Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_015704.3
p.C108S
c.322T>A
NM_015704.3
p.C108S
c.323G>C
NM_015704.3
p.M1T
c.2T>C
NM_015704.3
p.Y7insFs
c.20_21insTG
NM_015704.3
p.P26S
c.76C>T
NM_015704.3
p.P26L
c.77C>T
NM_015704.3
p.E34D
c.102A>T
NM_015704.3
p.E34D
c.102A>C
NM_015704.3
p.I36I
c.108C>A
NM_015704.3
p.D46Y
c.136G>T
NM_015704.3
p.G53A
c.158G>C
NM_015704.3
p.P60fs
c.178_179fs