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.154992934_154992938del | CA2695238438 | F8 | c.601+1_601+5del c.*387+1_*387+5del c.496+1_496+5del | |
| X | g.154992936del | CA2695238443 | F8 | c.601+1del c.*387+1del c.496+1del | |
| X | g.154992936C>A | CA414919365 | F8 | c.601G>T (p.Gly201Trp) c.*387G>T (n.*387G>T) c.496G>T (p.Gly166Trp) | |
| X | g.154992936C= | CA2466856491 | F8 | c.601G= (p.Gly201=) c.*387G= (n.*387G=) c.496G= (p.Gly166=) | |
| X | g.154992936C>G | CA414919363 | F8 | c.601G>C (p.Gly201Arg) c.*387G>C (n.*387G>C) c.496G>C (p.Gly166Arg) | |
| X | g.154992936C>T | CA414919364 | F8 | c.601G>A (p.Gly201Arg) c.*387G>A (n.*387G>A) c.496G>A (p.Gly166Arg) | ClinVar dbSNP |
| X | g.154992938_154992940del | CA2695238444 | F8 | c.599_601del (p.Glu200del) c.*385_*387del (n.*385_*387del) c.494_496del (p.Glu165del) | |
| X | g.154992937T>A | CA414919366 | F8 | c.600A>T (p.Glu200Asp) c.*386A>T (n.*386A>T) c.495A>T (p.Glu165Asp) | |
| X | g.154992937T>C | CA519371786 | F8 | c.600A>G (p.Glu200=) c.*386A>G (n.*386A>G) c.495A>G (p.Glu165=) | |
| X | g.154992937T>G | CA414919367 | F8 | c.600A>C (p.Glu200Asp) c.*386A>C (n.*386A>C) c.495A>C (p.Glu165Asp) | |
| X | g.154992938T>A | CA414919368 | F8 | c.599A>T (p.Glu200Val) c.*385A>T (n.*385A>T) c.494A>T (p.Glu165Val) | |
| X | g.154992938T>C | CA10568575 | F8 | c.599A>G (p.Glu200Gly) c.*385A>G (n.*385A>G) c.494A>G (p.Glu165Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154992938T>G | CA414919369 | F8 | c.599A>C (p.Glu200Ala) c.*385A>C (n.*385A>C) c.494A>C (p.Glu165Ala) | |
| X | g.154992938T= | CA2466856492 | F8 | c.599A= (p.Glu200=) c.*385A= (n.*385A=) c.494A= (p.Glu165=) | |
| X | g.154992939C>A | CA414919370 | F8 | c.598G>T (p.Glu200Ter) c.*384G>T (n.*384G>T) c.493G>T (p.Glu165Ter) | |
| X | g.154992939C>G | CA414919371 | F8 | c.598G>C (p.Glu200Gln) c.*384G>C (n.*384G>C) c.493G>C (p.Glu165Gln) | |
| X | g.154992939C>T | CA414919372 | F8 | c.598G>A (p.Glu200Lys) c.*384G>A (n.*384G>A) c.493G>A (p.Glu165Lys) | |
| X | g.154992940T>A | CA414919373 | F8 | c.597A>T (p.Arg199Ser) c.*383A>T (n.*383A>T) c.492A>T (p.Arg164Ser) | |
| X | g.154992940T>C | CA519371815 | F8 | c.597A>G (p.Arg199=) c.*383A>G (n.*383A>G) c.492A>G (p.Arg164=) | |
| X | g.154992940T>G | CA414919374 | F8 | c.597A>C (p.Arg199Ser) c.*383A>C (n.*383A>C) c.492A>C (p.Arg164Ser) | |
| X | g.154992941C>A | CA414919377 | F8 | c.596G>T (p.Arg199Ile) c.*382G>T (n.*382G>T) c.491G>T (p.Arg164Ile) | |
| X | g.154992941C>G | CA414919376 | F8 | c.596G>C (p.Arg199Thr) c.*382G>C (n.*382G>C) c.491G>C (p.Arg164Thr) | |
| X | g.154992941C>T | CA414919375 | F8 | c.596G>A (p.Arg199Lys) c.*382G>A (n.*382G>A) c.491G>A (p.Arg164Lys) | gnomAD v4 |
| X | g.154992942T>A | CA414919378 | F8 | c.595A>T (p.Arg199Ter) c.*381A>T (n.*381A>T) c.490A>T (p.Arg164Ter) | |
