala)
1g.173909722T=CA1207936962SERPINC1c.983A= (p.Glu328=)
c.559+2142A= (n.559+2142A=)
c.839A= (p.Glu280=)
c.1106A= (p.Glu369=)
c.1064A= (p.Glu355=)
c.962A= (p.Glu321=)
c.926A= (p.Glu309=)
c.767A= (p.Glu256=)
1g.173909723C>ACA343773996SERPINC1c.982G>T (p.Glu328Ter)
c.559+2141G>T (n.559+2141G>T)
c.838G>T (p.Glu280Ter)
c.1105G>T (p.Glu369Ter)
c.1063G>T (p.Glu355Ter)
c.961G>T (p.Glu321Ter)
c.925G>T (p.Glu309Ter)
c.766G>T (p.Glu256Ter)
1g.173909723C=CA1207936963SERPINC1c.982G= (p.Glu328=)
c.559+2141G= (n.559+2141G=)
c.838G= (p.Glu280=)
c.1105G= (p.Glu369=)
c.1063G= (p.Glu355=)
c.961G= (p.Glu321=)
c.925G= (p.Glu309=)
c.766G= (p.Glu256=)
1g.173909723C>GCA343773997SERPINC1c.982G>C (p.Glu328Gln)
c.559+2141G>C (n.559+2141G>C)
c.838G>C (p.Glu280Gln)
c.1105G>C (p.Glu369Gln)
c.1063G>C (p.Glu355Gln)
c.961G>C (p.Glu321Gln)
c.925G>C (p.Glu309Gln)
c.766G>C (p.Glu256Gln)
dbSNP
1g.173909723C>TCA343773999SERPINC1c.982G>A (p.Glu328Lys)
c.559+2141G>A (n.559+2141G>A)
c.838G>A (p.Glu280Lys)
c.1105G>A (p.Glu369Lys)
c.1063G>A (p.Glu355Lys)
c.961G>A (p.Glu321Lys)
c.925G>A (p.Glu309Lys)
c.766G>A (p.Glu256Lys)
1g.173909724delCA2582342993SERPINC1c.981del (p.Glu328ArgfsTer19)
c.559+2140del (n.559+2140del)
c.837del (p.Glu280ArgfsTer19)
c.1104del (p.Glu369ArgfsTer19)
c.1062del (p.Glu355ArgfsTer19)
c.960del (p.Glu321ArgfsTer19)
c.924del (p.Glu309ArgfsTer19)
c.765del (p.Glu256ArgfsTer19)
1g.173909724T>ACA421942963SERPINC1c.981A>T (p.Val327=)
c.559+2140A>T (n.559+2140A>T)
c.837A>T (p.Val279=)
c.1104A>T (p.Val368=)
c.1062A>T (p.Val354=)
c.960A>T (p.Val320=)
c.924A>T (p.Val308=)
c.765A>T (p.Val255=)
dbSNP
1g.173909724T>CCA1251300SERPINC1c.981A>G (p.Val327=)
c.559+2140A>G (n.559+2140A>G)
c.837A>G (p.Val279=)
c.1104A>G (p.Val368=)
c.1062A>G (p.Val354=)
c.960A>G (p.Val320=)
c.924A>G (p.Val308=)
c.765A>G (p.Val255=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909724T>GCA421942965SERPINC1c.981A>C (p.Val327=)
c.559+2140A>C (n.559+2140A>C)
c.837A>C (p.Val279=)
c.1104A>C (p.Val368=)
c.1062A>C (p.Val354=)
c.960A>C (p.Val320=)
c.924A>C (p.Val308=)
c.765A>C (p.Val255=)
1g.173909724T=CA1139773037SERPINC1c.981A= (p.Val327=)
c.559+2140A= (n.559+2140A=)
c.837A= (p.Val279=)
c.1104A= (p.Val368=)
c.1062A= (p.Val354=)
c.960A= (p.Val320=)
c.924A= (p.Val308=)
c.765A= (p.Val255=)
1g.173909725A=CA1207936964SERPINC1c.980T= (p.Val327=)
c.559+2139T= (n.559+2139T=)
c.836T= (p.Val279=)
c.1103T= (p.Val368=)
c.1061T= (p.Val354=)
c.959T= (p.Val320=)
c.923T= (p.Val308=)
c.764T= (p.Val255=)
1g.173909725A>CCA343774004SERPINC1c.980T>G (p.Val327Gly)
c.559+2139T>G (n.559+2139T>G)
c.836T>G (p.Val279Gly)
c.1103T>G (p.Val368Gly)
