| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108591597dup | CA258468 | COL4A5 | c.1376dup (p.Gly460ArgfsTer5) n.832dup c.1052dup (p.Gly352ArgfsTer5) c.1391dup (p.Gly465ArgfsTer5) c.-334dup (n.-334dup) | ClinVar dbSNP COSMIC COSMIC |
| X | g.108591597del | CA258467 | COL4A5 | c.1376del (p.Pro459GlnfsTer15) n.832del c.1052del (p.Pro351GlnfsTer15) c.1391del (p.Pro464GlnfsTer15) c.-334del (n.-334del) | dbSNP gnomAD v4 |