Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001623.5
p.G14R
c.40G>A
NM_001623.5
p.G14R
c.40G>C
NM_001623.5
p.D66Splc
c.197-2A>G
NM_001623.5
p.S2N
c.5G>A
NM_001623.5
p.L7insFs
c.19_20insG
NM_001623.5
p.K17E
c.49A>G
NM_001623.5
p.D66V
c.197A>T
NM_001623.5
p.S69F
c.206C>T
NM_001623.5
p.L77F
c.229C>T
NM_001623.5
p.L84L
c.252A>G
NM_001623.5
p.E92insFs
c.275_276insAA
NM_001623.5
p.E99K
c.295G>A