Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166306571T>C | CA341942 | SCN9A | c.406A>G (p.Ile136Val) n.761A>G c.*149A>G (n.*149A>G) c.1A>G (p.Ile1Val) c.19A>G (p.Ile7Val) n.720A>G | ClinVar dbSNP gnomAD v4 |
2 | g.166306571T= | CA1304977983 | SCN9A | c.406A= (p.Ile136=) n.761A= c.*149A= (n.*149A=) c.1A= (p.Ile1=) c.19A= (p.Ile7=) n.720A= | dbSNP |
2 | g.166306571T>G | CA349095433 | SCN9A | c.406A>C (p.Ile136Leu) n.761A>C c.*149A>C (n.*149A>C) c.1A>C (p.Ile1Leu) c.19A>C (p.Ile7Leu) n.720A>C | dbSNP gnomAD v4 |