· Web viewTable S1. Recessive diseases/genes included in NGS-based carrier screening (548 genes;...
Transcript of · Web viewTable S1. Recessive diseases/genes included in NGS-based carrier screening (548 genes;...
Table S1.
Recessive diseases/genes included in NGS-based carrier screening (548 genes; 623 disease)OMIM# Disease Gene Manifestation
categories
102700Severe combined immunodeficiency due to ADA deficiency
ADA Immunology; Oncologic
124000 Mitochondrial complex III deficiency, nuclear type 1 BCS1L
Otolaryngologic; Biochemical; Dermatologic; Gastrointestinal; Genitourinary; Neurologic; Ophthalmologic; Renal
133540 Cockayne syndrome, type B ERCC6
Otolaryngologic; Craniofacial; Dermatologic; Musculoskeletal; Neurologic; Ophthalmologic
145900 Dejerine-Sottas disease MPZ Neurologic145900 Dejerine-Sottas disease PRX Neurologic
148820 Waardenburg syndrome, type 3 PAX3
Otolaryngologic; Craniofacial; Dermatologic; Musculoskeletal; Ophthalmologic
180105 Retinitis pigmentosa 10 IMPDH1 Ophthalmologic
182230 Septooptic dysplasia HESX1Endocrine; Neurologic; Ophthalmologic
188055 Thrombophilia due to activated protein C resistance F5 Hematologic
200100 Abetalipoproteinemia MTTP
Gastrointestinal; Hematologic; Neurologic; Ophthalmologic
200150 Choreoacanthocytosis VPS13AHematologic; Musculoskeletal; Neurologic
200990 Acrocallosal syndrome KIF7
Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic; Renal; Ophthalmologic
201000 Carpenter syndrome RAB23 Otolaryngologic;
1
1
Cardiovascular; Craniofacial; Dental; Endocrine; Genitourinary; Musculoskeletal; Neurologic
201450 Acyl-CoA dehydrogenase, medium chain, deficiency of ACADM
Biochemical; Musculoskeletal; Neurologic
201470 Acyl-CoA dehydrogenase, short-chain, deficiency of ACADS Biochemical;Musculo
skeletal; Neurologic
201475 VLCAD deficiency ACADVL
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic; Renal
201710 Lipoid adrenal hyperplasia STAREndocrine; Genitourinary; Oncologic
201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency CYP21A2
Cardiovascular; Endocrine; Genitourinary; Oncologic
202370 Peroxisome biogenesis disorder 2B PEX5
Biochemical; Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Renal
202400 Afibrinogenemia, congenita FGA Hematologic202400 Afibrinogenemia, congenital FGB Hematologic
203100 Albinism, oculocutaneous, type IA TYR Dermatologic;
Ophthalmologic
203200 Albinism, oculocutaneous, type II OCA2 Dermatologic; Ophthalmologic
203290 Albinism, oculocutaneous, type III TYRP1 Dermatologic;
Ophthalmologic
203300 Hermansky-Pudlak syndrome 1 HPS1
Immunology; Dermatologic; Gastrointestinal; Hematologic; Ophthalmologic; Pulmonary
203500 Alkaptonuria HGD
Biochemical; Cardiovascular; Musculoskeletal; Renal
203700 Mitochondrial DNA depletion syndrome 4A (Alpers type) POLG
Gastrointestinal; Musculoskeletal; Neurologic
2
203750 Alpha-methylacetoacetic aciduria ACAT1 Biochemical; Neurologic
203780 Alport syndrome, autosomal recessive COL4A3
Otolaryngologic; Ophthalmologic; Renal
203780 Alport syndrome, autosomal recessive COL4A4
Otolaryngologic; Ophthalmologic; Renal
203800 Alstrom syndrome ALMS1
Otolaryngologic; Cardiovascular; Endocrine; Gastrointestinal; Ophthalmologic; Renal
204000 Leber congenital amaurosis 1 GUCY2D Ophthalmologic204100 Leber congenital amaurosis 2 RPE65 Ophthalmologic
204200 Ceroid lipofuscinosis, neuronal, 3 CLN3Biochemical; Neurologic; Ophthalmologic
204300 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset CLN6
Biochemical; Neurologic; Ophthalmologic
204500 Ceroid lipofuscinosis, neuronal, 2 TPP1 Neurologic; Ophthalmologic
206700 Gillespie syndrome PAX6 Neurologic; Ophthalmologic
207800 Argininemia ARG1 Biochemical; Neurologic
207900 Argininosuccinic aciduria ASLBiochemical; Dermatologic; Neurologic
208000 Arterial calcification, generalized, of infancy, 1 ENPP1
Cardiovascular; Dermatologic; Musculoskeletal
208085 Arthrogryposis, renal dysfunction, and cholestasis 1 VPS33B N/A
208150 Fetal akinesia deformation sequence RAPSN Musculoskeletal;
Neurologic
208400 Aspartylglucosaminuria AGA
Immunology; Biochemical; Cardiovascular; Craniofacial; Dermatologic; Musculoskeletal; Neurologic
208540 Renal-hepatic-pancreatic dysplasia 1 NPHP3 Gastrointestinal;
Renal
208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
APTX Gastrointestinal; Neurologic
3
210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1 Biochemical;
Neurologic
210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2 Biochemical;
Neurologic
210370 Bietti crystalline corneoretinal dystrophy CYP4V2 Ophthalmologic
210600 Seckel syndrome 1 ATR
Craniofacial; Dental; Dermatologic; Musculoskeletal; Neurologic
212065 Congenital disorder of glycosylation, type Ia PMM2
Biochemical; Cardiovascular; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic; Renal
212066 Congenital disorder of glycosylation, type IIa MGAT2
Otolaryngologic; Biochemical; Craniofacial; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic
212550 Microphthalmia with cataract 2 SIX6 Ophthalmologic
212720 Martsolf syndrome RAB3GAP2
Cardiovascular; Craniofacial; Endocrine; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic
213300 Joubert syndrome 1 INPP5E
Genitourinary; Neurologic; Ophthalmologic; Renal
214100 Peroxisome biogenesis disorder 1A (Zellweger) PEX1
Biochemical; Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Renal
214150 Cerebrooculofacioskeletal syndrome 1 ERCC6
Otolaryngologic; Craniofacial; Dermatologic; Musculoskeletal; Neurologic; Ophthalmologic
214450 Griscelli syndrome, type 1 MYO5A Dermatologic;
4
Neurologic
214950 Bile acid synthesis defect, congenital, 4 AMACR Biochemical;
Gastrointestinal
215100 Rhizomelic chondrodysplasia punctata, type 1 PEX7
Otolaryngologic; Craniofacial; Dermatologic; Musculoskeletal; Neurologic; Ophthalmologic
215140 Greenberg skeletal dysplasia LBRCraniofacial; Hematologic; Musculoskeletal
215150 Otospondylomegaepiphyseal dysplasia COL2A1
Otolaryngologic; Craniofacial; Musculoskeletal
215700 Citrullinemia ASS1Biochemical; Gastrointestinal; Neurologic
216340 Yunis-Varon syndrome FIG4 Neurologic
216360 COACH syndrome CC2D2A
Gastrointestinal; Genitourinary; Neurologic; Ophthalmologic; Pulmonary; Renal
216360 COACH syndrome TMEM67Gastrointestinal; Neurologic; Renal; Ophthalmologic
216400 Cockayne syndrome, type A ERCC8Dermatologic; Musculoskeletal; Neurologic
217090 Plasminogen deficiency, type I PLG
Dermatologic; Gastrointestinal; Hematologic; Neurologic; Ophthalmologic; Pulmonary
217700 Corneal endothelial dystrophy 2, autosomal recessive SLC4A11 Ophthalmologic
217800 Macular corneal dystrophy CHST6 Ophthalmologic
218000 Agenesis of the corpus callosum with peripheral neuropathy SLC12A6
Craniofacial; Musculoskeletal; Neurologic
218800 Crigler-Najjar syndrome, type I UGT1A1 Gastrointestinal
219000 Fraser syndrome FRAS1
Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic; Renal
5
219000 Fraser syndrome FREM2
Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic; Renal
219700 Cystic fibrosis CFTRGastrointestinal; Genitourinary; Pulmonary
219800 Cystinosis, nephropathic CTNS
Biochemical; Endocrine; Musculoskeletal; Ophthalmologic; Renal
220111 Leigh syndrome, French-Canadian type LRPPRC
Biochemical; Craniofacial; Musculoskeletal; Neurologic
220290 Deafness, autosomal recessive 1A GJB2 Otolaryngologic
220290
Deafness, autosomal recessive 1A;;Deafness, digenic GJB2/GJB6;;Deafness, digenic, GJB2/GJB3
GJB3Otolaryngologic; Dermatologic; Neurologic
221750 Pituitary hormone deficiency, combined, 3 LHX3
Otolaryngologic; Endocrine; Musculoskeletal; Neurologic
222300 Wolfram syndrome WFS1
Otolaryngologic; Endocrine; Neurologic; Ophthalmologic; Renal
222448 Donnai-Barrow syndrome LRP2
Otolaryngologic; Craniofacial; Musculoskeletal; Ophthalmologic; Renal
222600 Diastrophic dysplasia SLC26A2 Craniofacial; Musculoskeletal
223900 Dysautonomia, familial IKBKAP Craniofacial; Neurologic; Renal
224050Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1
VLDLR Neurologic
224230 Dyskeratosis congenita, autosomal recessive 1
NOP10 Immunology; Dental; Dermatologic; Endocrine; Gastrointestinal; Hematologic;
6
Neurologic; Oncologic; Pulmonary
225280Ectodermal dysplasia, ectrodactyly, and macular dystrophy
CDH3Dermatologic; Musculoskeletal; Ophthalmologic
225320 Ehlers-Danlos syndrome, cardiac valvular form COL1A2
Cardiovascular; Dermatologic; Musculoskeletal
225400 Ehlers-Danlos syndrome, type VI PLOD1
Cardiovascular; Dermatologic; Musculoskeletal; Ophthalmologic; Renal
225410 Ehlers-Danlos syndrome, type VIIC ADAMTS2
Craniofacial; Dermatologic; Musculoskeletal; Obstetric
225750 Aicardi-Goutieres syndrome 1, dominant and recessive TREX1
Dermatologic; Gastrointestinal; Hematologic; Neurologic; Ophthalmologic
226600 Epidermolysis bullosa dystrophica, AR COL7A1 Dermatologic
226650 Epidermolysis bullosa, junctional, non-Herlitz type COL17A1 Dermatologic
226700 Epidermolysis bullosa, junctional, Herlitz type LAMB3 Dermatologic
226700 Epidermolysis bullosa, junctional, Herlitz type LAMC2 Dermatologic
226700 Epidermolysis bullosa, junctional, Herlitz type LAMA3 Otolaryngologic;
Dental; Dermatologic
226730 Epidermolysis bullosa, junctional, with pyloric atresia ITGA6 Dermatologic;
Gastrointestinal
226730 Epidermolysis bullosa, junctional, with pyloric atresia ITGB4
Dermatologic; Gastrointestinal; Renal
226980 Wolcott-Rallison syndrome EIF2AK3
Cardiovascular; Dental; Dermatologic; Endocrine; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Renal
227400 Factor V deficiency F5 Hematologic227645 Fanconi anemia, complementation
group CFANCC Otolaryngologic;
Immunology; Dermatologic; Gastrointestinal; Hematologic;
7
Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
227646 Fanconi anemia, complementation group D2 FANCD2
Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
227650 Fanconi anemia, complementation group A FANCA
Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
228520 Fibrochondrogenesis COL11A1
Otolaryngologic; Craniofacial; Musculoskeletal; Ophthalmologic
228930 Fuhrmann syndrome WNT7A Dermatologic; Musculoskeletal
229200 Brittle cornea syndrome 1 ZNF469 Musculoskeletal; Ophthalmologic
229300 Friedreich ataxia FXN
Cardiovascular; Endocrine; Musculoskeletal; Neurologic; Ophthalmologic
229600 Fructose intolerance ALDOBBiochemical; Gastrointestinal; Neurologic; Renal
230000 Fucosidosis FUCA1
Biochemical; Dermatologic; Musculoskeletal; Neurologic
230400 Galactosemia GALT Biochemical; Endocrine; Gastrointestinal; Hematologic; Neurologic; Obstetric;
8
Ophthalmologic; Renal
230500 GM1-gangliosidosis, type I GLB1
Biochemical; Cardiovascular; Craniofacial; Dermatologic; Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic
230800 Gaucher disease, type I GBA
Biochemical; Cardiovascular; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic
231050 Geleophysic dysplasia 1 ADAMTSL2
Biochemical; Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal
231670 Glutaricaciduria, type I GCDHBiochemical; Cardiovascular; Neurologic
231680 Glutaric acidemia II ETFA
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic; Renal
231680 Glutaric acidemia II ETFB
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic; Renal
231680 Glutaric acidemia II ETFDH
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic; Renal
232200 Glycogen storage disease Ia G6PC
Biochemical; Cardiovascular; Gastrointestinal; Hematologic; Musculoskeletal; Oncologic; Renal
232220 Glycogen storage disease Ib SLC37A4Biochemical; Gastrointestinal; Renal
232300 Glycogen storage disease II GAA Biochemical; Cardiovascular; Musculoskeletal; Neurologic;
9
Pulmonary
232400 Glycogen storage disease III AGL
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic
232500 Glycogen storage disease IV GBE1
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic
232600 McArdle disease PYGMBiochemical; Musculoskeletal; Renal
233650 Combined cellular and humoral immune defects with granulomas RAG1
Immunology; Dermatologic; Gastrointestinal
233650 Combined cellular and humoral immune defects with granulomas RAG2
Immunology; Dermatologic; Gastrointestinal
234200 Neurodegeneration with brain iron accumulation 1 PANK2
Gastrointestinal; Neurologic; Ophthalmologic
235200 Hemochromatosis HFECardiovascular; Endocrine; Gastrointestinal
235800 Histidinemia HAL Biochemical
236200 Thrombosis, hyperhomocysteinemic CBS
Biochemical; Cardiovascular; Dermatologic; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic
236250 Homocystinuria due to MTHFR deficiency MTHFR Neurologic
236670
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
POMT1Musculoskeletal; Neurologic; Ophthalmologic
236680 Hydrolethalus syndrome HYLS1
Cardiovascular; Craniofacial; Genitourinary; Musculoskeletal; Neurologic; Pulmonary
236700 McKusick-Kaufman syndrome MKKS Cardiovascular; Gastrointestinal; Genitourinary; Musculoskeletal;
10
Neurologic; Renal
237300 Carbamoylphosphate synthetase I deficiency CPS1 Biochemical;
Neurologic
237310 N-acetylglutamate synthase deficiency NAGS Biochemical;
Neurologic
238970Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A15Biochemical; Gastrointestinal; Neurologic
239500 Hyperprolinemia, type I PRODH Biochemical; Neurologic
239510 Hyperprolinemia, type II ALDH4A1 Biochemical; Neurologic
241200 Bartter syndrome, type 2 KCNJ1 Renal
241410 Hypoparathyroidism-retardation-dysmorphism syndrome TBCE
Endocrine; Musculoskeletal; Neurologic
241510 Hypophosphatasia, childhood ALPLDental; Endocrine; Musculoskeletal; Neurologic
241520 Hypophosphatemic rickets, AR DMP1 Endocrine
243500 Isovaleric acidemia IVDBiochemical; Cardiovascular; Neurologic
243800 Johanson-Blizzard syndrome UBR1
Otolaryngologic; Craniofacial; Dental; Dermatologic; Cardiovascular; Endocrine; Gastrointestinal; Hematologic; Neurologic; Ophthalmologic
245200 Krabbe disease GALC Biochemical; Neurologic
245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)
SUCLG1Biochemical; Musculoskeletal; Neurologic
246200 Leprechaunism INSR
Immunology; Craniofacial; Dermatologic; Endocrine; Musculoskeletal; Oncologic; Renal
246450 HMG-CoA lyase deficiency HMGCL Biochemical; Neurologic
246900 Dihydrolipoamide dehydrogenase deficiency DLD Biochemical;
Neurologic
248190 Hypomagnesemia 5, renal, with ocular involvement CLDN19 Ophthalmologic;
Renal248200 Stargardt disease 1 ABCA4 Ophthalmologic
11
248200 Stargardt disease 1 CNGB3 Ophthalmologic
248360 Malonyl-CoA decarboxylase deficiency MLYCD
Biochemical; Cardiovascular; Neurologic
248370 Mandibuloacral dysplasia LMNA
Otolaryngologic; Craniofacial; Dermatologic; Endocrine; Musculoskeletal
248500 Mannosidosis, alpha-, types I and II MAN2B1
Immunology; Otolaryngologic; Biochemical; Musculoskeletal; Neurologic; Ophthalmologic
248600 Maple syrup urine disease BCKDHA Biochemical; Neurologic
248600 Maple syrup urine disease BCKDHB Biochemical; Neurologic
248600 Maple syrup urine disease DBT Biochemical; Neurologic
248800 Marinesco-Sjogren syndrome SIL1
Endocrine; Musculoskeletal; Neurologic; Ophthalmologic
249000 Meckel syndrome 1 MKS1
Cardiovascular; Craniofacial; Endocrine; Gastrointestinal; Genitourinary; Neurologic; Musculoskeletal; Ophthalmologic; Renal
249100 Familial Mediterranean fever, AR MEFVDermatologic; Musculoskeletal; Renal
249900 Metachromatic leukodystrophy due to SAP-b deficiency PSAP Musculoskeletal;
Neurologic
250100 Metachromatic leukodystrophy ARSA Biochemical; Neurologic
250620 3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH Biochemical;Neurolog
ic
250850 Methionine adenosyltransferase deficiency, autosomal recessive MAT1A Biochemical;
Neurologic
250950 3-methylglutaconic aciduria, type I AUH Biochemical;
Neurologic251000 Methylmalonic aciduria, mut(0)
typeMUT Biochemical;
Hematologic; Cardiovascular;
12
Neurologic; Ophthalmologic
251100 Methylmalonic aciduria, vitamin B12-responsive MMAA
Biochemical; Hematologic; Neurologic; Ophthalmologic
251110
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
MMAB
Biochemical; Hematologic; Neurologic; Ophthalmologic
251120 Methylmalonyl-CoA epimerase deficiency MCEE
Biochemical; Neurologic; Ophthalmologic
251200 Microcephaly 1, primary, autosomal recessive MCPH1 Neurologic
251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DGUOK
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic
252150 Molybdenum cofactor deficiency A MOCS1
Biochemical; Neurologic; Ophthalmologic
252160 Molybdenum cofactor deficiency B MOCS2 Biochemical;
Neurologic
252500 Mucolipidosis II alpha/beta GNPTAB
Biochemical; Cardiovascular; Musculoskeletal; Neurologic
252650 Mucolipidosis IV MCOLN1Biochemical; Neurologic; Ophthalmologic
252900 Mucopolysaccharidisis type IIIA (Sanfilippo A) SGSH Biochemical;
Neurologic
252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) HGSNAT
Otolaryngologic; Biochemical; Gastrointestinal; Neurologic; Ophthalmologic
252940 Mucopolysaccharidosis type IIID GNSBiochemical; Musculoskeletal; Neurologic
253010 Mucopolysaccharidosis type IVB (Morquio) GLB1
Biochemical; Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic
253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ARSB Biochemical; Cardiovascular;
13
Musculoskeletal; Ophthalmologic
253220 Mucopolysaccharidosis VII GUSB
Biochemical; Cardiovascular; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic
253250 Mulibrey nanism TRIM37
Cardiovascular; Craniofacial; Dermatologic; Endocrine; Gastrointestinal; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic
253260 Biotinidase deficiency BTD
Immunology; Biochemical; Dermatologic; Neurologic; Ophthalmologic
253280
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
POMGNT1
Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic
253300 Spinal muscular atrophy-1 SMN1 Musculoskeletal; Neurologic
253310 Lethal congenital contracture syndrome 1 GLE1
Craniofacial; Musculoskeletal; Neurologic
253600 Muscular dystrophy, limb-girdle, type 2A CAPN3 Musculoskeletal
253601 Muscular dystrophy, limb-girdle, type 2B DYSF Musculoskeletal
253700 Muscular dystrophy, limb-girdle, type 2C SGCG Musculoskeletal
253800
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
FKTN
Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic
254110 Muscular dystrophy, limb-girdle, type 2H TRIM32
Craniofacial; Musculoskeletal; Neurologic
254130 Miyoshi muscular dystrophy 1 DYSF Musculoskeletal
254800 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) CSTB Neurologic
255120 CPT deficiency, hepatic, type IA CPT1A Biochemical; Cardiovascular;
14
Gastrointestinal; Musculoskeletal; Neurologic; Renal
255125 Myopathy with lactic acidosis, hereditary ISCU
Cardiovascular; Musculoskeletal; Renal
255320 Minicore myopathy with external ophthalmoplegia RYR1 Musculoskeletal
255700 Myotonia congenita, recessive CLCN1 Musculoskeletal
255800 Schwartz-Jampel syndrome, type 1 HSPG2 Craniofacial;
Musculoskeletal
256030 Nemaline myopathy 2, autosomal recessive NEB Musculoskeletal
256050 Atelosteogenesis II SLC26A2 Craniofacial; Musculoskeletal
256300 Nephrotic syndrome, type 1 NPHS1 Renal256600 Infantile neuroaxonal dystrophy 1 PLA2G6 Neurologic
256730 Ceroid lipofuscinosis, neuronal, 1 PPT1Biochemical; Neurologic; Ophthalmologic
256731 Ceroid lipofuscinosis, neuronal, 5 CLN5Biochemical; Neurologic; Ophthalmologic
256800 Insensitivity to pain, congenital, with anhidrosis NTRK1 Immunology;
Neurologic
256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MPV17
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic; Oncologic
256850 Giant axonal neuropathy-1 GANDermatologic; Musculoskeletal; Neurologic
257200 Niemann-Pick disease, type A SMPD1
Gastrointestinal; Neurologic; Ophthalmologic; Pulmonary
257220 Niemann-Pick disease, type C1 NPC1
Biochemical; Gastrointestinal; Neurologic; Ophthalmologic
257270Night blindness, congenital stationary (complete), 1B, autosomal recessive
GRM6 Ophthalmologic
257320 Lissencephaly 2 (Norman-Roberts type) RELN Craniofacial;
Neurologic
257850 Oculodentodigital dysplasia, autosomal recessive GJA1
Craniofacial; Dental; Musculoskeletal; Ophthalmologic
15
257980 Odontoonychodermal dysplasia WNT10A Dental; Dermatologic258100 Oguchi disease-1 SAG Ophthalmologic
258501 3-methylglutaconic aciduria, type III OPA3
Biochemical; Neurologic; Ophthalmologic
258870Gyrate atrophy of choroid and retina with or without ornithinemia
OAT
Biochemical; Musculoskeletal; Neurologic; Ophthalmologic
259700 Osteopetrosis, autosomal recessive 1 TCIRG1
Otolaryngologic; Musculoskeletal; Ophthalmologic
259720 Osteopetrosis, autosomal recessive 5 OSTM1 Musculoskeletal
259730Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA2 Musculoskeletal; Neurologic; Renal
259770 Osteoporosis-pseudoglioma syndrome LRP5 Musculoskeletal;
Ophthalmologic
259775 Raine syndrome FAM20CCraniofacial; Dental; Musculoskeletal; Neurologic; Renal
259900 Hyperoxaluria, primary, type 1 AGXT Biochemical; Cardiovascular; Renal
260000 Hyperoxaluria, primary, type II GRHPR Biochemical; Renal
260370 Pancreatic agenesis 1 PDX1 Endocrine; Gastrointestinal
260400 Shwachman-Bodian-Diamond syndrome SBDS
Immunology; Gastrointestinal; Hematologic; Musculoskeletal; Oncologic
260920 Hyper-IgD syndrome MVK
Immunology; Dermatologic; Biochemical; Gastrointestinal
261515 D-bifunctional protein deficiency HSD17B4
Otolaryngologic; Biochemical; Endocrine; Genitourinary; Musculoskeletal; Neurologic; Obstetric
261600 Phenylketonuria PAHBiochemical; Dermatologic; Neurologic
262000 Bjornstad syndrome BCS1L
Otolaryngologic; Dermatologic; Genitourinary; Neurologic; Ophthalmologic
16
262190 Rabson-Mendenhall syndrome INSRCraniofacial; Dental; Dermatologic; Endocrine
262600 Pituitary hormone deficiency, combined, 2 PROP1 Endocrine
263200 Polycystic kidney and hepatic disease PKHD1
Immunology; Endocrine; Gastrointestinal; Renal
264350 Pseudohypoaldosteronism, type I SCNN1A Immunology; Pulmonary; Renal
264350 Pseudohypoaldosteronism, type I SCNN1B Immunology; Pulmonary; Renal
264350 Pseudohypoaldosteronism, type I SCNN1G Immunology; Pulmonary; Renal
264470 Peroxisomal acyl-CoA oxidase deficiency ACOX1
Otolaryngologic; Biochemical; Craniofacial; Neurologic; Ophthalmologic
265800 Pycnodysostosis CTSKBiochemical; Craniofacial; Musculoskeletal
266130 Glutathione synthetase deficiency GSS
Biochemical; Hematologic; Neurologic; Ophthalmologic
266150 Pyruvate carboxylase deficiency PC Biochemical; Neurologic
266200 Pyruvate kinase deficiency PKLR Hematologic
266265 Congenital disorder of glycosylation, type IIc SLC35C1
Immunology; Biochemical; Neurologic
266500 Refsum disease PHYH
Otolaryngologic; Biochemical; Cardiovascular; Dermatologic; Musculoskeletal; Neurologic; Ophthalmologic
266510 Peroxisome biogenesis disorder 3B PEX12
Biochemical; Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Renal
267430 Renal tubular dysgenesis ACE Renal267430 Renal tubular dysgenesis AGT Renal267430 Renal tubular dysgenesis AGTR1 Renal267430 Renal tubular dysgenesis REN Renal
17
267750 Knobloch syndrome, type 1 COL18A1
Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic
268100 Enhanced S-cone syndrome NR2E3 Ophthalmologic
268300 Roberts syndrome ESCO2
Cardiovascular; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic
268800 Sandhoff disease, infantile, juvenile, and adult forms HEXB
Biochemical; Neurologic; Ophthalmologic
269000 SC phocomelia syndrome ESCO2
Cardiovascular; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic
269250 Schneckenbecken dysplasia SLC35D1 Musculoskeletal
269700 Lipodystrophy, congenital generalized, type 2 BSCL2
Cardiovascular; Endocrine; Neurologic
269920 Sialic acid storage disorder, infantile SLC17A5
Biochemical; Cardiovascular; Gastrointestinal; Neurologic
270400 Smith-Lemli-Opitz syndrome DHCR7
Biochemical; Cardiovascular; Craniofacial; Endocrine; Genitourinary; Musculoskeletal; Neurologic; Renal
270550 Spastic ataxia, Charlevoix-Saguenay type SACS
Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic
270700 Spastic paraplegia 15, autosomal recessive ZFYVE26 Neurologic
271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) C10orf2
Otolaryngologic; Biochemical; Endocrine; Musculoskeletal; Neurologic
271900 Canavan disease ASPA Neurologic; Ophthalmologic
271930 Striatonigral degeneration, infantile NUP62 Neurologic
271980 Succinic semialdehyde dehydrogenase deficiency ALDH5A1 Biochemical;
Neurologic
18
272300 Sulfite oxidase deficiency SUOXBiochemical; Neurologic; Ophthalmologic
272430 Cold-induced sweating syndrome 1 CRLF1 Musculoskeletal;
Neurologic
272750 GM2-gangliosidosis, AB variant GM2ABiochemical; Neurologic; Ophthalmologic
272800 Tay-Sachs disease HEXABiochemical; Neurologic; Ophthalmologic
274270 Renal tubular dysgenesis DPYD General
275100 Hypothryoidism, congenital, nongoitrous 4 TSHB Endocrine
275200 Hypothyroidism, congenital, nongoitrous, 1 TSHR Endocrine
275210 Restrictive dermopathy, lethal ZMPSTE24 Dental; Dermatologic; Musculoskeletal
275900 Troyer syndrome SPG20 Musculoskeletal; Neurologic
