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.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) | |
| 6 | g.18130700A>C | CA362832180 | TPMT | c.706T>G (p.Phe236Val) c.661T>G (p.Phe221Val) c.637T>G (p.Phe213Val) | |
| 6 | g.18130700A>G | CA362832182 | TPMT | c.706T>C (p.Phe236Leu) c.661T>C (p.Phe221Leu) c.637T>C (p.Phe213Leu) | |
| 6 | g.18130700A>T | CA362832184 | TPMT | c.706T>A (p.Phe236Ile) c.661T>A (p.Phe221Ile) c.637T>A (p.Phe213Ile) | |
| 6 | g.18130701A= | CA1613545746 | TPMT | c.705T= (p.Leu235=) c.660T= (p.Leu220=) c.636T= (p.Leu212=) | |
| 6 | g.18130701A>C | CA448764671 | TPMT | c.705T>G (p.Leu235=) c.660T>G (p.Leu220=) c.636T>G (p.Leu212=) | |
| 6 | g.18130701A>G | CA448764672 | TPMT | c.705T>C (p.Leu235=) c.660T>C (p.Leu220=) c.636T>C (p.Leu212=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130701A>T | CA448764673 | TPMT | c.705T>A (p.Leu235=) c.660T>A (p.Leu220=) c.636T>A (p.Leu212=) | |
| 6 | g.18130702A= | CA1613545748 | TPMT | c.704T= (p.Leu235=) c.659T= (p.Leu220=) c.635T= (p.Leu212=) | |
| 6 | g.18130702A>C | CA362832186 | TPMT | c.704T>G (p.Leu235Arg) c.659T>G (p.Leu220Arg) c.635T>G (p.Leu212Arg) | |
| 6 | g.18130702A>G | CA3650082 | TPMT | c.704T>C (p.Leu235Pro) c.659T>C (p.Leu220Pro) c.635T>C (p.Leu212Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130702A>T | CA362832188 | TPMT | c.704T>A (p.Leu235His) c.659T>A (p.Leu220His) c.635T>A (p.Leu212His) | gnomAD v4 |
| 6 | g.18130703G>A | CA362832190 | TPMT | c.703C>T (p.Leu235Phe) c.658C>T (p.Leu220Phe) c.634C>T (p.Leu212Phe) | |
| 6 | g.18130703G>C | CA362832192 | TPMT | c.703C>G (p.Leu235Val) c.658C>G (p.Leu220Val) c.634C>G (p.Leu212Val) | |
| 6 | g.18130703G>T | CA362832194 | TPMT | c.703C>A (p.Leu235Ile) c.658C>A (p.Leu220Ile) c.634C>A (p.Leu212Ile) | gnomAD v4 |
| 6 | g.18130704A>C | CA362832196 | TPMT | c.702T>G (p.Cys234Trp) c.657T>G (p.Cys219Trp) c.633T>G (p.Cys211Trp) | |
| 6 | g.18130704A>G | CA448764674 | TPMT | c.702T>C (p.Cys234=) c.657T>C (p.Cys219=) c.633T>C (p.Cys211=) | |
| 6 | g.18130704A>T | CA362832197 | TPMT | c.702T>A (p.Cys234Ter) c.657T>A (p.Cys219Ter) c.633T>A (p.Cys211Ter) | |
| 6 | g.18130705C>A | CA362832205 | TPMT | c.701G>T (p.Cys234Phe) c.656G>T (p.Cys219Phe) c.632G>T (p.Cys211Phe) | gnomAD v4 |
| 6 | g.18130705C= | CA1613545753 | TPMT | c.701G= (p.Cys234=) c.656G= (p.Cys219=) c.632G= (p.Cys211=) | |
| 6 | g.18130705C>G | CA362832202 | TPMT | c.701G>C (p.Cys234Ser) c.656G>C (p.Cys219Ser) c.632G>C (p.Cys211Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130705C>T | CA362832201 | TPMT | c.701G>A (p.Cys234Tyr) c.656G>A (p.Cys219Tyr) c.632G>A (p.Cys211Tyr) | dbSNP gnomAD v4 COSMIC |
| 6 | g.18130706A>C | CA362832207 | TPMT | c.700T>G (p.Cys234Gly) c.655T>G (p.Cys219Gly) c.631T>G (p.Cys211Gly) | |
| 6 | g.18130706A>G | CA362832209 | TPMT | c.700T>C (p.Cys234Arg) c.655T>C (p.Cys219Arg) c.631T>C (p.Cys211Arg) | |
| 6 | g.18130706A>T | CA362832211 | TPMT | c.700T>A (p.Cys234Ser) c.655T>A (p.Cys219Ser) c.631T>A (p.Cys211Ser) | |
| 6 | g.18130707G>A | CA448764675 | TPMT | c.699C>T (p.Asp233=) c.654C>T (p.Asp218=) c.630C>T (p.Asp210=) | gnomAD v4 |
| 6 | g.18130707G>C | CA3650083 | TPMT | c.699C>G (p.Asp233Glu) c.654C>G (p.Asp218Glu) c.630C>G (p.Asp210Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130707G= | CA1613545758 | TPMT | c.699C= (p.Asp233=) c.654C= (p.Asp218=) c.630C= (p.Asp210=) | |
| 6 | g.18130707G>T | CA362832214 | TPMT | c.699C>A (p.Asp233Glu) c.654C>A (p.Asp218Glu) c.630C>A (p.Asp210Glu) | |
| 6 | g.18130708T>A | CA362832216 | TPMT | c.698A>T (p.Asp233Val) c.653A>T (p.Asp218Val) c.629A>T (p.Asp210Val) | |
| 6 | g.18130708T>C | CA362832217 | TPMT | c.698A>G (p.Asp233Gly) c.653A>G (p.Asp218Gly) c.629A>G (p.Asp210Gly) | |
| 6 | g.18130708T>G | CA362832220 | TPMT | c.698A>C (p.Asp233Ala) c.653A>C (p.Asp218Ala) c.629A>C (p.Asp210Ala) | |
| 6 | g.18130709C>A | CA362832222 | TPMT | c.697G>T (p.Asp233Tyr) c.652G>T (p.Asp218Tyr) c.628G>T (p.Asp210Tyr) | gnomAD v4 |
| 6 | g.18130709C= | CA1613545761 | TPMT | c.697G= (p.Asp233=) c.652G= (p.Asp218=) c.628G= (p.Asp210=) | |
| 6 | g.18130709C>G | CA3650084 | TPMT | c.697G>C (p.Asp233His) c.652G>C (p.Asp218His) c.628G>C (p.Asp210His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130709C>T | CA362832223 | TPMT | c.697G>A (p.Asp233Asn) c.652G>A (p.Asp218Asn) c.628G>A (p.Asp210Asn) | dbSNP gnomAD v4 |
| 6 | g.18130710A>C | CA362832224 | TPMT | c.696T>G (p.Ile232Met) c.651T>G (p.Ile217Met) c.627T>G (p.Ile209Met) | |
| 6 | g.18130710A>G | CA448764676 | TPMT | c.696T>C (p.Ile232=) c.651T>C (p.Ile217=) c.627T>C (p.Ile209=) | |
| 6 | g.18130710A>T | CA448764677 | TPMT | c.696T>A (p.Ile232=) c.651T>A (p.Ile217=) c.627T>A (p.Ile209=) | |
| 6 | g.18130711A>C | CA362832231 | TPMT | c.695T>G (p.Ile232Ser) c.650T>G (p.Ile217Ser) c.626T>G (p.Ile209Ser) | |
| 6 | g.18130711A>G | CA362832230 | TPMT | c.695T>C (p.Ile232Thr) c.650T>C (p.Ile217Thr) c.626T>C (p.Ile209Thr) | |
| 6 | g.18130711A>T | CA362832227 | TPMT | c.695T>A (p.Ile232Asn) c.650T>A (p.Ile217Asn) c.626T>A (p.Ile209Asn) | |
| 6 | g.18130712T>A | CA362832232 | TPMT | c.694A>T (p.Ile232Phe) c.649A>T (p.Ile217Phe) c.625A>T (p.Ile209Phe) | |
| 6 | g.18130712T>C | CA362832233 | TPMT | c.694A>G (p.Ile232Val) c.649A>G (p.Ile217Val) c.625A>G (p.Ile209Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130712T>G | CA362832234 | TPMT | c.694A>C (p.Ile232Leu) c.649A>C (p.Ile217Leu) c.625A>C (p.Ile209Leu) | gnomAD v4 |
| 6 | g.18130712T= | CA1613545764 | TPMT | c.694A= (p.Ile232=) c.649A= (p.Ile217=) c.625A= (p.Ile209=) | |
| 6 | g.18130713T>A | CA448764680 | TPMT | c.693A>T (p.Gly231=) c.648A>T (p.Gly216=) c.624A>T (p.Gly208=) | |
| 6 | g.18130713T>C | CA448764678 | TPMT | c.693A>G (p.Gly231=) c.648A>G (p.Gly216=) c.624A>G (p.Gly208=) | |
| 6 | g.18130713T>G | CA448764679 | TPMT | c.693A>C (p.Gly231=) c.648A>C (p.Gly216=) c.624A>C (p.Gly208=) | |
