Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.81577981_81578006del | CA2580070446 | GBE1 | c.1538_1563del (p.Ile513AsnfsTer20) c.1415_1440del (p.Ile472AsnfsTer20) | ClinVar |
3 | g.81578000G>A | CA115747 | GBE1 | c.1543C>T (p.Arg515Cys) c.1420C>T (p.Arg474Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81578000G>C | CA353684713 | GBE1 | c.1543C>G (p.Arg515Gly) c.1420C>G (p.Arg474Gly) | |
3 | g.81578000G= | CA1378698148 | GBE1 | c.1543C= (p.Arg515=) c.1420C= (p.Arg474=) | |
3 | g.81578000G>T | CA353684714 | GBE1 | c.1543C>A (p.Arg515Ser) c.1420C>A (p.Arg474Ser) | gnomAD v4 |
3 | g.81578001A>C | CA353684715 | GBE1 | c.1542T>G (p.Asp514Glu) c.1419T>G (p.Asp473Glu) | |
3 | g.81578001A>G | CA434492432 | GBE1 | c.1542T>C (p.Asp514=) c.1419T>C (p.Asp473=) | |
3 | g.81578001A>T | CA353684716 | GBE1 | c.1542T>A (p.Asp514Glu) c.1419T>A (p.Asp473Glu) | |
3 | g.81578002T>A | CA353684717 | GBE1 | c.1541A>T (p.Asp514Val) c.1418A>T (p.Asp473Val) | |
3 | g.81578002T>C | CA353684718 | GBE1 | c.1541A>G (p.Asp514Gly) c.1418A>G (p.Asp473Gly) | dbSNP gnomAD v2 |
3 | g.81578002T>G | CA353684719 | GBE1 | c.1541A>C (p.Asp514Ala) c.1418A>C (p.Asp473Ala) | |
3 | g.81578002T= | CA1378698149 | GBE1 | c.1541A= (p.Asp514=) c.1418A= (p.Asp473=) | |
3 | g.81578003C>A | CA353684720 | GBE1 | c.1540G>T (p.Asp514Tyr) c.1417G>T (p.Asp473Tyr) | |
3 | g.81578003C>G | CA353684721 | GBE1 | c.1540G>C (p.Asp514His) c.1417G>C (p.Asp473His) | |
3 | g.81578003C>T | CA353684722 | GBE1 | c.1540G>A (p.Asp514Asn) c.1417G>A (p.Asp473Asn) | |
3 | g.81578004A>C | CA353684723 | GBE1 | c.1539T>G (p.Ile513Met) c.1416T>G (p.Ile472Met) | |
3 | g.81578004A>G | CA434492442 | GBE1 | c.1539T>C (p.Ile513=) c.1416T>C (p.Ile472=) | |
3 | g.81578004A>T | CA434492445 | GBE1 | c.1539T>A (p.Ile513=) c.1416T>A (p.Ile472=) | |
3 | g.81578005A>C | CA353684724 | GBE1 | c.1538T>G (p.Ile513Ser) c.1415T>G (p.Ile472Ser) | |
3 | g.81578005A>G | CA353684725 | GBE1 | c.1538T>C (p.Ile513Thr) c.1415T>C (p.Ile472Thr) | |
3 | g.81578005A>T | CA353684726 | GBE1 | c.1538T>A (p.Ile513Asn) c.1415T>A (p.Ile472Asn) | |
3 | g.81578006T>A | CA353684727 | GBE1 | c.1537A>T (p.Ile513Phe) c.1414A>T (p.Ile472Phe) | gnomAD v4 |
3 | g.81578006T>C | CA78284838 | GBE1 | c.1537A>G (p.Ile513Val) c.1414A>G (p.Ile472Val) | dbSNP gnomAD v4 |
3 | g.81578006T>G | CA353684728 | GBE1 | c.1537A>C (p.Ile513Leu) c.1414A>C (p.Ile472Leu) | |
3 | g.81578006T= | CA1378698150 | GBE1 | c.1537A= (p.Ile513=) c.1414A= (p.Ile472=) | |
3 | g.81578007A>C | CA434492454 | GBE1 | c.1536T>G (p.Val512=) c.1413T>G (p.Val471=) | |
3 | g.81578007A>G | CA434492455 | GBE1 | c.1536T>C (p.Val512=) c.1413T>C (p.Val471=) | |
3 | g.81578007A>T | CA434492457 | GBE1 | c.1536T>A (p.Val512=) c.1413T>A (p.Val471=) | |
3 | g.81578008A>C | CA353684729 | GBE1 | c.1535T>G (p.Val512Gly) c.1412T>G (p.Val471Gly) | |
3 | g.81578008A>G | CA353684730 | GBE1 | c.1535T>C (p.Val512Ala) c.1412T>C (p.Val471Ala) | |
3 | g.81578008A>T | CA353684731 | GBE1 | c.1535T>A (p.Val512Asp) c.1412T>A (p.Val471Asp) | |
3 | g.81578009C>A | CA353684732 | GBE1 | c.1534G>T (p.Val512Phe) c.1411G>T (p.Val471Phe) | |
3 | g.81578009C= | CA1378698151 | GBE1 | c.1534G= (p.Val512=) c.1411G= (p.Val471=) | |
3 | g.81578009C>G | CA2499628 | GBE1 | c.1534G>C (p.Val512Leu) c.1411G>C (p.Val471Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81578009C>T | CA353684733 | GBE1 | c.1534G>A (p.Val512Ile) c.1411G>A (p.Val471Ile) | |
3 | g.81578010del | CA2666621162 | GBE1 | c.1533del (p.Val512LeufsTer11) c.1410del (p.Val471LeufsTer11) | gnomAD v4 |
3 | g.81578010T>A | CA434492464 | GBE1 | c.1533A>T (p.Pro511=) c.1410A>T (p.Pro470=) | dbSNP gnomAD v4 |
3 | g.81578010T>C | CA2499629 | GBE1 | c.1533A>G (p.Pro511=) c.1410A>G (p.Pro470=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81578010T>G | CA434492467 | GBE1 | c.1533A>C (p.Pro511=) c.1410A>C (p.Pro470=) | |
3 | g.81578010T= | CA1378698152 | GBE1 | c.1533A= (p.Pro511=) c.1410A= (p.Pro470=) | |
3 | g.81578011G>A | CA353684734 | GBE1 | c.1532C>T (p.Pro511Leu) c.1409C>T (p.Pro470Leu) | COSMIC COSMIC |
3 | g.81578011G>C | CA353684735 | GBE1 | c.1532C>G (p.Pro511Arg) c.1409C>G (p.Pro470Arg) | |
3 | g.81578011G>T | CA353684736 | GBE1 | c.1532C>A (p.Pro511Gln) c.1409C>A (p.Pro470Gln) | |
3 | g.81578012G>A | CA353684737 | GBE1 | c.1531C>T (p.Pro511Ser) c.1408C>T (p.Pro470Ser) | |
3 | g.81578012G>C | CA353684738 | GBE1 | c.1531C>G (p.Pro511Ala) c.1408C>G (p.Pro470Ala) | |
3 | g.81578012G>T | CA353684739 | GBE1 | c.1531C>A (p.Pro511Thr) c.1408C>A (p.Pro470Thr) | |
3 | g.81578013A>C | CA434492477 | GBE1 | c.1530T>G (p.Thr510=) c.1407T>G (p.Thr469=) | |
3 | g.81578013A>G | CA434492478 | GBE1 | c.1530T>C (p.Thr510=) c.1407T>C (p.Thr469=) | gnomAD v4 |
3 | g.81578013A>T | CA434492480 | GBE1 | c.1530T>A (p.Thr510=) c.1407T>A (p.Thr469=) | |
3 | g.81578014G>A | CA2499630 | GBE1 | c.1529C>T (p.Thr510Ile) c.1406C>T (p.Thr469Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |