Papers
RefSeq ID
Protein change
DNA change
1–12 of 119 variants
NM_002812.5
p.M1V
c.1A>G
NM_002812.5
p.R13*
c.37C>T
NM_002812.5
p.P80L
c.239C>T
NM_002812.5
p.R158H
c.473G>A
NM_002812.5
p.S240N
c.719G>A
NM_002812.5
p.K304E
c.910A>G
NM_002812.5
p.M1insFs
c.1_2dupAT
NM_002812.5
p.M1L
c.1A>C
NM_002812.5
p.M1L
c.1A>T
NM_002812.5
p.M1insFs
c.3dupG
NM_002812.5
p.M1_I3delFs
c.3_7del5
NM_002812.5
p.F2L
c.4T>C