Papers
RefSeq ID
Protein change
DNA change
1–12 of 106 variants
NM_198271.5
p.L241_L245delFs
c.723_733del11
NM_198271.5
p.G326R
c.976G>C
NM_198271.5
p.G326R
c.976G>A
NM_198271.5
p.E357*
c.1069G>T
NM_198271.5
p.P46insFs
c.138dupC
NM_198271.5
p.R83H
c.248G>A
NM_198271.5
p.D242fs
c.724_725fs
NM_198271.5
p.D295fs
c.883_884fs
NM_198271.5
p.N367del1
c.1099_1100delGTT
NM_198271.5
p.W77*
c.230G>A
NM_198271.5
p.W77*
c.231G>A
NM_198271.5
p.T101fs
c.301_302fs