| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.81705413A>G | CA2666607764 | GBE1 | c.313+31T>C (n.313+31T>C) c.190+31T>C (n.190+31T>C) | gnomAD v4 |
| 3 | g.81705413A>T | CA2666607765 | GBE1 | c.313+31T>A (n.313+31T>A) c.190+31T>A (n.190+31T>A) | gnomAD v4 |
| 3 | g.81705413dup | CA2666607763 | GBE1 | c.313+31dup (n.313+31dup) c.190+31dup (n.190+31dup) | gnomAD v4 |
| 3 | g.81705414C>A | CA2666607766 | GBE1 | c.313+30G>T (n.313+30G>T) c.190+30G>T (n.190+30G>T) | gnomAD v4 |
| 3 | g.81705414C>T | CA2666607767 | GBE1 | c.313+30G>A (n.313+30G>A) c.190+30G>A (n.190+30G>A) | gnomAD v4 |
| 3 | g.81705415T>A | CA1378760018 | GBE1 | c.313+29A>T (n.313+29A>T) c.190+29A>T (n.190+29A>T) | dbSNP |
| 3 | g.81705415T= | CA1378760017 | GBE1 | c.313+29A= (n.313+29A=) c.190+29A= (n.190+29A=) | |
| 3 | g.81705416A>C | CA2577825983 | GBE1 | c.313+28T>G (n.313+28T>G) c.190+28T>G (n.190+28T>G) | |
| 3 | g.81705416A>G | CA2577825982 | GBE1 | c.313+28T>C (n.313+28T>C) c.190+28T>C (n.190+28T>C) | |
| 3 | g.81705416_81705418delinsATT | CA1378760020 | GBE1 | c.313+26_313+28delinsAAT (n.313+26_313+28delinsAAT) c.190+26_190+28delinsAAT (n.190+26_190+28delinsAAT) | |
| 3 | g.81705417T>C | CA544502745 | GBE1 | c.313+27A>G (n.313+27A>G) c.190+27A>G (n.190+27A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705417T= | CA1378760024 | GBE1 | c.313+27A= (n.313+27A=) c.190+27A= (n.190+27A=) | |
| 3 | g.81705418_81705419del | CA544502744 | GBE1 | c.313+26_313+27del (n.313+26_313+27del) c.190+26_190+27del (n.190+26_190+27del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705418T>C | CA2666607768 | GBE1 | c.313+26A>G (n.313+26A>G) c.190+26A>G (n.190+26A>G) | gnomAD v4 |
| 3 | g.81705419T>C | CA2666607769 | GBE1 | c.313+25A>G (n.313+25A>G) c.190+25A>G (n.190+25A>G) | gnomAD v4 |
| 3 | g.81705420A>G | CA2666607770 | GBE1 | c.313+24T>C (n.313+24T>C) c.190+24T>C (n.190+24T>C) | gnomAD v4 |
| 3 | g.81705420A>T | CA2666607771 | GBE1 | c.313+24T>A (n.313+24T>A) c.190+24T>A (n.190+24T>A) | gnomAD v4 |
| 3 | g.81705421G>A | CA2500013 | GBE1 | c.313+23C>T (n.313+23C>T) c.190+23C>T (n.190+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705421G= | CA1378760026 | GBE1 | c.313+23C= (n.313+23C=) c.190+23C= (n.190+23C=) | |
| 3 | g.81705421G>T | CA2666607772 | GBE1 | c.313+23C>A (n.313+23C>A) c.190+23C>A (n.190+23C>A) | gnomAD v4 |
| 3 | g.81705423T>C | CA2666607773 | GBE1 | c.313+21A>G (n.313+21A>G) c.190+21A>G (n.190+21A>G) | gnomAD v4 |
| 3 | g.81705424C>A | CA2580070447 | GBE1 | c.313+20G>T (n.313+20G>T) c.190+20G>T (n.190+20G>T) | ClinVar gnomAD v4 |
| 3 | g.81705424C>T | CA2666607774 | GBE1 | c.313+20G>A (n.313+20G>A) c.190+20G>A (n.190+20G>A) | gnomAD v4 |
| 3 | g.81705426A= | CA1378760029 | GBE1 | c.313+18T= (n.313+18T=) c.190+18T= (n.190+18T=) | |
| 3 | g.81705426A>C | CA78298506 | GBE1 | c.313+18T>G (n.313+18T>G) c.190+18T>G (n.190+18T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.81705426A>G | CA78298507 | GBE1 | c.313+18T>C (n.313+18T>C) c.190+18T>C (n.190+18T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705427T>A | CA2740094514 | GBE1 | c.313+17A>T (n.313+17A>T) c.190+17A>T (n.190+17A>T) | ClinVar |
| 3 | g.81705427T>C | CA2500015 | GBE1 | c.313+17A>G (n.313+17A>G) c.190+17A>G (n.190+17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705427T= | CA1378760032 | GBE1 | c.313+17A= (n.313+17A=) c.190+17A= (n.190+17A=) | |
| 3 | g.81705427_81705428dup | CA2500014 | GBE1 | c.313+16_313+17dup (n.313+16_313+17dup) c.190+16_190+17dup (n.190+16_190+17dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705428G>A | CA2666607775 | GBE1 | c.313+16C>T (n.313+16C>T) c.190+16C>T (n.190+16C>T) | gnomAD v4 |
| 3 | g.81705428G>T | CA2666607776 | GBE1 | c.313+16C>A (n.313+16C>A) c.190+16C>A (n.190+16C>A) | gnomAD v4 |
| 3 | g.81705429C>A | CA2666607777 | GBE1 | c.313+15G>T (n.313+15G>T) c.190+15G>T (n.190+15G>T) | gnomAD v4 |
| 3 | g.81705429C= | CA1378760038 | GBE1 | c.313+15G= (n.313+15G=) c.190+15G= (n.190+15G=) | |
| 3 | g.81705429C>T | CA2500016 | GBE1 | c.313+15G>A (n.313+15G>A) c.190+15G>A (n.190+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705430T>C | CA911028103 | GBE1 | c.313+14A>G (n.313+14A>G) c.190+14A>G (n.190+14A>G) | dbSNP |
| 3 | g.81705430T= | CA1378760039 | GBE1 | c.313+14A= (n.313+14A=) c.190+14A= (n.190+14A=) | |
| 3 | g.81705431T>A | CA2666607778 | GBE1 | c.313+13A>T (n.313+13A>T) c.190+13A>T (n.190+13A>T) | gnomAD v4 |
| 3 | g.81705431T>C | CA2666607779 | GBE1 | c.313+13A>G (n.313+13A>G) c.190+13A>G (n.190+13A>G) | gnomAD v4 |
| 3 | g.81705433C>T | CA2666607780 | GBE1 | c.313+11G>A (n.313+11G>A) c.190+11G>A (n.190+11G>A) | gnomAD v4 |
| 3 | g.81705434A>G | CA2666607781 | GBE1 | c.313+10T>C (n.313+10T>C) c.190+10T>C (n.190+10T>C) | gnomAD v4 |
| 3 | g.81705435dup | CA2573137467 | GBE1 | c.313+10dup (n.313+10dup) c.190+10dup (n.190+10dup) | ClinVar dbSNP |
| 3 | g.81705435A= | CA1378760040 | GBE1 | c.313+9T= (n.313+9T=) c.190+9T= (n.190+9T=) | |
| 3 | g.81705435A>G | CA2500017 | GBE1 | c.313+9T>C (n.313+9T>C) c.190+9T>C (n.190+9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705436G>A | CA2500018 | GBE1 | c.313+8C>T (n.313+8C>T) c.190+8C>T (n.190+8C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705436G>C | CA544502746 | GBE1 | c.313+8C>G (n.313+8C>G) c.190+8C>G (n.190+8C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705436G= | CA1378760043 | GBE1 | c.313+8C= (n.313+8C=) c.190+8C= (n.190+8C=) | |
