| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.144186837C>A | CA452731029 | STX11 | c.210C>A (p.Ala70=) c.288C>A (p.Ala96=) | |
| 6 | g.144186837C= | CA1669582530 | STX11 | c.210C= (p.Ala70=) c.288C= (p.Ala96=) | |
| 6 | g.144186837C>G | CA452731031 | STX11 | c.210C>G (p.Ala70=) c.288C>G (p.Ala96=) | |
| 6 | g.144186837C>T | CA149823928 | STX11 | c.210C>T (p.Ala70=) c.288C>T (p.Ala96=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186838C>A | CA365948760 | STX11 | c.211C>A (p.Arg71Ser) c.289C>A (p.Arg97Ser) | |
| 6 | g.144186838C= | CA1669582531 | STX11 | c.211C= (p.Arg71=) c.289C= (p.Arg97=) | |
| 6 | g.144186838C>G | CA365948761 | STX11 | c.211C>G (p.Arg71Gly) c.289C>G (p.Arg97Gly) | gnomAD v4 |
| 6 | g.144186838C>T | CA365948762 | STX11 | c.211C>T (p.Arg71Cys) c.289C>T (p.Arg97Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186839G>A | CA149823929 | STX11 | c.212G>A (p.Arg71His) c.290G>A (p.Arg97His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186839G>C | CA365948763 | STX11 | c.212G>C (p.Arg71Pro) c.290G>C (p.Arg97Pro) | |
| 6 | g.144186839G= | CA1669582532 | STX11 | c.212G= (p.Arg71=) c.290G= (p.Arg97=) | |
| 6 | g.144186839G>T | CA365948764 | STX11 | c.212G>T (p.Arg71Leu) c.290G>T (p.Arg97Leu) | |
| 6 | g.144186840C>A | CA452731033 | STX11 | c.213C>A (p.Arg71=) c.291C>A (p.Arg97=) | |
| 6 | g.144186840C= | CA1669582533 | STX11 | c.213C= (p.Arg71=) c.291C= (p.Arg97=) | |
| 6 | g.144186840C>G | CA452731034 | STX11 | c.213C>G (p.Arg71=) c.291C>G (p.Arg97=) | |
| 6 | g.144186840C>T | CA4031653 | STX11 | c.213C>T (p.Arg71=) c.291C>T (p.Arg97=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186841T>A | CA365948765 | STX11 | c.214T>A (p.Phe72Ile) c.292T>A (p.Phe98Ile) | |
| 6 | g.144186841T>C | CA4031654 | STX11 | c.214T>C (p.Phe72Leu) c.292T>C (p.Phe98Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186841T>G | CA365948766 | STX11 | c.214T>G (p.Phe72Val) c.292T>G (p.Phe98Val) | |
| 6 | g.144186841T= | CA1669582534 | STX11 | c.214T= (p.Phe72=) c.292T= (p.Phe98=) | |
| 6 | g.144186842T>A | CA365948767 | STX11 | c.215T>A (p.Phe72Tyr) c.293T>A (p.Phe98Tyr) | |
| 6 | g.144186842T>C | CA365948768 | STX11 | c.215T>C (p.Phe72Ser) c.293T>C (p.Phe98Ser) | |
| 6 | g.144186842T>G | CA365948769 | STX11 | c.215T>G (p.Phe72Cys) c.293T>G (p.Phe98Cys) | |
| 6 | g.144186843C>A | CA365948770 | STX11 | c.216C>A (p.Phe72Leu) c.294C>A (p.Phe98Leu) | |
| 6 | g.144186843C= | CA1669582535 | STX11 | c.216C= (p.Phe72=) c.294C= (p.Phe98=) | |
| 6 | g.144186843C>G | CA365948771 | STX11 | c.216C>G (p.Phe72Leu) c.294C>G (p.Phe98Leu) | |
| 6 | g.144186843C>T | CA452731038 | STX11 | c.216C>T (p.Phe72=) c.294C>T (p.Phe98=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186844C>A | CA365948772 | STX11 | c.217C>A (p.Leu73Ile) c.295C>A (p.Leu99Ile) | |
| 6 | g.144186844C>G | CA365948773 | STX11 | c.217C>G (p.Leu73Val) c.295C>G (p.Leu99Val) | gnomAD v4 |
| 6 | g.144186844C>T | CA365948774 | STX11 | c.217C>T (p.Leu73Phe) c.295C>T (p.Leu99Phe) | |
| 6 | g.144186845T>A | CA365948775 | STX11 | c.218T>A (p.Leu73His) c.296T>A (p.Leu99His) | gnomAD v4 |
| 6 | g.144186845T>C | CA365948776 | STX11 | c.218T>C (p.Leu73Pro) c.296T>C (p.Leu99Pro) | |
| 6 | g.144186845T>G | CA365948777 | STX11 | c.218T>G (p.Leu73Arg) c.296T>G (p.Leu99Arg) | |
| 6 | g.144186846C>A | CA452731043 | STX11 | c.219C>A (p.Leu73=) c.297C>A (p.Leu99=) | |
| 6 | g.144186846C>G | CA452731044 | STX11 | c.219C>G (p.Leu73=) c.297C>G (p.Leu99=) | |
| 6 | g.144186846C>T | CA452731045 | STX11 | c.219C>T (p.Leu73=) c.297C>T (p.Leu99=) | |
| 6 | g.144186847A= | CA1669582536 | STX11 | c.220A= (p.Thr74=) c.298A= (p.Thr100=) | |
| 6 | g.144186847A>C | CA365948780 | STX11 | c.220A>C (p.Thr74Pro) c.298A>C (p.Thr100Pro) | |
| 6 | g.144186847A>G | CA365948779 | STX11 | c.220A>G (p.Thr74Ala) c.298A>G (p.Thr100Ala) | |
| 6 | g.144186847A>T | CA365948778 | STX11 | c.220A>T (p.Thr74Ser) c.298A>T (p.Thr100Ser) | dbSNP |
| 6 | g.144186848C>A | CA365948781 | STX11 | c.221C>A (p.Thr74Lys) c.299C>A (p.Thr100Lys) | |
| 6 | g.144186848C= | CA1669582537 | STX11 | c.221C= (p.Thr74=) c.299C= (p.Thr100=) | |
| 6 | g.144186848C>G | CA365948782 | STX11 | c.221C>G (p.Thr74Arg) c.299C>G (p.Thr100Arg) | dbSNP gnomAD v4 |
| 6 | g.144186848C>T | CA4031655 | STX11 | c.221C>T (p.Thr74Met) c.299C>T (p.Thr100Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186849G>A | CA452731048 | STX11 | c.222G>A (p.Thr74=) c.300G>A (p.Thr100=) | ClinVar dbSNP |
