Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_033413.4
p.A264V
c.791C>T
NM_033413.4
p.A295T
c.883G>A
NM_033413.4
p.G4insFs
c.10_11insGT
NM_033413.4
p.K5*
c.13A>T
NM_033413.4
p.P10_E11insGT
c.28_32ins6
NM_033413.4
p.E12A
c.35A>C
NM_033413.4
p.H41fs
c.121_122fs
NM_033413.4
p.H41Y
c.121C>T
NM_033413.4
p.I56F
c.166A>T
NM_033413.4
p.Q79*
c.235C>T
NM_033413.4
p.R91Splc
c.272+14G>C
NM_033413.4
p.E104V
c.311A>T