Papers
RefSeq ID
Protein change
DNA change
1–12 of 171 variants
NM_020245.5
p.P949S
c.2845C>T
NM_020245.5
p.S563F
c.1688C>T
NM_020245.5
p.R282C
c.844C>T
NM_020245.5
p.H632Q
c.1896T>A
NM_020245.5
p.H632Q
c.1896T>G
NM_020245.5
p.S649P
c.1945T>C
NM_020245.5
p.N769T
c.2306A>C
NM_020245.5
p.P836S
c.2506C>T
NM_020245.5
p.V1022fs
c.3064_3065fs
NM_020245.5
p.A1059T
c.3175G>A
NM_020245.5
p.L1200F
c.3600G>C
NM_020245.5
p.L1200F
c.3600G>T