| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.2718181G>A | CA4965453 | KCNV2 | c.442G>A (p.Glu148Lys) n.943G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.2718181G>T | CA130576 | KCNV2 | c.442G>T (p.Glu148Ter) n.943G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.2718181G= | CA1828288345 | KCNV2 | c.442G= (p.Glu148=) n.943G= | dbSNP |