Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_015510.5
p.A88fs
c.262_263fs
NM_015510.5
p.A88delFs
c.263delC
NM_015510.5
p.R7Splc
c.20+11110T>C
NM_015510.5
p.R7Splc
c.21-21900A>C
NM_015510.5
p.F18V
c.52T>G
NM_015510.5
p.S21T
c.61T>A
NM_015510.5
p.L27L
c.79C>T
NM_015510.5
p.Q42*
c.124C>T
NM_015510.5
p.G46W
c.136G>T
NM_015510.5
p.A48S
c.142G>T
NM_015510.5
p.A60T
c.178G>A
NM_015510.5
p.R84Q
c.251G>A