Papers
RefSeq ID
Protein change
DNA change
1–12 of 1264 variants
NM_001080534.3
p.R171H
c.512G>A
NM_001080534.3
p.R1182Q
c.3545G>A
NM_001080534.3
p.D304E
c.912C>A
NM_001080534.3
p.D304E
c.912C>G
NM_001080534.3
p.R834Q
c.2501G>A
NM_001080534.3
p.V2196A
c.6587T>C
NM_001080534.3
p.R36H
c.107G>A
NM_001080534.3
p.E85E
c.255G>A
NM_001080534.3
p.R95*
c.283C>T
NM_001080534.3
p.R95L
c.284G>T
NM_001080534.3
p.V96E
c.287T>A
NM_001080534.3
p.R152C
c.454C>T