| 6 | g.18130714C>A | CA3650085 | TPMT | c.692G>T (p.Gly231Val) c.647G>T (p.Gly216Val) c.623G>T (p.Gly208Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130714C= | CA1613545766 | TPMT | c.692G= (p.Gly231=) c.647G= (p.Gly216=) c.623G= (p.Gly208=) | |
| 6 | g.18130714C>G | CA362832237 | TPMT | c.692G>C (p.Gly231Ala) c.647G>C (p.Gly216Ala) c.623G>C (p.Gly208Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130714C>T | CA362832238 | TPMT | c.692G>A (p.Gly231Glu) c.647G>A (p.Gly216Glu) c.623G>A (p.Gly208Glu) | |
| 6 | g.18130715C>A | CA362832241 | TPMT | c.691G>T (p.Gly231Ter) c.646G>T (p.Gly216Ter) c.622G>T (p.Gly208Ter) | |
| 6 | g.18130715C>G | CA362832243 | TPMT | c.691G>C (p.Gly231Arg) c.646G>C (p.Gly216Arg) c.622G>C (p.Gly208Arg) | |
| 6 | g.18130715C>T | CA362832245 | TPMT | c.691G>A (p.Gly231Arg) c.646G>A (p.Gly216Arg) c.622G>A (p.Gly208Arg) | gnomAD v4 |
| 6 | g.18130716C>A | CA362832247 | TPMT | c.690G>T (p.Trp230Cys) c.645G>T (p.Trp215Cys) c.621G>T (p.Trp207Cys) | |
| 6 | g.18130716C>G | CA362832249 | TPMT | c.690G>C (p.Trp230Cys) c.645G>C (p.Trp215Cys) c.621G>C (p.Trp207Cys) | ClinVar gnomAD v4 |
| 6 | g.18130716C>T | CA362832251 | TPMT | c.690G>A (p.Trp230Ter) c.645G>A (p.Trp215Ter) c.621G>A (p.Trp207Ter) | |
| 6 | g.18130717C>A | CA362832257 | TPMT | c.689G>T (p.Trp230Leu) c.644G>T (p.Trp215Leu) c.620G>T (p.Trp207Leu) | |
| 6 | g.18130717C>G | CA362832260 | TPMT | c.689G>C (p.Trp230Ser) c.644G>C (p.Trp215Ser) c.620G>C (p.Trp207Ser) | |
| 6 | g.18130717C>T | CA362832254 | TPMT | c.689G>A (p.Trp230Ter) c.644G>A (p.Trp215Ter) c.620G>A (p.Trp207Ter) | |
| 6 | g.18130718A>C | CA362832262 | TPMT | c.688T>G (p.Trp230Gly) c.643T>G (p.Trp215Gly) c.619T>G (p.Trp207Gly) | |
| 6 | g.18130718A>G | CA362832265 | TPMT | c.688T>C (p.Trp230Arg) c.643T>C (p.Trp215Arg) c.619T>C (p.Trp207Arg) | |
| 6 | g.18130718A>T | CA362832269 | TPMT | c.688T>A (p.Trp230Arg) c.643T>A (p.Trp215Arg) c.619T>A (p.Trp207Arg) | |
| 6 | g.18130719A>C | CA362832272 | TPMT | c.687T>G (p.Ser229Arg) c.642T>G (p.Ser214Arg) c.618T>G (p.Ser206Arg) | |
| 6 | g.18130719A>G | CA448764683 | TPMT | c.687T>C (p.Ser229=) c.642T>C (p.Ser214=) c.618T>C (p.Ser206=) | |
| 6 | g.18130719A>T | CA362832273 | TPMT | c.687T>A (p.Ser229Arg) c.642T>A (p.Ser214Arg) c.618T>A (p.Ser206Arg) | |
| 6 | g.18130720C>A | CA362832287 | TPMT | c.686G>T (p.Ser229Ile) c.641G>T (p.Ser214Ile) c.617G>T (p.Ser206Ile) | |
| 6 | g.18130720C>G | CA362832277 | TPMT | c.686G>C (p.Ser229Thr) c.641G>C (p.Ser214Thr) c.617G>C (p.Ser206Thr) | |
| 6 | g.18130720C>T | CA362832281 | TPMT | c.686G>A (p.Ser229Asn) c.641G>A (p.Ser214Asn) c.617G>A (p.Ser206Asn) | |
| 6 | g.18130721T>A | CA362832291 | TPMT | c.685A>T (p.Ser229Cys) c.640A>T (p.Ser214Cys) c.616A>T (p.Ser206Cys) | |
| 6 | g.18130721T>C | CA362832293 | TPMT | c.685A>G (p.Ser229Gly) c.640A>G (p.Ser214Gly) c.616A>G (p.Ser206Gly) | |
