Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
NM_001017425.3
p.I267T
c.800T>C
NM_001017425.3
p.E84A
c.251A>C
NM_001017425.3
p.G186C
c.556G>T
NM_001017425.3
p.P3insFs
c.7_8insC
NM_001017425.3
p.S6insFs
c.16dupT
NM_001017425.3
p.R7Q
c.20G>A
NM_001017425.3
p.V16Splc
c.47-7T>C
NM_001017425.3
p.D23Y
c.67G>T
NM_001017425.3
p.K25E
c.73A>G
NM_001017425.3
p.A28T
c.82G>A
NM_001017425.3
p.K32delFs
c.96delA
NM_001017425.3
p.P33S
c.97C>T