| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.72251007G>T | CA364679589 | RIMS1 | c.2459G>T (p.Arg820Leu) n.2780G>T c.134G>T (p.Arg45Leu) c.881G>T (p.Arg294Leu) c.638G>T (p.Arg213Leu) c.1179G>T c.836G>T (p.Arg279Leu) n.1265G>T c.878G>T (p.Arg293Leu) c.812G>T (p.Arg271Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.72251007G>A | CA116672 | RIMS1 | c.2459G>A (p.Arg820His) n.2780G>A c.134G>A (p.Arg45His) c.881G>A (p.Arg294His) c.638G>A (p.Arg213His) c.1179G>A c.836G>A (p.Arg279His) n.1265G>A c.878G>A (p.Arg293His) c.812G>A (p.Arg271His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |