Variants with conflicting interpretations studied for See cases

Minimum review status of the submission for See cases:		Collection method of the submission for See cases:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
24729	1047	14	329	249	12	194	720

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
See cases		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	drug response	protective	other
	pathogenic	1	103	42	6	9	0	1	2	3
	likely pathogenic	189	1	76	2	4	0	0	1	5
	uncertain significance	57	41	11	146	71	1	2	1	3
	likely benign	3	3	55	1	31	0	0	1	1
	benign	5	1	33	20	0	0	0	0	0

Condition to condition summary #

Total conditions: 226

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
not provided	0	707	3	281	170	4	135	559
not specified	0	171	0	21	59	0	42	116
See cases	26146	284	11	13	30	0	22	66
Cardiovascular phenotype	0	75	0	6	17	0	3	24
Malignant hyperthermia, susceptibility to, 1	0	2	0	1	3	0	2	6
Fetal anomalies with a likely genetic cause	0	7	0	2	0	0	3	5
RYR1-related disorder	0	5	0	4	0	0	1	5
EP300-related disorder	0	0	0	3	1	0	0	4
Spastic paraplegia	0	1	0	1	3	0	2	4
Tip-toe gait	0	4	0	2	0	0	2	4
Global developmental delay	0	4	0	1	1	0	3	3
Hereditary nonpolyposis colorectal neoplasms	0	2	0	1	3	0	1	3
POLG-related disorder	0	2	0	1	0	0	2	3
Rare genetic deafness	0	7	0	2	0	0	1	3
Seizure	0	5	0	3	0	0	1	3
AUTS2-related disorder	0	0	0	1	0	0	1	2
Autosomal recessive retinitis pigmentosa	0	2	0	2	0	0	0	2
Breast and/or ovarian cancer	0	2	0	1	1	0	0	2
Epileptic encephalopathy	0	4	0	2	0	0	1	2
Hereditary cancer	0	1	0	0	2	0	1	2
Hirschsprung disease, susceptibility to, 1	0	1	0	1	1	0	0	2
Inherited Immunodeficiency Diseases	0	1	0	2	0	0	1	2
Lambdoidal craniosynostosis	0	0	0	1	0	0	1	2
Primary Mitochondrial Disorders	0	0	0	2	0	0	0	2
SPATA5L1-associated disorder	0	0	0	2	0	0	0	2
TNXB-related disorder	0	0	0	0	2	0	0	2
11p13 microduplication syndrome	0	0	0	0	1	0	1	1
11p13p14 deletion	0	0	0	1	0	0	1	1
16p12.3p13.12 deletion	0	0	0	1	0	0	1	1
16p13.1 duplication	0	0	0	1	0	0	1	1
16p13.11 recurrent microdeletion syndrome	0	0	0	1	0	0	1	1
16p13.2-p13.13 microduplication syndrome	0	0	0	1	0	0	1	1
1p13.3 deletion syndrome	0	0	0	1	0	0	1	1
1q24q25 microdeletion syndrome	0	0	0	1	0	0	1	1
22q13.3 interstitial deletion	0	0	0	1	0	0	1	1
3p25.3p26.3 deletion	0	0	0	1	0	0	1	1
6q14.1q15 deletion	0	0	0	1	0	0	1	1
ADAM22-related disorder	0	0	0	1	0	0	0	1
ALPL-related disorder	0	1	0	1	0	0	0	1
ANK1-related disorder	0	0	0	0	1	0	0	1
APOB-related disorder	0	1	0	1	0	0	0	1
ARF3-related disorder	0	0	0	1	0	0	0	1
ARID1B-Related Disorder	0	1	0	1	0	0	0	1
ASCC1-related disorder	0	0	0	1	0	0	0	1
ATAD3 gene cluster related condition	0	0	0	0	1	0	1	1
ATN1-related disorder	0	0	0	0	1	0	0	1
ATP2A1-related disorder	0	0	0	0	1	0	0	1
Abnormal bleeding	0	0	0	1	0	0	1	1
Abnormal brain morphology	0	1	0	1	0	0	0	1
Acute rhabdomyolysis	0	1	0	0	0	0	1	1
Adult polyglucosan body neuropathy	0	0	0	1	0	0	0	1
Aminoaciduria	0	0	0	1	0	0	1	1
Anophthalmia-microphthalmia syndrome	0	0	0	1	0	0	1	1
Arthrogryphosis	0	0	0	0	1	0	1	1
Atypical behavior; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Mild intellectual disability; Secondary microcephaly	0	0	0	0	1	0	1	1
Atypical behavior; Moderate global developmental delay	0	0	0	0	1	0	1	1
Autistic behavior; Absent speech	0	0	0	0	1	0	1	1
Autistic behavior; Moderate global developmental delay	0	0	0	1	0	0	1	1
Autistic behavior; Severe global developmental delay	0	0	0	1	0	0	1	1
Autosomal recessive RDH5-related disorders	0	0	0	1	0	0	0	1
BAP1-associated neurodevelopmental disorder	0	0	0	0	0	0	1	1
BAZ2B-related disorder	0	0	0	0	0	0	1	1
BMP4-related disorder	0	0	0	0	0	0	1	1
BUB1B-related disorder	0	0	0	0	1	0	0	1
CAVIN1-related disorder	0	0	0	0	1	0	0	1
CD36-related disorder	0	0	0	0	1	0	0	1
CECR2-related neurodevelopmental disorder	0	0	0	0	0	0	1	1
CIC-related disorder	0	1	0	0	1	0	0	1
CLCN4-related disorder	0	0	0	0	0	0	1	1
CLN8-related disorder	0	0	0	0	1	0	0	1
CNGA1-related disorder	0	0	0	1	0	0	0	1
CNGB1-related disorder	0	0	0	1	0	0	0	1
COL4A2-related disorder	0	1	0	0	1	0	0	1
COL7A1-related disorder	0	2	0	1	0	0	0	1
COLEC10-related disorder	0	0	0	1	0	0	0	1
CPLANE1-related disorder	0	0	0	0	0	0	1	1
CYBA-related disorder	0	0	0	0	1	0	0	1
Cancer progression and tumor cell motility	0	0	0	0	0	0	1	1
Cationic Amino Acid Transporter 2 Deficiency	0	0	0	0	1	0	1	1
Colorectal cancer, protection against	0	0	0	0	0	1	0	1
DAP3-related disorder	0	0	0	0	0	0	1	1
DHCR7-related disorder	0	1	0	1	0	0	0	1
DONSON-related disorder	0	0	0	0	0	0	1	1
Deep venous thrombosis	0	0	0	1	0	0	1	1
Delayed puberty	0	0	0	1	0	0	0	1
Delayed speech and language development	0	0	0	1	0	0	1	1
Developmental disorder	0	1	0	0	1	0	0	1
Dilated and arrhythmogenic cardiomyopathy	0	0	0	1	0	0	0	1
Duodenal stenosis	0	0	0	1	0	0	0	1
Dyslipidemia	0	6	0	1	0	0	0	1
Dysmorphic features	0	0	0	0	0	0	1	1
EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma	0	0	0	0	0	0	1	1
ENG-related disorder	0	1	0	1	0	0	0	1
EVI2A-related disorder	0	0	0	1	0	0	0	1
Elevated circulating creatine kinase concentration	0	0	0	1	0	0	1	1
Encephalopathy	0	0	0	0	1	0	1	1
Epileptic spasm	0	0	0	1	0	0	0	1
F8-related disorder	0	0	0	0	0	0	1	1
FAM111A-related disorder	0	0	0	0	0	0	1	1
FBN1-related disorder	0	3	0	0	1	0	0	1
FGFR4-related disorder	0	0	0	0	1	0	0	1
FIBRINOGEN CHRISTCHURCH 2	0	0	0	0	0	1	0	1
FLNA-related disorder	0	1	0	0	1	0	0	1
Focal-onset seizure	0	0	0	1	0	0	1	1
Fundus albipunctatus, autosomal recessive	0	0	0	1	0	0	0	1
G6PD CAGLIARI	0	0	0	0	0	1	0	1
G6PD GASTONIA	0	0	0	0	0	1	0	1
G6PD MARION	0	0	0	0	0	1	0	1
G6PD MEDITERRANEAN	0	0	0	0	0	1	0	1
G6PD MINNESOTA	0	0	0	0	0	1	0	1
G6PD SASSARI	0	0	0	0	0	1	0	1
G6PD deficient hemolytic anemia	0	0	0	1	0	0	0	1
G6PD-related disorder	0	0	0	1	0	0	0	1
GAA-related disorder	0	0	0	1	0	0	0	1
GARS1-related disorder	0	0	0	0	0	0	1	1
GBE1-related disorder	0	1	0	0	1	0	0	1
GIGYF1-related neurodevelopmental disorder	0	0	0	1	0	0	1	1
GLUD2-related disorder	0	0	0	0	1	0	0	1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation	0	0	0	1	0	0	1	1
Global developmental delay; Expressive language delay; Secondary microcephaly	0	0	0	1	0	0	1	1
Global developmental delay; Failure to thrive	0	0	0	1	0	0	0	1
Global developmental delay; Myopathic facies; Hypotonia	0	0	0	1	0	0	0	1
Global developmental delay; Seizure; Hypotelorism; Short philtrum; Floppy infant	0	0	0	0	1	0	1	1
Glutaric acidemia type 2C	0	0	0	0	0	0	1	1
Growth abnormality	0	0	0	0	1	0	1	1
HEXB-related disorder	0	0	0	1	0	0	0	1
HIVEP2-related disorder	0	0	0	1	0	0	0	1
Hemolytic anemia, G6PD deficient (favism)	0	0	0	1	0	0	0	1
Hereditary hyperinsulinism	0	1	0	1	0	0	0	1
Hypercholesterolemia	0	2	0	0	0	0	1	1
Hypophosphataemia or rickets	0	0	0	1	0	0	0	1
Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Immunodeficiency 47	0	0	0	1	0	0	1	1
Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability	0	0	0	1	0	0	0	1
Internal malformations	0	0	0	0	1	0	1	1
