Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_031912.5
p.E309D
c.927G>C
NM_031912.5
p.E309D
c.927G>T
NM_031912.5
p.T50I
c.149C>T
NM_031912.5
p.G245D
c.734G>A
NM_031912.5
p.M1insFs
c.2dupT
NM_031912.5
p.G15R
c.43G>A
NM_031912.5
p.G15R
c.43G>C
NM_031912.5
p.L20del1
c.58_60delCTG
NM_031912.5
p.L21del1
c.61_62delTTG
NM_031912.5
p.A24P
c.70G>C
NM_031912.5
p.P63L
c.188C>T
NM_031912.5
p.S107L
c.320C>T