Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_001483.3
p.V233M
c.697G>A
NM_001483.3
p.R20Q
c.59G>A
NM_001483.3
p.P28L
c.83C>T
NM_001483.3
p.R31Splc
c.93-51T>C
NM_001483.3
p.L46P
c.137T>C
NM_001483.3
p.R57T
c.170G>C
NM_001483.3
p.N63_A66delFs
c.189_198del10
NM_001483.3
p.E69K
c.205G>A
NM_001483.3
p.N72Y
c.214A>T
NM_001483.3
p.F78L
c.232T>C
NM_001483.3
p.F78L
c.234T>A
NM_001483.3
p.F78L
c.234T>G