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 |
|---|---|---|---|---|---|
| 10 | g.80276390T>A | CA5576720 | MAT1A | c.754A>T (p.Ile252Phe) c.631A>T (p.Ile211Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276390T>C | CA377361593 | MAT1A | c.754A>G (p.Ile252Val) c.631A>G (p.Ile211Val) | gnomAD v4 |
| 10 | g.80276390T>G | CA377361597 | MAT1A | c.754A>C (p.Ile252Leu) c.631A>C (p.Ile211Leu) | |
| 10 | g.80276390T= | CA1922574497 | MAT1A | c.754A= (p.Ile252=) c.631A= (p.Ile211=) | |
| 10 | g.80276391G>A | CA5576721 | MAT1A | c.753C>T (p.Val251=) c.630C>T (p.Val210=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276391G>C | CA470467434 | MAT1A | c.753C>G (p.Val251=) c.630C>G (p.Val210=) | |
| 10 | g.80276391G= | CA1922574499 | MAT1A | c.753C= (p.Val251=) c.630C= (p.Val210=) | |
| 10 | g.80276391G>T | CA470467435 | MAT1A | c.753C>A (p.Val251=) c.630C>A (p.Val210=) | gnomAD v4 |
| 10 | g.80276392A= | CA1922574500 | MAT1A | c.752T= (p.Val251=) c.629T= (p.Val210=) | |
| 10 | g.80276392A>C | CA377361602 | MAT1A | c.752T>G (p.Val251Gly) c.629T>G (p.Val210Gly) | |
| 10 | g.80276392A>G | CA377361604 | MAT1A | c.752T>C (p.Val251Ala) c.629T>C (p.Val210Ala) | |
| 10 | g.80276392A>T | CA377361606 | MAT1A | c.752T>A (p.Val251Asp) c.629T>A (p.Val210Asp) | dbSNP |
| 10 | g.80276393C>A | CA377361613 | MAT1A | c.751G>T (p.Val251Phe) c.628G>T (p.Val210Phe) | |
| 10 | g.80276393C>G | CA377361615 | MAT1A | c.751G>C (p.Val251Leu) c.628G>C (p.Val210Leu) | |
| 10 | g.80276393C>T | CA377361610 | MAT1A | c.751G>A (p.Val251Ile) c.628G>A (p.Val210Ile) | gnomAD v4 |
| 10 | g.80276394A>C | CA377361618 | MAT1A | c.750T>G (p.Phe250Leu) c.627T>G (p.Phe209Leu) | |
| 10 | g.80276394A>G | CA470467436 | MAT1A | c.750T>C (p.Phe250=) c.627T>C (p.Phe209=) | |
| 10 | g.80276394A>T | CA377361624 | MAT1A | c.750T>A (p.Phe250Leu) c.627T>A (p.Phe209Leu) | |
| 10 | g.80276395A>C | CA377361626 | MAT1A | c.749T>G (p.Phe250Cys) c.626T>G (p.Phe209Cys) | |
| 10 | g.80276395A>G | CA377361627 | MAT1A | c.749T>C (p.Phe250Ser) c.626T>C (p.Phe209Ser) | |
| 10 | g.80276395A>T | CA377361630 | MAT1A | c.749T>A (p.Phe250Tyr) c.626T>A (p.Phe209Tyr) | |
| 10 | g.80276396A>C | CA377361632 | MAT1A | c.748T>G (p.Phe250Val) c.625T>G (p.Phe209Val) | |
| 10 | g.80276396A>G | CA377361634 | MAT1A | c.748T>C (p.Phe250Leu) c.625T>C (p.Phe209Leu) | COSMIC |
| 10 | g.80276396A>T | CA377361637 | MAT1A | c.748T>A (p.Phe250Ile) c.625T>A (p.Phe209Ile) | |
| 10 | g.80276397C>A | CA470467439 | MAT1A | c.747G>T (p.Arg249=) c.624G>T (p.Arg208=) | gnomAD v4 |
| 10 | g.80276397C>G | CA470467438 | MAT1A | c.747G>C (p.Arg249=) c.624G>C (p.Arg208=) | |
| 10 | g.80276397C>T | CA470467437 | MAT1A | c.747G>A (p.Arg249=) c.624G>A (p.Arg208=) | gnomAD v4 |
| 10 | g.80276398C>A | CA377361639 | MAT1A | c.746G>T (p.Arg249Leu) c.623G>T (p.Arg208Leu) | |
| 10 | g.80276398C= | CA1922574502 | MAT1A | c.746G= (p.Arg249=) c.623G= (p.Arg208=) | |
| 10 | g.80276398C>G | CA377361643 | MAT1A | c.746G>C (p.Arg249Pro) c.623G>C (p.Arg208Pro) | |
| 10 | g.80276398C>T | CA5576722 | MAT1A | c.746G>A (p.Arg249Gln) c.623G>A (p.Arg208Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276399G>A | CA5576723 | MAT1A | c.745C>T (p.Arg249Trp) c.622C>T (p.Arg208Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276399G>C | CA377361649 | MAT1A | c.745C>G (p.Arg249Gly) c.622C>G (p.Arg208Gly) | |
| 10 | g.80276399G= | CA1922574504 | MAT1A | c.745C= (p.Arg249=) c.622C= (p.Arg208=) | |
| 10 | g.80276399G>T | CA210323684 | MAT1A | c.745C>A (p.Arg249=) c.622C>A (p.Arg208=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276400C>A | CA470467440 | MAT1A | c.744G>T (p.Gly248=) c.621G>T (p.Gly207=) | |
| 10 | g.80276400C>G | CA470467441 | MAT1A | c.744G>C (p.Gly248=) c.621G>C (p.Gly207=) | |
| 10 | g.80276400C>T | CA470467442 | MAT1A | c.744G>A (p.Gly248=) c.621G>A (p.Gly207=) | |
| 10 | g.80276401C>A | CA377361665 | MAT1A | c.743G>T (p.Gly248Val) c.620G>T (p.Gly207Val) | |
| 10 | g.80276401C>G | CA377361666 | MAT1A | c.743G>C (p.Gly248Ala) c.620G>C (p.Gly207Ala) | |
| 10 | g.80276401C>T | CA377361661 | MAT1A | c.743G>A (p.Gly248Glu) c.620G>A (p.Gly207Glu) | |
| 10 | g.80276402C>A | CA377361668 | MAT1A | c.742G>T (p.Gly248Trp) c.619G>T (p.Gly207Trp) | |
| 10 | g.80276402C= | CA1922574505 | MAT1A | c.742G= (p.Gly248=) c.619G= (p.Gly207=) | |
| 10 | g.80276402C>G | CA377361672 | MAT1A | c.742G>C (p.Gly248Arg) c.619G>C (p.Gly207Arg) | |
| 10 | g.80276402C>T | CA377361675 | MAT1A | c.742G>A (p.Gly248Arg) c.619G>A (p.Gly207Arg) | dbSNP |
| 10 | g.80276403A>C | CA377361677 | MAT1A | c.741T>G (p.Ser247Arg) c.618T>G (p.Ser206Arg) | |
| 10 | g.80276403A>G | CA470467443 | MAT1A | c.741T>C (p.Ser247=) c.618T>C (p.Ser206=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.80276403A>T | CA377361680 | MAT1A | c.741T>A (p.Ser247Arg) c.618T>A (p.Ser206Arg) | gnomAD v4 |
| 10 | g.80276404C>A | CA377361686 | MAT1A | c.740G>T (p.Ser247Ile) c.617G>T (p.Ser206Ile) | |
| 10 | g.80276404C= | CA1922574507 | MAT1A | c.740G= (p.Ser247=) c.617G= (p.Ser206=) | |
| 10 | g.80276404C>G | CA377361683 | MAT1A | c.740G>C (p.Ser247Thr) c.617G>C (p.Ser206Thr) | |
| 10 | g.80276404C>T | CA377361682 | MAT1A | c.740G>A (p.Ser247Asn) c.617G>A (p.Ser206Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276405T>A | CA377361689 | MAT1A | c.739A>T (p.Ser247Cys) c.616A>T (p.Ser206Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276405T>C | CA377361691 | MAT1A | c.739A>G (p.Ser247Gly) c.616A>G (p.Ser206Gly) | |
| 10 | g.80276405T>G | CA377361692 | MAT1A | c.739A>C (p.Ser247Arg) c.616A>C (p.Ser206Arg) | |
| 10 | g.80276405T= | CA1922574509 | MAT1A | c.739A= (p.Ser247=) c.616A= (p.Ser206=) | |
| 10 | g.80276406G>A | CA470467444 | MAT1A | c.738C>T (p.Pro246=) c.615C>T (p.Pro205=) | |
| 10 | g.80276406G>C | CA470467445 | MAT1A | c.738C>G (p.Pro246=) c.615C>G (p.Pro205=) | |
| 10 | g.80276406G>T | CA470467446 | MAT1A | c.738C>A (p.Pro246=) c.615C>A (p.Pro205=) | |
| 10 | g.80276407G>A | CA377361695 | MAT1A | c.737C>T (p.Pro246Leu) c.614C>T (p.Pro205Leu) | |
| 10 | g.80276407G>C | CA377361698 | MAT1A | c.737C>G (p.Pro246Arg) c.614C>G (p.Pro205Arg) | |
| 10 | g.80276407G>T | CA377361701 | MAT1A | c.737C>A (p.Pro246His) c.614C>A (p.Pro205His) | |
| 10 | g.80276408G>A | CA377361705 | MAT1A | c.736C>T (p.Pro246Ser) c.613C>T (p.Pro205Ser) | gnomAD v4 |
| 10 | g.80276408G>C | CA377361711 | MAT1A | c.736C>G (p.Pro246Ala) c.613C>G (p.Pro205Ala) | |
| 10 | g.80276408G>T | CA377361707 | MAT1A | c.736C>A (p.Pro246Thr) c.613C>A (p.Pro205Thr) | |
| 10 | g.80276409C>A | CA377361714 | MAT1A | c.735G>T (p.Gln245His) c.612G>T (p.Gln204His) | COSMIC |
| 10 | g.80276409C>G | CA377361717 | MAT1A | c.735G>C (p.Gln245His) c.612G>C (p.Gln204His) | |
| 10 | g.80276409C>T | CA470467447 | MAT1A | c.735G>A (p.Gln245=) c.612G>A (p.Gln204=) | |
| 10 | g.80276409_80276410del | CA913203490 | MAT1A | c.734_735del (p.Gln245ProfsTer20) c.611_612del (p.Gln204ProfsTer20) | |
| 10 | g.80276410T>A | CA377361724 | MAT1A | c.734A>T (p.Gln245Leu) c.611A>T (p.Gln204Leu) | |
| 10 | g.80276410T>C | CA377361729 | MAT1A | c.734A>G (p.Gln245Arg) c.611A>G (p.Gln204Arg) | |
| 10 | g.80276410T>G | CA377361726 | MAT1A | c.734A>C (p.Gln245Pro) c.611A>C (p.Gln204Pro) | |
| 10 | g.80276411G>A | CA377361735 | MAT1A | c.733C>T (p.Gln245Ter) c.610C>T (p.Gln204Ter) | |
| 10 | g.80276411G>C | CA377361737 | MAT1A | c.733C>G (p.Gln245Glu) c.610C>G (p.Gln204Glu) | |
| 10 | g.80276411G>T | CA377361740 | MAT1A | c.733C>A (p.Gln245Lys) c.610C>A (p.Gln204Lys) | |
| 10 | g.80276412C>A | CA470467448 | MAT1A | c.732G>T (p.Leu244=) c.609G>T (p.Leu203=) | |
| 10 | g.80276412C= | CA1922574511 | MAT1A | c.732G= (p.Leu244=) c.609G= (p.Leu203=) | |
| 10 | g.80276412C>G | CA5576724 | MAT1A | c.732G>C (p.Leu244=) c.609G>C (p.Leu203=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276412C>T | CA470467449 | MAT1A | c.732G>A (p.Leu244=) c.609G>A (p.Leu203=) | gnomAD v4 |
| 10 | g.80276413A>C | CA377361746 | MAT1A | c.731T>G (p.Leu244Arg) c.608T>G (p.Leu203Arg) | |
| 10 | g.80276413A>G | CA377361748 | MAT1A | c.731T>C (p.Leu244Pro) c.608T>C (p.Leu203Pro) | |
| 10 | g.80276413A>T | CA377361750 | MAT1A | c.731T>A (p.Leu244Gln) c.608T>A (p.Leu203Gln) | |
| 10 | g.80276414G>A | CA470467450 | MAT1A | c.730C>T (p.Leu244=) c.607C>T (p.Leu203=) | |
| 10 | g.80276414G>C | CA377361753 | MAT1A | c.730C>G (p.Leu244Val) c.607C>G (p.Leu203Val) | |
| 10 | g.80276414G>T | CA377361755 | MAT1A | c.730C>A (p.Leu244Met) c.607C>A (p.Leu203Met) | |
| 10 | g.80276415G>A | CA470467451 | MAT1A | c.729C>T (p.His243=) c.606C>T (p.His202=) | gnomAD v4 |
| 10 | g.80276415G>C | CA377361758 | MAT1A | c.729C>G (p.His243Gln) c.606C>G (p.His202Gln) | |
