Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_001033677.2
p.R308*
c.922C>T
NM_001033677.2
p.M1L
c.1A>C
NM_001033677.2
p.M1L
c.1A>T
NM_001033677.2
p.A7_F9del0
c.20_25del6
NM_001033677.2
p.F9S
c.26T>C
NM_001033677.2
p.G13E
c.38G>A
NM_001033677.2
p.R20_G25del6
c.58_74del18
NM_001033677.2
p.G23R
c.67G>A
NM_001033677.2
p.G23V
c.68G>T
NM_001033677.2
p.E29*
c.85G>T
NM_001033677.2
p.G37_G49delFs
c.110_146del37
NM_001033677.2
p.P38insFs
c.112_113ins5