Patient 1 317136
|
Del
|
Chr11:84245639-84772741
|
0.52
|
Exons 7–8; HPin7
|
Male
|
0
|
Inherited from an unaffected mother
|
C, B
|
Patient 2 317185
|
Del
|
Chr11:84334015-84797219
|
0.46
|
Exon 7; HPin7
|
Male
|
0
|
Inherited from an unaffected mother
|
C, B
|
DECIPHER 248668
|
Del
|
Chr11:84548697-84628963
|
0.08
|
Intron 7
|
Male
|
32
|
Unknown
|
C
|
DECIPHER 256592
|
Del
|
Chr11:84456097-84607440
|
0.15
|
Intron 7
|
Male
|
1a
|
Unknown
|
C, B
|
DECIPHER 263216
|
Del
|
Chr11:84003279-84276072
|
0.27
|
Exons 8–9; HPin8
|
Male
|
0
|
Inherited from a parent with same phenotype
|
Unknown
|
DECIPHER 270892
|
Del
|
Chr11:84108622-84334253
|
0.23
|
Exon 8; HPin8
|
Male
|
0
|
Inherited from normal parent
|
C, B
|
DECIPHER 272251
|
Del
|
Chr11:83805117-84215024
|
0.41
|
Exons 9–13; HPin8
|
Female
|
3b
|
Inherited from an unaffected mother
|
C, B, P
|
DECIPHER 273969
|
Del
|
Chr11:83996254-84214903
|
0.22
|
Exon 9; HPin8
|
Male
|
0
|
Unknown
|
Unknown
|
DECIPHER 278011
|
Del
|
Chr11:84367238-84721340
|
0.35
|
Exon 7; HPin7
|
Male
|
1c
|
De novo constitutive
|
C
|
DECIPHER 281197
|
Del
|
Chr11:84085773-84477088
|
0.39
|
Exon 8; HPin7-8
|
Male
|
0
|
Inherited from an unaffected mother
|
C, B
|
DECIPHER 284804
|
Del
|
Chr11:84046644-84539636
|
0.49
|
Exon 8; HPin7-8
|
Male
|
0
|
De novo constitutive
|
C, B
|
DECIPHER 286641
|
Del
|
Chr11:84291759-84477088
|
0.19
|
Intron 7; HPin7
|
Male
|
1d
|
Inherited from an unaffected mother
|
Unknown
|
DECIPHER 288027
|
Del
|
Chr11:84046530-84454687
|
0.41
|
Exon 8; HPin7-8
|
Male
|
1e
|
Inherited from an unaffected mother
|
C, B
|
DECIPHER 288501
|
Del
|
Chr11:84334017-84595634
|
0.26
|
Intron 7; HPin7
|
Female
|
1f
|
Unknown
|
Other
|
DECIPHER 288842
|
Del
|
Chr11:84334017-84595634
|
0.26
|
Intron 7; HPin7
|
Unknown
|
1g
|
Unknown
|
Other
|
DECIPHER 289734
|
Del
|
Chr11:84595575-84907579
|
0.31
|
Exons 5–7
|
Unknown
|
2h
|
De novo constitutive
|
C, B
|
DECIPHER 292620
|
Del
|
Chr11:84046614-84214762
|
0.17
|
Intron 8; HPin8
|
Female
|
0
|
Unknown
|
C
|
DECIPHER 300042
|
Del
|
Chr11:84046614-84419502
|
0.37
|
Exon 8; HPin8
|
Unknown
|
0
|
Unknown
|
C
|
DECIPHER 300109
|
Del
|
Chr11:84419443-84581292
|
0.16
|
Intron 7; HPin7
|
Unknown
|
0
|
Inherited from a mother of unknown phenotype
|
C
|
DECIPHER 300111
|
Del
|
Chr11:84367238-84539665
|
0.17
|
Intron 7; HPin7
|
Unknown
|
0
|
Inherited from a mother of unknown phenotype
|
C
|
1339 [10]
|
Del
|
Chr11:83595987-84489649
|
0.89
|
Exons 8–18; HPin7-8
|
Unknown
|
1i
|
De novo constitutive
|
C, B, E
|
L4 [48]
|
Del
|
Chr11:84003321-84266329
|
0.26
|
Exons 8–9; HPin8
|
Unknown
|
Unknown
|
Unknown
|
P
|
L5 [46]
|
Del
|
Chr11:83945764-84214964
|
0.27
|
Exons 9–11; HPin8
|
Male
|
Unknown
|
Inherited from an unaffected mother
|
P
|
L6 [47]
|
Del
|
Chr11:83795102-84165325
|
0.37
|
Exons 9–13; HPin8
|
Unknown
|
Unknown
|
De novo constitutive
|
P
|
L7 [47]
|
Del
|
Chr11:84328458-84548416
|
0.22
|
Intron 7; HPin7
|
Unknown
|
Unknown
|
De novo constitutive
|
P
|
L8 [49]
|
Del
|
Chr11:84143697-84312722
|
0.17
|
Exon 8; HPin8
|
Unknown
|
1j
|
Unknown
|
P
|
L9 [49]
|
Del
|
Chr11:84111384-84354568
|
0.24
|
Exon 8; HPin8
|
Unknown
|
1k
|
Unknown
|
P
|
L11 [44]
|
Del
|
Chr11:83961633-84633847
|
0.67
|
Exons 8–11; HPin7-8
|
Female
|
Unknown
|
Inherited from an unaffected mother
|
P
|
L13 [44]
|
Del
|
Chr11:84375859-84521180
|
0.145
|
Intron 7; HPin7
|
Male
|
Unknown
|
Unknown
|
P
|