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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.30993140T>A | CA395646601 | STX1B | c.776A>T (p.Lys259Met) c.524A>T (p.Lys175Met) c.758A>T (p.Lys253Met) | |
| 16 | g.30993140T>C | CA395646596 | STX1B | c.776A>G (p.Lys259Arg) c.524A>G (p.Lys175Arg) c.758A>G (p.Lys253Arg) | |
| 16 | g.30993140T>G | CA395646599 | STX1B | c.776A>C (p.Lys259Thr) c.524A>C (p.Lys175Thr) c.758A>C (p.Lys253Thr) | |
| 16 | g.30993141T>A | CA395646603 | STX1B | c.775A>T (p.Lys259Ter) c.523A>T (p.Lys175Ter) c.757A>T (p.Lys253Ter) | |
| 16 | g.30993141T>C | CA395646606 | STX1B | c.775A>G (p.Lys259Glu) c.523A>G (p.Lys175Glu) c.757A>G (p.Lys253Glu) | |
| 16 | g.30993141T>G | CA395646608 | STX1B | c.775A>C (p.Lys259Gln) c.523A>C (p.Lys175Gln) c.757A>C (p.Lys253Gln) | |
| 16 | g.30993142G>A | CA494690375 | STX1B | c.774C>T (p.Ser258=) c.522C>T (p.Ser174=) c.756C>T (p.Ser252=) | ClinVar dbSNP |
| 16 | g.30993142G>C | CA395646613 | STX1B | c.774C>G (p.Ser258Arg) c.522C>G (p.Ser174Arg) c.756C>G (p.Ser252Arg) | gnomAD v4 |
| 16 | g.30993142G= | CA2216835957 | STX1B | c.774C= (p.Ser258=) c.522C= (p.Ser174=) c.756C= (p.Ser252=) | |
| 16 | g.30993142G>T | CA395646615 | STX1B | c.774C>A (p.Ser258Arg) c.522C>A (p.Ser174Arg) c.756C>A (p.Ser252Arg) | |
| 16 | g.30993143C>A | CA395646618 | STX1B | c.773G>T (p.Ser258Ile) c.521G>T (p.Ser174Ile) c.755G>T (p.Ser252Ile) | |
| 16 | g.30993143C= | CA2216835961 | STX1B | c.773G= (p.Ser258=) c.521G= (p.Ser174=) c.755G= (p.Ser252=) | |
| 16 | g.30993143C>G | CA395646621 | STX1B | c.773G>C (p.Ser258Thr) c.521G>C (p.Ser174Thr) c.755G>C (p.Ser252Thr) | |
| 16 | g.30993143C>T | CA395646624 | STX1B | c.773G>A (p.Ser258Asn) c.521G>A (p.Ser174Asn) c.755G>A (p.Ser252Asn) | ClinVar dbSNP |
| 16 | g.30993144T>A | CA395646627 | STX1B | c.772A>T (p.Ser258Cys) c.520A>T (p.Ser174Cys) c.754A>T (p.Ser252Cys) | |
| 16 | g.30993144T>C | CA395646630 | STX1B | c.772A>G (p.Ser258Gly) c.520A>G (p.Ser174Gly) c.754A>G (p.Ser252Gly) | |
| 16 | g.30993144T>G | CA395646633 | STX1B | c.772A>C (p.Ser258Arg) c.520A>C (p.Ser174Arg) c.754A>C (p.Ser252Arg) | |
| 16 | g.30993145C>A | CA395646637 | STX1B | c.771G>T (p.Gln257His) c.519G>T (p.Gln173His) c.753G>T (p.Gln251His) | |
| 16 | g.30993145C>G | CA395646639 | STX1B | c.771G>C (p.Gln257His) c.519G>C (p.Gln173His) c.753G>C (p.Gln251His) | |
| 16 | g.30993145C>T | CA494690386 | STX1B | c.771G>A (p.Gln257=) c.519G>A (p.Gln173=) c.753G>A (p.Gln251=) | |
| 16 | g.30993146T>A | CA395646645 | STX1B | c.770A>T (p.Gln257Leu) c.518A>T (p.Gln173Leu) c.752A>T (p.Gln251Leu) | |
| 16 | g.30993146T>C | CA395646643 | STX1B | c.770A>G (p.Gln257Arg) c.518A>G (p.Gln173Arg) c.752A>G (p.Gln251Arg) | dbSNP |
| 16 | g.30993146T>G | CA395646644 | STX1B | c.770A>C (p.Gln257Pro) c.518A>C (p.Gln173Pro) c.752A>C (p.Gln251Pro) | gnomAD v4 |
| 16 | g.30993146T= | CA2216835966 | STX1B | c.770A= (p.Gln257=) c.518A= (p.Gln173=) c.752A= (p.Gln251=) | |
| 16 | g.30993147G>A | CA395646647 | STX1B | c.769C>T (p.Gln257Ter) c.517C>T (p.Gln173Ter) c.751C>T (p.Gln251Ter) | |
| 16 | g.30993147G>C | CA395646649 | STX1B | c.769C>G (p.Gln257Glu) c.517C>G (p.Gln173Glu) c.751C>G (p.Gln251Glu) | |
| 16 | g.30993147G>T | CA395646652 | STX1B | c.769C>A (p.Gln257Lys) c.517C>A (p.Gln173Lys) c.751C>A (p.Gln251Lys) | |
| 16 | g.30993148A= | CA2216835974 | STX1B | c.768T= (p.Tyr256=) c.516T= (p.Tyr172=) c.750T= (p.Tyr250=) | |
| 16 | g.30993148A>C | CA395646656 | STX1B | c.768T>G (p.Tyr256Ter) c.516T>G (p.Tyr172Ter) c.750T>G (p.Tyr250Ter) | |
| 16 | g.30993148A>G | CA494920816 | STX1B | c.768T>C (p.Tyr256=) c.516T>C (p.Tyr172=) c.750T>C (p.Tyr250=) | |
| 16 | g.30993148A>T | CA395646657 | STX1B | c.768T>A (p.Tyr256Ter) c.516T>A (p.Tyr172Ter) c.750T>A (p.Tyr250Ter) | ClinVar dbSNP |
| 16 | g.30993149T>A | CA395646660 | STX1B | c.767A>T (p.Tyr256Phe) c.515A>T (p.Tyr172Phe) c.749A>T (p.Tyr250Phe) | |
| 16 | g.30993149T>C | CA395646663 | STX1B | c.767A>G (p.Tyr256Cys) c.515A>G (p.Tyr172Cys) c.749A>G (p.Tyr250Cys) | |
| 16 | g.30993149T>G | CA395646667 | STX1B | c.767A>C (p.Tyr256Ser) c.515A>C (p.Tyr172Ser) c.749A>C (p.Tyr250Ser) | |
| 16 | g.30993150A>C | CA395646669 | STX1B | c.766T>G (p.Tyr256Asp) c.514T>G (p.Tyr172Asp) c.748T>G (p.Tyr250Asp) | |
| 16 | g.30993150A>G | CA395646670 | STX1B | c.766T>C (p.Tyr256His) c.514T>C (p.Tyr172His) c.748T>C (p.Tyr250His) | ClinVar dbSNP |
| 16 | g.30993150A>T | CA395646672 | STX1B | c.766T>A (p.Tyr256Asn) c.514T>A (p.Tyr172Asn) c.748T>A (p.Tyr250Asn) | |
| 16 | g.30993151T>A | CA395646676 | STX1B | c.765A>T (p.Lys255Asn) c.513A>T (p.Lys171Asn) c.747A>T (p.Lys249Asn) | |
| 16 | g.30993151T>C | CA494920817 | STX1B | c.765A>G (p.Lys255=) c.513A>G (p.Lys171=) c.747A>G (p.Lys249=) | |
| 16 | g.30993151T>G | CA395646679 | STX1B | c.765A>C (p.Lys255Asn) c.513A>C (p.Lys171Asn) c.747A>C (p.Lys249Asn) | |
| 16 | g.30993152T>A | CA395646688 | STX1B | c.764A>T (p.Lys255Ile) c.512A>T (p.Lys171Ile) c.746A>T (p.Lys249Ile) | |
| 16 | g.30993152T>C | CA395646683 | STX1B | c.764A>G (p.Lys255Arg) c.512A>G (p.Lys171Arg) c.746A>G (p.Lys249Arg) | |
