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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 |
|---|---|---|---|---|---|
| 3 | g.81670852del | CA2666623581 | GBE1 | c.416del (p.Gly139AspfsTer4) n.132del c.293del (p.Gly98AspfsTer4) | gnomAD v4 |
| 3 | g.81670852C>A | CA353688843 | GBE1 | c.415G>T (p.Gly139Ter) n.131G>T c.292G>T (p.Gly98Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670852C= | CA1378743400 | GBE1 | c.415G= (p.Gly139=) n.131G= c.292G= (p.Gly98=) | |
| 3 | g.81670852C>G | CA353688844 | GBE1 | c.415G>C (p.Gly139Arg) n.131G>C c.292G>C (p.Gly98Arg) | |
| 3 | g.81670852C>T | CA353688845 | GBE1 | c.415G>A (p.Gly139Arg) n.131G>A c.292G>A (p.Gly98Arg) | gnomAD v4 |
| 3 | g.81670853A>C | CA353688847 | GBE1 | c.414T>G (p.His138Gln) n.130T>G c.291T>G (p.His97Gln) | |
| 3 | g.81670853A>G | CA434496912 | GBE1 | c.414T>C (p.His138=) n.130T>C c.291T>C (p.His97=) | gnomAD v4 |
| 3 | g.81670853A>T | CA353688846 | GBE1 | c.414T>A (p.His138Gln) n.130T>A c.291T>A (p.His97Gln) | |
| 3 | g.81670854T>A | CA2499981 | GBE1 | c.413A>T (p.His138Leu) n.129A>T c.290A>T (p.His97Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670854T>C | CA353688848 | GBE1 | c.413A>G (p.His138Arg) n.129A>G c.290A>G (p.His97Arg) | gnomAD v4 |
| 3 | g.81670854T>G | CA353688849 | GBE1 | c.413A>C (p.His138Pro) n.129A>C c.290A>C (p.His97Pro) | |
| 3 | g.81670854T= | CA1378743401 | GBE1 | c.413A= (p.His138=) n.129A= c.290A= (p.His97=) | |
| 3 | g.81670855G>A | CA353688850 | GBE1 | c.412C>T (p.His138Tyr) n.128C>T c.289C>T (p.His97Tyr) | gnomAD v4 |
| 3 | g.81670855G>C | CA353688851 | GBE1 | c.412C>G (p.His138Asp) n.128C>G c.289C>G (p.His97Asp) | ClinVar |
| 3 | g.81670855G>T | CA353688852 | GBE1 | c.412C>A (p.His138Asn) n.128C>A c.289C>A (p.His97Asn) | |
| 3 | g.81670856A>C | CA434496913 | GBE1 | c.411T>G (p.Pro137=) n.127T>G c.288T>G (p.Pro96=) | |
| 3 | g.81670856A>G | CA434496914 | GBE1 | c.411T>C (p.Pro137=) n.127T>C c.288T>C (p.Pro96=) | gnomAD v4 |
| 3 | g.81670856A>T | CA434496915 | GBE1 | c.411T>A (p.Pro137=) n.127T>A c.288T>A (p.Pro96=) | gnomAD v4 |
| 3 | g.81670857G>A | CA353688853 | GBE1 | c.410C>T (p.Pro137Leu) n.126C>T c.287C>T (p.Pro96Leu) | gnomAD v4 |
| 3 | g.81670857G>C | CA353688854 | GBE1 | c.410C>G (p.Pro137Arg) n.126C>G c.287C>G (p.Pro96Arg) | gnomAD v4 |
| 3 | g.81670857G= | CA1378743402 | GBE1 | c.410C= (p.Pro137=) n.126C= c.287C= (p.Pro96=) | |
| 3 | g.81670857G>T | CA353688855 | GBE1 | c.410C>A (p.Pro137His) n.126C>A c.287C>A (p.Pro96His) | dbSNP gnomAD v2 |
| 3 | g.81670858G>A | CA353688856 | GBE1 | c.409C>T (p.Pro137Ser) n.125C>T c.286C>T (p.Pro96Ser) | gnomAD v4 |
| 3 | g.81670858G>C | CA353688857 | GBE1 | c.409C>G (p.Pro137Ala) n.125C>G c.286C>G (p.Pro96Ala) | |
| 3 | g.81670858G>T | CA353688858 | GBE1 | c.409C>A (p.Pro137Thr) n.125C>A c.286C>A (p.Pro96Thr) | gnomAD v4 |
| 3 | g.81670859C>A | CA434496916 | GBE1 | c.408G>T (p.Val136=) n.124G>T c.285G>T (p.Val95=) | gnomAD v4 |
| 3 | g.81670859C>G | CA434496917 | GBE1 | c.408G>C (p.Val136=) n.124G>C c.285G>C (p.Val95=) | gnomAD v4 |
| 3 | g.81670859C>T | CA434496918 | GBE1 | c.408G>A (p.Val136=) n.124G>A c.285G>A (p.Val95=) | gnomAD v4 |
| 3 | g.81670860A>C | CA353688861 | GBE1 | c.407T>G (p.Val136Gly) n.123T>G c.284T>G (p.Val95Gly) | |
| 3 | g.81670860A>G | CA353688860 | GBE1 | c.407T>C (p.Val136Ala) n.123T>C c.284T>C (p.Val95Ala) | |
| 3 | g.81670860A>T | CA353688859 | GBE1 | c.407T>A (p.Val136Glu) n.123T>A c.284T>A (p.Val95Glu) | |
| 3 | g.81670861C>A | CA353688862 | GBE1 | c.406G>T (p.Val136Leu) n.122G>T c.283G>T (p.Val95Leu) | dbSNP |
| 3 | g.81670861C= | CA1378743403 | GBE1 | c.406G= (p.Val136=) n.122G= c.283G= (p.Val95=) | |
| 3 | g.81670861C>G | CA353688863 | GBE1 | c.406G>C (p.Val136Leu) n.122G>C c.283G>C (p.Val95Leu) | |
| 3 | g.81670861C>T | CA2499982 | GBE1 | c.406G>A (p.Val136Met) n.122G>A c.283G>A (p.Val95Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670862G>A | CA2499983 | GBE1 | c.405C>T (p.Leu135=) n.121C>T c.282C>T (p.Leu94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670862G>C | CA434496919 | GBE1 | c.405C>G (p.Leu135=) n.121C>G c.282C>G (p.Leu94=) | COSMIC COSMIC |
| 3 | g.81670862G= | CA1378743404 | GBE1 | c.405C= (p.Leu135=) n.121C= c.282C= (p.Leu94=) | |
| 3 | g.81670862G>T | CA434496920 | GBE1 | c.405C>A (p.Leu135=) n.121C>A c.282C>A (p.Leu94=) | gnomAD v4 |
| 3 | g.81670863A>C | CA353688864 | GBE1 | c.404T>G (p.Leu135Arg) n.120T>G c.281T>G (p.Leu94Arg) | ClinVar |
| 3 | g.81670863A>G | CA353688865 | GBE1 | c.404T>C (p.Leu135Pro) n.120T>C c.281T>C (p.Leu94Pro) | gnomAD v4 |
| 3 | g.81670863A>T | CA353688866 | GBE1 | c.404T>A (p.Leu135His) n.120T>A c.281T>A (p.Leu94His) | gnomAD v4 |
| 3 | g.81670864G>A | CA353688867 | GBE1 | c.403C>T (p.Leu135Phe) n.119C>T c.280C>T (p.Leu94Phe) | gnomAD v4 |
| 3 | g.81670864G>C | CA353688868 | GBE1 | c.403C>G (p.Leu135Val) n.119C>G c.280C>G (p.Leu94Val) | |
| 3 | g.81670864G>T | CA353688869 | GBE1 | c.403C>A (p.Leu135Ile) n.119C>A c.280C>A (p.Leu94Ile) | gnomAD v4 |
| 3 | g.81670865T>A | CA434496921 | GBE1 | c.402A>T (p.Val134=) n.118A>T c.279A>T (p.Val93=) | |
| 3 | g.81670865T>C | CA434496923 | GBE1 | c.402A>G (p.Val134=) n.118A>G c.279A>G (p.Val93=) | dbSNP gnomAD v4 |
| 3 | g.81670865T>G | CA434496922 | GBE1 | c.402A>C (p.Val134=) n.118A>C c.279A>C (p.Val93=) | |
| 3 | g.81670865T= | CA1378743405 | GBE1 | c.402A= (p.Val134=) n.118A= c.279A= (p.Val93=) | |
| 3 | g.81670866A>C | CA353688870 | GBE1 | c.401T>G (p.Val134Gly) n.117T>G c.278T>G (p.Val93Gly) | |
| 3 | g.81670866A>G | CA353688871 | GBE1 | c.401T>C (p.Val134Ala) n.117T>C c.278T>C (p.Val93Ala) | |
| 3 | g.81670866A>T | CA353688872 | GBE1 | c.401T>A (p.Val134Glu) n.117T>A c.278T>A (p.Val93Glu) | |
| 3 | g.81670867_81670868del | CA2756993162 | GBE1 | c.400_401del (p.Val134ThrfsTer14) n.116_117del c.277_278del (p.Val93ThrfsTer14) | |
| 3 | g.81670867C>A | CA353688874 | GBE1 | c.400G>T (p.Val134Leu) n.116G>T c.277G>T (p.Val93Leu) | gnomAD v4 |
| 3 | g.81670867C>G | CA353688875 | GBE1 | c.400G>C (p.Val134Leu) n.116G>C c.277G>C (p.Val93Leu) | |
| 3 | g.81670867C>T | CA353688873 | GBE1 | c.400G>A (p.Val134Ile) n.116G>A c.277G>A (p.Val93Ile) | gnomAD v4 |
| 3 | g.81670868A>C | CA434496924 | GBE1 | c.399T>G (p.Ser133=) n.115T>G c.276T>G (p.Ser92=) | |
| 3 | g.81670868A>G | CA434496925 | GBE1 | c.399T>C (p.Ser133=) n.115T>C c.276T>C (p.Ser92=) | |
| 3 | g.81670868A>T | CA434496926 | GBE1 | c.399T>A (p.Ser133=) n.115T>A c.276T>A (p.Ser92=) | |
| 3 | g.81670869G>A | CA353688876 | GBE1 | c.398C>T (p.Ser133Phe) n.114C>T c.275C>T (p.Ser92Phe) | COSMIC COSMIC |
| 3 | g.81670869G>C | CA353688877 | GBE1 | c.398C>G (p.Ser133Cys) n.114C>G c.275C>G (p.Ser92Cys) | |
| 3 | g.81670869G= | CA1378743406 | GBE1 | c.398C= (p.Ser133=) n.114C= c.275C= (p.Ser92=) | |
| 3 | g.81670869G>T | CA2499984 | GBE1 | c.398C>A (p.Ser133Tyr) n.114C>A c.275C>A (p.Ser92Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670870A>C | CA353688878 | GBE1 | c.397T>G (p.Ser133Ala) n.113T>G c.274T>G (p.Ser92Ala) | |
| 3 | g.81670870A>G | CA353688879 | GBE1 | c.397T>C (p.Ser133Pro) n.113T>C c.274T>C (p.Ser92Pro) | |
| 3 | g.81670870A>T | CA353688880 | GBE1 | c.397T>A (p.Ser133Thr) n.113T>A c.274T>A (p.Ser92Thr) | |
| 3 | g.81670871T>A | CA353688881 | GBE1 | c.396A>T (p.Lys132Asn) n.112A>T c.273A>T (p.Lys91Asn) | |
| 3 | g.81670871T>C | CA434496927 | GBE1 | c.396A>G (p.Lys132=) n.112A>G c.273A>G (p.Lys91=) | |
| 3 | g.81670871T>G | CA353688882 | GBE1 | c.396A>C (p.Lys132Asn) n.112A>C c.273A>C (p.Lys91Asn) | |
| 3 | g.81670872T>A | CA353688883 | GBE1 | c.395A>T (p.Lys132Ile) n.111A>T c.272A>T (p.Lys91Ile) | |
| 3 | g.81670872T>C | CA353688884 | GBE1 | c.395A>G (p.Lys132Arg) n.111A>G c.272A>G (p.Lys91Arg) | |
| 3 | g.81670872T>G | CA353688885 | GBE1 | c.395A>C (p.Lys132Thr) n.111A>C c.272A>C (p.Lys91Thr) | COSMIC COSMIC |
| 3 | g.81670873T>A | CA353688886 | GBE1 | c.394A>T (p.Lys132Ter) n.110A>T c.271A>T (p.Lys91Ter) | |
| 3 | g.81670873T>C | CA353688887 | GBE1 | c.394A>G (p.Lys132Glu) n.110A>G c.271A>G (p.Lys91Glu) | |
| 3 | g.81670873T>G | CA2499985 | GBE1 | c.394A>C (p.Lys132Gln) n.110A>C c.271A>C (p.Lys91Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670873T= | CA1378743407 | GBE1 | c.394A= (p.Lys132=) n.110A= c.271A= (p.Lys91=) | |
| 3 | g.81670874A>C | CA353688889 | GBE1 | c.393T>G (p.Asn131Lys) n.109T>G c.270T>G (p.Asn90Lys) | |
| 3 | g.81670874A>G | CA434496928 | GBE1 | c.393T>C (p.Asn131=) n.109T>C c.270T>C (p.Asn90=) | gnomAD v4 |
| 3 | g.81670874A>T | CA353688888 | GBE1 | c.393T>A (p.Asn131Lys) n.109T>A c.270T>A (p.Asn90Lys) | |
| 3 | g.81670875T>A | CA353688890 | GBE1 | c.392A>T (p.Asn131Ile) n.108A>T c.269A>T (p.Asn90Ile) | |
| 3 | g.81670875T>C | CA353688891 | GBE1 | c.392A>G (p.Asn131Ser) n.108A>G c.269A>G (p.Asn90Ser) | gnomAD v4 |
| 3 | g.81670875T>G | CA353688892 | GBE1 | c.392A>C (p.Asn131Thr) n.108A>C c.269A>C (p.Asn90Thr) | |
| 3 | g.81670876T>A | CA353688893 | GBE1 | c.391A>T (p.Asn131Tyr) n.107A>T c.268A>T (p.Asn90Tyr) | |
| 3 | g.81670876T>C | CA353688894 | GBE1 | c.391A>G (p.Asn131Asp) n.107A>G c.268A>G (p.Asn90Asp) | |
| 3 | g.81670876T>G | CA353688895 | GBE1 | c.391A>C (p.Asn131His) n.107A>C c.268A>C (p.Asn90His) | |
| 3 | g.81670877C>A | CA353688897 | GBE1 | c.390G>T (p.Gln130His) n.106G>T c.267G>T (p.Gln89His) | gnomAD v4 |
| 3 | g.81670877C>G | CA353688896 | GBE1 | c.390G>C (p.Gln130His) n.106G>C c.267G>C (p.Gln89His) | |
| 3 | g.81670877C>T | CA434496929 | GBE1 | c.390G>A (p.Gln130=) n.106G>A c.267G>A (p.Gln89=) | |
