| 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.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=) | |
| 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) | 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=) | |
| 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=) | |
| 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) | 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) | gnomAD v4 |
| 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=) | |
| X | g.154837706A>C | CA414897444 | F8 | c.6947T>G (p.Leu2316Arg) c.680T>G (p.Leu227Arg) c.542T>G (p.Leu181Arg) c.6842T>G (p.Leu2281Arg) | |
| X | g.154837706A>G | CA414897447 | F8 | c.6947T>C (p.Leu2316Pro) c.680T>C (p.Leu227Pro) c.542T>C (p.Leu181Pro) c.6842T>C (p.Leu2281Pro) | |
| X | g.154837706A>T | CA414897449 | F8 | c.6947T>A (p.Leu2316Gln) c.680T>A (p.Leu227Gln) c.542T>A (p.Leu181Gln) c.6842T>A (p.Leu2281Gln) | |
| X | g.154837706dup | CA2695237114 | F8 | c.6947dup (p.Asp2317ArgfsTer?) c.680dup (p.Asp228ArgfsTer?) c.542dup (p.Asp182ArgfsTer?) c.6842dup (p.Asp2282ArgfsTer?) | |
| X | g.154837707G>A | CA519355289 | F8 | c.6946C>T (p.Leu2316=) c.679C>T (p.Leu227=) c.541C>T (p.Leu181=) c.6841C>T (p.Leu2281=) | |
| X | g.154837707G>C | CA414897454 | F8 | c.6946C>G (p.Leu2316Val) c.679C>G (p.Leu227Val) c.541C>G (p.Leu181Val) c.6841C>G (p.Leu2281Val) | |
| X | g.154837707G>T | CA414897457 | F8 | c.6946C>A (p.Leu2316Ile) c.679C>A (p.Leu227Ile) c.541C>A (p.Leu181Ile) c.6841C>A (p.Leu2281Ile) | |
| X | g.154837708A= | CA2466807453 | F8 | c.6945T= (p.Ser2315=) c.678T= (p.Ser226=) c.540T= (p.Ser180=) c.6840T= (p.Ser2280=) | |
| X | g.154837708A>C | CA519355291 | F8 | c.6945T>G (p.Ser2315=) c.678T>G (p.Ser226=) c.540T>G (p.Ser180=) c.6840T>G (p.Ser2280=) | |
| X | g.154837708A>G | CA519355292 | F8 | c.6945T>C (p.Ser2315=) c.678T>C (p.Ser226=) c.540T>C (p.Ser180=) c.6840T>C (p.Ser2280=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154837708A>T | CA519355290 | F8 | c.6945T>A (p.Ser2315=) c.678T>A (p.Ser226=) c.540T>A (p.Ser180=) c.6840T>A (p.Ser2280=) | |
| X | g.154837709G>A | CA414897461 | F8 | c.6944C>T (p.Ser2315Phe) c.677C>T (p.Ser226Phe) c.539C>T (p.Ser180Phe) c.6839C>T (p.Ser2280Phe) | dbSNP gnomAD v4 |
| X | g.154837709G>C | CA414897464 | F8 | c.6944C>G (p.Ser2315Cys) c.677C>G (p.Ser226Cys) c.539C>G (p.Ser180Cys) c.6839C>G (p.Ser2280Cys) | |
| X | g.154837709G= | CA2466807454 | F8 | c.6944C= (p.Ser2315=) c.677C= (p.Ser226=) c.539C= (p.Ser180=) c.6839C= (p.Ser2280=) | |
| X | g.154837709G>T | CA414897467 | F8 | c.6944C>A (p.Ser2315Tyr) c.677C>A (p.Ser226Tyr) c.539C>A (p.Ser180Tyr) c.6839C>A (p.Ser2280Tyr) | |
| X | g.154837710A>C | CA414897486 | F8 | c.6943T>G (p.Ser2315Ala) c.676T>G (p.Ser226Ala) c.538T>G (p.Ser180Ala) c.6838T>G (p.Ser2280Ala) | |
| X | g.154837710A>G | CA414897473 | F8 | c.6943T>C (p.Ser2315Pro) c.676T>C (p.Ser226Pro) c.538T>C (p.Ser180Pro) c.6838T>C (p.Ser2280Pro) |