| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.84002350A>T | CA373940695 | RMI1 | c.1364A>T (p.Asn455Ile) c.1363A>T (p.Ile455Phe) | dbSNP |
| 9 | g.84002350A>C | CA373940698 | RMI1 | c.1364A>C (p.Asn455Thr) c.1363A>C (p.Ile455Leu) | dbSNP |
| 9 | g.84002350A>G | CA5104589 | RMI1 | c.1364A>G (p.Asn455Ser) c.1363A>G (p.Ile455Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |