| Genename | Variants |
|---|---|
| ANKRD55(NM_024669,ankyrin repeat domain 55,614aa) | g.5:55407542C>T,c.1033G>A,p.V345M |
| ANKRD55(NM_024669,ankyrin repeat domain 55,614aa) | g.5:55407449A>G,c.1126T>C,p.S376P |
| ANKRD55(NM_024669,ankyrin repeat domain 55,614aa) | g.5:55406990C>A,c.1585G>T,p.V529F |
| ANKRD55(NM_024669,ankyrin repeat domain 55,614aa) | g.5:55398345G>C,c.1699C>G,p.L567V |
| ANKRD54(NM_138797,ankyrin repeat domain 54,300aa) | g.22:38240170C>T,c.76G>A,p.A26T |
| ANKRD54(NM_138797,ankyrin repeat domain 54,300aa) | g.22:38228981C>T,c.704G>A,p.R235H |
| ANKRD53(NM_024933,ankyrin repeat domain 53,343aa) | g.2:71209751C>T,c.827C>T,p.A276V |
| ANKRD53(NM_024933,ankyrin repeat domain 53,343aa) | g.2:71209218G>A,c.770G>A,p.R257H |
| ANKRD53(NM_024933,ankyrin repeat domain 53,343aa) | g.2:71209191T>C,c.743T>C,p.I248T |
| ANKRD53(NM_024933,ankyrin repeat domain 53,343aa) | g.2:71206384T>G,c.328T>G,p.Y110D |
| ANKRD53(NM_024933,ankyrin repeat domain 53,343aa) | g.2:71206370C>G,c.314C>G,p.A105G |
| ANKRD53(NM_024933,ankyrin repeat domain 53,343aa) | g.2:71206267G>A,c.211G>A,p.A71T |
| ANKRD52(NM_173595,ankyrin repeat domain 52,1076aa) | g.12:56648021C>T,c.736G>A,p.A246T |
| ANKRD52(NM_173595,ankyrin repeat domain 52,1076aa) | g.12:56645817C>T,c.1574G>A,p.R525H |
| ANKRD52(NM_173595,ankyrin repeat domain 52,1076aa) | g.12:56636975C>G,c.3182G>C,p.S1061T |
| ANKRD50(NM_020337,ankyrin repeat domain 50,1429aa) | g.4:125631564G>A,c.103C>T,p.H35Y |
| ANKRD50(NM_020337,ankyrin repeat domain 50,1429aa) | g.4:125593332G>A,c.1100C>T,p.T367M |
| ANKRD50(NM_020337,ankyrin repeat domain 50,1429aa) | g.4:125592846C>T,c.1586G>A,p.R529Q |
| ANKRD50(NM_020337,ankyrin repeat domain 50,1429aa) | g.4:125592798C>T,c.1634G>A,p.G545E |
| ANKRD50(NM_020337,ankyrin repeat domain 50,1429aa) | g.4:125592250C>T,c.2182G>A,p.A728T |
| ANKRD50(NM_020337,ankyrin repeat domain 50,1429aa) | g.4:125590492C>T,c.3940G>A,p.G1314R |
| ANKRD49(NM_017704,ankyrin repeat domain 49,239aa) | g.11:94231375G>A,c.397G>A,p.D133N |
| ANKRD46(NM_001270378,ankyrin repeat domain 46,228aa) | g.8:101542022C>T,c.40G>A,p.V14M |
| ANKRD45(NM_198493,ankyrin repeat domain 45,266aa) | g.1:173628509G>T,c.49C>A,p.Q17K |
| ANKRD45(NM_198493,ankyrin repeat domain 45,266aa) | g.1:173616057G>A,c.424C>T,p.R142W |
| ANKRD45(NM_198493,ankyrin repeat domain 45,266aa) | g.1:173616050T>C,c.431A>G,p.E144G |
| ANKRD45(NM_198493,ankyrin repeat domain 45,266aa) | g.1:173596257A>T,c.538T>A,p.L180I |
| ANKRD45(NM_198493,ankyrin repeat domain 45,266aa) | g.1:173594022C>T,c.634G>A,p.E212K |