| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101749181G>A | CA343081 | CHPT1,GNPTAB | c.3613C>T (p.Arg1205Ter) c.511C>T (n.511C>T) c.3532C>T (p.Arg1178Ter) c.3397C>T (p.Arg1133Ter) c.2386C>T (p.Arg796Ter) n.3646G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101749181G>T | CA481317009 | CHPT1,GNPTAB | c.3613C>A (p.Arg1205=) c.511C>A (n.511C>A) c.3532C>A (p.Arg1178=) c.3397C>A (p.Arg1133=) c.2386C>A (p.Arg796=) n.3646G>T | dbSNP gnomAD v2 gnomAD v4 |