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.42693076C>A | CA411810443 | A4GALT,CYB5R3 | c.-49+27721G>T (n.-49+27721G>T) c.876G>T (p.Trp292Cys) | |
| 22 | g.42693076C>G | CA411810444 | A4GALT,CYB5R3 | c.-49+27721G>C (n.-49+27721G>C) c.876G>C (p.Trp292Cys) | |
| 22 | g.42693076C>T | CA411810445 | A4GALT,CYB5R3 | c.-49+27721G>A (n.-49+27721G>A) c.876G>A (p.Trp292Ter) | COSMIC |
| 22 | g.42693077C>A | CA411810446 | A4GALT,CYB5R3 | c.-49+27720G>T (n.-49+27720G>T) c.875G>T (p.Trp292Leu) | |
| 22 | g.42693077C>G | CA411810447 | A4GALT,CYB5R3 | c.-49+27720G>C (n.-49+27720G>C) c.875G>C (p.Trp292Ser) | |
| 22 | g.42693077C>T | CA411810448 | A4GALT,CYB5R3 | c.-49+27720G>A (n.-49+27720G>A) c.875G>A (p.Trp292Ter) | gnomAD v4 |
| 22 | g.42693078A>C | CA411810450 | A4GALT,CYB5R3 | c.-49+27719T>G (n.-49+27719T>G) c.874T>G (p.Trp292Gly) | |
| 22 | g.42693078A>G | CA411810451 | A4GALT,CYB5R3 | c.-49+27719T>C (n.-49+27719T>C) c.874T>C (p.Trp292Arg) | |
| 22 | g.42693078A>T | CA411810449 | A4GALT,CYB5R3 | c.-49+27719T>A (n.-49+27719T>A) c.874T>A (p.Trp292Arg) | |
| 22 | g.42693079G>A | CA515071807 | A4GALT,CYB5R3 | c.-49+27718C>T (n.-49+27718C>T) c.873C>T (p.Asp291=) | gnomAD v4 |
| 22 | g.42693079G>C | CA411810452 | A4GALT,CYB5R3 | c.-49+27718C>G (n.-49+27718C>G) c.873C>G (p.Asp291Glu) | gnomAD v4 |
| 22 | g.42693079G>T | CA411810453 | A4GALT,CYB5R3 | c.-49+27718C>A (n.-49+27718C>A) c.873C>A (p.Asp291Glu) | gnomAD v4 |
| 22 | g.42693080T>A | CA411810454 | A4GALT,CYB5R3 | c.-49+27717A>T (n.-49+27717A>T) c.872A>T (p.Asp291Val) | |
| 22 | g.42693080T>C | CA411810455 | A4GALT,CYB5R3 | c.-49+27717A>G (n.-49+27717A>G) c.872A>G (p.Asp291Gly) | |
| 22 | g.42693080T>G | CA411810456 | A4GALT,CYB5R3 | c.-49+27717A>C (n.-49+27717A>C) c.872A>C (p.Asp291Ala) | |
| 22 | g.42693081C>A | CA10270194 | A4GALT,CYB5R3 | c.-49+27716G>T (n.-49+27716G>T) c.871G>T (p.Asp291Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693081C= | CA2406870104 | A4GALT,CYB5R3 | c.-49+27716G= (n.-49+27716G=) c.871G= (p.Asp291=) | |
| 22 | g.42693081C>G | CA411810457 | A4GALT,CYB5R3 | c.-49+27716G>C (n.-49+27716G>C) c.871G>C (p.Asp291His) | |
| 22 | g.42693081C>T | CA411810458 | A4GALT,CYB5R3 | c.-49+27716G>A (n.-49+27716G>A) c.871G>A (p.Asp291Asn) | gnomAD v4 |
| 22 | g.42693082C>A | CA411810459 | A4GALT,CYB5R3 | c.-49+27715G>T (n.-49+27715G>T) c.870G>T (p.Gln290His) | |
| 22 | g.42693082C>G | CA411810460 | A4GALT,CYB5R3 | c.-49+27715G>C (n.-49+27715G>C) c.870G>C (p.Gln290His) | |
| 22 | g.42693082C>T | CA515071827 | A4GALT,CYB5R3 | c.-49+27715G>A (n.-49+27715G>A) c.870G>A (p.Gln290=) | |
| 22 | g.42693083T>A | CA411810461 | A4GALT,CYB5R3 | c.-49+27714A>T (n.-49+27714A>T) c.869A>T (p.Gln290Leu) | |
| 22 | g.42693083T>C | CA411810462 | A4GALT,CYB5R3 | c.-49+27714A>G (n.-49+27714A>G) c.869A>G (p.Gln290Arg) | gnomAD v4 |
| 22 | g.42693083T>G | CA411810463 | A4GALT,CYB5R3 | c.-49+27714A>C (n.-49+27714A>C) c.869A>C (p.Gln290Pro) | |
| 22 | g.42693084G>A | CA411810466 | A4GALT,CYB5R3 | c.-49+27713C>T (n.-49+27713C>T) c.868C>T (p.Gln290Ter) | |
| 22 | g.42693084G>C | CA411810465 | A4GALT,CYB5R3 | c.-49+27713C>G (n.-49+27713C>G) c.868C>G (p.Gln290Glu) | |
| 22 | g.42693084G>T | CA411810464 | A4GALT,CYB5R3 | c.-49+27713C>A (n.-49+27713C>A) c.868C>A (p.Gln290Lys) | |
| 22 | g.42693085C>A | CA411810467 | A4GALT,CYB5R3 | c.-49+27712G>T (n.-49+27712G>T) c.867G>T (p.Trp289Cys) | |
| 22 | g.42693085C>G | CA411810468 | A4GALT,CYB5R3 | c.-49+27712G>C (n.-49+27712G>C) c.867G>C (p.Trp289Cys) | |
| 22 | g.42693085C>T | CA411810469 | A4GALT,CYB5R3 | c.-49+27712G>A (n.-49+27712G>A) c.867G>A (p.Trp289Ter) | |
| 22 | g.42693086C>A | CA411810471 | A4GALT,CYB5R3 | c.-49+27711G>T (n.-49+27711G>T) c.866G>T (p.Trp289Leu) | |
| 22 | g.42693086C= | CA2406870105 | A4GALT,CYB5R3 | c.-49+27711G= (n.-49+27711G=) c.866G= (p.Trp289=) | |
| 22 | g.42693086C>G | CA411810473 | A4GALT,CYB5R3 | c.-49+27711G>C (n.-49+27711G>C) c.866G>C (p.Trp289Ser) | gnomAD v4 |
| 22 | g.42693086C>T | CA411810475 | A4GALT,CYB5R3 | c.-49+27711G>A (n.-49+27711G>A) c.866G>A (p.Trp289Ter) | dbSNP gnomAD v2 |
| 22 | g.42693087A>C | CA411810477 | A4GALT,CYB5R3 | c.-49+27710T>G (n.-49+27710T>G) c.865T>G (p.Trp289Gly) | |
| 22 | g.42693087A>G | CA411810479 | A4GALT,CYB5R3 | c.-49+27710T>C (n.-49+27710T>C) c.865T>C (p.Trp289Arg) | |
| 22 | g.42693087A>T | CA411810481 | A4GALT,CYB5R3 | c.-49+27710T>A (n.-49+27710T>A) c.865T>A (p.Trp289Arg) | |
| 22 | g.42693088G>A | CA515071843 | A4GALT,CYB5R3 | c.-49+27709C>T (n.-49+27709C>T) c.864C>T (p.Pro288=) | gnomAD v4 |
| 22 | g.42693088G>C | CA515071844 | A4GALT,CYB5R3 | c.-49+27709C>G (n.-49+27709C>G) c.864C>G (p.Pro288=) | |
| 22 | g.42693088G>T | CA515071845 | A4GALT,CYB5R3 | c.-49+27709C>A (n.-49+27709C>A) c.864C>A (p.Pro288=) | |
| 22 | g.42693089G>A | CA411810483 | A4GALT,CYB5R3 | c.-49+27708C>T (n.-49+27708C>T) c.863C>T (p.Pro288Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693089G>C | CA411810485 | A4GALT,CYB5R3 | c.-49+27708C>G (n.-49+27708C>G) c.863C>G (p.Pro288Arg) | gnomAD v4 |
| 22 | g.42693089G= | CA2406870106 | A4GALT,CYB5R3 | c.-49+27708C= (n.-49+27708C=) c.863C= (p.Pro288=) | |
| 22 | g.42693089G>T | CA411810487 | A4GALT,CYB5R3 | c.-49+27708C>A (n.-49+27708C>A) c.863C>A (p.Pro288His) | |
| 22 | g.42693090G>A | CA10270195 | A4GALT,CYB5R3 | c.-49+27707C>T (n.-49+27707C>T) c.862C>T (p.Pro288Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693090G>C | CA411810491 | A4GALT,CYB5R3 | c.-49+27707C>G (n.-49+27707C>G) c.862C>G (p.Pro288Ala) | |
| 22 | g.42693090G= | CA2406870107 | A4GALT,CYB5R3 | c.-49+27707C= (n.-49+27707C=) c.862C= (p.Pro288=) | |