| 6 | g.144186849G>C | CA452731049 | STX11 | c.222G>C (p.Thr74=) c.300G>C (p.Thr100=) | |
| 6 | g.144186849G>T | CA452731050 | STX11 | c.222G>T (p.Thr74=) c.300G>T (p.Thr100=) | |
| 6 | g.144186850T>A | CA365948783 | STX11 | c.223T>A (p.Ser75Thr) c.301T>A (p.Ser101Thr) | |
| 6 | g.144186850T>C | CA365948784 | STX11 | c.223T>C (p.Ser75Pro) c.301T>C (p.Ser101Pro) | |
| 6 | g.144186850T>G | CA365948785 | STX11 | c.223T>G (p.Ser75Ala) c.301T>G (p.Ser101Ala) | |
| 6 | g.144186851C>A | CA365948786 | STX11 | c.224C>A (p.Ser75Tyr) c.302C>A (p.Ser101Tyr) | |
| 6 | g.144186851C= | CA1669582538 | STX11 | c.224C= (p.Ser75=) c.302C= (p.Ser101=) | |
| 6 | g.144186851C>G | CA365948787 | STX11 | c.224C>G (p.Ser75Cys) c.302C>G (p.Ser101Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186851C>T | CA365948788 | STX11 | c.224C>T (p.Ser75Phe) c.302C>T (p.Ser101Phe) | gnomAD v4 |
| 6 | g.144186852C>A | CA452731055 | STX11 | c.225C>A (p.Ser75=) c.303C>A (p.Ser101=) | gnomAD v4 |
| 6 | g.144186852C>G | CA452731056 | STX11 | c.225C>G (p.Ser75=) c.303C>G (p.Ser101=) | |
| 6 | g.144186852C>T | CA452731057 | STX11 | c.225C>T (p.Ser75=) c.303C>T (p.Ser101=) | |
| 6 | g.144186853A>C | CA365948789 | STX11 | c.226A>C (p.Met76Leu) c.304A>C (p.Met102Leu) | |
| 6 | g.144186853A>G | CA365948790 | STX11 | c.226A>G (p.Met76Val) c.304A>G (p.Met102Val) | |
| 6 | g.144186853A>T | CA365948791 | STX11 | c.226A>T (p.Met76Leu) c.304A>T (p.Met102Leu) | |
| 6 | g.144186854T>A | CA365948793 | STX11 | c.227T>A (p.Met76Lys) c.305T>A (p.Met102Lys) | |
| 6 | g.144186854T>C | CA365948794 | STX11 | c.227T>C (p.Met76Thr) c.305T>C (p.Met102Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186854T>G | CA365948792 | STX11 | c.227T>G (p.Met76Arg) c.305T>G (p.Met102Arg) | |
| 6 | g.144186854T= | CA1669582539 | STX11 | c.227T= (p.Met76=) c.305T= (p.Met102=) | |
| 6 | g.144186855G>A | CA365948796 | STX11 | c.228G>A (p.Met76Ile) c.306G>A (p.Met102Ile) | |
| 6 | g.144186855G>C | CA4031656 | STX11 | c.228G>C (p.Met76Ile) c.306G>C (p.Met102Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186855G= | CA1669582540 | STX11 | c.228G= (p.Met76=) c.306G= (p.Met102=) | |
| 6 | g.144186855G>T | CA365948795 | STX11 | c.228G>T (p.Met76Ile) c.306G>T (p.Met102Ile) | |
| 6 | g.144186856C>A | CA452731071 | STX11 | c.229C>A (p.Arg77=) c.307C>A (p.Arg103=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186856C= | CA1669582541 | STX11 | c.229C= (p.Arg77=) c.307C= (p.Arg103=) | |
| 6 | g.144186856C>G | CA365948797 | STX11 | c.229C>G (p.Arg77Gly) c.307C>G (p.Arg103Gly) | |
| 6 | g.144186856C>T | CA4031657 | STX11 | c.229C>T (p.Arg77Trp) c.307C>T (p.Arg103Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186857G>A | CA365948798 | STX11 | c.230G>A (p.Arg77Gln) c.308G>A (p.Arg103Gln) | |
| 6 | g.144186857G>C | CA365948799 | STX11 | c.230G>C (p.Arg77Pro) c.308G>C (p.Arg103Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186857G= | CA1669582542 | STX11 | c.230G= (p.Arg77=) c.308G= (p.Arg103=) | |
| 6 | g.144186857G>T | CA365948800 | STX11 | c.230G>T (p.Arg77Leu) c.308G>T (p.Arg103Leu) | |
| 6 | g.144186858G>A | CA452731078 | STX11 | c.231G>A (p.Arg77=) c.309G>A (p.Arg103=) | |
| 6 | g.144186858G>C | CA452731077 | STX11 | c.231G>C (p.Arg77=) c.309G>C (p.Arg103=) | |
| 6 | g.144186858G>T | CA452731075 | STX11 | c.231G>T (p.Arg77=) c.309G>T (p.Arg103=) | |
| 6 | g.144186859C>A | CA365948801 | STX11 | c.232C>A (p.Arg78Ser) c.310C>A (p.Arg104Ser) | COSMIC |
| 6 | g.144186859C>G | CA365948802 | STX11 | c.232C>G (p.Arg78Gly) c.310C>G (p.Arg104Gly) | |
| 6 | g.144186859C>T | CA365948803 | STX11 | c.232C>T (p.Arg78Cys) c.310C>T (p.Arg104Cys) | gnomAD v4 COSMIC |
| 6 | g.144186860G>A | CA4031658 | STX11 | c.233G>A (p.Arg78His) c.311G>A (p.Arg104His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186860G>C | CA365948804 | STX11 | c.233G>C (p.Arg78Pro) c.311G>C (p.Arg104Pro) | |
| 6 | g.144186860G= | CA1669582543 | STX11 | c.233G= (p.Arg78=) c.311G= (p.Arg104=) | |
| 6 | g.144186860G>T | CA365948805 | STX11 | c.233G>T (p.Arg78Leu) c.311G>T (p.Arg104Leu) | dbSNP gnomAD v2 |
| 6 | g.144186861C>A | CA452731083 | STX11 | c.234C>A (p.Arg78=) c.312C>A (p.Arg104=) | |
| 6 | g.144186861C>G | CA452731085 | STX11 | c.234C>G (p.Arg78=) c.312C>G (p.Arg104=) | |
| 6 | g.144186861C>T | CA452731084 | STX11 | c.234C>T (p.Arg78=) c.312C>T (p.Arg104=) | |
| 6 | g.144186862C>A | CA365948807 | STX11 | c.235C>A (p.Leu79Ile) c.313C>A (p.Leu105Ile) | |
| 6 | g.144186862C= | CA1669582544 | STX11 | c.235C= (p.Leu79=) c.313C= (p.Leu105=) | |
| 6 | g.144186862C>G | CA365948806 | STX11 | c.235C>G (p.Leu79Val) c.313C>G (p.Leu105Val) | |
| 6 | g.144186862C>T | CA4031659 | STX11 | c.235C>T (p.Leu79Phe) c.313C>T (p.Leu105Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.144186863T>A | CA365948808 | STX11 | c.236T>A (p.Leu79His) c.314T>A (p.Leu105His) | |
| 6 | g.144186863T>C | CA365948809 | STX11 | c.236T>C (p.Leu79Pro) c.314T>C (p.Leu105Pro) | |
| 6 | g.144186863T>G | CA365948810 | STX11 | c.236T>G (p.Leu79Arg) c.314T>G (p.Leu105Arg) | |
| 6 | g.144186864C>A | CA452731087 | STX11 | c.237C>A (p.Leu79=) c.315C>A (p.Leu105=) | |
| 6 | g.144186864C= | CA1669582545 | STX11 | c.237C= (p.Leu79=) c.315C= (p.Leu105=) | |
| 6 | g.144186864C>G | CA452731089 | STX11 | c.237C>G (p.Leu79=) c.315C>G (p.Leu105=) | |
| 6 | g.144186864C>T | CA4031660 | STX11 | c.237C>T (p.Leu79=) c.315C>T (p.Leu105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186869_144186871del | CA2680618343 | STX11 | c.242_244del (p.Ser81del) c.320_322del (p.Ser107del) | gnomAD v4 |
| 6 | g.144186865A= | CA1669582546 | STX11 | c.238A= (p.Ser80=) c.316A= (p.Ser106=) | |
| 6 | g.144186865A>C | CA365948811 | STX11 | c.238A>C (p.Ser80Arg) c.316A>C (p.Ser106Arg) | |
| 6 | g.144186865A>G | CA365948812 | STX11 | c.238A>G (p.Ser80Gly) c.316A>G (p.Ser106Gly) | dbSNP gnomAD v4 |
| 6 | g.144186865A>T | CA365948813 | STX11 | c.238A>T (p.Ser80Cys) c.316A>T (p.Ser106Cys) | |
| 6 | g.144186865_144186866insCCCCACCAAACACACCCAAC | CA2773388369 | STX11 | c.238_239insCCCCACCAAACACACCCAAC (p.Ser80ThrfsTer35) c.316_317insCCCCACCAAACACACCCAAC (p.Ser106ThrfsTer35) | |
| 6 | g.144186866G>A | CA4031661 | STX11 | c.239G>A (p.Ser80Asn) c.317G>A (p.Ser106Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186866G>C | CA365948814 | STX11 | c.239G>C (p.Ser80Thr) c.317G>C (p.Ser106Thr) | |
| 6 | g.144186866G= | CA1669582547 | STX11 | c.239G= (p.Ser80=) c.317G= (p.Ser106=) | |
| 6 | g.144186866G>T | CA365948815 | STX11 | c.239G>T (p.Ser80Ile) c.317G>T (p.Ser106Ile) | |
| 6 | g.144186867C>A | CA365948816 | STX11 | c.240C>A (p.Ser80Arg) c.318C>A (p.Ser106Arg) | |
| 6 | g.144186867C>G | CA365948817 | STX11 | c.240C>G (p.Ser80Arg) c.318C>G (p.Ser106Arg) | |
| 6 | g.144186867C>T | CA452731095 | STX11 | c.240C>T (p.Ser80=) c.318C>T (p.Ser106=) | |
| 6 | g.144186868A>C | CA365948820 | STX11 | c.241A>C (p.Ser81Arg) c.319A>C (p.Ser107Arg) | |
| 6 | g.144186868A>G | CA365948819 | STX11 | c.241A>G (p.Ser81Gly) c.319A>G (p.Ser107Gly) | |
| 6 | g.144186868A>T | CA365948818 | STX11 | c.241A>T (p.Ser81Cys) c.319A>T (p.Ser107Cys) | |
| 6 | g.144186869G>A | CA365948821 | STX11 | c.242G>A (p.Ser81Asn) c.320G>A (p.Ser107Asn) | ClinVar |
| 6 | g.144186869G>C | CA365948822 | STX11 | c.242G>C (p.Ser81Thr) c.320G>C (p.Ser107Thr) | |
| 6 | g.144186869G>T | CA365948823 | STX11 | c.242G>T (p.Ser81Ile) c.320G>T (p.Ser107Ile) | |
| 6 | g.144186870C>A | CA365948824 | STX11 | c.243C>A (p.Ser81Arg) c.321C>A (p.Ser107Arg) | |
| 6 | g.144186870C>G | CA365948825 | STX11 | c.243C>G (p.Ser81Arg) c.321C>G (p.Ser107Arg) | |
| 6 | g.144186870C>T | CA452731097 | STX11 | c.243C>T (p.Ser81=) c.321C>T (p.Ser107=) | ClinVar gnomAD v4 |
| 6 | g.144186871A>C | CA365948826 | STX11 | c.244A>C (p.Ile82Leu) c.322A>C (p.Ile108Leu) | |
| 6 | g.144186871A>G | CA365948827 | STX11 | c.244A>G (p.Ile82Val) c.322A>G (p.Ile108Val) | |
| 6 | g.144186871A>T | CA365948828 | STX11 | c.244A>T (p.Ile82Phe) c.322A>T (p.Ile108Phe) | |
| 6 | g.144186872T>A | CA365948829 | STX11 | c.245T>A (p.Ile82Asn) c.323T>A (p.Ile108Asn) | |
| 6 | g.144186872T>C | CA365948830 | STX11 | c.245T>C (p.Ile82Thr) c.323T>C (p.Ile108Thr) | |
| 6 | g.144186872T>G | CA365948831 | STX11 | c.245T>G (p.Ile82Ser) c.323T>G (p.Ile108Ser) | |
| 6 | g.144186873C>A | CA452731100 | STX11 | c.246C>A (p.Ile82=) c.324C>A (p.Ile108=) | |
| 6 | g.144186873C= | CA1669582548 | STX11 | c.246C= (p.Ile82=) c.324C= (p.Ile108=) | |
| 6 | g.144186873C>G | CA365948832 | STX11 | c.246C>G (p.Ile82Met) c.324C>G (p.Ile108Met) | gnomAD v4 |
| 6 | g.144186873C>T | CA4031662 | STX11 | c.246C>T (p.Ile82=) c.324C>T (p.Ile108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186874A= | CA1669582549 | STX11 | c.247A= (p.Lys83=) c.325A= (p.Lys109=) | |
| 6 | g.144186874A>C | CA365948834 | STX11 | c.247A>C (p.Lys83Gln) c.325A>C (p.Lys109Gln) | |
| 6 | g.144186874A>G | CA4031663 | STX11 | c.247A>G (p.Lys83Glu) c.325A>G (p.Lys109Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186874A>T | CA365948833 | STX11 | c.247A>T (p.Lys83Ter) c.325A>T (p.Lys109Ter) | |
