Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_002220.3
p.G9S
c.25G>A
NM_002220.3
p.A16E
c.47C>A
NM_002220.3
p.P92delFs
c.274delC
NM_002220.3
p.P93fs
c.277_278fs
NM_002220.3
p.S145T
c.434G>C
NM_002220.3
p.H166R
c.497A>G
NM_002220.3
p.Y186C
c.557A>G
NM_002220.3
p.G196Splc
c.587-10C>T
NM_002220.3
p.P214Q
c.641C>A
NM_002220.3
p.A233T
c.697G>A
NM_002220.3
p.D241A
c.722A>C
NM_002220.3
p.S244R
c.730A>C