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 |
|---|---|---|---|---|---|
| 22 | g.42693340C>A | CA515072414 | A4GALT,CYB5R3 | c.-49+27457G>T (n.-49+27457G>T) c.612G>T (p.Leu204=) | |
| 22 | g.42693340C>G | CA515072408 | A4GALT,CYB5R3 | c.-49+27457G>C (n.-49+27457G>C) c.612G>C (p.Leu204=) | gnomAD v4 |
| 22 | g.42693340C>T | CA515072406 | A4GALT,CYB5R3 | c.-49+27457G>A (n.-49+27457G>A) c.612G>A (p.Leu204=) | |
| 22 | g.42693341A= | CA2406870247 | A4GALT,CYB5R3 | c.-49+27456T= (n.-49+27456T=) c.611T= (p.Leu204=) | |
| 22 | g.42693341A>C | CA324732289 | A4GALT,CYB5R3 | c.-49+27456T>G (n.-49+27456T>G) c.611T>G (p.Leu204Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693341A>G | CA411811988 | A4GALT,CYB5R3 | c.-49+27456T>C (n.-49+27456T>C) c.611T>C (p.Leu204Pro) | |
| 22 | g.42693341A>T | CA411811990 | A4GALT,CYB5R3 | c.-49+27456T>A (n.-49+27456T>A) c.611T>A (p.Leu204Gln) | |
| 22 | g.42693342G>A | CA515072419 | A4GALT,CYB5R3 | c.-49+27455C>T (n.-49+27455C>T) c.610C>T (p.Leu204=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693342G>C | CA411811993 | A4GALT,CYB5R3 | c.-49+27455C>G (n.-49+27455C>G) c.610C>G (p.Leu204Val) | |
| 22 | g.42693342G= | CA2406870248 | A4GALT,CYB5R3 | c.-49+27455C= (n.-49+27455C=) c.610C= (p.Leu204=) | |
| 22 | g.42693342G>T | CA411811994 | A4GALT,CYB5R3 | c.-49+27455C>A (n.-49+27455C>A) c.610C>A (p.Leu204Met) | gnomAD v4 |
| 22 | g.42693343G>A | CA515072422 | A4GALT,CYB5R3 | c.-49+27454C>T (n.-49+27454C>T) c.609C>T (p.Asn203=) | gnomAD v4 |
| 22 | g.42693343G>C | CA411811995 | A4GALT,CYB5R3 | c.-49+27454C>G (n.-49+27454C>G) c.609C>G (p.Asn203Lys) | |
| 22 | g.42693343G>T | CA411811996 | A4GALT,CYB5R3 | c.-49+27454C>A (n.-49+27454C>A) c.609C>A (p.Asn203Lys) | |
| 22 | g.42693344T>A | CA411811998 | A4GALT,CYB5R3 | c.-49+27453A>T (n.-49+27453A>T) c.608A>T (p.Asn203Ile) | |
| 22 | g.42693344T>C | CA411811999 | A4GALT,CYB5R3 | c.-49+27453A>G (n.-49+27453A>G) c.608A>G (p.Asn203Ser) | |
| 22 | g.42693344T>G | CA411811997 | A4GALT,CYB5R3 | c.-49+27453A>C (n.-49+27453A>C) c.608A>C (p.Asn203Thr) | |
| 22 | g.42693345T>A | CA411812000 | A4GALT,CYB5R3 | c.-49+27452A>T (n.-49+27452A>T) c.607A>T (p.Asn203Tyr) | |
| 22 | g.42693345T>C | CA411812001 | A4GALT,CYB5R3 | c.-49+27452A>G (n.-49+27452A>G) c.607A>G (p.Asn203Asp) | dbSNP gnomAD v4 |
| 22 | g.42693345T>G | CA411812002 | A4GALT,CYB5R3 | c.-49+27452A>C (n.-49+27452A>C) c.607A>C (p.Asn203His) | gnomAD v4 |
| 22 | g.42693345T= | CA2406870249 | A4GALT,CYB5R3 | c.-49+27452A= (n.-49+27452A=) c.607A= (p.Asn203=) | |
| 22 | g.42693346C>A | CA515072431 | A4GALT,CYB5R3 | c.-49+27451G>T (n.-49+27451G>T) c.606G>T (p.Arg202=) | |
| 22 | g.42693346C>G | CA515072433 | A4GALT,CYB5R3 | c.-49+27451G>C (n.-49+27451G>C) c.606G>C (p.Arg202=) | |
| 22 | g.42693346C>T | CA515072434 | A4GALT,CYB5R3 | c.-49+27451G>A (n.-49+27451G>A) c.606G>A (p.Arg202=) | |
| 22 | g.42693347C>A | CA411812003 | A4GALT,CYB5R3 | c.-49+27450G>T (n.-49+27450G>T) c.605G>T (p.Arg202Leu) | |
