| 基因名 | 突变 |
|---|---|
| PDZK1(NM_002614,PDZ domain containing 1,519aa) | g.1:145761368C>T,c.1181C>T,p.A394V |
| PDZK1(NM_002614,PDZ domain containing 1,519aa) | g.1:145761301G>A,c.1114G>A,p.V372I |
| PDZK1(NM_002614,PDZ domain containing 1,519aa) | g.1:145752479G>A,c.512G>A,p.R171K |
| PDZK1(NM_002614,PDZ domain containing 1,519aa) | g.1:145752447G>C,c.480G>C,p.M160I |
| PDZK1(NM_002614,PDZ domain containing 1,519aa) | g.1:145748503G>A,c.376G>A,p.G126S |
| PDZK1IP1(NM_005764,PDZK1 interacting protein 1,114aa) | g.1:47653052C>T,c.115G>A,p.V39M |
| PDZK1IP1(NM_005764,PDZK1 interacting protein 1,114aa) | g.1:47653037C>T,c.130G>A,p.V44I |
| PDZK1IP1(NM_005764,PDZK1 interacting protein 1,114aa) | g.1:47652992G>T,c.175C>A,p.P59T |
| PDZD9(NM_173806,PDZ domain containing 9,204aa) | g.16:22000061C>T,c.83G>A,p.R28Q |
| PDZD9(NM_173806,PDZ domain containing 9,204aa) | g.16:22000043A>C,c.101T>G,p.L34W |
| PDZD9(NM_173806,PDZ domain containing 9,204aa) | g.16:21995737C>T,c.466G>A,p.V156M |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119134707G>A,c.32C>T,p.A11V |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119134615C>T,c.124G>A,p.G42S |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119044800C>T,c.1444G>A,p.A482T |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119044242G>A,c.2002C>T,p.P668S |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119043876T>C,c.2368A>G,p.T790A |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119043554C>T,c.2690G>A,p.R897Q |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119043458T>G,c.2786A>C,p.N929T |
| PDZD8(NM_173791,PDZ domain containing 8,1154aa) | g.10:119042933A>G,c.3311T>C,p.L1104S |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102783245G>A,c.490C>T,p.R164W |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102782123G>T,c.562C>A,p.R188S |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102782113A>T,c.572T>A,p.V191E |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102782062C>T,c.623G>A,p.R208Q |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102781653G>T,c.769C>A,p.Q257K |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102781620C>T,c.802G>A,p.D268N |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102781599C>T,c.823G>A,p.V275M |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102781577G>A,c.845C>T,p.T282M |
| PDZD7(NM_001195263,PDZ domain containing 7,1033aa) | g.10:102780425C>T,c.878G>A,p.R293Q |