Table 3 Overview of the 7 top-ranked germline variants detected in the PTC family.
Gene Name | Gene Description | Variant | Variant nomenclature$ | Variant type | No. of cases | No. of unknown cases | ANNOVAR Annotation | Exonic Classification | CADD score |
|---|---|---|---|---|---|---|---|---|---|
C1orf27 | chromosome 1 open reading frame 27 | 1_186355211_G_A | NM_017847.5:exon4:c.G326A:p.R109H | SNVs | 2 | 0 | exonic | nonsynonymous SNV | 25.1 |
FAM129A | family with sequence similarity 129, member A | 1_184792402_T_C | NM_052966.3:exon8:c.A884G:p.K295R | SNVs | 2 | 0 | exonic | nonsynonymous SNV | 23.9 |
ZBTB41 | zinc finger and BTB domain containing 41 | 1_197128680_C_T | NM_194314.2:exon10:c.G2539A:p.D847N | SNVs | 2 | 0 | exonic | nonsynonymous SNV | 23.1 |
CPXM1 | carboxypeptidase X (M14 family), member 1 | 20_2776248_C_T | NM_019609.4:exon11:c.G1717A:p.G573R | SNVs | 2 | 0 | exonic | nonsynonymous SNV | 32 |
KCNE3 | potassium voltage-gated channel, Isk-related family, member 3 | 11_74167200_AATAT_A | NM_005472.4:c.*1097–1097delATAT | Indel | 2 | 0 | ncRNA_UTR3 | . | 11 |
AR | androgen receptor | X_66765158_T_TGCAGCAGCA | NM_000044.3:c.239_240insGCAGCAGCA | Indel | 2 | 0 | exonic | nonframeshift insertion | 12.8 |
NLK | glucose-6-phosphate isomerase | 17_26522009_T_TCACA | NM_016231.4:c.*347_*348insCACA | Indel | 2 | 0 | UTR3 | . | 11.7 |
