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. 2020 Feb 14;30(2):204–213. doi: 10.1089/thy.2019.0156

Table 2.

Three Missense Variants in Shelterin Genes in 24 Nonmedullary Thyroid Cancer Families

Family Genomic positiona dbSNP GnomAD REF ALT Gene Ref. gene Amino acid change SIFT Polyphen
Family 1 chr14:24709044 rs1464083474 0.00003 C G TINF2 NM_001099274 p.Val439Leu Tolerated Benign
Family Bb chr14:24711465 rs202093758 0.00177 C G TINF2 NM_012461 p.Gly25Ala Tolerated Benign
Family Hb chr16:67693939 rs142662151 0.00035 C T ACD NM_001082486 p.Asp123Asn Deleterious Possibly damaging
a

Genomic position: GRCh37.p13.

b

The families B and H and the WGS data have been reported (11).

ALT, altered allele; REF, reference allele; WGS, whole genome sequencing.