Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_001099409.3
p.V538G
c.1613T>G
NM_001099409.3
p.G1335Splc
c.4004-1G>A
NM_001099409.3
p.R50H
c.149G>A
NM_001099409.3
p.V133L
c.397G>C
NM_001099409.3
p.V133L
c.397G>T
NM_001099409.3
p.R1380Q
c.4139G>A
NM_001099409.3
p.A172T
c.514G>A
NM_001099409.3
p.R307Q
c.920G>A
NM_001099409.3
p.Q342P
c.1025A>C
NM_001099409.3
p.T454I
c.1361C>T
NM_001099409.3
p.A671V
c.2012C>T
NM_001099409.3
p.D1082G
c.3245A>G