| 6 | g.18130721T>G | CA362832295 | TPMT | c.685A>C (p.Ser229Arg) c.640A>C (p.Ser214Arg) c.616A>C (p.Ser206Arg) | |
| 6 | g.18130722T>A | CA362832300 | TPMT | c.684A>T (p.Lys228Asn) c.639A>T (p.Lys213Asn) c.615A>T (p.Lys205Asn) | gnomAD v4 |
| 6 | g.18130722T>C | CA448764684 | TPMT | c.684A>G (p.Lys228=) c.639A>G (p.Lys213=) c.615A>G (p.Lys205=) | |
| 6 | g.18130722T>G | CA362832303 | TPMT | c.684A>C (p.Lys228Asn) c.639A>C (p.Lys213Asn) c.615A>C (p.Lys205Asn) | |
| 6 | g.18130723T>A | CA362832306 | TPMT | c.683A>T (p.Lys228Ile) c.638A>T (p.Lys213Ile) c.614A>T (p.Lys205Ile) | |
| 6 | g.18130723T>C | CA362832312 | TPMT | c.683A>G (p.Lys228Arg) c.638A>G (p.Lys213Arg) c.614A>G (p.Lys205Arg) | |
| 6 | g.18130723T>G | CA362832309 | TPMT | c.683A>C (p.Lys228Thr) c.638A>C (p.Lys213Thr) c.614A>C (p.Lys205Thr) | |
| 6 | g.18130724T>A | CA362832316 | TPMT | c.682A>T (p.Lys228Ter) c.637A>T (p.Lys213Ter) c.613A>T (p.Lys205Ter) | dbSNP gnomAD v4 |
| 6 | g.18130724T>C | CA362832322 | TPMT | c.682A>G (p.Lys228Glu) c.637A>G (p.Lys213Glu) c.613A>G (p.Lys205Glu) | |
| 6 | g.18130724T>G | CA362832319 | TPMT | c.682A>C (p.Lys228Gln) c.637A>C (p.Lys213Gln) c.613A>C (p.Lys205Gln) | |
| 6 | g.18130724T= | CA1613545770 | TPMT | c.682A= (p.Lys228=) c.637A= (p.Lys213=) c.613A= (p.Lys205=) | |
| 6 | g.18130725A= | CA1613545778 | TPMT | c.681T= (p.His227=) c.636T= (p.His212=) c.612T= (p.His204=) | |
| 6 | g.18130725A>C | CA134961554 | TPMT | c.681T>G (p.His227Gln) c.636T>G (p.His212Gln) c.612T>G (p.His204Gln) | dbSNP |
| 6 | g.18130725A>G | CA448764688 | TPMT | c.681T>C (p.His227=) c.636T>C (p.His212=) c.612T>C (p.His204=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130725A>T | CA3650086 | TPMT | c.681T>A (p.His227Gln) c.636T>A (p.His212Gln) c.612T>A (p.His204Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130726T>A | CA362832327 | TPMT | c.680A>T (p.His227Leu) c.635A>T (p.His212Leu) c.611A>T (p.His204Leu) | |
| 6 | g.18130726T>C | CA362832330 | TPMT | c.680A>G (p.His227Arg) c.635A>G (p.His212Arg) c.611A>G (p.His204Arg) | |
| 6 | g.18130726T>G | CA3650087 | TPMT | c.680A>C (p.His227Pro) c.635A>C (p.His212Pro) c.611A>C (p.His204Pro) | dbSNP ExAC gnomAD v2 |
| 6 | g.18130726T= | CA1613545782 | TPMT | c.680A= (p.His227=) c.635A= (p.His212=) c.611A= (p.His204=) | |
| 6 | g.18130727G>A | CA362832342 | TPMT | c.679C>T (p.His227Tyr) c.634C>T (p.His212Tyr) c.610C>T (p.His204Tyr) | dbSNP |
| 6 | g.18130727G>C | CA362832344 | TPMT | c.679C>G (p.His227Asp) c.634C>G (p.His212Asp) c.610C>G (p.His204Asp) | |
| 6 | g.18130727G= | CA1613545786 | TPMT | c.679C= (p.His227=) c.634C= (p.His212=) c.610C= (p.His204=) | |
| 6 | g.18130727G>T | CA362832345 | TPMT | c.679C>A (p.His227Asn) c.634C>A (p.His212Asn) c.610C>A (p.His204Asn) | |
| 6 | g.18130728T>A | CA448764691 | TPMT | c.678A>T (p.Arg226=) c.633A>T (p.Arg211=) c.609A>T (p.Arg203=) | |
| 6 | g.18130728T>C | CA448764692 | TPMT | c.678A>G (p.Arg226=) c.633A>G (p.Arg211=) c.609A>G (p.Arg203=) | |