Interstitial 6q microdeletion syndrome	0	0	0	1	0	0	1	1
KMT2C-related disorder	0	1	0	0	1	0	0	1
LMBRD2-related disorder	0	0	0	1	0	0	0	1
LPIN1-related disorder	0	0	0	1	0	0	0	1
LPIN2-related disorder	0	0	0	0	1	0	0	1
Luteinizing hormone resistance, female	0	0	0	1	0	0	0	1
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO	0	0	1	0	0	0	0	1
MBD5 associated neurodevelopmental disorder	0	0	0	1	0	0	1	1
MCCC2-related disorder	0	0	0	1	0	0	0	1
MECP2-related disorder	0	6	0	0	1	0	0	1
MED13L-related disorder	0	0	0	0	1	0	0	1
MEFV-related disorder	0	1	0	0	1	0	0	1
MSH6-related disorder	0	0	0	0	1	0	0	1
MT-ATP6-related disorder	0	0	0	1	0	0	0	1
MT-ATP6-related primary mitochondrial disease	0	0	0	0	0	0	1	1
MYLK2-related disorder	0	0	0	0	1	0	0	1
Macular dystrophy	0	2	0	1	0	0	0	1
Malaria, susceptibility to	0	1	0	1	0	0	0	1
Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency	0	0	0	1	0	0	0	1
Marfanoid habitus and intellectual disability	0	0	0	1	0	0	1	1
Maternally-inherited mitochondrial myopathy	0	0	0	1	0	0	0	1
Migalastat response	0	0	0	0	0	1	0	1
Mild intellectual disability	0	0	0	1	1	0	1	1
Mitochondrial DNA-Associated Leigh Syndrome and NARP	0	0	0	1	0	0	0	1
Multiminicore/minicore/multicore disease	0	0	0	0	1	0	0	1
Muscle dystrophy	0	0	0	1	0	0	1	1
Myocardial infarction, susceptibility to; Congenital factor VII deficiency	0	1	0	1	0	0	0	1
Myopathy, RYR1-associated	0	0	0	1	0	0	0	1
NAGA-related disorder	0	0	0	1	0	0	0	1
NBAS-related disorder	0	0	0	1	0	0	0	1
NEB-related disorder	0	0	0	0	1	0	0	1
NOTCH3-related disorder	0	1	0	1	0	0	0	1
Neurodevelopmental abnormality	0	2	0	1	0	0	0	1
Neurodevelopmental delay	0	9	0	1	0	0	0	1
Noonan-like disorder	0	0	0	1	0	0	0	1
OSGEP-related disorder	0	0	0	1	0	0	0	1
PAX7-related disorder	0	0	0	0	1	0	0	1
PCNT-related disorder	0	0	0	0	1	0	0	1
PHGDH-related disorder	0	0	0	1	0	0	0	1
PI M(PROCIDA)	0	0	0	0	0	1	0	1
PI Z	0	0	0	0	0	1	0	1
PI Z(AUGSBURG)	0	0	0	0	0	1	0	1
PI Z(TUN)	0	0	0	0	0	1	0	1
PIK3CA constitutional syndrome	0	0	0	1	0	0	0	1
PKHD1-related disorder	0	2	0	0	0	0	1	1
POLR1A-related disorder	0	0	0	1	0	0	0	1
PPFIA3-related disorder	0	0	0	1	0	0	1	1
PTEN-related disorder	0	0	0	0	1	0	0	1
PTPN11-related disorder	0	2	0	1	0	0	0	1
Pediatric metastatic thyroid tumour	0	0	0	1	0	0	1	1
Pituitary hormone deficiency	0	1	0	1	0	0	0	1
Progressive cerebellar ataxia	0	0	0	1	0	0	0	1
RDH5-related disorder	0	0	0	1	0	0	0	1
RHD DEL	0	0	0	1	0	0	1	1
Renal transitional cell carcinoma	0	0	0	1	0	0	1	1
SDK2-related disorder	0	0	0	0	1	0	0	1
SFTPA1-related disorder	0	0	0	1	0	0	0	1
SHANK1-related Neurodevelopmental Disorder	0	0	0	1	0	0	0	1
SKIC2-related disorder	0	0	0	0	1	0	0	1
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN	0	2	0	1	0	0	0	1
SLC4A10-related neurodevelopmental disorder	0	0	0	1	0	0	1	1
SMAD3-related disorder	0	0	0	0	1	0	0	1
SMARCAL1-related disorder	0	0	0	0	1	0	0	1
Seizure; Self-injurious behavior; Tremor; Severe intellectual disability; Severe global developmental delay	0	0	0	1	0	0	0	1
Severe intellectual disability	0	0	0	1	0	0	1	1
Silver Russell Syndrome-related disorder	0	0	0	0	1	0	1	1
Spinocerebellar ataxia, X-linked	0	0	0	0	0	1	0	1
Splenomegaly; Decreased circulating immunoglobulin concentration	0	0	0	1	0	0	1	1
Susceptibility to severe coronavirus disease (COVID-19)	0	0	0	0	0	0	1	1
TARDBP-related disorder	0	0	0	1	0	0	0	1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy	0	0	0	1	0	0	1	1
TMEM70-related disorder	0	0	0	1	0	0	0	1
TRIT1 Deficiency	0	0	0	1	0	0	0	1
TRMT10C-related disorder	0	0	0	1	0	0	0	1
TRRAP-related disorder	0	0	0	0	1	0	0	1
USH2A-related disorder	0	2	0	1	0	0	0	1
VARS2-related disorder	0	0	0	0	0	0	1	1
VKORC1-related disorder	0	0	0	0	1	0	0	1
Vascular skin disorders	0	0	0	1	0	0	0	1
WDR37-related disorder	0	0	0	0	1	0	0	1
WWOX-related disorder	0	0	0	1	0	0	0	1
YWHAZ-related neurodevelopmental syndrome	0	0	0	1	0	0	0	1
ZNF331 deletion	0	0	0	0	1	0	1	1
acenocoumarol response - Dosage	0	0	0	0	0	1	0	1
intellectual deficiency; dysmorphy	0	0	0	0	0	0	1	1
ivacaftor / lumacaftor response - Efficacy	0	0	0	0	0	1	0	1
ivacaftor / tezacaftor response - Efficacy	0	0	0	0	0	1	0	1
phenprocoumon response - Dosage	0	0	0	0	0	1	0	1
phenprocoumon response - Toxicity	0	0	0	0	0	1	0	1
warfarin response - Dosage	0	0	0	0	0	1	0	1
warfarin response - Efficacy	0	0	0	0	0	1	0	1
warfarin response - Toxicity	0	0	0	0	0	1	0	1

All variants with conflicting interpretations #

Total variants: 720

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HGVS	dbSNP	gnomAD frequency
NM_001002294.3(FMO3):c.472G>A (p.Glu158Lys)	rs2266782	0.40810
NM_024006.4(VKORC1):c.-1639G>A	rs9923231	0.31727
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	rs1801133	0.27446
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg)	rs351855	0.26099
NM_016358.3(IRX4):c.90A>C (p.Gly30=)	rs2232374	0.24160
NM_016358.3(IRX4):c.1203G>A (p.Ala401=)	rs1689717	0.12779
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_005411.5(SFTPA1):c.56T>C (p.Val19Ala)	rs1059047	0.08215
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala)	rs9697983	0.03160
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01412
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)	rs28929474	0.01282
NM_001013839.4(EXOC7):c.417+41C>G	rs113648734	0.01079
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00944
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met)	rs77351975	0.00667
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)	rs144360241	0.00541
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)	rs148869805	0.00464
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)	rs61730509	0.00389
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)	rs35224402	0.00362
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)	rs121918166	0.00350
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00347
NM_001142800.2(EYS):c.6725+10G>A	rs140506043	0.00325
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile)	rs139554429	0.00321
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_001365276.2(TNXB):c.11539G>A (p.Gly3847Ser)	rs199688928	0.00315
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00312
NM_001510.4(GRID2):c.2218G>A (p.Val740Ile)	rs150846341	0.00306
NM_001354930.2(RIPK1):c.1730-15T>C	rs113605768	0.00284
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter)	rs76308115	0.00283
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00279
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)	rs201715229	0.00258
NM_173728.4(ARHGEF15):c.1250G>T (p.Arg417Leu)	rs142119277	0.00258
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg)	rs144778786	0.00252
NM_000055.4(BCHE):c.635C>T (p.Ala212Val)	rs114706984	0.00249
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)	rs1801696	0.00249
NM_015114.3(ANKLE2):c.1961G>A (p.Arg654Gln)	rs77116800	0.00248
NM_006734.4(HIVEP2):c.194G>T (p.Gly65Val)	rs61729347	0.00229
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	rs35586704	0.00228
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	rs34424986	0.00226
NM_015425.6(POLR1A):c.4412A>G (p.Glu1471Gly)	rs61731718	0.00222
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)	rs121434529	0.00219
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys)	rs147559466	0.00210
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser)	rs142021049	0.00204
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)	rs139084702	0.00200
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)	rs72653077	0.00198
NM_005559.4(LAMA1):c.1239C>A (p.Asp413Glu)	rs144278838	0.00198
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)	rs121918007	0.00190
NM_006059.4(LAMC3):c.4130C>T (p.Thr1377Ile)	rs144662546	0.00189
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00188
NM_000540.3(RYR1):c.9555-9G>A	rs149569999	0.00185
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)	rs116987552	0.00178
NM_005051.3(QARS1):c.117+17C>T	rs202012811	0.00167
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)	rs59052554	0.00164
NM_001083962.2(TCF4):c.1351-19G>A	rs200963418	0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)	rs181250704	0.00151
NM_001135254.2(PAX7):c.335C>T (p.Pro112Leu)	rs142754204	0.00151
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs113994094	0.00151
NM_001378452.1(ITPR1):c.2007-3T>C	rs200335594	0.00148
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)	rs147688221	0.00146
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_000718.4(CACNA1B):c.1543+13G>A	rs200007246	0.00140
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln)	rs104893837	0.00132
NM_152703.5(SAMD9L):c.1372G>T (p.Ala458Ser)	rs140536419	0.00131
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met)	rs139872089	0.00129
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met)	rs143713841	0.00118
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn)	rs147608206	0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	rs201162411	0.00116
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr)	rs145361311	0.00112
NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)	rs200408101	0.00111
NM_005993.5(TBCD):c.1534-4G>A	rs116536514	0.00111
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	rs147136339	0.00110
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp)	rs11568514	0.00110
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	rs146429605	0.00107
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)	rs192877602	0.00104
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln)	rs144141099	0.00098
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)	rs145451123	0.00098
NM_006618.5(KDM5B):c.3520G>A (p.Val1174Met)	rs143647342	0.00095
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	rs138481453	0.00092
NM_000489.6(ATRX):c.5787-20G>T	rs185359850	0.00090
NM_014975.3(MAST1):c.1906+8C>T	rs149277170	0.00087
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	rs138016359	0.00085
NM_018082.6(POLR3B):c.3066C>A (p.Ala1022=)	rs145991322	0.00084
NM_022720.7(DGCR8):c.2276C>T (p.Ala759Val)	rs148884257	0.00081
NM_018082.6(POLR3B):c.2796C>T (p.His932=)	rs141030994	0.00080
NM_004366.6(CLCN2):c.370C>T (p.Arg124Trp)	rs139188499	0.00079
NM_001324418.2(ADAM22):c.659C>G (p.Pro220Arg)	rs201142062	0.00076
NM_004366.6(CLCN2):c.2683G>A (p.Asp895Asn)	rs150751460	0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	rs137932199	0.00073
NM_001371986.1(UNC80):c.3350G>C (p.Ser1117Thr)	rs78499613	0.00073
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp)	rs201412882	0.00071
NM_001813.3(CENPE):c.4273G>A (p.Gly1425Arg)	rs116330917	0.00069
NM_001399.5(EDA):c.1001G>A (p.Arg334His)	rs142948132	0.00066
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)	rs199504211	0.00066
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys)	rs144915346	0.00065
NM_015971.4(MRPS7):c.550A>G (p.Met184Val)	rs115047866	0.00064
NM_001365276.2(TNXB):c.3322G>A (p.Val1108Met)	rs121912575	0.00061
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)	rs149300669	0.00061
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)	rs150526992	0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C	rs151279194	0.00060
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00059
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val)	rs28364997	0.00057
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)	rs74315342	0.00054
NM_033109.5(PNPT1):c.223-9A>T	rs202243908	0.00054
NM_020812.4(DOCK6):c.518G>A (p.Arg173Gln)	rs373956807	0.00053
NM_000372.5(TYR):c.1037-7T>A	rs61754381	0.00051
NM_001940.4(ATN1):c.1865C>G (p.Ala622Gly)	rs150801397	0.00050
NM_018082.6(POLR3B):c.2818-14T>C	rs370333143	0.00050
NM_014339.7(IL17RA):c.427C>T (p.Arg143Cys)	rs145378071	0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)	rs137852944	0.00048
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)	rs28942073	0.00047
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)	rs202088921	0.00047
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)	rs140853839	0.00046
NM_000140.5(FECH):c.362A>G (p.Glu121Gly)	rs141813907	0.00043
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys)	rs202029322	0.00043
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)	rs190521996	0.00042
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr)	rs149282970	0.00041
NM_005726.6(TSFM):c.688G>T (p.Val230Leu)	rs151248026	0.00041
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	rs145252402	0.00036
NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)	rs764928653	0.00036
NM_003172.4(SURF1):c.313_321del (p.Leu105_Ala107del)	rs759270179	0.00036
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)	rs140076803	0.00036
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)	rs202201763	0.00036
NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys)	rs145825553	0.00036
NM_000088.4(COL1A1):c.334-5C>A	rs115997082	0.00035
NM_005006.7(NDUFS1):c.1516G>A (p.Val506Ile)	rs137889316	0.00034
NM_005051.3(QARS1):c.316G>A (p.Asp106Asn)	rs141983717	0.00034
NM_001211.6(BUB1B):c.1371A>G (p.Gln457=)	rs141013408	0.00033
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)	rs139007744	0.00033
NM_000501.4(ELN):c.1358-199G>A	rs781963901	0.00032
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met)	rs184436336	0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	rs36111204	0.00032
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His)	rs201916690	0.00031
NM_000088.4(COL1A1):c.1768-8C>T	rs193922142	0.00030
NM_000179.3(MSH6):c.4002-10T>A	rs545466048	0.00030
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)	rs75193786	0.00030
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)	rs148776624	0.00030
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr)	rs143274889	0.00030
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)	rs149718203	0.00030
