通過確效之基因清單
V.2.1.01
依據本公司(台基盟生技)制定的一級、二級與三級分析作業標準流程進行確效。
886-2-2651-7187
| Gene | NM_identifier | c_location | Variation_ID | 變異資訊 |
| APOB | NM_000384.2 | c.10579C>T | 40223 | 詳細資訊 |
| ATP7B | NM_000053.4 | c.3191A>C | 370081 | 詳細資訊 |
| BRCA1 | NM_007294.4 | c.3770_3771del | 37546 | 詳細資訊 |
| BRCA2 | NM_000059.3 | c.4415_4418del | 37902 | 詳細資訊 |
| CACNA1S | NM_000069.2 | c.1583G>A | 17625 | 詳細資訊 |
| FBN1 | NM_000138.5 | c.3444dup | NA21976 | 詳細資訊 |
| GAA | NM_000152.5 | c.525del | 4033 | 詳細資訊 |
| GLA | NM_000169.3 | c.1212_1214del | 10757 | 詳細資訊 |
| LDLR | NM_000527.5 | c.2000G>A | 3689 | 詳細資訊 |
| MAX | NM_002382.5 | c.97C>T | 29788 | 詳細資訊 |
| MLH1 | NM_000249.3 | c.1489dup | 89753 | 詳細資訊 |
| MSH2 | NM_000251.2 | c.942+2T>G | 91249 | 詳細資訊 |
| MYBPC3 | NM_000256.3 | c.3624delC | 42727 | 詳細資訊 |
| MYH7 | NM_000257.4 | c.1324C>T | 177897 | 詳細資訊 |
| MYL3 | NM_000258.2 | c.445A>G | 14061 | 詳細資訊 |
| NF2 | NM_000268.4 | c.1140_1141del | NA23163 | 詳細資訊 |
| OTC | NM_000531.6 | c.622G>A | 97274 | 詳細資訊 |
| PALB2 | NM_024675.4 | c.3114-1G>A | 265552 | 詳細資訊 |
| PTEN | NM_000314.8 | c.781C>T | 183073 | 詳細資訊 |
| RPE65 | NM_000329.3 | c.1404_1413delAGAACCCATC | 1066044 | 詳細資訊 |
| RYR1 | NM_000540.3 | c.1201C>T | 133029 | 詳細資訊 |
| SCN5A | NM_000335.4 | c.845G>A | 68048 | 詳細資訊 |
| TNNT2 | NM_001276345.1 | c.418C>T | 43636 | 詳細資訊 |
| TRDN | NM_006073.3 | c.1471+1G>A | 2909704 | 詳細資訊 |
| TSC1 | NM_000368.5 | c.993_994insA | NA07414 | 詳細資訊 |
| TSC2 | NM_000548.5 | c.2468dup | 50183 | 詳細資訊 |
| TTN | NM_001267550.2 | c.40558G>C | 130666 | 詳細資訊 |
| TTR | NM_000371.3 | c.239C>T | 577420 | 詳細資訊 |