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.42693241_42693256del | CA2819076047 | A4GALT,CYB5R3 | c.-49+27544_-49+27559del (n.-49+27544_-49+27559del) c.699_714del (p.Cys233TrpfsTer?) | |
| 22 | g.42693245T>A | CA411811577 | A4GALT,CYB5R3 | c.-49+27552A>T (n.-49+27552A>T) c.707A>T (p.Asp236Val) | |
| 22 | g.42693245T>C | CA411811578 | A4GALT,CYB5R3 | c.-49+27552A>G (n.-49+27552A>G) c.707A>G (p.Asp236Gly) | gnomAD v4 |
| 22 | g.42693245T>G | CA411811579 | A4GALT,CYB5R3 | c.-49+27552A>C (n.-49+27552A>C) c.707A>C (p.Asp236Ala) | |
| 22 | g.42693246C>A | CA411811580 | A4GALT,CYB5R3 | c.-49+27551G>T (n.-49+27551G>T) c.706G>T (p.Asp236Tyr) | |
| 22 | g.42693246C>G | CA411811581 | A4GALT,CYB5R3 | c.-49+27551G>C (n.-49+27551G>C) c.706G>C (p.Asp236His) | |
| 22 | g.42693246C>T | CA411811582 | A4GALT,CYB5R3 | c.-49+27551G>A (n.-49+27551G>A) c.706G>A (p.Asp236Asn) | |
| 22 | g.42693247C>A | CA515070898 | A4GALT,CYB5R3 | c.-49+27550G>T (n.-49+27550G>T) c.705G>T (p.Arg235=) | |
| 22 | g.42693247C= | CA2406870197 | A4GALT,CYB5R3 | c.-49+27550G= (n.-49+27550G=) c.705G= (p.Arg235=) | |
| 22 | g.42693247C>G | CA515070899 | A4GALT,CYB5R3 | c.-49+27550G>C (n.-49+27550G>C) c.705G>C (p.Arg235=) | |
| 22 | g.42693247C>T | CA515070901 | A4GALT,CYB5R3 | c.-49+27550G>A (n.-49+27550G>A) c.705G>A (p.Arg235=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693248C>A | CA411811587 | A4GALT,CYB5R3 | c.-49+27549G>T (n.-49+27549G>T) c.704G>T (p.Arg235Leu) | dbSNP |
| 22 | g.42693248C= | CA2406870198 | A4GALT,CYB5R3 | c.-49+27549G= (n.-49+27549G=) c.704G= (p.Arg235=) | |
| 22 | g.42693248C>G | CA411811585 | A4GALT,CYB5R3 | c.-49+27549G>C (n.-49+27549G>C) c.704G>C (p.Arg235Pro) | |
| 22 | g.42693248C>T | CA10270234 | A4GALT,CYB5R3 | c.-49+27549G>A (n.-49+27549G>A) c.704G>A (p.Arg235Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693249G>A | CA10270235 | A4GALT,CYB5R3 | c.-49+27548C>T (n.-49+27548C>T) c.703C>T (p.Arg235Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693249G>C | CA411811593 | A4GALT,CYB5R3 | c.-49+27548C>G (n.-49+27548C>G) c.703C>G (p.Arg235Gly) | |
| 22 | g.42693249G= | CA2406870199 | A4GALT,CYB5R3 | c.-49+27548C= (n.-49+27548C=) c.703C= (p.Arg235=) | |
| 22 | g.42693249G>T | CA10270236 | A4GALT,CYB5R3 | c.-49+27548C>A (n.-49+27548C>A) c.703C>A (p.Arg235=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693250C>A | CA411811595 | A4GALT,CYB5R3 | c.-49+27547G>T (n.-49+27547G>T) c.702G>T (p.Met234Ile) | |
| 22 | g.42693250C= | CA2406870200 | A4GALT,CYB5R3 | c.-49+27547G= (n.-49+27547G=) c.702G= (p.Met234=) | |
| 22 | g.42693250C>G | CA411811599 | A4GALT,CYB5R3 | c.-49+27547G>C (n.-49+27547G>C) c.702G>C (p.Met234Ile) | |
| 22 | g.42693250C>T | CA411811597 | A4GALT,CYB5R3 | c.-49+27547G>A (n.-49+27547G>A) c.702G>A (p.Met234Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693251A>C | CA411811602 | A4GALT,CYB5R3 | c.-49+27546T>G (n.-49+27546T>G) c.701T>G (p.Met234Arg) | |
