1. Analytes
  2. TUBA4A

TUBA4A

Analyte Export to PDF
Name:
tubulin alpha 4a
Symbol:
TUBA4A
XREF(s):
OMIM
HGNC
ORPHANET
Created:
23 Jun 2020 - 10:35
Changed:
23 Jun 2020 - 10:35
  • Amyotrophic Lateral Sclerosis (ALS) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ALS2 99.87 1
    ANG 100.00 1
    ANXA11 99.71 1
    CCNF 99.99 1
    CHCHD10 100.00 1
    CHMP2B 99.80 1
    DCTN1 99.98 1
    ERBB4 99.92 1
    FIG4 99.83 1
    FUS 99.93 1
    GRN 100.00 1
    HNRNPA1 62.92 1
    HNRNPA2B1 99.90 1
    KIF5A 99.91 1
    MATR3 99.86 1
    NEFH 100.00 1
    NEK1 99.83 1
    OPTN 99.98 1
    PFN1 74.59 1
    SETX 99.97 1
    SIGMAR1 99.99 1
    SLC52A1 100.00 1
    SLC52A2 100.00 1
    SLC52A3 99.94 1
    SOD1 99.97 1
    SPG11 99.89 1
    SQSTM1 100.00 1
    TAF15 99.91 1
    TARDBP 100.00 1
    TBK1 99.07 1
    TUBA4A 100.00 1
    UBQLN2 100.00 1
    UNC13A 99.99 1
    VAPB 100.00 1
    VCP 99.99 1
    LYST 99.87 1
    GLE1 99.99 -2
    SORD 85.52 -2
    SPTLC1 99.74 -2
  • 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
  • Neurodegeneration (99 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    APP 100.00 1 NM_000484.4
    ATP13A2 100.00 1 NM_022089.4
    CHMP2B 100.00 1 NM_014043.4
    DCTN1 100.00 1 NM_004082.4
    ERBB4 100.00 1 NM_005235.3
    FIG4 100.00 1 NM_014845.6
    FUS 100.00 1 NM_004960.4
    GBA1 100.00 1 NM_000157.4
    GRN 100.00 1 NM_002087.3
    KIF5A 100.00 1 NM_004984.4
    LRRK2 100.00 1 NM_198578.4
    MAPT 100.00 1 NM_001123066.3
    MATR3 100.00 1 NM_018834.6
    NEFH 100.00 1 NM_021076.4
    NEK1 100.00 1 NM_001199397.3
    NOTCH3 100.00 1 NM_000435.3
    OPTN 100.00 1 NM_001008212.2
    PARK7 100.00 1 NM_007262.5
    PFN1 100.00 1 NM_005022.4
    PINK1 100.00 1 NM_032409.3
    PRKN 100.00 1 NM_004562.3
    PRNP 100.00 1 NM_000311.5
    PRPH 100.00 1 NM_006262.4
    PSEN1 100.00 1 NM_000021.4
    PSEN2 100.00 1 NM_000447.3
    SETX 100.00 1 NM_015046.7
    SIGMAR1 100.00 1 NM_005866.4
    SNCA 100.00 1 NM_000345.4
    SOD1 100.00 1 NM_000454.5
    SPG11 100.00 1 NM_025137.4
    TARDBP 100.00 1 NM_007375.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    VCP 100.00 1 NM_007126.5
    AARS2 100.00 1 NM_020745.4
    ABAT 100.00 1 NM_020686.6
    ABCB7 100.00 1 NM_001271696.3
    ABCD1 100.00 1 NM_000033.4
    ADPRS 100.00 1 NM_017825.3
    AFG3L2 100.00 1 NM_006796.3
    AP5Z1 100.00 1 NM_014855.3
    APOE 100.00 1 NM_000041.4
    ARSA 100.00 1 NM_000487.6
    ATP1A3 100.00 1 NM_152296.5
    ATP6AP2 100.00 1 NM_005765.3
    C19ORF12 100.00 1 NM_031448.6
    C9ORF72 100.00 1 NM_018325.5
    CCNF 100.00 1 NM_001761.3
    CHCHD10 100.00 1 NM_213720.3
    CHCHD2 100.00 1 NM_016139.4
    CLN3 100.00 1 NM_001042432.2
    CLN5 100.00 1 NM_006493.4
    CLN6 100.00 1 NM_017882.3
    CLN8 100.00 1 NM_018941.4
    COA7 100.00 1 NM_023077.3
    COASY 100.00 1 NM_025233.7
    CRAT 100.00 1 NM_000755.5
    CSF1R 100.00 1 NM_005211.3
    CTSD 100.00 1 NM_001909.5
