Papers
RefSeq ID
Protein change
DNA change
1–12 of 373 variants
NM_022356.4
p.E360_S361Splc
c.1080+1G>T
NM_022356.4
p.R681*
c.2041C>T
NM_022356.4
p.G349R
c.1045G>C
NM_022356.4
p.G349R
c.1045G>A
NM_022356.4
p.L489P
c.1466T>C
NM_022356.4
p.R685_D686Splc
c.2055+18G>A
NM_022356.4
p.Q78delFs
c.232delG
NM_022356.4
p.R210*
c.628C>T
NM_022356.4
p.K408Splc
c.1224-80G>A
NM_022356.4
p.G449Splc
c.1346-1G>C
NM_022356.4
p.N491_V492Splc
c.1473+1G>T
NM_022356.4
p.Y552*
c.1656C>A