| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227022135G>A | CA257919 | COL4A4 | c.4129C>T (p.Arg1377Ter) c.3574C>T (p.Arg1192Ter) c.4048C>T (p.Arg1350Ter) c.4021C>T (p.Arg1341Ter) c.2455C>T (p.Arg819Ter) n.4439C>T c.4012C>T (p.Arg1338Ter) n.4455C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.227022135G>C | CA350836803 | COL4A4 | c.4129C>G (p.Arg1377Gly) c.3574C>G (p.Arg1192Gly) c.4048C>G (p.Arg1350Gly) c.4021C>G (p.Arg1341Gly) c.2455C>G (p.Arg819Gly) n.4439C>G c.4012C>G (p.Arg1338Gly) n.4455C>G | dbSNP |
| 2 | g.227022135G= | CA1332730283 | COL4A4 | c.4129C= (p.Arg1377=) c.3574C= (p.Arg1192=) c.4048C= (p.Arg1350=) c.4021C= (p.Arg1341=) c.2455C= (p.Arg819=) n.4439C= c.4012C= (p.Arg1338=) n.4455C= | dbSNP |