From: Exome sequencing identified new mutations in a Marfan syndrome family
ID | Chr | Start | End | Typea | Gene | Ref depthb | Alt depthb | Function prediction | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
4:1 | 3:5 | 4:1 | 3:5 | PROVEAN | SIFT | Polyphen-2 | FATHMM | MutationTaster | MutationAssessor | ||||||
1 | 3 | 53531321 | 53531321 | C/G | CACNA1D | 66 | 89 | 91 | 81 | -1.894 | 0.03 | Benign | -3.74 | Disease causing | 0.345 |
2 | 6 | 7727522 | 7727522 | -/AGC | BMP6 | 14 | 8 | 7 | 22 | -0.67 | - | - | - | - | - |
3 | 12 | 57556718 | 57556718 | G/A | LRP1 | 79 | 70 | 69 | 69 | -1.693 | 0.041 | Probably damaging | -4.26 | Disease causing | 1.225 |
4 | 12 | 974355 | 974355 | -/C | WNK1 | 75 | 106 | 105 | 78 | - | - | - | - | - | - |
5 | 15 | 48826326 | 48826326 | G/T | FBN1 | 28 | 41 | 26 | 25 | - | - | - | - | - | - |
6 | 15 | 100252710 | 100252715 | CAGCAG/- | MEF2A | 65 | 57 | 38 | 85 | 1.329 | - | - | - | - | - |
7 | 18 | 28648998 | 28649000 | TCC/- | DSC2 | 79 | 91 | 61 | 43 | -6.656 | - | - | - | - | - |