| 22 | g.42693090G>T | CA411810490 | A4GALT,CYB5R3 | c.-49+27707C>A (n.-49+27707C>A) c.862C>A (p.Pro288Thr) | |
| 22 | g.42693091G>A | CA515071858 | A4GALT,CYB5R3 | c.-49+27706C>T (n.-49+27706C>T) c.861C>T (p.Ile287=) | |
| 22 | g.42693091G>C | CA411810494 | A4GALT,CYB5R3 | c.-49+27706C>G (n.-49+27706C>G) c.861C>G (p.Ile287Met) | |
| 22 | g.42693091G>T | CA515071860 | A4GALT,CYB5R3 | c.-49+27706C>A (n.-49+27706C>A) c.861C>A (p.Ile287=) | dbSNP gnomAD v4 |
| 22 | g.42693092A= | CA2406870108 | A4GALT,CYB5R3 | c.-49+27705T= (n.-49+27705T=) c.860T= (p.Ile287=) | |
| 22 | g.42693092A>C | CA411810498 | A4GALT,CYB5R3 | c.-49+27705T>G (n.-49+27705T>G) c.860T>G (p.Ile287Ser) | |
| 22 | g.42693092A>G | CA411810496 | A4GALT,CYB5R3 | c.-49+27705T>C (n.-49+27705T>C) c.860T>C (p.Ile287Thr) | dbSNP gnomAD v2 |
| 22 | g.42693092A>T | CA411810499 | A4GALT,CYB5R3 | c.-49+27705T>A (n.-49+27705T>A) c.860T>A (p.Ile287Asn) | |
| 22 | g.42693093T>A | CA411810501 | A4GALT,CYB5R3 | c.-49+27704A>T (n.-49+27704A>T) c.859A>T (p.Ile287Phe) | |
| 22 | g.42693093T>C | CA411810505 | A4GALT,CYB5R3 | c.-49+27704A>G (n.-49+27704A>G) c.859A>G (p.Ile287Val) | |
| 22 | g.42693093T>G | CA411810503 | A4GALT,CYB5R3 | c.-49+27704A>C (n.-49+27704A>C) c.859A>C (p.Ile287Leu) | |
| 22 | g.42693093_42693094delinsTG | CA2406870109 | A4GALT,CYB5R3 | c.-49+27703_-49+27704delinsCA (n.-49+27703_-49+27704delinsCA) c.858_859delinsCA (p.Pro286=) | |
| 22 | g.42693094G>A | CA515071889 | A4GALT,CYB5R3 | c.-49+27703C>T (n.-49+27703C>T) c.858C>T (p.Pro286=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693094G>C | CA515071891 | A4GALT,CYB5R3 | c.-49+27703C>G (n.-49+27703C>G) c.858C>G (p.Pro286=) | |
| 22 | g.42693094G= | CA2406870110 | A4GALT,CYB5R3 | c.-49+27703C= (n.-49+27703C=) c.858C= (p.Pro286=) | |
| 22 | g.42693094G>T | CA515071919 | A4GALT,CYB5R3 | c.-49+27703C>A (n.-49+27703C>A) c.858C>A (p.Pro286=) | |
| 22 | g.42693097del | CA10270196 | A4GALT,CYB5R3 | c.-49+27703del (n.-49+27703del) c.858del (p.Ile287SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693095G>A | CA411810507 | A4GALT,CYB5R3 | c.-49+27702C>T (n.-49+27702C>T) c.857C>T (p.Pro286Leu) | |
| 22 | g.42693095G>C | CA324732155 | A4GALT,CYB5R3 | c.-49+27702C>G (n.-49+27702C>G) c.857C>G (p.Pro286Arg) | dbSNP |
| 22 | g.42693095G= | CA2406870111 | A4GALT,CYB5R3 | c.-49+27702C= (n.-49+27702C=) c.857C= (p.Pro286=) | |
| 22 | g.42693095G>T | CA411810510 | A4GALT,CYB5R3 | c.-49+27702C>A (n.-49+27702C>A) c.857C>A (p.Pro286His) | |
| 22 | g.42693096G>A | CA10270197 | A4GALT,CYB5R3 | c.-49+27701C>T (n.-49+27701C>T) c.856C>T (p.Pro286Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693096G>C | CA411810514 | A4GALT,CYB5R3 | c.-49+27701C>G (n.-49+27701C>G) c.856C>G (p.Pro286Ala) | dbSNP gnomAD v4 |
| 22 | g.42693096G= | CA2406870112 | A4GALT,CYB5R3 | c.-49+27701C= (n.-49+27701C=) c.856C= (p.Pro286=) | |
| 22 | g.42693096G>T | CA411810515 | A4GALT,CYB5R3 | c.-49+27701C>A (n.-49+27701C>A) c.856C>A (p.Pro286Thr) | |
| 22 | g.42693097G>A | CA10270198 | A4GALT,CYB5R3 | c.-49+27700C>T (n.-49+27700C>T) c.855C>T (p.Tyr285=) | dbSNP ExAC gnomAD v4 |
| 22 | g.42693097G>C | CA411810519 | A4GALT,CYB5R3 | c.-49+27700C>G (n.-49+27700C>G) c.855C>G (p.Tyr285Ter) | |
| 22 | g.42693097G= | CA2406870113 | A4GALT,CYB5R3 | c.-49+27700C= (n.-49+27700C=) c.855C= (p.Tyr285=) | |
| 22 | g.42693097G>T | CA411810522 | A4GALT,CYB5R3 | c.-49+27700C>A (n.-49+27700C>A) c.855C>A (p.Tyr285Ter) | |
| 22 | g.42693097_42693098dup | CA2695230995 | A4GALT,CYB5R3 | c.-49+27699_-49+27700dup (n.-49+27699_-49+27700dup) c.854_855dup (p.Pro286ThrfsTer?) | |
| 22 | g.42693098T>A | CA411810524 | A4GALT,CYB5R3 | c.-49+27699A>T (n.-49+27699A>T) c.854A>T (p.Tyr285Phe) | |
| 22 | g.42693098T>C | CA411810525 | A4GALT,CYB5R3 | c.-49+27699A>G (n.-49+27699A>G) c.854A>G (p.Tyr285Cys) | |
| 22 | g.42693098T>G | CA411810527 | A4GALT,CYB5R3 | c.-49+27699A>C (n.-49+27699A>C) c.854A>C (p.Tyr285Ser) | |
| 22 | g.42693099del | CA2657079283 | A4GALT,CYB5R3 | c.-49+27698del (n.-49+27698del) c.853del (p.Tyr285ThrfsTer?) | gnomAD v4 |
| 22 | g.42693099A>C | CA411810534 | A4GALT,CYB5R3 | c.-49+27698T>G (n.-49+27698T>G) c.853T>G (p.Tyr285Asp) | |
| 22 | g.42693099A>G | CA411810529 | A4GALT,CYB5R3 | c.-49+27698T>C (n.-49+27698T>C) c.853T>C (p.Tyr285His) | |
| 22 | g.42693099A>T | CA411810531 | A4GALT,CYB5R3 | c.-49+27698T>A (n.-49+27698T>A) c.853T>A (p.Tyr285Asn) | |
| 22 | g.42693101_42693103del | CA2577739305 | A4GALT,CYB5R3 | c.-49+27696_-49+27698del (n.-49+27696_-49+27698del) c.851_853del (p.Phe284del) | |
| 22 | g.42693100G>A | CA515071950 | A4GALT,CYB5R3 | c.-49+27697C>T (n.-49+27697C>T) c.852C>T (p.Phe284=) | |
| 22 | g.42693100G>C | CA411810535 | A4GALT,CYB5R3 | c.-49+27697C>G (n.-49+27697C>G) c.852C>G (p.Phe284Leu) | |
| 22 | g.42693100G>T | CA411810536 | A4GALT,CYB5R3 | c.-49+27697C>A (n.-49+27697C>A) c.852C>A (p.Phe284Leu) | |
| 22 | g.42693101A>C | CA411810539 | A4GALT,CYB5R3 | c.-49+27696T>G (n.-49+27696T>G) c.851T>G (p.Phe284Cys) | |
| 22 | g.42693101A>G | CA411810541 | A4GALT,CYB5R3 | c.-49+27696T>C (n.-49+27696T>C) c.851T>C (p.Phe284Ser) | gnomAD v4 |
| 22 | g.42693101A>T | CA411810543 | A4GALT,CYB5R3 | c.-49+27696T>A (n.-49+27696T>A) c.851T>A (p.Phe284Tyr) | |
| 22 | g.42693102A>C | CA411810545 | A4GALT,CYB5R3 | c.-49+27695T>G (n.-49+27695T>G) c.850T>G (p.Phe284Val) | |
| 22 | g.42693102A>G | CA411810547 | A4GALT,CYB5R3 | c.-49+27695T>C (n.-49+27695T>C) c.850T>C (p.Phe284Leu) | |
| 22 | g.42693102A>T | CA411810549 | A4GALT,CYB5R3 | c.-49+27695T>A (n.-49+27695T>A) c.850T>A (p.Phe284Ile) | gnomAD v4 |
| 22 | g.42693103G>A | CA324732159 | A4GALT,CYB5R3 | c.-49+27694C>T (n.-49+27694C>T) c.849C>T (p.Ala283=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693103G>C | CA515071969 | A4GALT,CYB5R3 | c.-49+27694C>G (n.-49+27694C>G) c.849C>G (p.Ala283=) | |
| 22 | g.42693103G= | CA2406870114 | A4GALT,CYB5R3 | c.-49+27694C= (n.-49+27694C=) c.849C= (p.Ala283=) | |
| 22 | g.42693103G>T | CA515071972 | A4GALT,CYB5R3 | c.-49+27694C>A (n.-49+27694C>A) c.849C>A (p.Ala283=) | |
| 22 | g.42693104G>A | CA411810552 | A4GALT,CYB5R3 | c.-49+27693C>T (n.-49+27693C>T) c.848C>T (p.Ala283Val) | COSMIC |
| 22 | g.42693104G>C | CA411810554 | A4GALT,CYB5R3 | c.-49+27693C>G (n.-49+27693C>G) c.848C>G (p.Ala283Gly) | dbSNP gnomAD v4 |
| 22 | g.42693104G= | CA2406870115 | A4GALT,CYB5R3 | c.-49+27693C= (n.-49+27693C=) c.848C= (p.Ala283=) | |
| 22 | g.42693104G>T | CA411810555 | A4GALT,CYB5R3 | c.-49+27693C>A (n.-49+27693C>A) c.848C>A (p.Ala283Asp) | |
| 22 | g.42693105C>A | CA411810558 | A4GALT,CYB5R3 | c.-49+27692G>T (n.-49+27692G>T) c.847G>T (p.Ala283Ser) | |
| 22 | g.42693105C>G | CA411810562 | A4GALT,CYB5R3 | c.-49+27692G>C (n.-49+27692G>C) c.847G>C (p.Ala283Pro) | |
| 22 | g.42693105C>T | CA411810559 | A4GALT,CYB5R3 | c.-49+27692G>A (n.-49+27692G>A) c.847G>A (p.Ala283Thr) | |
| 22 | g.42693106C>A | CA411810564 | A4GALT,CYB5R3 | c.-49+27691G>T (n.-49+27691G>T) c.846G>T (p.Glu282Asp) | |
| 22 | g.42693106C>G | CA411810566 | A4GALT,CYB5R3 | c.-49+27691G>C (n.-49+27691G>C) c.846G>C (p.Glu282Asp) | |
| 22 | g.42693106C>T | CA515071987 | A4GALT,CYB5R3 | c.-49+27691G>A (n.-49+27691G>A) c.846G>A (p.Glu282=) | |
| 22 | g.42693107T>A | CA411810568 | A4GALT,CYB5R3 | c.-49+27690A>T (n.-49+27690A>T) c.845A>T (p.Glu282Val) | |
| 22 | g.42693107T>C | CA411810570 | A4GALT,CYB5R3 | c.-49+27690A>G (n.-49+27690A>G) c.845A>G (p.Glu282Gly) | |
| 22 | g.42693107T>G | CA411810573 | A4GALT,CYB5R3 | c.-49+27690A>C (n.-49+27690A>C) c.845A>C (p.Glu282Ala) | |
| 22 | g.42693108C>A | CA411810576 | A4GALT,CYB5R3 | c.-49+27689G>T (n.-49+27689G>T) c.844G>T (p.Glu282Ter) | |
| 22 | g.42693108C>G | CA411810577 | A4GALT,CYB5R3 | c.-49+27689G>C (n.-49+27689G>C) c.844G>C (p.Glu282Gln) | |
| 22 | g.42693108C>T | CA411810579 | A4GALT,CYB5R3 | c.-49+27689G>A (n.-49+27689G>A) c.844G>A (p.Glu282Lys) | |
| 22 | g.42693108_42693109delinsCA | CA2406870116 | A4GALT,CYB5R3 | c.-49+27688_-49+27689delinsTG (n.-49+27688_-49+27689delinsTG) c.843_844delinsTG (p.Pro281=) | |
| 22 | g.42693109del | CA639829274 | A4GALT,CYB5R3 | c.-49+27688del (n.-49+27688del) c.843del (p.Glu282ArgfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693109A>C | CA515072005 | A4GALT,CYB5R3 | c.-49+27688T>G (n.-49+27688T>G) c.843T>G (p.Pro281=) | |
| 22 | g.42693109A>G | CA515072000 | A4GALT,CYB5R3 | c.-49+27688T>C (n.-49+27688T>C) c.843T>C (p.Pro281=) | |
| 22 | g.42693109A>T | CA515072002 | A4GALT,CYB5R3 | c.-49+27688T>A (n.-49+27688T>A) c.843T>A (p.Pro281=) | |
| 22 | g.42693110G>A | CA411810582 | A4GALT,CYB5R3 | c.-49+27687C>T (n.-49+27687C>T) c.842C>T (p.Pro281Leu) | gnomAD v4 COSMIC |
| 22 | g.42693110G>C | CA411810584 | A4GALT,CYB5R3 | c.-49+27687C>G (n.-49+27687C>G) c.842C>G (p.Pro281Arg) | |
| 22 | g.42693110G>T | CA411810586 | A4GALT,CYB5R3 | c.-49+27687C>A (n.-49+27687C>A) c.842C>A (p.Pro281His) | |
| 22 | g.42693110_42693111insTGTTGTTCATTTTTTGTTTGTTTTTCA | CA1025982031 | A4GALT,CYB5R3 | c.-49+27686_-49+27687insTGAAAAACAAACAAAAAATGAACAACA (n.-49+27686_-49+27687insTGAAAAACAAACAAAAAATGAACAACA) c.841_842insTGAAAAACAAACAAAAAATGAACAACA (p.Pro281delinsLeuLysAsnLysGlnLysMetAsnAsnThr) | gnomAD v3 gnomAD v4 |
| 22 | g.42693111G>A | CA411810591 | A4GALT,CYB5R3 | c.-49+27686C>T (n.-49+27686C>T) c.841C>T (p.Pro281Ser) | |
| 22 | g.42693111G>C | CA411810589 | A4GALT,CYB5R3 | c.-49+27686C>G (n.-49+27686C>G) c.841C>G (p.Pro281Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693111G= | CA2406870117 | A4GALT,CYB5R3 | c.-49+27686C= (n.-49+27686C=) c.841C= (p.Pro281=) | |
| 22 | g.42693111G>T | CA411810588 | A4GALT,CYB5R3 | c.-49+27686C>A (n.-49+27686C>A) c.841C>A (p.Pro281Thr) | gnomAD v4 |
| 22 | g.42693112G>A | CA515072016 | A4GALT,CYB5R3 | c.-49+27685C>T (n.-49+27685C>T) c.840C>T (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693112G>C | CA515072018 | A4GALT,CYB5R3 | c.-49+27685C>G (n.-49+27685C>G) c.840C>G (p.Pro280=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693112G= | CA2406870118 | A4GALT,CYB5R3 | c.-49+27685C= (n.-49+27685C=) c.840C= (p.Pro280=) | |
| 22 | g.42693112G>T | CA515072019 | A4GALT,CYB5R3 | c.-49+27685C>A (n.-49+27685C>A) c.840C>A (p.Pro280=) | gnomAD v4 |
| 22 | g.42693112_42693113insAA | CA1025982032 | A4GALT,CYB5R3 | c.-49+27684_-49+27685insTT (n.-49+27684_-49+27685insTT) c.839_840insTT (p.Pro281SerfsTer?) | gnomAD v3 gnomAD v4 |
| 22 | g.42693112_42693113insTTGTTCATTTTTTGTTTGTTTTTCA | CA2657079297 | A4GALT,CYB5R3 | c.-49+27684_-49+27685insTGAAAAACAAACAAAAAATGAACAA (n.-49+27684_-49+27685insTGAAAAACAAACAAAAAATGAACAA) c.839_840insTGAAAAACAAACAAAAAATGAACAA (p.Pro281GlufsTer10) | gnomAD v4 |
| 22 | g.42693113G>A | CA411810592 | A4GALT,CYB5R3 | c.-49+27684C>T (n.-49+27684C>T) c.839C>T (p.Pro280Leu) | dbSNP gnomAD v2 |
| 22 | g.42693113G>C | CA411810594 | A4GALT,CYB5R3 | c.-49+27684C>G (n.-49+27684C>G) c.839C>G (p.Pro280Arg) | |
| 22 | g.42693113G= | CA2406870119 | A4GALT,CYB5R3 | c.-49+27684C= (n.-49+27684C=) c.839C= (p.Pro280=) | |
| 22 | g.42693113G>T | CA411810596 | A4GALT,CYB5R3 | c.-49+27684C>A (n.-49+27684C>A) c.839C>A (p.Pro280His) | |
| 22 | g.42693114G>A | CA411810598 | A4GALT,CYB5R3 | c.-49+27683C>T (n.-49+27683C>T) c.838C>T (p.Pro280Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693114G>C | CA411810600 | A4GALT,CYB5R3 | c.-49+27683C>G (n.-49+27683C>G) c.838C>G (p.Pro280Ala) | |
