| 基因名 | 突变 |
|---|---|
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4439693G>A,c.1579G>A,p.V527I |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4439675G>A,c.1561G>A,p.A521T |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4439395G>A,c.1369G>A,p.A457T |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4437095G>A,c.1291G>A,p.V431I |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4436698G>A,c.1249G>A,p.A417T |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4436671G>T,c.1222G>T,p.A408S |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4436282G>A,c.946G>A,p.V316I |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4435976G>A,c.932G>A,p.R311Q |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4435856T>A,c.812T>A,p.M271K |
| SPNS2(NM_001124758,spinster homolog 2 (Drosophila),549aa) | g.17:4434030C>T,c.677C>T,p.T226M |
| SPNS1(NM_032038,spinster homolog 1 (Drosophila),528aa) | g.16:28995583G>A,c.1550G>A,p.R517H |
| SPNS1(NM_032038,spinster homolog 1 (Drosophila),528aa) | g.16:28990587C>T,c.556C>T,p.R186W |
| SPNS1(NM_032038,spinster homolog 1 (Drosophila),528aa) | g.16:28990545C>G,c.514C>G,p.P172A |
| SPNS1(NM_032038,spinster homolog 1 (Drosophila),528aa) | g.16:28986603A>G,c.131A>G,p.Q44R |
| SPNS1(NM_032038,spinster homolog 1 (Drosophila),528aa) | g.16:28986573C>T,c.101C>T,p.P34L |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675936G>A,c.887G>A,p.R296H |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675896C>T,c.847C>T,p.R283W |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675855T>C,c.806T>C,p.V269A |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675724C>G,c.675C>G,p.S225R |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675326A>G,c.277A>G,p.T93A |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675137G>A,c.88G>A,p.G30R |
| SPN(NM_001030288,sialophorin,400aa) | g.16:29675114C>T,c.65C>T,p.T22I |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89927195C>G,c.1567C>G,p.L523V |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89927183G>A,c.1555G>A,p.D519N |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89927151C>T,c.1523C>T,p.S508L |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89927114G>C,c.1486G>C,p.D496H |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89927102G>A,c.1474G>A,p.A492T |
| SPIRE2(NM_032451,spire-type actin nucleation factor 2,714aa) | g.16:89922024C>T,c.908C>T,p.P303L |