Table 2 Characteristics of the 6 PD cases who carried UQCRC1 HC PTVs
Snp | Chr | Pos | Ref | Alt | AF | gnomAD AF | Variant type | Age at diagnosis | Source | Sex | AA | AApos | GQ | DP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
rs369886828 | 3 | 48604321 | G | A | 2.13E−05 | 1.95E−05 | Stop gained | 70–75 | HS | M | R/* | 180 | 40 | 64 |
rs763576784 | 3 | 48600726 | CACAG | C | 2.98E−05 | 4.15E−05 | Frameshift | 75–80 | HS | F | VC/X | 359–360 | 41 | 87 |
rs763576784 | 3 | 48600726 | CACAG | C | 2.98E−05 | 4.15E−05 | Frameshift | 70–75 | HS | F | VC/X | 359–360 | 39 | 66 |
rs1185146623 | 3 | 48603588 | G | A | 4.26E−06 | 3.39E−06 | Stop gained | 75–80 | HS | M | R/* | 228 | 41 | 59 |
rs1406017546 | 3 | 48599659 | G | A | 2.13E−06 | 1.70E−06 | Stop gained | 65–70 | HS | F | Q/* | 452 | 39 | 75 |
rs2531432332 | 3 | 48600152 | C | A | 3.19E−06 | 3.39E−06 | Splice acceptor | 65–70 | HS | F | – | – | 33 | 43 |
