Family ID | Gene | Mutation identified | Mutation effect | No of subjects |
---|---|---|---|---|
1c | Endoglin | 1311G>C | Splice disruption | 11 |
8c | Endoglin | 155G>T | G52V | 1 |
32b | Endoglin | 1414C>T | Q472X | 3 |
49a | Endoglin | 831C>G | Y277X | 2 |
53b | Endoglin | 1655delC | Frameshift | 1 |
56b | Endoglin | 1050T>A | C350X | 4 |
58c | Endoglin | 1432delAG | Frameshift | 5 |
63a | Endoglin | 1553delGC | Frameshift | 3 |
73c | Endoglin | 157T>C | C53R | 6 |
93c | Endoglin | 1078delCAGA | Frameshift | 6 |
139c | Endoglin | 2T>G | Abolish start | 1 |
142c | Endoglin | 447G>C | W149C | 1 |
Af | Endoglin | 511C>T | R171X | 1 |
Bf | Endoglin | 245delT>C | Frameshift | 1 |
Cf | Endoglin | 90T>A | C30X | 1 |
Df | Endoglin | IVS5+1,gt | Splice disruption | 1 |
Ef | Endoglin | IVS3+1,gt | Splice disruption | 1 |
17e | ALK1 | 865insT | Frameshift | 1 |
20e | ALK1 | 998G>T | S333I | 1 |
33d | ALK1 | 1127T>G | M376R | 1 |
40d | ALK1 | 1232G>A | R411Q | 7 |
67d | ALK1 | 694delTCC | Del Ser 232 | 15 |
92e | ALK1 | 924C>A | C308X | 3 |
100e | ALK1 | 200G>A | R67Q | 1 |
Fe | ALK1 | 150G>T | W50C | 2 |
Ge | ALK1 | 1270C>A | P424T | 3 |