| 3 | g.81670878T>A | CA78294821 | GBE1 | c.389A>T (p.Gln130Leu) n.105A>T c.266A>T (p.Gln89Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670878T>C | CA353688898 | GBE1 | c.389A>G (p.Gln130Arg) n.105A>G c.266A>G (p.Gln89Arg) | COSMIC COSMIC |
| 3 | g.81670878T>G | CA353688899 | GBE1 | c.389A>C (p.Gln130Pro) n.105A>C c.266A>C (p.Gln89Pro) | |
| 3 | g.81670878T= | CA1378743408 | GBE1 | c.389A= (p.Gln130=) n.105A= c.266A= (p.Gln89=) | |
| 3 | g.81670879G>A | CA353688900 | GBE1 | c.388C>T (p.Gln130Ter) n.104C>T c.265C>T (p.Gln89Ter) | gnomAD v4 |
| 3 | g.81670879G>C | CA353688901 | GBE1 | c.388C>G (p.Gln130Glu) n.104C>G c.265C>G (p.Gln89Glu) | |
| 3 | g.81670879G>T | CA353688902 | GBE1 | c.388C>A (p.Gln130Lys) n.104C>A c.265C>A (p.Gln89Lys) | gnomAD v4 |
| 3 | g.81670880C>A | CA78294822 | GBE1 | c.387G>T (p.Lys129Asn) n.103G>T c.264G>T (p.Lys88Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670880C= | CA1378743409 | GBE1 | c.387G= (p.Lys129=) n.103G= c.264G= (p.Lys88=) | |
| 3 | g.81670880C>G | CA353688903 | GBE1 | c.387G>C (p.Lys129Asn) n.103G>C c.264G>C (p.Lys88Asn) | |
| 3 | g.81670880C>T | CA2499986 | GBE1 | c.387G>A (p.Lys129=) n.103G>A c.264G>A (p.Lys88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670881T>A | CA353688904 | GBE1 | c.386A>T (p.Lys129Met) n.102A>T c.263A>T (p.Lys88Met) | |
| 3 | g.81670881T>C | CA353688905 | GBE1 | c.386A>G (p.Lys129Arg) n.102A>G c.263A>G (p.Lys88Arg) | |
| 3 | g.81670881T>G | CA353688906 | GBE1 | c.386A>C (p.Lys129Thr) n.102A>C c.263A>C (p.Lys88Thr) | |
| 3 | g.81670882T>A | CA353688907 | GBE1 | c.385A>T (p.Lys129Ter) n.101A>T c.262A>T (p.Lys88Ter) | |
| 3 | g.81670882T>C | CA353688908 | GBE1 | c.385A>G (p.Lys129Glu) n.101A>G c.262A>G (p.Lys88Glu) | gnomAD v4 |
| 3 | g.81670882T>G | CA353688909 | GBE1 | c.385A>C (p.Lys129Gln) n.101A>C c.262A>C (p.Lys88Gln) | |
| 3 | g.81670883T>A | CA434496930 | GBE1 | c.384A>T (p.Pro128=) n.100A>T c.261A>T (p.Pro87=) | |
| 3 | g.81670883T>C | CA434496931 | GBE1 | c.384A>G (p.Pro128=) n.100A>G c.261A>G (p.Pro87=) | |
| 3 | g.81670883T>G | CA434496932 | GBE1 | c.384A>C (p.Pro128=) n.100A>C c.261A>C (p.Pro87=) | |
| 3 | g.81670884G>A | CA353688910 | GBE1 | c.383C>T (p.Pro128Leu) n.99C>T c.260C>T (p.Pro87Leu) | |
| 3 | g.81670884G>C | CA353688911 | GBE1 | c.383C>G (p.Pro128Arg) n.99C>G c.260C>G (p.Pro87Arg) | |
| 3 | g.81670884G>T | CA353688912 | GBE1 | c.383C>A (p.Pro128Gln) n.99C>A c.260C>A (p.Pro87Gln) | gnomAD v4 |
| 3 | g.81670885G>A | CA353688913 | GBE1 | c.382C>T (p.Pro128Ser) n.98C>T c.259C>T (p.Pro87Ser) | gnomAD v4 |
| 3 | g.81670885G>C | CA353688914 | GBE1 | c.382C>G (p.Pro128Ala) n.98C>G c.259C>G (p.Pro87Ala) | |
| 3 | g.81670885G>T | CA353688915 | GBE1 | c.382C>A (p.Pro128Thr) n.98C>A c.259C>A (p.Pro87Thr) | |
| 3 | g.81670886T>A | CA434496935 | GBE1 | c.381A>T (p.Pro127=) n.97A>T c.258A>T (p.Pro86=) | |
| 3 | g.81670886T>C | CA434496934 | GBE1 | c.381A>G (p.Pro127=) n.97A>G c.258A>G (p.Pro86=) | |
| 3 | g.81670886T>G | CA434496933 | GBE1 | c.381A>C (p.Pro127=) n.97A>C c.258A>C (p.Pro86=) | |
| 3 | g.81670887G>A | CA2499987 | GBE1 | c.380C>T (p.Pro127Leu) n.96C>T c.257C>T (p.Pro86Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670887G>C | CA353688917 | GBE1 | c.380C>G (p.Pro127Arg) n.96C>G c.257C>G (p.Pro86Arg) | |
| 3 | g.81670887G= | CA1378743410 | GBE1 | c.380C= (p.Pro127=) n.96C= c.257C= (p.Pro86=) | |
| 3 | g.81670887G>T | CA353688916 | GBE1 | c.380C>A (p.Pro127Gln) n.96C>A c.257C>A (p.Pro86Gln) | |
| 3 | g.81670889del | CA2666623582 | GBE1 | c.380del (p.Pro127HisfsTer16) n.96del c.257del (p.Pro86HisfsTer16) | gnomAD v4 |
| 3 | g.81670888G>A | CA78294823 | GBE1 | c.379C>T (p.Pro127Ser) n.95C>T c.256C>T (p.Pro86Ser) | dbSNP |
| 3 | g.81670888G>C | CA353688918 | GBE1 | c.379C>G (p.Pro127Ala) n.95C>G c.256C>G (p.Pro86Ala) | |
| 3 | g.81670888G= | CA1378743411 | GBE1 | c.379C= (p.Pro127=) n.95C= c.256C= (p.Pro86=) | |
| 3 | g.81670888G>T | CA353688919 | GBE1 | c.379C>A (p.Pro127Thr) n.95C>A c.256C>A (p.Pro86Thr) | gnomAD v4 |
| 3 | g.81670889G>A | CA434496936 | GBE1 | c.378C>T (p.Ile126=) n.94C>T c.255C>T (p.Ile85=) | ClinVar gnomAD v4 |
| 3 | g.81670889G>C | CA353688920 | GBE1 | c.378C>G (p.Ile126Met) n.94C>G c.255C>G (p.Ile85Met) | gnomAD v4 |
| 3 | g.81670889G= | CA1378743412 | GBE1 | c.378C= (p.Ile126=) n.94C= c.255C= (p.Ile85=) | |
| 3 | g.81670889G>T | CA2499988 | GBE1 | c.378C>A (p.Ile126=) n.94C>A c.255C>A (p.Ile85=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81670890A>C | CA353688923 | GBE1 | c.377T>G (p.Ile126Ser) n.93T>G c.254T>G (p.Ile85Ser) | |
| 3 | g.81670890A>G | CA353688921 | GBE1 | c.377T>C (p.Ile126Thr) n.93T>C c.254T>C (p.Ile85Thr) | gnomAD v4 |
| 3 | g.81670890A>T | CA353688922 | GBE1 | c.377T>A (p.Ile126Asn) n.93T>A c.254T>A (p.Ile85Asn) | gnomAD v4 |
