| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227008112G>A | CA257925 | COL4A4 | c.317C>T (p.Pro106Leu) c.4715C>T (p.Pro1572Leu) c.4160C>T (p.Pro1387Leu) c.4526C>T (p.Pro1509Leu) c.4216+13936C>T (n.4216+13936C>T) c.4634C>T (p.Pro1545Leu) c.4607C>T (p.Pro1536Leu) c.*48C>T (n.*48C>T) c.3041C>T (p.Pro1014Leu) n.5025C>T n.4526+13936C>T c.4598C>T (p.Pro1533Leu) n.5041C>T n.4787C>T n.4542+13936C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008112G= | CA1332723909 | COL4A4 | c.317C= (p.Pro106=) c.4715C= (p.Pro1572=) c.4160C= (p.Pro1387=) c.4526C= (p.Pro1509=) c.4216+13936C= (n.4216+13936C=) c.4634C= (p.Pro1545=) c.4607C= (p.Pro1536=) c.*48C= (n.*48C=) c.3041C= (p.Pro1014=) n.5025C= n.4526+13936C= c.4598C= (p.Pro1533=) n.5041C= n.4787C= n.4542+13936C= | dbSNP |