UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154996990T>A | CA414919905 | F8 | c.371A>T (p.Tyr124Phe) c.*157A>T (n.*157A>T) c.266A>T (p.Tyr89Phe) c.353A>T (p.Tyr118Phe) | |
| X | g.154996990T>C | CA414919906 | F8 | c.371A>G (p.Tyr124Cys) c.*157A>G (n.*157A>G) c.266A>G (p.Tyr89Cys) c.353A>G (p.Tyr118Cys) | |
| X | g.154996990T>G | CA414919907 | F8 | c.371A>C (p.Tyr124Ser) c.*157A>C (n.*157A>C) c.266A>C (p.Tyr89Ser) c.353A>C (p.Tyr118Ser) | |
| X | g.154996991A>C | CA414919910 | F8 | c.370T>G (p.Tyr124Asp) c.*156T>G (n.*156T>G) c.265T>G (p.Tyr89Asp) c.352T>G (p.Tyr118Asp) | |
| X | g.154996991A>G | CA414919908 | F8 | c.370T>C (p.Tyr124His) c.*156T>C (n.*156T>C) c.265T>C (p.Tyr89His) c.352T>C (p.Tyr118His) | COSMIC COSMIC |
| X | g.154996991A>T | CA414919909 | F8 | c.370T>A (p.Tyr124Asn) c.*156T>A (n.*156T>A) c.265T>A (p.Tyr89Asn) c.352T>A (p.Tyr118Asn) | |
| X | g.154996992G>A | CA519384099 | F8 | c.369C>T (p.Ser123=) c.*155C>T (n.*155C>T) c.264C>T (p.Ser88=) c.351C>T (p.Ser117=) | |
| X | g.154996992G>C | CA519384100 | F8 | c.369C>G (p.Ser123=) c.*155C>G (n.*155C>G) c.264C>G (p.Ser88=) c.351C>G (p.Ser117=) | |
| X | g.154996992G>T | CA519384101 | F8 | c.369C>A (p.Ser123=) c.*155C>A (n.*155C>A) c.264C>A (p.Ser88=) c.351C>A (p.Ser117=) | |
| X | g.154996993G>A | CA414919911 | F8 | c.368C>T (p.Ser123Phe) c.*154C>T (n.*154C>T) c.263C>T (p.Ser88Phe) c.350C>T (p.Ser117Phe) | |
| X | g.154996993G>C | CA414919913 | F8 | c.368C>G (p.Ser123Cys) c.*154C>G (n.*154C>G) c.263C>G (p.Ser88Cys) c.350C>G (p.Ser117Cys) | |
| X | g.154996993G>T | CA414919912 | F8 | c.368C>A (p.Ser123Tyr) c.*154C>A (n.*154C>A) c.263C>A (p.Ser88Tyr) c.350C>A (p.Ser117Tyr) | |
| X | g.154996994A>C | CA414919914 | F8 | c.367T>G (p.Ser123Ala) c.*153T>G (n.*153T>G) c.262T>G (p.Ser88Ala) c.349T>G (p.Ser117Ala) | |
| X | g.154996994A>G | CA414919916 | F8 | c.367T>C (p.Ser123Pro) c.*153T>C (n.*153T>C) c.262T>C (p.Ser88Pro) c.349T>C (p.Ser117Pro) | |
| X | g.154996994A>T | CA414919915 | F8 | c.367T>A (p.Ser123Thr) c.*153T>A (n.*153T>A) c.262T>A (p.Ser88Thr) c.349T>A (p.Ser117Thr) | |
| X | g.154996995T>A | CA519384102 | F8 | c.366A>T (p.Val122=) c.*152A>T (n.*152A>T) c.261A>T (p.Val87=) c.348A>T (p.Val116=) | |
| X | g.154996995T>C | CA519384103 | F8 | c.366A>G (p.Val122=) c.*152A>G (n.*152A>G) c.261A>G (p.Val87=) c.348A>G (p.Val116=) | |
| X | g.154996995T>G | CA519384104 | F8 | c.366A>C (p.Val122=) c.*152A>C (n.*152A>C) c.261A>C (p.Val87=) c.348A>C (p.Val116=) | |
| X | g.154996995_154996997delinsTAC | CA2466857760 | F8 | c.364_366delinsGTA (p.Val122=) c.*150_*152delinsGTA (n.*150_*152delinsGTA) c.259_261delinsGTA (p.Val87=) c.346_348delinsGTA (p.Val116=) | |
| X | g.154996996A= | CA2466857761 | F8 | c.365T= (p.Val122=) c.*151T= (n.*151T=) c.260T= (p.Val87=) c.347T= (p.Val116=) | |
| X | g.154996996A>C | CA414919917 | F8 | c.365T>G (p.Val122Gly) c.*151T>G (n.*151T>G) c.260T>G (p.Val87Gly) c.347T>G (p.Val116Gly) | |
| X | g.154996996A>G | CA10568599 | F8 | c.365T>C (p.Val122Ala) c.*151T>C (n.*151T>C) c.260T>C (p.Val87Ala) c.347T>C (p.Val116Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154996996A>T | CA414919918 | F8 | c.365T>A (p.Val122Glu) c.*151T>A (n.*151T>A) c.260T>A (p.Val87Glu) c.347T>A (p.Val116Glu) | |
| X | g.154996998_154996999del | CA255051 | F8 | c.364_365del (p.Val122IlefsTer7) c.*150_*151del (n.*150_*151del) c.259_260del (p.Val87IlefsTer7) c.346_347del (p.Val116IlefsTer7) | ClinVar dbSNP |
| X | g.154996997C>A | CA414919919 | F8 | c.364G>T (p.Val122Leu) c.*150G>T (n.*150G>T) c.259G>T (p.Val87Leu) c.346G>T (p.Val116Leu) | |
