| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154837577_154837772del | CA915940534 | F8 | c.6901-20_*20del c.634-20_*20del c.496-20_*20del c.6796-20_*20del | |
| X | g.154837673_154837681del | CA2695237110 | F8 | c.6972_6980del (p.Leu2325_Ile2327del) c.705_713del (p.Leu236_Ile238del) c.567_575del (p.Leu190_Ile192del) c.6867_6875del (p.Leu2290_Ile2292del) | |
| X | g.154837676C>A | CA255018 | F8 | c.6977G>T (p.Arg2326Leu) c.710G>T (p.Arg237Leu) c.572G>T (p.Arg191Leu) c.6872G>T (p.Arg2291Leu) | ClinVar dbSNP |
| X | g.154837676C= | CA2466807437 | F8 | c.6977G= (p.Arg2326=) c.710G= (p.Arg237=) c.572G= (p.Arg191=) c.6872G= (p.Arg2291=) | |
| X | g.154837676C>G | CA414897157 | F8 | c.6977G>C (p.Arg2326Pro) c.710G>C (p.Arg237Pro) c.572G>C (p.Arg191Pro) c.6872G>C (p.Arg2291Pro) | dbSNP |
| X | g.154837676C>T | CA255027 | F8 | c.6977G>A (p.Arg2326Gln) c.710G>A (p.Arg237Gln) c.572G>A (p.Arg191Gln) c.6872G>A (p.Arg2291Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837679_154837687del | CA2695237111 | F8 | c.6969_6977del (p.Tyr2324_Arg2326del) c.702_710del (p.Tyr235_Arg237del) c.564_572del (p.Tyr189_Arg191del) c.6864_6872del (p.Tyr2289_Arg2291del) | |
| X | g.154837677G>A | CA255007 | F8 | c.6976C>T (p.Arg2326Ter) c.709C>T (p.Arg237Ter) c.571C>T (p.Arg191Ter) c.6871C>T (p.Arg2291Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154837677G>C | CA414897172 | F8 | c.6976C>G (p.Arg2326Gly) c.709C>G (p.Arg237Gly) c.571C>G (p.Arg191Gly) c.6871C>G (p.Arg2291Gly) | |
| X | g.154837677G= | CA2466807438 | F8 | c.6976C= (p.Arg2326=) c.709C= (p.Arg237=) c.571C= (p.Arg191=) c.6871C= (p.Arg2291=) | |
| X | g.154837677G>T | CA519355250 | F8 | c.6976C>A (p.Arg2326=) c.709C>A (p.Arg237=) c.571C>A (p.Arg191=) c.6871C>A (p.Arg2291=) | |
| X | g.154837678A>C | CA519355251 | F8 | c.6975T>G (p.Leu2325=) c.708T>G (p.Leu236=) c.570T>G (p.Leu190=) c.6870T>G (p.Leu2290=) | |
| X | g.154837678A>G | CA519355252 | F8 | c.6975T>C (p.Leu2325=) c.708T>C (p.Leu236=) c.570T>C (p.Leu190=) c.6870T>C (p.Leu2290=) | |
| X | g.154837678A>T | CA519355253 | F8 | c.6975T>A (p.Leu2325=) c.708T>A (p.Leu236=) c.570T>A (p.Leu190=) c.6870T>A (p.Leu2290=) | |
| X | g.154837679del | CA2573055171 | F8 | c.6975del (p.Arg2326GlufsTer13) c.708del (p.Arg237GlufsTer13) c.570del (p.Arg191GlufsTer13) c.6870del (p.Arg2291GlufsTer13) | ClinVar dbSNP |
| X | g.154837679A>C | CA414897176 | F8 | c.6974T>G (p.Leu2325Arg) c.707T>G (p.Leu236Arg) c.569T>G (p.Leu190Arg) c.6869T>G (p.Leu2290Arg) | |
