Papers
RefSeq ID
Protein change
DNA change
1–12 of 157 variants
NM_001122772.3
p.A240T
c.718G>A
NM_001122772.3
p.A243_G244del1
c.728_730delCGG
NM_001122772.3
p.P301A
c.901C>G
NM_001122772.3
p.P405L
c.1214C>T
NM_001122772.3
p.E438Q
c.1312G>C
NM_001122772.3
p.S81_S82delFs
c.243_244delTG
NM_001122772.3
p.P187L
c.560C>T
NM_001122772.3
p.A243_G244del2
c.727_731del6
NM_001122772.3
p.A472T
c.1414G>A
NM_001122772.3
p.G502R
c.1504G>C
NM_001122772.3
p.G502R
c.1504G>A
NM_001122772.3
p.E659K
c.1975G>A