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.80275085C>A | CA377360675 | MAT1A | c.883G>T (p.Ala295Ser) n.115G>T n.395G>T c.760G>T (p.Ala254Ser) | gnomAD v4 |
| 10 | g.80275085C= | CA1922573377 | MAT1A | c.883G= (p.Ala295=) n.115G= n.395G= c.760G= (p.Ala254=) | |
| 10 | g.80275085C>G | CA377360676 | MAT1A | c.883G>C (p.Ala295Pro) n.115G>C n.395G>C c.760G>C (p.Ala254Pro) | |
| 10 | g.80275085C>T | CA5576679 | MAT1A | c.883G>A (p.Ala295Thr) n.115G>A n.395G>A c.760G>A (p.Ala254Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80275086A= | CA1630848387 | MAT1A | c.882T= (p.Ala294=) n.114T= n.394T= c.759T= (p.Ala253=) | |
| 10 | g.80275086A>C | CA470467348 | MAT1A | c.882T>G (p.Ala294=) n.114T>G n.394T>G c.759T>G (p.Ala253=) | dbSNP |
| 10 | g.80275086A>G | CA5576680 | MAT1A | c.882T>C (p.Ala294=) n.114T>C n.394T>C c.759T>C (p.Ala253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275086A>T | CA470467349 | MAT1A | c.882T>A (p.Ala294=) n.114T>A n.394T>A c.759T>A (p.Ala253=) | dbSNP |
| 10 | g.80275087G>A | CA377360677 | MAT1A | c.881C>T (p.Ala294Val) n.113C>T n.393C>T c.758C>T (p.Ala253Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80275087G>C | CA377360678 | MAT1A | c.881C>G (p.Ala294Gly) n.113C>G n.393C>G c.758C>G (p.Ala253Gly) | |
| 10 | g.80275087G= | CA1922573384 | MAT1A | c.881C= (p.Ala294=) n.113C= n.393C= c.758C= (p.Ala253=) | |
| 10 | g.80275087G>T | CA377360679 | MAT1A | c.881C>A (p.Ala294Asp) n.113C>A n.393C>A c.758C>A (p.Ala253Asp) | |
| 10 | g.80275088C>A | CA5576681 | MAT1A | c.880G>T (p.Ala294Ser) n.112G>T n.392G>T c.757G>T (p.Ala253Ser) | dbSNP ExAC gnomAD v4 |
| 10 | g.80275088C= | CA1922573386 | MAT1A | c.880G= (p.Ala294=) n.112G= n.392G= c.757G= (p.Ala253=) | |
| 10 | g.80275088C>G | CA377360680 | MAT1A | c.880G>C (p.Ala294Pro) n.112G>C n.392G>C c.757G>C (p.Ala253Pro) | |
| 10 | g.80275088C>T | CA377360681 | MAT1A | c.880G>A (p.Ala294Thr) n.112G>A n.392G>A c.757G>A (p.Ala253Thr) | |
| 10 | g.80275089T>A | CA5576682 | MAT1A | c.879A>T (p.Ser293=) n.111A>T n.391A>T c.756A>T (p.Ser252=) | dbSNP ExAC |
| 10 | g.80275089T>C | CA470467350 | MAT1A | c.879A>G (p.Ser293=) n.111A>G n.391A>G c.756A>G (p.Ser252=) | gnomAD v4 |
| 10 | g.80275089T>G | CA470467351 | MAT1A | c.879A>C (p.Ser293=) n.111A>C n.391A>C c.756A>C (p.Ser252=) | |
| 10 | g.80275089T= | CA1922573388 | MAT1A | c.879A= (p.Ser293=) n.111A= n.391A= c.756A= (p.Ser252=) | |
| 10 | g.80275090G>A | CA377360682 | MAT1A | c.878C>T (p.Ser293Leu) n.110C>T n.390C>T c.755C>T (p.Ser252Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80275090G>C | CA377360683 | MAT1A | c.878C>G (p.Ser293Ter) n.110C>G n.390C>G c.755C>G (p.Ser252Ter) | |
| 10 | g.80275090G= | CA1922573391 | MAT1A | c.878C= (p.Ser293=) n.110C= n.390C= c.755C= (p.Ser252=) | |
| 10 | g.80275090G>T | CA377360684 | MAT1A | c.878C>A (p.Ser293Ter) n.110C>A n.390C>A c.755C>A (p.Ser252Ter) | |
| 10 | g.80275091A= | CA1922573394 | MAT1A | c.877T= (p.Ser293=) n.109T= n.389T= c.754T= (p.Ser252=) | |
| 10 | g.80275091A>C | CA377360685 | MAT1A | c.877T>G (p.Ser293Ala) n.109T>G n.389T>G c.754T>G (p.Ser252Ala) | |
| 10 | g.80275091A>G | CA377360686 | MAT1A | c.877T>C (p.Ser293Pro) n.109T>C n.389T>C c.754T>C (p.Ser252Pro) | |
| 10 | g.80275091A>T | CA377360687 | MAT1A | c.877T>A (p.Ser293Thr) n.109T>A n.389T>A c.754T>A (p.Ser252Thr) | dbSNP |
| 10 | g.80275092G>A | CA470467352 | MAT1A | c.876C>T (p.Arg292=) n.108C>T n.388C>T c.753C>T (p.Arg251=) | dbSNP |
| 10 | g.80275092G>C | CA470467353 | MAT1A | c.876C>G (p.Arg292=) n.108C>G n.388C>G c.753C>G (p.Arg251=) | |
| 10 | g.80275092G= | CA1922573396 | MAT1A | c.876C= (p.Arg292=) n.108C= n.388C= c.753C= (p.Arg251=) | |
| 10 | g.80275092G>T | CA470467354 | MAT1A | c.876C>A (p.Arg292=) n.108C>A n.388C>A c.753C>A (p.Arg251=) | |
| 10 | g.80275093C>A | CA377360688 | MAT1A | c.875G>T (p.Arg292Leu) n.107G>T n.387G>T c.752G>T (p.Arg251Leu) | gnomAD v2 |
| 10 | g.80275093C= | CA1922573400 | MAT1A | c.875G= (p.Arg292=) n.107G= n.387G= c.752G= (p.Arg251=) | |
| 10 | g.80275093C>G | CA5576684 | MAT1A | c.875G>C (p.Arg292Pro) n.107G>C n.387G>C c.752G>C (p.Arg251Pro) | dbSNP ExAC gnomAD v4 |
| 10 | g.80275093C>T | CA5576683 | MAT1A | c.875G>A (p.Arg292His) n.107G>A n.387G>A c.752G>A (p.Arg251His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275093_80275106delinsCGGTCTACCTTGGT | CA1922573403 | MAT1A | c.862_875delinsACCAAGGTAGACCG (p.Thr288=) n.94_107delinsACCAAGGTAGACCG n.374_387delinsACCAAGGTAGACCG c.739_752delinsACCAAGGTAGACCG (p.Thr247=) | |
| 10 | g.80275094G>A | CA5576685 | MAT1A | c.874C>T (p.Arg292Cys) n.106C>T n.386C>T c.751C>T (p.Arg251Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80275094G>C | CA377360689 | MAT1A | c.874C>G (p.Arg292Gly) n.106C>G n.386C>G c.751C>G (p.Arg251Gly) | |
| 10 | g.80275094G= | CA1922573405 | MAT1A | c.874C= (p.Arg292=) n.106C= n.386C= c.751C= (p.Arg251=) | |
| 10 | g.80275094G>T | CA377360690 | MAT1A | c.874C>A (p.Arg292Ser) n.106C>A n.386C>A c.751C>A (p.Arg251Ser) | gnomAD v4 |
| 10 | g.80275095_80275107del | CA594711864 | MAT1A | c.862_874del (p.Thr288AlafsTer15) n.94_106del n.374_386del c.739_751del (p.Thr247AlafsTer15) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80275095G>A | CA470467355 | MAT1A | c.873C>T (p.Asp291=) n.105C>T n.385C>T c.750C>T (p.Asp250=) | gnomAD v4 |
| 10 | g.80275095G>C | CA377360691 | MAT1A | c.873C>G (p.Asp291Glu) n.105C>G n.385C>G c.750C>G (p.Asp250Glu) | |
| 10 | g.80275095G>T | CA377360692 | MAT1A | c.873C>A (p.Asp291Glu) n.105C>A n.385C>A c.750C>A (p.Asp250Glu) | |
| 10 | g.80275096T>A | CA377360693 | MAT1A | c.872A>T (p.Asp291Val) n.104A>T n.384A>T c.749A>T (p.Asp250Val) | |
| 10 | g.80275096T>C | CA377360694 | MAT1A | c.872A>G (p.Asp291Gly) n.104A>G n.384A>G c.749A>G (p.Asp250Gly) | |
| 10 | g.80275096T>G | CA377360695 | MAT1A | c.872A>C (p.Asp291Ala) n.104A>C n.384A>C c.749A>C (p.Asp250Ala) | |
| 10 | g.80275097C>A | CA377360696 | MAT1A | c.871G>T (p.Asp291Tyr) n.103G>T n.383G>T c.748G>T (p.Asp250Tyr) | |
| 10 | g.80275097C>G | CA377360697 | MAT1A | c.871G>C (p.Asp291His) n.103G>C n.383G>C c.748G>C (p.Asp250His) | |
| 10 | g.80275097C>T | CA377360698 | MAT1A | c.871G>A (p.Asp291Asn) n.103G>A n.383G>A c.748G>A (p.Asp250Asn) | |
| 10 | g.80275098T>A | CA470467356 | MAT1A | c.870A>T (p.Val290=) n.102A>T n.382A>T c.747A>T (p.Val249=) | dbSNP gnomAD v4 |
| 10 | g.80275098T>C | CA5576686 | MAT1A | c.870A>G (p.Val290=) n.102A>G n.382A>G c.747A>G (p.Val249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275098T>G | CA470467357 | MAT1A | c.870A>C (p.Val290=) n.102A>C n.382A>C c.747A>C (p.Val249=) | dbSNP |
| 10 | g.80275098T= | CA1630848388 | MAT1A | c.870A= (p.Val290=) n.102A= n.382A= c.747A= (p.Val249=) | |
| 10 | g.80275098_80275099insCC | CA2609913665 | MAT1A | c.869_870insGG (p.Asp291GlufsTer17) n.101_102insGG n.381_382insGG c.746_747insGG (p.Asp250GlufsTer17) | gnomAD v4 |
| 10 | g.80275099A>C | CA377360700 | MAT1A | c.869T>G (p.Val290Gly) n.101T>G n.381T>G c.746T>G (p.Val249Gly) | dbSNP |
| 10 | g.80275099A>G | CA377360699 | MAT1A | c.869T>C (p.Val290Ala) n.101T>C n.381T>C c.746T>C (p.Val249Ala) | |
| 10 | g.80275099A>T | CA377360701 | MAT1A | c.869T>A (p.Val290Glu) n.101T>A n.381T>A c.746T>A (p.Val249Glu) | |
| 10 | g.80275100C>A | CA377360702 | MAT1A | c.868G>T (p.Val290Leu) n.100G>T n.380G>T c.745G>T (p.Val249Leu) | |
| 10 | g.80275100C= | CA1922573412 | MAT1A | c.868G= (p.Val290=) n.100G= n.380G= c.745G= (p.Val249=) | |
| 10 | g.80275100C>G | CA377360703 | MAT1A | c.868G>C (p.Val290Leu) n.100G>C n.380G>C c.745G>C (p.Val249Leu) | |
| 10 | g.80275100C>T | CA5576687 | MAT1A | c.868G>A (p.Val290Ile) n.100G>A n.380G>A c.745G>A (p.Val249Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275101C>A | CA377360704 | MAT1A | c.867G>T (p.Lys289Asn) n.99G>T n.379G>T c.744G>T (p.Lys248Asn) | |
| 10 | g.80275101C= | CA1922573415 | MAT1A | c.867G= (p.Lys289=) n.99G= n.379G= c.744G= (p.Lys248=) | |
| 10 | g.80275101C>G | CA377360705 | MAT1A | c.867G>C (p.Lys289Asn) n.99G>C n.379G>C c.744G>C (p.Lys248Asn) | |
| 10 | g.80275101C>T | CA5576688 | MAT1A | c.867G>A (p.Lys289=) n.99G>A n.379G>A c.744G>A (p.Lys248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275102T>A | CA377360706 | MAT1A | c.866A>T (p.Lys289Met) n.98A>T n.378A>T c.743A>T (p.Lys248Met) | |
| 10 | g.80275102T>C | CA377360707 | MAT1A | c.866A>G (p.Lys289Arg) n.98A>G n.378A>G c.743A>G (p.Lys248Arg) | ClinVar |
| 10 | g.80275102T>G | CA377360708 | MAT1A | c.866A>C (p.Lys289Thr) n.98A>C n.378A>C c.743A>C (p.Lys248Thr) | |
| 10 | g.80275103T>A | CA377360709 | MAT1A | c.865A>T (p.Lys289Ter) n.97A>T n.377A>T c.742A>T (p.Lys248Ter) | |
| 10 | g.80275103T>C | CA377360710 | MAT1A | c.865A>G (p.Lys289Glu) n.97A>G n.377A>G c.742A>G (p.Lys248Glu) | |
| 10 | g.80275103T>G | CA377360711 | MAT1A | c.865A>C (p.Lys289Gln) n.97A>C n.377A>C c.742A>C (p.Lys248Gln) | |
| 10 | g.80275103_80275104insCGAA | CA2788703080 | MAT1A | c.864_865insTTCG (p.Lys289PhefsTer?) n.96_97insTTCG n.376_377insTTCG c.741_742insTTCG (p.Lys248PhefsTer?) | |
| 10 | g.80275103_80275104insCGAC | CA2741110957 | MAT1A | c.864_865insGTCG (p.Lys289ValfsTer?) n.96_97insGTCG n.376_377insGTCG c.741_742insGTCG (p.Lys248ValfsTer?) | |
| 10 | g.80275104G>A | CA470467360 | MAT1A | c.864C>T (p.Thr288=) n.96C>T n.376C>T c.741C>T (p.Thr247=) | |
| 10 | g.80275104G>C | CA470467359 | MAT1A | c.864C>G (p.Thr288=) n.96C>G n.376C>G c.741C>G (p.Thr247=) | |
| 10 | g.80275104G>T | CA470467358 | MAT1A | c.864C>A (p.Thr288=) n.96C>A n.376C>A c.741C>A (p.Thr247=) | gnomAD v4 |
| 10 | g.80275105G>A | CA377360712 | MAT1A | c.863C>T (p.Thr288Ile) n.95C>T n.375C>T c.740C>T (p.Thr247Ile) | |
| 10 | g.80275105G>C | CA210322471 | MAT1A | c.863C>G (p.Thr288Ser) n.95C>G n.375C>G c.740C>G (p.Thr247Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275105G= | CA1922573420 | MAT1A | c.863C= (p.Thr288=) n.95C= n.375C= c.740C= (p.Thr247=) | |
| 10 | g.80275105G>T | CA377360713 | MAT1A | c.863C>A (p.Thr288Asn) n.95C>A n.375C>A c.740C>A (p.Thr247Asn) | |
| 10 | g.80275106T>A | CA377360714 | MAT1A | c.862A>T (p.Thr288Ser) n.94A>T n.374A>T c.739A>T (p.Thr247Ser) | |
| 10 | g.80275106T>C | CA5576689 | MAT1A | c.862A>G (p.Thr288Ala) n.94A>G n.374A>G c.739A>G (p.Thr247Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80275106T>G | CA377360715 | MAT1A | c.862A>C (p.Thr288Pro) n.94A>C n.374A>C c.739A>C (p.Thr247Pro) | |
| 10 | g.80275106T= | CA1922573424 | MAT1A | c.862A= (p.Thr288=) n.94A= n.374A= c.739A= (p.Thr247=) | |
| 10 | g.80275106_80275108del | CA470467361 | MAT1A | c.860_862del (p.Tyr287_Thr288delinsSer) n.92_94del n.372_374del c.737_739del (p.Tyr246_Thr247delinsSer) | |
| 10 | g.80275107G>A | CA470467362 | MAT1A | c.861C>T (p.Tyr287=) n.93C>T n.373C>T c.738C>T (p.Tyr246=) | dbSNP |
| 10 | g.80275107G>C | CA377360716 | MAT1A | c.861C>G (p.Tyr287Ter) n.93C>G n.373C>G c.738C>G (p.Tyr246Ter) | gnomAD v4 |
| 10 | g.80275107G= | CA1922573426 | MAT1A | c.861C= (p.Tyr287=) n.93C= n.373C= c.738C= (p.Tyr246=) | |
| 10 | g.80275107G>T | CA377360717 | MAT1A | c.861C>A (p.Tyr287Ter) n.93C>A n.373C>A c.738C>A (p.Tyr246Ter) | |
| 10 | g.80275108T>A | CA377360718 | MAT1A | c.860A>T (p.Tyr287Phe) n.92A>T n.372A>T c.737A>T (p.Tyr246Phe) | |
| 10 | g.80275108T>C | CA377360719 | MAT1A | c.860A>G (p.Tyr287Cys) n.92A>G n.372A>G c.737A>G (p.Tyr246Cys) | dbSNP |
| 10 | g.80275108T>G | CA377360720 | MAT1A | c.860A>C (p.Tyr287Ser) n.92A>C n.372A>C c.737A>C (p.Tyr246Ser) | |
| 10 | g.80275108T= | CA1922573427 | MAT1A | c.860A= (p.Tyr287=) n.92A= n.372A= c.737A= (p.Tyr246=) | |
| 10 | g.80275109A>C | CA377360721 | MAT1A | c.859T>G (p.Tyr287Asp) n.91T>G n.371T>G c.736T>G (p.Tyr246Asp) | |
| 10 | g.80275109A>G | CA377360722 | MAT1A | c.859T>C (p.Tyr287His) n.91T>C n.371T>C c.736T>C (p.Tyr246His) | |
| 10 | g.80275109A>T | CA377360723 | MAT1A | c.859T>A (p.Tyr287Asn) n.91T>A n.371T>A c.736T>A (p.Tyr246Asn) | gnomAD v4 |
| 10 | g.80275110del | CA2788703081 | MAT1A | c.858del (p.Tyr287ThrfsTer4) n.90del n.370del c.735del (p.Tyr246ThrfsTer4) | |
| 10 | g.80275110G>A | CA210322477 | MAT1A | c.858C>T (p.Asp286=) n.90C>T n.370C>T c.735C>T (p.Asp245=) | dbSNP |
| 10 | g.80275110G>C | CA377360724 | MAT1A | c.858C>G (p.Asp286Glu) n.90C>G n.370C>G c.735C>G (p.Asp245Glu) | |
| 10 | g.80275110G= | CA1922573429 | MAT1A | c.858C= (p.Asp286=) n.90C= n.370C= c.735C= (p.Asp245=) | |
| 10 | g.80275110G>T | CA377360725 | MAT1A | c.858C>A (p.Asp286Glu) n.90C>A n.370C>A c.735C>A (p.Asp245Glu) | |
| 10 | g.80275110_80275111insGGA | CA470467363 | MAT1A | c.857_858insTCC (p.Asp286_Tyr287insPro) n.89_90insTCC n.369_370insTCC c.734_735insTCC (p.Asp245_Tyr246insPro) | |
| 10 | g.80275111T>A | CA377360727 | MAT1A | c.857A>T (p.Asp286Val) n.89A>T n.369A>T c.734A>T (p.Asp245Val) | |
| 10 | g.80275111T>C | CA377360728 | MAT1A | c.857A>G (p.Asp286Gly) n.89A>G n.369A>G c.734A>G (p.Asp245Gly) | |
| 10 | g.80275111T>G | CA377360726 | MAT1A | c.857A>C (p.Asp286Ala) n.89A>C n.369A>C c.734A>C (p.Asp245Ala) | |
| 10 | g.80275112C>A | CA377360729 | MAT1A | c.856G>T (p.Asp286Tyr) n.88G>T n.368G>T c.733G>T (p.Asp245Tyr) | |
| 10 | g.80275112C= | CA1922573432 | MAT1A | c.856G= (p.Asp286=) n.88G= n.368G= c.733G= (p.Asp245=) | |
| 10 | g.80275112C>G | CA377360730 | MAT1A | c.856G>C (p.Asp286His) n.88G>C n.368G>C c.733G>C (p.Asp245His) | |
| 10 | g.80275112C>T | CA5576690 | MAT1A | c.856G>A (p.Asp286Asn) n.88G>A n.368G>A c.733G>A (p.Asp245Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80275113C>A | CA377360731 | MAT1A | c.855G>T (p.Lys285Asn) n.87G>T n.367G>T c.732G>T (p.Lys244Asn) | gnomAD v4 |
| 10 | g.80275113C= | CA1922573435 | MAT1A | c.855G= (p.Lys285=) n.87G= n.367G= c.732G= (p.Lys244=) | |
| 10 | g.80275113C>G | CA377360732 | MAT1A | c.855G>C (p.Lys285Asn) n.87G>C n.367G>C c.732G>C (p.Lys244Asn) | |
| 10 | g.80275113C>T | CA210322480 | MAT1A | c.855G>A (p.Lys285=) n.87G>A n.367G>A c.732G>A (p.Lys244=) | dbSNP |
| 10 | g.80275114T>A | CA377360735 | MAT1A | c.854A>T (p.Lys285Met) n.86A>T n.366A>T c.731A>T (p.Lys244Met) | |
| 10 | g.80275114T>C | CA377360734 | MAT1A | c.854A>G (p.Lys285Arg) n.86A>G n.366A>G c.731A>G (p.Lys244Arg) | |
| 10 | g.80275114T>G | CA377360733 | MAT1A | c.854A>C (p.Lys285Thr) n.86A>C n.366A>C c.731A>C (p.Lys244Thr) | |
| 10 | g.80275115del | CA2609913672 | MAT1A | c.854del (p.Lys285ArgfsTer6) n.86del n.366del c.731del (p.Lys244ArgfsTer6) | gnomAD v4 |
| 10 | g.80275115T>A | CA377360736 | MAT1A | c.853A>T (p.Lys285Ter) n.85A>T n.365A>T c.730A>T (p.Lys244Ter) | |
| 10 | g.80275115T>C | CA377360737 | MAT1A | c.853A>G (p.Lys285Glu) n.85A>G n.365A>G c.730A>G (p.Lys244Glu) | |
| 10 | g.80275115T>G | CA377360738 | MAT1A | c.853A>C (p.Lys285Gln) n.85A>C n.365A>C c.730A>C (p.Lys244Gln) | |
| 10 | g.80275116C>A | CA470467364 | MAT1A | c.852G>T (p.Gly284=) n.84G>T n.364G>T c.729G>T (p.Gly243=) | dbSNP gnomAD v4 |
| 10 | g.80275116C= | CA1922573438 | MAT1A | c.852G= (p.Gly284=) n.84G= n.364G= c.729G= (p.Gly243=) | |
| 10 | g.80275116C>G | CA470467365 | MAT1A | c.852G>C (p.Gly284=) n.84G>C n.364G>C c.729G>C (p.Gly243=) | dbSNP |
| 10 | g.80275116C>T | CA210322482 | MAT1A | c.852G>A (p.Gly284=) n.84G>A n.364G>A c.729G>A (p.Gly243=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80275117C>A | CA377360739 | MAT1A | c.851G>T (p.Gly284Val) n.83G>T n.363G>T c.728G>T (p.Gly243Val) | |
| 10 | g.80275117C= | CA1922573442 | MAT1A | c.851G= (p.Gly284=) n.83G= n.363G= c.728G= (p.Gly243=) | |
| 10 | g.80275117C>G | CA377360740 | MAT1A | c.851G>C (p.Gly284Ala) n.83G>C n.363G>C c.728G>C (p.Gly243Ala) | |
| 10 | g.80275117C>T | CA377360741 | MAT1A | c.851G>A (p.Gly284Glu) n.83G>A n.363G>A c.728G>A (p.Gly243Glu) | dbSNP |
| 10 | g.80275118C>A | CA377360742 | MAT1A | c.850G>T (p.Gly284Trp) n.82G>T n.362G>T c.727G>T (p.Gly243Trp) | |
| 10 | g.80275118C>G | CA377360744 | MAT1A | c.850G>C (p.Gly284Arg) n.82G>C n.362G>C c.727G>C (p.Gly243Arg) | |
| 10 | g.80275118C>T | CA377360743 | MAT1A | c.850G>A (p.Gly284Arg) n.82G>A n.362G>A c.727G>A (p.Gly243Arg) | |
| 10 | g.80275119A= | CA1922573446 | MAT1A | c.849T= (p.Ser283=) n.81T= n.361T= c.726T= (p.Ser242=) | |
| 10 | g.80275119A>C | CA470467367 | MAT1A | c.849T>G (p.Ser283=) n.81T>G n.361T>G c.726T>G (p.Ser242=) | |
| 10 | g.80275119A>G | CA210322484 | MAT1A | c.849T>C (p.Ser283=) n.81T>C n.361T>C c.726T>C (p.Ser242=) | dbSNP gnomAD v4 |
| 10 | g.80275119A>T | CA470467366 | MAT1A | c.849T>A (p.Ser283=) n.81T>A n.361T>A c.726T>A (p.Ser242=) | |
| 10 | g.80275120G>A | CA377360745 | MAT1A | c.848C>T (p.Ser283Phe) n.80C>T n.360C>T c.725C>T (p.Ser242Phe) | |
| 10 | g.80275120G>C | CA377360746 | MAT1A | c.848C>G (p.Ser283Cys) n.80C>G n.360C>G c.725C>G (p.Ser242Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275120G= | CA1922573447 | MAT1A | c.848C= (p.Ser283=) n.80C= n.360C= c.725C= (p.Ser242=) | |
| 10 | g.80275120G>T | CA377360747 | MAT1A | c.848C>A (p.Ser283Tyr) n.80C>A n.360C>A c.725C>A (p.Ser242Tyr) | |
| 10 | g.80275121A>C | CA377360748 | MAT1A | c.847T>G (p.Ser283Ala) n.79T>G n.359T>G c.724T>G (p.Ser242Ala) | |
| 10 | g.80275121A>G | CA377360749 | MAT1A | c.847T>C (p.Ser283Pro) n.79T>C n.359T>C c.724T>C (p.Ser242Pro) | |
| 10 | g.80275121A>T | CA377360750 | MAT1A | c.847T>A (p.Ser283Thr) n.79T>A n.359T>A c.724T>A (p.Ser242Thr) | |
| 10 | g.80275122G>A | CA470467368 | MAT1A | c.846C>T (p.Phe282=) n.78C>T n.358C>T c.723C>T (p.Phe241=) | |
| 10 | g.80275122G>C | CA377360751 | MAT1A | c.846C>G (p.Phe282Leu) n.78C>G n.358C>G c.723C>G (p.Phe241Leu) | |
| 10 | g.80275122G>T | CA377360752 | MAT1A | c.846C>A (p.Phe282Leu) n.78C>A n.358C>A c.723C>A (p.Phe241Leu) | gnomAD v4 |
| 10 | g.80275123A>C | CA377360753 | MAT1A | c.845T>G (p.Phe282Cys) n.77T>G n.357T>G c.722T>G (p.Phe241Cys) | |
| 10 | g.80275123A>G | CA377360754 | MAT1A | c.845T>C (p.Phe282Ser) n.77T>C n.357T>C c.722T>C (p.Phe241Ser) | COSMIC |
| 10 | g.80275123A>T | CA377360755 | MAT1A | c.845T>A (p.Phe282Tyr) n.77T>A n.357T>A c.722T>A (p.Phe241Tyr) | |
| 10 | g.80275124A>C | CA377360758 | MAT1A | c.844T>G (p.Phe282Val) n.76T>G n.356T>G c.721T>G (p.Phe241Val) | |
| 10 | g.80275124A>G | CA377360757 | MAT1A | c.844T>C (p.Phe282Leu) n.76T>C n.356T>C c.721T>C (p.Phe241Leu) | |
| 10 | g.80275124A>T | CA377360756 | MAT1A | c.844T>A (p.Phe282Ile) n.76T>A n.356T>A c.721T>A (p.Phe241Ile) | |
| 10 | g.80275125G>A | CA470467369 | MAT1A | c.843C>T (p.Ala281=) n.75C>T n.355C>T c.720C>T (p.Ala240=) | dbSNP |
| 10 | g.80275125G>C | CA470467371 | MAT1A | c.843C>G (p.Ala281=) n.75C>G n.355C>G c.720C>G (p.Ala240=) | |
| 10 | g.80275125G= | CA1922573449 | MAT1A | c.843C= (p.Ala281=) n.75C= n.355C= c.720C= (p.Ala240=) | |
| 10 | g.80275125G>T | CA470467370 | MAT1A | c.843C>A (p.Ala281=) n.75C>A n.355C>A c.720C>A (p.Ala240=) | |
| 10 | g.80275126G>A | CA377360759 | MAT1A | c.842C>T (p.Ala281Val) n.74C>T n.354C>T c.719C>T (p.Ala240Val) | gnomAD v4 |
| 10 | g.80275126G>C | CA377360761 | MAT1A | c.842C>G (p.Ala281Gly) n.74C>G n.354C>G c.719C>G (p.Ala240Gly) | |
| 10 | g.80275126G>T | CA377360760 | MAT1A | c.842C>A (p.Ala281Asp) n.74C>A n.354C>A c.719C>A (p.Ala240Asp) | |
| 10 | g.80275126_80275127delinsGC | CA1922573453 | MAT1A | c.841_842delinsGC (p.Ala281=) n.73_74delinsGC n.353_354delinsGC c.718_719delinsGC (p.Ala240=) | |
| 10 | g.80275127C>A | CA377360762 | MAT1A | c.841G>T (p.Ala281Ser) n.73G>T n.353G>T c.718G>T (p.Ala240Ser) | |
| 10 | g.80275127C>G | CA377360763 | MAT1A | c.841G>C (p.Ala281Pro) n.73G>C n.353G>C c.718G>C (p.Ala240Pro) | |
| 10 | g.80275127C>T | CA377360764 | MAT1A | c.841G>A (p.Ala281Thr) n.73G>A n.353G>A c.718G>A (p.Ala240Thr) | ClinVar |
| 10 | g.80275130del | CA668885651 | MAT1A | c.841del (p.Ala281ProfsTer10) n.73del n.353del c.718del (p.Ala240ProfsTer10) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275128C>A | CA470467372 | MAT1A | c.840G>T (p.Gly280=) n.72G>T n.352G>T c.717G>T (p.Gly239=) | dbSNP gnomAD v4 |
| 10 | g.80275128C= | CA1922573461 | MAT1A | c.840G= (p.Gly280=) n.72G= n.352G= c.717G= (p.Gly239=) | |
| 10 | g.80275128C>G | CA210322486 | MAT1A | c.840G>C (p.Gly280=) n.72G>C n.352G>C c.717G>C (p.Gly239=) | dbSNP |
| 10 | g.80275128C>T | CA470467373 | MAT1A | c.840G>A (p.Gly280=) n.72G>A n.352G>A c.717G>A (p.Gly239=) | dbSNP |
| 10 | g.80275129C>A | CA377360765 | MAT1A | c.839G>T (p.Gly280Val) n.71G>T n.351G>T c.716G>T (p.Gly239Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80275129C= | CA1922573463 | MAT1A | c.839G= (p.Gly280=) n.71G= n.351G= c.716G= (p.Gly239=) | |
| 10 | g.80275129C>G | CA377360766 | MAT1A | c.839G>C (p.Gly280Ala) n.71G>C n.351G>C c.716G>C (p.Gly239Ala) | ClinVar dbSNP |
| 10 | g.80275129C>T | CA377360767 | MAT1A | c.839G>A (p.Gly280Glu) n.71G>A n.351G>A c.716G>A (p.Gly239Glu) | gnomAD v4 |
| 10 | g.80275130C>A | CA377360768 | MAT1A | c.838G>T (p.Gly280Trp) n.70G>T n.350G>T c.715G>T (p.Gly239Trp) | |
| 10 | g.80275130C>G | CA377360769 | MAT1A | c.838G>C (p.Gly280Arg) n.70G>C n.350G>C c.715G>C (p.Gly239Arg) | |
| 10 | g.80275130C>T | CA377360770 | MAT1A | c.838G>A (p.Gly280Arg) n.70G>A n.350G>A c.715G>A (p.Gly239Arg) | |
| 10 | g.80275131A= | CA1922573465 | MAT1A | c.837T= (p.Gly279=) n.69T= n.349T= c.714T= (p.Gly238=) | |
| 10 | g.80275131A>C | CA470467374 | MAT1A | c.837T>G (p.Gly279=) n.69T>G n.349T>G c.714T>G (p.Gly238=) | dbSNP |
| 10 | g.80275131A>G | CA470467375 | MAT1A | c.837T>C (p.Gly279=) n.69T>C n.349T>C c.714T>C (p.Gly238=) | dbSNP gnomAD v4 COSMIC |
| 10 | g.80275131A>T | CA470467376 | MAT1A | c.837T>A (p.Gly279=) n.69T>A n.349T>A c.714T>A (p.Gly238=) | |
| 10 | g.80275132C>A | CA377360771 | MAT1A | c.836G>T (p.Gly279Val) n.68G>T n.348G>T c.713G>T (p.Gly238Val) | |
| 10 | g.80275132C>G | CA377360772 | MAT1A | c.836G>C (p.Gly279Ala) n.68G>C n.348G>C c.713G>C (p.Gly238Ala) | |
| 10 | g.80275132C>T | CA377360773 | MAT1A | c.836G>A (p.Gly279Asp) n.68G>A n.348G>A c.713G>A (p.Gly238Asp) | |
| 10 | g.80275133del | CA2609913674 | MAT1A | c.836del (p.Gly279ValfsTer12) n.68del n.348del c.713del (p.Gly238ValfsTer12) | gnomAD v4 |
| 10 | g.80275133C>A | CA377360776 | MAT1A | c.835G>T (p.Gly279Cys) n.67G>T n.347G>T c.712G>T (p.Gly238Cys) | gnomAD v4 |
| 10 | g.80275133C>G | CA377360774 | MAT1A | c.835G>C (p.Gly279Arg) n.67G>C n.347G>C c.712G>C (p.Gly238Arg) | |
| 10 | g.80275133C>T | CA377360775 | MAT1A | c.835G>A (p.Gly279Ser) n.67G>A n.347G>A c.712G>A (p.Gly238Ser) | |
| 10 | g.80275134A>C | CA470467377 | MAT1A | c.834T>G (p.Gly278=) n.66T>G n.346T>G c.711T>G (p.Gly237=) | |
| 10 | g.80275134A>G | CA470467378 | MAT1A | c.834T>C (p.Gly278=) n.66T>C n.346T>C c.711T>C (p.Gly237=) | |
| 10 | g.80275134A>T | CA470467379 | MAT1A | c.834T>A (p.Gly278=) n.66T>A n.346T>A c.711T>A (p.Gly237=) | |
| 10 | g.80275135C>A | CA377360777 | MAT1A | c.833G>T (p.Gly278Val) n.65G>T n.345G>T c.710G>T (p.Gly237Val) | |
| 10 | g.80275135C= | CA1922573468 | MAT1A | c.833G= (p.Gly278=) n.65G= n.345G= c.710G= (p.Gly237=) | |
| 10 | g.80275135C>G | CA377360778 | MAT1A | c.833G>C (p.Gly278Ala) n.65G>C n.345G>C c.710G>C (p.Gly237Ala) | |
| 10 | g.80275135C>T | CA377360779 | MAT1A | c.833G>A (p.Gly278Asp) n.65G>A n.345G>A c.710G>A (p.Gly237Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275136C>A | CA377360780 | MAT1A | c.832G>T (p.Gly278Cys) n.64G>T n.344G>T c.709G>T (p.Gly237Cys) | |
| 10 | g.80275136C>G | CA377360781 | MAT1A | c.832G>C (p.Gly278Arg) n.64G>C n.344G>C c.709G>C (p.Gly237Arg) | |
| 10 | g.80275136C>T | CA377360782 | MAT1A | c.832G>A (p.Gly278Ser) n.64G>A n.344G>A c.709G>A (p.Gly237Ser) | |
| 10 | g.80275136_80275137insGTG | CA2741110958 | MAT1A | c.831_832insCAC (p.His277_Gly278insHis) n.63_64insCAC n.343_344insCAC c.708_709insCAC (p.His236_Gly237insHis) | |
| 10 | g.80275137A>C | CA377360783 | MAT1A | c.831T>G (p.His277Gln) n.63T>G n.343T>G c.708T>G (p.His236Gln) | |
| 10 | g.80275137A>G | CA470467380 | MAT1A | c.831T>C (p.His277=) n.63T>C n.343T>C c.708T>C (p.His236=) | gnomAD v4 |
| 10 | g.80275137A>T | CA377360784 | MAT1A | c.831T>A (p.His277Gln) n.63T>A n.343T>A c.708T>A (p.His236Gln) | |
| 10 | g.80275138T>A | CA377360785 | MAT1A | c.830A>T (p.His277Leu) n.62A>T n.342A>T c.707A>T (p.His236Leu) | |
| 10 | g.80275138T>C | CA377360786 | MAT1A | c.830A>G (p.His277Arg) n.62A>G n.342A>G c.707A>G (p.His236Arg) | COSMIC |
| 10 | g.80275138T>G | CA377360787 | MAT1A | c.830A>C (p.His277Pro) n.62A>C n.342A>C c.707A>C (p.His236Pro) | |
| 10 | g.80275139G>A | CA5576691 | MAT1A | c.829C>T (p.His277Tyr) n.61C>T n.341C>T c.706C>T (p.His236Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80275139G>C | CA377360789 | MAT1A | c.829C>G (p.His277Asp) n.61C>G n.341C>G c.706C>G (p.His236Asp) | |
| 10 | g.80275139G= | CA1922573471 | MAT1A | c.829C= (p.His277=) n.61C= n.341C= c.706C= (p.His236=) | |
| 10 | g.80275139G>T | CA377360788 | MAT1A | c.829C>A (p.His277Asn) n.61C>A n.341C>A c.706C>A (p.His236Asn) | |
| 10 | g.80275140del | CA2741110959 | MAT1A | c.828del (p.His277MetfsTer14) n.60del n.340del c.705del (p.His236MetfsTer14) | |
| 10 | g.80275140A= | CA1922573473 | MAT1A | c.828T= (p.Ala276=) n.60T= n.340T= c.705T= (p.Ala235=) | |
| 10 | g.80275140A>C | CA470467381 | MAT1A | c.828T>G (p.Ala276=) n.60T>G n.340T>G c.705T>G (p.Ala235=) | |
| 10 | g.80275140A>G | CA470467382 | MAT1A | c.828T>C (p.Ala276=) n.60T>C n.340T>C c.705T>C (p.Ala235=) | dbSNP |
| 10 | g.80275140A>T | CA470467383 | MAT1A | c.828T>A (p.Ala276=) n.60T>A n.340T>A c.705T>A (p.Ala235=) | |
| 10 | g.80275141G>A | CA377360790 | MAT1A | c.827C>T (p.Ala276Val) n.59C>T n.339C>T c.704C>T (p.Ala235Val) | gnomAD v4 |
| 10 | g.80275141G>C | CA377360791 | MAT1A | c.827C>G (p.Ala276Gly) n.59C>G n.339C>G c.704C>G (p.Ala235Gly) | |
| 10 | g.80275141G>T | CA377360792 | MAT1A | c.827C>A (p.Ala276Asp) n.59C>A n.339C>A c.704C>A (p.Ala235Asp) | |
| 10 | g.80275141_80275142delinsGC | CA1922573478 | MAT1A | c.826_827delinsGC (p.Ala276=) n.58_59delinsGC n.338_339delinsGC c.703_704delinsGC (p.Ala235=) | |
| 10 | g.80275141_80275143del | CA2507791667 | MAT1A | c.825_827del (p.Ala276del) n.57_59del n.337_339del c.702_704del (p.Ala235del) | |
| 10 | g.80275142C>A | CA377360793 | MAT1A | c.826G>T (p.Ala276Ser) n.58G>T n.338G>T c.703G>T (p.Ala235Ser) | |
| 10 | g.80275142C= | CA1922573484 | MAT1A | c.826G= (p.Ala276=) n.58G= n.338G= c.703G= (p.Ala235=) | |
| 10 | g.80275142C>G | CA377360794 | MAT1A | c.826G>C (p.Ala276Pro) n.58G>C n.338G>C c.703G>C (p.Ala235Pro) | |
| 10 | g.80275142C>T | CA377360795 | MAT1A | c.826G>A (p.Ala276Thr) n.58G>A n.338G>A c.703G>A (p.Ala235Thr) | dbSNP gnomAD v4 |
| 10 | g.80275147dup | CA5576692 | MAT1A | c.826dup (p.Ala276GlyfsTer?) n.58dup n.338dup c.703dup (p.Ala235GlyfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80275147del | CA668885685 | MAT1A | c.826del (p.Ala276LeufsTer15) n.58del n.338del c.703del (p.Ala235LeufsTer15) | dbSNP gnomAD v4 |
| 10 | g.80275143C>A | CA470467384 | MAT1A | c.825G>T (p.Gly275=) n.57G>T n.337G>T c.702G>T (p.Gly234=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275143C= | CA1922573488 | MAT1A | c.825G= (p.Gly275=) n.57G= n.337G= c.702G= (p.Gly234=) | |
| 10 | g.80275143C>G | CA470467385 | MAT1A | c.825G>C (p.Gly275=) n.57G>C n.337G>C c.702G>C (p.Gly234=) | |
| 10 | g.80275143C>T | CA470467386 | MAT1A | c.825G>A (p.Gly275=) n.57G>A n.337G>A c.702G>A (p.Gly234=) | |
| 10 | g.80275144C>A | CA377360796 | MAT1A | c.824G>T (p.Gly275Val) n.56G>T n.336G>T c.701G>T (p.Gly234Val) | gnomAD v4 |
| 10 | g.80275144C>G | CA377360797 | MAT1A | c.824G>C (p.Gly275Ala) n.56G>C n.336G>C c.701G>C (p.Gly234Ala) | |
| 10 | g.80275144C>T | CA377360798 | MAT1A | c.824G>A (p.Gly275Glu) n.56G>A n.336G>A c.701G>A (p.Gly234Glu) | |
| 10 | g.80275144_80275148del | CA2741110960 | MAT1A | c.820_824del (p.Trp274GlyfsTer?) n.52_56del n.332_336del c.697_701del (p.Trp233GlyfsTer?) | |
| 10 | g.80275144_80275145insGA | CA2554286955 | MAT1A | c.823_824insTC (p.Gly275ValfsTer17) n.55_56insTC n.335_336insTC c.700_701insTC (p.Gly234ValfsTer17) | |
| 10 | g.80275145C>A | CA377360799 | MAT1A | c.823G>T (p.Gly275Trp) n.55G>T n.335G>T c.700G>T (p.Gly234Trp) | |
| 10 | g.80275145C= | CA1922573490 | MAT1A | c.823G= (p.Gly275=) n.55G= n.335G= c.700G= (p.Gly234=) | |
| 10 | g.80275145C>G | CA377360800 | MAT1A | c.823G>C (p.Gly275Arg) n.55G>C n.335G>C c.700G>C (p.Gly234Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275145C>T | CA377360801 | MAT1A | c.823G>A (p.Gly275Arg) n.55G>A n.335G>A c.700G>A (p.Gly234Arg) | dbSNP gnomAD v2 |
| 10 | g.80275146C>A | CA377360806 | MAT1A | c.822G>T (p.Trp274Cys) n.54G>T n.334G>T c.699G>T (p.Trp233Cys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.80275146C= | CA1922573492 | MAT1A | c.822G= (p.Trp274=) n.54G= n.334G= c.699G= (p.Trp233=) | |
| 10 | g.80275146C>G | CA377360803 | MAT1A | c.822G>C (p.Trp274Cys) n.54G>C n.334G>C c.699G>C (p.Trp233Cys) | |
| 10 | g.80275146C>T | CA377360804 | MAT1A | c.822G>A (p.Trp274Ter) n.54G>A n.334G>A c.699G>A (p.Trp233Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80275147C>A | CA377360808 | MAT1A | c.821G>T (p.Trp274Leu) n.53G>T n.333G>T c.698G>T (p.Trp233Leu) | |
| 10 | g.80275147C= | CA1922573498 | MAT1A | c.821G= (p.Trp274=) n.53G= n.333G= c.698G= (p.Trp233=) | |
| 10 | g.80275147C>G | CA377360809 | MAT1A | c.821G>C (p.Trp274Ser) n.53G>C n.333G>C c.698G>C (p.Trp233Ser) | gnomAD v4 |
| 10 | g.80275147C>T | CA377360810 | MAT1A | c.821G>A (p.Trp274Ter) n.53G>A n.333G>A c.698G>A (p.Trp233Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.80275148A>C | CA377360812 | MAT1A | c.820T>G (p.Trp274Gly) n.52T>G n.332T>G c.697T>G (p.Trp233Gly) | |
| 10 | g.80275148A>G | CA377360814 | MAT1A | c.820T>C (p.Trp274Arg) n.52T>C n.332T>C c.697T>C (p.Trp233Arg) | |
| 10 | g.80275148A>T | CA377360816 | MAT1A | c.820T>A (p.Trp274Arg) n.52T>A n.332T>A c.697T>A (p.Trp233Arg) | |
| 10 | g.80275148_80275149insT | CA2509837927 | MAT1A | c.819_820insA (p.Trp274MetfsTer?) n.51_52insA n.331_332insA c.696_697insA (p.Trp233MetfsTer?) | |
| 10 | g.80275149G>A | CA470467387 | MAT1A | c.819C>T (p.Gly273=) n.51C>T n.331C>T c.696C>T (p.Gly232=) | COSMIC |
| 10 | g.80275149G>C | CA470467388 | MAT1A | c.819C>G (p.Gly273=) n.51C>G n.331C>G c.696C>G (p.Gly232=) | dbSNP gnomAD v2 |
| 10 | g.80275149G= | CA1922573503 | MAT1A | c.819C= (p.Gly273=) n.51C= n.331C= c.696C= (p.Gly232=) | |
| 10 | g.80275149G>T | CA470467389 | MAT1A | c.819C>A (p.Gly273=) n.51C>A n.331C>A c.696C>A (p.Gly232=) | |
| 10 | g.80275149_80275150insAA | CA2741110961 | MAT1A | c.818_819insTT (p.Trp274SerfsTer18) n.50_51insTT n.330_331insTT c.695_696insTT (p.Trp233SerfsTer18) | |
| 10 | g.80275150C>A | CA377360817 | MAT1A | c.818G>T (p.Gly273Val) n.50G>T n.330G>T c.695G>T (p.Gly232Val) | gnomAD v4 |
| 10 | g.80275150C= | CA1922573507 | MAT1A | c.818G= (p.Gly273=) n.50G= n.330G= c.695G= (p.Gly232=) | |
| 10 | g.80275150C>G | CA377360818 | MAT1A | c.818G>C (p.Gly273Ala) n.50G>C n.330G>C c.695G>C (p.Gly232Ala) | gnomAD v4 |
| 10 | g.80275150C>T | CA377360820 | MAT1A | c.818G>A (p.Gly273Asp) n.50G>A n.330G>A c.695G>A (p.Gly232Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275151C>A | CA377360822 | MAT1A | c.817G>T (p.Gly273Cys) n.49G>T n.329G>T c.694G>T (p.Gly232Cys) | gnomAD v4 |
| 10 | g.80275151C= | CA1922573509 | MAT1A | c.817G= (p.Gly273=) n.49G= n.329G= c.694G= (p.Gly232=) | |
| 10 | g.80275151C>G | CA377360824 | MAT1A | c.817G>C (p.Gly273Arg) n.49G>C n.329G>C c.694G>C (p.Gly232Arg) | |
| 10 | g.80275151C>T | CA5576693 | MAT1A | c.817G>A (p.Gly273Ser) n.49G>A n.329G>A c.694G>A (p.Gly232Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80275152G>A | CA5576694 | MAT1A | c.816C>T (p.Gly272=) n.48C>T n.328C>T c.693C>T (p.Gly231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.80275152G>C | CA470467390 | MAT1A | c.816C>G (p.Gly272=) n.48C>G n.328C>G c.693C>G (p.Gly231=) | |
| 10 | g.80275152G= | CA1922573513 | MAT1A | c.816C= (p.Gly272=) n.48C= n.328C= c.693C= (p.Gly231=) | |
| 10 | g.80275152G>T | CA5576695 | MAT1A | c.816C>A (p.Gly272=) n.48C>A n.328C>A c.693C>A (p.Gly231=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275153C>A | CA377360827 | MAT1A | c.815G>T (p.Gly272Val) n.47G>T n.327G>T c.692G>T (p.Gly231Val) | |
| 10 | g.80275153C>G | CA377360829 | MAT1A | c.815G>C (p.Gly272Ala) n.47G>C n.327G>C c.692G>C (p.Gly231Ala) | |
| 10 | g.80275153C>T | CA377360828 | MAT1A | c.815G>A (p.Gly272Asp) n.47G>A n.327G>A c.692G>A (p.Gly231Asp) | |
| 10 | g.80275154C>A | CA377360830 | MAT1A | c.814G>T (p.Gly272Cys) n.46G>T n.326G>T c.691G>T (p.Gly231Cys) | |
| 10 | g.80275154C>G | CA377360833 | MAT1A | c.814G>C (p.Gly272Arg) n.46G>C n.326G>C c.691G>C (p.Gly231Arg) | |
| 10 | g.80275154C>T | CA377360831 | MAT1A | c.814G>A (p.Gly272Ser) n.46G>A n.326G>A c.691G>A (p.Gly231Ser) | |
| 10 | g.80275155A= | CA1922573520 | MAT1A | c.813T= (p.Tyr271=) n.45T= n.325T= c.690T= (p.Tyr230=) | |
| 10 | g.80275155A>C | CA377360834 | MAT1A | c.813T>G (p.Tyr271Ter) n.45T>G n.325T>G c.690T>G (p.Tyr230Ter) | |
| 10 | g.80275155A>G | CA470467391 | MAT1A | c.813T>C (p.Tyr271=) n.45T>C n.325T>C c.690T>C (p.Tyr230=) | dbSNP gnomAD v4 |
| 10 | g.80275155A>T | CA377360835 | MAT1A | c.813T>A (p.Tyr271Ter) n.45T>A n.325T>A c.690T>A (p.Tyr230Ter) | |
| 10 | g.80275156T>A | CA377360838 | MAT1A | c.812A>T (p.Tyr271Phe) n.44A>T n.324A>T c.689A>T (p.Tyr230Phe) | dbSNP gnomAD v4 |
| 10 | g.80275156T>C | CA377360841 | MAT1A | c.812A>G (p.Tyr271Cys) n.44A>G n.324A>G c.689A>G (p.Tyr230Cys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.80275156T>G | CA377360840 | MAT1A | c.812A>C (p.Tyr271Ser) n.44A>C n.324A>C c.689A>C (p.Tyr230Ser) | |
| 10 | g.80275156T= | CA1922573525 | MAT1A | c.812A= (p.Tyr271=) n.44A= n.324A= c.689A= (p.Tyr230=) | |
| 10 | g.80275157A>C | CA377360843 | MAT1A | c.811T>G (p.Tyr271Asp) n.43T>G n.323T>G c.688T>G (p.Tyr230Asp) | |
| 10 | g.80275157A>G | CA377360845 | MAT1A | c.811T>C (p.Tyr271His) n.43T>C n.323T>C c.688T>C (p.Tyr230His) | |
| 10 | g.80275157A>T | CA377360844 | MAT1A | c.811T>A (p.Tyr271Asn) n.43T>A n.323T>A c.688T>A (p.Tyr230Asn) | |
| 10 | g.80275158G>A | CA470467392 | MAT1A | c.810C>T (p.Thr270=) n.42C>T n.322C>T c.687C>T (p.Thr229=) | dbSNP |
| 10 | g.80275158G>C | CA470467394 | MAT1A | c.810C>G (p.Thr270=) n.42C>G n.322C>G c.687C>G (p.Thr229=) | |
| 10 | g.80275158G= | CA1922573527 | MAT1A | c.810C= (p.Thr270=) n.42C= n.322C= c.687C= (p.Thr229=) | |
| 10 | g.80275158G>T | CA470467393 | MAT1A | c.810C>A (p.Thr270=) n.42C>A n.322C>A c.687C>A (p.Thr229=) | dbSNP gnomAD v4 |
| 10 | g.80275159G>A | CA377360847 | MAT1A | c.809C>T (p.Thr270Ile) n.41C>T n.321C>T c.686C>T (p.Thr229Ile) | |
| 10 | g.80275159G>C | CA377360848 | MAT1A | c.809C>G (p.Thr270Ser) n.41C>G n.321C>G c.686C>G (p.Thr229Ser) | |
| 10 | g.80275159G= | CA1922573529 | MAT1A | c.809C= (p.Thr270=) n.41C= n.321C= c.686C= (p.Thr229=) | |
| 10 | g.80275159G>T | CA377360850 | MAT1A | c.809C>A (p.Thr270Asn) n.41C>A n.321C>A c.686C>A (p.Thr229Asn) | dbSNP gnomAD v4 |
| 10 | g.80275160T>A | CA377360852 | MAT1A | c.808A>T (p.Thr270Ser) n.40A>T n.320A>T c.685A>T (p.Thr229Ser) | dbSNP |
| 10 | g.80275160T>C | CA377360853 | MAT1A | c.808A>G (p.Thr270Ala) n.40A>G n.320A>G c.685A>G (p.Thr229Ala) | |
| 10 | g.80275160T>G | CA377360855 | MAT1A | c.808A>C (p.Thr270Pro) n.40A>C n.320A>C c.685A>C (p.Thr229Pro) | |
| 10 | g.80275160T= | CA1922573531 | MAT1A | c.808A= (p.Thr270=) n.40A= n.320A= c.685A= (p.Thr229=) | |
| 10 | g.80275161G>A | CA5576696 | MAT1A | c.807C>T (p.Asp269=) n.39C>T n.319C>T c.684C>T (p.Asp228=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.80275161G>C | CA377360857 | MAT1A | c.807C>G (p.Asp269Glu) n.39C>G n.319C>G c.684C>G (p.Asp228Glu) | |
| 10 | g.80275161G= | CA1922573533 | MAT1A | c.807C= (p.Asp269=) n.39C= n.319C= c.684C= (p.Asp228=) | |
| 10 | g.80275161G>T | CA377360858 | MAT1A | c.807C>A (p.Asp269Glu) n.39C>A n.319C>A c.684C>A (p.Asp228Glu) | |
| 10 | g.80275162T>A | CA377360860 | MAT1A | c.806A>T (p.Asp269Val) n.38A>T n.318A>T c.683A>T (p.Asp228Val) | |
| 10 | g.80275162T>C | CA377360861 | MAT1A | c.806A>G (p.Asp269Gly) n.38A>G n.318A>G c.683A>G (p.Asp228Gly) | gnomAD v4 |
| 10 | g.80275162T>G | CA377360862 | MAT1A | c.806A>C (p.Asp269Ala) n.38A>C n.318A>C c.683A>C (p.Asp228Ala) | |
| 10 | g.80275163C>A | CA377360867 | MAT1A | c.805G>T (p.Asp269Tyr) n.37G>T n.317G>T c.682G>T (p.Asp228Tyr) | |
| 10 | g.80275163C>G | CA377360865 | MAT1A | c.805G>C (p.Asp269His) n.37G>C n.317G>C c.682G>C (p.Asp228His) | |
| 10 | g.80275163C>T | CA377360864 | MAT1A | c.805G>A (p.Asp269Asn) n.37G>A n.317G>A c.682G>A (p.Asp228Asn) | |
| 10 | g.80275164C>A | CA470467395 | MAT1A | c.804G>T (p.Val268=) n.36G>T n.316G>T c.681G>T (p.Val227=) | |
| 10 | g.80275164C>G | CA470467396 | MAT1A | c.804G>C (p.Val268=) n.36G>C n.316G>C c.681G>C (p.Val227=) | |
| 10 | g.80275164C>T | CA470467397 | MAT1A | c.804G>A (p.Val268=) n.36G>A n.316G>A c.681G>A (p.Val227=) | dbSNP COSMIC |
| 10 | g.80275165A>C | CA377360868 | MAT1A | c.803T>G (p.Val268Gly) n.35T>G n.315T>G c.680T>G (p.Val227Gly) | |
| 10 | g.80275165A>G | CA377360870 | MAT1A | c.803T>C (p.Val268Ala) n.35T>C n.315T>C c.680T>C (p.Val227Ala) | |
| 10 | g.80275165A>T | CA377360872 | MAT1A | c.803T>A (p.Val268Glu) n.35T>A n.315T>A c.680T>A (p.Val227Glu) | |
| 10 | g.80275166C>A | CA377360873 | MAT1A | c.802G>T (p.Val268Leu) n.34G>T n.314G>T c.679G>T (p.Val227Leu) | |
| 10 | g.80275166C= | CA1922573537 | MAT1A | c.802G= (p.Val268=) n.34G= n.314G= c.679G= (p.Val227=) | |
| 10 | g.80275166C>G | CA377360874 | MAT1A | c.802G>C (p.Val268Leu) n.34G>C n.314G>C c.679G>C (p.Val227Leu) | |
| 10 | g.80275166C>T | CA377360876 | MAT1A | c.802G>A (p.Val268Met) n.34G>A n.314G>A c.679G>A (p.Val227Met) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275167A>C | CA377360878 | MAT1A | c.801T>G (p.Ile267Met) n.33T>G n.313T>G c.678T>G (p.Ile226Met) | |
| 10 | g.80275167A>G | CA470467398 | MAT1A | c.801T>C (p.Ile267=) n.33T>C n.313T>C c.678T>C (p.Ile226=) | |
| 10 | g.80275167A>T | CA470467399 | MAT1A | c.801T>A (p.Ile267=) n.33T>A n.313T>A c.678T>A (p.Ile226=) | |
| 10 | g.80275168A>C | CA377360879 | MAT1A | c.800T>G (p.Ile267Ser) n.32T>G n.312T>G c.677T>G (p.Ile226Ser) | |
| 10 | g.80275168A>G | CA377360881 | MAT1A | c.800T>C (p.Ile267Thr) n.32T>C n.312T>C c.677T>C (p.Ile226Thr) | |
| 10 | g.80275168A>T | CA377360883 | MAT1A | c.800T>A (p.Ile267Asn) n.32T>A n.312T>A c.677T>A (p.Ile226Asn) | |
| 10 | g.80275169T>A | CA377360885 | MAT1A | c.799A>T (p.Ile267Phe) n.31A>T n.311A>T c.676A>T (p.Ile226Phe) | |
| 10 | g.80275169T>C | CA377360886 | MAT1A | c.799A>G (p.Ile267Val) n.31A>G n.311A>G c.676A>G (p.Ile226Val) | dbSNP gnomAD v4 |
| 10 | g.80275169T>G | CA377360888 | MAT1A | c.799A>C (p.Ile267Leu) n.31A>C n.311A>C c.676A>C (p.Ile226Leu) | |
| 10 | g.80275169T= | CA1922573540 | MAT1A | c.799A= (p.Ile267=) n.31A= n.311A= c.676A= (p.Ile226=) | |
| 10 | g.80275170A= | CA1922573542 | MAT1A | c.798T= (p.Ile266=) n.30T= n.310T= c.675T= (p.Ile225=) | |
| 10 | g.80275170A>C | CA377360890 | MAT1A | c.798T>G (p.Ile266Met) n.30T>G n.310T>G c.675T>G (p.Ile225Met) | |
| 10 | g.80275170A>G | CA470467401 | MAT1A | c.798T>C (p.Ile266=) n.30T>C n.310T>C c.675T>C (p.Ile225=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.80275170A>T | CA470467400 | MAT1A | c.798T>A (p.Ile266=) n.30T>A n.310T>A c.675T>A (p.Ile225=) | |
| 10 | g.80275171A>C | CA377360895 | MAT1A | c.797T>G (p.Ile266Ser) n.29T>G n.309T>G c.674T>G (p.Ile225Ser) | |
| 10 | g.80275171A>G | CA377360892 | MAT1A | c.797T>C (p.Ile266Thr) n.29T>C n.309T>C c.674T>C (p.Ile225Thr) | |
| 10 | g.80275171A>T | CA377360893 | MAT1A | c.797T>A (p.Ile266Asn) n.29T>A n.309T>A c.674T>A (p.Ile225Asn) | |
| 10 | g.80275172T>A | CA377360896 | MAT1A | c.796A>T (p.Ile266Phe) n.28A>T n.308A>T c.673A>T (p.Ile225Phe) | |
| 10 | g.80275172T>C | CA377360897 | MAT1A | c.796A>G (p.Ile266Val) n.28A>G n.308A>G c.673A>G (p.Ile225Val) | dbSNP |
| 10 | g.80275172T>G | CA377360899 | MAT1A | c.796A>C (p.Ile266Leu) n.28A>C n.308A>C c.673A>C (p.Ile225Leu) | |
| 10 | g.80275172T= | CA1922573544 | MAT1A | c.796A= (p.Ile266=) n.28A= n.308A= c.673A= (p.Ile225=) | |
