| 基因名 | 突变 |
|---|---|
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1273790T>C,c.1291A>G,p.T431A |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1273479G>A,c.1517C>T,p.P506L |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1273365T>C,c.1631A>G,p.Q544R |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1271871C>T,c.1664G>A,p.R555Q |
| DVL1(NM_004421,dishevelled segment polarity protein 1,670aa) | g.1:1271853G>C,c.1682C>G,p.P561R |
| DUXA(NM_001012729,double homeobox A,204aa) | g.19:57672142G>A,c.49C>T,p.R17C |
| DUXA(NM_001012729,double homeobox A,204aa) | g.19:57670570C>A,c.257G>T,p.S86I |
| DUXA(NM_001012729,double homeobox A,204aa) | g.19:57665822del,c.573del,p.191fs |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487678G>T,c.405G>T,p.E135D |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487667G>A,c.394G>A,p.G132S |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487665C>T,c.392C>T,p.T131M |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487618G>T,c.345G>T,p.K115N |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487608C>G,c.335C>G,p.A112G |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487605G>T,c.332G>T,p.R111L |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487604C>T,c.331C>T,p.R111X |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487592G>A,c.319G>A,p.A107T |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487585C>G,c.312C>G,p.F104L |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487578C>G,c.305C>G,p.T102S |
| DUX4L3(NM_001164467,double homeobox 4 like 3,424aa) | g.10:135487559C>T,c.286C>T,p.R96X |
| DUT(NM_001025248,deoxyuridine triphosphatase,252aa) | g.15:48623812G>A,c.100G>A,p.E34K |
| DUSP9(NM_001395,dual specificity phosphatase 9,384aa) | g.X:152915740T>C,c.1135T>C,p.F379L |
| DUSP9(NM_001395,dual specificity phosphatase 9,384aa) | g.X:152914842G>A,c.529G>A,p.E177K |
| DUSP8(NM_004420,dual specificity phosphatase 8,625aa) | g.11:1580226G>C,c.430C>G,p.L144V |
| DUSP8(NM_004420,dual specificity phosphatase 8,625aa) | g.11:1578494G>A,c.1132C>T,p.H378Y |
| DUSP8(NM_004420,dual specificity phosphatase 8,625aa) | g.11:1578398C>T,c.1228G>A,p.G410S |
| DUSP7(NM_001947,dual specificity phosphatase 7,419aa) | g.3:52088357T>C,c.551A>G,p.E184G |
| DUSP7(NM_001947,dual specificity phosphatase 7,419aa) | g.3:52084908C>T,c.1183G>A,p.A395T |
| DUSP6(NM_001946,dual specificity phosphatase 6,381aa) | g.12:89745557G>A,c.260C>T,p.T87I |