| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.132084546G>A | CA335857921 | FRMD7 | c.685C>T (p.Arg229Cys) c.325C>T (p.Arg109Cys) c.640C>T (p.Arg214Cys) c.637C>T (p.Arg213Cys) c.430C>T (p.Arg144Cys) c.211C>T (p.Arg71Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.132084546G>C | CA255549 | FRMD7 | c.685C>G (p.Arg229Gly) c.325C>G (p.Arg109Gly) c.640C>G (p.Arg214Gly) c.637C>G (p.Arg213Gly) c.430C>G (p.Arg144Gly) c.211C>G (p.Arg71Gly) | ClinVar dbSNP COSMIC |