| Panel naam | NGS Metabole aandoeningen |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | AUMC_Metaboolv1 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (723) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AASS | C | 99.99 | 100.00 | NM_005763.4 | |
| ABAT | C | 100.00 | 100.00 | NM_020686.6 | |
| ABCC8 | C | 100.00 | 100.00 | NM_000352.6 | |
| ABCD1 | C | 99.99 | 100.00 | NM_000033.4 | |
| ABCD2 | C | 100.00 | 100.00 | NM_005164.4 | |
| ABCD3 | C | 99.27 | 99.9 | NM_002858.4 | |
| ABCD4 | C | 100.00 | 100.00 | NM_005050.4 | |
| ABCG5 | C | 100.00 | 100.00 | NM_022436.3 | |
| ABCG8 | C | 99.98 | 100.00 | NM_022437.3 | |
| ABHD12 | C | 100.00 | 100.00 | NM_001042472.3 | |
| ABHD5 | C | 100.00 | 100.00 | NM_016006.6 | |
| ACACA | C | 8.44 | 9.83 | NM_198834.3 | |
| ACAD8 | C | 99.99 | 100.00 | NM_014384.3 | |
| ACAD9 | C | 99.97 | 100.00 | NM_014049.5 | |
| ACADM | C | 99.71 | 100.00 | NM_000016.6 | |
| ACADS | C | 100.00 | 100.00 | NM_000017.4 | |
| ACADSB | C | 100.00 | 100.00 | NM_001609.4 | |
| ACADVL | C | 100.00 | 100.00 | NM_000018.4 | |
| ACAT1 | C | 100.00 | 100.00 | NM_000019.4 | |
| ACAT2 | C | 100.00 | 100.00 | NM_005891.3 | |
| ACBD5 | C | 100.00 | 100.00 | NM_145698.5 | |
| ACO2 | C | 100.00 | 100.00 | NM_001098.3 | |
| ACOX1 | C | 100.00 | 100.00 | NM_004035.7 | |
| ACOX2 | C | 99.99 | 100.00 | NM_003500.4 | |
| ACSF3 | C | 100.00 | 100.00 | NM_001243279.3 | |
| ACSL4 | C | 99.89 | 99.99 | NM_001318510.2 | |
| ACY1 | C | 100.00 | 100.00 | NM_000666.3 | |
| ADA | C | 100.00 | 100.00 | NM_000022.4 | |
| ADCK5 | C | 100.00 | 100.00 | NM_174922.5 | |
| ADCY5 | C | 99.39 | 99.82 | NM_183357.3 | |
| ADK | C | 99.9 | 100.00 | NM_006721.4 | |
| ADSL | C | 100.00 | 100.00 | NM_000026.4 | |
| AGA | C | 100.00 | 100.00 | NM_000027.4 | |
| AGK | C | 100.00 | 100.00 | NM_018238.4 | |
| AGL | C | 99.78 | 99.97 | NM_000642.3 | |
| AGPAT2 | C | 100.00 | 100.00 | NM_006412.4 | |
| AGPS | C | 100.00 | 100.00 | NM_003659.4 | |
| AGXT | C | 100.00 | 100.00 | NM_000030.3 | |
| AHCY | C | 100.00 | 100.00 | NM_000687.4 | |
| AK1 | C | 100.00 | 100.00 | NM_000476.3 | |
| AK2 | C | 98.19 | 99.79 | NM_001625.4 | |
| AKR1C1 | C | 90.64 | 91.05 | NM_001353.6 | |
| AKR1D1 | C | 100.00 | 100.00 | NM_005989.4 | |
| ALAD | C | 100.00 | 100.00 | NM_000031.6 | |
| ALAS2 | C | 100.00 | 100.00 | NM_000032.5 | |
| ALDH18A1 | C | 100.00 | 100.00 | NM_002860.4 | |
| ALDH1A3 | C | 100.00 | 100.00 | NM_000693.4 | |
| ALDH2 | C | 100.00 | 100.00 | NM_000690.4 | |
| ALDH3A2 | C | 99.98 | 100.00 | NM_000382.3 | |
| ALDH4A1 | C | 97.08 | 99.2 | NM_003748.4 | |
| ALDH5A1 | C | 99.93 | 100.00 | NM_001080.3 | |
| ALDH6A1 | C | 100.00 | 100.00 | NM_005589.4 | |
| ALDH7A1 | C | 99.98 | 100.00 | NM_001182.5 | |
| ALDOA | C | 100.00 | 100.00 | NM_001243177.4 | |
| ALDOB | C | 100.00 | 100.00 | NM_000035.4 | |
| ALG1 | C | 86.66 | 86.67 | NM_019109.5 | |
| ALG10 | C | 100.00 | 100.00 | NM_032834.4 | |
| ALG11 | C | 100.00 | 100.00 | NM_001004127.3 | |
| ALG12 | C | 100.00 | 100.00 | NM_024105.4 | |
| ALG13 | C | 99.42 | 99.92 | NM_001099922.3 | |
| ALG14 | C | 99.94 | 100.00 | NM_144988.4 | |
| ALG2 | C | 100.00 | 100.00 | NM_033087.4 | |
| ALG3 | C | 100.00 | 100.00 | NM_005787.6 | |
| ALG6 | C | 99.57 | 99.99 | NM_013339.4 | |
| ALG8 | C | 100.00 | 100.00 | NM_024079.5 | |
| ALG9 | C | 99.97 | 100.00 | NM_024740.2 | |
| ALOX12B | C | 100.00 | 100.00 | NM_001139.3 | |
| ALPL | C | 99.97 | 100.00 | NM_000478.6 | |
| AMACR | C | 100.00 | 100.00 | NM_014324.6 | |
| AMN | C | 100.00 | 100.00 | NM_030943.4 | |
| AMPD1 | C | 99.95 | 100.00 | NM_000036.3 | |
| AMPD3 | C | 100.00 | 100.00 | NM_001025389.2 | |
| AMT | C | 100.00 | 100.00 | NM_000481.4 | |
| AP1S1 | C | 98.68 | 99.7 | NM_001283.5 | |
| AP3B2 | C | 100.00 | 100.00 | NM_001278512.2 | |
| APOA5 | C | 100.00 | 100.00 | NM_001371904.1 | |
| APOC2 | C | 100.00 | 100.00 | NM_000483.5 | |
| APRT | C | 100.00 | 100.00 | NM_000485.3 | |
| ARG1 | C | 100.00 | 100.00 | NM_000045.4 | |
| ARSA | C | 100.00 | 100.00 | NM_000487.6 | |
| ARSB | C | 100.00 | 100.00 | NM_000046.5 | |
| ASAH1 | C | 100.00 | 100.00 | NM_177924.5 | |
| ASL | C | 100.00 | 100.00 | NM_000048.4 | |
| ASNS | C | 99.99 | 100.00 | NM_001673.5 | |
| ASPA | C | 100.00 | 100.00 | NM_000049.4 | |
| ASS1 | C | 77.95 | 77.95 | NM_054012.4 | |
| ATIC | C | 100.00 | 100.00 | NM_004044.7 | |
| ATP1A1 | C | 99.18 | 99.5 | NM_000701.8 | |
| ATP6AP1 | C | 100.00 | 100.00 | NM_001183.6 | |
| ATP6AP2 | C | 99.95 | 100.00 | NM_005765.3 | |
| ATP6V0A2 | C | 100.00 | 100.00 | NM_012463.4 | |
| ATP6V1A | C | 99.96 | 100.00 | NM_001690.4 | |
| ATP6V1E1 | C | 100.00 | 100.00 | NM_001696.4 | |
| ATP7A | C | 99.97 | 99.99 | NM_000052.7 | |
| ATP7B | C | 100.00 | 100.00 | NM_000053.4 | |
| ATP8B1 | C | 100.00 | 100.00 | NM_001374385.1 | |
| AUH | C | 100.00 | 100.00 | NM_001698.3 | |
| B3GALNT1 | C | 100.00 | 100.00 | NM_003781.4 | |
| B3GALNT2 | C | 99.88 | 99.99 | NM_152490.5 | |
| B3GALT6 | C | 94.88 | 97.94 | NM_080605.4 | |
| B3GAT3 | C | 100.00 | 100.00 | NM_012200.4 | |
| B3GLCT | C | 99.95 | 99.97 | NM_194318.4 | |
| B4GALT1 | C | 100.00 | 100.00 | NM_001497.4 | |
| B4GALT7 | C | 99.99 | 100.00 | NM_007255.3 | |
| B4GAT1 | C | 100.00 | 100.00 | NM_006876.3 | |
| BAAT | C | 100.00 | 100.00 | NM_001701.4 | |
| BCAT1 | C | 100.00 | 100.00 | NM_005504.7 | |
| BCAT2 | C | 99.95 | 100.00 | NM_001190.4 | |
| BCKDHA | C | 100.00 | 100.00 | NM_000709.4 | |
| BCKDHB | C | 100.00 | 100.00 | NM_183050.4 | |
| BCKDK | C | 100.00 | 100.00 | NM_005881.4 | |
| BCO1 | C | 100.00 | 100.00 | NM_017429.3 | |
| BLVRA | C | 100.00 | 100.00 | NM_000712.4 | |
| BMP2 | C | 100.00 | 100.00 | NM_001200.4 | |
| BPGM | C | 100.00 | 100.00 | NM_001724.5 | |
| BPNT2 | C | 100.00 | 100.00 | NM_017813.5 | |
| BSCL2 | C | 100.00 | 100.00 | NM_001122955.4 | |
| BTD | C | 100.00 | 100.00 | NM_001370658.1 | |
| C1GALT1C1 | C | 100.00 | 100.00 | NM_001011551.3 | |
| C2orf69 | C | 100.00 | 100.00 | NM_153689.6 | |
| CA5A | C | 99.89 | 100.00 | NM_001739.2 | |
| CAD | C | 99.9 | 100.00 | NM_004341.5 | |
| CANT1 | C | 100.00 | 100.00 | NM_001159773.2 | |
| CAT | C | 100.00 | 100.00 | NM_001752.4 | |
| CAV1 | C | 100.00 | 100.00 | NM_001753.5 | |
| CAVIN1 | C | 100.00 | 100.00 | NM_012232.6 | |
| CBLIF | C | 100.00 | 100.00 | NM_005142.3 | |
| CBS | C | 100.00 | 100.00 | NM_000071.3 | |
| CCDC115 | C | 99.9 | 100.00 | NM_032357.4 | |
| CD320 | C | 100.00 | 100.00 | NM_016579.4 | |
| CEL | C | 91.64 | 94.67 | NM_001807.6 | |
| CERKL | C | 100.00 | 100.00 | NM_201548.5 | |
| CERS3 | C | 99.91 | 99.98 | NM_001378789.1 | |
| CFTR | C | 99.99 | 100.00 | NM_000492.4 | |
| CHIT1 | C | 100.00 | 100.00 | NM_003465.3 | |
| CHKB | C | 100.00 | 100.00 | NM_005198.5 | |
| CHST14 | C | 100.00 | 100.00 | NM_130468.4 | |
| CHST3 | C | 100.00 | 100.00 | NM_004273.5 | |
| CHST6 | C | 100.00 | 100.00 | NM_021615.5 | |
| CHSY1 | C | 98.96 | 99.47 | NM_014918.5 | |
| CIDEC | C | 100.00 | 100.00 | NM_001321142.2 | |
| CLCN7 | C | 100.00 | 100.00 | NM_001287.6 | |
| CLN3 | C | 99.96 | 100.00 | NM_001042432.2 | |
| CLN5 | C | 100.00 | 100.00 | NM_006493.4 | |
| CLN6 | C | 100.00 | 100.00 | NM_017882.3 | |
| CLN8 | C | 100.00 | 100.00 | NM_018941.4 | |
| CLPB | C | 100.00 | 100.00 | NM_001258392.3 | |
| CMAS | C | 100.00 | 100.00 | NM_018686.6 | |
| COG1 | C | 100.00 | 100.00 | NM_018714.3 | |
| COG2 | C | 99.82 | 99.99 | NM_007357.3 | |
| COG4 | C | 100.00 | 100.00 | NM_015386.3 | |
| COG5 | C | 100.00 | 100.00 | NM_006348.5 | |
| COG6 | C | 99.99 | 100.00 | NM_020751.3 | |
| COG7 | C | 99.96 | 100.00 | NM_153603.4 | |
| COG8 | C | 100.00 | 100.00 | NM_032382.5 | |
| COMT | C | 99.82 | 100.00 | NM_000754.4 | |
| COQ2 | C | 100.00 | 100.00 | NM_001358921.2 | |
| COQ4 | C | 100.00 | 100.00 | NM_016035.5 | |
| COQ5 | C | 100.00 | 100.00 | NM_032314.4 | |
| COQ6 | C | 100.00 | 100.00 | NM_182476.3 | |
| COQ7 | C | 99.8 | 99.93 | NM_016138.5 | |
| COQ8A | C | 100.00 | 100.00 | NM_020247.5 | |
| COQ8B | C | 100.00 | 100.00 | NM_024876.4 | |
| COQ9 | C | 99.07 | 99.86 | NM_020312.4 | |
| CP | C | 100.00 | 100.00 | NM_000096.4 | |
| CPOX | C | 100.00 | 100.00 | NM_000097.7 | |
| CPS1 | C | 99.98 | 100.00 | NM_001875.5 | |
| CPT1A | C | 100.00 | 100.00 | NM_001876.4 | |
| CPT2 | C | 100.00 | 100.00 | NM_000098.3 | |
| CRAT | C | 100.00 | 100.00 | NM_000755.5 | |
| CRPPA | C | 100.00 | 100.00 | NM_001101426.4 | |
| CTH | C | 99.14 | 99.98 | NM_001902.6 | |
| CTNS | C | 99.94 | 99.99 | NM_004937.3 | |
| CTSA | C | 100.00 | 100.00 | NM_000308.4 | |
| CTSC | C | 100.00 | 100.00 | NM_001814.6 | |
| CTSD | C | 100.00 | 100.00 | NM_001909.5 | |
| CTSK | C | 99.99 | 100.00 | NM_000396.4 | |
| CUBN | C | 100.00 | 100.00 | NM_001081.4 | |
| CYB561 | C | 100.00 | 100.00 | NM_001915.4 | |
| CYB5R3 | C | 99.92 | 99.97 | NM_000398.7 | |
| CYP11A1 | C | 100.00 | 100.00 | NM_000781.3 | |
| CYP11B1 | C | 100.00 | 100.00 | NM_000497.4 | |
| CYP11B2 | C | 100.00 | 100.00 | NM_000498.3 | |
| CYP17A1 | C | 100.00 | 100.00 | NM_000102.4 | |
| CYP19A1 | C | 100.00 | 100.00 | NM_000103.4 | |
| CYP1B1 | C | 100.00 | 100.00 | NM_000104.3 | |
| CYP21A2 | C | 99.94 | 99.99 | NM_000500.9 | |
| CYP27A1 | C | 100.00 | 100.00 | NM_000784.4 | |
| CYP27B1 | C | 99.9 | 100.00 | NM_000785.4 | |
| CYP2R1 | C | 100.00 | 100.00 | NM_024514.5 | |
| CYP2U1 | C | 100.00 | 100.00 | NM_183075.3 | |
| CYP7B1 | C | 100.00 | 100.00 | NM_004820.5 | |
| D2HGDH | C | 100.00 | 100.00 | NM_152783.5 | |
| DAO | C | 100.00 | 100.00 | NM_001917.5 | |
| DBH | C | 100.00 | 100.00 | NM_000787.4 | |
| DBT | C | 99.79 | 99.99 | NM_001918.5 | |
| DCXR | C | 100.00 | 100.00 | NM_016286.4 | |
| DDC | C | 100.00 | 100.00 | NM_001082971.2 | |
| DDHD1 | C | 100.00 | 100.00 | NM_001160148.2 | |
| DDOST | C | 99.98 | 100.00 | NM_005216.5 | |
| DEGS1 | C | 100.00 | 100.00 | NM_003676.4 | |
| DGAT1 | C | 100.00 | 100.00 | NM_012079.6 | |
| DGKE | C | 100.00 | 100.00 | NM_003647.3 | |
| DGUOK | C | 100.00 | 100.00 | NM_080916.3 | |
| DHCR24 | C | 100.00 | 100.00 | NM_014762.4 | |
| DHCR7 | C | 100.00 | 100.00 | NM_001360.3 | |
| DHDDS | C | 99.06 | 99.92 | NM_205861.3 | |
| DHFR | C | 99.97 | 100.00 | NM_000791.4 | |
| DHODH | C | 100.00 | 100.00 | NM_001361.5 | |
| DLD | C | 100.00 | 100.00 | NM_000108.5 | |
| DMGDH | C | 100.00 | 100.00 | NM_013391.3 | |
| DNAJC12 | C | 100.00 | 100.00 | NM_021800.3 | |
| DNAJC19 | C | 100.00 | 100.00 | NM_145261.4 | |
| DNM1L | C | 99.96 | 100.00 | NM_012062.5 | |
| DNM2 | C | 100.00 | 100.00 | NM_001005361.3 | |
| DNMT1 | C | 99.03 | 99.35 | NM_001130823.3 | |
| DNMT3B | C | 100.00 | 100.00 | NM_006892.4 | |
| DOLK | C | 100.00 | 100.00 | NM_014908.4 | |
| DPAGT1 | C | 100.00 | 100.00 | NM_001382.4 | |
| DPM1 | C | 100.00 | 100.00 | NM_003859.3 | |
| DPM2 | C | 100.00 | 100.00 | NM_003863.4 | |
| DPM3 | C | 100.00 | 100.00 | NM_153741.2 | |
| DPYD | C | 99.14 | 99.89 | NM_000110.3 | |
| DPYS | C | 100.00 | 100.00 | NM_001385.3 | |
| DTYMK | C | 100.00 | 100.00 | NM_012145.4 | |
| EBP | C | 100.00 | 100.00 | NM_006579.3 | |
| ECHS1 | C | 100.00 | 100.00 | NM_004092.4 | |
| EDEM3 | C | 99.83 | 99.97 | NM_025191.4 | |
| ELOVL1 | C | 100.00 | 100.00 | NM_022821.4 | |
| ELOVL4 | C | 99.99 | 100.00 | NM_022726.4 | |
| ENO3 | C | 100.00 | 100.00 | NM_053013.4 | |
| EOGT | C | 99.75 | 99.98 | NM_001278689.2 | |
| EPG5 | C | 100.00 | 100.00 | NM_020964.3 | |
| EPHX1 | C | 100.00 | 100.00 | NM_001136018.4 | |
| EPHX2 | C | 100.00 | 100.00 | NM_001979.6 | |
| ETFA | C | 99.91 | 99.94 | NM_000126.4 | |
| ETFB | C | 100.00 | 100.00 | NM_001985.3 | |
| ETFDH | C | 100.00 | 100.00 | NM_004453.4 | |
| ETHE1 | C | 85.1 | 85.1 | NM_014297.5 | |
| EXT1 | C | 100.00 | 100.00 | NM_000127.3 | |
| EXT2 | C | 100.00 | 100.00 | NM_207122.2 | |
| EYA1 | C | 99.99 | 100.00 | NM_000503.6 | |
| FA2H | C | 100.00 | 100.00 | NM_024306.5 | |
| FAH | C | 100.00 | 100.00 | NM_000137.4 | |
| FAR1 | C | 100.00 | 100.00 | NM_032228.6 | |
| FBN1 | C | 99.96 | 99.99 | NM_000138.4 | |
| FBP1 | C | 100.00 | 100.00 | NM_000507.4 | |
| FBP2 | C | 100.00 | 100.00 | NM_003837.4 | |
| FCSK | C | 100.00 | 100.00 | NM_145059.3 | |
| FDFT1 | C | 100.00 | 100.00 | NM_004462.5 | |
| FECH | C | 100.00 | 100.00 | NM_000140.5 | |
| FH | C | 100.00 | 100.00 | NM_000143.4 | |
| FKRP | C | 100.00 | 100.00 | NM_024301.5 | |
| FKTN | C | 100.00 | 100.00 | NM_001079802.2 | |
| FLAD1 | C | 100.00 | 100.00 | NM_025207.5 | |
| FMO3 | C | 100.00 | 100.00 | NM_001002294.3 | |
| FOLR1 | C | 100.00 | 100.00 | NM_016729.3 | |
| FTCD | C | 100.00 | 100.00 | NM_206965.2 | |
| FUCA1 | C | 99.38 | 99.99 | NM_000147.5 | |
| FUT2 | C | 100.00 | 100.00 | NM_000511.6 | |
| FUT6 | C | 100.00 | 100.00 | NM_000150.4 | |
| FUT8 | C | 100.00 | 100.00 | NM_001371533.1 | |
| G6PC1 | C | 100.00 | 100.00 | NM_000151.4 | |
| G6PC3 | C | 100.00 | 100.00 | NM_138387.4 | |
| G6PD | C | 100.00 | 100.00 | NM_001360016.2 | |
| GAA | C | 100.00 | 100.00 | NM_000152.5 | |
| GAD1 | C | 100.00 | 100.00 | NM_000817.3 | |
| GALC | C | 99.99 | 100.00 | NM_000153.4 | |
| GALE | C | 99.94 | 100.00 | NM_001008216.2 | |
| GALK1 | C | 100.00 | 100.00 | NM_000154.2 | |
| GALM | C | 100.00 | 100.00 | NM_138801.3 | |
| GALNS | C | 100.00 | 100.00 | NM_000512.5 | |
| GALNT2 | C | 97.88 | 99.47 | NM_004481.5 | |
| GALNT3 | C | 99.99 | 100.00 | NM_004482.4 | |
| GALT | C | 100.00 | 100.00 | NM_000155.4 | |
| GAMT | C | 100.00 | 100.00 | NM_000156.6 | |
| GANAB | C | 100.00 | 100.00 | NM_198334.3 | |
| GATM | C | 100.00 | 100.00 | NM_001482.3 | |
| GBA1 | C | ||||
| GBA2 | C | 100.00 | 100.00 | NM_020944.3 | |
| GBE1 | C | 100.00 | 100.00 | NM_000158.4 | |
| GCDH | C | 100.00 | 100.00 | NM_000159.4 | |
| GCH1 | C | 99.96 | 99.99 | NM_000161.3 | |
| GCK | C | 100.00 | 100.00 | NM_000162.5 | |
| GCLC | C | 100.00 | 100.00 | NM_001498.4 | |
| GCLM | C | 99.07 | 99.99 | NM_002061.4 | |
| GCSH | C | 100.00 | 100.00 | NM_004483.5 | |
| GFPT1 | C | 100.00 | 100.00 | NM_001244710.2 | |
| GGPS1 | C | 100.00 | 100.00 | NM_004837.4 | |
| GK | C | 99.91 | 100.00 | NM_001205019.2 | |
| GLA | C | 100.00 | 100.00 | NM_000169.3 | |
| GLB1 | C | 100.00 | 100.00 | NM_000404.4 | |
| GLDC | C | 100.00 | 100.00 | NM_000170.3 | |
| GLRA1 | C | 100.00 | 100.00 | NM_000171.4 | |
| GLRX5 | C | 99.89 | 100.00 | NM_016417.3 | |
| GLS | C | 99.89 | 99.96 | NM_014905.5 | |
| GLUD1 | C | 100.00 | 100.00 | NM_005271.5 | |
| GLUL | C | 100.00 | 100.00 | NM_001033044.4 | |
| GLYCTK | C | 100.00 | 100.00 | NM_145262.4 | |
| GM2A | C | 100.00 | 100.00 | NM_000405.5 | |
| GMPPA | C | 100.00 | 100.00 | NM_013335.4 | |
| GMPPB | C | 100.00 | 100.00 | NM_021971.4 | |
| GMPS | C | 99.99 | 100.00 | NM_003875.3 | |
| GNE | C | 100.00 | 100.00 | NM_005476.7 | |
| GNMT | C | 99.99 | 100.00 | NM_018960.6 | |
| GNPAT | C | 100.00 | 100.00 | NM_014236.4 | |
| GNPTAB | C | 100.00 | 100.00 | NM_024312.5 | |
| GNPTG | C | 100.00 | 100.00 | NM_032520.5 | |
| GNS | C | 99.96 | 100.00 | NM_002076.4 | |
| GOT1 | C | 100.00 | 100.00 | NM_002079.3 | |
| GOT2 | C | 99.84 | 99.99 | NM_002080.4 | |
| GPD1 | C | 100.00 | 100.00 | NM_005276.4 | |
| GPD1L | C | 100.00 | 100.00 | NM_015141.4 | |
| GPHN | C | 99.99 | 100.00 | NM_020806.5 | |
| GPI | C | 100.00 | 100.00 | NM_000175.5 | |
| GPIHBP1 | C | 100.00 | 100.00 | NM_178172.6 | |
| GPT2 | C | 99.89 | 100.00 | NM_133443.4 | |
| GPX1 | C | 100.00 | 100.00 | NM_000581.4 | |
| GRHPR | C | 100.00 | 100.00 | NM_012203.2 | |
| GSS | C | 100.00 | 100.00 | NM_000178.4 | |
| GUSB | C | 95.49 | 95.49 | NM_000181.4 | |
| GYG1 | C | 100.00 | 100.00 | NM_004130.4 | |
| GYS1 | C | 100.00 | 100.00 | NM_002103.5 | |
| GYS2 | C | 100.00 | 100.00 | NM_021957.4 | |
| H6PD | C | 100.00 | 100.00 | NM_004285.4 | |
| HADH | C | 100.00 | 100.00 | NM_005327.7 | |
| HADHA | C | 100.00 | 100.00 | NM_000182.5 | |
| HADHB | C | 100.00 | 100.00 | NM_000183.3 | |
| HAGH | C | 99.65 | 99.83 | NM_005326.6 | |
| HEXA | C | 100.00 | 100.00 | NM_000520.6 | |
| HEXB | C | 99.99 | 100.00 | NM_000521.4 | |
| HFE | C | 100.00 | 100.00 | NM_000410.4 | |
| HGD | C | 100.00 | 100.00 | NM_000187.4 | |
| HGSNAT | C | 97.86 | 99.19 | NM_152419.3 | |
| HIBADH | C | 100.00 | 100.00 | NM_152740.4 | |
| HIBCH | C | 99.82 | 100.00 | NM_014362.4 | |
| HK1 | C | 99.83 | 100.00 | NM_000188.3 | |
| HLCS | C | 99.99 | 100.00 | NM_001352514.2 | |
| HMBS | C | 100.00 | 100.00 | NM_000190.4 | |
| HMGCL | C | 99.63 | 99.98 | NM_000191.3 | |
| HMGCS2 | C | 99.69 | 100.00 | NM_005518.4 | |
| HMOX1 | C | 100.00 | 100.00 | NM_002133.3 | |
| HNF1A | C | 100.00 | 100.00 | NM_000545.8 | |
| HNF4A | C | 100.00 | 100.00 | NM_175914.5 | |
| HOGA1 | C | 100.00 | 100.00 | NM_138413.4 | |
| HPD | C | 100.00 | 100.00 | NM_002150.3 | |
| HPDL | C | 100.00 | 100.00 | NM_032756.4 | |
| HPRT1 | C | 99.86 | 99.98 | NM_000194.3 | |
| HS6ST1 | C | 99.74 | 99.97 | NM_004807.3 | |
| HSD11B1 | C | 100.00 | 100.00 | NM_005525.4 | |
| HSD11B2 | C | 99.94 | 100.00 | NM_000196.4 | |
| HSD17B10 | C | 100.00 | 100.00 | NM_004493.3 | |
| HSD17B3 | C | 99.99 | 100.00 | NM_000197.2 | |
| HSD17B4 | C | 99.99 | 100.00 | NM_000414.4 | |
| HSD3B2 | C | 100.00 | 100.00 | NM_000198.4 | |
| HSD3B7 | C | 100.00 | 100.00 | NM_025193.4 | |
| HTRA2 | C | 100.00 | 100.00 | NM_013247.5 | |
| HYAL1 | C | 100.00 | 100.00 | NM_033159.4 | |
| IDH2 | C | 100.00 | 100.00 | NM_002168.4 | |
| IDH3B | C | 100.00 | 100.00 | NM_006899.5 | |
| IDI1 | C | 99.97 | 100.00 | NM_004508.4 | |
| IDS | C | 99.95 | 100.00 | NM_000202.8 | |
| IDUA | C | 100.00 | 100.00 | NM_000203.5 | |
| IMPDH1 | C | 91.01 | 93.4 | NM_000883.4 | |
| INPP5E | C | 100.00 | 100.00 | NM_019892.6 | |
| INPPL1 | C | 99.99 | 100.00 | NM_001567.4 | |
| INSR | C | 99.97 | 99.97 | NM_000208.4 | |
| IREB2 | C | 100.00 | 100.00 | NM_004136.4 | |
| ITCH | C | 100.00 | 100.00 | NM_031483.7 | |
| ITPA | C | 100.00 | 100.00 | NM_033453.4 | |
| IVD | C | 100.00 | 100.00 | NM_002225.5 | |
| KCNA2 | C | 100.00 | 100.00 | NM_004974.4 | |
| KCNJ11 | C | 100.00 | 100.00 | NM_000525.4 | |
| KMT2A | C | 99.96 | 100.00 | NM_001197104.2 | |
| KMT2D | C | 99.99 | 100.00 | NM_003482.4 | |
| L2HGDH | C | 100.00 | 100.00 | NM_024884.3 | |
| LAMP2 | C | 99.99 | 100.00 | NM_002294.3 | |
| LARGE1 | C | 100.00 | 100.00 | NM_133642.5 | |
| LCAT | C | 100.00 | 100.00 | NM_000229.2 | |
| LCT | C | 100.00 | 100.00 | NM_002299.4 | |
| LDHA | C | 100.00 | 100.00 | NM_005566.4 | |
| LDHB | C | 100.00 | 100.00 | NM_002300.8 | |
| LFNG | C | 93.55 | 96.82 | NM_001040167.2 | |
| LIAS | C | 100.00 | 100.00 | NM_006859.4 | |
| LIPA | C | 100.00 | 100.00 | NM_000235.4 | |
| LIPC | C | 100.00 | 100.00 | NM_000236.3 | |
| LIPE | C | 100.00 | 100.00 | NM_005357.4 | |
| LIPT1 | C | 100.00 | 100.00 | NM_145199.3 | |
| LIPT2 | C | 100.00 | 100.00 | NM_001144869.3 | |
| LMBRD1 | C | 99.93 | 100.00 | NM_018368.4 | |
| LMF1 | C | 100.00 | 100.00 | NM_022773.4 | |
| LMNA | C | 99.95 | 100.00 | NM_170707.4 | |
| LMNB2 | C | 99.31 | 99.7 | NM_032737.4 | |
| LPIN1 | C | 100.00 | 100.00 | NM_001349206.2 | |
| LPIN2 | C | 100.00 | 100.00 | NM_001375808.2 | |
| LPL | C | 100.00 | 100.00 | NM_000237.3 | |
| LRAT | C | 100.00 | 100.00 | NM_004744.5 | |
| LTC4S | C | 100.00 | 100.00 | NM_145867.2 | |
| LYST | C | 100.00 | 100.00 | NM_000081.4 | |
| MAN1B1 | C | 99.89 | 100.00 | NM_016219.5 | |
| MAN2B1 | C | 99.99 | 100.00 | NM_000528.4 | |
| MAN2B2 | C | 99.99 | 100.00 | NM_015274.3 | |
| MANBA | C | 100.00 | 100.00 | NM_005908.4 | |
| MAOA | C | 100.00 | 100.00 | NM_000240.4 | |
| MAT1A | C | 99.98 | 100.00 | NM_000429.3 | |
| MBOAT7 | C | 100.00 | 100.00 | NM_024298.5 | |
| MCCC1 | C | 99.98 | 100.00 | NM_020166.5 | |
| MCCC2 | C | 100.00 | 100.00 | NM_022132.5 | |
| MCEE | C | 100.00 | 100.00 | NM_032601.4 | |
| MCOLN1 | C | 99.95 | 99.95 | NM_020533.3 | |
| MDH1 | C | 100.00 | 100.00 | NM_005917.4 | |
| MFSD2A | C | 99.89 | 99.95 | NM_032793.5 | |
| MFSD8 | C | 100.00 | 100.00 | NM_001371596.2 | |
| MGAT2 | C | 100.00 | 100.00 | NM_002408.4 | |
| MINPP1 | C | 100.00 | 100.00 | NM_004897.5 | |
| MLYCD | C | 100.00 | 100.00 | NM_012213.3 | |
| MMAA | C | 100.00 | 100.00 | NM_172250.3 | |
| MMAB | C | 100.00 | 100.00 | NM_052845.4 | |
| MMACHC | C | 100.00 | 100.00 | NM_015506.3 | |
| MMADHC | C | 100.00 | 100.00 | NM_015702.3 | |
| MMUT | C | 100.00 | 100.00 | NM_000255.4 | |
| MOCOS | C | 100.00 | 100.00 | NM_017947.4 | |
| MOCS1 | C | 100.00 | 100.00 | NM_001358530.2 | |
| MOCS2 | C | 100.00 | 100.00 | NM_004531.5 | |
| MOGS | C | 100.00 | 100.00 | NM_006302.3 | |
| MORC2 | C | 100.00 | 100.00 | NM_001303256.3 | |
| MPDU1 | C | 99.95 | 100.00 | NM_004870.4 | |
| MPI | C | 100.00 | 100.00 | NM_002435.3 | |
| MRPL44 | C | 100.00 | 100.00 | NM_022915.5 | |
| MRPS36 | C | 99.99 | 100.00 | NM_033281.6 | |
| MSMO1 | C | 100.00 | 100.00 | NM_006745.5 | |
| MTHFD1 | C | 100.00 | 100.00 | NM_005956.4 | |
| MTHFR | C | 100.00 | 100.00 | NM_005957.5 | |
| MTM1 | C | 100.00 | 100.00 | NM_000252.3 | |
| MTMR2 | C | 100.00 | 100.00 | NM_016156.6 | |
| MTR | C | 100.00 | 100.00 | NM_000254.3 | |
| MTRR | C | 100.00 | 100.00 | NM_002454.3 | |
| MVK | C | 100.00 | 100.00 | NM_000431.4 | |
| NADK2 | C | 95.8 | 98.82 | NM_001085411.3 | |
| NAGA | C | 100.00 | 100.00 | NM_000262.3 | |
| NAGLU | C | 99.95 | 100.00 | NM_000263.4 | |
| NAGS | C | 99.99 | 100.00 | NM_153006.3 | |
| NANS | C | 100.00 | 100.00 | NM_018946.4 | |
| NAXD | C | 100.00 | 100.00 | NM_001242882.2 | |
| NAXE | C | 100.00 | 100.00 | NM_144772.3 | |
| NBAS | C | 99.97 | 100.00 | NM_015909.4 | |
| NEU1 | C | 100.00 | 100.00 | NM_000434.4 | |
| NGLY1 | C | 100.00 | 100.00 | NM_018297.4 | |
| NMNAT1 | C | 100.00 | 100.00 | NM_022787.4 | |
| NNT | C | 100.00 | 100.00 | NM_182977.3 | |
| NPC1 | C | 100.00 | 100.00 | NM_000271.5 | |
| NPC2 | C | 100.00 | 100.00 | NM_006432.5 | |
| NPL | C | 100.00 | 100.00 | NM_030769.3 | |
| NSD1 | C | 100.00 | 100.00 | NM_022455.5 | |