c.1061T>G (p.Val354Gly)
c.959T>G (p.Val320Gly)
c.923T>G (p.Val308Gly)
c.764T>G (p.Val255Gly)
1g.173909725A>GCA1251301SERPINC1c.980T>C (p.Val327Ala)
c.559+2139T>C (n.559+2139T>C)
c.836T>C (p.Val279Ala)
c.1103T>C (p.Val368Ala)
c.1061T>C (p.Val354Ala)
c.959T>C (p.Val320Ala)
c.923T>C (p.Val308Ala)
c.764T>C (p.Val255Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909725A>TCA343774003SERPINC1c.980T>A (p.Val327Glu)
c.559+2139T>A (n.559+2139T>A)
c.836T>A (p.Val279Glu)
c.1103T>A (p.Val368Glu)
c.1061T>A (p.Val354Glu)
c.959T>A (p.Val320Glu)
c.923T>A (p.Val308Glu)
c.764T>A (p.Val255Glu)
1g.173909726C>ACA343774006SERPINC1c.979G>T (p.Val327Leu)
c.559+2138G>T (n.559+2138G>T)
c.835G>T (p.Val279Leu)
c.1102G>T (p.Val368Leu)
c.1060G>T (p.Val354Leu)
c.958G>T (p.Val320Leu)
c.922G>T (p.Val308Leu)
c.763G>T (p.Val255Leu)
1g.173909726C=CA1207936965SERPINC1c.979G= (p.Val327=)
c.559+2138G= (n.559+2138G=)
c.835G= (p.Val279=)
c.1102G= (p.Val368=)
c.1060G= (p.Val354=)
c.958G= (p.Val320=)
c.922G= (p.Val308=)
c.763G= (p.Val255=)
1g.173909726C>GCA343774007SERPINC1c.979G>C (p.Val327Leu)
c.559+2138G>C (n.559+2138G>C)
c.835G>C (p.Val279Leu)
c.1102G>C (p.Val368Leu)
c.1060G>C (p.Val354Leu)
c.958G>C (p.Val320Leu)
c.922G>C (p.Val308Leu)
c.763G>C (p.Val255Leu)
1g.173909726C>TCA343774009SERPINC1c.979G>A (p.Val327Ile)
c.559+2138G>A (n.559+2138G>A)
c.835G>A (p.Val279Ile)
c.1102G>A (p.Val368Ile)
c.1060G>A (p.Val354Ile)
c.958G>A (p.Val320Ile)
c.922G>A (p.Val308Ile)
c.763G>A (p.Val255Ile)
dbSNP
1g.173909727dupCA915940633SERPINC1c.979dup (p.Val327GlyfsTer16)
c.559+2138dup (n.559+2138dup)
c.835dup (p.Val279GlyfsTer16)
c.1102dup (p.Val368GlyfsTer16)
c.1060dup (p.Val354GlyfsTer16)
c.958dup (p.Val320GlyfsTer16)
c.922dup (p.Val308GlyfsTer16)
c.763dup (p.Val255GlyfsTer16)
1g.173909727C>ACA343774010SERPINC1c.978G>T (p.Lys326Asn)
c.559+2137G>T (n.559+2137G>T)
c.834G>T (p.Lys278Asn)
c.1101G>T (p.Lys367Asn)
c.1059G>T (p.Lys353Asn)
c.957G>T (p.Lys319Asn)
c.921G>T (p.Lys307Asn)
c.762G>T (p.Lys254Asn)
1g.173909727C=CA1207936966SERPINC1c.978G= (p.Lys326=)
c.559+2137G= (n.559+2137G=)
c.834G= (p.Lys278=)
c.1101G= (p.Lys367=)
c.1059G= (p.Lys353=)
c.957G= (p.Lys319=)
c.921G= (p.Lys307=)
c.762G= (p.Lys254=)
1g.173909727C>GCA343774012SERPINC1c.978G>C (p.Lys326Asn)
c.559+2137G>C (n.559+2137G>C)
c.834G>C (p.Lys278Asn)
c.1101G>C (p.Lys367Asn)
c.1059G>C (p.Lys353Asn)
c.957G>C (p.Lys319Asn)
c.921G>C (p.Lys307Asn)
c.762G>C (p.Lys254Asn)
1g.173909727C>TCA421942967SERPINC1c.978G>A (p.Lys326=)
c.559+2137G>A (n.559+2137G>A)
c.834G>A (p.Lys278=)
c.1101G>A (p.Lys367=)
c.1059G>A (p.Lys353=)
c.957G>A (p.Lys319=)
