| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227294562G>A | CA352313 | COL4A3,MFF-DT | c.3410G>A (p.Gly1137Asp) n.243+10898C>T c.3305G>A (p.Gly1102Asp) c.2171G>A (p.Gly724Asp) n.3548G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.227294562G= | CA1332855980 | COL4A3,MFF-DT | c.3410G= (p.Gly1137=) n.243+10898C= c.3305G= (p.Gly1102=) c.2171G= (p.Gly724=) n.3548G= | dbSNP |