| 10 | g.80276415G>T | CA377361761 | MAT1A | c.729C>A (p.His243Gln) c.606C>A (p.His202Gln) | gnomAD v4 |
| 10 | g.80276416T>A | CA377361765 | MAT1A | c.728A>T (p.His243Leu) c.605A>T (p.His202Leu) | |
| 10 | g.80276416T>C | CA377361764 | MAT1A | c.728A>G (p.His243Arg) c.605A>G (p.His202Arg) | gnomAD v4 |
| 10 | g.80276416T>G | CA377361763 | MAT1A | c.728A>C (p.His243Pro) c.605A>C (p.His202Pro) | |
| 10 | g.80276417G>A | CA377361766 | MAT1A | c.727C>T (p.His243Tyr) c.604C>T (p.His202Tyr) | |
| 10 | g.80276417G>C | CA377361769 | MAT1A | c.727C>G (p.His243Asp) c.604C>G (p.His202Asp) | |
| 10 | g.80276417G>T | CA377361771 | MAT1A | c.727C>A (p.His243Asn) c.604C>A (p.His202Asn) | |
| 10 | g.80276418G>A | CA470467452 | MAT1A | c.726C>T (p.Tyr242=) c.603C>T (p.Tyr201=) | |
| 10 | g.80276418G>C | CA377361772 | MAT1A | c.726C>G (p.Tyr242Ter) c.603C>G (p.Tyr201Ter) | |
| 10 | g.80276418G>T | CA377361773 | MAT1A | c.726C>A (p.Tyr242Ter) c.603C>A (p.Tyr201Ter) | |
| 10 | g.80276419T>A | CA377361775 | MAT1A | c.725A>T (p.Tyr242Phe) c.602A>T (p.Tyr201Phe) | |
| 10 | g.80276419T>C | CA377361777 | MAT1A | c.725A>G (p.Tyr242Cys) c.602A>G (p.Tyr201Cys) | |
| 10 | g.80276419T>G | CA377361778 | MAT1A | c.725A>C (p.Tyr242Ser) c.602A>C (p.Tyr201Ser) | |
| 10 | g.80276419dup | CA2609913673 | MAT1A | c.725dup (p.Tyr242Ter) c.602dup (p.Tyr201Ter) | gnomAD v4 |
| 10 | g.80276420A>C | CA377361780 | MAT1A | c.724T>G (p.Tyr242Asp) c.601T>G (p.Tyr201Asp) | |
| 10 | g.80276420A>G | CA377361781 | MAT1A | c.724T>C (p.Tyr242His) c.601T>C (p.Tyr201His) | |
| 10 | g.80276420A>T | CA377361782 | MAT1A | c.724T>A (p.Tyr242Asn) c.601T>A (p.Tyr201Asn) | |
| 10 | g.80276421G>A | CA470467453 | MAT1A | c.723C>T (p.Val241=) c.600C>T (p.Val200=) | |
| 10 | g.80276421G>C | CA5576725 | MAT1A | c.723C>G (p.Val241=) c.600C>G (p.Val200=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276421G= | CA1922574514 | MAT1A | c.723C= (p.Val241=) c.600C= (p.Val200=) | |
| 10 | g.80276421G>T | CA470467454 | MAT1A | c.723C>A (p.Val241=) c.600C>A (p.Val200=) | |
| 10 | g.80276422A= | CA1922574516 | MAT1A | c.722T= (p.Val241=) c.599T= (p.Val200=) | |
| 10 | g.80276422A>C | CA377361788 | MAT1A | c.722T>G (p.Val241Gly) c.599T>G (p.Val200Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276422A>G | CA377361787 | MAT1A | c.722T>C (p.Val241Ala) c.599T>C (p.Val200Ala) | COSMIC |
| 10 | g.80276422A>T | CA377361785 | MAT1A | c.722T>A (p.Val241Asp) c.599T>A (p.Val200Asp) | |
| 10 | g.80276423C>A | CA210323692 | MAT1A | c.721G>T (p.Val241Phe) c.598G>T (p.Val200Phe) | dbSNP |
| 10 | g.80276423C= | CA1922574518 | MAT1A | c.721G= (p.Val241=) c.598G= (p.Val200=) | |
| 10 | g.80276423C>G | CA377361790 | MAT1A | c.721G>C (p.Val241Leu) c.598G>C (p.Val200Leu) | |
| 10 | g.80276423C>T | CA5576726 | MAT1A | c.721G>A (p.Val241Ile) c.598G>A (p.Val200Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80276424G>A | CA5576727 | MAT1A | c.720C>T (p.Thr240=) c.597C>T (p.Thr199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80276424G>C | CA470467455 | MAT1A | c.720C>G (p.Thr240=) c.597C>G (p.Thr199=) | |
| 10 | g.80276424G= | CA1922574524 | MAT1A | c.720C= (p.Thr240=) c.597C= (p.Thr199=) | |
| 10 | g.80276424G>T | CA470467456 | MAT1A | c.720C>A (p.Thr240=) c.597C>A (p.Thr199=) | |
| 10 | g.80276425G>A | CA210323714 | MAT1A | c.719C>T (p.Thr240Ile) c.596C>T (p.Thr199Ile) | dbSNP |
| 10 | g.80276425G>C | CA377361794 | MAT1A | c.719C>G (p.Thr240Ser) c.596C>G (p.Thr199Ser) | |
| 10 | g.80276425G= | CA1922574527 | MAT1A | c.719C= (p.Thr240=) c.596C= (p.Thr199=) | |
| 10 | g.80276425G>T | CA210323720 | MAT1A | c.719C>A (p.Thr240Asn) c.596C>A (p.Thr199Asn) | dbSNP |
| 10 | g.80276426T>A | CA377361800 | MAT1A | c.718A>T (p.Thr240Ser) c.595A>T (p.Thr199Ser) | |
| 10 | g.80276426T>C | CA377361796 | MAT1A | c.718A>G (p.Thr240Ala) c.595A>G (p.Thr199Ala) | gnomAD v4 |
| 10 | g.80276426T>G | CA377361798 | MAT1A | c.718A>C (p.Thr240Pro) c.595A>C (p.Thr199Pro) | |
| 10 | g.80276427G>A | CA470467457 | MAT1A | c.717C>T (p.Asp239=) c.594C>T (p.Asp198=) | |
| 10 | g.80276427G>C | CA377361801 | MAT1A | c.717C>G (p.Asp239Glu) c.594C>G (p.Asp198Glu) | |
| 10 | g.80276427G>T | CA377361803 | MAT1A | c.717C>A (p.Asp239Glu) c.594C>A (p.Asp198Glu) | |
| 10 | g.80276428T>A | CA377361804 | MAT1A | c.716A>T (p.Asp239Val) c.593A>T (p.Asp198Val) | |
