Papers
RefSeq ID
Protein change
DNA change
1–12 of 147 variants
NM_001130080.3
p.S63T
c.187T>A
NM_001130080.3
p.I33S
c.98T>G
NM_001130080.3
p.V41Splc
c.122-1G>A
NM_001130080.3
p.A3P
c.7G>C
NM_001130080.3
p.A31Splc
c.92-1G>C
NM_001130080.3
p.V42_A45del0
c.126_134del9
NM_001130080.3
p.M1V
c.1A>G
NM_001130080.3
p.M1T
c.2T>C
NM_001130080.3
p.A3A
c.9C>G
NM_001130080.3
p.A3A
c.9C>T
NM_001130080.3
p.A5V
c.14C>T
NM_001130080.3
p.A21delFs
c.63delC