| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85901091G>A | CA16043334 | CHM | c.1342C>T (p.Gln448Ter) n.127-37997C>T c.1279C>T (p.Gln427Ter) c.898C>T (p.Gln300Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.85901091G>C | CA413789556 | CHM | c.1342C>G (p.Gln448Glu) n.127-37997C>G c.1279C>G (p.Gln427Glu) c.898C>G (p.Gln300Glu) | dbSNP gnomAD v4 |
| X | g.85901091G= | CA2442458857 | CHM | c.1342C= (p.Gln448=) n.127-37997C= c.1279C= (p.Gln427=) c.898C= (p.Gln300=) | dbSNP |