Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001143764.3
p.A66Splc
c.197-2A>G
Surrounding Variants
NM_001143764.3
p.K68_K69delFs
c.204_205delTC
NM_001143764.3
p.N71Y
c.211A>T
NM_001143764.3
p.L74L
c.220C>T
NM_001143764.3
p.T79I
c.236C>T
NM_001143764.3
p.G75_I80insFs
c.224_240dup17
NM_001143764.3
p.E82K
c.244G>A
NM_001143764.3
p.L84L
c.250C>T
NM_001143764.3
p.E87K
c.259G>A
NM_130784.4
p.L52L
c.154C>T
NM_001143764.3
p.L91Splc
c.271+1G>T
NM_130784.4
p.L55Splc
c.163+1G>A
NM_001143764.3
p.L91Splc
c.271+1G>A
NM_001143764.3
p.L91Splc
c.271+2T>C