Papers
RefSeq ID
Protein change
DNA change
NM_001135575.2
p.L33fs
c.97_98fs
NM_001135575.2
p.G6W
c.16G>T
NM_001135575.2
p.L20insFs
c.59_60insT
NM_001135575.2
p.G26Splc
c.76+10368A>C
NM_001135575.2
p.G26Splc
c.76+10399G>T
NM_001135575.2
p.W27*
c.80G>A
NM_001135575.2
p.W27*
c.81G>A
NM_001135575.2
p.L33insFs
c.98dupT
NM_001135575.2
p.L33delFs
c.98delT
NM_001135575.2
p.L35fs
c.103_104fs
NM_001135575.2
p.R42W
c.124C>T
NM_001135575.2
p.S60A
c.178T>G