Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
3 | g.81578014G>C | CA353684741 | GBE1 | c.1529C>G (p.Thr510Ser) c.1406C>G (p.Thr469Ser) | |
3 | g.81578014G= | CA1378698153 | GBE1 | c.1529C= (p.Thr510=) c.1406C= (p.Thr469=) | |
3 | g.81578014G>T | CA353684740 | GBE1 | c.1529C>A (p.Thr510Asn) c.1406C>A (p.Thr469Asn) | |
3 | g.81578015T>A | CA2499631 | GBE1 | c.1528A>T (p.Thr510Ser) c.1405A>T (p.Thr469Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.81578015T>C | CA353684742 | GBE1 | c.1528A>G (p.Thr510Ala) c.1405A>G (p.Thr469Ala) | |
3 | g.81578015T>G | CA353684743 | GBE1 | c.1528A>C (p.Thr510Pro) c.1405A>C (p.Thr469Pro) | |
3 | g.81578015T= | CA1378698154 | GBE1 | c.1528A= (p.Thr510=) c.1405A= (p.Thr469=) | |
3 | g.81578016A= | CA1378698155 | GBE1 | c.1527T= (p.Phe509=) c.1404T= (p.Phe468=) | |
3 | g.81578016A>C | CA353684744 | GBE1 | c.1527T>G (p.Phe509Leu) c.1404T>G (p.Phe468Leu) | dbSNP |
3 | g.81578016A>G | CA434492489 | GBE1 | c.1527T>C (p.Phe509=) c.1404T>C (p.Phe468=) | |
3 | g.81578016A>T | CA353684745 | GBE1 | c.1527T>A (p.Phe509Leu) c.1404T>A (p.Phe468Leu) | |
3 | g.81578019del | CA2666621163 | GBE1 | c.1527del (p.Phe509LeufsTer14) c.1404del (p.Phe468LeufsTer14) | gnomAD v4 |
3 | g.81578017A>C | CA353684746 | GBE1 | c.1526T>G (p.Phe509Cys) c.1403T>G (p.Phe468Cys) | |
3 | g.81578017A>G | CA353684747 | GBE1 | c.1526T>C (p.Phe509Ser) c.1403T>C (p.Phe468Ser) | |
3 | g.81578017A>T | CA353684748 | GBE1 | c.1526T>A (p.Phe509Tyr) c.1403T>A (p.Phe468Tyr) | |
3 | g.81578018A= | CA1378698156 | GBE1 | c.1525T= (p.Phe509=) c.1402T= (p.Phe468=) | |
3 | g.81578018A>C | CA353684749 | GBE1 | c.1525T>G (p.Phe509Val) c.1402T>G (p.Phe468Val) | |
3 | g.81578018A>G | CA2499632 | GBE1 | c.1525T>C (p.Phe509Leu) c.1402T>C (p.Phe468Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81578018A>T | CA353684750 | GBE1 | c.1525T>A (p.Phe509Ile) c.1402T>A (p.Phe468Ile) | |
3 | g.81578019A>C | CA434492500 | GBE1 | c.1524T>G (p.Pro508=) c.1401T>G (p.Pro467=) | |
3 | g.81578019A>G | CA434492502 | GBE1 | c.1524T>C (p.Pro508=) c.1401T>C (p.Pro467=) | gnomAD v4 |
3 | g.81578019A>T | CA434492504 | GBE1 | c.1524T>A (p.Pro508=) c.1401T>A (p.Pro467=) | |
3 | g.81578020G>A | CA353684753 | GBE1 | c.1523C>T (p.Pro508Leu) c.1400C>T (p.Pro467Leu) | |
3 | g.81578020G>C | CA353684752 | GBE1 | c.1523C>G (p.Pro508Arg) c.1400C>G (p.Pro467Arg) | |
3 | g.81578020G>T | CA353684751 | GBE1 | c.1523C>A (p.Pro508His) c.1400C>A (p.Pro467His) | |
3 | g.81578021G>A | CA353684754 | GBE1 | c.1522C>T (p.Pro508Ser) c.1399C>T (p.Pro467Ser) | |
3 | g.81578021G>C | CA2499633 | GBE1 | c.1522C>G (p.Pro508Ala) c.1399C>G (p.Pro467Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.81578021G= | CA1378698157 | GBE1 | c.1522C= (p.Pro508=) c.1399C= (p.Pro467=) |