| 6 | g.144186875A>C | CA365948835 | STX11 | c.248A>C (p.Lys83Thr) c.326A>C (p.Lys109Thr) | |
| 6 | g.144186875A>G | CA365948836 | STX11 | c.248A>G (p.Lys83Arg) c.326A>G (p.Lys109Arg) | |
| 6 | g.144186875A>T | CA365948837 | STX11 | c.248A>T (p.Lys83Met) c.326A>T (p.Lys109Met) | |
| 6 | g.144186876G>A | CA452731104 | STX11 | c.249G>A (p.Lys83=) c.327G>A (p.Lys109=) | |
| 6 | g.144186876G>C | CA365948838 | STX11 | c.249G>C (p.Lys83Asn) c.327G>C (p.Lys109Asn) | gnomAD v4 |
| 6 | g.144186876G>T | CA365948839 | STX11 | c.249G>T (p.Lys83Asn) c.327G>T (p.Lys109Asn) | |
| 6 | g.144186877C>A | CA365948841 | STX11 | c.250C>A (p.Arg84Ser) c.328C>A (p.Arg110Ser) | |
| 6 | g.144186877C= | CA1669582550 | STX11 | c.250C= (p.Arg84=) c.328C= (p.Arg110=) | |
| 6 | g.144186877C>G | CA4031664 | STX11 | c.250C>G (p.Arg84Gly) c.328C>G (p.Arg110Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186877C>T | CA365948840 | STX11 | c.250C>T (p.Arg84Cys) c.328C>T (p.Arg110Cys) | |
| 6 | g.144186878G>A | CA365948842 | STX11 | c.251G>A (p.Arg84His) c.329G>A (p.Arg110His) | gnomAD v4 |
| 6 | g.144186878G>C | CA365948843 | STX11 | c.251G>C (p.Arg84Pro) c.329G>C (p.Arg110Pro) | |
| 6 | g.144186878G>T | CA365948844 | STX11 | c.251G>T (p.Arg84Leu) c.329G>T (p.Arg110Leu) | gnomAD v4 |
| 6 | g.144186879C>A | CA452731109 | STX11 | c.252C>A (p.Arg84=) c.330C>A (p.Arg110=) | |
| 6 | g.144186879C= | CA1669582551 | STX11 | c.252C= (p.Arg84=) c.330C= (p.Arg110=) | |
| 6 | g.144186879C>G | CA452731110 | STX11 | c.252C>G (p.Arg84=) c.330C>G (p.Arg110=) | dbSNP |
| 6 | g.144186879C>T | CA452731111 | STX11 | c.252C>T (p.Arg84=) c.330C>T (p.Arg110=) | COSMIC |
| 6 | g.144186880G>A | CA365948845 | STX11 | c.253G>A (p.Asp85Asn) c.331G>A (p.Asp111Asn) | COSMIC |
| 6 | g.144186880G>C | CA365948846 | STX11 | c.253G>C (p.Asp85His) c.331G>C (p.Asp111His) | |
| 6 | g.144186880G>T | CA365948847 | STX11 | c.253G>T (p.Asp85Tyr) c.331G>T (p.Asp111Tyr) | gnomAD v4 |
| 6 | g.144186881A= | CA1669582552 | STX11 | c.254A= (p.Asp85=) c.332A= (p.Asp111=) | |
| 6 | g.144186881A>C | CA365948849 | STX11 | c.254A>C (p.Asp85Ala) c.332A>C (p.Asp111Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186881A>G | CA365948850 | STX11 | c.254A>G (p.Asp85Gly) c.332A>G (p.Asp111Gly) | |
| 6 | g.144186881A>T | CA365948848 | STX11 | c.254A>T (p.Asp85Val) c.332A>T (p.Asp111Val) | |
| 6 | g.144186882C>A | CA365948852 | STX11 | c.255C>A (p.Asp85Glu) c.333C>A (p.Asp111Glu) | |
| 6 | g.144186882C>G | CA365948851 | STX11 | c.255C>G (p.Asp85Glu) c.333C>G (p.Asp111Glu) | |
| 6 | g.144186882C>T | CA452731116 | STX11 | c.255C>T (p.Asp85=) c.333C>T (p.Asp111=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186883A= | CA1669582553 | STX11 | c.256A= (p.Thr86=) c.334A= (p.Thr112=) | |
| 6 | g.144186883A>C | CA365948854 | STX11 | c.256A>C (p.Thr86Pro) c.334A>C (p.Thr112Pro) | dbSNP |
| 6 | g.144186883A>G | CA365948853 | STX11 | c.256A>G (p.Thr86Ala) c.334A>G (p.Thr112Ala) | |
| 6 | g.144186883A>T | CA365948855 | STX11 | c.256A>T (p.Thr86Ser) c.334A>T (p.Thr112Ser) | gnomAD v4 |
| 6 | g.144186884C>A | CA365948856 | STX11 | c.257C>A (p.Thr86Asn) c.335C>A (p.Thr112Asn) | |
| 6 | g.144186884C>G | CA365948857 | STX11 | c.257C>G (p.Thr86Ser) c.335C>G (p.Thr112Ser) | |
| 6 | g.144186884C>T | CA365948858 | STX11 | c.257C>T (p.Thr86Ile) c.335C>T (p.Thr112Ile) | |
| 6 | g.144186885C>A | CA452731118 | STX11 | c.258C>A (p.Thr86=) c.336C>A (p.Thr112=) | |
| 6 | g.144186885C>G | CA452731119 | STX11 | c.258C>G (p.Thr86=) c.336C>G (p.Thr112=) | |
| 6 | g.144186885C>T | CA452731120 | STX11 | c.258C>T (p.Thr86=) c.336C>T (p.Thr112=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186886A>C | CA365948859 | STX11 | c.259A>C (p.Asn87His) c.337A>C (p.Asn113His) | |
| 6 | g.144186886A>G | CA365948860 | STX11 | c.259A>G (p.Asn87Asp) c.337A>G (p.Asn113Asp) | gnomAD v4 |
| 6 | g.144186886A>T | CA365948861 | STX11 | c.259A>T (p.Asn87Tyr) c.337A>T (p.Asn113Tyr) | |
| 6 | g.144186887A= | CA1669582554 | STX11 | c.260A= (p.Asn87=) c.338A= (p.Asn113=) | |
| 6 | g.144186887A>C | CA365948862 | STX11 | c.260A>C (p.Asn87Thr) c.338A>C (p.Asn113Thr) | ClinVar dbSNP |
| 6 | g.144186887A>G | CA365948863 | STX11 | c.260A>G (p.Asn87Ser) c.338A>G (p.Asn113Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186887A>T | CA4031665 | STX11 | c.260A>T (p.Asn87Ile) c.338A>T (p.Asn113Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186888C>A | CA365948864 | STX11 | c.261C>A (p.Asn87Lys) c.339C>A (p.Asn113Lys) | |
