| 基因名 | 突变 |
|---|---|
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114904734A>G,c.572T>C,p.I191T |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114904705G>C,c.601C>G,p.Q201E |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114886636G>A,c.787C>T,p.R263C |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114886569C>T,c.854G>A,p.G285D |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114874033C>T,c.1072G>A,p.V358M |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114873997C>T,c.1108G>A,p.V370M |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114864532T>C,c.1205A>G,p.N402S |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114840913C>T,c.1658G>A,p.C553Y |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114825299C>T,c.1768G>A,p.E590K |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114820830G>C,c.1987C>G,p.P663A |
| SUSD1(NM_022486,sushi domain containing 1,747aa) | g.9:114804166G>A,c.2224C>T,p.L742F |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136199503G>A,c.487C>T,p.R163W |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136199466G>A,c.524C>T,p.T175M |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136199421G>A,c.569C>T,p.T190M |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136199397A>C,c.593T>G,p.L198R |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136198988A>G,c.803T>C,p.M268T |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136198932G>C,c.859C>G,p.R287G |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136198878G>A,c.913C>T,p.R305C |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136198859G>A,c.932C>T,p.T311M |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136198803G>A,c.988C>T,p.R330C |
| SURF6(NM_006753,surfeit 6,361aa) | g.9:136198734G>C,c.1057C>G,p.Q353E |
| SURF4(NM_001280790,surfeit 4,226aa) | g.9:136233510C>A,c.148G>T,p.A50S |
| SURF2(NM_017503,surfeit 2,256aa) | g.9:136228007C>T,c.763C>T,p.P255S |
| SURF2(NM_017503,surfeit 2,256aa) | g.9:136228001A>G,c.757A>G,p.K253E |
| SURF2(NM_017503,surfeit 2,256aa) | g.9:136228000T>G,c.756T>G,p.C252W |
| SURF2(NM_017503,surfeit 2,256aa) | g.9:136227945C>T,c.701C>T,p.S234L |
| SURF2(NM_017503,surfeit 2,256aa) | g.9:136227260A>G,c.637A>G,p.S213G |
| SURF2(NM_017503,surfeit 2,256aa) | g.9:136227213A>G,c.590A>G,p.K197R |