Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_001165978.3
p.Q508R
c.1523A>G
NM_001165978.3
p.G513S
c.1537G>A
NM_001165978.3
p.P716fs
c.2146_2147fs
NM_001165978.3
p.A357T
c.1069G>A
NM_001165978.3
p.L715_P716insFs
c.2145_2146insA
NM_001165978.3
p.R812C
c.2434C>T
NM_001165978.3
p.L5_A6insG
c.13_17ins3
NM_001165978.3
p.A19T
c.55G>A
NM_001165978.3
p.R53Q
c.158G>A
NM_001165978.3
p.R55C
c.163C>T
NM_001165978.3
p.V67V
c.201G>A
NM_001165978.3
p.V74M
c.220G>A