| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165373339G>T | CA349030061 | SCN2A | c.3964G>T (p.Gly1322Ter) c.*2283G>T (n.*2283G>T) c.*1951G>T (n.*1951G>T) c.*4487G>T (n.*4487G>T) c.*1906G>T (n.*1906G>T) c.3568G>T (p.Gly1190Ter) n.7032G>T c.3934G>T (p.Gly1312Ter) c.3211G>T (p.Gly1071Ter) c.1762G>T (p.Gly588Ter) | dbSNP |
| 2 | g.165373339G>A | CA16603820 | SCN2A | c.3964G>A (p.Gly1322Arg) c.*2283G>A (n.*2283G>A) c.*1951G>A (n.*1951G>A) c.*4487G>A (n.*4487G>A) c.*1906G>A (n.*1906G>A) c.3568G>A (p.Gly1190Arg) n.7032G>A c.3934G>A (p.Gly1312Arg) c.3211G>A (p.Gly1071Arg) c.1762G>A (p.Gly588Arg) | ClinVar dbSNP |
| 2 | g.165373339G= | CA1304558582 | SCN2A | c.3964G= (p.Gly1322=) c.*2283G= (n.*2283G=) c.*1951G= (n.*1951G=) c.*4487G= (n.*4487G=) c.*1906G= (n.*1906G=) c.3568G= (p.Gly1190=) n.7032G= c.3934G= (p.Gly1312=) c.3211G= (p.Gly1071=) c.1762G= (p.Gly588=) | dbSNP |