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 |
|---|---|---|---|---|---|
| 5 | g.74705225A= | CA1555768428 | HEXB | c.676A= (p.Met226=) n.395A= c.1A= (p.Met1=) n.741A= | |
| 5 | g.74705225A>C | CA360065569 | HEXB | c.676A>C (p.Met226Leu) n.395A>C c.1A>C (p.Met1Leu) n.741A>C | |
| 5 | g.74705225A>G | CA3305913 | HEXB | c.676A>G (p.Met226Val) n.395A>G c.1A>G (p.Met1Val) n.741A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705225A>T | CA360065568 | HEXB | c.676A>T (p.Met226Leu) n.395A>T c.1A>T (p.Met1Leu) n.741A>T | |
| 5 | g.74705226T>A | CA360065570 | HEXB | c.677T>A (p.Met226Lys) n.396T>A c.2T>A (p.Met1Lys) n.742T>A | |
| 5 | g.74705226T>C | CA360065571 | HEXB | c.677T>C (p.Met226Thr) n.396T>C c.2T>C (p.Met1Thr) n.742T>C | gnomAD v4 |
| 5 | g.74705226T>G | CA360065572 | HEXB | c.677T>G (p.Met226Arg) n.396T>G c.2T>G (p.Met1Arg) n.742T>G | |
| 5 | g.74705227G>A | CA120904729 | HEXB | c.678G>A (p.Met226Ile) n.397G>A c.3G>A (p.Met1Ile) n.743G>A | dbSNP |
| 5 | g.74705227G>C | CA360065573 | HEXB | c.678G>C (p.Met226Ile) n.397G>C c.3G>C (p.Met1Ile) n.743G>C | |
| 5 | g.74705227G= | CA1555768431 | HEXB | c.678G= (p.Met226=) n.397G= c.3G= (p.Met1=) n.743G= | |
| 5 | g.74705227G>T | CA360065574 | HEXB | c.678G>T (p.Met226Ile) n.397G>T c.3G>T (p.Met1Ile) n.743G>T | |
| 5 | g.74705228G>A | CA360065575 | HEXB | c.679G>A (p.Ala227Thr) n.398G>A c.4G>A (p.Ala2Thr) n.744G>A | gnomAD v4 |
| 5 | g.74705228G>C | CA360065576 | HEXB | c.679G>C (p.Ala227Pro) n.398G>C c.4G>C (p.Ala2Pro) n.744G>C | |
| 5 | g.74705228G>T | CA360065577 | HEXB | c.679G>T (p.Ala227Ser) n.398G>T c.4G>T (p.Ala2Ser) n.744G>T | |
| 5 | g.74705229C>A | CA360065578 | HEXB | c.680C>A (p.Ala227Asp) n.399C>A c.5C>A (p.Ala2Asp) n.745C>A | ClinVar gnomAD v4 |
| 5 | g.74705229C>G | CA360065579 | HEXB | c.680C>G (p.Ala227Gly) n.399C>G c.5C>G (p.Ala2Gly) n.745C>G | |
| 5 | g.74705229C>T | CA360065580 | HEXB | c.680C>T (p.Ala227Val) n.399C>T c.5C>T (p.Ala2Val) n.745C>T | |
| 5 | g.74705230T>A | CA444847594 | HEXB | c.681T>A (p.Ala227=) n.400T>A c.6T>A (p.Ala2=) n.746T>A | |
| 5 | g.74705230T>C | CA3305914 | HEXB | c.681T>C (p.Ala227=) n.400T>C c.6T>C (p.Ala2=) n.746T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705230T>G | CA444847597 | HEXB | c.681T>G (p.Ala227=) n.400T>G c.6T>G (p.Ala2=) n.746T>G | |
| 5 | g.74705230T= | CA1555768434 | HEXB | c.681T= (p.Ala227=) n.400T= c.6T= (p.Ala2=) n.746T= | |
| 5 | g.74705231T>A | CA360065583 | HEXB | c.682T>A (p.Phe228Ile) n.401T>A c.7T>A (p.Phe3Ile) n.747T>A | |
| 5 | g.74705231T>C | CA360065582 | HEXB | c.682T>C (p.Phe228Leu) n.401T>C c.7T>C (p.Phe3Leu) n.747T>C | |
| 5 | g.74705231T>G | CA360065581 | HEXB | c.682T>G (p.Phe228Val) n.401T>G c.7T>G (p.Phe3Val) n.747T>G | |
| 5 | g.74705232T>A | CA360065584 | HEXB | c.683T>A (p.Phe228Tyr) n.402T>A c.8T>A (p.Phe3Tyr) n.748T>A | |
| 5 | g.74705232T>C | CA360065585 | HEXB | c.683T>C (p.Phe228Ser) n.402T>C c.8T>C (p.Phe3Ser) n.748T>C | |
| 5 | g.74705232T>G | CA3305915 | HEXB | c.683T>G (p.Phe228Cys) n.402T>G c.8T>G (p.Phe3Cys) n.748T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705232T= | CA1555768438 | HEXB | c.683T= (p.Phe228=) n.402T= c.8T= (p.Phe3=) n.748T= | |
| 5 | g.74705233T>A | CA360065586 | HEXB | c.684T>A (p.Phe228Leu) n.403T>A c.9T>A (p.Phe3Leu) n.749T>A | |
| 5 | g.74705233T>C | CA444847604 | HEXB | c.684T>C (p.Phe228=) n.403T>C c.9T>C (p.Phe3=) n.749T>C | gnomAD v4 |
| 5 | g.74705233T>G | CA360065587 | HEXB | c.684T>G (p.Phe228Leu) n.403T>G c.9T>G (p.Phe3Leu) n.749T>G | |
| 5 | g.74705234A= | CA1555768441 | HEXB | c.685A= (p.Asn229=) n.404A= c.10A= (p.Asn4=) n.750A= | |
| 5 | g.74705234A>C | CA360065588 | HEXB | c.685A>C (p.Asn229His) n.404A>C c.10A>C (p.Asn4His) n.750A>C | |
| 5 | g.74705234A>G | CA360065589 | HEXB | c.685A>G (p.Asn229Asp) n.404A>G c.10A>G (p.Asn4Asp) n.750A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74705234A>T | CA360065590 | HEXB | c.685A>T (p.Asn229Tyr) n.404A>T c.10A>T (p.Asn4Tyr) n.750A>T | |
| 5 | g.74705235A>C | CA360065591 | HEXB | c.686A>C (p.Asn229Thr) n.405A>C c.11A>C (p.Asn4Thr) n.751A>C | |
| 5 | g.74705235A>G | CA360065592 | HEXB | c.686A>G (p.Asn229Ser) n.405A>G c.11A>G (p.Asn4Ser) n.751A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.74705235A>T | CA360065593 | HEXB | c.686A>T (p.Asn229Ile) n.405A>T c.11A>T (p.Asn4Ile) n.751A>T | |
| 5 | g.74705236T>A | CA360065594 | HEXB | c.687T>A (p.Asn229Lys) n.406T>A c.12T>A (p.Asn4Lys) n.752T>A | |
| 5 | g.74705236T>C | CA444847612 | HEXB | c.687T>C (p.Asn229=) n.406T>C c.12T>C (p.Asn4=) n.752T>C | dbSNP gnomAD v4 |
| 5 | g.74705236T>G | CA360065595 | HEXB | c.687T>G (p.Asn229Lys) n.406T>G c.12T>G (p.Asn4Lys) n.752T>G | |
