| 基因名 | 突变 |
|---|---|
| MIER1(NM_001146110,mesoderm induction early response 1, transcriptional regulator,529aa) | g.1:67423835_67423837del,c.325_327del,p.109del |
| MIDN(NM_177401,midnolin,468aa) | g.19:1250353T>G,c.58T>G,p.C20G |
| MID2(NM_012216,midline 2,735aa) | g.X:107170239G>A,c.2144G>A,p.R715Q |
| MID2(NM_012216,midline 2,735aa) | g.X:107159291C>A,c.1133C>A,p.A378D |
| MID2(NM_012216,midline 2,735aa) | g.X:107097875C>T,c.757C>T,p.R253C |
| MID1(NM_000381,midline 1 (Opitz/BBB syndrome),667aa) | g.X:10423004G>A,c.1561C>T,p.R521C |
| MID1(NM_000381,midline 1 (Opitz/BBB syndrome),667aa) | g.X:10417619G>A,c.1793C>T,p.A598V |
| MID1(NM_000381,midline 1 (Opitz/BBB syndrome),667aa) | g.X:10417412G>A,c.2000C>T,p.P667L |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16973969G>A,c.1384G>A,p.V462I |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16973964G>A,c.1379G>A,p.R460H |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16963070C>T,c.1234C>T,p.R412C |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16961961A>T,c.1046A>T,p.K349M |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16944534G>A,c.839G>A,p.R280H |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16944491del,c.796del,p.266fs |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16921660G>A,c.449G>A,p.R150H |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16885119C>T,c.331C>T,p.P111S |
| MICU3(NM_181723,mitochondrial calcium uptake family, member 3,530aa) | g.8:16885062G>C,c.274G>C,p.G92R |
| MICU2(NM_152726,mitochondrial calcium uptake 2,434aa) | g.13:22178224G>A,c.64C>T,p.L22F |
| MICU2(NM_152726,mitochondrial calcium uptake 2,434aa) | g.13:22084195G>A,c.709C>T,p.R237C |
| MICU2(NM_152726,mitochondrial calcium uptake 2,434aa) | g.13:22069394G>C,c.1106C>G,p.T369S |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31477681A>G,c.1147A>G,p.T383A |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31475056G>A,c.871G>A,p.G291S |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31475002C>T,c.817C>T,p.R273C |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31474943G>A,c.758G>A,p.W253X |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31474930A>G,c.745A>G,p.N249D |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31474898C>G,c.713C>G,p.T238S |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31474882C>T,c.697C>T,p.R233W |
| MICB(NM_005931,MHC class I polypeptide-related sequence B,383aa) | g.6:31474820C>T,c.635C>T,p.T212I |