| 基因名 | 突变 |
|---|---|
| MFSD10(NM_001120,major facilitator superfamily domain containing 10,455aa) | g.4:2933591G>A,c.875C>T,p.T292M |
| MFSD10(NM_001120,major facilitator superfamily domain containing 10,455aa) | g.4:2933567C>T,c.899G>A,p.R300H |
| MFSD10(NM_001120,major facilitator superfamily domain containing 10,455aa) | g.4:2933343G>A,c.962C>T,p.T321I |
| MFSD10(NM_001120,major facilitator superfamily domain containing 10,455aa) | g.4:2933284G>A,c.1021C>T,p.R341W |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119216504C>T,c.406G>A,p.V136M |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119216275G>C,c.496C>G,p.P166A |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119216260C>T,c.511G>A,p.V171M |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119216142C>A,c.629G>T,p.G210V |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119215586C>T,c.770G>A,p.R257H |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119213327C>T,c.1366G>A,p.G456S |
| MFRP(NM_031433,membrane frizzled-related protein,579aa) | g.11:119213319C>A,c.1374G>T,p.L458F |
| MFNG(NM_002405,MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,321aa) | g.22:37875518G>A,c.426C>T,p.D142D |
| MFNG(NM_002405,MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,321aa) | g.22:37872974T>C,c.607A>G,p.I203V |
| MFNG(NM_002405,MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,321aa) | g.22:37868499G>A,c.881C>T,p.P294L |
| MFNG(NM_002405,MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase,321aa) | g.22:37866063G>A,c.904C>T,p.R302C |
| MFN2(NM_014874,mitofusin 2,757aa) | g.1:12069692G>A,c.2113G>A,p.V705I |
| MFN2(NM_014874,mitofusin 2,757aa) | g.1:12067224C>T,c.1987C>T,p.R663C |
| MFN2(NM_014874,mitofusin 2,757aa) | g.1:12065801G>A,c.1529G>A,p.R510Q |
| MFN2(NM_014874,mitofusin 2,757aa) | g.1:12064892G>A,c.1403G>A,p.R468H |
| MFN2(NM_014874,mitofusin 2,757aa) | g.1:12061533G>A,c.892G>A,p.G298R |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179107814C>T,c.2035C>T,p.R679C |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179104398T>G,c.1993T>G,p.C665G |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179096508C>G,c.1568C>G,p.P523R |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179096187A>T,c.1388A>T,p.D463V |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179095227A>G,c.1320A>G,p.I440M |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179082937G>A,c.677G>A,p.R226Q |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179069717A>C,c.142A>C,p.I48L |
| MFN1(NM_033540,mitofusin 1,741aa) | g.3:179066700A>G,c.61A>G,p.I21V |