Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
NM_018714.3
p.A887insFs
c.2660_2661insC
NM_018714.3
p.M357Splc
c.1070+5G>A
NM_018714.3
p.T350M
c.1049C>T
NM_018714.3
p.N392S
c.1175A>G
NM_018714.3
p.Q111Q
c.333G>A
NM_018714.3
p.A181A
c.543A>G
NM_018714.3
p.R831Q
c.2492G>A
NM_018714.3
p.R89C
c.265C>T
NM_018714.3
p.D205N
c.613G>A
NM_018714.3
p.G248Splc
c.742+1G>A
NM_018714.3
p.Q301H
c.903G>C
NM_018714.3
p.Q301H
c.903G>T