Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001378.3
p.R57delFs
c.169delA
NM_001378.3
p.K35delFs
c.105delA
NM_001378.3
p.K33fs
c.97_98fs
NM_001378.3
p.R57fs
c.169_170fs
NM_001378.3
p.A203Splc
c.607+1G>A
NM_001378.3
p.M1T
c.2T>C
NM_001378.3
p.E31*
c.91G>T
NM_001378.3
p.E54fs
c.160_161fs
NM_001378.3
p.R57fs
c.169_170fs
NM_001378.3
p.A62T
c.184G>A
NM_001378.3
p.R112Splc
c.336-4T>C
NM_001378.3
p.Q124R
c.371A>G