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BOR syndrome

Disease Export to PDF
Name:
BOR syndrome
Description:
A rare otomandibular dysplasia syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), malformations of the ear associated with hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
ORPHAcode:
107
Synonyms:
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
XREF(s):
Orphanet
MeSH
OMIM
OMIM
ICD-10
MedDRA
Analyte(s):
SIX1
EYA1
SIX5
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 100.00 1 NM_000789.4
    ACTG2 100.00 1 NM_001615.4
    AGT 100.00 1 NM_001384479.1
    AGTR1 100.00 1 NM_000685.5
    ANOS1 100.00 1 NM_000216.4
    BMP4 100.00 1 NM_001202.6
    BMP7 100.00 1 NM_001719.3
    CDC5L 100.00 1 NM_001253.4
    CHD1L 100.00 1 NM_004284.6
    CHD7 100.00 1 NM_017780.4
    DSTYK 100.00 1 NM_015375.3
    EYA1 100.00 1 NM_000503.6
    FGF20 100.00 1 NM_019851.3
    FRAS1 100.00 1 NM_025074.7
    FREM1 100.00 1 NM_001379081.2
    FREM2 100.00 1 NM_207361.6
    GATA3 100.00 1 NM_001002295.2
    GLI3 100.00 1 NM_000168.6
    GREB1L 100.00 1 NM_001142966.3
    GRIP1 100.00 1 NM_001366722.1
    HNF1B 100.00 1 NM_000458.4
    ITGA8 100.00 1 NM_003638.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP3 100.00 1 NM_153240.5
    PAX2 100.00 1 NM_000278.5
    PBX1 100.00 1 NM_002585.4
    REN 100.00 1 NM_000537.4
    RET 100.00 1 NM_020975.6
    ROBO2 100.00 1 NM_001395656.1
    RPGRIP1L 96.00 1 NM_015272.5
    SALL1 100.00 1 NM_002968.3
    SALL4 100.00 1 NM_020436.5
    SIX1 100.00 1 NM_005982.4
    SIX2 100.00 1 NM_016932.5
    SIX5 100.00 1 NM_175875.5
    SOX17 100.00 1 NM_022454.4
    TBX18 100.00 1 NM_001080508.3
    UMOD 100.00 1 NM_003361.4
    UPK3A 100.00 1 NM_006953.4
    WNT4 100.00 1 NM_030761.5
    AGTR2 100.00 1 NM_000686.5
    AGXT 100.00 1 NM_000030.3
    BNC2 100.00 1 NM_017637.6
    CCNQ 100.00 1 NM_152274.5
    CEP55 100.00 1 NM_018131.5
    CHRM3 100.00 1 NM_001375978.1
    CHRNA3 100.00 1 NM_000743.5
    CTU2 100.00 1 NM_001012759.3
    FOXC1 100.00 1 NM_001453.3
    GPC3 100.00 1 NM_004484.4
    HOXA13 100.00 1 NM_000522.5
    HPSE2 100.00 1 NM_021828.5
    JAG1 100.00 1 NM_000214.3
    KIF14 100.00 1 NM_014875.3
    LIFR 100.00 1 NM_001127671.2
    LRIG2 100.00 1 NM_014813.3
    LRP4 100.00 1 NM_002334.4
    NADSYN1 100.00 1 NM_018161.5
    ROBO1 100.00 1 NM_002941.4
    SDCCAG8 100.00 1 NM_006642.5
    SLIT2 100.00 1 NM_004787.4
    STRA6 100.00 1 NM_022369.4
    TBC1D1 100.00 1 NM_001396959.1
    TFAP2A 100.00 1 NM_001372066.1
    TMEM260 100.00 1 NM_017799.4
    TRAP1 100.00 1 NM_016292.3
    WFS1 100.00 1 NM_006005.3
    ZIC3 100.00 1 NM_003413.4
    ZMYM2 100.00 1 NM_197968.4
  • Cataract - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABHD12 99.98 1
    ADAMTSL4 99.66 1
    AGK 99.99 1
    ALDH18A1 99.96 1
    B3GLCT 99.90 1
    BCOR 99.97 1
    BEST1 99.86 1
    BFSP1 100.00 1
    BFSP2 99.09 1
    CHMP4B 99.96 1
    COL11A1 90.72 1
    COL18A1 99.99 1
    COL2A1 99.87 1
    CRYAA 19.49 1
    CRYAB 100.00 1
    CRYBA1 99.99 1
    CRYBA2 100.00 1
    CRYBA4 100.00 1
    CRYBB1 99.46 1
    CRYBB2 99.94 1
    CRYBB3 99.99 1
    CRYGB 99.99 1
    CRYGC 100.00 1
    CRYGD 100.00 1
    CRYGS 100.00 1
    CTDP1 99.97 1
    CYP27A1 100.00 1
    CYP51A1 97.82 1
    DNMBP 99.94 1
    EPG5 99.95 1
    EPHA2 99.99 1
    EYA1 99.81 1
    HYCC1 99.81 1
    FBN1 99.85 1
    FOXE3 99.29 1
    FTL 99.99 1
    FYCO1 100.00 1
    FZD4 100.00 1
    GALK1 100.00 1
    GALT 100.00 1
    GCNT2 100.00 1
    GJA1 100.00 1
    GJA3 100.00 1
    GJA8 99.99 1
    HMX1 100.00 1
    HSF4 99.98 1
    INPP5K 99.94 1
    INTS1 100.00 1
    JAM3 100.00 1
    LCAT 99.97 1
    LEMD2 100.00 1
    LIM2 100.00 1
    LSS 99.98 1
    MAF 99.73 1
    MIPEP 99.98 1
    MIR184 100.00 1
    MYH9 99.95 1
    NDP 99.98 1
    NF2 100.00 1
    NHS 99.96 1
    OCRL 99.89 1
    OPA3 100.00 1
    P3H2 99.93 1
    PANK4 100.00 1
    PAX6 99.95 1
    PITX3 100.00 1
    PXDN 100.00 1
    RRAGA 100.00 1
    SIL1 99.95 1
    SIPA1L3 99.97 1
    SLC16A12 100.00 1
    SLC33A1 99.67 1
    TDRD7 99.87 1
    UNC45B 100.00 1
    VIM 100.00 1
    VSX2 99.99 1
    WFS1 99.99 1
  • Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS9 100.00 1 NM_182920.2
