| 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.173909744C>A | CA343774087 | SERPINC1 | c.961G>T (p.Glu321Ter) n.612G>T c.559+2120G>T (n.559+2120G>T) c.817G>T (p.Glu273Ter) c.1084G>T (p.Glu362Ter) c.1042G>T (p.Glu348Ter) c.940G>T (p.Glu314Ter) c.904G>T (p.Glu302Ter) c.745G>T (p.Glu249Ter) | |
| 1 | g.173909744C= | CA1207936975 | SERPINC1 | c.961G= (p.Glu321=) n.612G= c.559+2120G= (n.559+2120G=) c.817G= (p.Glu273=) c.1084G= (p.Glu362=) c.1042G= (p.Glu348=) c.940G= (p.Glu314=) c.904G= (p.Glu302=) c.745G= (p.Glu249=) | |
| 1 | g.173909744C>G | CA343774083 | SERPINC1 | c.961G>C (p.Glu321Gln) n.612G>C c.559+2120G>C (n.559+2120G>C) c.817G>C (p.Glu273Gln) c.1084G>C (p.Glu362Gln) c.1042G>C (p.Glu348Gln) c.940G>C (p.Glu314Gln) c.904G>C (p.Glu302Gln) c.745G>C (p.Glu249Gln) | |
| 1 | g.173909744C>T | CA343774085 | SERPINC1 | c.961G>A (p.Glu321Lys) n.612G>A c.559+2120G>A (n.559+2120G>A) c.817G>A (p.Glu273Lys) c.1084G>A (p.Glu362Lys) c.1042G>A (p.Glu348Lys) c.940G>A (p.Glu314Lys) c.904G>A (p.Glu302Lys) c.745G>A (p.Glu249Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909745A= | CA1207936976 | SERPINC1 | c.960T= (p.Pro320=) n.611T= c.559+2119T= (n.559+2119T=) c.816T= (p.Pro272=) c.1083T= (p.Pro361=) c.1041T= (p.Pro347=) c.939T= (p.Pro313=) c.903T= (p.Pro301=) c.744T= (p.Pro248=) | |
| 1 | g.173909745A>C | CA421942989 | SERPINC1 | c.960T>G (p.Pro320=) n.611T>G c.559+2119T>G (n.559+2119T>G) c.816T>G (p.Pro272=) c.1083T>G (p.Pro361=) c.1041T>G (p.Pro347=) c.939T>G (p.Pro313=) c.903T>G (p.Pro301=) c.744T>G (p.Pro248=) | gnomAD v3 gnomAD v4 |
| 1 | g.173909745A>G | CA421942990 | SERPINC1 | c.960T>C (p.Pro320=) n.611T>C c.559+2119T>C (n.559+2119T>C) c.816T>C (p.Pro272=) c.1083T>C (p.Pro361=) c.1041T>C (p.Pro347=) c.939T>C (p.Pro313=) c.903T>C (p.Pro301=) c.744T>C (p.Pro248=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909745A>T | CA421942991 | SERPINC1 | c.960T>A (p.Pro320=) n.611T>A c.559+2119T>A (n.559+2119T>A) c.816T>A (p.Pro272=) c.1083T>A (p.Pro361=) c.1041T>A (p.Pro347=) c.939T>A (p.Pro313=) c.903T>A (p.Pro301=) c.744T>A (p.Pro248=) | |
| 1 | g.173909746G>A | CA343774089 | SERPINC1 | c.959C>T (p.Pro320Leu) n.610C>T c.559+2118C>T (n.559+2118C>T) c.815C>T (p.Pro272Leu) c.1082C>T (p.Pro361Leu) c.1040C>T (p.Pro347Leu) c.938C>T (p.Pro313Leu) c.902C>T (p.Pro301Leu) c.743C>T (p.Pro248Leu) | dbSNP |
| 1 | g.173909746G>C | CA343774091 | SERPINC1 | c.959C>G (p.Pro320Arg) n.610C>G c.559+2118C>G (n.559+2118C>G) c.815C>G (p.Pro272Arg) c.1082C>G (p.Pro361Arg) c.1040C>G (p.Pro347Arg) c.938C>G (p.Pro313Arg) c.902C>G (p.Pro301Arg) c.743C>G (p.Pro248Arg) | |
| 1 | g.173909746G= | CA1207936977 | SERPINC1 | c.959C= (p.Pro320=) n.610C= c.559+2118C= (n.559+2118C=) c.815C= (p.Pro272=) c.1082C= (p.Pro361=) c.1040C= (p.Pro347=) c.938C= (p.Pro313=) c.902C= (p.Pro301=) c.743C= (p.Pro248=) | |
| 1 | g.173909746G>T | CA343774093 | SERPINC1 | c.959C>A (p.Pro320His) n.610C>A c.559+2118C>A (n.559+2118C>A) c.815C>A (p.Pro272His) c.1082C>A (p.Pro361His) c.1040C>A (p.Pro347His) c.938C>A (p.Pro313His) c.902C>A (p.Pro301His) c.743C>A (p.Pro248His) | |
| 1 | g.173909747G>A | CA1251304 | SERPINC1 | c.958C>T (p.Pro320Ser) n.609C>T c.559+2117C>T (n.559+2117C>T) c.814C>T (p.Pro272Ser) c.1081C>T (p.Pro361Ser) c.1039C>T (p.Pro347Ser) c.937C>T (p.Pro313Ser) c.901C>T (p.Pro301Ser) c.742C>T (p.Pro248Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909747G>C | CA343774096 | SERPINC1 | c.958C>G (p.Pro320Ala) n.609C>G c.559+2117C>G (n.559+2117C>G) c.814C>G (p.Pro272Ala) c.1081C>G (p.Pro361Ala) c.1039C>G (p.Pro347Ala) c.937C>G (p.Pro313Ala) c.901C>G (p.Pro301Ala) c.742C>G (p.Pro248Ala) | |
| 1 | g.173909747G= | CA1207936978 | SERPINC1 | c.958C= (p.Pro320=) n.609C= c.559+2117C= (n.559+2117C=) c.814C= (p.Pro272=) c.1081C= (p.Pro361=) c.1039C= (p.Pro347=) c.937C= (p.Pro313=) c.901C= (p.Pro301=) c.742C= (p.Pro248=) | |
| 1 | g.173909747G>T | CA343774098 | SERPINC1 | c.958C>A (p.Pro320Thr) n.609C>A c.559+2117C>A (n.559+2117C>A) c.814C>A (p.Pro272Thr) c.1081C>A (p.Pro361Thr) c.1039C>A (p.Pro347Thr) c.937C>A (p.Pro313Thr) c.901C>A (p.Pro301Thr) c.742C>A (p.Pro248Thr) | |
| 1 | g.173909748C>A | CA343774100 | SERPINC1 | c.957G>T (p.Lys319Asn) n.608G>T c.559+2116G>T (n.559+2116G>T) c.813G>T (p.Lys271Asn) c.1080G>T (p.Lys360Asn) c.1038G>T (p.Lys346Asn) c.936G>T (p.Lys312Asn) c.900G>T (p.Lys300Asn) c.741G>T (p.Lys247Asn) | |
| 1 | g.173909748C= | CA1207936979 | SERPINC1 | c.957G= (p.Lys319=) n.608G= c.559+2116G= (n.559+2116G=) c.813G= (p.Lys271=) c.1080G= (p.Lys360=) c.1038G= (p.Lys346=) c.936G= (p.Lys312=) c.900G= (p.Lys300=) c.741G= (p.Lys247=) | |
| 1 | g.173909748C>G | CA343774101 | SERPINC1 | c.957G>C (p.Lys319Asn) n.608G>C c.559+2116G>C (n.559+2116G>C) c.813G>C (p.Lys271Asn) c.1080G>C (p.Lys360Asn) c.1038G>C (p.Lys346Asn) c.936G>C (p.Lys312Asn) c.900G>C (p.Lys300Asn) c.741G>C (p.Lys247Asn) | |
| 1 | g.173909748C>T | CA421942993 | SERPINC1 | c.957G>A (p.Lys319=) n.608G>A c.559+2116G>A (n.559+2116G>A) c.813G>A (p.Lys271=) c.1080G>A (p.Lys360=) c.1038G>A (p.Lys346=) c.936G>A (p.Lys312=) c.900G>A (p.Lys300=) c.741G>A (p.Lys247=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.173909749T>A | CA343774103 | SERPINC1 | c.956A>T (p.Lys319Met) n.607A>T c.559+2115A>T (n.559+2115A>T) c.812A>T (p.Lys271Met) c.1079A>T (p.Lys360Met) c.1037A>T (p.Lys346Met) c.935A>T (p.Lys312Met) c.899A>T (p.Lys300Met) c.740A>T (p.Lys247Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.173909749T>C | CA343774105 | SERPINC1 | c.956A>G (p.Lys319Arg) n.607A>G c.559+2115A>G (n.559+2115A>G) c.812A>G (p.Lys271Arg) c.1079A>G (p.Lys360Arg) c.1037A>G (p.Lys346Arg) c.935A>G (p.Lys312Arg) c.899A>G (p.Lys300Arg) c.740A>G (p.Lys247Arg) | gnomAD v4 |
| 1 | g.173909749T>G | CA343774107 | SERPINC1 | c.956A>C (p.Lys319Thr) n.607A>C c.559+2115A>C (n.559+2115A>C) c.812A>C (p.Lys271Thr) c.1079A>C (p.Lys360Thr) c.1037A>C (p.Lys346Thr) c.935A>C (p.Lys312Thr) c.899A>C (p.Lys300Thr) c.740A>C (p.Lys247Thr) | |
| 1 | g.173909749T= | CA1207936980 | SERPINC1 | c.956A= (p.Lys319=) n.607A= c.559+2115A= (n.559+2115A=) c.812A= (p.Lys271=) c.1079A= (p.Lys360=) c.1037A= (p.Lys346=) c.935A= (p.Lys312=) c.899A= (p.Lys300=) c.740A= (p.Lys247=) | |
| 1 | g.173909750T>A | CA343774110 | SERPINC1 | c.955A>T (p.Lys319Ter) n.606A>T c.559+2114A>T (n.559+2114A>T) c.811A>T (p.Lys271Ter) c.1078A>T (p.Lys360Ter) c.1036A>T (p.Lys346Ter) c.934A>T (p.Lys312Ter) c.898A>T (p.Lys300Ter) c.739A>T (p.Lys247Ter) | |
| 1 | g.173909750T>C | CA343774112 | SERPINC1 | c.955A>G (p.Lys319Glu) n.606A>G c.559+2114A>G (n.559+2114A>G) c.811A>G (p.Lys271Glu) c.1078A>G (p.Lys360Glu) c.1036A>G (p.Lys346Glu) c.934A>G (p.Lys312Glu) c.898A>G (p.Lys300Glu) c.739A>G (p.Lys247Glu) | |
| 1 | g.173909750T>G | CA343774108 | SERPINC1 | c.955A>C (p.Lys319Gln) n.606A>C c.559+2114A>C (n.559+2114A>C) c.811A>C (p.Lys271Gln) c.1078A>C (p.Lys360Gln) c.1036A>C (p.Lys346Gln) c.934A>C (p.Lys312Gln) c.898A>C (p.Lys300Gln) c.739A>C (p.Lys247Gln) | |
| 1 | g.173909751G>A | CA421943001 | SERPINC1 | c.954C>T (p.Pro318=) n.605C>T c.559+2113C>T (n.559+2113C>T) c.810C>T (p.Pro270=) c.1077C>T (p.Pro359=) c.1035C>T (p.Pro345=) c.933C>T (p.Pro311=) c.897C>T (p.Pro299=) c.738C>T (p.Pro246=) | |
| 1 | g.173909751G>C | CA421943002 | SERPINC1 | c.954C>G (p.Pro318=) n.605C>G c.559+2113C>G (n.559+2113C>G) c.810C>G (p.Pro270=) c.1077C>G (p.Pro359=) c.1035C>G (p.Pro345=) c.933C>G (p.Pro311=) c.897C>G (p.Pro299=) c.738C>G (p.Pro246=) | |
