Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_014168.4
p.R115delFs
c.344_345delTC
NM_014168.4
p.R115fs
c.343_344fs
NM_014168.4
p.K191delFs
c.571_572delTT
NM_014168.4
p.K191fs
c.571_572fs
NM_014168.4
p.G61D
c.182G>A
NM_014168.4
p.D121G
c.362A>G
NM_014168.4
p.G75Splc
c.224+5G>A
NM_014168.4
p.D85H
c.253G>C
NM_014168.4
p.A37fs
c.109_110fs
NM_014168.4
p.D48E
c.144T>A
NM_014168.4
p.G75Splc
c.224+1G>A
NM_014168.4
p.G75delFs
c.223_224delCC