Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_001716.5
p.E34K
c.100G>A
NM_001716.5
p.H314_C315delFs
c.942_943delCT
NM_001716.5
p.K339R
c.1016A>G
NM_001716.5
p.G344S
c.1030G>A
NM_001716.5
p.T6M
c.17C>T
NM_001716.5
p.L17_F18Splc
c.52-1G>A
NM_001716.5
p.F18L
c.54C>G
NM_001716.5
p.E20Q
c.58G>C
NM_001716.5
p.D25N
c.73G>A
NM_001716.5
p.N26K
c.78C>A
NM_001716.5
p.N26K
c.78C>G
NM_001716.5
p.D29N
c.85G>A