| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16024780A>T | CA338609532 | CLCNKA | c.247A>T (p.Arg83Trp) c.229+852A>T (n.229+852A>T) n.889-79A>T n.405A>T | dbSNP gnomAD v4 |
| 1 | g.16024780A>C | CA416226971 | CLCNKA | c.247A>C (p.Arg83=) c.229+852A>C (n.229+852A>C) n.889-79A>C n.405A>C | dbSNP |
| 1 | g.16024780A>G | CA622162 | CLCNKA | c.247A>G (p.Arg83Gly) c.229+852A>G (n.229+852A>G) n.889-79A>G n.405A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |