Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_018321.4
p.P164S
c.490C>T
NM_018321.4
p.A275T
c.823G>A
NM_018321.4
p.M1insFs
c.1_2insA
NM_018321.4
p.G10A
c.29G>C
NM_018321.4
p.V14I
c.40G>A
NM_018321.4
p.Q15*
c.43C>T
NM_018321.4
p.A16V
c.47C>T
NM_018321.4
p.P19S
c.55C>T
NM_018321.4
p.E38D
c.114G>C
NM_018321.4
p.E38D
c.114G>T
NM_018321.4
p.K53_G54Splc
c.159+2T>G
NM_018321.4
p.R61W
c.181C>T