Knowledge base for genomic medicine in Japanese
家族性大腸腺腫症
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
DuplicationNM_000038.6(APC):c.3877dup (p.Thr1293fs)APCPathogenic5112175167112175168GGAcriteria provided, single submitter-
DeletionNM_000038.6(APC):c.3935del (p.Gly1312fs)APCPathogenic5112175225112175225TGTcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000038.6(APC):c.4006A>T (p.Arg1336Ter)APCPathogenic5112175297112175297ATcriteria provided, multiple submitters, no conflicts-
single nucleotide variantNM_000038.6(APC):c.4025T>G (p.Leu1342Ter)APCPathogenic5112175316112175316TGcriteria provided, single submitter-
DeletionNM_000038.6(APC):c.4240del (p.Met1413_Val1414insTer)APCPathogenic5112175530112175530TGTcriteria provided, multiple submitters, no conflicts-
DeletionNM_000038.6(APC):c.4260del (p.Ser1421fs)APCPathogenic5112175548112175548GCGcriteria provided, multiple submitters, no conflicts-
DeletionNM_000038.6(APC):c.4306del (p.Ser1436fs)APCPathogenic5112175596112175596GAGcriteria provided, single submitter-
DeletionNM_000038.6(APC):c.4326del (p.Pro1443fs)APCPathogenic5112175617112175617CTCcriteria provided, multiple submitters, no conflicts-
DeletionNM_000038.6(APC):c.4339del (p.Gln1447fs)APCPathogenic5112175630112175630TCTcriteria provided, single submitter-
DeletionNM_000038.6(APC):c.4397del (p.Gly1466fs)APCPathogenic5112175687112175687TGTcriteria provided, multiple submitters, no conflicts-