276600 Tyrosinemia, type II TAT
Biochemical; Dermatologic; Neurologic; Ophthalmologic
276700 Tyrosinemia, type I FAH
Biochemical; Gastrointestinal; Musculoskeletal; Oncologic; Renal
276710 Tyrosinemia, type III HPD Biochemical; Neurologic
276820 Ulna and fibula, absence of, with severe limb deficiency WNT7A
Dermatologic; Genitourinary; Musculoskeletal
276900 Usher syndrome, type 1B MYO7A Otolaryngologic; Ophthalmologic
276901 Usher syndrome, type 2A USH2A Otolaryngologic; Ophthalmologic
276902 Usher syndrome, type 3A CLRN1 Otolaryngologic; Ophthalmologic
276904 Usher syndrome, type 1C USH1C Otolaryngologic; Ophthalmologic
277300 Spondylocostal dysostosis 1, autosomal recessive DLL3 Musculoskeletal
277400 Methylmalonic aciduria and homocystinuria, cblC type MMACHC
Biochemical; Cardiovascular; Dermatologic; Hematologic; Neurologic; Ophthalmologic; Renal
19
277410 Methylmalonic aciduria and homocystinuria, cblD type MMADHC
Biochemical; Hematologic; Neurologic; Ophthalmologic
277440 Rickets, vitamin D-resistant, type IIA VDR
Dermatologic; Endocrine; Musculoskeletal
277470 Pontocerebellar hypoplasia type 2A TSEN54 Neurologic
277580 Waardenburg syndrome, type 4A EDNRB
Otolaryngologic; Dermatologic; Gastrointestinal; Ophthalmologic
277900 Wilson disease ATP7B
Biochemical; Gastrointestinal; Neurologic; Ophthalmologic
278700 Xeroderma pigmentosum, group A XPA
Dermatologic; Neurologic; Oncologic
278730 Xeroderma pigmentosum, group D ERCC2
Dermatologic; Neurologic; Ophthalmologic
278740 Xeroderma pigmentosum, group E, DDB-negative subtype DDB2
Dermatologic; Oncologic; Ophthalmologic
278760 Xeroderma pigmentosum, group F ERCC4
Otolaryngologic; Craniofacial; Dermatologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic
278780 Xeroderma pigmentosum, group G ERCC5
Craniofacial; Dermatologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic
300029 Retinitis pigmentosa 3 RPGR Ophthalmologic
300055 Mental retardation, X-linked, syndromic 13 MECP2 Neurologic
300068 Androgen insensitivity AR Genitourinary; Oncologic
300200Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
NR0B1Endocrine; Genitourinary; Obstetric; Oncologic
300209 Simpson-Golabi-Behmel syndrome, type 2
OFD1 Craniofacial; Dermatologic; Genitourinary;
20
Musculoskeletal; Neurologic; Pulmonary; Renal
300299 Neutropenia, severe congenital, X-linked WAS
Immunology; Dermatologic; Hematologic
300322 Lesch-Nyhan syndrome HPRT1
Biochemical; Hematologic; Musculoskeletal; Neurologic; Renal
300323 HPRT-related gout HPRT1
Biochemical; Hematologic; Musculoskeletal; Neurologic; Renal
300352 Cerebral creatine deficiency syndrome 1 SLC6A8
Otolaryngologic; Biochemical; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic
300400 Severe combined immunodeficiency, X-linked IL2RG Immunology
300472Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia
IGBP1
Otolaryngologic; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic
300500 Ocular albinism, type I, Nettleship-Falls type GPR143 Ophthalmologic
300555 Dent disease 2 OCRLNeurologic; Ophthalmologic; Renal
300661 Phosphoribosylpyrophosphate synthetase superactivity PRPS1
Otolaryngologic; Biochemical; Neurologic; Renal
300673 Encephalopathy, neonatal severe MECP2 Neurologic
300696 Myopathy, X-linked, with postural muscle atrophy FHL1 Cardiovascular;
Musculoskeletal300751 Anemia, sideroblastic, X-linked ALAS2 Hematologic300755 Agammaglobulinemia, X-linked 1 BTK Immunology
300804 Joubert syndrome 10 OFD1
Craniofacial; Musculoskeletal; Neurologic; Pulmonary; Renal
300895 Ohdo syndrome, X-linked MED12
Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic
301000 Wiskott-Aldrich syndrome WAS Immunology; Dermatologic;
21
Hematologic
301310 Anemia, sideroblastic, with ataxia ABCB7 Hematologic; Neurologic
301830 Spinal muscular atrophy, X-linked 2, infantile UBA1 Musculoskeletal;
Neurologic
302950 Chondrodysplasia punctata, X-linked recessive ARSE
Craniofacial; Musculoskeletal; Neurologic
303350 MASA syndrome L1CAM Musculoskeletal; Neurologic
304400 Deafness, X-linked 2 POU3F4 Otolaryngologic304500 Deafness, X-linked 1 PRPS1 Otolaryngologic
304700 Mohr-Tranebjaerg syndrome TIMM8A
