| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.28130164A>T | CA7440216 | HERC2 | c.12801T>A (p.Asp4267Glu) c.4281+1936T>A (n.4281+1936T>A) c.12687T>A (p.Asp4229Glu) c.12786T>A (p.Asp4262Glu) c.12543T>A (p.Asp4181Glu) c.12318T>A (p.Asp4106Glu) c.10317T>A (p.Asp3439Glu) c.9546T>A (p.Asp3182Glu) c.6918T>A (p.Asp2306Glu) c.5967T>A (p.Asp1989Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.28130164A>G | CA488961161 | HERC2 | c.12801T>C (p.Asp4267=) c.4281+1936T>C (n.4281+1936T>C) c.12687T>C (p.Asp4229=) c.12786T>C (p.Asp4262=) c.12543T>C (p.Asp4181=) c.12318T>C (p.Asp4106=) c.10317T>C (p.Asp3439=) c.9546T>C (p.Asp3182=) c.6918T>C (p.Asp2306=) c.5967T>C (p.Asp1989=) | dbSNP |