| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.77407564_77407565del | CA588488428 | VPS13A | c.9431_9432del (p.Glu3144ValfsTer6) c.9314_9315del (p.Glu3105ValfsTer6) c.239_240del (p.Glu80ValfsTer6) c.52_53del n.9880_9881del n.9970_9971del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.77407562_77407565del | CA2580616218 | VPS13A | c.9429_9432del (p.Arg3143SerfsTer5) c.9312_9315del (p.Arg3104SerfsTer5) c.237_240del (p.Arg79SerfsTer5) c.50_53del n.9878_9881del n.9968_9971del | dbSNP gnomAD v4 |