| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2103746C>T | CA16043505 | PKD1 | c.8311G>A (p.Glu2771Lys) n.1556G>A n.48G>A n.2036G>A n.2447G>A c.2998G>A (p.Glu1000Lys) n.2547G>A n.833G>A n.44G>A c.372G>A c.5266G>A (p.Glu1756Lys) c.8389G>A (p.Glu2797Lys) c.8365G>A (p.Glu2789Lys) c.8335G>A (p.Glu2779Lys) c.8317G>A (p.Glu2773Lys) c.8263G>A (p.Glu2755Lys) c.8182G>A (p.Glu2728Lys) c.8125G>A (p.Glu2709Lys) c.6211G>A (p.Glu2071Lys) c.5389G>A (p.Glu1797Lys) n.8404G>A c.8431G>A (p.Glu2811Lys) c.8359G>A (p.Glu2787Lys) c.8221G>A (p.Glu2741Lys) c.6307G>A (p.Glu2103Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2103746C= | CA2202022859 | PKD1 | c.8311G= (p.Glu2771=) n.1556G= n.48G= n.2036G= n.2447G= c.2998G= (p.Glu1000=) n.2547G= n.833G= n.44G= c.372G= c.5266G= (p.Glu1756=) c.8389G= (p.Glu2797=) c.8365G= (p.Glu2789=) c.8335G= (p.Glu2779=) c.8317G= (p.Glu2773=) c.8263G= (p.Glu2755=) c.8182G= (p.Glu2728=) c.8125G= (p.Glu2709=) c.6211G= (p.Glu2071=) c.5389G= (p.Glu1797=) n.8404G= c.8431G= (p.Glu2811=) c.8359G= (p.Glu2787=) c.8221G= (p.Glu2741=) c.6307G= (p.Glu2103=) | dbSNP |