| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.42693201_42693221del | CA2695230996 | A4GALT,CYB5R3 | c.-49+27576_-49+27596del (n.-49+27576_-49+27596del) c.731_751del (p.Trp244_Pro251delinsSer) | |
| 22 | g.42693221dup | CA2573055029 | A4GALT,CYB5R3 | c.-49+27577dup (n.-49+27577dup) c.732dup (p.Ile245AspfsTer?) | dbSNP |
| 22 | g.42693221C>A | CA411811481 | A4GALT,CYB5R3 | c.-49+27576G>T (n.-49+27576G>T) c.731G>T (p.Trp244Leu) | |
| 22 | g.42693221C>G | CA411811482 | A4GALT,CYB5R3 | c.-49+27576G>C (n.-49+27576G>C) c.731G>C (p.Trp244Ser) | gnomAD v4 |
| 22 | g.42693221C>T | CA411811483 | A4GALT,CYB5R3 | c.-49+27576G>A (n.-49+27576G>A) c.731G>A (p.Trp244Ter) | |
| 22 | g.42693222A>C | CA411811484 | A4GALT,CYB5R3 | c.-49+27575T>G (n.-49+27575T>G) c.730T>G (p.Trp244Gly) | |
| 22 | g.42693222A>G | CA411811485 | A4GALT,CYB5R3 | c.-49+27575T>C (n.-49+27575T>C) c.730T>C (p.Trp244Arg) | |
| 22 | g.42693222A>T | CA411811486 | A4GALT,CYB5R3 | c.-49+27575T>A (n.-49+27575T>A) c.730T>A (p.Trp244Arg) | |
| 22 | g.42693223G>A | CA515070832 | A4GALT,CYB5R3 | c.-49+27574C>T (n.-49+27574C>T) c.729C>T (p.Gly243=) | |
| 22 | g.42693223G>C | CA515070834 | A4GALT,CYB5R3 | c.-49+27574C>G (n.-49+27574C>G) c.729C>G (p.Gly243=) | |
| 22 | g.42693223G>T | CA515070836 | A4GALT,CYB5R3 | c.-49+27574C>A (n.-49+27574C>A) c.729C>A (p.Gly243=) | gnomAD v4 |
| 22 | g.42693224C>A | CA411811489 | A4GALT,CYB5R3 | c.-49+27573G>T (n.-49+27573G>T) c.728G>T (p.Gly243Val) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.42693224C= | CA2406870183 | A4GALT,CYB5R3 | c.-49+27573G= (n.-49+27573G=) c.728G= (p.Gly243=) | |
| 22 | g.42693224C>G | CA411811488 | A4GALT,CYB5R3 | c.-49+27573G>C (n.-49+27573G>C) c.728G>C (p.Gly243Ala) | |
| 22 | g.42693224C>T | CA411811487 | A4GALT,CYB5R3 | c.-49+27573G>A (n.-49+27573G>A) c.728G>A (p.Gly243Asp) | gnomAD v4 |
| 22 | g.42693225C>A | CA411811490 | A4GALT,CYB5R3 | c.-49+27572G>T (n.-49+27572G>T) c.727G>T (p.Gly243Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693225C= | CA2406870184 | A4GALT,CYB5R3 | c.-49+27572G= (n.-49+27572G=) c.727G= (p.Gly243=) | |
| 22 | g.42693225C>G | CA411811491 | A4GALT,CYB5R3 | c.-49+27572G>C (n.-49+27572G>C) c.727G>C (p.Gly243Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.42693225C>T | CA411811492 | A4GALT,CYB5R3 | c.-49+27572G>A (n.-49+27572G>A) c.727G>A (p.Gly243Ser) | gnomAD v4 |
| 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) |