Case Report
A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
Table 1
Somatic non-synonymous single nucleotide variations.
| Gene | Chr | Position | Reference allele | Tumor allele | Zygosity | Region | Type | Transcript | Exon | CDS position | Protein change |
| APBA1 | 9 | 72067091 | C | T | Hetero | Exonic | Nonsynonymous | NM_001163 | 9 | c.G1915A | p.D639N | ARHGAP5 | 14 | 32560713 | G | T | Hetero | Exonic | Nonsynonymous | NM_001030055 | 2 | c.G838T | p.V280L | CCDC74A | 2 | 132288362 | T | C | Hetero | Exonic | Nonsynonymous | NM_138770 | 3 | c.T506C | p.M169T | EP300 | 22 | 41523603 | A | T | Hetero | Exonic | Nonsynonymous | NM_001429 | 4 | c.A1019T | p.Q340L | GRIK3 | 1 | 37324744 | G | A | Hetero | Exonic | Nonsynonymous | NM_000831 | 7 | c.C1069T | p.R357C | KIAA0319L | 1 | 35972628 | G | T | Hetero | Exonic | Stop-gain | NM_024874 | 3 | c.C251A | p.S84X | KIAA1109 | 4 | 123207860 | G | C | Hetero | Exonic | Nonsynonymous | NM_015312 | 51 | c.G9202C | p.D3068H | KRT18 | 12 | 53343059 | C | A | Hetero | Exonic | Nonsynonymous | NM_199187 | 2 | c.C102A | p.S34R | LRRC1 | 6 | 53778709 | A | G | Hetero | Exonic | Nonsynonymous | NM_018214 | 11 | c.A1048G | p.I350V | LRRC8E | 19 | 7963808 | G | A | Hetero | Exonic | Nonsynonymous | NM_025061 | 3 | c.G401A | p.S134N | MYO10 | 5 | 16694556 | G | A | Hetero | Exonic | Nonsynonymous | NM_012334 | 27 | c.C3724T | p.R1242C | SAMD8 | 10 | 76910566 | A | G | Hetero | Exonic | Nonsynonymous | NM_144660 | 2 | c.A280G | p.M94V | SLC25A36 | 3 | 140675512 | C | A | Hetero | Exonic | Nonsynonymous | NM_018155 | 2 | c.C185A | p.P62H | WARS2 | 1 | 119575781 | T | C | Hetero | Exonic | Nonsynonymous | NM_015836 | 6 | c.A836G | p.H279R |
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Chr: chromosome, Bolded genes are in cosmic v61.
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