| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2117579G>T | CA16609458 | PKD1 | c.1295C>A (p.Ala432Glu) c.382C>A c.263C>A (p.Ala88Glu) n.428C>A c.1349C>A (p.Ala450Glu) c.1277C>A (p.Ala426Glu) c.1223C>A (p.Ala408Glu) c.1142C>A (p.Ala381Glu) c.1085C>A (p.Ala362Glu) n.1364C>A | ClinVar dbSNP |
| 16 | g.2117579G>A | CA394392620 | PKD1 | c.1295C>T (p.Ala432Val) c.382C>T c.263C>T (p.Ala88Val) n.428C>T c.1349C>T (p.Ala450Val) c.1277C>T (p.Ala426Val) c.1223C>T (p.Ala408Val) c.1142C>T (p.Ala381Val) c.1085C>T (p.Ala362Val) n.1364C>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.2117579G= | CA2202051780 | PKD1 | c.1295C= (p.Ala432=) c.382C= c.263C= (p.Ala88=) n.428C= c.1349C= (p.Ala450=) c.1277C= (p.Ala426=) c.1223C= (p.Ala408=) c.1142C= (p.Ala381=) c.1085C= (p.Ala362=) n.1364C= | dbSNP |