| 22 | g.42693251A>G | CA411811603 | A4GALT,CYB5R3 | c.-49+27546T>C (n.-49+27546T>C) c.701T>C (p.Met234Thr) | |
| 22 | g.42693251A>T | CA411811606 | A4GALT,CYB5R3 | c.-49+27546T>A (n.-49+27546T>A) c.701T>A (p.Met234Lys) | |
| 22 | g.42693252T>A | CA411811608 | A4GALT,CYB5R3 | c.-49+27545A>T (n.-49+27545A>T) c.700A>T (p.Met234Leu) | |
| 22 | g.42693252T>C | CA10270237 | A4GALT,CYB5R3 | c.-49+27545A>G (n.-49+27545A>G) c.700A>G (p.Met234Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693252T>G | CA411811611 | A4GALT,CYB5R3 | c.-49+27545A>C (n.-49+27545A>C) c.700A>C (p.Met234Leu) | dbSNP |
| 22 | g.42693252T= | CA2406870201 | A4GALT,CYB5R3 | c.-49+27545A= (n.-49+27545A=) c.700A= (p.Met234=) | |
| 22 | g.42693253G>A | CA515070916 | A4GALT,CYB5R3 | c.-49+27544C>T (n.-49+27544C>T) c.699C>T (p.Cys233=) | |
| 22 | g.42693253G>C | CA411811613 | A4GALT,CYB5R3 | c.-49+27544C>G (n.-49+27544C>G) c.699C>G (p.Cys233Trp) | |
| 22 | g.42693253G>T | CA411811615 | A4GALT,CYB5R3 | c.-49+27544C>A (n.-49+27544C>A) c.699C>A (p.Cys233Ter) | |
| 22 | g.42693254C>A | CA411811617 | A4GALT,CYB5R3 | c.-49+27543G>T (n.-49+27543G>T) c.698G>T (p.Cys233Phe) | |
| 22 | g.42693254C>G | CA411811618 | A4GALT,CYB5R3 | c.-49+27543G>C (n.-49+27543G>C) c.698G>C (p.Cys233Ser) | |
| 22 | g.42693254C>T | CA411811620 | A4GALT,CYB5R3 | c.-49+27543G>A (n.-49+27543G>A) c.698G>A (p.Cys233Tyr) | |
| 22 | g.42693255A>C | CA411811625 | A4GALT,CYB5R3 | c.-49+27542T>G (n.-49+27542T>G) c.697T>G (p.Cys233Gly) | gnomAD v4 |
| 22 | g.42693255A>G | CA411811621 | A4GALT,CYB5R3 | c.-49+27542T>C (n.-49+27542T>C) c.697T>C (p.Cys233Arg) | gnomAD v4 |
| 22 | g.42693255A>T | CA411811623 | A4GALT,CYB5R3 | c.-49+27542T>A (n.-49+27542T>A) c.697T>A (p.Cys233Ser) | |
| 22 | g.42693256C>A | CA515070920 | A4GALT,CYB5R3 | c.-49+27541G>T (n.-49+27541G>T) c.696G>T (p.Leu232=) | |
| 22 | g.42693256C>G | CA515070921 | A4GALT,CYB5R3 | c.-49+27541G>C (n.-49+27541G>C) c.696G>C (p.Leu232=) | gnomAD v4 |
| 22 | g.42693256C>T | CA515070922 | A4GALT,CYB5R3 | c.-49+27541G>A (n.-49+27541G>A) c.696G>A (p.Leu232=) | |
| 22 | g.42693257A>C | CA411811627 | A4GALT,CYB5R3 | c.-49+27540T>G (n.-49+27540T>G) c.695T>G (p.Leu232Arg) | |
| 22 | g.42693257A>G | CA411811629 | A4GALT,CYB5R3 | c.-49+27540T>C (n.-49+27540T>C) c.695T>C (p.Leu232Pro) | gnomAD v4 |
| 22 | g.42693257A>T | CA411811631 | A4GALT,CYB5R3 | c.-49+27540T>A (n.-49+27540T>A) c.695T>A (p.Leu232Gln) | |
| 22 | g.42693258G>A | CA515070929 | A4GALT,CYB5R3 | c.-49+27539C>T (n.-49+27539C>T) c.694C>T (p.Leu232=) | |
| 22 | g.42693258G>C | CA411811634 | A4GALT,CYB5R3 | c.-49+27539C>G (n.-49+27539C>G) c.694C>G (p.Leu232Val) | |
| 22 | g.42693258G>T | CA411811635 | A4GALT,CYB5R3 | c.-49+27539C>A (n.-49+27539C>A) c.694C>A (p.Leu232Met) | |
| 22 | g.42693259C>A | CA515070934 | A4GALT,CYB5R3 | c.-49+27538G>T (n.-49+27538G>T) c.693G>T (p.Ala231=) | |
| 22 | g.42693259C= | CA2406870202 | A4GALT,CYB5R3 | c.-49+27538G= (n.-49+27538G=) c.693G= (p.Ala231=) |