Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_176814.5
p.P103S
c.307C>T
NM_176814.5
p.I318V
c.952A>G
NM_176814.5
p.S645T
c.1933T>A
NM_176814.5
p.P2A
c.4C>G
NM_176814.5
p.P20fs
c.58_59fs
NM_176814.5
p.P20_V21delFs
c.60_61delCT
NM_176814.5
p.T38I
c.113C>T
NM_176814.5
p.I47S
c.140T>G
NM_176814.5
p.I60I
c.180T>A
NM_176814.5
p.I60_L61del2
c.178_182del6
NM_176814.5
p.P93S
c.277C>T
NM_176814.5
p.N101Splc
c.301+3A>G