Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_004839.4
p.R185P
c.554G>C
NM_004839.4
p.P63L
c.188C>T
NM_199330.3
p.R196P
c.587G>C
NM_004839.4
p.S196T
c.587G>C
NM_199330.3
p.L280insFs
c.840dupC
NM_199330.3
p.T198_T199del0
c.592_597del6
NM_004839.4
p.I61V
c.181A>G
NM_004839.4
p.E255G
c.764A>G
NM_199330.3
p.I276V
c.826A>G
NM_199330.3
p.P278_Q279delFs
c.832_836del5
NM_004839.4
p.L280_E281insFs
c.840_841insC
NM_004839.4
p.L280insFs
c.840dupA