UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81593924A>C | CA353685747 | GBE1 | c.1092T>G (p.Tyr364Ter) c.969T>G (p.Tyr323Ter) | |
| 3 | g.81593924A>G | CA434493782 | GBE1 | c.1092T>C (p.Tyr364=) c.969T>C (p.Tyr323=) | gnomAD v4 |
| 3 | g.81593924A>T | CA353685748 | GBE1 | c.1092T>A (p.Tyr364Ter) c.969T>A (p.Tyr323Ter) | |
| 3 | g.81593925T>A | CA353685751 | GBE1 | c.1091A>T (p.Tyr364Phe) c.968A>T (p.Tyr323Phe) | gnomAD v4 |
| 3 | g.81593925T>C | CA353685750 | GBE1 | c.1091A>G (p.Tyr364Cys) c.968A>G (p.Tyr323Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593925T>G | CA353685749 | GBE1 | c.1091A>C (p.Tyr364Ser) c.968A>C (p.Tyr323Ser) | |
| 3 | g.81593925T= | CA1378705239 | GBE1 | c.1091A= (p.Tyr364=) c.968A= (p.Tyr323=) | |
| 3 | g.81593926A= | CA1378705240 | GBE1 | c.1090T= (p.Tyr364=) c.967T= (p.Tyr323=) | |
| 3 | g.81593926A>C | CA353685752 | GBE1 | c.1090T>G (p.Tyr364Asp) c.967T>G (p.Tyr323Asp) | |
| 3 | g.81593926A>G | CA353685753 | GBE1 | c.1090T>C (p.Tyr364His) c.967T>C (p.Tyr323His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81593926A>T | CA353685754 | GBE1 | c.1090T>A (p.Tyr364Asn) c.967T>A (p.Tyr323Asn) | |
| 3 | g.81593928del | CA2666604929 | GBE1 | c.1090del (p.Tyr364IlefsTer22) c.967del (p.Tyr323IlefsTer22) | gnomAD v4 |
| 3 | g.81593927A>C | CA434493783 | GBE1 | c.1089T>G (p.Leu363=) c.966T>G (p.Leu322=) | |
| 3 | g.81593927A>G | CA434493784 | GBE1 | c.1089T>C (p.Leu363=) c.966T>C (p.Leu322=) | gnomAD v4 |
| 3 | g.81593927A>T | CA434493785 | GBE1 | c.1089T>A (p.Leu363=) c.966T>A (p.Leu322=) | |
| 3 | g.81593928A= | CA1378705241 | GBE1 | c.1088T= (p.Leu363=) c.965T= (p.Leu322=) | |
| 3 | g.81593928A>C | CA353685755 | GBE1 | c.1088T>G (p.Leu363Arg) c.965T>G (p.Leu322Arg) | |
| 3 | g.81593928A>G | CA78286447 | GBE1 | c.1088T>C (p.Leu363Pro) c.965T>C (p.Leu322Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593928A>T | CA353685756 | GBE1 | c.1088T>A (p.Leu363His) c.965T>A (p.Leu322His) | gnomAD v4 |
| 3 | g.81593929G>A | CA353685757 | GBE1 | c.1087C>T (p.Leu363Phe) c.964C>T (p.Leu322Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81593929G>C | CA353685758 | GBE1 | c.1087C>G (p.Leu363Val) c.964C>G (p.Leu322Val) | gnomAD v4 |
| 3 | g.81593929G= | CA1378705242 | GBE1 | c.1087C= (p.Leu363=) c.964C= (p.Leu322=) | |
| 3 | g.81593929G>T | CA353685759 | GBE1 | c.1087C>A (p.Leu363Ile) c.964C>A (p.Leu322Ile) | gnomAD v4 |
| 3 | g.81593930C>A | CA353685760 | GBE1 | c.1086G>T (p.Met362Ile) c.963G>T (p.Met321Ile) | gnomAD v4 |
| 3 | g.81593930C>G | CA353685761 | GBE1 | c.1086G>C (p.Met362Ile) c.963G>C (p.Met321Ile) | |
| 3 | g.81593930C>T | CA353685762 | GBE1 | c.1086G>A (p.Met362Ile) c.963G>A (p.Met321Ile) | gnomAD v4 |
| 3 | g.81593931A>C | CA353685764 | GBE1 | c.1085T>G (p.Met362Arg) c.962T>G (p.Met321Arg) | |
| 3 | g.81593931A>G | CA353685765 | GBE1 | c.1085T>C (p.Met362Thr) c.962T>C (p.Met321Thr) | |
| 3 | g.81593931A>T | CA353685763 | GBE1 | c.1085T>A (p.Met362Lys) c.962T>A (p.Met321Lys) | gnomAD v4 |
| 3 | g.81593932T>A | CA353685766 | GBE1 | c.1084A>T (p.Met362Leu) c.961A>T (p.Met321Leu) | |
| 3 | g.81593932T>C | CA353685767 | GBE1 | c.1084A>G (p.Met362Val) c.961A>G (p.Met321Val) | dbSNP |
| 3 | g.81593932T>G | CA353685768 | GBE1 | c.1084A>C (p.Met362Leu) c.961A>C (p.Met321Leu) | |
| 3 | g.81593932T= | CA1378705243 | GBE1 | c.1084A= (p.Met362=) c.961A= (p.Met321=) | |
| 3 | g.81593933G>A | CA2499796 | GBE1 | c.1083C>T (p.Ser361=) c.960C>T (p.Ser320=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81593933G>C | CA434493786 | GBE1 | c.1083C>G (p.Ser361=) c.960C>G (p.Ser320=) | |
| 3 | g.81593933G= | CA1378705244 | GBE1 | c.1083C= (p.Ser361=) c.960C= (p.Ser320=) | |
| 3 | g.81593933G>T | CA434493787 | GBE1 | c.1083C>A (p.Ser361=) c.960C>A (p.Ser320=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81593934del | CA2577825814 | GBE1 | c.1083del (p.Met362CysfsTer24) c.960del (p.Met321CysfsTer24) | gnomAD v4 |
| 3 | g.81593934G>A | CA353685769 | GBE1 | c.1082C>T (p.Ser361Phe) c.959C>T (p.Ser320Phe) | gnomAD v4 |
| 3 | g.81593934G>C | CA353685770 | GBE1 | c.1082C>G (p.Ser361Cys) c.959C>G (p.Ser320Cys) | |
| 3 | g.81593934G>T | CA353685771 | GBE1 | c.1082C>A (p.Ser361Tyr) c.959C>A (p.Ser320Tyr) | gnomAD v4 |
| 3 | g.81593935A>C | CA353685772 | GBE1 | c.1081T>G (p.Ser361Ala) c.958T>G (p.Ser320Ala) | |
| 3 | g.81593935A>G | CA353685774 | GBE1 | c.1081T>C (p.Ser361Pro) c.958T>C (p.Ser320Pro) | gnomAD v4 |
| 3 | g.81593935A>T | CA353685773 | GBE1 | c.1081T>A (p.Ser361Thr) c.958T>A (p.Ser320Thr) | |
| 3 | g.81593936C>A | CA434493788 | GBE1 | c.1080G>T (p.Thr360=) c.957G>T (p.Thr319=) | gnomAD v4 |
| 3 | g.81593936C= | CA1378705245 | GBE1 | c.1080G= (p.Thr360=) c.957G= (p.Thr319=) | |
| 3 | g.81593936C>G | CA434493789 | GBE1 | c.1080G>C (p.Thr360=) c.957G>C (p.Thr319=) | gnomAD v4 |
| 3 | g.81593936C>T | CA2499797 | GBE1 | c.1080G>A (p.Thr360=) c.957G>A (p.Thr319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81593937G>A | CA2499798 | GBE1 | c.1079C>T (p.Thr360Met) c.956C>T (p.Thr319Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81593937G>C | CA353685775 | GBE1 | c.1079C>G (p.Thr360Arg) c.956C>G (p.Thr319Arg) | gnomAD v4 |
| 3 | g.81593937G= | CA1378705246 | GBE1 | c.1079C= (p.Thr360=) c.956C= (p.Thr319=) | |
| 3 | g.81593937G>T | CA353685776 | GBE1 | c.1079C>A (p.Thr360Lys) c.956C>A (p.Thr319Lys) | gnomAD v4 |
| 3 | g.81593938T>A | CA353685777 | GBE1 | c.1078A>T (p.Thr360Ser) c.955A>T (p.Thr319Ser) | |
| 3 | g.81593938T>C | CA353685779 | GBE1 | c.1078A>G (p.Thr360Ala) c.955A>G (p.Thr319Ala) | gnomAD v4 |
| 3 | g.81593938T>G | CA353685778 | GBE1 | c.1078A>C (p.Thr360Pro) c.955A>C (p.Thr319Pro) | |
| 3 | g.81593939A= | CA1378705247 | GBE1 | c.1077T= (p.Val359=) c.954T= (p.Val318=) | |
| 3 | g.81593939A>C | CA434493790 | GBE1 | c.1077T>G (p.Val359=) c.954T>G (p.Val318=) | |
| 3 | g.81593939A>G | CA434493791 | GBE1 | c.1077T>C (p.Val359=) c.954T>C (p.Val318=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81593939A>T | CA434493792 | GBE1 | c.1077T>A (p.Val359=) c.954T>A (p.Val318=) | |
| 3 | g.81593940dup | CA2586972634 | GBE1 | c.1077dup (p.Thr360TyrfsTer17) c.954dup (p.Thr319TyrfsTer17) | |
| 3 | g.81593940A>C | CA353685780 | GBE1 | c.1076T>G (p.Val359Gly) c.953T>G (p.Val318Gly) | |
| 3 | g.81593940A>G | CA353685781 | GBE1 | c.1076T>C (p.Val359Ala) c.953T>C (p.Val318Ala) | |
| 3 | g.81593940A>T | CA353685782 | GBE1 | c.1076T>A (p.Val359Asp) c.953T>A (p.Val318Asp) | |
| 3 | g.81593941C>A | CA353685783 | GBE1 | c.1075G>T (p.Val359Phe) c.952G>T (p.Val318Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593941C= | CA1378705248 | GBE1 | c.1075G= (p.Val359=) c.952G= (p.Val318=) | |
| 3 | g.81593941C>G | CA353685784 | GBE1 | c.1075G>C (p.Val359Leu) c.952G>C (p.Val318Leu) | |
| 3 | g.81593941C>T | CA353685785 | GBE1 | c.1075G>A (p.Val359Ile) c.952G>A (p.Val318Ile) | gnomAD v4 |
| 3 | g.81593942A>C | CA434493793 | GBE1 | c.1074T>G (p.Gly358=) c.951T>G (p.Gly317=) | |
| 3 | g.81593942A>G | CA434493794 | GBE1 | c.1074T>C (p.Gly358=) c.951T>C (p.Gly317=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81593942A>T | CA434493795 | GBE1 | c.1074T>A (p.Gly358=) c.951T>A (p.Gly317=) | |
| 3 | g.81593943C>A | CA353685786 | GBE1 | c.1073G>T (p.Gly358Val) c.950G>T (p.Gly317Val) | |
| 3 | g.81593943C= | CA1378705249 | GBE1 | c.1073G= (p.Gly358=) c.950G= (p.Gly317=) | |
| 3 | g.81593943C>G | CA2499799 | GBE1 | c.1073G>C (p.Gly358Ala) c.950G>C (p.Gly317Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81593943C>T | CA353685787 | GBE1 | c.1073G>A (p.Gly358Asp) c.950G>A (p.Gly317Asp) | gnomAD v4 |
| 3 | g.81593944C>A | CA353685788 | GBE1 | c.1072G>T (p.Gly358Cys) c.949G>T (p.Gly317Cys) | gnomAD v4 |
| 3 | g.81593944C>G | CA353685789 | GBE1 | c.1072G>C (p.Gly358Arg) c.949G>C (p.Gly317Arg) | |
| 3 | g.81593944C>T | CA353685790 | GBE1 | c.1072G>A (p.Gly358Ser) c.949G>A (p.Gly317Ser) | gnomAD v4 |
| 3 | g.81593945A= | CA1378705250 | GBE1 | c.1071T= (p.Asp357=) c.948T= (p.Asp316=) | |
| 3 | g.81593945A>C | CA353685791 | GBE1 | c.1071T>G (p.Asp357Glu) c.948T>G (p.Asp316Glu) | |
| 3 | g.81593945A>G | CA78286448 | GBE1 | c.1071T>C (p.Asp357=) c.948T>C (p.Asp316=) | dbSNP |
| 3 | g.81593945A>T | CA353685792 | GBE1 | c.1071T>A (p.Asp357Glu) c.948T>A (p.Asp316Glu) | |
| 3 | g.81593946T>A | CA353685793 | GBE1 | c.1070A>T (p.Asp357Val) c.947A>T (p.Asp316Val) | gnomAD v4 |
| 3 | g.81593946T>C | CA353685795 | GBE1 | c.1070A>G (p.Asp357Gly) c.947A>G (p.Asp316Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81593946T>G | CA353685794 | GBE1 | c.1070A>C (p.Asp357Ala) c.947A>C (p.Asp316Ala) | |
| 3 | g.81593946T= | CA1378705251 | GBE1 | c.1070A= (p.Asp357=) c.947A= (p.Asp316=) | |
| 3 | g.81593947C>A | CA353685796 | GBE1 | c.1069G>T (p.Asp357Tyr) c.946G>T (p.Asp316Tyr) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81593947C>G | CA353685798 | GBE1 | c.1069G>C (p.Asp357His) c.946G>C (p.Asp316His) | |
| 3 | g.81593947C>T | CA353685797 | GBE1 | c.1069G>A (p.Asp357Asn) c.946G>A (p.Asp316Asn) | |
| 3 | g.81593948A>C | CA353685799 | GBE1 | c.1068T>G (p.Phe356Leu) c.945T>G (p.Phe315Leu) | COSMIC COSMIC |
| 3 | g.81593948A>G | CA434493796 | GBE1 | c.1068T>C (p.Phe356=) c.945T>C (p.Phe315=) | ClinVar gnomAD v4 |
| 3 | g.81593948A>T | CA353685800 | GBE1 | c.1068T>A (p.Phe356Leu) c.945T>A (p.Phe315Leu) | |
| 3 | g.81593951del | CA2666604930 | GBE1 | c.1068del (p.Phe356LeufsTer30) c.945del (p.Phe315LeufsTer30) | gnomAD v4 |
| 3 | g.81593949A= | CA1378705252 | GBE1 | c.1067T= (p.Phe356=) c.944T= (p.Phe315=) | |
| 3 | g.81593949A>C | CA353685801 | GBE1 | c.1067T>G (p.Phe356Cys) c.944T>G (p.Phe315Cys) | |
| 3 | g.81593949A>G | CA353685802 | GBE1 | c.1067T>C (p.Phe356Ser) c.944T>C (p.Phe315Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81593949A>T | CA353685803 | GBE1 | c.1067T>A (p.Phe356Tyr) c.944T>A (p.Phe315Tyr) | gnomAD v4 |
| 3 | g.81593950A= | CA1378705253 | GBE1 | c.1066T= (p.Phe356=) c.943T= (p.Phe315=) | |
| 3 | g.81593950A>C | CA353685804 | GBE1 | c.1066T>G (p.Phe356Val) c.943T>G (p.Phe315Val) | |
| 3 | g.81593950A>G | CA353685805 | GBE1 | c.1066T>C (p.Phe356Leu) c.943T>C (p.Phe315Leu) | gnomAD v4 |
| 3 | g.81593950A>T | CA353685806 | GBE1 | c.1066T>A (p.Phe356Ile) c.943T>A (p.Phe315Ile) | dbSNP gnomAD v4 |
| 3 | g.81593951A>C | CA434493799 | GBE1 | c.1065T>G (p.Arg355=) c.942T>G (p.Arg314=) | |
| 3 | g.81593951A>G | CA434493798 | GBE1 | c.1065T>C (p.Arg355=) c.942T>C (p.Arg314=) | |
| 3 | g.81593951A>T | CA434493797 | GBE1 | c.1065T>A (p.Arg355=) c.942T>A (p.Arg314=) | |
| 3 | g.81593952C>A | CA353685807 | GBE1 | c.1064G>T (p.Arg355Leu) c.941G>T (p.Arg314Leu) | gnomAD v4 |
| 3 | g.81593952C= | CA1378705254 | GBE1 | c.1064G= (p.Arg355=) c.941G= (p.Arg314=) | |
| 3 | g.81593952C>G | CA353685808 | GBE1 | c.1064G>C (p.Arg355Pro) c.941G>C (p.Arg314Pro) | |
| 3 | g.81593952C>T | CA358066 | GBE1 | c.1064G>A (p.Arg355His) c.941G>A (p.Arg314His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81593953G>A | CA2499800 | GBE1 | c.1063C>T (p.Arg355Cys) c.940C>T (p.Arg314Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81593953G>C | CA353685810 | GBE1 | c.1063C>G (p.Arg355Gly) c.940C>G (p.Arg314Gly) | |
| 3 | g.81593953G= | CA1378705255 | GBE1 | c.1063C= (p.Arg355=) c.940C= (p.Arg314=) | |
| 3 | g.81593953G>T | CA353685809 | GBE1 | c.1063C>A (p.Arg355Ser) c.940C>A (p.Arg314Ser) | gnomAD v4 |
| 3 | g.81593954A>C | CA353685811 | GBE1 | c.1062T>G (p.Phe354Leu) c.939T>G (p.Phe313Leu) | |
| 3 | g.81593954A>G | CA434493801 | GBE1 | c.1062T>C (p.Phe354=) c.939T>C (p.Phe313=) | gnomAD v4 |
| 3 | g.81593954A>T | CA353685812 | GBE1 | c.1062T>A (p.Phe354Leu) c.939T>A (p.Phe313Leu) | |
| 3 | g.81593955A>C | CA353685813 | GBE1 | c.1061T>G (p.Phe354Cys) c.938T>G (p.Phe313Cys) | |
| 3 | g.81593955A>G | CA353685814 | GBE1 | c.1061T>C (p.Phe354Ser) c.938T>C (p.Phe313Ser) | |
| 3 | g.81593955A>T | CA353685815 | GBE1 | c.1061T>A (p.Phe354Tyr) c.938T>A (p.Phe313Tyr) | |
| 3 | g.81593955_81593956insCAC | CA2756980372 | GBE1 | c.1060_1061insGTG (p.Phe354delinsCysVal) c.937_938insGTG (p.Phe313delinsCysVal) | |
| 3 | g.81593956A>C | CA353685816 | GBE1 | c.1060T>G (p.Phe354Val) c.937T>G (p.Phe313Val) | |
| 3 | g.81593956A>G | CA353685817 | GBE1 | c.1060T>C (p.Phe354Leu) c.937T>C (p.Phe313Leu) | |
| 3 | g.81593956A>T | CA353685818 | GBE1 | c.1060T>A (p.Phe354Ile) c.937T>A (p.Phe313Ile) | |
| 3 | g.81593957T>A | CA434493802 | GBE1 | c.1059A>T (p.Gly353=) c.936A>T (p.Gly312=) | |
| 3 | g.81593957T>C | CA434493804 | GBE1 | c.1059A>G (p.Gly353=) c.936A>G (p.Gly312=) | gnomAD v4 |
| 3 | g.81593957T>G | CA434493803 | GBE1 | c.1059A>C (p.Gly353=) c.936A>C (p.Gly312=) | dbSNP |
| 3 | g.81593957T= | CA1378705256 | GBE1 | c.1059A= (p.Gly353=) c.936A= (p.Gly312=) | |
| 3 | g.81593958C>A | CA353685819 | GBE1 | c.1058G>T (p.Gly353Val) c.935G>T (p.Gly312Val) | gnomAD v4 |
| 3 | g.81593958C>G | CA353685820 | GBE1 | c.1058G>C (p.Gly353Ala) c.935G>C (p.Gly312Ala) | |
| 3 | g.81593958C>T | CA353685821 | GBE1 | c.1058G>A (p.Gly353Glu) c.935G>A (p.Gly312Glu) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81593959C>A | CA353685824 | GBE1 | c.1057G>T (p.Gly353Ter) c.934G>T (p.Gly312Ter) | gnomAD v4 |
| 3 | g.81593959C= | CA1378705258 | GBE1 | c.1057G= (p.Gly353=) c.934G= (p.Gly312=) | |
| 3 | g.81593959C>G | CA353685823 | GBE1 | c.1057G>C (p.Gly353Arg) c.934G>C (p.Gly312Arg) | |
| 3 | g.81593959C>T | CA353685822 | GBE1 | c.1057G>A (p.Gly353Arg) c.934G>A (p.Gly312Arg) | dbSNP gnomAD v4 |
| 3 | g.81593959_81593960delinsCA | CA1378705257 | GBE1 | c.1056_1057delinsTG (p.Asp352=) c.933_934delinsTG (p.Asp311=) | |
| 3 | g.81593960del | CA544282979 | GBE1 | c.1056del (p.Asp352GlufsTer?) c.933del (p.Asp311GlufsTer?) | dbSNP gnomAD v2 |
| 3 | g.81593960A>C | CA353685825 | GBE1 | c.1056T>G (p.Asp352Glu) c.933T>G (p.Asp311Glu) | |
| 3 | g.81593960A>G | CA434493805 | GBE1 | c.1056T>C (p.Asp352=) c.933T>C (p.Asp311=) | gnomAD v4 |
| 3 | g.81593960A>T | CA353685826 | GBE1 | c.1056T>A (p.Asp352Glu) c.933T>A (p.Asp311Glu) | |
| 3 | g.81593961T>A | CA353685827 | GBE1 | c.1055A>T (p.Asp352Val) c.932A>T (p.Asp311Val) | |
| 3 | g.81593961T>C | CA353685828 | GBE1 | c.1055A>G (p.Asp352Gly) c.932A>G (p.Asp311Gly) | gnomAD v4 |
| 3 | g.81593961T>G | CA353685829 | GBE1 | c.1055A>C (p.Asp352Ala) c.932A>C (p.Asp311Ala) | |
| 3 | g.81593962C>A | CA353685830 | GBE1 | c.1054G>T (p.Asp352Tyr) c.931G>T (p.Asp311Tyr) | gnomAD v4 |
| 3 | g.81593962C= | CA1378705259 | GBE1 | c.1054G= (p.Asp352=) c.931G= (p.Asp311=) | |
| 3 | g.81593962C>G | CA2499801 | GBE1 | c.1054G>C (p.Asp352His) c.931G>C (p.Asp311His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81593962C>T | CA353685831 | GBE1 | c.1054G>A (p.Asp352Asn) c.931G>A (p.Asp311Asn) | |
| 3 | g.81593963A= | CA1378705260 | GBE1 | c.1053T= (p.Phe351=) c.930T= (p.Phe310=) | |
| 3 | g.81593963A>C | CA353685832 | GBE1 | c.1053T>G (p.Phe351Leu) c.930T>G (p.Phe310Leu) | |
| 3 | g.81593963A>G | CA434493806 | GBE1 | c.1053T>C (p.Phe351=) c.930T>C (p.Phe310=) | dbSNP gnomAD v4 |
| 3 | g.81593963A>T | CA353685833 | GBE1 | c.1053T>A (p.Phe351Leu) c.930T>A (p.Phe310Leu) | |
| 3 | g.81593965del | CA2695197939 | GBE1 | c.1053del (p.Phe351LeufsTer?) c.930del (p.Phe310LeufsTer?) | ClinVar |
| 3 | g.81593964A>C | CA353685834 | GBE1 | c.1052T>G (p.Phe351Cys) c.929T>G (p.Phe310Cys) | |
| 3 | g.81593964A>G | CA353685835 | GBE1 | c.1052T>C (p.Phe351Ser) c.929T>C (p.Phe310Ser) | |
| 3 | g.81593964A>T | CA353685836 | GBE1 | c.1052T>A (p.Phe351Tyr) c.929T>A (p.Phe310Tyr) | |
| 3 | g.81593965A= | CA1378705261 | GBE1 | c.1051T= (p.Phe351=) c.928T= (p.Phe310=) | |
| 3 | g.81593965A>C | CA2499802 | GBE1 | c.1051T>G (p.Phe351Val) c.928T>G (p.Phe310Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81593965A>G | CA353685838 | GBE1 | c.1051T>C (p.Phe351Leu) c.928T>C (p.Phe310Leu) | |
| 3 | g.81593965A>T | CA353685837 | GBE1 | c.1051T>A (p.Phe351Ile) c.928T>A (p.Phe310Ile) | |
| 3 | g.81593966G>A | CA434493807 | GBE1 | c.1050C>T (p.Arg350=) c.927C>T (p.Arg309=) | gnomAD v4 |
| 3 | g.81593966G>C | CA434493808 | GBE1 | c.1050C>G (p.Arg350=) c.927C>G (p.Arg309=) | |
| 3 | g.81593966G>T | CA434493809 | GBE1 | c.1050C>A (p.Arg350=) c.927C>A (p.Arg309=) | gnomAD v4 |
| 3 | g.81593967C>A | CA353685839 | GBE1 | c.1049G>T (p.Arg350Leu) c.926G>T (p.Arg309Leu) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.81593967C= | CA1378705262 | GBE1 | c.1049G= (p.Arg350=) c.926G= (p.Arg309=) | |
| 3 | g.81593967C>G | CA353685840 | GBE1 | c.1049G>C (p.Arg350Pro) c.926G>C (p.Arg309Pro) | gnomAD v4 |
| 3 | g.81593967C>T | CA2499803 | GBE1 | c.1049G>A (p.Arg350His) c.926G>A (p.Arg309His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81593968G>A | CA2499804 | GBE1 | c.1048C>T (p.Arg350Cys) c.925C>T (p.Arg309Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81593968G>C | CA353685841 | GBE1 | c.1048C>G (p.Arg350Gly) c.925C>G (p.Arg309Gly) | gnomAD v4 |
| 3 | g.81593968G= | CA1378705263 | GBE1 | c.1048C= (p.Arg350=) c.925C= (p.Arg309=) | |
| 3 | g.81593968G>T | CA353685842 | GBE1 | c.1048C>A (p.Arg350Ser) c.925C>A (p.Arg309Ser) | gnomAD v4 |
| 3 | g.81593969A= | CA1378705264 | GBE1 | c.1047T= (p.Tyr349=) c.924T= (p.Tyr308=) | |
| 3 | g.81593969A>C | CA353685843 | GBE1 | c.1047T>G (p.Tyr349Ter) c.924T>G (p.Tyr308Ter) | |
| 3 | g.81593969A>G | CA434493810 | GBE1 | c.1047T>C (p.Tyr349=) c.924T>C (p.Tyr308=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593969A>T | CA353685844 | GBE1 | c.1047T>A (p.Tyr349Ter) c.924T>A (p.Tyr308Ter) | gnomAD v4 |
| 3 | g.81593970T>A | CA353685845 | GBE1 | c.1046A>T (p.Tyr349Phe) c.923A>T (p.Tyr308Phe) | gnomAD v4 |
| 3 | g.81593970T>C | CA353685846 | GBE1 | c.1046A>G (p.Tyr349Cys) c.923A>G (p.Tyr308Cys) | gnomAD v4 |
| 3 | g.81593970T>G | CA353685847 | GBE1 | c.1046A>C (p.Tyr349Ser) c.923A>C (p.Tyr308Ser) | |
| 3 | g.81593971A= | CA1378705265 | GBE1 | c.1045T= (p.Tyr349=) c.922T= (p.Tyr308=) | |
| 3 | g.81593971A>C | CA353685849 | GBE1 | c.1045T>G (p.Tyr349Asp) c.922T>G (p.Tyr308Asp) | |
| 3 | g.81593971A>G | CA353685850 | GBE1 | c.1045T>C (p.Tyr349His) c.922T>C (p.Tyr308His) | dbSNP |
| 3 | g.81593971A>T | CA353685848 | GBE1 | c.1045T>A (p.Tyr349Asn) c.922T>A (p.Tyr308Asn) | gnomAD v4 |
| 3 | g.81593971_81593972insCTCTGTAAGCCAATACTTACAATTTGACAATAAAAAATGAATTACTTCA | CA2537732034 | GBE1 | c.1045_1046insGAAGTAATTCATTTTTTATTGTCAAATTGTAAGTATTGGCTTACAGAGT (p.Tyr349Ter) c.922_923insGAAGTAATTCATTTTTTATTGTCAAATTGTAAGTATTGGCTTACAGAGT (p.Tyr308Ter) | |
| 3 | g.81593972T>A | CA353685851 | GBE1 | c.1044A>T (p.Glu348Asp) c.921A>T (p.Glu307Asp) | |
| 3 | g.81593972T>C | CA434493811 | GBE1 | c.1044A>G (p.Glu348=) c.921A>G (p.Glu307=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593972T>G | CA353685852 | GBE1 | c.1044A>C (p.Glu348Asp) c.921A>C (p.Glu307Asp) | dbSNP |
| 3 | g.81593972T= | CA1378705266 | GBE1 | c.1044A= (p.Glu348=) c.921A= (p.Glu307=) | |
| 3 | g.81593973T>A | CA353685853 | GBE1 | c.1043A>T (p.Glu348Val) c.920A>T (p.Glu307Val) | gnomAD v4 |
| 3 | g.81593973T>C | CA353685854 | GBE1 | c.1043A>G (p.Glu348Gly) c.920A>G (p.Glu307Gly) | |
| 3 | g.81593973T>G | CA353685855 | GBE1 | c.1043A>C (p.Glu348Ala) c.920A>C (p.Glu307Ala) | |
| 3 | g.81593974C>A | CA353685856 | GBE1 | c.1042G>T (p.Glu348Ter) c.919G>T (p.Glu307Ter) | gnomAD v4 |
| 3 | g.81593974C>G | CA353685857 | GBE1 | c.1042G>C (p.Glu348Gln) c.919G>C (p.Glu307Gln) | |
| 3 | g.81593974C>T | CA353685858 | GBE1 | c.1042G>A (p.Glu348Lys) c.919G>A (p.Glu307Lys) | gnomAD v4 |
| 3 | g.81593974_81593975delinsCT | CA1378705267 | GBE1 | c.1041_1042delinsAG (p.Glu347=) c.918_919delinsAG (p.Glu306=) | |
| 3 | g.81593975T>A | CA353685859 | GBE1 | c.1041A>T (p.Glu347Asp) c.918A>T (p.Glu306Asp) | gnomAD v4 |
| 3 | g.81593975T>C | CA434493815 | GBE1 | c.1041A>G (p.Glu347=) c.918A>G (p.Glu306=) | gnomAD v4 |
| 3 | g.81593975T>G | CA353685860 | GBE1 | c.1041A>C (p.Glu347Asp) c.918A>C (p.Glu306Asp) | |
| 3 | g.81593976del | CA1378705268 | GBE1 | c.1041del (p.Glu348AsnfsTer?) c.918del (p.Glu307AsnfsTer?) | dbSNP |
| 3 | g.81593976T>A | CA353685861 | GBE1 | c.1040A>T (p.Glu347Val) c.917A>T (p.Glu306Val) | gnomAD v4 |
| 3 | g.81593976T>C | CA353685862 | GBE1 | c.1040A>G (p.Glu347Gly) c.917A>G (p.Glu306Gly) | gnomAD v4 |
| 3 | g.81593976T>G | CA353685863 | GBE1 | c.1040A>C (p.Glu347Ala) c.917A>C (p.Glu306Ala) | |
| 3 | g.81593977C>A | CA353685866 | GBE1 | c.1039G>T (p.Glu347Ter) c.916G>T (p.Glu306Ter) | gnomAD v4 |
| 3 | g.81593977C>G | CA353685865 | GBE1 | c.1039G>C (p.Glu347Gln) c.916G>C (p.Glu306Gln) | gnomAD v4 |
| 3 | g.81593977C>T | CA353685864 | GBE1 | c.1039G>A (p.Glu347Lys) c.916G>A (p.Glu306Lys) | gnomAD v4 |
| 3 | g.81593978C>A | CA353685867 | GBE1 | c.1038G>T (p.Leu346Phe) c.915G>T (p.Leu305Phe) | gnomAD v4 |
| 3 | g.81593978C= | CA1378705269 | GBE1 | c.1038G= (p.Leu346=) c.915G= (p.Leu305=) | |
| 3 | g.81593978C>G | CA353685868 | GBE1 | c.1038G>C (p.Leu346Phe) c.915G>C (p.Leu305Phe) | |
| 3 | g.81593978C>T | CA2499805 | GBE1 | c.1038G>A (p.Leu346=) c.915G>A (p.Leu305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81593979A>C | CA353685869 | GBE1 | c.1037T>G (p.Leu346Trp) c.914T>G (p.Leu305Trp) | |
| 3 | g.81593979A>G | CA353685870 | GBE1 | c.1037T>C (p.Leu346Ser) c.914T>C (p.Leu305Ser) | gnomAD v4 |
| 3 | g.81593979A>T | CA353685871 | GBE1 | c.1037T>A (p.Leu346Ter) c.914T>A (p.Leu305Ter) | gnomAD v4 |
| 3 | g.81593980A>C | CA353685872 | GBE1 | c.1036T>G (p.Leu346Val) c.913T>G (p.Leu305Val) | |
| 3 | g.81593980A>G | CA434493818 | GBE1 | c.1036T>C (p.Leu346=) c.913T>C (p.Leu305=) | gnomAD v4 |
| 3 | g.81593980A>T | CA353685873 | GBE1 | c.1036T>A (p.Leu346Met) c.913T>A (p.Leu305Met) | gnomAD v4 |
| 3 | g.81593981C>A | CA353685874 | GBE1 | c.1035G>T (p.Trp345Cys) c.912G>T (p.Trp304Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81593981C= | CA1378705270 | GBE1 | c.1035G= (p.Trp345=) c.912G= (p.Trp304=) | |
| 3 | g.81593981C>G | CA353685875 | GBE1 | c.1035G>C (p.Trp345Cys) c.912G>C (p.Trp304Cys) | |
| 3 | g.81593981C>T | CA353685876 | GBE1 | c.1035G>A (p.Trp345Ter) c.912G>A (p.Trp304Ter) | gnomAD v4 |
| 3 | g.81593982del | CA2577825815 | GBE1 | c.1035del (p.Trp345CysfsTer?) c.912del (p.Trp304CysfsTer?) | gnomAD v4 |
| 3 | g.81593982C>A | CA353685877 | GBE1 | c.1034G>T (p.Trp345Leu) c.911G>T (p.Trp304Leu) | gnomAD v4 |
| 3 | g.81593982C= | CA1378705271 | GBE1 | c.1034G= (p.Trp345=) c.911G= (p.Trp304=) | |
| 3 | g.81593982C>G | CA353685878 | GBE1 | c.1034G>C (p.Trp345Ser) c.911G>C (p.Trp304Ser) | gnomAD v4 |
| 3 | g.81593982C>T | CA353685879 | GBE1 | c.1034G>A (p.Trp345Ter) c.911G>A (p.Trp304Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593983A>C | CA353685881 | GBE1 | c.1033T>G (p.Trp345Gly) c.910T>G (p.Trp304Gly) | |
| 3 | g.81593983A>G | CA353685882 | GBE1 | c.1033T>C (p.Trp345Arg) c.910T>C (p.Trp304Arg) | gnomAD v4 |
| 3 | g.81593983A>T | CA353685880 | GBE1 | c.1033T>A (p.Trp345Arg) c.910T>A (p.Trp304Arg) | gnomAD v4 |
| 3 | g.81593984C>A | CA353685883 | GBE1 | c.1032G>T (p.Trp344Cys) c.909G>T (p.Trp303Cys) | gnomAD v4 |
| 3 | g.81593984C>G | CA353685884 | GBE1 | c.1032G>C (p.Trp344Cys) c.909G>C (p.Trp303Cys) | |
| 3 | g.81593984C>T | CA353685885 | GBE1 | c.1032G>A (p.Trp344Ter) c.909G>A (p.Trp303Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81593985del | CA2666604931 | GBE1 | c.1032del (p.Trp344CysfsTer?) c.909del (p.Trp303CysfsTer?) | gnomAD v4 |
| 3 | g.81593985C>A | CA2499806 | GBE1 | c.1031G>T (p.Trp344Leu) c.908G>T (p.Trp303Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81593985C= | CA1378705272 | GBE1 | c.1031G= (p.Trp344=) c.908G= (p.Trp303=) | |
| 3 | g.81593985C>G | CA353685886 | GBE1 | c.1031G>C (p.Trp344Ser) c.908G>C (p.Trp303Ser) | |
| 3 | g.81593985C>T | CA353685887 | GBE1 | c.1031G>A (p.Trp344Ter) c.908G>A (p.Trp303Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81593986A= | CA1378705273 | GBE1 | c.1030T= (p.Trp344=) c.907T= (p.Trp303=) | |
| 3 | g.81593986A>C | CA353685888 | GBE1 | c.1030T>G (p.Trp344Gly) c.907T>G (p.Trp303Gly) | |
