| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.57964482C>T | CA8083959 | CNGB1 | c.217+5G>A (n.217+5G>A) n.275+5G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57964482C>G | CA270081 | CNGB1 | c.217+5G>C (n.217+5G>C) n.275+5G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.57964482C= | CA2224857416 | CNGB1 | c.217+5G= (n.217+5G=) n.275+5G= | dbSNP |