| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693226G>A | CA10270229 | A4GALT,CYB5R3 | c.-49+27571C>T (n.-49+27571C>T) c.726C>T (p.Asn242=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693226G>C | CA411811493 | A4GALT,CYB5R3 | c.-49+27571C>G (n.-49+27571C>G) c.726C>G (p.Asn242Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693226G= | CA2406870185 | A4GALT,CYB5R3 | c.-49+27571C= (n.-49+27571C=) c.726C= (p.Asn242=) | |
| 22 | g.42693226G>T | CA411811494 | A4GALT,CYB5R3 | c.-49+27571C>A (n.-49+27571C>A) c.726C>A (p.Asn242Lys) | gnomAD v4 |
| 22 | g.42693227T>A | CA411811496 | A4GALT,CYB5R3 | c.-49+27570A>T (n.-49+27570A>T) c.725A>T (p.Asn242Ile) | |
| 22 | g.42693227T>C | CA10270230 | A4GALT,CYB5R3 | c.-49+27570A>G (n.-49+27570A>G) c.725A>G (p.Asn242Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.42693227T>G | CA411811495 | A4GALT,CYB5R3 | c.-49+27570A>C (n.-49+27570A>C) c.725A>C (p.Asn242Thr) | |
| 22 | g.42693227T= | CA2406870186 | A4GALT,CYB5R3 | c.-49+27570A= (n.-49+27570A=) c.725A= (p.Asn242=) | |
| 22 | g.42693228T>A | CA411811497 | A4GALT,CYB5R3 | c.-49+27569A>T (n.-49+27569A>T) c.724A>T (p.Asn242Tyr) | |
| 22 | g.42693228T>C | CA411811498 | A4GALT,CYB5R3 | c.-49+27569A>G (n.-49+27569A>G) c.724A>G (p.Asn242Asp) | dbSNP |
| 22 | g.42693228T>G | CA411811499 | A4GALT,CYB5R3 | c.-49+27569A>C (n.-49+27569A>C) c.724A>C (p.Asn242His) | |
| 22 | g.42693228T= | CA2406870187 | A4GALT,CYB5R3 | c.-49+27569A= (n.-49+27569A=) c.724A= (p.Asn242=) | |
| 22 | g.42693229G>A | CA515070852 | A4GALT,CYB5R3 | c.-49+27568C>T (n.-49+27568C>T) c.723C>T (p.Tyr241=) | gnomAD v4 |
| 22 | g.42693229G>C | CA411811500 | A4GALT,CYB5R3 | c.-49+27568C>G (n.-49+27568C>G) c.723C>G (p.Tyr241Ter) | gnomAD v4 |
| 22 | g.42693229G= | CA2406870188 | A4GALT,CYB5R3 | c.-49+27568C= (n.-49+27568C=) c.723C= (p.Tyr241=) | |
| 22 | g.42693229G>T | CA411811501 | A4GALT,CYB5R3 | c.-49+27568C>A (n.-49+27568C>A) c.723C>A (p.Tyr241Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693230T>A | CA411811504 | A4GALT,CYB5R3 | c.-49+27567A>T (n.-49+27567A>T) c.722A>T (p.Tyr241Phe) | |
| 22 | g.42693230T>C | CA411811502 | A4GALT,CYB5R3 | c.-49+27567A>G (n.-49+27567A>G) c.722A>G (p.Tyr241Cys) | gnomAD v4 |
| 22 | g.42693230T>G | CA411811503 | A4GALT,CYB5R3 | c.-49+27567A>C (n.-49+27567A>C) c.722A>C (p.Tyr241Ser) | |
| 22 | g.42693231A>C | CA411811506 | A4GALT,CYB5R3 | c.-49+27566T>G (n.-49+27566T>G) c.721T>G (p.Tyr241Asp) | gnomAD v4 |
| 22 | g.42693231A>G | CA411811508 | A4GALT,CYB5R3 | c.-49+27566T>C (n.-49+27566T>C) c.721T>C (p.Tyr241His) | |
| 22 | g.42693231A>T | CA411811510 | A4GALT,CYB5R3 | c.-49+27566T>A (n.-49+27566T>A) c.721T>A (p.Tyr241Asn) | |
| 22 | g.42693232G>A | CA515070855 | A4GALT,CYB5R3 | c.-49+27565C>T (n.-49+27565C>T) c.720C>T (p.His240=) | |
| 22 | g.42693232G>C | CA411811511 | A4GALT,CYB5R3 | c.-49+27565C>G (n.-49+27565C>G) c.720C>G (p.His240Gln) | |
| 22 | g.42693232G>T | CA411811514 | A4GALT,CYB5R3 | c.-49+27565C>A (n.-49+27565C>A) c.720C>A (p.His240Gln) | gnomAD v4 |