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	rs143335584	0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys)	rs45517391	0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)	rs5742904	0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00028
NM_001354712.2(THRB):c.11A>G (p.Asn4Ser)	rs114070375	0.00027
NM_006031.6(PCNT):c.9099+14G>A	rs370266308	0.00027
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val)	rs113994012	0.00027
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp)	rs140590144	0.00025
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)	rs532223684	0.00024
NM_001375524.1(TRRAP):c.634-3C>T	rs113339948	0.00023
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg)	rs56061641	0.00022
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	rs201962592	0.00021
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	rs950301098	0.00021
NM_022455.5(NSD1):c.6463+8C>A	rs147592452	0.00021
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys)	rs201664019	0.00020
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)	rs200187663	0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met)	rs143570936	0.00019
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	rs376103091	0.00019
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)	rs367685759	0.00019
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro)	rs201980005	0.00019
NM_001854.4(COL11A1):c.1296A>G (p.Ala432=)	rs768321160	0.00018
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)	rs62638191	0.00018
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile)	rs199646208	0.00018
NM_015015.3(KDM4B):c.1336C>T (p.Arg446Trp)	rs201358147	0.00017
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)	rs201058867	0.00016
NM_012062.5(DNM1L):c.2151A>G (p.Leu717=)	rs149256584	0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)	rs139003032	0.00016
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)	rs782339984	0.00015
NM_012062.5(DNM1L):c.285C>T (p.His95=)	rs374173514	0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	rs201240745	0.00015
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)	rs201422931	0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	rs142808899	0.00014
NM_003041.4(SLC5A2):c.885+5G>A	rs200228142	0.00014
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile)	rs369978695	0.00014
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val)	rs112858705	0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)	rs45478699	0.00013
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)	rs200028088	0.00013
NM_005902.4(SMAD3):c.777C>T (p.Gly259=)	rs145414319	0.00013
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe)	rs372356069	0.00013
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu)	rs199730889	0.00013
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)	rs764148985	0.00012
NM_001164508.2(NEB):c.6175G>A (p.Ala2059Thr)	rs369215974	0.00012
NM_001386298.1(CIC):c.572G>A (p.Gly191Asp)	rs564911507	0.00012
NM_006946.4(SPTBN2):c.4959C>T (p.Asp1653=)	rs572061488	0.00012
NM_001003699.4(RREB1):c.1213G>A (p.Gly405Ser)	rs146744494	0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu)	rs201905405	0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met)	rs116040763	0.00011
NM_001365276.2(TNXB):c.2730G>A (p.Ala910=)	rs564894886	0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter)	rs759003928	0.00011
NM_001375808.2(LPIN2):c.1169-3C>T	rs200259086	0.00011
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg)	rs772707021	0.00011
NM_001846.4(COL4A2):c.1978+4T>C	rs372577230	0.00011
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)	rs121964999	0.00011
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_017866.6(TMEM70):c.317-2A>G	rs183973249	0.00011
NM_019096.5(GTPBP2):c.881-18G>A	rs377499258	0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	rs140511594	0.00011
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn)	rs769114543	0.00011
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	rs200546266	0.00010
NM_017757.3(ZNF407):c.41A>G (p.Glu14Gly)	rs762941748	0.00010
NM_032119.4(ADGRV1):c.13757A>G (p.Glu4586Gly)	rs371917393	0.00010
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)	rs146392305	0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser)	rs80358768	0.00009
NM_000277.3(PAH):c.434A>T (p.Asp145Val)	rs140175796	0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)	rs201727231	0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter)	rs377708973	0.00009
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)	rs375032130	0.00009
NM_019594.4(LRRC8A):c.2113G>A (p.Gly705Ser)	rs766749712	0.00009
NM_030665.4(RAI1):c.5366G>A (p.Arg1789Gln)	rs368587743	0.00009
NM_170606.3(KMT2C):c.6910A>G (p.Met2304Val)	rs754015217	0.00009
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln)	rs587782962	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_002474.3(MYH11):c.4579-6C>T	rs200223639	0.00008
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00008
NM_025009.5(CEP135):c.3320G>A (p.Arg1107Gln)	rs745603844	0.00008
NM_000138.5(FBN1):c.4582+3A>G	rs777845323	0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)	rs142745096	0.00007
NM_000431.4(MVK):c.346T>C (p.Tyr116His)	rs104895382	0.00007
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr)	rs763065439	0.00007
NM_001375524.1(TRRAP):c.4953+5C>T	rs368789902	0.00007
NM_001379451.1(BCORL1):c.472G>A (p.Gly158Arg)	rs376946512	0.00007
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro)	rs200499648	0.00007
NM_004736.4(XPR1):c.1975C>T (p.Arg659Trp)	rs200954931	0.00007
NM_005006.7(NDUFS1):c.1393-2A>C	rs370009373	0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	rs189150283	0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)	rs112626848	0.00007
NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=)	rs767539005	0.00006
NM_000163.5(GHR):c.1802_1803del (p.Val601fs)	rs777688795	0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)	rs201539845	0.00006
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu)	rs572292275	0.00006
NM_001042750.2(STAG2):c.1821+7T>C	rs768977301	0.00006
NM_001110792.2(MECP2):c.1292C>T (p.Pro431Leu)	rs376324027	0.00006
NM_001348768.2(HECW2):c.1240G>C (p.Asp414His)	rs764436402	0.00006
NM_001421.4(ELF4):c.560C>A (p.Thr187Asn)	rs137884184	0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)	rs104894205	0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs)	rs587776683	0.00006
NM_006516.4(SLC2A1):c.1108G>A (p.Val370Met)	rs751573593	0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)	rs121907987	0.00006
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His)	rs142096113	0.00006
NM_017934.7(PHIP):c.2667A>T (p.Lys889Asn)	rs756471447	0.00006
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn)	rs139165727	0.00006
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu)	rs886042478	0.00005
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)	rs201958741	0.00005
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)	rs748339634	0.00005
NM_001100913.3(PACS2):c.1049C>T (p.Pro350Leu)	rs782179266	0.00005
NM_001134665.3(TRMT10A):c.226C>T (p.Arg76Ter)	rs748994888	0.00005
NM_001170754.2(CIROZ):c.337C>T (p.Arg113Ter)	rs558323413	0.00005
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys)	rs372912168	0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His)	rs199960045	0.00005
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)	rs121964954	0.00005
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser)	rs141036010	0.00005
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	rs145034527	0.00005
NM_022081.6(HPS4):c.384+1G>A	rs201334605	0.00005
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)	rs759513934	0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln)	rs977717858	0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu)	rs139043155	0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	rs764262446	0.00004
NM_001037333.3(CYFIP2):c.3382C>T (p.Arg1128Trp)	rs376484231	0.00004
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn)	rs374145576	0.00004
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)	rs140539843	0.00004
NM_001170629.2(CHD8):c.6539G>A (p.Arg2180His)	rs778904376	0.00004
NM_001282531.3(ADNP):c.2968G>A (p.Glu990Lys)	rs531230573	0.00004
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn)	rs775884756	0.00004
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser)	rs1051952947	0.00004
NM_032608.7(MYO18B):c.2677G>T (p.Asp893Tyr)	rs372933587	0.00004
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)	rs768633670	0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)	rs59301204	0.00004
NM_172107.4(KCNQ2):c.1301+5C>T	rs200872349	0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000089.4(COL1A2):c.2799T>C (p.Asp933=)	rs751960243	0.00003
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)	rs386833679	0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu)	rs137854406	0.00003
NM_000719.7(CACNA1C):c.50-3C>T	rs780161540	0.00003
NM_001001548.3(CD36):c.443T>A (p.Ile148Asn)	rs573439520	0.00003
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)	rs137853859	0.00003
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)	rs201951824	0.00003
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)	rs28931569	0.00003
NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del)	rs1327484784	0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)	rs727503659	0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)	rs375657115	0.00003
NM_001278116.2(L1CAM):c.3322+11G>A	rs1372534909	0.00003
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)	rs1298422871	0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln)	rs779824005	0.00003
NM_004006.3(DMD):c.1812+1G>A	rs373286166	0.00003
NM_004807.3(HS6ST1):c.1194G>A (p.Val398=)	rs370255491	0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)	rs80356740	0.00003
NM_020247.5(COQ8A):c.812G>A (p.Arg271His)	rs765859566	0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter)	rs201193151	0.00003
NM_025233.7(COASY):c.778C>T (p.Pro260Ser)	rs756141692	0.00003
NM_033118.4(MYLK2):c.1702C>T (p.Arg568Cys)	rs772716379	0.00003
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro)	rs201088736	0.00003
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser)	rs782299720	0.00003
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=)	rs376643618	0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg)	rs1413737899	0.00002
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)	rs587780687	0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)	rs397516063	0.00002
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter)	rs782074040	0.00002
NM_001379451.1(BCORL1):c.4381A>G (p.Thr1461Ala)	rs1327701948	0.00002
NM_003126.4(SPTA1):c.4580C>G (p.Ser1527Cys)	rs746382885	0.00002
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg)	rs121434478	0.00002
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys)	rs774614339	0.00002
NM_004958.4(MTOR):c.5588C>T (p.Ser1863Leu)	rs189436499	0.00002
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)	rs1443751733	0.00002
NM_006766.5(KAT6A):c.2599C>T (p.Arg867Cys)	rs998720218	0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)	rs781254437	0.00002
NM_014727.3(KMT2B):c.6248C>T (p.Thr2083Met)	rs768089106	0.00002
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)	rs370551247	0.00002
NM_018489.3(ASH1L):c.5416C>G (p.Gln1806Glu)	rs753698911	0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)	rs119468004	0.00002
NM_022552.5(DNMT3A):c.1792C>T (p.Arg598Ter)	rs568207978	0.00002
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	rs1372719653	0.00002
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)	rs749464475	0.00002
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)	rs1442356585	0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	rs1085307405	0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile)	rs781404312	0.00001
NM_000094.4(COL7A1):c.2016G>C (p.Glu672Asp)	rs754341326	0.00001
NM_000110.4(DPYD):c.127_134del (p.Lys42_Arg43insTer)	rs1207177925	0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)	rs782198570	0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)	rs1249991480	0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	rs782449839	0.00001
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	rs777849213	0.00001
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)	rs80338755	0.00001
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)	rs747142039	0.00001
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter)	rs121912524	0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)	rs45516091	0.00001
NM_000277.3(PAH):c.938C>T (p.Ala313Val)	rs62642914	0.00001
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	rs760062120	0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)	rs1192702664	0.00001
NM_000527.4(LDLR):c.313+1G>A	rs112029328	0.00001
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)	rs72658864	0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)	rs118192158	0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	rs28934575	0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	rs730881151	0.00001
NM_001029896.2(WDR45):c.695G>A (p.Arg232His)	rs781978699	0.00001
NM_001042472.3(ABHD12):c.1075del (p.Val359fs)	rs757670984	0.00001
NM_001145026.2(PTPRQ):c.1363A>G (p.Ile455Val)	rs1894506287	0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr)	rs796053037	0.00001
NM_001170629.2(CHD8):c.4385G>A (p.Arg1462Gln)	rs745891727	0.00001
NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)	rs766944646	0.00001
NM_001182.5(ALDH7A1):c.467A>G (p.Tyr156Cys)	rs2112802725	0.00001
NM_001278064.2(GRM1):c.3300C>A (p.Ser1100Arg)	rs1227591846	0.00001
NM_001349206.2(LPIN1):c.1276C>T (p.Arg426Ter)	rs781748056	0.00001
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu)	rs878910680	0.00001
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)	rs1024254683	0.00001
NM_001381865.2(RCC1):c.1195C>T (p.Arg399Cys)	rs772549272	0.00001
NM_001381865.2(RCC1):c.238G>A (p.Val80Met)	rs1044572812	0.00001
NM_001394062.1(MACF1):c.21227C>T (p.Pro7076Leu)	rs368764004	0.00001
NM_001457.4(FLNB):c.3269A>G (p.Asn1090Ser)	rs755713308	0.00001
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)	rs606231459	0.00001
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	rs199839840	0.00001
NM_002474.3(MYH11):c.4365+9C>T	rs571613839	0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His)	rs794727993	0.00001
NM_004632.4(DAP3):c.1139T>G (p.Leu380Arg)	rs1660001313	0.00001
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)	rs386833920	0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs)	rs754121759	0.00001
NM_005148.4(UNC119):c.231C>T (p.Cys77=)	rs1037207765	0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met)	rs140236996	0.00001
NM_005529.7(HSPG2):c.8646G>T (p.Gln2882His)	rs548583670	0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His)	rs886042002	0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)	rs121434502	0.00001
NM_006438.5(COLEC10):c.25C>T (p.Arg9Ter)	rs149010496	0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr)	rs796053252	0.00001
NM_006766.5(KAT6A):c.661G>A (p.Glu221Lys)	rs774910975	0.00001
NM_007317.3(KIF22):c.496C>T (p.Arg166Trp)	rs767054899	0.00001
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser)	rs769177784	0.00001
NM_014363.6(SACS):c.3060A>G (p.Leu1020=)	rs746764976	0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)	rs1213203489	0.00001
NM_015386.3(COG4):c.2197C>T (p.Arg733Trp)	rs267606740	0.00001
NM_015559.3(SETBP1):c.3427T>C (p.Ser1143Pro)	rs762890510	0.00001
NM_015570.4(AUTS2):c.2890C>G (p.Pro964Ala)	rs772666638	0.00001
NM_015909.4(NBAS):c.5547del (p.Trp1850fs)	rs1478754689	0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs)	rs758529293	0.00001
NM_017755.6(NSUN2):c.1222C>T (p.Arg408Ter)	rs1221890051	0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009	0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)	rs199422194	0.00001
NM_018263.6(ASXL2):c.2190A>C (p.Glu730Asp)	rs1287433846	0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe)	rs121964927	0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg)	rs372577568	0.00001
NM_020699.4(GATAD2B):c.874A>G (p.Met292Val)	rs138922965	0.00001
NM_024989.4(PGAP1):c.691C>T (p.Arg231Ter)	rs1364192556	0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)	rs139430866	0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met)	rs763083098	0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)	rs769898852	0.00001
NM_032620.4(GTPBP3):c.17G>A (p.Trp6Ter)	rs756394857	0.00001
NM_033310.3(KCNK4):c.264G>A (p.Trp88Ter)	rs1197665953	0.00001
NM_054012.4(ASS1):c.206T>C (p.Val69Ala)	rs771594651	0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln)	rs775163147	0.00001
NM_054012.4(ASS1):c.970+5G>A	rs372128852	0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs)	rs779009256	0.00001
NM_134261.3(RORA):c.616G>A (p.Gly206Arg)	rs760939030	0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met)	rs137852946	0.00001
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser)	rs915805727	0.00001
NM_182931.3(KMT2E):c.2452C>T (p.Arg818Ter)	rs1584802744	0.00001
NM_206926.2(SELENON):c.770G>A (p.Arg257Gln)	rs199564797	0.00001
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1
GRCh37/hg19 13q21.2-21.31(chr13:61660181-63785757)x3
GRCh37/hg19 15q11.2(chr15:22770421-23277435)x1
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1
GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
GRCh37/hg19 16p11.2(chr16:29567296-30177807)x1
GRCh37/hg19 16p11.2(chr16:29580020-30191848)x3
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
GRCh37/hg19 17p13.3(chr17:525-632905)x3
GRCh37/hg19 17q12(chr17:34822465-36283612)x3
GRCh37/hg19 17q12(chr17:34822465-36410559)x3
GRCh37/hg19 22q11.21(chr22:20716876-21465662)x1
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1
GRCh37/hg19 22q11.22-11.23(chr22:22997802-23652512)x1
GRCh37/hg19 2q13(chr2:110504318-111365996)x1
GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
GRCh37/hg19 4q22.1(chr4:92491756-93233588)x3
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3
GRCh37/hg19 Xq21.31(chrX:87837389-88164567)x1
GRCh38/hg38 10q11.22(chr10:46489780-47923579)x3
GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
GRCh38/hg38 11q22.1(chr11:97849768-98439058)x1
GRCh38/hg38 12q24.33(chr12:129325762-129943507)x3
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3
GRCh38/hg38 15q13.1-13.2(chr15:28694893-30073921)x3
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
GRCh38/hg38 15q13.3(chr15:31806467-32134668)x3
GRCh38/hg38 15q26.3(chr15:101686039-101723215)x3
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3
GRCh38/hg38 17p13.2(chr17:3640170-3656795)x1
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3
GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 22q11.21(chr22:20400132-21086225)x1
GRCh38/hg38 22q11.21(chr22:20400132-21151128)x3
GRCh38/hg38 22q11.21(chr22:20726972-21151128)x3
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3
GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3
GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
GRCh38/hg38 2p25.3(chr2:30341-507042)x3
GRCh38/hg38 2p25.3(chr2:84669-206271)x1
GRCh38/hg38 2q13(chr2:110104900-110201550)x1
GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3
GRCh38/hg38 4q35.2(chr4:189111218-189975519)x1
GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x1
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3
GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3
GRCh38/hg38 8p23.1(chr8:7411297-8222398)x3
GRCh38/hg38 8q11.1(chr8:46031334-46662449)x1
GRCh38/hg38 8q11.1(chr8:46031334-46792065)x1
GRCh38/hg38 9p24.3(chr9:204193-295405)x3
GRCh38/hg38 9p24.3(chr9:204193-381489)x3
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1
GRCh38/hg38 Yq11.222(chrY:17251756-19149935)x2
NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)x3
NC_000015.9:g.68504037_68504039delGAT	rs121908080
NC_012920.1(MT-ATP6):m.9035T>C	rs1603222000
NC_012920.1(MT-CO3):m.9804G>A	rs200613617
NC_012920.1(MT-ND3):m.10197G>A	rs267606891
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)	rs387906472
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)	rs778993919
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)	rs587782847
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp)	rs868791726
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)	rs794727697
