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. 2019 Dec;5(6):a004648. doi: 10.1101/mcs.a004648

Table 1.

PTEN and TP53 variant information

Gene Chr:Pos (hg19) HGVS DNA reference HGVS protein reference Variant type Predicted effect (ACMG) dbSNP Genotype ClinVar ID
PTEN 10:89717717-89717717 c.151C > T, c.742 C > T, c.1261C > T p.P51S, p.P248S, p.P421S Missense Uncertain significance - Heterozygous -
TP53 17:7577535-7577535 c.269G > T, c.350G > T, c.629G > T, c.713G > T, c.746G > T p.R90M, p.R117M, p.R210M, p.R238M, p.R249M Missense Pathogenic 587782329 Heterozygous RCV000428988.1