Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_052966.4
p.L609P
c.1826T>C
NM_052966.4
p.K160E
c.478A>G
NM_052966.4
p.R310H
c.929G>A
NM_052966.4
p.D692N
c.2074G>A
NM_052966.4
p.A66V
c.197C>T
NM_052966.4
p.H285L
c.854A>T
NM_052966.4
p.S632fs
c.1894_1895fs
NM_052966.4
p.P643_P649delFs
c.1927_1946del20
NM_052966.4
p.A871V
c.2612C>T
NM_052966.4
p.G2G
c.6C>T
NM_052966.4
p.Q8L
c.23A>T
NM_052966.4
p.G19Splc
c.55+27G>C