| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108580548C>G | CA10488571 | COL4A5 | c.796C>G (p.Arg266Gly) c.472C>G (p.Arg158Gly) c.811C>G (p.Arg271Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108580548C>T | CA258328 | COL4A5 | c.796C>T (p.Arg266Ter) c.472C>T (p.Arg158Ter) c.811C>T (p.Arg271Ter) | ClinVar dbSNP |
| X | g.108580548C= | CA2450683021 | COL4A5 | c.796C= (p.Arg266=) c.472C= (p.Arg158=) c.811C= (p.Arg271=) | dbSNP |