| 22 | g.42693114G= | CA2406870120 | A4GALT,CYB5R3 | c.-49+27683C= (n.-49+27683C=) c.838C= (p.Pro280=) | |
| 22 | g.42693114G>T | CA411810602 | A4GALT,CYB5R3 | c.-49+27683C>A (n.-49+27683C>A) c.838C>A (p.Pro280Thr) | |
| 22 | g.42693115C>A | CA515072036 | A4GALT,CYB5R3 | c.-49+27682G>T (n.-49+27682G>T) c.837G>T (p.Leu279=) | gnomAD v4 |
| 22 | g.42693115C= | CA2406870121 | A4GALT,CYB5R3 | c.-49+27682G= (n.-49+27682G=) c.837G= (p.Leu279=) | |
| 22 | g.42693115C>G | CA515072031 | A4GALT,CYB5R3 | c.-49+27682G>C (n.-49+27682G>C) c.837G>C (p.Leu279=) | |
| 22 | g.42693115C>T | CA515072033 | A4GALT,CYB5R3 | c.-49+27682G>A (n.-49+27682G>A) c.837G>A (p.Leu279=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693116A>C | CA411810606 | A4GALT,CYB5R3 | c.-49+27681T>G (n.-49+27681T>G) c.836T>G (p.Leu279Arg) | |
| 22 | g.42693116A>G | CA411810607 | A4GALT,CYB5R3 | c.-49+27681T>C (n.-49+27681T>C) c.836T>C (p.Leu279Pro) | |
| 22 | g.42693116A>T | CA411810609 | A4GALT,CYB5R3 | c.-49+27681T>A (n.-49+27681T>A) c.836T>A (p.Leu279Gln) | |
| 22 | g.42693117G>A | CA515072048 | A4GALT,CYB5R3 | c.-49+27680C>T (n.-49+27680C>T) c.835C>T (p.Leu279=) | |
| 22 | g.42693117G>C | CA324732161 | A4GALT,CYB5R3 | c.-49+27680C>G (n.-49+27680C>G) c.835C>G (p.Leu279Val) | dbSNP |
| 22 | g.42693117G= | CA2406870122 | A4GALT,CYB5R3 | c.-49+27680C= (n.-49+27680C=) c.835C= (p.Leu279=) | |
| 22 | g.42693117G>T | CA411810612 | A4GALT,CYB5R3 | c.-49+27680C>A (n.-49+27680C>A) c.835C>A (p.Leu279Met) | gnomAD v4 |
| 22 | g.42693118G>A | CA515072052 | A4GALT,CYB5R3 | c.-49+27679C>T (n.-49+27679C>T) c.834C>T (p.Thr278=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693118G>C | CA515072054 | A4GALT,CYB5R3 | c.-49+27679C>G (n.-49+27679C>G) c.834C>G (p.Thr278=) | |
| 22 | g.42693118G= | CA2406870123 | A4GALT,CYB5R3 | c.-49+27679C= (n.-49+27679C=) c.834C= (p.Thr278=) | |
| 22 | g.42693118G>T | CA515072055 | A4GALT,CYB5R3 | c.-49+27679C>A (n.-49+27679C>A) c.834C>A (p.Thr278=) | |
| 22 | g.42693119G>A | CA411810619 | A4GALT,CYB5R3 | c.-49+27678C>T (n.-49+27678C>T) c.833C>T (p.Thr278Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693119G>C | CA411810617 | A4GALT,CYB5R3 | c.-49+27678C>G (n.-49+27678C>G) c.833C>G (p.Thr278Ser) | |
| 22 | g.42693119G= | CA2406870124 | A4GALT,CYB5R3 | c.-49+27678C= (n.-49+27678C=) c.833C= (p.Thr278=) | |
| 22 | g.42693119G>T | CA411810615 | A4GALT,CYB5R3 | c.-49+27678C>A (n.-49+27678C>A) c.833C>A (p.Thr278Asn) | |
| 22 | g.42693120T>A | CA411810622 | A4GALT,CYB5R3 | c.-49+27677A>T (n.-49+27677A>T) c.832A>T (p.Thr278Ser) | |
| 22 | g.42693120T>C | CA411810625 | A4GALT,CYB5R3 | c.-49+27677A>G (n.-49+27677A>G) c.832A>G (p.Thr278Ala) | |
| 22 | g.42693120T>G | CA411810623 | A4GALT,CYB5R3 | c.-49+27677A>C (n.-49+27677A>C) c.832A>C (p.Thr278Pro) | |
| 22 | g.42693121G>A | CA515072063 | A4GALT,CYB5R3 | c.-49+27676C>T (n.-49+27676C>T) c.831C>T (p.Thr277=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693121G>C | CA515072065 | A4GALT,CYB5R3 | c.-49+27676C>G (n.-49+27676C>G) c.831C>G (p.Thr277=) | |
| 22 | g.42693121G= | CA2406870125 | A4GALT,CYB5R3 | c.-49+27676C= (n.-49+27676C=) c.831C= (p.Thr277=) | |
| 22 | g.42693121G>T | CA515072067 | A4GALT,CYB5R3 | c.-49+27676C>A (n.-49+27676C>A) c.831C>A (p.Thr277=) | |
| 22 | g.42693122G>A | CA411810628 | A4GALT,CYB5R3 | c.-49+27675C>T (n.-49+27675C>T) c.830C>T (p.Thr277Ile) | |
| 22 | g.42693122G>C | CA411810630 | A4GALT,CYB5R3 | c.-49+27675C>G (n.-49+27675C>G) c.830C>G (p.Thr277Ser) | |
| 22 | g.42693122G>T | CA411810632 | A4GALT,CYB5R3 | c.-49+27675C>A (n.-49+27675C>A) c.830C>A (p.Thr277Asn) | |
| 22 | g.42693123T>A | CA411810634 | A4GALT,CYB5R3 | c.-49+27674A>T (n.-49+27674A>T) c.829A>T (p.Thr277Ser) | |
| 22 | g.42693123T>C | CA411810636 | A4GALT,CYB5R3 | c.-49+27674A>G (n.-49+27674A>G) c.829A>G (p.Thr277Ala) | |
| 22 | g.42693123T>G | CA411810637 | A4GALT,CYB5R3 | c.-49+27674A>C (n.-49+27674A>C) c.829A>C (p.Thr277Pro) | dbSNP |
| 22 | g.42693123T= | CA2406870126 | A4GALT,CYB5R3 | c.-49+27674A= (n.-49+27674A=) c.829A= (p.Thr277=) | |
| 22 | g.42693124G>A | CA515072072 | A4GALT,CYB5R3 | c.-49+27673C>T (n.-49+27673C>T) c.828C>T (p.Val276=) | |
| 22 | g.42693124G>C | CA515072074 | A4GALT,CYB5R3 | c.-49+27673C>G (n.-49+27673C>G) c.828C>G (p.Val276=) | |
| 22 | g.42693124G>T | CA515072076 | A4GALT,CYB5R3 | c.-49+27673C>A (n.-49+27673C>A) c.828C>A (p.Val276=) | |
| 22 | g.42693125A>C | CA411810640 | A4GALT,CYB5R3 | c.-49+27672T>G (n.-49+27672T>G) c.827T>G (p.Val276Gly) | |
| 22 | g.42693125A>G | CA411810642 | A4GALT,CYB5R3 | c.-49+27672T>C (n.-49+27672T>C) c.827T>C (p.Val276Ala) | dbSNP |
| 22 | g.42693125A>T | CA411810644 | A4GALT,CYB5R3 | c.-49+27672T>A (n.-49+27672T>A) c.827T>A (p.Val276Asp) | |
| 22 | g.42693126C>A | CA411810646 | A4GALT,CYB5R3 | c.-49+27671G>T (n.-49+27671G>T) c.826G>T (p.Val276Phe) | gnomAD v4 |
| 22 | g.42693126C= | CA2406870127 | A4GALT,CYB5R3 | c.-49+27671G= (n.-49+27671G=) c.826G= (p.Val276=) | |
| 22 | g.42693126C>G | CA411810648 | A4GALT,CYB5R3 | c.-49+27671G>C (n.-49+27671G>C) c.826G>C (p.Val276Leu) | |
| 22 | g.42693126C>T | CA10270199 | A4GALT,CYB5R3 | c.-49+27671G>A (n.-49+27671G>A) c.826G>A (p.Val276Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693127G>A | CA10270200 | A4GALT,CYB5R3 | c.-49+27670C>T (n.-49+27670C>T) c.825C>T (p.Gly275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693127G>C | CA515072083 | A4GALT,CYB5R3 | c.-49+27670C>G (n.-49+27670C>G) c.825C>G (p.Gly275=) | |
| 22 | g.42693127G= | CA2406870128 | A4GALT,CYB5R3 | c.-49+27670C= (n.-49+27670C=) c.825C= (p.Gly275=) | |
| 22 | g.42693127G>T | CA515072084 | A4GALT,CYB5R3 | c.-49+27670C>A (n.-49+27670C>A) c.825C>A (p.Gly275=) | gnomAD v4 |
