Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_003857.4
p.W249L
c.746G>T
NM_003857.4
p.R183G
c.547C>G
NM_003857.4
p.S346R
c.1036A>C
NM_003857.4
p.S346R
c.1038C>A
NM_003857.4
p.S346R
c.1038C>G
NM_003857.4
p.N2K
c.6C>A
NM_003857.4
p.G18A
c.53G>C
NM_003857.4
p.G53C
c.157G>T
NM_003857.4
p.Y86C
c.257A>G
NM_003857.4
p.Y86*
c.258C>A
NM_003857.4
p.F93S
c.278T>C
NM_003857.4
p.R123Splc
c.369-5C>A