| 3 | g.81670891T>A | CA353688924 | GBE1 | c.376A>T (p.Ile126Phe) n.92A>T c.253A>T (p.Ile85Phe) | |
| 3 | g.81670891T>C | CA2499989 | GBE1 | c.376A>G (p.Ile126Val) n.92A>G c.253A>G (p.Ile85Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670891T>G | CA353688925 | GBE1 | c.376A>C (p.Ile126Leu) n.92A>C c.253A>C (p.Ile85Leu) | |
| 3 | g.81670891T= | CA1378743413 | GBE1 | c.376A= (p.Ile126=) n.92A= c.253A= (p.Ile85=) | |
| 3 | g.81670892A>C | CA353688926 | GBE1 | c.375T>G (p.Tyr125Ter) n.91T>G c.252T>G (p.Tyr84Ter) | |
| 3 | g.81670892A>G | CA434496937 | GBE1 | c.375T>C (p.Tyr125=) n.91T>C c.252T>C (p.Tyr84=) | gnomAD v4 |
| 3 | g.81670892A>T | CA353688927 | GBE1 | c.375T>A (p.Tyr125Ter) n.91T>A c.252T>A (p.Tyr84Ter) | |
| 3 | g.81670893T>A | CA353688928 | GBE1 | c.374A>T (p.Tyr125Phe) n.90A>T c.251A>T (p.Tyr84Phe) | |
| 3 | g.81670893T>C | CA2499990 | GBE1 | c.374A>G (p.Tyr125Cys) n.90A>G c.251A>G (p.Tyr84Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670893T>G | CA353688929 | GBE1 | c.374A>C (p.Tyr125Ser) n.90A>C c.251A>C (p.Tyr84Ser) | |
| 3 | g.81670893T= | CA1378743414 | GBE1 | c.374A= (p.Tyr125=) n.90A= c.251A= (p.Tyr84=) | |
| 3 | g.81670894A>C | CA353688930 | GBE1 | c.373T>G (p.Tyr125Asp) n.89T>G c.250T>G (p.Tyr84Asp) | |
| 3 | g.81670894A>G | CA353688932 | GBE1 | c.373T>C (p.Tyr125His) n.89T>C c.250T>C (p.Tyr84His) | gnomAD v4 |
| 3 | g.81670894A>T | CA353688931 | GBE1 | c.373T>A (p.Tyr125Asn) n.89T>A c.250T>A (p.Tyr84Asn) | gnomAD v4 |
| 3 | g.81670895C>A | CA78294824 | GBE1 | c.372G>T (p.Leu124=) n.88G>T c.249G>T (p.Leu83=) | dbSNP gnomAD v4 |
| 3 | g.81670895C= | CA1378743415 | GBE1 | c.372G= (p.Leu124=) n.88G= c.249G= (p.Leu83=) | |
| 3 | g.81670895C>G | CA434496938 | GBE1 | c.372G>C (p.Leu124=) n.88G>C c.249G>C (p.Leu83=) | |
| 3 | g.81670895C>T | CA2499991 | GBE1 | c.372G>A (p.Leu124=) n.88G>A c.249G>A (p.Leu83=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670896A>C | CA353688935 | GBE1 | c.371T>G (p.Leu124Arg) n.87T>G c.248T>G (p.Leu83Arg) | |
| 3 | g.81670896A>G | CA353688933 | GBE1 | c.371T>C (p.Leu124Pro) n.87T>C c.248T>C (p.Leu83Pro) | gnomAD v4 |
| 3 | g.81670896A>T | CA353688934 | GBE1 | c.371T>A (p.Leu124Gln) n.87T>A c.248T>A (p.Leu83Gln) | |
| 3 | g.81670897G>A | CA434496939 | GBE1 | c.370C>T (p.Leu124=) n.86C>T c.247C>T (p.Leu83=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81670897G>C | CA353688936 | GBE1 | c.370C>G (p.Leu124Val) n.86C>G c.247C>G (p.Leu83Val) | dbSNP |
| 3 | g.81670897G= | CA1378743416 | GBE1 | c.370C= (p.Leu124=) n.86C= c.247C= (p.Leu83=) | |
| 3 | g.81670897G>T | CA353688937 | GBE1 | c.370C>A (p.Leu124Met) n.86C>A c.247C>A (p.Leu83Met) | gnomAD v4 |
| 3 | g.81670898C>A | CA353688938 | GBE1 | c.369G>T (p.Glu123Asp) n.85G>T c.246G>T (p.Glu82Asp) | gnomAD v4 |
| 3 | g.81670898C>G | CA353688939 | GBE1 | c.369G>C (p.Glu123Asp) n.85G>C c.246G>C (p.Glu82Asp) | |
| 3 | g.81670898C>T | CA434496940 | GBE1 | c.369G>A (p.Glu123=) n.85G>A c.246G>A (p.Glu82=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670899T>A | CA353688942 | GBE1 | c.368A>T (p.Glu123Val) n.84A>T c.245A>T (p.Glu82Val) | |
| 3 | g.81670899T>C | CA353688941 | GBE1 | c.368A>G (p.Glu123Gly) n.84A>G c.245A>G (p.Glu82Gly) | gnomAD v4 |
| 3 | g.81670899T>G | CA353688940 | GBE1 | c.368A>C (p.Glu123Ala) n.84A>C c.245A>C (p.Glu82Ala) | |
| 3 | g.81670900C>A | CA353688943 | GBE1 | c.367G>T (p.Glu123Ter) n.83G>T c.244G>T (p.Glu82Ter) | ClinVar gnomAD v4 |
| 3 | g.81670900C>G | CA353688944 | GBE1 | c.367G>C (p.Glu123Gln) n.83G>C c.244G>C (p.Glu82Gln) | |
| 3 | g.81670900C>T | CA353688945 | GBE1 | c.367G>A (p.Glu123Lys) n.83G>A c.244G>A (p.Glu82Lys) | gnomAD v4 |
| 3 | g.81670900_81670907delinsCCCATTTT | CA1378743417 | GBE1 | c.360_367delinsAAAATGGG (p.Gly120=) n.76_83delinsAAAATGGG c.237_244delinsAAAATGGG (p.Gly79=) | |
| 3 | g.81670901C>A | CA353688946 | GBE1 | c.366G>T (p.Trp122Cys) n.82G>T c.243G>T (p.Trp81Cys) | |
| 3 | g.81670901C>G | CA353688947 | GBE1 | c.366G>C (p.Trp122Cys) n.82G>C c.243G>C (p.Trp81Cys) | |
| 3 | g.81670901C>T | CA353688948 | GBE1 | c.366G>A (p.Trp122Ter) n.82G>A c.243G>A (p.Trp81Ter) | |
| 3 | g.81670905_81670911del | CA911036479 | GBE1 | c.360_366del (p.Lys121SerfsTer20) n.76_82del c.237_243del (p.Lys80SerfsTer20) | dbSNP gnomAD v4 |
| 3 | g.81670902C>A | CA353688949 | GBE1 | c.365G>T (p.Trp122Leu) n.81G>T c.242G>T (p.Trp81Leu) | dbSNP gnomAD v4 |
| 3 | g.81670902C= | CA1378743418 | GBE1 | c.365G= (p.Trp122=) n.81G= c.242G= (p.Trp81=) | |
| 3 | g.81670902C>G | CA353688951 | GBE1 | c.365G>C (p.Trp122Ser) n.81G>C c.242G>C (p.Trp81Ser) | |
| 3 | g.81670902C>T | CA353688950 | GBE1 | c.365G>A (p.Trp122Ter) n.81G>A c.242G>A (p.Trp81Ter) | dbSNP gnomAD v4 |
| 3 | g.81670903A= | CA1378743419 | GBE1 | c.364T= (p.Trp122=) n.80T= c.241T= (p.Trp81=) | |
| 3 | g.81670903A>C | CA353688952 | GBE1 | c.364T>G (p.Trp122Gly) n.80T>G c.241T>G (p.Trp81Gly) | |
| 3 | g.81670903A>G | CA353688953 | GBE1 | c.364T>C (p.Trp122Arg) n.80T>C c.241T>C (p.Trp81Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81670903A>T | CA353688954 | GBE1 | c.364T>A (p.Trp122Arg) n.80T>A c.241T>A (p.Trp81Arg) | |
| 3 | g.81670904T>A | CA353688955 | GBE1 | c.363A>T (p.Lys121Asn) n.79A>T c.240A>T (p.Lys80Asn) | |
| 3 | g.81670904T>C | CA434496941 | GBE1 | c.363A>G (p.Lys121=) n.79A>G c.240A>G (p.Lys80=) | |
| 3 | g.81670904T>G | CA353688956 | GBE1 | c.363A>C (p.Lys121Asn) n.79A>C c.240A>C (p.Lys80Asn) | |
| 3 | g.81670907del | CA2666623583 | GBE1 | c.363del (p.Lys121AsnfsTer22) n.79del c.240del (p.Lys80AsnfsTer22) | gnomAD v4 |
| 3 | g.81670905T>A | CA353688957 | GBE1 | c.362A>T (p.Lys121Ile) n.78A>T c.239A>T (p.Lys80Ile) | |
| 3 | g.81670905T>C | CA353688958 | GBE1 | c.362A>G (p.Lys121Arg) n.78A>G c.239A>G (p.Lys80Arg) | gnomAD v4 |
| 3 | g.81670905T>G | CA353688959 | GBE1 | c.362A>C (p.Lys121Thr) n.78A>C c.239A>C (p.Lys80Thr) | |
| 3 | g.81670906T>A | CA353688960 | GBE1 | c.361A>T (p.Lys121Ter) n.77A>T c.238A>T (p.Lys80Ter) | |
| 3 | g.81670906T>C | CA2499992 | GBE1 | c.361A>G (p.Lys121Glu) n.77A>G c.238A>G (p.Lys80Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670906T>G | CA353688961 | GBE1 | c.361A>C (p.Lys121Gln) n.77A>C c.238A>C (p.Lys80Gln) | |
| 3 | g.81670906T= | CA1378743420 | GBE1 | c.361A= (p.Lys121=) n.77A= c.238A= (p.Lys80=) | |
| 3 | g.81670907T>A | CA434496943 | GBE1 | c.360A>T (p.Gly120=) n.76A>T c.237A>T (p.Gly79=) | |
| 3 | g.81670907T>C | CA434496944 | GBE1 | c.360A>G (p.Gly120=) n.76A>G c.237A>G (p.Gly79=) | gnomAD v4 |
| 3 | g.81670907T>G | CA434496942 | GBE1 | c.360A>C (p.Gly120=) n.76A>C c.237A>C (p.Gly79=) | |
| 3 | g.81670908C>A | CA353688962 | GBE1 | c.359G>T (p.Gly120Val) n.75G>T c.236G>T (p.Gly79Val) | gnomAD v4 |
| 3 | g.81670908C= | CA1378743421 | GBE1 | c.359G= (p.Gly120=) n.75G= c.236G= (p.Gly79=) | |
| 3 | g.81670908C>G | CA353688964 | GBE1 | c.359G>C (p.Gly120Ala) n.75G>C c.236G>C (p.Gly79Ala) | dbSNP |
| 3 | g.81670908C>T | CA353688963 | GBE1 | c.359G>A (p.Gly120Glu) n.75G>A c.236G>A (p.Gly79Glu) | gnomAD v4 |
| 3 | g.81670909C>A | CA353688965 | GBE1 | c.358G>T (p.Gly120Ter) n.74G>T c.235G>T (p.Gly79Ter) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81670909C>G | CA353688966 | GBE1 | c.358G>C (p.Gly120Arg) n.74G>C c.235G>C (p.Gly79Arg) | gnomAD v4 |
| 3 | g.81670909C>T | CA353688967 | GBE1 | c.358G>A (p.Gly120Arg) n.74G>A c.235G>A (p.Gly79Arg) | |
| 3 | g.81670910A>C | CA353688968 | GBE1 | c.357T>G (p.Tyr119Ter) n.73T>G c.234T>G (p.Tyr78Ter) | |
| 3 | g.81670910A>G | CA434496945 | GBE1 | c.357T>C (p.Tyr119=) n.73T>C c.234T>C (p.Tyr78=) | |
| 3 | g.81670910A>T | CA353688969 | GBE1 | c.357T>A (p.Tyr119Ter) n.73T>A c.234T>A (p.Tyr78Ter) | gnomAD v4 |
| 3 | g.81670911T>A | CA353688970 | GBE1 | c.356A>T (p.Tyr119Phe) n.72A>T c.233A>T (p.Tyr78Phe) | |
| 3 | g.81670911T>C | CA353688971 | GBE1 | c.356A>G (p.Tyr119Cys) n.72A>G c.233A>G (p.Tyr78Cys) | |
| 3 | g.81670911T>G | CA353688972 | GBE1 | c.356A>C (p.Tyr119Ser) n.72A>C c.233A>C (p.Tyr78Ser) | |
| 3 | g.81670912A>C | CA353688973 | GBE1 | c.355T>G (p.Tyr119Asp) n.71T>G c.232T>G (p.Tyr78Asp) | |
| 3 | g.81670912A>G | CA353688974 | GBE1 | c.355T>C (p.Tyr119His) n.71T>C c.232T>C (p.Tyr78His) | |
| 3 | g.81670912A>T | CA353688975 | GBE1 | c.355T>A (p.Tyr119Asn) n.71T>A c.232T>A (p.Tyr78Asn) | |
| 3 | g.81670913A= | CA1378743422 | GBE1 | c.354T= (p.Asp118=) n.70T= c.231T= (p.Asp77=) | |
| 3 | g.81670913A>C | CA353688977 | GBE1 | c.354T>G (p.Asp118Glu) n.70T>G c.231T>G (p.Asp77Glu) | gnomAD v4 |
| 3 | g.81670913A>G | CA2499993 | GBE1 | c.354T>C (p.Asp118=) n.70T>C c.231T>C (p.Asp77=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670913A>T | CA353688976 | GBE1 | c.354T>A (p.Asp118Glu) n.70T>A c.231T>A (p.Asp77Glu) | gnomAD v4 |
| 3 | g.81670914T>A | CA353688978 | GBE1 | c.353A>T (p.Asp118Val) n.69A>T c.230A>T (p.Asp77Val) | |
| 3 | g.81670914T>C | CA353688979 | GBE1 | c.353A>G (p.Asp118Gly) n.69A>G c.230A>G (p.Asp77Gly) | |
| 3 | g.81670914T>G | CA353688980 | GBE1 | c.353A>C (p.Asp118Ala) n.69A>C c.230A>C (p.Asp77Ala) | |
| 3 | g.81670915C>A | CA353688981 | GBE1 | c.352G>T (p.Asp118Tyr) n.68G>T c.229G>T (p.Asp77Tyr) | gnomAD v4 |
| 3 | g.81670915C>G | CA353688982 | GBE1 | c.352G>C (p.Asp118His) n.68G>C c.229G>C (p.Asp77His) | |
| 3 | g.81670915C>T | CA353688983 | GBE1 | c.352G>A (p.Asp118Asn) n.68G>A c.229G>A (p.Asp77Asn) | gnomAD v4 |
| 3 | g.81670916del | CA2666623584 | GBE1 | c.352del (p.Asp118IlefsTer25) n.68del c.229del (p.Asp77IlefsTer25) | gnomAD v4 |
