Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.99870428T>A | CA341339271 | AGL | c.693T>A (p.His231Gln) n.904T>A c.645T>A (p.His215Gln) c.642T>A (p.His214Gln) | |
1 | g.99870428T>C | CA419096390 | AGL | c.693T>C (p.His231=) n.904T>C c.645T>C (p.His215=) c.642T>C (p.His214=) | |
1 | g.99870428T>G | CA341339273 | AGL | c.693T>G (p.His231Gln) n.904T>G c.645T>G (p.His215Gln) c.642T>G (p.His214Gln) | |
1 | g.99870429C>A | CA341339278 | AGL | c.694C>A (p.Pro232Thr) n.905C>A c.646C>A (p.Pro216Thr) c.643C>A (p.Pro215Thr) | |
1 | g.99870429C>G | CA341339276 | AGL | c.694C>G (p.Pro232Ala) n.905C>G c.646C>G (p.Pro216Ala) c.643C>G (p.Pro215Ala) | gnomAD v4 |
1 | g.99870429C>T | CA341339277 | AGL | c.694C>T (p.Pro232Ser) n.905C>T c.646C>T (p.Pro216Ser) c.643C>T (p.Pro215Ser) | gnomAD v4 |
1 | g.99870430C>A | CA341339281 | AGL | c.695C>A (p.Pro232Gln) n.906C>A c.647C>A (p.Pro216Gln) c.644C>A (p.Pro215Gln) | |
1 | g.99870430C>G | CA341339283 | AGL | c.695C>G (p.Pro232Arg) n.906C>G c.647C>G (p.Pro216Arg) c.644C>G (p.Pro215Arg) | |
1 | g.99870430C>T | CA341339285 | AGL | c.695C>T (p.Pro232Leu) n.906C>T c.647C>T (p.Pro216Leu) c.644C>T (p.Pro215Leu) | |
1 | g.99870431A= | CA1183923032 | AGL | c.696A= (p.Pro232=) n.907A= c.648A= (p.Pro216=) c.645A= (p.Pro215=) | |
1 | g.99870431A>C | CA419096391 | AGL | c.696A>C (p.Pro232=) n.907A>C c.648A>C (p.Pro216=) c.645A>C (p.Pro215=) | |
1 | g.99870431A>G | CA419096392 | AGL | c.696A>G (p.Pro232=) n.907A>G c.648A>G (p.Pro216=) c.645A>G (p.Pro215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870431A>T | CA419096393 | AGL | c.696A>T (p.Pro232=) n.907A>T c.648A>T (p.Pro216=) c.645A>T (p.Pro215=) | |
1 | g.99870432G>A | CA341339289 | AGL | c.697G>A (p.Glu233Lys) n.908G>A c.649G>A (p.Glu217Lys) c.646G>A (p.Glu216Lys) | |
1 | g.99870432G>C | CA341339294 | AGL | c.697G>C (p.Glu233Gln) n.908G>C c.649G>C (p.Glu217Gln) c.646G>C (p.Glu216Gln) | |
1 | g.99870432G>T | CA341339297 | AGL | c.697G>T (p.Glu233Ter) n.908G>T c.649G>T (p.Glu217Ter) c.646G>T (p.Glu216Ter) | |
1 | g.99870433A>C | CA341339300 | AGL | c.698A>C (p.Glu233Ala) n.909A>C c.650A>C (p.Glu217Ala) c.647A>C (p.Glu216Ala) | |
1 | g.99870433A>G | CA341339301 | AGL | c.698A>G (p.Glu233Gly) n.909A>G c.650A>G (p.Glu217Gly) c.647A>G (p.Glu216Gly) | |
1 | g.99870433A>T | CA341339302 | AGL | c.698A>T (p.Glu233Val) n.909A>T c.650A>T (p.Glu217Val) c.647A>T (p.Glu216Val) | |
1 | g.99870434A>C | CA341339304 | AGL | c.699A>C (p.Glu233Asp) n.910A>C c.651A>C (p.Glu217Asp) c.648A>C (p.Glu216Asp) | |
1 | g.99870434A>G | CA419096394 | AGL | c.699A>G (p.Glu233=) n.910A>G c.651A>G (p.Glu217=) c.648A>G (p.Glu216=) | |
1 | g.99870434A>T | CA341339306 | AGL | c.699A>T (p.Glu233Asp) n.910A>T c.651A>T (p.Glu217Asp) c.648A>T (p.Glu216Asp) | |
1 | g.99870435T>A | CA341339316 | AGL | c.700T>A (p.Cys234Ser) n.911T>A c.652T>A (p.Cys218Ser) c.649T>A (p.Cys217Ser) | gnomAD v4 |
1 | g.99870435T>C | CA341339312 | AGL | c.700T>C (p.Cys234Arg) n.911T>C c.652T>C (p.Cys218Arg) c.649T>C (p.Cys217Arg) | dbSNP |
1 | g.99870435T>G | CA341339309 | AGL | c.700T>G (p.Cys234Gly) n.911T>G c.652T>G (p.Cys218Gly) c.649T>G (p.Cys217Gly) | |
1 | g.99870435T= | CA1183923038 | AGL | c.700T= (p.Cys234=) n.911T= c.652T= (p.Cys218=) c.649T= (p.Cys217=) | |
1 | g.99870436G>A | CA966251 | AGL | c.701G>A (p.Cys234Tyr) n.912G>A c.653G>A (p.Cys218Tyr) c.650G>A (p.Cys217Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870436G>C | CA341339326 | AGL | c.701G>C (p.Cys234Ser) n.912G>C c.653G>C (p.Cys218Ser) c.650G>C (p.Cys217Ser) | |
1 | g.99870436G= | CA1183923042 | AGL | c.701G= (p.Cys234=) n.912G= c.653G= (p.Cys218=) c.650G= (p.Cys217=) | |
1 | g.99870436G>T | CA341339323 | AGL | c.701G>T (p.Cys234Phe) n.912G>T c.653G>T (p.Cys218Phe) c.650G>T (p.Cys217Phe) | |
1 | g.99870437T>A | CA341339331 | AGL | c.702T>A (p.Cys234Ter) n.913T>A c.654T>A (p.Cys218Ter) c.651T>A (p.Cys217Ter) | |
1 | g.99870437T>C | CA419096396 | AGL | c.702T>C (p.Cys234=) n.913T>C c.654T>C (p.Cys218=) c.651T>C (p.Cys217=) | |
1 | g.99870437T>G | CA341339334 | AGL | c.702T>G (p.Cys234Trp) n.913T>G c.654T>G (p.Cys218Trp) c.651T>G (p.Cys217Trp) | |
1 | g.99870438G>A | CA341339340 | AGL | c.703G>A (p.Ala235Thr) n.914G>A c.655G>A (p.Ala219Thr) c.652G>A (p.Ala218Thr) | ClinVar dbSNP gnomAD v4 |
1 | g.99870438G>C | CA341339341 | AGL | c.703G>C (p.Ala235Pro) n.914G>C c.655G>C (p.Ala219Pro) c.652G>C (p.Ala218Pro) | |
1 | g.99870438G= | CA1183923043 | AGL | c.703G= (p.Ala235=) n.914G= c.655G= (p.Ala219=) c.652G= (p.Ala218=) | |
1 | g.99870438G>T | CA341339345 | AGL | c.703G>T (p.Ala235Ser) n.914G>T c.655G>T (p.Ala219Ser) c.652G>T (p.Ala218Ser) | |
1 | g.99870439C>A | CA341339348 | AGL | c.704C>A (p.Ala235Asp) n.915C>A c.656C>A (p.Ala219Asp) c.653C>A (p.Ala218Asp) | |
1 | g.99870439C>G | CA341339351 | AGL | c.704C>G (p.Ala235Gly) n.915C>G c.656C>G (p.Ala219Gly) c.653C>G (p.Ala218Gly) | |
1 | g.99870439C>T | CA341339354 | AGL | c.704C>T (p.Ala235Val) n.915C>T c.656C>T (p.Ala219Val) c.653C>T (p.Ala218Val) | |
1 | g.99870440C>A | CA419096397 | AGL | c.705C>A (p.Ala235=) n.916C>A c.657C>A (p.Ala219=) c.654C>A (p.Ala218=) | |
1 | g.99870440C>G | CA419096398 | AGL | c.705C>G (p.Ala235=) n.916C>G c.657C>G (p.Ala219=) c.654C>G (p.Ala218=) | |
1 | g.99870440C>T | CA419096399 | AGL | c.705C>T (p.Ala235=) n.916C>T c.657C>T (p.Ala219=) c.654C>T (p.Ala218=) | gnomAD v4 |
1 | g.99870441T>A | CA341339357 | AGL | c.706T>A (p.Tyr236Asn) n.917T>A c.658T>A (p.Tyr220Asn) c.655T>A (p.Tyr219Asn) | |
1 | g.99870441T>C | CA341339360 | AGL | c.706T>C (p.Tyr236His) n.917T>C c.658T>C (p.Tyr220His) c.655T>C (p.Tyr219His) | |
1 | g.99870441T>G | CA341339365 | AGL | c.706T>G (p.Tyr236Asp) n.917T>G c.658T>G (p.Tyr220Asp) c.655T>G (p.Tyr219Asp) | |
1 | g.99870442A= | CA1183923047 | AGL | c.707A= (p.Tyr236=) n.918A= c.659A= (p.Tyr220=) c.656A= (p.Tyr219=) | |
1 | g.99870442A>C | CA341339369 | AGL | c.707A>C (p.Tyr236Ser) n.918A>C c.659A>C (p.Tyr220Ser) c.656A>C (p.Tyr219Ser) | |
1 | g.99870442A>G | CA341339373 | AGL | c.707A>G (p.Tyr236Cys) n.918A>G c.659A>G (p.Tyr220Cys) c.656A>G (p.Tyr219Cys) | dbSNP gnomAD v4 |
1 | g.99870442A>T | CA341339377 | AGL | c.707A>T (p.Tyr236Phe) n.918A>T c.659A>T (p.Tyr220Phe) c.656A>T (p.Tyr219Phe) | |
1 | g.99870443T>A | CA341339383 | AGL | c.708T>A (p.Tyr236Ter) n.919T>A c.660T>A (p.Tyr220Ter) c.657T>A (p.Tyr219Ter) | |
1 | g.99870443T>C | CA419096400 | AGL | c.708T>C (p.Tyr236=) n.919T>C c.660T>C (p.Tyr220=) c.657T>C (p.Tyr219=) | |
1 | g.99870443T>G | CA341339381 | AGL | c.708T>G (p.Tyr236Ter) n.919T>G c.660T>G (p.Tyr220Ter) c.657T>G (p.Tyr219Ter) | |
1 | g.99870444A>C | CA341339388 | AGL | c.709A>C (p.Asn237His) n.920A>C c.661A>C (p.Asn221His) c.658A>C (p.Asn220His) | |
1 | g.99870444A>G | CA341339390 | AGL | c.709A>G (p.Asn237Asp) n.920A>G c.661A>G (p.Asn221Asp) c.658A>G (p.Asn220Asp) | |
1 | g.99870444A>T | CA341339393 | AGL | c.709A>T (p.Asn237Tyr) n.920A>T c.661A>T (p.Asn221Tyr) c.658A>T (p.Asn220Tyr) | |
1 | g.99870445A= | CA1183923052 | AGL | c.710A= (p.Asn237=) n.921A= c.662A= (p.Asn221=) c.659A= (p.Asn220=) | |
1 | g.99870445A>C | CA341339397 | AGL | c.710A>C (p.Asn237Thr) n.921A>C c.662A>C (p.Asn221Thr) c.659A>C (p.Asn220Thr) | |
1 | g.99870445A>G | CA341339398 | AGL | c.710A>G (p.Asn237Ser) n.921A>G c.662A>G (p.Asn221Ser) c.659A>G (p.Asn220Ser) | ClinVar dbSNP |
1 | g.99870445A>T | CA341339402 | AGL | c.710A>T (p.Asn237Ile) n.921A>T c.662A>T (p.Asn221Ile) c.659A>T (p.Asn220Ile) | |
1 | g.99870446T>A | CA341339405 | AGL | c.711T>A (p.Asn237Lys) n.922T>A c.663T>A (p.Asn221Lys) c.660T>A (p.Asn220Lys) | |
1 | g.99870446T>C | CA419096401 | AGL | c.711T>C (p.Asn237=) n.922T>C c.663T>C (p.Asn221=) c.660T>C (p.Asn220=) | |
1 | g.99870446T>G | CA341339408 | AGL | c.711T>G (p.Asn237Lys) n.922T>G c.663T>G (p.Asn221Lys) c.660T>G (p.Asn220Lys) | |
1 | g.99870447C>A | CA341339411 | AGL | c.712C>A (p.Leu238Ile) n.923C>A c.664C>A (p.Leu222Ile) c.661C>A (p.Leu221Ile) | |
1 | g.99870447C>G | CA341339414 | AGL | c.712C>G (p.Leu238Val) n.923C>G c.664C>G (p.Leu222Val) c.661C>G (p.Leu221Val) | |
1 | g.99870447C>T | CA341339416 | AGL | c.712C>T (p.Leu238Phe) n.923C>T c.664C>T (p.Leu222Phe) c.661C>T (p.Leu221Phe) | |
1 | g.99870448T>A | CA341339435 | AGL | c.713T>A (p.Leu238His) n.924T>A c.665T>A (p.Leu222His) c.662T>A (p.Leu221His) | |
1 | g.99870448T>C | CA341339432 | AGL | c.713T>C (p.Leu238Pro) n.924T>C c.665T>C (p.Leu222Pro) c.662T>C (p.Leu221Pro) | |
1 | g.99870448T>G | CA341339428 | AGL | c.713T>G (p.Leu238Arg) n.924T>G c.665T>G (p.Leu222Arg) c.662T>G (p.Leu221Arg) | |
1 | g.99870449T>A | CA419096402 | AGL | c.714T>A (p.Leu238=) n.925T>A c.666T>A (p.Leu222=) c.663T>A (p.Leu221=) | dbSNP |
1 | g.99870449T>C | CA419096403 | AGL | c.714T>C (p.Leu238=) n.925T>C c.666T>C (p.Leu222=) c.663T>C (p.Leu221=) | gnomAD v4 |
1 | g.99870449T>G | CA419096404 | AGL | c.714T>G (p.Leu238=) n.925T>G c.666T>G (p.Leu222=) c.663T>G (p.Leu221=) | |
1 | g.99870449T= | CA1183923057 | AGL | c.714T= (p.Leu238=) n.925T= c.666T= (p.Leu222=) c.663T= (p.Leu221=) | |
1 | g.99870450G>A | CA341339439 | AGL | c.715G>A (p.Val239Met) n.926G>A c.667G>A (p.Val223Met) c.664G>A (p.Val222Met) | gnomAD v4 |
1 | g.99870450G>C | CA341339441 | AGL | c.715G>C (p.Val239Leu) n.926G>C c.667G>C (p.Val223Leu) c.664G>C (p.Val222Leu) | |
1 | g.99870450G>T | CA341339445 | AGL | c.715G>T (p.Val239Leu) n.926G>T c.667G>T (p.Val223Leu) c.664G>T (p.Val222Leu) | |
1 | g.99870451T>A | CA341339449 | AGL | c.716T>A (p.Val239Glu) n.927T>A c.668T>A (p.Val223Glu) c.665T>A (p.Val222Glu) | |
1 | g.99870451T>C | CA341339451 | AGL | c.716T>C (p.Val239Ala) n.927T>C c.668T>C (p.Val223Ala) c.665T>C (p.Val222Ala) | |
1 | g.99870451T>G | CA341339454 | AGL | c.716T>G (p.Val239Gly) n.927T>G c.668T>G (p.Val223Gly) c.665T>G (p.Val222Gly) | |
1 | g.99870451dup | CA2499214914 | AGL | c.716dup (p.Asn240GlufsTer21) n.927dup c.668dup (p.Asn224GlufsTer21) c.665dup (p.Asn223GlufsTer21) | ClinVar dbSNP gnomAD v4 |
1 | g.99870452G>A | CA419096405 | AGL | c.717G>A (p.Val239=) n.928G>A c.669G>A (p.Val223=) c.666G>A (p.Val222=) | |
1 | g.99870452G>C | CA419096406 | AGL | c.717G>C (p.Val239=) n.928G>C c.669G>C (p.Val223=) c.666G>C (p.Val222=) | |
1 | g.99870452G>T | CA419096407 | AGL | c.717G>T (p.Val239=) n.928G>T c.669G>T (p.Val223=) c.666G>T (p.Val222=) | gnomAD v4 |
1 | g.99870453A>C | CA341339455 | AGL | c.718A>C (p.Asn240His) n.929A>C c.670A>C (p.Asn224His) c.667A>C (p.Asn223His) | |
1 | g.99870453A>G | CA341339456 | AGL | c.718A>G (p.Asn240Asp) n.929A>G c.670A>G (p.Asn224Asp) c.667A>G (p.Asn223Asp) | |
1 | g.99870453A>T | CA341339457 | AGL | c.718A>T (p.Asn240Tyr) n.929A>T c.670A>T (p.Asn224Tyr) c.667A>T (p.Asn223Tyr) | |
1 | g.99870453_99870465del | CA2744755502 | AGL | c.718_730del (p.Asn240Ter) n.929_941del c.670_682del (p.Asn224Ter) c.667_679del (p.Asn223Ter) | |
1 | g.99870454A= | CA1183923060 | AGL | c.719A= (p.Asn240=) n.930A= c.671A= (p.Asn224=) c.668A= (p.Asn223=) | |
1 | g.99870454A>C | CA341339461 | AGL | c.719A>C (p.Asn240Thr) n.930A>C c.671A>C (p.Asn224Thr) c.668A>C (p.Asn223Thr) | |
1 | g.99870454A>G | CA341339463 | AGL | c.719A>G (p.Asn240Ser) n.930A>G c.671A>G (p.Asn224Ser) c.668A>G (p.Asn223Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870454A>T | CA341339468 | AGL | c.719A>T (p.Asn240Ile) n.930A>T c.671A>T (p.Asn224Ile) c.668A>T (p.Asn223Ile) | |
1 | g.99870455T>A | CA341339480 | AGL | c.720T>A (p.Asn240Lys) n.931T>A c.672T>A (p.Asn224Lys) c.669T>A (p.Asn223Lys) | |
1 | g.99870455T>C | CA966252 | AGL | c.720T>C (p.Asn240=) n.931T>C c.672T>C (p.Asn224=) c.669T>C (p.Asn223=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870455T>G | CA341339478 | AGL | c.720T>G (p.Asn240Lys) n.931T>G c.672T>G (p.Asn224Lys) c.669T>G (p.Asn223Lys) | |
1 | g.99870455T= | CA1183923065 | AGL | c.720T= (p.Asn240=) n.931T= c.672T= (p.Asn224=) c.669T= (p.Asn223=) | |
1 | g.99870456T>A | CA341339489 | AGL | c.721T>A (p.Ser241Thr) n.932T>A c.673T>A (p.Ser225Thr) c.670T>A (p.Ser224Thr) | |
1 | g.99870456T>C | CA341339492 | AGL | c.721T>C (p.Ser241Pro) n.932T>C c.673T>C (p.Ser225Pro) c.670T>C (p.Ser224Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870456T>G | CA341339494 | AGL | c.721T>G (p.Ser241Ala) n.932T>G c.673T>G (p.Ser225Ala) c.670T>G (p.Ser224Ala) | |
1 | g.99870456T= | CA1183923069 | AGL | c.721T= (p.Ser241=) n.932T= c.673T= (p.Ser225=) c.670T= (p.Ser224=) | |
1 | g.99870457C>A | CA341339499 | AGL | c.722C>A (p.Ser241Tyr) n.933C>A c.674C>A (p.Ser225Tyr) c.671C>A (p.Ser224Tyr) | ClinVar dbSNP COSMIC COSMIC |
1 | g.99870457C>G | CA341339502 | AGL | c.722C>G (p.Ser241Cys) n.933C>G c.674C>G (p.Ser225Cys) c.671C>G (p.Ser224Cys) | |
1 | g.99870457C>T | CA341339505 | AGL | c.722C>T (p.Ser241Phe) n.933C>T c.674C>T (p.Ser225Phe) c.671C>T (p.Ser224Phe) | |
1 | g.99870458T>A | CA419096408 | AGL | c.723T>A (p.Ser241=) n.934T>A c.675T>A (p.Ser225=) c.672T>A (p.Ser224=) | |
1 | g.99870458T>C | CA419096410 | AGL | c.723T>C (p.Ser241=) n.934T>C c.675T>C (p.Ser225=) c.672T>C (p.Ser224=) | |
1 | g.99870458T>G | CA419096409 | AGL | c.723T>G (p.Ser241=) n.934T>G c.675T>G (p.Ser225=) c.672T>G (p.Ser224=) | |
1 | g.99870459C>A | CA341339509 | AGL | c.724C>A (p.Pro242Thr) n.935C>A c.676C>A (p.Pro226Thr) c.673C>A (p.Pro225Thr) | |
1 | g.99870459C= | CA1144452612 | AGL | c.724C= (p.Pro242=) n.935C= c.676C= (p.Pro226=) c.673C= (p.Pro225=) | |
1 | g.99870459C>G | CA966253 | AGL | c.724C>G (p.Pro242Ala) n.935C>G c.676C>G (p.Pro226Ala) c.673C>G (p.Pro225Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870459C>T | CA341339515 | AGL | c.724C>T (p.Pro242Ser) n.935C>T c.676C>T (p.Pro226Ser) c.673C>T (p.Pro225Ser) | ClinVar dbSNP |
1 | g.99870460C>A | CA341339520 | AGL | c.725C>A (p.Pro242Gln) n.936C>A c.677C>A (p.Pro226Gln) c.674C>A (p.Pro225Gln) | |
1 | g.99870460C>G | CA341339523 | AGL | c.725C>G (p.Pro242Arg) n.936C>G c.677C>G (p.Pro226Arg) c.674C>G (p.Pro225Arg) | |
1 | g.99870460C>T | CA341339525 | AGL | c.725C>T (p.Pro242Leu) n.936C>T c.677C>T (p.Pro226Leu) c.674C>T (p.Pro225Leu) | |
1 | g.99870461A>C | CA419096411 | AGL | c.726A>C (p.Pro242=) n.937A>C c.678A>C (p.Pro226=) c.675A>C (p.Pro225=) | |
1 | g.99870461A>G | CA419096412 | AGL | c.726A>G (p.Pro242=) n.937A>G c.678A>G (p.Pro226=) c.675A>G (p.Pro225=) | ClinVar |
1 | g.99870461A>T | CA419096413 | AGL | c.726A>T (p.Pro242=) n.937A>T c.678A>T (p.Pro226=) c.675A>T (p.Pro225=) | |
1 | g.99870462C>A | CA341339536 | AGL | c.727C>A (p.His243Asn) n.938C>A c.679C>A (p.His227Asn) c.676C>A (p.His226Asn) | |
1 | g.99870462C>G | CA341339540 | AGL | c.727C>G (p.His243Asp) n.938C>G c.679C>G (p.His227Asp) c.676C>G (p.His226Asp) | |
1 | g.99870462C>T | CA341339533 | AGL | c.727C>T (p.His243Tyr) n.938C>T c.679C>T (p.His227Tyr) c.676C>T (p.His226Tyr) | |
1 | g.99870463A= | CA1183923073 | AGL | c.728A= (p.His243=) n.939A= c.680A= (p.His227=) c.677A= (p.His226=) | |
1 | g.99870463A>C | CA341339553 | AGL | c.728A>C (p.His243Pro) n.939A>C c.680A>C (p.His227Pro) c.677A>C (p.His226Pro) | |
1 | g.99870463A>G | CA341339546 | AGL | c.728A>G (p.His243Arg) n.939A>G c.680A>G (p.His227Arg) c.677A>G (p.His226Arg) | dbSNP |
1 | g.99870463A>T | CA341339549 | AGL | c.728A>T (p.His243Leu) n.939A>T c.680A>T (p.His227Leu) c.677A>T (p.His226Leu) | gnomAD v4 |
1 | g.99870464C>A | CA341339557 | AGL | c.729C>A (p.His243Gln) n.940C>A c.681C>A (p.His227Gln) c.678C>A (p.His226Gln) | |
1 | g.99870464C>G | CA341339560 | AGL | c.729C>G (p.His243Gln) n.940C>G c.681C>G (p.His227Gln) c.678C>G (p.His226Gln) | |
1 | g.99870464C>T | CA419096414 | AGL | c.729C>T (p.His243=) n.940C>T c.681C>T (p.His227=) c.678C>T (p.His226=) | ClinVar dbSNP gnomAD v4 |
1 | g.99870465T>A | CA341339565 | AGL | c.730T>A (p.Leu244Ile) n.941T>A c.682T>A (p.Leu228Ile) c.679T>A (p.Leu227Ile) | |
1 | g.99870465T>C | CA419096415 | AGL | c.730T>C (p.Leu244=) n.941T>C c.682T>C (p.Leu228=) c.679T>C (p.Leu227=) | |
1 | g.99870465T>G | CA341339568 | AGL | c.730T>G (p.Leu244Val) n.941T>G c.682T>G (p.Leu228Val) c.679T>G (p.Leu227Val) | |
1 | g.99870466T>A | CA341339580 | AGL | c.731T>A (p.Leu244Ter) n.942T>A c.683T>A (p.Leu228Ter) c.680T>A (p.Leu227Ter) | |
1 | g.99870466T>C | CA341339572 | AGL | c.731T>C (p.Leu244Ser) n.942T>C c.683T>C (p.Leu228Ser) c.680T>C (p.Leu227Ser) | |
1 | g.99870466T>G | CA341339575 | AGL | c.731T>G (p.Leu244Ter) n.942T>G c.683T>G (p.Leu228Ter) c.680T>G (p.Leu227Ter) | |
1 | g.99870467A>C | CA341339584 | AGL | c.732A>C (p.Leu244Phe) n.943A>C c.684A>C (p.Leu228Phe) c.681A>C (p.Leu227Phe) | |
1 | g.99870467A>G | CA419096416 | AGL | c.732A>G (p.Leu244=) n.943A>G c.684A>G (p.Leu228=) c.681A>G (p.Leu227=) | |
1 | g.99870467A>T | CA341339589 | AGL | c.732A>T (p.Leu244Phe) n.943A>T c.684A>T (p.Leu228Phe) c.681A>T (p.Leu227Phe) | |
1 | g.99870468A>C | CA341339593 | AGL | c.733A>C (p.Lys245Gln) n.944A>C c.685A>C (p.Lys229Gln) c.682A>C (p.Lys228Gln) | |
1 | g.99870468A>G | CA341339596 | AGL | c.733A>G (p.Lys245Glu) n.944A>G c.685A>G (p.Lys229Glu) c.682A>G (p.Lys228Glu) | |
1 | g.99870468A>T | CA341339599 | AGL | c.733A>T (p.Lys245Ter) n.944A>T c.685A>T (p.Lys229Ter) c.682A>T (p.Lys228Ter) | |
1 | g.99870468_99870469insG | CA2744755503 | AGL | c.733_734insG (p.Lys245ArgfsTer16) n.944_945insG c.685_686insG (p.Lys229ArgfsTer16) c.682_683insG (p.Lys228ArgfsTer16) | |
1 | g.99870469A>C | CA341339603 | AGL | c.734A>C (p.Lys245Thr) n.945A>C c.686A>C (p.Lys229Thr) c.683A>C (p.Lys228Thr) | |
1 | g.99870469A>G | CA341339613 | AGL | c.734A>G (p.Lys245Arg) n.945A>G c.686A>G (p.Lys229Arg) c.683A>G (p.Lys228Arg) | |
1 | g.99870469A>T | CA341339608 | AGL | c.734A>T (p.Lys245Ile) n.945A>T c.686A>T (p.Lys229Ile) c.683A>T (p.Lys228Ile) | |
1 | g.99870470A= | CA1183923076 | AGL | c.735A= (p.Lys245=) n.946A= c.687A= (p.Lys229=) c.684A= (p.Lys228=) | |
1 | g.99870470A>C | CA341339616 | AGL | c.735A>C (p.Lys245Asn) n.946A>C c.687A>C (p.Lys229Asn) c.684A>C (p.Lys228Asn) | |
1 | g.99870470A>G | CA419096417 | AGL | c.735A>G (p.Lys245=) n.946A>G c.687A>G (p.Lys229=) c.684A>G (p.Lys228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870470A>T | CA341339618 | AGL | c.735A>T (p.Lys245Asn) n.946A>T c.687A>T (p.Lys229Asn) c.684A>T (p.Lys228Asn) | |
1 | g.99870471C>A | CA341339621 | AGL | c.736C>A (p.Pro246Thr) n.947C>A c.688C>A (p.Pro230Thr) c.685C>A (p.Pro229Thr) | |
1 | g.99870471C= | CA1143726803 | AGL | c.736C= (p.Pro246=) n.947C= c.688C= (p.Pro230=) c.685C= (p.Pro229=) | |
1 | g.99870471C>G | CA966254 | AGL | c.736C>G (p.Pro246Ala) n.947C>G c.688C>G (p.Pro230Ala) c.685C>G (p.Pro229Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870471C>T | CA27568678 | AGL | c.736C>T (p.Pro246Ser) n.947C>T c.688C>T (p.Pro230Ser) c.685C>T (p.Pro229Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.99870471_99870479del | CA2744755504 | AGL | c.736_744del (p.Pro246_Trp248del) n.947_955del c.688_696del (p.Pro230_Trp232del) c.685_693del (p.Pro229_Trp231del) | |
1 | g.99870472C>A | CA341339630 | AGL | c.737C>A (p.Pro246His) n.948C>A c.689C>A (p.Pro230His) c.686C>A (p.Pro229His) | |
1 | g.99870472C>G | CA341339633 | AGL | c.737C>G (p.Pro246Arg) n.948C>G c.689C>G (p.Pro230Arg) c.686C>G (p.Pro229Arg) | |
1 | g.99870472C>T | CA341339636 | AGL | c.737C>T (p.Pro246Leu) n.948C>T c.689C>T (p.Pro230Leu) c.686C>T (p.Pro229Leu) | |
1 | g.99870473T>A | CA419096418 | AGL | c.738T>A (p.Pro246=) n.949T>A c.690T>A (p.Pro230=) c.687T>A (p.Pro229=) | |
1 | g.99870473T>C | CA419096419 | AGL | c.738T>C (p.Pro246=) n.949T>C c.690T>C (p.Pro230=) c.687T>C (p.Pro229=) | ClinVar dbSNP |
1 | g.99870473T>G | CA419096420 | AGL | c.738T>G (p.Pro246=) n.949T>G c.690T>G (p.Pro230=) c.687T>G (p.Pro229=) | |
1 | g.99870474G>A | CA341339641 | AGL | c.739G>A (p.Ala247Thr) n.950G>A c.691G>A (p.Ala231Thr) c.688G>A (p.Ala230Thr) | |
1 | g.99870474G>C | CA341339643 | AGL | c.739G>C (p.Ala247Pro) n.950G>C c.691G>C (p.Ala231Pro) c.688G>C (p.Ala230Pro) | |
1 | g.99870474G= | CA1148459915 | AGL | c.739G= (p.Ala247=) n.950G= c.691G= (p.Ala231=) c.688G= (p.Ala230=) | |
1 | g.99870474G>T | CA966255 | AGL | c.739G>T (p.Ala247Ser) n.950G>T c.691G>T (p.Ala231Ser) c.688G>T (p.Ala230Ser) | dbSNP ExAC gnomAD v2 |
1 | g.99870475C>A | CA341339657 | AGL | c.740C>A (p.Ala247Asp) n.951C>A c.692C>A (p.Ala231Asp) c.689C>A (p.Ala230Asp) | |
1 | g.99870475C>G | CA341339656 | AGL | c.740C>G (p.Ala247Gly) n.951C>G c.692C>G (p.Ala231Gly) c.689C>G (p.Ala230Gly) | |
1 | g.99870475C>T | CA341339652 | AGL | c.740C>T (p.Ala247Val) n.951C>T c.692C>T (p.Ala231Val) c.689C>T (p.Ala230Val) | |
1 | g.99870476dup | CA524878443 | AGL | c.741dup (p.Trp248LeufsTer13) n.952dup c.693dup (p.Trp232LeufsTer13) c.690dup (p.Trp231LeufsTer13) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870476C>A | CA419096421 | AGL | c.741C>A (p.Ala247=) n.952C>A c.693C>A (p.Ala231=) c.690C>A (p.Ala230=) | |
1 | g.99870476C>G | CA419096423 | AGL | c.741C>G (p.Ala247=) n.952C>G c.693C>G (p.Ala231=) c.690C>G (p.Ala230=) | |
1 | g.99870476C>T | CA419096422 | AGL | c.741C>T (p.Ala247=) n.952C>T c.693C>T (p.Ala231=) c.690C>T (p.Ala230=) | |
1 | g.99870477T>A | CA341339663 | AGL | c.742T>A (p.Trp248Arg) n.953T>A c.694T>A (p.Trp232Arg) c.691T>A (p.Trp231Arg) | |
1 | g.99870477T>C | CA341339671 | AGL | c.742T>C (p.Trp248Arg) n.953T>C c.694T>C (p.Trp232Arg) c.691T>C (p.Trp231Arg) | ClinVar dbSNP |
1 | g.99870477T>G | CA341339667 | AGL | c.742T>G (p.Trp248Gly) n.953T>G c.694T>G (p.Trp232Gly) c.691T>G (p.Trp231Gly) | |
1 | g.99870478G>A | CA341339675 | AGL | c.743G>A (p.Trp248Ter) n.954G>A c.695G>A (p.Trp232Ter) c.692G>A (p.Trp231Ter) | ClinVar |
1 | g.99870478G>C | CA341339678 | AGL | c.743G>C (p.Trp248Ser) n.954G>C c.695G>C (p.Trp232Ser) c.692G>C (p.Trp231Ser) | |
1 | g.99870478G>T | CA341339679 | AGL | c.743G>T (p.Trp248Leu) n.954G>T c.695G>T (p.Trp232Leu) c.692G>T (p.Trp231Leu) | |
1 | g.99870479G>A | CA341339682 | AGL | c.744G>A (p.Trp248Ter) n.955G>A c.696G>A (p.Trp232Ter) c.693G>A (p.Trp231Ter) | |
1 | g.99870479G>C | CA341339685 | AGL | c.744G>C (p.Trp248Cys) n.955G>C c.696G>C (p.Trp232Cys) c.693G>C (p.Trp231Cys) | |
1 | g.99870479G>T | CA341339687 | AGL | c.744G>T (p.Trp248Cys) n.955G>T c.696G>T (p.Trp232Cys) c.693G>T (p.Trp231Cys) | gnomAD v4 |
1 | g.99870480G>A | CA341339694 | AGL | c.745G>A (p.Val249Ile) n.956G>A c.697G>A (p.Val233Ile) c.694G>A (p.Val232Ile) | |
1 | g.99870480G>C | CA341339695 | AGL | c.745G>C (p.Val249Leu) n.956G>C c.697G>C (p.Val233Leu) c.694G>C (p.Val232Leu) | |
1 | g.99870480G>T | CA341339699 | AGL | c.745G>T (p.Val249Phe) n.956G>T c.697G>T (p.Val233Phe) c.694G>T (p.Val232Phe) | |
1 | g.99870481T>A | CA341339704 | AGL | c.746T>A (p.Val249Asp) n.957T>A c.698T>A (p.Val233Asp) c.695T>A (p.Val232Asp) | |
1 | g.99870481T>C | CA341339706 | AGL | c.746T>C (p.Val249Ala) n.957T>C c.698T>C (p.Val233Ala) c.695T>C (p.Val232Ala) | gnomAD v4 |
1 | g.99870481T>G | CA341339708 | AGL | c.746T>G (p.Val249Gly) n.957T>G c.698T>G (p.Val233Gly) c.695T>G (p.Val232Gly) | |
1 | g.99870482C>A | CA419096424 | AGL | c.747C>A (p.Val249=) n.958C>A c.699C>A (p.Val233=) c.696C>A (p.Val232=) | |
1 | g.99870482C>G | CA419096425 | AGL | c.747C>G (p.Val249=) n.958C>G c.699C>G (p.Val233=) c.696C>G (p.Val232=) | ClinVar |
1 | g.99870482C>T | CA419096426 | AGL | c.747C>T (p.Val249=) n.958C>T c.699C>T (p.Val233=) c.696C>T (p.Val232=) | gnomAD v4 |
1 | g.99870483T>A | CA341339713 | AGL | c.748T>A (p.Leu250Ile) n.959T>A c.700T>A (p.Leu234Ile) c.697T>A (p.Leu233Ile) | |
1 | g.99870483T>C | CA419096427 | AGL | c.748T>C (p.Leu250=) n.959T>C c.700T>C (p.Leu234=) c.697T>C (p.Leu233=) | |
1 | g.99870483T>G | CA341339716 | AGL | c.748T>G (p.Leu250Val) n.959T>G c.700T>G (p.Leu234Val) c.697T>G (p.Leu233Val) | |
1 | g.99870484T>A | CA341339722 | AGL | c.749T>A (p.Leu250Ter) n.960T>A c.701T>A (p.Leu234Ter) c.698T>A (p.Leu233Ter) | |
1 | g.99870484T>C | CA341339725 | AGL | c.749T>C (p.Leu250Ser) n.960T>C c.701T>C (p.Leu234Ser) c.698T>C (p.Leu233Ser) | |
1 | g.99870484T>G | CA341339727 | AGL | c.749T>G (p.Leu250Ter) n.960T>G c.701T>G (p.Leu234Ter) c.698T>G (p.Leu233Ter) | |
1 | g.99870484_99870488delinsTAGAC | CA1183923091 | AGL | c.749_753delinsTAGAC (p.Leu250=) n.960_964delinsTAGAC c.701_705delinsTAGAC (p.Leu234=) c.698_702delinsTAGAC (p.Leu233=) | |
1 | g.99870485A>C | CA341339732 | AGL | c.750A>C (p.Leu250Phe) n.961A>C c.702A>C (p.Leu234Phe) c.699A>C (p.Leu233Phe) | |
1 | g.99870485A>G | CA419096428 | AGL | c.750A>G (p.Leu250=) n.961A>G c.702A>G (p.Leu234=) c.699A>G (p.Leu233=) | |
1 | g.99870485A>T | CA341339736 | AGL | c.750A>T (p.Leu250Phe) n.961A>T c.702A>T (p.Leu234Phe) c.699A>T (p.Leu233Phe) | |
1 | g.99870485_99870491delinsAGACAGA | CA1149042026 | AGL | c.750_756delinsAGACAGA (p.Leu250=) n.961_967delinsAGACAGA c.702_708delinsAGACAGA (p.Leu234=) c.699_705delinsAGACAGA (p.Leu233=) | |
1 | g.99870488_99870491del | CA966256 | AGL | c.753_756del (p.Asp251GlufsTer23) n.964_967del c.705_708del (p.Asp235GlufsTer23) c.702_705del (p.Asp234GlufsTer23) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870486G>A | CA341339759 | AGL | c.751G>A (p.Asp251Asn) n.962G>A c.703G>A (p.Asp235Asn) c.700G>A (p.Asp234Asn) | |
1 | g.99870486G>C | CA341339762 | AGL | c.751G>C (p.Asp251His) n.962G>C c.703G>C (p.Asp235His) c.700G>C (p.Asp234His) | |
1 | g.99870486G>T | CA341339765 | AGL | c.751G>T (p.Asp251Tyr) n.962G>T c.703G>T (p.Asp235Tyr) c.700G>T (p.Asp234Tyr) | |
1 | g.99870487A= | CA1183923098 | AGL | c.752A= (p.Asp251=) n.963A= c.704A= (p.Asp235=) c.701A= (p.Asp234=) | |
1 | g.99870487A>C | CA341339769 | AGL | c.752A>C (p.Asp251Ala) n.963A>C c.704A>C (p.Asp235Ala) c.701A>C (p.Asp234Ala) | dbSNP gnomAD v2 |
1 | g.99870487A>G | CA341339772 | AGL | c.752A>G (p.Asp251Gly) n.963A>G c.704A>G (p.Asp235Gly) c.701A>G (p.Asp234Gly) | |
1 | g.99870487A>T | CA341339774 | AGL | c.752A>T (p.Asp251Val) n.963A>T c.704A>T (p.Asp235Val) c.701A>T (p.Asp234Val) | |
1 | g.99870488C>A | CA341339779 | AGL | c.753C>A (p.Asp251Glu) n.964C>A c.705C>A (p.Asp235Glu) c.702C>A (p.Asp234Glu) | |
1 | g.99870488C= | CA1183923103 | AGL | c.753C= (p.Asp251=) n.964C= c.705C= (p.Asp235=) c.702C= (p.Asp234=) | |
1 | g.99870488C>G | CA341339783 | AGL | c.753C>G (p.Asp251Glu) n.964C>G c.705C>G (p.Asp235Glu) c.702C>G (p.Asp234Glu) | |
1 | g.99870488C>T | CA27568700 | AGL | c.753C>T (p.Asp251=) n.964C>T c.705C>T (p.Asp235=) c.702C>T (p.Asp234=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870488_99870490delinsCAG | CA1183923101 | AGL | c.753_755delinsCAG (p.Asp251=) n.964_966delinsCAG c.705_707delinsCAG (p.Asp235=) c.702_704delinsCAG (p.Asp234=) | |
1 | g.99870488_99870497delinsCAGAGCACTT | CA1183923106 | AGL | c.753_762delinsCAGAGCACTT (p.Asp251=) n.964_973delinsCAGAGCACTT c.705_714delinsCAGAGCACTT (p.Asp235=) c.702_711delinsCAGAGCACTT (p.Asp234=) | |
1 | g.99870489A= | CA1143953119 | AGL | c.754A= (p.Arg252=) n.965A= c.706A= (p.Arg236=) c.703A= (p.Arg235=) | |
1 | g.99870489A>C | CA419096429 | AGL | c.754A>C (p.Arg252=) n.965A>C c.706A>C (p.Arg236=) c.703A>C (p.Arg235=) | |
1 | g.99870489A>G | CA966258 | AGL | c.754A>G (p.Arg252Gly) n.965A>G c.706A>G (p.Arg236Gly) c.703A>G (p.Arg235Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870489A>T | CA341339789 | AGL | c.754A>T (p.Arg252Ter) n.965A>T c.706A>T (p.Arg236Ter) c.703A>T (p.Arg235Ter) | |
1 | g.99870491_99870492del | CA966257 | AGL | c.756_757del (p.Arg252SerfsTer8) n.967_968del c.708_709del (p.Arg236SerfsTer8) c.705_706del (p.Arg235SerfsTer8) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870489_99870497del | CA1183923122 | AGL | c.754_762del (p.Arg252_Leu254del) n.965_973del c.706_714del (p.Arg236_Leu238del) c.703_711del (p.Arg235_Leu237del) | dbSNP |
1 | g.99870490G>A | CA341339800 | AGL | c.755G>A (p.Arg252Lys) n.966G>A c.707G>A (p.Arg236Lys) c.704G>A (p.Arg235Lys) | gnomAD v4 |
1 | g.99870490G>C | CA341339803 | AGL | c.755G>C (p.Arg252Thr) n.966G>C c.707G>C (p.Arg236Thr) c.704G>C (p.Arg235Thr) | |
1 | g.99870490G= | CA1183923125 | AGL | c.755G= (p.Arg252=) n.966G= c.707G= (p.Arg236=) c.704G= (p.Arg235=) | |
1 | g.99870490G>T | CA966259 | AGL | c.755G>T (p.Arg252Ile) n.966G>T c.707G>T (p.Arg236Ile) c.704G>T (p.Arg235Ile) | dbSNP ExAC gnomAD v2 |
1 | g.99870491A>C | CA341339805 | AGL | c.756A>C (p.Arg252Ser) n.967A>C c.708A>C (p.Arg236Ser) c.705A>C (p.Arg235Ser) | |
1 | g.99870491A>G | CA419096430 | AGL | c.756A>G (p.Arg252=) n.967A>G c.708A>G (p.Arg236=) c.705A>G (p.Arg235=) | |
1 | g.99870491A>T | CA341339808 | AGL | c.756A>T (p.Arg252Ser) n.967A>T c.708A>T (p.Arg236Ser) c.705A>T (p.Arg235Ser) | |
1 | g.99870492G>A | CA341339810 | AGL | c.757G>A (p.Ala253Thr) n.968G>A c.709G>A (p.Ala237Thr) c.706G>A (p.Ala236Thr) | gnomAD v4 |
1 | g.99870492G>C | CA966260 | AGL | c.757G>C (p.Ala253Pro) n.968G>C c.709G>C (p.Ala237Pro) c.706G>C (p.Ala236Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870492G= | CA1148230546 | AGL | c.757G= (p.Ala253=) n.968G= c.709G= (p.Ala237=) c.706G= (p.Ala236=) | |
1 | g.99870492G>T | CA341339812 | AGL | c.757G>T (p.Ala253Ser) n.968G>T c.709G>T (p.Ala237Ser) c.706G>T (p.Ala236Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.99870493C>A | CA341339814 | AGL | c.758C>A (p.Ala253Glu) n.969C>A c.710C>A (p.Ala237Glu) c.707C>A (p.Ala236Glu) | |
1 | g.99870493C= | CA1183923129 | AGL | c.758C= (p.Ala253=) n.969C= c.710C= (p.Ala237=) c.707C= (p.Ala236=) | |
1 | g.99870493C>G | CA341339817 | AGL | c.758C>G (p.Ala253Gly) n.969C>G c.710C>G (p.Ala237Gly) c.707C>G (p.Ala236Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870493C>T | CA341339819 | AGL | c.758C>T (p.Ala253Val) n.969C>T c.710C>T (p.Ala237Val) c.707C>T (p.Ala236Val) | dbSNP |
1 | g.99870494A= | CA1183923134 | AGL | c.759A= (p.Ala253=) n.970A= c.711A= (p.Ala237=) c.708A= (p.Ala236=) | |
1 | g.99870494A>C | CA419096432 | AGL | c.759A>C (p.Ala253=) n.970A>C c.711A>C (p.Ala237=) c.708A>C (p.Ala236=) | dbSNP gnomAD v4 |
1 | g.99870494A>G | CA966261 | AGL | c.759A>G (p.Ala253=) n.970A>G c.711A>G (p.Ala237=) c.708A>G (p.Ala236=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870494A>T | CA419096431 | AGL | c.759A>T (p.Ala253=) n.970A>T c.711A>T (p.Ala237=) c.708A>T (p.Ala236=) | |
1 | g.99870495C>A | CA341339821 | AGL | c.760C>A (p.Leu254Ile) n.971C>A c.712C>A (p.Leu238Ile) c.709C>A (p.Leu237Ile) | |
1 | g.99870495C>G | CA341339823 | AGL | c.760C>G (p.Leu254Val) n.971C>G c.712C>G (p.Leu238Val) c.709C>G (p.Leu237Val) | |
1 | g.99870495C>T | CA341339825 | AGL | c.760C>T (p.Leu254Phe) n.971C>T c.712C>T (p.Leu238Phe) c.709C>T (p.Leu237Phe) | |
1 | g.99870496T>A | CA341339828 | AGL | c.761T>A (p.Leu254His) n.972T>A c.713T>A (p.Leu238His) c.710T>A (p.Leu237His) | |
1 | g.99870496T>C | CA341339830 | AGL | c.761T>C (p.Leu254Pro) n.972T>C c.713T>C (p.Leu238Pro) c.710T>C (p.Leu237Pro) | |
1 | g.99870496T>G | CA341339832 | AGL | c.761T>G (p.Leu254Arg) n.972T>G c.713T>G (p.Leu238Arg) c.710T>G (p.Leu237Arg) | |
1 | g.99870496_99870497insAAA | CA2744755505 | AGL | c.761_762insAAA (p.Leu254_Trp255insAsn) n.972_973insAAA c.713_714insAAA (p.Leu238_Trp239insAsn) c.710_711insAAA (p.Leu237_Trp238insAsn) | |
1 | g.99870497T>A | CA419096433 | AGL | c.762T>A (p.Leu254=) n.973T>A c.714T>A (p.Leu238=) c.711T>A (p.Leu237=) | |
1 | g.99870497T>C | CA966262 | AGL | c.762T>C (p.Leu254=) n.973T>C c.714T>C (p.Leu238=) c.711T>C (p.Leu237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.99870497T>G | CA419096434 | AGL | c.762T>G (p.Leu254=) n.973T>G c.714T>G (p.Leu238=) c.711T>G (p.Leu237=) | |
1 | g.99870497T= | CA1183923140 | AGL | c.762T= (p.Leu254=) n.973T= c.714T= (p.Leu238=) c.711T= (p.Leu237=) | |
1 | g.99870498T>A | CA341339838 | AGL | c.763T>A (p.Trp255Arg) n.974T>A c.715T>A (p.Trp239Arg) c.712T>A (p.Trp238Arg) | |
1 | g.99870498T>C | CA966263 | AGL | c.763T>C (p.Trp255Arg) n.974T>C c.715T>C (p.Trp239Arg) c.712T>C (p.Trp238Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870498T>G | CA341339842 | AGL | c.763T>G (p.Trp255Gly) n.974T>G c.715T>G (p.Trp239Gly) c.712T>G (p.Trp238Gly) | gnomAD v4 |
1 | g.99870498T= | CA1183923143 | AGL | c.763T= (p.Trp255=) n.974T= c.715T= (p.Trp239=) c.712T= (p.Trp238=) | |
1 | g.99870499G>A | CA341339845 | AGL | c.764G>A (p.Trp255Ter) n.975G>A c.716G>A (p.Trp239Ter) c.713G>A (p.Trp238Ter) | |
1 | g.99870499G>C | CA341339847 | AGL | c.764G>C (p.Trp255Ser) n.975G>C c.716G>C (p.Trp239Ser) c.713G>C (p.Trp238Ser) | |
1 | g.99870499G>T | CA341339848 | AGL | c.764G>T (p.Trp255Leu) n.975G>T c.716G>T (p.Trp239Leu) c.713G>T (p.Trp238Leu) | |
1 | g.99870500G>A | CA341339852 | AGL | c.765G>A (p.Trp255Ter) n.976G>A c.717G>A (p.Trp239Ter) c.714G>A (p.Trp238Ter) | |
1 | g.99870500G>C | CA341339854 | AGL | c.765G>C (p.Trp255Cys) n.976G>C c.717G>C (p.Trp239Cys) c.714G>C (p.Trp238Cys) | |
1 | g.99870500G= | CA1183923145 | AGL | c.765G= (p.Trp255=) n.976G= c.717G= (p.Trp239=) c.714G= (p.Trp238=) | |
1 | g.99870500G>T | CA341339856 | AGL | c.765G>T (p.Trp255Cys) n.976G>T c.717G>T (p.Trp239Cys) c.714G>T (p.Trp238Cys) | dbSNP |
1 | g.99870500_99870505del | CA2744755506 | AGL | c.765_770del (p.Trp255_Phe257delinsCys) n.976_981del c.717_722del (p.Trp239_Phe241delinsCys) c.714_719del (p.Trp238_Phe240delinsCys) | |
1 | g.99870501C>A | CA341339858 | AGL | c.766C>A (p.Arg256Ser) n.977C>A c.718C>A (p.Arg240Ser) c.715C>A (p.Arg239Ser) | |
1 | g.99870501C= | CA1183923149 | AGL | c.766C= (p.Arg256=) n.977C= c.718C= (p.Arg240=) c.715C= (p.Arg239=) | |
1 | g.99870501C>G | CA341339861 | AGL | c.766C>G (p.Arg256Gly) n.977C>G c.718C>G (p.Arg240Gly) c.715C>G (p.Arg239Gly) | gnomAD v4 |
1 | g.99870501C>T | CA966264 | AGL | c.766C>T (p.Arg256Cys) n.977C>T c.718C>T (p.Arg240Cys) c.715C>T (p.Arg239Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.99870502G>A | CA966265 | AGL | c.767G>A (p.Arg256His) n.978G>A c.719G>A (p.Arg240His) c.716G>A (p.Arg239His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870502G>C | CA341339866 | AGL | c.767G>C (p.Arg256Pro) n.978G>C c.719G>C (p.Arg240Pro) c.716G>C (p.Arg239Pro) | |
1 | g.99870502G= | CA1143400881 | AGL | c.767G= (p.Arg256=) n.978G= c.719G= (p.Arg240=) c.716G= (p.Arg239=) | |
1 | g.99870502G>T | CA341339864 | AGL | c.767G>T (p.Arg256Leu) n.978G>T c.719G>T (p.Arg240Leu) c.716G>T (p.Arg239Leu) | COSMIC |
1 | g.99870503T>A | CA419096435 | AGL | c.768T>A (p.Arg256=) n.979T>A c.720T>A (p.Arg240=) c.717T>A (p.Arg239=) | |
1 | g.99870503T>C | CA419096436 | AGL | c.768T>C (p.Arg256=) n.979T>C c.720T>C (p.Arg240=) c.717T>C (p.Arg239=) | |
1 | g.99870503T>G | CA419096437 | AGL | c.768T>G (p.Arg256=) n.979T>G c.720T>G (p.Arg240=) c.717T>G (p.Arg239=) | |
1 | g.99870505dup | CA2586967081 | AGL | c.770dup (p.Ser258LeufsTer3) n.981dup c.722dup (p.Ser242LeufsTer3) c.719dup (p.Ser241LeufsTer3) | |
1 | g.99870504T>A | CA341339870 | AGL | c.769T>A (p.Phe257Ile) n.980T>A c.721T>A (p.Phe241Ile) c.718T>A (p.Phe240Ile) | |
1 | g.99870504T>C | CA341339871 | AGL | c.769T>C (p.Phe257Leu) n.980T>C c.721T>C (p.Phe241Leu) c.718T>C (p.Phe240Leu) | gnomAD v4 |
1 | g.99870504T>G | CA341339874 | AGL | c.769T>G (p.Phe257Val) n.980T>G c.721T>G (p.Phe241Val) c.718T>G (p.Phe240Val) | |
1 | g.99870505T>A | CA341339878 | AGL | c.770T>A (p.Phe257Tyr) n.981T>A c.722T>A (p.Phe241Tyr) c.719T>A (p.Phe240Tyr) | |
1 | g.99870505T>C | CA341339880 | AGL | c.770T>C (p.Phe257Ser) n.981T>C c.722T>C (p.Phe241Ser) c.719T>C (p.Phe240Ser) | dbSNP gnomAD v4 |
1 | g.99870505T>G | CA341339882 | AGL | c.770T>G (p.Phe257Cys) n.981T>G c.722T>G (p.Phe241Cys) c.719T>G (p.Phe240Cys) | |
1 | g.99870505T= | CA1183923163 | AGL | c.770T= (p.Phe257=) n.981T= c.722T= (p.Phe241=) c.719T= (p.Phe240=) | |
1 | g.99870506C>A | CA341339886 | AGL | c.771C>A (p.Phe257Leu) n.982C>A c.723C>A (p.Phe241Leu) c.720C>A (p.Phe240Leu) | |
1 | g.99870506C= | CA1183923166 | AGL | c.771C= (p.Phe257=) n.982C= c.723C= (p.Phe241=) c.720C= (p.Phe240=) | |
1 | g.99870506C>G | CA27568743 | AGL | c.771C>G (p.Phe257Leu) n.982C>G c.723C>G (p.Phe241Leu) c.720C>G (p.Phe240Leu) | ClinVar dbSNP gnomAD v4 |
1 | g.99870506C>T | CA419096438 | AGL | c.771C>T (p.Phe257=) n.982C>T c.723C>T (p.Phe241=) c.720C>T (p.Phe240=) | |
1 | g.99870507T>A | CA341339890 | AGL | c.772T>A (p.Ser258Thr) n.983T>A c.724T>A (p.Ser242Thr) c.721T>A (p.Ser241Thr) | |
1 | g.99870507T>C | CA10588921 | AGL | c.772T>C (p.Ser258Pro) n.983T>C c.724T>C (p.Ser242Pro) c.721T>C (p.Ser241Pro) | ClinVar dbSNP |
1 | g.99870507T>G | CA341339891 | AGL | c.772T>G (p.Ser258Ala) n.983T>G c.724T>G (p.Ser242Ala) c.721T>G (p.Ser241Ala) | |
1 | g.99870507T= | CA1183923168 | AGL | c.772T= (p.Ser258=) n.983T= c.724T= (p.Ser242=) c.721T= (p.Ser241=) | |
1 | g.99870508C>A | CA341339894 | AGL | c.773C>A (p.Ser258Tyr) n.984C>A c.725C>A (p.Ser242Tyr) c.722C>A (p.Ser241Tyr) | |
1 | g.99870508C>G | CA341339896 | AGL | c.773C>G (p.Ser258Cys) n.984C>G c.725C>G (p.Ser242Cys) c.722C>G (p.Ser241Cys) | |
1 | g.99870508C>T | CA341339899 | AGL | c.773C>T (p.Ser258Phe) n.984C>T c.725C>T (p.Ser242Phe) c.722C>T (p.Ser241Phe) | gnomAD v4 |
1 | g.99870509C>A | CA419096439 | AGL | c.774C>A (p.Ser258=) n.985C>A c.726C>A (p.Ser242=) c.723C>A (p.Ser241=) | |
1 | g.99870509C>G | CA419096440 | AGL | c.774C>G (p.Ser258=) n.985C>G c.726C>G (p.Ser242=) c.723C>G (p.Ser241=) | |
1 | g.99870509C>T | CA419096441 | AGL | c.774C>T (p.Ser258=) n.985C>T c.726C>T (p.Ser242=) c.723C>T (p.Ser241=) | gnomAD v4 |
1 | g.99870509_99870513del | CA2744755507 | AGL | c.774_778del (p.Asp260CysfsTer15) n.985_989del c.726_730del (p.Asp244CysfsTer15) c.723_727del (p.Asp243CysfsTer15) | |
1 | g.99870510T>A | CA341339903 | AGL | c.775T>A (p.Cys259Ser) n.986T>A c.727T>A (p.Cys243Ser) c.724T>A (p.Cys242Ser) | |
1 | g.99870510T>C | CA27568771 | AGL | c.775T>C (p.Cys259Arg) n.986T>C c.727T>C (p.Cys243Arg) c.724T>C (p.Cys242Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.99870510T>G | CA341339905 | AGL | c.775T>G (p.Cys259Gly) n.986T>G c.727T>G (p.Cys243Gly) c.724T>G (p.Cys242Gly) | |
1 | g.99870510T= | CA1183923176 | AGL | c.775T= (p.Cys259=) n.986T= c.727T= (p.Cys243=) c.724T= (p.Cys242=) | |
1 | g.99870511G>A | CA341339910 | AGL | c.776G>A (p.Cys259Tyr) n.987G>A c.728G>A (p.Cys243Tyr) c.725G>A (p.Cys242Tyr) | |
1 | g.99870511G>C | CA341339912 | AGL | c.776G>C (p.Cys259Ser) n.987G>C c.728G>C (p.Cys243Ser) c.725G>C (p.Cys242Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870511G= | CA1183923181 | AGL | c.776G= (p.Cys259=) n.987G= c.728G= (p.Cys243=) c.725G= (p.Cys242=) | |
1 | g.99870511G>T | CA341339915 | AGL | c.776G>T (p.Cys259Phe) n.987G>T c.728G>T (p.Cys243Phe) c.725G>T (p.Cys242Phe) | |
1 | g.99870512T>A | CA341339918 | AGL | c.777T>A (p.Cys259Ter) n.988T>A c.729T>A (p.Cys243Ter) c.726T>A (p.Cys242Ter) | |
1 | g.99870512T>C | CA419096442 | AGL | c.777T>C (p.Cys259=) n.988T>C c.729T>C (p.Cys243=) c.726T>C (p.Cys242=) | |
1 | g.99870512T>G | CA341339921 | AGL | c.777T>G (p.Cys259Trp) n.988T>G c.729T>G (p.Cys243Trp) c.726T>G (p.Cys242Trp) | |
1 | g.99870513G>A | CA341339924 | AGL | c.778G>A (p.Asp260Asn) n.989G>A c.730G>A (p.Asp244Asn) c.727G>A (p.Asp243Asn) | |
1 | g.99870513G>C | CA341339926 | AGL | c.778G>C (p.Asp260His) n.989G>C c.730G>C (p.Asp244His) c.727G>C (p.Asp243His) | |
1 | g.99870513G>T | CA341339928 | AGL | c.778G>T (p.Asp260Tyr) n.989G>T c.730G>T (p.Asp244Tyr) c.727G>T (p.Asp243Tyr) | |
1 | g.99870514A>C | CA341339944 | AGL | c.779A>C (p.Asp260Ala) n.990A>C c.731A>C (p.Asp244Ala) c.728A>C (p.Asp243Ala) | |
1 | g.99870514A>G | CA341339947 | AGL | c.779A>G (p.Asp260Gly) n.990A>G c.731A>G (p.Asp244Gly) c.728A>G (p.Asp243Gly) | |
1 | g.99870514A>T | CA341339950 | AGL | c.779A>T (p.Asp260Val) n.990A>T c.731A>T (p.Asp244Val) c.728A>T (p.Asp243Val) | |
1 | g.99870514_99870515delinsAT | CA1183923186 | AGL | c.779_780delinsAT (p.Asp260=) n.990_991delinsAT c.731_732delinsAT (p.Asp244=) c.728_729delinsAT (p.Asp243=) | |
1 | g.99870515del | CA1183923188 | AGL | c.780del (p.Asp260GlufsTer15) n.991del c.732del (p.Asp244GlufsTer15) c.729del (p.Asp243GlufsTer15) | dbSNP |
1 | g.99870515T>A | CA341339954 | AGL | c.780T>A (p.Asp260Glu) n.991T>A c.732T>A (p.Asp244Glu) c.729T>A (p.Asp243Glu) | |
1 | g.99870515T>C | CA419096443 | AGL | c.780T>C (p.Asp260=) n.991T>C c.732T>C (p.Asp244=) c.729T>C (p.Asp243=) | |
1 | g.99870515T>G | CA341339957 | AGL | c.780T>G (p.Asp260Glu) n.991T>G c.732T>G (p.Asp244Glu) c.729T>G (p.Asp243Glu) | |
1 | g.99870516G>A | CA341339961 | AGL | c.781G>A (p.Val261Ile) n.992G>A c.733G>A (p.Val245Ile) c.730G>A (p.Val244Ile) | gnomAD v4 |
1 | g.99870516G>C | CA341339965 | AGL | c.781G>C (p.Val261Leu) n.992G>C c.733G>C (p.Val245Leu) c.730G>C (p.Val244Leu) | |
1 | g.99870516G>T | CA341339963 | AGL | c.781G>T (p.Val261Phe) n.992G>T c.733G>T (p.Val245Phe) c.730G>T (p.Val244Phe) | |
1 | g.99870517T>A | CA341339968 | AGL | c.782T>A (p.Val261Asp) n.993T>A c.734T>A (p.Val245Asp) c.731T>A (p.Val244Asp) | |
1 | g.99870517T>C | CA341339970 | AGL | c.782T>C (p.Val261Ala) n.993T>C c.734T>C (p.Val245Ala) c.731T>C (p.Val244Ala) | ClinVar dbSNP |
1 | g.99870517T>G | CA341339973 | AGL | c.782T>G (p.Val261Gly) n.993T>G c.734T>G (p.Val245Gly) c.731T>G (p.Val244Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.99870517T= | CA1183923191 | AGL | c.782T= (p.Val261=) n.993T= c.734T= (p.Val245=) c.731T= (p.Val244=) | |
1 | g.99870518T>A | CA419096444 | AGL | c.783T>A (p.Val261=) n.994T>A c.735T>A (p.Val245=) c.732T>A (p.Val244=) | |
1 | g.99870518T>C | CA419096445 | AGL | c.783T>C (p.Val261=) n.994T>C c.735T>C (p.Val245=) c.732T>C (p.Val244=) | |
1 | g.99870518T>G | CA419096446 | AGL | c.783T>G (p.Val261=) n.994T>G c.735T>G (p.Val245=) c.732T>G (p.Val244=) | ClinVar |
1 | g.99870519G>A | CA341339978 | AGL | c.784G>A (p.Ala262Thr) n.995G>A c.736G>A (p.Ala246Thr) c.733G>A (p.Ala245Thr) | gnomAD v4 |
1 | g.99870519G>C | CA341339982 | AGL | c.784G>C (p.Ala262Pro) n.995G>C c.736G>C (p.Ala246Pro) c.733G>C (p.Ala245Pro) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.99870519G= | CA1183923194 | AGL | c.784G= (p.Ala262=) n.995G= c.736G= (p.Ala246=) c.733G= (p.Ala245=) | |
1 | g.99870519G>T | CA341339987 | AGL | c.784G>T (p.Ala262Ser) n.995G>T c.736G>T (p.Ala246Ser) c.733G>T (p.Ala245Ser) | |
1 | g.99870520C>A | CA341339991 | AGL | c.785C>A (p.Ala262Glu) n.996C>A c.737C>A (p.Ala246Glu) c.734C>A (p.Ala245Glu) | |
1 | g.99870520C>G | CA341339994 | AGL | c.785C>G (p.Ala262Gly) n.996C>G c.737C>G (p.Ala246Gly) c.734C>G (p.Ala245Gly) | gnomAD v4 |
1 | g.99870520C>T | CA341339997 | AGL | c.785C>T (p.Ala262Val) n.996C>T c.737C>T (p.Ala246Val) c.734C>T (p.Ala245Val) | |
1 | g.99870521A>C | CA419096449 | AGL | c.786A>C (p.Ala262=) n.997A>C c.738A>C (p.Ala246=) c.735A>C (p.Ala245=) | |
1 | g.99870521A>G | CA419096448 | AGL | c.786A>G (p.Ala262=) n.997A>G c.738A>G (p.Ala246=) c.735A>G (p.Ala245=) | ClinVar dbSNP |
1 | g.99870521A>T | CA419096447 | AGL | c.786A>T (p.Ala262=) n.997A>T c.738A>T (p.Ala246=) c.735A>T (p.Ala245=) | |
1 | g.99870522G>A | CA341340009 | AGL | c.787G>A (p.Glu263Lys) n.998G>A c.739G>A (p.Glu247Lys) c.736G>A (p.Glu246Lys) | |
1 | g.99870522G>C | CA341340013 | AGL | c.787G>C (p.Glu263Gln) n.998G>C c.739G>C (p.Glu247Gln) c.736G>C (p.Glu246Gln) | |
1 | g.99870522G>T | CA341340018 | AGL | c.787G>T (p.Glu263Ter) n.998G>T c.739G>T (p.Glu247Ter) c.736G>T (p.Glu246Ter) | |
1 | g.99870523A>C | CA341340030 | AGL | c.788A>C (p.Glu263Ala) n.999A>C c.740A>C (p.Glu247Ala) c.737A>C (p.Glu246Ala) | |
1 | g.99870523A>G | CA341340025 | AGL | c.788A>G (p.Glu263Gly) n.999A>G c.740A>G (p.Glu247Gly) c.737A>G (p.Glu246Gly) | |
1 | g.99870523A>T | CA341340028 | AGL | c.788A>T (p.Glu263Val) n.999A>T c.740A>T (p.Glu247Val) c.737A>T (p.Glu246Val) | |
1 | g.99870524A>C | CA341340035 | AGL | c.789A>C (p.Glu263Asp) n.1000A>C c.741A>C (p.Glu247Asp) c.738A>C (p.Glu246Asp) | |
1 | g.99870524A>G | CA419096450 | AGL | c.789A>G (p.Glu263=) n.1000A>G c.741A>G (p.Glu247=) c.738A>G (p.Glu246=) | |
1 | g.99870524A>T | CA341340037 | AGL | c.789A>T (p.Glu263Asp) n.1000A>T c.741A>T (p.Glu247Asp) c.738A>T (p.Glu246Asp) | |
1 | g.99870525G>A | CA341340042 | AGL | c.790G>A (p.Gly264Arg) n.1001G>A c.742G>A (p.Gly248Arg) c.739G>A (p.Gly247Arg) | gnomAD v4 |
1 | g.99870525G>C | CA341340046 | AGL | c.790G>C (p.Gly264Arg) n.1001G>C c.742G>C (p.Gly248Arg) c.739G>C (p.Gly247Arg) | |
1 | g.99870525G>T | CA341340050 | AGL | c.790G>T (p.Gly264Trp) n.1001G>T c.742G>T (p.Gly248Trp) c.739G>T (p.Gly247Trp) | COSMIC COSMIC |
1 | g.99870526G>A | CA341340055 | AGL | c.791G>A (p.Gly264Glu) n.1002G>A c.743G>A (p.Gly248Glu) c.740G>A (p.Gly247Glu) | |
1 | g.99870526G>C | CA341340058 | AGL | c.791G>C (p.Gly264Ala) n.1002G>C c.743G>C (p.Gly248Ala) c.740G>C (p.Gly247Ala) | |
1 | g.99870526G>T | CA341340061 | AGL | c.791G>T (p.Gly264Val) n.1002G>T c.743G>T (p.Gly248Val) c.740G>T (p.Gly247Val) | |
1 | g.99870527G>A | CA419096451 | AGL | c.792G>A (p.Gly264=) n.1003G>A c.744G>A (p.Gly248=) c.741G>A (p.Gly247=) | |
1 | g.99870527G>C | CA419096453 | AGL | c.792G>C (p.Gly264=) n.1003G>C c.744G>C (p.Gly248=) c.741G>C (p.Gly247=) | |
1 | g.99870527G>T | CA419096452 | AGL | c.792G>T (p.Gly264=) n.1003G>T c.744G>T (p.Gly248=) c.741G>T (p.Gly247=) | |
1 | g.99870528A>C | CA341340067 | AGL | c.793A>C (p.Lys265Gln) n.1004A>C c.745A>C (p.Lys249Gln) c.742A>C (p.Lys248Gln) | |
1 | g.99870528A>G | CA341340070 | AGL | c.793A>G (p.Lys265Glu) n.1004A>G c.745A>G (p.Lys249Glu) c.742A>G (p.Lys248Glu) | |
1 | g.99870528A>T | CA341340072 | AGL | c.793A>T (p.Lys265Ter) n.1004A>T c.745A>T (p.Lys249Ter) c.742A>T (p.Lys248Ter) | |
1 | g.99870530del | CA2697552539 | AGL | c.795del (p.Lys265AsnfsTer10) n.1006del c.747del (p.Lys249AsnfsTer10) c.744del (p.Lys248AsnfsTer10) | ClinVar |