| 1 | g.173909751G>T | CA421943003 | SERPINC1 | c.954C>A (p.Pro318=) n.605C>A c.559+2113C>A (n.559+2113C>A) c.810C>A (p.Pro270=) c.1077C>A (p.Pro359=) c.1035C>A (p.Pro345=) c.933C>A (p.Pro311=) c.897C>A (p.Pro299=) c.738C>A (p.Pro246=) | |
| 1 | g.173909752G>A | CA343774114 | SERPINC1 | c.953C>T (p.Pro318Leu) n.604C>T c.559+2112C>T (n.559+2112C>T) c.809C>T (p.Pro270Leu) c.1076C>T (p.Pro359Leu) c.1034C>T (p.Pro345Leu) c.932C>T (p.Pro311Leu) c.896C>T (p.Pro299Leu) c.737C>T (p.Pro246Leu) | ClinVar dbSNP |
| 1 | g.173909752G>C | CA343774116 | SERPINC1 | c.953C>G (p.Pro318Arg) n.604C>G c.559+2112C>G (n.559+2112C>G) c.809C>G (p.Pro270Arg) c.1076C>G (p.Pro359Arg) c.1034C>G (p.Pro345Arg) c.932C>G (p.Pro311Arg) c.896C>G (p.Pro299Arg) c.737C>G (p.Pro246Arg) | |
| 1 | g.173909752G= | CA1207936981 | SERPINC1 | c.953C= (p.Pro318=) n.604C= c.559+2112C= (n.559+2112C=) c.809C= (p.Pro270=) c.1076C= (p.Pro359=) c.1034C= (p.Pro345=) c.932C= (p.Pro311=) c.896C= (p.Pro299=) c.737C= (p.Pro246=) | |
| 1 | g.173909752G>T | CA343774118 | SERPINC1 | c.953C>A (p.Pro318His) n.604C>A c.559+2112C>A (n.559+2112C>A) c.809C>A (p.Pro270His) c.1076C>A (p.Pro359His) c.1034C>A (p.Pro345His) c.932C>A (p.Pro311His) c.896C>A (p.Pro299His) c.737C>A (p.Pro246His) | |
| 1 | g.173909753G>A | CA343774120 | SERPINC1 | c.952C>T (p.Pro318Ser) n.603C>T c.559+2111C>T (n.559+2111C>T) c.808C>T (p.Pro270Ser) c.1075C>T (p.Pro359Ser) c.1033C>T (p.Pro345Ser) c.931C>T (p.Pro311Ser) c.895C>T (p.Pro299Ser) c.736C>T (p.Pro246Ser) | |
| 1 | g.173909753G>C | CA1251305 | SERPINC1 | c.952C>G (p.Pro318Ala) n.603C>G c.559+2111C>G (n.559+2111C>G) c.808C>G (p.Pro270Ala) c.1075C>G (p.Pro359Ala) c.1033C>G (p.Pro345Ala) c.931C>G (p.Pro311Ala) c.895C>G (p.Pro299Ala) c.736C>G (p.Pro246Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.173909753G= | CA1207936982 | SERPINC1 | c.952C= (p.Pro318=) n.603C= c.559+2111C= (n.559+2111C=) c.808C= (p.Pro270=) c.1075C= (p.Pro359=) c.1033C= (p.Pro345=) c.931C= (p.Pro311=) c.895C= (p.Pro299=) c.736C= (p.Pro246=) | |
| 1 | g.173909753G>T | CA343774123 | SERPINC1 | c.952C>A (p.Pro318Thr) n.603C>A c.559+2111C>A (n.559+2111C>A) c.808C>A (p.Pro270Thr) c.1075C>A (p.Pro359Thr) c.1033C>A (p.Pro345Thr) c.931C>A (p.Pro311Thr) c.895C>A (p.Pro299Thr) c.736C>A (p.Pro246Thr) | |
