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.81705470_81705472del | CA645517399 | GBE1 | c.287_289del (p.Glu96del) c.164_166del (p.Glu55del) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705470del | CA16040929 | GBE1 | c.288del (p.Gly97GlufsTer?) c.165del (p.Gly56GlufsTer?) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705470T>A | CA353687654 | GBE1 | c.287A>T (p.Glu96Val) c.164A>T (p.Glu55Val) | |
| 3 | g.81705470T>C | CA353687655 | GBE1 | c.287A>G (p.Glu96Gly) c.164A>G (p.Glu55Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705470T>G | CA353687656 | GBE1 | c.287A>C (p.Glu96Ala) c.164A>C (p.Glu55Ala) | |
| 3 | g.81705470T= | CA1378760068 | GBE1 | c.287A= (p.Glu96=) c.164A= (p.Glu55=) | |
| 3 | g.81705471C>A | CA353687657 | GBE1 | c.286G>T (p.Glu96Ter) c.163G>T (p.Glu55Ter) | gnomAD v4 |
| 3 | g.81705471C= | CA1378760069 | GBE1 | c.286G= (p.Glu96=) c.163G= (p.Glu55=) | |
| 3 | g.81705471C>G | CA353687658 | GBE1 | c.286G>C (p.Glu96Gln) c.163G>C (p.Glu55Gln) | |
| 3 | g.81705471C>T | CA2500023 | GBE1 | c.286G>A (p.Glu96Lys) c.163G>A (p.Glu55Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705472T>A | CA434495464 | GBE1 | c.285A>T (p.Ala95=) c.162A>T (p.Ala54=) | |
| 3 | g.81705472T>C | CA434495468 | GBE1 | c.285A>G (p.Ala95=) c.162A>G (p.Ala54=) | gnomAD v4 |
| 3 | g.81705472T>G | CA434495466 | GBE1 | c.285A>C (p.Ala95=) c.162A>C (p.Ala54=) | |
| 3 | g.81705473G>A | CA353687659 | GBE1 | c.284C>T (p.Ala95Val) c.161C>T (p.Ala54Val) | gnomAD v4 |
| 3 | g.81705473G>C | CA353687660 | GBE1 | c.284C>G (p.Ala95Gly) c.161C>G (p.Ala54Gly) | |
| 3 | g.81705473G>T | CA353687661 | GBE1 | c.284C>A (p.Ala95Glu) c.161C>A (p.Ala54Glu) | gnomAD v4 |
| 3 | g.81705474C>A | CA353687663 | GBE1 | c.283G>T (p.Ala95Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
| 3 | g.81705474C>G | CA353687664 | GBE1 | c.283G>C (p.Ala95Pro) c.160G>C (p.Ala54Pro) | |
| 3 | g.81705474C>T | CA353687662 | GBE1 | c.283G>A (p.Ala95Thr) c.160G>A (p.Ala54Thr) | ClinVar gnomAD v4 |
| 3 | g.81705475T>A | CA434495485 | GBE1 | c.282A>T (p.Gly94=) c.159A>T (p.Gly53=) | |
| 3 | g.81705475T>C | CA434495487 | GBE1 | c.282A>G (p.Gly94=) c.159A>G (p.Gly53=) | |
| 3 | g.81705475T>G | CA434495489 | GBE1 | c.282A>C (p.Gly94=) c.159A>C (p.Gly53=) | |
| 3 | g.81705476C>A | CA353687665 | GBE1 | c.281G>T (p.Gly94Val) c.158G>T (p.Gly53Val) | gnomAD v4 |
| 3 | g.81705476C= | CA1378760071 | GBE1 | c.281G= (p.Gly94=) c.158G= (p.Gly53=) | |
| 3 | g.81705476C>G | CA78298509 | GBE1 | c.281G>C (p.Gly94Ala) c.158G>C (p.Gly53Ala) | dbSNP gnomAD v4 |
| 3 | g.81705476C>T | CA353687666 | GBE1 | c.281G>A (p.Gly94Glu) c.158G>A (p.Gly53Glu) | |
| 3 | g.81705477C>A | CA353687667 | GBE1 | c.280G>T (p.Gly94Ter) c.157G>T (p.Gly53Ter) | |
| 3 | g.81705477C>G | CA353687668 | GBE1 | c.280G>C (p.Gly94Arg) c.157G>C (p.Gly53Arg) | |
| 3 | g.81705477C>T | CA353687669 | GBE1 | c.280G>A (p.Gly94Arg) c.157G>A (p.Gly53Arg) | |
| 3 | g.81705478C>A | CA78298510 | GBE1 | c.279G>T (p.Pro93=) c.156G>T (p.Pro52=) | dbSNP gnomAD v4 |
| 3 | g.81705478C= | CA1378760076 | GBE1 | c.279G= (p.Pro93=) c.156G= (p.Pro52=) | |
| 3 | g.81705478C>G | CA434495511 | GBE1 | c.279G>C (p.Pro93=) c.156G>C (p.Pro52=) | |
| 3 | g.81705478C>T | CA434495509 | GBE1 | c.279G>A (p.Pro93=) c.156G>A (p.Pro52=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705479G>A | CA2500024 | GBE1 | c.278C>T (p.Pro93Leu) c.155C>T (p.Pro52Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705479G>C | CA353687670 | GBE1 | c.278C>G (p.Pro93Arg) c.155C>G (p.Pro52Arg) | gnomAD v4 |
| 3 | g.81705479G= | CA1378760078 | GBE1 | c.278C= (p.Pro93=) c.155C= (p.Pro52=) | |
| 3 | g.81705479G>T | CA353687671 | GBE1 | c.278C>A (p.Pro93Gln) c.155C>A (p.Pro52Gln) | gnomAD v4 |
| 3 | g.81705482del | CA2666607789 | GBE1 | c.278del (p.Pro93ArgfsTer?) c.155del (p.Pro52ArgfsTer?) | gnomAD v4 |
| 3 | g.81705480G>A | CA353687672 | GBE1 | c.277C>T (p.Pro93Ser) c.154C>T (p.Pro52Ser) | gnomAD v4 |
| 3 | g.81705480G>C | CA353687673 | GBE1 | c.277C>G (p.Pro93Ala) c.154C>G (p.Pro52Ala) | |
| 3 | g.81705480G>T | CA353687674 | GBE1 | c.277C>A (p.Pro93Thr) c.154C>A (p.Pro52Thr) | gnomAD v4 |
| 3 | g.81705481G>A | CA434495529 | GBE1 | c.276C>T (p.Ala92=) c.153C>T (p.Ala51=) | ClinVar |
| 3 | g.81705481G>C | CA434495533 | GBE1 | c.276C>G (p.Ala92=) c.153C>G (p.Ala51=) | |
| 3 | g.81705481G= | CA1378760080 | GBE1 | c.276C= (p.Ala92=) c.153C= (p.Ala51=) | |
| 3 | g.81705481G>T | CA434495535 | GBE1 | c.276C>A (p.Ala92=) c.153C>A (p.Ala51=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705482G>A | CA353687675 | GBE1 | c.275C>T (p.Ala92Val) c.152C>T (p.Ala51Val) | gnomAD v4 |
| 3 | g.81705482G>C | CA353687677 | GBE1 | c.275C>G (p.Ala92Gly) c.152C>G (p.Ala51Gly) | |
| 3 | g.81705482G>T | CA353687676 | GBE1 | c.275C>A (p.Ala92Asp) c.152C>A (p.Ala51Asp) | gnomAD v4 |
| 3 | g.81705483C>A | CA353687678 | GBE1 | c.274G>T (p.Ala92Ser) c.151G>T (p.Ala51Ser) | |
