Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001042406.2
p.Q36_E37Splc
c.108+8033A>C
NM_001042406.2
p.E52D
c.156A>T
NM_001042406.2
p.E52D
c.156A>C
NM_001042406.2
p.I75S
c.224T>G
NM_001042406.2
p.S146P
c.436T>C
NM_001042406.2
p.E160Q
c.478G>C
NM_001042406.2
p.M175I
c.525G>T
NM_001042406.2
p.M175I
c.525G>C
NM_001042406.2
p.M175I
c.525G>A
NM_001042406.2
p.R180Q
c.539G>A
NM_001042406.2
p.L207S
c.620T>C
NM_001042406.2
p.E214G
c.641A>G