Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001319.7
p.L76_E77Splc
c.228+53G>C
Surrounding Variants
NM_001319.7
p.K75R
c.224A>G
NM_001319.7
p.V72E
c.215T>A
NM_001319.7
p.L96fs
c.286_287fs
NM_001319.7
p.G63Splc
c.188-33C>T
NM_001319.7
p.S125R
c.373A>C
NM_001319.7
p.S125R
c.375C>A
NM_001319.7
p.S125R
c.375C>G
NM_001319.7
p.E127D
c.381G>C
NM_001319.7
p.E127D
c.381G>T
NM_001319.7
p.D128A
c.383A>C
NM_001319.7
p.D128E
c.384C>A
NM_001319.7
p.D128E
c.384C>G