| 10 | g.80276428T>C | CA377361806 | MAT1A | c.716A>G (p.Asp239Gly) c.593A>G (p.Asp198Gly) | |
| 10 | g.80276428T>G | CA377361808 | MAT1A | c.716A>C (p.Asp239Ala) c.593A>C (p.Asp198Ala) | |
| 10 | g.80276429C>A | CA377361809 | MAT1A | c.715G>T (p.Asp239Tyr) c.592G>T (p.Asp198Tyr) | |
| 10 | g.80276429C>G | CA377361812 | MAT1A | c.715G>C (p.Asp239His) c.592G>C (p.Asp198His) | |
| 10 | g.80276429C>T | CA377361810 | MAT1A | c.715G>A (p.Asp239Asn) c.592G>A (p.Asp198Asn) | |
| 10 | g.80276430T>A | CA377361814 | MAT1A | c.714A>T (p.Glu238Asp) c.591A>T (p.Glu197Asp) | |
| 10 | g.80276430T>C | CA470467458 | MAT1A | c.714A>G (p.Glu238=) c.591A>G (p.Glu197=) | |
| 10 | g.80276430T>G | CA377361815 | MAT1A | c.714A>C (p.Glu238Asp) c.591A>C (p.Glu197Asp) | |
| 10 | g.80276431T>A | CA377361816 | MAT1A | c.713A>T (p.Glu238Val) c.590A>T (p.Glu197Val) | |
| 10 | g.80276431T>C | CA377361818 | MAT1A | c.713A>G (p.Glu238Gly) c.590A>G (p.Glu197Gly) | |
| 10 | g.80276431T>G | CA377361820 | MAT1A | c.713A>C (p.Glu238Ala) c.590A>C (p.Glu197Ala) | COSMIC |
| 10 | g.80276432C>A | CA377361822 | MAT1A | c.712G>T (p.Glu238Ter) c.589G>T (p.Glu197Ter) | |
| 10 | g.80276432C= | CA1922574533 | MAT1A | c.712G= (p.Glu238=) c.589G= (p.Glu197=) | |
| 10 | g.80276432C>G | CA377361823 | MAT1A | c.712G>C (p.Glu238Gln) c.589G>C (p.Glu197Gln) | |
| 10 | g.80276432C>T | CA5576728 | MAT1A | c.712G>A (p.Glu238Lys) c.589G>A (p.Glu197Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80276433G>A | CA5576729 | MAT1A | c.711C>T (p.Asp237=) c.588C>T (p.Asp196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80276433G>C | CA377361826 | MAT1A | c.711C>G (p.Asp237Glu) c.588C>G (p.Asp196Glu) | |
| 10 | g.80276433G= | CA1922574538 | MAT1A | c.711C= (p.Asp237=) c.588C= (p.Asp196=) | |
| 10 | g.80276433G>T | CA377361827 | MAT1A | c.711C>A (p.Asp237Glu) c.588C>A (p.Asp196Glu) | |
| 10 | g.80276434T>A | CA377361831 | MAT1A | c.710A>T (p.Asp237Val) c.587A>T (p.Asp196Val) | |
| 10 | g.80276434T>C | CA377361833 | MAT1A | c.710A>G (p.Asp237Gly) c.587A>G (p.Asp196Gly) | |
| 10 | g.80276434T>G | CA377361829 | MAT1A | c.710A>C (p.Asp237Ala) c.587A>C (p.Asp196Ala) | |
| 10 | g.80276435C>A | CA377361834 | MAT1A | c.709G>T (p.Asp237Tyr) c.586G>T (p.Asp196Tyr) | |
| 10 | g.80276435C>G | CA377361838 | MAT1A | c.709G>C (p.Asp237His) c.586G>C (p.Asp196His) | |
| 10 | g.80276435C>T | CA377361835 | MAT1A | c.709G>A (p.Asp237Asn) c.586G>A (p.Asp196Asn) | gnomAD v4 |
| 10 | g.80276436C>A | CA470467459 | MAT1A | c.708G>T (p.Leu236=) c.585G>T (p.Leu195=) | |
| 10 | g.80276436C>G | CA470467460 | MAT1A | c.708G>C (p.Leu236=) c.585G>C (p.Leu195=) | |
| 10 | g.80276436C>T | CA470467461 | MAT1A | c.708G>A (p.Leu236=) c.585G>A (p.Leu195=) | gnomAD v4 |
| 10 | g.80276437A>C | CA377361841 | MAT1A | c.707T>G (p.Leu236Arg) c.584T>G (p.Leu195Arg) | |
| 10 | g.80276437A>G | CA377361844 | MAT1A | c.707T>C (p.Leu236Pro) c.584T>C (p.Leu195Pro) | |
| 10 | g.80276437A>T | CA377361845 | MAT1A | c.707T>A (p.Leu236Gln) c.584T>A (p.Leu195Gln) | |
| 10 | g.80276438G>A | CA470467462 | MAT1A | c.706C>T (p.Leu236=) c.583C>T (p.Leu195=) | |
| 10 | g.80276438G>C | CA377361849 | MAT1A | c.706C>G (p.Leu236Val) c.583C>G (p.Leu195Val) | |
| 10 | g.80276438G= | CA1922574540 | MAT1A | c.706C= (p.Leu236=) c.583C= (p.Leu195=) | |
| 10 | g.80276438G>T | CA5576730 | MAT1A | c.706C>A (p.Leu236Met) c.583C>A (p.Leu195Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276440_80276450del | CA2609913675 | MAT1A | c.696_706del (p.Ala233GlyfsTer29) c.573_583del (p.Ala192GlyfsTer29) | gnomAD v4 |
| 10 | g.80276439G>A | CA5576731 | MAT1A | c.705C>T (p.Tyr235=) c.582C>T (p.Tyr194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276439G>C | CA377361858 | MAT1A | c.705C>G (p.Tyr235Ter) c.582C>G (p.Tyr194Ter) | |
| 10 | g.80276439G= | CA1922574544 | MAT1A | c.705C= (p.Tyr235=) c.582C= (p.Tyr194=) | |
| 10 | g.80276439G>T | CA377361860 | MAT1A | c.705C>A (p.Tyr235Ter) c.582C>A (p.Tyr194Ter) | ClinVar dbSNP |
| 10 | g.80276440T>A | CA377361863 | MAT1A | c.704A>T (p.Tyr235Phe) c.581A>T (p.Tyr194Phe) | |
| 10 | g.80276440T>C | CA377361866 | MAT1A | c.704A>G (p.Tyr235Cys) c.581A>G (p.Tyr194Cys) | gnomAD v4 |
| 10 | g.80276440T>G | CA377361868 | MAT1A | c.704A>C (p.Tyr235Ser) c.581A>C (p.Tyr194Ser) | |
| 10 | g.80276441A>C | CA377361875 | MAT1A | c.703T>G (p.Tyr235Asp) c.580T>G (p.Tyr194Asp) | |
