test
Full name: |
test
|
Laboratory: | |
Created: |
06 Jan 2022 - 10:31
|
Changed: |
29 Sep 2022 - 08:20
|
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 |
ACD | 99.86 | 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 |
AFG2A | 100.00 | 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 |
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 |
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 |