| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.186620593G>C | CA126165 | AHSG | c.767G>C (p.Ser256Thr) c.770G>C (p.Ser257Thr) c.764G>C (p.Ser255Thr) c.683G>C (p.Ser228Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.186620593G>A | CA355715494 | AHSG | c.767G>A (p.Ser256Asn) c.770G>A (p.Ser257Asn) c.764G>A (p.Ser255Asn) c.683G>A (p.Ser228Asn) | dbSNP |
| 3 | g.186620593G= | CA1427019561 | AHSG | c.767G= (p.Ser256=) c.770G= (p.Ser257=) c.764G= (p.Ser255=) c.683G= (p.Ser228=) | dbSNP |
| 3 | g.186620593G>T | CA355715495 | AHSG | c.767G>T (p.Ser256Ile) c.770G>T (p.Ser257Ile) c.764G>T (p.Ser255Ile) c.683G>T (p.Ser228Ile) | dbSNP gnomAD v4 |