Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_016417.3
p.K51del1
c.151_152delAAG
NM_016417.3
p.Q98Q
c.294A>G
NM_016417.3
p.L148S
c.443T>C
NM_016417.3
p.K101Q
c.301A>C
NM_016417.3
p.Q66P
c.197A>C
NM_016417.3
p.G28insFs
c.82_83ins8
NM_016417.3
p.Q66*
c.196C>T
NM_016417.3
p.M128K
c.383T>A
NM_016417.3
p.K151_D153del3
c.451_458del9
NM_016417.3
p.K59Q
c.175A>C
NM_016417.3
p.C67S
c.199T>A
NM_016417.3
p.C67Y
c.200G>A