Table 2. RET (ENST00000355710) rare variants identified in 57 HSCR patients.
| ID | Amino acid change | Exon | Base change (cDNA) | Position (Hg19) | aMAF | Genotype | Sex/phenotype | Inheritance | PolyPhen-2 | SIFT | Mutation Taster |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 2KA | p.(Arg144His)b | 3 | c.431G>A | 43597883 | 0 | G/A | M/S-HSCR | Maternal | Probably damaging | Tolerated | Polymorphism |
| 10KA | p.(Asp489Asn) | 7 | c.1465G>A | 43606856 | 0.004 | G/A | F/S-HSCR | De novo | Benign | Tolerated | Polymorphism |
| 31KB | p.(Gly533Ser) | 8 | c.1597G>A | 43607621 | 0 | G/A | F/S-HSCR | Paternal | Probably damaging | Damaging | Disease causing |
| 55KA | p.(Ala756Val)b | 12 | c.2267C>T | 43612162 | NA | T/T | M/S-HSCR | De novo | Benign | Tolerated | Disease causing |
| 72KA | p.(Arg79Trp)b | 2 | c.235C>T | 43596068 | 0 | C/T | M/S-HSCR | Paternal | Probably damaging | Damaging | Polymorphism |
| p.(Pro270Leu)b | 4 | c.809C>T | 43600582 | 0 | C/T | Maternal | Probably damaging | Damaging | Disease causing | ||
| DT25 | p.(Arg694Gln) | 11 | c.2081G>A | 43610129 | NA | G/A | M/S-HSCR | De novo | Possibly damaging | Damaging | Disease causing |
| DT29 | p.(Tyr1062Cys) | 19 | c.3185A>G | 43622168 | 0 | A/G | M/S-HSCR | NA | Possibly damaging | Tolerated | Disease causing |
| 87KA | − | 11 | c.1880-4A>G)b | 43609924 | 0 | G/G | M/S-HSCR | NA | − | − | − |
a
MAF, minor allele frequency – Global in 1000 Genome; NA, not available; M, male; F, female; S-HSCR, short segment of Hirschsprung's disease.
b
Novel variant.