Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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) | |
6 | g.18130758A= | CA1613545827 | TPMT | c.648T= (p.Cys216=) c.603T= (p.Cys201=) c.579T= (p.Cys193=) | |
6 | g.18130758A>C | CA362832548 | TPMT | c.648T>G (p.Cys216Trp) c.603T>G (p.Cys201Trp) c.579T>G (p.Cys193Trp) | |
6 | g.18130758A>G | CA448764738 | TPMT | c.648T>C (p.Cys216=) c.603T>C (p.Cys201=) c.579T>C (p.Cys193=) | |
6 | g.18130758A>T | CA220129 | TPMT | c.648T>A (p.Cys216Ter) c.603T>A (p.Cys201Ter) c.579T>A (p.Cys193Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130759C>A | CA362832557 | TPMT | c.647G>T (p.Cys216Phe) c.602G>T (p.Cys201Phe) c.578G>T (p.Cys193Phe) | gnomAD v4 COSMIC |
6 | g.18130759C= | CA1613545833 | TPMT | c.647G= (p.Cys216=) c.602G= (p.Cys201=) c.578G= (p.Cys193=) | |
6 | g.18130759C>G | CA362832564 | TPMT | c.647G>C (p.Cys216Ser) c.602G>C (p.Cys201Ser) c.578G>C (p.Cys193Ser) | |
6 | g.18130759C>T | CA3650093 | TPMT | c.647G>A (p.Cys216Tyr) c.602G>A (p.Cys201Tyr) c.578G>A (p.Cys193Tyr) | dbSNP ExAC gnomAD v4 |
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.18130760A= | CA1613545836 | TPMT | c.646T= (p.Cys216=) c.601T= (p.Cys201=) c.577T= (p.Cys193=) | |
6 | g.18130760A>C | CA362832578 | TPMT | c.646T>G (p.Cys216Gly) c.601T>G (p.Cys201Gly) c.577T>G (p.Cys193Gly) | |
6 | g.18130760A>G | CA3650094 | TPMT | c.646T>C (p.Cys216Arg) c.601T>C (p.Cys201Arg) c.577T>C (p.Cys193Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18130760A>T | CA362832604 | TPMT | c.646T>A (p.Cys216Ser) c.601T>A (p.Cys201Ser) c.577T>A (p.Cys193Ser) | |
6 | g.18130761A>C | CA448764741 | TPMT | c.645T>G (p.Arg215=) c.600T>G (p.Arg200=) c.576T>G (p.Arg192=) | |
6 | g.18130761A>G | CA448764742 | TPMT | c.645T>C (p.Arg215=) c.600T>C (p.Arg200=) c.576T>C (p.Arg192=) | |
6 | g.18130761A>T | CA448764743 | TPMT | c.645T>A (p.Arg215=) c.600T>A (p.Arg200=) c.576T>A (p.Arg192=) | |
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 |
6 | g.18130776T>A | CA362832813 | TPMT | c.630A>T (p.Lys210Asn) c.585A>T (p.Lys195Asn) c.561A>T (p.Lys187Asn) | |
6 | g.18130776T>C | CA448764765 | TPMT | c.630A>G (p.Lys210=) c.585A>G (p.Lys195=) c.561A>G (p.Lys187=) | |
6 | g.18130776T>G | CA362832815 | TPMT | c.630A>C (p.Lys210Asn) c.585A>C (p.Lys195Asn) c.561A>C (p.Lys187Asn) | |
6 | g.18130777T>A | CA362832818 | TPMT | c.629A>T (p.Lys210Ile) c.584A>T (p.Lys195Ile) c.560A>T (p.Lys187Ile) | |
6 | g.18130777T>C | CA362832822 | TPMT | c.629A>G (p.Lys210Arg) c.584A>G (p.Lys195Arg) c.560A>G (p.Lys187Arg) | |
6 | g.18130777T>G | CA362832826 | TPMT | c.629A>C (p.Lys210Thr) c.584A>C (p.Lys195Thr) c.560A>C (p.Lys187Thr) | |
6 | g.18130778T>A | CA362832830 | TPMT | c.628A>T (p.Lys210Ter) c.583A>T (p.Lys195Ter) c.559A>T (p.Lys187Ter) | |
6 | g.18130778T>C | CA362832835 | TPMT | c.628A>G (p.Lys210Glu) c.583A>G (p.Lys195Glu) c.559A>G (p.Lys187Glu) | |
6 | g.18130778T>G | CA362832837 | TPMT | c.628A>C (p.Lys210Gln) c.583A>C (p.Lys195Gln) c.559A>C (p.Lys187Gln) | |
6 | g.18130779A>C | CA448764767 | TPMT | c.627T>G (p.Gly209=) c.582T>G (p.Gly194=) c.558T>G (p.Gly186=) | |
6 | g.18130779A>G | CA448764768 | TPMT | c.627T>C (p.Gly209=) c.582T>C (p.Gly194=) c.558T>C (p.Gly186=) | |
6 | g.18130779A>T | CA448764769 | TPMT | c.627T>A (p.Gly209=) c.582T>A (p.Gly194=) c.558T>A (p.Gly186=) | |
6 | g.18130780C>A | CA362832843 | TPMT | c.626G>T (p.Gly209Val) c.581G>T (p.Gly194Val) c.557G>T (p.Gly186Val) | |
6 | g.18130780C>G | CA362832845 | TPMT | c.626G>C (p.Gly209Ala) c.581G>C (p.Gly194Ala) c.557G>C (p.Gly186Ala) | |
6 | g.18130780C>T | CA362832848 | TPMT | c.626G>A (p.Gly209Asp) c.581G>A (p.Gly194Asp) c.557G>A (p.Gly186Asp) | gnomAD v4 |
6 | g.18130781C>A | CA362832853 | TPMT | c.626-1G>T (n.626-1G>T) c.581-1G>T (n.581-1G>T) c.557-1G>T (n.557-1G>T) | |
6 | g.18130781C= | CA1613545868 | TPMT | c.626-1G= (n.626-1G=) c.581-1G= (n.581-1G=) c.557-1G= (n.557-1G=) | |
6 | g.18130781C>G | CA362832854 | TPMT | c.626-1G>C (n.626-1G>C) c.581-1G>C (n.581-1G>C) c.557-1G>C (n.557-1G>C) | |
6 | g.18130781C>T | CA358449 | TPMT | c.626-1G>A (n.626-1G>A) c.581-1G>A (n.581-1G>A) c.557-1G>A (n.557-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130782T>A | CA362832867 | TPMT | c.626-2A>T (n.626-2A>T) c.581-2A>T (n.581-2A>T) c.557-2A>T (n.557-2A>T) | gnomAD v4 |
6 | g.18130782T>C | CA362832864 | TPMT | c.626-2A>G (n.626-2A>G) c.581-2A>G (n.581-2A>G) c.557-2A>G (n.557-2A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130782T>G | CA362832859 | TPMT | c.626-2A>C (n.626-2A>C) c.581-2A>C (n.581-2A>C) c.557-2A>C (n.557-2A>C) | |
6 | g.18130782T= | CA1613545876 | TPMT | c.626-2A= (n.626-2A=) c.581-2A= (n.581-2A=) c.557-2A= (n.557-2A=) | |
6 | g.18130783G>C | CA645551456 | TPMT | c.626-3C>G (n.626-3C>G) c.581-3C>G (n.581-3C>G) c.557-3C>G (n.557-3C>G) | gnomAD v4 COSMIC |
6 | g.18130783G>T | CA2677457498 | TPMT | c.626-3C>A (n.626-3C>A) c.581-3C>A (n.581-3C>A) c.557-3C>A (n.557-3C>A) | gnomAD v4 |
6 | g.18130788A>G | CA2677457500 | TPMT | c.626-8T>C (n.626-8T>C) c.581-8T>C (n.581-8T>C) c.557-8T>C (n.557-8T>C) | gnomAD v4 |
6 | g.18130788_18130789insTGTAA | CA2677457499 | TPMT | c.626-8_626-7insTACAT (n.626-8_626-7insTACAT) c.581-8_581-7insTACAT (n.581-8_581-7insTACAT) c.557-8_557-7insTACAT (n.557-8_557-7insTACAT) | gnomAD v4 |
6 | g.18130793del | CA2677457501 | TPMT | c.626-11del (n.626-11del) c.581-11del (n.581-11del) c.557-11del (n.557-11del) | gnomAD v4 |
6 | g.18130793A= | CA1613545879 | TPMT | c.626-13T= (n.626-13T=) c.581-13T= (n.581-13T=) c.557-13T= (n.557-13T=) | |
6 | g.18130793A>G | CA1613545880 | TPMT | c.626-13T>C (n.626-13T>C) c.581-13T>C (n.581-13T>C) c.557-13T>C (n.557-13T>C) | dbSNP gnomAD v4 |
6 | g.18130794G>C | CA2677457502 | TPMT | c.626-14C>G (n.626-14C>G) c.581-14C>G (n.581-14C>G) c.557-14C>G (n.557-14C>G) | gnomAD v4 |
6 | g.18130796G>A | CA2677457503 | TPMT | c.626-16C>T (n.626-16C>T) c.581-16C>T (n.581-16C>T) c.557-16C>T (n.557-16C>T) | gnomAD v4 |
6 | g.18130797T>C | CA565555016 | TPMT | c.626-17A>G (n.626-17A>G) c.581-17A>G (n.581-17A>G) c.557-17A>G (n.557-17A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130797T= | CA1613545882 | TPMT | c.626-17A= (n.626-17A=) c.581-17A= (n.581-17A=) c.557-17A= (n.557-17A=) | |
6 | g.18130798A= | CA1613545884 | TPMT | c.626-18T= (n.626-18T=) c.581-18T= (n.581-18T=) c.557-18T= (n.557-18T=) | |
6 | g.18130798A>G | CA1613545885 | TPMT | c.626-18T>C (n.626-18T>C) c.581-18T>C (n.581-18T>C) c.557-18T>C (n.557-18T>C) | dbSNP gnomAD v4 |
6 | g.18130801A= | CA1613545888 | TPMT | c.626-21T= (n.626-21T=) c.581-21T= (n.581-21T=) c.557-21T= (n.557-21T=) | |
6 | g.18130801A>G | CA3650097 | TPMT | c.626-21T>C (n.626-21T>C) c.581-21T>C (n.581-21T>C) c.557-21T>C (n.557-21T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130801A>T | CA448764775 | TPMT | c.626-21T>A (n.626-21T>A) c.581-21T>A (n.581-21T>A) c.557-21T>A (n.557-21T>A) | |
6 | g.18130802del | CA2677457504 | TPMT | c.626-22del (n.626-22del) c.581-22del (n.581-22del) c.557-22del (n.557-22del) | gnomAD v4 |
6 | g.18130802T>C | CA3650098 | TPMT | c.626-22A>G (n.626-22A>G) c.581-22A>G (n.581-22A>G) c.557-22A>G (n.557-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18130802T= | CA1613545890 | TPMT | c.626-22A= (n.626-22A=) c.581-22A= (n.581-22A=) c.557-22A= (n.557-22A=) | |
6 | g.18130804T>C | CA3650099 | TPMT | c.626-24A>G (n.626-24A>G) c.581-24A>G (n.581-24A>G) c.557-24A>G (n.557-24A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18130804T= | CA1613545892 | TPMT | c.626-24A= (n.626-24A=) c.581-24A= (n.581-24A=) c.557-24A= (n.557-24A=) | |
6 | g.18130805T>G | CA2677457505 | TPMT | c.626-25A>C (n.626-25A>C) c.581-25A>C (n.581-25A>C) c.557-25A>C (n.557-25A>C) | gnomAD v4 |
6 | g.18130808A>T | CA2677457506 | TPMT | c.626-28T>A (n.626-28T>A) c.581-28T>A (n.581-28T>A) c.557-28T>A (n.557-28T>A) | gnomAD v4 |
6 | g.18130813T>C | CA3650100 | TPMT | c.626-33A>G (n.626-33A>G) c.581-33A>G (n.581-33A>G) c.557-33A>G (n.557-33A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18130813T= | CA1613545894 | TPMT | c.626-33A= (n.626-33A=) c.581-33A= (n.581-33A=) c.557-33A= (n.557-33A=) | |
6 | g.18130814A= | CA1613545898 | TPMT | c.626-34T= (n.626-34T=) c.581-34T= (n.581-34T=) c.557-34T= (n.557-34T=) | |
6 | g.18130814A>G | CA565555017 | TPMT | c.626-34T>C (n.626-34T>C) c.581-34T>C (n.581-34T>C) c.557-34T>C (n.557-34T>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.18130815T>C | CA134961570 | TPMT | c.626-35A>G (n.626-35A>G) c.581-35A>G (n.581-35A>G) c.557-35A>G (n.557-35A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130815T= | CA1613545902 | TPMT | c.626-35A= (n.626-35A=) c.581-35A= (n.581-35A=) c.557-35A= (n.557-35A=) | |
6 | g.18130816G>T | CA2570092848 | TPMT | c.626-36C>A (n.626-36C>A) c.581-36C>A (n.581-36C>A) c.557-36C>A (n.557-36C>A) | gnomAD v4 |
6 | g.18130819G= | CA1613545904 | TPMT | c.626-39C= (n.626-39C=) c.581-39C= (n.581-39C=) c.557-39C= (n.557-39C=) | |
6 | g.18130819G>T | CA822712599 | TPMT | c.626-39C>A (n.626-39C>A) c.581-39C>A (n.581-39C>A) c.557-39C>A (n.557-39C>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130823G>A | CA2677457507 | TPMT | c.626-43C>T (n.626-43C>T) c.581-43C>T (n.581-43C>T) c.557-43C>T (n.557-43C>T) | gnomAD v4 |
6 | g.18130823G>T | CA2677457508 | TPMT | c.626-43C>A (n.626-43C>A) c.581-43C>A (n.581-43C>A) c.557-43C>A (n.557-43C>A) | gnomAD v4 |
6 | g.18130824A= | CA1613545906 | TPMT | c.626-44T= (n.626-44T=) c.581-44T= (n.581-44T=) c.557-44T= (n.557-44T=) | |
6 | g.18130824A>G | CA1086467287 | TPMT | c.626-44T>C (n.626-44T>C) c.581-44T>C (n.581-44T>C) c.557-44T>C (n.557-44T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130825C>A | CA2677457509 | TPMT | c.626-45G>T (n.626-45G>T) c.581-45G>T (n.581-45G>T) c.557-45G>T (n.557-45G>T) | gnomAD v4 |
6 | g.18130825C= | CA1613545910 | TPMT | c.626-45G= (n.626-45G=) c.581-45G= (n.581-45G=) c.557-45G= (n.557-45G=) | |
6 | g.18130825C>T | CA3650101 | TPMT | c.626-45G>A (n.626-45G>A) c.581-45G>A (n.581-45G>A) c.557-45G>A (n.557-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.18130826A= | CA1613545912 | TPMT | c.626-46T= (n.626-46T=) c.581-46T= (n.581-46T=) c.557-46T= (n.557-46T=) | |
6 | g.18130826A>C | CA2677457510 | TPMT | c.626-46T>G (n.626-46T>G) c.581-46T>G (n.581-46T>G) c.557-46T>G (n.557-46T>G) | gnomAD v4 |
6 | g.18130826A>G | CA134961572 | TPMT | c.626-46T>C (n.626-46T>C) c.581-46T>C (n.581-46T>C) c.557-46T>C (n.557-46T>C) | dbSNP |
6 | g.18130826A>T | CA2578538791 | TPMT | c.626-46T>A (n.626-46T>A) c.581-46T>A (n.581-46T>A) c.557-46T>A (n.557-46T>A) | |
