| 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.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 |
| 1 | g.173909756A>T | CA343774136 | SERPINC1 | c.949T>A (p.Leu317Met) n.600T>A c.559+2108T>A (n.559+2108T>A) c.805T>A (p.Leu269Met) c.1072T>A (p.Leu358Met) c.1030T>A (p.Leu344Met) c.928T>A (p.Leu310Met) c.892T>A (p.Leu298Met) c.733T>A (p.Leu245Met) | |
| 1 | g.173909757del | CA2586964405 | SERPINC1 | c.948del (p.Leu317CysfsTer11) n.599del c.559+2107del (n.559+2107del) c.804del (p.Leu269CysfsTer11) c.1071del (p.Leu358CysfsTer11) c.1029del (p.Leu344CysfsTer11) c.927del (p.Leu310CysfsTer11) c.891del (p.Leu298CysfsTer11) c.732del (p.Leu245CysfsTer11) | |
| 1 | g.173909757G>A | CA421943010 | SERPINC1 | c.948C>T (p.Ile316=) n.599C>T c.559+2107C>T (n.559+2107C>T) c.804C>T (p.Ile268=) c.1071C>T (p.Ile357=) c.1029C>T (p.Ile343=) c.927C>T (p.Ile309=) c.891C>T (p.Ile297=) c.732C>T (p.Ile244=) | |
| 1 | g.173909757G>C | CA343774139 | SERPINC1 | c.948C>G (p.Ile316Met) n.599C>G c.559+2107C>G (n.559+2107C>G) c.804C>G (p.Ile268Met) c.1071C>G (p.Ile357Met) c.1029C>G (p.Ile343Met) c.927C>G (p.Ile309Met) c.891C>G (p.Ile297Met) c.732C>G (p.Ile244Met) | COSMIC |
| 1 | g.173909757G>T | CA421943011 | SERPINC1 | c.948C>A (p.Ile316=) n.599C>A c.559+2107C>A (n.559+2107C>A) c.804C>A (p.Ile268=) c.1071C>A (p.Ile357=) c.1029C>A (p.Ile343=) c.927C>A (p.Ile309=) c.891C>A (p.Ile297=) c.732C>A (p.Ile244=) | |
| 1 | g.173909758A>C | CA343774141 | SERPINC1 | c.947T>G (p.Ile316Ser) n.598T>G c.559+2106T>G (n.559+2106T>G) c.803T>G (p.Ile268Ser) c.1070T>G (p.Ile357Ser) c.1028T>G (p.Ile343Ser) c.926T>G (p.Ile309Ser) c.890T>G (p.Ile297Ser) c.731T>G (p.Ile244Ser) | |
| 1 | g.173909758A>G | CA343774144 | SERPINC1 | c.947T>C (p.Ile316Thr) n.598T>C c.559+2106T>C (n.559+2106T>C) c.803T>C (p.Ile268Thr) c.1070T>C (p.Ile357Thr) c.1028T>C (p.Ile343Thr) c.926T>C (p.Ile309Thr) c.890T>C (p.Ile297Thr) c.731T>C (p.Ile244Thr) | |
| 1 | g.173909758A>T | CA343774142 | SERPINC1 | c.947T>A (p.Ile316Asn) n.598T>A c.559+2106T>A (n.559+2106T>A) c.803T>A (p.Ile268Asn) c.1070T>A (p.Ile357Asn) c.1028T>A (p.Ile343Asn) c.926T>A (p.Ile309Asn) c.890T>A (p.Ile297Asn) c.731T>A (p.Ile244Asn) | |
| 1 | g.173909759T>A | CA343774146 | SERPINC1 | c.946A>T (p.Ile316Phe) n.597A>T c.559+2105A>T (n.559+2105A>T) c.802A>T (p.Ile268Phe) c.1069A>T (p.Ile357Phe) c.1027A>T (p.Ile343Phe) c.925A>T (p.Ile309Phe) c.889A>T (p.Ile297Phe) c.730A>T (p.Ile244Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.173909759T>C | CA343774148 | SERPINC1 | c.946A>G (p.Ile316Val) n.597A>G c.559+2105A>G (n.559+2105A>G) c.802A>G (p.Ile268Val) c.1069A>G (p.Ile357Val) c.1027A>G (p.Ile343Val) c.925A>G (p.Ile309Val) c.889A>G (p.Ile297Val) c.730A>G (p.Ile244Val) | |
