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 |
| ABCC6 | NM_001171.6 | c.1132C>T | 372294 | 詳細資訊 |
| ACADM | NM_000016.5 | c.449_452del | 189036 | 詳細資訊 |
| ACADSB | NM_001609.3 | c.655G>A | 577108 | 詳細資訊 |
| ACSF3 | NM_001243279.2 | c.891C>A | 1068495 | 詳細資訊 |
| ADAMTS13 | NM_139027.4 | c.330+1G>A | 632036 | 詳細資訊 |
| AIFM1 | NM_004208.3 | c.1264C>T | 162479 | 詳細資訊 |
| ALDOB | NM_000035.4 | c.1013C>T | 188739 | 詳細資訊 |
| AP1S1 | NM_001283.3 | c.364dup | 503720 | 詳細資訊 |
| AP3B2 | NM_001278512.2 | c.199C>T | 374850 | 詳細資訊 |
| ARSA | NM_000487.6 | c.185_186dupCA | 557842 | 詳細資訊 |
| ASNS | NM_001673.5 | c.1193A>C | 1456043 | 詳細資訊 |
| ASPA | NM_000049.2 | c.160A>C | 1521499 | 詳細資訊 |
| ATM | NM_000051.3 | c.1402_1403del | 140889 | 詳細資訊 |
| ATP6V1A | NM_001690.4 | c.940A>G | 224820 | 詳細資訊 |
| ATP7B | NM_000053.3 | c.3443T>C | 37122 | 詳細資訊 |
| BCKDHB | NM_183050.4 | c.331C>T | 928847 | 詳細資訊 |
| BRAF | NM_004333.6 | c.1796C>G | 280033 | 詳細資訊 |
| BSCL2 | NM_001122955.3 | c.974dup | 372120 | 詳細資訊 |
| BTD | NM_001370658.1 | c.-17+2T>C | 1068379 | 詳細資訊 |
| C9 | NM_001737.3 | c.346C>T | 17040 | 詳細資訊 |
| CAPN3 | NM_000070.2 | c.2120A>G | 468648 | 詳細資訊 |
| CD36 | NM_001001548.2 | c.1228_1239del | 225310 | 詳細資訊 |
| CD3G | NM_000073.2 | c.213del | 541654 | 詳細資訊 |
| CFTR | NM_000492.3 | c.1766+5G>T | 48685 | 詳細資訊 |
| CPLANE1 | NM_023073.3 | c.8406_8407del | 1458989 | 詳細資訊 |
| CPS1 | NM_001875.4 | c.1312G>C | 449391 | 詳細資訊 |
| CPT2 | NM_000098.2 | c.1148T>A | 8958 | 詳細資訊 |
| CYP21A2 | NM_000500.7 | c.293-13C>G | 12155 | 詳細資訊 |
| CYP27A1 | NM_000784.3 | c.808C>T | 65902 | 詳細資訊 |
| DDC | NM_001082971.1 | c.714+4A>T | 864024 | 詳細資訊 |
| DSG2 | NM_001943.5 | c.306_307delTG | 451114 | 詳細資訊 |
| DYNC2H1 | NM_001377.3 | c.10688_10691delTATT | 2885879 | 詳細資訊 |
| ETFDH | NM_004453.3 | c.152G>A | 1019560 | 詳細資訊 |
| EXT2 | NM_207122.2 | c.668G>C | 649849 | 詳細資訊 |
| FAH | NM_000137.2 | c.782C>T | 21058 | 詳細資訊 |
| FBN1 | NM_000138.5 | c.3444dup | NA21976 | 詳細資訊 |
| FMO3 | NM_001002294.3 | c.589_590delTG | 225364 | 詳細資訊 |
| FREM1 | NM_001379081.2 | c.3274+4A>G | 1176898 | 詳細資訊 |
| G6PD | NM_000402.4 | c.1466G>T | 100058 | 詳細資訊 |
| GAA | NM_000152.5 | c.172C>T | 188903 | 詳細資訊 |
| GALC | NM_000153.3 | c.461C>A | 1457103 | 詳細資訊 |
| GCDH | NM_000159.4 | c.1244-2A>C | 193976 | 詳細資訊 |
| GJB2 | NM_004004.5 | c.109G>A | 17023 | 詳細資訊 |
| GLA | NM_000169.3 | c.1212_1214del | 10757 | 詳細資訊 |
| GNE | NM_005476.7 | c.527A>T | 41233 | 詳細資訊 |
| HBB | NM_000518.4 | c.316-197C>T | 15458 | 詳細資訊 |
| HGSNAT | NM_152419.2 | c.493+1G>A | 1230 | 詳細資訊 |
| KIAA0586 | NM_001244189.1 | c.428del | 204593 | 詳細資訊 |
| KIF1A | NM_001244008.1 | c.760C>T | 245636 | 詳細資訊 |
| LDLR | NM_000527.5 | c.268G>A | 251105 | 詳細資訊 |
| MEFV | NM_000243.2 | c.2282G>A | 2549 | 詳細資訊 |
| MFSD8 | NM_001371596.2 | c.1102+2T>C | 2068020 | 詳細資訊 |
| MPL | NM_005373.2 | c.413del | 528088 | 詳細資訊 |
| MTHFR | NM_005957.5 | c.835G>T | 2759577 | 詳細資訊 |
| MYH7 | NM_000257.3 | c.427C>T | 164401 | 詳細資訊 |
| NEB | NM_001164508.1 | c.133_146del | 1072759 | 詳細資訊 |
| NPC1 | NM_000271.5 | c.3634G>T | 558706 | 詳細資訊 |
| OSGEP | NM_017807.3 | c.740G>A | 444893 | 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 |
| PAX2 | NM_000278.4 | c.76dup | 156297 | 詳細資訊 |
| PCCB | NM_000532.5 | c.1087T>C | 939354 | 詳細資訊 |
| PEX1 | NM_000466.2 | c.2966T>C | 224325 | 詳細資訊 |
| PEX6 | NM_000287.4 | c.1313dup | 1323439 | 詳細資訊 |
| PLA2G6 | NM_003560.2 | c.1077G>A | 279875 | 詳細資訊 |
| PLEC | NM_201384.3 | c.6079C>T | 830362 | 詳細資訊 |
| PNKP | NM_007254.4 | c.1126+4_1126+5insAA | 206425 | 詳細資訊 |
| POLG | NM_002693.3 | c.3218C>T | 13516 | 詳細資訊 |
| PROS1 | NM_000313.4 | c.1680T>A | 627172 | 詳細資訊 |
| PRRT2 | NM_145239.2 | c.718C>T | 31174 | 詳細資訊 |
| PTS | NM_000317.2 | c.155A>G | 479 | 詳細資訊 |
| RECQL4 | NM_004260.3 | c.1770_1807del | 575425 | 詳細資訊 |
| RNU4ATAC | ENST00000580972.1 | n.54G>A | 30179 | 詳細資訊 |
| RYR1 | NM_000540.3 | c.9847C>T | 523793 | 詳細資訊 |
| SBDS | NM_016038.2 | c.258+2T>C | 3196 | 詳細資訊 |
| SCN5A | NM_001099404.1 | c.3988G>A | 67842 | 詳細資訊 |
| SLC12A1 | NM_000338.3 | c.1411C>T | 2736215 | 詳細資訊 |
| SLC25A13 | NM_014251.2 | c.852_855del | 225472 | 詳細資訊 |
| SLC26A4 | NM_000441.1 | c.2168A>G | 4825 | 詳細資訊 |
| SMPD1 | NM_000543.4 | c.1458T>G | 662004 | 詳細資訊 |
| SPINK5 | NM_001127698.1 | c.602+1G>T | 2965380 | 詳細資訊 |
| SZT2 | NM_015284.3 | c.5734C>T | 932499 | 詳細資訊 |
| TARDBP | NM_007375.3 | c.1123A>G | 2202699 | 詳細資訊 |
| TREX1 | NM_033629.4 | c.388G>C | 451027 | 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 |
| WDR73 | NM_032856.3 | c.21G>A | 2297702 | 詳細資訊 |
| ZEB2 | NM_014795.4 | c.2083C>T | 4755 | 詳細資訊 |