| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2110321C>G | CA7832222 | PKD1 | c.4846G>C (p.Glu1616Gln) n.310+2019G>C n.431-971G>C c.233+1495G>C n.790+2019G>C c.473-1963G>C n.773+2019G>C c.2226+2019G>C (n.2226+2019G>C) n.421+2019G>C c.1801G>C (p.Glu601Gln) c.4924G>C (p.Glu1642Gln) c.4900G>C (p.Glu1634Gln) c.4870G>C (p.Glu1624Gln) c.4852G>C (p.Glu1618Gln) c.4798G>C (p.Glu1600Gln) c.4717G>C (p.Glu1573Gln) c.4660G>C (p.Glu1554Gln) c.2746G>C (p.Glu916Gln) c.1924G>C (p.Glu642Gln) n.4939G>C c.4966G>C (p.Glu1656Gln) c.4894G>C (p.Glu1632Gln) c.4756G>C (p.Glu1586Gln) c.2842G>C (p.Glu948Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2110321C>A | CA16043507 | PKD1 | c.4846G>T (p.Glu1616Ter) n.310+2019G>T n.431-971G>T c.233+1495G>T n.790+2019G>T c.473-1963G>T n.773+2019G>T c.2226+2019G>T (n.2226+2019G>T) n.421+2019G>T c.1801G>T (p.Glu601Ter) c.4924G>T (p.Glu1642Ter) c.4900G>T (p.Glu1634Ter) c.4870G>T (p.Glu1624Ter) c.4852G>T (p.Glu1618Ter) c.4798G>T (p.Glu1600Ter) c.4717G>T (p.Glu1573Ter) c.4660G>T (p.Glu1554Ter) c.2746G>T (p.Glu916Ter) c.1924G>T (p.Glu642Ter) n.4939G>T c.4966G>T (p.Glu1656Ter) c.4894G>T (p.Glu1632Ter) c.4756G>T (p.Glu1586Ter) c.2842G>T (p.Glu948Ter) | ClinVar dbSNP |
| 16 | g.2110321C>T | CA7832221 | PKD1 | c.4846G>A (p.Glu1616Lys) n.310+2019G>A n.431-971G>A c.233+1495G>A n.790+2019G>A c.473-1963G>A n.773+2019G>A c.2226+2019G>A (n.2226+2019G>A) n.421+2019G>A c.1801G>A (p.Glu601Lys) c.4924G>A (p.Glu1642Lys) c.4900G>A (p.Glu1634Lys) c.4870G>A (p.Glu1624Lys) c.4852G>A (p.Glu1618Lys) c.4798G>A (p.Glu1600Lys) c.4717G>A (p.Glu1573Lys) c.4660G>A (p.Glu1554Lys) c.2746G>A (p.Glu916Lys) c.1924G>A (p.Glu642Lys) n.4939G>A c.4966G>A (p.Glu1656Lys) c.4894G>A (p.Glu1632Lys) c.4756G>A (p.Glu1586Lys) c.2842G>A (p.Glu948Lys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.2110321C= | CA2202046861 | PKD1 | c.4846G= (p.Glu1616=) n.310+2019G= n.431-971G= c.233+1495G= n.790+2019G= c.473-1963G= n.773+2019G= c.2226+2019G= (n.2226+2019G=) n.421+2019G= c.1801G= (p.Glu601=) c.4924G= (p.Glu1642=) c.4900G= (p.Glu1634=) c.4870G= (p.Glu1624=) c.4852G= (p.Glu1618=) c.4798G= (p.Glu1600=) c.4717G= (p.Glu1573=) c.4660G= (p.Glu1554=) c.2746G= (p.Glu916=) c.1924G= (p.Glu642=) n.4939G= c.4966G= (p.Glu1656=) c.4894G= (p.Glu1632=) c.4756G= (p.Glu1586=) c.2842G= (p.Glu948=) | dbSNP |