Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.6224786dup | CA2695205939 | F13A1 | c.874dup (p.Ala292GlyfsTer7) c.24dup c.1036dup (p.Ala346GlyfsTer7) | |
6 | g.6224786C>A | CA448645850 | F13A1 | c.873G>T (p.Ser291=) c.23G>T c.1035G>T (p.Ser345=) | |
6 | g.6224786C= | CA1607987865 | F13A1 | c.873G= (p.Ser291=) c.23G= c.1035G= (p.Ser345=) | |
6 | g.6224786C>G | CA448645851 | F13A1 | c.873G>C (p.Ser291=) c.23G>C c.1035G>C (p.Ser345=) | gnomAD v4 |
6 | g.6224786C>T | CA3624522 | F13A1 | c.873G>A (p.Ser291=) c.23G>A c.1035G>A (p.Ser345=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224787G>A | CA362740072 | F13A1 | c.872C>T (p.Ser291Leu) c.22C>T c.1034C>T (p.Ser345Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224787G>C | CA362740071 | F13A1 | c.872C>G (p.Ser291Trp) c.22C>G c.1034C>G (p.Ser345Trp) | ClinVar |
6 | g.6224787G= | CA1607987866 | F13A1 | c.872C= (p.Ser291=) c.22C= c.1034C= (p.Ser345=) | |
6 | g.6224787G>T | CA362740070 | F13A1 | c.872C>A (p.Ser291Ter) c.22C>A c.1034C>A (p.Ser345Ter) | |
6 | g.6224788A>C | CA362740075 | F13A1 | c.871T>G (p.Ser291Ala) c.21T>G c.1033T>G (p.Ser345Ala) | |
6 | g.6224788A>G | CA362740073 | F13A1 | c.871T>C (p.Ser291Pro) c.21T>C c.1033T>C (p.Ser345Pro) | |
6 | g.6224788A>T | CA362740074 | F13A1 | c.871T>A (p.Ser291Thr) c.21T>A c.1033T>A (p.Ser345Thr) | |
6 | g.6224789T>A | CA448645852 | F13A1 | c.870A>T (p.Pro290=) c.20A>T c.1032A>T (p.Pro344=) | |
6 | g.6224789T>C | CA448645853 | F13A1 | c.870A>G (p.Pro290=) c.20A>G c.1032A>G (p.Pro344=) | |
6 | g.6224789T>G | CA448645854 | F13A1 | c.870A>C (p.Pro290=) c.20A>C c.1032A>C (p.Pro344=) | |
6 | g.6224790G>A | CA362740076 | F13A1 | c.869C>T (p.Pro290Leu) c.19C>T c.1031C>T (p.Pro344Leu) | gnomAD v4 COSMIC |
6 | g.6224790G>C | CA362740077 | F13A1 | c.869C>G (p.Pro290Arg) c.19C>G c.1031C>G (p.Pro344Arg) | gnomAD v4 |
6 | g.6224790G= | CA1607987867 | F13A1 | c.869C= (p.Pro290=) c.19C= c.1031C= (p.Pro344=) | |
6 | g.6224790G>T | CA3624523 | F13A1 | c.869C>A (p.Pro290Gln) c.19C>A c.1031C>A (p.Pro344Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224795dup | CA2695205940 | F13A1 | c.869dup (p.Ser291IlefsTer8) c.19dup c.1031dup (p.Ser345IlefsTer8) | |
6 | g.6224795del | CA448645855 | F13A1 | c.869del (p.Pro290HisfsTer?) c.19del c.1031del (p.Pro344HisfsTer?) | COSMIC |
6 | g.6224791G>A | CA362740078 | F13A1 | c.868C>T (p.Pro290Ser) c.18C>T c.1030C>T (p.Pro344Ser) | |
6 | g.6224791G>C | CA3624524 | F13A1 | c.868C>G (p.Pro290Ala) c.18C>G c.1030C>G (p.Pro344Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224791G= | CA1607987868 | F13A1 | c.868C= (p.Pro290=) c.18C= c.1030C= (p.Pro344=) | |
6 | g.6224791G>T | CA362740079 | F13A1 | c.868C>A (p.Pro290Thr) c.18C>A c.1030C>A (p.Pro344Thr) | |
6 | g.6224792G>A | CA448645856 | F13A1 | c.867C>T (p.Pro289=) c.17C>T c.1029C>T (p.Pro343=) | gnomAD v4 |
6 | g.6224792G>C | CA448645857 | F13A1 | c.867C>G (p.Pro289=) c.17C>G c.1029C>G (p.Pro343=) | gnomAD v4 |
6 | g.6224792G>T | CA448645858 | F13A1 | c.867C>A (p.Pro289=) c.17C>A c.1029C>A (p.Pro343=) | |
6 | g.6224793G>A | CA362740080 | F13A1 | c.866C>T (p.Pro289Leu) c.16C>T c.1028C>T (p.Pro343Leu) | |
6 | g.6224793G>C | CA3624525 | F13A1 | c.866C>G (p.Pro289Arg) c.16C>G c.1028C>G (p.Pro343Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224793G= | CA1607987869 | F13A1 | c.866C= (p.Pro289=) c.16C= c.1028C= (p.Pro343=) | |
6 | g.6224793G>T | CA362740081 | F13A1 | c.866C>A (p.Pro289His) c.16C>A c.1028C>A (p.Pro343His) | gnomAD v4 |
6 | g.6224794G>A | CA362740082 | F13A1 | c.865C>T (p.Pro289Ser) c.15C>T c.1027C>T (p.Pro343Ser) | |
6 | g.6224794G>C | CA362740083 | F13A1 | c.865C>G (p.Pro289Ala) c.15C>G c.1027C>G (p.Pro343Ala) | |
