Table 1 The prediction of the variants that were identified by WES and confirmed by Sanger sequence.
From: Identification of a de novo DYNC1H1 mutation via WES according to published guidelines
Gene name | position | codons | Transcript ID | AA change | Function GVS | Region | dbSNP | ExAC database | 1000 genomes | SIFT score | PolyPhen score | Grantham score | consScore GERP | Mutation Taster | CADD score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYNC1H1 | Chr:14,102452889 | CCG > CtG | ENST00000360184 | P776L | Missense | Exon CDS | Novel | Novel | Novel | 0.04 | 1 | 98 | 5.600 | Disease causing | 28.1 |
HSD17B7(rs563752674) | Chr:1,162762441 | C > T | ENST00000254521 | None | Intron-near-splice | Intron | 0.0018 | 0.001052 | <0.01 | N/A | N/A | N/A | 2.350 | Disease causing | 16.11 |
