Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.109466593C>T | CA183338999 | PKHD1L1 | c.8429C>T (p.Thr2810Ile) c.8315C>T (p.Thr2772Ile) c.8267C>T (p.Thr2756Ile) c.8126C>T (p.Thr2709Ile) c.4805C>T (p.Thr1602Ile) n.8484C>T c.5447C>T (p.Thr1816Ile) | dbSNP |
8 | g.109466593C>A | CA4846041 | PKHD1L1 | c.8429C>A (p.Thr2810Asn) c.8315C>A (p.Thr2772Asn) c.8267C>A (p.Thr2756Asn) c.8126C>A (p.Thr2709Asn) c.4805C>A (p.Thr1602Asn) n.8484C>A c.5447C>A (p.Thr1816Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |