| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227280587C>T | CA16609389 | COL4A3,MFF-DT | c.2371C>T (p.Arg791Ter) n.330-1012G>A c.2266C>T (p.Arg756Ter) c.1132C>T (p.Arg378Ter) n.2509C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.227280587C= | CA1332849734 | COL4A3,MFF-DT | c.2371C= (p.Arg791=) n.330-1012G= c.2266C= (p.Arg756=) c.1132C= (p.Arg378=) n.2509C= | dbSNP |