| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108586699C>T | CA258404 | COL4A5 | c.1117C>T (p.Arg373Ter) n.573C>T c.793C>T (p.Arg265Ter) c.1132C>T (p.Arg378Ter) c.-593C>T (n.-593C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.108586699C>A | CA517992084 | COL4A5 | c.1117C>A (p.Arg373=) n.573C>A c.793C>A (p.Arg265=) c.1132C>A (p.Arg378=) c.-593C>A (n.-593C>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108586699C= | CA2450685019 | COL4A5 | c.1117C= (p.Arg373=) n.573C= c.793C= (p.Arg265=) c.1132C= (p.Arg378=) c.-593C= (n.-593C=) | dbSNP |