| 10 | g.80276441A>G | CA377361874 | MAT1A | c.703T>C (p.Tyr235His) c.580T>C (p.Tyr194His) | |
| 10 | g.80276441A>T | CA377361871 | MAT1A | c.703T>A (p.Tyr235Asn) c.580T>A (p.Tyr194Asn) | |
| 10 | g.80276442C>A | CA377361877 | MAT1A | c.702G>T (p.Lys234Asn) c.579G>T (p.Lys193Asn) | gnomAD v4 |
| 10 | g.80276442C= | CA1922574547 | MAT1A | c.702G= (p.Lys234=) c.579G= (p.Lys193=) | |
| 10 | g.80276442C>G | CA377361878 | MAT1A | c.702G>C (p.Lys234Asn) c.579G>C (p.Lys193Asn) | dbSNP gnomAD v2 |
| 10 | g.80276442C>T | CA470467463 | MAT1A | c.702G>A (p.Lys234=) c.579G>A (p.Lys193=) | |
| 10 | g.80276443T>A | CA377361881 | MAT1A | c.701A>T (p.Lys234Met) c.578A>T (p.Lys193Met) | |
| 10 | g.80276443T>C | CA377361884 | MAT1A | c.701A>G (p.Lys234Arg) c.578A>G (p.Lys193Arg) | gnomAD v4 |
| 10 | g.80276443T>G | CA210323740 | MAT1A | c.701A>C (p.Lys234Thr) c.578A>C (p.Lys193Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276443T= | CA1922574550 | MAT1A | c.701A= (p.Lys234=) c.578A= (p.Lys193=) | |
| 10 | g.80276444T>A | CA377361889 | MAT1A | c.700A>T (p.Lys234Ter) c.577A>T (p.Lys193Ter) | |
| 10 | g.80276444T>C | CA377361891 | MAT1A | c.700A>G (p.Lys234Glu) c.577A>G (p.Lys193Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276444T>G | CA377361893 | MAT1A | c.700A>C (p.Lys234Gln) c.577A>C (p.Lys193Gln) | |
| 10 | g.80276444T= | CA1922574552 | MAT1A | c.700A= (p.Lys234=) c.577A= (p.Lys193=) | |
| 10 | g.80276445G>A | CA470467465 | MAT1A | c.699C>T (p.Ala233=) c.576C>T (p.Ala192=) | |
| 10 | g.80276445G>C | CA470467464 | MAT1A | c.699C>G (p.Ala233=) c.576C>G (p.Ala192=) | |
| 10 | g.80276445G= | CA1922574554 | MAT1A | c.699C= (p.Ala233=) c.576C= (p.Ala192=) | |
| 10 | g.80276445G>T | CA470467466 | MAT1A | c.699C>A (p.Ala233=) c.576C>A (p.Ala192=) | dbSNP gnomAD v4 |
| 10 | g.80276446G>A | CA377361896 | MAT1A | c.698C>T (p.Ala233Val) c.575C>T (p.Ala192Val) | |
| 10 | g.80276446G>C | CA377361897 | MAT1A | c.698C>G (p.Ala233Gly) c.575C>G (p.Ala192Gly) | |
| 10 | g.80276446G>T | CA377361900 | MAT1A | c.698C>A (p.Ala233Asp) c.575C>A (p.Ala192Asp) | gnomAD v4 |
| 10 | g.80276447C>A | CA377361906 | MAT1A | c.697G>T (p.Ala233Ser) c.574G>T (p.Ala192Ser) | |
| 10 | g.80276447C= | CA1922574558 | MAT1A | c.697G= (p.Ala233=) c.574G= (p.Ala192=) | |
| 10 | g.80276447C>G | CA377361905 | MAT1A | c.697G>C (p.Ala233Pro) c.574G>C (p.Ala192Pro) | |
| 10 | g.80276447C>T | CA210323752 | MAT1A | c.697G>A (p.Ala233Thr) c.574G>A (p.Ala192Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276448C>A | CA470467467 | MAT1A | c.696G>T (p.Pro232=) c.573G>T (p.Pro191=) | |
| 10 | g.80276448C= | CA1922574563 | MAT1A | c.696G= (p.Pro232=) c.573G= (p.Pro191=) | |
| 10 | g.80276448C>G | CA470467468 | MAT1A | c.696G>C (p.Pro232=) c.573G>C (p.Pro191=) | |
| 10 | g.80276448C>T | CA5576732 | MAT1A | c.696G>A (p.Pro232=) c.573G>A (p.Pro191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276449G>A | CA377361912 | MAT1A | c.695C>T (p.Pro232Leu) c.572C>T (p.Pro191Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276449G>C | CA377361913 | MAT1A | c.695C>G (p.Pro232Arg) c.572C>G (p.Pro191Arg) | |
| 10 | g.80276449G= | CA1922574566 | MAT1A | c.695C= (p.Pro232=) c.572C= (p.Pro191=) | |
| 10 | g.80276449G>T | CA377361915 | MAT1A | c.695C>A (p.Pro232Gln) c.572C>A (p.Pro191Gln) | |
| 10 | g.80276450G>A | CA377361917 | MAT1A | c.694C>T (p.Pro232Ser) c.571C>T (p.Pro191Ser) | |
| 10 | g.80276450G>C | CA377361919 | MAT1A | c.694C>G (p.Pro232Ala) c.571C>G (p.Pro191Ala) | |
| 10 | g.80276450G>T | CA377361920 | MAT1A | c.694C>A (p.Pro232Thr) c.571C>A (p.Pro191Thr) | |
| 10 | g.80276451C>A | CA470467469 | MAT1A | c.693G>T (p.Val231=) c.570G>T (p.Val190=) | |
| 10 | g.80276451C>G | CA470467470 | MAT1A | c.693G>C (p.Val231=) c.570G>C (p.Val190=) | |
| 10 | g.80276451C>T | CA470467471 | MAT1A | c.693G>A (p.Val231=) c.570G>A (p.Val190=) | |
| 10 | g.80276452A>C | CA377361923 | MAT1A | c.692T>G (p.Val231Gly) c.569T>G (p.Val190Gly) | |
| 10 | g.80276452A>G | CA377361924 | MAT1A | c.692T>C (p.Val231Ala) c.569T>C (p.Val190Ala) | gnomAD v4 |
| 10 | g.80276452A>T | CA377361926 | MAT1A | c.692T>A (p.Val231Glu) c.569T>A (p.Val190Glu) | |
| 10 | g.80276453C>A | CA210323784 | MAT1A | c.691G>T (p.Val231Leu) c.568G>T (p.Val190Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276453C= | CA1922574570 | MAT1A | c.691G= (p.Val231=) c.568G= (p.Val190=) | |
| 10 | g.80276453C>G | CA377361932 | MAT1A | c.691G>C (p.Val231Leu) c.568G>C (p.Val190Leu) | |
| 10 | g.80276453C>T | CA377361934 | MAT1A | c.691G>A (p.Val231Met) c.568G>A (p.Val190Met) | ClinVar |
| 10 | g.80276454C>A | CA470467473 | MAT1A | c.690G>T (p.Val230=) c.567G>T (p.Val189=) | |
| 10 | g.80276454C= | CA1922574571 | MAT1A | c.690G= (p.Val230=) c.567G= (p.Val189=) | |
| 10 | g.80276454C>G | CA470467474 | MAT1A | c.690G>C (p.Val230=) c.567G>C (p.Val189=) | |
| 10 | g.80276454C>T | CA5576733 | MAT1A | c.690G>A (p.Val230=) c.567G>A (p.Val189=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276455A>C | CA377361937 | MAT1A | c.689T>G (p.Val230Gly) c.566T>G (p.Val189Gly) | |
| 10 | g.80276455A>G | CA377361939 | MAT1A | c.689T>C (p.Val230Ala) c.566T>C (p.Val189Ala) | |
| 10 | g.80276455A>T | CA377361940 | MAT1A | c.689T>A (p.Val230Glu) c.566T>A (p.Val189Glu) | |
| 10 | g.80276456C>A | CA377361941 | MAT1A | c.688G>T (p.Val230Leu) c.565G>T (p.Val189Leu) | |
| 10 | g.80276456C= | CA1922574573 | MAT1A | c.688G= (p.Val230=) c.565G= (p.Val189=) | |
| 10 | g.80276456C>G | CA377361942 | MAT1A | c.688G>C (p.Val230Leu) c.565G>C (p.Val189Leu) | |
| 10 | g.80276456C>T | CA5576734 | MAT1A | c.688G>A (p.Val230Met) c.565G>A (p.Val189Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276457G>A | CA5576735 | MAT1A | c.687C>T (p.Ala229=) c.564C>T (p.Ala188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276457G>C | CA470467475 | MAT1A | c.687C>G (p.Ala229=) c.564C>G (p.Ala188=) | gnomAD v4 |
| 10 | g.80276457G= | CA1922574576 | MAT1A | c.687C= (p.Ala229=) c.564C= (p.Ala188=) | |
| 10 | g.80276457G>T | CA470467476 | MAT1A | c.687C>A (p.Ala229=) c.564C>A (p.Ala188=) | |
| 10 | g.80276458G>A | CA377361943 | MAT1A | c.686C>T (p.Ala229Val) c.563C>T (p.Ala188Val) | |
| 10 | g.80276458G>C | CA377361944 | MAT1A | c.686C>G (p.Ala229Gly) c.563C>G (p.Ala188Gly) | gnomAD v4 |
| 10 | g.80276458G>T | CA377361946 | MAT1A | c.686C>A (p.Ala229Asp) c.563C>A (p.Ala188Asp) | |
| 10 | g.80276459C>A | CA377361948 | MAT1A | c.685G>T (p.Ala229Ser) c.562G>T (p.Ala188Ser) | |
| 10 | g.80276459C>G | CA377361950 | MAT1A | c.685G>C (p.Ala229Pro) c.562G>C (p.Ala188Pro) | gnomAD v4 |
| 10 | g.80276459C>T | CA377361951 | MAT1A | c.685G>A (p.Ala229Thr) c.562G>A (p.Ala188Thr) | |
| 10 | g.80276460C>A | CA377361954 | MAT1A | c.684G>T (p.Arg228Ser) c.561G>T (p.Arg187Ser) | |
| 10 | g.80276460C>G | CA377361953 | MAT1A | c.684G>C (p.Arg228Ser) c.561G>C (p.Arg187Ser) | |
| 10 | g.80276460C>T | CA470467477 | MAT1A | c.684G>A (p.Arg228=) c.561G>A (p.Arg187=) | |
| 10 | g.80276461C>A | CA377361956 | MAT1A | c.683G>T (p.Arg228Met) c.560G>T (p.Arg187Met) | |
| 10 | g.80276461C= | CA1922574580 | MAT1A | c.683G= (p.Arg228=) c.560G= (p.Arg187=) | |
| 10 | g.80276461C>G | CA377361959 | MAT1A | c.683G>C (p.Arg228Thr) c.560G>C (p.Arg187Thr) | |
| 10 | g.80276461C>T | CA377361957 | MAT1A | c.683G>A (p.Arg228Lys) c.560G>A (p.Arg187Lys) | ClinVar dbSNP gnomAD v2 |
| 10 | g.80276462T>A | CA377361961 | MAT1A | c.682A>T (p.Arg228Trp) c.559A>T (p.Arg187Trp) | |
| 10 | g.80276462T>C | CA210323801 | MAT1A | c.682A>G (p.Arg228Gly) c.559A>G (p.Arg187Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276462T>G | CA5576736 | MAT1A | c.682A>C (p.Arg228=) c.559A>C (p.Arg187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276462T= | CA1922574585 | MAT1A | c.682A= (p.Arg228=) c.559A= (p.Arg187=) | |
| 10 | g.80276463G>A | CA470467478 | MAT1A | c.681C>T (p.Ile227=) c.558C>T (p.Ile186=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276463G>C | CA377361965 | MAT1A | c.681C>G (p.Ile227Met) c.558C>G (p.Ile186Met) | ClinVar dbSNP |
| 10 | g.80276463G= | CA1922574590 | MAT1A | c.681C= (p.Ile227=) c.558C= (p.Ile186=) | |
| 10 | g.80276463G>T | CA470467479 | MAT1A | c.681C>A (p.Ile227=) c.558C>A (p.Ile186=) | |
| 10 | g.80276463dup | CA594711883 | MAT1A | c.681dup (p.Arg228GlnfsTer?) c.558dup (p.Arg187GlnfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276464A>C | CA377361967 | MAT1A | c.680T>G (p.Ile227Ser) c.557T>G (p.Ile186Ser) | |
| 10 | g.80276464A>G | CA377361969 | MAT1A | c.680T>C (p.Ile227Thr) c.557T>C (p.Ile186Thr) | |
| 10 | g.80276464A>T | CA377361971 | MAT1A | c.680T>A (p.Ile227Asn) c.557T>A (p.Ile186Asn) | |
| 10 | g.80276465T>A | CA377361973 | MAT1A | c.679A>T (p.Ile227Phe) c.556A>T (p.Ile186Phe) | |
