Papers
RefSeq ID
Protein change
DNA change
1–12 of 138 variants
NM_054027.6
p.F377del1
c.1129_1130delGAA
NM_054027.6
p.S375del1
c.1123_1124delGGA
NM_054027.6
p.M48T
c.143T>C
NM_054027.6
p.P5L
c.14C>T
NM_054027.6
p.G389R
c.1165G>C
NM_054027.6
p.G389R
c.1165G>A
NM_054027.6
p.R187Q
c.560G>A
NM_054027.6
p.L244S
c.731T>C
NM_054027.6
p.C331R
c.991T>C
NM_054027.6
p.E490del1
c.1468_1469delCTC
NM_054027.6
p.P5T
c.13C>A
NM_054027.6
p.W292R
c.874T>C