Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6182117_6182123delinsTAATGTA | CA1607973420 | F13A1 | c.1324_1330delinsTACATTA (p.Tyr442=) c.1486_1492delinsTACATTA (p.Tyr496=) | |
6 | g.6182122_6182127del | CA3624369 | F13A1 | c.1324_1329del (p.Tyr442_Ile443del) c.1486_1491del (p.Tyr496_Ile497del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6182121G>A | CA3624370 | F13A1 | c.1326C>T (p.Tyr442=) c.1488C>T (p.Tyr496=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182121G>C | CA362737677 | F13A1 | c.1326C>G (p.Tyr442Ter) c.1488C>G (p.Tyr496Ter) | |
6 | g.6182121G= | CA1607973422 | F13A1 | c.1326C= (p.Tyr442=) c.1488C= (p.Tyr496=) | |
6 | g.6182121G>T | CA126618 | F13A1 | c.1326C>A (p.Tyr442Ter) c.1488C>A (p.Tyr496Ter) | ClinVar dbSNP gnomAD v4 |
6 | g.6182122T>A | CA362737679 | F13A1 | c.1325A>T (p.Tyr442Phe) c.1487A>T (p.Tyr496Phe) | |
6 | g.6182122T>C | CA362737681 | F13A1 | c.1325A>G (p.Tyr442Cys) c.1487A>G (p.Tyr496Cys) | |
6 | g.6182122T>G | CA362737682 | F13A1 | c.1325A>C (p.Tyr442Ser) c.1487A>C (p.Tyr496Ser) | |
6 | g.6182123A>C | CA362737684 | F13A1 | c.1324T>G (p.Tyr442Asp) c.1486T>G (p.Tyr496Asp) | |
6 | g.6182123A>G | CA362737685 | F13A1 | c.1324T>C (p.Tyr442His) c.1486T>C (p.Tyr496His) | |
6 | g.6182123A>T | CA362737687 | F13A1 | c.1324T>A (p.Tyr442Asn) c.1486T>A (p.Tyr496Asn) | |
6 | g.6182124A>C | CA362737688 | F13A1 | c.1323T>G (p.Ile441Met) c.1485T>G (p.Ile495Met) | |
6 | g.6182124A>G | CA448640548 | F13A1 | c.1323T>C (p.Ile441=) c.1485T>C (p.Ile495=) | |
6 | g.6182124A>T | CA448640549 | F13A1 | c.1323T>A (p.Ile441=) c.1485T>A (p.Ile495=) | |
6 | g.6182125A>C | CA362737690 | F13A1 | c.1322T>G (p.Ile441Ser) c.1484T>G (p.Ile495Ser) | |
6 | g.6182125A>G | CA362737691 | F13A1 | c.1322T>C (p.Ile441Thr) c.1484T>C (p.Ile495Thr) | gnomAD v4 |
6 | g.6182125A>T | CA362737693 | F13A1 | c.1322T>A (p.Ile441Asn) c.1484T>A (p.Ile495Asn) | |
6 | g.6182126T>A | CA362737695 | F13A1 | c.1321A>T (p.Ile441Phe) c.1483A>T (p.Ile495Phe) | |
6 | g.6182126T>C | CA362737697 | F13A1 | c.1321A>G (p.Ile441Val) c.1483A>G (p.Ile495Val) | |
6 | g.6182126T>G | CA362737698 | F13A1 | c.1321A>C (p.Ile441Leu) c.1483A>C (p.Ile495Leu) | |
6 | g.6182127G>A | CA448640550 | F13A1 | c.1320C>T (p.Leu440=) c.1482C>T (p.Leu494=) | |
6 | g.6182127G>C | CA448640551 | F13A1 | c.1320C>G (p.Leu440=) c.1482C>G (p.Leu494=) | |
6 | g.6182127G>T | CA448640552 | F13A1 | c.1320C>A (p.Leu440=) c.1482C>A (p.Leu494=) | |
6 | g.6182128A>C | CA362737700 | F13A1 | c.1319T>G (p.Leu440Arg) c.1481T>G (p.Leu494Arg) | |
