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. Author manuscript; available in PMC: 2022 Apr 1.
Published in final edited form as: Am J Ophthalmol. 2020 Dec 11;224:172–177. doi: 10.1016/j.ajo.2020.12.005

TABLE 3.

The Age at Diagnosis and the Gender of the Uveal Melanoma Patients With BAP1 Germline Pathogenic (Null) Variants in the United States (n = 31)

Age, y Gender Mutation Type PubMed ID
50 Male Frameshift deletion 26719535
58 Male Frameshift insertion 22545102
53 Female Nonsense 22545102
37 Male Frameshift deletion 22545102
30 Female INDEL-multiexon deletion Unpublished
29 Male Nonsense 30883995
18 Female Frameshift deletion 25687217
67 Female Frameshift deletion 4041196
49 Male Frameshift deletion 4041196
62 Male Nonsense 27718540
63 Female Nonsense 27718540
Unknown Unknown Frameshift 25974357
Unknown Unknown Frameshift insertion 25974357
Unknown Unknown Frameshift insertion 25974357
59 Female Nonsense 21874000
48 Female Frameshift deletion 1005633
71 Male Frameshift deletion 1005633
53 Female Frameshift insertion 21051595
41 Female Nonsense 4041196
62 Male Frameshift insertion 22545102
51 Female Nonsense 22545102
55 Male Nonsense 22545102
57 Female Nonsense 22545102
Unknown Male Nonsense 22545102
49 Male Nonsense 4041196
22 Female Frameshift deletion 27718540
52 Female Nonsense 21941004
50 Female Nonsense 21941004
16 Female Whole Gene deletion 30883995
34 Female Nonsense Unpublished
64 Male Frameshift Unpublished

Age of onset of the disease was not available for 4 patients.

None of the variants were identified in the gnomAD database.