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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81577898T>A | CA2499611 | GBE1 | c.1618+27A>T (n.1618+27A>T) n.19+27A>T c.1495+27A>T (n.1495+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81577898T>C | CA2666604680 | GBE1 | c.1618+27A>G (n.1618+27A>G) n.19+27A>G c.1495+27A>G (n.1495+27A>G) | gnomAD v4 |
| 3 | g.81577898T= | CA1378698101 | GBE1 | c.1618+27A= (n.1618+27A=) n.19+27A= c.1495+27A= (n.1495+27A=) | |
| 3 | g.81577900G>T | CA2666604681 | GBE1 | c.1618+25C>A (n.1618+25C>A) n.19+25C>A c.1495+25C>A (n.1495+25C>A) | gnomAD v4 |
| 3 | g.81577901C= | CA1378698103 | GBE1 | c.1618+24G= (n.1618+24G=) n.19+24G= c.1495+24G= (n.1495+24G=) | |
| 3 | g.81577901C>T | CA2499612 | GBE1 | c.1618+24G>A (n.1618+24G>A) n.19+24G>A c.1495+24G>A (n.1495+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577901_81577902delinsCA | CA1378698102 | GBE1 | c.1618+23_1618+24delinsTG (n.1618+23_1618+24delinsTG) n.19+23_19+24delinsTG c.1495+23_1495+24delinsTG (n.1495+23_1495+24delinsTG) | |
| 3 | g.81577902del | CA2499613 | GBE1 | c.1618+23del (n.1618+23del) n.19+23del c.1495+23del (n.1495+23del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81577902A= | CA1378698104 | GBE1 | c.1618+23T= (n.1618+23T=) n.19+23T= c.1495+23T= (n.1495+23T=) | |
| 3 | g.81577902A>G | CA2499614 | GBE1 | c.1618+23T>C (n.1618+23T>C) n.19+23T>C c.1495+23T>C (n.1495+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81577903T>C | CA2499615 | GBE1 | c.1618+22A>G (n.1618+22A>G) n.19+22A>G c.1495+22A>G (n.1495+22A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577903T= | CA1378698105 | GBE1 | c.1618+22A= (n.1618+22A=) n.19+22A= c.1495+22A= (n.1495+22A=) | |
| 3 | g.81577905T>A | CA1378698107 | GBE1 | c.1618+20A>T (n.1618+20A>T) n.19+20A>T c.1495+20A>T (n.1495+20A>T) | dbSNP |
| 3 | g.81577905T>C | CA544502696 | GBE1 | c.1618+20A>G (n.1618+20A>G) n.19+20A>G c.1495+20A>G (n.1495+20A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81577905T>G | CA1378698108 | GBE1 | c.1618+20A>C (n.1618+20A>C) n.19+20A>C c.1495+20A>C (n.1495+20A>C) | dbSNP |
| 3 | g.81577905T= | CA1378698106 | GBE1 | c.1618+20A= (n.1618+20A=) n.19+20A= c.1495+20A= (n.1495+20A=) | |
| 3 | g.81577906G>A | CA1378698110 | GBE1 | c.1618+19C>T (n.1618+19C>T) n.19+19C>T c.1495+19C>T (n.1495+19C>T) | dbSNP gnomAD v4 |
| 3 | g.81577906G= | CA1378698109 | GBE1 | c.1618+19C= (n.1618+19C=) n.19+19C= c.1495+19C= (n.1495+19C=) | |
| 3 | g.81577906G>T | CA2666604682 | GBE1 | c.1618+19C>A (n.1618+19C>A) n.19+19C>A c.1495+19C>A (n.1495+19C>A) | gnomAD v4 |
| 3 | g.81577907T>A | CA78284836 | GBE1 | c.1618+18A>T (n.1618+18A>T) n.19+18A>T c.1495+18A>T (n.1495+18A>T) | dbSNP |
| 3 | g.81577907T>G | CA1378698112 | GBE1 | c.1618+18A>C (n.1618+18A>C) n.19+18A>C c.1495+18A>C (n.1495+18A>C) | dbSNP |
| 3 | g.81577907T= | CA1378698111 | GBE1 | c.1618+18A= (n.1618+18A=) n.19+18A= c.1495+18A= (n.1495+18A=) | |
| 3 | g.81577908G>T | CA2666604683 | GBE1 | c.1618+17C>A (n.1618+17C>A) n.19+17C>A c.1495+17C>A (n.1495+17C>A) | gnomAD v4 |
| 3 | g.81577909T>A | CA2577825661 | GBE1 | c.1618+16A>T (n.1618+16A>T) n.19+16A>T c.1495+16A>T (n.1495+16A>T) | ClinVar gnomAD v4 |
| 3 | g.81577912A>T | CA2666604684 | GBE1 | c.1618+13T>A (n.1618+13T>A) n.19+13T>A c.1495+13T>A (n.1495+13T>A) | gnomAD v4 |
| 3 | g.81577914C>A | CA2666604685 | GBE1 | c.1618+11G>T (n.1618+11G>T) n.19+11G>T c.1495+11G>T (n.1495+11G>T) | gnomAD v4 |
| 3 | g.81577915del | CA2666604686 | GBE1 | c.1618+10del (n.1618+10del) n.19+10del c.1495+10del (n.1495+10del) | gnomAD v4 |
| 3 | g.81577915T>C | CA2703153197 | GBE1 | c.1618+10A>G (n.1618+10A>G) n.19+10A>G c.1495+10A>G (n.1495+10A>G) | dbSNP |
| 3 | g.81577916C>A | CA2666604688 | GBE1 | c.1618+9G>T (n.1618+9G>T) n.19+9G>T c.1495+9G>T (n.1495+9G>T) | gnomAD v4 |
| 3 | g.81577919_81577920del | CA2666604687 | GBE1 | c.1618+8_1618+9del (n.1618+8_1618+9del) n.19+8_19+9del c.1495+8_1495+9del (n.1495+8_1495+9del) | gnomAD v4 |
