| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81705513C>A | CA353687749 | GBE1 | c.244G>T (p.Ala82Ser) c.121G>T (p.Ala41Ser) | gnomAD v4 |
| 3 | g.81705513C= | CA1378760121 | GBE1 | c.244G= (p.Ala82=) c.121G= (p.Ala41=) | |
| 3 | g.81705513C>G | CA353687750 | GBE1 | c.244G>C (p.Ala82Pro) c.121G>C (p.Ala41Pro) | |
| 3 | g.81705513C>T | CA353687751 | GBE1 | c.244G>A (p.Ala82Thr) c.121G>A (p.Ala41Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705514A>C | CA353687752 | GBE1 | c.243T>G (p.Cys81Trp) c.120T>G (p.Cys40Trp) | gnomAD v4 |
| 3 | g.81705514A>G | CA434495769 | GBE1 | c.243T>C (p.Cys81=) c.120T>C (p.Cys40=) | gnomAD v4 |
| 3 | g.81705514A>T | CA353687753 | GBE1 | c.243T>A (p.Cys81Ter) c.120T>A (p.Cys40Ter) | |
| 3 | g.81705515C>A | CA353687754 | GBE1 | c.242G>T (p.Cys81Phe) c.119G>T (p.Cys40Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705515C= | CA1378760127 | GBE1 | c.242G= (p.Cys81=) c.119G= (p.Cys40=) | |
| 3 | g.81705515C>G | CA353687755 | GBE1 | c.242G>C (p.Cys81Ser) c.119G>C (p.Cys40Ser) | |
| 3 | g.81705515C>T | CA353687756 | GBE1 | c.242G>A (p.Cys81Tyr) c.119G>A (p.Cys40Tyr) | gnomAD v4 |
| 3 | g.81705516A>C | CA353687757 | GBE1 | c.241T>G (p.Cys81Gly) c.118T>G (p.Cys40Gly) | |
| 3 | g.81705516A>G | CA353687758 | GBE1 | c.241T>C (p.Cys81Arg) c.118T>C (p.Cys40Arg) | |
| 3 | g.81705516A>T | CA353687759 | GBE1 | c.241T>A (p.Cys81Ser) c.118T>A (p.Cys40Ser) | gnomAD v4 |
| 3 | g.81705517T>A | CA353687760 | GBE1 | c.240A>T (p.Arg80Ser) c.117A>T (p.Arg39Ser) | |
| 3 | g.81705517T>C | CA434495783 | GBE1 | c.240A>G (p.Arg80=) c.117A>G (p.Arg39=) | |
| 3 | g.81705517T>G | CA353687761 | GBE1 | c.240A>C (p.Arg80Ser) c.117A>C (p.Arg39Ser) | |
| 3 | g.81705518C>A | CA353687762 | GBE1 | c.239G>T (p.Arg80Ile) c.116G>T (p.Arg39Ile) | gnomAD v4 |
| 3 | g.81705518C>G | CA353687763 | GBE1 | c.239G>C (p.Arg80Thr) c.116G>C (p.Arg39Thr) | |
| 3 | g.81705518C>T | CA353687764 | GBE1 | c.239G>A (p.Arg80Lys) c.116G>A (p.Arg39Lys) | |
| 3 | g.81705519T>A | CA353687765 | GBE1 | c.238A>T (p.Arg80Ter) c.115A>T (p.Arg39Ter) | |
| 3 | g.81705519T>C | CA353687766 | GBE1 | c.238A>G (p.Arg80Gly) c.115A>G (p.Arg39Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705519T>G | CA434495790 | GBE1 | c.238A>C (p.Arg80=) c.115A>C (p.Arg39=) | |
| 3 | g.81705519T= | CA1378760128 | GBE1 | c.238A= (p.Arg80=) c.115A= (p.Arg39=) | |
| 3 | g.81705520G>A | CA434495794 | GBE1 | c.237C>T (p.His79=) c.114C>T (p.His38=) | gnomAD v4 |
| 3 | g.81705520G>C | CA353687767 | GBE1 | c.237C>G (p.His79Gln) c.114C>G (p.His38Gln) | |
| 3 | g.81705520G= | CA1378760131 | GBE1 | c.237C= (p.His79=) c.114C= (p.His38=) | |
| 3 | g.81705520G>T | CA353687768 | GBE1 | c.237C>A (p.His79Gln) c.114C>A (p.His38Gln) | dbSNP gnomAD v4 |
| 3 | g.81705520dup | CA2666607791 | GBE1 | c.237dup (p.Arg80GlnfsTer4) c.114dup (p.Arg39GlnfsTer4) | gnomAD v4 |
| 3 | g.81705521T>A | CA353687769 | GBE1 | c.236A>T (p.His79Leu) c.113A>T (p.His38Leu) | |
| 3 | g.81705521T>C | CA353687770 | GBE1 | c.236A>G (p.His79Arg) c.113A>G (p.His38Arg) | gnomAD v4 |
| 3 | g.81705521T>G | CA353687771 | GBE1 | c.236A>C (p.His79Pro) c.113A>C (p.His38Pro) | |
| 3 | g.81705522G>A | CA353687772 | GBE1 | c.235C>T (p.His79Tyr) c.112C>T (p.His38Tyr) | dbSNP |
| 3 | g.81705522G>C | CA353687773 | GBE1 | c.235C>G (p.His79Asp) c.112C>G (p.His38Asp) | |
| 3 | g.81705522G= | CA1378760133 | GBE1 | c.235C= (p.His79=) c.112C= (p.His38=) | |
| 3 | g.81705522G>T | CA353687774 | GBE1 | c.235C>A (p.His79Asn) c.112C>A (p.His38Asn) | |
| 3 | g.81705523G>A | CA434495814 | GBE1 | c.234C>T (p.Val78=) c.111C>T (p.Val37=) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705523G>C | CA434495817 | GBE1 | c.234C>G (p.Val78=) c.111C>G (p.Val37=) | |
| 3 | g.81705523G>T | CA434495813 | GBE1 | c.234C>A (p.Val78=) c.111C>A (p.Val37=) | gnomAD v4 |
| 3 | g.81705524A>C | CA353687775 | GBE1 | c.233T>G (p.Val78Gly) c.110T>G (p.Val37Gly) | |
| 3 | g.81705524A>G | CA353687777 | GBE1 | c.233T>C (p.Val78Ala) c.110T>C (p.Val37Ala) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705524A>T | CA353687776 | GBE1 | c.233T>A (p.Val78Asp) c.110T>A (p.Val37Asp) | |
| 3 | g.81705525C>A | CA353687778 | GBE1 | c.232G>T (p.Val78Phe) c.109G>T (p.Val37Phe) | |
| 3 | g.81705525C= | CA1378760136 | GBE1 | c.232G= (p.Val78=) c.109G= (p.Val37=) | |
