| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227289222G>T | CA127230 | COL4A3,MFF-DT | c.2954G>T (p.Gly985Val) c.65G>T (p.Gly22Val) n.115G>T n.244-7433C>A c.2849G>T (p.Gly950Val) c.1715G>T (p.Gly572Val) n.3092G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.227289222G>A | CA66605487 | COL4A3,MFF-DT | c.2954G>A (p.Gly985Glu) c.65G>A (p.Gly22Glu) n.115G>A n.244-7433C>T c.2849G>A (p.Gly950Glu) c.1715G>A (p.Gly572Glu) n.3092G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227289222G= | CA1332853477 | COL4A3,MFF-DT | c.2954G= (p.Gly985=) c.65G= (p.Gly22=) n.115G= n.244-7433C= c.2849G= (p.Gly950=) c.1715G= (p.Gly572=) n.3092G= | dbSNP |