Papers
RefSeq ID
Protein change
DNA change
1–12 of 293 variants
NM_001134.3
p.Q588Q
c.1764G>A
NM_001134.3
p.F11L
c.31T>C
NM_001134.3
p.W181*
c.542G>A
NM_001134.3
p.W181*
c.543G>A
NM_001134.3
p.I238Splc
c.713+5G>A
NM_001134.3
p.M1I
c.3G>A
NM_001134.3
p.K130M
c.389A>T
NM_001134.3
p.I284_M285delFs
c.851_854del4
NM_001134.3
p.C538Y
c.1613G>A
NM_001134.3
p.I554insFs
c.1660dupA
NM_001134.3
p.V4V
c.12G>C
NM_001134.3
p.E5G
c.14A>G