| X | g.154837679A>G | CA414897180 | F8 | c.6974T>C (p.Leu2325Pro) c.707T>C (p.Leu236Pro) c.569T>C (p.Leu190Pro) c.6869T>C (p.Leu2290Pro) | |
| X | g.154837679A>T | CA414897183 | F8 | c.6974T>A (p.Leu2325His) c.707T>A (p.Leu236His) c.569T>A (p.Leu190His) c.6869T>A (p.Leu2290His) | |
| X | g.154837680G>A | CA414897188 | F8 | c.6973C>T (p.Leu2325Phe) c.706C>T (p.Leu236Phe) c.568C>T (p.Leu190Phe) c.6868C>T (p.Leu2290Phe) | gnomAD v4 |
| X | g.154837680G>C | CA414897194 | F8 | c.6973C>G (p.Leu2325Val) c.706C>G (p.Leu236Val) c.568C>G (p.Leu190Val) c.6868C>G (p.Leu2290Val) | |
| X | g.154837680G>T | CA414897197 | F8 | c.6973C>A (p.Leu2325Ile) c.706C>A (p.Leu236Ile) c.568C>A (p.Leu190Ile) c.6868C>A (p.Leu2290Ile) | |
| X | g.154837681G>A | CA519355255 | F8 | c.6972C>T (p.Tyr2324=) c.705C>T (p.Tyr235=) c.567C>T (p.Tyr189=) c.6867C>T (p.Tyr2289=) | |
| X | g.154837681G>C | CA414897200 | F8 | c.6972C>G (p.Tyr2324Ter) c.705C>G (p.Tyr235Ter) c.567C>G (p.Tyr189Ter) c.6867C>G (p.Tyr2289Ter) | |
| X | g.154837681G= | CA2466807439 | F8 | c.6972C= (p.Tyr2324=) c.705C= (p.Tyr235=) c.567C= (p.Tyr189=) c.6867C= (p.Tyr2289=) | |
| X | g.154837681G>T | CA414897203 | F8 | c.6972C>A (p.Tyr2324Ter) c.705C>A (p.Tyr235Ter) c.567C>A (p.Tyr189Ter) c.6867C>A (p.Tyr2289Ter) | dbSNP |
| X | g.154837682T>A | CA414897216 | F8 | c.6971A>T (p.Tyr2324Phe) c.704A>T (p.Tyr235Phe) c.566A>T (p.Tyr189Phe) c.6866A>T (p.Tyr2289Phe) | |
| X | g.154837682T>C | CA414897210 | F8 | c.6971A>G (p.Tyr2324Cys) c.704A>G (p.Tyr235Cys) c.566A>G (p.Tyr189Cys) c.6866A>G (p.Tyr2289Cys) | |
| X | g.154837682T>G | CA414897213 | F8 | c.6971A>C (p.Tyr2324Ser) c.704A>C (p.Tyr235Ser) c.566A>C (p.Tyr189Ser) c.6866A>C (p.Tyr2289Ser) | |
| X | g.154837683A>C | CA414897220 | F8 | c.6970T>G (p.Tyr2324Asp) c.703T>G (p.Tyr235Asp) c.565T>G (p.Tyr189Asp) c.6865T>G (p.Tyr2289Asp) | |
| X | g.154837683A>G | CA414897223 | F8 | c.6970T>C (p.Tyr2324His) c.703T>C (p.Tyr235His) c.565T>C (p.Tyr189His) c.6865T>C (p.Tyr2289His) | |
| X | g.154837683A>T | CA414897226 | F8 | c.6970T>A (p.Tyr2324Asn) c.703T>A (p.Tyr235Asn) c.565T>A (p.Tyr189Asn) c.6865T>A (p.Tyr2289Asn) | |
| X | g.154837684G>A | CA519355259 | F8 | c.6969C>T (p.Arg2323=) c.702C>T (p.Arg234=) c.564C>T (p.Arg188=) c.6864C>T (p.Arg2288=) | |
| X | g.154837684G>C | CA519355260 | F8 | c.6969C>G (p.Arg2323=) c.702C>G (p.Arg234=) c.564C>G (p.Arg188=) c.6864C>G (p.Arg2288=) | |