| 22 | g.42693347C= | CA2406870250 | A4GALT,CYB5R3 | c.-49+27450G= (n.-49+27450G=) c.605G= (p.Arg202=) | |
| 22 | g.42693347C>G | CA411812004 | A4GALT,CYB5R3 | c.-49+27450G>C (n.-49+27450G>C) c.605G>C (p.Arg202Pro) | |
| 22 | g.42693347C>T | CA10270258 | A4GALT,CYB5R3 | c.-49+27450G>A (n.-49+27450G>A) c.605G>A (p.Arg202Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693348G>A | CA10270259 | A4GALT,CYB5R3 | c.-49+27449C>T (n.-49+27449C>T) c.604C>T (p.Arg202Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693348G>C | CA411812005 | A4GALT,CYB5R3 | c.-49+27449C>G (n.-49+27449C>G) c.604C>G (p.Arg202Gly) | |
| 22 | g.42693348G= | CA2406870251 | A4GALT,CYB5R3 | c.-49+27449C= (n.-49+27449C=) c.604C= (p.Arg202=) | |
| 22 | g.42693348G>T | CA515072441 | A4GALT,CYB5R3 | c.-49+27449C>A (n.-49+27449C>A) c.604C>A (p.Arg202=) | gnomAD v4 |
| 22 | g.42693349C>A | CA515072444 | A4GALT,CYB5R3 | c.-49+27448G>T (n.-49+27448G>T) c.603G>T (p.Leu201=) | |
| 22 | g.42693349C>G | CA515072446 | A4GALT,CYB5R3 | c.-49+27448G>C (n.-49+27448G>C) c.603G>C (p.Leu201=) | |
| 22 | g.42693349C>T | CA515072447 | A4GALT,CYB5R3 | c.-49+27448G>A (n.-49+27448G>A) c.603G>A (p.Leu201=) | |
| 22 | g.42693350A>C | CA411812006 | A4GALT,CYB5R3 | c.-49+27447T>G (n.-49+27447T>G) c.602T>G (p.Leu201Arg) | |
| 22 | g.42693350A>G | CA411812007 | A4GALT,CYB5R3 | c.-49+27447T>C (n.-49+27447T>C) c.602T>C (p.Leu201Pro) | |
| 22 | g.42693350A>T | CA411812008 | A4GALT,CYB5R3 | c.-49+27447T>A (n.-49+27447T>A) c.602T>A (p.Leu201Gln) | |
| 22 | g.42693351G>A | CA515072454 | A4GALT,CYB5R3 | c.-49+27446C>T (n.-49+27446C>T) c.601C>T (p.Leu201=) | |
| 22 | g.42693351G>C | CA411812009 | A4GALT,CYB5R3 | c.-49+27446C>G (n.-49+27446C>G) c.601C>G (p.Leu201Val) | |
| 22 | g.42693351G>T | CA411812010 | A4GALT,CYB5R3 | c.-49+27446C>A (n.-49+27446C>A) c.601C>A (p.Leu201Met) | |
| 22 | g.42693352G>A | CA515072457 | A4GALT,CYB5R3 | c.-49+27445C>T (n.-49+27445C>T) c.600C>T (p.Asn200=) | gnomAD v4 |
| 22 | g.42693352G>C | CA411812012 | A4GALT,CYB5R3 | c.-49+27445C>G (n.-49+27445C>G) c.600C>G (p.Asn200Lys) | |
| 22 | g.42693352G>T | CA411812011 | A4GALT,CYB5R3 | c.-49+27445C>A (n.-49+27445C>A) c.600C>A (p.Asn200Lys) | |
| 22 | g.42693353T>A | CA411812013 | A4GALT,CYB5R3 | c.-49+27444A>T (n.-49+27444A>T) c.599A>T (p.Asn200Ile) | |
| 22 | g.42693353T>C | CA411812014 | A4GALT,CYB5R3 | c.-49+27444A>G (n.-49+27444A>G) c.599A>G (p.Asn200Ser) | |
| 22 | g.42693353T>G | CA411812015 | A4GALT,CYB5R3 | c.-49+27444A>C (n.-49+27444A>C) c.599A>C (p.Asn200Thr) | |
| 22 | g.42693354T>A | CA411812016 | A4GALT,CYB5R3 | c.-49+27443A>T (n.-49+27443A>T) c.598A>T (p.Asn200Tyr) | |
| 22 | g.42693354T>C | CA324732294 | A4GALT,CYB5R3 | c.-49+27443A>G (n.-49+27443A>G) c.598A>G (p.Asn200Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693354T>G | CA411812017 | A4GALT,CYB5R3 | c.-49+27443A>C (n.-49+27443A>C) c.598A>C (p.Asn200His) |