    ALG8 100.00 1 NM_024079.5
    ANKS6 100.00 1 NM_173551.5
    ARL6 100.00 1 NM_001278293.3
    BBIP1 100.00 1 NM_001195305.3
    BBS1 100.00 1 NM_024649.5
    BBS10 100.00 1 NM_024685.4
    BBS12 100.00 1 NM_152618.3
    BBS2 100.00 1 NM_031885.5
    BBS4 100.00 1 NM_033028.5
    BBS5 100.00 1 NM_152384.3
    BBS7 100.00 1 NM_176824.3
    BBS9 100.00 1 NM_198428.3
    CDC73 100.00 1 NM_024529.5
    CEP164 100.00 1 NM_014956.5
    CEP290 100.00 1 NM_025114.4
    CEP83 100.00 1 NM_016122.3
    COL4A1 100.00 1 NM_001845.6
    COL4A3 100.00 1 NM_000091.5
    COL4A4 100.00 1 NM_000092.5
    COL4A5 100.00 1 NM_033380.3
    DCDC2 100.00 1 NM_016356.5
    DNAJB11 100.00 1 NM_016306.6
    DZIP1L 100.00 1 NM_173543.3
    EYA1 100.00 1 NM_000503.6
    FAN1 100.00 1 NM_014967.5
    FH 100.00 1 NM_000143.4
    FLCN 100.00 1 NM_144997.7
    GANAB 100.00 1 NM_198334.3
    GATA3 100.00 1 NM_001002295.2
    GATM 100.00 1 NM_001482.3
    GLIS2 100.00 1 NM_032575.3
    HNF1B 100.00 1 NM_000458.4
    IFT172 100.00 1 NM_015662.3
    IFT27 100.00 1 NM_001177701.3
    INVS 100.00 1 NM_014425.5
    IQCB1 100.00 1 NM_001023570.4
    LRP5 100.00 1 NM_002335.4
    LRP6 100.00 1 NM_002336.3
    LZTFL1 100.00 1 NM_020347.4
    MAPKBP1 100.00 1 NM_014994.3
    MET 100.00 1 NM_000245.4
    MKKS 100.00 1 NM_170784.3
    MKS1 100.00 1 NM_017777.4
    NEK8 100.00 1 NM_178170.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP1 100.00 1 NM_001128178.3
    NPHP3 100.00 1 NM_153240.5
    NPHP4 100.00 1 NM_015102.5
    OFD1 100.00 1 NM_003611.3
    PAX2 100.00 1 NM_000278.5
    PKD1 100.00 1 NM_001009944.3
    PKD2 100.00 1 NM_000297.4
    PKHD1 100.00 1 NM_138694.4
    PMM2 0.00 1 NM_000303.2 une seule position
    PRKCSH 100.00 1 NM_001289104.2
    PTEN 100.00 1 NM_000314.8
    REN 100.00 1 NM_000537.4
    RPGRIP1L 96.00 1 NM_015272.5
    SDCCAG8 100.00 1 NM_006642.5
    SDHB 100.00 1 NM_003000.3
    SDHD 100.00 1 NM_003002.4
    SEC61A1 100.00 1 NM_013336.4
    SEC63 100.00 1 NM_007214.5
    TMEM67 100.00 1 NM_153704.6
    TRIM32 100.00 1 NM_012210.4
    TSC1 100.00 1 NM_000368.5
    TSC2 100.00 1 NM_000548.5
    TTC21B 100.00 1 NM_024753.5
    TTC8 100.00 1 NM_144596.4
    UMOD 100.00 1 NM_003361.4
    VHL 100.00 1 NM_000551.4
    WDPCP 100.00 1 NM_015910.7
    WDR19 100.00 1 NM_025132.4
    XPNPEP3 100.00 1 NM_022098.4
    ZNF423 100.00 1 NM_001379286.1
    AHI1 100.00 1 NM_001134831.2
    ALG5 100.00 1 NM_013338.5
    ALG9 100.00 1 NM_024740.2
    ARL13B 100.00 1 NM_001174150.2
    ARL3 100.00 1 NM_004311.4
    ARMC9 100.00 1 NM_001352754.2
    ATXN10 100.00 1 NM_013236.4
    B9D1 100.00 1 NM_015681.6
    B9D2 100.00 1 NM_030578.4
    BAP1 100.00 1 NM_004656.4
    C2CD3 100.00 1 NM_001286577.2
    CC2D2A 100.00 1 NM_001378615.1
    CCDC28B 100.00 1 NM_024296.5
    CEP104 100.00 1 NM_014704.4
    CEP120 100.00 1 NM_001375405.1
    CEP41 100.00 1 NM_018718.3
    CFAP418 100.00 1 NM_177965.4
    CPLANE1 100.00 1 NM_001384732.1
    CSPP1 100.00 1 NM_001382391.1
    CYP24A1 100.00 1 NM_000782.5
    DLG5 100.00 1 NM_004747.4
    DYNC2H1 100.00 1 NM_001377.3
    DYNC2I1 100.00 1 NM_018051.5
    DYNC2I2 100.00 1 NM_052844.4
    DYNC2LI1 100.00 1 NM_016008.4
    DYNLT2B 100.00 1 NM_152773.5
    EVC 100.00 1 NM_153717.3
    EVC2 100.00 1 NM_147127.5
    FAM149B1 100.00 1 NM_173348.2
    HNF1A 100.00 1 NM_000545.8
    HYLS1 100.00 1 NM_001134793.2
    IFT122 100.00 1 NM_052989.3
    IFT140 100.00 1 NM_014714.4
    IFT43 100.00 1 NM_001102564.3
    IFT52 100.00 1 NM_016004.5
    IFT74 100.00 1 NM_025103.4
    IFT80 100.00 1 NM_020800.3
    IFT81 100.00 1 NM_014055.4
    INPP5E 100.00 1 NM_019892.6
    INTU 100.00 1 NM_015693.4
    JAG1 100.00 1 NM_000214.3
    KATNIP 100.00 1 NM_015202.5
    KIAA0586 100.00 1 NM_001329943.3
    KIAA0753 100.00 1 NM_014804.3
    KIF14 100.00 1 NM_014875.3
    KIF7 100.00 1 NM_198525.3
    NEK1 100.00 1 NM_001199397.3
    PARN 100.00 1 NM_002582.4
    PDE6D 100.00 1 NM_002601.4
    PIBF1 100.00 1 NM_006346.4
    POC1B 100.00 1 NM_172240.3
    RNF139 100.00 1 NM_007218.4
    SDHA 100.00 1 NM_004168.4
    SDHC 100.00 1 NM_003001.5
    SEC61B 100.00 1 NM_006808.3
    SLC41A1 100.00 1 NM_173854.6
    SREBF1 100.00 1 NM_004176.5
    SUFU 100.00 1 NM_016169.4
    TCTN1 100.00 1 NM_001082538.3
