| 基因名 | 突变 |
|---|---|
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67187340A>G,c.1988T>C,p.L663S |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67186505C>T,c.2125G>A,p.E709K |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67183939G>T,c.2213C>A,p.S738Y |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67183925T>A,c.2227A>T,p.R743X |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67183892G>A,c.2260C>T,p.R754X |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67181720G>A,c.2395C>T,p.R799C |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67178929C>G,c.2518G>C,p.V840L |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67178316A>G,c.2747T>C,p.M916T |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67170885G>C,c.2911C>G,p.L971V |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67152992T>G,c.3436A>C,p.N1146H |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67152055C>T,c.3467G>A,p.R1156Q |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67152020C>T,c.3502G>A,p.E1168K |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67150465_67150466insACCTGGAA,c.3696_3697insTTCCAGGT,p.1232fs |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67150151C>T,c.3787-1G>A,p.1263Acceptor |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67149973G>A,c.3964C>T,p.R1322X |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67149972C>T,c.3965G>A,p.R1322Q |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67149616C>T,c.4037G>A,p.R1346K |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67146188C>T,c.4414G>A,p.A1472T |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67146149G>A,c.4453C>T,p.R1485W |
| ABCA10(NM_080282,ATP-binding cassette, sub-family A (ABC1), member 10,1543aa) | g.17:67145191_67145192del,c.4515_4516del,p.1505fs |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8873340G>A,c.1274G>A,p.R425Q |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8870280G>A,c.1202G>A,p.R401Q |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8870264A>G,c.1186A>G,p.I396V |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8862762C>T,c.748C>T,p.R250W |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8862087T>C,c.641T>C,p.M214T |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8839954A>G,c.167A>G,p.Q56R |
| ABAT(NM_000663,4-aminobutyrate aminotransferase,500aa) | g.16:8829651C>T,c.55C>T,p.R19C |
| AATK(NM_001080395,apoptosis-associated tyrosine kinase,1374aa) | g.17:79108292G>A,c.65C>T,p.P22L |