| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108686093G>C | CA413853697 | COL4A5 | c.4279G>C (p.Gly1427Arg) c.4261G>C (p.Gly1421Arg) n.773G>C n.682G>C c.75G>C c.4270G>C (p.Gly1424Arg) c.3955G>C (p.Gly1319Arg) c.1852G>C (p.Gly618Arg) c.4294G>C (p.Gly1432Arg) c.4285G>C (p.Gly1429Arg) c.4276G>C (p.Gly1426Arg) c.2614G>C (p.Gly872Arg) | dbSNP |
| X | g.108686093G>T | CA259010 | COL4A5 | c.4279G>T (p.Gly1427Trp) c.4261G>T (p.Gly1421Trp) n.773G>T n.682G>T c.75G>T c.4270G>T (p.Gly1424Trp) c.3955G>T (p.Gly1319Trp) c.1852G>T (p.Gly618Trp) c.4294G>T (p.Gly1432Trp) c.4285G>T (p.Gly1429Trp) c.4276G>T (p.Gly1426Trp) c.2614G>T (p.Gly872Trp) | dbSNP |