6 | g.6224794G= | CA1607987870 | F13A1 | c.865C= (p.Pro289=) c.15C= c.1027C= (p.Pro343=) | |
6 | g.6224794G>T | CA3624526 | F13A1 | c.865C>A (p.Pro289Thr) c.15C>A c.1027C>A (p.Pro343Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224795G>A | CA3624527 | F13A1 | c.864C>T (p.Val288=) c.14C>T c.1026C>T (p.Val342=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224795G>C | CA448645859 | F13A1 | c.864C>G (p.Val288=) c.14C>G c.1026C>G (p.Val342=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224795G= | CA1607987871 | F13A1 | c.864C= (p.Val288=) c.14C= c.1026C= (p.Val342=) | |
6 | g.6224795G>T | CA448645860 | F13A1 | c.864C>A (p.Val288=) c.14C>A c.1026C>A (p.Val342=) | |
6 | g.6224796A>C | CA362740084 | F13A1 | c.863T>G (p.Val288Gly) c.13T>G c.1025T>G (p.Val342Gly) | |
6 | g.6224796A>G | CA362740085 | F13A1 | c.863T>C (p.Val288Ala) c.13T>C c.1025T>C (p.Val342Ala) | |
6 | g.6224796A>T | CA362740086 | F13A1 | c.863T>A (p.Val288Asp) c.13T>A c.1025T>A (p.Val342Asp) | COSMIC |
6 | g.6224797C>A | CA362740087 | F13A1 | c.862G>T (p.Val288Phe) c.12G>T c.1024G>T (p.Val342Phe) | |
6 | g.6224797C= | CA1607987872 | F13A1 | c.862G= (p.Val288=) c.12G= c.1024G= (p.Val342=) | |
6 | g.6224797C>G | CA362740088 | F13A1 | c.862G>C (p.Val288Leu) c.12G>C c.1024G>C (p.Val342Leu) | |
6 | g.6224797C>T | CA3624528 | F13A1 | c.862G>A (p.Val288Ile) c.12G>A c.1024G>A (p.Val342Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224798G>A | CA3624529 | F13A1 | c.861C>T (p.Gly287=) c.11C>T c.1023C>T (p.Gly341=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224798G>C | CA448645862 | F13A1 | c.861C>G (p.Gly287=) c.11C>G c.1023C>G (p.Gly341=) | COSMIC |
6 | g.6224798G= | CA1607987873 | F13A1 | c.861C= (p.Gly287=) c.11C= c.1023C= (p.Gly341=) | |
6 | g.6224798G>T | CA448645861 | F13A1 | c.861C>A (p.Gly287=) c.11C>A c.1023C>A (p.Gly341=) | |
6 | g.6224799C>A | CA362740089 | F13A1 | c.860G>T (p.Gly287Val) c.10G>T c.1022G>T (p.Gly341Val) | |
6 | g.6224799C= | CA1607987874 | F13A1 | c.860G= (p.Gly287=) c.10G= c.1022G= (p.Gly341=) | |
6 | g.6224799C>G | CA362740090 | F13A1 | c.860G>C (p.Gly287Ala) c.10G>C c.1022G>C (p.Gly341Ala) | |
6 | g.6224799C>T | CA134391472 | F13A1 | c.860G>A (p.Gly287Asp) c.10G>A c.1022G>A (p.Gly341Asp) | dbSNP |
6 | g.6224800_6224801insCCC | CA2695205941 | F13A1 | c.860_861insGGG (p.Gly287_Val288insGly) c.10_11insGGG c.1022_1023insGGG (p.Gly341_Val342insGly) | |
6 | g.6224800C>A | CA362740091 | F13A1 | c.859G>T (p.Gly287Cys) c.9G>T c.1021G>T (p.Gly341Cys) | |
6 | g.6224800C>G | CA362740092 | F13A1 | c.859G>C (p.Gly287Arg) c.9G>C c.1021G>C (p.Gly341Arg) | |
6 | g.6224800C>T | CA362740093 | F13A1 | c.859G>A (p.Gly287Ser) c.9G>A c.1021G>A (p.Gly341Ser) | |
6 | g.6224801A= | CA1607987875 | F13A1 | c.858T= (p.Tyr286=) c.8T= c.1020T= (p.Tyr340=) | |
6 | g.6224801A>C | CA362740095 | F13A1 | c.858T>G (p.Tyr286Ter) c.8T>G c.1020T>G (p.Tyr340Ter) | |
6 | g.6224801A>G | CA134391473 | F13A1 | c.858T>C (p.Tyr286=) c.8T>C c.1020T>C (p.Tyr340=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224801A>T | CA362740094 | F13A1 | c.858T>A (p.Tyr286Ter) c.8T>A c.1020T>A (p.Tyr340Ter) | COSMIC |
6 | g.6224802T>A | CA362740096 | F13A1 | c.857A>T (p.Tyr286Phe) c.7A>T c.1019A>T (p.Tyr340Phe) | |
6 | g.6224802T>C | CA3624530 | F13A1 | c.857A>G (p.Tyr286Cys) c.7A>G c.1019A>G (p.Tyr340Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224802T>G | CA362740097 | F13A1 | c.857A>C (p.Tyr286Ser) c.7A>C c.1019A>C (p.Tyr340Ser) | |
6 | g.6224802T= | CA1607987876 | F13A1 | c.857A= (p.Tyr286=) c.7A= c.1019A= (p.Tyr340=) | |
6 | g.6224803A>C | CA362740098 | F13A1 | c.856T>G (p.Tyr286Asp) c.6T>G c.1018T>G (p.Tyr340Asp) | |
6 | g.6224803A>G | CA362740099 | F13A1 | c.856T>C (p.Tyr286His) c.6T>C c.1018T>C (p.Tyr340His) | COSMIC |
