| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108626315C>G | CA258835 | COL4A5 | c.3212C>G (p.Ser1071Ter) n.2668C>G c.445C>G c.2888C>G (p.Ser963Ter) c.785C>G (p.Ser262Ter) c.3227C>G (p.Ser1076Ter) c.1547C>G (p.Ser516Ter) | dbSNP |
| X | g.108626315C= | CA2450697580 | COL4A5 | c.3212C= (p.Ser1071=) n.2668C= c.445C= c.2888C= (p.Ser963=) c.785C= (p.Ser262=) c.3227C= (p.Ser1076=) c.1547C= (p.Ser516=) | dbSNP |