| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154835791_154837753del | CA3260674290 | F8 | c.496-1_*1806del c.6796-1_*1806del | |
| X | g.154837577_154837772del | CA915940534 | F8 | c.6901-20_*20del c.634-20_*20del c.496-20_*20del c.6796-20_*20del | |
| 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=) | dbSNP |
| 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=) | dbSNP |
| 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=) | dbSNP |
| 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=) | dbSNP |
| 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=) | |
| X | g.154837699_154837700delinsTG | CA2466807448 | F8 | c.6953_6954delinsCA (p.Pro2318=) c.686_687delinsCA (p.Pro229=) c.548_549delinsCA (p.Pro183=) c.6848_6849delinsCA (p.Pro2283=) | |
| X | g.154837700G>A | CA414897382 | F8 | c.6953C>T (p.Pro2318Leu) c.686C>T (p.Pro229Leu) c.548C>T (p.Pro183Leu) c.6848C>T (p.Pro2283Leu) | |
| X | g.154837700G>C | CA414897385 | F8 | c.6953C>G (p.Pro2318Arg) c.686C>G (p.Pro229Arg) c.548C>G (p.Pro183Arg) c.6848C>G (p.Pro2283Arg) | |
| X | g.154837700G>T | CA414897388 | F8 | c.6953C>A (p.Pro2318Gln) c.686C>A (p.Pro229Gln) c.548C>A (p.Pro183Gln) c.6848C>A (p.Pro2283Gln) | |
| X | g.154837702del | CA2466807449 | F8 | c.6953del (p.Pro2318HisfsTer4) c.686del (p.Pro229HisfsTer4) c.548del (p.Pro183HisfsTer4) c.6848del (p.Pro2283HisfsTer4) | dbSNP |
| X | g.154837701G>A | CA414897391 | F8 | c.6952C>T (p.Pro2318Ser) c.685C>T (p.Pro229Ser) c.547C>T (p.Pro183Ser) c.6847C>T (p.Pro2283Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154837701G>C | CA414897394 | F8 | c.6952C>G (p.Pro2318Ala) c.685C>G (p.Pro229Ala) c.547C>G (p.Pro183Ala) c.6847C>G (p.Pro2283Ala) | |
| X | g.154837701G= | CA2466807450 | F8 | c.6952C= (p.Pro2318=) c.685C= (p.Pro229=) c.547C= (p.Pro183=) c.6847C= (p.Pro2283=) | dbSNP |
| X | g.154837701G>T | CA414897398 | F8 | c.6952C>A (p.Pro2318Thr) c.685C>A (p.Pro229Thr) c.547C>A (p.Pro183Thr) c.6847C>A (p.Pro2283Thr) | |
| X | g.154837702G>A | CA519355286 | F8 | c.6951C>T (p.Asp2317=) c.684C>T (p.Asp228=) c.546C>T (p.Asp182=) c.6846C>T (p.Asp2282=) | |
| X | g.154837702G>C | CA10567727 | F8 | c.6951C>G (p.Asp2317Glu) c.684C>G (p.Asp228Glu) c.546C>G (p.Asp182Glu) c.6846C>G (p.Asp2282Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154837702G= | CA2466807451 | F8 | c.6951C= (p.Asp2317=) c.684C= (p.Asp228=) c.546C= (p.Asp182=) c.6846C= (p.Asp2282=) | dbSNP |
| X | g.154837702G>T | CA414897405 | F8 | c.6951C>A (p.Asp2317Glu) c.684C>A (p.Asp228Glu) c.546C>A (p.Asp182Glu) c.6846C>A (p.Asp2282Glu) | |
| X | g.154837703T>A | CA414897416 | F8 | c.6950A>T (p.Asp2317Val) c.683A>T (p.Asp228Val) c.545A>T (p.Asp182Val) c.6845A>T (p.Asp2282Val) | dbSNP gnomAD v4 |
| X | g.154837703T>C | CA414897409 | F8 | c.6950A>G (p.Asp2317Gly) c.683A>G (p.Asp228Gly) c.545A>G (p.Asp182Gly) c.6845A>G (p.Asp2282Gly) | |
| X | g.154837703T>G | CA414897413 | F8 | c.6950A>C (p.Asp2317Ala) c.683A>C (p.Asp228Ala) c.545A>C (p.Asp182Ala) c.6845A>C (p.Asp2282Ala) | dbSNP gnomAD v4 |
| X | g.154837703T= | CA3071460089 | F8 | c.6950A= (p.Asp2317=) c.683A= (p.Asp228=) c.545A= (p.Asp182=) c.6845A= (p.Asp2282=) | dbSNP |
| X | g.154837704C>A | CA414897420 | F8 | c.6949G>T (p.Asp2317Tyr) c.682G>T (p.Asp228Tyr) c.544G>T (p.Asp182Tyr) c.6844G>T (p.Asp2282Tyr) | |
| X | g.154837704C>G | CA414897422 | F8 | c.6949G>C (p.Asp2317His) c.682G>C (p.Asp228His) c.544G>C (p.Asp182His) c.6844G>C (p.Asp2282His) | |
| X | g.154837704C>T | CA414897426 | F8 | c.6949G>A (p.Asp2317Asn) c.682G>A (p.Asp228Asn) c.544G>A (p.Asp182Asn) c.6844G>A (p.Asp2282Asn) | |
| X | g.154837705T>A | CA519355287 | F8 | c.6948A>T (p.Leu2316=) c.681A>T (p.Leu227=) c.543A>T (p.Leu181=) c.6843A>T (p.Leu2281=) | |
| X | g.154837705T>C | CA10567728 | F8 | c.6948A>G (p.Leu2316=) c.681A>G (p.Leu227=) c.543A>G (p.Leu181=) c.6843A>G (p.Leu2281=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837705T>G | CA519355288 | F8 | c.6948A>C (p.Leu2316=) c.681A>C (p.Leu227=) c.543A>C (p.Leu181=) c.6843A>C (p.Leu2281=) | |
| X | g.154837705T= | CA2466807452 | F8 | c.6948A= (p.Leu2316=) c.681A= (p.Leu227=) c.543A= (p.Leu181=) c.6843A= (p.Leu2281=) | dbSNP |