| 基因名 | 突变 |
|---|---|
| RFNG(NM_002917,RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,331aa) | g.17:80008394C>T,c.457G>A,p.A153T |
| RFNG(NM_002917,RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,331aa) | g.17:80006957A>C,c.864T>G,p.H288Q |
| RFK(NM_018339,riboflavin kinase,155aa) | g.9:79007336T>C,c.232A>G,p.M78V |
| RFFL(NM_001017368,ring finger and FYVE-like domain containing E3 ubiquitin protein ligase,363aa) | g.17:33348610C>T,c.371G>A,p.R124Q |
| RFFL(NM_001017368,ring finger and FYVE-like domain containing E3 ubiquitin protein ligase,363aa) | g.17:33348541C>T,c.440G>A,p.R147H |
| RFESD(NM_001131065,Rieske (Fe-S) domain containing,210aa) | g.5:94991839C>A,c.459C>A,p.N153K |
| RFESD(NM_001131065,Rieske (Fe-S) domain containing,210aa) | g.5:94989878A>C,c.272A>C,p.D91A |
| RFESD(NM_001131065,Rieske (Fe-S) domain containing,210aa) | g.5:94988022C>T,c.47C>T,p.T16I |
| RFC4(NM_181573,replication factor C (activator 1) 4, 37kDa,363aa) | g.3:186518911C>T,c.205G>A,p.A69T |
| RFC4(NM_181573,replication factor C (activator 1) 4, 37kDa,363aa) | g.3:186512517G>A,c.340C>T,p.R114C |
| RFC4(NM_181573,replication factor C (activator 1) 4, 37kDa,363aa) | g.3:186508026G>A,c.901C>T,p.H301Y |
| RFC4(NM_181573,replication factor C (activator 1) 4, 37kDa,363aa) | g.3:186507969A>G,c.958T>C,p.S320P |
| RFC3(NM_002915,replication factor C (activator 1) 3, 38kDa,356aa) | g.13:34404899A>C,c.617A>C,p.N206T |
| RFC3(NM_002915,replication factor C (activator 1) 3, 38kDa,356aa) | g.13:34392361C>G,c.46C>G,p.L16V |
| RFC2(NM_001278791,replication factor C (activator 1) 2, 40kDa,253aa) | g.7:73653317G>A,c.392C>T,p.A131V |
| RFC2(NM_001278791,replication factor C (activator 1) 2, 40kDa,253aa) | g.7:73646449G>A,c.749C>T,p.P250L |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39353047C>T,c.53G>A,p.S18N |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39328201C>A,c.624G>T,p.Q208H |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39322017G>A,c.1081C>T,p.P361S |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39310505T>C,c.1636A>G,p.T546A |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39310364T>C,c.1777A>G,p.T593A |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39308303G>A,c.1907C>T,p.S636F |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39308301C>T,c.1909G>A,p.G637S |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39306471C>G,c.2076G>C,p.E692D |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39304736G>C,c.2149C>G,p.L717V |
| RFC1(NM_001204747,replication factor C (activator 1) 1, 145kDa,1148aa) | g.4:39301920C>T,c.2653G>A,p.V885I |
| REXO4(NM_020385,REX4, RNA exonuclease 4 homolog (S. cerevisiae),422aa) | g.9:136280025G>A,c.332C>T,p.S111L |
| REXO4(NM_020385,REX4, RNA exonuclease 4 homolog (S. cerevisiae),422aa) | g.9:136279935C>T,c.422G>A,p.R141K |