Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_001378100.1
p.P124L
c.371C>T
NM_001378100.1
p.Q7delFs
c.19delC
NM_001378100.1
p.G22S
c.64G>A
NM_001378100.1
p.E44K
c.130G>A
NM_001378100.1
p.S61Splc
c.181+43975G>A
NM_001378100.1
p.A66T
c.196G>A
NM_001378100.1
p.I71I
c.213C>T
NM_001378100.1
p.R99S
c.295C>A
NM_001378100.1
p.S119L
c.356C>T
NM_001378100.1
p.L168I
c.502C>A
NM_001378100.1
p.P170L
c.509C>T
NM_001378100.1
p.S175S
c.525C>A