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 |
| ABCA4 | NM_000350.2r | c.5761G>A | 99406 | 詳細資訊 |
| ABCC2 | NM_000392.4 | c.4239_4240dup | 818031 | 詳細資訊 |
| ABCC6 | NM_001171.6 | c.3490C>T | 6572 | 詳細資訊 |
| ACADM | NM_000016.6 | c.985A>G | 3586 | 詳細資訊 |
| ACADS | NM_000017.4 | c.511C>T | 3830 | 詳細資訊 |
| ACSF3 | NM_001243279.2 | c.891C>A | 1068495 | 詳細資訊 |
| ACTG1 | NM_001614.3 | c.766C>T | 29590 | 詳細資訊 |
| ADA | NM_000022.4 | c.986C>T | 1959 | 詳細資訊 |
| ADSL | NM_000026.3 | c.569G>A | 2465 | 詳細資訊 |
| AHI1 | NM_001134831.1 | c.533_534del | 1458722 | 詳細資訊 |
| AIRE | NM_000383.4 | c.652+1G>T | 370839 | 詳細資訊 |
| ALDH7A1 | NM_001182.5 | c.1547A>G | 647989 | 詳細資訊 |
| ALG6 | NM_013339.4 | c.897_899del | 30420 | 詳細資訊 |
| ALPL | NM_000478.6 | c.881A>C | 13664 | 詳細資訊 |
| AP3B1 | NM_003664.5 | c.1975G>T | 6378 | 詳細資訊 |
| APOB | NM_000384.2 | c.10579C>T | 40223 | 詳細資訊 |
| ASL | NM_000048.4 | c.35G>A | 92360 | 詳細資訊 |
| ASS1 | NM_054012.4 | c.688+2delT | 1066521 | 詳細資訊 |
| ATM | NM_000051.3 | c.6615G>A | 490667 | 詳細資訊 |
| ATP7B | NM_000053.4 | c.3191A>C | 370081 | 詳細資訊 |
| BBS2 | NM_031885.3 | c.2107C>T | 496478 | 詳細資訊 |
| BCL11A | NM_022893.3 | c.1078dup | 426886 | 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 |
| BSCL2 | NM_001122955.3 | c.455A>G | 4543 | 詳細資訊 |
| BTD | NM_001370658.1 | c.1324delA | 1456933 | 詳細資訊 |
| CACNA1S | NM_000069.2 | c.1583G>A | 17625 | 詳細資訊 |
| CAPN3 | NM_000070.3 | c.550del | 17621 | 詳細資訊 |
| CC2D2A | NM_001080522.2 | c.4465_4468del | 210612 | 詳細資訊 |
| CDC45 | NM_001178010.2 | c.326_329dup | 619950 | 詳細資訊 |
| CDK13 | NM_003718.5 | c.2525A>G | 235887 | 詳細資訊 |
| CEP152 | NM_001194998.2 | c.1348C>T | 2960295 | 詳細資訊 |
| CEP290 | NM_025114.3 | c.6012-2A>G | 931558 | 詳細資訊 |
| CERKL | NM_201548.5 | c.1404delA | 866631 | 詳細資訊 |
| CFTR | NM_000492.4 | c.1652G>A | 7120 | 詳細資訊 |
| CHD7 | NM_017780.3 | c.7957C>T | 158321 | 詳細資訊 |
| CHRNA1 | NM_000079.3 | c.779-1_779insA | 835942 | 詳細資訊 |
| CLCN1 | NM_000083.2 | c.1663C>T | 390794 | 詳細資訊 |
| CLPB | NM_001258392.3 | c.658C>T | 279604 | 詳細資訊 |
| COG5 | NM_006348.5 | c.463_467delinsCT | 932925 | 詳細資訊 |
| COL1A2 | NM_000089.4 | c.2990G>A | NA10503 | 詳細資訊 |
| COL27A1 | NM_032888.4 | c.2268+1G>T | 2021548 | 詳細資訊 |
| COL2A1 | NM_001844.5 | c.3892del | 1357598 | 詳細資訊 |
| COL4A5 | NM_033380.2 | c.1717G>A | 2636191 | 詳細資訊 |
| CRB1 | NM_201253.2 | c.1997T>A | 1457843 | 詳細資訊 |
| CRTAP | NM_006371.4 | c.1153-3C>G | 1019549 | 詳細資訊 |
| CRX | NM_000554.6 | c.121C>T | 7418 | 詳細資訊 |
| CSNK2B | NM_001320.7 | c.462_465delGGAT | 2285081 | 詳細資訊 |
| CSPP1 | NM_024790.6 | c.2708del | 217642 | 詳細資訊 |
| CTSD | NM_001909.4 | c.268dup | 430138 | 詳細資訊 |
| CYP27B1 | NM_000785.3 | c.1319_1325dup | 279798 | 詳細資訊 |
| CYP4V2 | NM_207352.3 | c.992A>C | 39275 | 詳細資訊 |
| DBT | NM_001918.5 | c.670G>T | 94009 | 詳細資訊 |
| DCX | NM_000555.3 | c.926T>C | 158499 | 詳細資訊 |
| DDB2 | NM_000107.3 | c.1045_1047del | 2137064 | 詳細資訊 |
| DEAF1 | NM_021008.4 | c.700T>G | 391596 | 詳細資訊 |
| DHCR7 | NM_001360.3 | c.1213C>T | NA05788 | 詳細資訊 |
| DHDDS | NM_024887.3 | c.632G>A | 488193 | 詳細資訊 |
| DMD | NM_004006.3 | c.7894del | NA05263 | 詳細資訊 |
| DNMT3A | NM_022552.4 | c.2711C>T | 372798 | 詳細資訊 |
| DPYS | NM_001385.2 | c.905G>A | 631543 | 詳細資訊 |
| DYNC2H1 | NM_001377.2 | c.10024C>T | 595515 | 詳細資訊 |
| DYRK1A | NM_130436.2 | c.263_264del | 418949 | 詳細資訊 |
| EHMT1 | NM_024757.5 | c.3346C>T | 521743 | 詳細資訊 |
| ELANE | NM_001972.3 | c.416C>T | 16743 | 詳細資訊 |
| ERCC6 | NM_000124.3 | c.1607T>G | 858140 | 詳細資訊 |
| ERCC8 | NM_000082.4 | c.914C>G | 1401819 | 詳細資訊 |
| ETFDH | NM_004453.3 | c.770A>G | 666174 | 詳細資訊 |
| EXT1 | NM_000127.2 | c.1469del | 265131 | 詳細資訊 |
| EXT2 | NM_000401.3 | c.1270C>A | 2445372 | 詳細資訊 |
| EYS | NM_001142800.1 | c.6416G>A | 189230 | 詳細資訊 |
| FANCA | NM_000135.2 | c.1777-1G>C | 550567 | 詳細資訊 |
| FBN1 | NM_000138.5 | c.3444dup | NA21976 | 詳細資訊 |
| FBN2 | NM_001999.4 | c.3343G>C | 137330 | 詳細資訊 |
| FBP1 | NM_001127628.1 | c.355G>A | 214364 | 詳細資訊 |
| FGFR3 | NM_000142.5 | c.742C>T | 16332 | 詳細資訊 |
| FKRP | NM_024301.4 | c.545A>G | 282247 | 詳細資訊 |
| FOXG1 | NM_005249.5 | c.974_975insA | 3237339 | 詳細資訊 |
| G6PD | NM_001042351.2 | c.1376G>T | 100058 | 詳細資訊 |
| GAA | NM_000152.5 | c.525del | 4033 | 詳細資訊 |
| GALC | NM_000153.3 | c.1592G>A | 167119 | 詳細資訊 |
| GALT | NM_000155.4 | c.563A>G | 3614 | 詳細資訊 |
| GBA1 | NM_000157.4 | c.1226A>G | 4290 | 詳細資訊 |
| GCDH | NM_000159.4 | c.680G>C | 2089 | 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 |
| GLB1 | NM_000404.4 | c.817_818delTGinsCT | 568792 | 詳細資訊 |
| GNAO1 | NM_138736.2 | c.625C>T | 265350 | 詳細資訊 |
| GNE | NM_005476.7 | c.527A>T | 41233 | 詳細資訊 |
| GNS | NM_002076.4 | c.1063C>T | 2932 | 詳細資訊 |
| GPR143 | NM_000273.3 | c.162_198del | 10524 | 詳細資訊 |
| GPR179 | NM_001004334.3 | c.148C>T | 1324509 | 詳細資訊 |
| GRIN2B | NM_000834.5 | c.2116A>G | 374226 | 詳細資訊 |
| HBB | NM_000518.5 | c.-137C>G | 15464 | 詳細資訊 |
| HEXB | NM_000521.4 | NM_000521.4 | 3878 | 詳細資訊 |
| HLCS | NM_001352514.2 | c.2089G>A | 1911 | 詳細資訊 |
| HNF1B | NM_000458.4 | c.494G>A | 12647 | 詳細資訊 |
| HPS6 | NM_024747.5 | c.181C>T | 2062597 | 詳細資訊 |
| HUWE1 | NM_031407.6 | c.9209G>A | 841299 | 詳細資訊 |
| IDS | NM_000202.8 | c.208dup | 195037 | 詳細資訊 |
| IDUA | NM_000203.5 | c.1205G>A | 11908 | 詳細資訊 |
| IFT52 | NM_016004.5 | c.820C>T | 964973 | 詳細資訊 |
| KCNQ2 | NM_172106.2 | c.365C>T | 21787 | 詳細資訊 |
| KLHL7 | NM_001031710.2 | c.458C>T | 1009 | 詳細資訊 |
| LAMA2 | NM_000426.4 | c.7732C>T | 14296 | 詳細資訊 |
| LDLR | NM_000527.5 | c.2000G>A | 3689 | 詳細資訊 |
| LPL | NM_000237.3 | c.862G>A | 2735132 | 詳細資訊 |
| LRRK2 | NM_198578.4 | c.4321C>T | 1938 | 詳細資訊 |
| MAX | NM_002382.5 | c.97C>T | 29788 | 詳細資訊 |
| MCCC1 | NM_020166.4 | c.980C>G | 265231 | 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 |
| MTTP | NM_000253.3 | c.1868-2A>G | 646677 | 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 |
| MYO15A | NM_016239.3 | c.3524dup | 803332 | 詳細資訊 |
| NAGLU | NM_000263.4 | c.889C>T | 1562 | 詳細資訊 |
| NEB | NM_001164508.2 | c.24666del | 279999 | 詳細資訊 |
| NEU1 | NM_000434.3 | c.544A>G | 430337 | 詳細資訊 |
| NF1 | NM_001042492.2 | c.61-1G>A | 943213 | 詳細資訊 |
| NF2 | NM_000268.4 | c.1140_1141del | NA23163 | 詳細資訊 |
| NOTCH3 | NM_000435.2 | c.1630C>T | 546089 | 詳細資訊 |
| NPC1 | NM_000271.5 | c.813_815del | 449503 | 詳細資訊 |
| NR2F1 | NM_005654.6 | c.2T>C | 279855 | 詳細資訊 |
| NSD1 | NM_022455.4 | c.5374G>A | 2584511 | 詳細資訊 |
| NTRK1 | NM_001012331.1 | c.287+2dup | 859211 | 詳細資訊 |
| OPA1 | NM_130837.2 | c.1549A>C | 432153 | 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 |
| P4HA2 | NM_001017974.1 | c.871G>A | 372165 | 詳細資訊 |
| PACS2 | NM_001100913.2 | c.625G>A | 495141 | 詳細資訊 |
| PAH | NM_000277.3 | c.912+1G>A | 92752 | 詳細資訊 |
| PCCA | NM_000282.4 | c.1593_1595del | 554477 | 詳細資訊 |
| PDE11A | NM_016953.4 | c.2268_2272delGTCCT | 225431 | 詳細資訊 |
| PEX1 | NM_000466.2 | c.643_647del | 188897 | 詳細資訊 |
| PFKM | NM_000289.5 | c.1062+1G>A | 2153847 | 詳細資訊 |
| PHF6 | NM_001015877.2 | c.2T>C | 11068 | 詳細資訊 |
| PIGN | NM_176787.4 | c.963G>A | 101048 | 詳細資訊 |
| PIGT | NM_015937.5 | c.835C>T | 660514 | 詳細資訊 |
| PIK3R2 | NM_005027.3 | c.1117G>A | 39808 | 詳細資訊 |
| PLA2G6 | NM_003560.4 | c.1077G>A | 279875 | 詳細資訊 |
| PLEC | NM_201378.3 | c.6868C>T | 620547 | 詳細資訊 |
| PMM2 | NM_000303.2 | c.458_462del | 1072868 | 詳細資訊 |
| POMGNT1 | NM_017739.3 | c.478del | 371543 | 詳細資訊 |
| PPP2R5D | NM_006245.3 | c.619T>C | 280435 | 詳細資訊 |
| PROM1 | NM_006017.2 | c.1117C>T | 5610 | 詳細資訊 |
| PRRT2 | NM_145239.2 | c.649dup | 65758 | 詳細資訊 |
| PTEN | NM_000314.8 | c.781C>T | 183073 | 詳細資訊 |
| PTS | NM_000317.3 | c.259C>T | 480 | 詳細資訊 |
| RCBTB1 | NM_018191.4 | c.170delG | 840798 | 詳細資訊 |
| RDH12 | NM_152443.2 | c.505C>G | 1516047 | 詳細資訊 |
| RDH5 | NM_002905.3 | c.285G>A | 208608 | 詳細資訊 |
| RHO | NM_000539.3 | c.1040C>T | 13014 | 詳細資訊 |
| RNF216 | NM_207111.3 | c.1616A>G | 199656 | 詳細資訊 |
| RPE65 | NM_000329.3 | c.1404_1413delAGAACCCATC | 1066044 | 詳細資訊 |
| RPGR | NM_001034853.1 | c.2237_2238del | 1687189 | 詳細資訊 |
| RTTN | NM_173630.4 | c.4032+5G>A | 2441768 | 詳細資訊 |
| RYR1 | NM_000540.3 | c.1201C>T | 133029 | 詳細資訊 |
| SALL1 | NM_002968.2 | c.826C>T | 7428 | 詳細資訊 |
| SCN2A | NM_001040142.2 | c.1412C>G | 1700159 | 詳細資訊 |
| SCN4A | NM_000334.4 | c.4388G>A | 642244 | 詳細資訊 |
| SCN5A | NM_000335.4 | c.845G>A | 68048 | 詳細資訊 |
| SCN9A | NM_002977.3 | c.640C>T | 471161 | 詳細資訊 |
| SELENON | NM_020451.2 | c.1406G>A | 461629 | 詳細資訊 |
| SLC12A3 | NM_001126108.1 | c.179C>T | 101514 | 詳細資訊 |
| SLC22A5 | NM_003060.3 | c.760C>T | 25376 | 詳細資訊 |
| SLC25A13 | NM_014251.3 | c.1638_1660dup | 6003 | 詳細資訊 |
| SLC25A4 | NM_001151.4 | c.523del | 215174 | 詳細資訊 |
| SLC4A1 | NM_000342.3 | c.1766G>A | 17763 | 詳細資訊 |
| SNCB | NM_003085.4 | c.208G>A | 7025 | 詳細資訊 |
| SPATA7 | NM_018418.5 | c.1183C>T | 1397 | 詳細資訊 |
| SUOX | NM_000456.2 | c.1200C>G | 619593 | 詳細資訊 |
| TBC1D24 | NM_001199107.1 | c.1499C>T | 419296 | 詳細資訊 |
| TCAP | NM_003673.3 | c.26_33dup | 448649 | 詳細資訊 |
| TCF4 | NM_001083962.1 | c.1841C>T | 581714 | 詳細資訊 |
| TG | NM_003235.4 | c.1348del | 2735215 | 詳細資訊 |
| TGM6 | NM_198994.3 | c.331C>T | 190253 | 詳細資訊 |
| TH | NM_199292.2 | c.943G>A | 558576 | 詳細資訊 |
| TMEM126B | NM_018480.7 | c.318_319delAT | 1032805 | 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 |
| TTLL5 | NM_015072.5 | c.3174_3177delAACA | 845763 | 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 |
| TULP1 | NM_003322.6 | c.187G>T | 1065768 | 詳細資訊 |
| TYR | NM_000372.5 | c.1467dup | 3803 | 詳細資訊 |
| USH2A | NM_206933.2 | c.4576G>A | 867207 | 詳細資訊 |
| VPS13A | NM_033305.2 | c.8035+1G>A | 1487153 | 詳細資訊 |
| WDR45 | NM_001029896.1 | c.697C>T | 41912 | 詳細資訊 |
| WFS1 | NM_006005.3 | c.1999C>T | 598973 | 詳細資訊 |
| ZFYVE26 | NM_015346.3 | c.274-2A>G | 558669 | 詳細資訊 |
| ZNF644 | NM_201269.2 | c.1759A>G | 31108 | 詳細資訊 |