Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_002720.3
p.D82A
c.245A>C
NM_002720.3
p.R141C
c.421C>T
NM_002720.3
p.M1insFs
c.2dupT
NM_002720.3
p.M1insFs
c.3dupG
NM_002720.3
p.M1I
c.3G>A
NM_002720.3
p.A2Fs
c.4delinsGTFs
NM_002720.3
p.I4M
c.12C>G
NM_002720.3
p.S5C
c.13A>T
NM_002720.3
p.C17insFs
c.50dupG
NM_002720.3
p.I20insFs
c.58_59insTG
NM_002720.3
p.E24K
c.70G>A
NM_002720.3
p.A30T
c.88G>A