Papers
RefSeq ID
Protein change
DNA change
1–12 of 405 variants
NM_014611.3
p.A4044S
c.12130G>T
NM_014611.3
p.I660V
c.1978A>G
NM_014611.3
p.Y1242C
c.3725A>G
NM_014611.3
p.K1989fs
c.5965_5966fs
NM_014611.3
p.H2043Y
c.6127C>T
NM_014611.3
p.H3423Y
c.10267C>T
NM_014611.3
p.F163L
c.487T>C
NM_014611.3
p.F163L
c.489C>G
NM_014611.3
p.F163L
c.489C>A
NM_014611.3
p.F440V
c.1318T>G
NM_014611.3
p.E575_A576Splc
c.1725+1G>A
NM_014611.3
p.P655L
c.1964C>T