Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_013283.5
p.H11Q
c.33C>G
Surrounding Variants
NM_013283.5
p.H11Q
c.33C>A
NM_013283.5
p.R18L
c.53G>T
NM_013283.5
p.E5fs
c.13_14fs
NM_013283.5
p.L39R
c.116T>G
NM_013283.5
p.L40V
c.118C>G
NM_013283.5
p.Q50K
c.148C>A
NM_013283.5
p.G57S
c.169G>A
NM_013283.5
p.G57V
c.170G>T
NM_013283.5
p.Q86_P87Splc
c.259-2A>G
NM_013283.5
p.D141N
c.421G>A
NM_013283.5
p.E149E
c.447G>A
NM_013283.5
p.L164L
c.492A>G