Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_017588.3
p.K7Q
c.19A>C
NM_017588.3
p.Y191F
c.572A>T
NM_017588.3
p.D107A
c.320A>C
NM_017588.3
p.F133L
c.397T>C
NM_017588.3
p.F133L
c.399T>A
NM_017588.3
p.F133L
c.399T>G
NM_017588.3
p.D172A
c.515A>C
NM_017588.3
p.T208M
c.623C>T
NM_017588.3
p.S62N
c.185G>A
NM_017588.3
p.A169P
c.505G>C
NM_017588.3
p.R196C
c.586C>T
NM_017588.3
p.A201V
c.602C>T