| Genename | Variants |
|---|---|
| ADARB2(NM_018702,adenosine deaminase, RNA-specific, B2 (non-functional),739aa) | g.10:1230874C>T,c.1970G>A,p.R657Q |
| ADARB2(NM_018702,adenosine deaminase, RNA-specific, B2 (non-functional),739aa) | g.10:1230824G>A,c.2020C>T,p.R674W |
| ADARB1(NM_015833,adenosine deaminase, RNA-specific, B1,741aa) | g.21:46624486A>G,c.1702A>G,p.I568V |
| ADARB1(NM_015833,adenosine deaminase, RNA-specific, B1,741aa) | g.21:46596201_46596202insG,c.585_586insG,p.195fs |
| ADARB1(NM_015833,adenosine deaminase, RNA-specific, B1,741aa) | g.21:46595744A>G,c.128A>G,p.N43S |
| ADAP2(NM_018404,ArfGAP with dual PH domains 2,381aa) | g.17:29284874G>A,c.1133G>A,p.R378H |
| ADAP2(NM_018404,ArfGAP with dual PH domains 2,381aa) | g.17:29281526G>A,c.835G>A,p.A279T |
| ADAP2(NM_018404,ArfGAP with dual PH domains 2,381aa) | g.17:29250089G>A,c.225+1G>A,p.75Donor |
| ADAP2(NM_018404,ArfGAP with dual PH domains 2,381aa) | g.17:29250044G>A,c.181G>A,p.V61I |
| ADAP1(NM_006869,ArfGAP with dual PH domains 1,374aa) | g.7:959665G>A,c.328C>T,p.R110W |
| ADAP1(NM_006869,ArfGAP with dual PH domains 1,374aa) | g.7:959631G>A,c.362C>T,p.P121L |
| ADAP1(NM_006869,ArfGAP with dual PH domains 1,374aa) | g.7:959623G>C,c.370C>G,p.Q124E |
| ADAP1(NM_006869,ArfGAP with dual PH domains 1,374aa) | g.7:943894C>T,c.517G>A,p.A173T |
| ADAP1(NM_006869,ArfGAP with dual PH domains 1,374aa) | g.7:940181C>T,c.721G>A,p.G241S |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43280227C>T,c.22G>A,p.D8N |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43255232C>T,c.227G>A,p.R76Q |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43255220T>C,c.239A>G,p.K80R |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43255176C>T,c.283G>A,p.V95M |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43254243G>A,c.445C>T,p.R149W |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43251695G>A,c.631C>T,p.R211C |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43251662C>T,c.664G>A,p.E222K |
| ADA(NM_000022,adenosine deaminase,363aa) | g.20:43251253G>A,c.821C>T,p.P274L |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1510257C>T,c.253G>A,p.D85N |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1507585C>A,c.659G>T,p.R220L |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1507270C>T,c.823G>A,p.G275R |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1506879G>T,c.901C>A,p.P301T |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1506268G>A,c.1162C>T,p.R388C |
| ADAMTSL5(NM_213604,ADAMTS-like 5,471aa) | g.19:1506244C>T,c.1186G>A,p.V396I |