| 5 | g.74705236T= | CA1555768443 | HEXB | c.687T= (p.Asn229=) n.406T= c.12T= (p.Asn4=) n.752T= | |
| 5 | g.74705237A>C | CA360065597 | HEXB | c.688A>C (p.Lys230Gln) n.407A>C c.13A>C (p.Lys5Gln) n.753A>C | dbSNP |
| 5 | g.74705237A>G | CA360065598 | HEXB | c.688A>G (p.Lys230Glu) n.407A>G c.13A>G (p.Lys5Glu) n.753A>G | |
| 5 | g.74705237A>T | CA360065596 | HEXB | c.688A>T (p.Lys230Ter) n.407A>T c.13A>T (p.Lys5Ter) n.753A>T | |
| 5 | g.74705238del | CA2674238976 | HEXB | c.689del (p.Lys230SerfsTer9) n.408del c.14del (p.Lys5SerfsTer9) n.754del | gnomAD v4 |
| 5 | g.74705238A>C | CA360065599 | HEXB | c.689A>C (p.Lys230Thr) n.408A>C c.14A>C (p.Lys5Thr) n.754A>C | |
| 5 | g.74705238A>G | CA360065600 | HEXB | c.689A>G (p.Lys230Arg) n.408A>G c.14A>G (p.Lys5Arg) n.754A>G | |
| 5 | g.74705238A>T | CA360065601 | HEXB | c.689A>T (p.Lys230Met) n.408A>T c.14A>T (p.Lys5Met) n.754A>T | |
| 5 | g.74705239G>A | CA444847616 | HEXB | c.690G>A (p.Lys230=) n.409G>A c.15G>A (p.Lys5=) n.755G>A | |
| 5 | g.74705239G>C | CA360065602 | HEXB | c.690G>C (p.Lys230Asn) n.409G>C c.15G>C (p.Lys5Asn) n.755G>C | gnomAD v4 |
| 5 | g.74705239G>T | CA360065603 | HEXB | c.690G>T (p.Lys230Asn) n.409G>T c.15G>T (p.Lys5Asn) n.755G>T | gnomAD v4 |
| 5 | g.74705240T>A | CA360065604 | HEXB | c.691T>A (p.Phe231Ile) n.410T>A c.16T>A (p.Phe6Ile) n.756T>A | |
| 5 | g.74705240T>C | CA360065605 | HEXB | c.691T>C (p.Phe231Leu) n.410T>C c.16T>C (p.Phe6Leu) n.756T>C | |
| 5 | g.74705240T>G | CA360065606 | HEXB | c.691T>G (p.Phe231Val) n.410T>G c.16T>G (p.Phe6Val) n.756T>G | |
| 5 | g.74705241T>A | CA360065607 | HEXB | c.692T>A (p.Phe231Tyr) n.411T>A c.17T>A (p.Phe6Tyr) n.757T>A | |
| 5 | g.74705241T>C | CA360065608 | HEXB | c.692T>C (p.Phe231Ser) n.411T>C c.17T>C (p.Phe6Ser) n.757T>C | |
| 5 | g.74705241T>G | CA360065609 | HEXB | c.692T>G (p.Phe231Cys) n.411T>G c.17T>G (p.Phe6Cys) n.757T>G | |
| 5 | g.74705242T>A | CA360065610 | HEXB | c.693T>A (p.Phe231Leu) n.412T>A c.18T>A (p.Phe6Leu) n.758T>A | |
| 5 | g.74705242T>C | CA444847624 | HEXB | c.693T>C (p.Phe231=) n.412T>C c.18T>C (p.Phe6=) n.758T>C | gnomAD v4 |
| 5 | g.74705242T>G | CA360065611 | HEXB | c.693T>G (p.Phe231Leu) n.412T>G c.18T>G (p.Phe6Leu) n.758T>G | dbSNP gnomAD v2 |
| 5 | g.74705242T= | CA1555768445 | HEXB | c.693T= (p.Phe231=) n.412T= c.18T= (p.Phe6=) n.758T= | |
| 5 | g.74705243A= | CA1555768446 | HEXB | c.694A= (p.Asn232=) n.413A= c.19A= (p.Asn7=) n.759A= | |
| 5 | g.74705243A>C | CA120904734 | HEXB | c.694A>C (p.Asn232His) n.413A>C c.19A>C (p.Asn7His) n.759A>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74705243A>G | CA360065613 | HEXB | c.694A>G (p.Asn232Asp) n.413A>G c.19A>G (p.Asn7Asp) n.759A>G | |
| 5 | g.74705243A>T | CA360065612 | HEXB | c.694A>T (p.Asn232Tyr) n.413A>T c.19A>T (p.Asn7Tyr) n.759A>T | |
| 5 | g.74705244A>C | CA360065614 | HEXB | c.695A>C (p.Asn232Thr) n.414A>C c.20A>C (p.Asn7Thr) n.760A>C | |
| 5 | g.74705244A>G | CA360065615 | HEXB | c.695A>G (p.Asn232Ser) n.414A>G c.20A>G (p.Asn7Ser) n.760A>G | gnomAD v4 |
| 5 | g.74705244A>T | CA360065616 | HEXB | c.695A>T (p.Asn232Ile) n.414A>T c.20A>T (p.Asn7Ile) n.760A>T | |
| 5 | g.74705245T>A | CA360065617 | HEXB | c.696T>A (p.Asn232Lys) n.415T>A c.21T>A (p.Asn7Lys) n.761T>A | |
| 5 | g.74705245T>C | CA444847632 | HEXB | c.696T>C (p.Asn232=) n.415T>C c.21T>C (p.Asn7=) n.761T>C | |
| 5 | g.74705245T>G | CA360065618 | HEXB | c.696T>G (p.Asn232Lys) n.415T>G c.21T>G (p.Asn7Lys) n.761T>G | |
| 5 | g.74705246G>A | CA3305916 | HEXB | c.697G>A (p.Val233Ile) n.416G>A c.22G>A (p.Val8Ile) n.762G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705246G>C | CA360065619 | HEXB | c.697G>C (p.Val233Leu) n.416G>C c.22G>C (p.Val8Leu) n.762G>C | |
| 5 | g.74705246G= | CA1555768449 | HEXB | c.697G= (p.Val233=) n.416G= c.22G= (p.Val8=) n.762G= | |
| 5 | g.74705246G>T | CA360065620 | HEXB | c.697G>T (p.Val233Phe) n.416G>T c.22G>T (p.Val8Phe) n.762G>T | |
| 5 | g.74705247T>A | CA360065621 | HEXB | c.698T>A (p.Val233Asp) n.417T>A c.23T>A (p.Val8Asp) n.763T>A | |
| 5 | g.74705247T>C | CA360065622 | HEXB | c.698T>C (p.Val233Ala) n.417T>C c.23T>C (p.Val8Ala) n.763T>C | gnomAD v4 |
| 5 | g.74705247T>G | CA3305917 | HEXB | c.698T>G (p.Val233Gly) n.417T>G c.23T>G (p.Val8Gly) n.763T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705247T= | CA1555768453 | HEXB | c.698T= (p.Val233=) n.417T= c.23T= (p.Val8=) n.763T= | |
| 5 | g.74705248T>A | CA444847636 | HEXB | c.699T>A (p.Val233=) n.418T>A c.24T>A (p.Val8=) n.764T>A | |
| 5 | g.74705248T>C | CA444847640 | HEXB | c.699T>C (p.Val233=) n.418T>C c.24T>C (p.Val8=) n.764T>C | ClinVar |
| 5 | g.74705248T>G | CA444847638 | HEXB | c.699T>G (p.Val233=) n.418T>G c.24T>G (p.Val8=) n.764T>G | |
| 5 | g.74705249C>A | CA360065624 | HEXB | c.700C>A (p.Leu234Ile) n.419C>A c.25C>A (p.Leu9Ile) n.765C>A | gnomAD v4 |
| 5 | g.74705249C>G | CA360065625 | HEXB | c.700C>G (p.Leu234Val) n.419C>G c.25C>G (p.Leu9Val) n.765C>G | |
| 5 | g.74705249C>T | CA360065623 | HEXB | c.700C>T (p.Leu234Phe) n.419C>T c.25C>T (p.Leu9Phe) n.765C>T | gnomAD v4 |
| 5 | g.74705250T>A | CA360065628 | HEXB | c.701T>A (p.Leu234His) n.420T>A c.26T>A (p.Leu9His) n.766T>A | |
| 5 | g.74705250T>C | CA360065626 | HEXB | c.701T>C (p.Leu234Pro) n.420T>C c.26T>C (p.Leu9Pro) n.766T>C | |
| 5 | g.74705250T>G | CA360065627 | HEXB | c.701T>G (p.Leu234Arg) n.420T>G c.26T>G (p.Leu9Arg) n.766T>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705250T= | CA1555768454 | HEXB | c.701T= (p.Leu234=) n.420T= c.26T= (p.Leu9=) n.766T= | |
| 5 | g.74705251T>A | CA444847643 | HEXB | c.702T>A (p.Leu234=) n.421T>A c.27T>A (p.Leu9=) n.767T>A | |
| 5 | g.74705251T>C | CA444847644 | HEXB | c.702T>C (p.Leu234=) n.421T>C c.27T>C (p.Leu9=) n.767T>C | |
| 5 | g.74705251T>G | CA444847645 | HEXB | c.702T>G (p.Leu234=) n.421T>G c.27T>G (p.Leu9=) n.767T>G | |
| 5 | g.74705252C>A | CA360065629 | HEXB | c.703C>A (p.His235Asn) n.422C>A c.28C>A (p.His10Asn) n.768C>A | gnomAD v4 |
| 5 | g.74705252C= | CA1555768457 | HEXB | c.703C= (p.His235=) n.422C= c.28C= (p.His10=) n.768C= | |
| 5 | g.74705252C>G | CA360065630 | HEXB | c.703C>G (p.His235Asp) n.422C>G c.28C>G (p.His10Asp) n.768C>G | |
| 5 | g.74705252C>T | CA360065631 | HEXB | c.703C>T (p.His235Tyr) n.422C>T c.28C>T (p.His10Tyr) n.768C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705253A>C | CA360065632 | HEXB | c.704A>C (p.His235Pro) n.423A>C c.29A>C (p.His10Pro) n.769A>C | |
| 5 | g.74705253A>G | CA360065633 | HEXB | c.704A>G (p.His235Arg) n.423A>G c.29A>G (p.His10Arg) n.769A>G | |
| 5 | g.74705253A>T | CA360065634 | HEXB | c.704A>T (p.His235Leu) n.423A>T c.29A>T (p.His10Leu) n.769A>T | |
| 5 | g.74705254C>A | CA360065635 | HEXB | c.705C>A (p.His235Gln) n.424C>A c.30C>A (p.His10Gln) n.770C>A | |
| 5 | g.74705254C>G | CA360065637 | HEXB | c.705C>G (p.His235Gln) n.424C>G c.30C>G (p.His10Gln) n.770C>G | ClinVar dbSNP |
| 5 | g.74705254C>T | CA444847647 | HEXB | c.705C>T (p.His235=) n.424C>T c.30C>T (p.His10=) n.770C>T | ClinVar dbSNP |
| 5 | g.74705255T>A | CA360065639 | HEXB | c.706T>A (p.Trp236Arg) n.425T>A c.31T>A (p.Trp11Arg) n.771T>A | |
| 5 | g.74705255T>C | CA360065641 | HEXB | c.706T>C (p.Trp236Arg) n.425T>C c.31T>C (p.Trp11Arg) n.771T>C | |
| 5 | g.74705255T>G | CA360065644 | HEXB | c.706T>G (p.Trp236Gly) n.425T>G c.31T>G (p.Trp11Gly) n.771T>G | |
| 5 | g.74705256G>A | CA360065652 | HEXB | c.707G>A (p.Trp236Ter) n.426G>A c.32G>A (p.Trp11Ter) n.772G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74705256G>C | CA360065650 | HEXB | c.707G>C (p.Trp236Ser) n.426G>C c.32G>C (p.Trp11Ser) n.772G>C | |
| 5 | g.74705256G= | CA1555768460 | HEXB | c.707G= (p.Trp236=) n.426G= c.32G= (p.Trp11=) n.772G= | |
| 5 | g.74705256G>T | CA360065647 | HEXB | c.707G>T (p.Trp236Leu) n.426G>T c.32G>T (p.Trp11Leu) n.772G>T | |
| 5 | g.74705257G>A | CA360065654 | HEXB | c.708G>A (p.Trp236Ter) n.427G>A c.33G>A (p.Trp11Ter) n.773G>A | gnomAD v4 |
| 5 | g.74705257G>C | CA360065655 | HEXB | c.708G>C (p.Trp236Cys) n.427G>C c.33G>C (p.Trp11Cys) n.773G>C | |
| 5 | g.74705257G>T | CA360065656 | HEXB | c.708G>T (p.Trp236Cys) n.427G>T c.33G>T (p.Trp11Cys) n.773G>T | |
| 5 | g.74705258C>A | CA360065657 | HEXB | c.709C>A (p.His237Asn) c.34C>A (p.His12Asn) n.774C>A | |
| 5 | g.74705258C>G | CA360065658 | HEXB | c.709C>G (p.His237Asp) c.34C>G (p.His12Asp) n.774C>G | |
| 5 | g.74705258C>T | CA360065659 | HEXB | c.709C>T (p.His237Tyr) c.34C>T (p.His12Tyr) n.774C>T | gnomAD v4 |
| 5 | g.74705259A= | CA1555768462 | HEXB | c.710A= (p.His237=) c.35A= (p.His12=) n.775A= | |
| 5 | g.74705259A>C | CA360065660 | HEXB | c.710A>C (p.His237Pro) c.35A>C (p.His12Pro) n.775A>C | |
| 5 | g.74705259A>G | CA360065661 | HEXB | c.710A>G (p.His237Arg) c.35A>G (p.His12Arg) n.775A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74705259A>T | CA360065662 | HEXB | c.710A>T (p.His237Leu) c.35A>T (p.His12Leu) n.775A>T | |
| 5 | g.74705260C>A | CA360065663 | HEXB | c.711C>A (p.His237Gln) c.36C>A (p.His12Gln) n.776C>A | |
| 5 | g.74705260C>G | CA360065664 | HEXB | c.711C>G (p.His237Gln) c.36C>G (p.His12Gln) n.776C>G | |
| 5 | g.74705260C>T | CA444847648 | HEXB | c.711C>T (p.His237=) c.36C>T (p.His12=) n.776C>T | ClinVar gnomAD v4 |
| 5 | g.74705261A= | CA1555768464 | HEXB | c.712A= (p.Ile238=) c.37A= (p.Ile13=) n.777A= | |
| 5 | g.74705261A>C | CA360065666 | HEXB | c.712A>C (p.Ile238Leu) c.37A>C (p.Ile13Leu) n.777A>C | |
