| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |