Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
NM_004397.6
p.R373Q
c.1118G>A
NM_004397.6
p.M62V
c.184A>G
NM_004397.6
p.Y296*
c.888T>G
NM_004397.6
p.Y296*
c.888T>A
NM_004397.6
p.H365R
c.1094A>G
NM_004397.6
p.C390R
c.1168T>C
NM_004397.6
p.T391P
c.1171A>C
NM_004397.6
p.E476G
c.1427A>G
NM_004397.6
p.M1insFs
c.2_3insC
NM_004397.6
p.M1_S2insFs
c.3_4insA
NM_004397.6
p.E7K
c.19G>A
NM_004397.6
p.N18I
c.53A>T