Table 2 Candidate exome sequence variants filtered by database
From: A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene
Chr. position | Gene | Transcript ID | Mutation | Mode, inheritance | Mutation type | dbSNP ID | ClinVar accession # | SIFT | Polyphen2 | Grantham | PhyloP |
|---|---|---|---|---|---|---|---|---|---|---|---|
Chr10:97602239 | ENTPD1 | NM_0017776.5 | c.401T>G, p.M134R | Homozygous, AR | NS, SNV | rs1480686371 | Novel | 0 | 1 | 91.0 | 2.21 |
Chr6:116443023 | COL10A1 | NM_000493.3 | c.256G>A, p.G86R | Homozygous, AD | NS, SNV | rs145214720 | SCV000459720.2 | ND | 1 | 125.0 | 2.77 |
Chr19:47259134 | FKRP | NM_024301.4 | c.427C>A, p.R143S | Heterozygous, AR | NS, SNV | rs148206382 | SCV000797516.1 | ND | ND | 110.0 | 1.16 |
