| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.81208497G>A | CA8190154 | PKD1L2 | c.754C>T (p.Arg252Trp) n.754C>T n.778C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.81208497G>C | CA396883913 | PKD1L2 | c.754C>G (p.Arg252Gly) n.754C>G n.778C>G | dbSNP gnomAD v4 |
| 16 | g.81208497G>T | CA496458793 | PKD1L2 | c.754C>A (p.Arg252=) n.754C>A n.778C>A | dbSNP gnomAD v4 |