| 5 | g.74705261A>G | CA360065668 | HEXB | c.712A>G (p.Ile238Val) c.37A>G (p.Ile13Val) n.777A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74705261A>T | CA360065670 | HEXB | c.712A>T (p.Ile238Leu) c.37A>T (p.Ile13Leu) n.777A>T | |
| 5 | g.74705262T>A | CA360065672 | HEXB | c.713T>A (p.Ile238Lys) c.38T>A (p.Ile13Lys) n.778T>A | COSMIC |
| 5 | g.74705262T>C | CA360065673 | HEXB | c.713T>C (p.Ile238Thr) c.38T>C (p.Ile13Thr) n.778T>C | dbSNP |
| 5 | g.74705262T>G | CA360065671 | HEXB | c.713T>G (p.Ile238Arg) c.38T>G (p.Ile13Arg) n.778T>G | |
| 5 | g.74705262T= | CA1555768465 | HEXB | c.713T= (p.Ile238=) c.38T= (p.Ile13=) n.778T= | |
| 5 | g.74705263A>C | CA444847649 | HEXB | c.714A>C (p.Ile238=) c.39A>C (p.Ile13=) n.779A>C | |
| 5 | g.74705263A>G | CA360065674 | HEXB | c.714A>G (p.Ile238Met) c.39A>G (p.Ile13Met) n.779A>G | |
| 5 | g.74705263A>T | CA444847650 | HEXB | c.714A>T (p.Ile238=) c.39A>T (p.Ile13=) n.779A>T | COSMIC |
| 5 | g.74705264G>A | CA3305918 | HEXB | c.715G>A (p.Val239Ile) c.40G>A (p.Val14Ile) n.780G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705264G>C | CA360065675 | HEXB | c.715G>C (p.Val239Leu) c.40G>C (p.Val14Leu) n.780G>C | |
| 5 | g.74705264G= | CA1555768471 | HEXB | c.715G= (p.Val239=) c.40G= (p.Val14=) n.780G= | |
| 5 | g.74705264G>T | CA360065676 | HEXB | c.715G>T (p.Val239Phe) c.40G>T (p.Val14Phe) n.780G>T | |
| 5 | g.74705265T>A | CA360065677 | HEXB | c.716T>A (p.Val239Asp) c.41T>A (p.Val14Asp) n.781T>A | |
| 5 | g.74705265T>C | CA360065678 | HEXB | c.716T>C (p.Val239Ala) c.41T>C (p.Val14Ala) n.781T>C | |
| 5 | g.74705265T>G | CA360065679 | HEXB | c.716T>G (p.Val239Gly) c.41T>G (p.Val14Gly) n.781T>G | |
| 5 | g.74705266T>A | CA444847651 | HEXB | c.717T>A (p.Val239=) c.42T>A (p.Val14=) n.782T>A | |
| 5 | g.74705266T>C | CA444847652 | HEXB | c.717T>C (p.Val239=) c.42T>C (p.Val14=) n.782T>C | |
| 5 | g.74705266T>G | CA444847653 | HEXB | c.717T>G (p.Val239=) c.42T>G (p.Val14=) n.782T>G | |
| 5 | g.74705267G>A | CA360065680 | HEXB | c.718G>A (p.Asp240Asn) c.43G>A (p.Asp15Asn) n.783G>A | |
| 5 | g.74705267G>C | CA360065681 | HEXB | c.718G>C (p.Asp240His) c.43G>C (p.Asp15His) n.783G>C | |
| 5 | g.74705267G>T | CA360065682 | HEXB | c.718G>T (p.Asp240Tyr) c.43G>T (p.Asp15Tyr) n.783G>T | |
| 5 | g.74705268A>C | CA360065683 | HEXB | c.719A>C (p.Asp240Ala) c.44A>C (p.Asp15Ala) n.784A>C | |
| 5 | g.74705268A>G | CA360065684 | HEXB | c.719A>G (p.Asp240Gly) c.44A>G (p.Asp15Gly) n.784A>G | |
| 5 | g.74705268A>T | CA360065685 | HEXB | c.719A>T (p.Asp240Val) c.44A>T (p.Asp15Val) n.784A>T | |
| 5 | g.74705269T>A | CA360065687 | HEXB | c.720T>A (p.Asp240Glu) c.45T>A (p.Asp15Glu) n.785T>A | |
| 5 | g.74705269T>C | CA444847654 | HEXB | c.720T>C (p.Asp240=) c.45T>C (p.Asp15=) n.785T>C | |
| 5 | g.74705269T>G | CA360065686 | HEXB | c.720T>G (p.Asp240Glu) c.45T>G (p.Asp15Glu) n.785T>G | |
| 5 | g.74705270G>A | CA360065688 | HEXB | c.721G>A (p.Asp241Asn) c.46G>A (p.Asp16Asn) n.786G>A | |
| 5 | g.74705270G>C | CA360065689 | HEXB | c.721G>C (p.Asp241His) c.46G>C (p.Asp16His) n.786G>C | |
| 5 | g.74705270G>T | CA360065690 | HEXB | c.721G>T (p.Asp241Tyr) c.46G>T (p.Asp16Tyr) n.786G>T | gnomAD v4 |
| 5 | g.74705271A>C | CA360065691 | HEXB | c.722A>C (p.Asp241Ala) c.47A>C (p.Asp16Ala) n.787A>C | |
| 5 | g.74705271A>G | CA360065692 | HEXB | c.722A>G (p.Asp241Gly) c.47A>G (p.Asp16Gly) n.787A>G | |
| 5 | g.74705271A>T | CA360065693 | HEXB | c.722A>T (p.Asp241Val) c.47A>T (p.Asp16Val) n.787A>T | |
| 5 | g.74705272C>A | CA360065694 | HEXB | c.723C>A (p.Asp241Glu) c.48C>A (p.Asp16Glu) n.788C>A | |
| 5 | g.74705272C= | CA1555768476 | HEXB | c.723C= (p.Asp241=) c.48C= (p.Asp16=) n.788C= | |
| 5 | g.74705272C>G | CA360065695 | HEXB | c.723C>G (p.Asp241Glu) c.48C>G (p.Asp16Glu) n.788C>G | |
| 5 | g.74705272C>T | CA3305919 | HEXB | c.723C>T (p.Asp241=) c.48C>T (p.Asp16=) n.788C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705273del | CA2578364299 | HEXB | c.724del (p.Gln242SerfsTer13) c.49del (p.Gln17SerfsTer13) n.789del | |
| 5 | g.74705273C>A | CA360065696 | HEXB | c.724C>A (p.Gln242Lys) c.49C>A (p.Gln17Lys) n.789C>A | |
| 5 | g.74705273C= | CA1555768477 | HEXB | c.724C= (p.Gln242=) c.49C= (p.Gln17=) n.789C= | |
| 5 | g.74705273C>G | CA360065697 | HEXB | c.724C>G (p.Gln242Glu) c.49C>G (p.Gln17Glu) n.789C>G | |
| 5 | g.74705273C>T | CA360065698 | HEXB | c.724C>T (p.Gln242Ter) c.49C>T (p.Gln17Ter) n.789C>T | dbSNP gnomAD v4 |
| 5 | g.74705274A>C | CA360065701 | HEXB | c.725A>C (p.Gln242Pro) c.50A>C (p.Gln17Pro) n.790A>C | |
| 5 | g.74705274A>G | CA360065700 | HEXB | c.725A>G (p.Gln242Arg) c.50A>G (p.Gln17Arg) n.790A>G | |
| 5 | g.74705274A>T | CA360065699 | HEXB | c.725A>T (p.Gln242Leu) c.50A>T (p.Gln17Leu) n.790A>T | |
| 5 | g.74705275G>A | CA444847655 | HEXB | c.726G>A (p.Gln242=) c.51G>A (p.Gln17=) n.791G>A | |
| 5 | g.74705275G>C | CA360065702 | HEXB | c.726G>C (p.Gln242His) c.51G>C (p.Gln17His) n.791G>C | |
| 5 | g.74705275G>T | CA360065703 | HEXB | c.726G>T (p.Gln242His) c.51G>T (p.Gln17His) n.791G>T | |
| 5 | g.74705276T>A | CA3305920 | HEXB | c.727T>A (p.Ser243Thr) c.52T>A (p.Ser18Thr) n.792T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705276T>C | CA360065704 | HEXB | c.727T>C (p.Ser243Pro) c.52T>C (p.Ser18Pro) n.792T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705276T>G | CA360065705 | HEXB | c.727T>G (p.Ser243Ala) c.52T>G (p.Ser18Ala) n.792T>G | |
| 5 | g.74705276T= | CA1555768478 | HEXB | c.727T= (p.Ser243=) c.52T= (p.Ser18=) n.792T= | |
| 5 | g.74705277C>A | CA360065706 | HEXB | c.728C>A (p.Ser243Tyr) c.53C>A (p.Ser18Tyr) n.793C>A | |
| 5 | g.74705277C>G | CA360065707 | HEXB | c.728C>G (p.Ser243Cys) c.53C>G (p.Ser18Cys) n.793C>G | |
| 5 | g.74705277C>T | CA360065708 | HEXB | c.728C>T (p.Ser243Phe) c.53C>T (p.Ser18Phe) n.793C>T | |
| 5 | g.74705278T>A | CA444847657 | HEXB | c.729T>A (p.Ser243=) c.54T>A (p.Ser18=) n.794T>A | |
| 5 | g.74705278T>C | CA444847658 | HEXB | c.729T>C (p.Ser243=) c.54T>C (p.Ser18=) n.794T>C | ClinVar gnomAD v4 |
| 5 | g.74705278T>G | CA444847656 | HEXB | c.729T>G (p.Ser243=) c.54T>G (p.Ser18=) n.794T>G | |
| 5 | g.74705280del | CA2573139787 | HEXB | c.731del (p.Phe244SerfsTer11) c.56del (p.Phe19SerfsTer11) n.796del | ClinVar dbSNP gnomAD v4 |
| 5 | g.74705279T>A | CA360065711 | HEXB | c.730T>A (p.Phe244Ile) c.55T>A (p.Phe19Ile) n.795T>A | |
| 5 | g.74705279T>C | CA360065709 | HEXB | c.730T>C (p.Phe244Leu) c.55T>C (p.Phe19Leu) n.795T>C | |
| 5 | g.74705279T>G | CA360065710 | HEXB | c.730T>G (p.Phe244Val) c.55T>G (p.Phe19Val) n.795T>G | |
| 5 | g.74705280T>A | CA360065712 | HEXB | c.731T>A (p.Phe244Tyr) c.56T>A (p.Phe19Tyr) n.796T>A | |
| 5 | g.74705280T>C | CA360065713 | HEXB | c.731T>C (p.Phe244Ser) c.56T>C (p.Phe19Ser) n.796T>C | |
| 5 | g.74705280T>G | CA360065714 | HEXB | c.731T>G (p.Phe244Cys) c.56T>G (p.Phe19Cys) n.796T>G | |
| 5 | g.74705281C>A | CA360065715 | HEXB | c.732C>A (p.Phe244Leu) c.57C>A (p.Phe19Leu) n.797C>A | |
| 5 | g.74705281C>G | CA360065716 | HEXB | c.732C>G (p.Phe244Leu) c.57C>G (p.Phe19Leu) n.797C>G | |
| 5 | g.74705281C>T | CA444847659 | HEXB | c.732C>T (p.Phe244=) c.57C>T (p.Phe19=) n.797C>T | |
| 5 | g.74705283del | CA2674238980 | HEXB | c.734del (p.Pro245HisfsTer10) c.59del (p.Pro20HisfsTer10) n.799del | gnomAD v4 |
| 5 | g.74705282C>A | CA360065717 | HEXB | c.733C>A (p.Pro245Thr) c.58C>A (p.Pro20Thr) n.798C>A | |
| 5 | g.74705282C= | CA1555768479 | HEXB | c.733C= (p.Pro245=) c.58C= (p.Pro20=) n.798C= | |
| 5 | g.74705282C>G | CA360065719 | HEXB | c.733C>G (p.Pro245Ala) c.58C>G (p.Pro20Ala) n.798C>G | |
| 5 | g.74705282C>T | CA360065718 | HEXB | c.733C>T (p.Pro245Ser) c.58C>T (p.Pro20Ser) n.798C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705283C>A | CA360065720 | HEXB | c.734C>A (p.Pro245Gln) c.59C>A (p.Pro20Gln) n.799C>A | gnomAD v4 |
| 5 | g.74705283C= | CA1555768480 | HEXB | c.734C= (p.Pro245=) c.59C= (p.Pro20=) n.799C= | |
| 5 | g.74705283C>G | CA360065721 | HEXB | c.734C>G (p.Pro245Arg) c.59C>G (p.Pro20Arg) n.799C>G | |
| 5 | g.74705283C>T | CA360065722 | HEXB | c.734C>T (p.Pro245Leu) c.59C>T (p.Pro20Leu) n.799C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705284A= | CA1555768481 | HEXB | c.735A= (p.Pro245=) c.60A= (p.Pro20=) n.800A= | |
| 5 | g.74705284A>C | CA444847660 | HEXB | c.735A>C (p.Pro245=) c.60A>C (p.Pro20=) n.800A>C | |
| 5 | g.74705284A>G | CA444847661 | HEXB | c.735A>G (p.Pro245=) c.60A>G (p.Pro20=) n.800A>G | dbSNP gnomAD v4 |
| 5 | g.74705284A>T | CA3305921 | HEXB | c.735A>T (p.Pro245=) c.60A>T (p.Pro20=) n.800A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705285T>A | CA360065723 | HEXB | c.736T>A (p.Tyr246Asn) c.61T>A (p.Tyr21Asn) n.801T>A | |
| 5 | g.74705285T>C | CA360065724 | HEXB | c.736T>C (p.Tyr246His) c.61T>C (p.Tyr21His) n.801T>C | gnomAD v4 |
| 5 | g.74705285T>G | CA360065725 | HEXB | c.736T>G (p.Tyr246Asp) c.61T>G (p.Tyr21Asp) n.801T>G | |
| 5 | g.74705286A>C | CA360065726 | HEXB | c.737A>C (p.Tyr246Ser) c.62A>C (p.Tyr21Ser) n.802A>C | |
| 5 | g.74705286A>G | CA360065727 | HEXB | c.737A>G (p.Tyr246Cys) c.62A>G (p.Tyr21Cys) n.802A>G | |
| 5 | g.74705286A>T | CA360065728 | HEXB | c.737A>T (p.Tyr246Phe) c.62A>T (p.Tyr21Phe) n.802A>T | |
| 5 | g.74705287T>A | CA360065730 | HEXB | c.738T>A (p.Tyr246Ter) c.63T>A (p.Tyr21Ter) n.803T>A | ClinVar |
| 5 | g.74705287T>C | CA3305922 | HEXB | c.738T>C (p.Tyr246=) c.63T>C (p.Tyr21=) n.803T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705287T>G | CA360065729 | HEXB | c.738T>G (p.Tyr246Ter) c.63T>G (p.Tyr21Ter) n.803T>G | |
