| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23623003G>T | CA395143995 | PALB2 | c.2968C>A (p.Gln990Lys) c.*443C>A (n.*443C>A) c.2962C>A (p.Gln988Lys) c.2806C>A (p.Gln936Lys) c.2077C>A (p.Gln693Lys) n.4309C>A c.1915C>A (p.Gln639Lys) n.3482C>A n.2254C>A n.1657C>A c.496C>A (p.Gln166Lys) n.3758C>A | dbSNP |
| 16 | g.23623003G>A | CA164468 | PALB2 | c.2968C>T (p.Gln990Ter) c.*443C>T (n.*443C>T) c.2962C>T (p.Gln988Ter) c.2806C>T (p.Gln936Ter) c.2077C>T (p.Gln693Ter) n.4309C>T c.1915C>T (p.Gln639Ter) n.3482C>T n.2254C>T n.1657C>T c.496C>T (p.Gln166Ter) n.3758C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.23623003G>C | CA395143997 | PALB2 | c.2968C>G (p.Gln990Glu) c.*443C>G (n.*443C>G) c.2962C>G (p.Gln988Glu) c.2806C>G (p.Gln936Glu) c.2077C>G (p.Gln693Glu) n.4309C>G c.1915C>G (p.Gln639Glu) n.3482C>G n.2254C>G n.1657C>G c.496C>G (p.Gln166Glu) n.3758C>G | dbSNP |