| 10 | g.80275173C>A | CA377360901 | MAT1A | c.795G>T (p.Lys265Asn) n.27G>T n.307G>T c.672G>T (p.Lys224Asn) | |
| 10 | g.80275173C= | CA1922573547 | MAT1A | c.795G= (p.Lys265=) n.27G= n.307G= c.672G= (p.Lys224=) | |
| 10 | g.80275173C>G | CA5576697 | MAT1A | c.795G>C (p.Lys265Asn) n.27G>C n.307G>C c.672G>C (p.Lys224Asn) | dbSNP ExAC gnomAD v4 |
| 10 | g.80275173C>T | CA470467402 | MAT1A | c.795G>A (p.Lys265=) n.27G>A n.307G>A c.672G>A (p.Lys224=) | |
| 10 | g.80275174T>A | CA377360903 | MAT1A | c.794A>T (p.Lys265Met) n.26A>T n.306A>T c.671A>T (p.Lys224Met) | |
| 10 | g.80275174T>C | CA377360904 | MAT1A | c.794A>G (p.Lys265Arg) n.26A>G n.306A>G c.671A>G (p.Lys224Arg) | |
| 10 | g.80275174T>G | CA377360905 | MAT1A | c.794A>C (p.Lys265Thr) n.26A>C n.306A>C c.671A>C (p.Lys224Thr) | |
| 10 | g.80275175T>A | CA377360906 | MAT1A | c.793A>T (p.Lys265Ter) n.25A>T n.305A>T c.670A>T (p.Lys224Ter) | |
| 10 | g.80275175T>C | CA377360908 | MAT1A | c.793A>G (p.Lys265Glu) n.25A>G n.305A>G c.670A>G (p.Lys224Glu) | |
| 10 | g.80275175T>G | CA377360910 | MAT1A | c.793A>C (p.Lys265Gln) n.25A>C n.305A>C c.670A>C (p.Lys224Gln) | |
| 10 | g.80275176A= | CA1922573550 | MAT1A | c.792T= (p.Arg264=) n.24T= n.304T= c.669T= (p.Arg223=) | |
| 10 | g.80275176A>C | CA470467403 | MAT1A | c.792T>G (p.Arg264=) n.24T>G n.304T>G c.669T>G (p.Arg223=) | |
| 10 | g.80275176A>G | CA470467404 | MAT1A | c.792T>C (p.Arg264=) n.24T>C n.304T>C c.669T>C (p.Arg223=) | dbSNP |
| 10 | g.80275176A>T | CA470467405 | MAT1A | c.792T>A (p.Arg264=) n.24T>A n.304T>A c.669T>A (p.Arg223=) | dbSNP |
| 10 | g.80275177C>A | CA377360912 | MAT1A | c.791G>T (p.Arg264Leu) n.23G>T n.303G>T c.668G>T (p.Arg223Leu) | |
| 10 | g.80275177C= | CA1922573554 | MAT1A | c.791G= (p.Arg264=) n.23G= n.303G= c.668G= (p.Arg223=) | |
| 10 | g.80275177C>G | CA377360913 | MAT1A | c.791G>C (p.Arg264Pro) n.23G>C n.303G>C c.668G>C (p.Arg223Pro) | |
| 10 | g.80275177C>T | CA114840 | MAT1A | c.791G>A (p.Arg264His) n.23G>A n.303G>A c.668G>A (p.Arg223His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.80275178G>A | CA114841 | MAT1A | c.790C>T (p.Arg264Cys) n.22C>T n.302C>T c.667C>T (p.Arg223Cys) | ClinVar dbSNP gnomAD v4 |
| 10 | g.80275178G>C | CA377360916 | MAT1A | c.790C>G (p.Arg264Gly) n.22C>G n.302C>G c.667C>G (p.Arg223Gly) | |
| 10 | g.80275178G= | CA1922573561 | MAT1A | c.790C= (p.Arg264=) n.22C= n.302C= c.667C= (p.Arg223=) | |
| 10 | g.80275178G>T | CA377360918 | MAT1A | c.790C>A (p.Arg264Ser) n.22C>A n.302C>A c.667C>A (p.Arg223Ser) | |
| 10 | g.80275179G>A | CA5576698 | MAT1A | c.789C>T (p.Gly263=) n.21C>T n.301C>T c.666C>T (p.Gly222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.80275179G>C | CA470467407 | MAT1A | c.789C>G (p.Gly263=) n.21C>G n.301C>G c.666C>G (p.Gly222=) | |
| 10 | g.80275179G= | CA1922573565 | MAT1A | c.789C= (p.Gly263=) n.21C= n.301C= c.666C= (p.Gly222=) | |
| 10 | g.80275179G>T | CA470467406 | MAT1A | c.789C>A (p.Gly263=) n.21C>A n.301C>A c.666C>A (p.Gly222=) | |
| 10 | g.80275180C>A | CA377360924 | MAT1A | c.788G>T (p.Gly263Val) n.20G>T n.300G>T c.665G>T (p.Gly222Val) | |
| 10 | g.80275180C>G | CA377360923 | MAT1A | c.788G>C (p.Gly263Ala) n.20G>C n.300G>C c.665G>C (p.Gly222Ala) | |
| 10 | g.80275180C>T | CA377360921 | MAT1A | c.788G>A (p.Gly263Asp) n.20G>A n.300G>A c.665G>A (p.Gly222Asp) | |
| 10 | g.80275181C>A | CA377360926 | MAT1A | c.787G>T (p.Gly263Cys) n.19G>T n.299G>T c.664G>T (p.Gly222Cys) | |
| 10 | g.80275181C>G | CA377360928 | MAT1A | c.787G>C (p.Gly263Arg) n.19G>C n.299G>C c.664G>C (p.Gly222Arg) | |
| 10 | g.80275181C>T | CA377360930 | MAT1A | c.787G>A (p.Gly263Ser) n.19G>A n.299G>A c.664G>A (p.Gly222Ser) | gnomAD v4 |
| 10 | g.80275182A= | CA1922573569 | MAT1A | c.786T= (p.Thr262=) n.18T= n.298T= c.663T= (p.Thr221=) | |
| 10 | g.80275182A>C | CA470467408 | MAT1A | c.786T>G (p.Thr262=) n.18T>G n.298T>G c.663T>G (p.Thr221=) | dbSNP |
| 10 | g.80275182A>G | CA470467409 | MAT1A | c.786T>C (p.Thr262=) n.18T>C n.298T>C c.663T>C (p.Thr221=) | dbSNP |
| 10 | g.80275182A>T | CA470467410 | MAT1A | c.786T>A (p.Thr262=) n.18T>A n.298T>A c.663T>A (p.Thr221=) | |
| 10 | g.80275183G>A | CA377360932 | MAT1A | c.785C>T (p.Thr262Ile) n.17C>T n.297C>T c.662C>T (p.Thr221Ile) | |
| 10 | g.80275183G>C | CA377360933 | MAT1A | c.785C>G (p.Thr262Ser) n.17C>G n.297C>G c.662C>G (p.Thr221Ser) | |
| 10 | g.80275183G>T | CA377360935 | MAT1A | c.785C>A (p.Thr262Asn) n.17C>A n.297C>A c.662C>A (p.Thr221Asn) | COSMIC |
| 10 | g.80275184T>A | CA377360936 | MAT1A | c.784A>T (p.Thr262Ser) n.16A>T n.296A>T c.661A>T (p.Thr221Ser) | |
| 10 | g.80275184T>C | CA377360940 | MAT1A | c.784A>G (p.Thr262Ala) n.16A>G n.296A>G c.661A>G (p.Thr221Ala) | |
| 10 | g.80275184T>G | CA377360937 | MAT1A | c.784A>C (p.Thr262Pro) n.16A>C n.296A>C c.661A>C (p.Thr221Pro) | |
| 10 | g.80275184_80275185insCAGGCCCGC | CA2549921907 | MAT1A | c.783_784insGCGGGCCTG (p.Val261_Thr262insAlaGlyLeu) n.15_16insGCGGGCCTG n.295_296insGCGGGCCTG c.660_661insGCGGGCCTG (p.Val220_Thr221insAlaGlyLeu) | |
| 10 | g.80275184_80275185insCAGGCCCGCGTCACCCACGG | CA2549650491 | MAT1A | c.783_784insCCGTGGGTGACGCGGGCCTG (p.Thr262ProfsTer7) n.15_16insCCGTGGGTGACGCGGGCCTG n.295_296insCCGTGGGTGACGCGGGCCTG c.660_661insCCGTGGGTGACGCGGGCCTG (p.Thr221ProfsTer7) | |
| 10 | g.80275185G>A | CA470467411 | MAT1A | c.783C>T (p.Val261=) n.15C>T n.295C>T c.660C>T (p.Val220=) | |
| 10 | g.80275185G>C | CA470467412 | MAT1A | c.783C>G (p.Val261=) n.15C>G n.295C>G c.660C>G (p.Val220=) | |
| 10 | g.80275185G>T | CA470467413 | MAT1A | c.783C>A (p.Val261=) n.15C>A n.295C>A c.660C>A (p.Val220=) | |
| 10 | g.80275185_80275186del | CA2545355389 | MAT1A | c.782_783del (p.Val261AspfsTer4) n.14_15del n.294_295del c.659_660del (p.Val220AspfsTer4) |