Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_005105.5
p.E23Splc
c.67+32G>C
NM_005105.5
p.S69Splc
c.206-13C>A
NM_005105.5
p.L118R
c.353T>G
NM_005105.5
p.R163*
c.487C>T
NM_005105.5
p.M1V
c.1A>G
NM_005105.5
p.A2A
c.6G>C
NM_005105.5
p.S69_V70insFs
c.207_208ins4
NM_005105.5
p.S69_V70insFs
c.207_208ins5
NM_005105.5
p.R109*
c.325C>T
NM_005105.5
p.K114_G115Splc
c.343-2A>G
NM_005105.5
p.G115fs
c.343_344fs
NM_005105.5
p.Y124F
c.371A>T