| 6 | g.18130728T>G | CA448764693 | TPMT | c.678A>C (p.Arg226=) c.633A>C (p.Arg211=) c.609A>C (p.Arg203=) | |
| 6 | g.18130729C>A | CA362832347 | TPMT | c.677G>T (p.Arg226Leu) c.632G>T (p.Arg211Leu) c.608G>T (p.Arg203Leu) | |
| 6 | g.18130729C= | CA1613545791 | TPMT | c.677G= (p.Arg226=) c.632G= (p.Arg211=) c.608G= (p.Arg203=) | |
| 6 | g.18130729C>G | CA362832349 | TPMT | c.677G>C (p.Arg226Pro) c.632G>C (p.Arg211Pro) c.608G>C (p.Arg203Pro) | |
| 6 | g.18130729C>T | CA3650088 | TPMT | c.677G>A (p.Arg226Gln) c.632G>A (p.Arg211Gln) c.608G>A (p.Arg203Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130730G>A | CA3650089 | TPMT | c.676C>T (p.Arg226Ter) c.631C>T (p.Arg211Ter) c.607C>T (p.Arg203Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130730G>C | CA362832353 | TPMT | c.676C>G (p.Arg226Gly) c.631C>G (p.Arg211Gly) c.607C>G (p.Arg203Gly) | |
| 6 | g.18130730G= | CA1613545793 | TPMT | c.676C= (p.Arg226=) c.631C= (p.Arg211=) c.607C= (p.Arg203=) | |
| 6 | g.18130730G>T | CA448764695 | TPMT | c.676C>A (p.Arg226=) c.631C>A (p.Arg211=) c.607C>A (p.Arg203=) | |
| 6 | g.18130731T>A | CA362832357 | TPMT | c.675A>T (p.Glu225Asp) c.630A>T (p.Glu210Asp) c.606A>T (p.Glu202Asp) | |
| 6 | g.18130731T>C | CA448764697 | TPMT | c.675A>G (p.Glu225=) c.630A>G (p.Glu210=) c.606A>G (p.Glu202=) | dbSNP |
| 6 | g.18130731T>G | CA362832367 | TPMT | c.675A>C (p.Glu225Asp) c.630A>C (p.Glu210Asp) c.606A>C (p.Glu202Asp) | |
| 6 | g.18130732T>A | CA362832370 | TPMT | c.674A>T (p.Glu225Val) c.629A>T (p.Glu210Val) c.605A>T (p.Glu202Val) | |
| 6 | g.18130732T>C | CA362832377 | TPMT | c.674A>G (p.Glu225Gly) c.629A>G (p.Glu210Gly) c.605A>G (p.Glu202Gly) | |
| 6 | g.18130732T>G | CA362832372 | TPMT | c.674A>C (p.Glu225Ala) c.629A>C (p.Glu210Ala) c.605A>C (p.Glu202Ala) | |
| 6 | g.18130733C>A | CA362832381 | TPMT | c.673G>T (p.Glu225Ter) c.628G>T (p.Glu210Ter) c.604G>T (p.Glu202Ter) | |
| 6 | g.18130733C= | CA1613545795 | TPMT | c.673G= (p.Glu225=) c.628G= (p.Glu210=) c.604G= (p.Glu202=) | |
| 6 | g.18130733C>G | CA362832383 | TPMT | c.673G>C (p.Glu225Gln) c.628G>C (p.Glu210Gln) c.604G>C (p.Glu202Gln) | |
| 6 | g.18130733C>T | CA362832384 | TPMT | c.673G>A (p.Glu225Lys) c.628G>A (p.Glu210Lys) c.604G>A (p.Glu202Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130734T>A | CA362832386 | TPMT | c.672A>T (p.Glu224Asp) c.627A>T (p.Glu209Asp) c.603A>T (p.Glu201Asp) | |
| 6 | g.18130734T>C | CA448764701 | TPMT | c.672A>G (p.Glu224=) c.627A>G (p.Glu209=) c.603A>G (p.Glu201=) | |
| 6 | g.18130734T>G | CA362832389 | TPMT | c.672A>C (p.Glu224Asp) c.627A>C (p.Glu209Asp) c.603A>C (p.Glu201Asp) | |
| 6 | g.18130735T>A | CA362832392 | TPMT | c.671A>T (p.Glu224Val) c.626A>T (p.Glu209Val) c.602A>T (p.Glu201Val) | |
| 6 | g.18130735T>C | CA362832397 | TPMT | c.671A>G (p.Glu224Gly) c.626A>G (p.Glu209Gly) c.602A>G (p.Glu201Gly) | |
| 6 | g.18130735T>G | CA362832398 | TPMT | c.671A>C (p.Glu224Ala) c.626A>C (p.Glu209Ala) c.602A>C (p.Glu201Ala) | |
| 6 | g.18130736C>A | CA362832399 | TPMT | c.670G>T (p.Glu224Ter) c.625G>T (p.Glu209Ter) c.601G>T (p.Glu201Ter) | |
| 6 | g.18130736C>G | CA362832400 | TPMT | c.670G>C (p.Glu224Gln) c.625G>C (p.Glu209Gln) c.601G>C (p.Glu201Gln) | |
| 6 | g.18130736C>T | CA362832401 | TPMT | c.670G>A (p.Glu224Lys) c.625G>A (p.Glu209Lys) c.601G>A (p.Glu201Lys) | |
| 6 | g.18130736_18130737delinsCA | CA1613545798 | TPMT | c.669_670delinsTG (p.Phe223=) c.624_625delinsTG (p.Phe208=) c.600_601delinsTG (p.Phe200=) | |
| 6 | g.18130737A>C | CA362832409 | TPMT | c.669T>G (p.Phe223Leu) c.624T>G (p.Phe208Leu) c.600T>G (p.Phe200Leu) | gnomAD v4 |
| 6 | g.18130737A>G | CA448764707 | TPMT | c.669T>C (p.Phe223=) c.624T>C (p.Phe208=) c.600T>C (p.Phe200=) | gnomAD v4 |
| 6 | g.18130737A>T | CA362832417 | TPMT | c.669T>A (p.Phe223Leu) c.624T>A (p.Phe208Leu) c.600T>A (p.Phe200Leu) | |
| 6 | g.18130740del | CA3650090 | TPMT | c.669del (p.Phe223LeufsTer25) c.624del (p.Phe208LeufsTer25) c.600del (p.Phe200LeufsTer25) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130738A>C | CA362832420 | TPMT | c.668T>G (p.Phe223Cys) c.623T>G (p.Phe208Cys) c.599T>G (p.Phe200Cys) | |
| 6 | g.18130738A>G | CA362832427 | TPMT | c.668T>C (p.Phe223Ser) c.623T>C (p.Phe208Ser) c.599T>C (p.Phe200Ser) | |
| 6 | g.18130738A>T | CA362832429 | TPMT | c.668T>A (p.Phe223Tyr) c.623T>A (p.Phe208Tyr) c.599T>A (p.Phe200Tyr) | |
| 6 | g.18130739A>C | CA362832430 | TPMT | c.667T>G (p.Phe223Val) c.622T>G (p.Phe208Val) c.598T>G (p.Phe200Val) | |
| 6 | g.18130739A>G | CA362832432 | TPMT | c.667T>C (p.Phe223Leu) c.622T>C (p.Phe208Leu) c.598T>C (p.Phe200Leu) | |
| 6 | g.18130739A>T | CA362832434 | TPMT | c.667T>A (p.Phe223Ile) c.622T>A (p.Phe208Ile) c.598T>A (p.Phe200Ile) | |
| 6 | g.18130740A>C | CA448764714 | TPMT | c.666T>G (p.Ala222=) c.621T>G (p.Ala207=) c.597T>G (p.Ala199=) | |
| 6 | g.18130740A>G | CA448764712 | TPMT | c.666T>C (p.Ala222=) c.621T>C (p.Ala207=) c.597T>C (p.Ala199=) | |
| 6 | g.18130740A>T | CA448764713 | TPMT | c.666T>A (p.Ala222=) c.621T>A (p.Ala207=) c.597T>A (p.Ala199=) | |
| 6 | g.18130741G>A | CA362832436 | TPMT | c.665C>T (p.Ala222Val) c.620C>T (p.Ala207Val) c.596C>T (p.Ala199Val) | |
| 6 | g.18130741G>C | CA362832439 | TPMT | c.665C>G (p.Ala222Gly) c.620C>G (p.Ala207Gly) c.596C>G (p.Ala199Gly) | dbSNP gnomAD v4 |
| 6 | g.18130741G= | CA1613545805 | TPMT | c.665C= (p.Ala222=) c.620C= (p.Ala207=) c.596C= (p.Ala199=) | |
| 6 | g.18130741G>T | CA3650091 | TPMT | c.665C>A (p.Ala222Asp) c.620C>A (p.Ala207Asp) c.596C>A (p.Ala199Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130742C>A | CA362832442 | TPMT | c.664G>T (p.Ala222Ser) c.619G>T (p.Ala207Ser) c.595G>T (p.Ala199Ser) | |
| 6 | g.18130742C>G | CA362832444 | TPMT | c.664G>C (p.Ala222Pro) c.619G>C (p.Ala207Pro) c.595G>C (p.Ala199Pro) | |
| 6 | g.18130742C>T | CA362832446 | TPMT | c.664G>A (p.Ala222Thr) c.619G>A (p.Ala207Thr) c.595G>A (p.Ala199Thr) | |
| 6 | g.18130743A>C | CA362832448 | TPMT | c.663T>G (p.Asp221Glu) c.618T>G (p.Asp206Glu) c.594T>G (p.Asp198Glu) | |
| 6 | g.18130743A>G | CA448764716 | TPMT | c.663T>C (p.Asp221=) c.618T>C (p.Asp206=) c.594T>C (p.Asp198=) | |
| 6 | g.18130743A>T | CA362832447 | TPMT | c.663T>A (p.Asp221Glu) c.618T>A (p.Asp206Glu) c.594T>A (p.Asp198Glu) | |
| 6 | g.18130744T>A | CA362832452 | TPMT | c.662A>T (p.Asp221Val) c.617A>T (p.Asp206Val) c.593A>T (p.Asp198Val) | |
| 6 | g.18130744T>C | CA362832455 | TPMT | c.662A>G (p.Asp221Gly) c.617A>G (p.Asp206Gly) c.593A>G (p.Asp198Gly) | |
| 6 | g.18130744T>G | CA362832457 | TPMT | c.662A>C (p.Asp221Ala) c.617A>C (p.Asp206Ala) c.593A>C (p.Asp198Ala) | |
| 6 | g.18130745C>A | CA362832460 | TPMT | c.661G>T (p.Asp221Tyr) c.616G>T (p.Asp206Tyr) c.592G>T (p.Asp198Tyr) | |
| 6 | g.18130745C>G | CA362832462 | TPMT | c.661G>C (p.Asp221His) c.616G>C (p.Asp206His) c.592G>C (p.Asp198His) | gnomAD v4 |
| 6 | g.18130745C>T | CA362832466 | TPMT | c.661G>A (p.Asp221Asn) c.616G>A (p.Asp206Asn) c.592G>A (p.Asp198Asn) | |
| 6 | g.18130746A>C | CA448764720 | TPMT | c.660T>G (p.Val220=) c.615T>G (p.Val205=) c.591T>G (p.Val197=) | |
| 6 | g.18130746A>G | CA448764721 | TPMT | c.660T>C (p.Val220=) c.615T>C (p.Val205=) c.591T>C (p.Val197=) | |
| 6 | g.18130746A>T | CA448764722 | TPMT | c.660T>A (p.Val220=) c.615T>A (p.Val205=) c.591T>A (p.Val197=) | |
| 6 | g.18130747A= | CA1613545809 | TPMT | c.659T= (p.Val220=) c.614T= (p.Val205=) c.590T= (p.Val197=) | |
| 6 | g.18130747A>C | CA362832471 | TPMT | c.659T>G (p.Val220Gly) c.614T>G (p.Val205Gly) c.590T>G (p.Val197Gly) | |
| 6 | g.18130747A>G | CA362832473 | TPMT | c.659T>C (p.Val220Ala) c.614T>C (p.Val205Ala) c.590T>C (p.Val197Ala) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.18130747A>T | CA362832475 | TPMT | c.659T>A (p.Val220Asp) c.614T>A (p.Val205Asp) c.590T>A (p.Val197Asp) | |
| 6 | g.18130748C>A | CA3650092 | TPMT | c.658G>T (p.Val220Phe) c.613G>T (p.Val205Phe) c.589G>T (p.Val197Phe) | dbSNP ExAC gnomAD v4 |
| 6 | g.18130748C= | CA1613545811 | TPMT | c.658G= (p.Val220=) c.613G= (p.Val205=) c.589G= (p.Val197=) | |
| 6 | g.18130748C>G | CA362832481 | TPMT | c.658G>C (p.Val220Leu) c.613G>C (p.Val205Leu) c.589G>C (p.Val197Leu) | |
| 6 | g.18130748C>T | CA362832483 | TPMT | c.658G>A (p.Val220Ile) c.613G>A (p.Val205Ile) c.589G>A (p.Val197Ile) | |
| 6 | g.18130749C>A | CA362832488 | TPMT | c.657G>T (p.Lys219Asn) c.612G>T (p.Lys204Asn) c.588G>T (p.Lys196Asn) | |
| 6 | g.18130749C= | CA1613545816 | TPMT | c.657G= (p.Lys219=) c.612G= (p.Lys204=) c.588G= (p.Lys196=) | |
| 6 | g.18130749C>G | CA362832491 | TPMT | c.657G>C (p.Lys219Asn) c.612G>C (p.Lys204Asn) c.588G>C (p.Lys196Asn) | |
| 6 | g.18130749C>T | CA448764727 | TPMT | c.657G>A (p.Lys219=) c.612G>A (p.Lys204=) c.588G>A (p.Lys196=) | dbSNP gnomAD v4 |
