Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_017550.3
p.P366L
c.1097C>T
NM_017550.3
p.R289W
c.865C>T
NM_017550.3
p.K328_V329Splc
c.984+1G>T
NM_017550.3
p.M1K
c.2T>A
NM_017550.3
p.E3insFs
c.8_9insG
NM_017550.3
p.V15F
c.43G>T
NM_017550.3
p.Q52H
c.156G>T
NM_017550.3
p.Q52H
c.156G>C
NM_017550.3
p.C60C
c.180C>T
NM_017550.3
p.D77D
c.231C>T
NM_017550.3
p.E89K
c.265G>A
NM_017550.3
p.Q125K
c.373C>A