| Genename | Variants |
|---|---|
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2751307C>G,c.4197C>G,p.D1399E |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2750449G>A,c.4109G>A,p.R1370H |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2747586G>T,c.3868G>T,p.D1290Y |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2739448T>A,c.3444T>A,p.P1148P |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2732423T>C,c.3209T>C,p.I1070T |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2724950G>A,c.2657G>A,p.R886Q |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2724930A>T,c.2637A>T,p.K879N |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2707619G>A,c.2122G>A,p.V708I |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2666917A>G,c.311A>G,p.N104S |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2666885T>G,c.279T>G,p.D93E |
| SMCHD1(NM_015295,structural maintenance of chromosomes flexible hinge domain containing 1,2005aa) | g.18:2656121C>G,c.47C>G,p.T16S |
| SMC6(NM_001142286,structural maintenance of chromosomes 6,1091aa) | g.2:17902510G>A,c.745C>T,p.R249C |
| SMC6(NM_001142286,structural maintenance of chromosomes 6,1091aa) | g.2:17899363C>T,c.1073G>A,p.R358K |
| SMC6(NM_001142286,structural maintenance of chromosomes 6,1091aa) | g.2:17897488T>C,c.1390A>G,p.R464G |
| SMC6(NM_001142286,structural maintenance of chromosomes 6,1091aa) | g.2:17888556C>A,c.1936G>T,p.A646S |
| SMC6(NM_001142286,structural maintenance of chromosomes 6,1091aa) | g.2:17884530G>A,c.2036C>T,p.T679M |
| SMC6(NM_001142286,structural maintenance of chromosomes 6,1091aa) | g.2:17884495C>T,c.2071G>A,p.A691T |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72967219G>A,c.3278G>A,p.R1093H |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72962556G>A,c.2692G>A,p.E898K |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72959068C>A,c.2406C>A,p.F802L |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72938473T>G,c.2225T>G,p.I742R |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72933774A>G,c.2045A>G,p.H682R |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72914992A>G,c.1340A>G,p.N447S |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72914982C>T,c.1330C>T,p.R444C |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72913053C>T,c.1225C>T,p.R409W |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72912907T>C,c.1079T>C,p.I360T |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72897495A>G,c.977A>G,p.E326G |
| SMC5(NM_015110,structural maintenance of chromosomes 5,1101aa) | g.9:72897440T>C,c.922T>C,p.C308R |