Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.173908360_173915405del | CA2573051419 | SERPINC1 | c.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 |
1 | g.173909622_173910322del | CA2573051420 | SERPINC1 | c.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 |
1 | g.173909722T>A | CA343773991 | SERPINC1 | c.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) | |
1 | g.173909722T>C | CA32780315 | SERPINC1 | c.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 |
1 | g.173909722T>G | CA343773994 | SERPINC1 | c.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) | |
1 | g.173909722T= | CA1207936962 | SERPINC1 | c.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=) | |
1 | g.173909723C>A | CA343773996 | SERPINC1 | c.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) | |
1 | g.173909723C= | CA1207936963 | SERPINC1 | c.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=) | |
1 | g.173909723C>G | CA343773997 | SERPINC1 | c.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 |
1 | g.173909723C>T | CA343773999 | SERPINC1 | c.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) | |
1 | g.173909724del | CA2582342993 | SERPINC1 | c.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) | |
1 | g.173909724T>A | CA421942963 | SERPINC1 | c.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 |
1 | g.173909724T>C | CA1251300 | SERPINC1 | c.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 |
1 | g.173909724T>G | CA421942965 | SERPINC1 | c.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=) | |
1 | g.173909724T= | CA1139773037 | SERPINC1 | c.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=) | |
1 | g.173909725A= | CA1207936964 | SERPINC1 | c.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=) | |
1 | g.173909725A>C | CA343774004 | SERPINC1 | c.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) | |
1 | g.173909725A>G | CA1251301 | SERPINC1 | c.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 |
1 | g.173909725A>T | CA343774003 | SERPINC1 | c.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) | |
1 | g.173909726C>A | CA343774006 | SERPINC1 | c.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) | |
1 | g.173909726C= | CA1207936965 | SERPINC1 | c.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=) | |
1 | g.173909726C>G | CA343774007 | SERPINC1 | c.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) | |
1 | g.173909726C>T | CA343774009 | SERPINC1 | c.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 |
1 | g.173909727dup | CA915940633 | SERPINC1 | c.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) | |
1 | g.173909727C>A | CA343774010 | SERPINC1 | c.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) | |
1 | g.173909727C= | CA1207936966 | SERPINC1 | c.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=) | |
1 | g.173909727C>G | CA343774012 | SERPINC1 | c.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) | |
1 | g.173909727C>T | CA421942967 | SERPINC1 | c.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 |
1 | g.173909728T>A | CA343774014 | SERPINC1 | c.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) | |
1 | g.173909728T>C | CA343774018 | SERPINC1 | c.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) | |
1 | g.173909728T>G | CA343774016 | SERPINC1 | c.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) | |
1 | g.173909729T>A | CA343774020 | SERPINC1 | c.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) | |
1 | g.173909729T>C | CA343774022 | SERPINC1 | c.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 |
1 | g.173909729T>G | CA343774023 | SERPINC1 | c.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) | |
1 | g.173909729T= | CA1207936967 | SERPINC1 | c.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=) | |
1 | g.173909730G>A | CA421942970 | SERPINC1 | c.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=) | |
1 | g.173909730G>C | CA1251302 | SERPINC1 | c.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 |
1 | g.173909730G= | CA1143444881 | SERPINC1 | c.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=) | |
1 | g.173909730G>T | CA421942971 | SERPINC1 | c.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=) | |
1 | g.173909731G>A | CA343774024 | SERPINC1 | c.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 |
1 | g.173909731G>C | CA343774027 | SERPINC1 | c.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) | |
1 | g.173909731G>T | CA343774026 | SERPINC1 | c.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) | |
1 | g.173909732C>A | CA343774030 | SERPINC1 | c.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) | |
1 | g.173909732C= | CA1207936968 | SERPINC1 | c.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=) | |
1 | g.173909732C>G | CA343774031 | SERPINC1 | c.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 |
1 | g.173909732C>T | CA343774033 | SERPINC1 | c.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 |
1 | g.173909733C>A | CA421942974 | SERPINC1 | c.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=) | |
1 | g.173909733C= | CA1207936969 | SERPINC1 | c.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=) | |
1 | g.173909733C>G | CA421942975 | SERPINC1 | c.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=) | |
1 | g.173909733C>T | CA421942976 | SERPINC1 | c.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 |