Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
NM_001023.4
p.K49insFs
c.147dupA
NM_001023.4
p.V54L
c.160G>C
NM_001023.4
p.K59_T60Splc
c.177+1G>A
NM_001023.4
p.E33V
c.98A>T
NM_001023.4
p.V50fs
c.148_149fs
NM_001023.4
p.K8R
c.23A>G
NM_001023.4
p.L61fs
c.181_182fs
NM_001023.4
p.I84S
c.251T>G
NM_001023.4
p.I84N
c.251T>A
NM_001023.4
p.L61delFs
c.181_182delAA
NM_001023.4
p.V35Splc
c.104-1G>A
NM_001023.4
p.C36*
c.108T>A