Papers
RefSeq ID
Protein change
DNA change
1–12 of 169 variants
NM_012188.5
p.T226I
c.677C>T
NM_012188.5
p.P239L
c.716C>T
NM_012188.5
p.R93R
c.279G>A
NM_012188.5
p.R123W
c.367C>T
NM_012188.5
p.M1T
c.2T>C
NM_012188.5
p.L146F
c.436C>T
NM_012188.5
p.N161del1
c.481_482delAAC
NM_012188.5
p.G258E
c.773G>A
NM_012188.5
p.R267Q
c.800G>A
NM_012188.5
p.Y348Y
c.1044T>C
NM_012188.5
p.S147G
c.439A>G
NM_012188.5
p.Q148E
c.442C>G