Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_138417.3
p.D191E
c.573T>G
NM_138417.3
p.D191E
c.573T>A
NM_138417.3
p.R59H
c.176G>A
NM_138417.3
p.P113_G121del9
c.337_362del27
NM_138417.3
p.H198R
c.593A>G
NM_138417.3
p.A38_L41del0
c.113_121del9
NM_138417.3
p.P2S
c.4C>T
NM_138417.3
p.F6I
c.16T>A
NM_138417.3
p.A38_L41delFs
c.113_122del10
NM_138417.3
p.K85R
c.254A>G
NM_138417.3
p.G111S
c.331G>A
NM_138417.3
p.A115E
c.344C>A