Papers
RefSeq ID
Protein change
DNA change
1–12 of 243 variants
NM_001244189.2
p.R143delFs
c.428delG
NM_001244189.2
p.R143fs
c.427_428fs
NM_001329943.3
p.R131delFs
c.392delG
NM_001329943.3
p.V143delFs
c.428delT
NM_001244189.2
p.R471Splc
c.1413-1G>C
NM_001244189.2
p.G805Splc
c.2414-1G>C
NM_001244189.2
p.K25delFs
c.74delA
NM_001244189.2
p.H44insFs
c.130dupC
NM_001244189.2
p.Q605Q
c.1815G>A
NM_001329943.3
p.M1T
c.2T>C
NM_001329943.3
p.K13delFs
c.38delA
NM_001244189.2
p.H44fs
c.130_131fs