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 |
|---|---|---|---|---|---|
| 6 | g.18130597_18130599dup | CA2677457399 | TPMT | c.*70_*72dup (n.*70_*72dup) | gnomAD v4 |
| 6 | g.18130599T>C | CA822712260 | TPMT | c.*69A>G (n.*69A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130599T= | CA1613545625 | TPMT | c.*69A= (n.*69A=) | |
| 6 | g.18130600C>T | CA2578538773 | TPMT | c.*68G>A (n.*68G>A) | gnomAD v4 |
| 6 | g.18130601A= | CA1613545627 | TPMT | c.*67T= (n.*67T=) | |
| 6 | g.18130601A>C | CA2677457402 | TPMT | c.*67T>G (n.*67T>G) | gnomAD v4 |
| 6 | g.18130601A>G | CA822712270 | TPMT | c.*67T>C (n.*67T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130601A>T | CA2677457401 | TPMT | c.*67T>A (n.*67T>A) | gnomAD v4 |
| 6 | g.18130602G>T | CA2578538774 | TPMT | c.*66C>A (n.*66C>A) | |
| 6 | g.18130603G>A | CA1613545631 | TPMT | c.*65C>T (n.*65C>T) | dbSNP |
| 6 | g.18130603G>C | CA2677457403 | TPMT | c.*65C>G (n.*65C>G) | gnomAD v4 |
| 6 | g.18130603G= | CA1613545630 | TPMT | c.*65C= (n.*65C=) | |
| 6 | g.18130603G>T | CA2578538775 | TPMT | c.*65C>A (n.*65C>A) | gnomAD v4 |
| 6 | g.18130604C>A | CA2677457404 | TPMT | c.*64G>T (n.*64G>T) | gnomAD v4 |
| 6 | g.18130604C>T | CA2677457405 | TPMT | c.*64G>A (n.*64G>A) | gnomAD v4 |
| 6 | g.18130608A= | CA1613545635 | TPMT | c.*60T= (n.*60T=) | |
| 6 | g.18130608A>G | CA10623502 | TPMT | c.*60T>C (n.*60T>C) | dbSNP gnomAD v4 |
| 6 | g.18130609G>A | CA2677457406 | TPMT | c.*59C>T (n.*59C>T) | gnomAD v4 |
| 6 | g.18130609G>T | CA2578538776 | TPMT | c.*59C>A (n.*59C>A) | gnomAD v4 |
| 6 | g.18130610C>A | CA2677457407 | TPMT | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 6 | g.18130610C= | CA1613545645 | TPMT | c.*58G= (n.*58G=) | |
| 6 | g.18130610C>T | CA822712275 | TPMT | c.*58G>A (n.*58G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130611A= | CA1613545647 | TPMT | c.*57T= (n.*57T=) | |
| 6 | g.18130611A>G | CA1086467202 | TPMT | c.*57T>C (n.*57T>C) | dbSNP gnomAD v4 |
| 6 | g.18130618del | CA2592898342 | TPMT | c.*53del (n.*53del) | gnomAD v3 gnomAD v4 |
| 6 | g.18130617T>C | CA2677457408 | TPMT | c.*51A>G (n.*51A>G) | gnomAD v4 |
| 6 | g.18130618T>C | CA2677457409 | TPMT | c.*50A>G (n.*50A>G) | gnomAD v4 |
| 6 | g.18130619C= | CA1613545651 | TPMT | c.*49G= (n.*49G=) | |
| 6 | g.18130619C>T | CA3650075 | TPMT | c.*49G>A (n.*49G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130620A>G | CA2677457411 | TPMT | c.*48T>C (n.*48T>C) | gnomAD v4 |
| 6 | g.18130621A>G | CA2578538777 | TPMT | c.*47T>C (n.*47T>C) | gnomAD v4 |
| 6 | g.18130623T>C | CA2677457412 | TPMT | c.*45A>G (n.*45A>G) | gnomAD v4 |
| 6 | g.18130624C>A | CA2770170794 | TPMT | c.*44G>T (n.*44G>T) | |
| 6 | g.18130624C= | CA1613545656 | TPMT | c.*44G= (n.*44G=) | |
| 6 | g.18130624C>T | CA10626349 | TPMT | c.*44G>A (n.*44G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130625C= | CA1613545661 | TPMT | c.*43G= (n.*43G=) | |
| 6 | g.18130625C>T | CA1613545662 | TPMT | c.*43G>A (n.*43G>A) | dbSNP |
| 6 | g.18130627C= | CA1613545664 | TPMT | c.*41G= (n.*41G=) | |
| 6 | g.18130632dup | CA917687366 | TPMT | c.*40dup (n.*40dup) | dbSNP |
| 6 | g.18130629A= | CA1613545668 | TPMT | c.*39T= (n.*39T=) | |
| 6 | g.18130629A>C | CA2677457413 | TPMT | c.*39T>G (n.*39T>G) | gnomAD v4 |
| 6 | g.18130629A>G | CA822712281 | TPMT | c.*39T>C (n.*39T>C) | dbSNP |
| 6 | g.18130630A>T | CA2677457414 | TPMT | c.*38T>A (n.*38T>A) | gnomAD v4 |
| 6 | g.18130632A>C | CA2677457415 | TPMT | c.*36T>G (n.*36T>G) | gnomAD v4 |
| 6 | g.18130632A>G | CA2677457416 | TPMT | c.*36T>C (n.*36T>C) | gnomAD v4 |
| 6 | g.18130633del | CA2677457417 | TPMT | c.*35del (n.*35del) | gnomAD v4 |
| 6 | g.18130635T>A | CA3650076 | TPMT | c.*33A>T (n.*33A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130635T>C | CA1613545673 | TPMT | c.*33A>G (n.*33A>G) | dbSNP gnomAD v4 |
| 6 | g.18130635T= | CA1613545671 | TPMT | c.*33A= (n.*33A=) | |
| 6 | g.18130636G>T | CA2578538778 | TPMT | c.*32C>A (n.*32C>A) | |
| 6 | g.18130637_18130638delinsTC | CA1613545674 | TPMT | c.*30_*31delinsGA (n.*30_*31delinsGA) | |
| 6 | g.18130638del | CA822712294 | TPMT | c.*30del (n.*30del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130640G>A | CA565555000 | TPMT | c.*28C>T (n.*28C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130640G= | CA1613545678 | TPMT | c.*28C= (n.*28C=) | |
| 6 | g.18130640G>T | CA2677457422 | TPMT | c.*28C>A (n.*28C>A) | gnomAD v4 |
| 6 | g.18130641T>C | CA565555001 | TPMT | c.*27A>G (n.*27A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130641T= | CA1613545681 | TPMT | c.*27A= (n.*27A=) | |
| 6 | g.18130642G>T | CA2677457424 | TPMT | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 6 | g.18130644_18130649delinsGATTTT | CA1613545684 | TPMT | c.*19_*24delinsAAAATC (n.*19_*24delinsAAAATC) | |
| 6 | g.18130645A= | CA1613545687 | TPMT | c.*23T= (n.*23T=) | |
| 6 | g.18130645A>C | CA134961543 | TPMT | c.*23T>G (n.*23T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130652_18130656del | CA565555002 | TPMT | c.*19_*23del (n.*19_*23del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130646T>G | CA2677457431 | TPMT | c.*22A>C (n.*22A>C) | gnomAD v4 |
| 6 | g.18130649del | CA2677457429 | TPMT | c.*22del (n.*22del) | gnomAD v4 |
| 6 | g.18130647T>A | CA2677457433 | TPMT | c.*21A>T (n.*21A>T) | gnomAD v4 |
| 6 | g.18130649T>C | CA565555004 | TPMT | c.*19A>G (n.*19A>G) | dbSNP gnomAD v2 |
| 6 | g.18130649T= | CA1613545691 | TPMT | c.*19A= (n.*19A=) | |
| 6 | g.18130650A>G | CA2578538779 | TPMT | c.*18T>C (n.*18T>C) | |
| 6 | g.18130651T>C | CA3650077 | TPMT | c.*17A>G (n.*17A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130651T= | CA1613545694 | TPMT | c.*17A= (n.*17A=) | |
| 6 | g.18130656T>C | CA3650078 | TPMT | c.*12A>G (n.*12A>G) | dbSNP ExAC gnomAD v2 |
| 6 | g.18130656T= | CA1613545695 | TPMT | c.*12A= (n.*12A=) | |
| 6 | g.18130657C= | CA1613545697 | TPMT | c.*11G= (n.*11G=) | |
| 6 | g.18130657C>T | CA822712309 | TPMT | c.*11G>A (n.*11G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130659_18130660del | CA2677457435 | TPMT | c.*9_*10del (n.*9_*10del) | gnomAD v4 |
| 6 | g.18130660T>C | CA565555006 | TPMT | c.*8A>G (n.*8A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130660T= | CA1613545700 | TPMT | c.*8A= (n.*8A=) | |
| 6 | g.18130661G>C | CA2770170798 | TPMT | c.*7C>G (n.*7C>G) | |
| 6 | g.18130661G= | CA1613545703 | TPMT | c.*7C= (n.*7C=) | |
| 6 | g.18130661G>T | CA565555007 | TPMT | c.*7C>A (n.*7C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130663C>T | CA2677457437 | TPMT | c.*5G>A (n.*5G>A) | gnomAD v4 |
| 6 | g.18130664T>C | CA2677457439 | TPMT | c.*4A>G (n.*4A>G) | gnomAD v4 |
| 6 | g.18130665C>A | CA2580577648 | TPMT | c.*3G>T (n.*3G>T) | dbSNP |
| 6 | g.18130665C= | CA1613545705 | TPMT | c.*3G= (n.*3G=) | |
| 6 | g.18130665C>G | CA2580577649 | TPMT | c.*3G>C (n.*3G>C) | |
| 6 | g.18130665C>T | CA3650079 | TPMT | c.*3G>A (n.*3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130667T>A | CA822712320 | TPMT | c.*1A>T (n.*1A>T) | dbSNP |
| 6 | g.18130667T>C | CA822712318 | TPMT | c.*1A>G (n.*1A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130667T= | CA1613545707 | TPMT | c.*1A= (n.*1A=) | |
| 6 | g.18130668T>A | CA362832058 | TPMT | c.738A>T (p.Ter246Tyr) c.693A>T (p.Ter231Tyr) c.669A>T (p.Ter223Tyr) | |
| 6 | g.18130668T>C | CA448764651 | TPMT | c.738A>G (p.Ter246=) c.693A>G (p.Ter231=) c.669A>G (p.Ter223=) | dbSNP |
| 6 | g.18130668T>G | CA362832060 | TPMT | c.738A>C (p.Ter246Tyr) c.693A>C (p.Ter231Tyr) c.669A>C (p.Ter223Tyr) | |
| 6 | g.18130668T= | CA1613545713 | TPMT | c.738A= (p.Ter246=) c.693A= (p.Ter231=) c.669A= (p.Ter223=) | |
| 6 | g.18130669T>A | CA362832062 | TPMT | c.737A>T (p.Ter246Leu) c.692A>T (p.Ter231Leu) c.668A>T (p.Ter223Leu) | |
| 6 | g.18130669T>C | CA448764652 | TPMT | c.737A>G (p.Ter246=) c.692A>G (p.Ter231=) c.668A>G (p.Ter223=) | gnomAD v4 |
| 6 | g.18130669T>G | CA362832065 | TPMT | c.737A>C (p.Ter246Ser) c.692A>C (p.Ter231Ser) c.668A>C (p.Ter223Ser) | |
| 6 | g.18130670del | CA2677457447 | TPMT | c.736del (p.Ter246LysextTer2) c.691del (p.Ter231LysextTer2) c.667del (p.Ter223LysextTer2) | gnomAD v4 |
| 6 | g.18130670A>C | CA362832069 | TPMT | c.736T>G (p.Ter246Glu) c.691T>G (p.Ter231Glu) c.667T>G (p.Ter223Glu) | |
| 6 | g.18130670A>G | CA362832068 | TPMT | c.736T>C (p.Ter246Gln) c.691T>C (p.Ter231Gln) c.667T>C (p.Ter223Gln) | |
| 6 | g.18130670A>T | CA362832067 | TPMT | c.736T>A (p.Ter246Lys) c.691T>A (p.Ter231Lys) c.667T>A (p.Ter223Lys) | |
| 6 | g.18130671C>A | CA362832070 | TPMT | c.735G>T (p.Lys245Asn) c.690G>T (p.Lys230Asn) c.666G>T (p.Lys222Asn) | |
| 6 | g.18130671C>G | CA362832071 | TPMT | c.735G>C (p.Lys245Asn) c.690G>C (p.Lys230Asn) c.666G>C (p.Lys222Asn) | |
| 6 | g.18130671C>T | CA448764653 | TPMT | c.735G>A (p.Lys245=) c.690G>A (p.Lys230=) c.666G>A (p.Lys222=) | |
| 6 | g.18130672T>A | CA362832072 | TPMT | c.734A>T (p.Lys245Met) c.689A>T (p.Lys230Met) c.665A>T (p.Lys222Met) | |
| 6 | g.18130672T>C | CA362832074 | TPMT | c.734A>G (p.Lys245Arg) c.689A>G (p.Lys230Arg) c.665A>G (p.Lys222Arg) | COSMIC |
| 6 | g.18130672T>G | CA362832073 | TPMT | c.734A>C (p.Lys245Thr) c.689A>C (p.Lys230Thr) c.665A>C (p.Lys222Thr) | |
| 6 | g.18130673T>A | CA362832075 | TPMT | c.733A>T (p.Lys245Ter) c.688A>T (p.Lys230Ter) c.664A>T (p.Lys222Ter) | |
| 6 | g.18130673T>C | CA362832077 | TPMT | c.733A>G (p.Lys245Glu) c.688A>G (p.Lys230Glu) c.664A>G (p.Lys222Glu) | |
| 6 | g.18130673T>G | CA362832076 | TPMT | c.733A>C (p.Lys245Gln) c.688A>C (p.Lys230Gln) c.664A>C (p.Lys222Gln) | |
| 6 | g.18130674T>A | CA362832078 | TPMT | c.732A>T (p.Glu244Asp) c.687A>T (p.Glu229Asp) c.663A>T (p.Glu221Asp) | |
| 6 | g.18130674T>C | CA448764654 | TPMT | c.732A>G (p.Glu244=) c.687A>G (p.Glu229=) c.663A>G (p.Glu221=) | |
| 6 | g.18130674T>G | CA362832079 | TPMT | c.732A>C (p.Glu244Asp) c.687A>C (p.Glu229Asp) c.663A>C (p.Glu221Asp) | |
| 6 | g.18130675T>A | CA362832080 | TPMT | c.731A>T (p.Glu244Val) c.686A>T (p.Glu229Val) c.662A>T (p.Glu221Val) | |
| 6 | g.18130675T>C | CA134961547 | TPMT | c.731A>G (p.Glu244Gly) c.686A>G (p.Glu229Gly) c.662A>G (p.Glu221Gly) | dbSNP |
| 6 | g.18130675T>G | CA362832081 | TPMT | c.731A>C (p.Glu244Ala) c.686A>C (p.Glu229Ala) c.662A>C (p.Glu221Ala) | |
| 6 | g.18130675T= | CA1613545716 | TPMT | c.731A= (p.Glu244=) c.686A= (p.Glu229=) c.662A= (p.Glu221=) | |
| 6 | g.18130676C>A | CA362832082 | TPMT | c.730G>T (p.Glu244Ter) c.685G>T (p.Glu229Ter) c.661G>T (p.Glu221Ter) | |
| 6 | g.18130676C>G | CA362832083 | TPMT | c.730G>C (p.Glu244Gln) c.685G>C (p.Glu229Gln) c.661G>C (p.Glu221Gln) | |
| 6 | g.18130676C>T | CA362832084 | TPMT | c.730G>A (p.Glu244Lys) c.685G>A (p.Glu229Lys) c.661G>A (p.Glu221Lys) | |
| 6 | g.18130677T>A | CA3650080 | TPMT | c.729A>T (p.Thr243=) c.684A>T (p.Thr228=) c.660A>T (p.Thr220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130677T>C | CA448764655 | TPMT | c.729A>G (p.Thr243=) c.684A>G (p.Thr228=) c.660A>G (p.Thr220=) | |
| 6 | g.18130677T>G | CA448764656 | TPMT | c.729A>C (p.Thr243=) c.684A>C (p.Thr228=) c.660A>C (p.Thr220=) | |
| 6 | g.18130677T= | CA1613545720 | TPMT | c.729A= (p.Thr243=) c.684A= (p.Thr228=) c.660A= (p.Thr220=) | |
| 6 | g.18130678G>A | CA362832085 | TPMT | c.728C>T (p.Thr243Ile) c.683C>T (p.Thr228Ile) c.659C>T (p.Thr220Ile) | |
| 6 | g.18130678G>C | CA362832086 | TPMT | c.728C>G (p.Thr243Arg) c.683C>G (p.Thr228Arg) c.659C>G (p.Thr220Arg) | |
| 6 | g.18130678G>T | CA362832087 | TPMT | c.728C>A (p.Thr243Lys) c.683C>A (p.Thr228Lys) c.659C>A (p.Thr220Lys) | |
| 6 | g.18130679T>A | CA362832090 | TPMT | c.727A>T (p.Thr243Ser) c.682A>T (p.Thr228Ser) c.658A>T (p.Thr220Ser) | |
| 6 | g.18130679T>C | CA362832088 | TPMT | c.727A>G (p.Thr243Ala) c.682A>G (p.Thr228Ala) c.658A>G (p.Thr220Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130679T>G | CA362832089 | TPMT | c.727A>C (p.Thr243Pro) c.682A>C (p.Thr228Pro) c.658A>C (p.Thr220Pro) | |
| 6 | g.18130679T= | CA1613545724 | TPMT | c.727A= (p.Thr243=) c.682A= (p.Thr228=) c.658A= (p.Thr220=) | |
| 6 | g.18130680A>C | CA448764657 | TPMT | c.726T>G (p.Leu242=) c.681T>G (p.Leu227=) c.657T>G (p.Leu219=) | |
| 6 | g.18130680A>G | CA448764658 | TPMT | c.726T>C (p.Leu242=) c.681T>C (p.Leu227=) c.657T>C (p.Leu219=) | |
| 6 | g.18130680A>T | CA448764659 | TPMT | c.726T>A (p.Leu242=) c.681T>A (p.Leu227=) c.657T>A (p.Leu219=) | |
| 6 | g.18130681del | CA2578538780 | TPMT | c.726del (p.Thr243GlnfsTer5) c.681del (p.Thr228GlnfsTer5) c.657del (p.Thr220GlnfsTer5) | |
| 6 | g.18130681A>C | CA362832091 | TPMT | c.725T>G (p.Leu242Arg) c.680T>G (p.Leu227Arg) c.656T>G (p.Leu219Arg) | |
| 6 | g.18130681A>G | CA362832093 | TPMT | c.725T>C (p.Leu242Pro) c.680T>C (p.Leu227Pro) c.656T>C (p.Leu219Pro) | |
| 6 | g.18130681A>T | CA362832095 | TPMT | c.725T>A (p.Leu242His) c.680T>A (p.Leu227His) c.656T>A (p.Leu219His) | |
| 6 | g.18130682G>A | CA362832096 | TPMT | c.724C>T (p.Leu242Phe) c.679C>T (p.Leu227Phe) c.655C>T (p.Leu219Phe) | |
| 6 | g.18130682G>C | CA362832098 | TPMT | c.724C>G (p.Leu242Val) c.679C>G (p.Leu227Val) c.655C>G (p.Leu219Val) | |
| 6 | g.18130682G>T | CA362832100 | TPMT | c.724C>A (p.Leu242Ile) c.679C>A (p.Leu227Ile) c.655C>A (p.Leu219Ile) | |
| 6 | g.18130683T>A | CA448764660 | TPMT | c.723A>T (p.Leu241=) c.678A>T (p.Leu226=) c.654A>T (p.Leu218=) | |
| 6 | g.18130683T>C | CA448764661 | TPMT | c.723A>G (p.Leu241=) c.678A>G (p.Leu226=) c.654A>G (p.Leu218=) | gnomAD v4 |
| 6 | g.18130683T>G | CA448764662 | TPMT | c.723A>C (p.Leu241=) c.678A>C (p.Leu226=) c.654A>C (p.Leu218=) | |
| 6 | g.18130684A>C | CA362832102 | TPMT | c.722T>G (p.Leu241Arg) c.677T>G (p.Leu226Arg) c.653T>G (p.Leu218Arg) | |
| 6 | g.18130684A>G | CA362832104 | TPMT | c.722T>C (p.Leu241Pro) c.677T>C (p.Leu226Pro) c.653T>C (p.Leu218Pro) | |
| 6 | g.18130684A>T | CA362832106 | TPMT | c.722T>A (p.Leu241Gln) c.677T>A (p.Leu226Gln) c.653T>A (p.Leu218Gln) | |
| 6 | g.18130685G>A | CA448764663 | TPMT | c.721C>T (p.Leu241=) c.676C>T (p.Leu226=) c.652C>T (p.Leu218=) | |
| 6 | g.18130685G>C | CA362832108 | TPMT | c.721C>G (p.Leu241Val) c.676C>G (p.Leu226Val) c.652C>G (p.Leu218Val) | |
| 6 | g.18130685G>T | CA362832109 | TPMT | c.721C>A (p.Leu241Ile) c.676C>A (p.Leu226Ile) c.652C>A (p.Leu218Ile) | |
| 6 | g.18130686A= | CA1613545727 | TPMT | c.720T= (p.Tyr240=) c.675T= (p.Tyr225=) c.651T= (p.Tyr217=) | |
| 6 | g.18130686A>C | CA362832113 | TPMT | c.720T>G (p.Tyr240Ter) c.675T>G (p.Tyr225Ter) c.651T>G (p.Tyr217Ter) | |
| 6 | g.18130686A>G | CA448764664 | TPMT | c.720T>C (p.Tyr240=) c.675T>C (p.Tyr225=) c.651T>C (p.Tyr217=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130686A>T | CA362832111 | TPMT | c.720T>A (p.Tyr240Ter) c.675T>A (p.Tyr225Ter) c.651T>A (p.Tyr217Ter) | |
| 6 | g.18130687T>A | CA362832116 | TPMT | c.719A>T (p.Tyr240Phe) c.674A>T (p.Tyr225Phe) c.650A>T (p.Tyr217Phe) | dbSNP |
| 6 | g.18130687T>C | CA122646 | TPMT | c.719A>G (p.Tyr240Cys) c.674A>G (p.Tyr225Cys) c.650A>G (p.Tyr217Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.[18130687T>C;18138997C>T] | CA357862 | TPMT | c.[460G>A;719A>G] (p.[Ala154Thr;Tyr240Cys]) c.[460G>A;674A>G] (p.[Ala154Thr;Tyr225Cys]) c.[391G>A;650A>G] (p.[Ala131Thr;Tyr217Cys]) | ClinVar |
| 6 | g.18130687T>G | CA134961548 | TPMT | c.719A>C (p.Tyr240Ser) c.674A>C (p.Tyr225Ser) c.650A>C (p.Tyr217Ser) | dbSNP |