| 22 | g.42693127_42693137del | CA2577739306 | A4GALT,CYB5R3 | c.-49+27660_-49+27670del (n.-49+27660_-49+27670del) c.815_825del (p.Ala272GlyfsTer7) | gnomAD v4 |
| 22 | g.42693128C>A | CA411810652 | A4GALT,CYB5R3 | c.-49+27669G>T (n.-49+27669G>T) c.824G>T (p.Gly275Val) | |
| 22 | g.42693128C= | CA2406870129 | A4GALT,CYB5R3 | c.-49+27669G= (n.-49+27669G=) c.824G= (p.Gly275=) | |
| 22 | g.42693128C>G | CA411810655 | A4GALT,CYB5R3 | c.-49+27669G>C (n.-49+27669G>C) c.824G>C (p.Gly275Ala) | |
| 22 | g.42693128C>T | CA10270201 | A4GALT,CYB5R3 | c.-49+27669G>A (n.-49+27669G>A) c.824G>A (p.Gly275Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693129C>A | CA411810658 | A4GALT,CYB5R3 | c.-49+27668G>T (n.-49+27668G>T) c.823G>T (p.Gly275Cys) | dbSNP gnomAD v2 |
| 22 | g.42693129C= | CA2406870130 | A4GALT,CYB5R3 | c.-49+27668G= (n.-49+27668G=) c.823G= (p.Gly275=) | |
| 22 | g.42693129C>G | CA411810660 | A4GALT,CYB5R3 | c.-49+27668G>C (n.-49+27668G>C) c.823G>C (p.Gly275Arg) | |
| 22 | g.42693129C>T | CA10270202 | A4GALT,CYB5R3 | c.-49+27668G>A (n.-49+27668G>A) c.823G>A (p.Gly275Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693130G>A | CA10270203 | A4GALT,CYB5R3 | c.-49+27667C>T (n.-49+27667C>T) c.822C>T (p.Arg274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693130G>C | CA515072098 | A4GALT,CYB5R3 | c.-49+27667C>G (n.-49+27667C>G) c.822C>G (p.Arg274=) | |
| 22 | g.42693130G= | CA2406870131 | A4GALT,CYB5R3 | c.-49+27667C= (n.-49+27667C=) c.822C= (p.Arg274=) | |
| 22 | g.42693130G>T | CA515072100 | A4GALT,CYB5R3 | c.-49+27667C>A (n.-49+27667C>A) c.822C>A (p.Arg274=) | |
| 22 | g.42693131C>A | CA411810665 | A4GALT,CYB5R3 | c.-49+27666G>T (n.-49+27666G>T) c.821G>T (p.Arg274Leu) | |
| 22 | g.42693131C= | CA2406870132 | A4GALT,CYB5R3 | c.-49+27666G= (n.-49+27666G=) c.821G= (p.Arg274=) | |
| 22 | g.42693131C>G | CA411810667 | A4GALT,CYB5R3 | c.-49+27666G>C (n.-49+27666G>C) c.821G>C (p.Arg274Pro) | |
| 22 | g.42693131C>T | CA10270204 | A4GALT,CYB5R3 | c.-49+27666G>A (n.-49+27666G>A) c.821G>A (p.Arg274His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.42693132G>A | CA10270205 | A4GALT,CYB5R3 | c.-49+27665C>T (n.-49+27665C>T) c.820C>T (p.Arg274Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693132G>C | CA411810672 | A4GALT,CYB5R3 | c.-49+27665C>G (n.-49+27665C>G) c.820C>G (p.Arg274Gly) | |
| 22 | g.42693132G= | CA2406870133 | A4GALT,CYB5R3 | c.-49+27665C= (n.-49+27665C=) c.820C= (p.Arg274=) | |
| 22 | g.42693132G>T | CA411810674 | A4GALT,CYB5R3 | c.-49+27665C>A (n.-49+27665C>A) c.820C>A (p.Arg274Ser) | |
| 22 | g.42693133G>A | CA515072108 | A4GALT,CYB5R3 | c.-49+27664C>T (n.-49+27664C>T) c.819C>T (p.Cys273=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693133G>C | CA411810677 | A4GALT,CYB5R3 | c.-49+27664C>G (n.-49+27664C>G) c.819C>G (p.Cys273Trp) | |
| 22 | g.42693133G= | CA2406870134 | A4GALT,CYB5R3 | c.-49+27664C= (n.-49+27664C=) c.819C= (p.Cys273=) | |
| 22 | g.42693133G>T | CA411810679 | A4GALT,CYB5R3 | c.-49+27664C>A (n.-49+27664C>A) c.819C>A (p.Cys273Ter) | |
| 22 | g.42693134C>A | CA411810681 | A4GALT,CYB5R3 | c.-49+27663G>T (n.-49+27663G>T) c.818G>T (p.Cys273Phe) | |
| 22 | g.42693134C= | CA2406870135 | A4GALT,CYB5R3 | c.-49+27663G= (n.-49+27663G=) c.818G= (p.Cys273=) | |
| 22 | g.42693134C>G | CA411810683 | A4GALT,CYB5R3 | c.-49+27663G>C (n.-49+27663G>C) c.818G>C (p.Cys273Ser) | |
| 22 | g.42693134C>T | CA411810685 | A4GALT,CYB5R3 | c.-49+27663G>A (n.-49+27663G>A) c.818G>A (p.Cys273Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693135A>C | CA411810688 | A4GALT,CYB5R3 | c.-49+27662T>G (n.-49+27662T>G) c.817T>G (p.Cys273Gly) | |
| 22 | g.42693135A>G | CA411810689 | A4GALT,CYB5R3 | c.-49+27662T>C (n.-49+27662T>C) c.817T>C (p.Cys273Arg) | |
| 22 | g.42693135A>T | CA411810691 | A4GALT,CYB5R3 | c.-49+27662T>A (n.-49+27662T>A) c.817T>A (p.Cys273Ser) | |
| 22 | g.42693136G>A | CA515072124 | A4GALT,CYB5R3 | c.-49+27661C>T (n.-49+27661C>T) c.816C>T (p.Ala272=) | |
| 22 | g.42693136G>C | CA515072129 | A4GALT,CYB5R3 | c.-49+27661C>G (n.-49+27661C>G) c.816C>G (p.Ala272=) | |
| 22 | g.42693136G>T | CA515072126 | A4GALT,CYB5R3 | c.-49+27661C>A (n.-49+27661C>A) c.816C>A (p.Ala272=) | |
| 22 | g.42693137G>A | CA411810692 | A4GALT,CYB5R3 | c.-49+27660C>T (n.-49+27660C>T) c.815C>T (p.Ala272Val) | |
| 22 | g.42693137G>C | CA411810694 | A4GALT,CYB5R3 | c.-49+27660C>G (n.-49+27660C>G) c.815C>G (p.Ala272Gly) | |
| 22 | g.42693137G= | CA2406870136 | A4GALT,CYB5R3 | c.-49+27660C= (n.-49+27660C=) c.815C= (p.Ala272=) | |
| 22 | g.42693137G>T | CA10270206 | A4GALT,CYB5R3 | c.-49+27660C>A (n.-49+27660C>A) c.815C>A (p.Ala272Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693138C>A | CA411810698 | A4GALT,CYB5R3 | c.-49+27659G>T (n.-49+27659G>T) c.814G>T (p.Ala272Ser) | dbSNP |
| 22 | g.42693138C= | CA2406870137 | A4GALT,CYB5R3 | c.-49+27659G= (n.-49+27659G=) c.814G= (p.Ala272=) | |
| 22 | g.42693138C>G | CA411810699 | A4GALT,CYB5R3 | c.-49+27659G>C (n.-49+27659G>C) c.814G>C (p.Ala272Pro) | |
| 22 | g.42693138C>T | CA411810701 | A4GALT,CYB5R3 | c.-49+27659G>A (n.-49+27659G>A) c.814G>A (p.Ala272Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693139_42693145del | CA2657079351 | A4GALT,CYB5R3 | c.-49+27653_-49+27659del (n.-49+27653_-49+27659del) c.808_814del (p.Ser270ProfsTer?) | gnomAD v4 |
| 22 | g.42693139G>A | CA515072139 | A4GALT,CYB5R3 | c.-49+27658C>T (n.-49+27658C>T) c.813C>T (p.Arg271=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.42693139G>C | CA515072140 | A4GALT,CYB5R3 | c.-49+27658C>G (n.-49+27658C>G) c.813C>G (p.Arg271=) | |
