| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165386920G>T | CA349036642 | SCN2A | c.4726G>T (p.Gly1576Ter) c.*3045G>T (n.*3045G>T) c.*2713G>T (n.*2713G>T) c.*5249G>T (n.*5249G>T) c.*2668G>T (n.*2668G>T) c.4330G>T (p.Gly1444Ter) n.8157G>T c.4696G>T (p.Gly1566Ter) c.3973G>T (p.Gly1325Ter) c.2524G>T (p.Gly842Ter) | dbSNP |
| 2 | g.165386920G>A | CA354201 | SCN2A | c.4726G>A (p.Gly1576Arg) c.*3045G>A (n.*3045G>A) c.*2713G>A (n.*2713G>A) c.*5249G>A (n.*5249G>A) c.*2668G>A (n.*2668G>A) c.4330G>A (p.Gly1444Arg) n.8157G>A c.4696G>A (p.Gly1566Arg) c.3973G>A (p.Gly1325Arg) c.2524G>A (p.Gly842Arg) | ClinVar dbSNP |
| 2 | g.165386920G= | CA1304563803 | SCN2A | c.4726G= (p.Gly1576=) c.*3045G= (n.*3045G=) c.*2713G= (n.*2713G=) c.*5249G= (n.*5249G=) c.*2668G= (n.*2668G=) c.4330G= (p.Gly1444=) n.8157G= c.4696G= (p.Gly1566=) c.3973G= (p.Gly1325=) c.2524G= (p.Gly842=) | dbSNP |