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| ID | Amino acid change | Exon | Base change (cDNA) | Position (Hg19) | aMAF | Genotype | Sex/phenotype | Inheritance | PolyPhen-2 | SIFT | Mutation Taster |
|---|---|---|---|---|---|---|---|---|---|---|---|
| DT1 | p.(Pro48Leu) | 1 | c.143C>T | 78492566 | 0 | C/T | M/ S-HSCR | NA | Benign | Tolerated | Disease causing |
MAF, minor allele frequency – Global in 1000 Genome; NA, not available; M, male; S-HSCR, short segment of Hirschsprung's disease.
