| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227277511G>A | CA2146849 | COL4A3,MFF-DT | c.2083G>A (p.Gly695Arg) n.422+1972C>T c.2020+1034G>A (n.2020+1034G>A) c.844G>A (p.Gly282Arg) n.2221G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227277511G= | CA1332848444 | COL4A3,MFF-DT | c.2083G= (p.Gly695=) n.422+1972C= c.2020+1034G= (n.2020+1034G=) c.844G= (p.Gly282=) n.2221G= | dbSNP |