    TCTN2 100.00 1 NM_024809.5
    TCTN3 100.00 1 NM_015631.6
    TFAP2A 100.00 1 NM_001372066.1
    TMEM107 100.00 1 NM_183065.4
    TMEM138 100.00 1 NM_016464.5
    TMEM216 100.00 1 NM_001173990.3
    TMEM218 100.00 1 NM_001258244.2
    TMEM231 100.00 1 NM_001077418.3
    TMEM237 100.00 1 NM_001044385.3
    TOGARAM1 100.00 1 NM_001308120.2
    TRAF3IP1 100.00 1 NM_015650.4
    TXNDC15 100.00 1 NM_024715.4
    WDR35 100.00 1 NM_020779.4
  • Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACBD5 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTB 99.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ACTG1 99.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALG9 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX1 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ALX3 94.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    AMER1 99.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ANKRD11 97.83 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARCN1 95.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP29 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ARHGAP31 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ASXL1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATR 98.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ATRX 95.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GALT6 73.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GLCT 95.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B3GAT3 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    B4GALT7 93.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BCOR 97.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BMP4 98.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BUB1B 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    C2CD3 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CPLANE1 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CANT1 98.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CASK 95.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CC2D2A 98.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDC45 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDH1 96.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CDKN1C 84.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD1 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHD7 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHRNG 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHST14 97.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CHSY1 93.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CKAP2L 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A1 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL11A2 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL2A1 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A1 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A2 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COL9A3 94.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC10 98.49 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    COLEC11 99.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTCF 98.66 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CTNND1 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX3X 94.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DDX59 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHCR7 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DHODH 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DIS3L2 98.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLG1 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLL4 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DLX4 98.90 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DNMT3B 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DOCK6 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DVL3 98.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2H1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2LI1 98.39 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EBP 98.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDN1 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EDNRA 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EFTUD2 97.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF2S3 97.53 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EIF4A3 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EOGT 89.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EPG5 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SELENOI 98.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESCO2 97.31 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ESRP2 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    EYA1 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM111A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FAM20C 95.32 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FANCL 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FBXO11 97.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGD1 95.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR1 98.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FGFR2 99.27 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNA 98.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FLNB 98.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXC2 91.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXE1 85.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FOXP2 98.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FRAS1 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FREM2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    FTO 99.12 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA3 98.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GATA6 89.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GDF1 74.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GJA1 99.61 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GLI3 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GMNN 96.00 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNAI3 97.68 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GNB1 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GPC3 95.58 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRHL3 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GRIP1 99.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    GYPE 96.86 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HDAC8 97.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HOXA2 98.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    HYLS1 99.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    CILK1 98.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT140 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT172 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT52 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IFT80 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    BPNT2 98.74 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    INTS1 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    IRF6 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KANSL1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6A 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KAT6B 98.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KCNJ2 99.60 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM1A 97.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KDM6A 94.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WASHC5 98.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIAA0586 93.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIFBP 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF22 98.55 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KIF7 95.81 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    KMT2D 99.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMNA 98.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    LMX1B 99.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAP3K7 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MAPRE2 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MASP1 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MBTPS2 97.08 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED12 97.56 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED13L 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MED25 97.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEIS2 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MEOX1 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    METTL23 99.44 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MID1 97.97 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MKS1 98.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MSX1 97.33 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NBN 98.52 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEDD4L 98.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NEK1 98.70 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NIPBL 98.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NOTCH1 98.71 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NSDHL 98.23 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    OFD1 92.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PAX3 99.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGAP2 99.35 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PGM1 97.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHF8 97.80 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PHGDH 99.01 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIEZO2 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGA 95.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGL 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGN 97.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIGV 99.40 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PIK3R2 91.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLCB4 98.47 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA5 98.64 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PLEKHA7 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1A 98.85 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1C 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POLR1D 94.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT1 99.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    POMT2 98.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PORCN 98.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PQBP1 97.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PSAT1 99.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTCH1 97.93 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    PTDSS1 99.26 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    NECTIN1 99.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RAI1 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RARB 99.16 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM10 96.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBM8A 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RBPJ 99.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ROR2 97.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL11 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPL5 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS17 23.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS19 98.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS26 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RPS28 98.92 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RSPO2 99.51 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    RYR1 97.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SALL4 99.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SATB2 99.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SCARF2 92.67 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SEC23A 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SF3B4 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SHH 96.34 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX1 99.06 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX3 97.42 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SIX5 95.99 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SKI 94.22 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SLC26A2 99.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD2 98.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD3 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMAD4 98.88 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC1A 97.25 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMC3 98.17 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMG9 98.75 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMOC1 99.21 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SMS 92.