| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108586703G>C | CA258407 | COL4A5 | c.1121G>C (p.Gly374Ala) n.577G>C c.797G>C (p.Gly266Ala) c.1136G>C (p.Gly379Ala) c.-589G>C (n.-589G>C) | ClinVar dbSNP |
| X | g.108586703G= | CA2450685022 | COL4A5 | c.1121G= (p.Gly374=) n.577G= c.797G= (p.Gly266=) c.1136G= (p.Gly379=) c.-589G= (n.-589G=) | dbSNP |