| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65003238G>A | CA130603 | MTFMT | c.994C>T (p.Arg332Ter) c.869C>T (n.869C>T) c.739C>T (p.Arg247Ter) c.1147C>T (p.Arg383Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.65003238G>T | CA7613164 | MTFMT | c.994C>A (p.Arg332=) c.869C>A (n.869C>A) c.739C>A (p.Arg247=) c.1147C>A (p.Arg383=) | dbSNP ExAC gnomAD v2 gnomAD v4 |