| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.27550364dup | CA915941190 | AHDC1 | c.1758dup (p.Arg587ThrfsTer?) n.2715dup n.2825dup | ClinVar dbSNP gnomAD v4 |
| 1 | g.27550363_27550364del | CA2573051553 | AHDC1 | c.1757_1758del (p.Lys586ThrfsTer?) n.2714_2715del n.2824_2825del | ClinVar dbSNP |
| 1 | g.27550361_27550364del | CA16617137 | AHDC1 | c.1755_1758del (p.Lys585AsnfsTer?) n.2712_2715del n.2822_2825del | ClinVar dbSNP |