| 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.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) | |
| X | g.154837602A>G | CA414896545 | F8 | c.7051T>C (p.Tyr2351His) c.784T>C (p.Tyr262His) c.646T>C (p.Tyr216His) c.6946T>C (p.Tyr2316His) | |
| X | g.154837602A>T | CA414896547 | F8 | c.7051T>A (p.Tyr2351Asn) c.784T>A (p.Tyr262Asn) c.646T>A (p.Tyr216Asn) c.6946T>A (p.Tyr2316Asn) | |
| X | g.154837603G>A | CA519355160 | F8 | c.7050C>T (p.Leu2350=) c.783C>T (p.Leu261=) c.645C>T (p.Leu215=) c.6945C>T (p.Leu2315=) | COSMIC COSMIC |
| X | g.154837603G>C | CA519355161 | F8 | c.7050C>G (p.Leu2350=) c.783C>G (p.Leu261=) c.645C>G (p.Leu215=) c.6945C>G (p.Leu2315=) | |
| X | g.154837603G>T | CA519355162 | F8 | c.7050C>A (p.Leu2350=) c.783C>A (p.Leu261=) c.645C>A (p.Leu215=) c.6945C>A (p.Leu2315=) | |
| X | g.154837604A= | CA2466807417 | F8 | c.7049T= (p.Leu2350=) c.782T= (p.Leu261=) c.644T= (p.Leu215=) c.6944T= (p.Leu2315=) | |
| X | g.154837604A>C | CA414896548 | F8 | c.7049T>G (p.Leu2350Arg) c.782T>G (p.Leu261Arg) c.644T>G (p.Leu215Arg) c.6944T>G (p.Leu2315Arg) | dbSNP gnomAD v2 |
| X | g.154837604A>G | CA414896549 | F8 | c.7049T>C (p.Leu2350Pro) c.782T>C (p.Leu261Pro) c.644T>C (p.Leu215Pro) c.6944T>C (p.Leu2315Pro) | |
| X | g.154837604A>T | CA414896551 | F8 | c.7049T>A (p.Leu2350His) c.782T>A (p.Leu261His) c.644T>A (p.Leu215His) c.6944T>A (p.Leu2315His) | |
| X | g.154837605G>A | CA414896554 | F8 | c.7048C>T (p.Leu2350Phe) c.781C>T (p.Leu261Phe) c.643C>T (p.Leu215Phe) c.6943C>T (p.Leu2315Phe) | |
| X | g.154837605G>C | CA414896557 | F8 | c.7048C>G (p.Leu2350Val) c.781C>G (p.Leu261Val) c.643C>G (p.Leu215Val) c.6943C>G (p.Leu2315Val) | |
| X | g.154837605G>T | CA414896560 | F8 | c.7048C>A (p.Leu2350Ile) c.781C>A (p.Leu261Ile) c.643C>A (p.Leu215Ile) c.6943C>A (p.Leu2315Ile) | |
| X | g.154837606G>A | CA519355163 | F8 | c.7047C>T (p.Asp2349=) c.780C>T (p.Asp260=) c.642C>T (p.Asp214=) c.6942C>T (p.Asp2314=) | gnomAD v4 |
| X | g.154837606G>C | CA414896568 | F8 | c.7047C>G (p.Asp2349Glu) c.780C>G (p.Asp260Glu) c.642C>G (p.Asp214Glu) c.6942C>G (p.Asp2314Glu) | |
| X | g.154837606G>T | CA414896570 | F8 | c.7047C>A (p.Asp2349Glu) c.780C>A (p.Asp260Glu) c.642C>A (p.Asp214Glu) c.6942C>A (p.Asp2314Glu) | |
| X | g.154837607T>A | CA414896579 | F8 | c.7046A>T (p.Asp2349Val) c.779A>T (p.Asp260Val) c.641A>T (p.Asp214Val) c.6941A>T (p.Asp2314Val) | |
| X | g.154837607T>C | CA414896573 | F8 | c.7046A>G (p.Asp2349Gly) c.779A>G (p.Asp260Gly) c.641A>G (p.Asp214Gly) c.6941A>G (p.Asp2314Gly) | |
| X | g.154837607T>G | CA414896577 | F8 | c.7046A>C (p.Asp2349Ala) c.779A>C (p.Asp260Ala) c.641A>C (p.Asp214Ala) c.6941A>C (p.Asp2314Ala) | gnomAD v4 |
| X | g.154837608C>A | CA414896585 | F8 | c.7045G>T (p.Asp2349Tyr) c.778G>T (p.Asp260Tyr) c.640G>T (p.Asp214Tyr) c.6940G>T (p.Asp2314Tyr) | |
| X | g.154837608C>G | CA414896588 | F8 | c.7045G>C (p.Asp2349His) c.778G>C (p.Asp260His) c.640G>C (p.Asp214His) c.6940G>C (p.Asp2314His) | |
| X | g.154837608C>T | CA414896592 | F8 | c.7045G>A (p.Asp2349Asn) c.778G>A (p.Asp260Asn) c.640G>A (p.Asp214Asn) c.6940G>A (p.Asp2314Asn) | |
| X | g.154837609C>A | CA414896593 | F8 | c.7044G>T (p.Gln2348His) c.777G>T (p.Gln259His) c.639G>T (p.Gln213His) c.6939G>T (p.Gln2313His) | |
| X | g.154837609C>G | CA414896594 | F8 | c.7044G>C (p.Gln2348His) c.777G>C (p.Gln259His) c.639G>C (p.Gln213His) c.6939G>C (p.Gln2313His) | |
| X | g.154837609C>T | CA519355168 | F8 | c.7044G>A (p.Gln2348=) c.777G>A (p.Gln259=) c.639G>A (p.Gln213=) c.6939G>A (p.Gln2313=) | |
| X | g.154837610T>A | CA414896596 | F8 | c.7043A>T (p.Gln2348Leu) c.776A>T (p.Gln259Leu) c.638A>T (p.Gln213Leu) c.6938A>T (p.Gln2313Leu) | |
| X | g.154837610T>C | CA414896599 | F8 | c.7043A>G (p.Gln2348Arg) c.776A>G (p.Gln259Arg) c.638A>G (p.Gln213Arg) c.6938A>G (p.Gln2313Arg) | |
| X | g.154837610T>G | CA414896602 | F8 | c.7043A>C (p.Gln2348Pro) c.776A>C (p.Gln259Pro) c.638A>C (p.Gln213Pro) c.6938A>C (p.Gln2313Pro) | |
| X | g.154837611G>A | CA414896606 | F8 | c.7042C>T (p.Gln2348Ter) c.775C>T (p.Gln259Ter) c.637C>T (p.Gln213Ter) c.6937C>T (p.Gln2313Ter) | |
| X | g.154837611G>C | CA414896610 | F8 | c.7042C>G (p.Gln2348Glu) c.775C>G (p.Gln259Glu) c.637C>G (p.Gln213Glu) c.6937C>G (p.Gln2313Glu) | |
| X | g.154837611G>T | CA414896613 | F8 | c.7042C>A (p.Gln2348Lys) c.775C>A (p.Gln259Lys) c.637C>A (p.Gln213Lys) c.6937C>A (p.Gln2313Lys) | |
| X | g.154837612T>A | CA519355169 | F8 | c.7041A>T (p.Ala2347=) c.774A>T (p.Ala258=) c.636A>T (p.Ala212=) c.6936A>T (p.Ala2312=) |