| 3 | g.81593986A>G | CA353685889 | GBE1 | c.1030T>C (p.Trp344Arg) c.907T>C (p.Trp303Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81593986A>T | CA353685890 | GBE1 | c.1030T>A (p.Trp344Arg) c.907T>A (p.Trp303Arg) | |
| 3 | g.81593987T>A | CA353685891 | GBE1 | c.1029A>T (p.Arg343Ser) c.906A>T (p.Arg302Ser) | gnomAD v4 |
| 3 | g.81593987T>C | CA434493825 | GBE1 | c.1029A>G (p.Arg343=) c.906A>G (p.Arg302=) | gnomAD v4 |
| 3 | g.81593987T>G | CA353685892 | GBE1 | c.1029A>C (p.Arg343Ser) c.906A>C (p.Arg302Ser) | |
| 3 | g.81593988C>A | CA353685893 | GBE1 | c.1028G>T (p.Arg343Ile) c.905G>T (p.Arg302Ile) | gnomAD v4 |
| 3 | g.81593988C>G | CA353685894 | GBE1 | c.1028G>C (p.Arg343Thr) c.905G>C (p.Arg302Thr) | gnomAD v4 |
| 3 | g.81593988C>T | CA353685895 | GBE1 | c.1028G>A (p.Arg343Lys) c.905G>A (p.Arg302Lys) | gnomAD v4 |
| 3 | g.81593989T>A | CA353685896 | GBE1 | c.1027A>T (p.Arg343Ter) c.904A>T (p.Arg302Ter) | gnomAD v4 |
| 3 | g.81593989T>C | CA353685897 | GBE1 | c.1027A>G (p.Arg343Gly) c.904A>G (p.Arg302Gly) | ClinVar gnomAD v4 |
| 3 | g.81593989T>G | CA434493827 | GBE1 | c.1027A>C (p.Arg343=) c.904A>C (p.Arg302=) | gnomAD v4 |
| 3 | g.81593990del | CA2577825816 | GBE1 | c.1027del (p.Arg343AspfsTer?) c.904del (p.Arg302AspfsTer?) | gnomAD v4 |
| 3 | g.81593990T>A | CA434493828 | GBE1 | c.1026A>T (p.Ile342=) c.903A>T (p.Ile301=) | |
| 3 | g.81593990T>C | CA353685898 | GBE1 | c.1026A>G (p.Ile342Met) c.903A>G (p.Ile301Met) | gnomAD v4 |
| 3 | g.81593990T>G | CA434493831 | GBE1 | c.1026A>C (p.Ile342=) c.903A>C (p.Ile301=) | ClinVar |
| 3 | g.81593991A>C | CA353685899 | GBE1 | c.1025T>G (p.Ile342Arg) c.902T>G (p.Ile301Arg) | gnomAD v4 |
| 3 | g.81593991A>G | CA353685900 | GBE1 | c.1025T>C (p.Ile342Thr) c.902T>C (p.Ile301Thr) | gnomAD v4 |
| 3 | g.81593991A>T | CA353685901 | GBE1 | c.1025T>A (p.Ile342Lys) c.902T>A (p.Ile301Lys) | |
| 3 | g.81593992T>A | CA353685902 | GBE1 | c.1024A>T (p.Ile342Leu) c.901A>T (p.Ile301Leu) | |
| 3 | g.81593992T>C | CA353685903 | GBE1 | c.1024A>G (p.Ile342Val) c.901A>G (p.Ile301Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81593992T>G | CA353685904 | GBE1 | c.1024A>C (p.Ile342Leu) c.901A>C (p.Ile301Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593992T= | CA1378705274 | GBE1 | c.1024A= (p.Ile342=) c.901A= (p.Ile301=) | |
| 3 | g.81593993G>A | CA434493833 | GBE1 | c.1023C>T (p.Asn341=) c.900C>T (p.Asn300=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81593993G>C | CA353685905 | GBE1 | c.1023C>G (p.Asn341Lys) c.900C>G (p.Asn300Lys) | |
| 3 | g.81593993G>T | CA353685906 | GBE1 | c.1023C>A (p.Asn341Lys) c.900C>A (p.Asn300Lys) | gnomAD v4 |
| 3 | g.81593994T>A | CA353685907 | GBE1 | c.1022A>T (p.Asn341Ile) c.899A>T (p.Asn300Ile) | gnomAD v4 |
| 3 | g.81593994T>C | CA353685908 | GBE1 | c.1022A>G (p.Asn341Ser) c.899A>G (p.Asn300Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593994T>G | CA353685909 | GBE1 | c.1022A>C (p.Asn341Thr) c.899A>C (p.Asn300Thr) | |
| 3 | g.81593994T= | CA1378705275 | GBE1 | c.1022A= (p.Asn341=) c.899A= (p.Asn300=) | |
| 3 | g.81593996del | CA2666604932 | GBE1 | c.1022del (p.Asn341ThrfsTer2) c.899del (p.Asn300ThrfsTer2) | gnomAD v4 |
| 3 | g.81593995T>A | CA353685910 | GBE1 | c.1021A>T (p.Asn341Tyr) c.898A>T (p.Asn300Tyr) | |
| 3 | g.81593995T>C | CA353685912 | GBE1 | c.1021A>G (p.Asn341Asp) c.898A>G (p.Asn300Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81593995T>G | CA353685911 | GBE1 | c.1021A>C (p.Asn341His) c.898A>C (p.Asn300His) | |
| 3 | g.81593995T= | CA1378705276 | GBE1 | c.1021A= (p.Asn341=) c.898A= (p.Asn300=) | |
| 3 | g.81593996T>A | CA434493834 | GBE1 | c.1020A>T (p.Ser340=) c.897A>T (p.Ser299=) | gnomAD v4 |
| 3 | g.81593996T>C | CA434493835 | GBE1 | c.1020A>G (p.Ser340=) c.897A>G (p.Ser299=) | gnomAD v4 |
| 3 | g.81593996T>G | CA434493836 | GBE1 | c.1020A>C (p.Ser340=) c.897A>C (p.Ser299=) | gnomAD v4 |
| 3 | g.81593997G>A | CA353685913 | GBE1 | c.1019C>T (p.Ser340Leu) c.896C>T (p.Ser299Leu) | gnomAD v4 |
| 3 | g.81593997G>C | CA353685914 | GBE1 | c.1019C>G (p.Ser340Ter) c.896C>G (p.Ser299Ter) | gnomAD v4 |
| 3 | g.81593997G= | CA1378705277 | GBE1 | c.1019C= (p.Ser340=) c.896C= (p.Ser299=) | |
| 3 | g.81593997G>T | CA2499807 | GBE1 | c.1019C>A (p.Ser340Ter) c.896C>A (p.Ser299Ter) | dbSNP ExAC gnomAD v4 |
| 3 | g.81593998A= | CA1378705278 | GBE1 | c.1018T= (p.Ser340=) c.895T= (p.Ser299=) | |
| 3 | g.81593998A>C | CA353685915 | GBE1 | c.1018T>G (p.Ser340Ala) c.895T>G (p.Ser299Ala) | |
| 3 | g.81593998A>G | CA353685917 | GBE1 | c.1018T>C (p.Ser340Pro) c.895T>C (p.Ser299Pro) | dbSNP gnomAD v4 |
| 3 | g.81593998A>T | CA353685916 | GBE1 | c.1018T>A (p.Ser340Thr) c.895T>A (p.Ser299Thr) | gnomAD v4 |
| 3 | g.81593999C>A | CA434493841 | GBE1 | c.1017G>T (p.Leu339=) c.894G>T (p.Leu298=) | gnomAD v4 |