| 3 | g.81670916C>A | CA2499994 | GBE1 | c.351G>T (p.Leu117=) n.67G>T c.228G>T (p.Leu76=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670916C= | CA1378743423 | GBE1 | c.351G= (p.Leu117=) n.67G= c.228G= (p.Leu76=) | |
| 3 | g.81670916C>G | CA434496946 | GBE1 | c.351G>C (p.Leu117=) n.67G>C c.228G>C (p.Leu76=) | gnomAD v4 |
| 3 | g.81670916C>T | CA434496947 | GBE1 | c.351G>A (p.Leu117=) n.67G>A c.228G>A (p.Leu76=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670917A= | CA1378743424 | GBE1 | c.350T= (p.Leu117=) n.66T= c.227T= (p.Leu76=) | |
| 3 | g.81670917A>C | CA353688984 | GBE1 | c.350T>G (p.Leu117Arg) n.66T>G c.227T>G (p.Leu76Arg) | |
| 3 | g.81670917A>G | CA2499995 | GBE1 | c.350T>C (p.Leu117Pro) n.66T>C c.227T>C (p.Leu76Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670917A>T | CA353688985 | GBE1 | c.350T>A (p.Leu117Gln) n.66T>A c.227T>A (p.Leu76Gln) | |
| 3 | g.81670918G>A | CA434496948 | GBE1 | c.349C>T (p.Leu117=) n.65C>T c.226C>T (p.Leu76=) | |
| 3 | g.81670918G>C | CA353688986 | GBE1 | c.349C>G (p.Leu117Val) n.65C>G c.226C>G (p.Leu76Val) | |
| 3 | g.81670918G>T | CA353688987 | GBE1 | c.349C>A (p.Leu117Met) n.65C>A c.226C>A (p.Leu76Met) | gnomAD v4 |
| 3 | g.81670919T>A | CA353688989 | GBE1 | c.348A>T (p.Lys116Asn) n.64A>T c.225A>T (p.Lys75Asn) | |
| 3 | g.81670919T>C | CA434496949 | GBE1 | c.348A>G (p.Lys116=) n.64A>G c.225A>G (p.Lys75=) | |
| 3 | g.81670919T>G | CA353688988 | GBE1 | c.348A>C (p.Lys116Asn) n.64A>C c.225A>C (p.Lys75Asn) | dbSNP gnomAD v4 |
| 3 | g.81670919T= | CA1378743425 | GBE1 | c.348A= (p.Lys116=) n.64A= c.225A= (p.Lys75=) | |
| 3 | g.81670924dup | CA2666623585 | GBE1 | c.348dup (p.Leu117ThrfsTer16) n.64dup c.225dup (p.Leu76ThrfsTer16) | ClinVar gnomAD v4 |
| 3 | g.81670924del | CA2666623586 | GBE1 | c.348del (p.Lys116AsnfsTer27) n.64del c.225del (p.Lys75AsnfsTer27) | gnomAD v4 |
| 3 | g.81670920T>A | CA353688990 | GBE1 | c.347A>T (p.Lys116Ile) n.63A>T c.224A>T (p.Lys75Ile) | |
| 3 | g.81670920T>C | CA353688992 | GBE1 | c.347A>G (p.Lys116Arg) n.63A>G c.224A>G (p.Lys75Arg) | gnomAD v4 |
| 3 | g.81670920T>G | CA353688991 | GBE1 | c.347A>C (p.Lys116Thr) n.63A>C c.224A>C (p.Lys75Thr) | |
| 3 | g.81670921T>A | CA353688993 | GBE1 | c.346A>T (p.Lys116Ter) n.62A>T c.223A>T (p.Lys75Ter) | |
| 3 | g.81670921T>C | CA2499996 | GBE1 | c.346A>G (p.Lys116Glu) n.62A>G c.223A>G (p.Lys75Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670921T>G | CA353688994 | GBE1 | c.346A>C (p.Lys116Gln) n.62A>C c.223A>C (p.Lys75Gln) | |
| 3 | g.81670921T= | CA1378743426 | GBE1 | c.346A= (p.Lys116=) n.62A= c.223A= (p.Lys75=) | |
| 3 | g.81670922T>A | CA353688995 | GBE1 | c.345A>T (p.Lys115Asn) n.61A>T c.222A>T (p.Lys74Asn) | |
| 3 | g.81670922T>C | CA434496950 | GBE1 | c.345A>G (p.Lys115=) n.61A>G c.222A>G (p.Lys74=) | |
| 3 | g.81670922T>G | CA353688996 | GBE1 | c.345A>C (p.Lys115Asn) n.61A>C c.222A>C (p.Lys74Asn) | COSMIC COSMIC |
| 3 | g.81670923T>A | CA353688997 | GBE1 | c.344A>T (p.Lys115Ile) n.60A>T c.221A>T (p.Lys74Ile) | |
| 3 | g.81670923T>C | CA353688998 | GBE1 | c.344A>G (p.Lys115Arg) n.60A>G c.221A>G (p.Lys74Arg) | gnomAD v4 |
| 3 | g.81670923T>G | CA353688999 | GBE1 | c.344A>C (p.Lys115Thr) n.60A>C c.221A>C (p.Lys74Thr) | |
| 3 | g.81670924T>A | CA353689000 | GBE1 | c.343A>T (p.Lys115Ter) n.59A>T c.220A>T (p.Lys74Ter) | |
| 3 | g.81670924T>C | CA353689001 | GBE1 | c.343A>G (p.Lys115Glu) n.59A>G c.220A>G (p.Lys74Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81670924T>G | CA353689002 | GBE1 | c.343A>C (p.Lys115Gln) n.59A>C c.220A>C (p.Lys74Gln) | |
| 3 | g.81670924T= | CA1378743427 | GBE1 | c.343A= (p.Lys115=) n.59A= c.220A= (p.Lys74=) | |
| 3 | g.81670925G>A | CA2499997 | GBE1 | c.342C>T (p.Tyr114=) n.58C>T c.219C>T (p.Tyr73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670925G>C | CA353689004 | GBE1 | c.342C>G (p.Tyr114Ter) n.58C>G c.219C>G (p.Tyr73Ter) | gnomAD v4 |
| 3 | g.81670925G= | CA1378743428 | GBE1 | c.342C= (p.Tyr114=) n.58C= c.219C= (p.Tyr73=) | |
| 3 | g.81670925G>T | CA353689003 | GBE1 | c.342C>A (p.Tyr114Ter) n.58C>A c.219C>A (p.Tyr73Ter) | gnomAD v4 |
| 3 | g.81670926T>A | CA353689005 | GBE1 | c.341A>T (p.Tyr114Phe) n.57A>T c.218A>T (p.Tyr73Phe) | gnomAD v4 |
| 3 | g.81670926T>C | CA2499998 | GBE1 | c.341A>G (p.Tyr114Cys) n.57A>G c.218A>G (p.Tyr73Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.81670926T>G | CA353689006 | GBE1 | c.341A>C (p.Tyr114Ser) n.57A>C c.218A>C (p.Tyr73Ser) | |
| 3 | g.81670926T= | CA1378743429 | GBE1 | c.341A= (p.Tyr114=) n.57A= c.218A= (p.Tyr73=) | |
| 3 | g.81670927A>C | CA353689007 | GBE1 | c.340T>G (p.Tyr114Asp) n.56T>G c.217T>G (p.Tyr73Asp) | |
| 3 | g.81670927A>G | CA353689008 | GBE1 | c.340T>C (p.Tyr114His) n.56T>C c.217T>C (p.Tyr73His) | gnomAD v4 |
| 3 | g.81670927A>T | CA353689009 | GBE1 | c.340T>A (p.Tyr114Asn) n.56T>A c.217T>A (p.Tyr73Asn) | |
