Papers
RefSeq ID
Protein change
DNA change
1–12 of 135 variants
NM_138995.5
p.R185H
c.554G>A
NM_138995.5
p.E337K
c.1009G>A
NM_138995.5
p.V770I
c.2308G>A
NM_138995.5
p.G34D
c.101G>A
NM_138995.5
p.N80D
c.238A>G
NM_138995.5
p.G139R
c.415G>C
NM_138995.5
p.R185C
c.553C>T
NM_138995.5
p.D417N
c.1249G>A
NM_138995.5
p.L453M
c.1357T>A
NM_138995.5
p.Q623_Q625del0
c.1869_1874del6
NM_138995.5
p.D678E
c.2034C>A
NM_138995.5
p.D678E
c.2034C>G