6 | g.18130827_18130831delinsTCAGG | CA1613545914 | TPMT | c.626-51_626-47delinsCCTGA (n.626-51_626-47delinsCCTGA) c.581-51_581-47delinsCCTGA (n.581-51_581-47delinsCCTGA) c.557-51_557-47delinsCCTGA (n.557-51_557-47delinsCCTGA) | |
6 | g.18130828C>A | CA2528698028 | TPMT | c.626-48G>T (n.626-48G>T) c.581-48G>T (n.581-48G>T) c.557-48G>T (n.557-48G>T) | |
6 | g.18130828C>T | CA2677457511 | TPMT | c.626-48G>A (n.626-48G>A) c.581-48G>A (n.581-48G>A) c.557-48G>A (n.557-48G>A) | gnomAD v4 |
6 | g.18130828_18130831del | CA3650102 | TPMT | c.626-51_626-48del (n.626-51_626-48del) c.581-51_581-48del (n.581-51_581-48del) c.557-51_557-48del (n.557-51_557-48del) | dbSNP ExAC |
6 | g.18130829_18130830insAAGTT | CA2557184987 | TPMT | c.626-50_626-49insAACTT (n.626-50_626-49insAACTT) c.581-50_581-49insAACTT (n.581-50_581-49insAACTT) c.557-50_557-49insAACTT (n.557-50_557-49insAACTT) | |
6 | g.18130831G>A | CA2677457512 | TPMT | c.626-51C>T (n.626-51C>T) c.581-51C>T (n.581-51C>T) c.557-51C>T (n.557-51C>T) | gnomAD v4 |
6 | g.18130832G>A | CA2677457513 | TPMT | c.626-52C>T (n.626-52C>T) c.581-52C>T (n.581-52C>T) c.557-52C>T (n.557-52C>T) | gnomAD v4 |
6 | g.18130832G>T | CA2677457514 | TPMT | c.626-52C>A (n.626-52C>A) c.581-52C>A (n.581-52C>A) c.557-52C>A (n.557-52C>A) | gnomAD v4 |
6 | g.18130833A= | CA1613545916 | TPMT | c.626-53T= (n.626-53T=) c.581-53T= (n.581-53T=) c.557-53T= (n.557-53T=) | |
6 | g.18130833A>G | CA1613545917 | TPMT | c.626-53T>C (n.626-53T>C) c.581-53T>C (n.581-53T>C) c.557-53T>C (n.557-53T>C) | dbSNP gnomAD v4 |
6 | g.18130834T>C | CA2677457515 | TPMT | c.626-54A>G (n.626-54A>G) c.581-54A>G (n.581-54A>G) c.557-54A>G (n.557-54A>G) | gnomAD v4 |
6 | g.18130835T>A | CA362832891 | TPMT | c.626-55A>T (n.626-55A>T) c.581-55A>T (n.581-55A>T) c.557-55A>T (n.557-55A>T) | dbSNP gnomAD v4 |
6 | g.18130835T>C | CA822712608 | TPMT | c.626-55A>G (n.626-55A>G) c.581-55A>G (n.581-55A>G) c.557-55A>G (n.557-55A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.18130835T= | CA1613545920 | TPMT | c.626-55A= (n.626-55A=) c.581-55A= (n.581-55A=) c.557-55A= (n.557-55A=) | |
6 | g.18130836C>T | CA2578538793 | TPMT | c.626-56G>A (n.626-56G>A) c.581-56G>A (n.581-56G>A) c.557-56G>A (n.557-56G>A) | |
6 | g.18130837T>C | CA2677457516 | TPMT | c.626-57A>G (n.626-57A>G) c.581-57A>G (n.581-57A>G) c.557-57A>G (n.557-57A>G) | gnomAD v4 |
6 | g.18130837T>G | CA2677457517 | TPMT | c.626-57A>C (n.626-57A>C) c.581-57A>C (n.581-57A>C) c.557-57A>C (n.557-57A>C) | gnomAD v4 |
6 | g.18130840del | CA2578538795 | TPMT | c.626-57del (n.626-57del) c.581-57del (n.581-57del) c.557-57del (n.557-57del) |