| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.85901099G>C | CA16608997 | CHM | c.1334C>G (p.Ser445Ter) n.127-38005C>G c.1271C>G (p.Ser424Ter) c.890C>G (p.Ser297Ter) | ClinVar dbSNP |
| X | g.85901099G>A | CA413789582 | CHM | c.1334C>T (p.Ser445Leu) n.127-38005C>T c.1271C>T (p.Ser424Leu) c.890C>T (p.Ser297Leu) | ClinVar dbSNP |