| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.45676237T>C | CA7544660 | SQOR | c.791T>C (p.Ile264Thr) n.313-992A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.45676237T= | CA2174195535 | SQOR | c.791T= (p.Ile264=) n.313-992A= | dbSNP |
| 15 | g.45676237T>A | CA392287612 | SQOR | c.791T>A (p.Ile264Asn) n.313-992A>T | dbSNP gnomAD v4 |