Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_006426.3
p.Q180_M181Splc
c.541-7T>C
Surrounding Variants
NM_006426.3
p.E183*
c.547G>T
NM_006426.3
p.V205fs
c.613_614fs
NM_006426.3
p.D178N
c.532G>A
NM_006426.3
p.P220H
c.659C>A
NM_006426.3
p.E221D
c.663G>C
NM_006426.3
p.E221D
c.663G>T
NM_006426.3
p.E230K
c.688G>A
NM_006426.3
p.V236M
c.706G>A
NM_006426.3
p.V240F
c.718G>T
NM_006426.3
p.K244R
c.731A>G
NM_006426.3
p.P249P
c.747G>A
NM_006426.3
p.V252I
c.754G>A