Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_006432.5
p.E20*
c.58G>T
NM_006432.5
p.I147_V148Splc
c.441+1G>A
NM_006432.5
p.V30M
c.88G>A
NM_006432.5
p.P120S
c.358C>T
NM_006432.5
p.C47F
c.140G>T
NM_006432.5
p.S67P
c.199T>C
NM_006432.5
p.N64Splc
c.190+5G>A
NM_006432.5
p.G28Splc
c.82+2T>C
NM_006432.5
p.V39M
c.115G>A
NM_006432.5
p.E118*
c.352G>T
NM_006432.5
p.C93F
c.278G>T
NM_006432.5
p.C47*
c.141C>A