| 基因名 | 突变 |
|---|---|
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85600095C>T,c.10124G>A,p.R3375Q |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85598427G>A,c.10382C>T,p.S3461L |
| WDFY3(NM_014991,WD repeat and FYVE domain containing 3,3526aa) | g.4:85594116G>A,c.10486C>T,p.R3496C |
| WDFY2(NM_052950,WD repeat and FYVE domain containing 2,400aa) | g.13:52332329C>T,c.1066C>T,p.R356C |
| WDFY2(NM_052950,WD repeat and FYVE domain containing 2,400aa) | g.13:52301909C>G,c.581C>G,p.T194R |
| WDFY2(NM_052950,WD repeat and FYVE domain containing 2,400aa) | g.13:52234740G>A,c.146G>A,p.R49H |
| WDFY1(NM_020830,WD repeat and FYVE domain containing 1,410aa) | g.2:224770709C>T,c.289G>A,p.V97I |
| WDFY1(NM_020830,WD repeat and FYVE domain containing 1,410aa) | g.2:224758989C>T,c.793G>A,p.G265R |
| WDFY1(NM_020830,WD repeat and FYVE domain containing 1,410aa) | g.2:224746738G>A,c.985C>T,p.R329C |
| WDFY1(NM_020830,WD repeat and FYVE domain containing 1,410aa) | g.2:224746659T>C,c.1064A>G,p.D355G |
| WDFY1(NM_020830,WD repeat and FYVE domain containing 1,410aa) | g.2:224744948G>A,c.1066C>T,p.R356W |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73280145C>T,c.740C>T,p.A247V |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73279955C>T,c.550C>T,p.R184C |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73279659G>A,c.409G>A,p.G137S |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73279549C>T,c.299C>T,p.A100V |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73279482T>C,c.232T>C,p.W78R |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73279413C>T,c.163C>T,p.R55W |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73279405A>G,c.155A>G,p.Q52R |
| WBSCR28(NM_182504,Williams-Beuren syndrome chromosome region 28,265aa) | g.7:73275565T>A,c.41T>A,p.I14N |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73256364G>A,c.107C>T,p.A36V |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73254812T>C,c.320A>G,p.Q107R |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73254452_73254453del,c.389-2del,p.130Acceptordel |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73254439C>T,c.400G>A,p.A134T |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73254424C>T,c.415G>A,p.G139S |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73254390G>A,c.449C>T,p.A150V |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249299G>C,c.512C>G,p.S171W |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249213G>T,c.598C>A,p.P200T |
| WBSCR27(NM_152559,Williams Beuren syndrome chromosome region 27,245aa) | g.7:73249203C>T,c.608G>A,p.R203H |