| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.139562042T>A | CA414447520 | F9 | c.1357T>A (p.Trp453Arg) n.1723+301T>A c.1243T>A (p.Trp415Arg) c.1228T>A (p.Trp410Arg) | |
| X | g.139562042T>C | CA255422 | F9 | c.1357T>C (p.Trp453Arg) n.1723+301T>C c.1243T>C (p.Trp415Arg) c.1228T>C (p.Trp410Arg) | ClinVar dbSNP |
| X | g.139562042T>G | CA414447523 | F9 | c.1357T>G (p.Trp453Gly) n.1723+301T>G c.1243T>G (p.Trp415Gly) c.1228T>G (p.Trp410Gly) | |
| X | g.139562042T= | CA2461412305 | F9 | c.1357T= (p.Trp453=) n.1723+301T= c.1243T= (p.Trp415=) c.1228T= (p.Trp410=) | |
| X | g.139562043G>A | CA414447531 | F9 | c.1358G>A (p.Trp453Ter) n.1723+302G>A c.1244G>A (p.Trp415Ter) c.1229G>A (p.Trp410Ter) | ClinVar dbSNP |
| X | g.139562043G>C | CA414447528 | F9 | c.1358G>C (p.Trp453Ser) n.1723+302G>C c.1244G>C (p.Trp415Ser) c.1229G>C (p.Trp410Ser) | |
| X | g.139562043G>T | CA414447526 | F9 | c.1358G>T (p.Trp453Leu) n.1723+302G>T c.1244G>T (p.Trp415Leu) c.1229G>T (p.Trp410Leu) | |
| X | g.139562044del | CA2695236423 | F9 | c.1359del (p.Trp453Ter) n.1723+303del c.1245del (p.Trp415Ter) c.1230del (p.Trp410Ter) | |
| X | g.139562044G>A | CA414447533 | F9 | c.1359G>A (p.Trp453Ter) n.1723+303G>A c.1245G>A (p.Trp415Ter) c.1230G>A (p.Trp410Ter) | dbSNP |
| X | g.139562044G>C | CA414447535 | F9 | c.1359G>C (p.Trp453Cys) n.1723+303G>C c.1245G>C (p.Trp415Cys) c.1230G>C (p.Trp410Cys) | |
| X | g.139562044G= | CA2461412306 | F9 | c.1359G= (p.Trp453=) n.1723+303G= c.1245G= (p.Trp415=) c.1230G= (p.Trp410=) | |
| X | g.139562044G>T | CA414447537 | F9 | c.1359G>T (p.Trp453Cys) n.1723+303G>T c.1245G>T (p.Trp415Cys) c.1230G>T (p.Trp410Cys) | |
| X | g.139562044_139562047dup | CA2695236424 | F9 | c.1359_1362dup (p.Lys455AspfsTer2) n.1723+303_1723+306dup c.1245_1248dup (p.Lys417AspfsTer2) c.1230_1233dup (p.Lys412AspfsTer2) | |
| X | g.139562045A>C | CA414447541 | F9 | c.1360A>C (p.Ile454Leu) n.1723+304A>C c.1246A>C (p.Ile416Leu) c.1231A>C (p.Ile411Leu) | |
| X | g.139562045A>G | CA414447542 | F9 | c.1360A>G (p.Ile454Val) n.1723+304A>G c.1246A>G (p.Ile416Val) c.1231A>G (p.Ile411Val) | |
| X | g.139562045A>T | CA414447545 | F9 | c.1360A>T (p.Ile454Phe) n.1723+304A>T c.1246A>T (p.Ile416Phe) c.1231A>T (p.Ile411Phe) | |
| X | g.139562046T>A | CA414447548 | F9 | c.1361T>A (p.Ile454Asn) n.1723+305T>A c.1247T>A (p.Ile416Asn) c.1232T>A (p.Ile411Asn) | |
| X | g.139562046T>C | CA414447553 | F9 | c.1361T>C (p.Ile454Thr) n.1723+305T>C c.1247T>C (p.Ile416Thr) c.1232T>C (p.Ile411Thr) | ClinVar dbSNP |
| X | g.139562046T>G | CA414447551 | F9 | c.1361T>G (p.Ile454Ser) n.1723+305T>G c.1247T>G (p.Ile416Ser) c.1232T>G (p.Ile411Ser) | |
| X | g.139562046T= | CA2461412307 | F9 | c.1361T= (p.Ile454=) n.1723+305T= c.1247T= (p.Ile416=) c.1232T= (p.Ile411=) | |
| X | g.139562047del | CA2695236425 | F9 | c.1362del (p.Lys455ArgfsTer28) n.1723+306del c.1248del (p.Lys417ArgfsTer?) c.1248del (p.Lys417ArgfsTer28) c.1233del (p.Lys412ArgfsTer28) | |
| X | g.139562047T>A | CA518864338 | F9 | c.1362T>A (p.Ile454=) n.1723+306T>A c.1248T>A (p.Ile416=) c.1233T>A (p.Ile411=) | |
| X | g.139562047T>C | CA518864339 | F9 | c.1362T>C (p.Ile454=) n.1723+306T>C c.1248T>C (p.Ile416=) c.1233T>C (p.Ile411=) | |
| X | g.139562047T>G | CA414447555 | F9 | c.1362T>G (p.Ile454Met) n.1723+306T>G c.1248T>G (p.Ile416Met) c.1233T>G (p.Ile411Met) | |
| X | g.139562048A>C | CA414447559 | F9 | c.1363A>C (p.Lys455Gln) n.1723+307A>C c.1249A>C (p.Lys417Gln) c.1234A>C (p.Lys412Gln) | |
| X | g.139562048A>G | CA414447561 | F9 | c.1363A>G (p.Lys455Glu) n.1723+307A>G c.1249A>G (p.Lys417Glu) c.1234A>G (p.Lys412Glu) | |
| X | g.139562048A>T | CA414447565 | F9 | c.1363A>T (p.Lys455Ter) n.1723+307A>T c.1249A>T (p.Lys417Ter) c.1234A>T (p.Lys412Ter) | |
| 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) |