Papers
RefSeq ID
Protein change
DNA change
1–12 of 312 variants
NM_004416.3
p.W30*
c.89G>A
NM_004416.3
p.W30*
c.90G>A
NM_004416.3
p.Q68H
c.204G>C
NM_004416.3
p.P234L
c.701C>T
NM_004416.3
p.E33D
c.99G>C
NM_004416.3
p.E33D
c.99G>T
NM_004416.3
p.S59F
c.176C>T
NM_004416.3
p.Q68H
c.204G>T
NM_004416.3
p.P71S
c.211C>T
NM_004416.3
p.R440C
c.1318C>T
NM_004416.3
p.E29G
c.86A>G
NM_004416.3
p.F82L
c.244T>C