Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_002823.5
p.A4G
c.11C>G
NM_002823.5
p.E22delFs
c.66delA
NM_002823.5
p.V23delFs
c.67delG
NM_002823.5
p.N29D
c.85A>G
NM_002823.5
p.N29Y
c.85A>T
NM_002823.5
p.A39V
c.116C>T
NM_002823.5
p.A39_N40Splc
c.117+1G>A
NM_002823.5
p.A39_N40Splc
c.117+1G>C
NM_002823.5
p.A39_N40Splc
c.117+2T>A
NM_002823.5
p.N43T
c.128A>C
NM_002823.5
p.N43S
c.128A>G
NM_002823.5
p.G44A
c.131G>C