| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.166281786T>C | CA118167 | SCN1A-AS1,SCN9A | c.1997A>G (p.Lys666Arg) c.1964A>G (p.Lys655Arg) c.999A>G c.1592A>G (p.Lys531Arg) c.1559A>G (p.Lys520Arg) n.1029+4539T>C c.1610A>G (p.Lys537Arg) c.1253A>G (p.Lys418Arg) n.2311A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.166281786T= | CA1304966789 | SCN1A-AS1,SCN9A | c.1997A= (p.Lys666=) c.1964A= (p.Lys655=) c.999A= c.1592A= (p.Lys531=) c.1559A= (p.Lys520=) n.1029+4539T= c.1610A= (p.Lys537=) c.1253A= (p.Lys418=) n.2311A= | dbSNP |
| 2 | g.166281786T>A | CA349081320 | SCN1A-AS1,SCN9A | c.1997A>T (p.Lys666Met) c.1964A>T (p.Lys655Met) c.999A>T c.1592A>T (p.Lys531Met) c.1559A>T (p.Lys520Met) n.1029+4539T>A c.1610A>T (p.Lys537Met) c.1253A>T (p.Lys418Met) n.2311A>T | dbSNP |