Table 2.
Selected Gene Variants Identified in Children with Complete Tracheal Ring Deformity
| Gene | Trio ID | Variant | Mutation Classification | Functional Effect Prediction* |
||
|---|---|---|---|---|---|---|
| SIFT | Polyphen-2 | MutationTaster | ||||
| RIF1 | 5 | 2:152319736 | De novo frameshift Ins | ND | ND | ND |
| NT5DC2 | 3 | 3:52561731 | De novo frameshift Ins | ND | ND | ND |
| SHH | 5 | 7:155596148 | De novo NS SNV | Damaging | Possibly damaging | Disease causing |
| NPAS1 | 5 | 19:47525028 | De novo frameshift Del | ND | ND | ND |
| FAM83C | 1 | 20:33874884 | De novo frameshift Del | ND | ND | ND |
| MED14 | 5 | X:40551442 | De novo NS SNV | Tolerated | Benign | Disease causing |
| HSPG2 | 4 | 1:22160001-SNV | CH NS SNV | Tolerated | Probably damaging | Polymorphism |
| HSPG2 | 4 | 1:22179223-SNV | CH NS SNV | Tolerated | Benign | Disease causing |
| HSPG2 | 4 | 1:22203106-SNV | CH NS SNV | Tolerated | Probably damaging | Disease causing |
| TTN | 4 | 2:179470001-SNV | CH NS SNV | Damaging | Possibly damaging | — |
| TTN | 4 | 2:179579935-SNV | CH NS SNV | Damaging | Benign | — |
| TTN | 4 | 2:179588996-SNV | CH NS SNV | Damaging | Benign | — |
| TTN | 4 | 2:179593449-SNV | CH NS SNV | Damaging | Benign | — |
| TTN | 4 | 2:179615060-SNV | CH NS SNV | Damaging | Probably damaging | Disease causing |
| TTN | 4 | 2:179615386-SNV | CH NS SNV | Tolerated | Benign | Polymorphism |
| TTN | 2 | 2:179401074-SNV | CH NS SNV | Damaging | Probably damaging | — |
| TTN | 2 | 2:179480163-SNV | CH NS SNV | Damaging | Benign | — |
| TTN | 2 | 2:179606172-SNV | CH NS SNV | Damaging | Benign | — |
| ROR2 | 5 | 9:94486491-SNV | CH NS SNV | Damaging | Probably damaging | Disease causing |
| ROR2 | 5 | 9:94487134-SNV | CH NS SNV | Damaging | Probably damaging | Disease causing |
| MYH13 | 1 | 17:10215944-SNV | CH NS SNV | Damaging | Probably damaging | Polymorphism |
| MYH13 | 1 | 17:10236464-SNV | CH NS SNV | Damaging | Probably damaging | Disease causing |
Definition of abbreviations: CH = compound heterozygous; Del = deletion; Ins = insertion; ID = identifier; ND = not determined; NS = nonsynonymous; PolyPhen-2 = polymorphism phenotyping v2; SIFT = Sorting Intolerant From Tolerant; SNV = single-nucleotide variant.
*
Functional predictions were not done for insertion or deletion mutations, because changes in the translational reading frame disrupt the coding sequence and are thus considered to disrupt protein structure and function.