    CTSF 100.00 1 NM_003793.4
    DNAJC13 100.00 1 NM_015268.4
    DNAJC5 100.00 1 NM_025219.3
    DNAJC6 100.00 1 NM_001256864.2
    EIF4G1 100.00 1 NM_198241.3
    FA2H 100.00 1 NM_024306.5
    FBXO7 100.00 1 NM_012179.4
    FTL 100.00 1 NM_000146.4
    FXN 100.00 1 NM_000144.5
    GCH1 100.00 1 NM_000161.3
    GIGYF2 100.00 1 NM_001103146.3
    GLUD2 100.00 1 NM_012084.4
    GRID2 100.00 1 NM_001510.4
    IREB2 100.00 1 NM_004136.4
    ITM2B 100.00 1 NM_021999.5
    KLC4 100.00 1 NM_201521.3
    MFSD8 100.00 1 NM_001371596.2
    NPC1 100.00 1 NM_000271.5
    NPC2 100.00 1 NM_006432.5
    PANK2 100.00 1 NM_153638.3
    PGAP1 100.00 1 NM_024989.4
    PLA2G6 100.00 1 NM_003560.4
    PODXL 94.00 1 NM_001018111.3
    POLG 100.00 1 NM_001126131.2
    PPT1 100.00 1 NM_000310.4
    RAB18 100.00 1 NM_021252.5
    REPS1 100.00 1 NM_001286611.1
    SLC6A3 100.00 1 NM_001044.5
    SPG21 100.00 1 NM_016630.7
    SQSTM1 100.00 1 NM_003900.5
    SYNJ1 100.00 1 NM_003895.3
    TBK1 100.00 1 NM_013254.4
    UBTF 100.00 1 NM_014233.4
    UCHL1 100.00 1 NM_004181.5
    VPS13C 100.00 1 NM_020821.3
    VPS35 100.00 1 NM_018206.6
    WDR45 100.00 1 NM_001029896.2
  • 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
  • Neuropathy (148 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 1 NM_001605.3
    ABHD12 100.00 1 NM_001042472.3
    AIFM1 100.00 1 NM_004208.4
    APTX 100.00 1 NM_001195248.2
    ARHGEF10 100.00 1 NM_014629.4
    ATL1 100.00 1 NM_015915.5
    ATP1A1 100.00 1 NM_000701.8
    ATP7A 100.00 1 NM_000052.7
    BICD2 100.00 1 NM_001003800.2
    BSCL2 100.00 1 NM_001122955.3
    MTRFR 100.00 1 NM_152269.5
    COX6A1 100.00 1 NM_004373.4
    CTDP1 100.00 1 NM_004715.5
    DCTN1 100.00 1 NM_004082.4
    DHTKD1 100.00 1 NM_018706.7
    DNAJB2 100.00 1 NM_006736.6
    DNM2 100.00 1 NM_001005361.3
    DNMT1 99.93 1 NM_001130823.3
    DST 100.00 1 NM_001144770.2
    DYNC1H1 100.00 1 NM_001376.5
    EGR2 100.00 1 NM_000399.5
    ELP1 100.00 1 NM_003640.5
    FBLN5 100.00 1 NM_006329.3
    FBXO38 100.00 1 NM_205836.3
    FGD4 100.00 1 NM_001304480.1
    FIG4 100.00 1 NM_014845.6
    GAN 100.00 1 NM_022041.3
    GARS1 100.00 1 NM_002047.4
    GDAP1 100.00 1 NM_018972.4
    GJB1 100.00 1 NM_000166.6
    GJB3 100.00 1 NM_024009.3
    GNB4 100.00 1 NM_021629.4
    HARS1 100.00 1 NM_002109.6
    HINT1 100.00 1 NM_005340.7
    HK1 100.00 1 NM_001358263.1
    HOXD10 100.00 1 NM_002148.4
    HSPB1 100.00 1 NM_001540.5
    HSPB3 100.00 1 NM_006308.3
    HSPB8 100.00 1 NM_014365.3
    IFRD1 100.00 1 NM_001007245.2
    IGHMBP2 100.00 1 NM_002180.3
    INF2 99.00 1 NM_022489.4
    KARS1 100.00 1 NM_001130089.1
    KIF1A 100.00 1 NM_001244008.1
    KIF1B 100.00 1 NM_015074.3
    KIF5A 100.00 1 NM_004984.4
    LITAF 100.00 1 NM_001136472.1
    LMNA 100.00 1 NM_170707.4
    LRSAM1 100.00 1 NM_001005373.3
    MARS1 100.00 1 NM_004990.4
    MED25 100.00 1 NM_030973.3
    MFN2 100.00 1 NM_014874.4
    MME 100.00 1 NM_007289.4
    MORC2 100.00 1 NM_001303256.3
    MPZ 100.00 1 NM_000530.8
    MTMR2 100.00 1 NM_016156.6
    MYH14 100.00 1 NM_001145809.2
    NAGLU 100.00 1 NM_000263.4
    NDRG1 100.00 1 NM_006096.4
    NEFH 100.00 1 NM_021076.4
    NEFL 100.00 1 NM_006158.5
    NGF 100.00 1 NM_002506.3
    NTRK1 100.00 1 NM_002529.3
    PDK3 100.00 1 NM_001142386.3
    PEX1 100.00 1 NM_000466.3
    PEX7 100.00 1 NM_000288.4
    PHYH 100.00 1 NM_006214.4
    PLEKHG5 100.00 1 NM_001265592.1
    PMP22 100.00 1 NM_000304.4
    POLG 100.00 1 NM_001126131.2
    PRDM12 98.36 1 NM_021619.3
    PRPS1 100.00 1 NM_002764.4
    PRX 100.00 1 NM_181882.3
    RAB7A 100.00 1 NM_004637.6
    REEP1 100.00 1 NM_001371279.1
    RETREG1 100.00 1 NM_001034850.2
    SBF1 100.00 1 NM_002972.4
    SBF2 100.00 1 NM_030962.3
    SCN11A 100.00 1 NM_001349253.2
    SCN9A 100.00 1 NM_001365536.1
    SCO2 100.00 1 NM_005138.3
    SETX 100.00 1 NM_015046.7
    SH3TC2 100.00 1 NM_024577.4
    SLC12A6 100.00 1 NM_001365088.1
    SLC5A7 100.00 1 NM_021815.5
    SOX10 100.00 1 NM_006941.4
    SPG11 100.00 1 NM_025137.4
    SPTLC1 100.00 1 NM_006415.4
    SPTLC2 100.00 1 NM_004863.3
    TDP1 100.00 1 NM_018319.4
    TECPR2 100.00 1 NM_014844.5
    TFG 100.00 1 NM_006070.6
    TRIM2 100.00 1 NM_015271.5
    TRPV4 100.00 1 NM_021625.5
    TTR 100.00 1 NM_000371.4
    TUBB3 100.00 1 NM_006086.4
    TYMP 100.00 1 NM_001257989.1
    VCP 100.00 1 NM_007126.5
    WNK1 100.00 1 NM_018979.4
    YARS1 100.00 1 NM_003680.3
    AAAS 100.00 1 NM_015665.6
    ALS2 100.00 1 NM_020919.4
    ANG 100.00 1 NM_001145.4
    ANXA11 100.00 1 NM_145868.2
    ATL3 100.00 1 NM_015459.5
    CNTNAP1 100.00 1 NM_003632.3
    COA8 100.00 1 NM_001370595.1
    COL4A1 100.00 1 NM_001845.6
    DCAF8 100.00 1 NM_015726.4
    DCX 100.00 1 NM_001195553.2
    ERBB4 100.00 1 NM_005235.3
    FUS 100.00 1 NM_004960.4
    GBF1 100.00 1 NM_004193.3
    GCH1 100.00 1 NM_000161.3
    GLA 100.00 1 NM_000169.3
    HTRA1 100.00 1 NM_002775.5
    KLC2 100.00 1 NM_001134775.1
    MATR3 100.00 1 NM_018834.6
    MCM3AP 100.00 1 NM_003906.5
    MPV17 100.00 1 NM_002437.5
    NEK1 100.00 1 NM_001199397.3
    NFASC 100.00 1 NM_001005388.2
    OPTN 100.00 1 NM_001008212.2
    PDXK 100.00 1 NM_003681.5
    PFN1 100.00 1 NM_005022.4
    PMP2 100.00 1 NM_002677.5
    PNKP 100.00 1 NM_007254.4
    PRPH 100.00 1 NM_006262.4
    PTRH2 100.00 1 NM_016077.5
    SCN10A 100.00 1 NM_006514.3
    SEPTIN9 100.00 1 NM_001113491.2
    SGPL1 100.00 1 NM_003901.4
    SIGMAR1 100.00 1 NM_005866.4
    SLC25A46 100.00 1 NM_138773.4
    SMN1 6.96 1 NM_000344.3
    SOD1 100.00 1 NM_000454.5
    SORD 94.98 1 NM_003104.6
    SQSTM1 100.00 1 NM_003900.5
    SURF1 100.00 1 NM_003172.4
    SYT2 100.00 1 NM_177402.5
    TARDBP 100.00 1 NM_007375.4
    TIA1 100.00 1 NM_022173.4
    TRPA1 100.00 1 NM_007332.3
    TUBA1A 100.00 1 NM_006009.4
    TUBA4A 100.00 1 NM_006000.3
    UBQLN2 100.00 1 NM_013444.3
    VAPB 100.00 1 NM_004738.5
    WARS1 100.00 1 NM_004184.4