Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_002796.3
p.I234T
c.701T>C
NM_002796.3
p.P16fs
c.46_47fs
NM_002796.3
p.A3A
c.9G>A
NM_002796.3
p.Y222*
c.666C>A
NM_002796.3
p.Y222*
c.666C>G
NM_002796.3
p.G15insFs
c.44_45insG
NM_002796.3
p.P25P
c.75G>A
NM_002796.3
p.T44_R45insG
c.130_134ins3
NM_002796.3
p.S165Splc
c.494+17A>G
NM_002796.3
p.D212_V214del0
c.634_642del9
NM_002796.3
p.L78fs
c.232_233fs
NM_002796.3
p.A176P
c.526G>C