Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_015308.5
p.P20delFs
c.58_59delGG
NM_015308.5
p.T58_T59del2
c.172_176del6
NM_015308.5
p.T794A
c.2380A>G
NM_015308.5
p.N830K
c.2490C>G
NM_015308.5
p.N830K
c.2490C>A
NM_015308.5
p.Q16*
c.46C>T
NM_015308.5
p.G21fs
c.61_62fs
NM_015308.5
p.P20del1
c.58_60delCGG
NM_015308.5
p.G21V
c.62G>T
NM_015308.5
p.G21delFs
c.62delC
NM_015308.5
p.D30H
c.88G>C
NM_015308.5
p.T58_A60del0
c.174_179del6