c.921G>A (p.Lys307=)
c.762G>A (p.Lys254=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.173909728T>ACA343774014SERPINC1c.977A>T (p.Lys326Met)
c.559+2136A>T (n.559+2136A>T)
c.833A>T (p.Lys278Met)
c.1100A>T (p.Lys367Met)
c.1058A>T (p.Lys353Met)
c.956A>T (p.Lys319Met)
c.920A>T (p.Lys307Met)
c.761A>T (p.Lys254Met)
1g.173909728T>CCA343774018SERPINC1c.977A>G (p.Lys326Arg)
c.559+2136A>G (n.559+2136A>G)
c.833A>G (p.Lys278Arg)
c.1100A>G (p.Lys367Arg)
c.1058A>G (p.Lys353Arg)
c.956A>G (p.Lys319Arg)
c.920A>G (p.Lys307Arg)
c.761A>G (p.Lys254Arg)
1g.173909728T>GCA343774016SERPINC1c.977A>C (p.Lys326Thr)
c.559+2136A>C (n.559+2136A>C)
c.833A>C (p.Lys278Thr)
c.1100A>C (p.Lys367Thr)
c.1058A>C (p.Lys353Thr)
c.956A>C (p.Lys319Thr)
c.920A>C (p.Lys307Thr)
c.761A>C (p.Lys254Thr)
1g.173909729T>ACA343774020SERPINC1c.976A>T (p.Lys326Ter)
c.559+2135A>T (n.559+2135A>T)
c.832A>T (p.Lys278Ter)
c.1099A>T (p.Lys367Ter)
c.1057A>T (p.Lys353Ter)
c.955A>T (p.Lys319Ter)
c.919A>T (p.Lys307Ter)
c.760A>T (p.Lys254Ter)
1g.173909729T>CCA343774022SERPINC1c.976A>G (p.Lys326Glu)
c.559+2135A>G (n.559+2135A>G)
c.832A>G (p.Lys278Glu)
c.1099A>G (p.Lys367Glu)
c.1057A>G (p.Lys353Glu)
c.955A>G (p.Lys319Glu)
c.919A>G (p.Lys307Glu)
c.760A>G (p.Lys254Glu)
dbSNP
1g.173909729T>GCA343774023SERPINC1c.976A>C (p.Lys326Gln)
c.559+2135A>C (n.559+2135A>C)
c.832A>C (p.Lys278Gln)
c.1099A>C (p.Lys367Gln)
c.1057A>C (p.Lys353Gln)
c.955A>C (p.Lys319Gln)
c.919A>C (p.Lys307Gln)
c.760A>C (p.Lys254Gln)
1g.173909729T=CA1207936967SERPINC1c.976A= (p.Lys326=)
c.559+2135A= (n.559+2135A=)
c.832A= (p.Lys278=)
c.1099A= (p.Lys367=)
c.1057A= (p.Lys353=)
c.955A= (p.Lys319=)
c.919A= (p.Lys307=)
c.760A= (p.Lys254=)
1g.173909730G>ACA421942970SERPINC1c.975C>T (p.Ala325=)
n.626C>T
c.559+2134C>T (n.559+2134C>T)
c.831C>T (p.Ala277=)
c.1098C>T (p.Ala366=)
c.1056C>T (p.Ala352=)
c.954C>T (p.Ala318=)
c.918C>T (p.Ala306=)
c.759C>T (p.Ala253=)
1g.173909730G>CCA1251302SERPINC1c.975C>G (p.Ala325=)
n.626C>G
c.559+2134C>G (n.559+2134C>G)
c.831C>G (p.Ala277=)
c.1098C>G (p.Ala366=)
c.1056C>G (p.Ala352=)
c.954C>G (p.Ala318=)
c.918C>G (p.Ala306=)
c.759C>G (p.Ala253=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.173909730G=CA1143444881SERPINC1c.975C= (p.Ala325=)
n.626C=
c.559+2134C= (n.559+2134C=)
c.831C= (p.Ala277=)
c.1098C= (p.Ala366=)
c.1056C= (p.Ala352=)
c.954C= (p.Ala318=)
c.918C= (p.Ala306=)
c.759C= (p.Ala253=)
1g.173909730G>TCA421942971SERPINC1c.975C>A (p.Ala325=)
n.626C>A
c.559+2134C>A (n.559+2134C>A)
c.831C>A (p.Ala277=)
c.1098C>A (p.Ala366=)
c.1056C>A (p.Ala352=)
c.954C>A (p.Ala318=)
c.918C>A (p.Ala306=)
c.759C>A (p.Ala253=)
