| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108686096C>T | CA033364 | COL4A5 | c.4282C>T (p.Arg1428Cys) c.4264C>T (p.Arg1422Cys) n.776C>T n.685C>T c.78C>T c.4273C>T (p.Arg1425Cys) c.3958C>T (p.Arg1320Cys) c.1855C>T (p.Arg619Cys) c.4297C>T (p.Arg1433Cys) c.4288C>T (p.Arg1430Cys) c.4279C>T (p.Arg1427Cys) c.2617C>T (p.Arg873Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108686096C>A | CA413853712 | COL4A5 | c.4282C>A (p.Arg1428Ser) c.4264C>A (p.Arg1422Ser) n.776C>A n.685C>A c.78C>A c.4273C>A (p.Arg1425Ser) c.3958C>A (p.Arg1320Ser) c.1855C>A (p.Arg619Ser) c.4297C>A (p.Arg1433Ser) c.4288C>A (p.Arg1430Ser) c.4279C>A (p.Arg1427Ser) c.2617C>A (p.Arg873Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |