| Genename | Variants |
|---|---|
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99120972G>A,c.3478G>A,p.E1160K |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99119209T>C,c.3347T>C,p.L1116P |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99109320C>A,c.3074C>A,p.A1025D |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99109224A>G,c.2978A>G,p.N993S |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99100279C>T,c.2612C>T,p.S871L |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99093226A>C,c.2345A>C,p.N782T |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99093210G>A,c.2329G>A,p.E777K |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99071283A>C,c.1874A>C,p.E625A |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99060123C>G,c.1350C>G,p.C450W |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99060073C>T,c.1300C>T,p.R434C |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99059470T>G,c.1095T>G,p.D365E |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99056566A>G,c.937A>G,p.I313V |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99042271A>G,c.134A>G,p.N45S |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99042208A>G,c.71A>G,p.Y24C |
| APAF1(NM_181861,apoptotic peptidase activating factor 1,1248aa) | g.12:99042175G>A,c.38G>A,p.R13K |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830966C>T,c.2374C>T,p.R792C |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830822G>A,c.2230G>A,p.A744T |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830813G>A,c.2221G>A,p.E741K |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830463G>A,c.2098G>A,p.V700M |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830418C>T,c.2053C>T,p.R685C |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830329C>T,c.1964C>T,p.S655L |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4830181G>A,c.1897G>A,p.V633M |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4827903A>C,c.1573A>C,p.K525Q |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4827898G>A,c.1568G>A,p.R523H |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4827897C>T,c.1567C>T,p.R523C |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4827859G>A,c.1529G>A,p.R510Q |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4827858C>T,c.1528C>T,p.R510W |
| AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) | g.7:4827793C>T,c.1463C>T,p.P488L |