Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.18130663C>TCA2677457437TPMTc.*5G>A (n.*5G>A)
gnomAD v4
6g.18130664T>CCA2677457439TPMTc.*4A>G (n.*4A>G)
gnomAD v4
6g.18130665C>ACA2580577648TPMTc.*3G>T (n.*3G>T)
dbSNP
6g.18130665C=CA1613545705TPMTc.*3G= (n.*3G=)
6g.18130665C>GCA2580577649TPMTc.*3G>C (n.*3G>C)
6g.18130665C>TCA3650079TPMTc.*3G>A (n.*3G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130667T>ACA822712320TPMTc.*1A>T (n.*1A>T)
dbSNP
6g.18130667T>CCA822712318TPMTc.*1A>G (n.*1A>G)
dbSNP gnomAD v3 gnomAD v4
6g.18130667T=CA1613545707TPMTc.*1A= (n.*1A=)
6g.18130668T>ACA362832058TPMTc.738A>T (p.Ter246Tyr)
c.693A>T (p.Ter231Tyr)
c.669A>T (p.Ter223Tyr)
6g.18130668T>CCA448764651TPMTc.738A>G (p.Ter246=)
c.693A>G (p.Ter231=)
c.669A>G (p.Ter223=)
dbSNP
6g.18130668T>GCA362832060TPMTc.738A>C (p.Ter246Tyr)
c.693A>C (p.Ter231Tyr)
c.669A>C (p.Ter223Tyr)
6g.18130668T=CA1613545713TPMTc.738A= (p.Ter246=)
c.693A= (p.Ter231=)
c.669A= (p.Ter223=)
6g.18130669T>ACA362832062TPMTc.737A>T (p.Ter246Leu)
c.692A>T (p.Ter231Leu)
c.668A>T (p.Ter223Leu)
6g.18130669T>CCA448764652TPMTc.737A>G (p.Ter246=)
c.692A>G (p.Ter231=)
c.668A>G (p.Ter223=)
gnomAD v4
6g.18130669T>GCA362832065TPMTc.737A>C (p.Ter246Ser)
c.692A>C (p.Ter231Ser)
c.668A>C (p.Ter223Ser)
6g.18130670delCA2677457447TPMTc.736del (p.Ter246LysextTer2)
c.691del (p.Ter231LysextTer2)
c.667del (p.Ter223LysextTer2)
gnomAD v4
6g.18130670A>CCA362832069TPMTc.736T>G (p.Ter246Glu)
c.691T>G (p.Ter231Glu)
c.667T>G (p.Ter223Glu)
6g.18130670A>GCA362832068TPMTc.736T>C (p.Ter246Gln)
c.691T>C (p.Ter231Gln)
c.667T>C (p.Ter223Gln)
6g.18130670A>TCA362832067TPMTc.736T>A (p.Ter246Lys)
c.691T>A (p.Ter231Lys)
c.667T>A (p.Ter223Lys)
6g.18130671C>ACA362832070TPMTc.735G>T (p.Lys245Asn)
c.690G>T (p.Lys230Asn)
c.666G>T (p.Lys222Asn)
6g.18130671C>GCA362832071TPMTc.735G>C (p.Lys245Asn)
c.690G>C (p.Lys230Asn)
c.666G>C (p.Lys222Asn)
6g.18130671C>TCA448764653TPMTc.735G>A (p.Lys245=)
c.690G>A (p.Lys230=)
c.666G>A (p.Lys222=)
6g.18130672T>ACA362832072TPMTc.734A>T (p.Lys245Met)
c.689A>T (p.Lys230Met)
c.665A>T (p.Lys222Met)
6g.18130672T>CCA362832074TPMTc.734A>G (p.Lys245Arg)
c.689A>G (p.Lys230Arg)
c.665A>G (p.Lys222Arg)
COSMIC
6g.18130672T>GCA362832073TPMTc.734A>C (p.Lys245Thr)
c.689A>C (p.Lys230Thr)
c.665A>C (p.Lys222Thr)
6g.18130673T>ACA362832075TPMTc.733A>T (p.Lys245Ter)
c.688A>T (p.Lys230Ter)
