Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_005380.8
p.E175D
c.525G>C
NM_005380.8
p.V95insFs
c.283_284insGT
NM_005380.8
p.D140N
c.418G>A
NM_005380.8
p.D140A
c.419A>C
NM_005380.8
p.E166*
c.496G>T
NM_005380.8
p.M2L
c.4A>C
NM_005380.8
p.M2I
c.6G>A
NM_005380.8
p.L11I
c.31C>A
NM_005380.8
p.M14I
c.42G>A
NM_005380.8
p.L27P
c.80T>C
NM_005380.8
p.A33D
c.98C>A
NM_005380.8
p.A37D
c.110C>A