| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.65006127C>T | CA156423 | MTFMT | c.878G>A (p.Ser293Asn) c.753G>A (n.753G>A) c.623G>A (p.Ser208Asn) c.1031G>A (p.Ser344Asn) | ClinVar dbSNP gnomAD v4 |
| 15 | g.65006127C>A | CA392846979 | MTFMT | c.878G>T (p.Ser293Ile) c.753G>T (n.753G>T) c.623G>T (p.Ser208Ile) c.1031G>T (p.Ser344Ile) | dbSNP |
| 15 | g.65006127C= | CA2183412252 | MTFMT | c.878G= (p.Ser293=) c.753G= (n.753G=) c.623G= (p.Ser208=) c.1031G= (p.Ser344=) | dbSNP |