Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_001130918.3
p.Q98*
c.292C>T
NM_001130918.3
p.E712D
c.2136G>T
NM_001130918.3
p.E712D
c.2136G>C
NM_001130918.3
p.R27*
c.79C>T
NM_001130918.3
p.R173W
c.517C>T
NM_001130918.3
p.M1V
c.1A>G
NM_001130918.3
p.W20G
c.58T>G
NM_001130918.3
p.C52fs
c.154_155fs
NM_001130918.3
p.C52_S57delFs
c.154_170del17
NM_001130918.3
p.E59K
c.175G>A
NM_001130918.3
p.K105_K106delFs
c.315_316delTC
NM_001130918.3
p.R108Splc
c.324-190T>C