ID Type Gene/Location Detail CHD Type
V0471 Small Variation GDF1 NC_000019.10:g.18878511T>C isolated CHD: EA
V0868 Small Variation Increased homozygosity NA isolated CHD: EA
V1756 Small Variation MYH7 NM_000257.4:c.722C>T isolated CHD: EA
V2458 Small Variation KLHL26 NM_001345981.1:c.709C>T isolated CHD: EA
C0259 CNV NA NA isolated CHD: EA
C0449 CNV CTD-(2272D18.1), RP11-(653B10.1), RP11-(731N10.1) isolated CHD: EA
C0450 CNV MYOZ2, RP11-455G16.1, USP53 isolated CHD: EA
C0451 CNV CYP4V2, F11, FAM149A, KLKB1 isolated CHD: EA
C0452 CNV CTC-(551A13.2), WDR36 isolated CHD: EA
C0453 CNV SLC35F1 isolated CHD: EA
C0454 CNV RP11(307P5.1), RP11(307P5.2) isolated CHD: EA
C0455 CNV CTD-(2272D18.1), RP11-(731N10.1) isolated CHD: EA
C0456 CNV SPIDR isolated CHD: EA
C0457 CNV CALHM1, CALHM2, PDCD11, RP11-(225H22.4), RP11(225H22.7) isolated CHD: EA
C0458 CNV SORCS1 isolated CHD: EA
C0459 CNV AP000439.1, AP000439.2, AP000439.3, AP000439.5 isolated CHD: EA
C0460 CNV C2CD5, RP11(359J14.2) isolated CHD: EA
C0461 CNV DIP2B isolated CHD: EA
C0462 CNV NA isolated CHD: EA
C0463 CNV KIF17 isolated CHD: EA
C0464 CNV LMO7, RP11(29G8.3) isolated CHD: EA
C0465 CNV C16orf72, RP11(473I1.10), RP11(473I1.5), RP11(473I1.6), RP11 (473I1.9); RP11(77H9.8); USP7 isolated CHD: EA
C0466 CNV RP11(309M23.1) isolated CHD: EA
C0467 CNV DUSP21, FUNDC1, KDM6A, RN7SL291P, RNU6-523P isolated CHD: EA
C0468 CNV NA 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