| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227008279T>C | CA2144122 | COL4A4 | c.190-40A>G (n.190-40A>G) c.4548A>G (p.Val1516=) c.3993A>G (p.Val1331=) c.4359A>G (p.Val1453=) c.4216+13769A>G (n.4216+13769A>G) c.4467A>G (p.Val1489=) c.4440A>G (p.Val1480=) c.4334-40A>G (n.4334-40A>G) c.4217-40A>G (n.4217-40A>G) c.2874A>G (p.Val958=) n.4858A>G n.4526+13769A>G c.4431A>G (p.Val1477=) n.4874A>G n.4660-40A>G n.4542+13769A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227008279T>G | CA431672012 | COL4A4 | c.190-40A>C (n.190-40A>C) c.4548A>C (p.Val1516=) c.3993A>C (p.Val1331=) c.4359A>C (p.Val1453=) c.4216+13769A>C (n.4216+13769A>C) c.4467A>C (p.Val1489=) c.4440A>C (p.Val1480=) c.4334-40A>C (n.4334-40A>C) c.4217-40A>C (n.4217-40A>C) c.2874A>C (p.Val958=) n.4858A>C n.4526+13769A>C c.4431A>C (p.Val1477=) n.4874A>C n.4660-40A>C n.4542+13769A>C | dbSNP gnomAD v4 |