6 | g.6224803A>T | CA362740100 | F13A1 | c.856T>A (p.Tyr286Asn) c.6T>A c.1018T>A (p.Tyr340Asn) | |
6 | g.6224804G>A | CA3624531 | F13A1 | c.855C>T (p.Ala285=) c.5C>T c.1017C>T (p.Ala339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224804G>C | CA448645864 | F13A1 | c.855C>G (p.Ala285=) c.5C>G c.1017C>G (p.Ala339=) | |
6 | g.6224804G= | CA1607987877 | F13A1 | c.855C= (p.Ala285=) c.5C= c.1017C= (p.Ala339=) | |
6 | g.6224804G>T | CA448645863 | F13A1 | c.855C>A (p.Ala285=) c.5C>A c.1017C>A (p.Ala339=) | |
6 | g.6224805G>A | CA362740103 | F13A1 | c.854C>T (p.Ala285Val) c.4C>T c.1016C>T (p.Ala339Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224805G>C | CA362740101 | F13A1 | c.854C>G (p.Ala285Gly) c.4C>G c.1016C>G (p.Ala339Gly) | |
6 | g.6224805G= | CA1607987878 | F13A1 | c.854C= (p.Ala285=) c.4C= c.1016C= (p.Ala339=) | |
6 | g.6224805G>T | CA362740102 | F13A1 | c.854C>A (p.Ala285Asp) c.4C>A c.1016C>A (p.Ala339Asp) | |
6 | g.6224806C>A | CA362740104 | F13A1 | c.853G>T (p.Ala285Ser) c.3G>T c.1015G>T (p.Ala339Ser) | |
6 | g.6224806C>G | CA362740105 | F13A1 | c.853G>C (p.Ala285Pro) c.3G>C c.1015G>C (p.Ala339Pro) | |
6 | g.6224806C>T | CA362740106 | F13A1 | c.853G>A (p.Ala285Thr) c.3G>A c.1015G>A (p.Ala339Thr) | |
6 | g.6224807A>C | CA362740107 | F13A1 | c.852T>G (p.Tyr284Ter) c.2T>G c.1014T>G (p.Tyr338Ter) | |
6 | g.6224807A>G | CA448645865 | F13A1 | c.852T>C (p.Tyr284=) c.2T>C c.1014T>C (p.Tyr338=) | |
6 | g.6224807A>T | CA362740108 | F13A1 | c.852T>A (p.Tyr284Ter) c.2T>A c.1014T>A (p.Tyr338Ter) | |
6 | g.6224808T>A | CA362740109 | F13A1 | c.851A>T (p.Tyr284Phe) c.1A>T c.1013A>T (p.Tyr338Phe) | |
6 | g.6224808T>C | CA126645 | F13A1 | c.851A>G (p.Tyr284Cys) c.1A>G c.1013A>G (p.Tyr338Cys) | ClinVar dbSNP |
6 | g.6224808T>G | CA362740110 | F13A1 | c.851A>C (p.Tyr284Ser) c.1A>C c.1013A>C (p.Tyr338Ser) | |
6 | g.6224808T= | CA1607987879 | F13A1 | c.851A= (p.Tyr284=) c.1A= c.1013A= (p.Tyr338=) | |
6 | g.6224809A>C | CA362740111 | F13A1 | c.850T>G (p.Tyr284Asp) c.1012T>G (p.Tyr338Asp) | |
6 | g.6224809A>G | CA362740112 | F13A1 | c.850T>C (p.Tyr284His) c.1012T>C (p.Tyr338His) | |
6 | g.6224809A>T | CA362740113 | F13A1 | c.850T>A (p.Tyr284Asn) c.1012T>A (p.Tyr338Asn) | |
6 | g.6224810G>A | CA448645866 | F13A1 | c.849C>T (p.Ile283=) c.1011C>T (p.Ile337=) | gnomAD v4 |
6 | g.6224810G>C | CA362740114 | F13A1 | c.849C>G (p.Ile283Met) c.1011C>G (p.Ile337Met) | |
6 | g.6224810G>T | CA448645867 | F13A1 | c.849C>A (p.Ile283=) c.1011C>A (p.Ile337=) | |
6 | g.6224811A= | CA1607987880 | F13A1 | c.848T= (p.Ile283=) c.1010T= (p.Ile337=) | |
6 | g.6224811A>C | CA362740115 | F13A1 | c.848T>G (p.Ile283Ser) c.1010T>G (p.Ile337Ser) | gnomAD v4 |
6 | g.6224811A>G | CA362740116 | F13A1 | c.848T>C (p.Ile283Thr) c.1010T>C (p.Ile337Thr) | dbSNP |
6 | g.6224811A>T | CA362740117 | F13A1 | c.848T>A (p.Ile283Asn) c.1010T>A (p.Ile337Asn) | gnomAD v4 |
6 | g.6224812T>A | CA362740118 | F13A1 | c.847A>T (p.Ile283Phe) c.1009A>T (p.Ile337Phe) | |
6 | g.6224812T>C | CA362740119 | F13A1 | c.847A>G (p.Ile283Val) c.1009A>G (p.Ile337Val) | gnomAD v4 |
6 | g.6224812T>G | CA362740120 | F13A1 | c.847A>C (p.Ile283Leu) c.1009A>C (p.Ile337Leu) | |
6 | g.6224813A= | CA1607987881 | F13A1 | c.846T= (p.Asn282=) c.1008T= (p.Asn336=) | |
6 | g.6224813A>C | CA362740121 | F13A1 | c.846T>G (p.Asn282Lys) c.1008T>G (p.Asn336Lys) | |
6 | g.6224813A>G | CA134391474 | F13A1 | c.846T>C (p.Asn282=) c.1008T>C (p.Asn336=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224813A>T | CA362740122 | F13A1 | c.846T>A (p.Asn282Lys) c.1008T>A (p.Asn336Lys) | |
6 | g.6224814T>A | CA362740125 | F13A1 | c.845A>T (p.Asn282Ile) c.1007A>T (p.Asn336Ile) | |
