Table 1 Sanger sequencing genotype results for the ENSOARG00000020239:g.220472248delC variant identified within the OBSL1 gene

Control_1

Unaffected

CC

C-

CC/CC

Control_2

Unaffected

CC

C-

CC/CC

Control_3

Unaffected

CC

C-

CC/CC

Carrier_1

Obligate carrier

CC

C-

CC/C-

Carrier_2

Obligate carrier

CC

C-

CC/C-

Carrier_3

Obligate carrier

CC

C-

CC/C-

Carrier_4

Obligate carrier

CC

C-

CC/C-

Carrier_5

Obligate carrier

CC

C-

CC/C-

Carrier_6

Obligate carrier

CC

C-

CC/C-

BCRHS3

Affected

CC

C-

C-/C-

BCRHS11

Affected

CC

C-

C-/C-

Affected_3

Affected

CC

C-

C-/C-

Affected_4

Affected

CC

C-

C-/C-

Affected_5

Affected

CC

C-

C-/C-

Affected_6

Affected

CC

C-

C-/C-

Affected_7

Affected

CC

C-

C-/C-