Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
NM_018303.6
p.I13_S14delins
c.38_40delinsGGA
NM_018303.6
p.R117H
c.350G>A
NM_018303.6
p.E163Q
c.487G>C
NM_018303.6
p.L338_L339delins
c.1014_1015delinsCA
NM_018303.6
p.P347P
c.1041A>T
NM_018303.6
p.R437*
c.1309C>T
NM_018303.6
p.K457*
c.1369A>T
NM_018303.6
p.L458L
c.1374C>T
NM_018303.6
p.V459I
c.1375G>A
NM_018303.6
p.G487C
c.1459G>T
NM_018303.6
p.S486_G487delins
c.1458_1459delinsCT
NM_018303.6
p.G487V
c.1460G>T