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. 2021 Jun 18;106(11):e4680–e4687. doi: 10.1210/clinem/dgab440

Table 4.

Rare variants identified in the chromosome 14q locus, linked with GD

SNV Position T U P value Transcript Location of SNV Common allele Rare variant
GD14.1001 74,902,807 0 6 0.01431 NM_001933:DLST exonic G A
GD14.1002 72,969,587 0 5 0.02535 NM_178441:ZFYVE1 exonic GG CA

Abbreviations: SNV, single nucleotide variant; T, transmitted to affected offspring; U, untransmitted to affected offspring.