| 10 | g.80276465T>C | CA377361975 | MAT1A | c.679A>G (p.Ile227Val) c.556A>G (p.Ile186Val) | |
| 10 | g.80276465T>G | CA377361977 | MAT1A | c.679A>C (p.Ile227Leu) c.556A>C (p.Ile186Leu) | |
| 10 | g.80276466G>A | CA470467483 | MAT1A | c.678C>T (p.Val226=) c.555C>T (p.Val185=) | |
| 10 | g.80276466G>C | CA470467482 | MAT1A | c.678C>G (p.Val226=) c.555C>G (p.Val185=) | |
| 10 | g.80276466G>T | CA470467481 | MAT1A | c.678C>A (p.Val226=) c.555C>A (p.Val185=) | gnomAD v4 COSMIC |
| 10 | g.80276467A>C | CA377361979 | MAT1A | c.677T>G (p.Val226Gly) c.554T>G (p.Val185Gly) | |
| 10 | g.80276467A>G | CA377361981 | MAT1A | c.677T>C (p.Val226Ala) c.554T>C (p.Val185Ala) | |
| 10 | g.80276467A>T | CA377361983 | MAT1A | c.677T>A (p.Val226Asp) c.554T>A (p.Val185Asp) | |
| 10 | g.80276467_80276470dup | CA2609913676 | MAT1A | c.674_677dup (p.Ile227SerfsTer?) c.551_554dup (p.Ile186SerfsTer?) | gnomAD v4 |
| 10 | g.80276468C>A | CA377361989 | MAT1A | c.676G>T (p.Val226Phe) c.553G>T (p.Val185Phe) | |
| 10 | g.80276468C= | CA1922574593 | MAT1A | c.676G= (p.Val226=) c.553G= (p.Val185=) | |
| 10 | g.80276468C>G | CA377361987 | MAT1A | c.676G>C (p.Val226Leu) c.553G>C (p.Val185Leu) | |
| 10 | g.80276468C>T | CA377361986 | MAT1A | c.676G>A (p.Val226Ile) c.553G>A (p.Val185Ile) | dbSNP |
| 10 | g.80276469T>A | CA377361991 | MAT1A | c.675A>T (p.Gln225His) c.552A>T (p.Gln184His) | gnomAD v4 |
| 10 | g.80276469T>C | CA470467486 | MAT1A | c.675A>G (p.Gln225=) c.552A>G (p.Gln184=) | |
| 10 | g.80276469T>G | CA377361994 | MAT1A | c.675A>C (p.Gln225His) c.552A>C (p.Gln184His) | COSMIC |
| 10 | g.80276470T>A | CA377361996 | MAT1A | c.674A>T (p.Gln225Leu) c.551A>T (p.Gln184Leu) | |
| 10 | g.80276470T>C | CA377361998 | MAT1A | c.674A>G (p.Gln225Arg) c.551A>G (p.Gln184Arg) | |
| 10 | g.80276470T>G | CA377362000 | MAT1A | c.674A>C (p.Gln225Pro) c.551A>C (p.Gln184Pro) | |
| 10 | g.80276471G>A | CA377362001 | MAT1A | c.673C>T (p.Gln225Ter) c.550C>T (p.Gln184Ter) | |
| 10 | g.80276471G>C | CA377362002 | MAT1A | c.673C>G (p.Gln225Glu) c.550C>G (p.Gln184Glu) | |
| 10 | g.80276471G>T | CA377362004 | MAT1A | c.673C>A (p.Gln225Lys) c.550C>A (p.Gln184Lys) | |
| 10 | g.80276472C>A | CA377362006 | MAT1A | c.672G>T (p.Glu224Asp) c.549G>T (p.Glu183Asp) | |
| 10 | g.80276472C= | CA1922574595 | MAT1A | c.672G= (p.Glu224=) c.549G= (p.Glu183=) | |
| 10 | g.80276472C>G | CA377362007 | MAT1A | c.672G>C (p.Glu224Asp) c.549G>C (p.Glu183Asp) | |
| 10 | g.80276472C>T | CA470467489 | MAT1A | c.672G>A (p.Glu224=) c.549G>A (p.Glu183=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276473T>A | CA377362009 | MAT1A | c.671A>T (p.Glu224Val) c.548A>T (p.Glu183Val) | |
| 10 | g.80276473T>C | CA377362011 | MAT1A | c.671A>G (p.Glu224Gly) c.548A>G (p.Glu183Gly) | |
| 10 | g.80276473T>G | CA377362013 | MAT1A | c.671A>C (p.Glu224Ala) c.548A>C (p.Glu183Ala) | |
| 10 | g.80276474C>A | CA377362018 | MAT1A | c.670G>T (p.Glu224Ter) c.547G>T (p.Glu183Ter) | |
| 10 | g.80276474C>G | CA377362019 | MAT1A | c.670G>C (p.Glu224Gln) c.547G>C (p.Glu183Gln) | |
| 10 | g.80276474C>T | CA377362016 | MAT1A | c.670G>A (p.Glu224Lys) c.547G>A (p.Glu183Lys) | gnomAD v4 |
| 10 | g.80276475C>A | CA377362022 | MAT1A | c.669G>T (p.Lys223Asn) c.546G>T (p.Lys182Asn) | |
| 10 | g.80276475C>G | CA377362023 | MAT1A | c.669G>C (p.Lys223Asn) c.546G>C (p.Lys182Asn) | |
| 10 | g.80276475C>T | CA470467490 | MAT1A | c.669G>A (p.Lys223=) c.546G>A (p.Lys182=) | dbSNP gnomAD v4 |
| 10 | g.80276476T>A | CA377362026 | MAT1A | c.668A>T (p.Lys223Met) c.545A>T (p.Lys182Met) | |
| 10 | g.80276476T>C | CA377362027 | MAT1A | c.668A>G (p.Lys223Arg) c.545A>G (p.Lys182Arg) | |
| 10 | g.80276476T>G | CA377362029 | MAT1A | c.668A>C (p.Lys223Thr) c.545A>C (p.Lys182Thr) | |
| 10 | g.80276477T>A | CA377362031 | MAT1A | c.667A>T (p.Lys223Ter) c.544A>T (p.Lys182Ter) | |
| 10 | g.80276477T>C | CA377362033 | MAT1A | c.667A>G (p.Lys223Glu) c.544A>G (p.Lys182Glu) | |
| 10 | g.80276477T>G | CA377362035 | MAT1A | c.667A>C (p.Lys223Gln) c.544A>C (p.Lys182Gln) | |
| 10 | g.80276478C>A | CA470467491 | MAT1A | c.666G>T (p.Leu222=) c.543G>T (p.Leu181=) | |
| 10 | g.80276478C= | CA1922574598 | MAT1A | c.666G= (p.Leu222=) c.543G= (p.Leu181=) | |
| 10 | g.80276478C>G | CA470467492 | MAT1A | c.666G>C (p.Leu222=) c.543G>C (p.Leu181=) | |
