Papers
RefSeq ID
Protein change
DNA change
1–12 of 316 variants
NM_001033855.3
p.T65I
c.194C>T
NM_001033855.3
p.H35D
c.103C>G
NM_001033855.3
p.G153R
c.457G>C
NM_001033855.3
p.G153R
c.457G>A
NM_001033855.3
p.L70del1
c.208_209delTAA
NM_001033855.3
p.R81*
c.241C>T
NM_001033855.3
p.G211V
c.632G>T
NM_001033855.3
p.R155Splc
c.464+1G>A
NM_001033855.3
p.P171R
c.512C>G
NM_001033855.3
p.Y199*
c.597C>G
NM_001033855.3
p.Y199*
c.597C>A
NM_001033855.3
p.P433_C436insFs
c.1299_1306dup8