Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.111911560C>T | CA282352 | CRYAB | c.165G>A (p.Leu55=) n.477G>A n.409G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.111911560C>G | CA228546428 | CRYAB | c.165G>C (p.Leu55=) n.477G>C n.409G>C | dbSNP |
11 | g.111911560C= | CA2000482132 | CRYAB | c.165G= (p.Leu55=) n.477G= n.409G= | dbSNP |