Patient | Age | Total defects* | Detected mutations | Â | Â |
---|---|---|---|---|---|
 |  |  | Coding (ns)*** | 3'-UTR | Total |
VSDs | Â | Â | Â | Â | Â |
C06VSD** | 1h | 3 | F211L, Y244C, R260Q, C292R | Â | 4 |
C10VSD | stillborn | 6 | C292R | Â | 1 |
C19VSD | 3 mo | 4 | C292R | Â | 1 |
C58VSD | 18 d | 5 | C292R | c.+77C>T | 2 |
D01VSD | aborted | 3 | C292R | Â | 1 |
D03VSD | 2 mo | 4 | C292R | Â | 1 |
E03VSD** | 6 mo | 2 | Â | c.+77C>T | 1 |
E04VSD** | 5 wk | 2 | C292R | Â | 1 |
E08VSD | 53 yr | 1 | C292R | Â | 1 |
E10VSD | 6 mo | 4 | G214S | Â | 1 |
E11VSD | newborn | 1 | Â | c.+10T>C | 1 |
E13VSD | 16 yr | 1 | N239S, C292R | Â | 2 |
E15VSD | 8 mo | 2 | N239D | Â | 1 |
E16VSD | 3 mo | 3 | M361V | Â | 1 |
E20VSD | 2 d | 3 | Â | Â | 0 |
E22VSD | 4 mo | 3 | F208L, C292R | Â | 2 |
E23VSD** | 22 d | 3 | L261P, C292R | Â | 2 |
E26VSD | 6 mo | 3 | C292R, S377N | c.+479A>G | 3 |
E27VSD | 5 mo | 2 | M223T, R229S, C292R | c.+462T>C | 4 |
E28VSD | 5 mo | 2 | Â | c.+44T>A | 1 |
E29VSD | 8 wk | 3 | C292R | Â | 1 |
E31VSD | 5 mo | 2 | Â | Â | 0 |
E33VSD | 14 yr | 1 | A442T | Â | 1 |
E34VSD | 3 mo | 2 | Â | Â | 0 |
E35VSD | 4.5 mo | 2 | C292R | Â | 1 |
E39VSD | 9 mo | 3 | C292R | c.+218C>T, c.+259A>G | 3 |
E40VSD | 15 mo | 1 | C292R | Â | 1 |
E41VSD | 23 yr | 2 | C292R | c.+280T>C | 2 |
E49VSD | newborn | 3 | C292R | c.+442A>G | 2 |
ASDs | Â | Â | Â | Â | Â |
C09ASD | 26 yr | 2 | Â | Â | 0 |
C39ASD | 25 yr | 4 | C292R | Â | 1 |
C45ASD | 6 d | 7 | C292R, L432S | c.+280T>C, c.+462T>C | 4 |
C46ASD | 34 yr | 3 | C292R | c.+10T>C, c.+259A>G, c.+462T>C | 4 |
C64ASD | 11 mo | 4 | C292R | Â | 1 |
C75ASD | 2 mo | 6 | C292R | Â | 1 |
D30ASD | 11 yr | 3 | L430V | Â | 1 |
D33ASD | 8 yr | 2 | N248S, L261P | c.+462T>C, c.+479A>G | 4 |
F17ASD | 4 1/2 h | 1 | Â | c.+280T>C | 1 |
F19ASD | 8 yr | 4 | Â | c.+462T>C | 1 |
F20ASD | 10 yr | 1 | Â | Â | 0 |
F24ASD | 6 yr | 3 | Â | c.+280T>C | 1 |
27ASD | 7 yr | 2 | C292R | c.+442A>G | 2 |
F29ASD | 14 yr | 8 | I255T, A294V | c.+10T>C | 3 |
F30ASD | 1 d | 2 | Â | Â | 0 |
F32ASD | 38 yr | 1 | R229S | Â | 1 |
AVSDs | Â | Â | Â | Â | Â |
C43AVSD | 10 mo | 7 | H302R | c.+10T>C | 2 |
C70/2AVSD** | 8 mo | 6 | G234S, R252P, C292R | Â | 3 |
C71AVSD** | 4 d | 5 | Â | c.+10T>C, c.+442A>G | 2 |
E05AVSD | 16 wk | 6 | Â | c.+10T>C | 1 |
E36AVSD** | 3.5 mo | 4 | Â | Â | 0 |
E43AVSD | 4.5 mo | 4 | R283H | Â | 1 |
F00AVSD** | 6 wk | 5 | Â | c.+44T>A, c.+218C>T | 2 |
F02AVSD | 10 mo | 7 | N248S | c.+77C>T | 2 |
F03AVSD** | 1 mo | 4 | Â | c.+44T>A | 1 |
F04AVSD** | 11 wk | 5 | C292R | c.+218C>T, c.+259A>G | 3 |
F05AVSD** | 10 wk | 4 | F211L, R229S, Y244C, N285K | Â | 4 |
F08AVSD** | 5 mo | 5 | P226fs | Â | 1 |
F11AVSD** | 7 mo | 6 | C292R | c.+77C>T | 2 |
F12AVSD | 6 mo | 5 | R266X | Â | 1 |
F13AVSD** | 25 mo | 5 | C292R | Â | 1 |
F14AVSD** | 1 mo | 5 | T277I, C292R | Â | 2 |
F14aAVSD** | 5 wk | 5 | Â | c.+462T>C | 1 |
F15AVSD | 5 d | 7 | Â | c.+218C>T, c.+259A>G | 2 |
F18AVSD** | 7 mo | 5 | Â | Â | 0 |
F28AVSD | 8 yr | 3 | N273S, L430V | Â | 2 |
F31AVSD** | 8 d | 6 | Â | c.+479A>G | 1 |
F38AVSD | 3 mo | 4 | C292R | c.+10T>C, c.+77C>T, c.+280T>C | 4 |
F40AVSD | 10 mo | 3 | Â | c.+44T>A | 1 |