| X | g.154996997C= | CA2466857762 | F8 | c.364G= (p.Val122=) c.*150G= (n.*150G=) c.259G= (p.Val87=) c.346G= (p.Val116=) | |
| X | g.154996997C>G | CA414919920 | F8 | c.364G>C (p.Val122Leu) c.*150G>C (n.*150G>C) c.259G>C (p.Val87Leu) c.346G>C (p.Val116Leu) | |
| X | g.154996997C>T | CA414919921 | F8 | c.364G>A (p.Val122Ile) c.*150G>A (n.*150G>A) c.259G>A (p.Val87Ile) c.346G>A (p.Val116Ile) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154996997delinsAA | CA2695238478 | F8 | c.364delinsTT (p.Val122PhefsTer8) c.*150delinsTT (n.*150delinsTT) c.259delinsTT (p.Val87PhefsTer8) c.346delinsTT (p.Val116PhefsTer8) | |
| X | g.154996998A>C | CA519384105 | F8 | c.363T>G (p.Gly121=) c.*149T>G (n.*149T>G) c.258T>G (p.Gly86=) c.345T>G (p.Gly115=) | |
| X | g.154996998A>G | CA519384107 | F8 | c.363T>C (p.Gly121=) c.*149T>C (n.*149T>C) c.258T>C (p.Gly86=) c.345T>C (p.Gly115=) | |
| X | g.154996998A>T | CA519384106 | F8 | c.363T>A (p.Gly121=) c.*149T>A (n.*149T>A) c.258T>A (p.Gly86=) c.345T>A (p.Gly115=) | |
| X | g.154996999C>A | CA414919922 | F8 | c.362G>T (p.Gly121Val) c.*148G>T (n.*148G>T) c.257G>T (p.Gly86Val) c.344G>T (p.Gly115Val) | |
| X | g.154996999C>G | CA414919923 | F8 | c.362G>C (p.Gly121Ala) c.*148G>C (n.*148G>C) c.257G>C (p.Gly86Ala) c.344G>C (p.Gly115Ala) | |
| X | g.154996999C>T | CA414919924 | F8 | c.362G>A (p.Gly121Asp) c.*148G>A (n.*148G>A) c.257G>A (p.Gly86Asp) c.344G>A (p.Gly115Asp) | |
| X | g.154997000C>A | CA414919927 | F8 | c.361G>T (p.Gly121Cys) c.*147G>T (n.*147G>T) c.256G>T (p.Gly86Cys) c.343G>T (p.Gly115Cys) | |
| X | g.154997000C>G | CA414919925 | F8 | c.361G>C (p.Gly121Arg) c.*147G>C (n.*147G>C) c.256G>C (p.Gly86Arg) c.343G>C (p.Gly115Arg) | |
| X | g.154997000C>T | CA414919926 | F8 | c.361G>A (p.Gly121Ser) c.*147G>A (n.*147G>A) c.256G>A (p.Gly86Ser) c.343G>A (p.Gly115Ser) | |
| X | g.154997000_154997001delinsCA | CA2466857763 | F8 | c.360_361delinsTG (p.Val120=) c.*146_*147delinsTG (n.*146_*147delinsTG) c.255_256delinsTG (p.Val85=) c.342_343delinsTG (p.Val114=) | |
| X | g.154997001A>C | CA519384108 | F8 | c.360T>G (p.Val120=) c.*146T>G (n.*146T>G) c.255T>G (p.Val85=) c.342T>G (p.Val114=) | |
| X | g.154997001A>G | CA519384109 | F8 | c.360T>C (p.Val120=) c.*146T>C (n.*146T>C) c.255T>C (p.Val85=) c.342T>C (p.Val114=) | |
| X | g.154997001A>T | CA519384110 | F8 | c.360T>A (p.Val120=) c.*146T>A (n.*146T>A) c.255T>A (p.Val85=) c.342T>A (p.Val114=) | |
| X | g.154997002del | CA873357517 | F8 | c.360del (p.Gly121ValfsTer?) c.*146del (n.*146del) c.255del (p.Gly86ValfsTer?) c.342del (p.Gly115ValfsTer?) | dbSNP |
| X | g.154997002A= | CA2466857764 | F8 | c.359T= (p.Val120=) c.*145T= (n.*145T=) c.254T= (p.Val85=) c.341T= (p.Val114=) | |
| X | g.154997002A>C | CA414919928 | F8 | c.359T>G (p.Val120Gly) c.*145T>G (n.*145T>G) c.254T>G (p.Val85Gly) c.341T>G (p.Val114Gly) | |
| X | g.154997002A>G | CA414919929 | F8 | c.359T>C (p.Val120Ala) c.*145T>C (n.*145T>C) c.254T>C (p.Val85Ala) c.341T>C (p.Val114Ala) | ClinVar dbSNP |
| X | g.154997002A>T | CA414919930 | F8 | c.359T>A (p.Val120Asp) c.*145T>A (n.*145T>A) c.254T>A (p.Val85Asp) c.341T>A (p.Val114Asp) | |
| X | g.154997003C>A | CA414919931 | F8 | c.358G>T (p.Val120Phe) c.*144G>T (n.*144G>T) c.253G>T (p.Val85Phe) c.340G>T (p.Val114Phe) | |
| X | g.154997003C>G | CA414919932 | F8 | c.358G>C (p.Val120Leu) c.*144G>C (n.*144G>C) c.253G>C (p.Val85Leu) c.340G>C (p.Val114Leu) | |
| X | g.154997003C>T | CA414919933 | F8 | c.358G>A (p.Val120Ile) c.*144G>A (n.*144G>A) c.253G>A (p.Val85Ile) c.340G>A (p.Val114Ile) |