Papers
RefSeq ID
Protein change
DNA change
1–12 of 66 variants
NM_014256.4
p.R328H
c.983G>A
NM_014256.4
p.R8Q
c.23G>A
NM_014256.4
p.T54P
c.160A>C
NM_014256.4
p.R55R
c.165C>T
NM_014256.4
p.P58_A59delFs
c.174_175delGG
NM_014256.4
p.P60_C61del1
c.180_182delGTG
NM_014256.4
p.H91H
c.273C>T
NM_014256.4
p.L174_Q175del2
c.520_524del6
NM_014256.4
p.D180_F182del3
c.538_545del9
NM_014256.4
p.R246L
c.737G>T
NM_014256.4
p.R263W
c.787C>T
NM_014256.4
p.T319M
c.956C>T