Papers
RefSeq ID
Protein change
DNA change
1–12 of 103 variants
NM_001741.3
p.L66P
c.197T>C
NM_001741.3
p.A31T
c.91G>A
NM_001741.3
p.P39A
c.115C>G
NM_001741.3
p.R29insFs
c.86_87insC
NM_001741.3
p.R29Splc
c.86+2T>G
NM_001741.3
p.R29Splc
c.87-2A>G
NM_001741.3
p.F6F
c.18C>T
NM_001741.3
p.P8H
c.23C>A
NM_001741.3
p.R48R
c.144C>A
NM_001741.3
p.S76R
c.226A>C
NM_001741.3
p.S76S
c.228C>T
NM_001741.3
p.S76R
c.228C>G