Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_001013653.3
p.Q27H
c.81G>C
NM_001013653.3
p.Q27H
c.81G>T
NM_001013653.3
p.F273S
c.818T>C
NM_001013653.3
p.P44insFs
c.132dupC
NM_001013653.3
p.H252Y
c.754C>T
NM_001013653.3
p.A271V
c.812C>T
NM_001013653.3
p.S7L
c.20C>T
NM_001013653.3
p.W6del1
c.16_18delCCA
NM_001013653.3
p.L16_L18del0
c.46_54del9
NM_001013653.3
p.E45fs
c.133_134fs
NM_001013653.3
p.V46_L54del9
c.136_161del27
NM_001013653.3
p.S56fs
c.166_167fs