Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_018198.4
p.E115delFs
c.343_344delTC
NM_018198.4
p.I343_S344del2
c.1027_1031del6
NM_018198.4
p.E115fs
c.343_344fs
NM_018198.4
p.E115fs
c.343_344fs
NM_018198.4
p.V267M
c.799G>A
NM_018198.4
p.T290S
c.868A>T
NM_018198.4
p.T290S
c.869C>G
NM_018198.4
p.D430N
c.1288G>A
NM_018198.4
p.E116fs
c.346_347fs
NM_018198.4
p.V322L
c.964G>T
NM_018198.4
p.V322L
c.964G>C
NM_018198.4
p.T3R
c.8C>G