| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227055971C>T | CA127186 | COL4A4 | c.2690G>A (p.Gly897Glu) c.2135G>A (p.Gly712Glu) c.2582G>A (p.Gly861Glu) c.1016G>A (p.Gly339Glu) n.3000G>A n.3016G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.227055971C= | CA1332746328 | COL4A4 | c.2690G= (p.Gly897=) c.2135G= (p.Gly712=) c.2582G= (p.Gly861=) c.1016G= (p.Gly339=) n.3000G= n.3016G= | dbSNP |