Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_016185.4
p.H105Y
c.313C>T
NM_016185.4
p.M1T
c.2T>C
NM_016185.4
p.R19Splc
c.56+617C>T
NM_016185.4
p.L21L
c.63G>A
NM_016185.4
p.L32F
c.96A>T
NM_016185.4
p.M47T
c.140T>C
NM_016185.4
p.G53V
c.158G>T
NM_016185.4
p.T54delFs
c.160_161delGT
NM_016185.4
p.N58D
c.172A>G
NM_016185.4
p.G73S
c.217G>A
NM_016185.4
p.S87A
c.259T>G
NM_016185.4
p.A90G
c.269C>G