|
V0868 |
Small Variation |
Increased homozygosity |
NA |
isolated CHD: EA |
|
V1756 |
Small Variation |
MYH7 |
NM_000257.4:c.722C>T |
isolated CHD: EA |
|
C0259 |
CNV |
NA |
NA |
isolated CHD: EA |
|
C0449 |
CNV |
CTD-(2272D18.1), RP11-(653B10.1), RP11-(731N10.1) |
chr8: g.83573868_83964230dup |
isolated CHD: EA |
|
C0450 |
CNV |
MYOZ2, RP11-455G16.1, USP53 |
chr4: g.120028773_120162705dup |
isolated CHD: EA |
|
C0451 |
CNV |
CYP4V2, F11, FAM149A, KLKB1 |
chr4: g.187078181_187190810dup |
isolated CHD: EA |
|
C0452 |
CNV |
CTC-(551A13.2), WDR36 |
chr5: g.110417428_110444810dup |
isolated CHD: EA |
|
C0453 |
CNV |
SLC35F1 |
chr6: g.118039508_118237605dup |
isolated CHD: EA |
|
C0454 |
CNV |
RP11(307P5.1), RP11(307P5.2) |
chr6: g.148005232_148138720dup |
isolated CHD: EA |
|
C0455 |
CNV |
CTD-(2272D18.1), RP11-(731N10.1) |
chr8: g.83848688_83981829dup |
isolated CHD: EA |
|
C0456 |
CNV |
SPIDR |
chr8: g.48170319_48204412dup |
isolated CHD: EA |
|
C0457 |
CNV |
CALHM1, CALHM2, PDCD11, RP11-(225H22.4), RP11(225H22.7) |
chr10: g.105157553_105215741dup |
isolated CHD: EA |
|
C0458 |
CNV |
SORCS1 |
chr10: g.108765792_108793878dup |
isolated CHD: EA |
|
C0459 |
CNV |
AP000439.1, AP000439.2, AP000439.3, AP000439.5 |
chr11: g.69239611_69434379dup |
isolated CHD: EA |
|
C0460 |
CNV |
C2CD5, RP11(359J14.2) |
chr12: g.22608226_22649460dup |
isolated CHD: EA |
|
C0461 |
CNV |
DIP2B |
chr12: g.50893815_50995674dup |
isolated CHD: EA |
|
C0462 |
CNV |
NA |
chr13: g.67843475_67900578dup |
isolated CHD: EA |
|
C0463 |
CNV |
KIF17 |
chr1: g.21002613_21037639dup |
isolated CHD: EA |
|
C0464 |
CNV |
LMO7, RP11(29G8.3) |
chr13: g.76247612_76281850dup |
isolated CHD: EA |
|
C0465 |
CNV |
C16orf72, RP11(473I1.10), RP11(473I1.5), RP11(473I1.6), RP11
(473I1.9); RP11(77H9.8); USP7 |
chr16: g.9041214_9295696dup |
isolated CHD: EA |
|
C0466 |
CNV |
RP11(309M23.1) |
chrX: g.902677_1262175dup |
isolated CHD: EA |
|
C0467 |
CNV |
DUSP21, FUNDC1, KDM6A, RN7SL291P, RNU6-523P |
chrX: g.44381642_44872791dup |
isolated CHD: EA |
|
C0468 |
CNV |
NA |
chrX: g.61726006_62027422del |
isolated CHD: EA |
|
C0469 |
CNV |
ARTN, IPO13, RP11-(G19617O11.3), ST3GAL3 |
NA |
isolated CHD: EA |
|
C0470 |
CNV |
CCDC17, GPBP1L1, NASP |
NA |
isolated CHD: EA |
|
C0471 |
CNV |
LCLAT1 |
NA |
isolated CHD: EA |
|
C0472 |
CNV |
BMPR2, CARF, FAM117B, ICA1L, NOP58, RN7SL40P, RN7SL753P
RP11-686O6.1;RP11-686O6.2;WDR12 |
NA |
isolated CHD: EA |