Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.139562049A>C | CA414447567 | F9 | c.1364A>C (p.Lys455Thr) n.1723+308A>C c.1250A>C (p.Lys417Thr) c.1235A>C (p.Lys412Thr) | |
X | g.139562049A>G | CA414447569 | F9 | c.1364A>G (p.Lys455Arg) n.1723+308A>G c.1250A>G (p.Lys417Arg) c.1235A>G (p.Lys412Arg) | |
X | g.139562049A>T | CA414447572 | F9 | c.1364A>T (p.Lys455Met) n.1723+308A>T c.1250A>T (p.Lys417Met) c.1235A>T (p.Lys412Met) | |
X | g.139562050G>A | CA518864341 | F9 | c.1365G>A (p.Lys455=) n.1723+309G>A c.1251G>A (p.Lys417=) c.1236G>A (p.Lys412=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.139562050G>C | CA414447576 | F9 | c.1365G>C (p.Lys455Asn) n.1723+309G>C c.1251G>C (p.Lys417Asn) c.1236G>C (p.Lys412Asn) | |
X | g.139562050G= | CA2461412308 | F9 | c.1365G= (p.Lys455=) n.1723+309G= c.1251G= (p.Lys417=) c.1236G= (p.Lys412=) | |
X | g.139562050G>T | CA414447577 | F9 | c.1365G>T (p.Lys455Asn) n.1723+309G>T c.1251G>T (p.Lys417Asn) c.1236G>T (p.Lys412Asn) | |
X | g.139562051G>A | CA414447580 | F9 | c.1366G>A (p.Glu456Lys) n.1723+310G>A c.1252G>A (p.Glu418Lys) c.1237G>A (p.Glu413Lys) | dbSNP gnomAD v3 gnomAD v4 |
X | g.139562051G>C | CA414447583 | F9 | c.1366G>C (p.Glu456Gln) n.1723+310G>C c.1252G>C (p.Glu418Gln) c.1237G>C (p.Glu413Gln) | |
X | g.139562051G= | CA2461412310 | F9 | c.1366G= (p.Glu456=) n.1723+310G= c.1252G= (p.Glu418=) c.1237G= (p.Glu413=) | |
X | g.139562051G>T | CA414447585 | F9 | c.1366G>T (p.Glu456Ter) n.1723+310G>T c.1252G>T (p.Glu418Ter) c.1237G>T (p.Glu413Ter) | |
X | g.139562051_139562052delinsGA | CA2461412309 | F9 | c.1366_1367delinsGA (p.Glu456=) n.1723+310_1723+311delinsGA c.1252_1253delinsGA (p.Glu418=) c.1237_1238delinsGA (p.Glu413=) | |
X | g.139562051_139562053delinsCAT | CA915940962 | F9 | c.1366_1368delinsCAT (p.Glu456His) n.1723+310_1723+312delinsCAT c.1252_1254delinsCAT (p.Glu418His) c.1237_1239delinsCAT (p.Glu413His) | |
X | g.139562052A>C | CA414447590 | F9 | c.1367A>C (p.Glu456Ala) n.1723+311A>C c.1253A>C (p.Glu418Ala) c.1238A>C (p.Glu413Ala) | |
X | g.139562052A>G | CA414447593 | F9 | c.1367A>G (p.Glu456Gly) n.1723+311A>G c.1253A>G (p.Glu418Gly) c.1238A>G (p.Glu413Gly) | |
X | g.139562052A>T | CA414447588 | F9 | c.1367A>T (p.Glu456Val) n.1723+311A>T c.1253A>T (p.Glu418Val) c.1238A>T (p.Glu413Val) | |
X | g.139562057dup | CA645613294 | F9 | c.1372dup (p.Thr458AsnfsTer18) n.1723+316dup c.1258dup (p.Thr420AsnfsTer?) c.1258dup (p.Thr420AsnfsTer18) c.1243dup (p.Thr415AsnfsTer18) | dbSNP COSMIC |
X | g.139562057del | CA645613295 | F9 | c.1372del (p.Thr458GlnfsTer25) n.1723+316del c.1258del (p.Thr420GlnfsTer?) c.1258del (p.Thr420GlnfsTer25) c.1243del (p.Thr415GlnfsTer25) | dbSNP COSMIC |
X | g.139562053A>C | CA414447598 | F9 | c.1368A>C (p.Glu456Asp) n.1723+312A>C c.1254A>C (p.Glu418Asp) c.1239A>C (p.Glu413Asp) | |
X | g.139562053A>G | CA518864344 | F9 | c.1368A>G (p.Glu456=) n.1723+312A>G c.1254A>G (p.Glu418=) c.1239A>G (p.Glu413=) | |
X | g.139562053A>T | CA414447596 | F9 | c.1368A>T (p.Glu456Asp) n.1723+312A>T c.1254A>T (p.Glu418Asp) c.1239A>T (p.Glu413Asp) | |
X | g.139562054A= | CA2461412311 | F9 | c.1369A= (p.Lys457=) n.1723+313A= c.1255A= (p.Lys419=) c.1240A= (p.Lys414=) | |
X | g.139562054A>C | CA414447605 | F9 | c.1369A>C (p.Lys457Gln) n.1723+313A>C c.1255A>C (p.Lys419Gln) c.1240A>C (p.Lys414Gln) | |
X | g.139562054A>G | CA414447601 | F9 | c.1369A>G (p.Lys457Glu) n.1723+313A>G c.1255A>G (p.Lys419Glu) c.1240A>G (p.Lys414Glu) | gnomAD v4 |
