Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154837568_154837582dup | CA2695167393 | F8 | c.*16_*30dup (n.*16_*30dup) | gnomAD v4 |
X | g.154837577_154837772del | CA915940534 | F8 | c.6901-20_*20del c.634-20_*20del c.496-20_*20del c.6796-20_*20del | |
X | g.154837579_154837586delinsGTGCTGCA | CA2466807405 | F8 | c.*11_*18delinsTGCAGCAC (n.*11_*18delinsTGCAGCAC) | |
X | g.154837580T>C | CA2695167404 | F8 | c.*17A>G (n.*17A>G) | gnomAD v4 |
X | g.154837580T>G | CA10567720 | F8 | c.*17A>C (n.*17A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154837580T= | CA2466807406 | F8 | c.*17A= (n.*17A=) | |
X | g.154837583_154837585dup | CA873360743 | F8 | c.*15_*17dup (n.*15_*17dup) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154837580_154837586del | CA645237052 | F8 | c.*11_*17del (n.*11_*17del) | dbSNP gnomAD v2 |
X | g.154837581G>T | CA2695167405 | F8 | c.*16C>A (n.*16C>A) | gnomAD v4 |
X | g.154837582C= | CA2466807407 | F8 | c.*15G= (n.*15G=) | |
X | g.154837582C>G | CA645237053 | F8 | c.*15G>C (n.*15G>C) | dbSNP gnomAD v2 |
X | g.154837582C>T | CA2579744056 | F8 | c.*15G>A (n.*15G>A) | gnomAD v4 |
X | g.154837583T>G | CA645237054 | F8 | c.*14A>C (n.*14A>C) | dbSNP gnomAD v2 |
X | g.154837583T= | CA2466807408 | F8 | c.*14A= (n.*14A=) | |
X | g.154837584G>A | CA645237055 | F8 | c.*13C>T (n.*13C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154837584G= | CA2466807409 | F8 | c.*13C= (n.*13C=) | |
X | g.154837585dup | CA2695167406 | F8 | c.*12dup (n.*12dup) | gnomAD v4 |
X | g.154837586A= | CA2466807410 | F8 | c.*11T= (n.*11T=) | |
X | g.154837586A>C | CA645237056 | F8 | c.*11T>G (n.*11T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154837588T>A | CA645237057 | F8 | c.*9A>T (n.*9A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154837588T>G | CA645237058 | F8 | c.*9A>C (n.*9A>C) | dbSNP gnomAD v2 |
X | g.154837588T= | CA2466807411 | F8 | c.*9A= (n.*9A=) | |
X | g.154837590G>A | CA2695167407 | F8 | c.*7C>T (n.*7C>T) | gnomAD v4 |
X | g.154837591C= | CA2466807412 | F8 | c.*6G= (n.*6G=) | |
X | g.154837591C>T | CA873360746 | F8 | c.*6G>A (n.*6G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154837592C>A | CA2466807414 | F8 | c.*5G>T (n.*5G>T) | dbSNP |
X | g.154837592C= | CA2466807413 | F8 | c.*5G= (n.*5G=) | |
X | g.154837592C>T | CA645237059 | F8 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154837594C>G | CA2695167408 | F8 | c.*3G>C (n.*3G>C) | gnomAD v4 |
X | g.154837595C= | CA2466807415 | F8 | c.*2G= (n.*2G=) | |
X | g.154837595C>G | CA519355152 | F8 | c.*2G>C (n.*2G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154837596C>A | CA2695167409 | F8 | c.*1G>T (n.*1G>T) | gnomAD v4 |
X | g.154837597T>A | CA414896481 | F8 | c.7056A>T (p.Ter2352Cys) c.789A>T (p.Ter263Cys) c.651A>T (p.Ter217Cys) c.6951A>T (p.Ter2317Cys) | |
X | g.154837597T>C | CA414896496 | F8 | c.7056A>G (p.Ter2352Trp) c.789A>G (p.Ter263Trp) c.651A>G (p.Ter217Trp) c.6951A>G (p.Ter2317Trp) | |
X | g.154837597T>G | CA414896501 | F8 | c.7056A>C (p.Ter2352Cys) c.789A>C (p.Ter263Cys) c.651A>C (p.Ter217Cys) c.6951A>C (p.Ter2317Cys) | |
X | g.154837598C>A | CA414896505 | F8 | c.7055G>T (p.Ter2352Leu) c.788G>T (p.Ter263Leu) c.650G>T (p.Ter217Leu) c.6950G>T (p.Ter2317Leu) | |
X | g.154837598C>G | CA414896509 | F8 | c.7055G>C (p.Ter2352Ser) c.788G>C (p.Ter263Ser) c.650G>C (p.Ter217Ser) c.6950G>C (p.Ter2317Ser) | |
X | g.154837598C>T | CA519355156 | F8 | c.7055G>A (p.Ter2352=) c.788G>A (p.Ter263=) c.650G>A (p.Ter217=) c.6950G>A (p.Ter2317=) | |
X | g.154837599del | CA2695237101 | F8 | c.7054del (p.Ter2352GluextTer?) c.787del (p.Ter263GluextTer?) c.649del (p.Ter217GluextTer?) c.6949del (p.Ter2317GluextTer?) | |
X | g.154837599A= | CA2466807416 | F8 | c.7054T= (p.Ter2352=) c.787T= (p.Ter263=) c.649T= (p.Ter217=) c.6949T= (p.Ter2317=) | |
X | g.154837599A>C | CA414896512 | F8 | c.7054T>G (p.Ter2352Gly) c.787T>G (p.Ter263Gly) c.649T>G (p.Ter217Gly) c.6949T>G (p.Ter2317Gly) | |
X | g.154837599A>G | CA414896515 | F8 | c.7054T>C (p.Ter2352Arg) c.787T>C (p.Ter263Arg) c.649T>C (p.Ter217Arg) c.6949T>C (p.Ter2317Arg) | dbSNP |
X | g.154837599A>T | CA414896519 | F8 | c.7054T>A (p.Ter2352Arg) c.787T>A (p.Ter263Arg) c.649T>A (p.Ter217Arg) c.6949T>A (p.Ter2317Arg) | |
X | g.154837600G>A | CA519355157 | F8 | c.7053C>T (p.Tyr2351=) c.786C>T (p.Tyr262=) c.648C>T (p.Tyr216=) c.6948C>T (p.Tyr2316=) | |
X | g.154837600G>C | CA414896520 | F8 | c.7053C>G (p.Tyr2351Ter) c.786C>G (p.Tyr262Ter) c.648C>G (p.Tyr216Ter) c.6948C>G (p.Tyr2316Ter) | |
X | g.154837600G>T | CA414896521 | F8 | c.7053C>A (p.Tyr2351Ter) c.786C>A (p.Tyr262Ter) c.648C>A (p.Tyr216Ter) c.6948C>A (p.Tyr2316Ter) | |
X | g.154837601T>A | CA414896542 | F8 | c.7052A>T (p.Tyr2351Phe) c.785A>T (p.Tyr262Phe) c.647A>T (p.Tyr216Phe) c.6947A>T (p.Tyr2316Phe) | |
X | g.154837601T>C | CA414896538 | F8 | c.7052A>G (p.Tyr2351Cys) c.785A>G (p.Tyr262Cys) c.647A>G (p.Tyr216Cys) c.6947A>G (p.Tyr2316Cys) | |
X | g.154837601T>G | CA414896522 | F8 | c.7052A>C (p.Tyr2351Ser) c.785A>C (p.Tyr262Ser) c.647A>C (p.Tyr216Ser) c.6947A>C (p.Tyr2316Ser) | |
X | g.154837602A>C | CA414896543 | F8 | c.7051T>G (p.Tyr2351Asp) c.784T>G (p.Tyr262Asp) c.646T>G (p.Tyr216Asp) c.6946T>G (p.Tyr2316Asp) |