| X | g.154837684G>T | CA519355261 | F8 | c.6969C>A (p.Arg2323=) c.702C>A (p.Arg234=) c.564C>A (p.Arg188=) c.6864C>A (p.Arg2288=) | |
| X | g.154837685C>A | CA414897232 | F8 | c.6968G>T (p.Arg2323Leu) c.701G>T (p.Arg234Leu) c.563G>T (p.Arg188Leu) c.6863G>T (p.Arg2288Leu) | |
| X | g.154837685C= | CA2466807440 | F8 | c.6968G= (p.Arg2323=) c.701G= (p.Arg234=) c.563G= (p.Arg188=) c.6863G= (p.Arg2288=) | |
| X | g.154837685C>G | CA414897240 | F8 | c.6968G>C (p.Arg2323Pro) c.701G>C (p.Arg234Pro) c.563G>C (p.Arg188Pro) c.6863G>C (p.Arg2288Pro) | ClinVar dbSNP |
| X | g.154837685C>T | CA255226 | F8 | c.6968G>A (p.Arg2323His) c.701G>A (p.Arg234His) c.563G>A (p.Arg188His) c.6863G>A (p.Arg2288His) | ClinVar dbSNP |
| X | g.154837686G>A | CA255225 | F8 | c.6967C>T (p.Arg2323Cys) c.700C>T (p.Arg234Cys) c.562C>T (p.Arg188Cys) c.6862C>T (p.Arg2288Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837686G>C | CA414897249 | F8 | c.6967C>G (p.Arg2323Gly) c.700C>G (p.Arg234Gly) c.562C>G (p.Arg188Gly) c.6862C>G (p.Arg2288Gly) | ClinVar dbSNP |
| X | g.154837686G= | CA2466807441 | F8 | c.6967C= (p.Arg2323=) c.700C= (p.Arg234=) c.562C= (p.Arg188=) c.6862C= (p.Arg2288=) | |
| X | g.154837686G>T | CA414897252 | F8 | c.6967C>A (p.Arg2323Ser) c.700C>A (p.Arg234Ser) c.562C>A (p.Arg188Ser) c.6862C>A (p.Arg2288Ser) | |
| X | g.154837687A= | CA2466807442 | F8 | c.6966T= (p.Thr2322=) c.699T= (p.Thr233=) c.561T= (p.Thr187=) c.6861T= (p.Thr2287=) | |
| X | g.154837687A>C | CA519355265 | F8 | c.6966T>G (p.Thr2322=) c.699T>G (p.Thr233=) c.561T>G (p.Thr187=) c.6861T>G (p.Thr2287=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837687A>G | CA519355266 | F8 | c.6966T>C (p.Thr2322=) c.699T>C (p.Thr233=) c.561T>C (p.Thr187=) c.6861T>C (p.Thr2287=) | |
| X | g.154837687A>T | CA519355267 | F8 | c.6966T>A (p.Thr2322=) c.699T>A (p.Thr233=) c.561T>A (p.Thr187=) c.6861T>A (p.Thr2287=) | |
| X | g.154837690_154837693dup | CA2695237112 | F8 | c.6963_6966dup (p.Arg2323AspfsTer?) c.696_699dup (p.Arg234AspfsTer?) c.558_561dup (p.Arg188AspfsTer?) c.6858_6861dup (p.Arg2288AspfsTer?) | |
| X | g.154837688G>A | CA414897256 | F8 | c.6965C>T (p.Thr2322Ile) c.698C>T (p.Thr233Ile) c.560C>T (p.Thr187Ile) c.6860C>T (p.Thr2287Ile) | |
| X | g.154837688G>C | CA414897260 | F8 | c.6965C>G (p.Thr2322Ser) c.698C>G (p.Thr233Ser) c.560C>G (p.Thr187Ser) c.6860C>G (p.Thr2287Ser) | |
| X | g.154837688G= | CA2466807443 | F8 | c.6965C= (p.Thr2322=) c.698C= (p.Thr233=) c.560C= (p.Thr187=) c.6860C= (p.Thr2287=) |