| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227279882G>A | CA16040867 | COL4A3,MFF-DT | c.2215G>A (p.Gly739Arg) n.330-307C>T c.2110G>A (p.Gly704Arg) c.976G>A (p.Gly326Arg) n.2353G>A | ClinVar dbSNP gnomAD v2 |
| 2 | g.227279882G= | CA1332849418 | COL4A3,MFF-DT | c.2215G= (p.Gly739=) n.330-307C= c.2110G= (p.Gly704=) c.976G= (p.Gly326=) n.2353G= | dbSNP |