Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_016147.3
p.S2W
c.5C>G
NM_016147.3
p.E5Q
c.13G>C
NM_016147.3
p.R12C
c.34C>T
NM_016147.3
p.M33R
c.98T>G
NM_016147.3
p.S52Y
c.155C>A
NM_016147.3
p.S72C
c.214A>T
NM_016147.3
p.S72N
c.215G>A
NM_016147.3
p.G86delFs
c.257delG
NM_016147.3
p.S127A
c.379T>G
NM_016147.3
p.K133Splc
c.399-1G>A
NM_016147.3
p.I212V
c.634A>G
NM_016147.3
p.R222Q
c.665G>A