Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_017813.5
p.T183P
c.547A>C
NM_017813.5
p.D177N
c.529G>A
NM_017813.5
p.R187*
c.559C>T
NM_017813.5
p.V158insFs
c.473_474dupTA
NM_017813.5
p.E234*
c.700G>T
NM_017813.5
p.K298insFs
c.893dupA
NM_017813.5
p.L38L
c.114C>G
NM_017813.5
p.G46V
c.137G>T
NM_017813.5
p.A55P
c.163G>C
NM_017813.5
p.M66I
c.198G>T
NM_017813.5
p.M66I
c.198G>C
NM_017813.5
p.M66I
c.198G>A