C0003 |
CNV |
GJA5 |
chr1: g.145658465_145658583dup |
isolated CHD: PA |
C0166 |
CNV |
DGKD, USP40 |
chr2: g.234255714_234415570del |
isolated CHD: PA |
C0167 |
CNV |
NR5A1, NR6A1 |
chr9: g.127104486_127759670dup |
isolated CHD: PA |
C0168 |
CNV |
CUBN |
chr10: g.16883466_17058324dup |
isolated CHD: PA |
C0169 |
CNV |
FGF14 |
chr13: g.102902377_103345247dup |
isolated CHD: PA |
C0170 |
CNV |
IGF1R, SYNM |
chr15: g.99004156_99782996dup |
isolated CHD: PA |
C0171 |
CNV |
MYH11, ABCC6, NDE1 |
chr16: g.15395312_16270740dup |
isolated CHD: PA |
C0172 |
CNV |
ABCA3, TSC2, PKD1, TBC1D24 |
chr16: g.1866643_2604949del |
isolated CHD: PA |
C0173 |
CNV |
CAMTA2, CHRNE, GP1BA, ENO3 |
chr17: g.4041358_5091377del |
isolated CHD: PA |
C0174 |
CNV |
TBX1 |
chr22: g.17255869_18692668del |
isolated CHD: PA |
C0175 |
CNV |
TBX1 |
chr22: g.17089407_19795050del |
isolated CHD: PA |
C0176 |
CNV |
TBX1 |
chr22: g.17101361_19801287del |
isolated CHD: PA |
C0177 |
CNV |
NA |
chr3: g.204652_4944387del |
isolated CHD: PA |
C0178 |
CNV |
TBX1 |
chr22: g.17255869_19795050del |
isolated CHD: PA |
C0179 |
CNV |
NA |
chr10: g.59083_5276600dup |
isolated CHD: PA |
C0180 |
CNV |
NA |
chr3: g.38411_4944387del |
isolated CHD: PA |
C0181 |
CNV |
NA |
chr10: g.103934_5297659dup |
isolated CHD: PA |
C0182 |
CNV |
SMN1, SMN2 |
chr5: g.68930217_70573127del |
isolated CHD: PA |
C0183 |
CNV |
DHFR, DMGDH, PDE8B, AP3B, ARSB |
chr5: g.75132315_79958945dup |
isolated CHD: PA |
C0184 |
CNV |
NFKBIL1, LTA, TNF, NCR3 |
chr6: g.31467185_31569111del |
isolated CHD: PA |
C0185 |
CNV |
NFKBIL1, LTA, TNF, NCR3 |
chr6: g.31467627_3157090del |
isolated CHD: PA |