| 3 | g.81705525C>G | CA353687779 | GBE1 | c.232G>C (p.Val78Leu) c.109G>C (p.Val37Leu) | gnomAD v4 |
| 3 | g.81705525C>T | CA2500029 | GBE1 | c.232G>A (p.Val78Ile) c.109G>A (p.Val37Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81705526G>A | CA2500030 | GBE1 | c.231C>T (p.Gly77=) c.108C>T (p.Gly36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81705526G>C | CA434495828 | GBE1 | c.231C>G (p.Gly77=) c.108C>G (p.Gly36=) | |
| 3 | g.81705526G= | CA1378760143 | GBE1 | c.231C= (p.Gly77=) c.108C= (p.Gly36=) | |
| 3 | g.81705526G>T | CA434495829 | GBE1 | c.231C>A (p.Gly77=) c.108C>A (p.Gly36=) | |
| 3 | g.81705527C>A | CA353687780 | GBE1 | c.230G>T (p.Gly77Val) c.107G>T (p.Gly36Val) | |
| 3 | g.81705527C>G | CA353687781 | GBE1 | c.230G>C (p.Gly77Ala) c.107G>C (p.Gly36Ala) | |
| 3 | g.81705527C>T | CA353687782 | GBE1 | c.230G>A (p.Gly77Asp) c.107G>A (p.Gly36Asp) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705528C>A | CA353687783 | GBE1 | c.229G>T (p.Gly77Cys) c.106G>T (p.Gly36Cys) | gnomAD v4 |
| 3 | g.81705528C= | CA1378760148 | GBE1 | c.229G= (p.Gly77=) c.106G= (p.Gly36=) | |
| 3 | g.81705528C>G | CA353687784 | GBE1 | c.229G>C (p.Gly77Arg) c.106G>C (p.Gly36Arg) | |
| 3 | g.81705528C>T | CA353687785 | GBE1 | c.229G>A (p.Gly77Ser) c.106G>A (p.Gly36Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705529A>C | CA353687786 | GBE1 | c.228T>G (p.Phe76Leu) c.105T>G (p.Phe35Leu) | |
| 3 | g.81705529A>G | CA434495846 | GBE1 | c.228T>C (p.Phe76=) c.105T>C (p.Phe35=) | |
| 3 | g.81705529A>T | CA353687787 | GBE1 | c.228T>A (p.Phe76Leu) c.105T>A (p.Phe35Leu) | |
| 3 | g.81705530A= | CA1378760152 | GBE1 | c.227T= (p.Phe76=) c.104T= (p.Phe35=) | |
| 3 | g.81705530A>C | CA353687790 | GBE1 | c.227T>G (p.Phe76Cys) c.104T>G (p.Phe35Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705530A>G | CA353687789 | GBE1 | c.227T>C (p.Phe76Ser) c.104T>C (p.Phe35Ser) | ClinVar dbSNP |
| 3 | g.81705530A>T | CA353687788 | GBE1 | c.227T>A (p.Phe76Tyr) c.104T>A (p.Phe35Tyr) | |
| 3 | g.81705531A>C | CA353687791 | GBE1 | c.226T>G (p.Phe76Val) c.103T>G (p.Phe35Val) | |
| 3 | g.81705531A>G | CA353687792 | GBE1 | c.226T>C (p.Phe76Leu) c.103T>C (p.Phe35Leu) | |
| 3 | g.81705531A>T | CA353687793 | GBE1 | c.226T>A (p.Phe76Ile) c.103T>A (p.Phe35Ile) | |
| 3 | g.81705532T>A | CA434495863 | GBE1 | c.225A>T (p.Ser75=) c.102A>T (p.Ser34=) | |
| 3 | g.81705532T>C | CA434495865 | GBE1 | c.225A>G (p.Ser75=) c.102A>G (p.Ser34=) | |
| 3 | g.81705532T>G | CA434495866 | GBE1 | c.225A>C (p.Ser75=) c.102A>C (p.Ser34=) | |
| 3 | g.81705533G>A | CA353687794 | GBE1 | c.224C>T (p.Ser75Leu) c.101C>T (p.Ser34Leu) | gnomAD v4 |
| 3 | g.81705533G>C | CA353687795 | GBE1 | c.224C>G (p.Ser75Ter) c.101C>G (p.Ser34Ter) | |
| 3 | g.81705533G>T | CA353687796 | GBE1 | c.224C>A (p.Ser75Ter) c.101C>A (p.Ser34Ter) | |
| 3 | g.81705534A>C | CA353687797 | GBE1 | c.223T>G (p.Ser75Ala) c.100T>G (p.Ser34Ala) | |
| 3 | g.81705534A>G | CA353687798 | GBE1 | c.223T>C (p.Ser75Pro) c.100T>C (p.Ser34Pro) | |
| 3 | g.81705534A>T | CA353687799 | GBE1 | c.223T>A (p.Ser75Thr) c.100T>A (p.Ser34Thr) | |
| 3 | g.81705535T>A | CA353687800 | GBE1 | c.222A>T (p.Glu74Asp) c.99A>T (p.Glu33Asp) | |
| 3 | g.81705535T>C | CA78298513 | GBE1 | c.222A>G (p.Glu74=) c.99A>G (p.Glu33=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705535T>G | CA353687801 | GBE1 | c.222A>C (p.Glu74Asp) c.99A>C (p.Glu33Asp) | |
| 3 | g.81705535T= | CA1378760154 | GBE1 | c.222A= (p.Glu74=) c.99A= (p.Glu33=) | |
| 3 | g.81705536T>A | CA353687804 | GBE1 | c.221A>T (p.Glu74Val) c.98A>T (p.Glu33Val) | |
| 3 | g.81705536T>C | CA353687803 | GBE1 | c.221A>G (p.Glu74Gly) c.98A>G (p.Glu33Gly) | |
| 3 | g.81705536T>G | CA353687802 | GBE1 | c.221A>C (p.Glu74Ala) c.98A>C (p.Glu33Ala) | |
| 3 | g.81705536_81705537insA | CA913103218 | GBE1 | c.220_221insT (p.Glu74ValfsTer10) c.97_98insT (p.Glu33ValfsTer10) | |
| 3 | g.81705537C>A | CA353687805 | GBE1 | c.220G>T (p.Glu74Ter) c.97G>T (p.Glu33Ter) | gnomAD v4 |
| 3 | g.81705537C>G | CA353687807 | GBE1 | c.220G>C (p.Glu74Gln) c.97G>C (p.Glu33Gln) | |
| 3 | g.81705537C>T | CA353687806 | GBE1 | c.220G>A (p.Glu74Lys) c.97G>A (p.Glu33Lys) | |
| 3 | g.81705538A>C | CA353687808 | GBE1 | c.219T>G (p.Tyr73Ter) c.96T>G (p.Tyr32Ter) | |
| 3 | g.81705538A>G | CA434495891 | GBE1 | c.219T>C (p.Tyr73=) c.96T>C (p.Tyr32=) | |
| 3 | g.81705538A>T | CA353687809 | GBE1 | c.219T>A (p.Tyr73Ter) c.96T>A (p.Tyr32Ter) | |
| 3 | g.81705539T>A | CA353687810 | GBE1 | c.218A>T (p.Tyr73Phe) c.95A>T (p.Tyr32Phe) | |
| 3 | g.81705539T>C | CA353687811 | GBE1 | c.218A>G (p.Tyr73Cys) c.95A>G (p.Tyr32Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705539T>G | CA353687812 | GBE1 | c.218A>C (p.Tyr73Ser) c.95A>C (p.Tyr32Ser) | |
| 3 | g.81705539T= | CA1378760162 | GBE1 | c.218A= (p.Tyr73=) c.95A= (p.Tyr32=) | |
| 3 | g.81705540A>C | CA353687813 | GBE1 | c.217T>G (p.Tyr73Asp) c.94T>G (p.Tyr32Asp) | |
| 3 | g.81705540A>G | CA353687814 | GBE1 | c.217T>C (p.Tyr73His) c.94T>C (p.Tyr32His) | gnomAD v4 |
| 3 | g.81705540A>T | CA353687815 | GBE1 | c.217T>A (p.Tyr73Asn) c.94T>A (p.Tyr32Asn) | |
| 3 | g.81705540dup | CA2666607792 | GBE1 | c.217dup (p.Tyr73LeufsTer2) c.94dup (p.Tyr32LeufsTer2) | gnomAD v4 |
| 3 | g.81705541del | CA2499216989 | GBE1 | c.216del (p.Tyr73MetfsTer?) c.93del (p.Tyr32MetfsTer?) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705541G>A | CA2500031 | GBE1 | c.216C>T (p.Gly72=) c.93C>T (p.Gly31=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705541G>C | CA434495926 | GBE1 | c.216C>G (p.Gly72=) c.93C>G (p.Gly31=) | |
| 3 | g.81705541G= | CA1378760165 | GBE1 | c.216C= (p.Gly72=) c.93C= (p.Gly31=) | |
| 3 | g.81705541G>T | CA434495928 | GBE1 | c.216C>A (p.Gly72=) c.93C>A (p.Gly31=) | gnomAD v4 |
| 3 | g.81705542C>A | CA353687816 | GBE1 | c.215G>T (p.Gly72Val) c.92G>T (p.Gly31Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705542C= | CA1378760169 | GBE1 | c.215G= (p.Gly72=) c.92G= (p.Gly31=) | |
| 3 | g.81705542C>G | CA353687817 | GBE1 | c.215G>C (p.Gly72Ala) c.92G>C (p.Gly31Ala) | |
| 3 | g.81705542C>T | CA78298514 | GBE1 | c.215G>A (p.Gly72Asp) c.92G>A (p.Gly31Asp) | dbSNP gnomAD v4 |
| 3 | g.81705543C>A | CA353687818 | GBE1 | c.214G>T (p.Gly72Cys) c.91G>T (p.Gly31Cys) | |
| 3 | g.81705543C= | CA1378760171 | GBE1 | c.214G= (p.Gly72=) c.91G= (p.Gly31=) | |
| 3 | g.81705543C>G | CA353687819 | GBE1 | c.214G>C (p.Gly72Arg) c.91G>C (p.Gly31Arg) | |
| 3 | g.81705543C>T | CA78298515 | GBE1 | c.214G>A (p.Gly72Ser) c.91G>A (p.Gly31Ser) | dbSNP |
| 3 | g.81705544T>A | CA353687820 | GBE1 | c.213A>T (p.Arg71Ser) c.90A>T (p.Arg30Ser) | |
| 3 | g.81705544T>C | CA434495952 | GBE1 | c.213A>G (p.Arg71=) c.90A>G (p.Arg30=) | gnomAD v4 |
| 3 | g.81705544T>G | CA2500032 | GBE1 | c.213A>C (p.Arg71Ser) c.90A>C (p.Arg30Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705544T= | CA1378760175 | GBE1 | c.213A= (p.Arg71=) c.90A= (p.Arg30=) | |
| 3 | g.81705545C>A | CA353687821 | GBE1 | c.212G>T (p.Arg71Ile) c.89G>T (p.Arg30Ile) | gnomAD v4 |
| 3 | g.81705545C>G | CA353687822 | GBE1 | c.212G>C (p.Arg71Thr) c.89G>C (p.Arg30Thr) | |
| 3 | g.81705545C>T | CA353687823 | GBE1 | c.212G>A (p.Arg71Lys) c.89G>A (p.Arg30Lys) | |
| 3 | g.81705546T>A | CA353687824 | GBE1 | c.211A>T (p.Arg71Ter) c.88A>T (p.Arg30Ter) | gnomAD v4 |
| 3 | g.81705546T>C | CA353687825 | GBE1 | c.211A>G (p.Arg71Gly) c.88A>G (p.Arg30Gly) | |
| 3 | g.81705546T>G | CA434495961 | GBE1 | c.211A>C (p.Arg71=) c.88A>C (p.Arg30=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705546T= | CA1378760179 | GBE1 | c.211A= (p.Arg71=) c.88A= (p.Arg30=) | |
| 3 | g.81705547G>A | CA434495963 | GBE1 | c.210C>T (p.Ser70=) c.87C>T (p.Ser29=) | |
| 3 | g.81705547G>C | CA434495965 | GBE1 | c.210C>G (p.Ser70=) c.87C>G (p.Ser29=) | |
| 3 | g.81705547G>T | CA434495968 | GBE1 | c.210C>A (p.Ser70=) c.87C>A (p.Ser29=) | gnomAD v4 |
| 3 | g.81705548G>A | CA353687826 | GBE1 | c.209C>T (p.Ser70Phe) c.86C>T (p.Ser29Phe) | gnomAD v4 |
| 3 | g.81705548G>C | CA353687827 | GBE1 | c.209C>G (p.Ser70Cys) c.86C>G (p.Ser29Cys) | |
| 3 | g.81705548G>T | CA353687828 | GBE1 | c.209C>A (p.Ser70Tyr) c.86C>A (p.Ser29Tyr) | |
| 3 | g.81705549A= | CA1378760183 | GBE1 | c.208T= (p.Ser70=) c.85T= (p.Ser29=) | |
| 3 | g.81705549A>C | CA353687829 | GBE1 | c.208T>G (p.Ser70Ala) c.85T>G (p.Ser29Ala) | |
| 3 | g.81705549A>G | CA353687830 | GBE1 | c.208T>C (p.Ser70Pro) c.85T>C (p.Ser29Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705549A>T | CA353687831 | GBE1 | c.208T>A (p.Ser70Thr) c.85T>A (p.Ser29Thr) | |
| 3 | g.81705550A>C | CA353687832 | GBE1 | c.207T>G (p.Phe69Leu) c.84T>G (p.Phe28Leu) | |
| 3 | g.81705550A>G | CA434495985 | GBE1 | c.207T>C (p.Phe69=) c.84T>C (p.Phe28=) | |
| 3 | g.81705550A>T | CA353687833 | GBE1 | c.207T>A (p.Phe69Leu) c.84T>A (p.Phe28Leu) | |
| 3 | g.81705551A>C | CA353687834 | GBE1 | c.206T>G (p.Phe69Cys) c.83T>G (p.Phe28Cys) | COSMIC COSMIC |
| 3 | g.81705551A>G | CA353687835 | GBE1 | c.206T>C (p.Phe69Ser) c.83T>C (p.Phe28Ser) | |
| 3 | g.81705551A>T | CA353687836 | GBE1 | c.206T>A (p.Phe69Tyr) c.83T>A (p.Phe28Tyr) | |
| 3 | g.81705552A>C | CA353687837 | GBE1 | c.205T>G (p.Phe69Val) c.82T>G (p.Phe28Val) | |
| 3 | g.81705552A>G | CA353687838 | GBE1 | c.205T>C (p.Phe69Leu) c.82T>C (p.Phe28Leu) | |
| 3 | g.81705552A>T | CA353687839 | GBE1 | c.205T>A (p.Phe69Ile) c.82T>A (p.Phe28Ile) | |
| 3 | g.81705553C>A | CA353687840 | GBE1 | c.204G>T (p.Lys68Asn) c.81G>T (p.Lys27Asn) | gnomAD v4 |
| 3 | g.81705553C= | CA1378760187 | GBE1 | c.204G= (p.Lys68=) c.81G= (p.Lys27=) | |
| 3 | g.81705553C>G | CA353687841 | GBE1 | c.204G>C (p.Lys68Asn) c.81G>C (p.Lys27Asn) | |
| 3 | g.81705553C>T | CA434496014 | GBE1 | c.204G>A (p.Lys68=) c.81G>A (p.Lys27=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705553_81705555delinsCTT | CA1378760189 | GBE1 | c.202_204delinsAAG (p.Lys68=) c.79_81delinsAAG (p.Lys27=) | |
| 3 | g.81705554T>A | CA2500033 | GBE1 | c.203A>T (p.Lys68Met) c.80A>T (p.Lys27Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705554T>C | CA353687842 | GBE1 | c.203A>G (p.Lys68Arg) c.80A>G (p.Lys27Arg) | gnomAD v4 |
| 3 | g.81705554T>G | CA353687843 | GBE1 | c.203A>C (p.Lys68Thr) c.80A>C (p.Lys27Thr) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705554T= | CA1378760194 | GBE1 | c.203A= (p.Lys68=) c.80A= (p.Lys27=) | |
| 3 | g.81705554_81705555del | CA916082583 | GBE1 | c.202_203del (p.Lys68ValfsTer6) c.79_80del (p.Lys27ValfsTer6) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705555T>A | CA353687846 | GBE1 | c.202A>T (p.Lys68Ter) c.79A>T (p.Lys27Ter) | |
| 3 | g.81705555T>C | CA353687845 | GBE1 | c.202A>G (p.Lys68Glu) c.79A>G (p.Lys27Glu) | |
| 3 | g.81705555T>G | CA353687844 | GBE1 | c.202A>C (p.Lys68Gln) c.79A>C (p.Lys27Gln) | |
| 3 | g.81705556A>C | CA353687847 | GBE1 | c.201T>G (p.Asp67Glu) c.78T>G (p.Asp26Glu) | |
| 3 | g.81705556A>G | CA434496032 | GBE1 | c.201T>C (p.Asp67=) c.78T>C (p.Asp26=) | |
| 3 | g.81705556A>T | CA353687848 | GBE1 | c.201T>A (p.Asp67Glu) c.78T>A (p.Asp26Glu) | |
| 3 | g.81705557T>A | CA2500034 | GBE1 | c.200A>T (p.Asp67Val) c.77A>T (p.Asp26Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.81705557T>C | CA2500035 | GBE1 | c.200A>G (p.Asp67Gly) c.77A>G (p.Asp26Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705557T>G | CA353687849 | GBE1 | c.200A>C (p.Asp67Ala) c.77A>C (p.Asp26Ala) | |
| 3 | g.81705557T= | CA1378760202 | GBE1 | c.200A= (p.Asp67=) c.77A= (p.Asp26=) | |
| 3 | g.81705558C>A | CA353687850 | GBE1 | c.199G>T (p.Asp67Tyr) c.76G>T (p.Asp26Tyr) | gnomAD v4 |
| 3 | g.81705558C>G | CA353687851 | GBE1 | c.199G>C (p.Asp67His) c.76G>C (p.Asp26His) | |
| 3 | g.81705558C>T | CA353687852 | GBE1 | c.199G>A (p.Asp67Asn) c.76G>A (p.Asp26Asn) | |
| 3 | g.81705559A= | CA1378760206 | GBE1 | c.198T= (p.Ile66=) c.75T= (p.Ile25=) | |
| 3 | g.81705559A>C | CA353687853 | GBE1 | c.198T>G (p.Ile66Met) c.75T>G (p.Ile25Met) | |
| 3 | g.81705559A>G | CA434496052 | GBE1 | c.198T>C (p.Ile66=) c.75T>C (p.Ile25=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705559A>T | CA434496055 | GBE1 | c.198T>A (p.Ile66=) c.75T>A (p.Ile25=) | |
| 3 | g.81705560A>C | CA353687854 | GBE1 | c.197T>G (p.Ile66Ser) c.74T>G (p.Ile25Ser) | |
| 3 | g.81705560A>G | CA353687855 | GBE1 | c.197T>C (p.Ile66Thr) c.74T>C (p.Ile25Thr) | gnomAD v4 |
| 3 | g.81705560A>T | CA353687856 | GBE1 | c.197T>A (p.Ile66Asn) c.74T>A (p.Ile25Asn) | |
| 3 | g.81705561T>A | CA2500036 | GBE1 | c.196A>T (p.Ile66Phe) c.73A>T (p.Ile25Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705561T>C | CA2500037 | GBE1 | c.196A>G (p.Ile66Val) c.73A>G (p.Ile25Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705561T>G | CA353687857 | GBE1 | c.196A>C (p.Ile66Leu) c.73A>C (p.Ile25Leu) | |
| 3 | g.81705561T= | CA1378760210 | GBE1 | c.196A= (p.Ile66=) c.73A= (p.Ile25=) | |
| 3 | g.81705562A= | CA1378760216 | GBE1 | c.195T= (p.Gly65=) c.72T= (p.Gly24=) | |
| 3 | g.81705562A>C | CA434496067 | GBE1 | c.195T>G (p.Gly65=) c.72T>G (p.Gly24=) | |
| 3 | g.81705562A>G | CA434496073 | GBE1 | c.195T>C (p.Gly65=) c.72T>C (p.Gly24=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705562A>T | CA434496070 | GBE1 | c.195T>A (p.Gly65=) c.72T>A (p.Gly24=) | |
| 3 | g.81705563C>A | CA353687860 | GBE1 | c.194G>T (p.Gly65Val) c.71G>T (p.Gly24Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705563C= | CA1378760219 | GBE1 | c.194G= (p.Gly65=) c.71G= (p.Gly24=) | |
| 3 | g.81705563C>G | CA353687858 | GBE1 | c.194G>C (p.Gly65Ala) c.71G>C (p.Gly24Ala) | |
| 3 | g.81705563C>T | CA353687859 | GBE1 | c.194G>A (p.Gly65Asp) c.71G>A (p.Gly24Asp) | gnomAD v4 |
| 3 | g.81705564C>A | CA353687861 | GBE1 | c.193G>T (p.Gly65Cys) c.70G>T (p.Gly24Cys) | |
| 3 | g.81705564C= | CA1378760222 | GBE1 | c.193G= (p.Gly65=) c.70G= (p.Gly24=) | |
| 3 | g.81705564C>G | CA353687862 | GBE1 | c.193G>C (p.Gly65Arg) c.70G>C (p.Gly24Arg) | |
| 3 | g.81705564C>T | CA2500038 | GBE1 | c.193G>A (p.Gly65Ser) c.70G>A (p.Gly24Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705565A>C | CA434496092 | GBE1 | c.192T>G (p.Gly64=) c.69T>G (p.Gly23=) | |
| 3 | g.81705565A>G | CA434496094 | GBE1 | c.192T>C (p.Gly64=) c.69T>C (p.Gly23=) | |
| 3 | g.81705565A>T | CA434496096 | GBE1 | c.192T>A (p.Gly64=) c.69T>A (p.Gly23=) | |
| 3 | g.81705566C>A | CA353687863 | GBE1 | c.191G>T (p.Gly64Val) c.68G>T (p.Gly23Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705566C= | CA1378760224 | GBE1 | c.191G= (p.Gly64=) c.68G= (p.Gly23=) | |
| 3 | g.81705566C>G | CA353687864 | GBE1 | c.191G>C (p.Gly64Ala) c.68G>C (p.Gly23Ala) | |
| 3 | g.81705566C>T | CA353687865 | GBE1 | c.191G>A (p.Gly64Asp) c.68G>A (p.Gly23Asp) | |
| 3 | g.81705567C>A | CA353687866 | GBE1 | c.190G>T (p.Gly64Cys) c.67G>T (p.Gly23Cys) | gnomAD v4 |
| 3 | g.81705567C>G | CA353687867 | GBE1 | c.190G>C (p.Gly64Arg) c.67G>C (p.Gly23Arg) | |
| 3 | g.81705567C>T | CA353687868 | GBE1 | c.190G>A (p.Gly64Ser) c.67G>A (p.Gly23Ser) | |
| 3 | g.81705568T>A | CA353687869 | GBE1 | c.189A>T (p.Glu63Asp) c.66A>T (p.Glu22Asp) | |
| 3 | g.81705568T>C | CA434496123 | GBE1 | c.189A>G (p.Glu63=) c.66A>G (p.Glu22=) | |
| 3 | g.81705568T>G | CA353687870 | GBE1 | c.189A>C (p.Glu63Asp) c.66A>C (p.Glu22Asp) | |
| 3 | g.81705569del | CA2666607793 | GBE1 | c.189del (p.Gly64ValfsTer?) c.66del (p.Gly23ValfsTer?) | gnomAD v4 |
| 3 | g.81705569T>A | CA353687873 | GBE1 | c.188A>T (p.Glu63Val) c.65A>T (p.Glu22Val) | |
| 3 | g.81705569T>C | CA353687871 | GBE1 | c.188A>G (p.Glu63Gly) c.65A>G (p.Glu22Gly) | |
| 3 | g.81705569T>G | CA353687872 | GBE1 | c.188A>C (p.Glu63Ala) c.65A>C (p.Glu22Ala) | |
| 3 | g.81705570C>A | CA353687874 | GBE1 | c.187G>T (p.Glu63Ter) c.64G>T (p.Glu22Ter) | gnomAD v4 |
| 3 | g.81705570C>G | CA353687875 | GBE1 | c.187G>C (p.Glu63Gln) c.64G>C (p.Glu22Gln) | |
| 3 | g.81705570C>T | CA353687876 | GBE1 | c.187G>A (p.Glu63Lys) c.64G>A (p.Glu22Lys) | gnomAD v4 |
| 3 | g.81705571A= | CA1378760227 | GBE1 | c.186T= (p.Asn62=) c.63T= (p.Asn21=) | |
| 3 | g.81705571A>C | CA353687877 | GBE1 | c.186T>G (p.Asn62Lys) c.63T>G (p.Asn21Lys) | |
| 3 | g.81705571A>G | CA78298516 | GBE1 | c.186T>C (p.Asn62=) c.63T>C (p.Asn21=) | dbSNP gnomAD v4 |
| 3 | g.81705571A>T | CA353687878 | GBE1 | c.186T>A (p.Asn62Lys) c.63T>A (p.Asn21Lys) | |
| 3 | g.81705572T>A | CA353687879 | GBE1 | c.185A>T (p.Asn62Ile) c.62A>T (p.Asn21Ile) | |
| 3 | g.81705572T>C | CA353687880 | GBE1 | c.185A>G (p.Asn62Ser) c.62A>G (p.Asn21Ser) | |
| 3 | g.81705572T>G | CA353687881 | GBE1 | c.185A>C (p.Asn62Thr) c.62A>C (p.Asn21Thr) | |
| 3 | g.81705575del | CA2666607794 | GBE1 | c.185del (p.Asn62MetfsTer?) c.62del (p.Asn21MetfsTer?) | gnomAD v4 |
| 3 | g.81705573T>A | CA353687882 | GBE1 | c.184A>T (p.Asn62Tyr) c.61A>T (p.Asn21Tyr) | |
| 3 | g.81705573T>C | CA353687883 | GBE1 | c.184A>G (p.Asn62Asp) c.61A>G (p.Asn21Asp) | |
| 3 | g.81705573T>G | CA353687884 | GBE1 | c.184A>C (p.Asn62His) c.61A>C (p.Asn21His) | |
| 3 | g.81705574T>A | CA353687886 | GBE1 | c.183A>T (p.Glu61Asp) c.60A>T (p.Glu20Asp) | |
| 3 | g.81705574T>C | CA434496164 | GBE1 | c.183A>G (p.Glu61=) c.60A>G (p.Glu20=) | |
| 3 | g.81705574T>G | CA353687885 | GBE1 | c.183A>C (p.Glu61Asp) c.60A>C (p.Glu20Asp) | |
| 3 | g.81705575T>A | CA353687887 | GBE1 | c.182A>T (p.Glu61Val) c.59A>T (p.Glu20Val) | |
| 3 | g.81705575T>C | CA353687889 | GBE1 | c.182A>G (p.Glu61Gly) c.59A>G (p.Glu20Gly) | |
| 3 | g.81705575T>G | CA353687888 | GBE1 | c.182A>C (p.Glu61Ala) c.59A>C (p.Glu20Ala) | |
| 3 | g.81705576C>A | CA353687890 | GBE1 | c.181G>T (p.Glu61Ter) c.58G>T (p.Glu20Ter) | gnomAD v4 |
| 3 | g.81705576C= | CA1378760230 | GBE1 | c.181G= (p.Glu61=) c.58G= (p.Glu20=) | |
| 3 | g.81705576C>G | CA353687891 | GBE1 | c.181G>C (p.Glu61Gln) c.58G>C (p.Glu20Gln) | gnomAD v4 |
| 3 | g.81705576C>T | CA2500039 | GBE1 | c.181G>A (p.Glu61Lys) c.58G>A (p.Glu20Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.81705577T>A | CA434496183 | GBE1 | c.180A>T (p.Gly60=) c.57A>T (p.Gly19=) | |
| 3 | g.81705577T>C | CA434496185 | GBE1 | c.180A>G (p.Gly60=) c.57A>G (p.Gly19=) | gnomAD v4 |
| 3 | g.81705577T>G | CA2500040 | GBE1 | c.180A>C (p.Gly60=) c.57A>C (p.Gly19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705577T= | CA1378760234 | GBE1 | c.180A= (p.Gly60=) c.57A= (p.Gly19=) | |
| 3 | g.81705578C>A | CA353687892 | GBE1 | c.179G>T (p.Gly60Val) c.56G>T (p.Gly19Val) | gnomAD v4 |
| 3 | g.81705578C>G | CA353687893 | GBE1 | c.179G>C (p.Gly60Ala) c.56G>C (p.Gly19Ala) | |
| 3 | g.81705578C>T | CA353687894 | GBE1 | c.179G>A (p.Gly60Glu) c.56G>A (p.Gly19Glu) | |
| 3 | g.81705579C>A | CA353687895 | GBE1 | c.178G>T (p.Gly60Ter) c.55G>T (p.Gly19Ter) | gnomAD v4 |
| 3 | g.81705579C>G | CA353687896 | GBE1 | c.178G>C (p.Gly60Arg) c.55G>C (p.Gly19Arg) | |
| 3 | g.81705579C>T | CA353687897 | GBE1 | c.178G>A (p.Gly60Arg) c.55G>A (p.Gly19Arg) | gnomAD v4 |
| 3 | g.81705580A>C | CA353687898 | GBE1 | c.177T>G (p.Ile59Met) c.54T>G (p.Ile18Met) | |
| 3 | g.81705580A>G | CA434496202 | GBE1 | c.177T>C (p.Ile59=) c.54T>C (p.Ile18=) | |
| 3 | g.81705580A>T | CA434496206 | GBE1 | c.177T>A (p.Ile59=) c.54T>A (p.Ile18=) | |
| 3 | g.81705581A= | CA1378760239 | GBE1 | c.176T= (p.Ile59=) c.53T= (p.Ile18=) | |
| 3 | g.81705581A>C | CA353687900 | GBE1 | c.176T>G (p.Ile59Ser) c.53T>G (p.Ile18Ser) | |
| 3 | g.81705581A>G | CA2500041 | GBE1 | c.176T>C (p.Ile59Thr) c.53T>C (p.Ile18Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705581A>T | CA353687899 | GBE1 | c.176T>A (p.Ile59Asn) c.53T>A (p.Ile18Asn) | |
| 3 | g.81705582T>A | CA353687901 | GBE1 | c.175A>T (p.Ile59Phe) c.52A>T (p.Ile18Phe) | |
| 3 | g.81705582T>C | CA2500042 | GBE1 | c.175A>G (p.Ile59Val) c.52A>G (p.Ile18Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705582T>G | CA353687902 | GBE1 | c.175A>C (p.Ile59Leu) c.52A>C (p.Ile18Leu) | |
| 3 | g.81705582T= | CA1378760250 | GBE1 | c.175A= (p.Ile59=) c.52A= (p.Ile18=) | |
| 3 | g.81705583G>A | CA434496222 | GBE1 | c.174C>T (p.Asn58=) c.51C>T (p.Asn17=) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705583G>C | CA353687903 | GBE1 | c.174C>G (p.Asn58Lys) c.51C>G (p.Asn17Lys) | gnomAD v4 |
| 3 | g.81705583G>T | CA353687904 | GBE1 | c.174C>A (p.Asn58Lys) c.51C>A (p.Asn17Lys) | gnomAD v4 |
| 3 | g.81705584T>A | CA353687905 | GBE1 | c.173A>T (p.Asn58Ile) c.50A>T (p.Asn17Ile) | |
| 3 | g.81705584T>C | CA2500043 | GBE1 | c.173A>G (p.Asn58Ser) c.50A>G (p.Asn17Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705584T>G | CA353687906 | GBE1 | c.173A>C (p.Asn58Thr) c.50A>C (p.Asn17Thr) | |
| 3 | g.81705584T= | CA1378760257 | GBE1 | c.173A= (p.Asn58=) c.50A= (p.Asn17=) | |
| 3 | g.81705584_81705585del | CA2740094516 | GBE1 | c.172_173del (p.Asn58HisfsTer5) c.49_50del (p.Asn17HisfsTer5) | ClinVar |
| 3 | g.81705585T>A | CA353687907 | GBE1 | c.172A>T (p.Asn58Tyr) c.49A>T (p.Asn17Tyr) | |
| 3 | g.81705585T>C | CA353687908 | GBE1 | c.172A>G (p.Asn58Asp) c.49A>G (p.Asn17Asp) | gnomAD v4 |
| 3 | g.81705585T>G | CA353687909 | GBE1 | c.172A>C (p.Asn58His) c.49A>C (p.Asn17His) | |
| 3 | g.81705586C>A | CA353687910 | GBE1 | c.171G>T (p.Lys57Asn) c.48G>T (p.Lys16Asn) | gnomAD v4 |
| 3 | g.81705586C>G | CA353687911 | GBE1 | c.171G>C (p.Lys57Asn) c.48G>C (p.Lys16Asn) | |
| 3 | g.81705586C>T | CA434496244 | GBE1 | c.171G>A (p.Lys57=) c.48G>A (p.Lys16=) | gnomAD v4 |
| 3 | g.81705587T>A | CA353687913 | GBE1 | c.170A>T (p.Lys57Met) c.47A>T (p.Lys16Met) | gnomAD v4 |
| 3 | g.81705587T>C | CA241296 | GBE1 | c.170A>G (p.Lys57Arg) c.47A>G (p.Lys16Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705587T>G | CA353687912 | GBE1 | c.170A>C (p.Lys57Thr) c.47A>C (p.Lys16Thr) | |
| 3 | g.81705587T= | CA1378760262 | GBE1 | c.170A= (p.Lys57=) c.47A= (p.Lys16=) | |
| 3 | g.81705588T>A | CA353687914 | GBE1 | c.169A>T (p.Lys57Ter) c.46A>T (p.Lys16Ter) | ClinVar gnomAD v4 |
| 3 | g.81705588T>C | CA2500044 | GBE1 | c.169A>G (p.Lys57Glu) c.46A>G (p.Lys16Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705588T>G | CA353687915 | GBE1 | c.169A>C (p.Lys57Gln) c.46A>C (p.Lys16Gln) | |
| 3 | g.81705588T= | CA1378760268 | GBE1 | c.169A= (p.Lys57=) c.46A= (p.Lys16=) | |
| 3 | g.81705589C>A | CA353687916 | GBE1 | c.168G>T (p.Leu56Phe) c.45G>T (p.Leu15Phe) | gnomAD v4 |
| 3 | g.81705589C>G | CA353687917 | GBE1 | c.168G>C (p.Leu56Phe) c.45G>C (p.Leu15Phe) | |
| 3 | g.81705589C>T | CA434496269 | GBE1 | c.168G>A (p.Leu56=) c.45G>A (p.Leu15=) | gnomAD v4 |
| 3 | g.81705590A>C | CA353687918 | GBE1 | c.167T>G (p.Leu56Trp) c.44T>G (p.Leu15Trp) | gnomAD v4 |
| 3 | g.81705590A>G | CA353687919 | GBE1 | c.167T>C (p.Leu56Ser) c.44T>C (p.Leu15Ser) | |
| 3 | g.81705590A>T | CA353687920 | GBE1 | c.167T>A (p.Leu56Ter) c.44T>A (p.Leu15Ter) | |
| 3 | g.81705593del | CA2580070451 | GBE1 | c.167del (p.Leu56Ter) c.44del (p.Leu15Ter) | ClinVar gnomAD v4 |
| 3 | g.81705591A= | CA1378760273 | GBE1 | c.166T= (p.Leu56=) c.43T= (p.Leu15=) | |
| 3 | g.81705591A>C | CA353687921 | GBE1 | c.166T>G (p.Leu56Val) c.43T>G (p.Leu15Val) | |
| 3 | g.81705591A>G | CA434496281 | GBE1 | c.166T>C (p.Leu56=) c.43T>C (p.Leu15=) | ClinVar |
| 3 | g.81705591A>T | CA353687922 | GBE1 | c.166T>A (p.Leu56Met) c.43T>A (p.Leu15Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705592A>C | CA353687923 | GBE1 | c.165T>G (p.Ile55Met) c.42T>G (p.Ile14Met) | |
| 3 | g.81705592A>G | CA434496290 | GBE1 | c.165T>C (p.Ile55=) c.42T>C (p.Ile14=) | |
| 3 | g.81705592A>T | CA434496287 | GBE1 | c.165T>A (p.Ile55=) c.42T>A (p.Ile14=) | |
| 3 | g.81705593A>C | CA353687926 | GBE1 | c.164T>G (p.Ile55Ser) c.41T>G (p.Ile14Ser) | |
| 3 | g.81705593A>G | CA353687924 | GBE1 | c.164T>C (p.Ile55Thr) c.41T>C (p.Ile14Thr) | |
| 3 | g.81705593A>T | CA353687925 | GBE1 | c.164T>A (p.Ile55Asn) c.41T>A (p.Ile14Asn) | |
| 3 | g.81705594T>A | CA353687927 | GBE1 | c.163A>T (p.Ile55Phe) c.40A>T (p.Ile14Phe) | |
| 3 | g.81705594T>C | CA353687928 | GBE1 | c.163A>G (p.Ile55Val) c.40A>G (p.Ile14Val) | |
| 3 | g.81705594T>G | CA353687929 | GBE1 | c.163A>C (p.Ile55Leu) c.40A>C (p.Ile14Leu) | |
| 3 | g.81705595T>A | CA353687930 | GBE1 | c.162A>T (p.Gln54His) c.39A>T (p.Gln13His) | |
| 3 | g.81705595T>C | CA434496312 | GBE1 | c.162A>G (p.Gln54=) c.39A>G (p.Gln13=) | |
| 3 | g.81705595T>G | CA353687931 | GBE1 | c.162A>C (p.Gln54His) c.39A>C (p.Gln13His) | ClinVar |
| 3 | g.81705596T>A | CA353687932 | GBE1 | c.161A>T (p.Gln54Leu) c.38A>T (p.Gln13Leu) | |
| 3 | g.81705596T>C | CA353687934 | GBE1 | c.161A>G (p.Gln54Arg) c.38A>G (p.Gln13Arg) | |
| 3 | g.81705596T>G | CA353687933 | GBE1 | c.161A>C (p.Gln54Pro) c.38A>C (p.Gln13Pro) | |
| 3 | g.81705597G>A | CA353687935 | GBE1 | c.160C>T (p.Gln54Ter) c.37C>T (p.Gln13Ter) | |
| 3 | g.81705597G>C | CA353687936 | GBE1 | c.160C>G (p.Gln54Glu) c.37C>G (p.Gln13Glu) | |
| 3 | g.81705597G>T | CA353687937 | GBE1 | c.160C>A (p.Gln54Lys) c.37C>A (p.Gln13Lys) | |
| 3 | g.81705598G>A | CA434496333 | GBE1 | c.159C>T (p.Ser53=) c.36C>T (p.Ser12=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705598G>C | CA353687938 | GBE1 | c.159C>G (p.Ser53Arg) c.36C>G (p.Ser12Arg) | |
| 3 | g.81705598G= | CA1378760274 | GBE1 | c.159C= (p.Ser53=) c.36C= (p.Ser12=) | |
| 3 | g.81705598G>T | CA353687939 | GBE1 | c.159C>A (p.Ser53Arg) c.36C>A (p.Ser12Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705599C>A | CA353687940 | GBE1 | c.158G>T (p.Ser53Ile) c.35G>T (p.Ser12Ile) | gnomAD v4 |
| 3 | g.81705599C>G | CA353687941 | GBE1 | c.158G>C (p.Ser53Thr) c.35G>C (p.Ser12Thr) | |
| 3 | g.81705599C>T | CA353687942 | GBE1 | c.158G>A (p.Ser53Asn) c.35G>A (p.Ser12Asn) | |
| 3 | g.81705600T>A | CA353687943 | GBE1 | c.157A>T (p.Ser53Cys) c.34A>T (p.Ser12Cys) | |
| 3 | g.81705600T>C | CA353687944 | GBE1 | c.157A>G (p.Ser53Gly) c.34A>G (p.Ser12Gly) | gnomAD v4 |
| 3 | g.81705600T>G | CA353687945 | GBE1 | c.157A>C (p.Ser53Arg) c.34A>C (p.Ser12Arg) | |
| 3 | g.81705601A>C | CA353687946 | GBE1 | c.156T>G (p.Phe52Leu) c.33T>G (p.Phe11Leu) | |