| 16 | g.30993152T>G | CA395646686 | STX1B | c.764A>C (p.Lys255Thr) c.512A>C (p.Lys171Thr) c.746A>C (p.Lys249Thr) | |
| 16 | g.30993153T>A | CA395646691 | STX1B | c.763A>T (p.Lys255Ter) c.511A>T (p.Lys171Ter) c.745A>T (p.Lys249Ter) | |
| 16 | g.30993153T>C | CA395646693 | STX1B | c.763A>G (p.Lys255Glu) c.511A>G (p.Lys171Glu) c.745A>G (p.Lys249Glu) | dbSNP |
| 16 | g.30993153T>G | CA395646695 | STX1B | c.763A>C (p.Lys255Gln) c.511A>C (p.Lys171Gln) c.745A>C (p.Lys249Gln) | |
| 16 | g.30993153T= | CA2216835981 | STX1B | c.763A= (p.Lys255=) c.511A= (p.Lys171=) c.745A= (p.Lys249=) | |
| 16 | g.30993154C>A | CA494920818 | STX1B | c.762G>T (p.Val254=) c.510G>T (p.Val170=) c.744G>T (p.Val248=) | |
| 16 | g.30993154C= | CA2216835985 | STX1B | c.762G= (p.Val254=) c.510G= (p.Val170=) c.744G= (p.Val248=) | |
| 16 | g.30993154C>G | CA494920820 | STX1B | c.762G>C (p.Val254=) c.510G>C (p.Val170=) c.744G>C (p.Val248=) | |
| 16 | g.30993154C>T | CA494920819 | STX1B | c.762G>A (p.Val254=) c.510G>A (p.Val170=) c.744G>A (p.Val248=) | dbSNP |
| 16 | g.30993155A>C | CA395646699 | STX1B | c.761T>G (p.Val254Gly) c.509T>G (p.Val170Gly) c.743T>G (p.Val248Gly) | |
| 16 | g.30993155A>G | CA395646701 | STX1B | c.761T>C (p.Val254Ala) c.509T>C (p.Val170Ala) c.743T>C (p.Val248Ala) | |
| 16 | g.30993155A>T | CA395646703 | STX1B | c.761T>A (p.Val254Glu) c.509T>A (p.Val170Glu) c.743T>A (p.Val248Glu) | |
| 16 | g.30993156C>A | CA395646704 | STX1B | c.760G>T (p.Val254Leu) c.508G>T (p.Val170Leu) c.742G>T (p.Val248Leu) | |
| 16 | g.30993156C>G | CA395646707 | STX1B | c.760G>C (p.Val254Leu) c.508G>C (p.Val170Leu) c.742G>C (p.Val248Leu) | |
| 16 | g.30993156C>T | CA395646710 | STX1B | c.760G>A (p.Val254Met) c.508G>A (p.Val170Met) c.742G>A (p.Val248Met) | |
| 16 | g.30993157T>A | CA494920821 | STX1B | c.759A>T (p.Ala253=) c.507A>T (p.Ala169=) c.741A>T (p.Ala247=) | |
| 16 | g.30993157T>C | CA494920822 | STX1B | c.759A>G (p.Ala253=) c.507A>G (p.Ala169=) c.741A>G (p.Ala247=) | |
| 16 | g.30993157T>G | CA494920823 | STX1B | c.759A>C (p.Ala253=) c.507A>C (p.Ala169=) c.741A>C (p.Ala247=) | |
| 16 | g.30993158G>A | CA395646711 | STX1B | c.758C>T (p.Ala253Val) c.506C>T (p.Ala169Val) c.740C>T (p.Ala247Val) | |
| 16 | g.30993158G>C | CA395646713 | STX1B | c.758C>G (p.Ala253Gly) c.506C>G (p.Ala169Gly) c.740C>G (p.Ala247Gly) | |
| 16 | g.30993158G>T | CA395646714 | STX1B | c.758C>A (p.Ala253Glu) c.506C>A (p.Ala169Glu) c.740C>A (p.Ala247Glu) | |
| 16 | g.30993159C>A | CA395646716 | STX1B | c.757G>T (p.Ala253Ser) c.505G>T (p.Ala169Ser) c.739G>T (p.Ala247Ser) | |
| 16 | g.30993159C>G | CA395646723 | STX1B | c.757G>C (p.Ala253Pro) c.505G>C (p.Ala169Pro) c.739G>C (p.Ala247Pro) | |
| 16 | g.30993159C>T | CA395646719 | STX1B | c.757G>A (p.Ala253Thr) c.505G>A (p.Ala169Thr) c.739G>A (p.Ala247Thr) | |
| 16 | g.30993160T>A | CA395646727 | STX1B | c.756A>T (p.Lys252Asn) c.504A>T (p.Lys168Asn) c.738A>T (p.Lys246Asn) | |
| 16 | g.30993160T>C | CA494920824 | STX1B | c.756A>G (p.Lys252=) c.504A>G (p.Lys168=) c.738A>G (p.Lys246=) | gnomAD v4 |
| 16 | g.30993160T>G | CA395646729 | STX1B | c.756A>C (p.Lys252Asn) c.504A>C (p.Lys168Asn) c.738A>C (p.Lys246Asn) | |
| 16 | g.30993161T>A | CA16607299 | STX1B | c.755A>T (p.Lys252Ile) c.503A>T (p.Lys168Ile) c.737A>T (p.Lys246Ile) | ClinVar dbSNP |
| 16 | g.30993161T>C | CA395646732 | STX1B | c.755A>G (p.Lys252Arg) c.503A>G (p.Lys168Arg) c.737A>G (p.Lys246Arg) | |
| 16 | g.30993161T>G | CA395646734 | STX1B | c.755A>C (p.Lys252Thr) c.503A>C (p.Lys168Thr) c.737A>C (p.Lys246Thr) | |
| 16 | g.30993161T= | CA2216835991 | STX1B | c.755A= (p.Lys252=) c.503A= (p.Lys168=) c.737A= (p.Lys246=) | |
| 16 | g.30993162T>A | CA395646737 | STX1B | c.754A>T (p.Lys252Ter) c.502A>T (p.Lys168Ter) c.736A>T (p.Lys246Ter) | |
| 16 | g.30993162T>C | CA395646738 | STX1B | c.754A>G (p.Lys252Glu) c.502A>G (p.Lys168Glu) c.736A>G (p.Lys246Glu) | |
| 16 | g.30993162T>G | CA395646741 | STX1B | c.754A>C (p.Lys252Gln) c.502A>C (p.Lys168Gln) c.736A>C (p.Lys246Gln) | gnomAD v4 |
| 16 | g.30993163C>A | CA395646747 | STX1B | c.753G>T (p.Lys251Asn) c.501G>T (p.Lys167Asn) c.735G>T (p.Lys245Asn) | |
| 16 | g.30993163C>G | CA395646749 | STX1B | c.753G>C (p.Lys251Asn) c.501G>C (p.Lys167Asn) c.735G>C (p.Lys245Asn) | |
| 16 | g.30993163C>T | CA494920825 | STX1B | c.753G>A (p.Lys251=) c.501G>A (p.Lys167=) c.735G>A (p.Lys245=) | gnomAD v4 |
| 16 | g.30993164T>A | CA395646751 | STX1B | c.752A>T (p.Lys251Met) c.500A>T (p.Lys167Met) c.734A>T (p.Lys245Met) | |
| 16 | g.30993164T>C | CA395646752 | STX1B | c.752A>G (p.Lys251Arg) c.500A>G (p.Lys167Arg) c.734A>G (p.Lys245Arg) | |
| 16 | g.30993164T>G | CA395646754 | STX1B | c.752A>C (p.Lys251Thr) c.500A>C (p.Lys167Thr) c.734A>C (p.Lys245Thr) | |
| 16 | g.30993165T>A | CA395646758 | STX1B | c.751A>T (p.Lys251Ter) c.499A>T (p.Lys167Ter) c.733A>T (p.Lys245Ter) | |
| 16 | g.30993165T>C | CA395646756 | STX1B | c.751A>G (p.Lys251Glu) c.499A>G (p.Lys167Glu) c.733A>G (p.Lys245Glu) | |
| 16 | g.30993165T>G | CA395646755 | STX1B | c.751A>C (p.Lys251Gln) c.499A>C (p.Lys167Gln) c.733A>C (p.Lys245Gln) | |
| 16 | g.30993166G>A | CA494920826 | STX1B | c.750C>T (p.Thr250=) c.498C>T (p.Thr166=) c.732C>T (p.Thr244=) | |
| 16 | g.30993166G>C | CA494920827 | STX1B | c.750C>G (p.Thr250=) c.498C>G (p.Thr166=) c.732C>G (p.Thr244=) | |
| 16 | g.30993166G>T | CA494920828 | STX1B | c.750C>A (p.Thr250=) c.498C>A (p.Thr166=) c.732C>A (p.Thr244=) | |
| 16 | g.30993167G>A | CA395646761 | STX1B | c.749C>T (p.Thr250Ile) c.497C>T (p.Thr166Ile) c.731C>T (p.Thr244Ile) | |
| 16 | g.30993167G>C | CA395646762 | STX1B | c.749C>G (p.Thr250Ser) c.497C>G (p.Thr166Ser) c.731C>G (p.Thr244Ser) | |
| 16 | g.30993167G>T | CA395646763 | STX1B | c.749C>A (p.Thr250Asn) c.497C>A (p.Thr166Asn) c.731C>A (p.Thr244Asn) | |
| 16 | g.30993168T>A | CA395646764 | STX1B | c.748A>T (p.Thr250Ser) c.496A>T (p.Thr166Ser) c.730A>T (p.Thr244Ser) | |
| 16 | g.30993168T>C | CA395646765 | STX1B | c.748A>G (p.Thr250Ala) c.496A>G (p.Thr166Ala) c.730A>G (p.Thr244Ala) | |
| 16 | g.30993168T>G | CA395646766 | STX1B | c.748A>C (p.Thr250Pro) c.496A>C (p.Thr166Pro) c.730A>C (p.Thr244Pro) | |
| 16 | g.30993169G>A | CA494920829 | STX1B | c.747C>T (p.Asp249=) c.495C>T (p.Asp165=) c.729C>T (p.Asp243=) | |
| 16 | g.30993169G>C | CA395646767 | STX1B | c.747C>G (p.Asp249Glu) c.495C>G (p.Asp165Glu) c.729C>G (p.Asp243Glu) | |
| 16 | g.30993169G= | CA2216835997 | STX1B | c.747C= (p.Asp249=) c.495C= (p.Asp165=) c.729C= (p.Asp243=) | |
| 16 | g.30993169G>T | CA8018277 | STX1B | c.747C>A (p.Asp249Glu) c.495C>A (p.Asp165Glu) c.729C>A (p.Asp243Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30993170T>A | CA395646770 | STX1B | c.746A>T (p.Asp249Val) c.494A>T (p.Asp165Val) c.728A>T (p.Asp243Val) | |
| 16 | g.30993170T>C | CA395646772 | STX1B | c.746A>G (p.Asp249Gly) c.494A>G (p.Asp165Gly) c.728A>G (p.Asp243Gly) | |
| 16 | g.30993170T>G | CA395646774 | STX1B | c.746A>C (p.Asp249Ala) c.494A>C (p.Asp165Ala) c.728A>C (p.Asp243Ala) | |
| 16 | g.30993171C>A | CA395646775 | STX1B | c.745G>T (p.Asp249Tyr) c.493G>T (p.Asp165Tyr) c.727G>T (p.Asp243Tyr) | |
| 16 | g.30993171C>G | CA395646776 | STX1B | c.745G>C (p.Asp249His) c.493G>C (p.Asp165His) c.727G>C (p.Asp243His) | |
| 16 | g.30993171C>T | CA395646777 | STX1B | c.745G>A (p.Asp249Asn) c.493G>A (p.Asp165Asn) c.727G>A (p.Asp243Asn) | |
| 16 | g.30993172A>C | CA494920830 | STX1B | c.744T>G (p.Ser248=) c.492T>G (p.Ser164=) c.726T>G (p.Ser242=) | |
| 16 | g.30993172A>G | CA494920831 | STX1B | c.744T>C (p.Ser248=) c.492T>C (p.Ser164=) c.726T>C (p.Ser242=) | |
| 16 | g.30993172A>T | CA494920832 | STX1B | c.744T>A (p.Ser248=) c.492T>A (p.Ser164=) c.726T>A (p.Ser242=) | |
| 16 | g.30993173G>A | CA395646794 | STX1B | c.743C>T (p.Ser248Phe) c.491C>T (p.Ser164Phe) c.725C>T (p.Ser242Phe) | |
| 16 | g.30993173G>C | CA395646781 | STX1B | c.743C>G (p.Ser248Cys) c.491C>G (p.Ser164Cys) c.725C>G (p.Ser242Cys) | |
| 16 | g.30993173G>T | CA395646779 | STX1B | c.743C>A (p.Ser248Tyr) c.491C>A (p.Ser164Tyr) c.725C>A (p.Ser242Tyr) | |
| 16 | g.30993174A>C | CA395646797 | STX1B | c.742T>G (p.Ser248Ala) c.490T>G (p.Ser164Ala) c.724T>G (p.Ser242Ala) | |
| 16 | g.30993174A>G | CA395646799 | STX1B | c.742T>C (p.Ser248Pro) c.490T>C (p.Ser164Pro) c.724T>C (p.Ser242Pro) | |
| 16 | g.30993174A>T | CA395646801 | STX1B | c.742T>A (p.Ser248Thr) c.490T>A (p.Ser164Thr) c.724T>A (p.Ser242Thr) | |
| 16 | g.30993175C>A | CA494920833 | STX1B | c.741G>T (p.Val247=) c.489G>T (p.Val163=) c.723G>T (p.Val241=) | |
| 16 | g.30993175C= | CA2216836002 | STX1B | c.741G= (p.Val247=) c.489G= (p.Val163=) c.723G= (p.Val241=) | |
| 16 | g.30993175C>G | CA494920834 | STX1B | c.741G>C (p.Val247=) c.489G>C (p.Val163=) c.723G>C (p.Val241=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30993175C>T | CA494920835 | STX1B | c.741G>A (p.Val247=) c.489G>A (p.Val163=) c.723G>A (p.Val241=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.30993176A>C | CA395646803 | STX1B | c.740T>G (p.Val247Gly) c.488T>G (p.Val163Gly) c.722T>G (p.Val241Gly) | |
| 16 | g.30993176A>G | CA395646804 | STX1B | c.740T>C (p.Val247Ala) c.488T>C (p.Val163Ala) c.722T>C (p.Val241Ala) | |
| 16 | g.30993176A>T | CA395646806 | STX1B | c.740T>A (p.Val247Glu) c.488T>A (p.Val163Glu) c.722T>A (p.Val241Glu) | |
| 16 | g.30993177C>A | CA395646808 | STX1B | c.739G>T (p.Val247Leu) c.487G>T (p.Val163Leu) c.721G>T (p.Val241Leu) | |
| 16 | g.30993177C>G | CA395646810 | STX1B | c.739G>C (p.Val247Leu) c.487G>C (p.Val163Leu) c.721G>C (p.Val241Leu) | gnomAD v4 |
| 16 | g.30993177C>T | CA395646812 | STX1B | c.739G>A (p.Val247Met) c.487G>A (p.Val163Met) c.721G>A (p.Val241Met) | gnomAD v4 |
| 16 | g.30993178A= | CA2216836009 | STX1B | c.738T= (p.Ala246=) c.486T= (p.Ala162=) c.720T= (p.Ala240=) | |
| 16 | g.30993178A>C | CA494920836 | STX1B | c.738T>G (p.Ala246=) c.486T>G (p.Ala162=) c.720T>G (p.Ala240=) | dbSNP |
| 16 | g.30993178A>G | CA494920837 | STX1B | c.738T>C (p.Ala246=) c.486T>C (p.Ala162=) c.720T>C (p.Ala240=) | |
| 16 | g.30993178A>T | CA494920838 | STX1B | c.738T>A (p.Ala246=) c.486T>A (p.Ala162=) c.720T>A (p.Ala240=) | |
| 16 | g.30993179G>A | CA395646813 | STX1B | c.737C>T (p.Ala246Val) c.485C>T (p.Ala162Val) c.719C>T (p.Ala240Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30993179G>C | CA395646814 | STX1B | c.737C>G (p.Ala246Gly) c.485C>G (p.Ala162Gly) c.719C>G (p.Ala240Gly) | |
| 16 | g.30993179G= | CA2216836013 | STX1B | c.737C= (p.Ala246=) c.485C= (p.Ala162=) c.719C= (p.Ala240=) | |
| 16 | g.30993179G>T | CA395646815 | STX1B | c.737C>A (p.Ala246Asp) c.485C>A (p.Ala162Asp) c.719C>A (p.Ala240Asp) | |
| 16 | g.30993180C>A | CA395646818 | STX1B | c.736G>T (p.Ala246Ser) c.484G>T (p.Ala162Ser) c.718G>T (p.Ala240Ser) | |
| 16 | g.30993180C= | CA2216836018 | STX1B | c.736G= (p.Ala246=) c.484G= (p.Ala162=) c.718G= (p.Ala240=) | |
| 16 | g.30993180C>G | CA395646817 | STX1B | c.736G>C (p.Ala246Pro) c.484G>C (p.Ala162Pro) c.718G>C (p.Ala240Pro) | ClinVar dbSNP |
| 16 | g.30993180C>T | CA395646816 | STX1B | c.736G>A (p.Ala246Thr) c.484G>A (p.Ala162Thr) c.718G>A (p.Ala240Thr) | |
| 16 | g.30993181T>A | CA494920839 | STX1B | c.735A>T (p.Arg245=) c.483A>T (p.Arg161=) c.717A>T (p.Arg239=) | |
| 16 | g.30993181T>C | CA494920840 | STX1B | c.735A>G (p.Arg245=) c.483A>G (p.Arg161=) c.717A>G (p.Arg239=) | |
| 16 | g.30993181T>G | CA494920841 | STX1B | c.735A>C (p.Arg245=) c.483A>C (p.Arg161=) c.717A>C (p.Arg239=) | |
| 16 | g.30993182C>A | CA395646819 | STX1B | c.734G>T (p.Arg245Leu) c.482G>T (p.Arg161Leu) c.716G>T (p.Arg239Leu) | |
| 16 | g.30993182C= | CA2216836024 | STX1B | c.734G= (p.Arg245=) c.482G= (p.Arg161=) c.716G= (p.Arg239=) | |
| 16 | g.30993182C>G | CA395646821 | STX1B | c.734G>C (p.Arg245Pro) c.482G>C (p.Arg161Pro) c.716G>C (p.Arg239Pro) | |
| 16 | g.30993182C>T | CA395646822 | STX1B | c.734G>A (p.Arg245Gln) c.482G>A (p.Arg161Gln) c.716G>A (p.Arg239Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30993183G>A | CA395646823 | STX1B | c.733C>T (p.Arg245Ter) c.481C>T (p.Arg161Ter) c.715C>T (p.Arg239Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.30993183G>C | CA8018278 | STX1B | c.733C>G (p.Arg245Gly) c.481C>G (p.Arg161Gly) c.715C>G (p.Arg239Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.30993183G= | CA2216836030 | STX1B | c.733C= (p.Arg245=) c.481C= (p.Arg161=) c.715C= (p.Arg239=) | |
| 16 | g.30993183G>T | CA494920842 | STX1B | c.733C>A (p.Arg245=) c.481C>A (p.Arg161=) c.715C>A (p.Arg239=) | dbSNP |
| 16 | g.30993184C>A | CA395646824 | STX1B | c.732G>T (p.Glu244Asp) c.480G>T (p.Glu160Asp) c.714G>T (p.Glu238Asp) | |
| 16 | g.30993184C= | CA2216836039 | STX1B | c.732G= (p.Glu244=) c.480G= (p.Glu160=) c.714G= (p.Glu238=) | |
| 16 | g.30993184C>G | CA395646825 | STX1B | c.732G>C (p.Glu244Asp) c.480G>C (p.Glu160Asp) c.714G>C (p.Glu238Asp) | |
| 16 | g.30993184C>T | CA494920843 | STX1B | c.732G>A (p.Glu244=) c.480G>A (p.Glu160=) c.714G>A (p.Glu238=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30993185T>A | CA395646826 | STX1B | c.731A>T (p.Glu244Val) c.479A>T (p.Glu160Val) c.713A>T (p.Glu238Val) | |
| 16 | g.30993185T>C | CA395646827 | STX1B | c.731A>G (p.Glu244Gly) c.479A>G (p.Glu160Gly) c.713A>G (p.Glu238Gly) | |
| 16 | g.30993185T>G | CA395646828 | STX1B | c.731A>C (p.Glu244Ala) c.479A>C (p.Glu160Ala) c.713A>C (p.Glu238Ala) | |
| 16 | g.30993186C>A | CA395646829 | STX1B | c.730G>T (p.Glu244Ter) c.478G>T (p.Glu160Ter) c.712G>T (p.Glu238Ter) | |
| 16 | g.30993186C= | CA2216836042 | STX1B | c.730G= (p.Glu244=) c.478G= (p.Glu160=) c.712G= (p.Glu238=) | |
| 16 | g.30993186C>G | CA395646830 | STX1B | c.730G>C (p.Glu244Gln) c.478G>C (p.Glu160Gln) c.712G>C (p.Glu238Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30993186C>T | CA395646831 | STX1B | c.730G>A (p.Glu244Lys) c.478G>A (p.Glu160Lys) c.712G>A (p.Glu238Lys) | COSMIC |
| 16 | g.30993187C>A | CA494920844 | STX1B | c.729G>T (p.Val243=) c.477G>T (p.Val159=) c.711G>T (p.Val237=) | |
| 16 | g.30993187C>G | CA494920845 | STX1B | c.729G>C (p.Val243=) c.477G>C (p.Val159=) c.711G>C (p.Val237=) | |
| 16 | g.30993187C>T | CA494920846 | STX1B | c.729G>A (p.Val243=) c.477G>A (p.Val159=) c.711G>A (p.Val237=) | |
| 16 | g.30993188A>C | CA395646833 | STX1B | c.728T>G (p.Val243Gly) c.476T>G (p.Val159Gly) c.710T>G (p.Val237Gly) | |
| 16 | g.30993188A>G | CA395646834 | STX1B | c.728T>C (p.Val243Ala) c.476T>C (p.Val159Ala) c.710T>C (p.Val237Ala) | |
| 16 | g.30993188A>T | CA395646832 | STX1B | c.728T>A (p.Val243Glu) c.476T>A (p.Val159Glu) c.710T>A (p.Val237Glu) | |
| 16 | g.30993189C>A | CA395646835 | STX1B | c.727G>T (p.Val243Leu) c.475G>T (p.Val159Leu) c.709G>T (p.Val237Leu) | |
| 16 | g.30993189C>G | CA395646836 | STX1B | c.727G>C (p.Val243Leu) c.475G>C (p.Val159Leu) c.709G>C (p.Val237Leu) | |
| 16 | g.30993189C>T | CA395646837 | STX1B | c.727G>A (p.Val243Met) c.475G>A (p.Val159Met) c.709G>A (p.Val237Met) | COSMIC |
| 16 | g.30993190G>A | CA8018279 | STX1B | c.726C>T (p.Tyr242=) c.474C>T (p.Tyr158=) c.708C>T (p.Tyr236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30993190G>C | CA395646838 | STX1B | c.726C>G (p.Tyr242Ter) c.474C>G (p.Tyr158Ter) c.708C>G (p.Tyr236Ter) | |
| 16 | g.30993190G= | CA2216836053 | STX1B | c.726C= (p.Tyr242=) c.474C= (p.Tyr158=) c.708C= (p.Tyr236=) | |
| 16 | g.30993190G>T | CA395646839 | STX1B | c.726C>A (p.Tyr242Ter) c.474C>A (p.Tyr158Ter) c.708C>A (p.Tyr236Ter) | |
| 16 | g.30993191T>A | CA395646842 | STX1B | c.725A>T (p.Tyr242Phe) c.473A>T (p.Tyr158Phe) c.707A>T (p.Tyr236Phe) | |
| 16 | g.30993191T>C | CA395646840 | STX1B | c.725A>G (p.Tyr242Cys) c.473A>G (p.Tyr158Cys) c.707A>G (p.Tyr236Cys) | gnomAD v4 |
| 16 | g.30993191T>G | CA395646841 | STX1B | c.725A>C (p.Tyr242Ser) c.473A>C (p.Tyr158Ser) c.707A>C (p.Tyr236Ser) | |
| 16 | g.30993192A>C | CA395646843 | STX1B | c.724T>G (p.Tyr242Asp) c.472T>G (p.Tyr158Asp) c.706T>G (p.Tyr236Asp) | |
| 16 | g.30993192A>G | CA395646844 | STX1B | c.724T>C (p.Tyr242His) c.472T>C (p.Tyr158His) c.706T>C (p.Tyr236His) | |
| 16 | g.30993192A>T | CA395646845 | STX1B | c.724T>A (p.Tyr242Asn) c.472T>A (p.Tyr158Asn) c.706T>A (p.Tyr236Asn) | |
| 16 | g.30993193G>A | CA494920847 | STX1B | c.723C>T (p.Asp241=) c.471C>T (p.Asp157=) c.705C>T (p.Asp235=) | |
| 16 | g.30993193G>C | CA395646846 | STX1B | c.723C>G (p.Asp241Glu) c.471C>G (p.Asp157Glu) c.705C>G (p.Asp235Glu) | |
| 16 | g.30993193G>T | CA395646847 | STX1B | c.723C>A (p.Asp241Glu) c.471C>A (p.Asp157Glu) c.705C>A (p.Asp235Glu) | |
| 16 | g.30993194T>A | CA395646850 | STX1B | c.722A>T (p.Asp241Val) c.470A>T (p.Asp157Val) c.704A>T (p.Asp235Val) | |
| 16 | g.30993194T>C | CA395646848 | STX1B | c.722A>G (p.Asp241Gly) c.470A>G (p.Asp157Gly) c.704A>G (p.Asp235Gly) | |
| 16 | g.30993194T>G | CA395646849 | STX1B | c.722A>C (p.Asp241Ala) c.470A>C (p.Asp157Ala) c.704A>C (p.Asp235Ala) | |
| 16 | g.30993195C>A | CA395646851 | STX1B | c.721G>T (p.Asp241Tyr) c.469G>T (p.Asp157Tyr) c.703G>T (p.Asp235Tyr) | |
| 16 | g.30993195C>G | CA395646852 | STX1B | c.721G>C (p.Asp241His) c.469G>C (p.Asp157His) c.703G>C (p.Asp235His) | |
| 16 | g.30993195C>T | CA395646853 | STX1B | c.721G>A (p.Asp241Asn) c.469G>A (p.Asp157Asn) c.703G>A (p.Asp235Asn) | |
| 16 | g.30993196C>A | CA494920848 | STX1B | c.720G>T (p.Val240=) c.468G>T (p.Val156=) c.702G>T (p.Val234=) | |
| 16 | g.30993196C>G | CA494920849 | STX1B | c.720G>C (p.Val240=) c.468G>C (p.Val156=) c.702G>C (p.Val234=) | |
| 16 | g.30993196C>T | CA494920850 | STX1B | c.720G>A (p.Val240=) c.468G>A (p.Val156=) c.702G>A (p.Val234=) | |
| 16 | g.30993197A>C | CA395646854 | STX1B | c.719T>G (p.Val240Gly) c.467T>G (p.Val156Gly) c.701T>G (p.Val234Gly) | |
| 16 | g.30993197A>G | CA395646855 | STX1B | c.719T>C (p.Val240Ala) c.467T>C (p.Val156Ala) c.701T>C (p.Val234Ala) | |
| 16 | g.30993197A>T | CA395646856 | STX1B | c.719T>A (p.Val240Glu) c.467T>A (p.Val156Glu) c.701T>A (p.Val234Glu) | |
| 16 | g.30993198C>A | CA395646857 | STX1B | c.718G>T (p.Val240Leu) c.466G>T (p.Val156Leu) c.700G>T (p.Val234Leu) | |
| 16 | g.30993198C= | CA2216836057 | STX1B | c.718G= (p.Val240=) c.466G= (p.Val156=) c.700G= (p.Val234=) | |
| 16 | g.30993198C>G | CA395646858 | STX1B | c.718G>C (p.Val240Leu) c.466G>C (p.Val156Leu) c.700G>C (p.Val234Leu) | gnomAD v4 |
| 16 | g.30993198C>T | CA395646859 | STX1B | c.718G>A (p.Val240Met) c.466G>A (p.Val156Met) c.700G>A (p.Val234Met) | dbSNP gnomAD v2 |
| 16 | g.30993199A>C | CA494920851 | STX1B | c.717T>G (p.Ser239=) c.465T>G (p.Ser155=) c.699T>G (p.Ser233=) | |
| 16 | g.30993199A>G | CA494920852 | STX1B | c.717T>C (p.Ser239=) c.465T>C (p.Ser155=) c.699T>C (p.Ser233=) | |
| 16 | g.30993199A>T | CA494920853 | STX1B | c.717T>A (p.Ser239=) c.465T>A (p.Ser155=) c.699T>A (p.Ser233=) | |
| 16 | g.30993200G>A | CA395646860 | STX1B | c.716C>T (p.Ser239Phe) c.464C>T (p.Ser155Phe) c.698C>T (p.Ser233Phe) | ClinVar dbSNP |
| 16 | g.30993200G>C | CA395646861 | STX1B | c.716C>G (p.Ser239Cys) c.464C>G (p.Ser155Cys) c.698C>G (p.Ser233Cys) | |
| 16 | g.30993200G>T | CA395646862 | STX1B | c.716C>A (p.Ser239Tyr) c.464C>A (p.Ser155Tyr) c.698C>A (p.Ser233Tyr) | |
| 16 | g.30993201A= | CA2216836064 | STX1B | c.715T= (p.Ser239=) c.463T= (p.Ser155=) c.697T= (p.Ser233=) | |
| 16 | g.30993201A>C | CA395646863 | STX1B | c.715T>G (p.Ser239Ala) c.463T>G (p.Ser155Ala) c.697T>G (p.Ser233Ala) | |
| 16 | g.30993201A>G | CA395646865 | STX1B | c.715T>C (p.Ser239Pro) c.463T>C (p.Ser155Pro) c.697T>C (p.Ser233Pro) | ClinVar dbSNP |
| 16 | g.30993201A>T | CA395646864 | STX1B | c.715T>A (p.Ser239Thr) c.463T>A (p.Ser155Thr) c.697T>A (p.Ser233Thr) | |
| 16 | g.30993202A>C | CA395646866 | STX1B | c.714T>G (p.His238Gln) c.462T>G (p.His154Gln) c.696T>G (p.His232Gln) | |
| 16 | g.30993202A>G | CA494920855 | STX1B | c.714T>C (p.His238=) c.462T>C (p.His154=) c.696T>C (p.His232=) | |
| 16 | g.30993202A>T | CA395646867 | STX1B | c.714T>A (p.His238Gln) c.462T>A (p.His154Gln) c.696T>A (p.His232Gln) | |
| 16 | g.30993203T>A | CA395646868 | STX1B | c.713A>T (p.His238Leu) c.461A>T (p.His154Leu) c.695A>T (p.His232Leu) | |
| 16 | g.30993203T>C | CA395646869 | STX1B | c.713A>G (p.His238Arg) c.461A>G (p.His154Arg) c.695A>G (p.His232Arg) | ClinVar dbSNP |
| 16 | g.30993203T>G | CA395646870 | STX1B | c.713A>C (p.His238Pro) c.461A>C (p.His154Pro) c.695A>C (p.His232Pro) | |
| 16 | g.30993203T= | CA2216836073 | STX1B | c.713A= (p.His238=) c.461A= (p.His154=) c.695A= (p.His232=) | |
| 16 | g.30993204G>A | CA8018280 | STX1B | c.712C>T (p.His238Tyr) c.460C>T (p.His154Tyr) c.694C>T (p.His232Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30993204G>C | CA395646871 | STX1B | c.712C>G (p.His238Asp) c.460C>G (p.His154Asp) c.694C>G (p.His232Asp) | |
| 16 | g.30993204G= | CA2216836081 | STX1B | c.712C= (p.His238=) c.460C= (p.His154=) c.694C= (p.His232=) | |
| 16 | g.30993204G>T | CA395646872 | STX1B | c.712C>A (p.His238Asn) c.460C>A (p.His154Asn) c.694C>A (p.His232Asn) | ClinVar dbSNP |
| 16 | g.30993205T>A | CA395646873 | STX1B | c.711A>T (p.Glu237Asp) c.459A>T (p.Glu153Asp) c.693A>T (p.Glu231Asp) | |
| 16 | g.30993205T>C | CA494920857 | STX1B | c.711A>G (p.Glu237=) c.459A>G (p.Glu153=) c.693A>G (p.Glu231=) | |
| 16 | g.30993205T>G | CA395646874 | STX1B | c.711A>C (p.Glu237Asp) c.459A>C (p.Glu153Asp) c.693A>C (p.Glu231Asp) | |
| 16 | g.30993206T>A | CA395646875 | STX1B | c.710A>T (p.Glu237Val) c.458A>T (p.Glu153Val) c.692A>T (p.Glu231Val) | |
| 16 | g.30993206T>C | CA395646876 | STX1B | c.710A>G (p.Glu237Gly) c.458A>G (p.Glu153Gly) c.692A>G (p.Glu231Gly) | |
| 16 | g.30993206T>G | CA395646877 | STX1B | c.710A>C (p.Glu237Ala) c.458A>C (p.Glu153Ala) c.692A>C (p.Glu231Ala) | |
| 16 | g.30993207C>A | CA395646878 | STX1B | c.709G>T (p.Glu237Ter) c.457G>T (p.Glu153Ter) c.691G>T (p.Glu231Ter) | |
| 16 | g.30993207C>G | CA395646880 | STX1B | c.709G>C (p.Glu237Gln) c.457G>C (p.Glu153Gln) c.691G>C (p.Glu231Gln) | |
| 16 | g.30993207C>T | CA395646879 | STX1B | c.709G>A (p.Glu237Lys) c.457G>A (p.Glu153Lys) c.691G>A (p.Glu231Lys) | COSMIC |
| 16 | g.30993208C>A | CA494920858 | STX1B | c.708G>T (p.Val236=) c.456G>T (p.Val152=) c.690G>T (p.Val230=) | |
| 16 | g.30993208C= | CA2216836084 | STX1B | c.708G= (p.Val236=) c.456G= (p.Val152=) c.690G= (p.Val230=) | |
| 16 | g.30993208C>G | CA494920859 | STX1B | c.708G>C (p.Val236=) c.456G>C (p.Val152=) c.690G>C (p.Val230=) | |
| 16 | g.30993208C>T | CA494920861 | STX1B | c.708G>A (p.Val236=) c.456G>A (p.Val152=) c.690G>A (p.Val230=) | dbSNP gnomAD v4 |
| 16 | g.30993209A>C | CA395646881 | STX1B | c.707T>G (p.Val236Gly) c.455T>G (p.Val152Gly) c.689T>G (p.Val230Gly) | |
| 16 | g.30993209A>G | CA395646882 | STX1B | c.707T>C (p.Val236Ala) c.455T>C (p.Val152Ala) c.689T>C (p.Val230Ala) | |
| 16 | g.30993209A>T | CA395646883 | STX1B | c.707T>A (p.Val236Glu) c.455T>A (p.Val152Glu) c.689T>A (p.Val230Glu) | |
| 16 | g.30993210C>A | CA395646884 | STX1B | c.706G>T (p.Val236Leu) c.454G>T (p.Val152Leu) c.688G>T (p.Val230Leu) | |
| 16 | g.30993210C= | CA2216836090 | STX1B | c.706G= (p.Val236=) c.454G= (p.Val152=) c.688G= (p.Val230=) | |
| 16 | g.30993210C>G | CA395646885 | STX1B | c.706G>C (p.Val236Leu) c.454G>C (p.Val152Leu) c.688G>C (p.Val230Leu) | |
| 16 | g.30993210C>T | CA8018281 | STX1B | c.706G>A (p.Val236Met) c.454G>A (p.Val152Met) c.688G>A (p.Val230Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30993211G>A | CA8018282 | STX1B | c.705C>T (p.Asn235=) c.453C>T (p.Asn151=) c.687C>T (p.Asn229=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.30993211G>C | CA395646886 | STX1B | c.705C>G (p.Asn235Lys) c.453C>G (p.Asn151Lys) c.687C>G (p.Asn229Lys) | |
| 16 | g.30993211G= | CA2216836097 | STX1B | c.705C= (p.Asn235=) c.453C= (p.Asn151=) c.687C= (p.Asn229=) | |
| 16 | g.30993211G>T | CA395646887 | STX1B | c.705C>A (p.Asn235Lys) c.453C>A (p.Asn151Lys) c.687C>A (p.Asn229Lys) | |
| 16 | g.30993212T>A | CA395646890 | STX1B | c.704A>T (p.Asn235Ile) c.452A>T (p.Asn151Ile) c.686A>T (p.Asn229Ile) | |
| 16 | g.30993212T>C | CA395646889 | STX1B | c.704A>G (p.Asn235Ser) c.452A>G (p.Asn151Ser) c.686A>G (p.Asn229Ser) | |
| 16 | g.30993212T>G | CA395646888 | STX1B | c.704A>C (p.Asn235Thr) c.452A>C (p.Asn151Thr) c.686A>C (p.Asn229Thr) | |
| 16 | g.30993213T>A | CA395646892 | STX1B | c.703A>T (p.Asn235Tyr) c.451A>T (p.Asn151Tyr) c.685A>T (p.Asn229Tyr) | |
| 16 | g.30993213T>C | CA395646893 | STX1B | c.703A>G (p.Asn235Asp) c.451A>G (p.Asn151Asp) c.685A>G (p.Asn229Asp) | |
| 16 | g.30993213T>G | CA395646895 | STX1B | c.703A>C (p.Asn235His) c.451A>C (p.Asn151His) c.685A>C (p.Asn229His) | |
| 16 | g.30993214G>A | CA8018283 | STX1B | c.702C>T (p.Tyr234=) c.450C>T (p.Tyr150=) c.684C>T (p.Tyr228=) | dbSNP ExAC gnomAD v2 |
| 16 | g.30993214G>C | CA395646897 | STX1B | c.702C>G (p.Tyr234Ter) c.450C>G (p.Tyr150Ter) c.684C>G (p.Tyr228Ter) | |
| 16 | g.30993214G= | CA2216836103 | STX1B | c.702C= (p.Tyr234=) c.450C= (p.Tyr150=) c.684C= (p.Tyr228=) | |
| 16 | g.30993214G>T | CA395646898 | STX1B | c.702C>A (p.Tyr234Ter) c.450C>A (p.Tyr150Ter) c.684C>A (p.Tyr228Ter) | |
| 16 | g.30993214_30993215insCGGTCAATGT | CA2573152353 | STX1B | c.701_702insACATTGACCG (p.Tyr234Ter) c.449_450insACATTGACCG (p.Tyr150Ter) c.683_684insACATTGACCG (p.Tyr228Ter) | ClinVar dbSNP |
| 16 | g.30993215T>A | CA395646901 | STX1B | c.701A>T (p.Tyr234Phe) c.449A>T (p.Tyr150Phe) c.683A>T (p.Tyr228Phe) | |
| 16 | g.30993215T>C | CA395646902 | STX1B | c.701A>G (p.Tyr234Cys) c.449A>G (p.Tyr150Cys) c.683A>G (p.Tyr228Cys) | |
| 16 | g.30993215T>G | CA395646904 | STX1B | c.701A>C (p.Tyr234Ser) c.449A>C (p.Tyr150Ser) c.683A>C (p.Tyr228Ser) | |
| 16 | g.30993216A>C | CA395646905 | STX1B | c.700T>G (p.Tyr234Asp) c.448T>G (p.Tyr150Asp) c.682T>G (p.Tyr228Asp) | |
| 16 | g.30993216A>G | CA395646907 | STX1B | c.700T>C (p.Tyr234His) c.448T>C (p.Tyr150His) c.682T>C (p.Tyr228His) | gnomAD v4 |
