| Genename | Variants |
|---|---|
| DQX1(NM_133637,DEAQ box RNA-dependent ATPase 1,717aa) | g.2:74752226C>T,c.341G>A,p.R114Q |
| DQX1(NM_133637,DEAQ box RNA-dependent ATPase 1,717aa) | g.2:74750341T>G,c.1049A>C,p.Y350S |
| DQX1(NM_133637,DEAQ box RNA-dependent ATPase 1,717aa) | g.2:74750039A>G,c.1247T>C,p.L416P |
| DQX1(NM_133637,DEAQ box RNA-dependent ATPase 1,717aa) | g.2:74747143C>T,c.1514G>A,p.R505H |
| DQX1(NM_133637,DEAQ box RNA-dependent ATPase 1,717aa) | g.2:74746771A>G,c.1718T>C,p.I573T |
| DQX1(NM_133637,DEAQ box RNA-dependent ATPase 1,717aa) | g.2:74745678C>G,c.2049G>C,p.E683D |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105479132C>T,c.17G>A,p.R6Q |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105479130G>C,c.19C>G,p.L7V |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105459614G>A,c.541C>T,p.R181W |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105441840G>T,c.883C>A,p.H295N |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105441818C>T,c.905G>A,p.R302Q |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105440273T>C,c.1027A>G,p.T343A |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105405088G>A,c.1367C>T,p.T456M |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105405062G>A,c.1393C>T,p.R465X |
| DPYS(NM_001385,dihydropyrimidinase,519aa) | g.8:105393518G>A,c.1468C>T,p.R490C |
| DPYSL5(NM_020134,dihydropyrimidinase-like 5,564aa) | g.2:27167617G>A,c.1534G>A,p.A512T |
| DPYSL5(NM_020134,dihydropyrimidinase-like 5,564aa) | g.2:27164908A>G,c.1180A>G,p.I394V |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134017362G>A,c.1558G>A,p.A520T |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134017350G>A,c.1546G>A,p.A516T |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134014449A>G,c.1072A>G,p.I358V |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134013997C>T,c.949C>T,p.L317F |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134013974C>A,c.926C>A,p.P309Q |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134013904G>A,c.856G>A,p.D286N |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134012448G>A,c.784G>A,p.D262N |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134008423G>A,c.388G>A,p.A130T |
| DPYSL4(NM_006426,dihydropyrimidinase-like 4,572aa) | g.10:134008357G>A,c.322G>A,p.V108I |
| DPYSL3(NM_001197294,dihydropyrimidinase-like 3,684aa) | g.5:146889165G>A,c.257C>T,p.P86L |
| DPYSL3(NM_001197294,dihydropyrimidinase-like 3,684aa) | g.5:146889115G>C,c.307C>G,p.P103A |