Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_002143.3
p.A190T
c.568G>A
NM_002143.3
p.T71N
c.212C>A
NM_002143.3
p.N75K
c.225C>A
NM_002143.3
p.N75K
c.225C>G
NM_002143.3
p.R17*
c.49C>T
NM_002143.3
p.A190P
c.568G>C
NM_002143.3
p.A61V
c.182C>T
NM_002143.3
p.W103*
c.308G>A
NM_002143.3
p.R70P
c.209G>C
NM_002143.3
p.R83Q
c.248G>A
NM_002143.3
p.M1T
c.2T>C
NM_002143.3
p.K3_Q4delins
c.9_10delinsTT