Papers
RefSeq ID
Protein change
DNA change
1–12 of 249 variants
NM_001379150.1
p.K592fs
c.1774_1775fs
NM_001379150.1
p.A20del1
c.58_59delCGC
NM_001379150.1
p.H879D
c.2635C>G
NM_001379150.1
p.G591insFs
c.1772dupG
NM_001379150.1
p.A25del1
c.73_74delAGC
NM_001379150.1
p.S185*
c.554C>A
NM_001379150.1
p.G215*
c.643G>T
NM_001379150.1
p.R530fs
c.1588_1589fs
NM_001379150.1
p.L34F
c.100C>T
NM_001379150.1
p.R63_D65del3
c.187_194del9
NM_001379150.1
p.R411G
c.1231C>G
NM_001379150.1
p.F433insFs
c.1299dupT