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. Author manuscript; available in PMC: 2020 May 19.
Published in final edited form as: Genet Med. 2019 Jun 4;21(11):2442–2452. doi: 10.1038/s41436-019-0535-9

Table 5.

Unaffected p.Met34Thr or p.Val37Ile homozygotes or compound heterozygotes confirmed by audiology evaluation.

Site ID Var 1 DNA Var 1 AA Var 2 DNA Var 2 AA Age tested Family history Ethnicity
LMM 56s c.109G>A p.Val37Ile c.109G>A p.Val37Ile 7 years old sibling Asian
NTMC 101 c.109G>A p.Val37Ile c.109G>A p.Val37Ile 28 years old no Asian
NTMC 102 c.109G>A p.Val37Ile c.109G>A p.Val37Ile 30 years old no Asian
TAU 13 c.101T>C p.Met34Thr c.269T>C p.Leu90Pro Adult unknown Ashkenazi/Iraqi Jewish
TAU 14 c.101T>C p.Met34Thr c.167delT p.Leu56Argfs unknown unknown Ashkenazi Jewish

Individuals without phenotypic information or audiology evaluation are not listed.