X | g.139562054A>T | CA255424 | F9 | c.1369A>T (p.Lys457Ter) n.1723+313A>T c.1255A>T (p.Lys419Ter) c.1240A>T (p.Lys414Ter) | ClinVar dbSNP |
X | g.139562055A>C | CA414447608 | F9 | c.1370A>C (p.Lys457Thr) n.1723+314A>C c.1256A>C (p.Lys419Thr) c.1241A>C (p.Lys414Thr) | |
X | g.139562055A>G | CA414447610 | F9 | c.1370A>G (p.Lys457Arg) n.1723+314A>G c.1256A>G (p.Lys419Arg) c.1241A>G (p.Lys414Arg) | |
X | g.139562055A>T | CA414447613 | F9 | c.1370A>T (p.Lys457Ile) n.1723+314A>T c.1256A>T (p.Lys419Ile) c.1241A>T (p.Lys414Ile) | |
X | g.139562056A>C | CA414447616 | F9 | c.1371A>C (p.Lys457Asn) n.1723+315A>C c.1257A>C (p.Lys419Asn) c.1242A>C (p.Lys414Asn) | |
X | g.139562056A>G | CA518864347 | F9 | c.1371A>G (p.Lys457=) n.1723+315A>G c.1257A>G (p.Lys419=) c.1242A>G (p.Lys414=) | |
X | g.139562056A>T | CA414447617 | F9 | c.1371A>T (p.Lys457Asn) n.1723+315A>T c.1257A>T (p.Lys419Asn) c.1242A>T (p.Lys414Asn) | |
X | g.139562058_139562060del | CA2695236426 | F9 | c.1373_1375del (p.Thr458del) n.1723+317_1723+319del c.1259_1261del (p.Thr420del) c.1244_1246del (p.Thr415del) | |
X | g.139562057A>C | CA414447621 | F9 | c.1372A>C (p.Thr458Pro) n.1723+316A>C c.1258A>C (p.Thr420Pro) c.1243A>C (p.Thr415Pro) | |
X | g.139562057A>G | CA414447622 | F9 | c.1372A>G (p.Thr458Ala) n.1723+316A>G c.1258A>G (p.Thr420Ala) c.1243A>G (p.Thr415Ala) | |
X | g.139562057A>T | CA414447624 | F9 | c.1372A>T (p.Thr458Ser) n.1723+316A>T c.1258A>T (p.Thr420Ser) c.1243A>T (p.Thr415Ser) | |
X | g.139562058C>A | CA414447627 | F9 | c.1373C>A (p.Thr458Lys) n.1723+317C>A c.1259C>A (p.Thr420Lys) c.1244C>A (p.Thr415Lys) | |
X | g.139562058C>G | CA414447629 | F9 | c.1373C>G (p.Thr458Arg) n.1723+317C>G c.1259C>G (p.Thr420Arg) c.1244C>G (p.Thr415Arg) | |
X | g.139562058C>T | CA414447631 | F9 | c.1373C>T (p.Thr458Ile) n.1723+317C>T c.1259C>T (p.Thr420Ile) c.1244C>T (p.Thr415Ile) | gnomAD v4 |
X | g.139562059A>C | CA518864349 | F9 | c.1374A>C (p.Thr458=) n.1723+318A>C c.1260A>C (p.Thr420=) c.1245A>C (p.Thr415=) | |
X | g.139562059A>G | CA518864350 | F9 | c.1374A>G (p.Thr458=) n.1723+318A>G c.1260A>G (p.Thr420=) c.1245A>G (p.Thr415=) | |
X | g.139562059A>T | CA518864351 | F9 | c.1374A>T (p.Thr458=) n.1723+318A>T c.1260A>T (p.Thr420=) c.1245A>T (p.Thr415=) | |
X | g.139562061dup | CA2695236427 | F9 | c.1376dup (p.Leu460AlafsTer16) n.1723+320dup c.1262dup (p.Leu422AlafsTer?) c.1262dup (p.Leu422AlafsTer16) c.1247dup (p.Leu417AlafsTer16) | |
X | g.139562060A>C | CA414447638 | F9 | c.1375A>C (p.Lys459Gln) n.1723+319A>C c.1261A>C (p.Lys421Gln) c.1246A>C (p.Lys416Gln) | |
X | g.139562060A>G | CA414447634 | F9 | c.1375A>G (p.Lys459Glu) n.1723+319A>G c.1261A>G (p.Lys421Glu) c.1246A>G (p.Lys416Glu) | |
X | g.139562060A>T | CA414447636 | F9 | c.1375A>T (p.Lys459Ter) n.1723+319A>T c.1261A>T (p.Lys421Ter) c.1246A>T (p.Lys416Ter) | |
X | g.139562061A>C | CA414447642 | F9 | c.1376A>C (p.Lys459Thr) n.1723+320A>C c.1262A>C (p.Lys421Thr) c.1247A>C (p.Lys416Thr) | |
X | g.139562061A>G | CA414447644 | F9 | c.1376A>G (p.Lys459Arg) n.1723+320A>G c.1262A>G (p.Lys421Arg) c.1247A>G (p.Lys416Arg) | |
X | g.139562061A>T | CA414447647 | F9 | c.1376A>T (p.Lys459Met) n.1723+320A>T c.1262A>T (p.Lys421Met) c.1247A>T (p.Lys416Met) | |
X | g.139562062G>A | CA518864355 | F9 | c.1377G>A (p.Lys459=) n.1723+321G>A c.1263G>A (p.Lys421=) c.1248G>A (p.Lys416=) | ClinVar gnomAD v4 |
X | g.139562062G>C | CA414447650 | F9 | c.1377G>C (p.Lys459Asn) n.1723+321G>C c.1263G>C (p.Lys421Asn) c.1248G>C (p.Lys416Asn) |