Knowledge base for genomic medicine in Japanese
特発性拡張型心筋症
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
InsertionNM_001267550.2(TTN):c.82684_82685insSVAelementTTNLikely pathogenic2179428174179428175nanacriteria provided, single submitter-
DeletionNM_001267550.2(TTN):c.82226del (p.Lys27409fs)TTNLikely pathogenic2179428633179428633CTCcriteria provided, single submitter-
DeletionNM_001267550.2(TTN):c.81718del (p.Arg27240fs)TTNLikely pathogenic2179429141179429141CTCcriteria provided, single submitter-
DeletionNM_001267550.2(TTN):c.81323del (p.His27108fs)TTNLikely pathogenic2179429536179429536ATAcriteria provided, single submitter-
DeletionNM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs)TTNLikely pathogenic2179430117179430123TGACCCAATcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter)TTNLikely pathogenic2179430312179430312ACcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter)TTNLikely pathogenic2179431320179431320ATcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter)TTNLikely pathogenic2179432610179432610ACcriteria provided, single submitter-
single nucleotide variantNM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter)TTNLikely pathogenic2179433611179433611GAcriteria provided, single submitter-
DuplicationNM_001267550.2(TTN):c.77145dup (p.Ser25716fs)TTNLikely pathogenic2179433713179433714AAGcriteria provided, multiple submitters, no conflicts-