| Genename | Variants |
|---|---|
| BTD(NM_001281723,biotinidase,545aa) | g.3:15676984_15676990delGCGGCTGinsTCC,c.104_110del,p.35fs |
| BTC(NM_001729,betacellulin,178aa) | g.4:75719517A>C,c.19T>G,p.C7G |
| BTC(NM_001729,betacellulin,178aa) | g.4:75681081G>A,c.269C>T,p.T90M |
| BTC(NM_001729,betacellulin,178aa) | g.4:75675841A>T,c.370T>A,p.L124M |
| BTC(NM_001729,betacellulin,178aa) | g.4:75675802C>T,c.409G>A,p.G137S |
| BTC(NM_001729,betacellulin,178aa) | g.4:75673351C>T,c.437G>A,p.R146Q |
| BTC(NM_001729,betacellulin,178aa) | g.4:75673342C>T,c.446G>A,p.R149H |
| BTBD9(NM_052893,BTB (POZ) domain containing 9,612aa) | g.6:38548022G>A,c.1006C>T,p.R336W |
| BTBD9(NM_052893,BTB (POZ) domain containing 9,612aa) | g.6:38545467T>C,c.1063A>G,p.M355V |
| BTBD9(NM_052893,BTB (POZ) domain containing 9,612aa) | g.6:38545385C>T,c.1145G>A,p.R382H |
| BTBD8(NM_183242,BTB (POZ) domain containing 8,378aa) | g.1:92568089A>G,c.407A>G,p.K136R |
| BTBD8(NM_183242,BTB (POZ) domain containing 8,378aa) | g.1:92554283G>A,c.178G>A,p.V60I |
| BTBD8(NM_183242,BTB (POZ) domain containing 8,378aa) | g.1:92546189T>C,c.61T>C,p.C21R |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93760826C>G,c.540G>C,p.E180D |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93760809T>C,c.557A>G,p.N186S |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93760690C>G,c.676G>C,p.E226Q |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93760476C>T,c.890G>A,p.R297Q |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93760283C>A,c.1083G>T,p.K361N |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93717956G>A,c.1795C>T,p.R599C |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93714943G>A,c.2000C>T,p.T667M |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93712554G>A,c.2200C>T,p.R734C |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93712337G>C,c.2417C>G,p.T806R |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93712290C>A,c.2464G>T,p.A822S |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93709170T>C,c.2848A>G,p.N950D |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93709016T>G,c.3002A>C,p.K1001T |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93708911C>A,c.3107G>T,p.R1036L |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93708848C>T,c.3170G>A,p.R1057Q |
| BTBD7(NM_001002860,BTB (POZ) domain containing 7,1132aa) | g.14:93708759A>C,c.3259T>G,p.S1087A |