Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_014306.5
p.A41D
c.122C>A
NM_014306.5
p.E49D
c.147A>T
NM_014306.5
p.E49D
c.147A>C
NM_014306.5
p.Y306F
c.917A>T
NM_014306.5
p.S2R
c.4A>C
NM_014306.5
p.G58Splc
c.172+77A>G
NM_014306.5
p.R81*
c.241C>T
NM_014306.5
p.G84G
c.252G>A
NM_014306.5
p.S90*
c.269C>A
NM_014306.5
p.D119A
c.356A>C
NM_014306.5
p.Q142K
c.424C>A
NM_014306.5
p.S157*
c.470C>A