Genename |
Variants |
AAMP(NM_001087,angio-associated, migratory cell protein,434aa) |
g.2:219130802T>C,c.748A>G,p.I250V |
AAMP(NM_001087,angio-associated, migratory cell protein,434aa) |
g.2:219129824C>T,c.1148G>A,p.R383H |
AAMP(NM_001087,angio-associated, migratory cell protein,434aa) |
g.2:219129783G>A,c.1189C>T,p.R397W |
AAMDC(NM_024684,adipogenesis associated, Mth938 domain containing,122aa) |
g.11:77583266G>A,c.274G>A,p.V92M |
AAMDC(NM_024684,adipogenesis associated, Mth938 domain containing,122aa) |
g.11:77580840C>T,c.205C>T,p.R69X |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69870090G>A,c.83C>T,p.S28L |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69771610C>T,c.349G>A,p.G117S |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69769699G>A,c.490C>T,p.R164C |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69746244A>T,c.1339T>A,p.S447T |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69746142C>G,c.1441G>C,p.A481P |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69741854T>G,c.1525A>C,p.K509Q |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69741754_69741756del,c.1623_1625del,p.541_542del |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69736561A>G,c.1808T>C,p.V603A |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69734636G>A,c.2081C>T,p.T694M |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69723185A>G,c.2297T>C,p.V766A |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69723170G>C,c.2312C>G,p.P771R |
AAK1(NM_014911,AP2 associated kinase 1,961aa) |
g.2:69708033C>T,c.2528G>A,p.R843H |
AAGAB(NM_001271886,alpha- and gamma-adaptin binding protein,206aa) |
g.15:67528778A>T,c.2T>A,p.M1K |
AAGAB(NM_001271886,alpha- and gamma-adaptin binding protein,206aa) |
g.15:67528764C>T,c.16G>A,p.D6N |
AAGAB(NM_001271886,alpha- and gamma-adaptin binding protein,206aa) |
g.15:67528374T>G,c.67A>C,p.I23L |
AAGAB(NM_001271886,alpha- and gamma-adaptin binding protein,206aa) |
g.15:67528353C>T,c.88G>A,p.V30I |
AAGAB(NM_001271886,alpha- and gamma-adaptin binding protein,206aa) |
g.15:67496480A>G,c.395T>C,p.M132T |
AAED1(NM_153698,AhpC/TSA antioxidant enzyme domain containing 1,226aa) |
g.9:99417553G>A,c.11C>T,p.P4L |
AAED1(NM_153698,AhpC/TSA antioxidant enzyme domain containing 1,226aa) |
g.9:99417000C>T,c.248G>A,p.R83K |
AAED1(NM_153698,AhpC/TSA antioxidant enzyme domain containing 1,226aa) |
g.9:99413954T>G,c.302A>C,p.Y101S |
AAED1(NM_153698,AhpC/TSA antioxidant enzyme domain containing 1,226aa) |
g.9:99408190G>A,c.538C>T,p.L180F |
AADAT(NM_016228,aminoadipate aminotransferase,425aa) |
g.4:170990375C>T,c.727G>A,p.V243I |
AADAT(NM_016228,aminoadipate aminotransferase,425aa) |
g.4:170987567G>C,c.1025C>G,p.T342S |