| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108622696C>T | CA258762 | COL4A5 | c.2788C>T (p.Gln930Ter) n.2244C>T c.21C>T c.2464C>T (p.Gln822Ter) c.361C>T (p.Gln121Ter) c.2803C>T (p.Gln935Ter) c.1123C>T (p.Gln375Ter) | dbSNP |
| X | g.108622696C= | CA2450696855 | COL4A5 | c.2788C= (p.Gln930=) n.2244C= c.21C= c.2464C= (p.Gln822=) c.361C= (p.Gln121=) c.2803C= (p.Gln935=) c.1123C= (p.Gln375=) | dbSNP |