Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_153348.3
p.R192Q
c.575G>A
NM_153348.3
p.V438delFs
c.1312_1313delGT
NM_153348.3
p.R58G
c.172C>G
NM_153348.3
p.T211A
c.631A>G
NM_153348.3
p.E253D
c.759G>C
NM_153348.3
p.E253D
c.759G>T
NM_153348.3
p.M258I
c.774G>A
NM_153348.3
p.M258I
c.774G>C
NM_153348.3
p.M258I
c.774G>T
NM_153348.3
p.V438fs
c.1312_1313fs
NM_153348.3
p.T536M
c.1607C>T
NM_153348.3
p.R539Q
c.1616G>A