| 基因名 | 突变 |
|---|---|
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249173G>A,c.638C>T,p.P213L |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249165T>A,c.646A>T,p.R216W |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249155G>A,c.656C>T,p.P219L |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249125G>A,c.686C>T,p.P229L |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249092C>T,c.719G>A,p.R240Q |
| WBSCR22(NM_001202560,Williams Beuren syndrome chromosome region 22,298aa) | g.7:73111952C>T,c.770C>T,p.S257L |
| WBSCR22(NM_001202560,Williams Beuren syndrome chromosome region 22,298aa) | g.7:73106930G>A,c.464G>A,p.R155Q |
| WBSCR22(NM_001202560,Williams Beuren syndrome chromosome region 22,298aa) | g.7:73106929C>T,c.463C>T,p.R155W |
| WBSCR17(NM_022479,Williams-Beuren syndrome chromosome region 17,598aa) | g.7:71175846G>A,c.1601G>A,p.R534Q |
| WBSCR17(NM_022479,Williams-Beuren syndrome chromosome region 17,598aa) | g.7:71135043C>T,c.1353C>T,p.D451D |
| WBSCR17(NM_022479,Williams-Beuren syndrome chromosome region 17,598aa) | g.7:70886081C>T,c.952C>T,p.L318F |
| WBSCR17(NM_022479,Williams-Beuren syndrome chromosome region 17,598aa) | g.7:70800578G>A,c.281G>A,p.R94Q |
| WBSCR17(NM_022479,Williams-Beuren syndrome chromosome region 17,598aa) | g.7:70597970A>G,c.182A>G,p.D61G |
| WBSCR16(NM_148842,Williams-Beuren syndrome chromosome region 16,454aa) | g.7:74489531G>A,c.43C>T,p.R15W |
| WBSCR16(NM_148842,Williams-Beuren syndrome chromosome region 16,454aa) | g.7:74489486T>C,c.88A>G,p.R30G |
| WBSCR16(NM_148842,Williams-Beuren syndrome chromosome region 16,454aa) | g.7:74482605G>A,c.455C>T,p.T152M |
| WBP4(NM_007187,WW domain binding protein 4,376aa) | g.13:41656881A>G,c.962A>G,p.Y321C |
| WBP4(NM_007187,WW domain binding protein 4,376aa) | g.13:41639200A>G,c.124A>G,p.K42E |
| WBP2(NM_012478,WW domain binding protein 2,261aa) | g.17:73843901A>G,c.508T>C,p.Y170H |
| WBP2(NM_012478,WW domain binding protein 2,261aa) | g.17:73843589C>T,c.634G>A,p.D212N |
| WBP2(NM_012478,WW domain binding protein 2,261aa) | g.17:73843039C>T,c.682G>A,p.A228T |
| WBP2NL(NM_152613,WBP2 N-terminal like,309aa) | g.22:42423110G>C,c.855G>C,p.Q285H |
| WBP2NL(NM_152613,WBP2 N-terminal like,309aa) | g.22:42418355G>T,c.509G>T,p.C170F |
| WBP2NL(NM_152613,WBP2 N-terminal like,309aa) | g.22:42418340C>G,c.494C>G,p.T165S |
| WBP2NL(NM_152613,WBP2 N-terminal like,309aa) | g.22:42418302G>A,c.456G>A,p.M152I |
| WBP2NL(NM_152613,WBP2 N-terminal like,309aa) | g.22:42416056A>G,c.362A>G,p.D121G |
| WBP2NL(NM_152613,WBP2 N-terminal like,309aa) | g.22:42394835C>G,c.13C>G,p.Q5E |
| WBP1(NM_012477,WW domain binding protein 1,269aa) | g.2:74687617C>T,c.619C>T,p.R207C |