| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42796244C>T | CA254228 | COA3,WNK4 | c.3553C>T (p.Arg1185Cys) c.*143-91G>A (n.*143-91G>A) c.*2054C>T (n.*2054C>T) c.3550C>T (p.Arg1184Cys) c.3415C>T (p.Arg1139Cys) c.2545C>T (p.Arg849Cys) c.3412C>T (p.Arg1138Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42796244C>G | CA399671748 | COA3,WNK4 | c.3553C>G (p.Arg1185Gly) c.*143-91G>C (n.*143-91G>C) c.*2054C>G (n.*2054C>G) c.3550C>G (p.Arg1184Gly) c.3415C>G (p.Arg1139Gly) c.2545C>G (p.Arg849Gly) c.3412C>G (p.Arg1138Gly) | dbSNP |