Papers
RefSeq ID
Protein change
DNA change
1–12 of 116 variants
NM_182493.3
p.V180L
c.538G>T
NM_182493.3
p.V180L
c.538G>C
NM_182493.3
p.L627_Q629delFs
c.1879_1885del7
NM_182493.3
p.P639fs
c.1915_1916fs
NM_182493.3
p.*820S
c.2459A>C
NM_182493.3
p.L17L
c.49T>C
NM_182493.3
p.E61*
c.181G>T
NM_182493.3
p.S510P
c.1528T>C
NM_182493.3
p.L627fs
c.1879_1880fs
NM_182493.3
p.K638_P639Splc
c.1915-1G>T
NM_182493.3
p.K638_P639Splc
c.1915-1G>A
NM_182493.3
p.I654V
c.1960A>G