Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154966668_154966677del | CA2695237397 | F8 | c.1021_1030del (p.Ala341LysfsTer2) c.*897_*906del (n.*897_*906del) c.916_925del (p.Ala306LysfsTer2) | |
X | g.154966668G>A | CA519365942 | F8 | c.1029C>T (p.Val343=) c.*905C>T (n.*905C>T) c.924C>T (p.Val308=) | gnomAD v4 |
X | g.154966668G>C | CA519365935 | F8 | c.1029C>G (p.Val343=) c.*905C>G (n.*905C>G) c.924C>G (p.Val308=) | |
X | g.154966668G>T | CA519365940 | F8 | c.1029C>A (p.Val343=) c.*905C>A (n.*905C>A) c.924C>A (p.Val308=) | |
X | g.154966669A>C | CA414917284 | F8 | c.1028T>G (p.Val343Gly) c.*904T>G (n.*904T>G) c.923T>G (p.Val308Gly) | |
X | g.154966669A>G | CA414917285 | F8 | c.1028T>C (p.Val343Ala) c.*904T>C (n.*904T>C) c.923T>C (p.Val308Ala) | COSMIC COSMIC |
X | g.154966669A>T | CA414917287 | F8 | c.1028T>A (p.Val343Asp) c.*904T>A (n.*904T>A) c.923T>A (p.Val308Asp) | |
X | g.154966670C>A | CA414917288 | F8 | c.1027G>T (p.Val343Phe) c.*903G>T (n.*903G>T) c.922G>T (p.Val308Phe) | gnomAD v4 |
X | g.154966670C>G | CA414917291 | F8 | c.1027G>C (p.Val343Leu) c.*903G>C (n.*903G>C) c.922G>C (p.Val308Leu) | |
X | g.154966670C>T | CA414917293 | F8 | c.1027G>A (p.Val343Ile) c.*903G>A (n.*903G>A) c.922G>A (p.Val308Ile) | |
X | g.154966671A= | CA2466848168 | F8 | c.1026T= (p.Tyr342=) c.*902T= (n.*902T=) c.921T= (p.Tyr307=) | |
X | g.154966671A>C | CA414917296 | F8 | c.1026T>G (p.Tyr342Ter) c.*902T>G (n.*902T>G) c.921T>G (p.Tyr307Ter) | |
X | g.154966671A>G | CA519365961 | F8 | c.1026T>C (p.Tyr342=) c.*902T>C (n.*902T>C) c.921T>C (p.Tyr307=) | |
X | g.154966671A>T | CA255087 | F8 | c.1026T>A (p.Tyr342Ter) c.*902T>A (n.*902T>A) c.921T>A (p.Tyr307Ter) | ClinVar dbSNP |
X | g.154966672_154966673del | CA2695237398 | F8 | c.1025_1026del (p.Tyr342CysfsTer17) c.*901_*902del (n.*901_*902del) c.920_921del (p.Tyr307CysfsTer17) | |
X | g.154966672T>A | CA414917299 | F8 | c.1025A>T (p.Tyr342Phe) c.*901A>T (n.*901A>T) c.920A>T (p.Tyr307Phe) | |
X | g.154966672T>C | CA414917302 | F8 | c.1025A>G (p.Tyr342Cys) c.*901A>G (n.*901A>G) c.920A>G (p.Tyr307Cys) | |
X | g.154966672T>G | CA414917305 | F8 | c.1025A>C (p.Tyr342Ser) c.*901A>C (n.*901A>C) c.920A>C (p.Tyr307Ser) | |
X | g.154966673A>C | CA414917308 | F8 | c.1024T>G (p.Tyr342Asp) c.*900T>G (n.*900T>G) c.919T>G (p.Tyr307Asp) | |
X | g.154966673A>G | CA414917315 | F8 | c.1024T>C (p.Tyr342His) c.*900T>C (n.*900T>C) c.919T>C (p.Tyr307His) | |
X | g.154966673A>T | CA414917310 | F8 | c.1024T>A (p.Tyr342Asn) c.*900T>A (n.*900T>A) c.919T>A (p.Tyr307Asn) | |
X | g.154966674del | CA2695237400 | F8 | c.1024del (p.Tyr342MetfsTer4) c.*900del (n.*900del) c.919del (p.Tyr307MetfsTer4) | |
X | g.154966674_154966681del | CA2695237399 | F8 | c.1017_1024del (p.Met339IlefsTer18) c.*893_*900del (n.*893_*900del) c.912_919del (p.Met304IlefsTer18) | |
X | g.154966674A= | CA2466848169 | F8 | c.1023T= (p.Ala341=) c.*899T= (n.*899T=) c.918T= (p.Ala306=) | |
