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