Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001137610.3
p.D248Splc
c.743-5C>T
Surrounding Variants
NM_001137610.3
p.V249M
c.745G>A
NM_001137610.3
p.R270W
c.808C>T
NM_001137610.3
p.R274W
c.820C>T
NM_001137610.3
p.A275P
c.823G>C
NM_001137610.3
p.R285C
c.853C>T
NM_001137610.3
p.R285S
c.853C>A
NM_001137610.3
p.N286H
c.856A>C
NM_001137610.3
p.Q240H
c.720G>T
NM_001137610.3
p.Q240H
c.720G>C
NM_001137610.3
p.M232T
c.695T>C
NM_001137610.3
p.R220G
c.658A>G
NM_001137610.3
p.D217_S218delFs
c.650_653del4