| 5 | g.74705287T= | CA1555768482 | HEXB | c.738T= (p.Tyr246=) c.63T= (p.Tyr21=) n.803T= | |
| 5 | g.74705288C>A | CA360065731 | HEXB | c.739C>A (p.Gln247Lys) c.64C>A (p.Gln22Lys) n.804C>A | |
| 5 | g.74705288C= | CA1555768485 | HEXB | c.739C= (p.Gln247=) c.64C= (p.Gln22=) n.804C= | |
| 5 | g.74705288C>G | CA360065732 | HEXB | c.739C>G (p.Gln247Glu) c.64C>G (p.Gln22Glu) n.804C>G | |
| 5 | g.74705288C>T | CA360065733 | HEXB | c.739C>T (p.Gln247Ter) c.64C>T (p.Gln22Ter) n.804C>T | ClinVar dbSNP |
| 5 | g.74705288_74705290delinsCAG | CA1555768483 | HEXB | c.739_741delinsCAG (p.Gln247=) c.64_66delinsCAG (p.Gln22=) n.804_806delinsCAG | |
| 5 | g.74705289A>C | CA360065734 | HEXB | c.740A>C (p.Gln247Pro) c.65A>C (p.Gln22Pro) n.805A>C | |
| 5 | g.74705289A>G | CA360065735 | HEXB | c.740A>G (p.Gln247Arg) c.65A>G (p.Gln22Arg) n.805A>G | |
| 5 | g.74705289A>T | CA360065736 | HEXB | c.740A>T (p.Gln247Leu) c.65A>T (p.Gln22Leu) n.805A>T | |
| 5 | g.74705291_74705292del | CA3305923 | HEXB | c.742_743del (p.Ser248HisfsTer5) c.67_68del (p.Ser23HisfsTer5) n.807_808del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705290G>A | CA444847662 | HEXB | c.741G>A (p.Gln247=) c.66G>A (p.Gln22=) n.806G>A | |
| 5 | g.74705290G>C | CA360065737 | HEXB | c.741G>C (p.Gln247His) c.66G>C (p.Gln22His) n.806G>C | dbSNP gnomAD v4 |
| 5 | g.74705290G= | CA1555768487 | HEXB | c.741G= (p.Gln247=) c.66G= (p.Gln22=) n.806G= | |
| 5 | g.74705290G>T | CA360065738 | HEXB | c.741G>T (p.Gln247His) c.66G>T (p.Gln22His) n.806G>T | |
| 5 | g.74705291A>C | CA360065739 | HEXB | c.742A>C (p.Ser248Arg) c.67A>C (p.Ser23Arg) n.807A>C | |
| 5 | g.74705291A>G | CA360065740 | HEXB | c.742A>G (p.Ser248Gly) c.67A>G (p.Ser23Gly) n.807A>G | |
| 5 | g.74705291A>T | CA360065741 | HEXB | c.742A>T (p.Ser248Cys) c.67A>T (p.Ser23Cys) n.807A>T | |
| 5 | g.74705292G>A | CA360065743 | HEXB | c.743G>A (p.Ser248Asn) c.68G>A (p.Ser23Asn) n.808G>A | gnomAD v4 |
| 5 | g.74705292G>C | CA360065744 | HEXB | c.743G>C (p.Ser248Thr) c.68G>C (p.Ser23Thr) n.808G>C | |
| 5 | g.74705292G>T | CA360065742 | HEXB | c.743G>T (p.Ser248Ile) c.68G>T (p.Ser23Ile) n.808G>T | gnomAD v4 |
| 5 | g.74705293C>A | CA360065745 | HEXB | c.744C>A (p.Ser248Arg) c.69C>A (p.Ser23Arg) n.809C>A | gnomAD v4 |
| 5 | g.74705293C= | CA1555768488 | HEXB | c.744C= (p.Ser248=) c.69C= (p.Ser23=) n.809C= | |
| 5 | g.74705293C>G | CA360065746 | HEXB | c.744C>G (p.Ser248Arg) c.69C>G (p.Ser23Arg) n.809C>G | |
| 5 | g.74705293C>T | CA444847663 | HEXB | c.744C>T (p.Ser248=) c.69C>T (p.Ser23=) n.809C>T | |
| 5 | g.74705294A= | CA1555768489 | HEXB | c.745A= (p.Ile249=) c.70A= (p.Ile24=) n.810A= | |
| 5 | g.74705294A>C | CA360065747 | HEXB | c.745A>C (p.Ile249Leu) c.70A>C (p.Ile24Leu) n.810A>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705294A>G | CA360065748 | HEXB | c.745A>G (p.Ile249Val) c.70A>G (p.Ile24Val) n.810A>G | |
| 5 | g.74705294A>T | CA360065749 | HEXB | c.745A>T (p.Ile249Phe) c.70A>T (p.Ile24Phe) n.810A>T | |
| 5 | g.74705294dup | CA3305924 | HEXB | c.745dup (p.Ile249AsnfsTer5) c.70dup (p.Ile24AsnfsTer5) n.810dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705295T>A | CA360065750 | HEXB | c.746T>A (p.Ile249Asn) c.71T>A (p.Ile24Asn) n.811T>A | |
| 5 | g.74705295T>C | CA360065752 | HEXB | c.746T>C (p.Ile249Thr) c.71T>C (p.Ile24Thr) n.811T>C | |
| 5 | g.74705295T>G | CA360065751 | HEXB | c.746T>G (p.Ile249Ser) c.71T>G (p.Ile24Ser) n.811T>G | |
| 5 | g.74705296C>A | CA444847664 | HEXB | c.747C>A (p.Ile249=) c.72C>A (p.Ile24=) n.812C>A | gnomAD v4 |
| 5 | g.74705296C>G | CA360065753 | HEXB | c.747C>G (p.Ile249Met) c.72C>G (p.Ile24Met) n.812C>G | |
| 5 | g.74705296C>T | CA444847665 | HEXB | c.747C>T (p.Ile249=) c.72C>T (p.Ile24=) n.812C>T | dbSNP |
| 5 | g.74705297A>C | CA360065754 | HEXB | c.748A>C (p.Thr250Pro) c.73A>C (p.Thr25Pro) n.813A>C | gnomAD v4 |
| 5 | g.74705297A>G | CA360065755 | HEXB | c.748A>G (p.Thr250Ala) c.73A>G (p.Thr25Ala) n.813A>G | dbSNP |
| 5 | g.74705297A>T | CA360065756 | HEXB | c.748A>T (p.Thr250Ser) c.73A>T (p.Thr25Ser) n.813A>T | |
| 5 | g.74705298C>A | CA360065759 | HEXB | c.749C>A (p.Thr250Asn) c.74C>A (p.Thr25Asn) n.814C>A | gnomAD v4 |
| 5 | g.74705298C>G | CA360065758 | HEXB | c.749C>G (p.Thr250Ser) c.74C>G (p.Thr25Ser) n.814C>G | |
| 5 | g.74705298C>T | CA360065757 | HEXB | c.749C>T (p.Thr250Ile) c.74C>T (p.Thr25Ile) n.814C>T | |
| 5 | g.74705299T>A | CA444847666 | HEXB | c.750T>A (p.Thr250=) c.75T>A (p.Thr25=) n.815T>A | |
| 5 | g.74705299T>C | CA444847667 | HEXB | c.750T>C (p.Thr250=) c.75T>C (p.Thr25=) n.815T>C | gnomAD v4 |
| 5 | g.74705299T>G | CA444847668 | HEXB | c.750T>G (p.Thr250=) c.75T>G (p.Thr25=) n.815T>G | |