6 | g.6224814T>C | CA362740123 | F13A1 | c.845A>G (p.Asn282Ser) c.1007A>G (p.Asn336Ser) | gnomAD v4 |
6 | g.6224814T>G | CA362740124 | F13A1 | c.845A>C (p.Asn282Thr) c.1007A>C (p.Asn336Thr) | |
6 | g.6224815T>A | CA362740126 | F13A1 | c.844A>T (p.Asn282Tyr) c.1006A>T (p.Asn336Tyr) | |
6 | g.6224815T>C | CA3624532 | F13A1 | c.844A>G (p.Asn282Asp) c.1006A>G (p.Asn336Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224815T>G | CA362740127 | F13A1 | c.844A>C (p.Asn282His) c.1006A>C (p.Asn336His) | |
6 | g.6224815T= | CA1607987882 | F13A1 | c.844A= (p.Asn282=) c.1006A= (p.Asn336=) | |
6 | g.6224816G>A | CA134391475 | F13A1 | c.843C>T (p.Asp281=) c.1005C>T (p.Asp335=) | dbSNP gnomAD v4 |
6 | g.6224816G>C | CA362740128 | F13A1 | c.843C>G (p.Asp281Glu) c.1005C>G (p.Asp335Glu) | |
6 | g.6224816G= | CA1607987883 | F13A1 | c.843C= (p.Asp281=) c.1005C= (p.Asp335=) | |
6 | g.6224816G>T | CA362740129 | F13A1 | c.843C>A (p.Asp281Glu) c.1005C>A (p.Asp335Glu) | gnomAD v4 |
6 | g.6224817T>A | CA362740132 | F13A1 | c.842A>T (p.Asp281Val) c.1004A>T (p.Asp335Val) | |
6 | g.6224817T>C | CA362740131 | F13A1 | c.842A>G (p.Asp281Gly) c.1004A>G (p.Asp335Gly) | |
6 | g.6224817T>G | CA362740130 | F13A1 | c.842A>C (p.Asp281Ala) c.1004A>C (p.Asp335Ala) | |
6 | g.6224818C>A | CA362740133 | F13A1 | c.841G>T (p.Asp281Tyr) c.1003G>T (p.Asp335Tyr) | |
6 | g.6224818C>G | CA362740134 | F13A1 | c.841G>C (p.Asp281His) c.1003G>C (p.Asp335His) | |
6 | g.6224818C>T | CA362740135 | F13A1 | c.841G>A (p.Asp281Asn) c.1003G>A (p.Asp335Asn) | gnomAD v4 |
6 | g.6224819C>A | CA362740136 | F13A1 | c.840G>T (p.Trp280Cys) c.1002G>T (p.Trp334Cys) | |
6 | g.6224819C>G | CA362740137 | F13A1 | c.840G>C (p.Trp280Cys) c.1002G>C (p.Trp334Cys) | |
6 | g.6224819C>T | CA362740138 | F13A1 | c.840G>A (p.Trp280Ter) c.1002G>A (p.Trp334Ter) | COSMIC |
6 | g.6224820C>A | CA362740141 | F13A1 | c.839G>T (p.Trp280Leu) c.1001G>T (p.Trp334Leu) | |
6 | g.6224820C>G | CA362740139 | F13A1 | c.839G>C (p.Trp280Ser) c.1001G>C (p.Trp334Ser) | COSMIC |
6 | g.6224820C>T | CA362740140 | F13A1 | c.839G>A (p.Trp280Ter) c.1001G>A (p.Trp334Ter) | |
6 | g.6224821A>C | CA362740142 | F13A1 | c.838T>G (p.Trp280Gly) c.1000T>G (p.Trp334Gly) | |
6 | g.6224821A>G | CA362740143 | F13A1 | c.838T>C (p.Trp280Arg) c.1000T>C (p.Trp334Arg) | |
6 | g.6224821A>T | CA362740144 | F13A1 | c.838T>A (p.Trp280Arg) c.1000T>A (p.Trp334Arg) | |
6 | g.6224822G>A | CA448645868 | F13A1 | c.837C>T (p.Ser279=) c.999C>T (p.Ser333=) | |
6 | g.6224822G>C | CA448645870 | F13A1 | c.837C>G (p.Ser279=) c.999C>G (p.Ser333=) | |
6 | g.6224822G>T | CA448645869 | F13A1 | c.837C>A (p.Ser279=) c.999C>A (p.Ser333=) | |
6 | g.6224823G>A | CA362740145 | F13A1 | c.836C>T (p.Ser279Phe) c.998C>T (p.Ser333Phe) | |
6 | g.6224823G>C | CA362740146 | F13A1 | c.836C>G (p.Ser279Cys) c.998C>G (p.Ser333Cys) | gnomAD v4 |
6 | g.6224823G>T | CA362740147 | F13A1 | c.836C>A (p.Ser279Tyr) c.998C>A (p.Ser333Tyr) | |
6 | g.6224824A>C | CA362740148 | F13A1 | c.835T>G (p.Ser279Ala) c.997T>G (p.Ser333Ala) | |
6 | g.6224824A>G | CA362740149 | F13A1 | c.835T>C (p.Ser279Pro) c.997T>C (p.Ser333Pro) | |
6 | g.6224824A>T | CA362740150 | F13A1 | c.835T>A (p.Ser279Thr) c.997T>A (p.Ser333Thr) | gnomAD v4 |
6 | g.6224825T>A | CA448645871 | F13A1 | c.834A>T (p.Gly278=) c.996A>T (p.Gly332=) | |
6 | g.6224825T>C | CA448645872 | F13A1 | c.834A>G (p.Gly278=) c.996A>G (p.Gly332=) | |
6 | g.6224825T>G | CA448645873 | F13A1 | c.834A>C (p.Gly278=) c.996A>C (p.Gly332=) | |
6 | g.6224826C>A | CA362740151 | F13A1 | c.833G>T (p.Gly278Val) c.995G>T (p.Gly332Val) | |
6 | g.6224826C>G | CA362740152 | F13A1 | c.833G>C (p.Gly278Ala) c.995G>C (p.Gly332Ala) | gnomAD v4 |
6 | g.6224826C>T | CA362740153 | F13A1 | c.833G>A (p.Gly278Glu) c.995G>A (p.Gly332Glu) | |