| 3 | g.81705436G>T | CA2666607782 | GBE1 | c.313+8C>A (n.313+8C>A) c.190+8C>A (n.190+8C>A) | gnomAD v4 |
| 3 | g.81705438A>G | CA2666607783 | GBE1 | c.313+6T>C (n.313+6T>C) c.190+6T>C (n.190+6T>C) | gnomAD v4 |
| 3 | g.81705439C>A | CA2666607784 | GBE1 | c.313+5G>T (n.313+5G>T) c.190+5G>T (n.190+5G>T) | gnomAD v4 |
| 3 | g.81705440T>C | CA2500019 | GBE1 | c.313+4A>G (n.313+4A>G) c.190+4A>G (n.190+4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705440T>G | CA2666607785 | GBE1 | c.313+4A>C (n.313+4A>C) c.190+4A>C (n.190+4A>C) | gnomAD v4 |
| 3 | g.81705440T= | CA1378760047 | GBE1 | c.313+4A= (n.313+4A=) c.190+4A= (n.190+4A=) | |
| 3 | g.81705441T>A | CA2500020 | GBE1 | c.313+3A>T (n.313+3A>T) c.190+3A>T (n.190+3A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.81705441T= | CA1378760049 | GBE1 | c.313+3A= (n.313+3A=) c.190+3A= (n.190+3A=) | |
| 3 | g.81705442del | CA2666607786 | GBE1 | c.313+2del (n.313+2del) c.190+2del (n.190+2del) | gnomAD v4 |
| 3 | g.81705442A>C | CA353687594 | GBE1 | c.313+2T>G (n.313+2T>G) c.190+2T>G (n.190+2T>G) | |
| 3 | g.81705442A>G | CA353687592 | GBE1 | c.313+2T>C (n.313+2T>C) c.190+2T>C (n.190+2T>C) | gnomAD v4 |
| 3 | g.81705442A>T | CA353687593 | GBE1 | c.313+2T>A (n.313+2T>A) c.190+2T>A (n.190+2T>A) | |
| 3 | g.81705443C>A | CA353687595 | GBE1 | c.313+1G>T (n.313+1G>T) c.190+1G>T (n.190+1G>T) | |
| 3 | g.81705443C>G | CA353687596 | GBE1 | c.313+1G>C (n.313+1G>C) c.190+1G>C (n.190+1G>C) | |
| 3 | g.81705443C>T | CA353687597 | GBE1 | c.313+1G>A (n.313+1G>A) c.190+1G>A (n.190+1G>A) | |
| 3 | g.81705444T>A | CA353687598 | GBE1 | c.313A>T (p.Asn105Tyr) c.190A>T (p.Asn64Tyr) | |
| 3 | g.81705444T>C | CA353687599 | GBE1 | c.313A>G (p.Asn105Asp) c.190A>G (p.Asn64Asp) | gnomAD v4 |
| 3 | g.81705444T>G | CA353687600 | GBE1 | c.313A>C (p.Asn105His) c.190A>C (p.Asn64His) | |
| 3 | g.81705444_81705446delinsCAG | CA2573052246 | GBE1 | c.311_313delinsCTG (p.Phe104_Asn105delinsSerAsp) c.188_190delinsCTG (p.Phe63_Asn64delinsSerAsp) | ClinVar dbSNP |
| 3 | g.81705445A>C | CA353687601 | GBE1 | c.312T>G (p.Phe104Leu) c.189T>G (p.Phe63Leu) | |
| 3 | g.81705445A>G | CA434495255 | GBE1 | c.312T>C (p.Phe104=) c.189T>C (p.Phe63=) | gnomAD v4 |
| 3 | g.81705445A>T | CA353687602 | GBE1 | c.312T>A (p.Phe104Leu) c.189T>A (p.Phe63Leu) | gnomAD v4 |
| 3 | g.81705446A>C | CA353687603 | GBE1 | c.311T>G (p.Phe104Cys) c.188T>G (p.Phe63Cys) | |
| 3 | g.81705446A>G | CA353687604 | GBE1 | c.311T>C (p.Phe104Ser) c.188T>C (p.Phe63Ser) | gnomAD v4 |
| 3 | g.81705446A>T | CA353687605 | GBE1 | c.311T>A (p.Phe104Tyr) c.188T>A (p.Phe63Tyr) | |
| 3 | g.81705447A>C | CA353687608 | GBE1 | c.310T>G (p.Phe104Val) c.187T>G (p.Phe63Val) | |
| 3 | g.81705447A>G | CA353687606 | GBE1 | c.310T>C (p.Phe104Leu) c.187T>C (p.Phe63Leu) | gnomAD v4 |
| 3 | g.81705447A>T | CA353687607 | GBE1 | c.310T>A (p.Phe104Ile) c.187T>A (p.Phe63Ile) | |
| 3 | g.81705448A>C | CA353687609 | GBE1 | c.309T>G (p.Asp103Glu) c.186T>G (p.Asp62Glu) | gnomAD v4 |
| 3 | g.81705448A>G | CA434495278 | GBE1 | c.309T>C (p.Asp103=) c.186T>C (p.Asp62=) | ClinVar dbSNP |
| 3 | g.81705448A>T | CA353687610 | GBE1 | c.309T>A (p.Asp103Glu) c.186T>A (p.Asp62Glu) | |
| 3 | g.81705449T>A | CA353687611 | GBE1 | c.308A>T (p.Asp103Val) c.185A>T (p.Asp62Val) | |
| 3 | g.81705449T>C | CA353687612 | GBE1 | c.308A>G (p.Asp103Gly) c.185A>G (p.Asp62Gly) | |
| 3 | g.81705449T>G | CA353687613 | GBE1 | c.308A>C (p.Asp103Ala) c.185A>C (p.Asp62Ala) | |
| 3 | g.81705450C>A | CA353687614 | GBE1 | c.307G>T (p.Asp103Tyr) c.184G>T (p.Asp62Tyr) | gnomAD v4 |
| 3 | g.81705450C>G | CA353687615 | GBE1 | c.307G>C (p.Asp103His) c.184G>C (p.Asp62His) | |
| 3 | g.81705450C>T | CA353687616 | GBE1 | c.307G>A (p.Asp103Asn) c.184G>A (p.Asp62Asn) | gnomAD v4 |
| 3 | g.81705451T>A | CA434495297 | GBE1 | c.306A>T (p.Gly102=) c.183A>T (p.Gly61=) | |
| 3 | g.81705451T>C | CA434495299 | GBE1 | c.306A>G (p.Gly102=) c.183A>G (p.Gly61=) | dbSNP gnomAD v4 |
| 3 | g.81705451T>G | CA434495302 | GBE1 | c.306A>C (p.Gly102=) c.183A>C (p.Gly61=) | |
| 3 | g.81705451T= | CA1378760052 | GBE1 | c.306A= (p.Gly102=) c.183A= (p.Gly61=) | |
| 3 | g.81705452C>A | CA353687617 | GBE1 | c.305G>T (p.Gly102Val) c.182G>T (p.Gly61Val) | |
| 3 | g.81705452C>G | CA353687618 | GBE1 | c.305G>C (p.Gly102Ala) c.182G>C (p.Gly61Ala) | gnomAD v4 |
| 3 | g.81705452C>T | CA353687619 | GBE1 | c.305G>A (p.Gly102Glu) c.182G>A (p.Gly61Glu) | gnomAD v4 |
| 3 | g.81705453C>A | CA353687622 | GBE1 | c.304G>T (p.Gly102Ter) c.181G>T (p.Gly61Ter) | gnomAD v4 |
| 3 | g.81705453C= | CA1378760055 | GBE1 | c.304G= (p.Gly102=) c.181G= (p.Gly61=) | |
| 3 | g.81705453C>G | CA353687621 | GBE1 | c.304G>C (p.Gly102Arg) c.181G>C (p.Gly61Arg) | gnomAD v4 |
| 3 | g.81705453C>T | CA353687620 | GBE1 | c.304G>A (p.Gly102Arg) c.181G>A (p.Gly61Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.81705454A>C | CA434495318 | GBE1 | c.303T>G (p.Thr101=) c.180T>G (p.Thr60=) | |
| 3 | g.81705454A>G | CA434495320 | GBE1 | c.303T>C (p.Thr101=) c.180T>C (p.Thr60=) | ClinVar dbSNP |
| 3 | g.81705454A>T | CA434495322 | GBE1 | c.303T>A (p.Thr101=) c.180T>A (p.Thr60=) | |
| 3 | g.81705455G>A | CA353687623 | GBE1 | c.302C>T (p.Thr101Ile) c.179C>T (p.Thr60Ile) | gnomAD v4 |
| 3 | g.81705455G>C | CA353687625 | GBE1 | c.302C>G (p.Thr101Ser) c.179C>G (p.Thr60Ser) | gnomAD v4 |
| 3 | g.81705455G>T | CA353687624 | GBE1 | c.302C>A (p.Thr101Asn) c.179C>A (p.Thr60Asn) | gnomAD v4 |
| 3 | g.81705456T>A | CA353687626 | GBE1 | c.301A>T (p.Thr101Ser) c.178A>T (p.Thr60Ser) | |
| 3 | g.81705456T>C | CA353687627 | GBE1 | c.301A>G (p.Thr101Ala) c.178A>G (p.Thr60Ala) | gnomAD v4 |
| 3 | g.81705456T>G | CA353687628 | GBE1 | c.301A>C (p.Thr101Pro) c.178A>C (p.Thr60Pro) | gnomAD v4 |
| 3 | g.81705457A>C | CA434495343 | GBE1 | c.300T>G (p.Leu100=) c.177T>G (p.Leu59=) | |
| 3 | g.81705457A>G | CA434495345 | GBE1 | c.300T>C (p.Leu100=) c.177T>C (p.Leu59=) | gnomAD v4 |
| 3 | g.81705457A>T | CA434495353 | GBE1 | c.300T>A (p.Leu100=) c.177T>A (p.Leu59=) | |
| 3 | g.81705458del | CA2666607787 | GBE1 | c.300del (p.Thr101LeufsTer?) c.177del (p.Thr60LeufsTer?) | gnomAD v4 |
| 3 | g.81705458A>C | CA353687629 | GBE1 | c.299T>G (p.Leu100Arg) c.176T>G (p.Leu59Arg) | |
| 3 | g.81705458A>G | CA353687630 | GBE1 | c.299T>C (p.Leu100Pro) c.176T>C (p.Leu59Pro) | |
| 3 | g.81705458A>T | CA353687631 | GBE1 | c.299T>A (p.Leu100His) c.176T>A (p.Leu59His) | |
| 3 | g.81705459G>A | CA353687632 | GBE1 | c.298C>T (p.Leu100Phe) c.175C>T (p.Leu59Phe) | |
| 3 | g.81705459G>C | CA78298508 | GBE1 | c.298C>G (p.Leu100Val) c.175C>G (p.Leu59Val) | dbSNP gnomAD v4 |
| 3 | g.81705459G= | CA1378760058 | GBE1 | c.298C= (p.Leu100=) c.175C= (p.Leu59=) | |
| 3 | g.81705459G>T | CA353687633 | GBE1 | c.298C>A (p.Leu100Ile) c.175C>A (p.Leu59Ile) | |
| 3 | g.81705460A>C | CA353687634 | GBE1 | c.297T>G (p.Phe99Leu) c.174T>G (p.Phe58Leu) | |
| 3 | g.81705460A>G | CA434495380 | GBE1 | c.297T>C (p.Phe99=) c.174T>C (p.Phe58=) | |
| 3 | g.81705460A>T | CA353687635 | GBE1 | c.297T>A (p.Phe99Leu) c.174T>A (p.Phe58Leu) | |
| 3 | g.81705461A>C | CA353687638 | GBE1 | c.296T>G (p.Phe99Cys) c.173T>G (p.Phe58Cys) | |
| 3 | g.81705461A>G | CA353687637 | GBE1 | c.296T>C (p.Phe99Ser) c.173T>C (p.Phe58Ser) | |
| 3 | g.81705461A>T | CA353687636 | GBE1 | c.296T>A (p.Phe99Tyr) c.173T>A (p.Phe58Tyr) | |
| 3 | g.81705462A= | CA1378760059 | GBE1 | c.295T= (p.Phe99=) c.172T= (p.Phe58=) | |
| 3 | g.81705462A>C | CA353687639 | GBE1 | c.295T>G (p.Phe99Val) c.172T>G (p.Phe58Val) | |
| 3 | g.81705462A>G | CA353687640 | GBE1 | c.295T>C (p.Phe99Leu) c.172T>C (p.Phe58Leu) | dbSNP gnomAD v4 |
| 3 | g.81705462A>T | CA353687641 | GBE1 | c.295T>A (p.Phe99Ile) c.172T>A (p.Phe58Ile) | |
| 3 | g.81705463A>C | CA434495397 | GBE1 | c.294T>G (p.Val98=) c.171T>G (p.Val57=) | |
| 3 | g.81705463A>G | CA434495399 | GBE1 | c.294T>C (p.Val98=) c.171T>C (p.Val57=) | |
| 3 | g.81705463A>T | CA434495402 | GBE1 | c.294T>A (p.Val98=) c.171T>A (p.Val57=) | |
| 3 | g.81705464A= | CA1378760060 | GBE1 | c.293T= (p.Val98=) c.170T= (p.Val57=) | |
| 3 | g.81705464A>C | CA2500021 | GBE1 | c.293T>G (p.Val98Gly) c.170T>G (p.Val57Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705464A>G | CA353687642 | GBE1 | c.293T>C (p.Val98Ala) c.170T>C (p.Val57Ala) | |
| 3 | g.81705464A>T | CA353687643 | GBE1 | c.293T>A (p.Val98Asp) c.170T>A (p.Val57Asp) | |
| 3 | g.81705464_81705466del | CA2666607788 | GBE1 | c.291_293del (p.Val98del) c.168_170del (p.Val57del) | gnomAD v4 |
| 3 | g.81705465C>A | CA353687644 | GBE1 | c.292G>T (p.Val98Phe) c.169G>T (p.Val57Phe) | gnomAD v4 |
| 3 | g.81705465C= | CA1378760062 | GBE1 | c.292G= (p.Val98=) c.169G= (p.Val57=) | |
| 3 | g.81705465C>G | CA2500022 | GBE1 | c.292G>C (p.Val98Leu) c.169G>C (p.Val57Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705465C>T | CA353687645 | GBE1 | c.292G>A (p.Val98Ile) c.169G>A (p.Val57Ile) | COSMIC COSMIC |
| 3 | g.81705466T>A | CA434495421 | GBE1 | c.291A>T (p.Gly97=) c.168A>T (p.Gly56=) | |
| 3 | g.81705466T>C | CA434495423 | GBE1 | c.291A>G (p.Gly97=) c.168A>G (p.Gly56=) | |
| 3 | g.81705466T>G | CA434495426 | GBE1 | c.291A>C (p.Gly97=) c.168A>C (p.Gly56=) | gnomAD v4 |
| 3 | g.81705467C>A | CA353687646 | GBE1 | c.290G>T (p.Gly97Val) c.167G>T (p.Gly56Val) | gnomAD v4 |
| 3 | g.81705467C>G | CA353687647 | GBE1 | c.290G>C (p.Gly97Ala) c.167G>C (p.Gly56Ala) | |
| 3 | g.81705467C>T | CA353687648 | GBE1 | c.290G>A (p.Gly97Glu) c.167G>A (p.Gly56Glu) | |
| 3 | g.81705468C>A | CA353687651 | GBE1 | c.289G>T (p.Gly97Ter) c.166G>T (p.Gly56Ter) | |
| 3 | g.81705468C= | CA1378760066 | GBE1 | c.289G= (p.Gly97=) c.166G= (p.Gly56=) | |
| 3 | g.81705468C>G | CA353687650 | GBE1 | c.289G>C (p.Gly97Arg) c.166G>C (p.Gly56Arg) | |
| 3 | g.81705468C>T | CA353687649 | GBE1 | c.289G>A (p.Gly97Arg) c.166G>A (p.Gly56Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.81705468_81705469delinsCT | CA1378760065 | GBE1 | c.288_289delinsAG (p.Glu96=) c.165_166delinsAG (p.Glu55=) | |
| 3 | g.81705470_81705472del | CA645517399 | GBE1 | c.287_289del (p.Glu96del) c.164_166del (p.Glu55del) | gnomAD v4 COSMIC COSMIC |
| 3 | g.81705469T>A | CA353687652 | GBE1 | c.288A>T (p.Glu96Asp) c.165A>T (p.Glu55Asp) | |
| 3 | g.81705469T>C | CA434495443 | GBE1 | c.288A>G (p.Glu96=) c.165A>G (p.Glu55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.81705469T>G | CA353687653 | GBE1 | c.288A>C (p.Glu96Asp) c.165A>C (p.Glu55Asp) | gnomAD v4 |
| 3 | g.81705469T= | CA1378760067 | GBE1 | c.288A= (p.Glu96=) c.165A= (p.Glu55=) | |
| 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 |