Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_020947.4
p.D172E
c.516C>G
NM_020947.4
p.D172E
c.516C>A
NM_020947.4
p.T354M
c.1061C>T
NM_020947.4
p.S443L
c.1328C>T
NM_020947.4
p.G363insFs
c.1089dupG
NM_020947.4
p.Q364fs
c.1090_1091fs
NM_020947.4
p.G2A
c.5G>C
NM_020947.4
p.Q21*
c.61C>T
NM_020947.4
p.Q26*
c.76C>T
NM_020947.4
p.S44T
c.130T>A
NM_020947.4
p.F45S
c.134T>C
NM_020947.4
p.N52K
c.156C>G