| 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.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.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=) | |
| X | g.154837688G>T | CA414897299 | F8 | c.6965C>A (p.Thr2322Asn) c.698C>A (p.Thr233Asn) c.560C>A (p.Thr187Asn) c.6860C>A (p.Thr2287Asn) | dbSNP |
| X | g.154837689T>A | CA414897313 | F8 | c.6964A>T (p.Thr2322Ser) c.697A>T (p.Thr233Ser) c.559A>T (p.Thr187Ser) c.6859A>T (p.Thr2287Ser) | |
| X | g.154837689T>C | CA414897308 | F8 | c.6964A>G (p.Thr2322Ala) c.697A>G (p.Thr233Ala) c.559A>G (p.Thr187Ala) c.6859A>G (p.Thr2287Ala) | |
| X | g.154837689T>G | CA414897306 | F8 | c.6964A>C (p.Thr2322Pro) c.697A>C (p.Thr233Pro) c.559A>C (p.Thr187Pro) c.6859A>C (p.Thr2287Pro) | |
| X | g.154837690C>A | CA519355269 | F8 | c.6963G>T (p.Leu2321=) c.696G>T (p.Leu232=) c.558G>T (p.Leu186=) c.6858G>T (p.Leu2286=) | |
| X | g.154837690C>G | CA519355270 | F8 | c.6963G>C (p.Leu2321=) c.696G>C (p.Leu232=) c.558G>C (p.Leu186=) c.6858G>C (p.Leu2286=) | |
| X | g.154837690C>T | CA519355271 | F8 | c.6963G>A (p.Leu2321=) c.696G>A (p.Leu232=) c.558G>A (p.Leu186=) c.6858G>A (p.Leu2286=) | |
| X | g.154837691A>C | CA414897317 | F8 | c.6962T>G (p.Leu2321Arg) c.695T>G (p.Leu232Arg) c.557T>G (p.Leu186Arg) c.6857T>G (p.Leu2286Arg) | |
| X | g.154837691A>G | CA414897321 | F8 | c.6962T>C (p.Leu2321Pro) c.695T>C (p.Leu232Pro) c.557T>C (p.Leu186Pro) c.6857T>C (p.Leu2286Pro) | |
| X | g.154837691A>T | CA414897324 | F8 | c.6962T>A (p.Leu2321Gln) c.695T>A (p.Leu232Gln) c.557T>A (p.Leu186Gln) c.6857T>A (p.Leu2286Gln) | |
| X | g.154837692G>A | CA519355273 | F8 | c.6961C>T (p.Leu2321=) c.694C>T (p.Leu232=) c.556C>T (p.Leu186=) c.6856C>T (p.Leu2286=) | |
| X | g.154837692G>C | CA414897326 | F8 | c.6961C>G (p.Leu2321Val) c.694C>G (p.Leu232Val) c.556C>G (p.Leu186Val) c.6856C>G (p.Leu2286Val) | |
| X | g.154837692G>T | CA414897329 | F8 | c.6961C>A (p.Leu2321Met) c.694C>A (p.Leu232Met) c.556C>A (p.Leu186Met) c.6856C>A (p.Leu2286Met) | |
| X | g.154837693T>A | CA414897334 | F8 | c.6960A>T (p.Leu2320Phe) c.693A>T (p.Leu231Phe) c.555A>T (p.Leu185Phe) c.6855A>T (p.Leu2285Phe) | |
| X | g.154837693T>C | CA519355274 | F8 | c.6960A>G (p.Leu2320=) c.693A>G (p.Leu231=) c.555A>G (p.Leu185=) c.6855A>G (p.Leu2285=) | |
| X | g.154837693T>G | CA414897335 | F8 | c.6960A>C (p.Leu2320Phe) c.693A>C (p.Leu231Phe) c.555A>C (p.Leu185Phe) c.6855A>C (p.Leu2285Phe) | |
| X | g.154837694A>C | CA414897339 | F8 | c.6959T>G (p.Leu2320Ter) c.692T>G (p.Leu231Ter) c.554T>G (p.Leu185Ter) c.6854T>G (p.Leu2285Ter) | ClinVar dbSNP |
| X | g.154837694A>G | CA414897342 | F8 | c.6959T>C (p.Leu2320Ser) c.692T>C (p.Leu231Ser) c.554T>C (p.Leu185Ser) c.6854T>C (p.Leu2285Ser) | |
| X | g.154837694A>T | CA414897345 | F8 | c.6959T>A (p.Leu2320Ter) c.692T>A (p.Leu231Ter) c.554T>A (p.Leu185Ter) c.6854T>A (p.Leu2285Ter) | |
| X | g.154837695A= | CA2466807444 | F8 | c.6958T= (p.Leu2320=) c.691T= (p.Leu231=) c.553T= (p.Leu185=) c.6853T= (p.Leu2285=) | |
