ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0492 | Small Variation | ZIC3 | NM_003413.4:c.98C>T | isolated CHD: D-TGA |
V0493 | Small Variation | ZIC3 | NM_003413.4:c.162_163insCGC | isolated CHD: D-TGA |
V2152 | Small Variation | DNAH1 | NM_015512.4:hetezygous mutation | isolated CHD: D-TGA |
V2153 | Small Variation | negative | NA | isolated CHD: D-TGA |
V2215 | Small Variation | NKX2-5 | NM_004387.4:c.606G>C | isolated CHD: D-TGA |
V2453 | Small Variation | FOXH1 | NM_003923.3:c.209T>C | isolated CHD: D-TGA |
V2456 | Small Variation | FOXH1 | NM_003923.3:c.277A>G | isolated CHD: D-TGA |
C0220 | CNV | MACROD2, MACROD2-IT1 | isolated CHD: D-TGA | |
C0343 | CNV | RERE | isolated CHD: D-TGA | |
C0346 | CNV | IFT57 | isolated CHD: D-TGA | |
C0347 | CNV | LPP | isolated CHD: D-TGA | |
C0348 | CNV | LPP | isolated CHD: D-TGA | |
C0349 | CNV | RB1CC1 | isolated CHD: D-TGA | |
C0352 | CNV | NHS | isolated CHD: D-TGA | |
C0353 | CNV | ACKR3 | isolated CHD: D-TGA | |
C0354 | CNV | ITGB8 | isolated CHD: D-TGA | |
C0355 | CNV | NF1 | isolated CHD: D-TGA | |
C0356 | CNV | SOX18 | isolated CHD: D-TGA |