| 22 | g.42693139G= | CA2406870138 | A4GALT,CYB5R3 | c.-49+27658C= (n.-49+27658C=) c.813C= (p.Arg271=) | |
| 22 | g.42693139G>T | CA515072143 | A4GALT,CYB5R3 | c.-49+27658C>A (n.-49+27658C>A) c.813C>A (p.Arg271=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693140C>A | CA411810707 | A4GALT,CYB5R3 | c.-49+27657G>T (n.-49+27657G>T) c.812G>T (p.Arg271Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693140C= | CA2406870139 | A4GALT,CYB5R3 | c.-49+27657G= (n.-49+27657G=) c.812G= (p.Arg271=) | |
| 22 | g.42693140C>G | CA411810705 | A4GALT,CYB5R3 | c.-49+27657G>C (n.-49+27657G>C) c.812G>C (p.Arg271Pro) | |
| 22 | g.42693140C>T | CA411810704 | A4GALT,CYB5R3 | c.-49+27657G>A (n.-49+27657G>A) c.812G>A (p.Arg271His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693141G>A | CA411810708 | A4GALT,CYB5R3 | c.-49+27656C>T (n.-49+27656C>T) c.811C>T (p.Arg271Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693141G>C | CA411810711 | A4GALT,CYB5R3 | c.-49+27656C>G (n.-49+27656C>G) c.811C>G (p.Arg271Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693141G= | CA2406870140 | A4GALT,CYB5R3 | c.-49+27656C= (n.-49+27656C=) c.811C= (p.Arg271=) | |
| 22 | g.42693141G>T | CA10270207 | A4GALT,CYB5R3 | c.-49+27656C>A (n.-49+27656C>A) c.811C>A (p.Arg271Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693142G>A | CA515072154 | A4GALT,CYB5R3 | c.-49+27655C>T (n.-49+27655C>T) c.810C>T (p.Ser270=) | gnomAD v4 |
| 22 | g.42693142G>C | CA411810714 | A4GALT,CYB5R3 | c.-49+27655C>G (n.-49+27655C>G) c.810C>G (p.Ser270Arg) | |
| 22 | g.42693142G>T | CA411810716 | A4GALT,CYB5R3 | c.-49+27655C>A (n.-49+27655C>A) c.810C>A (p.Ser270Arg) | |
| 22 | g.42693143C>A | CA411810718 | A4GALT,CYB5R3 | c.-49+27654G>T (n.-49+27654G>T) c.809G>T (p.Ser270Ile) | gnomAD v4 |
| 22 | g.42693143C= | CA2406870141 | A4GALT,CYB5R3 | c.-49+27654G= (n.-49+27654G=) c.809G= (p.Ser270=) | |
| 22 | g.42693143C>G | CA411810720 | A4GALT,CYB5R3 | c.-49+27654G>C (n.-49+27654G>C) c.809G>C (p.Ser270Thr) | |
| 22 | g.42693143C>T | CA411810722 | A4GALT,CYB5R3 | c.-49+27654G>A (n.-49+27654G>A) c.809G>A (p.Ser270Asn) | dbSNP gnomAD v2 |
| 22 | g.42693144T>A | CA411810725 | A4GALT,CYB5R3 | c.-49+27653A>T (n.-49+27653A>T) c.808A>T (p.Ser270Cys) | |
| 22 | g.42693144T>C | CA411810727 | A4GALT,CYB5R3 | c.-49+27653A>G (n.-49+27653A>G) c.808A>G (p.Ser270Gly) | |
| 22 | g.42693144T>G | CA411810728 | A4GALT,CYB5R3 | c.-49+27653A>C (n.-49+27653A>C) c.808A>C (p.Ser270Arg) | |
| 22 | g.42693145C>A | CA411810730 | A4GALT,CYB5R3 | c.-49+27652G>T (n.-49+27652G>T) c.807G>T (p.Glu269Asp) | |
| 22 | g.42693145C>G | CA411810732 | A4GALT,CYB5R3 | c.-49+27652G>C (n.-49+27652G>C) c.807G>C (p.Glu269Asp) | |
| 22 | g.42693145C>T | CA515072169 | A4GALT,CYB5R3 | c.-49+27652G>A (n.-49+27652G>A) c.807G>A (p.Glu269=) | |
| 22 | g.42693146T>A | CA411810737 | A4GALT,CYB5R3 | c.-49+27651A>T (n.-49+27651A>T) c.806A>T (p.Glu269Val) | |
| 22 | g.42693146T>C | CA411810739 | A4GALT,CYB5R3 | c.-49+27651A>G (n.-49+27651A>G) c.806A>G (p.Glu269Gly) | |
| 22 | g.42693146T>G | CA411810735 | A4GALT,CYB5R3 | c.-49+27651A>C (n.-49+27651A>C) c.806A>C (p.Glu269Ala) | |
| 22 | g.42693147del | CA2561673320 | A4GALT,CYB5R3 | c.-49+27650del (n.-49+27650del) c.805del (p.Glu269ArgfsTer?) | |
| 22 | g.42693147C>A | CA411810741 | A4GALT,CYB5R3 | c.-49+27650G>T (n.-49+27650G>T) c.805G>T (p.Glu269Ter) | |
| 22 | g.42693147C= | CA2406870142 | A4GALT,CYB5R3 | c.-49+27650G= (n.-49+27650G=) c.805G= (p.Glu269=) | |
| 22 | g.42693147C>G | CA411810743 | A4GALT,CYB5R3 | c.-49+27650G>C (n.-49+27650G>C) c.805G>C (p.Glu269Gln) | |
| 22 | g.42693147C>T | CA10270208 | A4GALT,CYB5R3 | c.-49+27650G>A (n.-49+27650G>A) c.805G>A (p.Glu269Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.42693148G>A | CA515072177 | A4GALT,CYB5R3 | c.-49+27649C>T (n.-49+27649C>T) c.804C>T (p.Ala268=) | gnomAD v4 |
| 22 | g.42693148G>C | CA324732181 | A4GALT,CYB5R3 | c.-49+27649C>G (n.-49+27649C>G) c.804C>G (p.Ala268=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693148G= | CA2406870143 | A4GALT,CYB5R3 | c.-49+27649C= (n.-49+27649C=) c.804C= (p.Ala268=) | |
| 22 | g.42693148G>T | CA515072180 | A4GALT,CYB5R3 | c.-49+27649C>A (n.-49+27649C>A) c.804C>A (p.Ala268=) | |
| 22 | g.42693149G>A | CA411810746 | A4GALT,CYB5R3 | c.-49+27648C>T (n.-49+27648C>T) c.803C>T (p.Ala268Val) | |
| 22 | g.42693149G>C | CA411810748 | A4GALT,CYB5R3 | c.-49+27648C>G (n.-49+27648C>G) c.803C>G (p.Ala268Gly) | gnomAD v4 |
| 22 | g.42693149G>T | CA411810750 | A4GALT,CYB5R3 | c.-49+27648C>A (n.-49+27648C>A) c.803C>A (p.Ala268Asp) | |
| 22 | g.42693150C>A | CA411810751 | A4GALT,CYB5R3 | c.-49+27647G>T (n.-49+27647G>T) c.802G>T (p.Ala268Ser) | |
| 22 | g.42693150C>G | CA411810753 | A4GALT,CYB5R3 | c.-49+27647G>C (n.-49+27647G>C) c.802G>C (p.Ala268Pro) | |
| 22 | g.42693150C>T | CA411810755 | A4GALT,CYB5R3 | c.-49+27647G>A (n.-49+27647G>A) c.802G>A (p.Ala268Thr) | |
| 22 | g.42693150_42693151insG | CA2567588268 | A4GALT,CYB5R3 | c.-49+27646_-49+27647insC (n.-49+27646_-49+27647insC) c.801_802insC (p.Ala268ArgfsTer15) | |
| 22 | g.42693151C>A | CA515072194 | A4GALT,CYB5R3 | c.-49+27646G>T (n.-49+27646G>T) c.801G>T (p.Leu267=) | |
| 22 | g.42693151C>G | CA515072195 | A4GALT,CYB5R3 | c.-49+27646G>C (n.-49+27646G>C) c.801G>C (p.Leu267=) | gnomAD v4 |
| 22 | g.42693151C>T | CA515072197 | A4GALT,CYB5R3 | c.-49+27646G>A (n.-49+27646G>A) c.801G>A (p.Leu267=) | |
| 22 | g.42693152A>C | CA411810757 | A4GALT,CYB5R3 | c.-49+27645T>G (n.-49+27645T>G) c.800T>G (p.Leu267Arg) | |
| 22 | g.42693152A>G | CA411810759 | A4GALT,CYB5R3 | c.-49+27645T>C (n.-49+27645T>C) c.800T>C (p.Leu267Pro) | gnomAD v4 |
