Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166204448A>T | CA349058419 | SCN1A-AS1,SCN9A | c.4415T>A (p.Ile1472Asn) c.4259T>A (p.Ile1420Asn) c.4382T>A (p.Ile1461Asn) n.792T>A n.611+4630A>T c.4028T>A (p.Ile1343Asn) c.3671T>A (p.Ile1224Asn) | ClinVar dbSNP |
2 | g.166204448A>G | CA118152 | SCN1A-AS1,SCN9A | c.4415T>C (p.Ile1472Thr) c.4259T>C (p.Ile1420Thr) c.4382T>C (p.Ile1461Thr) n.792T>C n.611+4630A>G c.4028T>C (p.Ile1343Thr) c.3671T>C (p.Ile1224Thr) | ClinVar dbSNP |