| 3 | g.81593999C>G | CA434493842 | GBE1 | c.1017G>C (p.Leu339=) c.894G>C (p.Leu298=) | |
| 3 | g.81593999C>T | CA434493840 | GBE1 | c.1017G>A (p.Leu339=) c.894G>A (p.Leu298=) | gnomAD v4 |
| 3 | g.81594000A>C | CA353685918 | GBE1 | c.1016T>G (p.Leu339Arg) c.893T>G (p.Leu298Arg) | |
| 3 | g.81594000A>G | CA353685919 | GBE1 | c.1016T>C (p.Leu339Pro) c.893T>C (p.Leu298Pro) | gnomAD v4 |
| 3 | g.81594000A>T | CA353685920 | GBE1 | c.1016T>A (p.Leu339Gln) c.893T>A (p.Leu298Gln) | |
| 3 | g.81594001G>A | CA434493846 | GBE1 | c.1015C>T (p.Leu339=) c.892C>T (p.Leu298=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81594001G>C | CA353685921 | GBE1 | c.1015C>G (p.Leu339Val) c.892C>G (p.Leu298Val) | gnomAD v4 |
| 3 | g.81594001G= | CA1378705279 | GBE1 | c.1015C= (p.Leu339=) c.892C= (p.Leu298=) | |
| 3 | g.81594001G>T | CA353685922 | GBE1 | c.1015C>A (p.Leu339Met) c.892C>A (p.Leu298Met) | gnomAD v4 |
| 3 | g.81594002A>C | CA434493847 | GBE1 | c.1014T>G (p.Leu338=) c.891T>G (p.Leu297=) | |
| 3 | g.81594002A>G | CA434493848 | GBE1 | c.1014T>C (p.Leu338=) c.891T>C (p.Leu297=) | gnomAD v4 |
| 3 | g.81594002A>T | CA434493849 | GBE1 | c.1014T>A (p.Leu338=) c.891T>A (p.Leu297=) | gnomAD v4 |
| 3 | g.81594003del | CA2666604933 | GBE1 | c.1014del (p.Leu339CysfsTer4) c.891del (p.Leu298CysfsTer4) | gnomAD v4 |
| 3 | g.81594003A>C | CA353685923 | GBE1 | c.1013T>G (p.Leu338Arg) c.890T>G (p.Leu297Arg) | |
| 3 | g.81594003A>G | CA353685924 | GBE1 | c.1013T>C (p.Leu338Pro) c.890T>C (p.Leu297Pro) | gnomAD v4 |
| 3 | g.81594003A>T | CA353685925 | GBE1 | c.1013T>A (p.Leu338His) c.890T>A (p.Leu297His) | gnomAD v4 |
| 3 | g.81594004G>A | CA353685926 | GBE1 | c.1012C>T (p.Leu338Phe) c.889C>T (p.Leu297Phe) | gnomAD v4 |
| 3 | g.81594004G>C | CA353685927 | GBE1 | c.1012C>G (p.Leu338Val) c.889C>G (p.Leu297Val) | |
| 3 | g.81594004G>T | CA353685928 | GBE1 | c.1012C>A (p.Leu338Ile) c.889C>A (p.Leu297Ile) | gnomAD v4 |
| 3 | g.81594005del | CA2666604934 | GBE1 | c.1012del (p.Leu338PhefsTer5) c.889del (p.Leu297PhefsTer5) | gnomAD v4 |
| 3 | g.81594005G>A | CA78286449 | GBE1 | c.1011C>T (p.Phe337=) c.888C>T (p.Phe296=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81594005G>C | CA353685929 | GBE1 | c.1011C>G (p.Phe337Leu) c.888C>G (p.Phe296Leu) | |
| 3 | g.81594005G= | CA1378705280 | GBE1 | c.1011C= (p.Phe337=) c.888C= (p.Phe296=) | |
| 3 | g.81594005G>T | CA353685930 | GBE1 | c.1011C>A (p.Phe337Leu) c.888C>A (p.Phe296Leu) | gnomAD v4 |
| 3 | g.81594006A= | CA1378705281 | GBE1 | c.1010T= (p.Phe337=) c.887T= (p.Phe296=) | |
| 3 | g.81594006A>C | CA353685932 | GBE1 | c.1010T>G (p.Phe337Cys) c.887T>G (p.Phe296Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81594006A>G | CA353685931 | GBE1 | c.1010T>C (p.Phe337Ser) c.887T>C (p.Phe296Ser) | gnomAD v4 |
| 3 | g.81594006A>T | CA2499808 | GBE1 | c.1010T>A (p.Phe337Tyr) c.887T>A (p.Phe296Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81594007A>C | CA353685933 | GBE1 | c.1009T>G (p.Phe337Val) c.886T>G (p.Phe296Val) | |
| 3 | g.81594007A>G | CA353685934 | GBE1 | c.1009T>C (p.Phe337Leu) c.886T>C (p.Phe296Leu) | gnomAD v4 |
| 3 | g.81594007A>T | CA353685935 | GBE1 | c.1009T>A (p.Phe337Ile) c.886T>A (p.Phe296Ile) | |
| 3 | g.81594008T>A | CA353685936 | GBE1 | c.1008A>T (p.Arg336Ser) c.885A>T (p.Arg295Ser) | gnomAD v4 |
| 3 | g.81594008T>C | CA434493852 | GBE1 | c.1008A>G (p.Arg336=) c.885A>G (p.Arg295=) | gnomAD v4 |
| 3 | g.81594008T>G | CA353685937 | GBE1 | c.1008A>C (p.Arg336Ser) c.885A>C (p.Arg295Ser) | |
| 3 | g.81594009C>A | CA353685938 | GBE1 | c.1007G>T (p.Arg336Ile) c.884G>T (p.Arg295Ile) | gnomAD v4 |
| 3 | g.81594009C>G | CA353685939 | GBE1 | c.1007G>C (p.Arg336Thr) c.884G>C (p.Arg295Thr) | |
| 3 | g.81594009C>T | CA353685940 | GBE1 | c.1007G>A (p.Arg336Lys) c.884G>A (p.Arg295Lys) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81594010T>A | CA353685941 | GBE1 | c.1006A>T (p.Arg336Ter) c.883A>T (p.Arg295Ter) | gnomAD v4 |
| 3 | g.81594010T>C | CA353685942 | GBE1 | c.1006A>G (p.Arg336Gly) c.883A>G (p.Arg295Gly) | gnomAD v4 |
| 3 | g.81594010T>G | CA434493857 | GBE1 | c.1006A>C (p.Arg336=) c.883A>C (p.Arg295=) | gnomAD v4 |
| 3 | g.81594011T>A | CA353685943 | GBE1 | c.1005A>T (p.Leu335Phe) c.882A>T (p.Leu294Phe) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81594011T>C | CA434493858 | GBE1 | c.1005A>G (p.Leu335=) c.882A>G (p.Leu294=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81594011T>G | CA353685944 | GBE1 | c.1005A>C (p.Leu335Phe) c.882A>C (p.Leu294Phe) | |
| 3 | g.81594011T= | CA1378705282 | GBE1 | c.1005A= (p.Leu335=) c.882A= (p.Leu294=) | |
| 3 | g.81594012A>C | CA353685945 | GBE1 | c.1004T>G (p.Leu335Ter) c.881T>G (p.Leu294Ter) | |
| 3 | g.81594012A>G | CA353685947 | GBE1 | c.1004T>C (p.Leu335Ser) c.881T>C (p.Leu294Ser) | gnomAD v4 |
