Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
NM_007199.3
p.H57R
c.170A>G
NM_007199.3
p.R97*
c.289C>T
NM_007199.3
p.G106Splc
c.316+1471T>C
NM_007199.3
p.V134M
c.400G>A
NM_007199.3
p.P22L
c.65C>T
NM_007199.3
p.W76*
c.227G>A
NM_007199.3
p.W76*
c.228G>A
NM_007199.3
p.L109F
c.327G>C
NM_007199.3
p.L109F
c.327G>T
NM_007199.3
p.P111A
c.331C>G
NM_007199.3
p.K127_E128Splc
c.381+1G>T
NM_007199.3
p.I147V
c.439A>G