| 6 | g.144186888C= | CA1669582555 | STX11 | c.261C= (p.Asn87=) c.339C= (p.Asn113=) | |
| 6 | g.144186888C>G | CA365948865 | STX11 | c.261C>G (p.Asn87Lys) c.339C>G (p.Asn113Lys) | |
| 6 | g.144186888C>T | CA452731124 | STX11 | c.261C>T (p.Asn87=) c.339C>T (p.Asn113=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186889T>A | CA365948866 | STX11 | c.262T>A (p.Ser88Thr) c.340T>A (p.Ser114Thr) | |
| 6 | g.144186889T>C | CA365948867 | STX11 | c.262T>C (p.Ser88Pro) c.340T>C (p.Ser114Pro) | gnomAD v4 |
| 6 | g.144186889T>G | CA365948868 | STX11 | c.262T>G (p.Ser88Ala) c.340T>G (p.Ser114Ala) | |
| 6 | g.144186890C>A | CA365948871 | STX11 | c.263C>A (p.Ser88Tyr) c.341C>A (p.Ser114Tyr) | |
| 6 | g.144186890C>G | CA365948870 | STX11 | c.263C>G (p.Ser88Cys) c.341C>G (p.Ser114Cys) | |
| 6 | g.144186890C>T | CA365948869 | STX11 | c.263C>T (p.Ser88Phe) c.341C>T (p.Ser114Phe) | gnomAD v4 |
| 6 | g.144186891C>A | CA452731130 | STX11 | c.264C>A (p.Ser88=) c.342C>A (p.Ser114=) | |
| 6 | g.144186891C= | CA1669582556 | STX11 | c.264C= (p.Ser88=) c.342C= (p.Ser114=) | |
| 6 | g.144186891C>G | CA452731131 | STX11 | c.264C>G (p.Ser88=) c.342C>G (p.Ser114=) | |
| 6 | g.144186891C>T | CA4031666 | STX11 | c.264C>T (p.Ser88=) c.342C>T (p.Ser114=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186892A= | CA1669582557 | STX11 | c.265A= (p.Ile89=) c.343A= (p.Ile115=) | |
| 6 | g.144186892A>C | CA365948872 | STX11 | c.265A>C (p.Ile89Leu) c.343A>C (p.Ile115Leu) | |
| 6 | g.144186892A>G | CA365948873 | STX11 | c.265A>G (p.Ile89Val) c.343A>G (p.Ile115Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186892A>T | CA365948874 | STX11 | c.265A>T (p.Ile89Phe) c.343A>T (p.Ile115Phe) | |
| 6 | g.144186893T>A | CA365948875 | STX11 | c.266T>A (p.Ile89Asn) c.344T>A (p.Ile115Asn) | |
| 6 | g.144186893T>C | CA365948876 | STX11 | c.266T>C (p.Ile89Thr) c.344T>C (p.Ile115Thr) | |
| 6 | g.144186893T>G | CA365948877 | STX11 | c.266T>G (p.Ile89Ser) c.344T>G (p.Ile115Ser) | |
| 6 | g.144186894C>A | CA452731132 | STX11 | c.267C>A (p.Ile89=) c.345C>A (p.Ile115=) | |
| 6 | g.144186894C= | CA1669582558 | STX11 | c.267C= (p.Ile89=) c.345C= (p.Ile115=) | |
| 6 | g.144186894C>G | CA365948878 | STX11 | c.267C>G (p.Ile89Met) c.345C>G (p.Ile115Met) | |
| 6 | g.144186894C>T | CA452731134 | STX11 | c.267C>T (p.Ile89=) c.345C>T (p.Ile115=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186895_144186903dup | CA2680618344 | STX11 | c.268_276dup (p.Ala92_Ile93insAlaLysAla) c.346_354dup (p.Ala118_Ile119insAlaLysAla) | gnomAD v4 |
| 6 | g.144186895_144186903del | CA2573140694 | STX11 | c.268_276del (p.Ala90_Ala92del) c.346_354del (p.Ala116_Ala118del) | ClinVar dbSNP |
| 6 | g.144186895G>A | CA365948879 | STX11 | c.268G>A (p.Ala90Thr) c.346G>A (p.Ala116Thr) | COSMIC |
| 6 | g.144186895G>C | CA365948880 | STX11 | c.268G>C (p.Ala90Pro) c.346G>C (p.Ala116Pro) | |
| 6 | g.144186895G>T | CA365948881 | STX11 | c.268G>T (p.Ala90Ser) c.346G>T (p.Ala116Ser) | gnomAD v4 |
| 6 | g.144186896C>A | CA365948882 | STX11 | c.269C>A (p.Ala90Asp) c.347C>A (p.Ala116Asp) | |
| 6 | g.144186896C>G | CA365948883 | STX11 | c.269C>G (p.Ala90Gly) c.347C>G (p.Ala116Gly) | |
| 6 | g.144186896C>T | CA365948884 | STX11 | c.269C>T (p.Ala90Val) c.347C>T (p.Ala116Val) | |
| 6 | g.144186897C>A | CA452731135 | STX11 | c.270C>A (p.Ala90=) c.348C>A (p.Ala116=) | |
| 6 | g.144186897C>G | CA452731136 | STX11 | c.270C>G (p.Ala90=) c.348C>G (p.Ala116=) | |
| 6 | g.144186897C>T | CA452731137 | STX11 | c.270C>T (p.Ala90=) c.348C>T (p.Ala116=) | |
| 6 | g.144186897_144186904del | CA2773388370 | STX11 | c.270_277del (p.Lys91GlnfsTer22) c.348_355del (p.Lys117GlnfsTer22) | |
| 6 | g.144186898A>C | CA365948886 | STX11 | c.271A>C (p.Lys91Gln) c.349A>C (p.Lys117Gln) | |
| 6 | g.144186898A>G | CA365948887 | STX11 | c.271A>G (p.Lys91Glu) c.349A>G (p.Lys117Glu) | |
| 6 | g.144186898A>T | CA365948885 | STX11 | c.271A>T (p.Lys91Ter) c.349A>T (p.Lys117Ter) | |
| 6 | g.144186899A>C | CA365948888 | STX11 | c.272A>C (p.Lys91Thr) c.350A>C (p.Lys117Thr) | |
| 6 | g.144186899A>G | CA365948889 | STX11 | c.272A>G (p.Lys91Arg) c.350A>G (p.Lys117Arg) | |
| 6 | g.144186899A>T | CA365948890 | STX11 | c.272A>T (p.Lys91Met) c.350A>T (p.Lys117Met) | |
| 6 | g.144186900G>A | CA4031667 | STX11 | c.273G>A (p.Lys91=) c.351G>A (p.Lys117=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.144186900G>C | CA365948891 | STX11 | c.273G>C (p.Lys91Asn) c.351G>C (p.Lys117Asn) | |
| 6 | g.144186900G= | CA1669582559 | STX11 | c.273G= (p.Lys91=) c.351G= (p.Lys117=) | |
| 6 | g.144186900G>T | CA365948892 | STX11 | c.273G>T (p.Lys91Asn) c.351G>T (p.Lys117Asn) | COSMIC |
| 6 | g.144186901G>A | CA365948893 | STX11 | c.274G>A (p.Ala92Thr) c.352G>A (p.Ala118Thr) | dbSNP |
| 6 | g.144186901G>C | CA365948894 | STX11 | c.274G>C (p.Ala92Pro) c.352G>C (p.Ala118Pro) | |
| 6 | g.144186901G= | CA1669582560 | STX11 | c.274G= (p.Ala92=) c.352G= (p.Ala118=) | |
| 6 | g.144186901G>T | CA365948895 | STX11 | c.274G>T (p.Ala92Ser) c.352G>T (p.Ala118Ser) | |
| 6 | g.144186902C>A | CA365948896 | STX11 | c.275C>A (p.Ala92Asp) c.353C>A (p.Ala118Asp) | |
| 6 | g.144186902C>G | CA365948897 | STX11 | c.275C>G (p.Ala92Gly) c.353C>G (p.Ala118Gly) | |
| 6 | g.144186902C>T | CA365948898 | STX11 | c.275C>T (p.Ala92Val) c.353C>T (p.Ala118Val) | gnomAD v4 |
| 6 | g.144186903C>A | CA452731141 | STX11 | c.276C>A (p.Ala92=) c.354C>A (p.Ala118=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186903C= | CA1669582561 | STX11 | c.276C= (p.Ala92=) c.354C= (p.Ala118=) | |
| 6 | g.144186903C>G | CA452731142 | STX11 | c.276C>G (p.Ala92=) c.354C>G (p.Ala118=) | |
| 6 | g.144186903C>T | CA4031668 | STX11 | c.276C>T (p.Ala92=) c.354C>T (p.Ala118=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186904A= | CA1669582562 | STX11 | c.277A= (p.Ile93=) c.355A= (p.Ile119=) | |
| 6 | g.144186904A>C | CA365948900 | STX11 | c.277A>C (p.Ile93Leu) c.355A>C (p.Ile119Leu) | |
| 6 | g.144186904A>G | CA149823930 | STX11 | c.277A>G (p.Ile93Val) c.355A>G (p.Ile119Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186904A>T | CA365948899 | STX11 | c.277A>T (p.Ile93Phe) c.355A>T (p.Ile119Phe) | |
| 6 | g.144186905T>A | CA365948901 | STX11 | c.278T>A (p.Ile93Asn) c.356T>A (p.Ile119Asn) | |
| 6 | g.144186905T>C | CA365948902 | STX11 | c.278T>C (p.Ile93Thr) c.356T>C (p.Ile119Thr) | |
| 6 | g.144186905T>G | CA365948904 | STX11 | c.278T>G (p.Ile93Ser) c.356T>G (p.Ile119Ser) | |
| 6 | g.144186906C>A | CA452731146 | STX11 | c.279C>A (p.Ile93=) c.357C>A (p.Ile119=) | gnomAD v4 |
| 6 | g.144186906C= | CA1669582563 | STX11 | c.279C= (p.Ile93=) c.357C= (p.Ile119=) | |
| 6 | g.144186906C>G | CA149823931 | STX11 | c.279C>G (p.Ile93Met) c.357C>G (p.Ile119Met) | dbSNP gnomAD v4 |
| 6 | g.144186906C>T | CA452731147 | STX11 | c.279C>T (p.Ile93=) c.357C>T (p.Ile119=) | |
| 6 | g.144186907A>C | CA365948905 | STX11 | c.280A>C (p.Lys94Gln) c.358A>C (p.Lys120Gln) | |
| 6 | g.144186907A>G | CA365948906 | STX11 | c.280A>G (p.Lys94Glu) c.358A>G (p.Lys120Glu) | gnomAD v4 |
| 6 | g.144186907A>T | CA365948907 | STX11 | c.280A>T (p.Lys94Ter) c.358A>T (p.Lys120Ter) | |
| 6 | g.144186908A= | CA1669582564 | STX11 | c.281A= (p.Lys94=) c.359A= (p.Lys120=) | |
| 6 | g.144186908A>C | CA365948908 | STX11 | c.281A>C (p.Lys94Thr) c.359A>C (p.Lys120Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186908A>G | CA4031669 | STX11 | c.281A>G (p.Lys94Arg) c.359A>G (p.Lys120Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186908A>T | CA365948909 | STX11 | c.281A>T (p.Lys94Met) c.359A>T (p.Lys120Met) | |
| 6 | g.144186908_144186909del | CA2773388371 | STX11 | c.281_282del (p.Lys94SerfsTer21) c.359_360del (p.Lys120SerfsTer21) | |
| 6 | g.144186909G>A | CA452731148 | STX11 | c.282G>A (p.Lys94=) c.360G>A (p.Lys120=) | |
| 6 | g.144186909G>C | CA365948910 | STX11 | c.282G>C (p.Lys94Asn) c.360G>C (p.Lys120Asn) | |
| 6 | g.144186909G>T | CA365948911 | STX11 | c.282G>T (p.Lys94Asn) c.360G>T (p.Lys120Asn) | |
| 6 | g.144186910G>A | CA365948912 | STX11 | c.283G>A (p.Ala95Thr) c.361G>A (p.Ala121Thr) | gnomAD v4 |
| 6 | g.144186910G>C | CA365948914 | STX11 | c.283G>C (p.Ala95Pro) c.361G>C (p.Ala121Pro) | |
| 6 | g.144186910G>T | CA365948913 | STX11 | c.283G>T (p.Ala95Ser) c.361G>T (p.Ala121Ser) | |
| 6 | g.144186911C>A | CA365948915 | STX11 | c.284C>A (p.Ala95Asp) c.362C>A (p.Ala121Asp) | |
| 6 | g.144186911C= | CA1669582565 | STX11 | c.284C= (p.Ala95=) c.362C= (p.Ala121=) | |
| 6 | g.144186911C>G | CA365948916 | STX11 | c.284C>G (p.Ala95Gly) c.362C>G (p.Ala121Gly) | |
| 6 | g.144186911C>T | CA365948917 | STX11 | c.284C>T (p.Ala95Val) c.362C>T (p.Ala121Val) | dbSNP |
| 6 | g.144186913del | CA2695207126 | STX11 | c.286del (p.Arg96GlyfsTer12) c.364del (p.Arg122GlyfsTer12) | |
| 6 | g.144186912C>A | CA452731149 | STX11 | c.285C>A (p.Ala95=) c.363C>A (p.Ala121=) | |
| 6 | g.144186912C>G | CA452731150 | STX11 | c.285C>G (p.Ala95=) c.363C>G (p.Ala121=) | |
| 6 | g.144186912C>T | CA452731151 | STX11 | c.285C>T (p.Ala95=) c.363C>T (p.Ala121=) | |
| 6 | g.144186912_144186922del | CA2773388372 | STX11 | c.285_295del (p.Arg96HisfsTer16) c.363_373del (p.Arg122HisfsTer16) | |
| 6 | g.144186913C>A | CA452731152 | STX11 | c.286C>A (p.Arg96=) c.364C>A (p.Arg122=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186913C= | CA1669582566 | STX11 | c.286C= (p.Arg96=) c.364C= (p.Arg122=) | |
| 6 | g.144186913C>G | CA365948918 | STX11 | c.286C>G (p.Arg96Gly) c.364C>G (p.Arg122Gly) | gnomAD v4 |
| 6 | g.144186913C>T | CA365948919 | STX11 | c.286C>T (p.Arg96Trp) c.364C>T (p.Arg122Trp) | ClinVar |
| 6 | g.144186914G>A | CA365948922 | STX11 | c.287G>A (p.Arg96Gln) c.365G>A (p.Arg122Gln) | COSMIC |
| 6 | g.144186914G>C | CA365948921 | STX11 | c.287G>C (p.Arg96Pro) c.365G>C (p.Arg122Pro) | |
| 6 | g.144186914G>T | CA365948920 | STX11 | c.287G>T (p.Arg96Leu) c.365G>T (p.Arg122Leu) | |
| 6 | g.144186917del | CA2680618345 | STX11 | c.290del (p.Gly97AlafsTer11) c.368del (p.Gly123AlafsTer11) | gnomAD v4 |
| 6 | g.144186915G>A | CA452731153 | STX11 | c.288G>A (p.Arg96=) c.366G>A (p.Arg122=) | |
| 6 | g.144186915G>C | CA452731154 | STX11 | c.288G>C (p.Arg96=) c.366G>C (p.Arg122=) | |
| 6 | g.144186915G>T | CA452731155 | STX11 | c.288G>T (p.Arg96=) c.366G>T (p.Arg122=) | gnomAD v4 |
| 6 | g.144186916G>A | CA365948923 | STX11 | c.289G>A (p.Gly97Ser) c.367G>A (p.Gly123Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186916G>C | CA365948924 | STX11 | c.289G>C (p.Gly97Arg) c.367G>C (p.Gly123Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186916G= | CA1669582567 | STX11 | c.289G= (p.Gly97=) c.367G= (p.Gly123=) | |
| 6 | g.144186916G>T | CA365948925 | STX11 | c.289G>T (p.Gly97Cys) c.367G>T (p.Gly123Cys) | gnomAD v4 |
| 6 | g.144186917G>A | CA4031670 | STX11 | c.290G>A (p.Gly97Asp) c.368G>A (p.Gly123Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186917G>C | CA365948926 | STX11 | c.290G>C (p.Gly97Ala) c.368G>C (p.Gly123Ala) | |
| 6 | g.144186917G= | CA1669582568 | STX11 | c.290G= (p.Gly97=) c.368G= (p.Gly123=) | |
| 6 | g.144186917G>T | CA365948927 | STX11 | c.290G>T (p.Gly97Val) c.368G>T (p.Gly123Val) | |
| 6 | g.144186918C>A | CA452731156 | STX11 | c.291C>A (p.Gly97=) c.369C>A (p.Gly123=) | gnomAD v4 |
| 6 | g.144186918C>G | CA452731157 | STX11 | c.291C>G (p.Gly97=) c.369C>G (p.Gly123=) | |
| 6 | g.144186918C>T | CA452731158 | STX11 | c.291C>T (p.Gly97=) c.369C>T (p.Gly123=) | ClinVar gnomAD v4 COSMIC |
| 6 | g.144186919G>A | CA365948930 | STX11 | c.292G>A (p.Glu98Lys) c.370G>A (p.Glu124Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.144186919G>C | CA365948928 | STX11 | c.292G>C (p.Glu98Gln) c.370G>C (p.Glu124Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186919G= | CA1669582569 | STX11 | c.292G= (p.Glu98=) c.370G= (p.Glu124=) | |
| 6 | g.144186919G>T | CA365948929 | STX11 | c.292G>T (p.Glu98Ter) c.370G>T (p.Glu124Ter) | gnomAD v4 |
| 6 | g.144186920A>C | CA365948931 | STX11 | c.293A>C (p.Glu98Ala) c.371A>C (p.Glu124Ala) | gnomAD v4 |
| 6 | g.144186920A>G | CA365948932 | STX11 | c.293A>G (p.Glu98Gly) c.371A>G (p.Glu124Gly) | |
| 6 | g.144186920A>T | CA365948933 | STX11 | c.293A>T (p.Glu98Val) c.371A>T (p.Glu124Val) | |
| 6 | g.144186921G>A | CA452731159 | STX11 | c.294G>A (p.Glu98=) c.372G>A (p.Glu124=) | |
| 6 | g.144186921G>C | CA365948934 | STX11 | c.294G>C (p.Glu98Asp) c.372G>C (p.Glu124Asp) | |
| 6 | g.144186921G>T | CA365948935 | STX11 | c.294G>T (p.Glu98Asp) c.372G>T (p.Glu124Asp) | |
| 6 | g.144186922G>A | CA365948936 | STX11 | c.295G>A (p.Val99Ile) c.373G>A (p.Val125Ile) | |
| 6 | g.144186922G>C | CA365948937 | STX11 | c.295G>C (p.Val99Leu) c.373G>C (p.Val125Leu) | |
| 6 | g.144186922G>T | CA365948938 | STX11 | c.295G>T (p.Val99Phe) c.373G>T (p.Val125Phe) | |
| 6 | g.144186923T>A | CA365948939 | STX11 | c.296T>A (p.Val99Asp) c.374T>A (p.Val125Asp) | |
| 6 | g.144186923T>C | CA365948940 | STX11 | c.296T>C (p.Val99Ala) c.374T>C (p.Val125Ala) | |
| 6 | g.144186923T>G | CA365948941 | STX11 | c.296T>G (p.Val99Gly) c.374T>G (p.Val125Gly) | gnomAD v4 |
| 6 | g.144186924C>A | CA4031671 | STX11 | c.297C>A (p.Val99=) c.375C>A (p.Val125=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186924C= | CA1669582570 | STX11 | c.297C= (p.Val99=) c.375C= (p.Val125=) | |
| 6 | g.144186924C>G | CA452731160 | STX11 | c.297C>G (p.Val99=) c.375C>G (p.Val125=) | |
| 6 | g.144186924C>T | CA452731161 | STX11 | c.297C>T (p.Val99=) c.375C>T (p.Val125=) | |
| 6 | g.144186925A= | CA1669582571 | STX11 | c.298A= (p.Ile100=) c.376A= (p.Ile126=) | |
| 6 | g.144186925A>C | CA365948942 | STX11 | c.298A>C (p.Ile100Leu) c.376A>C (p.Ile126Leu) | |
| 6 | g.144186925A>G | CA365948944 | STX11 | c.298A>G (p.Ile100Val) c.376A>G (p.Ile126Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186925A>T | CA365948943 | STX11 | c.298A>T (p.Ile100Phe) c.376A>T (p.Ile126Phe) | |
| 6 | g.144186925_144186929del | CA2773388373 | STX11 | c.298_302del (p.Ile100LeufsTer14) c.376_380del (p.Ile126LeufsTer14) | |
| 6 | g.144186926T>A | CA365948945 | STX11 | c.299T>A (p.Ile100Asn) c.377T>A (p.Ile126Asn) | |
| 6 | g.144186926T>C | CA365948946 | STX11 | c.299T>C (p.Ile100Thr) c.377T>C (p.Ile126Thr) | |
| 6 | g.144186926T>G | CA365948947 | STX11 | c.299T>G (p.Ile100Ser) c.377T>G (p.Ile126Ser) | |
| 6 | g.144186927C>A | CA452731162 | STX11 | c.300C>A (p.Ile100=) c.378C>A (p.Ile126=) | gnomAD v4 |
| 6 | g.144186927C= | CA1669582572 | STX11 | c.300C= (p.Ile100=) c.378C= (p.Ile126=) | |
| 6 | g.144186927C>G | CA365948948 | STX11 | c.300C>G (p.Ile100Met) c.378C>G (p.Ile126Met) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186927C>T | CA452731163 | STX11 | c.300C>T (p.Ile100=) c.378C>T (p.Ile126=) | |
| 6 | g.144186928C>A | CA365948949 | STX11 | c.301C>A (p.His101Asn) c.379C>A (p.His127Asn) | |
| 6 | g.144186928C>G | CA365948950 | STX11 | c.301C>G (p.His101Asp) c.379C>G (p.His127Asp) | |
| 6 | g.144186928C>T | CA365948951 | STX11 | c.301C>T (p.His101Tyr) c.379C>T (p.His127Tyr) | COSMIC |
| 6 | g.144186929A>C | CA365948952 | STX11 | c.302A>C (p.His101Pro) c.380A>C (p.His127Pro) | |
| 6 | g.144186929A>G | CA365948953 | STX11 | c.302A>G (p.His101Arg) c.380A>G (p.His127Arg) | |
| 6 | g.144186929A>T | CA365948954 | STX11 | c.302A>T (p.His101Leu) c.380A>T (p.His127Leu) | |
| 6 | g.144186930C>A | CA365948955 | STX11 | c.303C>A (p.His101Gln) c.381C>A (p.His127Gln) | |
| 6 | g.144186930C= | CA1669582573 | STX11 | c.303C= (p.His101=) c.381C= (p.His127=) | |
| 6 | g.144186930C>G | CA365948956 | STX11 | c.303C>G (p.His101Gln) c.381C>G (p.His127Gln) | gnomAD v4 |
| 6 | g.144186930C>T | CA4031672 | STX11 | c.303C>T (p.His101=) c.381C>T (p.His127=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186931T>A | CA365948957 | STX11 | c.304T>A (p.Cys102Ser) c.382T>A (p.Cys128Ser) | gnomAD v4 |
| 6 | g.144186931T>C | CA365948959 | STX11 | c.304T>C (p.Cys102Arg) c.382T>C (p.Cys128Arg) | gnomAD v4 |
| 6 | g.144186931T>G | CA365948958 | STX11 | c.304T>G (p.Cys102Gly) c.382T>G (p.Cys128Gly) | |
| 6 | g.144186932G>A | CA365948960 | STX11 | c.305G>A (p.Cys102Tyr) c.383G>A (p.Cys128Tyr) | gnomAD v4 |
| 6 | g.144186932G>C | CA365948961 | STX11 | c.305G>C (p.Cys102Ser) c.383G>C (p.Cys128Ser) | |
| 6 | g.144186932G= | CA1669582574 | STX11 | c.305G= (p.Cys102=) c.383G= (p.Cys128=) | |
| 6 | g.144186932G>T | CA365948962 | STX11 | c.305G>T (p.Cys102Phe) c.383G>T (p.Cys128Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.144186933C>A | CA365948963 | STX11 | c.306C>A (p.Cys102Ter) c.384C>A (p.Cys128Ter) | |
| 6 | g.144186933C>G | CA365948964 | STX11 | c.306C>G (p.Cys102Trp) c.384C>G (p.Cys128Trp) | |
| 6 | g.144186933C>T | CA452731164 | STX11 | c.306C>T (p.Cys102=) c.384C>T (p.Cys128=) | |
| 6 | g.144186934A>C | CA365948965 | STX11 | c.307A>C (p.Lys103Gln) c.385A>C (p.Lys129Gln) | gnomAD v4 |
| 6 | g.144186934A>G | CA365948966 | STX11 | c.307A>G (p.Lys103Glu) c.385A>G (p.Lys129Glu) | |
| 6 | g.144186934A>T | CA365948967 | STX11 | c.307A>T (p.Lys103Ter) c.385A>T (p.Lys129Ter) | |
| 6 | g.144186935A>C | CA365948968 | STX11 | c.308A>C (p.Lys103Thr) c.386A>C (p.Lys129Thr) | |
| 6 | g.144186935A>G | CA365948969 | STX11 | c.308A>G (p.Lys103Arg) c.386A>G (p.Lys129Arg) | |
| 6 | g.144186935A>T | CA365948970 | STX11 | c.308A>T (p.Lys103Met) c.386A>T (p.Lys129Met) | |
| 6 | g.144186935_144186997del | CA2773388374 | STX11 | c.308_370del (p.Lys103_Val124delinsMet) c.386_448del (p.Lys129_Val150delinsMet) | |
| 6 | g.144186936G>A | CA452731165 | STX11 | c.309G>A (p.Lys103=) c.387G>A (p.Lys129=) | gnomAD v4 |
| 6 | g.144186936G>C | CA365948971 | STX11 | c.309G>C (p.Lys103Asn) c.387G>C (p.Lys129Asn) | |
| 6 | g.144186936G>T | CA365948972 | STX11 | c.309G>T (p.Lys103Asn) c.387G>T (p.Lys129Asn) | |
| 6 | g.144186937C>A | CA365948973 | STX11 | c.310C>A (p.Leu104Met) c.388C>A (p.Leu130Met) | |
| 6 | g.144186937C>G | CA365948974 | STX11 | c.310C>G (p.Leu104Val) c.388C>G (p.Leu130Val) | |
| 6 | g.144186937C>T | CA452731166 | STX11 | c.310C>T (p.Leu104=) c.388C>T (p.Leu130=) |