6 | g.6224827C>A | CA362740154 | F13A1 | c.832G>T (p.Gly278Ter) c.994G>T (p.Gly332Ter) | |
6 | g.6224827C>G | CA362740156 | F13A1 | c.832G>C (p.Gly278Arg) c.994G>C (p.Gly332Arg) | |
6 | g.6224827C>T | CA362740155 | F13A1 | c.832G>A (p.Gly278Arg) c.994G>A (p.Gly332Arg) | |
6 | g.6224828A= | CA1607987884 | F13A1 | c.831T= (p.Val277=) c.993T= (p.Val331=) | |
6 | g.6224828A>C | CA448645874 | F13A1 | c.831T>G (p.Val277=) c.993T>G (p.Val331=) | |
6 | g.6224828A>G | CA3624533 | F13A1 | c.831T>C (p.Val277=) c.993T>C (p.Val331=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224828A>T | CA448645875 | F13A1 | c.831T>A (p.Val277=) c.993T>A (p.Val331=) | |
6 | g.6224829A= | CA1607987885 | F13A1 | c.830T= (p.Val277=) c.992T= (p.Val331=) | |
6 | g.6224829A>C | CA362740159 | F13A1 | c.830T>G (p.Val277Gly) c.992T>G (p.Val331Gly) | |
6 | g.6224829A>G | CA362740157 | F13A1 | c.830T>C (p.Val277Ala) c.992T>C (p.Val331Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224829A>T | CA362740158 | F13A1 | c.830T>A (p.Val277Asp) c.992T>A (p.Val331Asp) | |
6 | g.6224830C>A | CA362740160 | F13A1 | c.829G>T (p.Val277Phe) c.991G>T (p.Val331Phe) | dbSNP gnomAD v4 |
6 | g.6224830C= | CA1607987886 | F13A1 | c.829G= (p.Val277=) c.991G= (p.Val331=) | |
6 | g.6224830C>G | CA134391476 | F13A1 | c.829G>C (p.Val277Leu) c.991G>C (p.Val331Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224830C>T | CA362740161 | F13A1 | c.829G>A (p.Val277Ile) c.991G>A (p.Val331Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224831G>A | CA3624534 | F13A1 | c.828C>T (p.Leu276=) c.990C>T (p.Leu330=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224831G>C | CA448645877 | F13A1 | c.828C>G (p.Leu276=) c.990C>G (p.Leu330=) | gnomAD v4 |
6 | g.6224831G= | CA1607987887 | F13A1 | c.828C= (p.Leu276=) c.990C= (p.Leu330=) | |
6 | g.6224831G>T | CA448645876 | F13A1 | c.828C>A (p.Leu276=) c.990C>A (p.Leu330=) | |
6 | g.6224832A>C | CA362740162 | F13A1 | c.827T>G (p.Leu276Arg) c.989T>G (p.Leu330Arg) | |
6 | g.6224832A>G | CA362740163 | F13A1 | c.827T>C (p.Leu276Pro) c.989T>C (p.Leu330Pro) | |
6 | g.6224832A>T | CA362740164 | F13A1 | c.827T>A (p.Leu276His) c.989T>A (p.Leu330His) | |
6 | g.6224833G>A | CA362740165 | F13A1 | c.826C>T (p.Leu276Phe) c.988C>T (p.Leu330Phe) | ClinVar |
6 | g.6224833G>C | CA362740166 | F13A1 | c.826C>G (p.Leu276Val) c.988C>G (p.Leu330Val) | |
6 | g.6224833G>T | CA362740167 | F13A1 | c.826C>A (p.Leu276Ile) c.988C>A (p.Leu330Ile) | |
6 | g.6224834G>A | CA448645878 | F13A1 | c.825C>T (p.Val275=) c.987C>T (p.Val329=) | |
6 | g.6224834G>C | CA448645879 | F13A1 | c.825C>G (p.Val275=) c.987C>G (p.Val329=) | |
6 | g.6224834G>T | CA448645880 | F13A1 | c.825C>A (p.Val275=) c.987C>A (p.Val329=) | |
6 | g.6224835A>C | CA362740170 | F13A1 | c.824T>G (p.Val275Gly) c.986T>G (p.Val329Gly) | |
6 | g.6224835A>G | CA362740168 | F13A1 | c.824T>C (p.Val275Ala) c.986T>C (p.Val329Ala) | |
6 | g.6224835A>T | CA362740169 | F13A1 | c.824T>A (p.Val275Asp) c.986T>A (p.Val329Asp) | |
6 | g.6224836C>A | CA362740171 | F13A1 | c.823G>T (p.Val275Phe) c.985G>T (p.Val329Phe) | |
6 | g.6224836C>G | CA362740172 | F13A1 | c.823G>C (p.Val275Leu) c.985G>C (p.Val329Leu) | |
6 | g.6224836C>T | CA362740173 | F13A1 | c.823G>A (p.Val275Ile) c.985G>A (p.Val329Ile) | |
6 | g.6224837A>C | CA448645881 | F13A1 | c.822T>G (p.Gly274=) c.984T>G (p.Gly328=) | gnomAD v4 |
6 | g.6224837A>G | CA448645882 | F13A1 | c.822T>C (p.Gly274=) c.984T>C (p.Gly328=) | |
6 | g.6224837A>T | CA448645883 | F13A1 | c.822T>A (p.Gly274=) c.984T>A (p.Gly328=) | |
6 | g.6224838C>A | CA362740174 | F13A1 | c.821G>T (p.Gly274Val) c.983G>T (p.Gly328Val) | |
6 | g.6224838C= | CA1607987888 | F13A1 | c.821G= (p.Gly274=) c.983G= (p.Gly328=) | |
