Papers
RefSeq ID
Protein change
DNA change
1–12 of 1057 variants
NM_000478.6
p.E191K
c.571G>A
NM_000478.6
p.L520delFs
c.1559delT
NM_000478.6
p.R136H
c.407G>A
NM_000478.6
p.F327L
c.979T>C
NM_000478.6
p.A116T
c.346G>A
NM_000478.6
p.G334D
c.1001G>A
NM_000478.6
p.F327L
c.981C>G
NM_000478.6
p.Y263H
c.787T>C
NM_000478.6
p.F327L
c.981C>A
NM_000478.6
p.D378V
c.1133A>T
NM_000478.6
p.A176T
c.526G>A
NM_000478.6
p.N417S
c.1250A>G