Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_001080531.3
p.L57M
c.169C>A
NM_001080531.3
p.H3Y
c.7C>T
NM_001080531.3
p.R28C
c.82C>T
NM_001080531.3
p.V45V
c.135G>A
NM_001080531.3
p.K55R
c.164A>G
NM_001080531.3
p.Q56fs
c.166_167fs
NM_001080531.3
p.N83S
c.248A>G
NM_001080531.3
p.K102N
c.306A>C
NM_001080531.3
p.K102N
c.306A>T
NM_001080531.3
p.D117Y
c.349G>T
NM_001080531.3
p.E185*
c.553G>T
NM_001080531.3
p.W194*
c.581G>A