Papers
RefSeq ID
Protein change
DNA change
1–12 of 222 variants
NM_020719.3
p.R867H
c.2600G>A
NM_020719.3
p.P301_P303insFs
c.903_909dup7
NM_020719.3
p.P304fs
c.910_911fs
NM_020719.3
p.E640*
c.1918G>T
NM_020719.3
p.L1501_P1502delFs
c.4502_4505del4
NM_020719.3
p.L1501fs
c.4501_4502fs
NM_020719.3
p.R734Q
c.2201G>A
NM_020719.3
p.A785_G787delFs
c.2353_2360del8
NM_020719.3
p.R1169W
c.3505C>T
NM_020719.3
p.R1320*
c.3958C>T
NM_020719.3
p.D1875fs
c.5623_5624fs
NM_020719.3
p.L1970P
c.5909T>C