| Genename | Variants |
|---|---|
| SNX14(NM_153816,sorting nexin 14,946aa) | g.6:86257229T>G,c.907A>C,p.S303R |
| SNX13(NM_015132,sorting nexin 13,957aa) | g.7:17933013T>C,c.170A>G,p.K57R |
| SNX13(NM_015132,sorting nexin 13,957aa) | g.7:17913195G>A,c.709C>T,p.P237S |
| SNX11(NM_152244,sorting nexin 11,270aa) | g.17:46198679G>A,c.622G>A,p.A208T |
| SNX11(NM_152244,sorting nexin 11,270aa) | g.17:46189433A>C,c.28A>C,p.N10H |
| SNX10(NM_001199835,sorting nexin 10,201aa) | g.7:26404176A>G,c.133A>G,p.M45V |
| SNX10(NM_001199835,sorting nexin 10,201aa) | g.7:26400674G>A,c.104G>A,p.C35Y |
| SNW1(NM_012245,SNW domain containing 1,536aa) | g.14:78221420C>T,c.58G>A,p.A20T |
| SNUPN(NM_005701,snurportin 1,360aa) | g.15:75913266G>A,c.127C>T,p.R43C |
| SNUPN(NM_005701,snurportin 1,360aa) | g.15:75913263G>A,c.130C>T,p.R44C |
| SNUPN(NM_005701,snurportin 1,360aa) | g.15:75913260G>A,c.133C>T,p.R45W |
| SNUPN(NM_005701,snurportin 1,360aa) | g.15:75901899C>G,c.502G>C,p.D168H |
| SNUPN(NM_005701,snurportin 1,360aa) | g.15:75893532G>A,c.706C>T,p.P236S |
| SNUPN(NM_005701,snurportin 1,360aa) | g.15:75890811A>T,c.971T>A,p.L324H |
| SNTN(NM_001080537,sentan, cilia apical structure protein,147aa) | g.3:63649759A>C,c.432A>C,p.K144N |
| SNTN(NM_001080537,sentan, cilia apical structure protein,147aa) | g.3:63645496A>G,c.241A>G,p.I81V |
| SNTN(NM_001080537,sentan, cilia apical structure protein,147aa) | g.3:63645410A>G,c.155A>G,p.K52R |
| SNTN(NM_001080537,sentan, cilia apical structure protein,147aa) | g.3:63640457C>A,c.130C>A,p.L44M |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1320143C>T,c.1484C>T,p.T495M |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1320040G>A,c.1381G>A,p.V461M |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1312299A>G,c.1318A>G,p.M440V |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1312289G>T,c.1308G>T,p.W436C |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1271281G>A,c.1222G>A,p.E408K |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1271230A>G,c.1171A>G,p.I391V |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1243512G>C,c.852G>C,p.M284I |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1241749G>A,c.809G>A,p.R270Q |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1241712C>T,c.772C>T,p.R258W |
| SNTG2(NM_018968,syntrophin, gamma 2,539aa) | g.2:1204808C>T,c.611C>T,p.S204L |