Papers
RefSeq ID
Protein change
DNA change
1–12 of 63 variants
NM_017645.5
p.K230Q
c.688A>C
NM_017645.5
p.R175T
c.524G>C
NM_017645.5
p.S552T
c.1654T>A
NM_017645.5
p.Q667E
c.1999C>G
NM_017645.5
p.W15*
c.44G>A
NM_017645.5
p.W15*
c.45G>A
NM_017645.5
p.H40Y
c.118C>T
NM_017645.5
p.R51H
c.152G>A
NM_017645.5
p.D66H
c.196G>C
NM_017645.5
p.C77F
c.230G>T
NM_017645.5
p.R90*
c.268C>T
NM_017645.5
p.R90L
c.269G>T