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. 2021 Mar 17;12(3):430. doi: 10.3390/genes12030430

Table 1.

Candidate Genetic Variants.

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.