| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.20179316C>G | CA4656494 | SLC18A1 | c.293G>C (p.Ser98Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.20179316C= | CA1769213010 | SLC18A1 | c.293G= (p.Ser98=) | dbSNP |
| 8 | g.20179316C>A | CA370470011 | SLC18A1 | c.293G>T (p.Ser98Ile) | dbSNP gnomAD v4 |
| 8 | g.20179316C>T | CA370470012 | SLC18A1 | c.293G>A (p.Ser98Asn) | dbSNP gnomAD v4 |