Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 | |
9 | g.132297043T>A | CA375344872 | SETX | c.5793A>T (p.Leu1931Phe) c.519A>T (p.Leu173Phe) n.5709A>T c.246A>T (p.Leu82Phe) n.5348A>T | |
9 | g.132297043T>C | CA467428550 | SETX | c.5793A>G (p.Leu1931=) c.519A>G (p.Leu173=) n.5709A>G c.246A>G (p.Leu82=) n.5348A>G | |
9 | g.132297043T>G | CA375344875 | SETX | c.5793A>C (p.Leu1931Phe) c.519A>C (p.Leu173Phe) n.5709A>C c.246A>C (p.Leu82Phe) n.5348A>C | |
9 | g.132297044A>C | CA375344882 | SETX | c.5792T>G (p.Leu1931Ter) c.518T>G (p.Leu173Ter) n.5708T>G c.245T>G (p.Leu82Ter) n.5347T>G | |
9 | g.132297044A>G | CA375344884 | SETX | c.5792T>C (p.Leu1931Ser) c.518T>C (p.Leu173Ser) n.5708T>C c.245T>C (p.Leu82Ser) n.5347T>C | |
9 | g.132297044A>T | CA375344883 | SETX | c.5792T>A (p.Leu1931Ter) c.518T>A (p.Leu173Ter) n.5708T>A c.245T>A (p.Leu82Ter) n.5347T>A | |
9 | g.132297045A>C | CA375344885 | SETX | c.5791T>G (p.Leu1931Val) c.517T>G (p.Leu173Val) n.5707T>G c.244T>G (p.Leu82Val) n.5346T>G | |
9 | g.132297045A>G | CA467428551 | SETX | c.5791T>C (p.Leu1931=) c.517T>C (p.Leu173=) n.5707T>C c.244T>C (p.Leu82=) n.5346T>C | |
9 | g.132297045A>T | CA375344887 | SETX | c.5791T>A (p.Leu1931Ile) c.517T>A (p.Leu173Ile) n.5707T>A c.244T>A (p.Leu82Ile) n.5346T>A | |
9 | g.132297046G>A | CA467428552 | SETX | c.5790C>T (p.Tyr1930=) c.516C>T (p.Tyr172=) n.5706C>T c.243C>T (p.Tyr81=) n.5345C>T | |
9 | g.132297046G>C | CA375344890 | SETX | c.5790C>G (p.Tyr1930Ter) c.516C>G (p.Tyr172Ter) n.5706C>G c.243C>G (p.Tyr81Ter) n.5345C>G | |
9 | g.132297046G>T | CA375344893 | SETX | c.5790C>A (p.Tyr1930Ter) c.516C>A (p.Tyr172Ter) n.5706C>A c.243C>A (p.Tyr81Ter) n.5345C>A | |
9 | g.132297047T>A | CA375344896 | SETX | c.5789A>T (p.Tyr1930Phe) c.515A>T (p.Tyr172Phe) n.5705A>T c.242A>T (p.Tyr81Phe) n.5344A>T | dbSNP |
9 | g.132297047T>C | CA375344899 | SETX | c.5789A>G (p.Tyr1930Cys) c.515A>G (p.Tyr172Cys) n.5705A>G c.242A>G (p.Tyr81Cys) n.5344A>G | gnomAD v4 |
9 | g.132297047T>G | CA375344901 | SETX | c.5789A>C (p.Tyr1930Ser) c.515A>C (p.Tyr172Ser) n.5705A>C c.242A>C (p.Tyr81Ser) n.5344A>C | |
9 | g.132297047T= | CA1882092219 | SETX | c.5789A= (p.Tyr1930=) c.515A= (p.Tyr172=) n.5705A= c.242A= (p.Tyr81=) n.5344A= | |
9 | g.132297048A>C | CA375344902 | SETX | c.5788T>G (p.Tyr1930Asp) c.514T>G (p.Tyr172Asp) n.5704T>G c.241T>G (p.Tyr81Asp) n.5343T>G | |
9 | g.132297048A>G | CA375344903 | SETX | c.5788T>C (p.Tyr1930His) c.514T>C (p.Tyr172His) n.5704T>C c.241T>C (p.Tyr81His) n.5343T>C | |
9 | g.132297048A>T | CA375344904 | SETX | c.5788T>A (p.Tyr1930Asn) c.514T>A (p.Tyr172Asn) n.5704T>A c.241T>A (p.Tyr81Asn) n.5343T>A | gnomAD v4 |
9 | g.132297049C>A | CA467428554 | SETX | c.5787G>T (p.Ala1929=) c.513G>T (p.Ala171=) n.5703G>T c.240G>T (p.Ala80=) n.5342G>T | |
9 | g.132297049C= | CA1882092220 | SETX | c.5787G= (p.Ala1929=) c.513G= (p.Ala171=) n.5703G= c.240G= (p.Ala80=) n.5342G= | |
9 | g.132297049C>G | CA467428553 | SETX | c.5787G>C (p.Ala1929=) c.513G>C (p.Ala171=) n.5703G>C c.240G>C (p.Ala80=) n.5342G>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132297049C>T | CA5296893 | SETX | c.5787G>A (p.Ala1929=) c.513G>A (p.Ala171=) n.5703G>A c.240G>A (p.Ala80=) n.5342G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132297050G>A | CA5296894 | SETX | c.5786C>T (p.Ala1929Val) c.512C>T (p.Ala171Val) n.5702C>T c.239C>T (p.Ala80Val) n.5341C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132297050G>C | CA375344907 | SETX | c.5786C>G (p.Ala1929Gly) c.512C>G (p.Ala171Gly) n.5702C>G c.239C>G (p.Ala80Gly) n.5341C>G | gnomAD v4 |
9 | g.132297050G= | CA1882092226 | SETX | c.5786C= (p.Ala1929=) c.512C= (p.Ala171=) n.5702C= c.239C= (p.Ala80=) n.5341C= | |
9 | g.132297050G>T | CA375344910 | SETX | c.5786C>A (p.Ala1929Glu) c.512C>A (p.Ala171Glu) n.5702C>A c.239C>A (p.Ala80Glu) n.5341C>A | gnomAD v4 |
9 | g.132297051C>A | CA375344914 | SETX | c.5785G>T (p.Ala1929Ser) c.511G>T (p.Ala171Ser) n.5701G>T c.238G>T (p.Ala80Ser) n.5340G>T | |
9 | g.132297051C= | CA1882092227 | SETX | c.5785G= (p.Ala1929=) c.511G= (p.Ala171=) n.5701G= c.238G= (p.Ala80=) n.5340G= | |
9 | g.132297051C>G | CA375344918 | SETX | c.5785G>C (p.Ala1929Pro) c.511G>C (p.Ala171Pro) n.5701G>C c.238G>C (p.Ala80Pro) n.5340G>C | |
9 | g.132297051C>T | CA200819060 | SETX | c.5785G>A (p.Ala1929Thr) c.511G>A (p.Ala171Thr) n.5701G>A c.238G>A (p.Ala80Thr) n.5340G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132297052A>C | CA375344921 | SETX | c.5784T>G (p.Ile1928Met) c.510T>G (p.Ile170Met) n.5700T>G c.237T>G (p.Ile79Met) n.5339T>G | |
9 | g.132297052A>G | CA467428555 | SETX | c.5784T>C (p.Ile1928=) c.510T>C (p.Ile170=) n.5700T>C c.237T>C (p.Ile79=) n.5339T>C | |
9 | g.132297052A>T | CA467428556 | SETX | c.5784T>A (p.Ile1928=) c.510T>A (p.Ile170=) n.5700T>A c.237T>A (p.Ile79=) n.5339T>A | |
9 | g.132297053A>C | CA375344924 | SETX | c.5783T>G (p.Ile1928Ser) c.509T>G (p.Ile170Ser) n.5699T>G c.236T>G (p.Ile79Ser) n.5338T>G | gnomAD v4 |
9 | g.132297053A>G | CA375344928 | SETX | c.5783T>C (p.Ile1928Thr) c.509T>C (p.Ile170Thr) n.5699T>C c.236T>C (p.Ile79Thr) n.5338T>C | |
9 | g.132297053A>T | CA375344942 | SETX | c.5783T>A (p.Ile1928Asn) c.509T>A (p.Ile170Asn) n.5699T>A c.236T>A (p.Ile79Asn) n.5338T>A | |
9 | g.132297054T>A | CA375344945 | SETX | c.5782A>T (p.Ile1928Phe) c.508A>T (p.Ile170Phe) n.5698A>T c.235A>T (p.Ile79Phe) n.5337A>T | |
9 | g.132297054T>C | CA375344947 | SETX | c.5782A>G (p.Ile1928Val) c.508A>G (p.Ile170Val) n.5698A>G c.235A>G (p.Ile79Val) n.5337A>G | |
9 | g.132297054T>G | CA375344950 | SETX | c.5782A>C (p.Ile1928Leu) c.508A>C (p.Ile170Leu) n.5698A>C c.235A>C (p.Ile79Leu) n.5337A>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132297054T= | CA1882092236 | SETX | c.5782A= (p.Ile1928=) c.508A= (p.Ile170=) n.5698A= c.235A= (p.Ile79=) n.5337A= | |
9 | g.132297055C>A | CA375344955 | SETX | c.5782-1G>T (n.5782-1G>T) c.508-1G>T (n.508-1G>T) n.5698-1G>T c.235-1G>T (n.235-1G>T) n.5337-1G>T | |
9 | g.132297055C>G | CA375344957 | SETX | c.5782-1G>C (n.5782-1G>C) c.508-1G>C (n.508-1G>C) n.5698-1G>C c.235-1G>C (n.235-1G>C) n.5337-1G>C | |
9 | g.132297055C>T | CA375344959 | SETX | c.5782-1G>A (n.5782-1G>A) c.508-1G>A (n.508-1G>A) n.5698-1G>A c.235-1G>A (n.235-1G>A) n.5337-1G>A | |
9 | g.132297056T>A | CA375344963 | SETX | c.5782-2A>T (n.5782-2A>T) c.508-2A>T (n.508-2A>T) n.5698-2A>T c.235-2A>T (n.235-2A>T) n.5337-2A>T | |
9 | g.132297056T>C | CA375344964 | SETX | c.5782-2A>G (n.5782-2A>G) c.508-2A>G (n.508-2A>G) n.5698-2A>G c.235-2A>G (n.235-2A>G) n.5337-2A>G | |
9 | g.132297056T>G | CA375344962 | SETX | c.5782-2A>C (n.5782-2A>C) c.508-2A>C (n.508-2A>C) n.5698-2A>C c.235-2A>C (n.235-2A>C) n.5337-2A>C | |
9 | g.132297058T>A | CA590947226 | SETX | c.5782-4A>T (n.5782-4A>T) c.508-4A>T (n.508-4A>T) n.5698-4A>T c.235-4A>T (n.235-4A>T) n.5337-4A>T | dbSNP gnomAD v2 |
9 | g.132297058T>C | CA5296895 | SETX | c.5782-4A>G (n.5782-4A>G) c.508-4A>G (n.508-4A>G) n.5698-4A>G c.235-4A>G (n.235-4A>G) n.5337-4A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132297058T= | CA1882092237 | SETX | c.5782-4A= (n.5782-4A=) c.508-4A= (n.508-4A=) n.5698-4A= c.235-4A= (n.235-4A=) n.5337-4A= | |
9 | g.132297059A>G | CA2692254073 | SETX | c.5782-5T>C (n.5782-5T>C) c.508-5T>C (n.508-5T>C) n.5698-5T>C c.235-5T>C (n.235-5T>C) n.5337-5T>C | gnomAD v4 |
9 | g.132297060del | CA2692254074 | SETX | c.5782-6del (n.5782-6del) c.508-6del (n.508-6del) n.5698-6del c.235-6del (n.235-6del) n.5337-6del | gnomAD v4 |
9 | g.132297060T>A | CA2692254075 | SETX | c.5782-6A>T (n.5782-6A>T) c.508-6A>T (n.508-6A>T) n.5698-6A>T c.235-6A>T (n.235-6A>T) n.5337-6A>T | gnomAD v4 |
9 | g.132297060T>C | CA5296896 | SETX | c.5782-6A>G (n.5782-6A>G) c.508-6A>G (n.508-6A>G) n.5698-6A>G c.235-6A>G (n.235-6A>G) n.5337-6A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.132297060T= | CA1882092238 | SETX | c.5782-6A= (n.5782-6A=) c.508-6A= (n.508-6A=) n.5698-6A= c.235-6A= (n.235-6A=) n.5337-6A= | |
9 | g.132297061A= | CA1882092239 | SETX | c.5782-7T= (n.5782-7T=) c.508-7T= (n.508-7T=) n.5698-7T= c.235-7T= (n.235-7T=) n.5337-7T= | |
9 | g.132297061A>G | CA1882092240 | SETX | c.5782-7T>C (n.5782-7T>C) c.508-7T>C (n.508-7T>C) n.5698-7T>C c.235-7T>C (n.235-7T>C) n.5337-7T>C | dbSNP |
9 | g.132297066dup | CA860636513 | SETX | c.5782-7dup (n.5782-7dup) c.508-7dup (n.508-7dup) n.5698-7dup c.235-7dup (n.235-7dup) n.5337-7dup | dbSNP gnomAD v4 |
9 | g.132297066del | CA2692254076 | SETX | c.5782-7del (n.5782-7del) c.508-7del (n.508-7del) n.5698-7del c.235-7del (n.235-7del) n.5337-7del | gnomAD v4 |
9 | g.132297066A>T | CA2692254077 | SETX | c.5782-12T>A (n.5782-12T>A) c.508-12T>A (n.508-12T>A) n.5698-12T>A c.235-12T>A (n.235-12T>A) n.5337-12T>A | gnomAD v4 |
9 | g.132297067C>T | CA2692254078 | SETX | c.5782-13G>A (n.5782-13G>A) c.508-13G>A (n.508-13G>A) n.5698-13G>A c.235-13G>A (n.235-13G>A) n.5337-13G>A | gnomAD v4 |
9 | g.132297068A= | CA1882092241 | SETX | c.5782-14T= (n.5782-14T=) c.508-14T= (n.508-14T=) n.5698-14T= c.235-14T= (n.235-14T=) n.5337-14T= | |
9 | g.132297068A>C | CA590947228 | SETX | c.5782-14T>G (n.5782-14T>G) c.508-14T>G (n.508-14T>G) n.5698-14T>G c.235-14T>G (n.235-14T>G) n.5337-14T>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132297068A>T | CA2692254079 | SETX | c.5782-14T>A (n.5782-14T>A) c.508-14T>A (n.508-14T>A) n.5698-14T>A c.235-14T>A (n.235-14T>A) n.5337-14T>A | gnomAD v4 |
9 | g.132297070A>G | CA2692254080 | SETX | c.5782-16T>C (n.5782-16T>C) c.508-16T>C (n.508-16T>C) n.5698-16T>C c.235-16T>C (n.235-16T>C) n.5337-16T>C | gnomAD v4 |
9 | g.132297073T>C | CA2692254081 | SETX | c.5782-19A>G (n.5782-19A>G) c.508-19A>G (n.508-19A>G) n.5698-19A>G c.235-19A>G (n.235-19A>G) n.5337-19A>G | gnomAD v4 |
9 | g.132297075T>C | CA2692254082 | SETX | c.5782-21A>G (n.5782-21A>G) c.508-21A>G (n.508-21A>G) n.5698-21A>G c.235-21A>G (n.235-21A>G) n.5337-21A>G | gnomAD v4 |
9 | g.132297076G>A | CA2692254083 | SETX | c.5782-22C>T (n.5782-22C>T) c.508-22C>T (n.508-22C>T) n.5698-22C>T c.235-22C>T (n.235-22C>T) n.5337-22C>T | gnomAD v4 |
9 | g.132297076G>T | CA2692254084 | SETX | c.5782-22C>A (n.5782-22C>A) c.508-22C>A (n.508-22C>A) n.5698-22C>A c.235-22C>A (n.235-22C>A) n.5337-22C>A | gnomAD v4 |
9 | g.132297077A= | CA1882092242 | SETX | c.5782-23T= (n.5782-23T=) c.508-23T= (n.508-23T=) n.5698-23T= c.235-23T= (n.235-23T=) n.5337-23T= | |
9 | g.132297077A>C | CA200819087 | SETX | c.5782-23T>G (n.5782-23T>G) c.508-23T>G (n.508-23T>G) n.5698-23T>G c.235-23T>G (n.235-23T>G) n.5337-23T>G | dbSNP |
9 | g.132297077A>G | CA2692254085 | SETX | c.5782-23T>C (n.5782-23T>C) c.508-23T>C (n.508-23T>C) n.5698-23T>C c.235-23T>C (n.235-23T>C) n.5337-23T>C | dbSNP gnomAD v4 |
9 | g.132297078G>A | CA2579601303 | SETX | c.5782-24C>T (n.5782-24C>T) c.508-24C>T (n.508-24C>T) n.5698-24C>T c.235-24C>T (n.235-24C>T) n.5337-24C>T | |
9 | g.132297080A= | CA1882092243 | SETX | c.5782-26T= (n.5782-26T=) c.508-26T= (n.508-26T=) n.5698-26T= c.235-26T= (n.235-26T=) n.5337-26T= | |
9 | g.132297080A>G | CA200819090 | SETX | c.5782-26T>C (n.5782-26T>C) c.508-26T>C (n.508-26T>C) n.5698-26T>C c.235-26T>C (n.235-26T>C) n.5337-26T>C | dbSNP gnomAD v3 gnomAD v4 |
9 | g.132297081T>C | CA860636518 | SETX | c.5782-27A>G (n.5782-27A>G) c.508-27A>G (n.508-27A>G) n.5698-27A>G c.235-27A>G (n.235-27A>G) n.5337-27A>G | dbSNP gnomAD v4 |
9 | g.132297081T= | CA1882092244 | SETX | c.5782-27A= (n.5782-27A=) c.508-27A= (n.508-27A=) n.5698-27A= c.235-27A= (n.235-27A=) n.5337-27A= | |
9 | g.132297082G>A | CA2692254086 | SETX | c.5782-28C>T (n.5782-28C>T) c.508-28C>T (n.508-28C>T) n.5698-28C>T c.235-28C>T (n.235-28C>T) n.5337-28C>T | gnomAD v4 |
9 | g.132297083A= | CA1882092245 | SETX | c.5782-29T= (n.5782-29T=) c.508-29T= (n.508-29T=) n.5698-29T= c.235-29T= (n.235-29T=) n.5337-29T= | |
9 | g.132297083A>G | CA1882092246 | SETX | c.5782-29T>C (n.5782-29T>C) c.508-29T>C (n.508-29T>C) n.5698-29T>C c.235-29T>C (n.235-29T>C) n.5337-29T>C | dbSNP |
9 | g.132297083A>T | CA2692254087 | SETX | c.5782-29T>A (n.5782-29T>A) c.508-29T>A (n.508-29T>A) n.5698-29T>A c.235-29T>A (n.235-29T>A) n.5337-29T>A | gnomAD v4 |
9 | g.132297084G>C | CA590947229 | SETX | c.5782-30C>G (n.5782-30C>G) c.508-30C>G (n.508-30C>G) n.5698-30C>G c.235-30C>G (n.235-30C>G) n.5337-30C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132297084G= | CA1882092247 | SETX | c.5782-30C= (n.5782-30C=) c.508-30C= (n.508-30C=) n.5698-30C= c.235-30C= (n.235-30C=) n.5337-30C= | |
9 | g.132297084G>T | CA2692254088 | SETX | c.5782-30C>A (n.5782-30C>A) c.508-30C>A (n.508-30C>A) n.5698-30C>A c.235-30C>A (n.235-30C>A) n.5337-30C>A | gnomAD v4 |
9 | g.132297085T>C | CA2692254089 | SETX | c.5782-31A>G (n.5782-31A>G) c.508-31A>G (n.508-31A>G) n.5698-31A>G c.235-31A>G (n.235-31A>G) n.5337-31A>G | gnomAD v4 |
9 | g.132297085T>G | CA590947231 | SETX | c.5782-31A>C (n.5782-31A>C) c.508-31A>C (n.508-31A>C) n.5698-31A>C c.235-31A>C (n.235-31A>C) n.5337-31A>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.132297085T= | CA1882092248 | SETX | c.5782-31A= (n.5782-31A=) c.508-31A= (n.508-31A=) n.5698-31A= c.235-31A= (n.235-31A=) n.5337-31A= | |
9 | g.132297086del | CA2692254090 | SETX | c.5782-31del (n.5782-31del) c.508-31del (n.508-31del) n.5698-31del c.235-31del (n.235-31del) n.5337-31del | gnomAD v4 |