| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.2718166G>A | CA187971394 | KCNV2 | c.427G>A (p.Glu143Lys) n.928G>A | ClinVar dbSNP gnomAD v4 |
| 9 | g.2718166G>T | CA115916 | KCNV2 | c.427G>T (p.Glu143Ter) n.928G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.2718166G= | CA1828288307 | KCNV2 | c.427G= (p.Glu143=) n.928G= | dbSNP |
| 9 | g.2718166G>C | CA372796953 | KCNV2 | c.427G>C (p.Glu143Gln) n.928G>C | dbSNP gnomAD v4 |