Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_001010844.4
p.Q47E
c.139C>G
NM_001010844.4
p.N26K
c.78C>A
NM_001010844.4
p.N26K
c.78C>G
NM_001010844.4
p.L34P
c.101T>C
NM_001010844.4
p.P35P
c.105G>A
NM_001010844.4
p.P40R
c.119C>G
NM_001010844.4
p.S56N
c.167G>A
NM_001010844.4
p.R91G
c.271C>G
NM_001010844.4
p.I95L
c.283A>C
NM_001010844.4
p.G103D
c.308G>A
NM_001010844.4
p.Q105_A106Splc
c.316-2A>G
NM_001010844.4
p.V111fs
c.331_332fs