Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001282322.3
p.R150*
c.448C>T
NM_001282322.3
p.C27S
c.79T>A
NM_001282322.3
p.C27S
c.80G>C
NM_001282322.3
p.F59I
c.175T>A
NM_001282322.3
p.I89I
c.267C>T
NM_001282322.3
p.K115Splc
c.345-1G>A
NM_001282322.3
p.P138T
c.412C>A
NM_001282322.3
p.R140Q
c.419G>A
NM_001282322.3
p.P165T
c.493C>A
NM_001282322.3
p.V173G
c.518T>G
NM_001282322.3
p.A217P
c.649G>C
NM_001282322.3
p.S223P
c.667T>C