Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_017762.3
p.D140H
c.418G>C
NM_017762.3
p.G200del1
c.598_599delTCC
NM_017762.3
p.R648H
c.1943G>A
NM_017762.3
p.M1insFs
c.2dupT
NM_017762.3
p.S13C
c.38C>G
NM_017762.3
p.P17S
c.49C>T
NM_017762.3
p.V45I
c.133G>A
NM_017762.3
p.A56_T57insFs
c.168_169insAA
NM_017762.3
p.E106E
c.318G>A
NM_017762.3
p.I143delFs
c.427delT
NM_017762.3
p.I163V
c.487A>G
NM_017762.3
p.G194R
c.580G>C