Knowledge base for genomic medicine in Japanese
家族性膵がん
腫瘍性疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_007294.4(BRCA1):c.4088C>G (p.Ser1363Ter)BRCA1Pathogenic174124346041243460GCreviewed by expert panelClinGen:CA10586612
DeletionNM_007294.4(BRCA1):c.4038_4039del (p.Gly1348fs)BRCA1Pathogenic174124350941243510CTTCreviewed by expert panelClinGen:CA002576
DuplicationNM_007294.4(BRCA1):c.4015dup (p.Glu1339fs)BRCA1Pathogenic174124353241243533TTCreviewed by expert panelClinGen:CA10586613
DeletionNM_007294.4(BRCA1):c.4013del (p.Lys1338fs)BRCA1Pathogenic174124353541243535CTCreviewed by expert panelClinGen:CA10586614
DeletionNM_007294.4(BRCA1):c.3999_4008del (p.Gly1334fs)BRCA1Pathogenic174124354041243549CACTCAGACCACreviewed by expert panelClinGen:CA059069
single nucleotide variantNM_007294.4(BRCA1):c.3910G>T (p.Glu1304Ter)BRCA1Pathogenic174124363841243638CAreviewed by expert panelClinGen:CA10586615
DeletionNM_007294.4(BRCA1):c.3889del (p.Ser1297fs)BRCA1Pathogenic174124365941243659GAGreviewed by expert panelClinGen:CA10586616
DeletionNM_007294.4(BRCA1):c.3853del (p.Ser1286fs)BRCA1Pathogenic174124369541243695AGAreviewed by expert panelClinGen:CA002483
single nucleotide variantNM_007294.4(BRCA1):c.3779T>G (p.Leu1260Ter)BRCA1Pathogenic174124376941243769ACreviewed by expert panelClinGen:CA10586617
DeletionNM_007294.4(BRCA1):c.3770_3777del (p.Glu1257fs)BRCA1Pathogenic174124377141243778AATTCTCCTAreviewed by expert panelClinGen:CA10586618