Papers
RefSeq ID
Protein change
DNA change
1–12 of 148 variants
NM_006096.4
p.R148*
c.442C>T
NM_006096.4
p.G98V
c.293G>T
NM_006096.4
p.K179_I180Splc
c.538-1G>A
NM_006096.4
p.L146P
c.437T>C
NM_006096.4
p.R234Q
c.701G>A
NM_006096.4
p.E21_T22Splc
c.64-6T>C
NM_006096.4
p.Y79*
c.237C>A
NM_006096.4
p.H247delFs
c.739delG
NM_006096.4
p.Y79*
c.237C>G
NM_006096.4
p.Q185*
c.553C>T
NM_006096.4
p.K198_E199Splc
c.595-2A>G
NM_006096.4
p.R241*
c.721C>T