Papers
RefSeq ID
Protein change
DNA change
NM_001099334.3
p.S152G
c.454A>G
NM_001099334.3
p.S152G
c.454A>G
NM_001099334.3
p.C130R
c.388T>C
NM_001099334.3
p.L14Splc
c.42-84G>A
NM_001099334.3
p.E26K
c.76G>A
NM_001099334.3
p.S58*
c.173C>G
NM_001099334.3
p.S58*
c.173C>A
NM_001099334.3
p.E67insFs
c.200dupA
NM_001099334.3
p.R85*
c.253C>T
NM_001099334.3
p.N163fs
c.487_488fs