6 | g.6224838C>G | CA362740175 | F13A1 | c.821G>C (p.Gly274Ala) c.983G>C (p.Gly328Ala) | |
6 | g.6224838C>T | CA362740176 | F13A1 | c.821G>A (p.Gly274Asp) c.983G>A (p.Gly328Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224839C>A | CA362740177 | F13A1 | c.820G>T (p.Gly274Cys) c.982G>T (p.Gly328Cys) | |
6 | g.6224839C>G | CA362740178 | F13A1 | c.820G>C (p.Gly274Arg) c.982G>C (p.Gly328Arg) | ClinVar gnomAD v4 |
6 | g.6224839C>T | CA362740179 | F13A1 | c.820G>A (p.Gly274Ser) c.982G>A (p.Gly328Ser) | COSMIC |
6 | g.6224840T>A | CA362740180 | F13A1 | c.819A>T (p.Glu273Asp) c.981A>T (p.Glu327Asp) | |
6 | g.6224840T>C | CA448645884 | F13A1 | c.819A>G (p.Glu273=) c.981A>G (p.Glu327=) | |
6 | g.6224840T>G | CA362740181 | F13A1 | c.819A>C (p.Glu273Asp) c.981A>C (p.Glu327Asp) | |
6 | g.6224841T>A | CA362740184 | F13A1 | c.818A>T (p.Glu273Val) c.980A>T (p.Glu327Val) | |
6 | g.6224841T>C | CA362740183 | F13A1 | c.818A>G (p.Glu273Gly) c.980A>G (p.Glu327Gly) | |
6 | g.6224841T>G | CA362740182 | F13A1 | c.818A>C (p.Glu273Ala) c.980A>C (p.Glu327Ala) | |
6 | g.6224842C>A | CA362740185 | F13A1 | c.817G>T (p.Glu273Ter) c.979G>T (p.Glu327Ter) | |
6 | g.6224842C= | CA1607987889 | F13A1 | c.817G= (p.Glu273=) c.979G= (p.Glu327=) | |
6 | g.6224842C>G | CA362740186 | F13A1 | c.817G>C (p.Glu273Gln) c.979G>C (p.Glu327Gln) | |
6 | g.6224842C>T | CA3624535 | F13A1 | c.817G>A (p.Glu273Lys) c.979G>A (p.Glu327Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224843G>A | CA3624536 | F13A1 | c.816C>T (p.Asp272=) c.978C>T (p.Asp326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.6224843G>C | CA362740187 | F13A1 | c.816C>G (p.Asp272Glu) c.978C>G (p.Asp326Glu) | |
6 | g.6224843G= | CA1607987890 | F13A1 | c.816C= (p.Asp272=) c.978C= (p.Asp326=) | |
6 | g.6224843G>T | CA362740188 | F13A1 | c.816C>A (p.Asp272Glu) c.978C>A (p.Asp326Glu) | |
6 | g.6224844T>A | CA362740191 | F13A1 | c.815A>T (p.Asp272Val) c.977A>T (p.Asp326Val) | |
6 | g.6224844T>C | CA362740189 | F13A1 | c.815A>G (p.Asp272Gly) c.977A>G (p.Asp326Gly) | |
6 | g.6224844T>G | CA362740190 | F13A1 | c.815A>C (p.Asp272Ala) c.977A>C (p.Asp326Ala) | |
6 | g.6224846_6224848dup | CA826784656 | F13A1 | c.813_815dup (p.Asp272_Glu273insAsp) c.975_977dup (p.Asp326_Glu327insAsp) | dbSNP |
6 | g.6224845C>A | CA362740192 | F13A1 | c.814G>T (p.Asp272Tyr) c.976G>T (p.Asp326Tyr) | gnomAD v4 |
6 | g.6224845C>G | CA362740193 | F13A1 | c.814G>C (p.Asp272His) c.976G>C (p.Asp326His) | |
6 | g.6224845C>T | CA362740194 | F13A1 | c.814G>A (p.Asp272Asn) c.976G>A (p.Asp326Asn) | |
6 | g.6224846A>C | CA362740195 | F13A1 | c.813T>G (p.Asp271Glu) c.975T>G (p.Asp325Glu) | gnomAD v4 |
6 | g.6224846A>G | CA448645885 | F13A1 | c.813T>C (p.Asp271=) c.975T>C (p.Asp325=) | |
6 | g.6224846A>T | CA362740196 | F13A1 | c.813T>A (p.Asp271Glu) c.975T>A (p.Asp325Glu) | |
6 | g.6224847T>A | CA362740197 | F13A1 | c.812A>T (p.Asp271Val) c.974A>T (p.Asp325Val) | |
6 | g.6224847T>C | CA362740199 | F13A1 | c.812A>G (p.Asp271Gly) c.974A>G (p.Asp325Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224847T>G | CA362740198 | F13A1 | c.812A>C (p.Asp271Ala) c.974A>C (p.Asp325Ala) | |
6 | g.6224847T= | CA1607987891 | F13A1 | c.812A= (p.Asp271=) c.974A= (p.Asp325=) | |
6 | g.6224848C>A | CA362740200 | F13A1 | c.811G>T (p.Asp271Tyr) c.973G>T (p.Asp325Tyr) | |
6 | g.6224848C>G | CA362740201 | F13A1 | c.811G>C (p.Asp271His) c.973G>C (p.Asp325His) | |
6 | g.6224848C>T | CA362740202 | F13A1 | c.811G>A (p.Asp271Asn) c.973G>A (p.Asp325Asn) | |
6 | g.6224849T>A | CA362740203 | F13A1 | c.810A>T (p.Lys270Asn) c.972A>T (p.Lys324Asn) | |
6 | g.6224849T>C | CA448645886 | F13A1 | c.810A>G (p.Lys270=) c.972A>G (p.Lys324=) | |
6 | g.6224849T>G | CA362740204 | F13A1 | c.810A>C (p.Lys270Asn) c.972A>C (p.Lys324Asn) | |
6 | g.6224850T>A | CA362740205 | F13A1 | c.809A>T (p.Lys270Ile) c.971A>T (p.Lys324Ile) | |
6 | g.6224850T>C | CA362740206 | F13A1 | c.809A>G (p.Lys270Arg) c.971A>G (p.Lys324Arg) | |
6 | g.6224850T>G | CA362740207 | F13A1 | c.809A>C (p.Lys270Thr) c.971A>C (p.Lys324Thr) | |
6 | g.6224851T>A | CA362740208 | F13A1 | c.808A>T (p.Lys270Ter) c.970A>T (p.Lys324Ter) | |
6 | g.6224851T>C | CA362740209 | F13A1 | c.808A>G (p.Lys270Glu) c.970A>G (p.Lys324Glu) | |
6 | g.6224851T>G | CA362740210 | F13A1 | c.808A>C (p.Lys270Gln) c.970A>C (p.Lys324Gln) | |
6 | g.6224852G>A | CA448645887 | F13A1 | c.807C>T (p.Ala269=) c.969C>T (p.Ala323=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224852G>C | CA448645889 | F13A1 | c.807C>G (p.Ala269=) c.969C>G (p.Ala323=) | |
6 | g.6224852G= | CA1607987892 | F13A1 | c.807C= (p.Ala269=) c.969C= (p.Ala323=) | |
6 | g.6224852G>T | CA448645888 | F13A1 | c.807C>A (p.Ala269=) c.969C>A (p.Ala323=) | |
6 | g.6224853G>A | CA362740212 | F13A1 | c.806C>T (p.Ala269Val) c.968C>T (p.Ala323Val) | COSMIC |
6 | g.6224853G>C | CA362740213 | F13A1 | c.806C>G (p.Ala269Gly) c.968C>G (p.Ala323Gly) | |
6 | g.6224853G>T | CA362740211 | F13A1 | c.806C>A (p.Ala269Asp) c.968C>A (p.Ala323Asp) | |
6 | g.6224854C>A | CA362740215 | F13A1 | c.805G>T (p.Ala269Ser) c.967G>T (p.Ala323Ser) | |
6 | g.6224854C>G | CA362740214 | F13A1 | c.805G>C (p.Ala269Pro) c.967G>C (p.Ala323Pro) | |
6 | g.6224854C>T | CA362740216 | F13A1 | c.805G>A (p.Ala269Thr) c.967G>A (p.Ala323Thr) | |
6 | g.6224855A= | CA1607987893 | F13A1 | c.804T= (p.Asn268=) c.966T= (p.Asn322=) | |
6 | g.6224855A>C | CA362740217 | F13A1 | c.804T>G (p.Asn268Lys) c.966T>G (p.Asn322Lys) | |
6 | g.6224855A>G | CA448645890 | F13A1 | c.804T>C (p.Asn268=) c.966T>C (p.Asn322=) | dbSNP gnomAD v4 |
6 | g.6224855A>T | CA362740218 | F13A1 | c.804T>A (p.Asn268Lys) c.966T>A (p.Asn322Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224856T>A | CA362740219 | F13A1 | c.803A>T (p.Asn268Ile) c.965A>T (p.Asn322Ile) | |
6 | g.6224856T>C | CA362740221 | F13A1 | c.803A>G (p.Asn268Ser) c.965A>G (p.Asn322Ser) | |
6 | g.6224856T>G | CA362740220 | F13A1 | c.803A>C (p.Asn268Thr) c.965A>C (p.Asn322Thr) | |
6 | g.6224857T>A | CA362740222 | F13A1 | c.802A>T (p.Asn268Tyr) c.964A>T (p.Asn322Tyr) | |
6 | g.6224857T>C | CA362740223 | F13A1 | c.802A>G (p.Asn268Asp) c.964A>G (p.Asn322Asp) | |
6 | g.6224857T>G | CA362740224 | F13A1 | c.802A>C (p.Asn268His) c.964A>C (p.Asn322His) | |
6 | g.6224858C>A | CA448645891 | F13A1 | c.801G>T (p.Val267=) c.963G>T (p.Val321=) | |
6 | g.6224858C>G | CA448645892 | F13A1 | c.801G>C (p.Val267=) c.963G>C (p.Val321=) | |
6 | g.6224858C>T | CA448645893 | F13A1 | c.801G>A (p.Val267=) c.963G>A (p.Val321=) | |
6 | g.6224859A>C | CA362740225 | F13A1 | c.800T>G (p.Val267Gly) c.962T>G (p.Val321Gly) | |
6 | g.6224859A>G | CA362740226 | F13A1 | c.800T>C (p.Val267Ala) c.962T>C (p.Val321Ala) | gnomAD v4 |
6 | g.6224859A>T | CA362740227 | F13A1 | c.800T>A (p.Val267Glu) c.962T>A (p.Val321Glu) | |
6 | g.6224859_6224860delinsAC | CA1607987894 | F13A1 | c.799_800delinsGT (p.Val267=) c.961_962delinsGT (p.Val321=) | |
6 | g.6224860C>A | CA362740228 | F13A1 | c.799G>T (p.Val267Leu) c.961G>T (p.Val321Leu) | |
6 | g.6224860C= | CA1607987895 | F13A1 | c.799G= (p.Val267=) c.961G= (p.Val321=) | |
6 | g.6224860C>G | CA362740229 | F13A1 | c.799G>C (p.Val267Leu) c.961G>C (p.Val321Leu) | dbSNP |
6 | g.6224860C>T | CA3624537 | F13A1 | c.799G>A (p.Val267Met) c.961G>A (p.Val321Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224861del | CA1085629314 | F13A1 | c.799del c.961del | dbSNP gnomAD v3 gnomAD v4 |
6 | g.6224861C>A | CA362740230 | F13A1 | c.799-1G>T (n.799-1G>T) c.961-1G>T (n.961-1G>T) | |
6 | g.6224861C>G | CA362740231 | F13A1 | c.799-1G>C (n.799-1G>C) c.961-1G>C (n.961-1G>C) | |
6 | g.6224861C>T | CA362740232 | F13A1 | c.799-1G>A (n.799-1G>A) c.961-1G>A (n.961-1G>A) | |
6 | g.6224862T>A | CA362740235 | F13A1 | c.799-2A>T (n.799-2A>T) c.961-2A>T (n.961-2A>T) | gnomAD v4 |
6 | g.6224862T>C | CA362740233 | F13A1 | c.799-2A>G (n.799-2A>G) c.961-2A>G (n.961-2A>G) | |
6 | g.6224862T>G | CA362740234 | F13A1 | c.799-2A>C (n.799-2A>C) c.961-2A>C (n.961-2A>C) | |
6 | g.6224865A>G | CA2769869643 | F13A1 | c.799-5T>C (n.799-5T>C) c.961-5T>C (n.961-5T>C) | |
6 | g.6224866T>C | CA3624538 | F13A1 | c.799-6A>G (n.799-6A>G) c.961-6A>G (n.961-6A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224866T>G | CA2677191666 | F13A1 | c.799-6A>C (n.799-6A>C) c.961-6A>C (n.961-6A>C) | gnomAD v4 |
6 | g.6224866T= | CA1607987896 | F13A1 | c.799-6A= (n.799-6A=) c.961-6A= (n.961-6A=) | |
6 | g.6224867G>A | CA2677191667 | F13A1 | c.799-7C>T (n.799-7C>T) c.961-7C>T (n.961-7C>T) | gnomAD v4 |
6 | g.6224869G>A | CA2677191668 | F13A1 | c.799-9C>T (n.799-9C>T) c.961-9C>T (n.961-9C>T) | gnomAD v4 |
6 | g.6224871C>A | CA134391477 | F13A1 | c.799-11G>T (n.799-11G>T) c.961-11G>T (n.961-11G>T) | dbSNP |
6 | g.6224871C= | CA1607987897 | F13A1 | c.799-11G= (n.799-11G=) c.961-11G= (n.961-11G=) | |
6 | g.6224872C= | CA1607987898 | F13A1 | c.799-12G= (n.799-12G=) c.961-12G= (n.961-12G=) | |
6 | g.6224872C>G | CA2677191669 | F13A1 | c.799-12G>C (n.799-12G>C) c.961-12G>C (n.961-12G>C) | gnomAD v4 |
6 | g.6224872C>T | CA3624539 | F13A1 | c.799-12G>A (n.799-12G>A) c.961-12G>A (n.961-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224872_6224879delinsCGTGAGAA | CA1607987899 | F13A1 | c.799-19_799-12delinsTTCTCACG (n.799-19_799-12delinsTTCTCACG) c.961-19_961-12delinsTTCTCACG (n.961-19_961-12delinsTTCTCACG) | |
6 | g.6224873G>A | CA3624540 | F13A1 | c.799-13C>T (n.799-13C>T) c.961-13C>T (n.961-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.6224873G= | CA1607987900 | F13A1 | c.799-13C= (n.799-13C=) c.961-13C= (n.961-13C=) | |
6 | g.6224881_6224887del | CA565299891 | F13A1 | c.799-19_799-13del (n.799-19_799-13del) c.961-19_961-13del (n.961-19_961-13del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.6224874T>G | CA2578522230 | F13A1 | c.799-14A>C (n.799-14A>C) c.961-14A>C (n.961-14A>C) | gnomAD v4 |
6 | g.6224879A>C | CA2578522231 | F13A1 | c.799-19T>G (n.799-19T>G) c.961-19T>G (n.961-19T>G) | gnomAD v4 |
6 | g.6224880G= | CA1607987901 | F13A1 | c.799-20C= (n.799-20C=) c.961-20C= (n.961-20C=) | |
6 | g.6224880G>T | CA3624541 | F13A1 | c.799-20C>A (n.799-20C>A) c.961-20C>A (n.961-20C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224880_6224881insCTTCCATAAC | CA917666701 | F13A1 | c.799-21_799-20insGTTATGGAAG (n.799-21_799-20insGTTATGGAAG) c.961-21_961-20insGTTATGGAAG (n.961-21_961-20insGTTATGGAAG) | dbSNP |
6 | g.6224882G= | CA1607987902 | F13A1 | c.799-22C= (n.799-22C=) c.961-22C= (n.961-22C=) | |
6 | g.6224882_6224883insGGATAAAAATTA | CA917666702 | F13A1 | c.799-23_799-22insTAATTTTTATCC (n.799-23_799-22insTAATTTTTATCC) c.961-23_961-22insTAATTTTTATCC (n.961-23_961-22insTAATTTTTATCC) | dbSNP |
6 | g.6224883A>G | CA2740716312 | F13A1 | c.799-23T>C (n.799-23T>C) c.961-23T>C (n.961-23T>C) | |
6 | g.6224884G>A | CA2677191670 | F13A1 | c.799-24C>T (n.799-24C>T) c.961-24C>T (n.961-24C>T) | gnomAD v4 |
6 | g.6224884G>C | CA3624542 | F13A1 | c.799-24C>G (n.799-24C>G) c.961-24C>G (n.961-24C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.6224884G= | CA1607987903 | F13A1 | c.799-24C= (n.799-24C=) c.961-24C= (n.961-24C=) | |
6 | g.6224888_6224891del | CA2769869644 | F13A1 | c.799-27_799-24del (n.799-27_799-24del) c.961-27_961-24del (n.961-27_961-24del) |