Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38554309C>TCA018551SCN5Ac.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
3g.38554309C>GCA018558SCN5Ac.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

Number of alleles fetched