Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_004040.4
p.S73F
c.218C>T
NM_004040.4
p.E172K
c.514G>A
NM_004040.4
p.D13Y
c.37G>T
NM_004040.4
p.T19R
c.56C>G
NM_004040.4
p.E47K
c.139G>A
NM_004040.4
p.K135E
c.403A>G
NM_004040.4
p.A3G
c.8C>G
NM_004040.4
p.K18E
c.52A>G
NM_004040.4
p.T19K
c.56C>A
NM_004040.4
p.V24insFs
c.71_72insG
NM_004040.4
p.D28H
c.82G>C
NM_004040.4
p.P31S
c.91C>T