Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
NM_033116.6
p.R497*
c.1489C>T
NM_033116.6
p.R429H
c.1286G>A
NM_033116.6
p.R681H
c.2042G>A
NM_033116.6
p.R39insFs
c.115_116dupCG
NM_033116.6
p.T585_T586del1
c.1755_1757delGTT
NM_033116.6
p.T210A
c.628A>G
NM_033116.6
p.T586del1
c.1756_1757delCGT
NM_033116.6
p.E614Splc
c.1840+2T>C
NM_033116.6
p.K81M
c.242A>T
NM_033116.6
p.D84N
c.250G>A
NM_033116.6
p.N110del1
c.328_329delGTT
NM_033116.6
p.D194H
c.580G>C