Papers
RefSeq ID
Protein change
DNA change
1–12 of 640 variants
NM_001211.6
p.R349Q
c.1046G>A
NM_001211.6
p.R550Q
c.1649G>A
NM_001211.6
p.R814H
c.2441G>A
NM_001211.6
p.L1012P
c.3035T>C
NM_001211.6
p.R194*
c.580C>T
NM_001211.6
p.Q921H
c.2763G>C
NM_001211.6
p.N1032H
c.3094A>C
NM_001211.6
p.T40M
c.119C>T
NM_001211.6
p.L737*
c.2210T>G
NM_001211.6
p.Q921H
c.2763G>T
NM_001211.6
p.P334L
c.1001C>T
NM_001211.6
p.E413K
c.1237G>A