| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227290062G>A | CA127228 | COL4A3,MFF-DT | c.3044G>A (p.Gly1015Glu) c.155G>A (p.Gly52Glu) n.205G>A n.244-8273C>T c.2939G>A (p.Gly980Glu) c.1805G>A (p.Gly602Glu) n.3182G>A | ClinVar dbSNP |
| 2 | g.227290062G= | CA1332854189 | COL4A3,MFF-DT | c.3044G= (p.Gly1015=) c.155G= (p.Gly52=) n.205G= n.244-8273C= c.2939G= (p.Gly980=) c.1805G= (p.Gly602=) n.3182G= | dbSNP |