Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.156138719C>TCA014882LMNAc.1594C>T (p.Arg532Cys)
c.1818+112C>T (p.=)
c.1930C>T (p.Arg644Cys)
c.1840C>T (p.Arg614Cys)
c.1306C>T (p.Arg436Cys)
n.2219C>T
n.2217C>T
c.1633C>T (p.Arg545Cys)
n.2143C>T
n.514C>T
n.718C>T (p.Arg240Cys)
ClinVar dbSNP ExAC gnomAD COSMIC
1g.156138719C>ACA015174LMNAc.1594C>A (p.Arg532Ser)
c.1818+112C>A (p.=)
c.1930C>A (p.Arg644Ser)
c.1840C>A (p.Arg614Ser)
c.1306C>A (p.Arg436Ser)
n.2219C>A
n.2217C>A
c.1633C>A (p.Arg545Ser)
n.2143C>A
n.514C>A
n.718C>A (p.Arg240Ser)
ClinVar dbSNP

Number of alleles fetched