Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_014164.6
p.S35A
c.103T>G
NM_014164.6
p.R45*
c.133C>T
NM_014164.6
p.R176H
c.527G>A
NM_014164.6
p.M1T
c.2T>C
NM_014164.6
p.L15_I16insFs
c.45_46insT
NM_014164.6
p.P18delFs
c.53delC
NM_014164.6
p.P18S
c.52C>T
NM_014164.6
p.R20K
c.59G>A
NM_014164.6
p.T28M
c.83C>T
NM_014164.6
p.S29F
c.86C>T
NM_014164.6
p.R45R
c.135A>T
NM_014164.6
p.V50_Y51delFs
c.148_152del5