Papers
RefSeq ID
Protein change
DNA change
1–12 of 126 variants
NM_001002800.3
p.N356S
c.1067A>G
NM_001002800.3
p.K854E
c.2560A>G
NM_001002800.3
p.E482K
c.1444G>A
NM_001002800.3
p.R705C
c.2113C>T
NM_001002800.3
p.K855delFs
c.2564delA
NM_001002800.3
p.K855fs
c.2563_2564fs
NM_001002800.3
p.I927delFs
c.2779delA
NM_001002800.3
p.V972A
c.2915T>C
NM_001002800.3
p.S1056L
c.3167C>T
NM_001002800.3
p.R1252*
c.3754C>T
NM_001002800.3
p.P2_R3insFs
c.6_7insT
NM_001002800.3
p.R3H
c.8G>A