Table 1.
Family | # of Affected Carriers | # of Unaffected Carriers I | Gene | Transcript | Protein Change | GnomAD Exome MAF | AnnEx State (Count) |
PD Genetics | UKB II and MGRB | CADD (Phred) |
---|---|---|---|---|---|---|---|---|---|---|
#002 | 5 | 2 | KCNJ15 | NM_001276436 | p.R28C | 1.22 × 10−5 | Non-PD (1) | 0 | 4 | 16.9 |
SON | NM_138927 | p.S1595P | 4.06 × 10−5 | 0 | 0 | 13 | 2.864 | |||
3 | PASK | NM_001252120 | p.P519L | 2.03 × 10−5 | 0 | 2 | 3 | 11.58 | ||
#431 | 3 | 2 | ARL14EP | NM_152316 | p.A146V | 0.00 | 0 | 0 | 0 | 21.5 |
HYDIN | NM_001270974 | p.A2271E | 4.44 × 10−6 | 0 | 0 | 0 | 4.081 | |||
PTPRA | NM_080840 | p.R223W | 5.32 × 10−5 | Non-PD (2) | 0 | 43 | 28.6 | |||
#433 | 3 | 1 | SIPA1L1 | NM_001284247 | p.R236Q | 2.85 × 10−5 | 0 | 0 | 13 | 16.02 |
#447 | 3 | 1 | ZNF462 | NM_021224 | p.I1523V | 4.06 × 10−6 | 0 | 0 | 0 | 11.9 |
DUSP19 | NM_001142314 | p.I111R | 4.06 × 10−6 | 0 | 0 | 0 | 24 | |||
KCTD1 | NM_001136205 | p.G134R | 4.07 × 10−6 | 0 | 0 | 0 | 4.792 | |||
TAF1C | NM_001243158 | p.R346Q | 8.29 × 10−6 | 0 | 1 | 0 | 2.672 | |||
DARS2 | NM_018122 | p.S59L | 1.22 × 10−5 | 0 | 0 | 0 | 15.29 | |||
EXPH5 | NM_001144765 | p.T920S | 2.88 × 10−5 | 0 | 0 | 1 | 10.15 | |||
FAM71B | NM_130899 | p.I318T | 6.10 × 10−5 | Non-PD (2) III | 1 | 2 | 0.01 | |||
CCDC180 | NM_020893 | p.R1684C | 8.53 × 10−5 | 0 | 0 | 3 | 12.13 | |||
#484 | 3 | 1 | TCP10L | NM_144659 | p.I54F | 0.00 | 0 | 0 | 0 | 5.434 |
ADCY4 | NM_001198568 | p.H760Q | 4.10 × 10−6 | 0 | 0 | 6 | 11.05 | |||
USP42 | NM_032172 | p.H952R | 5.69 × 10−6 | 0 | 0 | 1 | 14.75 | |||
UNC13B | NM_006377 | c.3188+1G>A | 1.63 × 10−5 | 0 | 1 | 0 | 25.6 | |||
CFTR | NM_000492 | p.K1080R | 2.85 × 10−5 | Non-PD (2) | 0 | 1 | 28.7 | |||
NINL | NM_025176 | p.Q1232H | 3.58 × 10−5 | 0 | 0 | 9 | 12.17 | |||
CST5 | NM_001900 | p.S66N | 3.67 × 10−5 | Non-PD (3) | 4 | 12 | 11.77 | |||
#460 | 3 IV | 1 | SLC2A12 | NM_145176 | p.S357L | 0.00 | 0 | 0 | 0 | 22 |
DOCK3 | NM_004947 | p.R392W | 0.00 | 0 | 0 | 0 | 18.96 | |||
TPR | NM_003292 | p.K1038N | 0.00 | 0 | 0 | 4 | 16.34 | |||
DNAH1 | NM_015512 | p.K1792R | 4.06 × 10−6 | 0 | 0 | 0 | 21.3 | |||
PCDHGA7 | NM_018920 | p.S667G | 1.63 × 10−5 | Non-PD (1) | 1 | 12 | 12.13 | |||
MYOT | NM_001135940 | p.N30K | 2.03 × 10−5 | Non-PD (1) | 1 | 10 | 6.21 | |||
KIF9 | NM_022342 | p.R287W | 2.44 × 10−5 | 0 | 0 | 0 | 20.4 | |||
DNAJC12 | NM_021800 | p.T99M | 4.06 × 10−5 | Non-PD (1) | 2 | 6 | 14.86 | |||
SLAMF8 | NM_020125 | p.V234E | 7.31 × 10−5 | Non-PD (1) | 2 | 21 | 17.11 | |||
ZNF75A | NM_153028 | p.Q212E | 8.95 × 10−5 | Non-PD (1), PD(2) V | 0 | 28 | 14.51 |
I Carriers >80 years, II UKB controls, III Frontotemporal Dementia, IV Undiagnosed tremor not included, V family #006. Minor Allele Frequency: MAF; Parkinson’s disease: PD; United Kingdom BioBank: UKB; Medical Genome Reference Bank: MGRB; Combined Annotation Dependent Depletion: CADD. (1)–(3): These are the counts of that state.