Papers
RefSeq ID
Protein change
DNA change
1–12 of 124 variants
NM_177972.3
p.R398_V399delFs
c.1194_1195delAG
NM_177972.3
p.R398fs
c.1192_1193fs
NM_003320.5
p.R49Q
c.146G>A
NM_177972.3
p.Q49*
c.145C>T
NM_177972.3
p.R57Q
c.170G>A
NM_177972.3
p.K308R
c.923A>G
NM_177972.3
p.S356T
c.1066T>A
NM_177972.3
p.R402H
c.1205G>A
NM_177972.3
p.N405S
c.1214A>G
NM_177972.3
p.R413C
c.1237C>T
NM_177972.3
p.P463Splc
c.1387+1G>A
NM_003320.5
p.I20F
c.58A>T