Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38554309C>T | CA018551 | SCN5A | c.4780G>A (p.Asp1594Asn) c.4783G>A (p.Asp1595Asn) c.4729G>A (p.Asp1577Asn) c.4621G>A (p.Asp1541Asn) c.4714+66G>A (n.4714+66G>A) n.241G>A c.4654G>A (p.Asp1552Asn) c.4726G>A (p.Asp1576Asn) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38554309C>G | CA018558 | SCN5A | c.4780G>C (p.Asp1594His) c.4783G>C (p.Asp1595His) c.4729G>C (p.Asp1577His) c.4621G>C (p.Asp1541His) c.4714+66G>C (n.4714+66G>C) n.241G>C c.4654G>C (p.Asp1552His) c.4726G>C (p.Asp1576His) | ClinVar dbSNP gnomAD v4 |