| 3 | g.81577918_81577922delinsCACTT | CA1378698113 | GBE1 | c.1618+3_1618+7delinsAAGTG (n.1618+3_1618+7delinsAAGTG) n.19+3_19+7delinsAAGTG c.1495+3_1495+7delinsAAGTG (n.1495+3_1495+7delinsAAGTG) | |
| 3 | g.81577921_81577924del | CA2499616 | GBE1 | c.1618+3_1618+6del (n.1618+3_1618+6del) n.19+3_19+6del c.1495+3_1495+6del (n.1495+3_1495+6del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577920C>T | CA2666604689 | GBE1 | c.1618+5G>A (n.1618+5G>A) n.19+5G>A c.1495+5G>A (n.1495+5G>A) | gnomAD v4 |
| 3 | g.81577921T>C | CA2499617 | GBE1 | c.1618+4A>G (n.1618+4A>G) n.19+4A>G c.1495+4A>G (n.1495+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577921T= | CA1378698114 | GBE1 | c.1618+4A= (n.1618+4A=) n.19+4A= c.1495+4A= (n.1495+4A=) | |
| 3 | g.81577922T>C | CA2666604690 | GBE1 | c.1618+3A>G (n.1618+3A>G) n.19+3A>G c.1495+3A>G (n.1495+3A>G) | gnomAD v4 |
| 3 | g.81577923A>C | CA353684546 | GBE1 | c.1618+2T>G (n.1618+2T>G) n.19+2T>G c.1495+2T>G (n.1495+2T>G) | gnomAD v4 |
| 3 | g.81577923A>G | CA353684547 | GBE1 | c.1618+2T>C (n.1618+2T>C) n.19+2T>C c.1495+2T>C (n.1495+2T>C) | |
| 3 | g.81577923A>T | CA353684548 | GBE1 | c.1618+2T>A (n.1618+2T>A) n.19+2T>A c.1495+2T>A (n.1495+2T>A) | |
| 3 | g.81577924C>A | CA353684549 | GBE1 | c.1618+1G>T (n.1618+1G>T) n.19+1G>T c.1495+1G>T (n.1495+1G>T) | |
| 3 | g.81577924C= | CA1378698115 | GBE1 | c.1618+1G= (n.1618+1G=) n.19+1G= c.1495+1G= (n.1495+1G=) | |
| 3 | g.81577924C>G | CA353684550 | GBE1 | c.1618+1G>C (n.1618+1G>C) n.19+1G>C c.1495+1G>C (n.1495+1G>C) | |
| 3 | g.81577924C>T | CA16602220 | GBE1 | c.1618+1G>A (n.1618+1G>A) n.19+1G>A c.1495+1G>A (n.1495+1G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81577925C>A | CA353684553 | GBE1 | c.1618G>T (p.Gly540Cys) n.19G>T c.1495G>T (p.Gly499Cys) | gnomAD v4 |
| 3 | g.81577925C= | CA1378698116 | GBE1 | c.1618G= (p.Gly540=) n.19G= c.1495G= (p.Gly499=) | |
| 3 | g.81577925C>G | CA353684552 | GBE1 | c.1618G>C (p.Gly540Arg) n.19G>C c.1495G>C (p.Gly499Arg) | |
| 3 | g.81577925C>T | CA353684551 | GBE1 | c.1618G>A (p.Gly540Ser) n.19G>A c.1495G>A (p.Gly499Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577926C>A | CA353684554 | GBE1 | c.1617G>T (p.Met539Ile) n.18G>T c.1494G>T (p.Met498Ile) | |
| 3 | g.81577926C>G | CA353684555 | GBE1 | c.1617G>C (p.Met539Ile) n.18G>C c.1494G>C (p.Met498Ile) | |
| 3 | g.81577926C>T | CA353684556 | GBE1 | c.1617G>A (p.Met539Ile) n.18G>A c.1494G>A (p.Met498Ile) | |
| 3 | g.81577927A>C | CA353684557 | GBE1 | c.1616T>G (p.Met539Arg) n.17T>G c.1493T>G (p.Met498Arg) | |
| 3 | g.81577927A>G | CA353684558 | GBE1 | c.1616T>C (p.Met539Thr) n.17T>C c.1493T>C (p.Met498Thr) | |
| 3 | g.81577927A>T | CA353684559 | GBE1 | c.1616T>A (p.Met539Lys) n.17T>A c.1493T>A (p.Met498Lys) | |
| 3 | g.81577928T>A | CA353684562 | GBE1 | c.1615A>T (p.Met539Leu) n.16A>T c.1492A>T (p.Met498Leu) | ClinVar dbSNP |
| 3 | g.81577928T>C | CA353684560 | GBE1 | c.1615A>G (p.Met539Val) n.16A>G c.1492A>G (p.Met498Val) | gnomAD v4 |
| 3 | g.81577928T>G | CA353684561 | GBE1 | c.1615A>C (p.Met539Leu) n.16A>C c.1492A>C (p.Met498Leu) | |
| 3 | g.81577928T= | CA1378698117 | GBE1 | c.1615A= (p.Met539=) n.16A= c.1492A= (p.Met498=) | |
| 3 | g.81577929G>A | CA434492131 | GBE1 | c.1614C>T (p.Phe538=) n.15C>T c.1491C>T (p.Phe497=) | |
| 3 | g.81577929G>C | CA353684563 | GBE1 | c.1614C>G (p.Phe538Leu) n.15C>G c.1491C>G (p.Phe497Leu) | |
| 3 | g.81577929G>T | CA353684564 | GBE1 | c.1614C>A (p.Phe538Leu) n.15C>A c.1491C>A (p.Phe497Leu) | |
| 3 | g.81577930A>C | CA353684565 | GBE1 | c.1613T>G (p.Phe538Cys) n.14T>G c.1490T>G (p.Phe497Cys) | |
| 3 | g.81577930A>G | CA353684566 | GBE1 | c.1613T>C (p.Phe538Ser) n.14T>C c.1490T>C (p.Phe497Ser) | |
| 3 | g.81577930A>T | CA353684567 | GBE1 | c.1613T>A (p.Phe538Tyr) n.14T>A c.1490T>A (p.Phe497Tyr) | |
| 3 | g.81577931A= | CA1378698118 | GBE1 | c.1612T= (p.Phe538=) n.13T= c.1489T= (p.Phe497=) | |
| 3 | g.81577931A>C | CA353684568 | GBE1 | c.1612T>G (p.Phe538Val) n.13T>G c.1489T>G (p.Phe497Val) | ClinVar dbSNP |
| 3 | g.81577931A>G | CA353684570 | GBE1 | c.1612T>C (p.Phe538Leu) n.13T>C c.1489T>C (p.Phe497Leu) | |
| 3 | g.81577931A>T | CA353684569 | GBE1 | c.1612T>A (p.Phe538Ile) n.13T>A c.1489T>A (p.Phe497Ile) | |
| 3 | g.81577932A>C | CA353684571 | GBE1 | c.1611T>G (p.Asn537Lys) n.12T>G c.1488T>G (p.Asn496Lys) | |
| 3 | g.81577932A>G | CA434492141 | GBE1 | c.1611T>C (p.Asn537=) n.12T>C c.1488T>C (p.Asn496=) | |
| 3 | g.81577932A>T | CA353684572 | GBE1 | c.1611T>A (p.Asn537Lys) n.12T>A c.1488T>A (p.Asn496Lys) | |
| 3 | g.81577933T>A | CA353684573 | GBE1 | c.1610A>T (p.Asn537Ile) n.11A>T c.1487A>T (p.Asn496Ile) | |
| 3 | g.81577933T>C | CA353684574 | GBE1 | c.1610A>G (p.Asn537Ser) n.11A>G c.1487A>G (p.Asn496Ser) | |
| 3 | g.81577933T>G | CA353684575 | GBE1 | c.1610A>C (p.Asn537Thr) n.11A>C c.1487A>C (p.Asn496Thr) | |
| 3 | g.81577934T>A | CA353684576 | GBE1 | c.1609A>T (p.Asn537Tyr) n.10A>T c.1486A>T (p.Asn496Tyr) | gnomAD v4 |
| 3 | g.81577934T>C | CA353684577 | GBE1 | c.1609A>G (p.Asn537Asp) n.10A>G c.1486A>G (p.Asn496Asp) | |
| 3 | g.81577934T>G | CA353684578 | GBE1 | c.1609A>C (p.Asn537His) n.10A>C c.1486A>C (p.Asn496His) | |
| 3 | g.81577935G>A | CA434492150 | GBE1 | c.1608C>T (p.Leu536=) n.9C>T c.1485C>T (p.Leu495=) | ClinVar |
| 3 | g.81577935G>C | CA434492152 | GBE1 | c.1608C>G (p.Leu536=) n.9C>G c.1485C>G (p.Leu495=) | |
| 3 | g.81577935G>T | CA434492154 | GBE1 | c.1608C>A (p.Leu536=) n.9C>A c.1485C>A (p.Leu495=) | |
| 3 | g.81577936A>C | CA353684579 | GBE1 | c.1607T>G (p.Leu536Arg) n.8T>G c.1484T>G (p.Leu495Arg) | |
| 3 | g.81577936A>G | CA353684580 | GBE1 | c.1607T>C (p.Leu536Pro) n.8T>C c.1484T>C (p.Leu495Pro) | |
| 3 | g.81577936A>T | CA353684581 | GBE1 | c.1607T>A (p.Leu536His) n.8T>A c.1484T>A (p.Leu495His) | |
| 3 | g.81577937G>A | CA353684582 | GBE1 | c.1606C>T (p.Leu536Phe) n.7C>T c.1483C>T (p.Leu495Phe) | |
| 3 | g.81577937G>C | CA353684584 | GBE1 | c.1606C>G (p.Leu536Val) n.7C>G c.1483C>G (p.Leu495Val) | dbSNP gnomAD v4 |
| 3 | g.81577937G= | CA1378698119 | GBE1 | c.1606C= (p.Leu536=) n.7C= c.1483C= (p.Leu495=) | |
| 3 | g.81577937G>T | CA353684583 | GBE1 | c.1606C>A (p.Leu536Ile) n.7C>A c.1483C>A (p.Leu495Ile) | |
| 3 | g.81577938A>C | CA353684585 | GBE1 | c.1605T>G (p.Tyr535Ter) n.6T>G c.1482T>G (p.Tyr494Ter) | |
| 3 | g.81577938A>G | CA434492165 | GBE1 | c.1605T>C (p.Tyr535=) n.6T>C c.1482T>C (p.Tyr494=) | |
| 3 | g.81577938A>T | CA353684586 | GBE1 | c.1605T>A (p.Tyr535Ter) n.6T>A c.1482T>A (p.Tyr494Ter) | ClinVar |
| 3 | g.81577939T>A | CA353684587 | GBE1 | c.1604A>T (p.Tyr535Phe) n.5A>T c.1481A>T (p.Tyr494Phe) | |
| 3 | g.81577939T>C | CA10616731 | GBE1 | c.1604A>G (p.Tyr535Cys) n.5A>G c.1481A>G (p.Tyr494Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577939T>G | CA353684588 | GBE1 | c.1604A>C (p.Tyr535Ser) n.5A>C c.1481A>C (p.Tyr494Ser) | |
| 3 | g.81577939T= | CA1378698120 | GBE1 | c.1604A= (p.Tyr535=) n.5A= c.1481A= (p.Tyr494=) | |
| 3 | g.81577940A>C | CA353684589 | GBE1 | c.1603T>G (p.Tyr535Asp) n.4T>G c.1480T>G (p.Tyr494Asp) | |
| 3 | g.81577940A>G | CA353684590 | GBE1 | c.1603T>C (p.Tyr535His) n.4T>C c.1480T>C (p.Tyr494His) | gnomAD v4 |
| 3 | g.81577940A>T | CA353684591 | GBE1 | c.1603T>A (p.Tyr535Asn) n.4T>A c.1480T>A (p.Tyr494Asn) | |
| 3 | g.81577941G>A | CA434492174 | GBE1 | c.1602C>T (p.Gly534=) n.3C>T c.1479C>T (p.Gly493=) | gnomAD v4 |
| 3 | g.81577941G>C | CA434492175 | GBE1 | c.1602C>G (p.Gly534=) n.3C>G c.1479C>G (p.Gly493=) | gnomAD v4 |
| 3 | g.81577941G>T | CA434492177 | GBE1 | c.1602C>A (p.Gly534=) n.3C>A c.1479C>A (p.Gly493=) | |
| 3 | g.81577942C>A | CA353684592 | GBE1 | c.1601G>T (p.Gly534Val) n.2G>T c.1478G>T (p.Gly493Val) | ClinVar dbSNP |
| 3 | g.81577942C>G | CA353684593 | GBE1 | c.1601G>C (p.Gly534Ala) n.2G>C c.1478G>C (p.Gly493Ala) | |
| 3 | g.81577942C>T | CA353684594 | GBE1 | c.1601G>A (p.Gly534Asp) n.2G>A c.1478G>A (p.Gly493Asp) | |
| 3 | g.81577943C>A | CA353684595 | GBE1 | c.1600G>T (p.Gly534Cys) n.1G>T c.1477G>T (p.Gly493Cys) | |
| 3 | g.81577943C= | CA1378698121 | GBE1 | c.1600G= (p.Gly534=) n.1G= c.1477G= (p.Gly493=) | |
| 3 | g.81577943C>G | CA353684596 | GBE1 | c.1600G>C (p.Gly534Arg) n.1G>C c.1477G>C (p.Gly493Arg) | gnomAD v4 |
| 3 | g.81577943C>T | CA353684597 | GBE1 | c.1600G>A (p.Gly534Ser) n.1G>A c.1477G>A (p.Gly493Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81577945_81577947del | CA2666621161 | GBE1 | c.1598_1600del (p.Glu533del) c.1475_1477del (p.Glu492del) | gnomAD v4 |
| 3 | g.81577944T>A | CA353684598 | GBE1 | c.1599A>T (p.Glu533Asp) c.1476A>T (p.Glu492Asp) | |
| 3 | g.81577944T>C | CA434492185 | GBE1 | c.1599A>G (p.Glu533=) c.1476A>G (p.Glu492=) | |
| 3 | g.81577944T>G | CA353684599 | GBE1 | c.1599A>C (p.Glu533Asp) c.1476A>C (p.Glu492Asp) | |
| 3 | g.81577945T>A | CA353684602 | GBE1 | c.1598A>T (p.Glu533Val) c.1475A>T (p.Glu492Val) | |
| 3 | g.81577945T>C | CA353684601 | GBE1 | c.1598A>G (p.Glu533Gly) c.1475A>G (p.Glu492Gly) | |
| 3 | g.81577945T>G | CA353684600 | GBE1 | c.1598A>C (p.Glu533Ala) c.1475A>C (p.Glu492Ala) | |
| 3 | g.81577946C>A | CA353684603 | GBE1 | c.1597G>T (p.Glu533Ter) c.1474G>T (p.Glu492Ter) | |
| 3 | g.81577946C>G | CA353684604 | GBE1 | c.1597G>C (p.Glu533Gln) c.1474G>C (p.Glu492Gln) | |
| 3 | g.81577946C>T | CA353684605 | GBE1 | c.1597G>A (p.Glu533Lys) c.1474G>A (p.Glu492Lys) | |
| 3 | g.81577947T>A | CA434492195 | GBE1 | c.1596A>T (p.Gly532=) c.1473A>T (p.Gly491=) | |
| 3 | g.81577947T>C | CA434492197 | GBE1 | c.1596A>G (p.Gly532=) c.1473A>G (p.Gly491=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81577947T>G | CA434492193 | GBE1 | c.1596A>C (p.Gly532=) c.1473A>C (p.Gly491=) | |
| 3 | g.81577947T= | CA1378698122 | GBE1 | c.1596A= (p.Gly532=) c.1473A= (p.Gly491=) | |
| 3 | g.81577948C>A | CA353684606 | GBE1 | c.1595G>T (p.Gly532Val) c.1472G>T (p.Gly491Val) | |
| 3 | g.81577948C>G | CA353684607 | GBE1 | c.1595G>C (p.Gly532Ala) c.1472G>C (p.Gly491Ala) | |
| 3 | g.81577948C>T | CA353684608 | GBE1 | c.1595G>A (p.Gly532Glu) c.1472G>A (p.Gly491Glu) | |
| 3 | g.81577949C>A | CA353684609 | GBE1 | c.1594G>T (p.Gly532Ter) c.1471G>T (p.Gly491Ter) | |
| 3 | g.81577949C>G | CA353684610 | GBE1 | c.1594G>C (p.Gly532Arg) c.1471G>C (p.Gly491Arg) | |
| 3 | g.81577949C>T | CA353684611 | GBE1 | c.1594G>A (p.Gly532Arg) c.1471G>A (p.Gly491Arg) | |
| 3 | g.81577950A>C | CA434492205 | GBE1 | c.1593T>G (p.Gly531=) c.1470T>G (p.Gly490=) | |
| 3 | g.81577950A>G | CA434492206 | GBE1 | c.1593T>C (p.Gly531=) c.1470T>C (p.Gly490=) | |
| 3 | g.81577950A>T | CA434492208 | GBE1 | c.1593T>A (p.Gly531=) c.1470T>A (p.Gly490=) | |
| 3 | g.81577951C>A | CA353684612 | GBE1 | c.1592G>T (p.Gly531Val) c.1469G>T (p.Gly490Val) | gnomAD v4 |
| 3 | g.81577951C>G | CA353684613 | GBE1 | c.1592G>C (p.Gly531Ala) c.1469G>C (p.Gly490Ala) | |
| 3 | g.81577951C>T | CA353684614 | GBE1 | c.1592G>A (p.Gly531Asp) c.1469G>A (p.Gly490Asp) | ClinVar dbSNP |
| 3 | g.81577952C>A | CA353684616 | GBE1 | c.1591G>T (p.Gly531Cys) c.1468G>T (p.Gly490Cys) | |
| 3 | g.81577952C= | CA1378698123 | GBE1 | c.1591G= (p.Gly531=) c.1468G= (p.Gly490=) | |
| 3 | g.81577952C>G | CA353684615 | GBE1 | c.1591G>C (p.Gly531Arg) c.1468G>C (p.Gly490Arg) | |
| 3 | g.81577952C>T | CA2499618 | GBE1 | c.1591G>A (p.Gly531Ser) c.1468G>A (p.Gly490Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577953A>C | CA434492217 | GBE1 | c.1590T>G (p.Leu530=) c.1467T>G (p.Leu489=) | |
| 3 | g.81577953A>G | CA434492218 | GBE1 | c.1590T>C (p.Leu530=) c.1467T>C (p.Leu489=) | |
| 3 | g.81577953A>T | CA434492220 | GBE1 | c.1590T>A (p.Leu530=) c.1467T>A (p.Leu489=) | |
| 3 | g.81577954A>C | CA353684617 | GBE1 | c.1589T>G (p.Leu530Arg) c.1466T>G (p.Leu489Arg) | |
| 3 | g.81577954A>G | CA353684618 | GBE1 | c.1589T>C (p.Leu530Pro) c.1466T>C (p.Leu489Pro) | |
| 3 | g.81577954A>T | CA353684619 | GBE1 | c.1589T>A (p.Leu530His) c.1466T>A (p.Leu489His) | |
| 3 | g.81577955G>A | CA353684620 | GBE1 | c.1588C>T (p.Leu530Phe) c.1465C>T (p.Leu489Phe) | |
| 3 | g.81577955G>C | CA353684621 | GBE1 | c.1588C>G (p.Leu530Val) c.1465C>G (p.Leu489Val) | |
| 3 | g.81577955G>T | CA353684622 | GBE1 | c.1588C>A (p.Leu530Ile) c.1465C>A (p.Leu489Ile) | |
| 3 | g.81577956C>A | CA434492228 | GBE1 | c.1587G>T (p.Gly529=) c.1464G>T (p.Gly488=) | |
| 3 | g.81577956C= | CA1378698124 | GBE1 | c.1587G= (p.Gly529=) c.1464G= (p.Gly488=) | |
| 3 | g.81577956C>G | CA434492230 | GBE1 | c.1587G>C (p.Gly529=) c.1464G>C (p.Gly488=) | gnomAD v4 |
| 3 | g.81577956C>T | CA434492231 | GBE1 | c.1587G>A (p.Gly529=) c.1464G>A (p.Gly488=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81577957C>A | CA353684623 | GBE1 | c.1586G>T (p.Gly529Val) c.1463G>T (p.Gly488Val) | |
| 3 | g.81577957C= | CA1378698125 | GBE1 | c.1586G= (p.Gly529=) c.1463G= (p.Gly488=) | |
| 3 | g.81577957C>G | CA353684624 | GBE1 | c.1586G>C (p.Gly529Ala) c.1463G>C (p.Gly488Ala) | |
| 3 | g.81577957C>T | CA353684625 | GBE1 | c.1586G>A (p.Gly529Glu) c.1463G>A (p.Gly488Glu) | dbSNP gnomAD v4 |
| 3 | g.81577958C>A | CA353684626 | GBE1 | c.1585G>T (p.Gly529Trp) c.1462G>T (p.Gly488Trp) | |
| 3 | g.81577958C>G | CA353684627 | GBE1 | c.1585G>C (p.Gly529Arg) c.1462G>C (p.Gly488Arg) | |
| 3 | g.81577958C>T | CA353684628 | GBE1 | c.1585G>A (p.Gly529Arg) c.1462G>A (p.Gly488Arg) | |
| 3 | g.81577959A= | CA1378698126 | GBE1 | c.1584T= (p.His528=) c.1461T= (p.His487=) | |
| 3 | g.81577959A>C | CA353684630 | GBE1 | c.1584T>G (p.His528Gln) c.1461T>G (p.His487Gln) | |
| 3 | g.81577959A>G | CA78284837 | GBE1 | c.1584T>C (p.His528=) c.1461T>C (p.His487=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81577959A>T | CA353684629 | GBE1 | c.1584T>A (p.His528Gln) c.1461T>A (p.His487Gln) | |
| 3 | g.81577960T>A | CA353684631 | GBE1 | c.1583A>T (p.His528Leu) c.1460A>T (p.His487Leu) | dbSNP gnomAD v4 |
| 3 | g.81577960T>C | CA353684632 | GBE1 | c.1583A>G (p.His528Arg) c.1460A>G (p.His487Arg) | gnomAD v4 |
| 3 | g.81577960T>G | CA353684633 | GBE1 | c.1583A>C (p.His528Pro) c.1460A>C (p.His487Pro) | |
| 3 | g.81577960T= | CA1378698127 | GBE1 | c.1583A= (p.His528=) c.1460A= (p.His487=) | |
| 3 | g.81577961G>A | CA353684634 | GBE1 | c.1582C>T (p.His528Tyr) c.1459C>T (p.His487Tyr) | |
| 3 | g.81577961G>C | CA353684635 | GBE1 | c.1582C>G (p.His528Asp) c.1459C>G (p.His487Asp) | |
| 3 | g.81577961G>T | CA353684636 | GBE1 | c.1582C>A (p.His528Asn) c.1459C>A (p.His487Asn) | |
| 3 | g.81577962C>A | CA434492279 | GBE1 | c.1581G>T (p.Thr527=) c.1458G>T (p.Thr486=) | ClinVar |
| 3 | g.81577962C= | CA1378698128 | GBE1 | c.1581G= (p.Thr527=) c.1458G= (p.Thr486=) | |
| 3 | g.81577962C>G | CA434492281 | GBE1 | c.1581G>C (p.Thr527=) c.1458G>C (p.Thr486=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81577962C>T | CA2499619 | GBE1 | c.1581G>A (p.Thr527=) c.1458G>A (p.Thr486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577963G>A | CA2499620 | GBE1 | c.1580C>T (p.Thr527Met) c.1457C>T (p.Thr486Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81577963G>C | CA353684637 | GBE1 | c.1580C>G (p.Thr527Arg) c.1457C>G (p.Thr486Arg) | |
| 3 | g.81577963G= | CA1378698129 | GBE1 | c.1580C= (p.Thr527=) c.1457C= (p.Thr486=) | |
| 3 | g.81577963G>T | CA353684638 | GBE1 | c.1580C>A (p.Thr527Lys) c.1457C>A (p.Thr486Lys) | |
| 3 | g.81577964T>A | CA353684639 | GBE1 | c.1579A>T (p.Thr527Ser) c.1456A>T (p.Thr486Ser) | |
| 3 | g.81577964T>C | CA2499621 | GBE1 | c.1579A>G (p.Thr527Ala) c.1456A>G (p.Thr486Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81577964T>G | CA353684640 | GBE1 | c.1579A>C (p.Thr527Pro) c.1456A>C (p.Thr486Pro) | |
| 3 | g.81577964T= | CA1378698130 | GBE1 | c.1579A= (p.Thr527=) c.1456A= (p.Thr486=) | |
| 3 | g.81577965A= | CA1378698131 | GBE1 | c.1578T= (p.Ile526=) c.1455T= (p.Ile485=) | |
| 3 | g.81577965A>C | CA353684641 | GBE1 | c.1578T>G (p.Ile526Met) c.1455T>G (p.Ile485Met) | |
| 3 | g.81577965A>G | CA434492296 | GBE1 | c.1578T>C (p.Ile526=) c.1455T>C (p.Ile485=) | |
| 3 | g.81577965A>T | CA434492298 | GBE1 | c.1578T>A (p.Ile526=) c.1455T>A (p.Ile485=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81577966A= | CA1378698132 | GBE1 | c.1577T= (p.Ile526=) c.1454T= (p.Ile485=) | |
| 3 | g.81577966A>C | CA353684643 | GBE1 | c.1577T>G (p.Ile526Ser) c.1454T>G (p.Ile485Ser) | |
| 3 | g.81577966A>G | CA353684642 | GBE1 | c.1577T>C (p.Ile526Thr) c.1454T>C (p.Ile485Thr) | dbSNP |
| 3 | g.81577966A>T | CA353684644 | GBE1 | c.1577T>A (p.Ile526Asn) c.1454T>A (p.Ile485Asn) | |
| 3 | g.81577967T>A | CA353684645 | GBE1 | c.1576A>T (p.Ile526Phe) c.1453A>T (p.Ile485Phe) | |
| 3 | g.81577967T>C | CA2499622 | GBE1 | c.1576A>G (p.Ile526Val) c.1453A>G (p.Ile485Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577967T>G | CA353684646 | GBE1 | c.1576A>C (p.Ile526Leu) c.1453A>C (p.Ile485Leu) | |
| 3 | g.81577967T= | CA1378698133 | GBE1 | c.1576A= (p.Ile526=) c.1453A= (p.Ile485=) | |
| 3 | g.81577968G>A | CA434492307 | GBE1 | c.1575C>T (p.Leu525=) c.1452C>T (p.Leu484=) | gnomAD v4 |
| 3 | g.81577968G>C | CA434492310 | GBE1 | c.1575C>G (p.Leu525=) c.1452C>G (p.Leu484=) | |
| 3 | g.81577968G>T | CA434492309 | GBE1 | c.1575C>A (p.Leu525=) c.1452C>A (p.Leu484=) | |
| 3 | g.81577969A>C | CA353684647 | GBE1 | c.1574T>G (p.Leu525Arg) c.1451T>G (p.Leu484Arg) | |
| 3 | g.81577969A>G | CA353684648 | GBE1 | c.1574T>C (p.Leu525Pro) c.1451T>C (p.Leu484Pro) | |
| 3 | g.81577969A>T | CA353684649 | GBE1 | c.1574T>A (p.Leu525His) c.1451T>A (p.Leu484His) | |
| 3 | g.81577970G>A | CA353684650 | GBE1 | c.1573C>T (p.Leu525Phe) c.1450C>T (p.Leu484Phe) | gnomAD v4 |
| 3 | g.81577970G>C | CA353684651 | GBE1 | c.1573C>G (p.Leu525Val) c.1450C>G (p.Leu484Val) | |
| 3 | g.81577970G>T | CA353684652 | GBE1 | c.1573C>A (p.Leu525Ile) c.1450C>A (p.Leu484Ile) | gnomAD v3 gnomAD v4 |
| 3 | g.81577971T>A | CA434492318 | GBE1 | c.1572A>T (p.Arg524=) c.1449A>T (p.Arg483=) | |
| 3 | g.81577971T>C | CA2499623 | GBE1 | c.1572A>G (p.Arg524=) c.1449A>G (p.Arg483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577971T>G | CA434492321 | GBE1 | c.1572A>C (p.Arg524=) c.1449A>C (p.Arg483=) | |
| 3 | g.81577971T= | CA1378698134 | GBE1 | c.1572A= (p.Arg524=) c.1449A= (p.Arg483=) | |
| 3 | g.81577972C>A | CA353684653 | GBE1 | c.1571G>T (p.Arg524Leu) c.1448G>T (p.Arg483Leu) | dbSNP |
| 3 | g.81577972C= | CA1378698135 | GBE1 | c.1571G= (p.Arg524=) c.1448G= (p.Arg483=) | |
| 3 | g.81577972C>G | CA353684654 | GBE1 | c.1571G>C (p.Arg524Pro) c.1448G>C (p.Arg483Pro) | |
| 3 | g.81577972C>T | CA115753 | GBE1 | c.1571G>A (p.Arg524Gln) c.1448G>A (p.Arg483Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 3 | g.81577973G>A | CA115751 | GBE1 | c.1570C>T (p.Arg524Ter) c.1447C>T (p.Arg483Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.81577973G>C | CA353684655 | GBE1 | c.1570C>G (p.Arg524Gly) c.1447C>G (p.Arg483Gly) | ClinVar dbSNP |
| 3 | g.81577973G= | CA1378698136 | GBE1 | c.1570C= (p.Arg524=) c.1447C= (p.Arg483=) | |
| 3 | g.81577973G>T | CA434492328 | GBE1 | c.1570C>A (p.Arg524=) c.1447C>A (p.Arg483=) | ClinVar |
| 3 | g.81577974A= | CA1378698137 | GBE1 | c.1569T= (p.Ile523=) c.1446T= (p.Ile482=) | |
| 3 | g.81577974A>C | CA353684656 | GBE1 | c.1569T>G (p.Ile523Met) c.1446T>G (p.Ile482Met) | |
| 3 | g.81577974A>G | CA434492332 | GBE1 | c.1569T>C (p.Ile523=) c.1446T>C (p.Ile482=) | ClinVar dbSNP |
| 3 | g.81577974A>T | CA434492335 | GBE1 | c.1569T>A (p.Ile523=) c.1446T>A (p.Ile482=) | dbSNP gnomAD v4 |
| 3 | g.81577975del | CA2740094527 | GBE1 | c.1569del (p.Arg524AspfsTer26) c.1446del (p.Arg483AspfsTer26) | ClinVar |
| 3 | g.81577975A>C | CA353684657 | GBE1 | c.1568T>G (p.Ile523Ser) c.1445T>G (p.Ile482Ser) | gnomAD v3 gnomAD v4 |
| 3 | g.81577975A>G | CA353684658 | GBE1 | c.1568T>C (p.Ile523Thr) c.1445T>C (p.Ile482Thr) | |
| 3 | g.81577975A>T | CA353684659 | GBE1 | c.1568T>A (p.Ile523Asn) c.1445T>A (p.Ile482Asn) | |
| 3 | g.81577976T>A | CA353684660 | GBE1 | c.1567A>T (p.Ile523Phe) c.1444A>T (p.Ile482Phe) | |
| 3 | g.81577976T>C | CA353684661 | GBE1 | c.1567A>G (p.Ile523Val) c.1444A>G (p.Ile482Val) | dbSNP |
| 3 | g.81577976T>G | CA2499624 | GBE1 | c.1567A>C (p.Ile523Leu) c.1444A>C (p.Ile482Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577976T= | CA1378698138 | GBE1 | c.1567A= (p.Ile523=) c.1444A= (p.Ile482=) | |
| 3 | g.81577977C>A | CA2499625 | GBE1 | c.1566G>T (p.Met522Ile) c.1443G>T (p.Met481Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577977C= | CA1378698139 | GBE1 | c.1566G= (p.Met522=) c.1443G= (p.Met481=) | |
| 3 | g.81577977C>G | CA353684662 | GBE1 | c.1566G>C (p.Met522Ile) c.1443G>C (p.Met481Ile) | |
| 3 | g.81577977C>T | CA353684663 | GBE1 | c.1566G>A (p.Met522Ile) c.1443G>A (p.Met481Ile) | |
| 3 | g.81577978A>C | CA353684664 | GBE1 | c.1565T>G (p.Met522Arg) c.1442T>G (p.Met481Arg) | |
| 3 | g.81577978A>G | CA353684665 | GBE1 | c.1565T>C (p.Met522Thr) c.1442T>C (p.Met481Thr) | |
| 3 | g.81577978A>T | CA353684666 | GBE1 | c.1565T>A (p.Met522Lys) c.1442T>A (p.Met481Lys) | |
| 3 | g.81577979T>A | CA353684667 | GBE1 | c.1564A>T (p.Met522Leu) c.1441A>T (p.Met481Leu) | |
| 3 | g.81577979T>C | CA353684669 | GBE1 | c.1564A>G (p.Met522Val) c.1441A>G (p.Met481Val) | |
| 3 | g.81577979T>G | CA353684668 | GBE1 | c.1564A>C (p.Met522Leu) c.1441A>C (p.Met481Leu) | dbSNP |
| 3 | g.81577979T= | CA1378698140 | GBE1 | c.1564A= (p.Met522=) c.1441A= (p.Met481=) | |
| 3 | g.81577980T>A | CA353684670 | GBE1 | c.1563A>T (p.Lys521Asn) c.1440A>T (p.Lys480Asn) | |
| 3 | g.81577980T>C | CA434492353 | GBE1 | c.1563A>G (p.Lys521=) c.1440A>G (p.Lys480=) | |
| 3 | g.81577980T>G | CA2499626 | GBE1 | c.1563A>C (p.Lys521Asn) c.1440A>C (p.Lys480Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81577980T= | CA1378698141 | GBE1 | c.1563A= (p.Lys521=) c.1440A= (p.Lys480=) | |
| 3 | g.81577981_81578006del | CA2580070446 | GBE1 | c.1538_1563del (p.Ile513AsnfsTer20) c.1415_1440del (p.Ile472AsnfsTer20) | ClinVar |
| 3 | g.81577981T>A | CA353684671 | GBE1 | c.1562A>T (p.Lys521Ile) c.1439A>T (p.Lys480Ile) | |
| 3 | g.81577981T>C | CA353684672 | GBE1 | c.1562A>G (p.Lys521Arg) c.1439A>G (p.Lys480Arg) | |
| 3 | g.81577981T>G | CA353684673 | GBE1 | c.1562A>C (p.Lys521Thr) c.1439A>C (p.Lys480Thr) | |
| 3 | g.81577982T>A | CA2499627 | GBE1 | c.1561A>T (p.Lys521Ter) c.1438A>T (p.Lys480Ter) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.81577982T>C | CA353684674 | GBE1 | c.1561A>G (p.Lys521Glu) c.1438A>G (p.Lys480Glu) | |
| 3 | g.81577982T>G | CA353684675 | GBE1 | c.1561A>C (p.Lys521Gln) c.1438A>C (p.Lys480Gln) | |
| 3 | g.81577982T= | CA1378698142 | GBE1 | c.1561A= (p.Lys521=) c.1438A= (p.Lys480=) | |
| 3 | g.81577983A>C | CA353684676 | GBE1 | c.1560T>G (p.His520Gln) c.1437T>G (p.His479Gln) | |
| 3 | g.81577983A>G | CA434492362 | GBE1 | c.1560T>C (p.His520=) c.1437T>C (p.His479=) | |
| 3 | g.81577983A>T | CA353684677 | GBE1 | c.1560T>A (p.His520Gln) c.1437T>A (p.His479Gln) | |
| 3 | g.81577984T>A | CA353684678 | GBE1 | c.1559A>T (p.His520Leu) c.1436A>T (p.His479Leu) | |
| 3 | g.81577984T>C | CA353684679 | GBE1 | c.1559A>G (p.His520Arg) c.1436A>G (p.His479Arg) | gnomAD v4 |
| 3 | g.81577984T>G | CA353684680 | GBE1 | c.1559A>C (p.His520Pro) c.1436A>C (p.His479Pro) | |
| 3 | g.81577985G>A | CA353684683 | GBE1 | c.1558C>T (p.His520Tyr) c.1435C>T (p.His479Tyr) | |
| 3 | g.81577985G>C | CA353684681 | GBE1 | c.1558C>G (p.His520Asp) c.1435C>G (p.His479Asp) | |
| 3 | g.81577985G>T | CA353684682 | GBE1 | c.1558C>A (p.His520Asn) c.1435C>A (p.His479Asn) | |
| 3 | g.81577986A>C | CA434492371 | GBE1 | c.1557T>G (p.Leu519=) c.1434T>G (p.Leu478=) | |
| 3 | g.81577986A>G | CA434492375 | GBE1 | c.1557T>C (p.Leu519=) c.1434T>C (p.Leu478=) | |
