| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.132296939_132296944del | CA2692254067 | SETX | c.5893_5898del (p.Pro1965_Gly1966del) c.619_624del (p.Pro207_Gly208del) n.5809_5814del c.346_351del (p.Pro116_Gly117del) n.5448_5453del | gnomAD v4 |
| 9 | g.132296942G>A | CA375344026 | SETX | c.5894C>T (p.Pro1965Leu) c.620C>T (p.Pro207Leu) n.5810C>T c.347C>T (p.Pro116Leu) n.5449C>T | |
| 9 | g.132296942G>C | CA375344029 | SETX | c.5894C>G (p.Pro1965Arg) c.620C>G (p.Pro207Arg) n.5810C>G c.347C>G (p.Pro116Arg) n.5449C>G | |
| 9 | g.132296942G>T | CA375344037 | SETX | c.5894C>A (p.Pro1965His) c.620C>A (p.Pro207His) n.5810C>A c.347C>A (p.Pro116His) n.5449C>A | |
| 9 | g.132296943G>A | CA375344046 | SETX | c.5893C>T (p.Pro1965Ser) c.619C>T (p.Pro207Ser) n.5809C>T c.346C>T (p.Pro116Ser) n.5448C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132296943G>C | CA375344041 | SETX | c.5893C>G (p.Pro1965Ala) c.619C>G (p.Pro207Ala) n.5809C>G c.346C>G (p.Pro116Ala) n.5448C>G | |
| 9 | g.132296943G= | CA1882092086 | SETX | c.5893C= (p.Pro1965=) c.619C= (p.Pro207=) n.5809C= c.346C= (p.Pro116=) n.5448C= | |
| 9 | g.132296943G>T | CA375344040 | SETX | c.5893C>A (p.Pro1965Thr) c.619C>A (p.Pro207Thr) n.5809C>A c.346C>A (p.Pro116Thr) n.5448C>A | |
| 9 | g.132296944T>A | CA467428494 | SETX | c.5892A>T (p.Pro1964=) c.618A>T (p.Pro206=) n.5808A>T c.345A>T (p.Pro115=) n.5447A>T | |
| 9 | g.132296944T>C | CA467428495 | SETX | c.5892A>G (p.Pro1964=) c.618A>G (p.Pro206=) n.5808A>G c.345A>G (p.Pro115=) n.5447A>G | dbSNP gnomAD v4 |
| 9 | g.132296944T>G | CA467428496 | SETX | c.5892A>C (p.Pro1964=) c.618A>C (p.Pro206=) n.5808A>C c.345A>C (p.Pro115=) n.5447A>C | |
| 9 | g.132296944T= | CA1882092088 | SETX | c.5892A= (p.Pro1964=) c.618A= (p.Pro206=) n.5808A= c.345A= (p.Pro115=) n.5447A= | |
| 9 | g.132296945G>A | CA375344049 | SETX | c.5891C>T (p.Pro1964Leu) c.617C>T (p.Pro206Leu) n.5807C>T c.344C>T (p.Pro115Leu) n.5446C>T | gnomAD v4 |
| 9 | g.132296945G>C | CA375344052 | SETX | c.5891C>G (p.Pro1964Arg) c.617C>G (p.Pro206Arg) n.5807C>G c.344C>G (p.Pro115Arg) n.5446C>G | |
| 9 | g.132296945G>T | CA375344054 | SETX | c.5891C>A (p.Pro1964Gln) c.617C>A (p.Pro206Gln) n.5807C>A c.344C>A (p.Pro115Gln) n.5446C>A | |
| 9 | g.132296946G>A | CA375344057 | SETX | c.5890C>T (p.Pro1964Ser) c.616C>T (p.Pro206Ser) n.5806C>T c.343C>T (p.Pro115Ser) n.5445C>T | ClinVar dbSNP |
| 9 | g.132296946G>C | CA375344063 | SETX | c.5890C>G (p.Pro1964Ala) c.616C>G (p.Pro206Ala) n.5806C>G c.343C>G (p.Pro115Ala) n.5445C>G | dbSNP |
| 9 | g.132296946G= | CA1882092092 | SETX | c.5890C= (p.Pro1964=) c.616C= (p.Pro206=) n.5806C= c.343C= (p.Pro115=) n.5445C= | |
| 9 | g.132296946G>T | CA375344066 | SETX | c.5890C>A (p.Pro1964Thr) c.616C>A (p.Pro206Thr) n.5806C>A c.343C>A (p.Pro115Thr) n.5445C>A | |
| 9 | g.132296947T>A | CA467428497 | SETX | c.5889A>T (p.Gly1963=) c.615A>T (p.Gly205=) n.5805A>T c.342A>T (p.Gly114=) n.5444A>T | |
| 9 | g.132296947T>C | CA467428498 | SETX | c.5889A>G (p.Gly1963=) c.615A>G (p.Gly205=) n.5805A>G c.342A>G (p.Gly114=) n.5444A>G | gnomAD v4 |
| 9 | g.132296947T>G | CA467428499 | SETX | c.5889A>C (p.Gly1963=) c.615A>C (p.Gly205=) n.5805A>C c.342A>C (p.Gly114=) n.5444A>C | |
| 9 | g.132296948C>A | CA375344069 | SETX | c.5888G>T (p.Gly1963Val) c.614G>T (p.Gly205Val) n.5804G>T c.341G>T (p.Gly114Val) n.5443G>T | |
| 9 | g.132296948C= | CA1882092096 | SETX | c.5888G= (p.Gly1963=) c.614G= (p.Gly205=) n.5804G= c.341G= (p.Gly114=) n.5443G= | |
| 9 | g.132296948C>G | CA375344071 | SETX | c.5888G>C (p.Gly1963Ala) c.614G>C (p.Gly205Ala) n.5804G>C c.341G>C (p.Gly114Ala) n.5443G>C | |
| 9 | g.132296948C>T | CA375344070 | SETX | c.5888G>A (p.Gly1963Glu) c.614G>A (p.Gly205Glu) n.5804G>A c.341G>A (p.Gly114Glu) n.5443G>A | |
| 9 | g.132296948_132296949insGCCGTAT | CA590947219 | SETX | c.5887_5888insATACGGC (p.Gly1963AspfsTer?) c.613_614insATACGGC (p.Gly205AspfsTer?) n.5803_5804insATACGGC c.340_341insATACGGC (p.Gly114AspfsTer?) n.5442_5443insATACGGC | dbSNP gnomAD v2 |
| 9 | g.132296949C>A | CA375344072 | SETX | c.5887G>T (p.Gly1963Ter) c.613G>T (p.Gly205Ter) n.5803G>T c.340G>T (p.Gly114Ter) n.5442G>T | |
| 9 | g.132296949C>G | CA375344074 | SETX | c.5887G>C (p.Gly1963Arg) c.613G>C (p.Gly205Arg) n.5803G>C c.340G>C (p.Gly114Arg) n.5442G>C | |
| 9 | g.132296949C>T | CA375344076 | SETX | c.5887G>A (p.Gly1963Arg) c.613G>A (p.Gly205Arg) n.5803G>A c.340G>A (p.Gly114Arg) n.5442G>A | |
| 9 | g.132296950A>C | CA375344078 | SETX | c.5886T>G (p.His1962Gln) c.612T>G (p.His204Gln) n.5802T>G c.339T>G (p.His113Gln) n.5441T>G | |
| 9 | g.132296950A>G | CA467428500 | SETX | c.5886T>C (p.His1962=) c.612T>C (p.His204=) n.5802T>C c.339T>C (p.His113=) n.5441T>C | |
| 9 | g.132296950A>T | CA375344085 | SETX | c.5886T>A (p.His1962Gln) c.612T>A (p.His204Gln) n.5802T>A c.339T>A (p.His113Gln) n.5441T>A | |
| 9 | g.132296951T>A | CA375344094 | SETX | c.5885A>T (p.His1962Leu) c.611A>T (p.His204Leu) n.5801A>T c.338A>T (p.His113Leu) n.5440A>T | |
| 9 | g.132296951T>C | CA375344100 | SETX | c.5885A>G (p.His1962Arg) c.611A>G (p.His204Arg) n.5801A>G c.338A>G (p.His113Arg) n.5440A>G | |
| 9 | g.132296951T>G | CA375344102 | SETX | c.5885A>C (p.His1962Pro) c.611A>C (p.His204Pro) n.5801A>C c.338A>C (p.His113Pro) n.5440A>C | |
| 9 | g.132296952G>A | CA375344107 | SETX | c.5884C>T (p.His1962Tyr) c.610C>T (p.His204Tyr) n.5800C>T c.337C>T (p.His113Tyr) n.5439C>T | |
| 9 | g.132296952G>C | CA375344110 | SETX | c.5884C>G (p.His1962Asp) c.610C>G (p.His204Asp) n.5800C>G c.337C>G (p.His113Asp) n.5439C>G | |
| 9 | g.132296952G= | CA1882092099 | SETX | c.5884C= (p.His1962=) c.610C= (p.His204=) n.5800C= c.337C= (p.His113=) n.5439C= | |
| 9 | g.132296952G>T | CA375344114 | SETX | c.5884C>A (p.His1962Asn) c.610C>A (p.His204Asn) n.5800C>A c.337C>A (p.His113Asn) n.5439C>A | dbSNP gnomAD v2 COSMIC COSMIC |
| 9 | g.132296953A= | CA1882092102 | SETX | c.5883T= (p.Ile1961=) c.609T= (p.Ile203=) n.5799T= c.336T= (p.Ile112=) n.5438T= | |
| 9 | g.132296953A>C | CA375344124 | SETX | c.5883T>G (p.Ile1961Met) c.609T>G (p.Ile203Met) n.5799T>G c.336T>G (p.Ile112Met) n.5438T>G | |
| 9 | g.132296953A>G | CA467428501 | SETX | c.5883T>C (p.Ile1961=) c.609T>C (p.Ile203=) n.5799T>C c.336T>C (p.Ile112=) n.5438T>C | dbSNP |
| 9 | g.132296953A>T | CA467428502 | SETX | c.5883T>A (p.Ile1961=) c.609T>A (p.Ile203=) n.5799T>A c.336T>A (p.Ile112=) n.5438T>A | |
| 9 | g.132296954A= | CA1882092103 | SETX | c.5882T= (p.Ile1961=) c.608T= (p.Ile203=) n.5798T= c.335T= (p.Ile112=) n.5437T= | |
| 9 | g.132296954A>C | CA375344127 | SETX | c.5882T>G (p.Ile1961Ser) c.608T>G (p.Ile203Ser) n.5798T>G c.335T>G (p.Ile112Ser) n.5437T>G | |
| 9 | g.132296954A>G | CA375344135 | SETX | c.5882T>C (p.Ile1961Thr) c.608T>C (p.Ile203Thr) n.5798T>C c.335T>C (p.Ile112Thr) n.5437T>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132296954A>T | CA375344130 | SETX | c.5882T>A (p.Ile1961Asn) c.608T>A (p.Ile203Asn) n.5798T>A c.335T>A (p.Ile112Asn) n.5437T>A | |
| 9 | g.132296955T>A | CA375344140 | SETX | c.5881A>T (p.Ile1961Phe) c.607A>T (p.Ile203Phe) n.5797A>T c.334A>T (p.Ile112Phe) n.5436A>T | |
| 9 | g.132296955T>C | CA375344141 | SETX | c.5881A>G (p.Ile1961Val) c.607A>G (p.Ile203Val) n.5797A>G c.334A>G (p.Ile112Val) n.5436A>G | |
| 9 | g.132296955T>G | CA375344142 | SETX | c.5881A>C (p.Ile1961Leu) c.607A>C (p.Ile203Leu) n.5797A>C c.334A>C (p.Ile112Leu) n.5436A>C | |
| 9 | g.132296956C>A | CA375344143 | SETX | c.5880G>T (p.Leu1960Phe) c.606G>T (p.Leu202Phe) n.5796G>T c.333G>T (p.Leu111Phe) n.5435G>T | |
| 9 | g.132296956C>G | CA375344144 | SETX | c.5880G>C (p.Leu1960Phe) c.606G>C (p.Leu202Phe) n.5796G>C c.333G>C (p.Leu111Phe) n.5435G>C | |
| 9 | g.132296956C>T | CA467428503 | SETX | c.5880G>A (p.Leu1960=) c.606G>A (p.Leu202=) n.5796G>A c.333G>A (p.Leu111=) n.5435G>A | |
| 9 | g.132296957A>C | CA375344145 | SETX | c.5879T>G (p.Leu1960Trp) c.605T>G (p.Leu202Trp) n.5795T>G c.332T>G (p.Leu111Trp) n.5434T>G | |
| 9 | g.132296957A>G | CA375344148 | SETX | c.5879T>C (p.Leu1960Ser) c.605T>C (p.Leu202Ser) n.5795T>C c.332T>C (p.Leu111Ser) n.5434T>C | |
| 9 | g.132296957A>T | CA375344152 | SETX | c.5879T>A (p.Leu1960Ter) c.605T>A (p.Leu202Ter) n.5795T>A c.332T>A (p.Leu111Ter) n.5434T>A | |
| 9 | g.132296958dup | CA2692254068 | SETX | c.5879dup (p.Leu1960PhefsTer?) c.605dup (p.Leu202PhefsTer?) n.5795dup c.332dup (p.Leu111PhefsTer?) n.5434dup | gnomAD v4 |
| 9 | g.132296958A= | CA1882092107 | SETX | c.5878T= (p.Leu1960=) c.604T= (p.Leu202=) n.5794T= c.331T= (p.Leu111=) n.5433T= | |
| 9 | g.132296958A>C | CA375344154 | SETX | c.5878T>G (p.Leu1960Val) c.604T>G (p.Leu202Val) n.5794T>G c.331T>G (p.Leu111Val) n.5433T>G | |
| 9 | g.132296958A>G | CA5296881 | SETX | c.5878T>C (p.Leu1960=) c.604T>C (p.Leu202=) n.5794T>C c.331T>C (p.Leu111=) n.5433T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132296958A>T | CA375344162 | SETX | c.5878T>A (p.Leu1960Met) c.604T>A (p.Leu202Met) n.5794T>A c.331T>A (p.Leu111Met) n.5433T>A | |
| 9 | g.132296959G>A | CA5296882 | SETX | c.5877C>T (p.Cys1959=) c.603C>T (p.Cys201=) n.5793C>T c.330C>T (p.Cys110=) n.5432C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132296959G>C | CA375344184 | SETX | c.5877C>G (p.Cys1959Trp) c.603C>G (p.Cys201Trp) n.5793C>G c.330C>G (p.Cys110Trp) n.5432C>G | |
| 9 | g.132296959G= | CA1882092110 | SETX | c.5877C= (p.Cys1959=) c.603C= (p.Cys201=) n.5793C= c.330C= (p.Cys110=) n.5432C= | |
| 9 | g.132296959G>T | CA375344168 | SETX | c.5877C>A (p.Cys1959Ter) c.603C>A (p.Cys201Ter) n.5793C>A c.330C>A (p.Cys110Ter) n.5432C>A | |
| 9 | g.132296960C>A | CA375344206 | SETX | c.5876G>T (p.Cys1959Phe) c.602G>T (p.Cys201Phe) n.5792G>T c.329G>T (p.Cys110Phe) n.5431G>T | |
| 9 | g.132296960C>G | CA375344208 | SETX | c.5876G>C (p.Cys1959Ser) c.602G>C (p.Cys201Ser) n.5792G>C c.329G>C (p.Cys110Ser) n.5431G>C | |
| 9 | g.132296960C>T | CA375344210 | SETX | c.5876G>A (p.Cys1959Tyr) c.602G>A (p.Cys201Tyr) n.5792G>A c.329G>A (p.Cys110Tyr) n.5431G>A | |
| 9 | g.132296961A>C | CA375344214 | SETX | c.5875T>G (p.Cys1959Gly) c.601T>G (p.Cys201Gly) n.5791T>G c.328T>G (p.Cys110Gly) n.5430T>G | |
| 9 | g.132296961A>G | CA375344217 | SETX | c.5875T>C (p.Cys1959Arg) c.601T>C (p.Cys201Arg) n.5791T>C c.328T>C (p.Cys110Arg) n.5430T>C | |
| 9 | g.132296961A>T | CA375344220 | SETX | c.5875T>A (p.Cys1959Ser) c.601T>A (p.Cys201Ser) n.5791T>A c.328T>A (p.Cys110Ser) n.5430T>A | |
| 9 | g.132296962G>A | CA467428505 | SETX | c.5874C>T (p.Ile1958=) c.600C>T (p.Ile200=) n.5790C>T c.327C>T (p.Ile109=) n.5429C>T | |
| 9 | g.132296962G>C | CA375344225 | SETX | c.5874C>G (p.Ile1958Met) c.600C>G (p.Ile200Met) n.5790C>G c.327C>G (p.Ile109Met) n.5429C>G | |
| 9 | g.132296962G>T | CA467428504 | SETX | c.5874C>A (p.Ile1958=) c.600C>A (p.Ile200=) n.5790C>A c.327C>A (p.Ile109=) n.5429C>A | |
| 9 | g.132296963A>C | CA375344229 | SETX | c.5873T>G (p.Ile1958Ser) c.599T>G (p.Ile200Ser) n.5789T>G c.326T>G (p.Ile109Ser) n.5428T>G | |
| 9 | g.132296963A>G | CA375344234 | SETX | c.5873T>C (p.Ile1958Thr) c.599T>C (p.Ile200Thr) n.5789T>C c.326T>C (p.Ile109Thr) n.5428T>C | |
| 9 | g.132296963A>T | CA375344235 | SETX | c.5873T>A (p.Ile1958Asn) c.599T>A (p.Ile200Asn) n.5789T>A c.326T>A (p.Ile109Asn) n.5428T>A | |
| 9 | g.132296964T>A | CA375344239 | SETX | c.5872A>T (p.Ile1958Phe) c.598A>T (p.Ile200Phe) n.5788A>T c.325A>T (p.Ile109Phe) n.5427A>T | |
| 9 | g.132296964T>C | CA5296883 | SETX | c.5872A>G (p.Ile1958Val) c.598A>G (p.Ile200Val) n.5788A>G c.325A>G (p.Ile109Val) n.5427A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.132296964T>G | CA375344261 | SETX | c.5872A>C (p.Ile1958Leu) c.598A>C (p.Ile200Leu) n.5788A>C c.325A>C (p.Ile109Leu) n.5427A>C | |
| 9 | g.132296964T= | CA1882092112 | SETX | c.5872A= (p.Ile1958=) c.598A= (p.Ile200=) n.5788A= c.325A= (p.Ile109=) n.5427A= | |
| 9 | g.132296967del | CA2720680770 | SETX | c.5872del (p.Ile1958SerfsTer3) c.598del (p.Ile200SerfsTer3) n.5788del c.325del (p.Ile109SerfsTer3) n.5427del | dbSNP |
| 9 | g.132296965T>A | CA375344266 | SETX | c.5871A>T (p.Lys1957Asn) c.597A>T (p.Lys199Asn) n.5787A>T c.324A>T (p.Lys108Asn) n.5426A>T | COSMIC COSMIC |
| 9 | g.132296965T>C | CA467428506 | SETX | c.5871A>G (p.Lys1957=) c.597A>G (p.Lys199=) n.5787A>G c.324A>G (p.Lys108=) n.5426A>G | |
| 9 | g.132296965T>G | CA375344268 | SETX | c.5871A>C (p.Lys1957Asn) c.597A>C (p.Lys199Asn) n.5787A>C c.324A>C (p.Lys108Asn) n.5426A>C | |
| 9 | g.132296966T>A | CA375344272 | SETX | c.5870A>T (p.Lys1957Ile) c.596A>T (p.Lys199Ile) n.5786A>T c.323A>T (p.Lys108Ile) n.5425A>T | |
| 9 | g.132296966T>C | CA375344276 | SETX | c.5870A>G (p.Lys1957Arg) c.596A>G (p.Lys199Arg) n.5786A>G c.323A>G (p.Lys108Arg) n.5425A>G | |
| 9 | g.132296966T>G | CA375344282 | SETX | c.5870A>C (p.Lys1957Thr) c.596A>C (p.Lys199Thr) n.5786A>C c.323A>C (p.Lys108Thr) n.5425A>C | |
| 9 | g.132296967T>A | CA375344283 | SETX | c.5869A>T (p.Lys1957Ter) c.595A>T (p.Lys199Ter) n.5785A>T c.322A>T (p.Lys108Ter) n.5424A>T | |
| 9 | g.132296967T>C | CA375344286 | SETX | c.5869A>G (p.Lys1957Glu) c.595A>G (p.Lys199Glu) n.5785A>G c.322A>G (p.Lys108Glu) n.5424A>G | |
| 9 | g.132296967T>G | CA375344289 | SETX | c.5869A>C (p.Lys1957Gln) c.595A>C (p.Lys199Gln) n.5785A>C c.322A>C (p.Lys108Gln) n.5424A>C | |
| 9 | g.132296968G>A | CA467428507 | SETX | c.5868C>T (p.Ala1956=) c.594C>T (p.Ala198=) n.5784C>T c.321C>T (p.Ala107=) n.5423C>T | |
| 9 | g.132296968G>C | CA467428509 | SETX | c.5868C>G (p.Ala1956=) c.594C>G (p.Ala198=) n.5784C>G c.321C>G (p.Ala107=) n.5423C>G | |
| 9 | g.132296968G>T | CA467428508 | SETX | c.5868C>A (p.Ala1956=) c.594C>A (p.Ala198=) n.5784C>A c.321C>A (p.Ala107=) n.5423C>A | |
| 9 | g.132296969G>A | CA375344296 | SETX | c.5867C>T (p.Ala1956Val) c.593C>T (p.Ala198Val) n.5783C>T c.320C>T (p.Ala107Val) n.5422C>T | |
| 9 | g.132296969G>C | CA375344294 | SETX | c.5867C>G (p.Ala1956Gly) c.593C>G (p.Ala198Gly) n.5783C>G c.320C>G (p.Ala107Gly) n.5422C>G | |
| 9 | g.132296969G>T | CA375344291 | SETX | c.5867C>A (p.Ala1956Asp) c.593C>A (p.Ala198Asp) n.5783C>A c.320C>A (p.Ala107Asp) n.5422C>A | |
| 9 | g.132296970C>A | CA375344303 | SETX | c.5866G>T (p.Ala1956Ser) c.592G>T (p.Ala198Ser) n.5782G>T c.319G>T (p.Ala107Ser) n.5421G>T | gnomAD v4 |
| 9 | g.132296970C>G | CA375344309 | SETX | c.5866G>C (p.Ala1956Pro) c.592G>C (p.Ala198Pro) n.5782G>C c.319G>C (p.Ala107Pro) n.5421G>C | |
| 9 | g.132296970C>T | CA375344312 | SETX | c.5866G>A (p.Ala1956Thr) c.592G>A (p.Ala198Thr) n.5782G>A c.319G>A (p.Ala107Thr) n.5421G>A | |
| 9 | g.132296971A>C | CA467428510 | SETX | c.5865T>G (p.Val1955=) c.591T>G (p.Val197=) n.5781T>G c.318T>G (p.Val106=) n.5420T>G | |
| 9 | g.132296971A>G | CA467428511 | SETX | c.5865T>C (p.Val1955=) c.591T>C (p.Val197=) n.5781T>C c.318T>C (p.Val106=) n.5420T>C | |
| 9 | g.132296971A>T | CA467428512 | SETX | c.5865T>A (p.Val1955=) c.591T>A (p.Val197=) n.5781T>A c.318T>A (p.Val106=) n.5420T>A | |
| 9 | g.132296972A>C | CA375344316 | SETX | c.5864T>G (p.Val1955Gly) c.590T>G (p.Val197Gly) n.5780T>G c.317T>G (p.Val106Gly) n.5419T>G | |
| 9 | g.132296972A>G | CA375344319 | SETX | c.5864T>C (p.Val1955Ala) c.590T>C (p.Val197Ala) n.5780T>C c.317T>C (p.Val106Ala) n.5419T>C | |
| 9 | g.132296972A>T | CA375344321 | SETX | c.5864T>A (p.Val1955Asp) c.590T>A (p.Val197Asp) n.5780T>A c.317T>A (p.Val106Asp) n.5419T>A | |
| 9 | g.132296973C>A | CA375344323 | SETX | c.5863G>T (p.Val1955Phe) c.589G>T (p.Val197Phe) n.5779G>T c.316G>T (p.Val106Phe) n.5418G>T | |
| 9 | g.132296973C>G | CA375344326 | SETX | c.5863G>C (p.Val1955Leu) c.589G>C (p.Val197Leu) n.5779G>C c.316G>C (p.Val106Leu) n.5418G>C | |
| 9 | g.132296973C>T | CA375344325 | SETX | c.5863G>A (p.Val1955Ile) c.589G>A (p.Val197Ile) n.5779G>A c.316G>A (p.Val106Ile) n.5418G>A | |
| 9 | g.132296974T>A | CA467428513 | SETX | c.5862A>T (p.Ser1954=) c.588A>T (p.Ser196=) n.5778A>T c.315A>T (p.Ser105=) n.5417A>T | |
| 9 | g.132296974T>C | CA467428515 | SETX | c.5862A>G (p.Ser1954=) c.588A>G (p.Ser196=) n.5778A>G c.315A>G (p.Ser105=) n.5417A>G | gnomAD v4 |
| 9 | g.132296974T>G | CA467428514 | SETX | c.5862A>C (p.Ser1954=) c.588A>C (p.Ser196=) n.5778A>C c.315A>C (p.Ser105=) n.5417A>C | |
| 9 | g.132296975G>A | CA375344329 | SETX | c.5861C>T (p.Ser1954Leu) c.587C>T (p.Ser196Leu) n.5777C>T c.314C>T (p.Ser105Leu) n.5416C>T | |
| 9 | g.132296975G>C | CA375344331 | SETX | c.5861C>G (p.Ser1954Ter) c.587C>G (p.Ser196Ter) n.5777C>G c.314C>G (p.Ser105Ter) n.5416C>G | |
| 9 | g.132296975G>T | CA375344333 | SETX | c.5861C>A (p.Ser1954Ter) c.587C>A (p.Ser196Ter) n.5777C>A c.314C>A (p.Ser105Ter) n.5416C>A | |
| 9 | g.132296976A>C | CA375344337 | SETX | c.5860T>G (p.Ser1954Ala) c.586T>G (p.Ser196Ala) n.5776T>G c.313T>G (p.Ser105Ala) n.5415T>G | |
| 9 | g.132296976A>G | CA375344339 | SETX | c.5860T>C (p.Ser1954Pro) c.586T>C (p.Ser196Pro) n.5776T>C c.313T>C (p.Ser105Pro) n.5415T>C | |
| 9 | g.132296976A>T | CA375344343 | SETX | c.5860T>A (p.Ser1954Thr) c.586T>A (p.Ser196Thr) n.5776T>A c.313T>A (p.Ser105Thr) n.5415T>A | |
| 9 | g.132296977T>A | CA467428516 | SETX | c.5859A>T (p.Pro1953=) c.585A>T (p.Pro195=) n.5775A>T c.312A>T (p.Pro104=) n.5414A>T | |
| 9 | g.132296977T>C | CA467428517 | SETX | c.5859A>G (p.Pro1953=) c.585A>G (p.Pro195=) n.5775A>G c.312A>G (p.Pro104=) n.5414A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296977T>G | CA467428518 | SETX | c.5859A>C (p.Pro1953=) c.585A>C (p.Pro195=) n.5775A>C c.312A>C (p.Pro104=) n.5414A>C | |
| 9 | g.132296977T= | CA1882092119 | SETX | c.5859A= (p.Pro1953=) c.585A= (p.Pro195=) n.5775A= c.312A= (p.Pro104=) n.5414A= | |
| 9 | g.132296978G>A | CA5296884 | SETX | c.5858C>T (p.Pro1953Leu) c.584C>T (p.Pro195Leu) n.5774C>T c.311C>T (p.Pro104Leu) n.5413C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296978G>C | CA375344345 | SETX | c.5858C>G (p.Pro1953Arg) c.584C>G (p.Pro195Arg) n.5774C>G c.311C>G (p.Pro104Arg) n.5413C>G | |
| 9 | g.132296978G= | CA1882092123 | SETX | c.5858C= (p.Pro1953=) c.584C= (p.Pro195=) n.5774C= c.311C= (p.Pro104=) n.5413C= | |
| 9 | g.132296978G>T | CA375344346 | SETX | c.5858C>A (p.Pro1953Gln) c.584C>A (p.Pro195Gln) n.5774C>A c.311C>A (p.Pro104Gln) n.5413C>A | |
| 9 | g.132296979G>A | CA375344347 | SETX | c.5857C>T (p.Pro1953Ser) c.583C>T (p.Pro195Ser) n.5773C>T c.310C>T (p.Pro104Ser) n.5412C>T | dbSNP |
| 9 | g.132296979G>C | CA375344348 | SETX | c.5857C>G (p.Pro1953Ala) c.583C>G (p.Pro195Ala) n.5773C>G c.310C>G (p.Pro104Ala) n.5412C>G | gnomAD v4 |
| 9 | g.132296979G= | CA1882092124 | SETX | c.5857C= (p.Pro1953=) c.583C= (p.Pro195=) n.5773C= c.310C= (p.Pro104=) n.5412C= | |
| 9 | g.132296979G>T | CA375344352 | SETX | c.5857C>A (p.Pro1953Thr) c.583C>A (p.Pro195Thr) n.5773C>A c.310C>A (p.Pro104Thr) n.5412C>A | |
| 9 | g.132296982_132296985del | CA2579601300 | SETX | c.5854_5857del (p.Ser1952HisfsTer8) c.580_583del (p.Ser194HisfsTer8) n.5770_5773del c.307_310del (p.Ser103HisfsTer8) n.5409_5412del | gnomAD v4 |
| 9 | g.132296980T>A | CA467428519 | SETX | c.5856A>T (p.Ser1952=) c.582A>T (p.Ser194=) n.5772A>T c.309A>T (p.Ser103=) n.5411A>T | |
| 9 | g.132296980T>C | CA467428520 | SETX | c.5856A>G (p.Ser1952=) c.582A>G (p.Ser194=) n.5772A>G c.309A>G (p.Ser103=) n.5411A>G | |
| 9 | g.132296980T>G | CA467428521 | SETX | c.5856A>C (p.Ser1952=) c.582A>C (p.Ser194=) n.5772A>C c.309A>C (p.Ser103=) n.5411A>C | |
| 9 | g.132296981del | CA2579601301 | SETX | c.5855del (p.Ser1952TyrfsTer9) c.581del (p.Ser194TyrfsTer9) n.5771del c.308del (p.Ser103TyrfsTer9) n.5410del | |
| 9 | g.132296981G>A | CA375344355 | SETX | c.5855C>T (p.Ser1952Leu) c.581C>T (p.Ser194Leu) n.5771C>T c.308C>T (p.Ser103Leu) n.5410C>T | |
| 9 | g.132296981G>C | CA375344360 | SETX | c.5855C>G (p.Ser1952Ter) c.581C>G (p.Ser194Ter) n.5771C>G c.308C>G (p.Ser103Ter) n.5410C>G | |
| 9 | g.132296981G>T | CA375344357 | SETX | c.5855C>A (p.Ser1952Ter) c.581C>A (p.Ser194Ter) n.5771C>A c.308C>A (p.Ser103Ter) n.5410C>A | |
| 9 | g.132296982A= | CA1882092127 | SETX | c.5854T= (p.Ser1952=) c.580T= (p.Ser194=) n.5770T= c.307T= (p.Ser103=) n.5409T= | |
| 9 | g.132296982A>C | CA375344362 | SETX | c.5854T>G (p.Ser1952Ala) c.580T>G (p.Ser194Ala) n.5770T>G c.307T>G (p.Ser103Ala) n.5409T>G | |
| 9 | g.132296982A>G | CA5296885 | SETX | c.5854T>C (p.Ser1952Pro) c.580T>C (p.Ser194Pro) n.5770T>C c.307T>C (p.Ser103Pro) n.5409T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296982A>T | CA375344364 | SETX | c.5854T>A (p.Ser1952Thr) c.580T>A (p.Ser194Thr) n.5770T>A c.307T>A (p.Ser103Thr) n.5409T>A | |
| 9 | g.132296983G>A | CA467428522 | SETX | c.5853C>T (p.His1951=) c.579C>T (p.His193=) n.5769C>T c.306C>T (p.His102=) n.5408C>T | gnomAD v4 |
| 9 | g.132296983G>C | CA200818944 | SETX | c.5853C>G (p.His1951Gln) c.579C>G (p.His193Gln) n.5769C>G c.306C>G (p.His102Gln) n.5408C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.132296983G= | CA1882092134 | SETX | c.5853C= (p.His1951=) c.579C= (p.His193=) n.5769C= c.306C= (p.His102=) n.5408C= | |
| 9 | g.132296983G>T | CA375344366 | SETX | c.5853C>A (p.His1951Gln) c.579C>A (p.His193Gln) n.5769C>A c.306C>A (p.His102Gln) n.5408C>A | |
| 9 | g.132296983_132296987del | CA2692254069 | SETX | c.5849_5853del (p.Lys1950IlefsTer?) c.575_579del (p.Lys192IlefsTer?) n.5765_5769del c.302_306del (p.Lys101IlefsTer?) n.5404_5408del | gnomAD v4 |
| 9 | g.132296984T>A | CA375344369 | SETX | c.5852A>T (p.His1951Leu) c.578A>T (p.His193Leu) n.5768A>T c.305A>T (p.His102Leu) n.5407A>T | ClinVar |
| 9 | g.132296984T>C | CA5296886 | SETX | c.5852A>G (p.His1951Arg) c.578A>G (p.His193Arg) n.5768A>G c.305A>G (p.His102Arg) n.5407A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296984T>G | CA375344372 | SETX | c.5852A>C (p.His1951Pro) c.578A>C (p.His193Pro) n.5768A>C c.305A>C (p.His102Pro) n.5407A>C | |
| 9 | g.132296984T= | CA1882092140 | SETX | c.5852A= (p.His1951=) c.578A= (p.His193=) n.5768A= c.305A= (p.His102=) n.5407A= | |
| 9 | g.132296985G>A | CA375344381 | SETX | c.5851C>T (p.His1951Tyr) c.577C>T (p.His193Tyr) n.5767C>T c.304C>T (p.His102Tyr) n.5406C>T | |
| 9 | g.132296985G>C | CA375344382 | SETX | c.5851C>G (p.His1951Asp) c.577C>G (p.His193Asp) n.5767C>G c.304C>G (p.His102Asp) n.5406C>G | dbSNP |
| 9 | g.132296985G= | CA1882092141 | SETX | c.5851C= (p.His1951=) c.577C= (p.His193=) n.5767C= c.304C= (p.His102=) n.5406C= | |
| 9 | g.132296985G>T | CA375344384 | SETX | c.5851C>A (p.His1951Asn) c.577C>A (p.His193Asn) n.5767C>A c.304C>A (p.His102Asn) n.5406C>A | |
| 9 | g.132296986T>A | CA375344388 | SETX | c.5850A>T (p.Lys1950Asn) c.576A>T (p.Lys192Asn) n.5766A>T c.303A>T (p.Lys101Asn) n.5405A>T | |
| 9 | g.132296986T>C | CA467428523 | SETX | c.5850A>G (p.Lys1950=) c.576A>G (p.Lys192=) n.5766A>G c.303A>G (p.Lys101=) n.5405A>G | |
| 9 | g.132296986T>G | CA375344394 | SETX | c.5850A>C (p.Lys1950Asn) c.576A>C (p.Lys192Asn) n.5766A>C c.303A>C (p.Lys101Asn) n.5405A>C | |
| 9 | g.132296987T>A | CA375344401 | SETX | c.5849A>T (p.Lys1950Ile) c.575A>T (p.Lys192Ile) n.5765A>T c.302A>T (p.Lys101Ile) n.5404A>T | |
| 9 | g.132296987T>C | CA375344397 | SETX | c.5849A>G (p.Lys1950Arg) c.575A>G (p.Lys192Arg) n.5765A>G c.302A>G (p.Lys101Arg) n.5404A>G | |
| 9 | g.132296987T>G | CA375344400 | SETX | c.5849A>C (p.Lys1950Thr) c.575A>C (p.Lys192Thr) n.5765A>C c.302A>C (p.Lys101Thr) n.5404A>C | |
| 9 | g.132296988T>A | CA375344405 | SETX | c.5848A>T (p.Lys1950Ter) c.574A>T (p.Lys192Ter) n.5764A>T c.301A>T (p.Lys101Ter) n.5403A>T | |
| 9 | g.132296988T>C | CA375344409 | SETX | c.5848A>G (p.Lys1950Glu) c.574A>G (p.Lys192Glu) n.5764A>G c.301A>G (p.Lys101Glu) n.5403A>G | |
| 9 | g.132296988T>G | CA375344424 | SETX | c.5848A>C (p.Lys1950Gln) c.574A>C (p.Lys192Gln) n.5764A>C c.301A>C (p.Lys101Gln) n.5403A>C | |
| 9 | g.132296989C>A | CA467428524 | SETX | c.5847G>T (p.Val1949=) c.573G>T (p.Val191=) n.5763G>T c.300G>T (p.Val100=) n.5402G>T | |
| 9 | g.132296989C>G | CA467428525 | SETX | c.5847G>C (p.Val1949=) c.573G>C (p.Val191=) n.5763G>C c.300G>C (p.Val100=) n.5402G>C | |
| 9 | g.132296989C>T | CA467428526 | SETX | c.5847G>A (p.Val1949=) c.573G>A (p.Val191=) n.5763G>A c.300G>A (p.Val100=) n.5402G>A | |
| 9 | g.132296990A= | CA1882092142 | SETX | c.5846T= (p.Val1949=) c.572T= (p.Val191=) n.5762T= c.299T= (p.Val100=) n.5401T= | |
| 9 | g.132296990A>C | CA375344429 | SETX | c.5846T>G (p.Val1949Gly) c.572T>G (p.Val191Gly) n.5762T>G c.299T>G (p.Val100Gly) n.5401T>G | dbSNP |
| 9 | g.132296990A>G | CA375344431 | SETX | c.5846T>C (p.Val1949Ala) c.572T>C (p.Val191Ala) n.5762T>C c.299T>C (p.Val100Ala) n.5401T>C | |
| 9 | g.132296990A>T | CA375344436 | SETX | c.5846T>A (p.Val1949Glu) c.572T>A (p.Val191Glu) n.5762T>A c.299T>A (p.Val100Glu) n.5401T>A | |
| 9 | g.132296991C>A | CA375344440 | SETX | c.5845G>T (p.Val1949Leu) c.571G>T (p.Val191Leu) n.5761G>T c.298G>T (p.Val100Leu) n.5400G>T | |
| 9 | g.132296991C>G | CA375344446 | SETX | c.5845G>C (p.Val1949Leu) c.571G>C (p.Val191Leu) n.5761G>C c.298G>C (p.Val100Leu) n.5400G>C | |
| 9 | g.132296991C>T | CA375344454 | SETX | c.5845G>A (p.Val1949Met) c.571G>A (p.Val191Met) n.5761G>A c.298G>A (p.Val100Met) n.5400G>A | gnomAD v4 |
| 9 | g.132296992C>A | CA375344458 | SETX | c.5844G>T (p.Met1948Ile) c.570G>T (p.Met190Ile) n.5760G>T c.297G>T (p.Met99Ile) n.5399G>T | |
| 9 | g.132296992C>G | CA375344460 | SETX | c.5844G>C (p.Met1948Ile) c.570G>C (p.Met190Ile) n.5760G>C c.297G>C (p.Met99Ile) n.5399G>C | |
| 9 | g.132296992C>T | CA375344462 | SETX | c.5844G>A (p.Met1948Ile) c.570G>A (p.Met190Ile) n.5760G>A c.297G>A (p.Met99Ile) n.5399G>A | |
| 9 | g.132296993A>C | CA375344472 | SETX | c.5843T>G (p.Met1948Arg) c.569T>G (p.Met190Arg) n.5759T>G c.296T>G (p.Met99Arg) n.5398T>G | |
| 9 | g.132296993A>G | CA375344476 | SETX | c.5843T>C (p.Met1948Thr) c.569T>C (p.Met190Thr) n.5759T>C c.296T>C (p.Met99Thr) n.5398T>C | |
| 9 | g.132296993A>T | CA375344466 | SETX | c.5843T>A (p.Met1948Lys) c.569T>A (p.Met190Lys) n.5759T>A c.296T>A (p.Met99Lys) n.5398T>A | |
| 9 | g.132296994T>A | CA375344483 | SETX | c.5842A>T (p.Met1948Leu) c.568A>T (p.Met190Leu) n.5758A>T c.295A>T (p.Met99Leu) n.5397A>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132296994T>C | CA5296887 | SETX | c.5842A>G (p.Met1948Val) c.568A>G (p.Met190Val) n.5758A>G c.295A>G (p.Met99Val) n.5397A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296994T>G | CA375344487 | SETX | c.5842A>C (p.Met1948Leu) c.568A>C (p.Met190Leu) n.5758A>C c.295A>C (p.Met99Leu) n.5397A>C | |
| 9 | g.132296994T= | CA1882092146 | SETX | c.5842A= (p.Met1948=) c.568A= (p.Met190=) n.5758A= c.295A= (p.Met99=) n.5397A= | |
| 9 | g.132296994_132296995insC | CA2692254070 | SETX | c.5841_5842insG (p.Met1948AspfsTer?) c.567_568insG (p.Met190AspfsTer?) n.5757_5758insG c.294_295insG (p.Met99AspfsTer?) n.5396_5397insG | gnomAD v4 |
| 9 | g.132296995A>C | CA467428527 | SETX | c.5841T>G (p.Ala1947=) c.567T>G (p.Ala189=) n.5757T>G c.294T>G (p.Ala98=) n.5396T>G | |
| 9 | g.132296995A>G | CA467428528 | SETX | c.5841T>C (p.Ala1947=) c.567T>C (p.Ala189=) n.5757T>C c.294T>C (p.Ala98=) n.5396T>C | |
| 9 | g.132296995A>T | CA467428529 | SETX | c.5841T>A (p.Ala1947=) c.567T>A (p.Ala189=) n.5757T>A c.294T>A (p.Ala98=) n.5396T>A | |
| 9 | g.132296995_132296996del | CA2692254071 | SETX | c.5840_5841del (p.Ala1947AspfsTer?) c.566_567del (p.Ala189AspfsTer?) n.5756_5757del c.293_294del (p.Ala98AspfsTer?) n.5395_5396del | gnomAD v4 |
| 9 | g.132296996G>A | CA375344503 | SETX | c.5840C>T (p.Ala1947Val) c.566C>T (p.Ala189Val) n.5756C>T c.293C>T (p.Ala98Val) n.5395C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132296996G>C | CA375344521 | SETX | c.5840C>G (p.Ala1947Gly) c.566C>G (p.Ala189Gly) n.5756C>G c.293C>G (p.Ala98Gly) n.5395C>G | |
| 9 | g.132296996G= | CA1882092147 | SETX | c.5840C= (p.Ala1947=) c.566C= (p.Ala189=) n.5756C= c.293C= (p.Ala98=) n.5395C= | |
| 9 | g.132296996G>T | CA375344506 | SETX | c.5840C>A (p.Ala1947Asp) c.566C>A (p.Ala189Asp) n.5756C>A c.293C>A (p.Ala98Asp) n.5395C>A | |
| 9 | g.132296997C>A | CA375344525 | SETX | c.5839G>T (p.Ala1947Ser) c.565G>T (p.Ala189Ser) n.5755G>T c.292G>T (p.Ala98Ser) n.5394G>T | |
| 9 | g.132296997C= | CA1882092151 | SETX | c.5839G= (p.Ala1947=) c.565G= (p.Ala189=) n.5755G= c.292G= (p.Ala98=) n.5394G= | |
| 9 | g.132296997C>G | CA375344527 | SETX | c.5839G>C (p.Ala1947Pro) c.565G>C (p.Ala189Pro) n.5755G>C c.292G>C (p.Ala98Pro) n.5394G>C | |
| 9 | g.132296997C>T | CA5296888 | SETX | c.5839G>A (p.Ala1947Thr) c.565G>A (p.Ala189Thr) n.5755G>A c.292G>A (p.Ala98Thr) n.5394G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132296998A>C | CA375344537 | SETX | c.5838T>G (p.Tyr1946Ter) c.564T>G (p.Tyr188Ter) n.5754T>G c.291T>G (p.Tyr97Ter) n.5393T>G | |
| 9 | g.132296998A>G | CA467428530 | SETX | c.5838T>C (p.Tyr1946=) c.564T>C (p.Tyr188=) n.5754T>C c.291T>C (p.Tyr97=) n.5393T>C | |
| 9 | g.132296998A>T | CA375344541 | SETX | c.5838T>A (p.Tyr1946Ter) c.564T>A (p.Tyr188Ter) n.5754T>A c.291T>A (p.Tyr97Ter) n.5393T>A | |
| 9 | g.132296999T>A | CA200818951 | SETX | c.5837A>T (p.Tyr1946Phe) c.563A>T (p.Tyr188Phe) n.5753A>T c.290A>T (p.Tyr97Phe) n.5392A>T | dbSNP gnomAD v4 |
| 9 | g.132296999T>C | CA375344542 | SETX | c.5837A>G (p.Tyr1946Cys) c.563A>G (p.Tyr188Cys) n.5753A>G c.290A>G (p.Tyr97Cys) n.5392A>G | gnomAD v4 |
| 9 | g.132296999T>G | CA375344545 | SETX | c.5837A>C (p.Tyr1946Ser) c.563A>C (p.Tyr188Ser) n.5753A>C c.290A>C (p.Tyr97Ser) n.5392A>C | |
| 9 | g.132296999T= | CA1882092161 | SETX | c.5837A= (p.Tyr1946=) c.563A= (p.Tyr188=) n.5753A= c.290A= (p.Tyr97=) n.5392A= | |
| 9 | g.132297000A>C | CA375344549 | SETX | c.5836T>G (p.Tyr1946Asp) c.562T>G (p.Tyr188Asp) n.5752T>G c.289T>G (p.Tyr97Asp) n.5391T>G | |
| 9 | g.132297000A>G | CA375344551 | SETX | c.5836T>C (p.Tyr1946His) c.562T>C (p.Tyr188His) n.5752T>C c.289T>C (p.Tyr97His) n.5391T>C | |
| 9 | g.132297000A>T | CA375344553 | SETX | c.5836T>A (p.Tyr1946Asn) c.562T>A (p.Tyr188Asn) n.5752T>A c.289T>A (p.Tyr97Asn) n.5391T>A | |
| 9 | g.132297001T>A | CA467428531 | SETX | c.5835A>T (p.Ala1945=) c.561A>T (p.Ala187=) n.5751A>T c.288A>T (p.Ala96=) n.5390A>T | |
| 9 | g.132297001T>C | CA467428532 | SETX | c.5835A>G (p.Ala1945=) c.561A>G (p.Ala187=) n.5751A>G c.288A>G (p.Ala96=) n.5390A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132297001T>G | CA467428533 | SETX | c.5835A>C (p.Ala1945=) c.561A>C (p.Ala187=) n.5751A>C c.288A>C (p.Ala96=) n.5390A>C | |
| 9 | g.132297001T= | CA1882092162 | SETX | c.5835A= (p.Ala1945=) c.561A= (p.Ala187=) n.5751A= c.288A= (p.Ala96=) n.5390A= | |
| 9 | g.132297002G>A | CA200818955 | SETX | c.5834C>T (p.Ala1945Val) c.560C>T (p.Ala187Val) n.5750C>T c.287C>T (p.Ala96Val) n.5389C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132297002G>C | CA375344559 | SETX | c.5834C>G (p.Ala1945Gly) c.560C>G (p.Ala187Gly) n.5750C>G c.287C>G (p.Ala96Gly) n.5389C>G | |
| 9 | g.132297002G= | CA1882092166 | SETX | c.5834C= (p.Ala1945=) c.560C= (p.Ala187=) n.5750C= c.287C= (p.Ala96=) n.5389C= | |
| 9 | g.132297002G>T | CA375344558 | SETX | c.5834C>A (p.Ala1945Glu) c.560C>A (p.Ala187Glu) n.5750C>A c.287C>A (p.Ala96Glu) n.5389C>A | |
| 9 | g.132297003C>A | CA375344560 | SETX | c.5833G>T (p.Ala1945Ser) c.559G>T (p.Ala187Ser) n.5749G>T c.286G>T (p.Ala96Ser) n.5388G>T | |
| 9 | g.132297003C= | CA1882092167 | SETX | c.5833G= (p.Ala1945=) c.559G= (p.Ala187=) n.5749G= c.286G= (p.Ala96=) n.5388G= | |
| 9 | g.132297003C>G | CA200818962 | SETX | c.5833G>C (p.Ala1945Pro) c.559G>C (p.Ala187Pro) n.5749G>C c.286G>C (p.Ala96Pro) n.5388G>C | ClinVar dbSNP |
| 9 | g.132297003C>T | CA375344561 | SETX | c.5833G>A (p.Ala1945Thr) c.559G>A (p.Ala187Thr) n.5749G>A c.286G>A (p.Ala96Thr) n.5388G>A | COSMIC COSMIC |
| 9 | g.132297004A>C | CA467428535 | SETX | c.5832T>G (p.Thr1944=) c.558T>G (p.Thr186=) n.5748T>G c.285T>G (p.Thr95=) n.5387T>G | |
| 9 | g.132297004A>G | CA467428536 | SETX | c.5832T>C (p.Thr1944=) c.558T>C (p.Thr186=) n.5748T>C c.285T>C (p.Thr95=) n.5387T>C | gnomAD v4 |
| 9 | g.132297004A>T | CA467428534 | SETX | c.5832T>A (p.Thr1944=) c.558T>A (p.Thr186=) n.5748T>A c.285T>A (p.Thr95=) n.5387T>A | |
| 9 | g.132297005G>A | CA375344562 | SETX | c.5831C>T (p.Thr1944Ile) c.557C>T (p.Thr186Ile) n.5747C>T c.284C>T (p.Thr95Ile) n.5386C>T | |
| 9 | g.132297005G>C | CA375344563 | SETX | c.5831C>G (p.Thr1944Ser) c.557C>G (p.Thr186Ser) n.5747C>G c.284C>G (p.Thr95Ser) n.5386C>G | |
| 9 | g.132297005G>T | CA375344564 | SETX | c.5831C>A (p.Thr1944Asn) c.557C>A (p.Thr186Asn) n.5747C>A c.284C>A (p.Thr95Asn) n.5386C>A | |
| 9 | g.132297005_132297015delinsGTTTCTATTGC | CA1882092169 | SETX | c.5821_5831delinsGCAATAGAAAC (p.Ala1941=) c.547_557delinsGCAATAGAAAC (p.Ala183=) n.5737_5747delinsGCAATAGAAAC c.274_284delinsGCAATAGAAAC (p.Ala92=) n.5376_5386delinsGCAATAGAAAC | |
| 9 | g.132297006T>A | CA375344567 | SETX | c.5830A>T (p.Thr1944Ser) c.556A>T (p.Thr186Ser) n.5746A>T c.283A>T (p.Thr95Ser) n.5385A>T | |
| 9 | g.132297006T>C | CA375344568 | SETX | c.5830A>G (p.Thr1944Ala) c.556A>G (p.Thr186Ala) n.5746A>G c.283A>G (p.Thr95Ala) n.5385A>G | |
| 9 | g.132297006T>G | CA375344571 | SETX | c.5830A>C (p.Thr1944Pro) c.556A>C (p.Thr186Pro) n.5746A>C c.283A>C (p.Thr95Pro) n.5385A>C | |
| 9 | g.132297011_132297020del | CA276162 | SETX | c.5821_5830del (p.Ala1941LeufsTer6) c.547_556del (p.Ala183LeufsTer6) n.5737_5746del c.274_283del (p.Ala92LeufsTer6) n.5376_5385del | ClinVar dbSNP |
| 9 | g.132297007T>A | CA375344581 | SETX | c.5829A>T (p.Glu1943Asp) c.555A>T (p.Glu185Asp) n.5745A>T c.282A>T (p.Glu94Asp) n.5384A>T | |
| 9 | g.132297007T>C | CA467428537 | SETX | c.5829A>G (p.Glu1943=) c.555A>G (p.Glu185=) n.5745A>G c.282A>G (p.Glu94=) n.5384A>G | |
| 9 | g.132297007T>G | CA375344584 | SETX | c.5829A>C (p.Glu1943Asp) c.555A>C (p.Glu185Asp) n.5745A>C c.282A>C (p.Glu94Asp) n.5384A>C | |
| 9 | g.132297008T>A | CA375344587 | SETX | c.5828A>T (p.Glu1943Val) c.554A>T (p.Glu185Val) n.5744A>T c.281A>T (p.Glu94Val) n.5383A>T | |
| 9 | g.132297008T>C | CA375344586 | SETX | c.5828A>G (p.Glu1943Gly) c.554A>G (p.Glu185Gly) n.5744A>G c.281A>G (p.Glu94Gly) n.5383A>G | |
| 9 | g.132297008T>G | CA375344585 | SETX | c.5828A>C (p.Glu1943Ala) c.554A>C (p.Glu185Ala) n.5744A>C c.281A>C (p.Glu94Ala) n.5383A>C | |
| 9 | g.132297009C>A | CA375344591 | SETX | c.5827G>T (p.Glu1943Ter) c.553G>T (p.Glu185Ter) n.5743G>T c.280G>T (p.Glu94Ter) n.5382G>T | |
| 9 | g.132297009C>G | CA375344588 | SETX | c.5827G>C (p.Glu1943Gln) c.553G>C (p.Glu185Gln) n.5743G>C c.280G>C (p.Glu94Gln) n.5382G>C | |
| 9 | g.132297009C>T | CA375344589 | SETX | c.5827G>A (p.Glu1943Lys) c.553G>A (p.Glu185Lys) n.5743G>A c.280G>A (p.Glu94Lys) n.5382G>A | |
| 9 | g.132297010T>A | CA467428538 | SETX | c.5826A>T (p.Ile1942=) c.552A>T (p.Ile184=) n.5742A>T c.279A>T (p.Ile93=) n.5381A>T | |
| 9 | g.132297010T>C | CA200818995 | SETX | c.5826A>G (p.Ile1942Met) c.552A>G (p.Ile184Met) n.5742A>G c.279A>G (p.Ile93Met) n.5381A>G | dbSNP |
| 9 | g.132297010T>G | CA467428539 | SETX | c.5826A>C (p.Ile1942=) c.552A>C (p.Ile184=) n.5742A>C c.279A>C (p.Ile93=) n.5381A>C | |
| 9 | g.132297010T= | CA1882092171 | SETX | c.5826A= (p.Ile1942=) c.552A= (p.Ile184=) n.5742A= c.279A= (p.Ile93=) n.5381A= | |
| 9 | g.132297011A= | CA1882092183 | SETX | c.5825T= (p.Ile1942=) c.551T= (p.Ile184=) n.5741T= c.278T= (p.Ile93=) n.5380T= | |
| 9 | g.132297011A>C | CA375344597 | SETX | c.5825T>G (p.Ile1942Arg) c.551T>G (p.Ile184Arg) n.5741T>G c.278T>G (p.Ile93Arg) n.5380T>G | |
| 9 | g.132297011A>G | CA5296889 | SETX | c.5825T>C (p.Ile1942Thr) c.551T>C (p.Ile184Thr) n.5741T>C c.278T>C (p.Ile93Thr) n.5380T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132297011A>T | CA375344609 | SETX | c.5825T>A (p.Ile1942Lys) c.551T>A (p.Ile184Lys) n.5741T>A c.278T>A (p.Ile93Lys) n.5380T>A | |
| 9 | g.132297012T>A | CA375344611 | SETX | c.5824A>T (p.Ile1942Leu) c.550A>T (p.Ile184Leu) n.5740A>T c.277A>T (p.Ile93Leu) n.5379A>T | |
| 9 | g.132297012T>C | CA375344614 | SETX | c.5824A>G (p.Ile1942Val) c.550A>G (p.Ile184Val) n.5740A>G c.277A>G (p.Ile93Val) n.5379A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.132297012T>G | CA375344618 | SETX | c.5824A>C (p.Ile1942Leu) c.550A>C (p.Ile184Leu) n.5740A>C c.277A>C (p.Ile93Leu) n.5379A>C | |
| 9 | g.132297012T= | CA1882092184 | SETX | c.5824A= (p.Ile1942=) c.550A= (p.Ile184=) n.5740A= c.277A= (p.Ile93=) n.5379A= | |
| 9 | g.132297013T>A | CA467428540 | SETX | c.5823A>T (p.Ala1941=) c.549A>T (p.Ala183=) n.5739A>T c.276A>T (p.Ala92=) n.5378A>T | |
| 9 | g.132297013T>C | CA467428542 | SETX | c.5823A>G (p.Ala1941=) c.549A>G (p.Ala183=) n.5739A>G c.276A>G (p.Ala92=) n.5378A>G | |
| 9 | g.132297013T>G | CA467428541 | SETX | c.5823A>C (p.Ala1941=) c.549A>C (p.Ala183=) n.5739A>C c.276A>C (p.Ala92=) n.5378A>C | |
| 9 | g.132297014G>A | CA375344619 | SETX | c.5822C>T (p.Ala1941Val) c.548C>T (p.Ala183Val) n.5738C>T c.275C>T (p.Ala92Val) n.5377C>T | gnomAD v4 |
| 9 | g.132297014G>C | CA375344620 | SETX | c.5822C>G (p.Ala1941Gly) c.548C>G (p.Ala183Gly) n.5738C>G c.275C>G (p.Ala92Gly) n.5377C>G | |
| 9 | g.132297014G>T | CA375344621 | SETX | c.5822C>A (p.Ala1941Glu) c.548C>A (p.Ala183Glu) n.5738C>A c.275C>A (p.Ala92Glu) n.5377C>A | |
| 9 | g.132297015C>A | CA375344626 | SETX | c.5821G>T (p.Ala1941Ser) c.547G>T (p.Ala183Ser) n.5737G>T c.274G>T (p.Ala92Ser) n.5376G>T | gnomAD v4 |
| 9 | g.132297015C= | CA1882092185 | SETX | c.5821G= (p.Ala1941=) c.547G= (p.Ala183=) n.5737G= c.274G= (p.Ala92=) n.5376G= | |
| 9 | g.132297015C>G | CA375344624 | SETX | c.5821G>C (p.Ala1941Pro) c.547G>C (p.Ala183Pro) n.5737G>C c.274G>C (p.Ala92Pro) n.5376G>C | |
| 9 | g.132297015C>T | CA5296890 | SETX | c.5821G>A (p.Ala1941Thr) c.547G>A (p.Ala183Thr) n.5737G>A c.274G>A (p.Ala92Thr) n.5376G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132297016T>A | CA375344628 | SETX | c.5820A>T (p.Lys1940Asn) c.546A>T (p.Lys182Asn) n.5736A>T c.273A>T (p.Lys91Asn) n.5375A>T | |
| 9 | g.132297016T>C | CA467428543 | SETX | c.5820A>G (p.Lys1940=) c.546A>G (p.Lys182=) n.5736A>G c.273A>G (p.Lys91=) n.5375A>G | |
| 9 | g.132297016T>G | CA375344632 | SETX | c.5820A>C (p.Lys1940Asn) c.546A>C (p.Lys182Asn) n.5736A>C c.273A>C (p.Lys91Asn) n.5375A>C | |
| 9 | g.132297018del | CA2580079874 | SETX | c.5820del (p.Ala1941GlnfsTer2) c.546del (p.Ala183GlnfsTer2) n.5736del c.273del (p.Ala92GlnfsTer2) n.5375del | ClinVar |
| 9 | g.132297017T>A | CA375344634 | SETX | c.5819A>T (p.Lys1940Ile) c.545A>T (p.Lys182Ile) n.5735A>T c.272A>T (p.Lys91Ile) n.5374A>T | |
| 9 | g.132297017T>C | CA375344635 | SETX | c.5819A>G (p.Lys1940Arg) c.545A>G (p.Lys182Arg) n.5735A>G c.272A>G (p.Lys91Arg) n.5374A>G | |
| 9 | g.132297017T>G | CA375344636 | SETX | c.5819A>C (p.Lys1940Thr) c.545A>C (p.Lys182Thr) n.5735A>C c.272A>C (p.Lys91Thr) n.5374A>C | gnomAD v4 |
| 9 | g.132297018T>A | CA375344637 | SETX | c.5818A>T (p.Lys1940Ter) c.544A>T (p.Lys182Ter) n.5734A>T c.271A>T (p.Lys91Ter) n.5373A>T | |
| 9 | g.132297018T>C | CA375344638 | SETX | c.5818A>G (p.Lys1940Glu) c.544A>G (p.Lys182Glu) n.5734A>G c.271A>G (p.Lys91Glu) n.5373A>G | |
| 9 | g.132297018T>G | CA375344645 | SETX | c.5818A>C (p.Lys1940Gln) c.544A>C (p.Lys182Gln) n.5734A>C c.271A>C (p.Lys91Gln) n.5373A>C | |
| 9 | g.132297019C>A | CA375344647 | SETX | c.5817G>T (p.Lys1939Asn) c.543G>T (p.Lys181Asn) n.5733G>T c.270G>T (p.Lys90Asn) n.5372G>T | |
| 9 | g.132297019C>G | CA375344649 | SETX | c.5817G>C (p.Lys1939Asn) c.543G>C (p.Lys181Asn) n.5733G>C c.270G>C (p.Lys90Asn) n.5372G>C | |
| 9 | g.132297019C>T | CA467428544 | SETX | c.5817G>A (p.Lys1939=) c.543G>A (p.Lys181=) n.5733G>A c.270G>A (p.Lys90=) n.5372G>A | |
| 9 | g.132297020T>A | CA375344650 | SETX | c.5816A>T (p.Lys1939Met) c.542A>T (p.Lys181Met) n.5732A>T c.269A>T (p.Lys90Met) n.5371A>T | |
| 9 | g.132297020T>C | CA375344651 | SETX | c.5816A>G (p.Lys1939Arg) c.542A>G (p.Lys181Arg) n.5732A>G c.269A>G (p.Lys90Arg) n.5371A>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132297020T>G | CA375344655 | SETX | c.5816A>C (p.Lys1939Thr) c.542A>C (p.Lys181Thr) n.5732A>C c.269A>C (p.Lys90Thr) n.5371A>C | |
| 9 | g.132297020T= | CA1882092189 | SETX | c.5816A= (p.Lys1939=) c.542A= (p.Lys181=) n.5732A= c.269A= (p.Lys90=) n.5371A= | |
| 9 | g.132297023del | CA2692254072 | SETX | c.5816del (p.Lys1939ArgfsTer4) c.542del (p.Lys181ArgfsTer4) n.5732del c.269del (p.Lys90ArgfsTer4) n.5371del | gnomAD v4 |
| 9 | g.132297021T>A | CA375344666 | SETX | c.5815A>T (p.Lys1939Ter) c.541A>T (p.Lys181Ter) n.5731A>T c.268A>T (p.Lys90Ter) n.5370A>T | |
| 9 | g.132297021T>C | CA375344670 | SETX | c.5815A>G (p.Lys1939Glu) c.541A>G (p.Lys181Glu) n.5731A>G c.268A>G (p.Lys90Glu) n.5370A>G | |
| 9 | g.132297021T>G | CA375344663 | SETX | c.5815A>C (p.Lys1939Gln) c.541A>C (p.Lys181Gln) n.5731A>C c.268A>C (p.Lys90Gln) n.5370A>C | |
| 9 | g.132297022T>A | CA375344677 | SETX | c.5814A>T (p.Gln1938His) c.540A>T (p.Gln180His) n.5730A>T c.267A>T (p.Gln89His) n.5369A>T | |
| 9 | g.132297022T>C | CA5296891 | SETX | c.5814A>G (p.Gln1938=) c.540A>G (p.Gln180=) n.5730A>G c.267A>G (p.Gln89=) n.5369A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132297022T>G | CA375344678 | SETX | c.5814A>C (p.Gln1938His) c.540A>C (p.Gln180His) n.5730A>C c.267A>C (p.Gln89His) n.5369A>C | gnomAD v4 |
| 9 | g.132297022T= | CA1882092191 | SETX | c.5814A= (p.Gln1938=) c.540A= (p.Gln180=) n.5730A= c.267A= (p.Gln89=) n.5369A= | |
| 9 | g.132297023T>A | CA375344681 | SETX | c.5813A>T (p.Gln1938Leu) c.539A>T (p.Gln180Leu) n.5729A>T c.266A>T (p.Gln89Leu) n.5368A>T | |
| 9 | g.132297023T>C | CA375344688 | SETX | c.5813A>G (p.Gln1938Arg) c.539A>G (p.Gln180Arg) n.5729A>G c.266A>G (p.Gln89Arg) n.5368A>G | dbSNP |
| 9 | g.132297023T>G | CA375344690 | SETX | c.5813A>C (p.Gln1938Pro) c.539A>C (p.Gln180Pro) n.5729A>C c.266A>C (p.Gln89Pro) n.5368A>C | |
| 9 | g.132297024G>A | CA375344694 | SETX | c.5812C>T (p.Gln1938Ter) c.538C>T (p.Gln180Ter) n.5728C>T c.265C>T (p.Gln89Ter) n.5367C>T | |
| 9 | g.132297024G>C | CA375344695 | SETX | c.5812C>G (p.Gln1938Glu) c.538C>G (p.Gln180Glu) n.5728C>G c.265C>G (p.Gln89Glu) n.5367C>G | |
| 9 | g.132297024G>T | CA375344696 | SETX | c.5812C>A (p.Gln1938Lys) c.538C>A (p.Gln180Lys) n.5728C>A c.265C>A (p.Gln89Lys) n.5367C>A | gnomAD v4 |
| 9 | g.132297025A= | CA1882092194 | SETX | c.5811T= (p.Asp1937=) c.537T= (p.Asp179=) n.5727T= c.264T= (p.Asp88=) n.5366T= | |
| 9 | g.132297025A>C | CA375344697 | SETX | c.5811T>G (p.Asp1937Glu) c.537T>G (p.Asp179Glu) n.5727T>G c.264T>G (p.Asp88Glu) n.5366T>G | dbSNP |
| 9 | g.132297025A>G | CA148727 | SETX | c.5811T>C (p.Asp1937=) c.537T>C (p.Asp179=) n.5727T>C c.264T>C (p.Asp88=) n.5366T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.132297025A>T | CA375344699 | SETX | c.5811T>A (p.Asp1937Glu) c.537T>A (p.Asp179Glu) n.5727T>A c.264T>A (p.Asp88Glu) n.5366T>A | dbSNP gnomAD v4 |
| 9 | g.132297025_132297027delinsATC | CA1882092193 | SETX | c.5809_5811delinsGAT (p.Asp1937=) c.535_537delinsGAT (p.Asp179=) n.5725_5727delinsGAT c.262_264delinsGAT (p.Asp88=) n.5364_5366delinsGAT | |
| 9 | g.132297025_132297027delinsGTA | CA1882092192 | SETX | c.5809_5811delinsTAC (p.Asp1937Tyr) c.535_537delinsTAC (p.Asp179Tyr) n.5725_5727delinsTAC c.262_264delinsTAC (p.Asp88Tyr) n.5364_5366delinsTAC | ClinVar dbSNP |
| 9 | g.132297026T>A | CA375344701 | SETX | c.5810A>T (p.Asp1937Val) c.536A>T (p.Asp179Val) n.5726A>T c.263A>T (p.Asp88Val) n.5365A>T | dbSNP gnomAD v2 |
| 9 | g.132297026T>C | CA375344702 | SETX | c.5810A>G (p.Asp1937Gly) c.536A>G (p.Asp179Gly) n.5726A>G c.263A>G (p.Asp88Gly) n.5365A>G | |
| 9 | g.132297026T>G | CA375344703 | SETX | c.5810A>C (p.Asp1937Ala) c.536A>C (p.Asp179Ala) n.5726A>C c.263A>C (p.Asp88Ala) n.5365A>C | |
| 9 | g.132297026T= | CA1882092209 | SETX | c.5810A= (p.Asp1937=) c.536A= (p.Asp179=) n.5726A= c.263A= (p.Asp88=) n.5365A= | |
| 9 | g.132297027C>A | CA375344706 | SETX | c.5809G>T (p.Asp1937Tyr) c.535G>T (p.Asp179Tyr) n.5725G>T c.262G>T (p.Asp88Tyr) n.5364G>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.132297027C= | CA1882092211 | SETX | c.5809G= (p.Asp1937=) c.535G= (p.Asp179=) n.5725G= c.262G= (p.Asp88=) n.5364G= | |
| 9 | g.132297027C>G | CA375344704 | SETX | c.5809G>C (p.Asp1937His) c.535G>C (p.Asp179His) n.5725G>C c.262G>C (p.Asp88His) n.5364G>C | |
| 9 | g.132297027C>T | CA375344705 | SETX | c.5809G>A (p.Asp1937Asn) c.535G>A (p.Asp179Asn) n.5725G>A c.262G>A (p.Asp88Asn) n.5364G>A | |
| 9 | g.132297028T>A | CA375344709 | SETX | c.5808A>T (p.Glu1936Asp) c.534A>T (p.Glu178Asp) n.5724A>T c.261A>T (p.Glu87Asp) n.5363A>T | |
| 9 | g.132297028T>C | CA467428545 | SETX | c.5808A>G (p.Glu1936=) c.534A>G (p.Glu178=) n.5724A>G c.261A>G (p.Glu87=) n.5363A>G | |
| 9 | g.132297028T>G | CA375344711 | SETX | c.5808A>C (p.Glu1936Asp) c.534A>C (p.Glu178Asp) n.5724A>C c.261A>C (p.Glu87Asp) n.5363A>C | |
| 9 | g.132297029T>A | CA375344715 | SETX | c.5807A>T (p.Glu1936Val) c.533A>T (p.Glu178Val) n.5723A>T c.260A>T (p.Glu87Val) n.5362A>T | |
| 9 | g.132297029T>C | CA375344719 | SETX | c.5807A>G (p.Glu1936Gly) c.533A>G (p.Glu178Gly) n.5723A>G c.260A>G (p.Glu87Gly) n.5362A>G | |
| 9 | g.132297029T>G | CA375344729 | SETX | c.5807A>C (p.Glu1936Ala) c.533A>C (p.Glu178Ala) n.5723A>C c.260A>C (p.Glu87Ala) n.5362A>C | |
| 9 | g.132297030C>A | CA375344732 | SETX | c.5806G>T (p.Glu1936Ter) c.532G>T (p.Glu178Ter) n.5722G>T c.259G>T (p.Glu87Ter) n.5361G>T | |
| 9 | g.132297030C>G | CA375344735 | SETX | c.5806G>C (p.Glu1936Gln) c.532G>C (p.Glu178Gln) n.5722G>C c.259G>C (p.Glu87Gln) n.5361G>C | |
| 9 | g.132297030C>T | CA375344737 | SETX | c.5806G>A (p.Glu1936Lys) c.532G>A (p.Glu178Lys) n.5722G>A c.259G>A (p.Glu87Lys) n.5361G>A | |
| 9 | g.132297031A= | CA1882092212 | SETX | c.5805T= (p.Asn1935=) c.531T= (p.Asn177=) n.5721T= c.258T= (p.Asn86=) n.5360T= | |
| 9 | g.132297031A>C | CA375344738 | SETX | c.5805T>G (p.Asn1935Lys) c.531T>G (p.Asn177Lys) n.5721T>G c.258T>G (p.Asn86Lys) n.5360T>G | |
| 9 | g.132297031A>G | CA467428546 | SETX | c.5805T>C (p.Asn1935=) c.531T>C (p.Asn177=) n.5721T>C c.258T>C (p.Asn86=) n.5360T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132297031A>T | CA375344739 | SETX | c.5805T>A (p.Asn1935Lys) c.531T>A (p.Asn177Lys) n.5721T>A c.258T>A (p.Asn86Lys) n.5360T>A | |
| 9 | g.132297032T>A | CA375344745 | SETX | c.5804A>T (p.Asn1935Ile) c.530A>T (p.Asn177Ile) n.5720A>T c.257A>T (p.Asn86Ile) n.5359A>T | COSMIC COSMIC |
| 9 | g.132297032T>C | CA5296892 | SETX | c.5804A>G (p.Asn1935Ser) c.530A>G (p.Asn177Ser) n.5720A>G c.257A>G (p.Asn86Ser) n.5359A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.132297032T>G | CA375344740 | SETX | c.5804A>C (p.Asn1935Thr) c.530A>C (p.Asn177Thr) n.5720A>C c.257A>C (p.Asn86Thr) n.5359A>C | |
| 9 | g.132297032T= | CA1882092215 | SETX | c.5804A= (p.Asn1935=) c.530A= (p.Asn177=) n.5720A= c.257A= (p.Asn86=) n.5359A= | |
| 9 | g.132297033T>A | CA375344757 | SETX | c.5803A>T (p.Asn1935Tyr) c.529A>T (p.Asn177Tyr) n.5719A>T c.256A>T (p.Asn86Tyr) n.5358A>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.132297033T>C | CA375344759 | SETX | c.5803A>G (p.Asn1935Asp) c.529A>G (p.Asn177Asp) n.5719A>G c.256A>G (p.Asn86Asp) n.5358A>G | ClinVar dbSNP gnomAD v4 |
| 9 | g.132297033T>G | CA375344761 | SETX | c.5803A>C (p.Asn1935His) c.529A>C (p.Asn177His) n.5719A>C c.256A>C (p.Asn86His) n.5358A>C | |
| 9 | g.132297033T= | CA1882092216 | SETX | c.5803A= (p.Asn1935=) c.529A= (p.Asn177=) n.5719A= c.256A= (p.Asn86=) n.5358A= | |
| 9 | g.132297034G>A | CA467428547 | SETX | c.5802C>T (p.Phe1934=) c.528C>T (p.Phe176=) n.5718C>T c.255C>T (p.Phe85=) n.5357C>T | |
| 9 | g.132297034G>C | CA375344764 | SETX | c.5802C>G (p.Phe1934Leu) c.528C>G (p.Phe176Leu) n.5718C>G c.255C>G (p.Phe85Leu) n.5357C>G | |
| 9 | g.132297034G>T | CA375344767 | SETX | c.5802C>A (p.Phe1934Leu) c.528C>A (p.Phe176Leu) n.5718C>A c.255C>A (p.Phe85Leu) n.5357C>A | |
| 9 | g.132297035A>C | CA375344773 | SETX | c.5801T>G (p.Phe1934Cys) c.527T>G (p.Phe176Cys) n.5717T>G c.254T>G (p.Phe85Cys) n.5356T>G | |
| 9 | g.132297035A>G | CA375344775 | SETX | c.5801T>C (p.Phe1934Ser) c.527T>C (p.Phe176Ser) n.5717T>C c.254T>C (p.Phe85Ser) n.5356T>C | |
| 9 | g.132297035A>T | CA375344777 | SETX | c.5801T>A (p.Phe1934Tyr) c.527T>A (p.Phe176Tyr) n.5717T>A c.254T>A (p.Phe85Tyr) n.5356T>A | |
| 9 | g.132297036A>C | CA375344782 | SETX | c.5800T>G (p.Phe1934Val) c.526T>G (p.Phe176Val) n.5716T>G c.253T>G (p.Phe85Val) n.5355T>G | |
| 9 | g.132297036A>G | CA375344791 | SETX | c.5800T>C (p.Phe1934Leu) c.526T>C (p.Phe176Leu) n.5716T>C c.253T>C (p.Phe85Leu) n.5355T>C | |
| 9 | g.132297036A>T | CA375344795 | SETX | c.5800T>A (p.Phe1934Ile) c.526T>A (p.Phe176Ile) n.5716T>A c.253T>A (p.Phe85Ile) n.5355T>A | |
| 9 | g.132297037A>C | CA375344804 | SETX | c.5799T>G (p.Asp1933Glu) c.525T>G (p.Asp175Glu) n.5715T>G c.252T>G (p.Asp84Glu) n.5354T>G | |
| 9 | g.132297037A>G | CA467428548 | SETX | c.5799T>C (p.Asp1933=) c.525T>C (p.Asp175=) n.5715T>C c.252T>C (p.Asp84=) n.5354T>C | |
| 9 | g.132297037A>T | CA375344809 | SETX | c.5799T>A (p.Asp1933Glu) c.525T>A (p.Asp175Glu) n.5715T>A c.252T>A (p.Asp84Glu) n.5354T>A | |
| 9 | g.132297038T>A | CA375344811 | SETX | c.5798A>T (p.Asp1933Val) c.524A>T (p.Asp175Val) n.5714A>T c.251A>T (p.Asp84Val) n.5353A>T | COSMIC COSMIC |
| 9 | g.132297038T>C | CA375344813 | SETX | c.5798A>G (p.Asp1933Gly) c.524A>G (p.Asp175Gly) n.5714A>G c.251A>G (p.Asp84Gly) n.5353A>G | |
| 9 | g.132297038T>G | CA375344812 | SETX | c.5798A>C (p.Asp1933Ala) c.524A>C (p.Asp175Ala) n.5714A>C c.251A>C (p.Asp84Ala) n.5353A>C | |
| 9 | g.132297039C>A | CA375344816 | SETX | c.5797G>T (p.Asp1933Tyr) c.523G>T (p.Asp175Tyr) n.5713G>T c.250G>T (p.Asp84Tyr) n.5352G>T | COSMIC COSMIC |
| 9 | g.132297039C>G | CA375344819 | SETX | c.5797G>C (p.Asp1933His) c.523G>C (p.Asp175His) n.5713G>C c.250G>C (p.Asp84His) n.5352G>C | |
| 9 | g.132297039C>T | CA375344820 | SETX | c.5797G>A (p.Asp1933Asn) c.523G>A (p.Asp175Asn) n.5713G>A c.250G>A (p.Asp84Asn) n.5352G>A | |
| 9 | g.132297040T>A | CA375344823 | SETX | c.5796A>T (p.Arg1932Ser) c.522A>T (p.Arg174Ser) n.5712A>T c.249A>T (p.Arg83Ser) n.5351A>T | |
| 9 | g.132297040T>C | CA200819027 | SETX | c.5796A>G (p.Arg1932=) c.522A>G (p.Arg174=) n.5712A>G c.249A>G (p.Arg83=) n.5351A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.132297040T>G | CA375344839 | SETX | c.5796A>C (p.Arg1932Ser) c.522A>C (p.Arg174Ser) n.5712A>C c.249A>C (p.Arg83Ser) n.5351A>C | |
| 9 | g.132297040T= | CA1882092217 | SETX | c.5796A= (p.Arg1932=) c.522A= (p.Arg174=) n.5712A= c.249A= (p.Arg83=) n.5351A= | |
| 9 | g.132297041C>A | CA375344846 | SETX | c.5795G>T (p.Arg1932Ile) c.521G>T (p.Arg174Ile) n.5711G>T c.248G>T (p.Arg83Ile) n.5350G>T | |
| 9 | g.132297041C>G | CA375344847 | SETX | c.5795G>C (p.Arg1932Thr) c.521G>C (p.Arg174Thr) n.5711G>C c.248G>C (p.Arg83Thr) n.5350G>C | |
| 9 | g.132297041C>T | CA375344853 | SETX | c.5795G>A (p.Arg1932Lys) c.521G>A (p.Arg174Lys) n.5711G>A c.248G>A (p.Arg83Lys) n.5350G>A | |
| 9 | g.132297042T>A | CA375344856 | SETX | c.5794A>T (p.Arg1932Ter) c.520A>T (p.Arg174Ter) n.5710A>T c.247A>T (p.Arg83Ter) n.5349A>T | |
| 9 | g.132297042T>C | CA375344869 | SETX | c.5794A>G (p.Arg1932Gly) c.520A>G (p.Arg174Gly) n.5710A>G c.247A>G (p.Arg83Gly) n.5349A>G | |
| 9 | g.132297042T>G | CA467428549 | SETX | c.5794A>C (p.Arg1932=) c.520A>C (p.Arg174=) n.5710A>C c.247A>C (p.Arg83=) n.5349A>C | dbSNP gnomAD v4 |
| 9 | g.132297042T= | CA1882092218 | SETX | c.5794A= (p.Arg1932=) c.520A= (p.Arg174=) n.5710A= c.247A= (p.Arg83=) n.5349A= | |
| 9 | g.132297042_132297047del | CA2579601302 | SETX | c.5789_5794del (p.Tyr1930Ter) c.515_520del (p.Tyr172Ter) n.5705_5710del c.242_247del (p.Tyr81Ter) n.5344_5349del |