Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
NM_025251.3
p.Q376del1
c.1126_1128delCTG
NM_025251.3
p.F627L
c.1879T>C
NM_025251.3
p.F627L
c.1881C>G
NM_025251.3
p.F627L
c.1881C>A
NM_025251.3
p.P651S
c.1951C>T
NM_025251.3
p.R667Q
c.2000G>A
NM_025251.3
p.Q791fs
c.2371_2372fs
NM_025251.3
p.Y7C
c.20A>G
NM_025251.3
p.R20K
c.59G>A
NM_025251.3
p.G58S
c.172G>A
NM_025251.3
p.D74insFs
c.222dupC
NM_025251.3
p.K105insFs
c.314_315insA