Papers
RefSeq ID
Protein change
DNA change
1–12 of 232 variants
NM_017777.4
p.D286G
c.857A>G
NM_017777.4
p.E3_E12delFs
c.7_35del29
NM_017777.4
p.E139E
c.417G>A
NM_017777.4
p.C492W
c.1476T>G
NM_017777.4
p.R534Q
c.1601G>A
NM_017777.4
p.R158*
c.472C>T
NM_017777.4
p.M172Splc
c.515+1G>A
NM_017777.4
p.S372del1
c.1114_1115delGGA
NM_017777.4
p.I450T
c.1349T>C
NM_017777.4
p.T483_G484insFs
c.1448_1451dup4
NM_017777.4
p.V320I
c.958G>A
NM_017777.4
p.V320I
c.958G>A