|
V0609 |
Small Variation |
ISL1 |
NM_002202.3:c.*539G>T |
isolated CHD: ASD/VSD |
|
V0610 |
Small Variation |
ISL1 |
NM_002202.3:c.*651A>T |
isolated CHD: ASD/VSD |
|
V1097 |
Small Variation |
POU5F1 |
NC_000006.12:g.31164308T>C |
isolated CHD: ASD/VSD |
|
V1098 |
Small Variation |
POU5F1 |
NC_000006.12:N/A |
isolated CHD: ASD/VSD |
|
C0534 |
CNV |
TSNAX-DISC1, DISC1 |
GRCh37 chr1: g.231828116_231928554del |
isolated CHD: ASD/VSD |
|
C0537 |
CNV |
CNTN4, CNTN4-AS2 |
GRCh37 chr3: g.1614980_2383336dup |
isolated CHD: ASD/VSD |
|
C0539 |
CNV |
NA |
GRCh37 chr7: g.72718277_74142190del |
isolated CHD: ASD/VSD |
|
C0541 |
CNV |
FNTA, SGK196, HGSNAT, POTEA |
GRCh37 chr8: g.42935729_46923289dup |
isolated CHD: ASD/VSD |
|
C0543 |
CNV |
C9orf66, DOCK8 |
GRCh37 chr9: g.203861_354913dup |
isolated CHD: ASD/VSD |
|
C0544 |
CNV |
LOC643650, LOC728643, ANXA8, ANXA8L1, FAM25B, FAM25G, FAM25C, AGAP9, BMS1P6, BMS1P2, FAM35B2, ANTXRL, ANXA8L2, FAM21B, CTSL1P2 |
GRCh37 chr10: g.47090537_48179757dup |
isolated CHD: ASD/VSD |
|
C0545 |
CNV |
CTNNA3 |
GRCh37 chr10: g.68186265_68317814del |
isolated CHD: ASD/VSD |
|
C0548 |
CNV |
PUS1, EP400, SNORA49, EP400NL, DDX51, NOC4L |
GRCh37 chr12: g.132422717_132666263del |
isolated CHD: ASD/VSD |
|
C0549 |
CNV |
NA |
NA |
isolated CHD: ASD/VSD |
|
C0551 |
CNV |
CHRNA7 |
GRCh37 chr15: g.31975318_32400912dup |
isolated CHD: ASD/VSD |
|
C0554 |
CNV |
EIF3CL, EIF3C, CLN3, APOBR, IL27, NUPR1, CCDC101, SULT1A2, SULT1A1, ATXN2L, TUFM, MIR4721, SH2B1, ATP2A1, LOC100289092, RABEP2, CD19, NFATC2IP, MIR4517, SPNS1, LAT, RRN3P2, SNX29P2 |
GRCh37 chr16: g.28371467_29351826del |
isolated CHD: ASD/VSD |
|
C0559 |
CNV |
KANSL1, KANSL1-AS1, LRRC37A, ARL17A, ARL17B, NSFP1, LRRC37A2, NSF |
GRCh37 chr17: g.44187491_44784639dup |
isolated CHD: ASD/VSD |
|
C0564 |
CNV |
CDH19 |
GRCh37 chr18: g.64264933_64504466del |
isolated CHD: ASD/VSD |
|
C0567 |
CNV |
USP18, GGT3P, DGCR6, PRODH, DGCR5, DGCR9, DGCR10, DGCR2, DGCR11, DGCR14, TSSK2, GSC2, SLC25A1, CLTCL1, HIRA, MRPL40, C22orf39, UFD1L, CDC45, CLDN5, LOC150185, SEPT5, SEPT5-GP1BB, GP1BB, TBX1, GNB1L, C22orf29, TXNRD2, COMT, MIR4761, ARVCF, C22orf25, MIR185, DGCR8, MIR3618, MIR1306, TRMT2A, RANBP1, ZDHHC8, LOC388849, LOC284865, LOC150197, RTN4R, MIR1286, DGCR6L, LOC729444, TMEM191B, PI4KAP1, RIMBP3, ZNF74, SCARF2, KLHL22, MED15, POM121L4P, TMEM191A, PI4KA, SERPIND1, SNAP29, CRKL, AIFM3, LZTR1, THAP7, THAP7-AS1, TUBA3FP, P2RX6, SLC7A4, P2RX6P, LOC400891, BCRP2, POM121L8P, RIMBP3C, RIMBP3B, HIC2 |
GRCh37 chr22: g.18644790_21798907del |
isolated CHD: ASD/VSD |
|
C0568 |
CNV |
USP18, GGT3P, DGCR6, PRODH, DGCR5, DGCR9, DGCR10, DGCR2 |
GRCh37 chr22: g.18649166_19024659dup |
isolated CHD: ASD/VSD |
|
C0569 |
CNV |
IGLL3P, LRP5L, CRYBB2P1, ADRBK2 |
GRCh37 chr22: g.25656237_26007508dup |
isolated CHD: ASD/VSD |
|
C0572 |
CNV |
IGLL3P, LRP5L, CRYBB2P1 |
GRCh37 chr22: g.25656218_25925187del |
isolated CHD: ASD/VSD |