c.664A>T (p.Lys222Ter)
6g.18130673T>CCA362832077TPMTc.733A>G (p.Lys245Glu)
c.688A>G (p.Lys230Glu)
c.664A>G (p.Lys222Glu)
6g.18130673T>GCA362832076TPMTc.733A>C (p.Lys245Gln)
c.688A>C (p.Lys230Gln)
c.664A>C (p.Lys222Gln)
6g.18130674T>ACA362832078TPMTc.732A>T (p.Glu244Asp)
c.687A>T (p.Glu229Asp)
c.663A>T (p.Glu221Asp)
6g.18130674T>CCA448764654TPMTc.732A>G (p.Glu244=)
c.687A>G (p.Glu229=)
c.663A>G (p.Glu221=)
6g.18130674T>GCA362832079TPMTc.732A>C (p.Glu244Asp)
c.687A>C (p.Glu229Asp)
c.663A>C (p.Glu221Asp)
6g.18130675T>ACA362832080TPMTc.731A>T (p.Glu244Val)
c.686A>T (p.Glu229Val)
c.662A>T (p.Glu221Val)
6g.18130675T>CCA134961547TPMTc.731A>G (p.Glu244Gly)
c.686A>G (p.Glu229Gly)
c.662A>G (p.Glu221Gly)
dbSNP
6g.18130675T>GCA362832081TPMTc.731A>C (p.Glu244Ala)
c.686A>C (p.Glu229Ala)
c.662A>C (p.Glu221Ala)
6g.18130675T=CA1613545716TPMTc.731A= (p.Glu244=)
c.686A= (p.Glu229=)
c.662A= (p.Glu221=)
6g.18130676C>ACA362832082TPMTc.730G>T (p.Glu244Ter)
c.685G>T (p.Glu229Ter)
c.661G>T (p.Glu221Ter)
6g.18130676C>GCA362832083TPMTc.730G>C (p.Glu244Gln)
c.685G>C (p.Glu229Gln)
c.661G>C (p.Glu221Gln)
6g.18130676C>TCA362832084TPMTc.730G>A (p.Glu244Lys)
c.685G>A (p.Glu229Lys)
c.661G>A (p.Glu221Lys)
6g.18130677T>ACA3650080TPMTc.729A>T (p.Thr243=)
c.684A>T (p.Thr228=)
c.660A>T (p.Thr220=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.18130677T>CCA448764655TPMTc.729A>G (p.Thr243=)
c.684A>G (p.Thr228=)
c.660A>G (p.Thr220=)
6g.18130677T>GCA448764656TPMTc.729A>C (p.Thr243=)
c.684A>C (p.Thr228=)
c.660A>C (p.Thr220=)
6g.18130677T=CA1613545720TPMTc.729A= (p.Thr243=)
c.684A= (p.Thr228=)
c.660A= (p.Thr220=)
6g.18130678G>ACA362832085TPMTc.728C>T (p.Thr243Ile)
c.683C>T (p.Thr228Ile)
c.659C>T (p.Thr220Ile)
6g.18130678G>CCA362832086TPMTc.728C>G (p.Thr243Arg)
c.683C>G (p.Thr228Arg)
c.659C>G (p.Thr220Arg)
6g.18130678G>TCA362832087TPMTc.728C>A (p.Thr243Lys)
c.683C>A (p.Thr228Lys)
c.659C>A (p.Thr220Lys)
6g.18130679T>ACA362832090TPMTc.727A>T (p.Thr243Ser)
c.682A>T (p.Thr228Ser)
c.658A>T (p.Thr220Ser)
6g.18130679T>CCA362832088TPMTc.727A>G (p.Thr243Ala)
c.682A>G (p.Thr228Ala)
c.658A>G (p.Thr220Ala)
dbSNP gnomAD v3 gnomAD v4
6g.18130679T>GCA362832089TPMTc.727A>C (p.Thr243Pro)
c.682A>C (p.Thr228Pro)
c.658A>C (p.Thr220Pro)
6g.18130679T=CA1613545724TPMTc.727A= (p.Thr243=)
c.682A= (p.Thr228=)
c.658A= (p.Thr220=)

Number of alleles fetched