| Genename | Variants |
|---|---|
| AK4(NM_001005353,adenylate kinase 4,223aa) | g.1:65656489G>A,c.242G>A,p.R81H |
| AK4(NM_001005353,adenylate kinase 4,223aa) | g.1:65614154T>A,c.64T>A,p.C22S |
| AK3(NM_016282,adenylate kinase 3,227aa) | g.9:4740939G>A,c.149C>T,p.T50I |
| AK3(NM_016282,adenylate kinase 3,227aa) | g.9:4722574T>A,c.203A>T,p.D68V |
| AK3(NM_016282,adenylate kinase 3,227aa) | g.9:4719182C>A,c.397G>T,p.A133S |
| AK3(NM_016282,adenylate kinase 3,227aa) | g.9:4719161T>A,c.418A>T,p.I140F |
| AK2(NM_013411,adenylate kinase 2,232aa) | g.1:33502381G>C,c.49C>G,p.R17G |
| AK2(NM_013411,adenylate kinase 2,232aa) | g.1:33490074del,c.188del,p.63fs |
| AK2(NM_013411,adenylate kinase 2,232aa) | g.1:33487007C>T,c.386G>A,p.S129N |
| AK2(NM_013411,adenylate kinase 2,232aa) | g.1:33478959C>G,c.543G>C,p.K181N |
| AK2(NM_013411,adenylate kinase 2,232aa) | g.1:33478931G>C,c.571C>G,p.H191D |
| AK2(NM_013411,adenylate kinase 2,232aa) | g.1:33478877C>T,c.625G>A,p.A209T |
| AK1(NM_000476,adenylate kinase 1,194aa) | g.9:130635091C>T,c.85G>A,p.V29M |
| AK1(NM_000476,adenylate kinase 1,194aa) | g.9:130635003G>A,c.173C>T,p.S58L |
| AK1(NM_000476,adenylate kinase 1,194aa) | g.9:130630749C>G,c.367G>C,p.E123Q |
| AK1(NM_000476,adenylate kinase 1,194aa) | g.9:130630707C>T,c.409G>A,p.G137R |
| AK1(NM_000476,adenylate kinase 1,194aa) | g.9:130630632C>T,c.484G>A,p.A162T |
| AJUBA(NM_032876,ajuba LIM protein,538aa) | g.14:23451345G>A,c.131C>T,p.P44L |
| AJUBA(NM_032876,ajuba LIM protein,538aa) | g.14:23450548C>G,c.928G>C,p.E310Q |
| AJUBA(NM_032876,ajuba LIM protein,538aa) | g.14:23443320C>G,c.1427G>C,p.C476S |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4832569A>C,c.1147A>C,p.T383P |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4832552C>T,c.1130C>T,p.T377M |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4832548A>T,c.1126A>T,p.T376S |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4832521G>A,c.1099G>A,p.V367M |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4829963A>G,c.880A>G,p.I294V |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4772717G>A,c.787G>A,p.G263R |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4772693C>A,c.763C>A,p.P255T |
| AJAP1(NM_018836,adherens junctions associated protein 1,411aa) | g.1:4772567A>G,c.637A>G,p.K213E |