Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_001938.3
p.E171D
c.513A>C
NM_001938.3
p.E171D
c.513A>T
NM_001938.3
p.R102_K103insFs
c.306_307insT
NM_001938.3
p.R107G
c.319C>G
NM_001938.3
p.K128_A129Splc
c.384+1G>A
NM_001938.3
p.M144I
c.432G>A
NM_001938.3
p.M144I
c.432G>C
NM_001938.3
p.M144I
c.432G>T
NM_001938.3
p.A2_S3insFs
c.6_7insA
NM_001938.3
p.S3delFs
c.8delC
NM_001938.3
p.S4S
c.12G>A
NM_001938.3
p.S4S
c.12G>C