| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.21258785T>G | CA126994 | CRYM | c.941A>C (p.Lys314Thr) c.264+4A>C c.*520+2469A>C (n.*520+2469A>C) n.735+3992T>G | ClinVar dbSNP gnomAD v4 |
| 16 | g.21258785T>C | CA279383877 | CRYM | c.941A>G (p.Lys314Arg) c.264+4A>G c.*520+2469A>G (n.*520+2469A>G) n.735+3992T>C | dbSNP gnomAD v3 gnomAD v4 |