| 3 | g.81670928T>A | CA434496951 | GBE1 | c.339A>T (p.Pro113=) n.55A>T c.216A>T (p.Pro72=) | gnomAD v4 |
| 3 | g.81670928T>C | CA434496952 | GBE1 | c.339A>G (p.Pro113=) n.55A>G c.216A>G (p.Pro72=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670928T>G | CA434496953 | GBE1 | c.339A>C (p.Pro113=) n.55A>C c.216A>C (p.Pro72=) | ClinVar dbSNP |
| 3 | g.81670928T= | CA1378743430 | GBE1 | c.339A= (p.Pro113=) n.55A= c.216A= (p.Pro72=) | |
| 3 | g.81670929G>A | CA353689010 | GBE1 | c.338C>T (p.Pro113Leu) n.54C>T c.215C>T (p.Pro72Leu) | dbSNP gnomAD v4 |
| 3 | g.81670929G>C | CA353689011 | GBE1 | c.338C>G (p.Pro113Arg) n.54C>G c.215C>G (p.Pro72Arg) | gnomAD v4 |
| 3 | g.81670929G= | CA1378743431 | GBE1 | c.338C= (p.Pro113=) n.54C= c.215C= (p.Pro72=) | |
| 3 | g.81670929G>T | CA353689012 | GBE1 | c.338C>A (p.Pro113Gln) n.54C>A c.215C>A (p.Pro72Gln) | gnomAD v4 |
| 3 | g.81670931del | CA2666623587 | GBE1 | c.338del (p.Pro113HisfsTer30) n.54del c.215del (p.Pro72HisfsTer30) | gnomAD v4 |
| 3 | g.81670930G>A | CA353689013 | GBE1 | c.337C>T (p.Pro113Ser) n.53C>T c.214C>T (p.Pro72Ser) | gnomAD v4 |
| 3 | g.81670930G>C | CA353689014 | GBE1 | c.337C>G (p.Pro113Ala) n.53C>G c.214C>G (p.Pro72Ala) | |
| 3 | g.81670930G>T | CA353689015 | GBE1 | c.337C>A (p.Pro113Thr) n.53C>A c.214C>A (p.Pro72Thr) | gnomAD v4 |
| 3 | g.81670931G>A | CA2499999 | GBE1 | c.336C>T (p.Tyr112=) n.52C>T c.213C>T (p.Tyr71=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670931G>C | CA353689017 | GBE1 | c.336C>G (p.Tyr112Ter) n.52C>G c.213C>G (p.Tyr71Ter) | |
| 3 | g.81670931G= | CA1378743432 | GBE1 | c.336C= (p.Tyr112=) n.52C= c.213C= (p.Tyr71=) | |
| 3 | g.81670931G>T | CA353689016 | GBE1 | c.336C>A (p.Tyr112Ter) n.52C>A c.213C>A (p.Tyr71Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670932T>A | CA353689018 | GBE1 | c.335A>T (p.Tyr112Phe) n.51A>T c.212A>T (p.Tyr71Phe) | |
| 3 | g.81670932T>C | CA353689019 | GBE1 | c.335A>G (p.Tyr112Cys) n.51A>G c.212A>G (p.Tyr71Cys) | gnomAD v4 |
| 3 | g.81670932T>G | CA353689020 | GBE1 | c.335A>C (p.Tyr112Ser) n.51A>C c.212A>C (p.Tyr71Ser) | |
| 3 | g.81670933A>C | CA353689021 | GBE1 | c.334T>G (p.Tyr112Asp) n.50T>G c.211T>G (p.Tyr71Asp) | |
| 3 | g.81670933A>G | CA353689022 | GBE1 | c.334T>C (p.Tyr112His) n.50T>C c.211T>C (p.Tyr71His) | |
| 3 | g.81670933A>T | CA353689023 | GBE1 | c.334T>A (p.Tyr112Asn) n.50T>A c.211T>A (p.Tyr71Asn) | |
| 3 | g.81670934C>A | CA434496954 | GBE1 | c.333G>T (p.Ser111=) n.49G>T c.210G>T (p.Ser70=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670934C= | CA1378743433 | GBE1 | c.333G= (p.Ser111=) n.49G= c.210G= (p.Ser70=) | |
| 3 | g.81670934C>G | CA2500000 | GBE1 | c.333G>C (p.Ser111=) n.49G>C c.210G>C (p.Ser70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670934C>T | CA2500001 | GBE1 | c.333G>A (p.Ser111=) n.49G>A c.210G>A (p.Ser70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81670935G>A | CA2500002 | GBE1 | c.332C>T (p.Ser111Leu) n.48C>T c.209C>T (p.Ser70Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81670935G>C | CA353689024 | GBE1 | c.332C>G (p.Ser111Trp) n.48C>G c.209C>G (p.Ser70Trp) | |
| 3 | g.81670935G= | CA1378743434 | GBE1 | c.332C= (p.Ser111=) n.48C= c.209C= (p.Ser70=) | |
| 3 | g.81670935G>T | CA353689025 | GBE1 | c.332C>A (p.Ser111Ter) n.48C>A c.209C>A (p.Ser70Ter) | gnomAD v4 |
| 3 | g.81670936A>C | CA353689026 | GBE1 | c.331T>G (p.Ser111Ala) n.47T>G c.208T>G (p.Ser70Ala) | |
| 3 | g.81670936A>G | CA353689027 | GBE1 | c.331T>C (p.Ser111Pro) n.47T>C c.208T>C (p.Ser70Pro) | gnomAD v4 |
| 3 | g.81670936A>T | CA353689028 | GBE1 | c.331T>A (p.Ser111Thr) n.47T>A c.208T>A (p.Ser70Thr) | |
| 3 | g.81670939del | CA2577825954 | GBE1 | c.331del (p.Ser111ArgfsTer?) n.47del c.208del (p.Ser70ArgfsTer?) | gnomAD v4 |
| 3 | g.81670937A>C | CA353689029 | GBE1 | c.330T>G (p.Phe110Leu) n.46T>G c.207T>G (p.Phe69Leu) | |
| 3 | g.81670937A>G | CA434496955 | GBE1 | c.330T>C (p.Phe110=) n.46T>C c.207T>C (p.Phe69=) | gnomAD v4 |
| 3 | g.81670937A>T | CA353689030 | GBE1 | c.330T>A (p.Phe110Leu) n.46T>A c.207T>A (p.Phe69Leu) | |
| 3 | g.81670938A>C | CA353689031 | GBE1 | c.329T>G (p.Phe110Cys) n.45T>G c.206T>G (p.Phe69Cys) | |
| 3 | g.81670938A>G | CA353689032 | GBE1 | c.329T>C (p.Phe110Ser) n.45T>C c.206T>C (p.Phe69Ser) | |
| 3 | g.81670938A>T | CA353689033 | GBE1 | c.329T>A (p.Phe110Tyr) n.45T>A c.206T>A (p.Phe69Tyr) | |
| 3 | g.81670939A>C | CA353689034 | GBE1 | c.328T>G (p.Phe110Val) n.44T>G c.205T>G (p.Phe69Val) | |
| 3 | g.81670939A>G | CA353689035 | GBE1 | c.328T>C (p.Phe110Leu) n.44T>C c.205T>C (p.Phe69Leu) | gnomAD v4 |
| 3 | g.81670939A>T | CA353689036 | GBE1 | c.328T>A (p.Phe110Ile) n.44T>A c.205T>A (p.Phe69Ile) | |
| 3 | g.81670940T>A | CA434496956 | GBE1 | c.327A>T (p.Pro109=) n.43A>T c.204A>T (p.Pro68=) | |