| X | g.154837695A>C | CA414897348 | F8 | c.6958T>G (p.Leu2320Val) c.691T>G (p.Leu231Val) c.553T>G (p.Leu185Val) c.6853T>G (p.Leu2285Val) | |
| X | g.154837695A>G | CA337319404 | F8 | c.6958T>C (p.Leu2320=) c.691T>C (p.Leu231=) c.553T>C (p.Leu185=) c.6853T>C (p.Leu2285=) | dbSNP |
| X | g.154837695A>T | CA414897351 | F8 | c.6958T>A (p.Leu2320Ile) c.691T>A (p.Leu231Ile) c.553T>A (p.Leu185Ile) c.6853T>A (p.Leu2285Ile) | |
| X | g.154837696C>A | CA519355277 | F8 | c.6957G>T (p.Pro2319=) c.690G>T (p.Pro230=) c.552G>T (p.Pro184=) c.6852G>T (p.Pro2284=) | |
| X | g.154837696C= | CA2466807445 | F8 | c.6957G= (p.Pro2319=) c.690G= (p.Pro230=) c.552G= (p.Pro184=) c.6852G= (p.Pro2284=) | |
| X | g.154837696C>G | CA519355279 | F8 | c.6957G>C (p.Pro2319=) c.690G>C (p.Pro230=) c.552G>C (p.Pro184=) c.6852G>C (p.Pro2284=) | |
| X | g.154837696C>T | CA10567726 | F8 | c.6957G>A (p.Pro2319=) c.690G>A (p.Pro230=) c.552G>A (p.Pro184=) c.6852G>A (p.Pro2284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154837697G>A | CA255224 | F8 | c.6956C>T (p.Pro2319Leu) c.689C>T (p.Pro230Leu) c.551C>T (p.Pro184Leu) c.6851C>T (p.Pro2284Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.154837697G>C | CA414897362 | F8 | c.6956C>G (p.Pro2319Arg) c.689C>G (p.Pro230Arg) c.551C>G (p.Pro184Arg) c.6851C>G (p.Pro2284Arg) | dbSNP COSMIC COSMIC |
| X | g.154837697G= | CA2466807446 | F8 | c.6956C= (p.Pro2319=) c.689C= (p.Pro230=) c.551C= (p.Pro184=) c.6851C= (p.Pro2284=) | |
| X | g.154837697G>T | CA414897365 | F8 | c.6956C>A (p.Pro2319Gln) c.689C>A (p.Pro230Gln) c.551C>A (p.Pro184Gln) c.6851C>A (p.Pro2284Gln) | |
| X | g.154837698dup | CA873360978 | F8 | c.6956dup (p.Leu2320ValfsTer?) c.689dup (p.Leu231ValfsTer?) c.551dup (p.Leu185ValfsTer?) c.6851dup (p.Leu2285ValfsTer?) | ClinVar dbSNP |
| X | g.154837700_154837703dup | CA2695237113 | F8 | c.6953_6956dup (p.Leu2320ThrfsTer?) c.686_689dup (p.Leu231ThrfsTer?) c.548_551dup (p.Leu185ThrfsTer?) c.6848_6851dup (p.Leu2285ThrfsTer?) | |
| X | g.154837698G>A | CA255041 | F8 | c.6955C>T (p.Pro2319Ser) c.688C>T (p.Pro230Ser) c.550C>T (p.Pro184Ser) c.6850C>T (p.Pro2284Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837698G>C | CA414897373 | F8 | c.6955C>G (p.Pro2319Ala) c.688C>G (p.Pro230Ala) c.550C>G (p.Pro184Ala) c.6850C>G (p.Pro2284Ala) | |
| X | g.154837698G= | CA2466807447 | F8 | c.6955C= (p.Pro2319=) c.688C= (p.Pro230=) c.550C= (p.Pro184=) c.6850C= (p.Pro2284=) | |
| X | g.154837698G>T | CA414897376 | F8 | c.6955C>A (p.Pro2319Thr) c.688C>A (p.Pro230Thr) c.550C>A (p.Pro184Thr) c.6850C>A (p.Pro2284Thr) | |
| X | g.154837699T>A | CA519355280 | F8 | c.6954A>T (p.Pro2318=) c.687A>T (p.Pro229=) c.549A>T (p.Pro183=) c.6849A>T (p.Pro2283=) | |
| X | g.154837699T>C | CA519355282 | F8 | c.6954A>G (p.Pro2318=) c.687A>G (p.Pro229=) c.549A>G (p.Pro183=) c.6849A>G (p.Pro2283=) | |
| X | g.154837699T>G | CA519355281 | F8 | c.6954A>C (p.Pro2318=) c.687A>C (p.Pro229=) c.549A>C (p.Pro183=) c.6849A>C (p.Pro2283=) |