| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132296909A= | CA1882092055 | SETX | c.5927T= (p.Leu1976=) c.653T= (p.Leu218=) n.5843T= c.380T= (p.Leu127=) n.5482T= | |
| 9 | g.132296909A>C | CA252189 | SETX | c.5927T>G (p.Leu1976Arg) c.653T>G (p.Leu218Arg) n.5843T>G c.380T>G (p.Leu127Arg) n.5482T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296909A>G | CA375343770 | SETX | c.5927T>C (p.Leu1976Pro) c.653T>C (p.Leu218Pro) n.5843T>C c.380T>C (p.Leu127Pro) n.5482T>C | |
| 9 | g.132296909A>T | CA375343765 | SETX | c.5927T>A (p.Leu1976His) c.653T>A (p.Leu218His) n.5843T>A c.380T>A (p.Leu127His) n.5482T>A | |
| 9 | g.132296910G>A | CA375343784 | SETX | c.5926C>T (p.Leu1976Phe) c.652C>T (p.Leu218Phe) n.5842C>T c.379C>T (p.Leu127Phe) n.5481C>T | dbSNP gnomAD v4 |
| 9 | g.132296910G>C | CA375343772 | SETX | c.5926C>G (p.Leu1976Val) c.652C>G (p.Leu218Val) n.5842C>G c.379C>G (p.Leu127Val) n.5481C>G | |
| 9 | g.132296910G= | CA1882092058 | SETX | c.5926C= (p.Leu1976=) c.652C= (p.Leu218=) n.5842C= c.379C= (p.Leu127=) n.5481C= | |
| 9 | g.132296910G>T | CA375343776 | SETX | c.5926C>A (p.Leu1976Ile) c.652C>A (p.Leu218Ile) n.5842C>A c.379C>A (p.Leu127Ile) n.5481C>A | |
| 9 | g.132296911G>A | CA5296878 | SETX | c.5925C>T (p.Gly1975=) c.651C>T (p.Gly217=) n.5841C>T c.378C>T (p.Gly126=) n.5480C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132296911G>C | CA467428469 | SETX | c.5925C>G (p.Gly1975=) c.651C>G (p.Gly217=) n.5841C>G c.378C>G (p.Gly126=) n.5480C>G | |
| 9 | g.132296911G= | CA1882092059 | SETX | c.5925C= (p.Gly1975=) c.651C= (p.Gly217=) n.5841C= c.378C= (p.Gly126=) n.5480C= | |
| 9 | g.132296911G>T | CA467428470 | SETX | c.5925C>A (p.Gly1975=) c.651C>A (p.Gly217=) n.5841C>A c.378C>A (p.Gly126=) n.5480C>A | |
| 9 | g.132296912C>A | CA375343788 | SETX | c.5924G>T (p.Gly1975Val) c.650G>T (p.Gly217Val) n.5840G>T c.377G>T (p.Gly126Val) n.5479G>T | |
| 9 | g.132296912C>G | CA375343791 | SETX | c.5924G>C (p.Gly1975Ala) c.650G>C (p.Gly217Ala) n.5840G>C c.377G>C (p.Gly126Ala) n.5479G>C | |
| 9 | g.132296912C>T | CA375343794 | SETX | c.5924G>A (p.Gly1975Asp) c.650G>A (p.Gly217Asp) n.5840G>A c.377G>A (p.Gly126Asp) n.5479G>A | |
| 9 | g.132296912_132296915delinsCCAA | CA1882092060 | SETX | c.5921_5924delinsTTGG (p.Val1974=) c.647_650delinsTTGG (p.Val216=) n.5837_5840delinsTTGG c.374_377delinsTTGG (p.Val125=) n.5476_5479delinsTTGG | |
