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Change inheritance mechanism of demo variant
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Chiara Rasi
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Feb 1, 2024
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"##Local ID","Linking ID","Chromosome","Reference allele","Alternate allele","Variant type","Copy number","Reference copy number","Outer start","Inner start","Inner stop","Outer stop","Condition ID type","Condition ID value","Clinical significance","Date last evaluated","Mode of inheritance" | ||
"77d69d4d78a8e272365bdabe4f607327","77d69d4d78a8e272365bdabe4f607327","15","TAAGAATGTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA","T","Deletion","1","2","66633800","66633900","66634100","66634200","HPO","HP:0001298;HP:0001250","Likely pathogenic","2022-12-07","Somatic mutation" | ||
"77d69d4d78a8e272365bdabe4f607327","77d69d4d78a8e272365bdabe4f607327","15","TAAGAATGTTGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA","T","Deletion","1","2","66633800","66633900","66634100","66634200","HPO","HP:0001298;HP:0001250","Likely pathogenic","2022-12-07","Unknown mechanism" |