| 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.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 |
| 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=) | dbSNP |
| 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) | ClinVar 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=) | dbSNP |
| 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) | |
| X | g.154837710A>T | CA414897483 | F8 | c.6943T>A (p.Ser2315Thr) c.676T>A (p.Ser226Thr) c.538T>A (p.Ser180Thr) c.6838T>A (p.Ser2280Thr) | |
| X | g.154837711G>A | CA519355294 | F8 | c.6942C>T (p.Asn2314=) c.675C>T (p.Asn225=) c.537C>T (p.Asn179=) c.6837C>T (p.Asn2279=) | |
| X | g.154837711G>C | CA10567729 | F8 | c.6942C>G (p.Asn2314Lys) c.675C>G (p.Asn225Lys) c.537C>G (p.Asn179Lys) c.6837C>G (p.Asn2279Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154837711G= | CA2466807455 | F8 | c.6942C= (p.Asn2314=) c.675C= (p.Asn225=) c.537C= (p.Asn179=) c.6837C= (p.Asn2279=) | dbSNP |
| X | g.154837711G>T | CA414897491 | F8 | c.6942C>A (p.Asn2314Lys) c.675C>A (p.Asn225Lys) c.537C>A (p.Asn179Lys) c.6837C>A (p.Asn2279Lys) | |
| X | g.154837712T>A | CA414897498 | F8 | c.6941A>T (p.Asn2314Ile) c.674A>T (p.Asn225Ile) c.536A>T (p.Asn179Ile) c.6836A>T (p.Asn2279Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.154837712T>C | CA414897501 | F8 | c.6941A>G (p.Asn2314Ser) c.674A>G (p.Asn225Ser) c.536A>G (p.Asn179Ser) c.6836A>G (p.Asn2279Ser) | |
| X | g.154837712T>G | CA414897504 | F8 | c.6941A>C (p.Asn2314Thr) c.674A>C (p.Asn225Thr) c.536A>C (p.Asn179Thr) c.6836A>C (p.Asn2279Thr) | |
| X | g.154837712T= | CA3071460103 | F8 | c.6941A= (p.Asn2314=) c.674A= (p.Asn225=) c.536A= (p.Asn179=) c.6836A= (p.Asn2279=) | dbSNP |
| X | g.154837713T>A | CA414897507 | F8 | c.6940A>T (p.Asn2314Tyr) c.673A>T (p.Asn225Tyr) c.535A>T (p.Asn179Tyr) c.6835A>T (p.Asn2279Tyr) | |
| X | g.154837713T>C | CA414897510 | F8 | c.6940A>G (p.Asn2314Asp) c.673A>G (p.Asn225Asp) c.535A>G (p.Asn179Asp) c.6835A>G (p.Asn2279Asp) | |
| X | g.154837713T>G | CA414897514 | F8 | c.6940A>C (p.Asn2314His) c.673A>C (p.Asn225His) c.535A>C (p.Asn179His) c.6835A>C (p.Asn2279His) | |
| X | g.154837714C>A | CA519355297 | F8 | c.6939G>T (p.Val2313=) c.672G>T (p.Val224=) c.534G>T (p.Val178=) c.6834G>T (p.Val2278=) | |
| X | g.154837714C>G | CA519355299 | F8 | c.6939G>C (p.Val2313=) c.672G>C (p.Val224=) c.534G>C (p.Val178=) c.6834G>C (p.Val2278=) | |
| X | g.154837714C>T | CA519355300 | F8 | c.6939G>A (p.Val2313=) c.672G>A (p.Val224=) c.534G>A (p.Val178=) c.6834G>A (p.Val2278=) | |
| X | g.154837715A>C | CA414897519 | F8 | c.6938T>G (p.Val2313Gly) c.671T>G (p.Val224Gly) c.533T>G (p.Val178Gly) c.6833T>G (p.Val2278Gly) | |
| X | g.154837715A>G | CA414897522 | F8 | c.6938T>C (p.Val2313Ala) c.671T>C (p.Val224Ala) c.533T>C (p.Val178Ala) c.6833T>C (p.Val2278Ala) | |
| X | g.154837715A>T | CA414897524 | F8 | c.6938T>A (p.Val2313Glu) c.671T>A (p.Val224Glu) c.533T>A (p.Val178Glu) c.6833T>A (p.Val2278Glu) | |
| X | g.154837716C>A | CA414897530 | F8 | c.6937G>T (p.Val2313Leu) c.670G>T (p.Val224Leu) c.532G>T (p.Val178Leu) c.6832G>T (p.Val2278Leu) | |
| X | g.154837716C= | CA3071460119 | F8 | c.6937G= (p.Val2313=) c.670G= (p.Val224=) c.532G= (p.Val178=) c.6832G= (p.Val2278=) | dbSNP |
| X | g.154837716C>G | CA414897548 | F8 | c.6937G>C (p.Val2313Leu) c.670G>C (p.Val224Leu) c.532G>C (p.Val178Leu) c.6832G>C (p.Val2278Leu) | |
| X | g.154837716C>T | CA414897533 | F8 | c.6937G>A (p.Val2313Met) c.670G>A (p.Val224Met) c.532G>A (p.Val178Met) c.6832G>A (p.Val2278Met) | dbSNP gnomAD v4 |
| X | g.154837717dup | CA3008560551 | F8 | c.6937dup (p.Val2313GlyfsTer?) c.670dup (p.Val224GlyfsTer?) c.532dup (p.Val178GlyfsTer?) c.6832dup (p.Val2278GlyfsTer?) | |
| X | g.154837717C>A | CA519355301 | F8 | c.6936G>T (p.Val2312=) c.669G>T (p.Val223=) c.531G>T (p.Val177=) c.6831G>T (p.Val2277=) |