Papers
RefSeq ID
Protein change
DNA change
1–12 of 312 variants
NM_020451.3
p.G315S
c.943G>A
NM_020451.3
p.R466Q
c.1397G>A
NM_020451.3
p.N238insFs
c.713dupA
NM_020451.3
p.M1V
c.1A>G
NM_020451.3
p.L482delFs
c.1446delC
NM_020451.3
p.R268C
c.802C>T
NM_020451.3
p.R5_Q8insFs
c.13_22dup10
NM_020451.3
p.G273R
c.817G>A
NM_020451.3
p.H293R
c.878A>G
NM_020451.3
p.W453S
c.1358G>C
NM_020451.3
p.R439*
c.1315C>T
NM_020451.3
p.M525R
c.1574T>G