6 | g.6182128A>G | CA362737702 | F13A1 | c.1319T>C (p.Leu440Pro) c.1481T>C (p.Leu494Pro) | |
6 | g.6182128A>T | CA362737699 | F13A1 | c.1319T>A (p.Leu440His) c.1481T>A (p.Leu494His) | COSMIC |
6 | g.6182129G>A | CA362737704 | F13A1 | c.1318C>T (p.Leu440Phe) c.1480C>T (p.Leu494Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6182129G>C | CA362737706 | F13A1 | c.1318C>G (p.Leu440Val) c.1480C>G (p.Leu494Val) | |
6 | g.6182129G= | CA1607973423 | F13A1 | c.1318C= (p.Leu440=) c.1480C= (p.Leu494=) | |
6 | g.6182129G>T | CA362737707 | F13A1 | c.1318C>A (p.Leu440Ile) c.1480C>A (p.Leu494Ile) | |
6 | g.6182130G>A | CA448640553 | F13A1 | c.1317C>T (p.Asp439=) c.1479C>T (p.Asp493=) | dbSNP gnomAD v4 |
6 | g.6182130G>C | CA362737708 | F13A1 | c.1317C>G (p.Asp439Glu) c.1479C>G (p.Asp493Glu) | |
6 | g.6182130G= | CA1607973424 | F13A1 | c.1317C= (p.Asp439=) c.1479C= (p.Asp493=) | |
6 | g.6182130G>T | CA362737710 | F13A1 | c.1317C>A (p.Asp439Glu) c.1479C>A (p.Asp493Glu) | |
6 | g.6182131T>A | CA362737715 | F13A1 | c.1316A>T (p.Asp439Val) c.1478A>T (p.Asp493Val) | |
6 | g.6182131T>C | CA362737713 | F13A1 | c.1316A>G (p.Asp439Gly) c.1478A>G (p.Asp493Gly) | |
6 | g.6182131T>G | CA362737712 | F13A1 | c.1316A>C (p.Asp439Ala) c.1478A>C (p.Asp493Ala) | |
6 | g.6182132C>A | CA362737716 | F13A1 | c.1315G>T (p.Asp439Tyr) c.1477G>T (p.Asp493Tyr) | |
6 | g.6182132C= | CA1607973425 | F13A1 | c.1315G= (p.Asp439=) c.1477G= (p.Asp493=) | |
6 | g.6182132C>G | CA362737718 | F13A1 | c.1315G>C (p.Asp439His) c.1477G>C (p.Asp493His) | |
6 | g.6182132C>T | CA3624371 | F13A1 | c.1315G>A (p.Asp439Asn) c.1477G>A (p.Asp493Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6182133G>A | CA3624372 | F13A1 | c.1314C>T (p.Ser438=) c.1476C>T (p.Ser492=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6182133G>C | CA362737720 | F13A1 | c.1314C>G (p.Ser438Arg) c.1476C>G (p.Ser492Arg) | gnomAD v4 |
6 | g.6182133G= | CA1607973426 | F13A1 | c.1314C= (p.Ser438=) c.1476C= (p.Ser492=) | |
6 | g.6182133G>T | CA362737721 | F13A1 | c.1314C>A (p.Ser438Arg) c.1476C>A (p.Ser492Arg) | |
6 | g.6182134C>A | CA362737722 | F13A1 | c.1313G>T (p.Ser438Ile) c.1475G>T (p.Ser492Ile) | |
6 | g.6182134C>G | CA362737725 | F13A1 | c.1313G>C (p.Ser438Thr) c.1475G>C (p.Ser492Thr) | |
6 | g.6182134C>T | CA362737723 | F13A1 | c.1313G>A (p.Ser438Asn) c.1475G>A (p.Ser492Asn) | |
6 | g.6182135T>A | CA362737726 | F13A1 | c.1312A>T (p.Ser438Cys) c.1474A>T (p.Ser492Cys) |