ID | Type | Gene/Location | Detail | CHD Type |
---|---|---|---|---|
V0242 | Small Variation | NFATc1 | NM_006162.5:c.1920+56_1920+99dup | isolated CHD: Pm VSD |
V0741 | Small Variation | NOS3 | NM_000603.5:c.3106+11G>T | isolated CHD: Pm VSD |
V0910 | Small Variation | TBX5 | NM_000192.3:c.(497A>G) | isolated CHD: Pm VSD |
V1429 | Small Variation | KCNH2 | NM_000238.4:c.(2536C>T) | isolated CHD: Pm VSD |
V1561 | Small Variation | NFATc1 | NM_006162.5:c.1920+56_1920+99dup | isolated CHD: Pm VSD |
V2155 | Small Variation | HOXB1 | NM_002144.4:c.74_82dup | isolated CHD: Pm VSD |
V2157 | Small Variation | HOXB1 | NM_002144.4:c.154C>T | isolated CHD: Pm VSD |
V2159 | Small Variation | HOXB1 | NM_002144.4:c.237C>T | isolated CHD: Pm VSD |
V2161 | Small Variation | HOXB1 | NM_002144.4:c.246G>A | isolated CHD: Pm VSD |
V2162 | Small Variation | HOXB1 | NM_002144.4:c.246G>A | isolated CHD: Pm VSD |
V2164 | Small Variation | HOXB1 | NM_002144.4:c.309A>T | isolated CHD: Pm VSD |
V2165 | Small Variation | HOXB1 | NM_002144.4:c.309A>T | isolated CHD: Pm VSD |
V2167 | Small Variation | HOXB1 | NM_002144.4:c.450G>A | isolated CHD: Pm VSD |
V2168 | Small Variation | HOXB1 | NM_002144.4:c.450G>A | isolated CHD: Pm VSD |
V2237 | Small Variation | HOXB1 | NM_002144.4:c.74_82dup | isolated CHD: Pm VSD |
V2239 | Small Variation | HOXB1 | NM_002144.4:c.154C>T | isolated CHD: Pm VSD |
V2241 | Small Variation | HOXB1 | NM_002144.4:c.237C>T | isolated CHD: Pm VSD |
V2243 | Small Variation | HOXB1 | NM_002144.4:c.246G>A | isolated CHD: Pm VSD |
V2245 | Small Variation | HOXB1 | NM_002144.4:c.309A>T | isolated CHD: Pm VSD |
V2247 | Small Variation | HOXB1 | NM_002144.4:c.450G>A | isolated CHD: Pm VSD |