Papers
RefSeq ID
Protein change
DNA change
1–12 of 24 variants
NM_001009994.3
p.R80*
c.238A>T
NM_001009994.3
p.R80Splc
c.240-4T>G
NM_001009994.3
p.L100fs
c.298_299fs
NM_001009994.3
p.L100delFs
c.299delT
NM_001009994.3
p.Y112N
c.334T>A
NM_001009994.3
p.A27E
c.80C>A
NM_001009994.3
p.A43D
c.128C>A
NM_001009994.3
p.G64R
c.190G>A
NM_001009994.3
p.F75L
c.223T>C
NM_001009994.3
p.F75L
c.225C>A
NM_001009994.3
p.F75L
c.225C>G
NM_001009994.3
p.R80G
c.238A>G