Papers
RefSeq ID
Protein change
DNA change
1–12 of 185 variants
NM_005634.3
p.V53L
c.157G>T
NM_005634.3
p.V53L
c.157G>C
NM_005634.3
p.R5Q
c.14G>A
NM_005634.3
p.P142T
c.424C>A
NM_005634.3
p.A43T
c.127G>A
NM_005634.3
p.S150Y
c.449C>A
NM_005634.3
p.M1T
c.2T>C
NM_005634.3
p.I26T
c.77T>C
NM_005634.3
p.R154delFs
c.462delC
NM_005634.3
p.A243_A248del6
c.727_743del18
NM_005634.3
p.M1V
c.1A>G
NM_005634.3
p.P29S
c.85C>T