Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_177964.5
p.R32C
c.94C>T
NM_177964.5
p.N110Splc
c.329-9C>G
NM_177964.5
p.S30L
c.89C>T
NM_177964.5
p.D31Y
c.91G>T
NM_177964.5
p.I53I
c.159C>T
NM_177964.5
p.K64E
c.190A>G
NM_177964.5
p.N67N
c.201C>T
NM_177964.5
p.N99S
c.296A>G
NM_177964.5
p.L115S
c.344T>C
NM_177964.5
p.R148*
c.442C>T
NM_177964.5
p.E151K
c.451G>A
NM_177964.5
p.H181Q
c.543C>A