1. Analytes
  2. ATP2A1

ATP2A1

Analyte Export to PDF
Name:
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1
Symbol:
ATP2A1
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
SERCA1
calcium pump 1
sarcoplasmic/endoplasmic reticulum calcium ATPase 1
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Myopathy (332 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD5 100.00 1 NM_016006.6
    ACAD9 100.00 1 NM_014049.5
    ACADM 100.00 1 NM_000016.6
    ACADVL 100.00 1 NM_000018.4
    ACTA1 100.00 1 NM_001100.4
    ACVR1 100.00 1 NM_001111067.4
    ADSS1 100.00 1 NM_199165.2
    AGK 100.00 1 NM_018238.4
    AGL 100.00 1 NM_000642.3
    AGRN 100.00 1 NM_198576.4
    AIFM1 100.00 1 NM_004208.4
    ALDOA 100.00 1 NM_184041.4
    ALG13 98.00 1 NM_001099922.3
    ALG14 100.00 1 NM_144988.4
    ALG2 100.00 1 NM_033087.4
    ALS2 100.00 1 NM_020919.4
    AMPD1 100.00 1 NM_000036.2
    ANG 100.00 1 NM_001145.4
    ANO5 100.00 1 NM_213599.3
    AR 100.00 1 NM_000044.6
    ASAH1 100.00 1 NM_177924.5
    ASCC1 100.00 1 NM_001198800.3
    ATP2A1 100.00 1 NM_004320.6
    ATP7A 100.00 1 NM_000052.7
    ATXN2 100.00 1 NM_001372574.1
    B3GALNT2 100.00 1 NM_152490.5
    B4GAT1 100.00 1 NM_006876.3
    BAG3 100.00 1 NM_004281.4
    BCS1L 100.00 1 NM_001079866.2
    BICD2 100.00 1 NM_001003800.2
    BIN1 100.00 1 NM_139343.3
    BSCL2 100.00 1 NM_001122955.3
    BVES 100.00 1 NM_001199563.2
    C1QBP 100.00 1 NM_001212.4
    C9ORF72 100.00 0 NM_018325.5
    CACNA1A 100.00 1 NM_023035.3
    CACNA1S 100.00 1 NM_000069.3
    CAPN3 100.00 1 NM_000070.3
    CASQ1 100.00 1 NM_001231.5
    CAV3 100.00 1 NM_033337.3
    CAVIN1 100.00 1 NM_012232.6
    CCDC78 100.00 1 NM_001031737.3
    CFL2 100.00 1 NM_138638.5
    CHAT 100.00 1 NM_020549.4
    CHCHD10 100.00 1 NM_213720.3
    CHKB 100.00 1 NM_005198.5
    CHMP2B 100.00 1 NM_014043.4
    CHRNA1 100.00 1 NM_000079.4
    CHRNB1 100.00 1 NM_000747.3
    CHRND 100.00 1 NM_000751.3
    CHRNE 100.00 1 NM_000080.4
    CHRNG 100.00 1 NM_005199.5
    CHST14 100.00 1 NM_130468.4
    CLCN1 100.00 1 NM_000083.3
    CLN3 100.00 1 NM_001042432.2
    CNBP 100.00 1 NM_003418.5
    CNTN1 100.00 1 NM_001843.4
    COL12A1 100.00 1 NM_004370.6
    COL13A1 100.00 1 NM_001130103.2
    COL6A1 100.00 1 NM_001848.3
    COL6A2 100.00 1 NM_001849.4
    COL6A3 100.00 1 NM_004369.4
    COLQ 100.00 1 NM_005677.4
    COQ9 100.00 1 NM_020312.4
    COX10 100.00 1 NM_001303.4
    COX15 100.00 1 NM_078470.6
    COX20 100.00 1 NM_198076.6
    COX6B1 100.00 1 NM_001863.5
    COX8A 100.00 1 NM_004074.3
    CPT2 100.00 1 NM_000098.3
    CRPPA 100.00 1 NM_001101426.4
    CRYAB 100.00 1 NM_001289808.2
    DAG1 100.00 1 NM_001177634.2
    DCTN1 100.00 1 NM_004082.4
    DES 100.00 1 NM_001927.4
    DGUOK 100.00 1 NM_080916.3
    DMD 100.00 1 NM_004006.2
    DMPK 100.00 1 NM_004409.5
    DNA2 100.00 1 NM_001080449.3
    DNAJB2 100.00 1 NM_006736.6
    DNAJB6 100.00 1 NM_058246.4
    DNM2 100.00 1 NM_001005361.3
    DNMT3B 100.00 1 NM_006892.4
    DOK7 100.00 1 NM_173660.5
    DPAGT1 100.00 1 NM_001382.4
    DPM1 99.00 1 NM_001317035.1
    DPM2 100.00 1 NM_003863.4
    DPM3 100.00 1 NM_153741.2
    DYNC1H1 100.00 1 NM_001376.5
    DYSF 100.00 1 NM_001130987.2
    ECEL1 100.00 1 NM_004826.4
    EMD 100.00 1 NM_000117.3
    ENO3 100.00 1 NM_053013.4
    ERBB3 100.00 1 NM_001982.4
    ERBB4 100.00 1 NM_005235.3
    ETFA 100.00 1 NM_000126.4
    ETFB 100.00 1 NM_001985.3
    ETFDH 100.00 1 NM_004453.4
    EXOSC3 100.00 1 NM_016042.4
    EXOSC8 100.00 1 NM_181503.3
    FASTKD2 100.00 1 NM_001136193.2
    FBN2 100.00 1 NM_001999.4
    FBXL4 100.00 1 NM_001278716.2
    FBXO38 100.00 1 NM_205836.3
    FDX2 100.00 1 NM_001031734.4
    FHL1 100.00 1 NM_001159699.2
    FIG4 100.00 1 NM_014845.6
    FKRP 100.00 1 NM_024301.5
    FKTN 100.00 1 NM_006731.2
    FLAD1 100.00 1 NM_025207.5
    FLNC 100.00 1 NM_001458.4
    FOXRED1 100.00 1 NM_017547.4
    FUS 100.00 1 NM_004960.4
    FXR1 100.00 1 NM_005087.4
    GAA 100.00 1 NM_000152.5
    GABRA3 100.00 1 NM_000808.4
    GARS1 100.00 1 NM_002047.4
    GBE1 100.00 1 NM_000158.4
    GFER 100.00 1 NM_005262.3
    GFPT1 100.00 1 NM_001244710.2
    GLE1 100.00 1 NM_001003722.2
    GLI3 100.00 1 NM_000168.6
    GMPPB 100.00 1 NM_021971.4
    GNE 100.00 1 NM_005476.7
    GOLGA2 100.00 1 XM_005251932.1
    GYG1 100.00 1 NM_004130.4
    GYS1 100.00 1 NM_002103.5
    HACD1 100.00 1 NM_014241.4
    HADHA 100.00 1 NM_000182.5
    HADHB 100.00 1 NM_000183.3
    HEXB 100.00 1 NM_000521.4
    HNRNPA1 100.00 1 NM_031157.4
    HNRNPA2B1 100.00 1 NM_031243.3
    HNRNPDL 100.00 1 NM_031372.3
    HRAS 100.00 1 NM_005343.4
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    HSPG2 100.00 1 NM_005529.7
    IBA57 100.00 1 NM_001010867.4
    IGHMBP2 100.00 1 NM_002180.3
    INPP5K 100.00 1 NM_016532.4
    ISCU 100.00 1 NM_213595.3
    ITGA7 100.00 1 NM_002206.3
    KBTBD13 100.00 1 NM_001101362.2
    KCNA1 100.00 1 NM_000217.3
    KCNH2 100.00 1 NM_000238.4
    KCNJ18 100.00 1 NM_001194958.2
    KCNJ2 100.00 1 NM_000891.3
    KCNQ1 100.00 1 NM_000218.3
    KIF5A 100.00 1 NM_004984.4
    KLHL40 100.00 1 NM_152393.4
    KLHL41 100.00 1 NM_006063.3
    KLHL9 100.00 1 NM_018847.4
    KY 100.00 1 NM_178554.6
    LAMA2 100.00 1 NM_000426.3
    LAMA5 100.00 1 NM_005560.6
    LAMB2 100.00 1 NM_002292.4
    LAMP2 100.00 1 NM_002294.3
    LARGE1 100.00 1 NM_004737.6
    LDB3 98.00 1 NM_001171610.2
    LDHA 100.00 1 NM_005566.4
    LGI4 100.00 1 NM_139284.3
    LIMS2 100.00 1 NM_017980.4
    LMNA 100.00 1 NM_170707.4
    LMOD3 100.00 1 NM_198271.5
    LPIN1 100.00 1 NM_001349206.2
    LRP4 100.00 1 NM_002334.4
    LRPPRC 100.00 1 NM_133259.4
    MAP3K20 100.00 1 NM_016653.3
    MATR3 100.00 1 NM_018834.6
    MCCC1 100.00 1 NM_020166.5
    MCCC2 100.00 1 NM_022132.5
    MEGF10 100.00 1 NM_001256545.2
    MGME1 100.00 1 NM_052865.4
    MPV17 100.00 1 NM_002437.5
    MSTN 100.00 1 NM_005259.3
    MTM1 100.00 1 NM_000252.3
    MTMR14 100.00 1 NM_001077525.3
    MUSK 100.00 1 NM_005592.4
    MYBPC1 100.00 1 NM_002465.4
    MYBPC3 100.00 1 NM_000256.3
    MYH2 100.00 1 NM_017534.6
    MYH3 100.00 1 NM_002470.4
    MYH7 100.00 1 NM_000257.4
    MYH8 100.00 1 NM_002472.3
    MYL1 100.00 1 NM_079420.3
    MYMK 100.00 1 NM_001080483.3
    MYO18B 100.00 1 NM_032608.7
    MYO9A 100.00 1 NM_006901.4
    MYOT 100.00 1 NM_006790.3
    MYPN 100.00 1 NM_032578.3
    NDUFA1 100.00 1 NM_004541.4
    NDUFA10 100.00 1 NM_004544.4
    NDUFA11 100.00 1 NM_175614.5
    NDUFA12 100.00 1 NM_018838.5
    NDUFA2 100.00 1 NM_002488.5
    NDUFA3 100.00 1 NM_004542.4
    NDUFA9 100.00 1 NM_005002.5
    NDUFAF1 100.00 1 NM_016013.4
    NDUFAF2 100.00 1 NM_174889.5
    NDUFAF5 100.00 1 NM_024120.5
    NDUFAF6 100.00 1 NM_152416.4
    NDUFS1 100.00 1 NM_005006.7
    NDUFS2 100.00 1 NM_004550.4
    NDUFS3 100.00 1 NM_004551.3
    NDUFS4 100.00 1 NM_002495.4
    NDUFS7 100.00 1 NM_024407.5
    NDUFS8 100.00 1 NM_002496.4
    NDUFV1 100.00 1 NM_007103.4
    NDUFV2 100.00 1 NM_021074.5
    NEB 88.00 1 NM_001271208.2
    NEFH 100.00 1 NM_021076.4
    NUBPL 100.00 1 NM_025152.3
    OPTN 100.00 1 NM_001008212.2
    ORAI1 100.00 1 NM_032790.3
    PABPN1 100.00 1 NM_004643.3
    PET100 100.00 1 NM_001171155.2
    PFKM 100.00 1 NM_000289.6
    PFN1 100.00 1 NM_005022.4
    PGAM2 100.00 1 NM_000290.4
    PGK1 100.00 1 NM_000291.4
    PGM1 100.00 1 NM_002633.3
    PHKA1 100.00 1 NM_002637.4
    PHKB 100.00 1 NM_000293.3
    PHKG1 100.00 1 NM_001258459.1
    PIEZO2 100.00 1 NM_022068.3
    PIP5K1C 100.00 1 NM_012398.3
    PLEC 100.00 1 NM_201380.4
    PLEKHG5 100.00 1 NM_001265592.1
    PNPLA2 100.00 1 NM_020376.4
    PNPLA8 100.00 1 NM_001256007.3
    POGLUT1 100.00 1 NM_152305.3
    POLG 100.00 1 NM_001126131.2
    POLG2 100.00 1 NM_007215.4
    POMGNT1 100.00 1 NM_001243766.1
    POMGNT2 100.00 1 NM_032806.6
    POMK 100.00 1 NM_032237.5
    POMT1 100.00 1 NM_001077365.2
    POMT2 100.00 1 NM_013382.5
    PREPL 100.00 1 NM_001171613.2
    PRKAG2 100.00 1 NM_016203.4
    PRPH 100.00 1 NM_006262.4
    PUS1 100.00 1 NM_025215.6
    PYGM 100.00 1 NM_005609.4
    PYROXD1 100.00 1 NM_024854.5
    RAPSN 100.00 1 NM_005055.5
    RBCK1 100.00 1 NM_031229.4
    RBM7 100.00 1 NM_001286045.1
    REEP1 100.00 1 NM_001371279.1
    RNASEH1 100.00 1 NM_002936.5
    RRM2B 100.00 1 NM_015713.5
    RXYLT1 100.00 1 NM_014254.3
    RYR1 100.00 1 NM_000540.3
    SCN4A 100.00 1 NM_000334.4
    SCO1 100.00 1 NM_004589.4
    SCO2 100.00 1 NM_005138.3
    SELENON 90.00 1 NM_020451.3
    SETX 100.00 1 NM_015046.7
    SGCA 100.00 1 NM_000023.4
    SGCB 100.00 1 NM_000232.5
    SGCD 100.00 1 XM_017009724.1
    SGCG 100.00 1 NM_000231.2
    SIGMAR1 100.00 1 NM_005866.4
    SIL1 100.00 1 NM_022464.5
    SLC18A3 100.00 1 NM_003055.3
    SLC22A5 100.00 1 NM_003060.4
    SLC25A20 100.00 1 NM_000387.6
    SLC25A4 100.00 1 NM_001151.4
    SLC52A2 100.00 1 NM_001363118.2
    SLC52A3 100.00 1 NM_033409.4
    SLC5A7 100.00 1 NM_021815.5
    SMCHD1 100.00 1 NM_015295.3
    SMN1 6.00 0 NM_000344.3+(exon 1 à 7 non couvert)
    SNAP25 100.00 1 NM_130811.4
    SOD1 100.00 1 NM_000454.5
    SPEG 100.00 1 NM_005876.5
    SPG11 100.00 1 NM_025137.4
    SPG7 100.00 1 NM_003119.4
    SPTBN4 100.00 1 NM_020971.3
    SQSTM1 100.00 1 NM_003900.5
    STAC3 100.00 1 NM_145064.3
    STIM1 100.00 1 NM_001277961.1
    SUCLA2 100.00 1 NM_003850.2
    SUCLG1 100.00 1 NM_003849.4
    SURF1 100.00 1 NM_003172.4
    SYNE1 100.00 1 NM_182961.4
    SYNE2 100.00 1 NM_182914.2
    SYT2 100.00 1 NM_177402.5
    TACO1 100.00 1 NM_016360.4
    TANGO2 100.00 1 NM_152906.7
    TARDBP 100.00 1 NM_007375.4
    TARS2 100.00 1 NM_025150.5
    TAFAZZIN 100.00 1 NM_000116.5
    TCAP 100.00 1 NM_003673.4
    TIA1 100.00 1 NM_022173.4
    TK2 100.00 1 NM_004614.5
    TMEM43 100.00 1 NM_024334.3
    TNNI2 100.00 1 NM_003282.4
    TNNT1 100.00 1 NM_003283.6
    TNNT3 100.00 1 NM_006757.4
    TNPO3 100.00 1 NM_012470.3
    TOP3A 100.00 1 NM_004618.5
    TOR1AIP1 100.00 1 NM_001267578.1
    TPM2 100.00 1 NM_003289.4
    TPM3 100.00 1 NM_152263.4
    TRAPPC11 100.00 1 NM_021942.6
    TRIM32 100.00 1 NM_012210.3
    TRIM54 100.00 1 NM_187841.3
    TRIM63 100.00 1 NM_032588.3
    TRIP4 100.00 1 NM_016213.5
    TRMT5 100.00 1 NM_020810.3
    TRPV4 100.00 1 NM_021625.5
    TSFM 100.00 1 NM_005726.6
    TTN 100.00 1 NM_001267550.2
    TUBA4A 100.00 1 NM_006000.3
    TWNK 100.00 1 NM_021830.5
    TYMP 100.00 1 NM_001257989.1
    UBA1 100.00 1 NM_003334.4
    UBQLN2 100.00 1 NM_013444.3
    VAMP1 100.00 1 NM_014231.5
    VAPB 100.00 1 NM_004738.5
    VARS1 100.00 1 NM_001167734.1
    VCP 100.00 1 NM_007126.5
    VMA21 100.00 1 NM_001363810.1
    VPS33B 100.00 1 NM_018668.5
    VRK1 100.00 1 NM_003384.3
    WARS1 100.00 1 NM_004184.4
    XK 100.00 1 NM_021083.4
    YARS2 100.00 1 NM_001040436.3
    ZC4H2 100.00 1 NM_018684.4
  • Myopathy (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD5 99.64 1
    ACAD9 99.97 1
    ACADM 99.64 1
    ACADS 100.00 1
    ACADVL 99.94 1
    ACTA1 99.99 1
    ACTN2 99.96 1
    ADSS1 99.99 1
    AGK 99.98 1
    AGL 99.92 1
    AGRN 99.83 1
    ALDOA 100.00 1
    ALG14 99.97 1
    ALG2 99.95 1
    ANO5 99.96 1
    ANXA11 99.88 1
    ASCC1 91.38 1
    ATP1A2 99.96 1
    ATP2A1 99.97 1
    B3GALNT2 94.03 1
    B4GAT1 99.95 1
    BAG3 100.00 1
    BIN1 100.00 1
    BVES 99.97 1
    CACNA1S 99.92 1
    CAP2 99.97 1
    CAPN3 99.98 1
    CASQ1 99.91 1
    CAV3 99.85 1
    CAVIN1 99.99 1
    CFL2 99.81 1
    CHAT 99.77 1
    CHD7 99.96 1
    CHKB 99.89 1
    CHRNA1 99.96 1
    CHRNB1 99.99 1
    CHRND 100.00 1
    CHRNE 99.95 1
    CHRNG 99.87 1
    CLCN1 99.97 1
    CNBP 99.97 1
    COL12A1 99.95 1
    COL13A1 99.56 1
    COL25A1 99.96 1
    COL6A1 100.00 1
    COL6A2 99.96 1
    COL6A3 99.99 1
    COLQ 99.97 1
    COX6A2 98.51 1
    CPT2 99.99 1
    CRPPA 99.59 1
    CRYAB 99.98 1
    DAG1 100.00 1
    DCST2 99.92 1
    DES 100.00 1
    DGUOK 99.76 1
    DMD 99.41 1
    DMPK 99.98 1
    DNAJB6 99.91 1
    DNM2 99.96 1
    DNMT3B 99.98 1
    DOK7 99.73 1
    DPAGT1 99.96 1
    DPM2 100.00 1
    DPM3 100.00 1
    DYSF 99.99 1
    EMD 97.92 1
    ENO3 99.98 1
    ETFA 99.84 1
    ETFDH 99.76 1
    FAM111B 99.99 1
    FDX2 99.94 1
    FHL1 99.92 1
    FKRP 99.99 1
    FKTN 99.91 1
    FLAD1 100.00 1
    FLNC 99.99 1
    FXR1 99.81 1
    GAA 99.99 1
    GBE1 99.84 1
    GFER 99.96 1
    GFPT1 99.90 1
    GGPS1 99.89 1
    GMPPB 99.95 1
    GNE 99.98 1
    GYG1 99.97 1
    GYS1 99.98 1
    HACD1 99.78 1
    HADH 99.97 1
    HADHA 99.96 1
    HADHB 99.97 1
    HNRNPA1 100.00 1
    HNRNPA2B1 99.95 1
    HNRNPDL 99.92 1
    INPP5K 99.99 1
    ISCU 99.94 1
    ITGA7 99.98 1
    ITGA9 99.80 1
    JAG2 98.50 1
    KBTBD13 100.00 1
    KCNJ2 100.00 1
    KIF21A 99.80 1
    KLHL40 100.00 1
    KLHL41 99.96 1
    KLHL9 100.00 1
    KY 98.80 1
    LAMA2 99.97 1
    LAMB2 99.99 1
    LAMP2 98.98 1
    LARGE1 99.99 1
    LDB3 98.02 1
    LDHA 99.77 1
    LIMS2 99.65 1
    LMNA 99.98 1
    LMOD3 99.96 1
    LPIN1 99.97 1
    LRP4 99.98 1
    MAP3K20 99.92 1
    MATR3 99.87 1
    MB 99.99 1
    MEGF10 99.90 1
    MICU1 99.98 1
    MLIP 99.94 1
    MSTO1 98.87 1
    MTM1 99.36 1
    MUSK 99.97 1
    MYBPC1 99.90 1
    MYBPC3 99.98 1
    MYH14 99.79 1
    MYH2 99.97 1
    MYH3 99.96 1
    MYH7 100.00 1
    MYL1 99.93 1
    MYL2 99.98 1
    MYMX 100.00 1
    MYO18B 99.98 1
    MYO9A 99.91 1
    MYOD1 99.82 1
    MYOT 99.98 1
    MYPN 99.97 1
    NEB 99.77 1
    NPL 99.95 1
    OPA1 99.87 1
    ORAI1 97.73 1
    PABPN1 99.67 1
    PAX7 99.96 1
    PFKM 99.82 1
    PGAM2 100.00 1
    PGK1 99.71 1
    PGM1 99.89 1
    PHKA1 99.57 1
    PHKB 99.79 1
    PHOX2A 96.75 1
    PLEC 99.98 1
    PNPLA2 99.99 1
    PNPLA8 99.81 1
    POGLUT1 99.91 1
    POLG 99.98 1
    POLG2 99.68 1
    POMGNT1 99.98 1
    POMGNT2 100.00 1
    POMK 99.98 1
    POMT1 99.91 1
    POMT2 99.93 1
    POPDC3 99.93 1
    PREPL 99.96 1
    PRKAG2 99.92 1
    PYGM 99.98 1
    PYROXD1 99.83 1
    RAPSN 99.99 1
    RBCK1 99.99 1
    RXYLT1 99.53 1
    RYR1 99.92 1
    SCN4A 99.77 1
    SELENON 95.81 1
    SGCA 99.99 1
    SGCB 99.62 1
    SGCD 99.94 1
    SGCG 99.87 1
    SIL1 99.99 1
    SLC18A3 100.00 1
    SLC22A5 99.99 1
    SLC25A20 99.90 1
    SLC25A4 99.96 1
    SLC5A7 99.97 1
    SMCHD1 99.82 1
    SMPX 99.37 1
    SPEG 99.97 1
    SQSTM1 100.00 1
    STAC3 99.94 1
    STIM1 99.97 1
    SVIL 99.94 1
    SYNE1 99.96 1
    SYNE2 99.85 1
    SYT2 99.89 1
    TCAP 100.00 1
    TIA1 99.56 1
    TK2 99.99 1
    TMEM126B 99.68 1
    TMEM43 99.98 1
    TNNC2 99.95 1
    TNNI2 100.00 1
    TNNT1 99.82 1
    TNNT3 100.00 1
    TNPO3 99.95 1
    TNXB 99.95 1
    TOP3A 99.95 1
    TOR1AIP1 99.84 1
    TPI1 99.95 1
    TPM2 99.93 1
    TPM3 99.95 1
    TRAPPC11 99.59 1
    TRDN 99.03 1
    TRIM32 100.00 1
    TRIP4 99.91 1
    TRMT5 99.83 1
    TTN 99.96 1
    TUBB3 100.00 1
    TWNK 100.00 1
    UNC45B 99.93 1
    VAMP1 99.70 1
    VCP 99.92 1
    VMA21 97.04 1
    VWA1 91.35 1
  • Neuromuscular disorders (548 genes) - ULB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABCD1 97.56 0 No comment
    ABHD12 88.30 0 No comment
    ABHD5 99.85 0 No comment
    ACAD9 100.00 0 No comment
    ACADL 98.57 0 No comment
    ACADM 99.87 0 No comment
    ACADS 97.51 0 No comment
    ACADVL 98.04 0 No comment
    ACTA1 99.79 0 No comment
    ACVR1 100.00 0 No comment
    ADAR 100.00 0 No comment
    ADSS1 99.98 0 No comment
    AFG3L2 94.80 0 No comment
    AGK 100.00 0 No comment
    AGL 100.00 0 No comment
    AGRN 96.53 0 No comment
    AIFM1 99.98 0 No comment
    AIMP1 99.97 0 No comment
    ALDH18A1 100.00 0 No comment
    ALDH3A2 99.94 0 No comment
    ALDOA 100.00 0 No comment
    ALG13 99.53 0 No comment
    ALG14 100.00 0 No comment
    ALG2 99.83 0 No comment
    ALS2 100.00 0 No comment
    AMPD1 100.00 0 No comment
    AMPD2 99.90 0 No comment
    ANG 100.00 0 No comment
    ANO5 100.00 0 No comment
    ANXA11 99.99 0 No comment
    AP4B1 100.00 0 No comment
    AP4E1 99.99 0 No comment
    AP4M1 100.00 0 No comment
    AP4S1 100.00 0 No comment
    AP5Z1 99.25 0 No comment
    APTX 99.96 0 No comment
    AR 100.00 0 No comment
    ARG1 100.00 0 No comment
    ARHGEF10 99.98 0 No comment
    ARHGEF28 99.05 0 No comment
    ARL6IP1 100.00 0 No comment
    ARSI 99.82 0 No comment
    ASAH1 100.00 0 No comment
    ASCC1 91.30 0 No comment
    ATL1 99.89 0 No comment
    ATL3 99.93 0 No comment
    ATM 100.00 0 No comment
    ATP13A2 98.30 0 No comment
    ATP1A1 100.00 0 No comment
    ATP2A1 100.00 0 No comment
    ATP7A 100.00 0 No comment
    ATXN2 93.25 0 No comment
    AUH 99.24 0 No comment
    B3GALNT2 92.96 0 No comment
    B4GAT1 99.99 0 No comment
    B4GALNT1 99.99 0 No comment
    BAG3 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BICD2 100.00 0 No comment
    BIN1 99.94 0 No comment
    BSCL2 100.00 0 No comment
    BVES 100.00 0 No comment
    TWNK 100.00 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    C1QBP 99.47 0 No comment
    C9ORF72 99.96 0 No comment
    CACNA1A 99.53 0 No comment
    CACNA1S 100.00 0 No comment
    CAPN1 99.97 0 No comment
    CAPN3 99.99 0 No comment
    CASQ1 100.00 0 No comment
    CAV3 100.00 0 No comment
    CCDC78 100.00 0 No comment
    CCT5 99.92 0 No comment
    CFL2 100.00 0 No comment
    CHAT 99.97 0 No comment
    CHCHD10 99.66 0 No comment
    CHKB 99.75 0 No comment
    CHMP2B 100.00 0 No comment
    CHRNA1 99.99 0 No comment
    CHRNB1 99.95 0 No comment
    CHRND 100.00 0 No comment
    CHRNE 100.00 0 No comment
    CHRNG 99.87 0 No comment
    CHST14 99.50 0 No comment
    CLCN1 100.00 0 No comment
    CLN3 100.00 0 No comment
    CLN8 100.00 0 No comment
    CLTCL1 99.04 0 No comment
    CNBP 100.00 0 No comment
    CNTN1 100.00 0 No comment
    CNTNAP1 100.00 0 No comment
    COL12A1 100.00 0 No comment
    COL13A1 99.52 0 No comment
    COL6A1 99.90 0 No comment
    COL6A2 99.98 0 No comment
    COL6A3 100.00 0 No comment
    COLQ 100.00 0 No comment
    COQ9 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 99.99 0 No comment
    COX20 100.00 0 No comment
    COX6A1 100.00 0 No comment
    COX6B1 100.00 0 No comment
    COX8A 100.00 0 No comment
    CPT1C 100.00 0 No comment
    CPT2 98.55 0 No comment
    CRYAB 100.00 0 No comment
    CSF1R 99.99 0 No comment
    CTDP1 100.00 0 No comment
    CYP27A1 99.38 0 No comment
    CYP2U1 93.20 0 No comment
    CYP7B1 95.41 0 No comment
    DAG1 100.00 0 No comment
    DARS2 100.00 0 No comment
    DCAF8 100.00 0 No comment
    DCTN1 100.00 0 No comment
    DDHD1 99.58 0 No comment
    DDHD2 100.00 0 No comment
    DES 100.00 0 No comment
    DGAT2 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DHTKD1 99.54 0 No comment
    DMD 99.96 0 No comment
    DMPK 99.91 0 No comment
    DMXL2 100.00 0 No comment
    DNAJB2 100.00 0 No comment
    DNAJB6 91.94 0 No comment
    DNM2 99.84 0 No comment
    DNMT1 99.54 0 No comment
    DOK7 97.44 0 No comment
    DOLK 100.00 0 No comment
    DPAGT1 100.00 0 No comment
    DPM1 100.00 0 No comment
    DPM2 100.00 0 No comment
    DPM3 100.00 0 No comment
    DST 100.00 0 No comment
    DYNC1H1 99.92 0 No comment
    DYSF 99.72 0 No comment
    ECEL1 99.80 0 No comment
    EGR2 100.00 0 No comment
    ELOVL4 100.00 0 No comment
    EMD 98.97 0 No comment
    ENO3 100.00 0 No comment
    ENTPD1 100.00 0 No comment
    ERBB3 100.00 0 No comment
    ERBB4 100.00 0 No comment
    ERCC2 98.91 0 No comment
    ERLIN1 100.00 0 No comment
    ERLIN2 100.00 0 No comment
    ETFA 100.00 0 No comment
    ETFB 100.00 0 No comment
    ETFDH 100.00 0 No comment
    EXOSC3 100.00 0 No comment
    EXOSC8 100.00 0 No comment
    FA2H 95.71 0 No comment
    FAM111B 100.00 0 No comment
    HYCC1 100.00 0 No comment
    RETREG1 93.72 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FBLN5 100.00 0 No comment
    FBN2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FBXO38 100.00 0 No comment
    FBXO7 99.78 0 No comment
    FDX2 100.00 0 No comment
    FGD4 99.98 0 No comment
    CFH 100.00 0 No comment
    FIG4 100.00 0 No comment
    FKRP 100.00 0 No comment
    FKTN 100.00 0 No comment
    FLAD1 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLRT1 100.00 0 No comment
    FLVCR1 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FUS 100.00 0 No comment
    FXN 94.27 0 No comment
    GAA 100.00 0 No comment
    GABRA3 99.59 0 No comment
    GAD1 100.00 0 No comment
    GALC 98.98 0 No comment
    GAN 98.52 0 No comment
    GARS1 97.89 0 No comment
    GART 99.99 0 No comment
    GBA1 100.00 0 No comment
    GBA2 100.00 0 No comment
    GBE1 100.00 0 No comment
    GCH1 99.71 0 No comment
    GDAP1 100.00 0 No comment
    GFAP 100.00 0 No comment
    GFER 99.09 0 No comment
    GFPT1 99.94 0 No comment
    GGPS1 100.00 0 No comment
    GJB1 100.00 0 No comment
    GJB3 100.00 0 No comment
    GJC2 96.72 0 No comment
    GLA 100.00 0 No comment
    GLB1 100.00 0 No comment
    GLE1 100.00 0 No comment
    GLI3 100.00 0 No comment
    GLTP 100.00 0 No comment
    GMPPB 100.00 0 No comment
    GNB4 100.00 0 No comment
    GNE 100.00 0 No comment
    GOLGA2 95.41 0 No comment
    GOSR2 100.00 0 No comment
    GSN 97.80 0 No comment
    GYG1 94.40 0 No comment
    GYS1 100.00 0 No comment
    HADHA 100.00 0 No comment
    HADHB 100.00 0 No comment
    HARS1 99.73 0 No comment
    HEPACAM 99.85 0 No comment
    HEXA 100.00 0 No comment
    HEXB 99.19 0 No comment
    HINT1 100.00 0 No comment
    HK1 100.00 0 No comment
    HNRNPA1 97.19 0 No comment
    HNRNPA2B1 100.00 0 No comment
    HNRNPDL 99.98 0 No comment
    HOXD10 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSD17B4 100.00 0 No comment
    HSPB1 100.00 0 No comment
    HSPB3 100.00 0 No comment
    HSPB8 100.00 0 No comment
    HSPD1 95.18 0 No comment
    HSPG2 99.19 0 No comment
    IBA57 92.01 0 No comment
    IFIH1 100.00 0 No comment
    IFRD1 98.86 0 No comment
    IGHMBP2 99.38 0 No comment
    ELP1 100.00 0 No comment
    INF2 99.92 0 No comment
    INPP5K 99.31 0 No comment
    ISCU 98.41 0 No comment
    CRPPA 95.50 0 No comment
    ITGA7 100.00 0 No comment
    KARS1 100.00 0 No comment
    KBTBD13 99.16 0 No comment
    KCNA1 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNE2 100.00 0 No comment
    KCNE3 100.00 0 No comment
    KCNH2 98.15 0 No comment
    KCNJ12 100.00 0 No comment
    KCNJ2 100.00 0 No comment
    KCNQ1 100.00 0 No comment
    WASHC5 100.00 0 No comment
    KIF1A 98.74 0 No comment
    KIF1B 99.84 0 No comment
    KIF1C 100.00 0 No comment
    KIF21A 98.54 0 No comment
    KIF5A 100.00 0 No comment
    KLC4 99.99 0 No comment
    KLHL40 100.00 0 No comment
    KLHL41 100.00 0 No comment
    KLHL9 100.00 0 No comment
    KY 100.00 0 No comment
    L1CAM 99.98 0 No comment
    LAMA2 100.00 0 No comment
    LAMA5 98.39 0 No comment
    LAMB2 100.00 0 No comment
    LAMP2 99.60 0 No comment
    LARGE1 100.00 0 No comment
    LDB3 100.00 0 No comment
    LDHA 99.42 0 No comment
    LGI4 100.00 0 No comment
    LIMS2 91.30 0 No comment
    LITAF 100.00 0 No comment
    LMNA 99.28 0 No comment
    LMOD3 100.00 0 No comment
    LPIN1 99.97 0 No comment
    CORIN 99.01 0 No comment
    LRPPRC 98.80 0 No comment
    LRSAM1 99.33 0 No comment
    MARS1 100.00 0 No comment
    MATR3 100.00 0 No comment
    MB 100.00 0 No comment
    MED25 100.00 0 No comment
    MEGF10 99.99 0 No comment
    MFN2 100.00 0 No comment
    MLC1 98.57 0 No comment
    MAP3K20 100.00 0 No comment
    MARS2 100.00 0 No comment
    MME 100.00 0 No comment
    MORC2 100.00 0 No comment
    MPV17 100.00 0 No comment
    MPZ 99.80 0 No comment
    MSTN 100.00 0 No comment
    MTM1 99.91 0 No comment
    MTMR14 99.92 0 No comment
    MTMR2 99.55 0 No comment
    MTPAP 99.98 0 No comment
    MUSK 100.00 0 No comment
    MYBPC1 100.00 0 No comment
    MYBPC3 100.00 0 No comment
    MYH7B 99.85 0 No comment
    MYH2 100.00 0 No comment
    MYH3 100.00 0 No comment
    MYH4 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH8 100.00 0 No comment
    MYL1 100.00 0 No comment
    MYO18B 99.80 0 No comment
    MYO9A 99.74 0 No comment
    MYOT 100.00 0 No comment
    MYPN 99.97 0 No comment
    NAGLU 96.69 0 No comment
    NDRG1 100.00 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 96.45 0 No comment
    NDUFA11 100.00 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA3 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF5 99.96 0 No comment
    NDUFAF6 95.61 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 99.96 0 No comment
    NDUFS7 93.34 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 99.62 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 100.00 0 No comment
    NEFH 81.41 0 No comment
    NEFL 100.00 0 No comment
    NEK1 99.98 0 No comment
    NGF 100.00 0 No comment
    NIPA1 92.99 0 No comment
    NT5C2 100.00 0 No comment
    NTRK1 98.36 0 No comment
    NUBPL 99.92 0 No comment
    MED12 99.98 0 No comment
    OPA3 100.00 0 No comment
    OPTN 100.00 0 No comment
    ORAI1 92.14 0 No comment
    P4HA1 100.00 0 No comment
    PABPN1 100.00 0 No comment
    PANK2 100.00 0 No comment
    PDHA1 92.64 0 No comment
    PDK3 97.80 0 No comment
    PDYN 100.00 0 No comment
    PET100 100.00 0 No comment
    PEX1 100.00 0 No comment
    PEX7 95.60 0 No comment
    PFKM 100.00 0 No comment
    PFN1 100.00 0 No comment
    PGAM2 99.97 0 No comment
    PGAP1 100.00 0 No comment
    PGK1 99.88 0 No comment
    PGM1 100.00 0 No comment
    PHKA1 99.99 0 No comment
    PHKB 99.97 0 No comment
    PHOX2A 96.24 0 No comment
    PHYH 99.81 0 No comment
    PIEZO2 100.00 0 No comment
    PIP5K1C 94.98 0 No comment
    PLA2G6 100.00 0 No comment
    PLEC 99.26 0 No comment
    PLEKHG5 100.00 0 No comment
    PLP1 100.00 0 No comment
    PMP2 100.00 0 No comment
    PMP22 100.00 0 No comment
    PNKP 99.84 0 No comment
    PNPLA2 98.21 0 No comment
    PNPLA6 99.95 0 No comment
    PNPLA8 100.00 0 No comment
    POGLUT1 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    POLR3B 100.00 0 No comment
    POMGNT1 100.00 0 No comment
    POMGNT2 100.00 0 No comment
    POMK 100.00 0 No comment
    POMT1 100.00 0 No comment
    POMT2 99.53 0 No comment
    PPP2R2B 100.00 0 No comment
    PRDM12 81.28 0 No comment
    PREPL 99.98 0 No comment
    PRKAG2 95.75 0 No comment
    PRNP 99.92 0 No comment
    PRPH 99.62 0 No comment
    PRPS1 99.91 0 No comment
    PRUNE1 100.00 0 No comment
    PRX 99.89 0 No comment
    PSEN1 100.00 0 No comment
    HACD1 94.60 0 No comment
    CAVIN1 100.00 0 No comment
    PTRH2 99.91 0 No comment
    PUS1 100.00 0 No comment
    PYGM 100.00 0 No comment
    PYROXD1 99.99 0 No comment
    RAB3GAP2 100.00 0 No comment
    RAB7A 100.00 0 No comment
    RAPSN 100.00 0 No comment
    RBCK1 99.76 0 No comment
    RBM7 100.00 0 No comment
    REEP1 100.00 0 No comment
    REEP2 97.04 0 No comment
    RNASEH2B 94.58 0 No comment
    RNASET2 100.00 0 No comment
    RRM2B 100.00 0 No comment
    RTN2 99.44 0 No comment
    RYR1 99.39 0 No comment
    RYR3 100.00 0 No comment
    SACS 99.95 0 No comment
    SBF1 98.38 0 No comment
    SBF2 99.92 0 No comment
    SCN10A 100.00 0 No comment
    SCN11A 99.98 0 No comment
    SCN4A 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SCN9A 99.99 0 No comment
    SCO1 100.00 0 No comment
    SCO2 93.85 0 No comment
    SELENON 84.10 0 No comment
    SEPTIN9 99.38 0 No comment
    SETX 100.00 0 No comment
    SGCA 100.00 0 No comment
    SGCB 91.50 0 No comment
    SGCD 100.00 0 No comment
    SGCE 93.30 0 No comment
    SGCG 100.00 0 No comment
    SGPL1 100.00 0 No comment
    SH3TC2 100.00 0 No comment
    SIGMAR1 92.51 0 No comment
    SIL1 99.95 0 No comment
    SLC12A6 100.00 0 No comment
    SLC16A1 100.00 0 No comment
    SLC16A2 99.97 0 No comment
    SLC18A3 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A15 100.00 0 No comment
    SLC25A20 100.00 0 No comment
    SLC25A4 99.81 0 No comment
    SLC25A42 99.60 0 No comment
    SLC25A46 100.00 0 No comment
    SLC2A1 100.00 0 No comment
    SLC33A1 100.00 0 No comment
    SLC52A2 100.00 0 No comment
    SLC52A3 99.86 0 No comment
    SLC5A7 100.00 0 No comment
    SMCHD1 100.00 0 No comment
    SMN1 100.00 0 No comment
    SNAP25 100.00 0 No comment
    SOD1 100.00 0 No comment
    SOX10 95.36 0 No comment
    SPAST 99.83 0 No comment
    SPEG 98.78 0 No comment
    SPG11 100.00 0 No comment
    SPART 100.00 0 No comment
    SPG21 100.00 0 No comment
    SPG7 95.78 0 No comment
    SPR 99.98 0 No comment
    SPTBN4 98.07 0 No comment
    SPTLC1 99.27 0 No comment
    SPTLC2 96.43 0 No comment
    SQSTM1 94.05 0 No comment
    SRPK3 98.13 0 No comment
    STAC3 100.00 0 No comment
    STIM1 100.00 0 No comment
    SUCLA2 99.86 0 No comment
    SUCLG1 93.27 0 No comment
    SUN1 100.00 0 No comment
    SURF1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYT2 99.96 0 No comment
    TACO1 99.66 0 No comment
    TANGO2 99.94 0 No comment
    TARDBP 100.00 0 No comment
    TARS2 100.00 0 No comment
    WWTR1 97.30 0 No comment
    TBCE 100.00 0 No comment
    TBK1 99.99 0 No comment
    TCAP 100.00 0 No comment
    TDP1 100.00 0 No comment
    TECPR2 99.92 0 No comment
    TFG 99.98 0 No comment
    TGM6 100.00 0 No comment
    TH 98.79 0 No comment
    TIA1 100.00 0 No comment
    TK2 100.00 0 No comment
    TMEM43 100.00 0 No comment
    RXYLT1 100.00 0 No comment
    TMEM65 90.50 0 No comment
    MYMK 100.00 0 No comment
    TNNI2 100.00 0 No comment
    TNNT1 94.05 0 No comment
    TNNT3 100.00 0 No comment
    TNPO3 100.00 0 No comment
    TOR1A 99.70 0 No comment
    TOR1AIP1 100.00 0 No comment
    TPI1 99.90 0 No comment
    TPM2 100.00 0 No comment
    TPM3 98.74 0 No comment
    TRAPPC11 99.97 0 No comment
    TRIM2 100.00 0 No comment
    TRIM32 100.00 0 No comment
    TRIM54 96.63 0 No comment
    TRIM63 100.00 0 No comment
    TRIP4 100.00 0 No comment
    TRMT5 100.00 0 No comment
    TRPV4 100.00 0 No comment
    TSFM 86.80 0 No comment
    TTBK2 100.00 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TUBA4A 100.00 0 No comment
    TUBB3 99.01 0 No comment
    TUBB4A 100.00 0 No comment
    TYMP 100.00 0 No comment
    UBA1 100.00 0 No comment
    UBQLN2 99.30 0 No comment
    UNC13A 99.74 0 No comment
    USP8 100.00 0 No comment
    VAMP1 100.00 0 No comment
    VAPB 99.77 0 No comment
    VARS2 100.00 0 No comment
    VCP 97.10 0 No comment
    VMA21 77.99 0 No comment
    VPS33B 100.00 0 No comment
    VPS37A 99.28 0 No comment
    VRK1 100.00 0 No comment
    WARS1 100.00 0 No comment
    WDR45 100.00 0 No comment
    WDR48 100.00 0 No comment
    WNK1 100.00 0 No comment
    XK 99.44 0 No comment
    YARS1 100.00 0 No comment
    YARS2 100.00 0 No comment
    ZC4H2 100.00 0 No comment
    ZFHX2 100.00 0 No comment
    ZFR 100.00 0 No comment
    ZFYVE26 100.00 0 No comment
    ZFYVE27 100.00 0 No comment
  • Neuromuscular disorders (232 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    NEB 88.70 0 NM_001271208.1
    SELENON 92.30 0 NM_020451.2
    TSEN54 97.70 0 NM_207346.2
    DOK7 97.90 0 NM_173660.4
    ORAI1 97.90 0 NM_032790.3
    CRPPA 98.60 0 NM_001101426.3
    PGAM2 98.80 0 NM_000290.3
    AGRN 99.00 0 NM_198576.3
    HSPB1 99.00 0 NM_001540.4
    POMT2 99.00 0 NM_013382.5
    CACNA1H 99.10 0 NM_021098.2
    RYR1 99.10 0 NM_000540.2
    SPTBN4 99.30 0 NM_020971.2
    TNNT1 99.50 0 NM_003283.5
    HSPG2 99.50 0 NM_005529.6
    CAPN3 99.60 0 NM_000070.2
    GMPPB 99.60 0 NM_013334.3
    ACADVL 99.60 0 NM_000018.3
    LAMA5 99.60 0 NM_005560.4
    B3GALNT2 99.70 0 NM_152490.4
    SCN4A 99.70 0 NM_000334.4
    ISCU 99.70 0 NM_213595.3
    MATR3 99.70 0 NM_199189.2
    SLC16A1 99.80 0 NM_003051.3
    COL6A1 99.80 0 NM_001848.2
    CHD8 99.80 0 NM_001170629.1
    RAPSN 99.80 0 NM_005055.4
    CACNA1A 99.80 0 NM_001127221.1
    MYH7B 99.80 0 NM_024729.3
    DCST2 99.80 0 NM_144622.2
    CHRNE 99.80 0 NM_000080.3
    SGCG 99.90 0 NM_000231.2
    DYSF 99.90 0 NM_003494.3
    MYL2 99.90 0 NM_000432.3
    CHRNA1 99.90 0 NM_000079.3
    ECEL1 99.90 0 NM_004826.3
    PNPLA2 99.90 0 NM_020376.3
    FXR1 99.90 0 NM_005087.3
    TTN 99.90 0 NM_133378.4
    PNPLA8 99.90 0 NM_015723.4
    ATP2A1 99.90 0 NM_173201.3
    COL6A2 99.90 0 NM_001849.3
    MYBPC3 99.90 0 NM_000256.3
    VCP 99.90 0 NM_007126.4
    TRDN 99.90 0 NM_006073.3
    GYS1 99.90 0 NM_002103.4
    ALG13 99.90 0 NM_001099922.2
    MYO18B 99.90 0 NM_032608.6
    TK2 99.90 0 NM_004614.4
    PHKB 99.90 0 NM_000293.2
    SYT2 99.90 0 NM_177402.4
    LDHA 99.90 0 NM_005566.3
    LMNA 99.90 0 NM_170707.3
    CFL2 99.90 0 NM_021914.7
    TIA1 100.00 0 NM_022173.3
    MYF6 100.00 0 NM_002469.2
    KCNJ18 100.00 0 NM_001194958.2
    DPM1 100.00 0 NM_003859.2
    HNRNPDL 100.00 0 NM_031372.3
    TPM2 100.00 0 NM_003289.3
    CACNA1S 100.00 0 NM_000069.2
    FLNC 100.00 0 NM_001458.4
    CHRNB1 100.00 0 NM_000747.2
    CCDC78 100.00 0 NM_001031737.2
    ETFA 100.00 0 NM_000126.3
    DNAJB6 100.00 0 NM_058246.3
    DMPK 100.00 0 NM_001081563.2
    CORIN 100.00 0 NM_002334.3
    HACD1 100.00 0 NM_014241.3
    EMD 100.00 0 NM_000117.2
    TRIP4 100.00 0 NM_016213.4
    MYL1 100.00 0 NM_079420.2
    ETFDH 100.00 0 NM_004453.3
    FKRP 100.00 0 NM_024301.4
    DNA2 100.00 0 NM_001080449.2
    PLEC 100.00 0 NM_000445.4
    PABPN1 100.00 0 NM_004643.3
    SPEG 100.00 0 NM_005876.4
    ITGA7 100.00 0 NM_002206.2
    POMT1 100.00 0 NM_007171.3
    GFPT1 100.00 0 NM_002056.3
    SYNE1 100.00 0 NM_033071.3
    LPIN1 100.00 0 NM_145693.3
    ENO3 100.00 0 NM_053013.3
    GOLGA2 100.00 0 NM_004486.4
    CHKB 100.00 0 NM_005198.4
    AMPD1 100.00 0 NM_000036.2
    ACTA1 100.00 0 NM_001100.3
    ACVR1 100.00 0 NM_001105.4
    HADHB 100.00 0 NM_000183.2
    KCNA1 100.00 0 NM_000217.2
    ANO5 100.00 0 NM_213599.2
    INPP5K 100.00 0 NM_016532.3
    SMCHD1 100.00 0 NM_015295.2
    ADSS1 100.00 0 NM_199165.2
    TRIM63 100.00 0 NM_032588.3
    COL13A1 100.00 0 NM_001130103.1
    TOP3A 100.00 0 NM_004618.4
    COL12A1 100.00 0 NM_004370.5
    MYPN 100.00 0 NM_032578.3
    SYNE2 100.00 0 NM_182914.2
    ACTN2 100.00 0 NM_001103.3
    PREPL 100.00 0 NM_006036.4
    MYH3 100.00 0 NM_002470.3
    SGCB 100.00 0 NM_000232.4
    PHKA1 100.00 0 NM_002637.3
    CLCN1 100.00 0 NM_000083.2
    KBTBD13 100.00 0 NM_001101362.2
    CHAT 100.00 0 NM_020549.4
    AGL 100.00 0 NM_000642.2
    MUSK 100.00 0 NM_005592.3
    CASQ1 100.00 0 NM_001231.4
    ACADS 100.00 0 NM_000017.3
    PYGM 100.00 0 NM_005609.3
    GAA 100.00 0 NM_000152.4
    TRAPPC11 100.00 0 NM_021942.5
    MYO9A 100.00 0 NM_006901.3
    COL6A3 100.00 0 NM_004369.3
    DMD 100.00 0 NM_004006.2
    MYH7 100.00 0 NM_000257.3
    MYBPC1 100.00 0 NM_002465.3
    RYR3 100.00 0 NM_001036.4
    ABHD5 100.00 0 NM_016006.5
    ACAD9 100.00 0 NM_014049.4
    ACADL 100.00 0 NM_001608.3
    ACADM 100.00 0 NM_000016.5
    ALDOA 100.00 0 NM_000034.3
    ALG14 100.00 0 NM_144988.3
    ALG2 100.00 0 NM_033087.3
    ATP1A2 100.00 0 NM_000702.3
    B4GAT1 100.00 0 NM_006876.2
    BAG3 100.00 0 NM_004281.3
    BIN1 100.00 0 NM_139343.2
    BVES 100.00 0 NM_007073.4
    CAV3 100.00 0 NM_033337.2
    CAVIN1 100.00 0 NM_012232.5
    CHRND 100.00 0 NM_000751.2
    CHRNG 100.00 0 NM_005199.4
    CNTN1 100.00 0 NM_001843.3
    COLQ 100.00 0 NM_005677.3
    CPT2 100.00 0 NM_000098.2
    CRYAB 100.00 0 NM_001885.2
    DAG1 100.00 0 NM_004393.5
    DES 100.00 0 NM_001927.3
    DNM2 100.00 0 NM_001005360.2
    DOLK 100.00 0 NM_014908.3
    DPAGT1 100.00 0 NM_001382.3
    DPM2 100.00 0 NM_003863.3
    DPM3 100.00 0 NM_153741.1
    ETFB 100.00 0 NM_001985.2
    EXOSC3 100.00 0 NM_016042.3
    CFH 100.00 0 NM_001449.4
    FKBP14 100.00 0 NM_017946.3
    FKTN 100.00 0 NM_001079802.1
    FLAD1 100.00 0 NM_025207.4
    GBE1 100.00 0 NM_000158.3
    GGPS1 100.00 0 NM_001037277.1
    GNE 100.00 0 NM_001128227.2
    GYG1 100.00 0 NM_004130.3
    HADH 100.00 0 NM_005327.4
    HADHA 100.00 0 NM_000182.4
    HINT1 100.00 0 NM_005340.6
    HNRNPA1 100.00 0 NM_031157.3
    HNRNPA2B1 100.00 0 NM_031243.2
    HRAS 100.00 0 NM_005343.3
    HSPB8 100.00 0 NM_014365.2
    KCNE3 100.00 0 NM_005472.4
    KCNJ2 100.00 0 NM_000891.2
    KLHL40 100.00 0 NM_152393.3
    KLHL41 100.00 0 NM_006063.2
    KLHL9 100.00 0 NM_018847.3
    KY 100.00 0 NM_178554.5
    LAMA2 100.00 0 NM_000426.3
    LAMB2 100.00 0 NM_002292.3
    LAMP2 100.00 0 NM_002294.2
    LARGE1 100.00 0 NM_004737.6
    LDB3 100.00 0 NM_001080116.1
    LIMS2 100.00 0 NM_001136037.2
    LMOD3 100.00 0 NM_198271.4
    MAP3K20 100.00 0 NM_016653.2
    MB 100.00 0 NM_005368.2
    MEGF10 100.00 0 NM_032446.2
    MSTN 100.00 0 NM_005259.2
    MTM1 100.00 0 NM_000252.2
    MTMR14 100.00 0 NM_022485.4
    MYH2 100.00 0 NM_017534.5
    MYH8 100.00 0 NM_002472.2
    MYMK 100.00 0 NM_001080483.2
    MYOT 100.00 0 NM_006790.2
    MED12 100.00 0 NM_015560.2
    P4HA1 100.00 0 NM_001017962.2
    PAX7 100.00 0 NM_002584.2
    PDHA1 100.00 0 NM_000284.3
    PFKM 100.00 0 NM_000289.5
    PGK1 100.00 0 NM_000291.3
    PGM1 100.00 0 NM_002633.2
    POGLUT1 100.00 0 NM_152305.2
    POLG 100.00 0 NM_002693.2
    POLG2 100.00 0 NM_007215.3
    POMGNT1 100.00 0 NM_017739.3
    POMGNT2 100.00 0 NM_032806.5
    POMK 100.00 0 NM_032237.4
    POPDC3 100.00 0 NM_022361.4
    PRKAG2 100.00 0 NM_016203.3
    PYROXD1 100.00 0 NM_024854.4
    RBCK1 100.00 0 NM_031229.3
    RXYLT1 100.00 0 NM_014254.2
    SBDS 100.00 0 NM_016038.3
    SGCA 100.00 0 NM_000023.3
    SGCD 100.00 0 NM_000337.5
    SIL1 100.00 0 NM_022464.4
    SLC18A3 100.00 0 NM_003055.2
    SLC22A5 100.00 0 NM_003060.3
    SLC25A20 100.00 0 NM_000387.5
    SLC5A7 100.00 0 NM_021815.4
    SNAP25 100.00 0 NM_130811.3
    SQSTM1 100.00 0 NM_003900.4
    STAC3 100.00 0 NM_145064.2
    STIM1 100.00 0 NM_003156.3
    WWTR1 100.00 0 NM_000116.4
    TCAP 100.00 0 NM_003673.3
    TMEM126B 100.00 0 NM_018480.5
    TMEM43 100.00 0 NM_024334.2
    TNNI2 100.00 0 NM_003282.3
    TNNT3 100.00 0 NM_006757.3
    TNPO3 100.00 0 NM_012470.3
    TOR1AIP1 100.00 0 NM_001267578.1
    TPM3 100.00 0 NM_152263.3
    TRIM32 100.00 0 NM_012210.3
    UNC45B 100.00 0 NM_173167.3
    VAMP1 100.00 0 NM_014231.4
    VMA21 100.00 0 NM_001017980.3
  • Neuromuscular disorders - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD5 99.98 1
    ACAD9 100.00 1
    ACADL 99.11 1
    ACADM 96.14 1
    ACADS 99.99 1
    ACADVL 100.00 1
    ACTA1 99.99 1
    ACTN2 99.99 1
    ACVR1 99.94 1
    ADCY6 99.98 1
    ADGRG6 99.91 1
    ADSS1 99.99 1
    AGL 97.67 1
    AGRN 99.99 1
    ALDOA 100.00 1
    ALG13 99.44 1
    ALG14 99.34 1
    ALG2 100.00 1
    AMPD1 98.94 1
    ANO5 99.85 1
    APOO 99.69 1
    ASAH1 99.90 1
    ASCC1 90.99 1
    ASPH 99.92 1
    ATP2A1 99.83 1
    B3GALNT2 92.79 1
    B4GAT1 100.00 1
    BAG3 100.00 1
    BET1 99.38 1
    BIN1 99.98 1
    BSCL2 99.99 1
    BVES 99.83 1
    CACNA1H 100.00 1
    CACNA1S 99.96 1
    CAPN3 99.99 1
    CASQ1 99.62 1
    CAV3 100.00 1
    CAVIN1 100.00 1
    CCDC78 100.00 1
    CFL2 99.67 1
    CHAT 99.74 1
    CHCHD10 100.00 1
    CHKB 100.00 1
    CHRNA1 99.82 1
    CHRNB1 99.99 1
    CHRND 100.00 1
    CHRNE 100.00 1
    CHRNG 100.00 1
    CLCN1 100.00 1
    CLN3 99.92 1
    CLPP 99.99 1
    CNTN1 99.35 1
    COL12A1 99.85 1
    COL13A1 99.95 1
    COL4A1 99.99 1
    COL6A1 99.99 1
    COL6A2 100.00 1
    COL6A3 99.99 1
    COL9A3 99.99 1
    COLQ 99.98 1
    CPT2 99.65 1
    CRPPA 99.98 1
    CRYAB 100.00 1
    DAG1 100.00 1
    DES 100.00 1
    DGUOK 99.93 1
    DHX16 99.98 1
    DMD 99.76 1
    DMPK 99.93 1
    DNAJB6 99.97 1
    DNM2 99.99 1
    DNMT3B 99.98 1
    DOK7 99.97 1
    DOLK 100.00 1
    DPAGT1 100.00 1
    DPM1 90.68 1
    DPM2 100.00 1
    DPM3 99.98 1
    DYSF 99.95 1
    ECEL1 100.00 1
    EMD 99.93 1
    ENO3 100.00 1
    EPG5 99.95 1
    ETFA 99.88 1
    ETFB 100.00 1
    ETFDH 99.82 1
    FAM111B 99.98 1
    FDX2 99.99 1
    CFH 99.97 1
    FKBP14 99.97 1
    FKRP 100.00 1
    FKTN 99.94 1
    FLAD1 99.98 1
    FLNC 99.99 1
    FXR1 99.82 1
    GAA 100.00 1
    GBE1 99.73 1
    GFER 100.00 1
    GFPT1 99.79 1
    GGPS1 99.95 1
    GLDN 99.98 1
    GLE1 99.99 1
    GMPPB 100.00 1
    GNE 99.99 1
    GOLGA2 100.00 1
    GOSR2 98.92 1
    GYG1 99.85 1
    GYS1 99.98 1
    HACD1 99.98 1
    HADHA 99.98 1
    HADHB 99.82 1
    HEXB 99.91 1
    HNRNPA1 62.92 1
    HNRNPA2B1 99.90 1
    HNRNPDL 99.98 1
    HRAS 100.00 1
    HSPB1 99.97 1
    HSPB3 99.97 1
    HSPB8 100.00 1
    HSPG2 99.87 1
    HTRA2 99.99 1
    INPP5K 99.94 1
    ISCU 99.74 1
    ITGA7 99.87 1
    KBTBD13 100.00 1
    KLHL40 99.96 1
    KLHL41 99.96 1
    KLHL9 100.00 1
    KY 99.97 1
    LAMA2 99.95 1
    LAMA5 99.99 1
    LAMB2 99.99 1
    LAMP2 98.95 1
    LARGE1 100.00 1
    LARS2 99.96 1
    LAS1L 99.97 1
    LDB3 99.91 1
    LDHA 99.94 1
    LGI4 99.98 1
    LIMS2 99.97 1
    LMNA 99.96 1
    LMOD3 99.91 1
    LOXL4 99.92 1
    LPIN1 99.96 1
    LRIF1 99.82 1
    CORIN 99.89 1
    MAP3K20 99.84 1
    MB 99.99 1
    MCOLN1 100.00 1
    MEGF10 99.91 1
    MET 99.97 1
    MICU1 99.56 1
    MPDU1 99.97 1
    MRPS25 99.97 1
    MSTN 99.96 1
    MSTO1 76.34 1
    MTM1 99.76 1
    MTMR14 99.99 1
    MUSK 99.93 1
    MYBPC1 99.77 1
    MYBPC3 99.98 1
    MYF5 99.99 1
    MYH7B 99.98 1
    MYH2 99.98 1
    MYH3 99.99 1
    MYH7 99.99 1
    MYH8 100.00 1
    MYL1 99.75 1
    MYL2 99.99 1
    MYMK 99.88 1
    MYO18B 99.98 1
    MYO9A 99.93 1
    MYOT 99.93 1
    MYPN 99.88 1
    NEB 87.33 1
    NEFL 100.00 1
    ORAI1 99.63 1
    PABPN1 99.99 1
    PAX7 99.83 1
    PEX6 99.99 1
    PFKM 99.57 1
    PGAM2 100.00 1
    PGK1 99.93 1
    PGM1 96.77 1
    PHKA1 99.84 1
    PHKB 99.69 1
    PIEZO2 98.45 1
    PLEC 100.00 1
    PNPLA2 100.00 1
    PNPLA8 99.92 1
    POGLUT1 99.99 1
    POLG 100.00 1
    POLG2 99.51 1
    POMGNT1 99.69 1
    POMGNT2 100.00 1
    POMK 100.00 1
    POMT1 99.96 1
    POMT2 99.98 1
    POPDC3 99.96 1
    PREPL 99.63 1
    PRKAG2 99.96 1
    PTRH2 99.99 1
    PUS1 100.00 1
    PYGM 99.96 1
    PYROXD1 99.77 1
    RAPSN 99.97 1
    RBCK1 100.00 1
    RRM2B 99.97 1
    RXYLT1 99.48 1
    RYR1 99.97 1
    RYR3 99.98 1
    SCN4A 99.98 1
    SELENON 93.61 1
    SGCA 100.00 1
    SGCB 99.95 1
    SGCD 100.00 1
    SGCG 99.99 1
    SIL1 99.95 1
    SLC16A1 99.26 1
    SLC18A3 99.99 1
    SLC22A5 99.99 1
    SLC25A1 99.93 1
    SLC25A20 100.00 1
    SLC25A4 100.00 1
    SLC25A42 99.99 1
    SLC5A7 99.57 1
    SMCHD1 99.83 1
    SMPX 99.80 1
    SNAP25 99.89 1
    SPEG 99.99 1
    SPTBN4 99.91 1
    SQSTM1 100.00 1
    STAC3 99.91 1
    STIM1 99.99 1
    SUCLA2 99.96 1
    SVIL 99.98 1
    SYNE1 99.95 1
    SYNE2 99.95 1
    SYT2 99.93 1
    TARDBP 100.00 1
    TCAP 100.00 1
    TFAM 99.24 1
    TIA1 99.72 1
    TIMM22 100.00 1
    TK2 99.96 1
    TMEM43 99.96 1
    TMEM65 99.93 1
    TNNC2 99.99 1
    TNNI2 99.99 1
    TNNT1 99.82 1
    TNNT3 100.00 1
    TNPO3 99.96 1
    TNXB 90.86 1
    TOR1AIP1 98.45 1
    TPM2 100.00 1
    TPM3 83.21 1
    TRAPPC11 99.93 1
    TRIM32 100.00 1
    TRIM54 89.88 1
    TRIP4 99.97 1
    TSEN54 100.00 1
    TSFM 100.00 1
    TTN 99.15 1
    TYMP 99.87 1
    UNC45B 100.00 1
    VAMP1 100.00 1
    VCP 99.99 1
    VMA21 99.90 1
    VPS33B 99.95 1
    YARS2 99.93 1
    ZBTB42 100.00 1
    ZC4H2 99.98 1