| 9 | g.132296913C>A | CA375343799 | SETX | c.5923G>T (p.Gly1975Cys) c.649G>T (p.Gly217Cys) n.5839G>T c.376G>T (p.Gly126Cys) n.5478G>T | |
| 9 | g.132296913C>G | CA375343802 | SETX | c.5923G>C (p.Gly1975Arg) c.649G>C (p.Gly217Arg) n.5839G>C c.376G>C (p.Gly126Arg) n.5478G>C | |
| 9 | g.132296913C>T | CA375343807 | SETX | c.5923G>A (p.Gly1975Ser) c.649G>A (p.Gly217Ser) n.5839G>A c.376G>A (p.Gly126Ser) n.5478G>A | gnomAD v4 |
| 9 | g.132296916_132296918del | CA1882092061 | SETX | c.5921_5923del (p.Val1974del) c.647_649del (p.Val216del) n.5837_5839del c.374_376del (p.Val125del) n.5476_5478del | dbSNP |
| 9 | g.132296914A>C | CA467428471 | SETX | c.5922T>G (p.Val1974=) c.648T>G (p.Val216=) n.5838T>G c.375T>G (p.Val125=) n.5477T>G | |
| 9 | g.132296914A>G | CA467428473 | SETX | c.5922T>C (p.Val1974=) c.648T>C (p.Val216=) n.5838T>C c.375T>C (p.Val125=) n.5477T>C | |
| 9 | g.132296914A>T | CA467428472 | SETX | c.5922T>A (p.Val1974=) c.648T>A (p.Val216=) n.5838T>A c.375T>A (p.Val125=) n.5477T>A | |
| 9 | g.132296915A>C | CA375343817 | SETX | c.5921T>G (p.Val1974Gly) c.647T>G (p.Val216Gly) n.5837T>G c.374T>G (p.Val125Gly) n.5476T>G | gnomAD v4 |
| 9 | g.132296915A>G | CA375343820 | SETX | c.5921T>C (p.Val1974Ala) c.647T>C (p.Val216Ala) n.5837T>C c.374T>C (p.Val125Ala) n.5476T>C | |
| 9 | g.132296915A>T | CA375343822 | SETX | c.5921T>A (p.Val1974Asp) c.647T>A (p.Val216Asp) n.5837T>A c.374T>A (p.Val125Asp) n.5476T>A | |
| 9 | g.132296916C>A | CA375343839 | SETX | c.5920G>T (p.Val1974Phe) c.646G>T (p.Val216Phe) n.5836G>T c.373G>T (p.Val125Phe) n.5475G>T | |
| 9 | g.132296916C>G | CA375343837 | SETX | c.5920G>C (p.Val1974Leu) c.646G>C (p.Val216Leu) n.5836G>C c.373G>C (p.Val125Leu) n.5475G>C | |
| 9 | g.132296916C>T | CA375343834 | SETX | c.5920G>A (p.Val1974Ile) c.646G>A (p.Val216Ile) n.5836G>A c.373G>A (p.Val125Ile) n.5475G>A | |
| 9 | g.132296917A>C | CA375343842 | SETX | c.5919T>G (p.Ile1973Met) c.645T>G (p.Ile215Met) n.5835T>G c.372T>G (p.Ile124Met) n.5474T>G | |
| 9 | g.132296917A>G | CA467428474 | SETX | c.5919T>C (p.Ile1973=) c.645T>C (p.Ile215=) n.5835T>C c.372T>C (p.Ile124=) n.5474T>C | |
| 9 | g.132296917A>T | CA467428475 | SETX | c.5919T>A (p.Ile1973=) c.645T>A (p.Ile215=) n.5835T>A c.372T>A (p.Ile124=) n.5474T>A | gnomAD v4 |
| 9 | g.132296918A= | CA1882092062 | SETX | c.5918T= (p.Ile1973=) c.644T= (p.Ile215=) n.5834T= c.371T= (p.Ile124=) n.5473T= | |