| 10 | g.80276478C>T | CA470467493 | MAT1A | c.666G>A (p.Leu222=) c.543G>A (p.Leu181=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276479A= | CA1922574604 | MAT1A | c.665T= (p.Leu222=) c.542T= (p.Leu181=) | |
| 10 | g.80276479A>C | CA377362038 | MAT1A | c.665T>G (p.Leu222Arg) c.542T>G (p.Leu181Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80276479A>G | CA377362040 | MAT1A | c.665T>C (p.Leu222Pro) c.542T>C (p.Leu181Pro) | COSMIC |
| 10 | g.80276479A>T | CA377362042 | MAT1A | c.665T>A (p.Leu222Gln) c.542T>A (p.Leu181Gln) | gnomAD v4 |
| 10 | g.80276480G>A | CA470467494 | MAT1A | c.664C>T (p.Leu222=) c.541C>T (p.Leu181=) | |
| 10 | g.80276480G>C | CA377362044 | MAT1A | c.664C>G (p.Leu222Val) c.541C>G (p.Leu181Val) | gnomAD v4 |
| 10 | g.80276480G>T | CA377362045 | MAT1A | c.664C>A (p.Leu222Met) c.541C>A (p.Leu181Met) | |
| 10 | g.80276481G>A | CA470467495 | MAT1A | c.663C>T (p.Ala221=) c.540C>T (p.Ala180=) | |
| 10 | g.80276481G>C | CA470467496 | MAT1A | c.663C>G (p.Ala221=) c.540C>G (p.Ala180=) | |
| 10 | g.80276481G>T | CA470467497 | MAT1A | c.663C>A (p.Ala221=) c.540C>A (p.Ala180=) | |
| 10 | g.80276482G>A | CA377362049 | MAT1A | c.662C>T (p.Ala221Val) c.539C>T (p.Ala180Val) | |
| 10 | g.80276482G>C | CA377362051 | MAT1A | c.662C>G (p.Ala221Gly) c.539C>G (p.Ala180Gly) | |
| 10 | g.80276482G>T | CA377362050 | MAT1A | c.662C>A (p.Ala221Asp) c.539C>A (p.Ala180Asp) | |
| 10 | g.80276483C>A | CA377362054 | MAT1A | c.661G>T (p.Ala221Ser) c.538G>T (p.Ala180Ser) | |
| 10 | g.80276483C>G | CA377362056 | MAT1A | c.661G>C (p.Ala221Pro) c.538G>C (p.Ala180Pro) | |
| 10 | g.80276483C>T | CA377362057 | MAT1A | c.661G>A (p.Ala221Thr) c.538G>A (p.Ala180Thr) | gnomAD v4 |
| 10 | g.80276484C>A | CA377362059 | MAT1A | c.660G>T (p.Arg220Ser) c.537G>T (p.Arg179Ser) | |
| 10 | g.80276484C= | CA1922574607 | MAT1A | c.660G= (p.Arg220=) c.537G= (p.Arg179=) | |
| 10 | g.80276484C>G | CA377362061 | MAT1A | c.660G>C (p.Arg220Ser) c.537G>C (p.Arg179Ser) | |
| 10 | g.80276484C>T | CA470467498 | MAT1A | c.660G>A (p.Arg220=) c.537G>A (p.Arg179=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80276485C>A | CA377362063 | MAT1A | c.659G>T (p.Arg220Met) c.536G>T (p.Arg179Met) | |
| 10 | g.80276485C= | CA1922574609 | MAT1A | c.659G= (p.Arg220=) c.536G= (p.Arg179=) | |
| 10 | g.80276485C>G | CA377362064 | MAT1A | c.659G>C (p.Arg220Thr) c.536G>C (p.Arg179Thr) | |
| 10 | g.80276485C>T | CA377362066 | MAT1A | c.659G>A (p.Arg220Lys) c.536G>A (p.Arg179Lys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.80276486T>A | CA377362068 | MAT1A | c.658A>T (p.Arg220Trp) c.535A>T (p.Arg179Trp) | |
| 10 | g.80276486T>C | CA377362070 | MAT1A | c.658A>G (p.Arg220Gly) c.535A>G (p.Arg179Gly) | |
| 10 | g.80276486T>G | CA470467499 | MAT1A | c.658A>C (p.Arg220=) c.535A>C (p.Arg179=) | |
| 10 | g.80276487G>A | CA470467500 | MAT1A | c.657C>T (p.Arg219=) c.534C>T (p.Arg178=) | gnomAD v4 |
| 10 | g.80276487G>C | CA470467502 | MAT1A | c.657C>G (p.Arg219=) c.534C>G (p.Arg178=) | |
| 10 | g.80276487G>T | CA470467501 | MAT1A | c.657C>A (p.Arg219=) c.534C>A (p.Arg178=) | |
| 10 | g.80276488C>A | CA5576738 | MAT1A | c.656G>T (p.Arg219Leu) c.533G>T (p.Arg178Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80276488C= | CA1922574617 | MAT1A | c.656G= (p.Arg219=) c.533G= (p.Arg178=) | |
| 10 | g.80276488C>G | CA210323805 | MAT1A | c.656G>C (p.Arg219Pro) c.533G>C (p.Arg178Pro) | dbSNP |
| 10 | g.80276488C>T | CA5576737 | MAT1A | c.656G>A (p.Arg219His) c.533G>A (p.Arg178His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80276489G>A | CA210323827 | MAT1A | c.655C>T (p.Arg219Cys) c.532C>T (p.Arg178Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80276489G>C | CA377362080 | MAT1A | c.655C>G (p.Arg219Gly) c.532C>G (p.Arg178Gly) | gnomAD v4 |
| 10 | g.80276489G= | CA1922574620 | MAT1A | c.655C= (p.Arg219=) c.532C= (p.Arg178=) | |
| 10 | g.80276489G>T | CA377362078 | MAT1A | c.655C>A (p.Arg219Ser) c.532C>A (p.Arg178Ser) | |
| 10 | g.80276490C>A | CA377362082 | MAT1A | c.654G>T (p.Met218Ile) c.531G>T (p.Met177Ile) | |
| 10 | g.80276490C= | CA1922574624 | MAT1A | c.654G= (p.Met218=) c.531G= (p.Met177=) | |
| 10 | g.80276490C>G | CA377362084 | MAT1A | c.654G>C (p.Met218Ile) c.531G>C (p.Met177Ile) | |
| 10 | g.80276490C>T | CA5576739 | MAT1A | c.654G>A (p.Met218Ile) c.531G>A (p.Met177Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |