| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.18130761_18130772del | CA2677457494 | TPMT | c.636_647del (p.Asn213_Cys216del) c.591_602del (p.Asn198_Cys201del) c.567_578del (p.Asn190_Cys193del) | gnomAD v4 |
| 6 | g.18130762C>A | CA362832615 | TPMT | c.644G>T (p.Arg215Leu) c.599G>T (p.Arg200Leu) c.575G>T (p.Arg192Leu) | |
| 6 | g.18130762C= | CA1613545842 | TPMT | c.644G= (p.Arg215=) c.599G= (p.Arg200=) c.575G= (p.Arg192=) | |
| 6 | g.18130762C>G | CA362832609 | TPMT | c.644G>C (p.Arg215Pro) c.599G>C (p.Arg200Pro) c.575G>C (p.Arg192Pro) | |
| 6 | g.18130762C>T | CA122647 | TPMT | c.644G>A (p.Arg215His) c.599G>A (p.Arg200His) c.575G>A (p.Arg192His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130763G>A | CA3650095 | TPMT | c.643C>T (p.Arg215Cys) c.598C>T (p.Arg200Cys) c.574C>T (p.Arg192Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.18130763G>C | CA362832638 | TPMT | c.643C>G (p.Arg215Gly) c.598C>G (p.Arg200Gly) c.574C>G (p.Arg192Gly) | |
| 6 | g.18130763G= | CA1613545848 | TPMT | c.643C= (p.Arg215=) c.598C= (p.Arg200=) c.574C= (p.Arg192=) | |
| 6 | g.18130763G>T | CA362832640 | TPMT | c.643C>A (p.Arg215Ser) c.598C>A (p.Arg200Ser) c.574C>A (p.Arg192Ser) | COSMIC |
| 6 | g.18130764T>A | CA448764747 | TPMT | c.642A>T (p.Ile214=) c.597A>T (p.Ile199=) c.573A>T (p.Ile191=) | |
| 6 | g.18130764T>C | CA362832647 | TPMT | c.642A>G (p.Ile214Met) c.597A>G (p.Ile199Met) c.573A>G (p.Ile191Met) | |
| 6 | g.18130764T>G | CA448764746 | TPMT | c.642A>C (p.Ile214=) c.597A>C (p.Ile199=) c.573A>C (p.Ile191=) | |
| 6 | g.18130765A>C | CA362832652 | TPMT | c.641T>G (p.Ile214Arg) c.596T>G (p.Ile199Arg) c.572T>G (p.Ile191Arg) | |
| 6 | g.18130765A>G | CA362832667 | TPMT | c.641T>C (p.Ile214Thr) c.596T>C (p.Ile199Thr) c.572T>C (p.Ile191Thr) | gnomAD v4 |
| 6 | g.18130765A>T | CA362832677 | TPMT | c.641T>A (p.Ile214Lys) c.596T>A (p.Ile199Lys) c.572T>A (p.Ile191Lys) | |
| 6 | g.18130766T>A | CA362832683 | TPMT | c.640A>T (p.Ile214Leu) c.595A>T (p.Ile199Leu) c.571A>T (p.Ile191Leu) | |
| 6 | g.18130766T>C | CA362832688 | TPMT | c.640A>G (p.Ile214Val) c.595A>G (p.Ile199Val) c.571A>G (p.Ile191Val) | gnomAD v4 |
| 6 | g.18130766T>G | CA362832702 | TPMT | c.640A>C (p.Ile214Leu) c.595A>C (p.Ile199Leu) c.571A>C (p.Ile191Leu) | |
| 6 | g.18130767A= | CA1613545850 | TPMT | c.639T= (p.Asn213=) c.594T= (p.Asn198=) c.570T= (p.Asn190=) | |
| 6 | g.18130767A>C | CA362832706 | TPMT | c.639T>G (p.Asn213Lys) c.594T>G (p.Asn198Lys) c.570T>G (p.Asn190Lys) | |
| 6 | g.18130767A>G | CA3650096 | TPMT | c.639T>C (p.Asn213=) c.594T>C (p.Asn198=) c.570T>C (p.Asn190=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.18130767A>T | CA362832710 | TPMT | c.639T>A (p.Asn213Lys) c.594T>A (p.Asn198Lys) c.570T>A (p.Asn190Lys) | |
| 6 | g.18130768T>A | CA362832723 | TPMT | c.638A>T (p.Asn213Ile) c.593A>T (p.Asn198Ile) c.569A>T (p.Asn190Ile) | |
| 6 | g.18130768T>C | CA362832712 | TPMT | c.638A>G (p.Asn213Ser) c.593A>G (p.Asn198Ser) c.569A>G (p.Asn190Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.18130768T>G | CA362832717 | TPMT | c.638A>C (p.Asn213Thr) c.593A>C (p.Asn198Thr) c.569A>C (p.Asn190Thr) | |
| 6 | g.18130768T= | CA1613545855 | TPMT | c.638A= (p.Asn213=) c.593A= (p.Asn198=) c.569A= (p.Asn190=) | |
| 6 | g.18130769T>A | CA362832729 | TPMT | c.637A>T (p.Asn213Tyr) c.592A>T (p.Asn198Tyr) c.568A>T (p.Asn190Tyr) | |
| 6 | g.18130769T>C | CA362832733 | TPMT | c.637A>G (p.Asn213Asp) c.592A>G (p.Asn198Asp) c.568A>G (p.Asn190Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.18130769T>G | CA362832738 | TPMT | c.637A>C (p.Asn213His) c.592A>C (p.Asn198His) c.568A>C (p.Asn190His) | |
| 6 | g.18130769T= | CA1613545858 | TPMT | c.637A= (p.Asn213=) c.592A= (p.Asn198=) c.568A= (p.Asn190=) | |
| 6 | g.18130770G>A | CA448764756 | TPMT | c.636C>T (p.Cys212=) c.591C>T (p.Cys197=) c.567C>T (p.Cys189=) | |
| 6 | g.18130770G>C | CA362832751 | TPMT | c.636C>G (p.Cys212Trp) c.591C>G (p.Cys197Trp) c.567C>G (p.Cys189Trp) | |
| 6 | g.18130770G>T | CA362832754 | TPMT | c.636C>A (p.Cys212Ter) c.591C>A (p.Cys197Ter) c.567C>A (p.Cys189Ter) | |
| 6 | g.18130771C>A | CA362832763 | TPMT | c.635G>T (p.Cys212Phe) c.590G>T (p.Cys197Phe) c.566G>T (p.Cys189Phe) | |
| 6 | g.18130771C>G | CA362832773 | TPMT | c.635G>C (p.Cys212Ser) c.590G>C (p.Cys197Ser) c.566G>C (p.Cys189Ser) | |
| 6 | g.18130771C>T | CA362832775 | TPMT | c.635G>A (p.Cys212Tyr) c.590G>A (p.Cys197Tyr) c.566G>A (p.Cys189Tyr) | |
| 6 | g.18130772A= | CA1613545863 | TPMT | c.634T= (p.Cys212=) c.589T= (p.Cys197=) c.565T= (p.Cys189=) | |
| 6 | g.18130772A>C | CA362832779 | TPMT | c.634T>G (p.Cys212Gly) c.589T>G (p.Cys197Gly) c.565T>G (p.Cys189Gly) | |
| 6 | g.18130772A>G | CA134961564 | TPMT | c.634T>C (p.Cys212Arg) c.589T>C (p.Cys197Arg) c.565T>C (p.Cys189Arg) | dbSNP |
| 6 | g.18130772A>T | CA362832786 | TPMT | c.634T>A (p.Cys212Ser) c.589T>A (p.Cys197Ser) c.565T>A (p.Cys189Ser) | |
| 6 | g.18130773T>A | CA448764761 | TPMT | c.633A>T (p.Ile211=) c.588A>T (p.Ile196=) c.564A>T (p.Ile188=) | |
| 6 | g.18130773T>C | CA362832790 | TPMT | c.633A>G (p.Ile211Met) c.588A>G (p.Ile196Met) c.564A>G (p.Ile188Met) | |
| 6 | g.18130773T>G | CA448764762 | TPMT | c.633A>C (p.Ile211=) c.588A>C (p.Ile196=) c.564A>C (p.Ile188=) | |
| 6 | g.18130774A>C | CA362832795 | TPMT | c.632T>G (p.Ile211Arg) c.587T>G (p.Ile196Arg) c.563T>G (p.Ile188Arg) | |
| 6 | g.18130774A>G | CA362832799 | TPMT | c.632T>C (p.Ile211Thr) c.587T>C (p.Ile196Thr) c.563T>C (p.Ile188Thr) | |
| 6 | g.18130774A>T | CA362832792 | TPMT | c.632T>A (p.Ile211Lys) c.587T>A (p.Ile196Lys) c.563T>A (p.Ile188Lys) | |
| 6 | g.18130775T>A | CA362832808 | TPMT | c.631A>T (p.Ile211Leu) c.586A>T (p.Ile196Leu) c.562A>T (p.Ile188Leu) | |
| 6 | g.18130775T>C | CA362832806 | TPMT | c.631A>G (p.Ile211Val) c.586A>G (p.Ile196Val) c.562A>G (p.Ile188Val) | |
| 6 | g.18130775T>G | CA362832810 | TPMT | c.631A>C (p.Ile211Leu) c.586A>C (p.Ile196Leu) c.562A>C (p.Ile188Leu) | |
| 6 | g.18130778del | CA2677457496 | TPMT | c.631del (p.Ile211TyrfsTer?) c.586del (p.Ile196TyrfsTer?) c.562del (p.Ile188TyrfsTer?) | gnomAD v4 |