| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.165131366C>T | CA1938952 | SCN2A,SCN3A | c.2392G>A (p.Asp798Asn) c.2443G>A (p.Asp815Asn) c.*284G>A (n.*284G>A) c.541G>A (p.Asp181Asn) c.2305G>A (p.Asp769Asn) c.2296G>A (p.Asp766Asn) c.-125+1162C>T (n.-125+1162C>T) c.-393+1162C>T (n.-393+1162C>T) c.-278+1162C>T (n.-278+1162C>T) c.553G>A (p.Asp185Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.165131366C= | CA1304452610 | SCN2A,SCN3A | c.2392G= (p.Asp798=) c.2443G= (p.Asp815=) c.*284G= (n.*284G=) c.541G= (p.Asp181=) c.2305G= (p.Asp769=) c.2296G= (p.Asp766=) c.-125+1162C= (n.-125+1162C=) c.-393+1162C= (n.-393+1162C=) c.-278+1162C= (n.-278+1162C=) c.553G= (p.Asp185=) | dbSNP |
| 2 | g.165131366C>A | CA349043342 | SCN2A,SCN3A | c.2392G>T (p.Asp798Tyr) c.2443G>T (p.Asp815Tyr) c.*284G>T (n.*284G>T) c.541G>T (p.Asp181Tyr) c.2305G>T (p.Asp769Tyr) c.2296G>T (p.Asp766Tyr) c.-125+1162C>A (n.-125+1162C>A) c.-393+1162C>A (n.-393+1162C>A) c.-278+1162C>A (n.-278+1162C>A) c.553G>T (p.Asp185Tyr) | dbSNP gnomAD v4 |
| 2 | g.165131366C>G | CA349043339 | SCN2A,SCN3A | c.2392G>C (p.Asp798His) c.2443G>C (p.Asp815His) c.*284G>C (n.*284G>C) c.541G>C (p.Asp181His) c.2305G>C (p.Asp769His) c.2296G>C (p.Asp766His) c.-125+1162C>G (n.-125+1162C>G) c.-393+1162C>G (n.-393+1162C>G) c.-278+1162C>G (n.-278+1162C>G) c.553G>C (p.Asp185His) | dbSNP gnomAD v4 |