1g.173909731G>ACA343774024SERPINC1c.974C>T (p.Ala325Val)
n.625C>T
c.559+2133C>T (n.559+2133C>T)
c.830C>T (p.Ala277Val)
c.1097C>T (p.Ala366Val)
c.1055C>T (p.Ala352Val)
c.953C>T (p.Ala318Val)
c.917C>T (p.Ala306Val)
c.758C>T (p.Ala253Val)
dbSNP gnomAD v4
1g.173909731G>CCA343774027SERPINC1c.974C>G (p.Ala325Gly)
n.625C>G
c.559+2133C>G (n.559+2133C>G)
c.830C>G (p.Ala277Gly)
c.1097C>G (p.Ala366Gly)
c.1055C>G (p.Ala352Gly)
c.953C>G (p.Ala318Gly)
c.917C>G (p.Ala306Gly)
c.758C>G (p.Ala253Gly)
1g.173909731G>TCA343774026SERPINC1c.974C>A (p.Ala325Asp)
n.625C>A
c.559+2133C>A (n.559+2133C>A)
c.830C>A (p.Ala277Asp)
c.1097C>A (p.Ala366Asp)
c.1055C>A (p.Ala352Asp)
c.953C>A (p.Ala318Asp)
c.917C>A (p.Ala306Asp)
c.758C>A (p.Ala253Asp)
1g.173909732C>ACA343774030SERPINC1c.973G>T (p.Ala325Ser)
n.624G>T
c.559+2132G>T (n.559+2132G>T)
c.829G>T (p.Ala277Ser)
c.1096G>T (p.Ala366Ser)
c.1054G>T (p.Ala352Ser)
c.952G>T (p.Ala318Ser)
c.916G>T (p.Ala306Ser)
c.757G>T (p.Ala253Ser)
1g.173909732C=CA1207936968SERPINC1c.973G= (p.Ala325=)
n.624G=
c.559+2132G= (n.559+2132G=)
c.829G= (p.Ala277=)
c.1096G= (p.Ala366=)
c.1054G= (p.Ala352=)
c.952G= (p.Ala318=)
c.916G= (p.Ala306=)
c.757G= (p.Ala253=)
1g.173909732C>GCA343774031SERPINC1c.973G>C (p.Ala325Pro)
n.624G>C
c.559+2132G>C (n.559+2132G>C)
c.829G>C (p.Ala277Pro)
c.1096G>C (p.Ala366Pro)
c.1054G>C (p.Ala352Pro)
c.952G>C (p.Ala318Pro)
c.916G>C (p.Ala306Pro)
c.757G>C (p.Ala253Pro)
dbSNP
1g.173909732C>TCA343774033SERPINC1c.973G>A (p.Ala325Thr)
n.624G>A
c.559+2132G>A (n.559+2132G>A)
c.829G>A (p.Ala277Thr)
c.1096G>A (p.Ala366Thr)
c.1054G>A (p.Ala352Thr)
c.952G>A (p.Ala318Thr)
c.916G>A (p.Ala306Thr)
c.757G>A (p.Ala253Thr)
dbSNP gnomAD v2 gnomAD v4
1g.173909733C>ACA421942974SERPINC1c.972G>T (p.Leu324=)
n.623G>T
c.559+2131G>T (n.559+2131G>T)
c.828G>T (p.Leu276=)
c.1095G>T (p.Leu365=)
c.1053G>T (p.Leu351=)
c.951G>T (p.Leu317=)
c.915G>T (p.Leu305=)
c.756G>T (p.Leu252=)
1g.173909733C=CA1207936969SERPINC1c.972G= (p.Leu324=)
n.623G=
c.559+2131G= (n.559+2131G=)
c.828G= (p.Leu276=)
c.1095G= (p.Leu365=)
c.1053G= (p.Leu351=)
c.951G= (p.Leu317=)
c.915G= (p.Leu305=)
c.756G= (p.Leu252=)
1g.173909733C>GCA421942975SERPINC1c.972G>C (p.Leu324=)
n.623G>C
c.559+2131G>C (n.559+2131G>C)
c.828G>C (p.Leu276=)
c.1095G>C (p.Leu365=)
c.1053G>C (p.Leu351=)
c.951G>C (p.Leu317=)
c.915G>C (p.Leu305=)
c.756G>C (p.Leu252=)
1g.173909733C>TCA421942976SERPINC1c.972G>A (p.Leu324=)
n.623G>A
c.559+2131G>A (n.559+2131G>A)
c.828G>A (p.Leu276=)
c.1095G>A (p.Leu365=)
c.1053G>A (p.Leu351=)
c.951G>A (p.Leu317=)
c.915G>A (p.Leu305=)
c.756G>A (p.Leu252=)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched