Table 1.
Family ID | Affected Individuals Sequenced/Total in pedigree | Unaffected Individuals Sequenced/Total in pedigree | Gene | Mutation (HG19 Coordinates) | PolyPhen-2 Prediction (score) | Mutation Taster Prediction |
---|---|---|---|---|---|---|
A | 4/5 | 1/4 | TPM1 | p.D275H (chr15:g.23857430C>C) | Probably damaging (0.992) | Disease causing |
B | 5/7 | 0/2 | MYH7 | p.S648L (chr14:g.23896462G>A) | Possibly damaging (0.906) | Disease causing |
C | 2/2 | 2/6 | NNT | c.638_639insT (chr5:g.43619172insT) | N/A | Disease causing |
D | 2/2 | 0/2 | MYH7 | p.Q163P (chr14:g.23901862T>G) | Probably damaging (0.979) | Disease causing |
E | 4/4 | 3/4 | MYH7 | p.E700G (chr14:g.23895236T>C) | Probably damaging (0.997) | Disease causing |