| Genename | Variants |
|---|---|
| AQP12A(NM_198998,aquaporin 12A,295aa) | g.2:241631647C>G,c.280C>G,p.Q94E |
| AQP12A(NM_198998,aquaporin 12A,295aa) | g.2:241631644G>A,c.277G>A,p.E93K |
| AQP12A(NM_198998,aquaporin 12A,295aa) | g.2:241631596G>A,c.229G>A,p.G77R |
| AQP12A(NM_198998,aquaporin 12A,295aa) | g.2:241631588C>T,c.221C>T,p.T74I |
| AQP12A(NM_198998,aquaporin 12A,295aa) | g.2:241631413T>G,c.83T>G,p.L28R |
| AQP11(NM_173039,aquaporin 11,271aa) | g.11:77301472G>T,c.435G>T,p.Q145H |
| AQP11(NM_173039,aquaporin 11,271aa) | g.11:77301471A>C,c.434A>C,p.Q145P |
| AQP11(NM_173039,aquaporin 11,271aa) | g.11:77301341G>A,c.304G>A,p.G102S |
| AQP10(NM_080429,aquaporin 10,301aa) | g.1:154296925C>A,c.875C>A,p.A292D |
| AQP10(NM_080429,aquaporin 10,301aa) | g.1:154296889C>G,c.839C>G,p.S280C |
| AQP10(NM_080429,aquaporin 10,301aa) | g.1:154295592C>T,c.367C>T,p.H123Y |
| AQP10(NM_080429,aquaporin 10,301aa) | g.1:154294499G>A,c.196G>A,p.V66I |
| AQP10(NM_080429,aquaporin 10,301aa) | g.1:154294464A>G,c.161A>G,p.N54S |
| AQP10(NM_080429,aquaporin 10,301aa) | g.1:154293675G>A,c.44G>A,p.R15Q |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32989872C>A,c.18G>T,p.W6C |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32989852C>T,c.38G>A,p.R13Q |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32989788C>G,c.102G>C,p.K34N |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32987594G>T,c.431C>A,p.S144Y |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32984657A>T,c.742T>A,p.L248M |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32974493C>T,c.837G>A,p.W279X |
| APTX(NM_001195249,aprataxin,342aa) | g.9:32973642C>T,c.883G>A,p.E295K |
| APRT(NM_000485,adenine phosphoribosyltransferase,180aa) | g.16:88876892C>T,c.260G>A,p.R87Q |
| APRT(NM_000485,adenine phosphoribosyltransferase,180aa) | g.16:88876886C>T,c.266G>A,p.R89Q |
| APRT(NM_000485,adenine phosphoribosyltransferase,180aa) | g.16:88876532C>T,c.346G>A,p.A116T |
| APRT(NM_000485,adenine phosphoribosyltransferase,180aa) | g.16:88876505C>T,c.373G>A,p.V125I |
| APRT(NM_000485,adenine phosphoribosyltransferase,180aa) | g.16:88876189C>T,c.460G>A,p.V154M |
| APP(NM_000484,amyloid beta (A4) precursor protein,770aa) | g.21:27372339C>T,c.1024G>A,p.G342S |
| APP(NM_000484,amyloid beta (A4) precursor protein,770aa) | g.21:27284152C>T,c.1810G>A,p.V604M |