| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228952C>T | CA114924 | SLC4A11 | c.2078G>A (p.Gly693Glu) c.2009G>A (p.Gly670Glu) c.1949G>A (p.Gly650Glu) c.1964G>A (p.Gly655Glu) c.2126G>A (p.Gly709Glu) c.2207G>A (p.Gly736Glu) c.*226G>A (n.*226G>A) n.671G>A c.2447G>A (p.Gly816Glu) c.2021G>A (p.Gly674Glu) c.2045G>A (p.Gly682Glu) n.2176G>A c.2441G>A (p.Gly814Glu) n.2621G>A n.2601G>A c.2093G>A (p.Gly698Glu) n.2586G>A | ClinVar dbSNP |
| 20 | g.3228952C= | CA2346475252 | SLC4A11 | c.2078G= (p.Gly693=) c.2009G= (p.Gly670=) c.1949G= (p.Gly650=) c.1964G= (p.Gly655=) c.2126G= (p.Gly709=) c.2207G= (p.Gly736=) c.*226G= (n.*226G=) n.671G= c.2447G= (p.Gly816=) c.2021G= (p.Gly674=) c.2045G= (p.Gly682=) n.2176G= c.2441G= (p.Gly814=) n.2621G= n.2601G= c.2093G= (p.Gly698=) n.2586G= | dbSNP |