| 基因名 | 突变 |
|---|---|
| MFAP2(NM_002403,microfibrillar-associated protein 2,183aa) | g.1:17303630T>G,c.101A>C,p.Q34P |
| MFAP1(NM_005926,microfibrillar-associated protein 1,439aa) | g.15:44109446T>G,c.280A>C,p.S94R |
| MFAP1(NM_005926,microfibrillar-associated protein 1,439aa) | g.15:44107202C>A,c.370G>T,p.A124S |
| MFAP1(NM_005926,microfibrillar-associated protein 1,439aa) | g.15:44107195C>T,c.377G>A,p.R126H |
| MEX3D(NM_203304,mex-3 RNA binding family member D,651aa) | g.19:1556731C>A,c.787G>T,p.A263S |
| MEX3D(NM_203304,mex-3 RNA binding family member D,651aa) | g.19:1556482T>G,c.1036A>C,p.T346P |
| MEX3D(NM_203304,mex-3 RNA binding family member D,651aa) | g.19:1556200C>A,c.1318G>T,p.G440C |
| MEX3C(NM_016626,mex-3 RNA binding family member C,659aa) | g.18:48723155G>T,c.536C>A,p.A179D |
| MEX3C(NM_016626,mex-3 RNA binding family member C,659aa) | g.18:48723146_48723154del,c.537_545del,p.179_182del |
| MEX3C(NM_016626,mex-3 RNA binding family member C,659aa) | g.18:48703397C>T,c.1304G>A,p.R435H |
| MEX3C(NM_016626,mex-3 RNA binding family member C,659aa) | g.18:48703379T>C,c.1322A>G,p.N441S |
| MEX3C(NM_016626,mex-3 RNA binding family member C,659aa) | g.18:48703029G>A,c.1672C>T,p.R558W |
| MEX3B(NM_032246,mex-3 RNA binding family member B,569aa) | g.15:82336508G>A,c.703C>T,p.L235F |
| MEX3B(NM_032246,mex-3 RNA binding family member B,569aa) | g.15:82336154G>A,c.1057C>T,p.P353S |
| MEX3B(NM_032246,mex-3 RNA binding family member B,569aa) | g.15:82335761C>T,c.1450G>A,p.G484S |
| MEX3B(NM_032246,mex-3 RNA binding family member B,569aa) | g.15:82335694G>A,c.1517C>T,p.S506F |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172195890G>C,c.410C>G,p.A137G |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172195875G>A,c.425C>T,p.S142L |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172195872C>G,c.428G>C,p.R143T |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172182413T>C,c.971A>G,p.H324R |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172182377C>T,c.1007G>A,p.G336D |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172180842C>T,c.1064G>A,p.S355N |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172180813G>A,c.1093C>T,p.R365C |
| METTL8(NM_024770,methyltransferase like 8,407aa) | g.2:172180771A>G,c.1135T>C,p.X379R |
| METTL7B(NM_152637,methyltransferase like 7B,244aa) | g.12:56077772A>G,c.674A>G,p.Q225R |
| METTL7B(NM_152637,methyltransferase like 7B,244aa) | g.12:56077730A>G,c.632A>G,p.D211G |
| METTL7B(NM_152637,methyltransferase like 7B,244aa) | g.12:56077691T>C,c.593T>C,p.I198T |
| METTL7B(NM_152637,methyltransferase like 7B,244aa) | g.12:56077672G>A,c.574G>A,p.E192K |