| Genename | Variants |
|---|---|
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044503G>C,c.2941C>G,p.L981V |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044259G>A,c.3185C>T,p.T1062I |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044247T>C,c.3197A>G,p.N1066S |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044235G>A,c.3209C>T,p.S1070L |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43044193G>A,c.3251C>T,p.T1084M |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43038438A>G,c.3290T>C,p.V1097A |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43038399C>T,c.3329G>A,p.R1110H |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43038363G>C,c.3365C>G,p.P1122R |
| TTBK2(NM_173500,tau tubulin kinase 2,1244aa) | g.15:43038211G>A,c.3517C>T,p.R1173W |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43252906C>G,c.3758C>G,p.S1253C |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43252845C>G,c.3697C>G,p.P1233A |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43252029T>C,c.3551T>C,p.L1184S |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43251912A>G,c.3434A>G,p.K1145R |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43251711G>A,c.3233G>A,p.R1078Q |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43251608C>T,c.3130C>T,p.R1044C |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43251485C>T,c.3007C>T,p.R1003W |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43251428G>C,c.2950G>C,p.A984P |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43250726_43250728del,c.2248_2250del,p.750del |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43250710G>C,c.2232G>C,p.E744D |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43250577G>A,c.2099G>A,p.R700Q |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43250558G>A,c.2080G>A,p.D694N |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43231048C>G,c.1946C>G,p.P649R |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43230970G>C,c.1868G>C,p.G623A |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43230940C>T,c.1838C>T,p.P613L |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43230852C>T,c.1750C>T,p.R584W |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43227360G>A,c.1340G>A,p.R447H |
| TTBK1(NM_032538,tau tubulin kinase 1,1321aa) | g.6:43226931_43226932insC,c.1172_1173insC,p.391fs |
| TST(NM_003312,thiosulfate sulfurtransferase (rhodanese),297aa) | g.22:37414468T>G,c.306A>C,p.E102D |