Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_014640.5
p.E34Q
c.100G>C
NM_014640.5
p.R418H
c.1253G>A
NM_014640.5
p.T467P
c.1399A>C
NM_014640.5
p.L1126F
c.3376C>T
NM_014640.5
p.A290T
c.868G>A
NM_014640.5
p.R525C
c.1573C>T
NM_014640.5
p.D1005G
c.3014A>G
NM_014640.5
p.N17S
c.50A>G
NM_014640.5
p.E38fs
c.112_113fs
NM_014640.5
p.K58T
c.173A>C
NM_014640.5
p.E61K
c.181G>A
NM_014640.5
p.C88Y
c.263G>A