X | g.154966674A>C | CA519365982 | F8 | c.1023T>G (p.Ala341=) c.*899T>G (n.*899T>G) c.918T>G (p.Ala306=) | |
X | g.154966674A>G | CA519365977 | F8 | c.1023T>C (p.Ala341=) c.*899T>C (n.*899T>C) c.918T>C (p.Ala306=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154966674A>T | CA519365979 | F8 | c.1023T>A (p.Ala341=) c.*899T>A (n.*899T>A) c.918T>A (p.Ala306=) | |
X | g.154966675G>A | CA414917317 | F8 | c.1022C>T (p.Ala341Val) c.*898C>T (n.*898C>T) c.917C>T (p.Ala306Val) | |
X | g.154966675G>C | CA414917319 | F8 | c.1022C>G (p.Ala341Gly) c.*898C>G (n.*898C>G) c.917C>G (p.Ala306Gly) | |
X | g.154966675G>T | CA414917322 | F8 | c.1022C>A (p.Ala341Asp) c.*898C>A (n.*898C>A) c.917C>A (p.Ala306Asp) | |
X | g.154966676C>A | CA414917326 | F8 | c.1021G>T (p.Ala341Ser) c.*897G>T (n.*897G>T) c.916G>T (p.Ala306Ser) | |
X | g.154966676C>G | CA414917327 | F8 | c.1021G>C (p.Ala341Pro) c.*897G>C (n.*897G>C) c.916G>C (p.Ala306Pro) | |
X | g.154966676C>T | CA414917330 | F8 | c.1021G>A (p.Ala341Thr) c.*897G>A (n.*897G>A) c.916G>A (p.Ala306Thr) | gnomAD v4 |
X | g.154966677T>A | CA414917333 | F8 | c.1020A>T (p.Glu340Asp) c.*896A>T (n.*896A>T) c.915A>T (p.Glu305Asp) | |
X | g.154966677T>C | CA519365995 | F8 | c.1020A>G (p.Glu340=) c.*896A>G (n.*896A>G) c.915A>G (p.Glu305=) | |
X | g.154966677T>G | CA414917341 | F8 | c.1020A>C (p.Glu340Asp) c.*896A>C (n.*896A>C) c.915A>C (p.Glu305Asp) | ClinVar dbSNP gnomAD v4 |
X | g.154966677T= | CA2466848170 | F8 | c.1020A= (p.Glu340=) c.*896A= (n.*896A=) c.915A= (p.Glu305=) | |
X | g.154966678T>A | CA414917346 | F8 | c.1019A>T (p.Glu340Val) c.*895A>T (n.*895A>T) c.914A>T (p.Glu305Val) | |
X | g.154966678T>C | CA414917350 | F8 | c.1019A>G (p.Glu340Gly) c.*895A>G (n.*895A>G) c.914A>G (p.Glu305Gly) | |
X | g.154966678T>G | CA414917343 | F8 | c.1019A>C (p.Glu340Ala) c.*895A>C (n.*895A>C) c.914A>C (p.Glu305Ala) | |
X | g.154966679C>A | CA414917352 | F8 | c.1018G>T (p.Glu340Ter) c.*894G>T (n.*894G>T) c.913G>T (p.Glu305Ter) | |
X | g.154966679C= | CA2466848171 | F8 | c.1018G= (p.Glu340=) c.*894G= (n.*894G=) c.913G= (p.Glu305=) | |
X | g.154966679C>G | CA414917354 | F8 | c.1018G>C (p.Glu340Gln) c.*894G>C (n.*894G>C) c.913G>C (p.Glu305Gln) | |
X | g.154966679C>T | CA10568511 | F8 | c.1018G>A (p.Glu340Lys) c.*894G>A (n.*894G>A) c.913G>A (p.Glu305Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154966680C>A | CA414917359 | F8 | c.1017G>T (p.Met339Ile) c.*893G>T (n.*893G>T) c.912G>T (p.Met304Ile) | |
X | g.154966680C>G | CA414917361 | F8 | c.1017G>C (p.Met339Ile) c.*893G>C (n.*893G>C) c.912G>C (p.Met304Ile) | |
X | g.154966680C>T | CA414917364 | F8 | c.1017G>A (p.Met339Ile) c.*893G>A (n.*893G>A) c.912G>A (p.Met304Ile) | |
X | g.154966681A>C | CA414917368 | F8 | c.1016T>G (p.Met339Arg) c.*892T>G (n.*892T>G) c.911T>G (p.Met304Arg) | |
X | g.154966681A>G | CA414917370 | F8 | c.1016T>C (p.Met339Thr) c.*892T>C (n.*892T>C) c.911T>C (p.Met304Thr) | |
X | g.154966681A>T | CA414917374 | F8 | c.1016T>A (p.Met339Lys) c.*892T>A (n.*892T>A) c.911T>A (p.Met304Lys) |