| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227303110G>C | CA2147395 | COL4A3,MFF-DT | n.373G>C c.3955G>C (p.Gly1319Arg) n.618G>C n.243+2350C>G c.3850G>C (p.Gly1284Arg) c.2716G>C (p.Gly906Arg) n.4093G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.227303110G>A | CA16043356 | COL4A3,MFF-DT | n.373G>A c.3955G>A (p.Gly1319Arg) n.618G>A n.243+2350C>T c.3850G>A (p.Gly1284Arg) c.2716G>A (p.Gly906Arg) n.4093G>A | ClinVar dbSNP gnomAD v4 |