| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108571814del | CA258251 | COL4A5 | c.442del (p.Pro149LeufsTer6) c.118del (p.Pro41LeufsTer6) c.457del (p.Pro154LeufsTer6) | ClinVar dbSNP |
| X | g.108571818dup | CA258250 | COL4A5 | c.446dup (p.Gly150TrpfsTer8) c.122dup (p.Gly42TrpfsTer8) c.461dup (p.Gly155TrpfsTer8) | ClinVar dbSNP dbSNP dbSNP |