Table 5.
GENE | CHR | POS | REF | ALT | CONSEQUENCE | SAMPLE ID |
RP2 | X | 46696585 | C | T | missense variant | Y558 |
RP2 | X | 46696543 | G | C | missense variant | Y591 |
LINC00632* | X | 139795826 | G | A | missense variant | Y645 |
TSPAN6 | X | 99890198 | C | T | missense variant | BrA206 |
PBDC1* | X | 75397790 | A | C | missense variant | Y482 |
NR0B1 | X | 30326933 | C | A | missense variant | Y482 |
TIMP1 | X | 47444635 | C | G | missense variant | BIB82 |
TFE3 | X | 48888013 | C | T | missense variant | BrA206 |
TAB3* | X | 30864180 | A | G | missense variant | Y591 |
CXorf23* | X | 19948685 | G | A | missense variant | Y558 |
MAMLD1 | X | 149681090 | A | C | missense variant | Y591 |
STARD8 | X | 67937097 | A | G | missense variant | Y919 |
RBM10 | X | 47006890 | G | A | missense variant | Y919 |
MAP3K15* | X | 19398252 | C | T | missense variant | Y645 |
ALG13 | X | 111003183 | G | A | missense variant | Y787 |
ATP11C* | X | 138884497 | G | A | missense variant & splice region variant | Y166 |
TRO | X | 54956296 | G | A | missense variant | Y482 |
AFF2 | X | 148037417 | G | T | missense variant | BIB82 |
DMD | X | 31366742 | C | T | missense variant | Y482 |
OPHN1 | X | 67273643 | T | C | missense variant | BrA206 |
CHR and POS show the GRCh37 coordinate of the variant; the REF/ALT columns shows the reference and alternate alleles; the CONSEQUENCE is the type of the protein disruption; the SAMPLE ID column contains the sample name in which the given variants were found in heterozygote state.
*denotes gene without disease association in MalaCards and OMIM.