| 22 | g.42693152A>T | CA411810761 | A4GALT,CYB5R3 | c.-49+27645T>A (n.-49+27645T>A) c.800T>A (p.Leu267Gln) | gnomAD v4 |
| 22 | g.42693152_42693162delinsAGGCTGCGGAT | CA2406870144 | A4GALT,CYB5R3 | c.-49+27635_-49+27645delinsATCCGCAGCCT (n.-49+27635_-49+27645delinsATCCGCAGCCT) c.790_800delinsATCCGCAGCCT (p.Ile264=) | |
| 22 | g.42693153G>A | CA515072205 | A4GALT,CYB5R3 | c.-49+27644C>T (n.-49+27644C>T) c.799C>T (p.Leu267=) | dbSNP gnomAD v2 |
| 22 | g.42693153G>C | CA411810762 | A4GALT,CYB5R3 | c.-49+27644C>G (n.-49+27644C>G) c.799C>G (p.Leu267Val) | |
| 22 | g.42693153G= | CA2406870145 | A4GALT,CYB5R3 | c.-49+27644C= (n.-49+27644C=) c.799C= (p.Leu267=) | |
| 22 | g.42693153G>T | CA411810764 | A4GALT,CYB5R3 | c.-49+27644C>A (n.-49+27644C>A) c.799C>A (p.Leu267Met) | |
| 22 | g.42693155_42693164del | CA753383075 | A4GALT,CYB5R3 | c.-49+27635_-49+27644del (n.-49+27635_-49+27644del) c.790_799del (p.Ile264TrpfsTer?) | dbSNP |
| 22 | g.42693154G>A | CA515072209 | A4GALT,CYB5R3 | c.-49+27643C>T (n.-49+27643C>T) c.798C>T (p.Ser266=) | |
| 22 | g.42693154G>C | CA10270209 | A4GALT,CYB5R3 | c.-49+27643C>G (n.-49+27643C>G) c.798C>G (p.Ser266Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693154G= | CA2406870146 | A4GALT,CYB5R3 | c.-49+27643C= (n.-49+27643C=) c.798C= (p.Ser266=) | |
| 22 | g.42693154G>T | CA411810767 | A4GALT,CYB5R3 | c.-49+27643C>A (n.-49+27643C>A) c.798C>A (p.Ser266Arg) | dbSNP gnomAD v4 |
| 22 | g.42693155C>A | CA411810769 | A4GALT,CYB5R3 | c.-49+27642G>T (n.-49+27642G>T) c.797G>T (p.Ser266Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693155C= | CA2406870147 | A4GALT,CYB5R3 | c.-49+27642G= (n.-49+27642G=) c.797G= (p.Ser266=) | |
| 22 | g.42693155C>G | CA411810770 | A4GALT,CYB5R3 | c.-49+27642G>C (n.-49+27642G>C) c.797G>C (p.Ser266Thr) | |
| 22 | g.42693155C>T | CA411810771 | A4GALT,CYB5R3 | c.-49+27642G>A (n.-49+27642G>A) c.797G>A (p.Ser266Asn) | |
| 22 | g.42693156T>A | CA411810773 | A4GALT,CYB5R3 | c.-49+27641A>T (n.-49+27641A>T) c.796A>T (p.Ser266Cys) | |
| 22 | g.42693156T>C | CA411810775 | A4GALT,CYB5R3 | c.-49+27641A>G (n.-49+27641A>G) c.796A>G (p.Ser266Gly) | |
| 22 | g.42693156T>G | CA411810777 | A4GALT,CYB5R3 | c.-49+27641A>C (n.-49+27641A>C) c.796A>C (p.Ser266Arg) | |
| 22 | g.42693157G>A | CA10270210 | A4GALT,CYB5R3 | c.-49+27640C>T (n.-49+27640C>T) c.795C>T (p.Arg265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693157G>C | CA515072226 | A4GALT,CYB5R3 | c.-49+27640C>G (n.-49+27640C>G) c.795C>G (p.Arg265=) | |
| 22 | g.42693157G= | CA2406870148 | A4GALT,CYB5R3 | c.-49+27640C= (n.-49+27640C=) c.795C= (p.Arg265=) | |
| 22 | g.42693157G>T | CA515072223 | A4GALT,CYB5R3 | c.-49+27640C>A (n.-49+27640C>A) c.795C>A (p.Arg265=) | |
| 22 | g.42693158C>A | CA10270212 | A4GALT,CYB5R3 | c.-49+27639G>T (n.-49+27639G>T) c.794G>T (p.Arg265Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693158C= | CA2406870149 | A4GALT,CYB5R3 | c.-49+27639G= (n.-49+27639G=) c.794G= (p.Arg265=) | |
| 22 | g.42693158C>G | CA411810783 | A4GALT,CYB5R3 | c.-49+27639G>C (n.-49+27639G>C) c.794G>C (p.Arg265Pro) | |
| 22 | g.42693158C>T | CA10270211 | A4GALT,CYB5R3 | c.-49+27639G>A (n.-49+27639G>A) c.794G>A (p.Arg265His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693159G>A | CA10270213 | A4GALT,CYB5R3 | c.-49+27638C>T (n.-49+27638C>T) c.793C>T (p.Arg265Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693159G>C | CA411810787 | A4GALT,CYB5R3 | c.-49+27638C>G (n.-49+27638C>G) c.793C>G (p.Arg265Gly) | gnomAD v4 |
| 22 | g.42693159G= | CA2406870150 | A4GALT,CYB5R3 | c.-49+27638C= (n.-49+27638C=) c.793C= (p.Arg265=) | |
| 22 | g.42693159G>T | CA411810788 | A4GALT,CYB5R3 | c.-49+27638C>A (n.-49+27638C>A) c.793C>A (p.Arg265Ser) | gnomAD v4 |
| 22 | g.42693160G>A | CA515072246 | A4GALT,CYB5R3 | c.-49+27637C>T (n.-49+27637C>T) c.792C>T (p.Ile264=) | gnomAD v4 |
| 22 | g.42693160G>C | CA411810791 | A4GALT,CYB5R3 | c.-49+27637C>G (n.-49+27637C>G) c.792C>G (p.Ile264Met) | |
| 22 | g.42693160G>T | CA515072248 | A4GALT,CYB5R3 | c.-49+27637C>A (n.-49+27637C>A) c.792C>A (p.Ile264=) | gnomAD v4 |
| 22 | g.42693161A= | CA2406870151 | A4GALT,CYB5R3 | c.-49+27636T= (n.-49+27636T=) c.791T= (p.Ile264=) | |
| 22 | g.42693161A>C | CA411810793 | A4GALT,CYB5R3 | c.-49+27636T>G (n.-49+27636T>G) c.791T>G (p.Ile264Ser) | gnomAD v4 |
| 22 | g.42693161A>G | CA411810796 | A4GALT,CYB5R3 | c.-49+27636T>C (n.-49+27636T>C) c.791T>C (p.Ile264Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693161A>T | CA411810794 | A4GALT,CYB5R3 | c.-49+27636T>A (n.-49+27636T>A) c.791T>A (p.Ile264Asn) | gnomAD v4 |
| 22 | g.42693162T>A | CA411810797 | A4GALT,CYB5R3 | c.-49+27635A>T (n.-49+27635A>T) c.790A>T (p.Ile264Phe) | |
| 22 | g.42693162T>C | CA411810799 | A4GALT,CYB5R3 | c.-49+27635A>G (n.-49+27635A>G) c.790A>G (p.Ile264Val) | gnomAD v4 |
| 22 | g.42693162T>G | CA411810801 | A4GALT,CYB5R3 | c.-49+27635A>C (n.-49+27635A>C) c.790A>C (p.Ile264Leu) | |
| 22 | g.42693163G>A | CA10270214 | A4GALT,CYB5R3 | c.-49+27634C>T (n.-49+27634C>T) c.789C>T (p.Ser263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693163G>C | CA515072260 | A4GALT,CYB5R3 | c.-49+27634C>G (n.-49+27634C>G) c.789C>G (p.Ser263=) | |
| 22 | g.42693163G= | CA2406870152 | A4GALT,CYB5R3 | c.-49+27634C= (n.-49+27634C=) c.789C= (p.Ser263=) | |
| 22 | g.42693163G>T | CA515072263 | A4GALT,CYB5R3 | c.-49+27634C>A (n.-49+27634C>A) c.789C>A (p.Ser263=) | gnomAD v4 |
| 22 | g.42693164G>A | CA411810804 | A4GALT,CYB5R3 | c.-49+27633C>T (n.-49+27633C>T) c.788C>T (p.Ser263Phe) | dbSNP |
| 22 | g.42693164G>C | CA411810806 | A4GALT,CYB5R3 | c.-49+27633C>G (n.-49+27633C>G) c.788C>G (p.Ser263Cys) | |
