Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_016173.5
p.A188S
c.562G>T
NM_016173.5
p.V51delFs
c.151delG
NM_016173.5
p.V51fs
c.151_152fs
NM_016173.5
p.V51V
c.153C>A
NM_016173.5
p.E53Q
c.157G>C
NM_016173.5
p.P133P
c.399T>G
NM_016173.5
p.V148V
c.444G>A
NM_016173.5
p.L164L
c.490C>T
NM_016173.5
p.L198V
c.592C>G
NM_016173.5
p.H200Q
c.600T>G
NM_016173.5
p.R205Splc
c.615-92C>A
NM_016173.5
p.S257R
c.769A>C