| Genename | Variants |
|---|---|
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53671005G>A,c.2079G>A,p.M693I |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53670545C>A,c.1842C>A,p.S614R |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53663433G>C,c.707G>C,p.R236T |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53663073C>T,c.347C>T,p.A116V |
| ESPL1(NM_012291,extra spindle pole bodies homolog 1 (S. cerevisiae),2120aa) | g.12:53662624C>A,c.74C>A,p.A25D |
| ESM1(NM_007036,endothelial cell-specific molecule 1,184aa) | g.5:54281318G>A,c.28C>T,p.L10F |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13763693C>T,c.94G>A,p.V32I |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13763534C>T,c.253G>A,p.D85N |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13763282T>C,c.505A>G,p.K169E |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13763243C>T,c.544G>A,p.E182K |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13756539C>A,c.1015G>T,p.D339Y |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13747441A>G,c.1649T>C,p.I550T |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13747440T>C,c.1650A>G,p.I550M |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13740448_13740450del,c.1717_1719del,p.573del |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13695762T>C,c.2315A>G,p.N772S |
| ESF1(NM_016649,ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae),851aa) | g.20:13695607T>G,c.2470A>C,p.I824L |
| ESD(NM_001984,esterase D,282aa) | g.13:47354101C>T,c.569G>A,p.G190E |
| ESD(NM_001984,esterase D,282aa) | g.13:47351760T>A,c.601-2A>T,p.201Acceptor |
| ESD(NM_001984,esterase D,282aa) | g.13:47351667T>C,c.692A>G,p.D231G |
| ESD(NM_001984,esterase D,282aa) | g.13:47345630C>T,c.770G>A,p.G257D |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27657082A>G,c.1522A>G,p.I508V |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27645516C>G,c.1128C>G,p.I376M |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27645500C>A,c.1112C>A,p.T371K |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27645493A>G,c.1105A>G,p.K369E |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27645419A>C,c.1031A>C,p.Q344P |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27637758A>T,c.929A>T,p.E310V |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27634589T>C,c.764T>C,p.F255S |
| ESCO2(NM_001017420,establishment of sister chromatid cohesion N-acetyltransferase 2,601aa) | g.8:27634577del,c.752del,p.251fs |