Genename |
Variants |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49964111T>C,c.532T>C,p.S178P |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49963015G>A,c.409G>A,p.G137R |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49963010G>A,c.404G>A,p.R135Q |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49963001G>A,c.395G>A,p.R132Q |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49962986C>G,c.380C>G,p.T127S |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49962934G>A,c.328G>A,p.E110K |
ALDH16A1(NM_153329,aldehyde dehydrogenase 16 family, member A1,802aa) |
g.19:49956613C>A,c.25C>A,p.R9S |
ALCAM(NM_001627,activated leukocyte cell adhesion molecule,583aa) |
g.3:105264176G>T,c.1101G>T,p.M367I |
ALCAM(NM_001627,activated leukocyte cell adhesion molecule,583aa) |
g.3:105264155G>T,c.1080G>T,p.R360S |
ALCAM(NM_001627,activated leukocyte cell adhesion molecule,583aa) |
g.3:105260522G>C,c.904G>C,p.D302H |
ALCAM(NM_001627,activated leukocyte cell adhesion molecule,583aa) |
g.3:105260520C>T,c.902C>T,p.T301M |
ALCAM(NM_001627,activated leukocyte cell adhesion molecule,583aa) |
g.3:105258861A>G,c.773A>G,p.N258S |
ALCAM(NM_001627,activated leukocyte cell adhesion molecule,583aa) |
g.3:105253645G>A,c.686G>A,p.G229D |
ALB(NM_000477,albumin,609aa) |
g.4:74285973_74285974insA,c.1788_1789insA,p.596fs |
ALB(NM_000477,albumin,609aa) |
g.4:74285297G>A,c.1726G>A,p.A576T |
ALB(NM_000477,albumin,609aa) |
g.4:74283949G>A,c.1573G>A,p.E525K |
ALB(NM_000477,albumin,609aa) |
g.4:74282072T>C,c.1289+2T>C,p.430Donor |
ALB(NM_000477,albumin,609aa) |
g.4:74282070C>T,c.1289C>T,p.A430V |
ALB(NM_000477,albumin,609aa) |
g.4:74279263G>C,c.970G>C,p.A324P |
ALB(NM_000477,albumin,609aa) |
g.4:74279206A>C,c.913A>C,p.K305Q |
ALB(NM_000477,albumin,609aa) |
g.4:74277789A>G,c.790A>G,p.K264E |
ALB(NM_000477,albumin,609aa) |
g.4:74272456C>T,c.248C>T,p.A83V |
ALAS2(NM_000032,aminolevulinate, delta-, synthase 2,587aa) |
g.X:55051258G>A,c.197C>T,p.A66V |
ALAS2(NM_000032,aminolevulinate, delta-, synthase 2,587aa) |
g.X:55046923C>T,c.653G>A,p.R218H |
ALAS2(NM_000032,aminolevulinate, delta-, synthase 2,587aa) |
g.X:55042158C>T,c.1021G>A,p.E341K |
ALAS2(NM_000032,aminolevulinate, delta-, synthase 2,587aa) |
g.X:55040072C>G,c.1447G>C,p.A483P |
ALAS2(NM_000032,aminolevulinate, delta-, synthase 2,587aa) |
g.X:55039960G>A,c.1559C>T,p.P520L |
ALAS2(NM_000032,aminolevulinate, delta-, synthase 2,587aa) |
g.X:55035701C>T,c.1676G>A,p.R559H |