Papers
RefSeq ID
Protein change
DNA change
1–12 of 156 variants
NM_000460.4
p.R38C
c.112C>T
NM_000460.4
p.E5Splc
c.13+1G>C
NM_000460.4
p.R99W
c.295C>T
NM_000460.4
p.R119C
c.355C>T
NM_000460.4
p.R31*
c.91C>T
NM_000460.4
p.R157*
c.469C>T
NM_000460.4
p.L43F
c.127C>T
NM_000460.4
p.S108L
c.323C>T
NM_000460.4
p.M1T
c.2T>C
NM_000460.4
p.E5Splc
c.13+1G>A
NM_000460.4
p.L188P
c.563T>C
NM_000460.4
p.E204fs
c.610_611fs