| 3 | g.81577986A>T | CA434492373 | GBE1 | c.1557T>A (p.Leu519=) c.1434T>A (p.Leu478=) | |
| 3 | g.81577987A= | CA1378698143 | GBE1 | c.1556T= (p.Leu519=) c.1433T= (p.Leu478=) | |
| 3 | g.81577987A>C | CA353684684 | GBE1 | c.1556T>G (p.Leu519Arg) c.1433T>G (p.Leu478Arg) | dbSNP |
| 3 | g.81577987A>G | CA353684685 | GBE1 | c.1556T>C (p.Leu519Pro) c.1433T>C (p.Leu478Pro) | dbSNP |
| 3 | g.81577987A>T | CA353684686 | GBE1 | c.1556T>A (p.Leu519His) c.1433T>A (p.Leu478His) | |
| 3 | g.81577988G>A | CA353684687 | GBE1 | c.1555C>T (p.Leu519Phe) c.1432C>T (p.Leu478Phe) | |
| 3 | g.81577988G>C | CA353684688 | GBE1 | c.1555C>G (p.Leu519Val) c.1432C>G (p.Leu478Val) | |
| 3 | g.81577988G>T | CA353684689 | GBE1 | c.1555C>A (p.Leu519Ile) c.1432C>A (p.Leu478Ile) | |
| 3 | g.81577989C>A | CA353684690 | GBE1 | c.1554G>T (p.Gln518His) c.1431G>T (p.Gln477His) | |
| 3 | g.81577989C>G | CA353684691 | GBE1 | c.1554G>C (p.Gln518His) c.1431G>C (p.Gln477His) | |
| 3 | g.81577989C>T | CA434492386 | GBE1 | c.1554G>A (p.Gln518=) c.1431G>A (p.Gln477=) | ClinVar gnomAD v4 |
| 3 | g.81577990T>A | CA353684692 | GBE1 | c.1553A>T (p.Gln518Leu) c.1430A>T (p.Gln477Leu) | |
| 3 | g.81577990T>C | CA353684693 | GBE1 | c.1553A>G (p.Gln518Arg) c.1430A>G (p.Gln477Arg) | dbSNP |
| 3 | g.81577990T>G | CA353684694 | GBE1 | c.1553A>C (p.Gln518Pro) c.1430A>C (p.Gln477Pro) | |
| 3 | g.81577990T= | CA1378698144 | GBE1 | c.1553A= (p.Gln518=) c.1430A= (p.Gln477=) | |
| 3 | g.81577991G>A | CA353684695 | GBE1 | c.1552C>T (p.Gln518Ter) c.1429C>T (p.Gln477Ter) | |
| 3 | g.81577991G>C | CA353684697 | GBE1 | c.1552C>G (p.Gln518Glu) c.1429C>G (p.Gln477Glu) | |
| 3 | g.81577991G>T | CA353684696 | GBE1 | c.1552C>A (p.Gln518Lys) c.1429C>A (p.Gln477Lys) | |
| 3 | g.81577992T>A | CA434492396 | GBE1 | c.1551A>T (p.Ile517=) c.1428A>T (p.Ile476=) | |
| 3 | g.81577992T>C | CA353684698 | GBE1 | c.1551A>G (p.Ile517Met) c.1428A>G (p.Ile476Met) | |
| 3 | g.81577992T>G | CA434492399 | GBE1 | c.1551A>C (p.Ile517=) c.1428A>C (p.Ile476=) | |
| 3 | g.81577993A>C | CA353684701 | GBE1 | c.1550T>G (p.Ile517Arg) c.1427T>G (p.Ile476Arg) | |
| 3 | g.81577993A>G | CA353684699 | GBE1 | c.1550T>C (p.Ile517Thr) c.1427T>C (p.Ile476Thr) | |
| 3 | g.81577993A>T | CA353684700 | GBE1 | c.1550T>A (p.Ile517Lys) c.1427T>A (p.Ile476Lys) | |
| 3 | g.81577994T>A | CA353684702 | GBE1 | c.1549A>T (p.Ile517Leu) c.1426A>T (p.Ile476Leu) | |
| 3 | g.81577994T>C | CA353684703 | GBE1 | c.1549A>G (p.Ile517Val) c.1426A>G (p.Ile476Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81577994T>G | CA353684704 | GBE1 | c.1549A>C (p.Ile517Leu) c.1426A>C (p.Ile476Leu) | |
| 3 | g.81577994T= | CA1378698145 | GBE1 | c.1549A= (p.Ile517=) c.1426A= (p.Ile476=) | |
| 3 | g.81577995T>A | CA434492412 | GBE1 | c.1548A>T (p.Gly516=) c.1425A>T (p.Gly475=) | ClinVar gnomAD v4 |
| 3 | g.81577995T>C | CA434492408 | GBE1 | c.1548A>G (p.Gly516=) c.1425A>G (p.Gly475=) | |
| 3 | g.81577995T>G | CA434492410 | GBE1 | c.1548A>C (p.Gly516=) c.1425A>C (p.Gly475=) | |
| 3 | g.81577996C>A | CA353684707 | GBE1 | c.1547G>T (p.Gly516Val) c.1424G>T (p.Gly475Val) | |
| 3 | g.81577996C>G | CA353684706 | GBE1 | c.1547G>C (p.Gly516Ala) c.1424G>C (p.Gly475Ala) | |
| 3 | g.81577996C>T | CA353684705 | GBE1 | c.1547G>A (p.Gly516Glu) c.1424G>A (p.Gly475Glu) | |
| 3 | g.81577997C>A | CA353684708 | GBE1 | c.1546G>T (p.Gly516Ter) c.1423G>T (p.Gly475Ter) | |
| 3 | g.81577997C>G | CA353684709 | GBE1 | c.1546G>C (p.Gly516Arg) c.1423G>C (p.Gly475Arg) | |
| 3 | g.81577997C>T | CA353684710 | GBE1 | c.1546G>A (p.Gly516Arg) c.1423G>A (p.Gly475Arg) | |
| 3 | g.81577998A= | CA1378698146 | GBE1 | c.1545T= (p.Arg515=) c.1422T= (p.Arg474=) | |
| 3 | g.81577998A>C | CA434492419 | GBE1 | c.1545T>G (p.Arg515=) c.1422T>G (p.Arg474=) | |
| 3 | g.81577998A>G | CA434492421 | GBE1 | c.1545T>C (p.Arg515=) c.1422T>C (p.Arg474=) | ClinVar dbSNP |
| 3 | g.81577998A>T | CA434492423 | GBE1 | c.1545T>A (p.Arg515=) c.1422T>A (p.Arg474=) |