| 22 | g.42693164G= | CA2406870153 | A4GALT,CYB5R3 | c.-49+27633C= (n.-49+27633C=) c.788C= (p.Ser263=) | |
| 22 | g.42693164G>T | CA411810807 | A4GALT,CYB5R3 | c.-49+27633C>A (n.-49+27633C>A) c.788C>A (p.Ser263Tyr) | gnomAD v4 |
| 22 | g.42693165A= | CA2406870154 | A4GALT,CYB5R3 | c.-49+27632T= (n.-49+27632T=) c.787T= (p.Ser263=) | |
| 22 | g.42693165A>C | CA411810809 | A4GALT,CYB5R3 | c.-49+27632T>G (n.-49+27632T>G) c.787T>G (p.Ser263Ala) | dbSNP gnomAD v4 |
| 22 | g.42693165A>G | CA411810810 | A4GALT,CYB5R3 | c.-49+27632T>C (n.-49+27632T>C) c.787T>C (p.Ser263Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693165A>T | CA411810812 | A4GALT,CYB5R3 | c.-49+27632T>A (n.-49+27632T>A) c.787T>A (p.Ser263Thr) | |
| 22 | g.42693166A>C | CA411810814 | A4GALT,CYB5R3 | c.-49+27631T>G (n.-49+27631T>G) c.786T>G (p.Cys262Trp) | |
| 22 | g.42693166A>G | CA515072280 | A4GALT,CYB5R3 | c.-49+27631T>C (n.-49+27631T>C) c.786T>C (p.Cys262=) | |
| 22 | g.42693166A>T | CA411810816 | A4GALT,CYB5R3 | c.-49+27631T>A (n.-49+27631T>A) c.786T>A (p.Cys262Ter) | gnomAD v4 |
| 22 | g.42693166_42693169delinsACAC | CA2406870155 | A4GALT,CYB5R3 | c.-49+27628_-49+27631delinsGTGT (n.-49+27628_-49+27631delinsGTGT) c.783_786delinsGTGT (p.Trp261=) | |
| 22 | g.42693167C>A | CA411810822 | A4GALT,CYB5R3 | c.-49+27630G>T (n.-49+27630G>T) c.785G>T (p.Cys262Phe) | |
| 22 | g.42693167C= | CA2406870156 | A4GALT,CYB5R3 | c.-49+27630G= (n.-49+27630G=) c.785G= (p.Cys262=) | |
| 22 | g.42693167C>G | CA411810821 | A4GALT,CYB5R3 | c.-49+27630G>C (n.-49+27630G>C) c.785G>C (p.Cys262Ser) | |
| 22 | g.42693167C>T | CA10270216 | A4GALT,CYB5R3 | c.-49+27630G>A (n.-49+27630G>A) c.785G>A (p.Cys262Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693170_42693172del | CA10270215 | A4GALT,CYB5R3 | c.-49+27628_-49+27630del (n.-49+27628_-49+27630del) c.783_785del (p.Trp261del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693168A= | CA2406870157 | A4GALT,CYB5R3 | c.-49+27629T= (n.-49+27629T=) c.784T= (p.Cys262=) | |
| 22 | g.42693168A>C | CA411810823 | A4GALT,CYB5R3 | c.-49+27629T>G (n.-49+27629T>G) c.784T>G (p.Cys262Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693168A>G | CA411810826 | A4GALT,CYB5R3 | c.-49+27629T>C (n.-49+27629T>C) c.784T>C (p.Cys262Arg) | |
| 22 | g.42693168A>T | CA411810827 | A4GALT,CYB5R3 | c.-49+27629T>A (n.-49+27629T>A) c.784T>A (p.Cys262Ser) | |
| 22 | g.42693169C>A | CA411810830 | A4GALT,CYB5R3 | c.-49+27628G>T (n.-49+27628G>T) c.783G>T (p.Trp261Cys) | |
| 22 | g.42693169C= | CA2406870158 | A4GALT,CYB5R3 | c.-49+27628G= (n.-49+27628G=) c.783G= (p.Trp261=) | |
| 22 | g.42693169C>G | CA10270217 | A4GALT,CYB5R3 | c.-49+27628G>C (n.-49+27628G>C) c.783G>C (p.Trp261Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693169C>T | CA115687 | A4GALT,CYB5R3 | c.-49+27628G>A (n.-49+27628G>A) c.783G>A (p.Trp261Ter) | ClinVar dbSNP |
| 22 | g.42693170C>A | CA411810834 | A4GALT,CYB5R3 | c.-49+27627G>T (n.-49+27627G>T) c.782G>T (p.Trp261Leu) | |
| 22 | g.42693170C>G | CA411810835 | A4GALT,CYB5R3 | c.-49+27627G>C (n.-49+27627G>C) c.782G>C (p.Trp261Ser) | |
| 22 | g.42693170C>T | CA411810837 | A4GALT,CYB5R3 | c.-49+27627G>A (n.-49+27627G>A) c.782G>A (p.Trp261Ter) | gnomAD v4 |
| 22 | g.42693171A>C | CA411810839 | A4GALT,CYB5R3 | c.-49+27626T>G (n.-49+27626T>G) c.781T>G (p.Trp261Gly) | |
| 22 | g.42693171A>G | CA411810841 | A4GALT,CYB5R3 | c.-49+27626T>C (n.-49+27626T>C) c.781T>C (p.Trp261Arg) | |
| 22 | g.42693171A>T | CA411810843 | A4GALT,CYB5R3 | c.-49+27626T>A (n.-49+27626T>A) c.781T>A (p.Trp261Arg) | |
| 22 | g.42693172C>A | CA411810846 | A4GALT,CYB5R3 | c.-49+27625G>T (n.-49+27625G>T) c.780G>T (p.Lys260Asn) | |
| 22 | g.42693172C= | CA2406870159 | A4GALT,CYB5R3 | c.-49+27625G= (n.-49+27625G=) c.780G= (p.Lys260=) | |
| 22 | g.42693172C>G | CA411810850 | A4GALT,CYB5R3 | c.-49+27625G>C (n.-49+27625G>C) c.780G>C (p.Lys260Asn) | |
| 22 | g.42693172C>T | CA10270218 | A4GALT,CYB5R3 | c.-49+27625G>A (n.-49+27625G>A) c.780G>A (p.Lys260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693175_42693177del | CA2657079410 | A4GALT,CYB5R3 | c.-49+27623_-49+27625del (n.-49+27623_-49+27625del) c.778_780del (p.Lys260del) | gnomAD v4 |
| 22 | g.42693173T>A | CA411810852 | A4GALT,CYB5R3 | c.-49+27624A>T (n.-49+27624A>T) c.779A>T (p.Lys260Met) | |
| 22 | g.42693173T>C | CA411810854 | A4GALT,CYB5R3 | c.-49+27624A>G (n.-49+27624A>G) c.779A>G (p.Lys260Arg) | |
| 22 | g.42693173T>G | CA411810856 | A4GALT,CYB5R3 | c.-49+27624A>C (n.-49+27624A>C) c.779A>C (p.Lys260Thr) | |
| 22 | g.42693174T>A | CA411810859 | A4GALT,CYB5R3 | c.-49+27623A>T (n.-49+27623A>T) c.778A>T (p.Lys260Ter) | |
| 22 | g.42693174T>C | CA411810860 | A4GALT,CYB5R3 | c.-49+27623A>G (n.-49+27623A>G) c.778A>G (p.Lys260Glu) | |
| 22 | g.42693174T>G | CA411810862 | A4GALT,CYB5R3 | c.-49+27623A>C (n.-49+27623A>C) c.778A>C (p.Lys260Gln) | |
| 22 | g.42693175C>A | CA411810867 | A4GALT,CYB5R3 | c.-49+27622G>T (n.-49+27622G>T) c.777G>T (p.Lys259Asn) | gnomAD v4 COSMIC |
| 22 | g.42693175C= | CA2406870160 | A4GALT,CYB5R3 | c.-49+27622G= (n.-49+27622G=) c.777G= (p.Lys259=) | |
| 22 | g.42693175C>G | CA411810865 | A4GALT,CYB5R3 | c.-49+27622G>C (n.-49+27622G>C) c.777G>C (p.Lys259Asn) | |
| 22 | g.42693175C>T | CA515072337 | A4GALT,CYB5R3 | c.-49+27622G>A (n.-49+27622G>A) c.777G>A (p.Lys259=) | dbSNP gnomAD v2 |
| 22 | g.42693176T>A | CA411810869 | A4GALT,CYB5R3 | c.-49+27621A>T (n.-49+27621A>T) c.776A>T (p.Lys259Met) | |
| 22 | g.42693176T>C | CA411810871 | A4GALT,CYB5R3 | c.-49+27621A>G (n.-49+27621A>G) c.776A>G (p.Lys259Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.42693176T>G | CA411810873 | A4GALT,CYB5R3 | c.-49+27621A>C (n.-49+27621A>C) c.776A>C (p.Lys259Thr) |