Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154966561_154966572del | CA2695237371 | F8 | c.1127_1138del (p.Val376_Phe379del) c.*1003_*1014del (n.*1003_*1014del) c.1022_1033del (p.Val341_Phe344del) | |
X | g.154966568C>A | CA414916662 | F8 | c.1129G>T (p.Val377Phe) c.*1005G>T (n.*1005G>T) c.1024G>T (p.Val342Phe) | |
X | g.154966568C>G | CA414916665 | F8 | c.1129G>C (p.Val377Leu) c.*1005G>C (n.*1005G>C) c.1024G>C (p.Val342Leu) | |
X | g.154966568C>T | CA414916667 | F8 | c.1129G>A (p.Val377Ile) c.*1005G>A (n.*1005G>A) c.1024G>A (p.Val342Ile) | |
X | g.154966569C>A | CA519365405 | F8 | c.1128G>T (p.Val376=) c.*1004G>T (n.*1004G>T) c.1023G>T (p.Val341=) | |
X | g.154966569C>G | CA519365409 | F8 | c.1128G>C (p.Val376=) c.*1004G>C (n.*1004G>C) c.1023G>C (p.Val341=) | |
X | g.154966569C>T | CA519365410 | F8 | c.1128G>A (p.Val376=) c.*1004G>A (n.*1004G>A) c.1023G>A (p.Val341=) | |
X | g.154966570A>C | CA414916672 | F8 | c.1127T>G (p.Val376Gly) c.*1003T>G (n.*1003T>G) c.1022T>G (p.Val341Gly) | |
X | g.154966570A>G | CA414916674 | F8 | c.1127T>C (p.Val376Ala) c.*1003T>C (n.*1003T>C) c.1022T>C (p.Val341Ala) | |
X | g.154966570A>T | CA414916677 | F8 | c.1127T>A (p.Val376Glu) c.*1003T>A (n.*1003T>A) c.1022T>A (p.Val341Glu) | |
X | g.154966571del | CA2695237373 | F8 | c.1126del (p.Val376TrpfsTer?) c.*1002del (n.*1002del) c.1021del (p.Val341TrpfsTer?) | |
X | g.154966571C>A | CA414916678 | F8 | c.1126G>T (p.Val376Leu) c.*1002G>T (n.*1002G>T) c.1021G>T (p.Val341Leu) | COSMIC COSMIC |
X | g.154966571C= | CA2466848134 | F8 | c.1126G= (p.Val376=) c.*1002G= (n.*1002G=) c.1021G= (p.Val341=) | |
X | g.154966571C>G | CA414916679 | F8 | c.1126G>C (p.Val376Leu) c.*1002G>C (n.*1002G>C) c.1021G>C (p.Val341Leu) | |
X | g.154966571C>T | CA414916680 | F8 | c.1126G>A (p.Val376Met) c.*1002G>A (n.*1002G>A) c.1021G>A (p.Val341Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966572A>C | CA414916683 | F8 | c.1125T>G (p.Asp375Glu) c.*1001T>G (n.*1001T>G) c.1020T>G (p.Asp340Glu) | |
X | g.154966572A>G | CA519365424 | F8 | c.1125T>C (p.Asp375=) c.*1001T>C (n.*1001T>C) c.1020T>C (p.Asp340=) | |
X | g.154966572A>T | CA414916682 | F8 | c.1125T>A (p.Asp375Glu) c.*1001T>A (n.*1001T>A) c.1020T>A (p.Asp340Glu) | |
X | g.154966573T>A | CA414916687 | F8 | c.1124A>T (p.Asp375Val) c.*1000A>T (n.*1000A>T) c.1019A>T (p.Asp340Val) | |
X | g.154966573T>C | CA414916692 | F8 | c.1124A>G (p.Asp375Gly) c.*1000A>G (n.*1000A>G) c.1019A>G (p.Asp340Gly) | |
X | g.154966573T>G | CA414916690 | F8 | c.1124A>C (p.Asp375Ala) c.*1000A>C (n.*1000A>C) c.1019A>C (p.Asp340Ala) | |
X | g.154966574C>A | CA414916696 | F8 | c.1123G>T (p.Asp375Tyr) c.*999G>T (n.*999G>T) c.1018G>T (p.Asp340Tyr) | |
X | g.154966574C>G | CA414916700 | F8 | c.1123G>C (p.Asp375His) c.*999G>C (n.*999G>C) c.1018G>C (p.Asp340His) | gnomAD v4 |
X | g.154966574C>T | CA414916702 | F8 | c.1123G>A (p.Asp375Asn) c.*999G>A (n.*999G>A) c.1018G>A (p.Asp340Asn) | gnomAD v4 |
X | g.154966575C>A | CA414916704 | F8 | c.1122G>T (p.Met374Ile) c.*998G>T (n.*998G>T) c.1017G>T (p.Met339Ile) | |
X | g.154966575C= | CA2466848135 | F8 | c.1122G= (p.Met374=) c.*998G= (n.*998G=) c.1017G= (p.Met339=) | |
X | g.154966575C>G | CA414916707 | F8 | c.1122G>C (p.Met374Ile) c.*998G>C (n.*998G>C) c.1017G>C (p.Met339Ile) | dbSNP |
X | g.154966575C>T | CA414916712 | F8 | c.1122G>A (p.Met374Ile) c.*998G>A (n.*998G>A) c.1017G>A (p.Met339Ile) | |
X | g.154966576A>C | CA414916715 | F8 | c.1121T>G (p.Met374Arg) c.*997T>G (n.*997T>G) c.1016T>G (p.Met339Arg) | |
X | g.154966576A>G | CA414916717 | F8 | c.1121T>C (p.Met374Thr) c.*997T>C (n.*997T>C) c.1016T>C (p.Met339Thr) | |
X | g.154966576A>T | CA414916720 | F8 | c.1121T>A (p.Met374Lys) c.*997T>A (n.*997T>A) c.1016T>A (p.Met339Lys) | |
X | g.154966577T>A | CA414916722 | F8 | c.1120A>T (p.Met374Leu) c.*996A>T (n.*996A>T) c.1015A>T (p.Met339Leu) | |
X | g.154966577T>C | CA414916724 | F8 | c.1120A>G (p.Met374Val) c.*996A>G (n.*996A>G) c.1015A>G (p.Met339Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154966577T>G | CA414916727 | F8 | c.1120A>C (p.Met374Leu) c.*996A>C (n.*996A>C) c.1015A>C (p.Met339Leu) | |
X | g.154966579del | CA2695197149 | F8 | c.1120del (p.Met374TrpfsTer?) c.*996del (n.*996del) c.1015del (p.Met339TrpfsTer?) | ClinVar |
X | g.154966578T>A | CA414916730 | F8 | c.1119A>T (p.Glu373Asp) c.*995A>T (n.*995A>T) c.1014A>T (p.Glu338Asp) | |
X | g.154966578T>C | CA519365454 | F8 | c.1119A>G (p.Glu373=) c.*995A>G (n.*995A>G) c.1014A>G (p.Glu338=) | |
X | g.154966578T>G | CA414916732 | F8 | c.1119A>C (p.Glu373Asp) c.*995A>C (n.*995A>C) c.1014A>C (p.Glu338Asp) | |
X | g.154966579T>A | CA414916735 | F8 | c.1118A>T (p.Glu373Val) c.*994A>T (n.*994A>T) c.1013A>T (p.Glu338Val) | |
X | g.154966579T>C | CA414916737 | F8 | c.1118A>G (p.Glu373Gly) c.*994A>G (n.*994A>G) c.1013A>G (p.Glu338Gly) | |
X | g.154966579T>G | CA414916740 | F8 | c.1118A>C (p.Glu373Ala) c.*994A>C (n.*994A>C) c.1013A>C (p.Glu338Ala) | |
X | g.154966580C>A | CA414916742 | F8 | c.1117G>T (p.Glu373Ter) c.*993G>T (n.*993G>T) c.1012G>T (p.Glu338Ter) | |
X | g.154966580C>G | CA414916743 | F8 | c.1117G>C (p.Glu373Gln) c.*993G>C (n.*993G>C) c.1012G>C (p.Glu338Gln) | gnomAD v4 |
X | g.154966580C>T | CA414916745 | F8 | c.1117G>A (p.Glu373Lys) c.*993G>A (n.*993G>A) c.1012G>A (p.Glu338Lys) | |
X | g.154966581A>C | CA519365466 | F8 | c.1116T>G (p.Ser372=) c.*992T>G (n.*992T>G) c.1011T>G (p.Ser337=) | |
X | g.154966581A>G | CA519365470 | F8 | c.1116T>C (p.Ser372=) c.*992T>C (n.*992T>C) c.1011T>C (p.Ser337=) | COSMIC COSMIC |
X | g.154966581A>T | CA519365468 | F8 | c.1116T>A (p.Ser372=) c.*992T>A (n.*992T>A) c.1011T>A (p.Ser337=) | |
X | g.154966582G>A | CA414916747 | F8 | c.1115C>T (p.Ser372Phe) c.*991C>T (n.*991C>T) c.1010C>T (p.Ser337Phe) | COSMIC COSMIC |
X | g.154966582G>C | CA414916749 | F8 | c.1115C>G (p.Ser372Cys) c.*991C>G (n.*991C>G) c.1010C>G (p.Ser337Cys) | |
X | g.154966582G>T | CA414916751 | F8 | c.1115C>A (p.Ser372Tyr) c.*991C>A (n.*991C>A) c.1010C>A (p.Ser337Tyr) |