| 6 | g.18130750T>A | CA362832492 | TPMT | c.656A>T (p.Lys219Met) c.611A>T (p.Lys204Met) c.587A>T (p.Lys196Met) | |
| 6 | g.18130750T>C | CA362832495 | TPMT | c.656A>G (p.Lys219Arg) c.611A>G (p.Lys204Arg) c.587A>G (p.Lys196Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.18130750T>G | CA362832494 | TPMT | c.656A>C (p.Lys219Thr) c.611A>C (p.Lys204Thr) c.587A>C (p.Lys196Thr) | gnomAD v4 |
| 6 | g.18130750T= | CA1613545819 | TPMT | c.656A= (p.Lys219=) c.611A= (p.Lys204=) c.587A= (p.Lys196=) | |
| 6 | g.18130751T>A | CA362832497 | TPMT | c.655A>T (p.Lys219Ter) c.610A>T (p.Lys204Ter) c.586A>T (p.Lys196Ter) | |
| 6 | g.18130751T>C | CA362832498 | TPMT | c.655A>G (p.Lys219Glu) c.610A>G (p.Lys204Glu) c.586A>G (p.Lys196Glu) | |
| 6 | g.18130751T>G | CA362832501 | TPMT | c.655A>C (p.Lys219Gln) c.610A>C (p.Lys204Gln) c.586A>C (p.Lys196Gln) | |
| 6 | g.18130752C>A | CA362832506 | TPMT | c.654G>T (p.Glu218Asp) c.609G>T (p.Glu203Asp) c.585G>T (p.Glu195Asp) | |
| 6 | g.18130752C>G | CA362832508 | TPMT | c.654G>C (p.Glu218Asp) c.609G>C (p.Glu203Asp) c.585G>C (p.Glu195Asp) | |
| 6 | g.18130752C>T | CA448764729 | TPMT | c.654G>A (p.Glu218=) c.609G>A (p.Glu203=) c.585G>A (p.Glu195=) | |
| 6 | g.18130753T>A | CA362832510 | TPMT | c.653A>T (p.Glu218Val) c.608A>T (p.Glu203Val) c.584A>T (p.Glu195Val) | |
| 6 | g.18130753T>C | CA362832512 | TPMT | c.653A>G (p.Glu218Gly) c.608A>G (p.Glu203Gly) c.584A>G (p.Glu195Gly) | |
| 6 | g.18130753T>G | CA362832514 | TPMT | c.653A>C (p.Glu218Ala) c.608A>C (p.Glu203Ala) c.584A>C (p.Glu195Ala) | |
| 6 | g.18130754C>A | CA362832517 | TPMT | c.652G>T (p.Glu218Ter) c.607G>T (p.Glu203Ter) c.583G>T (p.Glu195Ter) | gnomAD v4 |
| 6 | g.18130754C>G | CA362832529 | TPMT | c.652G>C (p.Glu218Gln) c.607G>C (p.Glu203Gln) c.583G>C (p.Glu195Gln) | |
| 6 | g.18130754C>T | CA362832533 | TPMT | c.652G>A (p.Glu218Lys) c.607G>A (p.Glu203Lys) c.583G>A (p.Glu195Lys) | |
| 6 | g.18130755A>C | CA448764736 | TPMT | c.651T>G (p.Leu217=) c.606T>G (p.Leu202=) c.582T>G (p.Leu194=) | |
| 6 | g.18130755A>G | CA448764733 | TPMT | c.651T>C (p.Leu217=) c.606T>C (p.Leu202=) c.582T>C (p.Leu194=) | |
| 6 | g.18130755A>T | CA448764734 | TPMT | c.651T>A (p.Leu217=) c.606T>A (p.Leu202=) c.582T>A (p.Leu194=) | |
| 6 | g.18130756A>C | CA362832537 | TPMT | c.650T>G (p.Leu217Arg) c.605T>G (p.Leu202Arg) c.581T>G (p.Leu194Arg) | |
| 6 | g.18130756A>G | CA362832536 | TPMT | c.650T>C (p.Leu217Pro) c.605T>C (p.Leu202Pro) c.581T>C (p.Leu194Pro) | |
| 6 | g.18130756A>T | CA362832535 | TPMT | c.650T>A (p.Leu217His) c.605T>A (p.Leu202His) c.581T>A (p.Leu194His) | |
| 6 | g.18130757G>A | CA362832538 | TPMT | c.649C>T (p.Leu217Phe) c.604C>T (p.Leu202Phe) c.580C>T (p.Leu194Phe) | |
| 6 | g.18130757G>C | CA362832540 | TPMT | c.649C>G (p.Leu217Val) c.604C>G (p.Leu202Val) c.580C>G (p.Leu194Val) | |
| 6 | g.18130757G>T | CA362832543 | TPMT | c.649C>A (p.Leu217Ile) c.604C>A (p.Leu202Ile) c.580C>A (p.Leu194Ile) |