Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_001336.4
p.M1T
c.2T>C
NM_001336.4
p.G30insFs
c.89_90insG
NM_001336.4
p.W8delFs
c.23delC
NM_001336.4
p.L11_L12insFs
c.33_34ins4
NM_001336.4
p.R35delFs
c.103delG
NM_001336.4
p.S48Splc
c.144-1G>C
NM_001336.4
p.A102V
c.305C>T
NM_001336.4
p.D103Splc
c.307+5G>A
NM_001336.4
p.V120M
c.358G>A
NM_001336.4
p.D125_C126insFs
c.375_376insGA
NM_001336.4
p.E163Splc
c.487+1G>A
NM_001336.4
p.L196P
c.587T>C