Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_001790.5
p.S216A
c.646T>G
NM_001790.5
p.R70C
c.208C>T
NM_001790.5
p.G297R
c.889G>C
NM_001790.5
p.G297R
c.889G>A
NM_001790.5
p.T367delFs
c.1100delG
NM_001790.5
p.S14N
c.41G>A
NM_001790.5
p.V41I
c.121G>A
NM_001790.5
p.G65Splc
c.194+1G>A
NM_001790.5
p.S78N
c.233G>A
NM_001790.5
p.D234G
c.701A>G
NM_001790.5
p.K244delFs
c.731delT
NM_001790.5
p.G384delins
c.1150_1151delinsCC