Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_022832.4
p.C44S
c.130T>A
NM_022832.4
p.C44S
c.131G>C
NM_022832.4
p.A133V
c.398C>T
NM_022832.4
p.C10Y
c.29G>A
NM_022832.4
p.M12I
c.36G>A
NM_022832.4
p.M12_G13Splc
c.36+2856C>T
NM_022832.4
p.A16A
c.48C>A
NM_022832.4
p.G36A
c.107G>C
NM_022832.4
p.P58Q
c.173C>A
NM_022832.4
p.R60W
c.178C>T
NM_022832.4
p.Y66*
c.198C>G
NM_022832.4
p.Y66*
c.198C>A