| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227295044G>A | CA257973 | COL4A3,MFF-DT | c.3499G>A (p.Gly1167Arg) n.243+10416C>T c.3394G>A (p.Gly1132Arg) c.2260G>A (p.Gly754Arg) n.3637G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227295044G= | CA1332856178 | COL4A3,MFF-DT | c.3499G= (p.Gly1167=) n.243+10416C= c.3394G= (p.Gly1132=) c.2260G= (p.Gly754=) n.3637G= | dbSNP |