Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.106539495A>G | CA365159360 | CRYBG1 | c.4811A>G (p.Glu1604Gly) c.3587A>G (p.Glu1196Gly) | dbSNP |
6 | g.106539495A>T | CA365159364 | CRYBG1 | c.4811A>T (p.Glu1604Val) c.3587A>T (p.Glu1196Val) | dbSNP gnomAD v4 |
6 | g.106539495A>C | CA3943705 | CRYBG1 | c.4811A>C (p.Glu1604Ala) c.3587A>C (p.Glu1196Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |