Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.132296891G>A | CA375343622 | SETX | c.5945C>T (p.Thr1982Ile) c.671C>T (p.Thr224Ile) n.5861C>T c.398C>T (p.Thr133Ile) n.5500C>T | |
9 | g.132296891G>C | CA375343623 | SETX | c.5945C>G (p.Thr1982Arg) c.671C>G (p.Thr224Arg) n.5861C>G c.398C>G (p.Thr133Arg) n.5500C>G | |
9 | g.132296891G>T | CA375343624 | SETX | c.5945C>A (p.Thr1982Lys) c.671C>A (p.Thr224Lys) n.5861C>A c.398C>A (p.Thr133Lys) n.5500C>A | |
9 | g.132296892T>A | CA375343625 | SETX | c.5944A>T (p.Thr1982Ser) c.670A>T (p.Thr224Ser) n.5860A>T c.397A>T (p.Thr133Ser) n.5499A>T | |
9 | g.132296892T>C | CA375343626 | SETX | c.5944A>G (p.Thr1982Ala) c.670A>G (p.Thr224Ala) n.5860A>G c.397A>G (p.Thr133Ala) n.5499A>G | |
9 | g.132296892T>G | CA375343627 | SETX | c.5944A>C (p.Thr1982Pro) c.670A>C (p.Thr224Pro) n.5860A>C c.397A>C (p.Thr133Pro) n.5499A>C | |
9 | g.132296893C>A | CA467428456 | SETX | c.5943G>T (p.Leu1981=) c.669G>T (p.Leu223=) n.5859G>T c.396G>T (p.Leu132=) n.5498G>T | |
9 | g.132296893C= | CA1882092024 | SETX | c.5943G= (p.Leu1981=) c.669G= (p.Leu223=) n.5859G= c.396G= (p.Leu132=) n.5498G= | |
9 | g.132296893C>G | CA467428455 | SETX | c.5943G>C (p.Leu1981=) c.669G>C (p.Leu223=) n.5859G>C c.396G>C (p.Leu132=) n.5498G>C | |
9 | g.132296893C>T | CA467428454 | SETX | c.5943G>A (p.Leu1981=) c.669G>A (p.Leu223=) n.5859G>A c.396G>A (p.Leu132=) n.5498G>A | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132296894A= | CA1882092027 | SETX | c.5942T= (p.Leu1981=) c.668T= (p.Leu223=) n.5858T= c.395T= (p.Leu132=) n.5497T= | |
9 | g.132296894A>C | CA5296871 | SETX | c.5942T>G (p.Leu1981Arg) c.668T>G (p.Leu223Arg) n.5858T>G c.395T>G (p.Leu132Arg) n.5497T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132296894A>G | CA375343631 | SETX | c.5942T>C (p.Leu1981Pro) c.668T>C (p.Leu223Pro) n.5858T>C c.395T>C (p.Leu132Pro) n.5497T>C | |
9 | g.132296894A>T | CA375343640 | SETX | c.5942T>A (p.Leu1981Gln) c.668T>A (p.Leu223Gln) n.5858T>A c.395T>A (p.Leu132Gln) n.5497T>A | |
9 | g.132296895G>A | CA5296872 | SETX | c.5941C>T (p.Leu1981=) c.667C>T (p.Leu223=) n.5857C>T c.394C>T (p.Leu132=) n.5496C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132296895G>C | CA375343664 | SETX | c.5941C>G (p.Leu1981Val) c.667C>G (p.Leu223Val) n.5857C>G c.394C>G (p.Leu132Val) n.5496C>G | |
9 | g.132296895G= | CA1882092033 | SETX | c.5941C= (p.Leu1981=) c.667C= (p.Leu223=) n.5857C= c.394C= (p.Leu132=) n.5496C= | |
9 | g.132296895G>T | CA375343645 | SETX | c.5941C>A (p.Leu1981Met) c.667C>A (p.Leu223Met) n.5857C>A c.394C>A (p.Leu132Met) n.5496C>A | |
9 | g.132296896T>A | CA467428457 | SETX | c.5940A>T (p.Leu1980=) c.666A>T (p.Leu222=) n.5856A>T c.393A>T (p.Leu131=) n.5495A>T | |
9 | g.132296896T>C | CA467428458 | SETX | c.5940A>G (p.Leu1980=) c.666A>G (p.Leu222=) n.5856A>G c.393A>G (p.Leu131=) n.5495A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.132296896T>G | CA467428459 | SETX | c.5940A>C (p.Leu1980=) c.666A>C (p.Leu222=) n.5856A>C c.393A>C (p.Leu131=) n.5495A>C | |
9 | g.132296896T= | CA1882092038 | SETX | c.5940A= (p.Leu1980=) c.666A= (p.Leu222=) n.5856A= c.393A= (p.Leu131=) n.5495A= | |
9 | g.132296897A>C | CA375343666 | SETX | c.5939T>G (p.Leu1980Arg) c.665T>G (p.Leu222Arg) n.5855T>G c.392T>G (p.Leu131Arg) n.5494T>G | |
9 | g.132296897A>G | CA375343668 | SETX | c.5939T>C (p.Leu1980Pro) c.665T>C (p.Leu222Pro) n.5855T>C c.392T>C (p.Leu131Pro) n.5494T>C | |
9 | g.132296897A>T | CA375343671 | SETX | c.5939T>A (p.Leu1980Gln) c.665T>A (p.Leu222Gln) n.5855T>A c.392T>A (p.Leu131Gln) n.5494T>A | |
9 | g.132296898G>A | CA200818847 | SETX | c.5938C>T (p.Leu1980=) c.664C>T (p.Leu222=) n.5854C>T c.391C>T (p.Leu131=) n.5493C>T | ClinVar dbSNP gnomAD v4 |
9 | g.132296898G>C | CA375343674 | SETX | c.5938C>G (p.Leu1980Val) c.664C>G (p.Leu222Val) n.5854C>G c.391C>G (p.Leu131Val) n.5493C>G | |
9 | g.132296898G= | CA1882092042 | SETX | c.5938C= (p.Leu1980=) c.664C= (p.Leu222=) n.5854C= c.391C= (p.Leu131=) n.5493C= | |
9 | g.132296898G>T | CA375343676 | SETX | c.5938C>A (p.Leu1980Ile) c.664C>A (p.Leu222Ile) n.5854C>A c.391C>A (p.Leu131Ile) n.5493C>A | |
9 | g.132296899A= | CA1882092045 | SETX | c.5937T= (p.Arg1979=) c.663T= (p.Arg221=) n.5853T= c.390T= (p.Arg130=) n.5492T= | |
9 | g.132296899A>C | CA467428460 | SETX | c.5937T>G (p.Arg1979=) c.663T>G (p.Arg221=) n.5853T>G c.390T>G (p.Arg130=) n.5492T>G | |
9 | g.132296899A>G | CA5296873 | SETX | c.5937T>C (p.Arg1979=) c.663T>C (p.Arg221=) n.5853T>C c.390T>C (p.Arg130=) n.5492T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132296899A>T | CA467428461 | SETX | c.5937T>A (p.Arg1979=) c.663T>A (p.Arg221=) n.5853T>A c.390T>A (p.Arg130=) n.5492T>A | |
9 | g.132296900C>A | CA375343686 | SETX | c.5936G>T (p.Arg1979Leu) c.662G>T (p.Arg221Leu) n.5852G>T c.389G>T (p.Arg130Leu) n.5491G>T | |
9 | g.132296900C= | CA1882092048 | SETX | c.5936G= (p.Arg1979=) c.662G= (p.Arg221=) n.5852G= c.389G= (p.Arg130=) n.5491G= | |
9 | g.132296900C>G | CA375343689 | SETX | c.5936G>C (p.Arg1979Pro) c.662G>C (p.Arg221Pro) n.5852G>C c.389G>C (p.Arg130Pro) n.5491G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.132296900C>T | CA5296874 | SETX | c.5936G>A (p.Arg1979His) c.662G>A (p.Arg221His) n.5852G>A c.389G>A (p.Arg130His) n.5491G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132296901G>A | CA5296875 | SETX | c.5935C>T (p.Arg1979Cys) c.661C>T (p.Arg221Cys) n.5851C>T c.388C>T (p.Arg130Cys) n.5490C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132296901G>C | CA375343699 | SETX | c.5935C>G (p.Arg1979Gly) c.661C>G (p.Arg221Gly) n.5851C>G c.388C>G (p.Arg130Gly) n.5490C>G | |
9 | g.132296901G= | CA1882092049 | SETX | c.5935C= (p.Arg1979=) c.661C= (p.Arg221=) n.5851C= c.388C= (p.Arg130=) n.5490C= | |
9 | g.132296901G>T | CA375343702 | SETX | c.5935C>A (p.Arg1979Ser) c.661C>A (p.Arg221Ser) n.5851C>A c.388C>A (p.Arg130Ser) n.5490C>A | |
9 | g.132296902A>C | CA375343705 | SETX | c.5934T>G (p.Tyr1978Ter) c.660T>G (p.Tyr220Ter) n.5850T>G c.387T>G (p.Tyr129Ter) n.5489T>G | |
9 | g.132296902A>G | CA467428463 | SETX | c.5934T>C (p.Tyr1978=) c.660T>C (p.Tyr220=) n.5850T>C c.387T>C (p.Tyr129=) n.5489T>C | |
9 | g.132296902A>T | CA375343708 | SETX | c.5934T>A (p.Tyr1978Ter) c.660T>A (p.Tyr220Ter) n.5850T>A c.387T>A (p.Tyr129Ter) n.5489T>A | |
9 | g.132296903T>A | CA375343719 | SETX | c.5933A>T (p.Tyr1978Phe) c.659A>T (p.Tyr220Phe) n.5849A>T c.386A>T (p.Tyr129Phe) n.5488A>T | |
9 | g.132296903T>C | CA5296876 | SETX | c.5933A>G (p.Tyr1978Cys) c.659A>G (p.Tyr220Cys) n.5849A>G c.386A>G (p.Tyr129Cys) n.5488A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132296903T>G | CA375343722 | SETX | c.5933A>C (p.Tyr1978Ser) c.659A>C (p.Tyr220Ser) n.5849A>C c.386A>C (p.Tyr129Ser) n.5488A>C | dbSNP |
9 | g.132296903T= | CA1882092050 | SETX | c.5933A= (p.Tyr1978=) c.659A= (p.Tyr220=) n.5849A= c.386A= (p.Tyr129=) n.5488A= | |
9 | g.132296904A>C | CA375343724 | SETX | c.5932T>G (p.Tyr1978Asp) c.658T>G (p.Tyr220Asp) n.5848T>G c.385T>G (p.Tyr129Asp) n.5487T>G | |
9 | g.132296904A>G | CA375343726 | SETX | c.5932T>C (p.Tyr1978His) c.658T>C (p.Tyr220His) n.5848T>C c.385T>C (p.Tyr129His) n.5487T>C | |
9 | g.132296904A>T | CA375343728 | SETX | c.5932T>A (p.Tyr1978Asn) c.658T>A (p.Tyr220Asn) n.5848T>A c.385T>A (p.Tyr129Asn) n.5487T>A | |
9 | g.132296904dup | CA1882092051 | SETX | c.5932dup (p.Tyr1978LeufsTer?) c.658dup (p.Tyr220LeufsTer?) n.5848dup c.385dup (p.Tyr129LeufsTer?) n.5487dup | dbSNP |
9 | g.132296905G>A | CA467428464 | SETX | c.5931C>T (p.Leu1977=) c.657C>T (p.Leu219=) n.5847C>T c.384C>T (p.Leu128=) n.5486C>T | |
9 | g.132296905G>C | CA5296877 | SETX | c.5931C>G (p.Leu1977=) c.657C>G (p.Leu219=) n.5847C>G c.384C>G (p.Leu128=) n.5486C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132296905G= | CA1882092052 | SETX | c.5931C= (p.Leu1977=) c.657C= (p.Leu219=) n.5847C= c.384C= (p.Leu128=) n.5486C= | |
9 | g.132296905G>T | CA467428465 | SETX | c.5931C>A (p.Leu1977=) c.657C>A (p.Leu219=) n.5847C>A c.384C>A (p.Leu128=) n.5486C>A | |
9 | g.132296906A>C | CA375343734 | SETX | c.5930T>G (p.Leu1977Arg) c.656T>G (p.Leu219Arg) n.5846T>G c.383T>G (p.Leu128Arg) n.5485T>G | |
9 | g.132296906A>G | CA375343736 | SETX | c.5930T>C (p.Leu1977Pro) c.656T>C (p.Leu219Pro) n.5846T>C c.383T>C (p.Leu128Pro) n.5485T>C | |
9 | g.132296906A>T | CA375343745 | SETX | c.5930T>A (p.Leu1977His) c.656T>A (p.Leu219His) n.5846T>A c.383T>A (p.Leu128His) n.5485T>A | |
9 | g.132296907G>A | CA252191 | SETX | c.5929C>T (p.Leu1977Phe) c.655C>T (p.Leu219Phe) n.5845C>T c.382C>T (p.Leu128Phe) n.5484C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.132296907G>C | CA375343751 | SETX | c.5929C>G (p.Leu1977Val) c.655C>G (p.Leu219Val) n.5845C>G c.382C>G (p.Leu128Val) n.5484C>G | |
9 | g.132296907G= | CA1882092053 | SETX | c.5929C= (p.Leu1977=) c.655C= (p.Leu219=) n.5845C= c.382C= (p.Leu128=) n.5484C= | |
9 | g.132296907G>T | CA375343754 | SETX | c.5929C>A (p.Leu1977Ile) c.655C>A (p.Leu219Ile) n.5845C>A c.382C>A (p.Leu128Ile) n.5484C>A | |
9 | g.132296908G>A | CA467428466 | SETX | c.5928C>T (p.Leu1976=) c.654C>T (p.Leu218=) n.5844C>T c.381C>T (p.Leu127=) n.5483C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132296908G>C | CA467428467 | SETX | c.5928C>G (p.Leu1976=) c.654C>G (p.Leu218=) n.5844C>G c.381C>G (p.Leu127=) n.5483C>G | gnomAD v4 |
9 | g.132296908G= | CA1882092054 | SETX | c.5928C= (p.Leu1976=) c.654C= (p.Leu218=) n.5844C= c.381C= (p.Leu127=) n.5483C= | |
9 | g.132296908G>T | CA467428468 | SETX | c.5928C>A (p.Leu1976=) c.654C>A (p.Leu218=) n.5844C>A c.381C>A (p.Leu127=) n.5483C>A | |
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 | |
9 | g.132296923T>C | CA467428480 | SETX | c.5913A>G (p.Lys1971=) c.639A>G (p.Lys213=) n.5829A>G c.366A>G (p.Lys122=) n.5468A>G | |
9 | g.132296923T>G | CA375343867 | SETX | c.5913A>C (p.Lys1971Asn) c.639A>C (p.Lys213Asn) n.5829A>C c.366A>C (p.Lys122Asn) n.5468A>C | |
9 | g.132296924T>A | CA375343870 | SETX | c.5912A>T (p.Lys1971Ile) c.638A>T (p.Lys213Ile) n.5828A>T c.365A>T (p.Lys122Ile) n.5467A>T | |
9 | g.132296924T>C | CA375343874 | SETX | c.5912A>G (p.Lys1971Arg) c.638A>G (p.Lys213Arg) n.5828A>G c.365A>G (p.Lys122Arg) n.5467A>G | gnomAD v4 |
9 | g.132296924T>G | CA375343872 | SETX | c.5912A>C (p.Lys1971Thr) c.638A>C (p.Lys213Thr) n.5828A>C c.365A>C (p.Lys122Thr) n.5467A>C | |
9 | g.132296925T>A | CA375343878 | SETX | c.5911A>T (p.Lys1971Ter) c.637A>T (p.Lys213Ter) n.5827A>T c.364A>T (p.Lys122Ter) n.5466A>T | |
9 | g.132296925T>C | CA200818921 | SETX | c.5911A>G (p.Lys1971Glu) c.637A>G (p.Lys213Glu) n.5827A>G c.364A>G (p.Lys122Glu) n.5466A>G | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132296925T>G | CA375343885 | SETX | c.5911A>C (p.Lys1971Gln) c.637A>C (p.Lys213Gln) n.5827A>C c.364A>C (p.Lys122Gln) n.5466A>C | |
9 | g.132296925T= | CA1882092064 | SETX | c.5911A= (p.Lys1971=) c.637A= (p.Lys213=) n.5827A= c.364A= (p.Lys122=) n.5466A= | |
9 | g.132296926T>A | CA467428481 | SETX | c.5910A>T (p.Ser1970=) c.636A>T (p.Ser212=) n.5826A>T c.363A>T (p.Ser121=) n.5465A>T | |
9 | g.132296926T>C | CA467428483 | SETX | c.5910A>G (p.Ser1970=) c.636A>G (p.Ser212=) n.5826A>G c.363A>G (p.Ser121=) n.5465A>G | gnomAD v4 |
9 | g.132296926T>G | CA467428482 | SETX | c.5910A>C (p.Ser1970=) c.636A>C (p.Ser212=) n.5826A>C c.363A>C (p.Ser121=) n.5465A>C | |
9 | g.132296927G>A | CA5296879 | SETX | c.5909C>T (p.Ser1970Leu) c.635C>T (p.Ser212Leu) n.5825C>T c.362C>T (p.Ser121Leu) n.5464C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.132296927G>C | CA375343889 | SETX | c.5909C>G (p.Ser1970Ter) c.635C>G (p.Ser212Ter) n.5825C>G c.362C>G (p.Ser121Ter) n.5464C>G | |
9 | g.132296927G= | CA1882092065 | SETX | c.5909C= (p.Ser1970=) c.635C= (p.Ser212=) n.5825C= c.362C= (p.Ser121=) n.5464C= | |
9 | g.132296927G>T | CA375343891 | SETX | c.5909C>A (p.Ser1970Ter) c.635C>A (p.Ser212Ter) n.5825C>A c.362C>A (p.Ser121Ter) n.5464C>A | gnomAD v4 |
9 | g.132296928A>C | CA375343894 | SETX | c.5908T>G (p.Ser1970Ala) c.634T>G (p.Ser212Ala) n.5824T>G c.361T>G (p.Ser121Ala) n.5463T>G | |
9 | g.132296928A>G | CA375343898 | SETX | c.5908T>C (p.Ser1970Pro) c.634T>C (p.Ser212Pro) n.5824T>C c.361T>C (p.Ser121Pro) n.5463T>C | |
9 | g.132296928A>T | CA375343910 | SETX | c.5908T>A (p.Ser1970Thr) c.634T>A (p.Ser212Thr) n.5824T>A c.361T>A (p.Ser121Thr) n.5463T>A | |
9 | g.132296929T>A | CA375343914 | SETX | c.5907A>T (p.Lys1969Asn) c.633A>T (p.Lys211Asn) n.5823A>T c.360A>T (p.Lys120Asn) n.5462A>T | |
9 | g.132296929T>C | CA467428484 | SETX | c.5907A>G (p.Lys1969=) c.633A>G (p.Lys211=) n.5823A>G c.360A>G (p.Lys120=) n.5462A>G | |
9 | g.132296929T>G | CA375343919 | SETX | c.5907A>C (p.Lys1969Asn) c.633A>C (p.Lys211Asn) n.5823A>C c.360A>C (p.Lys120Asn) n.5462A>C | |
9 | g.132296930T>A | CA375343926 | SETX | c.5906A>T (p.Lys1969Ile) c.632A>T (p.Lys211Ile) n.5822A>T c.359A>T (p.Lys120Ile) n.5461A>T | |
9 | g.132296930T>C | CA375343925 | SETX | c.5906A>G (p.Lys1969Arg) c.632A>G (p.Lys211Arg) n.5822A>G c.359A>G (p.Lys120Arg) n.5461A>G | |
9 | g.132296930T>G | CA375343923 | SETX | c.5906A>C (p.Lys1969Thr) c.632A>C (p.Lys211Thr) n.5822A>C c.359A>C (p.Lys120Thr) n.5461A>C | |
9 | g.132296931T>A | CA375343929 | SETX | c.5905A>T (p.Lys1969Ter) c.631A>T (p.Lys211Ter) n.5821A>T c.358A>T (p.Lys120Ter) n.5460A>T | |
9 | g.132296931T>C | CA375343932 | SETX | c.5905A>G (p.Lys1969Glu) c.631A>G (p.Lys211Glu) n.5821A>G c.358A>G (p.Lys120Glu) n.5460A>G | |
9 | g.132296931T>G | CA375343933 | SETX | c.5905A>C (p.Lys1969Gln) c.631A>C (p.Lys211Gln) n.5821A>C c.358A>C (p.Lys120Gln) n.5460A>C | |
9 | g.132296931T= | CA1882092066 | SETX | c.5905A= (p.Lys1969=) c.631A= (p.Lys211=) n.5821A= c.358A= (p.Lys120=) n.5460A= | |
9 | g.132296931_132296932insGTATATATTTTTTA | CA1882092067 | SETX | c.5904_5905insTAAAAAATATATAC (p.Lys1969Ter) c.630_631insTAAAAAATATATAC (p.Lys211Ter) n.5820_5821insTAAAAAATATATAC c.357_358insTAAAAAATATATAC (p.Lys120Ter) n.5459_5460insTAAAAAATATATAC | dbSNP |
9 | g.132296932T>A | CA467428485 | SETX | c.5904A>T (p.Gly1968=) c.630A>T (p.Gly210=) n.5820A>T c.357A>T (p.Gly119=) n.5459A>T | |
9 | g.132296932T>C | CA467428487 | SETX | c.5904A>G (p.Gly1968=) c.630A>G (p.Gly210=) n.5820A>G c.357A>G (p.Gly119=) n.5459A>G | |
9 | g.132296932T>G | CA467428486 | SETX | c.5904A>C (p.Gly1968=) c.630A>C (p.Gly210=) n.5820A>C c.357A>C (p.Gly119=) n.5459A>C | |
9 | g.132296933_132296935del | CA2692254066 | SETX | c.5902_5904del (p.Gly1968del) c.628_630del (p.Gly210del) n.5818_5820del c.355_357del (p.Gly119del) n.5457_5459del | gnomAD v4 |
9 | g.132296933C>A | CA375343935 | SETX | c.5903G>T (p.Gly1968Val) c.629G>T (p.Gly210Val) n.5819G>T c.356G>T (p.Gly119Val) n.5458G>T | |
9 | g.132296933C>G | CA375343936 | SETX | c.5903G>C (p.Gly1968Ala) c.629G>C (p.Gly210Ala) n.5819G>C c.356G>C (p.Gly119Ala) n.5458G>C | |
9 | g.132296933C>T | CA375343938 | SETX | c.5903G>A (p.Gly1968Glu) c.629G>A (p.Gly210Glu) n.5819G>A c.356G>A (p.Gly119Glu) n.5458G>A | |
9 | g.132296933_132296941del | CA2695211638 | SETX | c.5895_5903del (p.Gly1966_Gly1968del) c.621_629del (p.Gly208_Gly210del) n.5811_5819del c.348_356del (p.Gly117_Gly119del) n.5450_5458del | |
9 | g.132296934C>A | CA375343941 | SETX | c.5902G>T (p.Gly1968Ter) c.628G>T (p.Gly210Ter) n.5818G>T c.355G>T (p.Gly119Ter) n.5457G>T | |
9 | g.132296934C>G | CA375343944 | SETX | c.5902G>C (p.Gly1968Arg) c.628G>C (p.Gly210Arg) n.5818G>C c.355G>C (p.Gly119Arg) n.5457G>C | |
9 | g.132296934C>T | CA375343945 | SETX | c.5902G>A (p.Gly1968Arg) c.628G>A (p.Gly210Arg) n.5818G>A c.355G>A (p.Gly119Arg) n.5457G>A | |
9 | g.132296935T>A | CA467428488 | SETX | c.5901A>T (p.Thr1967=) c.627A>T (p.Thr209=) n.5817A>T c.354A>T (p.Thr118=) n.5456A>T | |
9 | g.132296935T>C | CA200818925 | SETX | c.5901A>G (p.Thr1967=) c.627A>G (p.Thr209=) n.5817A>G c.354A>G (p.Thr118=) n.5456A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132296935T>G | CA5296880 | SETX | c.5901A>C (p.Thr1967=) c.627A>C (p.Thr209=) n.5817A>C c.354A>C (p.Thr118=) n.5456A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.132296935T= | CA1882092075 | SETX | c.5901A= (p.Thr1967=) c.627A= (p.Thr209=) n.5817A= c.354A= (p.Thr118=) n.5456A= | |
9 | g.132296936G>A | CA375343956 | SETX | c.5900C>T (p.Thr1967Ile) c.626C>T (p.Thr209Ile) n.5816C>T c.353C>T (p.Thr118Ile) n.5455C>T | |
9 | g.132296936G>C | CA375343961 | SETX | c.5900C>G (p.Thr1967Arg) c.626C>G (p.Thr209Arg) n.5816C>G c.353C>G (p.Thr118Arg) n.5455C>G | |
9 | g.132296936G>T | CA375343963 | SETX | c.5900C>A (p.Thr1967Lys) c.626C>A (p.Thr209Lys) n.5816C>A c.353C>A (p.Thr118Lys) n.5455C>A | |
9 | g.132296937T>A | CA375343978 | SETX | c.5899A>T (p.Thr1967Ser) c.625A>T (p.Thr209Ser) n.5815A>T c.352A>T (p.Thr118Ser) n.5454A>T | |
9 | g.132296937T>C | CA375343975 | SETX | c.5899A>G (p.Thr1967Ala) c.625A>G (p.Thr209Ala) n.5815A>G c.352A>G (p.Thr118Ala) n.5454A>G | |
9 | g.132296937T>G | CA375343969 | SETX | c.5899A>C (p.Thr1967Pro) c.625A>C (p.Thr209Pro) n.5815A>C c.352A>C (p.Thr118Pro) n.5454A>C | |
9 | g.132296938T>A | CA467428489 | SETX | c.5898A>T (p.Gly1966=) c.624A>T (p.Gly208=) n.5814A>T c.351A>T (p.Gly117=) n.5453A>T | |
9 | g.132296938T>C | CA200818931 | SETX | c.5898A>G (p.Gly1966=) c.624A>G (p.Gly208=) n.5814A>G c.351A>G (p.Gly117=) n.5453A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132296938T>G | CA467428490 | SETX | c.5898A>C (p.Gly1966=) c.624A>C (p.Gly208=) n.5814A>C c.351A>C (p.Gly117=) n.5453A>C | |
9 | g.132296938T= | CA1882092077 | SETX | c.5898A= (p.Gly1966=) c.624A= (p.Gly208=) n.5814A= c.351A= (p.Gly117=) n.5453A= | |
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.132296939C>A | CA375343993 | SETX | c.5897G>T (p.Gly1966Val) c.623G>T (p.Gly208Val) n.5813G>T c.350G>T (p.Gly117Val) n.5452G>T | |
9 | g.132296939C>G | CA375343990 | SETX | c.5897G>C (p.Gly1966Ala) c.623G>C (p.Gly208Ala) n.5813G>C c.350G>C (p.Gly117Ala) n.5452G>C | |
9 | g.132296939C>T | CA375343998 | SETX | c.5897G>A (p.Gly1966Glu) c.623G>A (p.Gly208Glu) n.5813G>A c.350G>A (p.Gly117Glu) n.5452G>A | COSMIC |
9 | g.132296940C>A | CA375344006 | SETX | c.5896G>T (p.Gly1966Ter) c.622G>T (p.Gly208Ter) n.5812G>T c.349G>T (p.Gly117Ter) n.5451G>T | |
9 | g.132296940C= | CA1882092079 | SETX | c.5896G= (p.Gly1966=) c.622G= (p.Gly208=) n.5812G= c.349G= (p.Gly117=) n.5451G= | |
9 | g.132296940C>G | CA375344009 | SETX | c.5896G>C (p.Gly1966Arg) c.622G>C (p.Gly208Arg) n.5812G>C c.349G>C (p.Gly117Arg) n.5451G>C | |
9 | g.132296940C>T | CA375344011 | SETX | c.5896G>A (p.Gly1966Arg) c.622G>A (p.Gly208Arg) n.5812G>A c.349G>A (p.Gly117Arg) n.5451G>A | dbSNP gnomAD v2 |
9 | g.132296941A= | CA1882092084 | SETX | c.5895T= (p.Pro1965=) c.621T= (p.Pro207=) n.5811T= c.348T= (p.Pro116=) n.5450T= | |
9 | g.132296941A>C | CA467428493 | SETX | c.5895T>G (p.Pro1965=) c.621T>G (p.Pro207=) n.5811T>G c.348T>G (p.Pro116=) n.5450T>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132296941A>G | CA467428491 | SETX | c.5895T>C (p.Pro1965=) c.621T>C (p.Pro207=) n.5811T>C c.348T>C (p.Pro116=) n.5450T>C | dbSNP |
9 | g.132296941A>T | CA467428492 | SETX | c.5895T>A (p.Pro1965=) c.621T>A (p.Pro207=) n.5811T>A c.348T>A (p.Pro116=) n.5450T>A | |
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 |