| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.227032253C>T | CA257914 | COL4A4 | c.3601G>A (p.Gly1201Ser) c.3046G>A (p.Gly1016Ser) c.3520G>A (p.Gly1174Ser) c.3493G>A (p.Gly1165Ser) c.1927G>A (p.Gly643Ser) n.3911G>A c.3484G>A (p.Gly1162Ser) n.3927G>A | ClinVar dbSNP |
| 2 | g.227032253C>G | CA350837924 | COL4A4 | c.3601G>C (p.Gly1201Arg) c.3046G>C (p.Gly1016Arg) c.3520G>C (p.Gly1174Arg) c.3493G>C (p.Gly1165Arg) c.1927G>C (p.Gly643Arg) n.3911G>C c.3484G>C (p.Gly1162Arg) n.3927G>C | dbSNP |
| 2 | g.227032253C= | CA1332734857 | COL4A4 | c.3601G= (p.Gly1201=) c.3046G= (p.Gly1016=) c.3520G= (p.Gly1174=) c.3493G= (p.Gly1165=) c.1927G= (p.Gly643=) n.3911G= c.3484G= (p.Gly1162=) n.3927G= | dbSNP |