Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_020439.3
p.V329I
c.985G>A
NM_020439.3
p.Y216*
c.648C>A
NM_020439.3
p.Y216*
c.648C>G
NM_020439.3
p.E259Q
c.775G>C
NM_020439.3
p.P327L
c.980C>T
NM_020439.3
p.Q341E
c.1021C>G
NM_020439.3
p.R43K
c.128G>A
NM_020439.3
p.S57L
c.170C>T
NM_020439.3
p.E66K
c.196G>A
NM_020439.3
p.E84G
c.251A>G
NM_020439.3
p.T90delFs
c.269_270delCC
NM_020439.3
p.R112W
c.334C>T