| 6 | g.18130687T= | CA1613545734 | TPMT | c.719A= (p.Tyr240=) c.674A= (p.Tyr225=) c.650A= (p.Tyr217=) | |
| 6 | g.18130688A= | CA1613545741 | TPMT | c.718T= (p.Tyr240=) c.673T= (p.Tyr225=) c.649T= (p.Tyr217=) | |
| 6 | g.18130688A>C | CA362832119 | TPMT | c.718T>G (p.Tyr240Asp) c.673T>G (p.Tyr225Asp) c.649T>G (p.Tyr217Asp) | |
| 6 | g.18130688A>G | CA362832121 | TPMT | c.718T>C (p.Tyr240His) c.673T>C (p.Tyr225His) c.649T>C (p.Tyr217His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130688A>T | CA362832123 | TPMT | c.718T>A (p.Tyr240Asn) c.673T>A (p.Tyr225Asn) c.649T>A (p.Tyr217Asn) | |
| 6 | g.18130689T>A | CA362832125 | TPMT | c.717A>T (p.Leu239Phe) c.672A>T (p.Leu224Phe) c.648A>T (p.Leu216Phe) | |
| 6 | g.18130689T>C | CA448764665 | TPMT | c.717A>G (p.Leu239=) c.672A>G (p.Leu224=) c.648A>G (p.Leu216=) | dbSNP gnomAD v4 |
| 6 | g.18130689T>G | CA362832127 | TPMT | c.717A>C (p.Leu239Phe) c.672A>C (p.Leu224Phe) c.648A>C (p.Leu216Phe) | |
| 6 | g.18130690A>C | CA362832129 | TPMT | c.716T>G (p.Leu239Ter) c.671T>G (p.Leu224Ter) c.647T>G (p.Leu216Ter) | |
| 6 | g.18130690A>G | CA362832131 | TPMT | c.716T>C (p.Leu239Ser) c.671T>C (p.Leu224Ser) c.647T>C (p.Leu216Ser) | |
| 6 | g.18130690A>T | CA362832133 | TPMT | c.716T>A (p.Leu239Ter) c.671T>A (p.Leu224Ter) c.647T>A (p.Leu216Ter) | |
| 6 | g.18130691A>C | CA362832135 | TPMT | c.715T>G (p.Leu239Val) c.670T>G (p.Leu224Val) c.646T>G (p.Leu216Val) | |
| 6 | g.18130691A>G | CA448764666 | TPMT | c.715T>C (p.Leu239=) c.670T>C (p.Leu224=) c.646T>C (p.Leu216=) | |
| 6 | g.18130691A>T | CA362832137 | TPMT | c.715T>A (p.Leu239Ile) c.670T>A (p.Leu224Ile) c.646T>A (p.Leu216Ile) | |
| 6 | g.18130692C>A | CA362832142 | TPMT | c.714G>T (p.Lys238Asn) c.669G>T (p.Lys223Asn) c.645G>T (p.Lys215Asn) | |
| 6 | g.18130692C>G | CA362832139 | TPMT | c.714G>C (p.Lys238Asn) c.669G>C (p.Lys223Asn) c.645G>C (p.Lys215Asn) | |
| 6 | g.18130692C>T | CA448764667 | TPMT | c.714G>A (p.Lys238=) c.669G>A (p.Lys223=) c.645G>A (p.Lys215=) | |
| 6 | g.18130693T>A | CA362832143 | TPMT | c.713A>T (p.Lys238Met) c.668A>T (p.Lys223Met) c.644A>T (p.Lys215Met) | |
| 6 | g.18130693T>C | CA362832145 | TPMT | c.713A>G (p.Lys238Arg) c.668A>G (p.Lys223Arg) c.644A>G (p.Lys215Arg) | gnomAD v4 |
| 6 | g.18130693T>G | CA362832146 | TPMT | c.713A>C (p.Lys238Thr) c.668A>C (p.Lys223Thr) c.644A>C (p.Lys215Thr) | |
| 6 | g.18130696del | CA2578538781 | TPMT | c.713del (p.Lys238SerfsTer10) c.668del (p.Lys223SerfsTer10) c.644del (p.Lys215SerfsTer10) | gnomAD v4 |
| 6 | g.18130694T>A | CA362832148 | TPMT | c.712A>T (p.Lys238Ter) c.667A>T (p.Lys223Ter) c.643A>T (p.Lys215Ter) | |
| 6 | g.18130694T>C | CA3650081 | TPMT | c.712A>G (p.Lys238Glu) c.667A>G (p.Lys223Glu) c.643A>G (p.Lys215Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130694T>G | CA362832151 | TPMT | c.712A>C (p.Lys238Gln) c.667A>C (p.Lys223Gln) c.643A>C (p.Lys215Gln) | |
| 6 | g.18130694T= | CA1613545744 | TPMT | c.712A= (p.Lys238=) c.667A= (p.Lys223=) c.643A= (p.Lys215=) | |
| 6 | g.18130695T>A | CA362832153 | TPMT | c.711A>T (p.Glu237Asp) c.666A>T (p.Glu222Asp) c.642A>T (p.Glu214Asp) | |
| 6 | g.18130695T>C | CA448764668 | TPMT | c.711A>G (p.Glu237=) c.666A>G (p.Glu222=) c.642A>G (p.Glu214=) | |
| 6 | g.18130695T>G | CA362832155 | TPMT | c.711A>C (p.Glu237Asp) c.666A>C (p.Glu222Asp) c.642A>C (p.Glu214Asp) | |
| 6 | g.18130696T>A | CA362832158 | TPMT | c.710A>T (p.Glu237Val) c.665A>T (p.Glu222Val) c.641A>T (p.Glu214Val) | |
| 6 | g.18130696T>C | CA362832160 | TPMT | c.710A>G (p.Glu237Gly) c.665A>G (p.Glu222Gly) c.641A>G (p.Glu214Gly) | |
| 6 | g.18130696T>G | CA362832162 | TPMT | c.710A>C (p.Glu237Ala) c.665A>C (p.Glu222Ala) c.641A>C (p.Glu214Ala) | |
| 6 | g.18130697C>A | CA362832164 | TPMT | c.709G>T (p.Glu237Ter) c.664G>T (p.Glu222Ter) c.640G>T (p.Glu214Ter) | |
| 6 | g.18130697C>G | CA362832166 | TPMT | c.709G>C (p.Glu237Gln) c.664G>C (p.Glu222Gln) c.640G>C (p.Glu214Gln) | |
| 6 | g.18130697C>T | CA362832167 | TPMT | c.709G>A (p.Glu237Lys) c.664G>A (p.Glu222Lys) c.640G>A (p.Glu214Lys) | |
| 6 | g.18130698A>C | CA362832170 | TPMT | c.708T>G (p.Phe236Leu) c.663T>G (p.Phe221Leu) c.639T>G (p.Phe213Leu) | |
| 6 | g.18130698A>G | CA448764669 | TPMT | c.708T>C (p.Phe236=) c.663T>C (p.Phe221=) c.639T>C (p.Phe213=) | |
| 6 | g.18130698A>T | CA362832172 | TPMT | c.708T>A (p.Phe236Leu) c.663T>A (p.Phe221Leu) c.639T>A (p.Phe213Leu) | gnomAD v4 |
| 6 | g.18130702del | CA645551455 | TPMT | c.708del (p.Phe236LeufsTer12) c.663del (p.Phe221LeufsTer12) c.639del (p.Phe213LeufsTer12) | COSMIC |
| 6 | g.18130699A>C | CA362832174 | TPMT | c.707T>G (p.Phe236Cys) c.662T>G (p.Phe221Cys) c.638T>G (p.Phe213Cys) | |
| 6 | g.18130699A>G | CA362832178 | TPMT | c.707T>C (p.Phe236Ser) c.662T>C (p.Phe221Ser) c.638T>C (p.Phe213Ser) | gnomAD v4 |
| 6 | g.18130699A>T | CA362832176 | TPMT | c.707T>A (p.Phe236Tyr) c.662T>A (p.Phe221Tyr) c.638T>A (p.Phe213Tyr) | |
| 6 | g.18130700_18130706del | CA448764670 | TPMT | c.701_707del (p.Cys234LeufsTer12) c.656_662del (p.Cys219LeufsTer12) c.632_638del (p.Cys211LeufsTer12) |