| NSDHL | C | 100.00 | 100.00 | NM_015922.3 | |
| NT5C3A | C | 99.97 | 100.00 | NM_001002010.5 | |
| NT5E | C | 99.99 | 100.00 | NM_002526.4 | |
| NUS1 | C | 99.97 | 100.00 | NM_138459.5 | |
| OAT | C | 90.3 | 90.3 | NM_000274.4 | |
| OCRL | C | 100.00 | 100.00 | NM_000276.4 | |
| ODC1 | C | 100.00 | 100.00 | NM_002539.3 | |
| OGDH | C | 99.99 | 100.00 | NM_002541.4 | |
| OGDHL | C | 99.98 | 99.99 | NM_018245.3 | |
| OPA3 | C | 100.00 | 100.00 | NM_025136.4 | |
| OPLAH | C | 100.00 | 100.00 | NM_017570.5 | |
| OTC | C | 99.97 | 100.00 | NM_000531.6 | |
| OXCT1 | C | 99.97 | 100.00 | NM_000436.4 | |
| PAH | C | 100.00 | 100.00 | NM_000277.3 | |
| PANK2 | C | 100.00 | 100.00 | NM_001386393.1 | |
| PC | C | 100.00 | 100.00 | NM_001040716.2 | |
| PCBD1 | C | 99.85 | 99.88 | NM_000281.4 | |
| PCCA | C | 100.00 | 100.00 | NM_000282.4 | |
| PCCB | C | 100.00 | 100.00 | NM_000532.5 | |
| PCK1 | C | 100.00 | 100.00 | NM_002591.4 | |
| PCK2 | C | 100.00 | 100.00 | NM_004563.4 | |
| PCYT1A | C | 100.00 | 100.00 | NM_001312673.2 | |
| PCYT2 | C | 99.92 | 99.92 | NM_002861.5 | |
| PDSS1 | C | 96.86 | 96.86 | NM_014317.5 | |
| PDSS2 | C | 100.00 | 100.00 | NM_020381.4 | |
| PEPD | C | 99.98 | 100.00 | NM_000285.4 | |
| PEX1 | C | 99.92 | 99.99 | NM_000466.3 | |
| PEX10 | C | 100.00 | 100.00 | NM_002617.4 | |
| PEX11B | C | 98.42 | 99.96 | NM_003846.3 | |
| PEX12 | C | 100.00 | 100.00 | NM_000286.3 | |
| PEX13 | C | 100.00 | 100.00 | NM_002618.4 | |
| PEX14 | C | 99.94 | 99.99 | NM_004565.3 | |
| PEX16 | C | 100.00 | 100.00 | NM_004813.4 | |
| PEX19 | C | 99.87 | 100.00 | NM_002857.4 | |
| PEX2 | C | 100.00 | 100.00 | NM_000318.3 | |
| PEX26 | C | 100.00 | 100.00 | NM_001127649.3 | |
| PEX3 | C | 99.98 | 100.00 | NM_003630.3 | |
| PEX5 | C | 100.00 | 100.00 | NM_001351132.2 | |
| PEX6 | C | 100.00 | 100.00 | NM_000287.4 | |
| PEX7 | C | 100.00 | 100.00 | NM_000288.4 | |
| PFKM | C | 100.00 | 100.00 | NM_000289.6 | |
| PGAM2 | C | 100.00 | 100.00 | NM_000290.4 | |
| PGAP1 | C | 99.92 | 100.00 | NM_024989.4 | |
| PGAP2 | C | 100.00 | 100.00 | NM_014489.4 | |
| PGAP3 | C | 99.96 | 100.00 | NM_033419.5 | |
| PGK1 | C | 100.00 | 100.00 | NM_000291.4 | |
| PGM1 | C | 97.9 | 99.75 | NM_002633.3 | |
| PGM2L1 | C | 99.96 | 100.00 | NM_173582.6 | |
| PGM3 | C | 100.00 | 100.00 | NM_015599.3 | |
| PHGDH | C | 99.94 | 99.99 | NM_006623.4 | |
| PHKA1 | C | 99.97 | 99.98 | NM_002637.4 | |
| PHKA2 | C | 100.00 | 100.00 | NM_000292.3 | |
| PHKB | C | 99.96 | 99.98 | NM_000293.3 | |
| PHKG1 | C | 100.00 | 100.00 | NM_006213.5 | |
| PHKG2 | C | 99.98 | 100.00 | NM_000294.3 | |
| PHYH | C | 99.93 | 100.00 | NM_006214.4 | |
| PI4K2A | C | 100.00 | 100.00 | NM_018425.4 | |
| PIGA | C | 100.00 | 100.00 | NM_002641.4 | |
| PIGB | C | 99.96 | 100.00 | NM_004855.5 | |
| PIGC | C | 100.00 | 100.00 | NM_153747.2 | |
| PIGL | C | 100.00 | 100.00 | NM_004278.4 | |
| PIGM | C | 100.00 | 100.00 | NM_145167.3 | |
| PIGN | C | 99.98 | 100.00 | NM_176787.5 | |
| PIGO | C | 100.00 | 100.00 | NM_032634.4 | |
| PIGP | C | 100.00 | 100.00 | NM_153682.3 | |
| PIGQ | C | 100.00 | 100.00 | NM_004204.5 | |
| PIGT | C | 99.99 | 100.00 | NM_015937.6 | |
| PIGV | C | 100.00 | 100.00 | NM_017837.4 | |
| PIGW | C | 98.4 | 98.4 | NM_001346754.2 | |
| PIGY | C | 100.00 | 100.00 | NM_001042616.3 | |
| PIK3CA | C | 100.00 | 100.00 | NM_006218.4 | |
| PIK3R1 | C | 100.00 | 100.00 | NM_181523.3 | |
| PIK3R2 | C | 99.89 | 100.00 | NM_005027.4 | |
| PIK3R5 | C | 100.00 | 100.00 | NM_001142633.3 | |
| PIKFYVE | C | 100.00 | 100.00 | NM_015040.4 | |
| PIP5K1C | C | 99.9 | 99.99 | NM_012398.3 | |
| PKLR | C | 99.99 | 100.00 | NM_000298.6 | |
| PLA2G5 | C | 100.00 | 100.00 | NM_000929.3 | |
| PLA2G6 | C | 99.99 | 100.00 | NM_003560.4 | |
| PLA2G7 | C | 100.00 | 100.00 | NM_005084.4 | |
| PLCB1 | C | 100.00 | 100.00 | NM_015192.4 | |
| PLCB4 | C | 100.00 | 100.00 | NM_001377142.1 | |
| PLCD1 | C | 100.00 | 100.00 | NM_006225.4 | |
| PLCE1 | C | 100.00 | 100.00 | NM_016341.4 | |
| PLCG2 | C | 100.00 | 100.00 | NM_002661.5 | |
| PLIN1 | C | 99.99 | 100.00 | NM_002666.5 | |
| PLOD1 | C | 100.00 | 100.00 | NM_000302.4 | |
| PLOD2 | C | 99.93 | 100.00 | NM_182943.3 | |
| PLOD3 | C | 99.95 | 100.00 | NM_001084.5 | |
| PLPBP | C | 100.00 | 100.00 | NM_007198.4 | |
| PMM2 | C | 100.00 | 100.00 | NM_000303.3 | |
| PNLIP | C | 100.00 | 100.00 | NM_000936.4 | |
| PNMT | C | 99.53 | 100.00 | NM_002686.4 | |
| PNP | C | 100.00 | 100.00 | NM_000270.4 | |
| PNPLA2 | C | 100.00 | 100.00 | NM_020376.4 | |
| PNPLA6 | C | 100.00 | 100.00 | NM_001166114.2 | |
| PNPO | C | 100.00 | 100.00 | NM_018129.4 | |
| POFUT1 | C | 100.00 | 100.00 | NM_015352.2 | |
| POGLUT1 | C | 100.00 | 100.00 | NM_152305.3 | |
| POLD1 | C | 99.99 | 100.00 | NM_002691.4 | |
| POLR3A | C | 100.00 | 100.00 | NM_007055.4 | |
| POLR3B | C | 100.00 | 100.00 | NM_018082.6 | |
| POMGNT1 | C | 99.89 | 99.99 | NM_017739.4 | |
| POMGNT2 | C | 100.00 | 100.00 | NM_032806.6 | |
| POMK | C | 100.00 | 100.00 | NM_032237.5 | |
| POMT1 | C | 100.00 | 100.00 | NM_001077365.2 | |
| POMT2 | C | 100.00 | 100.00 | NM_013382.7 | |
| PPARG | C | 100.00 | 100.00 | NM_138711.6 | |
| PPCS | C | 99.98 | 100.00 | NM_024664.4 | |
| PPM1K | C | 100.00 | 100.00 | NM_152542.5 | |
| PPOX | C | 99.85 | 99.99 | NM_001122764.3 | |
| PPT1 | C | 98.74 | 99.94 | NM_000310.4 | |
| PRKAG2 | C | 100.00 | 100.00 | NM_016203.4 | |
| PRKCSH | C | 100.00 | 100.00 | NM_001289104.2 | |
| PRODH | C | 99.96 | 100.00 | NM_016335.6 | |
| PRPS1 | C | 100.00 | 100.00 | NM_002764.4 | |
| PSAP | C | 100.00 | 100.00 | NM_002778.4 | |
| PSAT1 | C | 100.00 | 100.00 | NM_058179.4 | |
| PSPH | C | 100.00 | 100.00 | NM_004577.4 | |
| PTEN | C | 100.00 | 100.00 | NM_000314.8 | |
| PTGIS | C | 100.00 | 100.00 | NM_000961.4 | |
| PTPN11 | C | 100.00 | 100.00 | NM_002834.5 | |
| PTS | C | 100.00 | 100.00 | NM_000317.3 | |
| PUS3 | C | 100.00 | 100.00 | NM_031307.4 | |
| PYCR1 | C | 100.00 | 100.00 | NM_006907.4 | |
| PYCR2 | C | 99.93 | 100.00 | NM_013328.4 | |
| PYGL | C | 100.00 | 100.00 | NM_002863.5 | |
| PYGM | C | 100.00 | 100.00 | NM_005609.4 | |
| QDPR | C | 100.00 | 100.00 | NM_000320.3 | |
| RBCK1 | C | 100.00 | 100.00 | NM_031229.4 | |
| RDH12 | C | 100.00 | 100.00 | NM_152443.3 | |
| RDH5 | C | 100.00 | 100.00 | NM_002905.5 | |
| RFT1 | C | 99.97 | 100.00 | NM_052859.4 | |
| RINT1 | C | 100.00 | 100.00 | NM_021930.6 | |
| RPE65 | C | 99.98 | 100.00 | NM_000329.3 | |
| RPIA | C | 99.85 | 100.00 | NM_144563.3 | |
| RPN2 | C | 100.00 | 100.00 | NM_002951.5 | |
| RXYLT1 | C | 99.99 | 100.00 | NM_014254.3 | |
| SARDH | C | 100.00 | 100.00 | NM_001134707.2 | |
| SAT1 | C | 100.00 | 100.00 | NM_002970.4 | |
| SC5D | C | 100.00 | 100.00 | NM_006918.5 | |
| SCARB2 | C | 100.00 | 100.00 | NM_005506.4 | |
| SCP2 | C | 98.8 | 99.93 | NM_002979.5 | |
| SCYL1 | C | 100.00 | 100.00 | NM_020680.4 | |
| SEC23B | C | 99.97 | 100.00 | NM_006363.6 | |
| SELENBP1 | C | 99.99 | 100.00 | NM_003944.4 | |
| SEPSECS | C | 99.93 | 99.99 | NM_016955.4 | |
| SERAC1 | C | 100.00 | 100.00 | NM_032861.4 | |
| SGSH | C | 100.00 | 100.00 | NM_000199.5 | |
| SI | C | 99.99 | 99.99 | NM_001041.4 | |
| SLC10A7 | C | 99.85 | 100.00 | NM_001029998.6 | |
| SLC12A1 | C | 100.00 | 100.00 | NM_000338.3 | |
| SLC13A3 | C | 100.00 | 100.00 | NM_022829.6 | |
| SLC16A1 | C | 99.9 | 100.00 | NM_003051.4 | |
| SLC17A5 | C | 99.97 | 100.00 | NM_012434.5 | |
| SLC18A2 | C | 100.00 | 100.00 | NM_003054.6 | |
| SLC22A12 | C | 100.00 | 100.00 | NM_144585.4 | |
| SLC22A5 | C | 100.00 | 100.00 | NM_003060.4 | |
| SLC25A1 | C | 99.92 | 100.00 | NM_005984.5 | |
| SLC25A13 | C | 99.96 | 100.00 | NM_014251.3 | |
| SLC25A15 | C | 100.00 | 100.00 | NM_014252.4 | |
| SLC25A19 | C | 100.00 | 100.00 | NM_001126121.2 | |
| SLC25A20 | C | 100.00 | 100.00 | NM_000387.6 | |
| SLC25A21 | C | 100.00 | 100.00 | NM_030631.4 | |
| SLC25A32 | C | 100.00 | 100.00 | NM_030780.5 | |
| SLC25A38 | C | 100.00 | 100.00 | NM_017875.4 | |
| SLC25A42 | C | 100.00 | 100.00 | NM_178526.5 | |
| SLC28A1 | C | 100.00 | 100.00 | NM_004213.5 | |
| SLC2A1 | C | 99.92 | 100.00 | NM_006516.4 | |
| SLC2A2 | C | 100.00 | 100.00 | NM_000340.2 | |
| SLC2A9 | C | 99.91 | 100.00 | NM_020041.3 | |
| SLC30A10 | C | 100.00 | 100.00 | NM_018713.3 | |
| SLC33A1 | C | 100.00 | 100.00 | NM_004733.4 | |
| SLC35A1 | C | 100.00 | 100.00 | NM_006416.5 | |
| SLC35A2 | C | 100.00 | 100.00 | NM_005660.3 | |
| SLC35A3 | C | 99.48 | 99.99 | NM_012243.3 | |
| SLC35C1 | C | 100.00 | 100.00 | NM_018389.5 | |
| SLC35D1 | C | 99 | 99.95 | NM_015139.3 | |
| SLC37A4 | C | 100.00 | 100.00 | NM_001164278.2 | |
| SLC39A14 | C | 100.00 | 100.00 | NM_001128431.4 | |
| SLC39A4 | C | 100.00 | 100.00 | NM_130849.4 | |
| SLC39A8 | C | 99.84 | 99.98 | NM_001135146.2 | |
| SLC3A1 | C | 100.00 | 100.00 | NM_000341.4 | |
| SLC44A1 | C | 99.93 | 99.99 | NM_080546.5 | |
| SLC46A1 | C | 100.00 | 100.00 | NM_080669.3 | |
| SLC52A1 | C | 100.00 | 100.00 | NM_017986.4 | |
| SLC52A2 | C | 100.00 | 100.00 | NM_001363118.2 | |
| SLC52A3 | C | 100.00 | 100.00 | NM_033409.4 | |
| SLC5A1 | C | 100.00 | 100.00 | NM_000343.4 | |
| SLC5A2 | C | 100.00 | 100.00 | NM_003041.4 | |
| SLC6A19 | C | 100.00 | 100.00 | NM_001003841.3 | |
| SLC6A5 | C | 100.00 | 100.00 | NM_004211.5 | |
| SLC6A8 | C | 99.97 | 100.00 | NM_005629.4 | |
| SLC6A9 | C | 100.00 | 100.00 | NM_001024845.3 | |
| SLC7A7 | C | 100.00 | 100.00 | NM_003982.4 | |
| SLC7A9 | C | 100.00 | 100.00 | NM_014270.5 | |
| SLCO1B1 | C | 99.36 | 99.73 | NM_006446.5 | |
| SLCO1B3 | C | 100.00 | 100.00 | NM_019844.4 | |
| SMPD1 | C | 100.00 | 100.00 | NM_000543.5 | |
| SMS | C | 99.61 | 99.95 | NM_004595.5 | |
| SNX14 | C | 99.95 | 99.99 | NM_153816.6 | |
| SOD1 | C | 100.00 | 100.00 | NM_000454.5 | |
| SOD2 | C | 100.00 | 100.00 | NM_000636.4 | |
| SPR | C | 100.00 | 100.00 | NM_003124.5 | |
| SPTLC1 | C | 99.96 | 100.00 | NM_006415.4 | |
| SPTLC2 | C | 100.00 | 100.00 | NM_004863.4 | |
| SQOR | C | 100.00 | 100.00 | NM_021199.4 | |
| SRD5A2 | C | 100.00 | 100.00 | NM_000348.3 | |
| SRD5A3 | C | 100.00 | 100.00 | NM_024592.5 | |
| SSR4 | C | 100.00 | 100.00 | NM_006280.3 | |
| ST3GAL3 | C | 100.00 | 100.00 | NM_006279.5 | |
| ST3GAL5 | C | 99.86 | 99.96 | NM_003896.4 | |
| STAR | C | 100.00 | 100.00 | NM_000349.3 | |
| STS | C | 99.95 | 100.00 | NM_001320752.2 | |
| STT3A | C | 100.00 | 100.00 | NM_152713.5 | |
| STT3B | C | 100.00 | 100.00 | NM_178862.3 | |
| STX5 | C | 100.00 | 100.00 | NM_003164.5 | |
| SUCLA2 | C | 99.99 | 100.00 | NM_003850.3 | |
| SUCLG1 | C | 99.96 | 100.00 | NM_003849.4 | |
| SUCLG2 | C | 100.00 | 100.00 | NM_003848.4 | |
| SUGCT | C | 100.00 | 100.00 | NM_001193313.2 | |
| SUMF1 | C | 100.00 | 100.00 | NM_182760.4 | |
| SUOX | C | 100.00 | 100.00 | NM_001032386.2 | |
| TAFAZZIN | C | 100.00 | 100.00 | NM_000116.5 | |
| TALDO1 | C | 100.00 | 100.00 | NM_006755.2 | |
| TANGO2 | C | 99.96 | 100.00 | NM_152906.7 | |
| TAT | C | 99.99 | 100.00 | NM_000353.3 | |
| TBXAS1 | C | 100.00 | 100.00 | NM_001061.7 | |
| TCIRG1 | C | 100.00 | 100.00 | NM_006019.4 | |
| TCN2 | C | 100.00 | 100.00 | NM_000355.4 | |
| TECR | C | 100.00 | 100.00 | NM_138501.6 | |
| TH | C | 100.00 | 100.00 | NM_000360.4 | |
| TIMM50 | C | 100.00 | 100.00 | NM_001001563.5 | |
| TK2 | C | 100.00 | 100.00 | NM_004614.5 | |
| TKFC | C | 99.9 | 100.00 | NM_015533.4 | |
| TKT | C | 99.99 | 100.00 | NM_001064.4 | |
| TMEM106B | C | 100.00 | 100.00 | NM_001134232.2 | |
| TMEM165 | C | 100.00 | 100.00 | NM_018475.5 | |
| TMEM199 | C | 100.00 | 100.00 | NM_152464.3 | |
| TMEM70 | C | 100.00 | 100.00 | NM_017866.6 | |
| TMLHE | C | 83.67 | 85.11 | NM_018196.4 | |
| TPI1 | C | 100.00 | 100.00 | NM_000365.6 | |
| TPK1 | C | 100.00 | 100.00 | NM_022445.4 | |
| TPMT | C | 100.00 | 100.00 | NM_000367.5 | |
| TPP1 | C | 100.00 | 100.00 | NM_000391.4 | |
| TRAK1 | C | 100.00 | 100.00 | NM_001042646.3 | |
| TRAPPC11 | C | 100.00 | 100.00 | NM_021942.6 | |
| TRAPPC2L | C | 100.00 | 100.00 | NM_001318525.2 | |
| TREH | C | 100.00 | 100.00 | NM_007180.3 | |
| TUSC3 | C | 100.00 | 100.00 | NM_006765.4 | |
| TYMP | C | 99.9 | 99.99 | NM_001953.5 | |
| TYMS | C | 100.00 | 100.00 | NM_001071.4 | |
| TYR | C | 100.00 | 100.00 | NM_000372.5 | |
| TYRP1 | C | 100.00 | 100.00 | NM_000550.3 | |
| UFM1 | C | 100.00 | 100.00 | NM_016617.4 | |
| UGT1A1 | C | 100.00 | 100.00 | NM_000463.3 | |
| UMPS | C | 100.00 | 100.00 | NM_000373.4 | |
| UPB1 | C | 100.00 | 100.00 | NM_016327.3 | |
| UROC1 | C | 99.98 | 100.00 | NM_144639.3 | |
| UROD | C | 99.73 | 99.97 | NM_000374.5 | |
| UROS | C | 100.00 | 100.00 | NM_000375.3 | |
| VMA21 | C | 100.00 | 100.00 | NM_001017980.4 | |
| VPS13B | C | 100.00 | 100.00 | NM_152564.5 | |
| VPS33A | C | 100.00 | 100.00 | NM_022916.6 | |
| XDH | C | 100.00 | 100.00 | NM_000379.4 | |
| XYLT1 | C | 98.12 | 99.31 | NM_022166.4 | |
| XYLT2 | C | 99.51 | 99.93 | NM_022167.4 | |
| ZBTB11 | C | 100.00 | 100.00 | NM_014415.4 | |
| ZMPSTE24 | C | 99.98 | 100.00 | NM_005857.5 |
| Indicatie(s) |
|---|
| Metabole afwijkingen, algemeen |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C