2 |
ASD |
del |
12p12.1-p12.2 |
1 |
20,994,908 |
21,415,634 |
421 |
SLCO1B3, SLCO1B7, SLCO1B1
|
+ |
+ |
Yes |
3 |
ASD |
dup |
15q22.2 |
3 |
62,209,640 |
62,543,660 |
334 |
VPS13C, C2CD4A, C2CD4B
|
- |
+ |
NP |
8 |
ToF, IAA |
del |
16p11.2 |
1 |
29,567,295 |
30,177,916 |
611 |
SLC7A5P1, SPN, QPRT, ZG16, KIF22, MAZ, PRRT2, MVP, CDIPT, SEZ6L2, ASPHD1, KCTD13, TMEM219, TAOK2, HIRIP3, INO80E, DOC2A, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3
|
+ |
+ |
Yes |
13 |
TA |
dup |
8p11.1-p11.21 |
3 |
42,935,729 |
43,776,564 |
841 |
FNTA, SGK196, HGSNAT, POTEA
|
+ |
+ |
Yes |
14 |
VSD, ASD, PA |
del |
10q25.1 |
1 |
110,420,129 |
111,116,531 |
696 |
RNU6-53, MAPKAPK5P1-001
|
- |
+ |
Yes |
19 |
VSD |
dup |
Yp11.2 |
2 |
9,664,007 |
9,997,425 |
333 |
TTTY23, TTTY23B
|
- |
+ |
NP |
20 |
ASD, PDA, PA |
dup |
2q13 |
3 |
110,504,318 |
111,365,996 |
862 |
RGPD5, RGPD6, LIMS3, LIMS3L, LIMS3-LOC440895, LOC440895, LOC100288570, LOC440894, MIR4267, MALL, MIR4436B2, MIR4436B1, NPHP1, LINC00116, LOC100507334, LOC151009
|
- |
+ |
Yes |
21 |
VSD |
dup |
7q21.13 |
3 |
88,819,024 |
89,678,695 |
860 |
ZNF804B
|
+ |
+ |
Yes |
24 |
VSD, TA, PA |
del |
16p11.1-p11.2 |
1 |
34,197,616 |
35,158,405 |
961 |
UBE2MP1, LOC283914, LOC146481, LOC100130700, RN5S411, FLJ26245
|
- |
- |
Yes |
26 |
BAV |
del |
17q12 |
1 |
34,477,385 |
36,283,612 |
1806 |
TBC1D3B, CCL3L3, CCL3L1, CCL4L2, CCL4L1, TBC1D3C, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, MIR2909, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B, LOC284100
|
- |
+ |
Yes |
29 |
PDA |
del |
5p15.1-p15.33 |
1 |
113,576 |
17,511,896 |
17,398 |
PLEKHG4B, LRRC14B, CCDC127, SDHA, PDCD6, AHRR, C5orf55, EXOC3, PP7080, SLC9A3, MIR4456, CEP72, TPPP, ZDHHC11, BRD9, TRIP13, LOC100506688, NKD2, SLC12A7, MIR4635, SLC6A19, SLC6A18, TERT, MIR4457, CLPTM1L, SLC6A3, LPCAT1, SDHAP3, LOC728613, MIR4277, MRPL36, NDUFS6, IRX4, IRX2, C5orf38, LOC285577, IRX1, LOC340094, ADAMTS16, KIAA0947, FLJ33360, MED10, UBE2QL1, LOC255167, NSUN2, SRD5A1, PAPD7, MIR4278, MIR4454, LOC442132, ADCY2, C5orf49, FASTKD3, MTRR, LOC729506, LOC100505738, MIR4458, SEMA5A, MIR4636, LOC100505806, SNORD123, TAS2R1, LOC285692, FAM173B, CCT5, CMBL, MARCH6, ROPN1L, ANKRD33B, DAP, CTNND2, TAG, DNAH5, TRIO, FAM105A, FAM105B, ANKH, LOC100130744, MIR4637, FBXL7, MARCH11, ZNF622, FAM134B, MYO10, LOC285696, BASP1, LOC401177
|
- |
+ |
NP |
30 |
ASD |
dup |
5q33.2 |
3 |
154,330,014 |
154,664,212 |
334 |
MRPL22, KIF4B
|
- |
- |
NP |
35 |
ToF, PA, PLSVC |
dup |
15q21.1 |
3 |
48,023,616 |
49,017,024 |
993 |
SEMA6D, SLC24A5, MYEF2, CTXN2, SLC12A1, DUT, FBN1
|
- |
+ |
Yes |
40 |
ToF, PA, ASD, PLSVC |
dup |
3q26.2 |
3 |
168,485,398 |
170,468,489 |
1983 |
EGFEM1P, MECOM, TERC, ACTRT3, MYNN, LRRC34, LRRIQ4, LRRC31, SAMD7, LOC100128164, SEC62, GPR160, PHC3, PRKCI, SKIL, CLDN11, SLC7A14
|
- |
+ |
Yes |
52 |
ToF, PA, ASD |
dup |
2p22.3 |
3 |
32,628,617 |
33,334,307 |
706 |
BIRC6, MIR558, TTC27, MIR4765, LINC00486, LOC100271832, LTBP1
|
+ |
+ |
Yes |
58 |
ToF, PA |
dup |
6q14.3 |
3 |
87,387,316 |
87,921,049 |
534 |
HTR1E, CGA, ZNF292
|
- |
+ |
Yes |
59 |
ToF, PA, MVP |
dup |
16q23.1 |
3 |
77,923,068 |
78,596,237 |
673 |
VAT1L, CLEC3A, WWOX
|
- |
+ |
Yes |
63 |
ToF, PA |
dup |
3p26.3 |
3 |
1,750,535 |
2,205,306 |
455 |
CNTN4, CNTN4-AS2
|
+ |
+ |
Yes |
67 |
ToF |
dup |
3p26.3 |
3 |
1,775,844 |
2,158,248 |
382 |
CNTN4, CNTN4-AS2
|
+ |
+ |
No |
71 |
ToF |
del |
10q22.3-q23.2 |
1 |
81,446,577 |
89,253,430 |
7807 |
LOC650623, LOC642361, LOC100288974, MBL1P, SFTPD, LOC219347, C10orf57, PLAC9, ANXA11, LOC439990, MAT1A, DYDC1, DYDC2, FAM213A, TSPAN14, SH2D4B, NRG3, GHITM, C10orf99, CDHR1, LRIT2, LRIT1, RGR, LOC170425, FAM190B, GRID1-AS1, GRID1, MIR346, WAPAL, OPN4, LDB3, BMPR1A, MMRN2, SNCG, C10orf116, AGAP11, FAM25A, GLUD1, FAM35A, FAM22A, LOC728190, LOC439994, FAM22D, LOC728218
|
- |
+ |
Yes |
72 |
VSD, PA, ASD, TGA |
dup |
2p24.3-p25.3 |
3 |
12,770 |
14,851,012 |
14,838 |
FAM110C, SH3YL1, ACP1, FAM150B, TMEM18, LOC339822, SNTG2, TPO, PXDN, MYT1L, LOC730811, TSSC1, TRAPPC12, ADI1, RNASEH1, LOC100506054, RPS7, COLEC11, ALLC, LOC100505964, LOC727982, SOX11, LOC150622, LOC400940, LINC00487, CMPK2, RSAD2, LOC386597, RNF144A, LOC100506274, LOC339788, LINC00299, ID2, KIDINS220, MBOAT2, ASAP2, ITGB1BP1, CPSF3, IAH1, ADAM17, YWHAQ, TAF1B, GRHL1, KLF11, CYS1, RRM2, C2orf48, MIR4261, HPCAL1, ODC1, SNORA80B, NOL10, ATP6V1C2, PDIA6, KCNF1, FLJ33534, C2orf50, PQLC3, ROCK2, LINC00570, E2F6, GREB1, MIR4429, NTSR2, LPIN1, MIR4262, TRIB2, MIR3125, LOC100506474, FAM84A
|
- |
+ |
Yes |
|
|
del |
4q35.1-q35.2 |
1 |
186,464,011 |
190,957,473 |
4493 |
SORBS2, TLR3, FAM149A, FLJ38576, CYP4V2, KLKB1, F11, LOC285441, MTNR1A, FAT1, LOC339975, ZFP42, TRIML2, TRIML1, LOC401164, HSP90AA4P, FRG1, LOC100288255, FRG2
|
- |
+ |
Yes |
|
|
del |
16p12.2 |
1 |
21,576,802 |
21,951,415 |
375 |
METTL9, IGSF6, OTOA, RRN3P1
|
+ |
+ |
Yes |
77 |
VSD, PA, ASD, PLSVC |
del |
8p23.1 |
1 |
8,093,065 |
11,935,465 |
3842 |
FLJ10661, SGK223, CLDN23, MFHAS1, ERI1, MIR4660, PPP1R3B, LOC157273, TNKS, MIR597, LINC00599, MIR124-1, MSRA, PRSS55, RP1L1, C8orf74, SOX7, PINX1, MIR1322, XKR6, MIR598, MTMR9, SLC35G5, TDH, C8orf12, FAM167A, BLK, LINC00208, GATA4, NEIL2, FDFT1, CTSB, DEFB136, DEFB135, DEFB134, LOC100133267, DEFB130
|
- |
+ |
PV |
78 |
BAV, EA, SV |
del |
22q13.33 |
1 |
50,100,435 |
51,197,838 |
1097 |
BRD1, LOC90834, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, SYCE3, CPT1B, CHKB-CPT1B, CHKB, LOC100144603, MAPK8IP2, ARSA, SHANK3, ACR, RPL23AP82
|
- |
+
|
PV |