Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_025165.3
p.P238L
c.713C>T
NM_025165.3
p.R217C
c.649C>T
NM_025165.3
p.M1I
c.3G>A
NM_025165.3
p.L8L
c.24G>A
NM_025165.3
p.G10G
c.30A>C
NM_025165.3
p.Q11*
c.31C>T
NM_025165.3
p.R35P
c.104G>C
NM_025165.3
p.E39Q
c.115G>C
NM_025165.3
p.Q44_V45Splc
c.133-43G>A
NM_025165.3
p.Q44_V45Splc
c.133-22C>T
NM_025165.3
p.A50T
c.148G>A
NM_025165.3
p.G56_Y57Splc
c.168+6T>G