| Genename | Variants |
|---|---|
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45792238A>C,c.1242T>G,p.H414Q |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45789642A>C,c.1417T>G,p.F473V |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45785648A>G,c.1675T>C,p.F559L |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45767421C>T,c.2243G>A,p.C748Y |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45767391C>T,c.2273G>A,p.R758Q |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45754664T>G,c.2874A>C,p.E958D |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45749983G>T,c.3148C>A,p.L1050M |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45749966G>C,c.3165C>G,p.F1055L |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45749902T>C,c.3229A>G,p.I1077V |
| SMC1B(NM_148674,structural maintenance of chromosomes 1B,1235aa) | g.22:45740462C>G,c.3683G>C,p.S1228T |
| SMARCE1(NM_003079,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1,411aa) | g.17:38787055C>T,c.938G>A,p.R313H |
| SMARCD3(NM_003078,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3,470aa) | g.7:150972217G>T,c.22C>A,p.P8T |
| SMARCD3(NM_003078,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3,470aa) | g.7:150939667T>C,c.440A>G,p.Y147C |
| SMARCD3(NM_003078,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3,470aa) | g.7:150939617C>T,c.490G>A,p.G164S |
| SMARCD3(NM_003078,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3,470aa) | g.7:150936211G>A,c.1391C>T,p.S464L |
| SMARCD2(NM_001098426,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2,531aa) | g.17:61914317T>A,c.532A>T,p.M178L |
| SMARCD2(NM_001098426,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2,531aa) | g.17:61912875G>A,c.620C>T,p.A207V |
| SMARCD2(NM_001098426,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2,531aa) | g.17:61912842del,c.653del,p.218fs |
| SMARCD1(NM_003076,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1,515aa) | g.12:50483727G>A,c.832G>A,p.V278M |
| SMARCD1(NM_003076,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1,515aa) | g.12:50480102G>T,c.336G>T,p.Q112H |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56580022G>C,c.234C>G,p.I78M |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56574827G>C,c.1015C>G,p.L339V |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56565075G>A,c.2234C>T,p.S745F |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56563987T>A,c.2260A>T,p.S754C |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56563937_56563939del,c.2308_2310del,p.770del |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56559321G>T,c.2920C>A,p.P974T |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56559114G>T,c.3127C>A,p.P1043T |
| SMARCC2(NM_003075,SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2,1214aa) | g.12:56559114G>C,c.3127C>G,p.P1043A |