| 16 | g.30993216A>T | CA395646909 | STX1B | c.700T>A (p.Tyr234Asn) c.448T>A (p.Tyr150Asn) c.682T>A (p.Tyr228Asn) | |
| 16 | g.30993217C>A | CA395646911 | STX1B | c.699G>T (p.Glu233Asp) c.447G>T (p.Glu149Asp) c.681G>T (p.Glu227Asp) | ClinVar |
| 16 | g.30993217C= | CA2216836109 | STX1B | c.699G= (p.Glu233=) c.447G= (p.Glu149=) c.681G= (p.Glu227=) | |
| 16 | g.30993217C>G | CA280568546 | STX1B | c.699G>C (p.Glu233Asp) c.447G>C (p.Glu149Asp) c.681G>C (p.Glu227Asp) | dbSNP |
| 16 | g.30993217C>T | CA494920862 | STX1B | c.699G>A (p.Glu233=) c.447G>A (p.Glu149=) c.681G>A (p.Glu227=) | |
| 16 | g.30993218T>A | CA395646916 | STX1B | c.698A>T (p.Glu233Val) c.446A>T (p.Glu149Val) c.680A>T (p.Glu227Val) | |
| 16 | g.30993218T>C | CA395646914 | STX1B | c.698A>G (p.Glu233Gly) c.446A>G (p.Glu149Gly) c.680A>G (p.Glu227Gly) | |
| 16 | g.30993218T>G | CA395646913 | STX1B | c.698A>C (p.Glu233Ala) c.446A>C (p.Glu149Ala) c.680A>C (p.Glu227Ala) | |
| 16 | g.30993219del | CA2632804523 | STX1B | c.697del (p.Glu233SerfsTer22) c.445del (p.Glu149SerfsTer22) c.679del (p.Glu227SerfsTer22) | gnomAD v4 |
| 16 | g.30993219C>A | CA395646917 | STX1B | c.697G>T (p.Glu233Ter) c.445G>T (p.Glu149Ter) c.679G>T (p.Glu227Ter) | |
| 16 | g.30993219C= | CA2216836114 | STX1B | c.697G= (p.Glu233=) c.445G= (p.Glu149=) c.679G= (p.Glu227=) | |
| 16 | g.30993219C>G | CA395646919 | STX1B | c.697G>C (p.Glu233Gln) c.445G>C (p.Glu149Gln) c.679G>C (p.Glu227Gln) | |
| 16 | g.30993219C>T | CA395646920 | STX1B | c.697G>A (p.Glu233Lys) c.445G>A (p.Glu149Lys) c.679G>A (p.Glu227Lys) | ClinVar dbSNP COSMIC |
| 16 | g.30993220G>A | CA8018284 | STX1B | c.696C>T (p.Ile232=) c.444C>T (p.Ile148=) c.678C>T (p.Ile226=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.30993220G>C | CA395646923 | STX1B | c.696C>G (p.Ile232Met) c.444C>G (p.Ile148Met) c.678C>G (p.Ile226Met) | ClinVar |
| 16 | g.30993220G= | CA2216836121 | STX1B | c.696C= (p.Ile232=) c.444C= (p.Ile148=) c.678C= (p.Ile226=) | |
| 16 | g.30993220G>T | CA494920865 | STX1B | c.696C>A (p.Ile232=) c.444C>A (p.Ile148=) c.678C>A (p.Ile226=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30993221A>C | CA395646925 | STX1B | c.695T>G (p.Ile232Ser) c.443T>G (p.Ile148Ser) c.677T>G (p.Ile226Ser) | |
| 16 | g.30993221A>G | CA395646926 | STX1B | c.695T>C (p.Ile232Thr) c.443T>C (p.Ile148Thr) c.677T>C (p.Ile226Thr) | |
| 16 | g.30993221A>T | CA395646928 | STX1B | c.695T>A (p.Ile232Asn) c.443T>A (p.Ile148Asn) c.677T>A (p.Ile226Asn) | |
| 16 | g.30993222T>A | CA395646930 | STX1B | c.694A>T (p.Ile232Phe) c.442A>T (p.Ile148Phe) c.676A>T (p.Ile226Phe) | |
| 16 | g.30993222T>C | CA395646931 | STX1B | c.694A>G (p.Ile232Val) c.442A>G (p.Ile148Val) c.676A>G (p.Ile226Val) | gnomAD v4 |
| 16 | g.30993222T>G | CA395646932 | STX1B | c.694A>C (p.Ile232Leu) c.442A>C (p.Ile148Leu) c.676A>C (p.Ile226Leu) | |
| 16 | g.30993223G>A | CA494920866 | STX1B | c.693C>T (p.Arg231=) c.441C>T (p.Arg147=) c.675C>T (p.Arg225=) | COSMIC |
| 16 | g.30993223G>C | CA494920867 | STX1B | c.693C>G (p.Arg231=) c.441C>G (p.Arg147=) c.675C>G (p.Arg225=) | |
| 16 | g.30993223G>T | CA494920869 | STX1B | c.693C>A (p.Arg231=) c.441C>A (p.Arg147=) c.675C>A (p.Arg225=) | |
| 16 | g.30993224C>A | CA395646934 | STX1B | c.692G>T (p.Arg231Leu) c.440G>T (p.Arg147Leu) c.674G>T (p.Arg225Leu) | |
| 16 | g.30993224C= | CA2216836130 | STX1B | c.692G= (p.Arg231=) c.440G= (p.Arg147=) c.674G= (p.Arg225=) | |
| 16 | g.30993224C>G | CA395646936 | STX1B | c.692G>C (p.Arg231Pro) c.440G>C (p.Arg147Pro) c.674G>C (p.Arg225Pro) | |
| 16 | g.30993224C>T | CA395646938 | STX1B | c.692G>A (p.Arg231His) c.440G>A (p.Arg147His) c.674G>A (p.Arg225His) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.30993225G>A | CA8018285 | STX1B | c.691C>T (p.Arg231Cys) c.439C>T (p.Arg147Cys) c.673C>T (p.Arg225Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.30993225G>C | CA395646941 | STX1B | c.691C>G (p.Arg231Gly) c.439C>G (p.Arg147Gly) c.673C>G (p.Arg225Gly) | |
| 16 | g.30993225G= | CA2216836139 | STX1B | c.691C= (p.Arg231=) c.439C= (p.Arg147=) c.673C= (p.Arg225=) | |
| 16 | g.30993225G>T | CA395646939 | STX1B | c.691C>A (p.Arg231Ser) c.439C>A (p.Arg147Ser) c.673C>A (p.Arg225Ser) | |
| 16 | g.30993226G>A | CA494920874 | STX1B | c.690C>T (p.Asp230=) c.438C>T (p.Asp146=) c.672C>T (p.Asp224=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.30993226G>C | CA395646944 | STX1B | c.690C>G (p.Asp230Glu) c.438C>G (p.Asp146Glu) c.672C>G (p.Asp224Glu) | |
| 16 | g.30993226G= | CA2216836147 | STX1B | c.690C= (p.Asp230=) c.438C= (p.Asp146=) c.672C= (p.Asp224=) | |
| 16 | g.30993226G>T | CA395646946 | STX1B | c.690C>A (p.Asp230Glu) c.438C>A (p.Asp146Glu) c.672C>A (p.Asp224Glu) | |
| 16 | g.30993227T>A | CA395646948 | STX1B | c.689A>T (p.Asp230Val) c.437A>T (p.Asp146Val) c.671A>T (p.Asp224Val) | |
| 16 | g.30993227T>C | CA395646949 | STX1B | c.689A>G (p.Asp230Gly) c.437A>G (p.Asp146Gly) c.671A>G (p.Asp224Gly) | |
| 16 | g.30993227T>G | CA395646951 | STX1B | c.689A>C (p.Asp230Ala) c.437A>C (p.Asp146Ala) c.671A>C (p.Asp224Ala) | |
| 16 | g.30993227_30993230delinsTCAA | CA2216836153 | STX1B | c.686_689delinsTTGA (p.Ile229=) c.434_437delinsTTGA (p.Ile145=) c.668_671delinsTTGA (p.Ile223=) | |
| 16 | g.30993228C>A | CA395646953 | STX1B | c.688G>T (p.Asp230Tyr) c.436G>T (p.Asp146Tyr) c.670G>T (p.Asp224Tyr) | |
| 16 | g.30993228C>G | CA395646954 | STX1B | c.688G>C (p.Asp230His) c.436G>C (p.Asp146His) c.670G>C (p.Asp224His) | |
| 16 | g.30993228C>T | CA395646955 | STX1B | c.688G>A (p.Asp230Asn) c.436G>A (p.Asp146Asn) c.670G>A (p.Asp224Asn) | |
| 16 | g.30993228_30993230del | CA915949242 | STX1B | c.686_688del (p.Ile229_Asp230delinsAsn) c.434_436del (p.Ile145_Asp146delinsAsn) c.668_670del (p.Ile223_Asp224delinsAsn) | ClinVar dbSNP |
| 16 | g.30993229A>C | CA395646957 | STX1B | c.687T>G (p.Ile229Met) c.435T>G (p.Ile145Met) c.669T>G (p.Ile223Met) | |
| 16 | g.30993229A>G | CA494920879 | STX1B | c.687T>C (p.Ile229=) c.435T>C (p.Ile145=) c.669T>C (p.Ile223=) | ClinVar gnomAD v4 |
| 16 | g.30993229A>T | CA494920880 | STX1B | c.687T>A (p.Ile229=) c.435T>A (p.Ile145=) c.669T>A (p.Ile223=) | |
| 16 | g.30993230A>C | CA395646959 | STX1B | c.686T>G (p.Ile229Ser) c.434T>G (p.Ile145Ser) c.668T>G (p.Ile223Ser) | |
| 16 | g.30993230A>G | CA395646961 | STX1B | c.686T>C (p.Ile229Thr) c.434T>C (p.Ile145Thr) c.668T>C (p.Ile223Thr) | gnomAD v4 |
| 16 | g.30993230A>T | CA395646962 | STX1B | c.686T>A (p.Ile229Asn) c.434T>A (p.Ile145Asn) c.668T>A (p.Ile223Asn) | |
| 16 | g.30993231T>A | CA395646964 | STX1B | c.685A>T (p.Ile229Phe) c.433A>T (p.Ile145Phe) c.667A>T (p.Ile223Phe) | |
| 16 | g.30993231T>C | CA395646966 | STX1B | c.685A>G (p.Ile229Val) c.433A>G (p.Ile145Val) c.667A>G (p.Ile223Val) | |
| 16 | g.30993231T>G | CA395646967 | STX1B | c.685A>C (p.Ile229Leu) c.433A>C (p.Ile145Leu) c.667A>C (p.Ile223Leu) | |
| 16 | g.30993232C>A | CA395646969 | STX1B | c.684G>T (p.Met228Ile) c.432G>T (p.Met144Ile) c.666G>T (p.Met222Ile) | |
| 16 | g.30993232C>G | CA395646973 | STX1B | c.684G>C (p.Met228Ile) c.432G>C (p.Met144Ile) c.666G>C (p.Met222Ile) | |
| 16 | g.30993232C>T | CA395646971 | STX1B | c.684G>A (p.Met228Ile) c.432G>A (p.Met144Ile) c.666G>A (p.Met222Ile) | COSMIC |
| 16 | g.30993233A>C | CA395646974 | STX1B | c.683T>G (p.Met228Arg) c.431T>G (p.Met144Arg) c.665T>G (p.Met222Arg) | |
| 16 | g.30993233A>G | CA395646975 | STX1B | c.683T>C (p.Met228Thr) c.431T>C (p.Met144Thr) c.665T>C (p.Met222Thr) | ClinVar |
| 16 | g.30993233A>T | CA395646977 | STX1B | c.683T>A (p.Met228Lys) c.431T>A (p.Met144Lys) c.665T>A (p.Met222Lys) | gnomAD v4 |
| 16 | g.30993234T>A | CA395646979 | STX1B | c.682A>T (p.Met228Leu) c.430A>T (p.Met144Leu) c.664A>T (p.Met222Leu) | |
| 16 | g.30993234T>C | CA395646980 | STX1B | c.682A>G (p.Met228Val) c.430A>G (p.Met144Val) c.664A>G (p.Met222Val) | ClinVar |
| 16 | g.30993234T>G | CA8018286 | STX1B | c.682A>C (p.Met228Leu) c.430A>C (p.Met144Leu) c.664A>C (p.Met222Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.30993234T= | CA2216836158 | STX1B | c.682A= (p.Met228=) c.430A= (p.Met144=) c.664A= (p.Met222=) | |
| 16 | g.30993235C>A | CA395646983 | STX1B | c.681G>T (p.Glu227Asp) c.429G>T (p.Glu143Asp) c.663G>T (p.Glu221Asp) | |
| 16 | g.30993235C>G | CA395646984 | STX1B | c.681G>C (p.Glu227Asp) c.429G>C (p.Glu143Asp) c.663G>C (p.Glu221Asp) | |
| 16 | g.30993235C>T | CA494920884 | STX1B | c.681G>A (p.Glu227=) c.429G>A (p.Glu143=) c.663G>A (p.Glu221=) | COSMIC |
| 16 | g.30993236T>A | CA395646986 | STX1B | c.680A>T (p.Glu227Val) c.428A>T (p.Glu143Val) c.662A>T (p.Glu221Val) | |
| 16 | g.30993236T>C | CA395646988 | STX1B | c.680A>G (p.Glu227Gly) c.428A>G (p.Glu143Gly) c.662A>G (p.Glu221Gly) | |
| 16 | g.30993236T>G | CA395646990 | STX1B | c.680A>C (p.Glu227Ala) c.428A>C (p.Glu143Ala) c.662A>C (p.Glu221Ala) | |
| 16 | g.30993237C>A | CA395646992 | STX1B | c.679G>T (p.Glu227Ter) c.427G>T (p.Glu143Ter) c.661G>T (p.Glu221Ter) | |
| 16 | g.30993237C>G | CA395646995 | STX1B | c.679G>C (p.Glu227Gln) c.427G>C (p.Glu143Gln) c.661G>C (p.Glu221Gln) | |
| 16 | g.30993237C>T | CA395646994 | STX1B | c.679G>A (p.Glu227Lys) c.427G>A (p.Glu143Lys) c.661G>A (p.Glu221Lys) | |
| 16 | g.30993238T>A | CA494920889 | STX1B | c.678A>T (p.Gly226=) c.426A>T (p.Gly142=) c.660A>T (p.Gly220=) | |
| 16 | g.30993238T>C | CA494920887 | STX1B | c.678A>G (p.Gly226=) c.426A>G (p.Gly142=) c.660A>G (p.Gly220=) | |
| 16 | g.30993238T>G | CA494920888 | STX1B | c.678A>C (p.Gly226=) c.426A>C (p.Gly142=) c.660A>C (p.Gly220=) | |
| 16 | g.30993239C>A | CA395646997 | STX1B | c.677G>T (p.Gly226Val) c.425G>T (p.Gly142Val) c.659G>T (p.Gly220Val) | |
| 16 | g.30993239C>G | CA395647001 | STX1B | c.677G>C (p.Gly226Ala) c.425G>C (p.Gly142Ala) c.659G>C (p.Gly220Ala) | |
| 16 | g.30993239C>T | CA395646999 | STX1B | c.677G>A (p.Gly226Glu) c.425G>A (p.Gly142Glu) c.659G>A (p.Gly220Glu) | |
| 16 | g.30993240C>A | CA395647002 | STX1B | c.676G>T (p.Gly226Ter) c.424G>T (p.Gly142Ter) c.658G>T (p.Gly220Ter) | |
| 16 | g.30993240C= | CA2216836163 | STX1B | c.676G= (p.Gly226=) c.424G= (p.Gly142=) c.658G= (p.Gly220=) | |
| 16 | g.30993240C>G | CA175022 | STX1B | c.676G>C (p.Gly226Arg) c.424G>C (p.Gly142Arg) c.658G>C (p.Gly220Arg) | ClinVar dbSNP |
| 16 | g.30993240C>T | CA395647003 | STX1B | c.676G>A (p.Gly226Arg) c.424G>A (p.Gly142Arg) c.658G>A (p.Gly220Arg) |