| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108157002A>C | CA236362 | COL4A6 | c.5071T>G (p.Ter1691Glu) c.5074T>G (p.Ter1692Glu) c.5122T>G (p.Ter1708Glu) c.4900T>G (p.Ter1634Glu) c.5035T>G (p.Ter1679Glu) c.4999T>G (p.Ter1667Glu) c.5125T>G (p.Ter1709Glu) c.5053T>G (p.Ter1685Glu) c.5041T>G (p.Ter1681Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108157002A= | CA2450541928 | COL4A6 | c.5071T= (p.Ter1691=) c.5074T= (p.Ter1692=) c.5122T= (p.Ter1708=) c.4900T= (p.Ter1634=) c.5035T= (p.Ter1679=) c.4999T= (p.Ter1667=) c.5125T= (p.Ter1709=) c.5053T= (p.Ter1685=) c.5041T= (p.Ter1681=) | dbSNP |