Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_001037225.3
p.R53H
c.158G>A
NM_001037225.3
p.G117Splc
c.349+1G>T
NM_001037225.3
p.R53C
c.157C>T
NM_001037225.3
p.K26E
c.76A>G
NM_001037225.3
p.K31N
c.93G>T
NM_001037225.3
p.K31N
c.93G>C
NM_001037225.3
p.G35insFs
c.103dupG
NM_001037225.3
p.E36_I38delFs
c.108_112del5
NM_001037225.3
p.T45_Q46delFs
c.135_136delGG
NM_001037225.3
p.V54M
c.160G>A
NM_001037225.3
p.Y75_E80insFs
c.224_240dup17
NM_001037225.3
p.H84Y
c.250C>T