Table 2.
Potential somatic mutations in APA_UM16 after whole-exome sequencing
| No. | Chr | Position | Validated by Sanger sequencing | Validated by targeted amplicon sequencing | Gene | Type | Amino acid change | VF (tumor) | VF (normal) |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 3 | 184076912 | Yes | Yes | CLCN2 | Missense | p.G24D | 52/174 (30%) | 0/76 (0%) |
| 2 | 3 | 173996717 | No | No | NLGN1 | Missense | p.P309L | 15/62 (24%) | 0/57 (0%) |
| 3 | 14 | 20876109 | No | No | TEP1 | Frameshift | p.K164fs | 8/82 (10%) | 0/65 (0%) |
| 4 | 9 | 131020795 | No | No | GOLGA2 | Disruptive_Inframe_Deletion | p.Glu715del | 15/117 (13%) | 0/47 (0%) |
| 5 | 14 | 23549878 | No | No | ACIN1 | Disruptive_Inframe_Deletion | p.Glu280del | 8/80 (10%) | 1/67 (1%) |
| 6 | 2 | 67631670 | No | No | ETAA1 | Inframe_Deletion | p.Leu649_Lys677del | 7/81 (9%) | 0/63 (0%) |
| 7 | 3 | 158450159 | No | No | RARRES1 | Start_Lost and Inframe_Deletion | p.Met1_Pro15del | 6/109 (6%) | 0/67 (0%) |
| 8 | 3 | 130743760 | No | No | ASTE1 | Missense | p.Arg131Trp | 6/94 (6%) | 0/8 2(0%) |
| 9 | 17 | 42756274 | No | No | CCDC43 | Missense | p.Arg209Cys | 6/113 (5%) | 0/87 (0%) |
| 10 | 22 | 40391306 | No | No | FAM83F | Inframe_Deletion | p.Lys92_Ala93del | 10/197 (5%) | 0/134(0%) |
| 11 | 1 | 8716291 | No | No | RERE | Disruptive_Inframe_Deletion | p.Asp18_Arg21del | 6/119 (5%) | 0/86 (0%) |
Abbreviations: APA, aldosterone-producing adenoma; Chr, chromosome; VF, variant allele frequency.