Table 1

The number of subjects and mutations identified in each family from which a person returned a questionnaire. Where a family has been published previously, the same family identification number is given as has been used in the previous article, and the source is given: a, McAllister et al,14 b, McAllister et al,15 c, Gallione et al,18 d, Johnson et al,16 e, Berg et al,17 f, previously unpublished data

Family 
 IDGeneMutation identifiedMutation effectNo of subjects
1cEndoglin1311G>CSplice disruption11
8cEndoglin155G>TG52V1
32bEndoglin1414C>TQ472X3
49aEndoglin831C>GY277X2
53bEndoglin1655delCFrameshift1
56bEndoglin1050T>AC350X4
58cEndoglin1432delAGFrameshift5
63aEndoglin1553delGCFrameshift3
73cEndoglin157T>CC53R6
93cEndoglin1078delCAGAFrameshift6
139cEndoglin2T>GAbolish start1
142cEndoglin447G>CW149C1
AfEndoglin511C>TR171X1
BfEndoglin245delT>CFrameshift1
CfEndoglin90T>AC30X1
DfEndoglinIVS5+1,gtSplice disruption1
EfEndoglinIVS3+1,gtSplice disruption1
17e ALK1 865insTFrameshift1
20e ALK1 998G>TS333I1
33d ALK1 1127T>GM376R1
40d ALK1 1232G>AR411Q7
67d ALK1 694delTCCDel Ser 23215
92e ALK1 924C>AC308X3
100e ALK1 200G>AR67Q1
Fe ALK1 150G>TW50C2
Ge ALK1 1270C>AP424T3