| 1 | g.173909754C>A | CA343774127 | SERPINC1 | c.951G>T (p.Leu317Phe) n.602G>T c.559+2110G>T (n.559+2110G>T) c.807G>T (p.Leu269Phe) c.1074G>T (p.Leu358Phe) c.1032G>T (p.Leu344Phe) c.930G>T (p.Leu310Phe) c.894G>T (p.Leu298Phe) c.735G>T (p.Leu245Phe) | ClinVar dbSNP |
| 1 | g.173909754C= | CA1207936983 | SERPINC1 | c.951G= (p.Leu317=) n.602G= c.559+2110G= (n.559+2110G=) c.807G= (p.Leu269=) c.1074G= (p.Leu358=) c.1032G= (p.Leu344=) c.930G= (p.Leu310=) c.894G= (p.Leu298=) c.735G= (p.Leu245=) | |
| 1 | g.173909754C>G | CA343774125 | SERPINC1 | c.951G>C (p.Leu317Phe) n.602G>C c.559+2110G>C (n.559+2110G>C) c.807G>C (p.Leu269Phe) c.1074G>C (p.Leu358Phe) c.1032G>C (p.Leu344Phe) c.930G>C (p.Leu310Phe) c.894G>C (p.Leu298Phe) c.735G>C (p.Leu245Phe) | |
| 1 | g.173909754C>T | CA421943006 | SERPINC1 | c.951G>A (p.Leu317=) n.602G>A c.559+2110G>A (n.559+2110G>A) c.807G>A (p.Leu269=) c.1074G>A (p.Leu358=) c.1032G>A (p.Leu344=) c.930G>A (p.Leu310=) c.894G>A (p.Leu298=) c.735G>A (p.Leu245=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.173909755A>C | CA343774129 | SERPINC1 | c.950T>G (p.Leu317Trp) n.601T>G c.559+2109T>G (n.559+2109T>G) c.806T>G (p.Leu269Trp) c.1073T>G (p.Leu358Trp) c.1031T>G (p.Leu344Trp) c.929T>G (p.Leu310Trp) c.893T>G (p.Leu298Trp) c.734T>G (p.Leu245Trp) | |
| 1 | g.173909755A>G | CA343774131 | SERPINC1 | c.950T>C (p.Leu317Ser) n.601T>C c.559+2109T>C (n.559+2109T>C) c.806T>C (p.Leu269Ser) c.1073T>C (p.Leu358Ser) c.1031T>C (p.Leu344Ser) c.929T>C (p.Leu310Ser) c.893T>C (p.Leu298Ser) c.734T>C (p.Leu245Ser) | |
| 1 | g.173909755A>T | CA343774133 | SERPINC1 | c.950T>A (p.Leu317Ter) n.601T>A c.559+2109T>A (n.559+2109T>A) c.806T>A (p.Leu269Ter) c.1073T>A (p.Leu358Ter) c.1031T>A (p.Leu344Ter) c.929T>A (p.Leu310Ter) c.893T>A (p.Leu298Ter) c.734T>A (p.Leu245Ter) | |
| 1 | g.173909756A= | CA1207936984 | SERPINC1 | c.949T= (p.Leu317=) n.600T= c.559+2108T= (n.559+2108T=) c.805T= (p.Leu269=) c.1072T= (p.Leu358=) c.1030T= (p.Leu344=) c.928T= (p.Leu310=) c.892T= (p.Leu298=) c.733T= (p.Leu245=) | |
| 1 | g.173909756A>C | CA343774135 | SERPINC1 | c.949T>G (p.Leu317Val) n.600T>G c.559+2108T>G (n.559+2108T>G) c.805T>G (p.Leu269Val) c.1072T>G (p.Leu358Val) c.1030T>G (p.Leu344Val) c.928T>G (p.Leu310Val) c.892T>G (p.Leu298Val) c.733T>G (p.Leu245Val) | |
| 1 | g.173909756A>G | CA421943008 | SERPINC1 | c.949T>C (p.Leu317=) n.600T>C c.559+2108T>C (n.559+2108T>C) c.805T>C (p.Leu269=) c.1072T>C (p.Leu358=) c.1030T>C (p.Leu344=) c.928T>C (p.Leu310=) c.892T>C (p.Leu298=) c.733T>C (p.Leu245=) | dbSNP |