Papers
RefSeq ID
Protein change
DNA change
1–12 of 99 variants
NM_147196.3
p.R84W
c.250C>T
NM_147196.3
p.R81C
c.241C>T
NM_147196.3
p.K131del1
c.391_393delAAG
NM_147196.3
p.E31G
c.92A>G
NM_147196.3
p.R92W
c.274C>T
NM_147196.3
p.P41delFs
c.123delG
NM_147196.3
p.P42insFs
c.125_126ins4
NM_147196.3
p.E31_P32Splc
c.93+1G>A
NM_147196.3
p.W57*
c.170G>A
NM_147196.3
p.W57*
c.171G>A
NM_147196.3
p.R86Q
c.257G>A
NM_147196.3
p.I71Splc
c.212-2A>C