Row | Variant | PhD- SNPg | PANTHER PSEP | SNPs & GO | FATHMM-XF | I-Mutant Disease | PolyPhen -2 | PROVEAN | Mutation Taster | CADD | SIFT | # of tools with pathogenic prediction |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | c.70C>G (p.His24Asp) | P | Pro Da | D | P | D | Pro Da | De | D | 31 | Da | 10:10 |
2 | c.155A>G (p.Asn52Ser) | P | Pro Da | D | P | D | Pro Da | De | D | 25.5 | Da | 10:10 |
3 | c.200C>T (p.Thr67Met) | P | Pos Da | N | P | D | Pro Da | De | D | 31 | Da | 9:10 |
4 | c.259C>T (p.Pro87Ser) | P | Pro Da | N | P | D | Pos Da | De | D | 23.8 | T | 8:10 |
5 | c.281A>T (p.Asp94Val) | P | Pro Da | N | P | D | Pro Da | De | D | 31 | Da | 9:10 |
6 | c.286G>A (p.Asp96Asn) | P | Pro Da | D | P | D | Pro Da | De | D | 31 | Da | 10:10 |
7 | c.293C>T (p.Pro98Leu) | P | Pro Da | N | P | D | Pos Da | De | D | 27.2 | Da | 9:10 |
8 | c.317C>T (p.Thr106Met) | P | Pro Da | D | P | D | Pro Da | De | D | 26.2 | Da | 10:10 |
9 | c.331G>A (p.Ala111Thr) | P | Pro Da | D | P | D | B | De | D | 23.8 | T | 9:10 |
10 | c.351C>A (p.Asn117Lys) | P | Pro Da | N | P | D | B | N | D | 18.26 | T | 5:10 |
11 | c.367C>T (p.Pro123Ser) | P | Pro Da | N | P | D | Pos Da | De | D | 22.8 | T | 8:10 |
12 | c.373G>A (p.Gly125Arg) | P | Pro Da | N | B | D | B | De | D | 23.9 | Da | 7:10 |
13 | c.400G>A (p.Glu134Lys) | P | Pro Da | D | P | D | Pro Da | De | D | 31 | Da | 10:10 |
14 | c.407A>T (p.Asp136Val) | P | Pro Da | N | P | D | Pos Da | De | D | 28.6 | Da | 9:10 |
15 | c.412A>C (p.Asn138His) | P | Pro Da | N | P | D | Pro Da | De | D | 26 | Da | 9:10 |