Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_152719.3
p.Q52_R53Splc
c.157-8T>C
Surrounding Variants
NM_152719.3
p.P60P
c.180G>A
NM_152719.3
p.S67C
c.199A>T
NM_152719.3
p.C71*
c.213C>A
NM_152719.3
p.A72T
c.214G>A
NM_152719.3
p.A72V
c.215C>T
NM_152719.3
p.A75T
c.223G>A
NM_001286342.2
p.R46H
c.137G>A
NM_152719.3
p.R82H
c.245G>A
NM_152719.3
p.A110delFs
c.329_330delCC
NM_001286342.2
p.P83T
c.247C>A
NM_152719.3
p.P119T
c.355C>A
NM_152719.3
p.R120W
c.358C>T
NM_152719.3
p.W135*
c.405G>A
NM_152719.3
p.N137Y
c.409A>T