| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227051141C>A | CA350839268 | COL4A4 | c.2986G>T (p.Gly996Trp) c.2431G>T (p.Gly811Trp) c.2878G>T (p.Gly960Trp) c.1312G>T (p.Gly438Trp) n.3296G>T n.3312G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.227051141C>T | CA352336 | COL4A4 | c.2986G>A (p.Gly996Arg) c.2431G>A (p.Gly811Arg) c.2878G>A (p.Gly960Arg) c.1312G>A (p.Gly438Arg) n.3296G>A n.3312G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227051141C= | CA1332744139 | COL4A4 | c.2986G= (p.Gly996=) c.2431G= (p.Gly811=) c.2878G= (p.Gly960=) c.1312G= (p.Gly438=) n.3296G= n.3312G= | dbSNP |