| 9 | g.132296918A>C | CA375343844 | SETX | c.5918T>G (p.Ile1973Ser) c.644T>G (p.Ile215Ser) n.5834T>G c.371T>G (p.Ile124Ser) n.5473T>G | |
| 9 | g.132296918A>G | CA375343845 | SETX | c.5918T>C (p.Ile1973Thr) c.644T>C (p.Ile215Thr) n.5834T>C c.371T>C (p.Ile124Thr) n.5473T>C | dbSNP |
| 9 | g.132296918A>T | CA375343846 | SETX | c.5918T>A (p.Ile1973Asn) c.644T>A (p.Ile215Asn) n.5834T>A c.371T>A (p.Ile124Asn) n.5473T>A | |
| 9 | g.132296919T>A | CA375343847 | SETX | c.5917A>T (p.Ile1973Phe) c.643A>T (p.Ile215Phe) n.5833A>T c.370A>T (p.Ile124Phe) n.5472A>T | |
| 9 | g.132296919T>C | CA375343848 | SETX | c.5917A>G (p.Ile1973Val) c.643A>G (p.Ile215Val) n.5833A>G c.370A>G (p.Ile124Val) n.5472A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132296919T>G | CA375343850 | SETX | c.5917A>C (p.Ile1973Leu) c.643A>C (p.Ile215Leu) n.5833A>C c.370A>C (p.Ile124Leu) n.5472A>C | |
| 9 | g.132296919T= | CA1882092063 | SETX | c.5917A= (p.Ile1973=) c.643A= (p.Ile215=) n.5833A= c.370A= (p.Ile124=) n.5472A= | |
| 9 | g.132296920A>C | CA467428476 | SETX | c.5916T>G (p.Thr1972=) c.642T>G (p.Thr214=) n.5832T>G c.369T>G (p.Thr123=) n.5471T>G | |
| 9 | g.132296920A>G | CA467428477 | SETX | c.5916T>C (p.Thr1972=) c.642T>C (p.Thr214=) n.5832T>C c.369T>C (p.Thr123=) n.5471T>C | |
| 9 | g.132296920A>T | CA467428478 | SETX | c.5916T>A (p.Thr1972=) c.642T>A (p.Thr214=) n.5832T>A c.369T>A (p.Thr123=) n.5471T>A | |
| 9 | g.132296921G>A | CA375343851 | SETX | c.5915C>T (p.Thr1972Ile) c.641C>T (p.Thr214Ile) n.5831C>T c.368C>T (p.Thr123Ile) n.5470C>T | |
| 9 | g.132296921G>C | CA375343853 | SETX | c.5915C>G (p.Thr1972Ser) c.641C>G (p.Thr214Ser) n.5831C>G c.368C>G (p.Thr123Ser) n.5470C>G | |
| 9 | g.132296921G>T | CA375343855 | SETX | c.5915C>A (p.Thr1972Asn) c.641C>A (p.Thr214Asn) n.5831C>A c.368C>A (p.Thr123Asn) n.5470C>A | |
| 9 | g.132296922T>A | CA375343859 | SETX | c.5914A>T (p.Thr1972Ser) c.640A>T (p.Thr214Ser) n.5830A>T c.367A>T (p.Thr123Ser) n.5469A>T | |
| 9 | g.132296922T>C | CA375343862 | SETX | c.5914A>G (p.Thr1972Ala) c.640A>G (p.Thr214Ala) n.5830A>G c.367A>G (p.Thr123Ala) n.5469A>G | |
| 9 | g.132296922T>G | CA375343865 | SETX | c.5914A>C (p.Thr1972Pro) c.640A>C (p.Thr214Pro) n.5830A>C c.367A>C (p.Thr123Pro) n.5469A>C | |
| 9 | g.132296923T>A | CA375343868 | SETX | c.5913A>T (p.Lys1971Asn) c.639A>T (p.Lys213Asn) n.5829A>T c.366A>T (p.Lys122Asn) n.5468A>T |