Papers
RefSeq ID
Protein change
DNA change
1–12 of 268 variants
NM_032520.5
p.N116del1
c.346_347delAAC
NM_032520.5
p.L167insFs
c.499dupC
NM_032520.5
p.A149delFs
c.445delG
NM_032520.5
p.R66*
c.196C>T
NM_032520.5
p.G106S
c.316G>A
NM_032520.5
p.E110*
c.328G>T
NM_032520.5
p.E82_F83insFs
c.244_247dup4
NM_032520.5
p.T286M
c.857C>T
NM_032520.5
p.A25E
c.74C>A
NM_032520.5
p.V176Splc
c.527-10G>A
NM_032520.5
p.L230V
c.688C>G
NM_032520.5
p.T78Splc
c.234-1G>C