Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_020904.3
p.I37V
c.109A>G
NM_020904.3
p.P337L
c.1010C>T
NM_020904.3
p.R5*
c.13C>T
NM_020904.3
p.T137A
c.409A>G
NM_020904.3
p.S575F
c.1724C>T
NM_020904.3
p.R715C
c.2143C>T
NM_020904.3
p.P769delFs
c.2306delG
NM_020904.3
p.N52I
c.155A>T
NM_020904.3
p.R75H
c.224G>A
NM_020904.3
p.R75_H82ins2
c.225_245dup21
NM_020904.3
p.L101_P108delFs
c.302_323del22
NM_020904.3
p.P111Q
c.332C>A