| 5 | g.74705302del | CA2674238983 | HEXB | c.753del (p.Pro252LeufsTer3) c.78del (p.Pro27LeufsTer3) n.818del | gnomAD v4 |
| 5 | g.74705300T>A | CA360065760 | HEXB | c.751T>A (p.Phe251Ile) c.76T>A (p.Phe26Ile) n.816T>A | |
| 5 | g.74705300T>C | CA360065762 | HEXB | c.751T>C (p.Phe251Leu) c.76T>C (p.Phe26Leu) n.816T>C | dbSNP gnomAD v4 |
| 5 | g.74705300T>G | CA360065761 | HEXB | c.751T>G (p.Phe251Val) c.76T>G (p.Phe26Val) n.816T>G | |
| 5 | g.74705300T= | CA1555768490 | HEXB | c.751T= (p.Phe251=) c.76T= (p.Phe26=) n.816T= | |
| 5 | g.74705301T>A | CA360065763 | HEXB | c.752T>A (p.Phe251Tyr) c.77T>A (p.Phe26Tyr) n.817T>A | |
| 5 | g.74705301T>C | CA360065765 | HEXB | c.752T>C (p.Phe251Ser) c.77T>C (p.Phe26Ser) n.817T>C | |
| 5 | g.74705301T>G | CA360065764 | HEXB | c.752T>G (p.Phe251Cys) c.77T>G (p.Phe26Cys) n.817T>G | |
| 5 | g.74705302T>A | CA360065766 | HEXB | c.753T>A (p.Phe251Leu) c.78T>A (p.Phe26Leu) n.818T>A | |
| 5 | g.74705302T>C | CA444847669 | HEXB | c.753T>C (p.Phe251=) c.78T>C (p.Phe26=) n.818T>C | |
| 5 | g.74705302T>G | CA360065767 | HEXB | c.753T>G (p.Phe251Leu) c.78T>G (p.Phe26Leu) n.818T>G | |
| 5 | g.74705303C>A | CA360065768 | HEXB | c.754C>A (p.Pro252Thr) c.79C>A (p.Pro27Thr) n.819C>A | |
| 5 | g.74705303C= | CA1555768492 | HEXB | c.754C= (p.Pro252=) c.79C= (p.Pro27=) n.819C= | |
| 5 | g.74705303C>G | CA360065769 | HEXB | c.754C>G (p.Pro252Ala) c.79C>G (p.Pro27Ala) n.819C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.74705303C>T | CA360065770 | HEXB | c.754C>T (p.Pro252Ser) c.79C>T (p.Pro27Ser) n.819C>T | |
| 5 | g.74705304C>A | CA360065771 | HEXB | c.755C>A (p.Pro252His) c.80C>A (p.Pro27His) n.820C>A | gnomAD v4 |
| 5 | g.74705304C= | CA1555768493 | HEXB | c.755C= (p.Pro252=) c.80C= (p.Pro27=) n.820C= | |
| 5 | g.74705304C>G | CA3305925 | HEXB | c.755C>G (p.Pro252Arg) c.80C>G (p.Pro27Arg) n.820C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705304C>T | CA360065772 | HEXB | c.755C>T (p.Pro252Leu) c.80C>T (p.Pro27Leu) n.820C>T | |
| 5 | g.74705305del | CA2578364300 | HEXB | c.756del (p.Glu253SerfsTer2) c.81del (p.Glu28SerfsTer2) n.821del | |
| 5 | g.74705305T>A | CA444847670 | HEXB | c.756T>A (p.Pro252=) c.81T>A (p.Pro27=) n.821T>A | |
| 5 | g.74705305T>C | CA444847671 | HEXB | c.756T>C (p.Pro252=) c.81T>C (p.Pro27=) n.821T>C | gnomAD v4 |
| 5 | g.74705305T>G | CA444847672 | HEXB | c.756T>G (p.Pro252=) c.81T>G (p.Pro27=) n.821T>G | |
| 5 | g.74705306G>A | CA360065773 | HEXB | c.757G>A (p.Glu253Lys) c.82G>A (p.Glu28Lys) n.822G>A | gnomAD v4 |
| 5 | g.74705306G>C | CA360065774 | HEXB | c.757G>C (p.Glu253Gln) c.82G>C (p.Glu28Gln) n.822G>C | |
| 5 | g.74705306G>T | CA360065775 | HEXB | c.757G>T (p.Glu253Ter) c.82G>T (p.Glu28Ter) n.822G>T | |
| 5 | g.74705307del | CA2578364301 | HEXB | c.758del (p.Glu253GlyfsTer2) c.83del (p.Glu28GlyfsTer2) n.823del | ClinVar |
| 5 | g.74705307A>C | CA360065776 | HEXB | c.758A>C (p.Glu253Ala) c.83A>C (p.Glu28Ala) n.823A>C | |
| 5 | g.74705307A>G | CA360065777 | HEXB | c.758A>G (p.Glu253Gly) c.83A>G (p.Glu28Gly) n.823A>G | gnomAD v4 |
| 5 | g.74705307A>T | CA360065778 | HEXB | c.758A>T (p.Glu253Val) c.83A>T (p.Glu28Val) n.823A>T | |
| 5 | g.74705308G>A | CA444847673 | HEXB | c.759G>A (p.Glu253=) c.84G>A (p.Glu28=) n.824G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.74705308G>C | CA360065780 | HEXB | c.759G>C (p.Glu253Asp) c.84G>C (p.Glu28Asp) n.824G>C | |
| 5 | g.74705308G= | CA1555768496 | HEXB | c.759G= (p.Glu253=) c.84G= (p.Glu28=) n.824G= | |
| 5 | g.74705308G>T | CA360065779 | HEXB | c.759G>T (p.Glu253Asp) c.84G>T (p.Glu28Asp) n.824G>T | |
| 5 | g.74705309T>A | CA360065781 | HEXB | c.760T>A (p.Leu254Ile) c.85T>A (p.Leu29Ile) n.825T>A | |
| 5 | g.74705309T>C | CA444847674 | HEXB | c.760T>C (p.Leu254=) c.85T>C (p.Leu29=) n.825T>C | |
| 5 | g.74705309T>G | CA360065782 | HEXB | c.760T>G (p.Leu254Val) c.85T>G (p.Leu29Val) n.825T>G | |
| 5 | g.74705310T>A | CA360065783 | HEXB | c.761T>A (p.Leu254Ter) c.86T>A (p.Leu29Ter) n.826T>A | |
| 5 | g.74705310T>C | CA3305926 | HEXB | c.761T>C (p.Leu254Ser) c.86T>C (p.Leu29Ser) n.826T>C | ClinVar dbSNP ExAC |
| 5 | g.74705310T>G | CA360065784 | HEXB | c.761T>G (p.Leu254Ter) c.86T>G (p.Leu29Ter) n.826T>G | |
| 5 | g.74705310T= | CA1555768497 | HEXB | c.761T= (p.Leu254=) c.86T= (p.Leu29=) n.826T= | |
| 5 | g.74705311A>C | CA360065785 | HEXB | c.762A>C (p.Leu254Phe) c.87A>C (p.Leu29Phe) n.827A>C | |
| 5 | g.74705311A>G | CA444847675 | HEXB | c.762A>G (p.Leu254=) c.87A>G (p.Leu29=) n.827A>G | gnomAD v4 |
| 5 | g.74705311A>T | CA360065786 | HEXB | c.762A>T (p.Leu254Phe) c.87A>T (p.Leu29Phe) n.827A>T | |
| 5 | g.74705312del | CA2674238984 | HEXB | c.763del (p.Ser255AlafsTer20) c.88del (p.Ser30AlafsTer20) n.828del | gnomAD v4 |
| 5 | g.74705312A>C | CA360065787 | HEXB | c.763A>C (p.Ser255Arg) c.88A>C (p.Ser30Arg) n.828A>C | |
| 5 | g.74705312A>G | CA360065788 | HEXB | c.763A>G (p.Ser255Gly) c.88A>G (p.Ser30Gly) n.828A>G | |
| 5 | g.74705312A>T | CA360065789 | HEXB | c.763A>T (p.Ser255Cys) c.88A>T (p.Ser30Cys) n.828A>T | |
| 5 | g.74705313G>A | CA3305927 | HEXB | c.764G>A (p.Ser255Asn) c.89G>A (p.Ser30Asn) n.829G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.74705313G>C | CA360065790 | HEXB | c.764G>C (p.Ser255Thr) c.89G>C (p.Ser30Thr) n.829G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705313G= | CA1555768498 | HEXB | c.764G= (p.Ser255=) c.89G= (p.Ser30=) n.829G= | |
| 5 | g.74705313G>T | CA360065791 | HEXB | c.764G>T (p.Ser255Ile) c.89G>T (p.Ser30Ile) n.829G>T | |
| 5 | g.74705314C>A | CA360065792 | HEXB | c.765C>A (p.Ser255Arg) c.90C>A (p.Ser30Arg) n.830C>A | gnomAD v4 |
| 5 | g.74705314C= | CA1555768499 | HEXB | c.765C= (p.Ser255=) c.90C= (p.Ser30=) n.830C= | |
| 5 | g.74705314C>G | CA360065793 | HEXB | c.765C>G (p.Ser255Arg) c.90C>G (p.Ser30Arg) n.830C>G | dbSNP |
| 5 | g.74705314C>T | CA444847676 | HEXB | c.765C>T (p.Ser255=) c.90C>T (p.Ser30=) n.830C>T | |
| 5 | g.74705315A>C | CA360065794 | HEXB | c.766A>C (p.Asn256His) c.91A>C (p.Asn31His) n.831A>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.74705315A>G | CA360065795 | HEXB | c.766A>G (p.Asn256Asp) c.91A>G (p.Asn31Asp) n.831A>G | |
| 5 | g.74705315A>T | CA360065796 | HEXB | c.766A>T (p.Asn256Tyr) c.91A>T (p.Asn31Tyr) n.831A>T | |
| 5 | g.74705316A>C | CA360065797 | HEXB | c.767A>C (p.Asn256Thr) c.92A>C (p.Asn31Thr) n.832A>C | |
| 5 | g.74705316A>G | CA360065798 | HEXB | c.767A>G (p.Asn256Ser) c.92A>G (p.Asn31Ser) n.832A>G | gnomAD v4 |
| 5 | g.74705316A>T | CA360065799 | HEXB | c.767A>T (p.Asn256Ile) c.92A>T (p.Asn31Ile) n.832A>T | |
| 5 | g.74705317T>A | CA360065800 | HEXB | c.768T>A (p.Asn256Lys) c.93T>A (p.Asn31Lys) n.833T>A | gnomAD v4 |
| 5 | g.74705317T>C | CA444847677 | HEXB | c.768T>C (p.Asn256=) c.93T>C (p.Asn31=) n.833T>C | gnomAD v4 |
| 5 | g.74705317T>G | CA360065801 | HEXB | c.768T>G (p.Asn256Lys) c.93T>G (p.Asn31Lys) n.833T>G | |
| 5 | g.74705318A>C | CA360065802 | HEXB | c.769A>C (p.Lys257Gln) c.94A>C (p.Lys32Gln) n.834A>C | |
| 5 | g.74705318A>G | CA360065803 | HEXB | c.769A>G (p.Lys257Glu) c.94A>G (p.Lys32Glu) n.834A>G | gnomAD v4 |
| 5 | g.74705318A>T | CA360065804 | HEXB | c.769A>T (p.Lys257Ter) c.94A>T (p.Lys32Ter) n.834A>T | |
| 5 | g.74705319A= | CA1555768500 | HEXB | c.770A= (p.Lys257=) c.95A= (p.Lys32=) n.835A= | |
| 5 | g.74705319A>C | CA3305928 | HEXB | c.770A>C (p.Lys257Thr) c.95A>C (p.Lys32Thr) n.835A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705319A>G | CA360065806 | HEXB | c.770A>G (p.Lys257Arg) c.95A>G (p.Lys32Arg) n.835A>G | gnomAD v4 |
| 5 | g.74705319A>T | CA360065805 | HEXB | c.770A>T (p.Lys257Ile) c.95A>T (p.Lys32Ile) n.835A>T | |
| 5 | g.74705320A>C | CA360065807 | HEXB | c.771A>C (p.Lys257Asn) c.96A>C (p.Lys32Asn) n.836A>C | |
| 5 | g.74705320A>G | CA444847678 | HEXB | c.771A>G (p.Lys257=) c.96A>G (p.Lys32=) n.836A>G | |
| 5 | g.74705320A>T | CA360065808 | HEXB | c.771A>T (p.Lys257Asn) c.96A>T (p.Lys32Asn) n.836A>T | |
| 5 | g.74705321G>A | CA360065809 | HEXB | c.771+1G>A (n.771+1G>A) c.96+1G>A (n.96+1G>A) n.837G>A | gnomAD v4 |
| 5 | g.74705321G>C | CA360065810 | HEXB | c.771+1G>C (n.771+1G>C) c.96+1G>C (n.96+1G>C) n.837G>C | |
| 5 | g.74705321G>T | CA360065811 | HEXB | c.771+1G>T (n.771+1G>T) c.96+1G>T (n.96+1G>T) n.837G>T | |
| 5 | g.74705322T>A | CA360065812 | HEXB | c.771+2T>A (n.771+2T>A) c.96+2T>A (n.96+2T>A) n.838T>A | gnomAD v4 |
| 5 | g.74705322T>C | CA360065813 | HEXB | c.771+2T>C (n.771+2T>C) c.96+2T>C (n.96+2T>C) n.838T>C | gnomAD v4 |
| 5 | g.74705322T>G | CA360065814 | HEXB | c.771+2T>G (n.771+2T>G) c.96+2T>G (n.96+2T>G) n.838T>G | |
| 5 | g.74705323G>A | CA560364783 | HEXB | c.771+3G>A (n.771+3G>A) c.96+3G>A (n.96+3G>A) n.839G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.74705323G>C | CA2674238987 | HEXB | c.771+3G>C (n.771+3G>C) c.96+3G>C (n.96+3G>C) n.839G>C | gnomAD v4 |
| 5 | g.74705323G= | CA1555768501 | HEXB | c.771+3G= (n.771+3G=) c.96+3G= (n.96+3G=) n.839G= | |
| 5 | g.74705324A>T | CA2709215951 | HEXB | c.771+4A>T (n.771+4A>T) c.96+4A>T (n.96+4A>T) n.840A>T | dbSNP |
| 5 | g.74705325G>A | CA560364785 | HEXB | c.771+5G>A (n.771+5G>A) c.96+5G>A (n.96+5G>A) n.841G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74705325G>C | CA203234 | HEXB | c.771+5G>C (n.771+5G>C) c.96+5G>C (n.96+5G>C) n.841G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.74705325G= | CA1555768502 | HEXB | c.771+5G= (n.771+5G=) c.96+5G= (n.96+5G=) n.841G= |