| 22 | g.42693233T>A | CA411811516 | A4GALT,CYB5R3 | c.-49+27564A>T (n.-49+27564A>T) c.719A>T (p.His240Leu) | |
| 22 | g.42693233T>C | CA411811518 | A4GALT,CYB5R3 | c.-49+27564A>G (n.-49+27564A>G) c.719A>G (p.His240Arg) | dbSNP gnomAD v2 |
| 22 | g.42693233T>G | CA411811520 | A4GALT,CYB5R3 | c.-49+27564A>C (n.-49+27564A>C) c.719A>C (p.His240Pro) | |
| 22 | g.42693233T= | CA2406870189 | A4GALT,CYB5R3 | c.-49+27564A= (n.-49+27564A=) c.719A= (p.His240=) | |
| 22 | g.42693234G>A | CA411811522 | A4GALT,CYB5R3 | c.-49+27563C>T (n.-49+27563C>T) c.718C>T (p.His240Tyr) | dbSNP gnomAD v4 |
| 22 | g.42693234G>C | CA411811524 | A4GALT,CYB5R3 | c.-49+27563C>G (n.-49+27563C>G) c.718C>G (p.His240Asp) | |
| 22 | g.42693234G= | CA2406870190 | A4GALT,CYB5R3 | c.-49+27563C= (n.-49+27563C=) c.718C= (p.His240=) | |
| 22 | g.42693234G>T | CA10270231 | A4GALT,CYB5R3 | c.-49+27563C>A (n.-49+27563C>A) c.718C>A (p.His240Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693235G>A | CA515070858 | A4GALT,CYB5R3 | c.-49+27562C>T (n.-49+27562C>T) c.717C>T (p.Asp239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693235G>C | CA411811528 | A4GALT,CYB5R3 | c.-49+27562C>G (n.-49+27562C>G) c.717C>G (p.Asp239Glu) | |
| 22 | g.42693235G= | CA2406870191 | A4GALT,CYB5R3 | c.-49+27562C= (n.-49+27562C=) c.717C= (p.Asp239=) | |
| 22 | g.42693235G>T | CA411811530 | A4GALT,CYB5R3 | c.-49+27562C>A (n.-49+27562C>A) c.717C>A (p.Asp239Glu) | |
| 22 | g.42693236T>A | CA411811532 | A4GALT,CYB5R3 | c.-49+27561A>T (n.-49+27561A>T) c.716A>T (p.Asp239Val) | |
| 22 | g.42693236T>C | CA411811536 | A4GALT,CYB5R3 | c.-49+27561A>G (n.-49+27561A>G) c.716A>G (p.Asp239Gly) | |
| 22 | g.42693236T>G | CA411811534 | A4GALT,CYB5R3 | c.-49+27561A>C (n.-49+27561A>C) c.716A>C (p.Asp239Ala) | |
| 22 | g.42693237C>A | CA411811538 | A4GALT,CYB5R3 | c.-49+27560G>T (n.-49+27560G>T) c.715G>T (p.Asp239Tyr) | |
| 22 | g.42693237C>G | CA411811540 | A4GALT,CYB5R3 | c.-49+27560G>C (n.-49+27560G>C) c.715G>C (p.Asp239His) | |
| 22 | g.42693237C>T | CA411811542 | A4GALT,CYB5R3 | c.-49+27560G>A (n.-49+27560G>A) c.715G>A (p.Asp239Asn) | |
| 22 | g.42693238C>A | CA10270232 | A4GALT,CYB5R3 | c.-49+27559G>T (n.-49+27559G>T) c.714G>T (p.Val238=) | dbSNP ExAC gnomAD v2 |
| 22 | g.42693238C= | CA2406870192 | A4GALT,CYB5R3 | c.-49+27559G= (n.-49+27559G=) c.714G= (p.Val238=) | |
| 22 | g.42693238C>G | CA515070866 | A4GALT,CYB5R3 | c.-49+27559G>C (n.-49+27559G>C) c.714G>C (p.Val238=) | |
| 22 | g.42693238C>T | CA515070868 | A4GALT,CYB5R3 | c.-49+27559G>A (n.-49+27559G>A) c.714G>A (p.Val238=) | dbSNP |
| 22 | g.42693239A= | CA2406870193 | A4GALT,CYB5R3 | c.-49+27558T= (n.-49+27558T=) c.713T= (p.Val238=) | |
| 22 | g.42693239A>C | CA411811546 | A4GALT,CYB5R3 | c.-49+27558T>G (n.-49+27558T>G) c.713T>G (p.Val238Gly) | gnomAD v4 |
| 22 | g.42693239A>G | CA411811547 | A4GALT,CYB5R3 | c.-49+27558T>C (n.-49+27558T>C) c.713T>C (p.Val238Ala) | dbSNP gnomAD v3 gnomAD v4 |