| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108614990_108614998dup | CA2450694146 | COL4A5 | c.2475_2483dup (p.Gly828_Ile829insProProGly) n.1931_1939dup c.2151_2159dup (p.Gly720_Ile721insProProGly) c.48_56dup (p.Gly19_Ile20insProProGly) c.2490_2498dup (p.Gly833_Ile834insProProGly) c.810_818dup (p.Gly273_Ile274insProProGly) | dbSNP |
| X | g.108614990_108614998del | CA258693 | COL4A5 | c.2475_2483del (p.Pro826_Gly828del) n.1931_1939del c.2151_2159del (p.Pro718_Gly720del) c.48_56del (p.Pro17_Gly19del) c.2490_2498del (p.Pro831_Gly833del) c.810_818del (p.Pro271_Gly273del) | ClinVar dbSNP |