| X | g.154992942T>C | CA414919379 | F8 | c.595A>G (p.Arg199Gly) c.*381A>G (n.*381A>G) c.490A>G (p.Arg164Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154992942T>G | CA519371832 | F8 | c.595A>C (p.Arg199=) c.*381A>C (n.*381A>C) c.490A>C (p.Arg164=) | |
| X | g.154992942T= | CA2466856493 | F8 | c.595A= (p.Arg199=) c.*381A= (n.*381A=) c.490A= (p.Arg164=) | |
| X | g.154992943A>C | CA414919380 | F8 | c.594T>G (p.Cys198Trp) c.*380T>G (n.*380T>G) c.489T>G (p.Cys163Trp) | |
| X | g.154992943A>G | CA519371843 | F8 | c.594T>C (p.Cys198=) c.*380T>C (n.*380T>C) c.489T>C (p.Cys163=) | gnomAD v4 |
| X | g.154992943A>T | CA414919381 | F8 | c.594T>A (p.Cys198Ter) c.*380T>A (n.*380T>A) c.489T>A (p.Cys163Ter) | |
| X | g.154992944C>A | CA414919382 | F8 | c.593G>T (p.Cys198Phe) c.*379G>T (n.*379G>T) c.488G>T (p.Cys163Phe) | |
| X | g.154992944C= | CA2466856494 | F8 | c.593G= (p.Cys198=) c.*379G= (n.*379G=) c.488G= (p.Cys163=) | |
| X | g.154992944C>G | CA414919383 | F8 | c.593G>C (p.Cys198Ser) c.*379G>C (n.*379G>C) c.488G>C (p.Cys163Ser) | |
| X | g.154992944C>T | CA414919384 | F8 | c.593G>A (p.Cys198Tyr) c.*379G>A (n.*379G>A) c.488G>A (p.Cys163Tyr) | dbSNP |
| X | g.154992945A= | CA2466856495 | F8 | c.592T= (p.Cys198=) c.*378T= (n.*378T=) c.487T= (p.Cys163=) | |
| X | g.154992945A>C | CA255227 | F8 | c.592T>G (p.Cys198Gly) c.*378T>G (n.*378T>G) c.487T>G (p.Cys163Gly) | ClinVar dbSNP |
| X | g.154992945A>G | CA414919385 | F8 | c.592T>C (p.Cys198Arg) c.*378T>C (n.*378T>C) c.487T>C (p.Cys163Arg) | |
| X | g.154992945A>T | CA414919386 | F8 | c.592T>A (p.Cys198Ser) c.*378T>A (n.*378T>A) c.487T>A (p.Cys163Ser) | |
| X | g.154992946T>A | CA519371863 | F8 | c.591A>T (p.Val197=) c.*377A>T (n.*377A>T) c.486A>T (p.Val162=) | |
| X | g.154992946T>C | CA519371869 | F8 | c.591A>G (p.Val197=) c.*377A>G (n.*377A>G) c.486A>G (p.Val162=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154992946T>G | CA519371872 | F8 | c.591A>C (p.Val197=) c.*377A>C (n.*377A>C) c.486A>C (p.Val162=) | |
| X | g.154992946T= | CA2466856496 | F8 | c.591A= (p.Val197=) c.*377A= (n.*377A=) c.486A= (p.Val162=) | |
| X | g.154992948_154992950del | CA2695238445 | F8 | c.589_591del (p.Val197del) c.*375_*377del (n.*375_*377del) c.484_486del (p.Val162del) | |
| X | g.154992947A= | CA2466856497 | F8 | c.590T= (p.Val197=) c.*376T= (n.*376T=) c.485T= (p.Val162=) | |
| X | g.154992947A>C | CA414919387 | F8 | c.590T>G (p.Val197Gly) c.*376T>G (n.*376T>G) c.485T>G (p.Val162Gly) | |
| X | g.154992947A>G | CA414919388 | F8 | c.590T>C (p.Val197Ala) c.*376T>C (n.*376T>C) c.485T>C (p.Val162Ala) | dbSNP |
| X | g.154992947A>T | CA414919389 | F8 | c.590T>A (p.Val197Glu) c.*376T>A (n.*376T>A) c.485T>A (p.Val162Glu) | |
| X | g.154992948C>A | CA414919392 | F8 | c.589G>T (p.Val197Leu) c.*375G>T (n.*375G>T) c.484G>T (p.Val162Leu) | |
| X | g.154992948C= | CA2466856498 | F8 | c.589G= (p.Val197=) c.*375G= (n.*375G=) c.484G= (p.Val162=) | |
| X | g.154992948C>G | CA414919391 | F8 | c.589G>C (p.Val197Leu) c.*375G>C (n.*375G>C) c.484G>C (p.Val162Leu) | dbSNP |