| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.214986566T>C | CA252475 | ABCA12 | c.4139A>G (p.Asn1380Ser) c.3185A>G (p.Asn1062Ser) n.4439A>G c.4148A>G (p.Asn1383Ser) n.4637A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.214986566T>A | CA350463832 | ABCA12 | c.4139A>T (p.Asn1380Ile) c.3185A>T (p.Asn1062Ile) n.4439A>T c.4148A>T (p.Asn1383Ile) n.4637A>T | dbSNP gnomAD v4 |
| 2 | g.214986566T= | CA1327163655 | ABCA12 | c.4139A= (p.Asn1380=) c.3185A= (p.Asn1062=) n.4439A= c.4148A= (p.Asn1383=) n.4637A= | dbSNP |
| 2 | g.214986566T>G | CA350463833 | ABCA12 | c.4139A>C (p.Asn1380Thr) c.3185A>C (p.Asn1062Thr) n.4439A>C c.4148A>C (p.Asn1383Thr) n.4637A>C | dbSNP gnomAD v4 |