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)	rs72656394
NM_000101.4(CYBA):c.204-4C>A	rs377055239
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg)	rs1555399206
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg)	rs794728223
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys)	rs794728334
NM_000146.4(FTL):c.-168G>C	rs398124635
NM_000163.5(GHR):c.476T>A (p.Leu159Ter)	rs961681338
NM_000203.5(IDUA):c.1395del (p.Gly466fs)	rs1386109118
NM_000203.5(IDUA):c.164dup (p.Leu56fs)	rs727503966
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)	rs11466026
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)	rs730880816
NM_000260.4(MYO7A):c.1955G>A (p.Cys652Tyr)	rs1954474030
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	rs137853250
NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg)	rs2147184517
NM_000293.3(PHKB):c.1972-2A>G	rs964263812
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)	rs80338708
NM_000314.8(PTEN):c.198G>T (p.Lys66Asn)	rs2132232321
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)	rs866706988
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)	rs137852326
NM_000404.4(GLB1):c.921G>A (p.Met307Ile)	rs1575451599
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)	rs75068032
NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)	rs121912681
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000527.5(LDLR):c.1358+2T>A	rs193922567
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)	rs2228671
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	rs281865124
NM_000539.3(RHO):c.284T>C (p.Leu95Pro)	rs2084758666
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	rs1064794572
NM_000612.6(IGF2):c.106G>T (p.Glu36Ter)	rs2495590055
NM_000702.4(ATP1A2):c.2552A>G (p.Tyr851Cys)	rs2524889994
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val)	rs1889965563
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)	rs1057519004
NM_000944.5(PPP3CA):c.1366G>T (p.Glu456Ter)	rs1726803653
NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter)	rs1057519513
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)	rs587783595
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)	rs2111857835
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)	rs796053353
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg)	rs2147471872
NM_001034853.2(RPGR):c.2454del (p.Glu818_Val819insTer)	rs2519790827
NM_001040142.2(SCN2A):c.2548C>T (p.Arg850Ter)	rs1553578503
NM_001042492.3(NF1):c.6820-3A>G	rs2508762315
NM_001042492.3(NF1):c.7971-321C>G	rs2070316606
NM_001042750.2(STAG2):c.1196+4_1196+7del	rs2058033367
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)	rs1057521250
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)	rs2125194268
NM_001082971.2(DDC):c.1055del (p.Pro352fs)	rs2042497215
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)	rs886039472
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)	rs61748420
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)	rs987032967
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp)	rs2074117985
NM_001114753.3(ENG):c.219+5G>C	rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	rs755348996
NM_001128840.3(CACNA1D):c.1955C>T (p.Ser652Leu)	rs777591848
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])	rs587784440
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs)	rs781020381
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)	rs1555488119
NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly)	rs2141396034
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)	rs753223319
NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter)	rs121917961
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp)	rs756519197
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)	rs1247886882
NM_001197104.2(KMT2A):c.6571C>T (p.Arg2191Ter)	rs200497972
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)	rs753324947
NM_001256012.3(MYH10):c.4884+1G>A	rs2151813002
NM_001256627.2(BRSK2):c.1737dup (p.Pro580fs)	rs2539768600
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)	rs573843615
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)	rs397516459
NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter)	rs2147031368
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg)	rs1802026476
NM_001330288.2(SMARCC2):c.1353C>T (p.Asn451=)	rs965519704
NM_001347721.2(DYRK1A):c.638-9_638-5del	rs1555984064
NM_001348768.2(HECW2):c.2499G>A (p.Thr833=)	rs369287403
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val)	rs1064795382
NM_001352027.3(PHF21A):c.1889A>G (p.Asp630Gly)	rs1590864380
NM_001363711.2(DUOX2):c.3423_3424del (p.His1141fs)	rs1009807148
NM_001369268.1(ACAN):c.776_777del (p.Thr259fs)
NM_001370100.5(ZMYND11):c.106C>T (p.Arg36Cys)	rs2538907768
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)	rs749294057
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu)	rs765365713
NM_001374828.1(ARID1B):c.2581+5G>A	rs1554298239
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)	rs797045277
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	rs779003155
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)	rs794727634
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del)	rs606231461
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	rs62625014
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup)	rs776051221
NM_001385.3(DPYS):c.1506del (p.Arg503fs)	rs79080341
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)	rs886039347
NM_001414.4(EIF2B1):c.860A>G (p.Asp287Gly)	rs2135758861
NM_001429.3(EP300):c.3857A>G	rs1555910821
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	rs587778256
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)	rs80356504
NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)	rs2512719998
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile)	rs281875325
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	rs2498893389
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)	rs879255584
NM_001844.5(COL2A1):c.1546G>A (p.Gly516Ser)	rs886041895
NM_001844.5(COL2A1):c.2887G>A (p.Gly963Ser)	rs1215825701
NM_001844.5(COL2A1):c.4007G>A (p.Trp1336Ter)
NM_001940.4(ATN1):c.1464GCA[11] (p.Gln499_Gln502del)	rs60216939
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)	rs1303447354
NM_002063.4(GLRA2):c.862G>A (p.Ala288Thr)	rs2090371373
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu)	rs1057519742
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser)	rs1646670170
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp)	rs1646670079
NM_002485.5(NBN):c.156_157del (p.Ser53fs)	rs767454740
NM_002576.5(PAK1):c.1427T>C (p.Ile476Thr)	rs1591695781
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser)	rs2113894766
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	rs121918049
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	rs397507507
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_003031.4(SIAH1):c.529G>C (p.Asp177His)	rs2544513815
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)	rs1574907198
NM_003070.5(SMARCA2):c.4575AGA[1] (p.Glu1527del)	rs754943076
NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)	rs2539487706
NM_003193.5(TBCE):c.636_639del (p.Asn212fs)	rs1226347591
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)	rs950721550
NM_003620.4(PPM1D):c.1599C>G (p.Asn533Lys)	rs996571214
NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)	rs863225003
NM_004183.4(BEST1):c.1100+1G>C	rs1434513582
NM_004247.4(EFTUD2):c.1060C>T (p.Arg354Ter)	rs996949678
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	rs397507473
NM_004544.4(NDUFA10):c.76-2A>G	rs917371150
NM_004656.4(BAP1):c.271T>C (p.Cys91Arg)	rs1705222655
NM_004974.4(KCNA2):c.925A>G (p.Arg309Gly)	rs2101398407
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)	rs2147805923
NM_005121.3(MED13):c.3665G>A (p.Arg1222His)	rs199889415
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)	rs121909616
NM_005151.4(USP14):c.233_236del (p.Leu78fs)	rs2144233064
NM_005618.4(DLL1):c.845dup (p.Leu283fs)	rs760008381
NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)	rs1553356111
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg)	rs2149941608
NM_005862.3(STAG1):c.1117C>T (p.Arg373Ter)	rs2107814279
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)	rs74315205
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del)	rs752461187
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)	rs207482230
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter)	rs747485179
NM_006218.4(PIK3CA):c.3143A>G (p.His1048Arg)	rs1553826184
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)	rs863225082
NM_006421.5(ARFGEF1):c.4126_4127del (p.Arg1376fs)
NM_006494.4(ERF):c.248G>A (p.Arg83Gln)	rs758855122
NM_006494.4(ERF):c.891_892del (p.Gly299fs)	rs587777007
NM_006618.5(KDM5B):c.775C>T (p.Arg259Ter)	rs776299767
NM_006766.5(KAT6A):c.3353-1G>A	rs1351334408
NM_006929.5(SKIC2):c.2442G>C (p.Trp814Cys)	rs148221996
NM_007059.4(KPTN):c.184dup (p.Ile62fs)	rs1243527780
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)	rs752676391
NM_007289.4(MME):c.467del (p.Pro156fs)	rs749320057
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	rs730881020
NM_012079.6(DGAT1):c.629_631del (p.Ser210del)	rs782577883
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del)	rs1553154062
NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup)	rs537998274
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	rs2033535934
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)	rs2546823502
NM_014023.4(WDR37):c.1103+10G>A	rs377333387
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro)	rs2089686081
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_014264.5(PLK4):c.1442G>T (p.Gly481Val)	rs1409755064
NM_014444.5(TUBGCP4):c.223C>T (p.Gln75Ter)	rs2142767103
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)	rs1673582111
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)	rs1057518170
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)	rs879255404
NM_015202.5(KATNIP):c.27dup (p.Glu10fs)	rs1283389193
NM_015443.4(KANSL1):c.2284C>T (p.Arg762Ter)	rs2146363405
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)	rs1178702025
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])	rs1789934246
NM_015631.6(TCTN3):c.770G>A (p.Arg257His)	rs758733887
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)	rs2123136215
NM_016373.4(WWOX):c.107+1G>A	rs1300924648
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)	rs587777127
NM_016532.4(INPP5K):c.881_883del (p.Ser294del)	rs765015650
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)	rs146664036
NM_017646.6(TRIT1):c.334del (p.Arg112fs)	rs536000212
NM_017934.7(PHIP):c.919_923del (p.Ile307fs)	rs771126523
NM_018105.3(THAP1):c.270_273del	rs749414480
NM_018116.4(MSTO1):c.220+5G>C	rs1187504822
NM_019032.6(ADAMTSL4):c.1143del (p.Glu382fs)	rs1461665171
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)	rs1674480467
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter)	rs1347078601
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp)	rs752514808
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	rs74799832
NM_020987.5(ANK3):c.2502G>A (p.Met834Ile)	rs2132296500
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys)	rs398124380
NM_022841.7(RFX7):c.3082C>T (p.Pro1028Ser)	rs2504987146
NM_023110.3(FGFR1):c.1864C>T (p.Arg622Ter)	rs121909628
NM_024496.4(IRF2BPL):c.491_492insCGCCGC (p.Ala164_Val165insAlaAla)	rs780441372
NM_024721.5(ZFHX4):c.5005G>T (p.Glu1669Ter)
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)	rs1342402816
NM_024876.4(COQ8B):c.1339dup (p.Glu447fs)	rs759968901
NM_024899.4(CEP76):c.1531T>A (p.Phe511Ile)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs)	rs768112611
NM_030665.4(RAI1):c.176A>G (p.Tyr59Cys)	rs1240460489
NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg)	rs2132929609
NM_031418.4(ANO3):c.2267T>C (p.Leu756Ser)	rs1554983824
NM_032108.4(SEMA6B):c.1966G>T (p.Glu656Ter)	rs747115338
NM_032271.3(TRAF7):c.1873C>G (p.Leu625Val)	rs2141298772
NM_032620.4(GTPBP3):c.509_510del (p.Glu170fs)	rs1414881768
NM_033380.3(COL4A5):c.1032+3_1032+6del	rs104886314
NM_033629.6(TREX1):c.150_151del (p.Gln51fs)	rs770607110
NM_052867.4(NALCN):c.1894C>T (p.Arg632Ter)	rs541633673
NM_052867.4(NALCN):c.4004G>A (p.Ser1335Asn)	rs2139471533
NM_053274.3(GLMN):c.971dup (p.Leu324fs)	rs2100916637
NM_130797.4(DPP6):c.157_184del (p.Pro53fs)	rs2129062565
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_138576.4(BCL11B):c.2346_2361del (p.Gly783fs)	rs2139753299
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)	rs886039773
NM_139058.3(ARX):c.30C>A (p.Cys10Ter)	rs794726959
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)	rs1268774120
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg)	rs2081548277
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter)	rs763743788
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)	rs587778771
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)	rs1554612377
NM_145698.5(ACBD5):c.1467G>A (p.Trp489Ter)	rs1564574359
NM_170606.3(KMT2C):c.9109_9111del (p.Leu3037del)	rs772433974
NM_173660.5(DOK7):c.1378dup (p.Gln460fs)	rs606231133
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)	rs869312840
NM_181458.4(PAX3):c.873dup (p.Gly292fs)	rs1553572976
NM_182931.3(KMT2E):c.1130+2T>C	rs1554394210
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)	rs1562927768
NM_182931.3(KMT2E):c.280del (p.Thr94fs)	rs1584746915
NM_182931.3(KMT2E):c.3198del (p.Trp1067fs)	rs1584805745
NM_182931.3(KMT2E):c.556+1G>A	rs1584761229
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)	rs794727577
NM_182978.4(GNAL):c.964C>T (p.Arg322Ter)	rs1252185897
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.