Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_001098622.3
p.R153W
c.457C>T
NM_001098622.3
p.E120K
c.358G>A
NM_001098622.3
p.T8I
c.23C>T
NM_001098622.3
p.A45ins6
c.134_135ins18
NM_001098622.3
p.T118T
c.354A>G
NM_001098622.3
p.G171_A172ins0
c.512_514dupGAG
NM_001098622.3
p.S189F
c.566C>T
NM_001098622.3
p.F4delFs
c.12delT
NM_001098622.3
p.F4fs
c.10_11fs
NM_001098622.3
p.L13F
c.39G>C
NM_001098622.3
p.L13F
c.39G>T
NM_001098622.3
p.E24K
c.70G>A