Papers
RefSeq ID
Protein change
DNA change
1–12 of 125 variants
NM_015375.3
p.C641R
c.1921T>C
NM_015375.3
p.Q218_E219Splc
c.654+1G>A
NM_015375.3
p.R739W
c.2215C>T
NM_015375.3
p.R29Q
c.86G>A
NM_015375.3
p.L432V
c.1294C>G
NM_015375.3
p.W8*
c.24G>A
NM_015375.3
p.L64F
c.190C>T
NM_015375.3
p.Q218_E219Splc
c.655-3C>T
NM_015375.3
p.R592Q
c.1775G>A
NM_015375.3
p.R709*
c.2125C>T
NM_015375.3
p.S843L
c.2528C>T
NM_015375.3
p.W8*
c.23G>A