| 1 | g.173909759T>G | CA343774150 | SERPINC1 | c.946A>C (p.Ile316Leu) n.597A>C c.559+2105A>C (n.559+2105A>C) c.802A>C (p.Ile268Leu) c.1069A>C (p.Ile357Leu) c.1027A>C (p.Ile343Leu) c.925A>C (p.Ile309Leu) c.889A>C (p.Ile297Leu) c.730A>C (p.Ile244Leu) | |
| 1 | g.173909759T= | CA1207936985 | SERPINC1 | c.946A= (p.Ile316=) n.597A= c.559+2105A= (n.559+2105A=) c.802A= (p.Ile268=) c.1069A= (p.Ile357=) c.1027A= (p.Ile343=) c.925A= (p.Ile309=) c.889A= (p.Ile297=) c.730A= (p.Ile244=) | |
| 1 | g.173909760G>A | CA421943014 | SERPINC1 | c.945C>T (p.Leu315=) n.596C>T c.559+2104C>T (n.559+2104C>T) c.801C>T (p.Leu267=) c.1068C>T (p.Leu356=) c.1026C>T (p.Leu342=) c.924C>T (p.Leu308=) c.888C>T (p.Leu296=) c.729C>T (p.Leu243=) | |
| 1 | g.173909760G>C | CA421943015 | SERPINC1 | c.945C>G (p.Leu315=) n.596C>G c.559+2104C>G (n.559+2104C>G) c.801C>G (p.Leu267=) c.1068C>G (p.Leu356=) c.1026C>G (p.Leu342=) c.924C>G (p.Leu308=) c.888C>G (p.Leu296=) c.729C>G (p.Leu243=) | |
| 1 | g.173909760G>T | CA421943016 | SERPINC1 | c.945C>A (p.Leu315=) n.596C>A c.559+2104C>A (n.559+2104C>A) c.801C>A (p.Leu267=) c.1068C>A (p.Leu356=) c.1026C>A (p.Leu342=) c.924C>A (p.Leu308=) c.888C>A (p.Leu296=) c.729C>A (p.Leu243=) | |
| 1 | g.173909761A>C | CA343774152 | SERPINC1 | c.944T>G (p.Leu315Arg) n.595T>G c.559+2103T>G (n.559+2103T>G) c.800T>G (p.Leu267Arg) c.1067T>G (p.Leu356Arg) c.1025T>G (p.Leu342Arg) c.923T>G (p.Leu308Arg) c.887T>G (p.Leu296Arg) c.728T>G (p.Leu243Arg) | |
| 1 | g.173909761A>G | CA343774153 | SERPINC1 | c.944T>C (p.Leu315Pro) n.595T>C c.559+2103T>C (n.559+2103T>C) c.800T>C (p.Leu267Pro) c.1067T>C (p.Leu356Pro) c.1025T>C (p.Leu342Pro) c.923T>C (p.Leu308Pro) c.887T>C (p.Leu296Pro) c.728T>C (p.Leu243Pro) | |
| 1 | g.173909761A>T | CA343774154 | SERPINC1 | c.944T>A (p.Leu315His) n.595T>A c.559+2103T>A (n.559+2103T>A) c.800T>A (p.Leu267His) c.1067T>A (p.Leu356His) c.1025T>A (p.Leu342His) c.923T>A (p.Leu308His) c.887T>A (p.Leu296His) c.728T>A (p.Leu243His) | |
| 1 | g.173909762G>A | CA343774155 | SERPINC1 | c.943C>T (p.Leu315Phe) n.594C>T c.559+2102C>T (n.559+2102C>T) c.799C>T (p.Leu267Phe) c.1066C>T (p.Leu356Phe) c.1024C>T (p.Leu342Phe) c.922C>T (p.Leu308Phe) c.886C>T (p.Leu296Phe) c.727C>T (p.Leu243Phe) | |
| 1 | g.173909762G>C | CA343774157 | SERPINC1 | c.943C>G (p.Leu315Val) n.594C>G c.559+2102C>G (n.559+2102C>G) c.799C>G (p.Leu267Val) c.1066C>G (p.Leu356Val) c.1024C>G (p.Leu342Val) c.922C>G (p.Leu308Val) c.886C>G (p.Leu296Val) c.727C>G (p.Leu243Val) |