Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_007260.3
p.S122A
c.364T>G
NM_007260.3
p.R182Q
c.545G>A
NM_007260.3
p.L30insFs
c.89dupT
NM_007260.3
p.L30fs
c.88_89fs
NM_007260.3
p.G32E
c.95G>A
NM_007260.3
p.G37Splc
c.111-14C>T
NM_007260.3
p.A59Splc
c.176+1G>A
NM_007260.3
p.V64L
c.190G>C
NM_007260.3
p.V64L
c.190G>T
NM_007260.3
p.M70L
c.208A>C
NM_007260.3
p.M70L
c.208A>T
NM_007260.3
p.W75Splc
c.224+18G>T