Table 2.
List of mutations detected by AmpliSeq Inherited Disease Panel (IDP).
| Original Mutation | IDP Panel | |||||
|---|---|---|---|---|---|---|
| Case ID | Gene | Transcript ID | cDNA | Protein | Original Mutation Found (Y/N) | Genotype Matching (Y/N) |
| 13-0045 | ABCD1 | NM_000033 | c.1581C>A | p.Y527X | Y | Y |
| 13-0051 | ACADVL | NM_000018 | c.65C>A | p.S22X | Y | Y |
| 14-3258 | ACADVL | NM_000018 | c.65C>A | p.S22X | Y | Y |
| 13-0097 | AMT | NM_001164710 | c.533G>A | p.R178H | Y | Y |
| 13-0098 | AMT | NM_001164710 | c.280C>T | p.R94W | Y | Y |
| 13-0059 | ARSA | NM_000487 | c.1055A>G | p.N352S | Y | Y |
| 13-0095 | ARSA | NM_000487 | #Missense | Y | Y | |
| 13-0040 | ASL | NM_001024943 | c.1000C>T | p.Q334X | Y | Y |
| 13-0131 | ASL | NM_001024943 | c.556C>T | p.R186W | Y | Y |
| 13-0132 | ASL | NM_001024943 | c.544C>T | p.R182X | Y | Y |
| 13-0133 | ASPA | NM_000049 | #Frameshift insertion | N | NA | |
| 14-3064 | ASPA | NM_000049 | #Frameshift deletion | N | NA | |
| 13-0020 | ATM | NM_000051 | c.381_381delA | p.V128* | Y | Y |
| 13-0009 | BCKDHA | NM_000709 | c.905A>C | p.D302A | Y | Y |
| 13-0013 | BCKDHA | NM_000709 | c.905A>C | p.D302A | Y | Y |
| 13-0093 | BCKDHA | NM_000709 | c.1270C>T | p.Q424X | Y | Y |
| 13-0094 | BCKDHA | NM_000709 | c.647-1G>C | NA | Y | Y |
| 13-0096 | BCKDHA | NM_000709 | c.347A>G | p.D116G | Y | Y |
| 13-0120 | BCKDHA | NM_000709 | c.808G>A | p.A270T | Y | Y |
| 13-0135 | BCKDHA | NM_000709 | c.659_662delCGTA | p.Y221Qfs*108 | Y | Y |
| 13-0091 | BCKDHB | NM_000056 | c.286_288delGAA | p.E96del | N | NA |
| 13-0092 | BCKDHB | NM_000056 | c.1A>T | p.M1L | N | NA |
| 13-0129 | BCKDHB | NM_000056 | c.1006G>A | p.G336S | Y | Y |
| 13-0053 | BTD | NM_000060 | #Missense | Y | Y | |
| 13-0061 | BTD | NM_000060 | #Frameshift deletion | Y | Y | |
| 13-0062 | BTD | NM_000060 | #Missense | Y | Y | |
| 13-0087 | BTD | NM_000060 | #Missense | Y | Y | |
| 13-0088 | BTD | NM_000060 | #Frameshift deletion | Y | Y | |
| 13-0019 | BTK | NM_000061 | c.763C>T | p.R255X | Y | Y |
| 13-0028 | BTK | NM_000061 | c.982C>T | p.Q328X | Y | Y |
| 13-0043 | CFTR | NM_000492 | c.1418_1418delG | p.G473Efs*54 | N | NA |
| 13-0054 | CFTR | NM_000492 | c.1520_1522delTCT | p.F508del | Y | Y |
| 14-3079 | CFTR | NM_000492 | c.3700A>G | p.I1234V | Y | Y |
| 14-3072 | CFTR | NM_000492 | c.416A>T | p.H139L | Y | Y |
| 14-3071 | CFTR | NM_000492 | c.3700A>G | p.I1234V | Y | Y |
| 13-0090 | CDH23 | NM_001171930 | #Missense | Y | Y | |
| 13-0102 | COL11A1 | NM_080630 | c.2354G>A | p.G785E | Y | Y |
| 13-0011 | DBT | NM_001918 | c.61_61delC | p.R21Afs*12 | Y | Y |
| 13-0046 | DBT | NM_001918 | c.773-2A>G | NA | Y | Y |
| 13-0099 | DBT | NM_001918 | c.1195T>C | p.S399P | Y | Y |
| 13-0104 | DBT | NM_001918 | c.1281+3A>G | NA | Y | Y |
| 13-0107 | DBT | NM_001918 | c.137A>G | p.K46R | Y | Y |
| 13-0127 | DBT | NM_001918 | c.773-2A>G | NA | Y | Y |
| 13-0108 | DHCR7 | NM_001163817 | c.861C>G | p.N287K | Y | Y |
| 13-0100 | FGFR3 | NM_000142 | c.1138G>A | p.G380R | Y | Y |
| 13-0010 | GAA | NM_000152 | #Nonsense | Y | Y | |
| 13-0012 | GAA | NM_000152 | #Nonsense | Y | Y | |
| 13-0055 | GAA | NM_000152 | #Nonsense | Y | Y | |
| 13-0103 | GAA | NM_000152 | #Nonsense | Y | Y | |
| 13-0109 | GAA | NM_000152 | #Missense | Y | Y | |
| 13-0110 | GAA | NM_000152 | #Missense | Y | Y | |
| 13-0124 | GAA | NM_000152 | c.655G>A | p.G219R | Y | Y |
| 13-0128 | GAA | NM_000152 | #Nonsense | Y | Y | |
| 13-0064 | GALT | NM_000155 | #Frameshift deletion | Y | Y | |
| 13-0125 | GALT | NM_001258332 | #Missense | Y | Y | |
| 13-0134 | GALT | NM_001258332 | #Missense | Y | Y | |
| 14-3078 | GALT | NM_001258332 | #Missense | Y | Y | |
| 14-3067 | GALT | NM_001258332 | #Missense | Y | Y | |
| 13-0101 | GBA | NM_000157 | c.152G>T | p.S51I | Y | Y |
| 13-0130 | GBE1 | NM_000158 | #Missense | Y | Y | |
| 13-0116 | GJB2 | NM_004004 | c.299T>C | p.W77R | Y | Y |
| 13-0116 | GJB2 | NM_004004 | c.506G>A | p.C169Y | Y | Y |
| 13-0111 | GLDC | NM_000170 | c.2113G>A | p.V705M | Y | Y |
| 13-0060 | IDS | NM_000202 | # Nonsense | Y | Y | |
| 13-0112 | MMAA | NM_172250 | #Nonsense | Y | Y | |
| 13-0126 | MMAA | NM_172250 | #Missense | Y | Y | |
| 13-0063 | MUT | NM_000255 | #Frameshift deletion | Y | Y | |
| 13-0105 | MUT | NM_000255 | c.329A>G | p.Y110C | Y | Y |
| 13-0121 | MUT | NM_000255 | c.278G>A | p.R93H | Y | Y |
| 14-3081 | MUT | NM_000255 | c.1160C>T | p.T387I | Y | Y |
| 14-3080 | MUT | NM_000255 | c.2200C>T | p.Q734X | Y | Y |
| 14-3070 | MUT | NM_000255 | c.2200C>T | p.Q734X | Y | Y |
| 14-3065 | MUT | NM_000255 | c.1677-1G>C | NA | Y | Y |
| 13-0044 | MYO7A | NM_000260 | c.5880-5882delCTT | p.F1961del | Y | Y |
| 13-0117 | MYO7A | NM_000260 | c.2005C>T | p.R669X | Y | Y |
| 13-0066 | OTC | NM_000531 | # Missense | Y | Y | |
| 13-0057 | PAH | NM_000277 | #Missense | Y | Y | |
| 13-0113 | PAH | NM_000277 | #Nonsense | Y | Y | |
| 13-0114 | PAH | NM_000277 | #Missense | N | NA | |
| 13-0122 | PAH | NM_000277 | #Missense | Y | Y | |
| 13-0123 | PAH | NM_000277 | #Nonsense | Y | Y | |
| 13-0136 | PAH | NM_000277 | #Missense | Y | Y | |
| 14-3073 | PAH | NM_000277 | #Missense | Y | Y | |
| 13-0058 | POLG | NM_001126131 | c.2419C>T | p.R807C | Y | Y |
| 13-0115 | PTPN11 | NM_002834 | c.188A>G | p.Y63C | Y | Y |
| 13-0026 | WAS | NM_000377 | c.91G>A | p.E31K | Y | Y |
| 13-0027 | WAS | NM_000377 | c.100C>T | p.R34X | Y | Y |
Mutations were either homozygous (regular), heterozygous (bolded) or hemizygous (underlined). #Exact mutation cannot be disclosed here being part of another ongoing unpublished study.