| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165386976G>A | CA349036834 | SCN2A | c.4782G>A (p.Trp1594Ter) c.*3101G>A (n.*3101G>A) c.*2769G>A (n.*2769G>A) c.*5305G>A (n.*5305G>A) c.*2724G>A (n.*2724G>A) c.4386G>A (p.Trp1462Ter) n.8213G>A c.4752G>A (p.Trp1584Ter) c.4029G>A (p.Trp1343Ter) c.2580G>A (p.Trp860Ter) | dbSNP COSMIC COSMIC |
| 2 | g.165386976G>C | CA16603919 | SCN2A | c.4782G>C (p.Trp1594Cys) c.*3101G>C (n.*3101G>C) c.*2769G>C (n.*2769G>C) c.*5305G>C (n.*5305G>C) c.*2724G>C (n.*2724G>C) c.4386G>C (p.Trp1462Cys) n.8213G>C c.4752G>C (p.Trp1584Cys) c.4029G>C (p.Trp1343Cys) c.2580G>C (p.Trp860Cys) | ClinVar dbSNP |
| 2 | g.165386976G= | CA1304563825 | SCN2A | c.4782G= (p.Trp1594=) c.*3101G= (n.*3101G=) c.*2769G= (n.*2769G=) c.*5305G= (n.*5305G=) c.*2724G= (n.*2724G=) c.4386G= (p.Trp1462=) n.8213G= c.4752G= (p.Trp1584=) c.4029G= (p.Trp1343=) c.2580G= (p.Trp860=) | dbSNP |