Papers
RefSeq ID
Protein change
DNA change
1–12 of 118 variants
NM_021194.3
p.L17_F19delFs
c.51_57del7
NM_021194.3
p.L51_A57del7
c.151_170del21
NM_021194.3
p.G151E
c.452G>A
NM_021194.3
p.T301I
c.902C>T
NM_021194.3
p.E391K
c.1171G>A
NM_021194.3
p.I417T
c.1250T>C
NM_021194.3
p.M1insFs
c.1dupA
NM_021194.3
p.G2E
c.5G>A
NM_021194.3
p.C3G
c.7T>G
NM_021194.3
p.C3R
c.7T>C
NM_021194.3
p.T18S
c.52A>T
NM_021194.3
p.F19V
c.55T>G