| 3 | g.81705601A>G | CA434496359 | GBE1 | c.156T>C (p.Phe52=) c.33T>C (p.Phe11=) | gnomAD v4 |
| 3 | g.81705601A>T | CA353687947 | GBE1 | c.156T>A (p.Phe52Leu) c.33T>A (p.Phe11Leu) | |
| 3 | g.81705602A>C | CA353687948 | GBE1 | c.155T>G (p.Phe52Cys) c.32T>G (p.Phe11Cys) | |
| 3 | g.81705602A>G | CA353687949 | GBE1 | c.155T>C (p.Phe52Ser) c.32T>C (p.Phe11Ser) | |
| 3 | g.81705602A>T | CA353687950 | GBE1 | c.155T>A (p.Phe52Tyr) c.32T>A (p.Phe11Tyr) | |
| 3 | g.81705603A>C | CA353687951 | GBE1 | c.154T>G (p.Phe52Val) c.31T>G (p.Phe11Val) | |
| 3 | g.81705603A>G | CA353687952 | GBE1 | c.154T>C (p.Phe52Leu) c.31T>C (p.Phe11Leu) | |
| 3 | g.81705603A>T | CA353687953 | GBE1 | c.154T>A (p.Phe52Ile) c.31T>A (p.Phe11Ile) | gnomAD v4 |
| 3 | g.81705604C>A | CA353687954 | GBE1 | c.153G>T (p.Gln51His) c.30G>T (p.Gln10His) | gnomAD v4 |
| 3 | g.81705604C= | CA1378760275 | GBE1 | c.153G= (p.Gln51=) c.30G= (p.Gln10=) | |
| 3 | g.81705604C>G | CA2500045 | GBE1 | c.153G>C (p.Gln51His) c.30G>C (p.Gln10His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705604C>T | CA434496381 | GBE1 | c.153G>A (p.Gln51=) c.30G>A (p.Gln10=) | ClinVar |
| 3 | g.81705605T>A | CA353687955 | GBE1 | c.152A>T (p.Gln51Leu) c.29A>T (p.Gln10Leu) | |
| 3 | g.81705605T>C | CA353687956 | GBE1 | c.152A>G (p.Gln51Arg) c.29A>G (p.Gln10Arg) | gnomAD v4 |
| 3 | g.81705605T>G | CA353687957 | GBE1 | c.152A>C (p.Gln51Pro) c.29A>C (p.Gln10Pro) | |
| 3 | g.81705606G>A | CA353687958 | GBE1 | c.151C>T (p.Gln51Ter) c.28C>T (p.Gln10Ter) | gnomAD v4 |
| 3 | g.81705606G>C | CA353687959 | GBE1 | c.151C>G (p.Gln51Glu) c.28C>G (p.Gln10Glu) | gnomAD v4 |
| 3 | g.81705606G= | CA1378760276 | GBE1 | c.151C= (p.Gln51=) c.28C= (p.Gln10=) | |
| 3 | g.81705606G>T | CA353687960 | GBE1 | c.151C>A (p.Gln51Lys) c.28C>A (p.Gln10Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705607C>A | CA353687961 | GBE1 | c.150G>T (p.Lys50Asn) c.27G>T (p.Lys9Asn) | gnomAD v4 |
| 3 | g.81705607C>G | CA353687962 | GBE1 | c.150G>C (p.Lys50Asn) c.27G>C (p.Lys9Asn) | |
| 3 | g.81705607C>T | CA434496402 | GBE1 | c.150G>A (p.Lys50=) c.27G>A (p.Lys9=) | gnomAD v4 |
| 3 | g.81705608T>A | CA353687963 | GBE1 | c.149A>T (p.Lys50Met) c.26A>T (p.Lys9Met) | gnomAD v4 |
| 3 | g.81705608T>C | CA353687964 | GBE1 | c.149A>G (p.Lys50Arg) c.26A>G (p.Lys9Arg) | |
| 3 | g.81705608T>G | CA353687965 | GBE1 | c.149A>C (p.Lys50Thr) c.26A>C (p.Lys9Thr) | |
| 3 | g.81705609del | CA2573137468 | GBE1 | c.149del (p.Lys50SerfsTer7) c.26del (p.Lys9SerfsTer7) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705609T>A | CA353687966 | GBE1 | c.148A>T (p.Lys50Ter) c.25A>T (p.Lys9Ter) | gnomAD v4 |
| 3 | g.81705609T>C | CA353687967 | GBE1 | c.148A>G (p.Lys50Glu) c.25A>G (p.Lys9Glu) | gnomAD v4 |
| 3 | g.81705609T>G | CA353687968 | GBE1 | c.148A>C (p.Lys50Gln) c.25A>C (p.Lys9Gln) | |
| 3 | g.81705610A>C | CA353687969 | GBE1 | c.147T>G (p.Tyr49Ter) c.24T>G (p.Tyr8Ter) | |
| 3 | g.81705610A>G | CA434496425 | GBE1 | c.147T>C (p.Tyr49=) c.24T>C (p.Tyr8=) | gnomAD v4 |
| 3 | g.81705610A>T | CA353687972 | GBE1 | c.147T>A (p.Tyr49Ter) c.24T>A (p.Tyr8Ter) | |
| 3 | g.81705611T>A | CA353687973 | GBE1 | c.146A>T (p.Tyr49Phe) c.23A>T (p.Tyr8Phe) | gnomAD v4 |
| 3 | g.81705611T>C | CA2500046 | GBE1 | c.146A>G (p.Tyr49Cys) c.23A>G (p.Tyr8Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705611T>G | CA353687974 | GBE1 | c.146A>C (p.Tyr49Ser) c.23A>C (p.Tyr8Ser) | |
| 3 | g.81705611T= | CA1378760277 | GBE1 | c.146A= (p.Tyr49=) c.23A= (p.Tyr8=) | |
| 3 | g.81705611_81705612insTCTTCA | CA1378760278 | GBE1 | c.145_146insTGAAGA (p.Tyr49delinsLeuLysAsn) c.22_23insTGAAGA (p.Tyr8delinsLeuLysAsn) | dbSNP |
| 3 | g.81705612A>C | CA353687977 | GBE1 | c.145T>G (p.Tyr49Asp) c.22T>G (p.Tyr8Asp) | |
| 3 | g.81705612A>G | CA353687976 | GBE1 | c.145T>C (p.Tyr49His) c.22T>C (p.Tyr8His) | |
| 3 | g.81705612A>T | CA353687975 | GBE1 | c.145T>A (p.Tyr49Asn) c.22T>A (p.Tyr8Asn) | gnomAD v3 gnomAD v4 |
| 3 | g.81705613C>A | CA353687978 | GBE1 | c.144G>T (p.Arg48Ser) c.21G>T (p.Arg7Ser) | dbSNP gnomAD v4 |
| 3 | g.81705613C= | CA1378760279 | GBE1 | c.144G= (p.Arg48=) c.21G= (p.Arg7=) | |
| 3 | g.81705613C>G | CA353687979 | GBE1 | c.144G>C (p.Arg48Ser) c.21G>C (p.Arg7Ser) | |
| 3 | g.81705613C>T | CA434496445 | GBE1 | c.144G>A (p.Arg48=) c.21G>A (p.Arg7=) | gnomAD v4 |