| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108597442del | CA258515 | COL4A5 | c.1653del (p.Thr552LeufsTer5) n.1109del c.1329del (p.Thr444LeufsTer5) c.1668del (p.Thr557LeufsTer5) c.-13del (n.-13del) | dbSNP |
| X | g.108597442C= | CA2450688368 | COL4A5 | c.1653C= (p.Leu551=) n.1109C= c.1329C= (p.Leu443=) c.1668C= (p.Leu556=) c.-13C= (n.-13C=) | dbSNP dbSNP |