Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_004565.3
p.Q185*
c.553C>T
NM_004565.3
p.F52F
c.156C>T
NM_004565.3
p.S70A
c.208T>G
NM_004565.3
p.R226Q
c.677G>A
NM_004565.3
p.E26E
c.78G>A
NM_004565.3
p.Q180*
c.538C>T
NM_004565.3
p.A196fs
c.586_587fs
NM_004565.3
p.S275L
c.824C>T
NM_004565.3
p.D331E
c.993T>A
NM_004565.3
p.D331E
c.993T>G
NM_004565.3
p.S4*
c.11C>A
NM_004565.3
p.L28_I29Splc
c.84+10837A>G