Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001143764.3
p.Q26*
c.76C>T
Surrounding Variants
NM_001143764.3
p.Q26K
c.76C>A
NM_001143764.3
p.K45_V46delFs
c.135_136delCT
NM_001143764.3
p.V46Splc
c.136+4G>A
NM_001143764.3
p.E50K
c.148G>A
NM_001143764.3
p.R52*
c.154C>T
NM_130784.4
p.E18Q
c.52G>C
NM_001143764.3
p.R59Q
c.176G>A
NM_001143764.3
p.R59_I60insFs
c.177_178insT
NM_001143764.3
p.I60insFs
c.178dupA
NM_001143764.3
p.N61D
c.181A>G
NM_001143764.3
p.A66Splc
c.196+146T>C
NM_001143764.3
p.A66Splc
c.197-2A>G