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SNRPB 98.79 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SON 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX2 98.45 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SOX9 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SPECC1L 99.14 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STAMBP 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STIL 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STRA6 98.13 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    STXBP1 99.15 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    SUMO1 99.29 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX1 78.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX15 99.05 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TBX22 98.10 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCOF1 98.78 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TCTN3 99.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TELO2 98.18 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2A 98.89 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TFAP2B 99.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGDS 98.48 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB2 99.03 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFB3 98.59 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR1 94.09 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TGFBR2 99.19 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TMCO1 94.65 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    MYMK 99.30 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TP63 98.96 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRAPPC9 98.84 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TRIM37 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TSR2 93.37 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TTC21B 98.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TUBB 99.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TWIST2 99.02 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    TXNL4A 99.36 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UBB 99.73 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    UQCC2 99.28 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    USP9X 95.07 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    VAX1 87.54 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR19 98.24 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I2 98.11 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WDR35 98.76 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    DYNC2I1 98.63 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT3 98.41 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    WNT5A 98.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    XYLT1 89.98 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    YAP1 97.50 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZBTB24 99.57 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZEB2 98.72 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC2 87.82 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZIC3 98.69 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZMPSTE24 97.91 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
    ZSWIM6 88.46 0 Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  • Craniosynostosis (32 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASXL1 95.00 0 NM_015338.6/ interpretable range CS1>95%
    COLEC10 95.00 0 NM_006438.5/ interpretable range CS1>95%
    COLEC11 95.00 0 NM_024027.5/ interpretable range CS1>95%
    CYP26B1 95.00 0 NM_019885.4/ interpretable range CS1>95%
    EFNB1 95.00 0 NM_004429.5/ interpretable range CS1>95%
    ERF 95.00 0 NM_006494.4/ interpretable range CS1>95%
    FAM111A 95.00 0 NM_022074.4/ interpretable range CS1>95%
    FGFR1 95.00 0 NM_023110.3/ interpretable range CS1>95%
    FGFR2 95.00 0 NM_000141.5/ interpretable range CS1>95%
    FGFR3 95.00 0 NM_000142.5/ interpretable range CS1>95%
    HNRNPK 95.00 0 NM_002140.5/ interpretable range CS1>95%
    IL11RA 95.00 0 NM_001142784.3/ interpretable range CS1>95%
    IL6ST 95.00 0 NM_002184.4/ interpretable range CS1>95%
    LTBP1 95.00 0 NM_206943.4/ interpretable range CS1>95%
    MASP1 95.00 0 NM_139125.4/ interpretable range CS1>95%
    MEGF8 95.00 0 NM_001410.3/ interpretable range CS1>95%
    MSX2 95.00 0 NM_002449.5/ interpretable range CS1>95%
    POR 95.00 0 NM_001367562.3/ interpretable range CS1>95%
    RAB23 95.00 0 RAB23 NM_183227.3/ interpretable range CS1>95%
    RECQL4 95.00 0 NM_004260.4/ interpretable range CS1>95%
    RUNX2 95.00 0 NM_001024630.4/ interpretable range CS1>95%
    SIX1 95.00 0 NM_005982.4/ interpretable range CS1>95%
    SKI 95.00 0 SKI NM_003036.4/ interpretable range CS1>95%
    SLC25A24 95.00 0 NM_013386.5/ interpretable range CS1>95%
    SMAD6 95.00 0 NM_005585.5/ interpretable range CS1>95%
    SMO 95.00 0 NM_005631.5/ interpretable range CS1>95%
    TCF12 95.00 0 NM_207036.2/ interpretable range CS1>95%
    TFAP2B 95.00 0 NM_003221.4/ interpretable range CS1>95%
    TRAF7 95.00 0 NM_032271.3/ interpretable range CS1>95%
    TWIST1 95.00 0 NM_000474.4/ interpretable range CS1>95%
    ZIC1 95.00 0 NM_003412.4/ interpretable range CS1>95%
    ZNF462 95.00 0 NM_021224.6/ interpretable range CS1>95%
  • test
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS1 100.00 0 No comment
    ABAT 100.00 0 No comment
    ACTB 99.92 0 No comment
    ACTG1 100.00 0 No comment
    ACTL6B 99.16 0 No comment
    ACY1 99.96 0 No comment
    ADAR 99.99 0 No comment
    ADPRS 91.11 0 No comment
    ADSL 99.73 0 No comment
    AFG3L2 95.23 0 No comment
    ALDH7A1 99.83 0 No comment
    ALG11 100.00 0 No comment
    ALG13 95.29 0 No comment
    AMT 100.00 0 No comment
    ANKRD11 99.99 0 No comment
    AP3B2 97.74 0 No comment
    AP4S1 87.73 0 No comment
    ARFGEF2 99.81 0 No comment
    ARHGEF9 99.89 0 No comment
    ARID1B 87.88 0 No comment
    ARV1 89.03 0 No comment
    ARX 59.32 0 No comment
    ASXL3 99.74 0 No comment
    ATN1 99.12 0 No comment
    ATP1A2 99.88 0 No comment
    ATP1A3 99.81 0 No comment
    BRAT1 99.96 0 No comment
    BSCL2 100.00 0 No comment
    CACNA1A 92.18 0 No comment
    CACNA1B 93.35 0 No comment
    CACNA1E 99.99 0 No comment
    CACNA1G 99.63 0 No comment
    CACNA2D2 94.11 0 No comment
    CASK 99.78 0 No comment
    CDK13 88.47 0 No comment
    CDKL5 97.71 0 No comment
    CERS1 76.68 0 No comment
    CERT1 99.89 0 No comment
    CHD2 99.95 0 No comment
    CLCN4 99.94 0 No comment
    CLN3 99.98 0 No comment
    CLN5 97.84 0 No comment
    CLN6 91.00 0 No comment
    CLN8 100.00 0 No comment
    CLTC 100.00 0 No comment
    CNKSR2 99.28 0 No comment
    CNTNAP2 99.99 0 No comment
    COL18A1 96.27 0 No comment
    COL4A1 98.54 0 No comment
    CPLX1 99.70 0 No comment
    CPT2 97.07 0 No comment
    CSNK2B 100.00 0 No comment
    CSTB 92.54 0 No comment
    CTSD 97.90 0 No comment
    CUX2 98.72 0 No comment
    CYFIP2 99.99 0 No comment
    DCX 99.86 0 No comment
    DDX3X 99.66 0 No comment
    DENND5A 98.99 0 No comment
    DEPDC5 99.97 0 No comment
    DHDDS 99.77 0 No comment
    DMXL2 99.86 0 No comment
    DNM1 94.54 0 No comment
    DNM1L 99.97 0 No comment
    DOCK7 99.35 0 No comment
    DYRK1A 100.00 0 No comment
    EEF1A2 91.59 0 No comment
    EHMT1 98.44 0 No comment
    EPM2A 81.75 0 No comment
    FARS2 99.99 0 No comment
    FGF12 100.00 0 No comment
    FLNA 99.50 0 No comment
    FMN2 92.71 0 No comment
    FMR1 99.71 0 No comment
    FOLR1 100.00 0 No comment
    FOXG1 75.13 0 No comment
    FRRS1L 69.11 0 No comment
    FZR1 100.00 0 No comment
    GABBR2 95.14 0 No comment
    GABRA1 100.00 0 No comment
    GABRA2 100.00 0 No comment
    GABRB1 100.00 0 No comment
    GABRB2 100.00 0 No comment
    GABRB3 98.87 0 No comment
    GABRG2 92.15 0 No comment
    GAD1 100.00 0 No comment
    GAMT 95.00 0 No comment
    GBA1 100.00 0 No comment
    GLDC 96.06 0 No comment
    GNAO1 100.00 0 No comment
    GNB1 100.00 0 No comment
    GNB5 99.70 0 No comment
    GOSR2 99.87 0 No comment
    GPHN 100.00 0 No comment
    GRIA2 100.00 0 No comment
    GRIA3 97.93 0 No comment
    GRIK2 99.97 0 No comment
    GRIN1 99.74 0 No comment
    GRIN2A 100.00 0 No comment
    GRIN2B 100.00 0 No comment
    GRIN2D 61.45 0 No comment
    HCN1 93.52 0 No comment
    HECW2 99.99 0 No comment
    HNRNPU 95.95 0 No comment
    HUWE1 99.62 0 No comment
    IER3IP1 99.80 0 No comment
    IFIH1 99.99 0 No comment
    IQSEC2 91.31 0 No comment
    IRF2BPL 91.18 0 No comment
    ITPA 100.00 0 No comment
    KANSL1 99.98 0 No comment
    KARS1 99.99 0 No comment
    KCNA1 100.00 0 No comment
    KCNA2 100.00 0 No comment
    KCNB1 99.01 0 No comment
    KCNC1 99.52 0 No comment
    KCNH1 99.96 0 No comment
    KCNJ10 100.00 0 No comment
    KCNK4 96.68 0 No comment
    KCNMA1 99.92 0 No comment
    KCNQ2 98.57 0 No comment
    KCNQ3 95.56 0 No comment
    KCNQ5 94.69 0 No comment
    KCNT1 97.66 0 No comment
    KCNT2 100.00 0 No comment
    KCTD7 97.74 0 No comment
    KDM5C 99.69 0 No comment
    KIF1A 99.96 0 No comment
    KIF2A 99.83 0 No comment
    KIF5C 99.91 0 No comment
    KMT2E 99.89 0 No comment
    MAP1B 99.93 0 No comment
    MBD5 100.00 0 No comment
    MECP2 91.83 0 No comment
    MED13L 99.94 0 No comment
    MEF2C 100.00 0 No comment
    MFSD8 100.00 0 No comment
    MOCS1 97.59 0 No comment
    MOCS2 100.00 0 No comment
    MTOR 99.89 0 No comment
    NARS2 99.98 0 No comment
    NBEA 98.89 0 No comment
    NEU1 100.00 0 No comment
    NEXMIF 99.96 0 No comment
    NF1 99.55 0 No comment
    NF2 99.93 0 No comment
    NHLRC1 99.28 0 No comment
    NIPA1 84.21 0 No comment
    NPRL2 100.00 0 No comment
    NPRL3 100.00 0 No comment
    NRXN1 98.90 0 No comment
    NTRK2 100.00 0 No comment
    NUS1 98.46 0 No comment
    OTUD6B 99.73 0 No comment
    PACS2 96.45 0 No comment
    PAFAH1B1 100.00 0 No comment
    PARS2 100.00 0 No comment
    PCDH19 99.80 0 No comment
    PHACTR1 97.55 0 No comment
    PIGA 99.89 0 No comment
    PIGN 99.84 0 No comment
    PIGQ 100.00 0 No comment
    PIGS 100.00 0 No comment
    PIGT 100.00 0 No comment
    PLCB1 99.97 0 No comment
    PLPBP 99.57 0 No comment
    PNKP 99.98 0 No comment
    PNPO 99.98 0 No comment
    POLG 99.86 0 No comment
    PPP2R5D 99.94 0 No comment
    PPP3CA 99.93 0 No comment
    PPT1 100.00 0 No comment
    PRICKLE1 100.00 0 No comment
    PRRT2 100.00 0 No comment
    PTEN 92.28 0 No comment
    PURA 85.06 0 No comment
    QARS1 100.00 0 No comment
    RELN 99.97 0 No comment
    RHOBTB2 99.98 0 No comment
    RNASEH2A 99.99 0 No comment
    RNASEH2B 93.70 0 No comment
    RNASEH2C 95.34 0 No comment
    ROGDI 94.47 0 No comment
    RORA 97.11 0 No comment
    RORB 100.00 0 No comment
    RTN4IP1 100.00 0 No comment
    SAMHD1 100.00 0 No comment
    SCARB2 100.00 0 No comment
    SCN1A 99.91 0 No comment
    SCN1B 95.75 0 No comment
    SCN2A 100.00 0 No comment
    SCN3A 100.00 0 No comment
    SCN8A 99.95 0 No comment
    SERPINI1 99.98 0 No comment
    SETD2 99.95 0 No comment
    SIK1 99.98 0 No comment
    SLC12A5 99.55 0 No comment
    SLC13A5 99.89 0 No comment
    SLC19A3 100.00 0 No comment
    SLC1A2 99.99 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A22 99.88 0 No comment
    SLC2A1 99.27 0 No comment
    SLC35A2 99.82 0 No comment
    SLC35A3 99.97 0 No comment
    SLC6A1 99.93 0 No comment
    SLC6A8 91.78 0 No comment
    SLC9A6 94.23 0 No comment
    SMARCA2 97.46 0 No comment
    SMC1A 99.50 0 No comment
    SNAP25 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPTAN1 99.98 0 No comment
    ST3GAL3 100.00 0 No comment
    ST3GAL5 93.40 0 No comment
    STAG1 99.98 0 No comment
    STX1B 99.89 0 No comment
    STXBP1 100.00 0 No comment
    SYN1 75.34 0 No comment
    SYNGAP1 98.18 0 No comment
    SYNJ1 99.27 0 No comment
    SZT2 99.94 0 No comment
    TANC2 100.00 0 No comment
    TBC1D24 99.73 0 No comment
    TBCD 96.99 0 No comment
    TCF4 99.90 0 No comment
    TK2 85.99 0 No comment
    ACD 99.86 0 No comment
    TRAK1 99.99 0 No comment
    TRAPPC6B 100.00 0 No comment
    TREX1 100.00 0 No comment
    TRIT1 99.98 0 No comment
    TSC1 99.97 0 No comment
    TSC2 99.99 0 No comment
    TUBA1A 100.00 0 No comment
    TUBB2B 100.00 0 No comment
    UBA5 99.97 0 No comment
    UBE3A 99.97 0 No comment
    UFC1 99.91 0 No comment
    UGDH 99.96 0 No comment
    VARS1 100.00 0 No comment
    VARS2 100.00 0 No comment
    WDR26 99.78 0 No comment
    WDR45 99.67 0 No comment
    WWOX 100.00 0 No comment
    YWHAG 100.00 0 No comment
    ZBTB18 99.11 0 No comment
    ZEB2 99.91 0 No comment
    ZNHIT3 74.73 0 No comment