Case ID# | PC Type | DNA Nucleotide ^{1} Change | Protein Amino Acid Change ^{2} | PC Amount ^{3} | PC Activity ^{4} |
---|

1 | C | c.[796T>G; =] + [=; 2114C>A, =] | p.[S266A; =] + [=; S705X, =] | 86% | 1.9% |

2 | B | c.[1892G>A, =; =] + [=; 2493_2494delGT, =] | p.[R631Q, =; =] + [=; V831Vfs*832,=] | 8% | 0 |

3 | B | c.[321+1G>T] + [321+1G>T] | p.[V105_K107del] + [V105_K107del] | 3% | 0 |

4 | B | c.[806G>A] + [806G>A] | p.[R269Q] + [R269Q] | 2% | 5% |

5 | B | c.[467G>A; 496G>A; 1892G>A, =; 2540C>T, =] + [467G>A; 496G>A; =; =] | p.[R156Q; V166I; R631Q, =; A847V, =] + [R156Q; V166I; =; =] | 44% | 1.9% |

6 | A | c.[184C>T; 1892G>A ; 2540C>T] + [=; 1892G> A, =; 2540C> T, =] | p.[R62C; R631Q; 847V] + [=; R631Q, =; A847V, =] | 49% | 6% |

7 | B | c.[1892G>A; 2540C>T] + [1892G>A, =; 2540C>T, =] ^{6} | p.[R631Q; A847V] + [R631Q, =; A847V, =] | 17% | 17% |

8 | C | c.[1705A>G; =] + [=; 3409-3410delCT] | p.[T569A; =] + [=; L1137Vfs*1170] | N/A | 1% |

9 ^{5} | A | c.[434T>C] + [434T>C] | p.[V145A] + [V145A] | Barely detectable | 7%-25% |

10 ^{5} | A | c.[1351C>T] + [1351C>T] | p.[R451C] + [R451C] | ~100% | 7% |

11 ^{5} | A | c.[1828G>A] + [1828G>A] | p.[A610>T] + [A610T] | ~100% | 1%-4% |

12 ^{5} | A | c.[2229G>T] + [2229G>T] | p.[M743I] + [M743I] | ~100% | 1%-4% |

13 ^{5} | B | c.[2493_2494delGT] + [2473+2-2473+5delTGCA] | p.[V831Vfs*832] + [E825Gfs*846] | ~0 | 1%-4% |