| 3 | g.81594012A>T | CA353685946 | GBE1 | c.1004T>A (p.Leu335Ter) c.881T>A (p.Leu294Ter) | gnomAD v4 |
| 3 | g.81594015del | CA2666604935 | GBE1 | c.1004del (p.Leu335Ter) c.881del (p.Leu294Ter) | gnomAD v4 |
| 3 | g.81594013A>C | CA353685948 | GBE1 | c.1003T>G (p.Leu335Val) c.880T>G (p.Leu294Val) | |
| 3 | g.81594013A>G | CA434493861 | GBE1 | c.1003T>C (p.Leu335=) c.880T>C (p.Leu294=) | gnomAD v4 |
| 3 | g.81594013A>T | CA353685949 | GBE1 | c.1003T>A (p.Leu335Ile) c.880T>A (p.Leu294Ile) | |
| 3 | g.81594014A>C | CA353685950 | GBE1 | c.1002T>G (p.Ile334Met) c.879T>G (p.Ile293Met) c.1002T>G (p.Val334=) | |
| 3 | g.81594014A>G | CA434493863 | GBE1 | c.1002T>C (p.Ile334=) c.879T>C (p.Ile293=) c.1002T>C (p.Val334=) | gnomAD v4 |
| 3 | g.81594014A>T | CA434493864 | GBE1 | c.1002T>A (p.Ile334=) c.879T>A (p.Ile293=) c.1002T>A (p.Val334=) | |
| 3 | g.81594015A>C | CA353685951 | GBE1 | c.1001T>G (p.Ile334Ser) c.878T>G (p.Ile293Ser) c.1001T>G (p.Val334Gly) | gnomAD v4 |
| 3 | g.81594015A>G | CA353685952 | GBE1 | c.1001T>C (p.Ile334Thr) c.878T>C (p.Ile293Thr) c.1001T>C (p.Val334Ala) | gnomAD v4 |
| 3 | g.81594015A>T | CA353685953 | GBE1 | c.1001T>A (p.Ile334Asn) c.878T>A (p.Ile293Asn) c.1001T>A (p.Val334Asp) | |
| 3 | g.81594016T>A | CA353685954 | GBE1 | c.1000A>T (p.Ile334Phe) c.877A>T (p.Ile293Phe) | dbSNP gnomAD v4 |
| 3 | g.81594016T>C | CA2499809 | GBE1 | c.1000A>G (p.Ile334Val) c.877A>G (p.Ile293Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81594016T>G | CA353685955 | GBE1 | c.1000A>C (p.Ile334Leu) c.877A>C (p.Ile293Leu) | dbSNP gnomAD v4 |
| 3 | g.81594016T= | CA1378705283 | GBE1 | c.1000A= (p.Ile334=) c.877A= (p.Ile293=) | |
| 3 | g.81594018del | CA2695197941 | GBE1 | c.1000del (p.Ile334PhefsTer2) c.877del (p.Ile293PhefsTer2) | ClinVar |
| 3 | g.81594017T>A | CA353685956 | GBE1 | c.999A>T (p.Glu333Asp) c.876A>T (p.Glu292Asp) | |
| 3 | g.81594017T>C | CA434493866 | GBE1 | c.999A>G (p.Glu333=) c.876A>G (p.Glu292=) | gnomAD v4 |
| 3 | g.81594017T>G | CA353685957 | GBE1 | c.999A>C (p.Glu333Asp) c.876A>C (p.Glu292Asp) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81594018T>A | CA353685960 | GBE1 | c.998A>T (p.Glu333Val) c.875A>T (p.Glu292Val) | ClinVar dbSNP |
| 3 | g.81594018T>C | CA353685959 | GBE1 | c.998A>G (p.Glu333Gly) c.875A>G (p.Glu292Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81594018T>G | CA353685958 | GBE1 | c.998A>C (p.Glu333Ala) c.875A>C (p.Glu292Ala) | |
| 3 | g.81594018T= | CA1378705284 | GBE1 | c.998A= (p.Glu333=) c.875A= (p.Glu292=) | |
| 3 | g.81594019C>A | CA353685961 | GBE1 | c.997G>T (p.Glu333Ter) c.874G>T (p.Glu292Ter) | gnomAD v4 |
| 3 | g.81594019C>G | CA353685962 | GBE1 | c.997G>C (p.Glu333Gln) c.874G>C (p.Glu292Gln) | |
| 3 | g.81594019C>T | CA353685963 | GBE1 | c.997G>A (p.Glu333Lys) c.874G>A (p.Glu292Lys) | gnomAD v4 |
| 3 | g.81594021del | CA2666604936 | GBE1 | c.997del (p.Glu333LysfsTer3) c.874del (p.Glu292LysfsTer3) | gnomAD v4 |
| 3 | g.81594020C>A | CA353685964 | GBE1 | c.996G>T (p.Trp332Cys) c.873G>T (p.Trp291Cys) | gnomAD v4 |
| 3 | g.81594020C>G | CA353685965 | GBE1 | c.996G>C (p.Trp332Cys) c.873G>C (p.Trp291Cys) | gnomAD v4 |
| 3 | g.81594020C>T | CA353685966 | GBE1 | c.996G>A (p.Trp332Ter) c.873G>A (p.Trp291Ter) | gnomAD v4 |
| 3 | g.81594021C>A | CA353685967 | GBE1 | c.995G>T (p.Trp332Leu) c.872G>T (p.Trp291Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81594021C= | CA1378705285 | GBE1 | c.995G= (p.Trp332=) c.872G= (p.Trp291=) | |
| 3 | g.81594021C>G | CA353685968 | GBE1 | c.995G>C (p.Trp332Ser) c.872G>C (p.Trp291Ser) | gnomAD v4 |
| 3 | g.81594021C>T | CA353685969 | GBE1 | c.995G>A (p.Trp332Ter) c.872G>A (p.Trp291Ter) | gnomAD v4 |
| 3 | g.81594022A>C | CA353685970 | GBE1 | c.994T>G (p.Trp332Gly) c.871T>G (p.Trp291Gly) | ClinVar gnomAD v4 |
| 3 | g.81594022A>G | CA353685971 | GBE1 | c.994T>C (p.Trp332Arg) c.871T>C (p.Trp291Arg) | gnomAD v4 |
| 3 | g.81594022A>T | CA353685972 | GBE1 | c.994T>A (p.Trp332Arg) c.871T>A (p.Trp291Arg) | |
| 3 | g.81594023G>A | CA434493872 | GBE1 | c.993C>T (p.Ser331=) c.870C>T (p.Ser290=) | gnomAD v4 |
| 3 | g.81594023G>C | CA353685974 | GBE1 | c.993C>G (p.Ser331Arg) c.870C>G (p.Ser290Arg) | |
| 3 | g.81594023G>T | CA353685973 | GBE1 | c.993C>A (p.Ser331Arg) c.870C>A (p.Ser290Arg) | gnomAD v4 |
| 3 | g.81594024C>A | CA2499810 | GBE1 | c.993-1G>T (n.993-1G>T) c.870-1G>T (n.870-1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81594024C= | CA1378705286 | GBE1 | c.993-1G= (n.993-1G=) c.870-1G= (n.870-1G=) | |
| 3 | g.81594024C>G | CA353685976 | GBE1 | c.993-1G>C (n.993-1G>C) c.870-1G>C (n.870-1G>C) | |
| 3 | g.81594024C>T | CA353685975 | GBE1 | c.993-1G>A (n.993-1G>A) c.870-1G>A (n.870-1G>A) | gnomAD v4 |
| 3 | g.81594024dup | CA2695197942 | GBE1 | c.993-1dup (n.993-1dup) c.870-1dup (n.870-1dup) | ClinVar |