| 3 | g.81705483C>G | CA353687680 | GBE1 | c.274G>C (p.Ala92Pro) c.151G>C (p.Ala51Pro) | |
| 3 | g.81705483C>T | CA353687679 | GBE1 | c.274G>A (p.Ala92Thr) c.151G>A (p.Ala51Thr) | |
| 3 | g.81705485del | CA2740094515 | GBE1 | c.274del (p.Ala92ProfsTer?) c.151del (p.Ala51ProfsTer?) | ClinVar |
| 3 | g.81705484C>A | CA353687681 | GBE1 | c.273G>T (p.Trp91Cys) c.150G>T (p.Trp50Cys) | gnomAD v4 |
| 3 | g.81705484C>G | CA353687683 | GBE1 | c.273G>C (p.Trp91Cys) c.150G>C (p.Trp50Cys) | |
| 3 | g.81705484C>T | CA353687682 | GBE1 | c.273G>A (p.Trp91Ter) c.150G>A (p.Trp50Ter) | gnomAD v4 |
| 3 | g.81705485C>A | CA353687684 | GBE1 | c.272G>T (p.Trp91Leu) c.149G>T (p.Trp50Leu) | |
| 3 | g.81705485C>G | CA353687686 | GBE1 | c.272G>C (p.Trp91Ser) c.149G>C (p.Trp50Ser) | |
| 3 | g.81705485C>T | CA353687685 | GBE1 | c.272G>A (p.Trp91Ter) c.149G>A (p.Trp50Ter) | gnomAD v4 |
| 3 | g.81705486A>C | CA353687687 | GBE1 | c.271T>G (p.Trp91Gly) c.148T>G (p.Trp50Gly) | |
| 3 | g.81705486A>G | CA353687689 | GBE1 | c.271T>C (p.Trp91Arg) c.148T>C (p.Trp50Arg) | gnomAD v4 |
| 3 | g.81705486A>T | CA353687688 | GBE1 | c.271T>A (p.Trp91Arg) c.148T>A (p.Trp50Arg) | |
| 3 | g.81705487T>A | CA353687690 | GBE1 | c.270A>T (p.Glu90Asp) c.147A>T (p.Glu49Asp) | |
| 3 | g.81705487T>C | CA434495568 | GBE1 | c.270A>G (p.Glu90=) c.147A>G (p.Glu49=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705487T>G | CA353687691 | GBE1 | c.270A>C (p.Glu90Asp) c.147A>C (p.Glu49Asp) | |
| 3 | g.81705487T= | CA1378760083 | GBE1 | c.270A= (p.Glu90=) c.147A= (p.Glu49=) | |
| 3 | g.81705488T>A | CA353687692 | GBE1 | c.269A>T (p.Glu90Val) c.146A>T (p.Glu49Val) | |
| 3 | g.81705488T>C | CA353687694 | GBE1 | c.269A>G (p.Glu90Gly) c.146A>G (p.Glu49Gly) | |
| 3 | g.81705488T>G | CA353687693 | GBE1 | c.269A>C (p.Glu90Ala) c.146A>C (p.Glu49Ala) | |
| 3 | g.81705489C>A | CA353687695 | GBE1 | c.268G>T (p.Glu90Ter) c.145G>T (p.Glu49Ter) | gnomAD v4 |
| 3 | g.81705489C>G | CA353687696 | GBE1 | c.268G>C (p.Glu90Gln) c.145G>C (p.Glu49Gln) | |
| 3 | g.81705489C>T | CA353687697 | GBE1 | c.268G>A (p.Glu90Lys) c.145G>A (p.Glu49Lys) | gnomAD v4 |
| 3 | g.81705490T>A | CA353687698 | GBE1 | c.267A>T (p.Lys89Asn) c.144A>T (p.Lys48Asn) | |
| 3 | g.81705490T>C | CA434495594 | GBE1 | c.267A>G (p.Lys89=) c.144A>G (p.Lys48=) | |
| 3 | g.81705490T>G | CA353687699 | GBE1 | c.267A>C (p.Lys89Asn) c.144A>C (p.Lys48Asn) | |
| 3 | g.81705491T>A | CA353687700 | GBE1 | c.266A>T (p.Lys89Ile) c.143A>T (p.Lys48Ile) | |
| 3 | g.81705491T>C | CA353687701 | GBE1 | c.266A>G (p.Lys89Arg) c.143A>G (p.Lys48Arg) | |
| 3 | g.81705491T>G | CA353687702 | GBE1 | c.266A>C (p.Lys89Thr) c.143A>C (p.Lys48Thr) | |
| 3 | g.81705492T>A | CA353687703 | GBE1 | c.265A>T (p.Lys89Ter) c.142A>T (p.Lys48Ter) | |
| 3 | g.81705492T>C | CA353687704 | GBE1 | c.265A>G (p.Lys89Glu) c.142A>G (p.Lys48Glu) | |
| 3 | g.81705492T>G | CA353687705 | GBE1 | c.265A>C (p.Lys89Gln) c.142A>C (p.Lys48Gln) | |
| 3 | g.81705493G>A | CA434495610 | GBE1 | c.264C>T (p.Cys88=) c.141C>T (p.Cys47=) | |
| 3 | g.81705493G>C | CA353687707 | GBE1 | c.264C>G (p.Cys88Trp) c.141C>G (p.Cys47Trp) | |
| 3 | g.81705493G>T | CA353687706 | GBE1 | c.264C>A (p.Cys88Ter) c.141C>A (p.Cys47Ter) | |
| 3 | g.81705494C>A | CA353687708 | GBE1 | c.263G>T (p.Cys88Phe) c.140G>T (p.Cys47Phe) | gnomAD v4 |
| 3 | g.81705494C= | CA1378760087 | GBE1 | c.263G= (p.Cys88=) c.140G= (p.Cys47=) | |
| 3 | g.81705494C>G | CA78298511 | GBE1 | c.263G>C (p.Cys88Ser) c.140G>C (p.Cys47Ser) | dbSNP |
| 3 | g.81705494C>T | CA2500025 | GBE1 | c.263G>A (p.Cys88Tyr) c.140G>A (p.Cys47Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705495A>C | CA353687709 | GBE1 | c.262T>G (p.Cys88Gly) c.139T>G (p.Cys47Gly) | |
| 3 | g.81705495A>G | CA353687710 | GBE1 | c.262T>C (p.Cys88Arg) c.139T>C (p.Cys47Arg) | gnomAD v4 |
| 3 | g.81705495A>T | CA353687711 | GBE1 | c.262T>A (p.Cys88Ser) c.139T>A (p.Cys47Ser) | |
| 3 | g.81705496G>A | CA434495642 | GBE1 | c.261C>T (p.Tyr87=) c.138C>T (p.Tyr46=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705496G>C | CA353687712 | GBE1 | c.261C>G (p.Tyr87Ter) c.138C>G (p.Tyr46Ter) | |
| 3 | g.81705496G= | CA1378760091 | GBE1 | c.261C= (p.Tyr87=) c.138C= (p.Tyr46=) | |
| 3 | g.81705496G>T | CA353687713 | GBE1 | c.261C>A (p.Tyr87Ter) c.138C>A (p.Tyr46Ter) | |
| 3 | g.81705497T>A | CA353687714 | GBE1 | c.260A>T (p.Tyr87Phe) c.137A>T (p.Tyr46Phe) | dbSNP gnomAD v4 |
| 3 | g.81705497T>C | CA353687715 | GBE1 | c.260A>G (p.Tyr87Cys) c.137A>G (p.Tyr46Cys) | |
| 3 | g.81705497T>G | CA353687716 | GBE1 | c.260A>C (p.Tyr87Ser) c.137A>C (p.Tyr46Ser) | |
| 3 | g.81705497T= | CA1378760094 | GBE1 | c.260A= (p.Tyr87=) c.137A= (p.Tyr46=) | |
| 3 | g.81705498A= | CA1378760097 | GBE1 | c.259T= (p.Tyr87=) c.136T= (p.Tyr46=) | |
| 3 | g.81705498A>C | CA353687719 | GBE1 | c.259T>G (p.Tyr87Asp) c.136T>G (p.Tyr46Asp) | |
| 3 | g.81705498A>G | CA353687718 | GBE1 | c.259T>C (p.Tyr87His) c.136T>C (p.Tyr46His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705498A>T | CA353687717 | GBE1 | c.259T>A (p.Tyr87Asn) c.136T>A (p.Tyr46Asn) | |
| 3 | g.81705499T>A | CA353687720 | GBE1 | c.258A>T (p.Leu86Phe) c.135A>T (p.Leu45Phe) | |
| 3 | g.81705499T>C | CA2500026 | GBE1 | c.258A>G (p.Leu86=) c.135A>G (p.Leu45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705499T>G | CA353687721 | GBE1 | c.258A>C (p.Leu86Phe) c.135A>C (p.Leu45Phe) | |
| 3 | g.81705499T= | CA1378760101 | GBE1 | c.258A= (p.Leu86=) c.135A= (p.Leu45=) | |
| 3 | g.81705500A>C | CA353687722 | GBE1 | c.257T>G (p.Leu86Ter) c.134T>G (p.Leu45Ter) | |
| 3 | g.81705500A>G | CA353687723 | GBE1 | c.257T>C (p.Leu86Ser) c.134T>C (p.Leu45Ser) | gnomAD v4 |
| 3 | g.81705500A>T | CA353687724 | GBE1 | c.257T>A (p.Leu86Ter) c.134T>A (p.Leu45Ter) | |
| 3 | g.81705502del | CA2666607790 | GBE1 | c.257del (p.Leu86TyrfsTer?) c.134del (p.Leu45TyrfsTer?) | gnomAD v4 |
| 3 | g.81705500_81705505dup | CA2500027 | GBE1 | c.252_257dup (p.Gly85_Leu86insPheGly) c.129_134dup (p.Gly44_Leu45insPheGly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705501A>C | CA353687725 | GBE1 | c.256T>G (p.Leu86Val) c.133T>G (p.Leu45Val) | |
| 3 | g.81705501A>G | CA434495682 | GBE1 | c.256T>C (p.Leu86=) c.133T>C (p.Leu45=) | |
| 3 | g.81705501A>T | CA353687726 | GBE1 | c.256T>A (p.Leu86Ile) c.133T>A (p.Leu45Ile) | |
| 3 | g.81705502A>C | CA434495693 | GBE1 | c.255T>G (p.Gly85=) c.132T>G (p.Gly44=) | |
| 3 | g.81705502A>G | CA434495690 | GBE1 | c.255T>C (p.Gly85=) c.132T>C (p.Gly44=) | |
| 3 | g.81705502A>T | CA434495688 | GBE1 | c.255T>A (p.Gly85=) c.132T>A (p.Gly44=) | |
| 3 | g.81705502_81705503delinsAC | CA1378760108 | GBE1 | c.254_255delinsGT (p.Gly85=) c.131_132delinsGT (p.Gly44=) | |
| 3 | g.81705503C>A | CA353687727 | GBE1 | c.254G>T (p.Gly85Val) c.131G>T (p.Gly44Val) | gnomAD v4 |
| 3 | g.81705503C>G | CA353687728 | GBE1 | c.254G>C (p.Gly85Ala) c.131G>C (p.Gly44Ala) | |
| 3 | g.81705503C>T | CA353687729 | GBE1 | c.254G>A (p.Gly85Asp) c.131G>A (p.Gly44Asp) | gnomAD v4 |
| 3 | g.81705504del | CA78298512 | GBE1 | c.254del (p.Gly85ValfsTer?) c.131del (p.Gly44ValfsTer?) | dbSNP |
| 3 | g.81705504C>A | CA353687732 | GBE1 | c.253G>T (p.Gly85Cys) c.130G>T (p.Gly44Cys) | |
| 3 | g.81705504C>G | CA353687730 | GBE1 | c.253G>C (p.Gly85Arg) c.130G>C (p.Gly44Arg) | |
| 3 | g.81705504C>T | CA353687731 | GBE1 | c.253G>A (p.Gly85Ser) c.130G>A (p.Gly44Ser) | |
| 3 | g.81705505A>C | CA434495709 | GBE1 | c.252T>G (p.Gly84=) c.129T>G (p.Gly43=) | |
| 3 | g.81705505A>G | CA434495712 | GBE1 | c.252T>C (p.Gly84=) c.129T>C (p.Gly43=) | |
| 3 | g.81705505A>T | CA434495713 | GBE1 | c.252T>A (p.Gly84=) c.129T>A (p.Gly43=) | |
| 3 | g.81705506C>A | CA353687733 | GBE1 | c.251G>T (p.Gly84Val) c.128G>T (p.Gly43Val) | |
| 3 | g.81705506C= | CA1378760115 | GBE1 | c.251G= (p.Gly84=) c.128G= (p.Gly43=) | |
| 3 | g.81705506C>G | CA353687734 | GBE1 | c.251G>C (p.Gly84Ala) c.128G>C (p.Gly43Ala) | |
| 3 | g.81705506C>T | CA2500028 | GBE1 | c.251G>A (p.Gly84Asp) c.128G>A (p.Gly43Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705507C>A | CA353687735 | GBE1 | c.250G>T (p.Gly84Cys) c.127G>T (p.Gly43Cys) | gnomAD v4 |
| 3 | g.81705507C>G | CA353687736 | GBE1 | c.250G>C (p.Gly84Arg) c.127G>C (p.Gly43Arg) | gnomAD v4 |
| 3 | g.81705507C>T | CA353687737 | GBE1 | c.250G>A (p.Gly84Ser) c.127G>A (p.Gly43Ser) | |
| 3 | g.81705508A= | CA1378760117 | GBE1 | c.249T= (p.Asp83=) c.126T= (p.Asp42=) | |
| 3 | g.81705508A>C | CA353687738 | GBE1 | c.249T>G (p.Asp83Glu) c.126T>G (p.Asp42Glu) | |
| 3 | g.81705508A>G | CA434495733 | GBE1 | c.249T>C (p.Asp83=) c.126T>C (p.Asp42=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705508A>T | CA353687739 | GBE1 | c.249T>A (p.Asp83Glu) c.126T>A (p.Asp42Glu) | |
| 3 | g.81705509T>A | CA353687740 | GBE1 | c.248A>T (p.Asp83Val) c.125A>T (p.Asp42Val) | |
| 3 | g.81705509T>C | CA353687741 | GBE1 | c.248A>G (p.Asp83Gly) c.125A>G (p.Asp42Gly) | |
| 3 | g.81705509T>G | CA353687742 | GBE1 | c.248A>C (p.Asp83Ala) c.125A>C (p.Asp42Ala) | |
| 3 | g.81705510C>A | CA353687744 | GBE1 | c.247G>T (p.Asp83Tyr) c.124G>T (p.Asp42Tyr) | |
| 3 | g.81705510C= | CA1378760119 | GBE1 | c.247G= (p.Asp83=) c.124G= (p.Asp42=) | |
| 3 | g.81705510C>G | CA353687745 | GBE1 | c.247G>C (p.Asp83His) c.124G>C (p.Asp42His) | |
| 3 | g.81705510C>T | CA353687743 | GBE1 | c.247G>A (p.Asp83Asn) c.124G>A (p.Asp42Asn) | dbSNP gnomAD v4 |
| 3 | g.81705511A>C | CA434495741 | GBE1 | c.246T>G (p.Ala82=) c.123T>G (p.Ala41=) | |
| 3 | g.81705511A>G | CA434495742 | GBE1 | c.246T>C (p.Ala82=) c.123T>C (p.Ala41=) | gnomAD v4 |
| 3 | g.81705511A>T | CA434495744 | GBE1 | c.246T>A (p.Ala82=) c.123T>A (p.Ala41=) | |
| 3 | g.81705512G>A | CA353687746 | GBE1 | c.245C>T (p.Ala82Val) c.122C>T (p.Ala41Val) | gnomAD v4 |
| 3 | g.81705512G>C | CA353687747 | GBE1 | c.245C>G (p.Ala82Gly) c.122C>G (p.Ala41Gly) | |
| 3 | g.81705512G>T | CA353687748 | GBE1 | c.245C>A (p.Ala82Asp) c.122C>A (p.Ala41Asp) | gnomAD v4 |
| 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 |