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