| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108666579C>T | CA258888 | COL4A5 | c.3538C>T (p.Gln1180Ter) c.3214C>T (p.Gln1072Ter) c.1111C>T (p.Gln371Ter) c.3553C>T (p.Gln1185Ter) c.1873C>T (p.Gln625Ter) | ClinVar dbSNP |
| X | g.108666579C= | CA2450712347 | COL4A5 | c.3538C= (p.Gln1180=) c.3214C= (p.Gln1072=) c.1111C= (p.Gln371=) c.3553C= (p.Gln1185=) c.1873C= (p.Gln625=) | dbSNP |