| 基因名 | 突变 |
|---|---|
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73676746C>G,c.3089C>G,p.T1030S |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73676070G>C,c.2413G>C,p.V805L |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73676008A>G,c.2351A>G,p.E784G |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675788C>G,c.2131C>G,p.L711V |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675719A>G,c.2062A>G,p.T688A |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675669T>G,c.2012T>G,p.V671G |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675630C>T,c.1973C>T,p.T658M |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675525A>G,c.1868A>G,p.H623R |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675227T>C,c.1570T>C,p.S524P |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675227_73675228insCTC,c.1570_1571insCTC,p.524ins1aa |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73675110A>G,c.1453A>G,p.I485V |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73653610G>A,c.1267G>A,p.V423I |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73651967C>T,c.1174C>T,p.R392C |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73651937A>G,c.1144A>G,p.T382A |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73651919A>T,c.1126A>T,p.T376S |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73651806G>A,c.1013G>A,p.R338H |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73651767C>T,c.974C>T,p.S325L |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73650009C>A,c.671C>A,p.P224H |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73646368C>A,c.568C>A,p.L190M |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73613032_73613037del,c.36_41del,p.12_14del |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73613032_73613034del,c.36_38del,p.12_13del |
| ALMS1(NM_015120,Alstrom syndrome 1,4167aa) | g.2:73613031_73613032insGGA,c.35_36insGGA,p.12ins1aa |
| ALLC(NM_018436,allantoicase,391aa) | g.2:3750067C>T,c.1090C>T,p.R364W |
| ALLC(NM_018436,allantoicase,391aa) | g.2:3750007G>A,c.1030G>A,p.V344I |
| ALLC(NM_018436,allantoicase,391aa) | g.2:3749153_3749155del,c.902_904del,p.301_302del |
| ALLC(NM_018436,allantoicase,391aa) | g.2:3749152_3749154del,c.901_903del,p.301del |
| ALLC(NM_018436,allantoicase,391aa) | g.2:3743310G>A,c.515G>A,p.G172D |
| ALLC(NM_018436,allantoicase,391aa) | g.2:3729254C>T,c.329C>T,p.T110I |