| 3 | g.81670940T>C | CA434496958 | GBE1 | c.327A>G (p.Pro109=) n.43A>G c.204A>G (p.Pro68=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81670940T>G | CA434496957 | GBE1 | c.327A>C (p.Pro109=) n.43A>C c.204A>C (p.Pro68=) | |
| 3 | g.81670940T= | CA1378743435 | GBE1 | c.327A= (p.Pro109=) n.43A= c.204A= (p.Pro68=) | |
| 3 | g.81670941G>A | CA353689037 | GBE1 | c.326C>T (p.Pro109Leu) n.42C>T c.203C>T (p.Pro68Leu) | gnomAD v4 |
| 3 | g.81670941G>C | CA353689038 | GBE1 | c.326C>G (p.Pro109Arg) n.42C>G c.203C>G (p.Pro68Arg) | |
| 3 | g.81670941G= | CA1378743436 | GBE1 | c.326C= (p.Pro109=) n.42C= c.203C= (p.Pro68=) | |
| 3 | g.81670941G>T | CA353689039 | GBE1 | c.326C>A (p.Pro109Gln) n.42C>A c.203C>A (p.Pro68Gln) | dbSNP gnomAD v4 |
| 3 | g.81670942G>A | CA353689040 | GBE1 | c.325C>T (p.Pro109Ser) n.41C>T c.202C>T (p.Pro68Ser) | gnomAD v4 |
| 3 | g.81670942G>C | CA353689041 | GBE1 | c.325C>G (p.Pro109Ala) n.41C>G c.202C>G (p.Pro68Ala) | |
| 3 | g.81670942G>T | CA353689042 | GBE1 | c.325C>A (p.Pro109Thr) n.41C>A c.202C>A (p.Pro68Thr) | gnomAD v4 |
| 3 | g.81670943A= | CA1378743437 | GBE1 | c.324T= (p.Asn108=) n.40T= c.201T= (p.Asn67=) | |
| 3 | g.81670943A>C | CA353689043 | GBE1 | c.324T>G (p.Asn108Lys) n.40T>G c.201T>G (p.Asn67Lys) | gnomAD v4 |
| 3 | g.81670943A>G | CA434496959 | GBE1 | c.324T>C (p.Asn108=) n.40T>C c.201T>C (p.Asn67=) | gnomAD v4 |
| 3 | g.81670943A>T | CA78294825 | GBE1 | c.324T>A (p.Asn108Lys) n.40T>A c.201T>A (p.Asn67Lys) | dbSNP |
| 3 | g.81670944T>A | CA353689044 | GBE1 | c.323A>T (p.Asn108Ile) n.39A>T c.200A>T (p.Asn67Ile) | |
| 3 | g.81670944T>C | CA2500003 | GBE1 | c.323A>G (p.Asn108Ser) n.39A>G c.200A>G (p.Asn67Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81670944T>G | CA353689045 | GBE1 | c.323A>C (p.Asn108Thr) n.39A>C c.200A>C (p.Asn67Thr) | |
| 3 | g.81670944T= | CA1378743438 | GBE1 | c.323A= (p.Asn108=) n.39A= c.200A= (p.Asn67=) | |
| 3 | g.81670945T>A | CA353689046 | GBE1 | c.322A>T (p.Asn108Tyr) n.38A>T c.199A>T (p.Asn67Tyr) | gnomAD v4 |
| 3 | g.81670945T>C | CA353689048 | GBE1 | c.322A>G (p.Asn108Asp) n.38A>G c.199A>G (p.Asn67Asp) | gnomAD v4 |
| 3 | g.81670945T>G | CA353689047 | GBE1 | c.322A>C (p.Asn108His) n.38A>C c.199A>C (p.Asn67His) | |
| 3 | g.81670946C>A | CA353689049 | GBE1 | c.321G>T (p.Trp107Cys) n.37G>T c.198G>T (p.Trp66Cys) | gnomAD v4 |
| 3 | g.81670946C>G | CA353689050 | GBE1 | c.321G>C (p.Trp107Cys) n.37G>C c.198G>C (p.Trp66Cys) | |
| 3 | g.81670946C>T | CA353689051 | GBE1 | c.321G>A (p.Trp107Ter) n.37G>A c.198G>A (p.Trp66Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670947C>A | CA353689052 | GBE1 | c.320G>T (p.Trp107Leu) n.36G>T c.197G>T (p.Trp66Leu) | gnomAD v4 |
| 3 | g.81670947C>G | CA353689053 | GBE1 | c.320G>C (p.Trp107Ser) n.36G>C c.197G>C (p.Trp66Ser) | |
| 3 | g.81670947C>T | CA353689054 | GBE1 | c.320G>A (p.Trp107Ter) n.36G>A c.197G>A (p.Trp66Ter) | gnomAD v4 |
| 3 | g.81670948A>C | CA353689055 | GBE1 | c.319T>G (p.Trp107Gly) n.35T>G c.196T>G (p.Trp66Gly) | |
| 3 | g.81670948A>G | CA353689056 | GBE1 | c.319T>C (p.Trp107Arg) n.35T>C c.196T>C (p.Trp66Arg) | gnomAD v4 |
| 3 | g.81670948A>T | CA353689057 | GBE1 | c.319T>A (p.Trp107Arg) n.35T>A c.196T>A (p.Trp66Arg) | gnomAD v4 |
| 3 | g.81670949A>C | CA434496960 | GBE1 | c.318T>G (p.Gly106=) n.34T>G c.195T>G (p.Gly65=) | |
| 3 | g.81670949A>G | CA434496961 | GBE1 | c.318T>C (p.Gly106=) n.34T>C c.195T>C (p.Gly65=) | gnomAD v4 |
| 3 | g.81670949A>T | CA434496962 | GBE1 | c.318T>A (p.Gly106=) n.34T>A c.195T>A (p.Gly65=) | |
| 3 | g.81670950C>A | CA353689058 | GBE1 | c.317G>T (p.Gly106Val) n.33G>T c.194G>T (p.Gly65Val) | gnomAD v4 |
| 3 | g.81670950C>G | CA353689059 | GBE1 | c.317G>C (p.Gly106Ala) n.33G>C c.194G>C (p.Gly65Ala) | |
| 3 | g.81670950C>T | CA353689060 | GBE1 | c.317G>A (p.Gly106Asp) n.33G>A c.194G>A (p.Gly65Asp) | gnomAD v4 |
| 3 | g.81670951del | CA2573137466 | GBE1 | c.317del (p.Gly106ValfsTer?) n.33del c.194del (p.Gly65ValfsTer?) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81670951C>A | CA353689062 | GBE1 | c.316G>T (p.Gly106Cys) n.32G>T c.193G>T (p.Gly65Cys) | gnomAD v4 |
| 3 | g.81670951C= | CA1378743439 | GBE1 | c.316G= (p.Gly106=) n.32G= c.193G= (p.Gly65=) | |
| 3 | g.81670951C>G | CA353689061 | GBE1 | c.316G>C (p.Gly106Arg) n.32G>C c.193G>C (p.Gly65Arg) | |
| 3 | g.81670951C>T | CA78294826 | GBE1 | c.316G>A (p.Gly106Ser) n.32G>A c.193G>A (p.Gly65Ser) | dbSNP gnomAD v4 |
| 3 | g.81670952A>C | CA353689063 | GBE1 | c.315T>G (p.Asn105Lys) n.31T>G c.192T>G (p.Asn64Lys) | |
| 3 | g.81670952A>G | CA434496963 | GBE1 | c.315T>C (p.Asn105=) n.31T>C c.192T>C (p.Asn64=) | gnomAD v4 |
| 3 | g.81670952A>T | CA353689064 | GBE1 | c.315T>A (p.Asn105Lys) n.31T>A c.192T>A (p.Asn64Lys) | gnomAD v4 |