Otolaryngologic; Musculoskeletal; Neurologic; Ophthalmologic
305000 Dyskeratosis congenita, X-linked DKC1
Immunology; Dermatologic; Endocrine; Gastrointestinal; Hematologic; Neurologic; Oncologic; Pulmonary
305100 Ectodermal dysplasia 1, hypohidrotic, X-linked EDA
Immunology; Craniofacial; Dental; Dermatologic
305620 Frontometaphyseal dysplasia FLNA
Otolaryngologic; Cardiovascular; Craniofacial; Genitourinary; Musculoskeletal; Neurologic; Pulmonary; Renal
306700 Hemophilia A F8 Hematologic306900 Hemophilia B F9 Hematologic
307200 Agammaglobulinemia and isolated hormone deficiency BTK Immunology
308205 IFAP syndrome with or without BRESHECK syndrome MBTPS2
Craniofacial; Dermatologic; Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic; Renal
308230 Immunodeficiency, X-linked, with hyper-IgM CD40LG
Immunology; Hematologic; Oncologic
308240 Lymphoproliferative syndrome, X-linked, 1 SH2D1A
Immunology; Hematologic; Oncologic
22
308350 Epileptic encephalopathy, early infantile, 1 ARX Craniofacial;
Neurologic
309400 Menkes disease ATP7A
Cardiovascular; Dermatologic; Musculoskeletal; Neurologic
309520 Lujan-Fryns syndrome MED12Craniofacial; Musculoskeletal; Neurologic
309900 Mucopolysaccharidosis II IDS Biochemical; Cardiovascular
310200 Duchenne muscular dystrophy DMD
Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic
310300 Emery-Dreifuss muscular dystrophy 1, X-linked EMD Cardiovascular;
Musculoskeletal
310400 Myotubular myopathy, X-linked MTM1
Gastrointestinal; Hematologic; Musculoskeletal; Renal
310500Night blindness, congenital stationary (complete), 1A, X-linked
NYX Ophthalmologic
311070 Charcot-Marie-Tooth disease, X-linked recessive, 5 PRPS1 Otolaryngologic;
Neurologic
311250 Ornithine transcarbamylase deficiency OTC
Biochemical; Gastrointestinal; Neurologic
312080 Pelizaeus-Merzbacher disease PLP1 Neurologic; Ophthalmologic
312170 Pyruvate dehydrogenase E1-alpha deficiency PDHA1 Biochemical;
Neurologic312600 Retinitis pigmentosa 2 RP2 Ophthalmologic
312920 Spastic paraplegia 2, X-linked PLP1Musculoskeletal; Neurologic; Ophthalmologic
313900 Thrombocytopenia, X-linked WASImmunology; Dermatologic; Hematologic
314250 Dystonia-Parkinsonism, X-linked TAF1 Neurologic600060 Deafness, autosomal recessive 2 MYO7A Otolaryngologic
600105 Retinitis pigmentosa-12, autosomal recessive CRB1 Ophthalmologic
600118 Warburg micro syndrome 1 RAB3GAP1
Craniofacial; Endocrine; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic
23
600121 Rhizomelic chondrodysplasia punctata, type 3 AGPS
Biochemical; Musculoskeletal; Neurologic
600132 Retinitis pigmentosa 14 TULP1 Ophthalmologic
600142 CARASIL syndrome HTRA1Cardiovascular; Dermatologic; Neurologic
600143 Ceroid lipofuscinosis, neuronal, 8 CLN8Biochemical; Neurologic; Ophthalmologic
600316 Deafness, autosomal recessive 3 MYO15A Otolaryngologic
600501 ABCD syndrome EDNRB
Otolaryngologic; Dermatologic; Gastrointestinal; Ophthalmologic
600649 CPT deficiency, hepatic, type II CPT2
Biochemical; Cardiovascular; Gastrointestinal; Neurologic
600721 D-2-hydroxyglutaric aciduria D2HGDHBiochemical; Cardiovascular; Neurologic
600737 Inclusion body myopathy, autosomal recessive GNE Musculoskeletal;
Neurologic
600791 Deafness, autosomal recessive 4, with enlarged vestibular aqueduct SLC26A4 Otolaryngologic;
Endocrine
600802 SCID, autosomal recessive, T-negative/B-positive type JAK3 Immunology
600901 Fanconi anemia, complementation group E FANCE
Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
600971 Deafness, autosomal recessive 6 TMIE Otolaryngologic
600972 Achondrogenesis Ib SLC26A2 Craniofacial; Musculoskeletal
600974 Deafness, autosomal recessive 7 TMC1 Otolaryngologic
601067 Usher syndrome, type 1D CDH23 Otolaryngologic; Ophthalmologic
601071 Deafness, autosomal recessive 9 OTOF Otolaryngologic
601072 Deafness, autosomal recessive 8/10 TMPRSS3 Otolaryngologic
601186 Microphthalmia, syndromic 9 STRA6 Cardiovascular; Craniofacial; Gastrointestinal;
24
Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic; Pulmonary; Renal
601382 Charcot-Marie-Tooth disease, type 4B1 MTMR2 Neurologic
601386 Deafness, autosomal recessive 12 CDH23 Otolaryngologic
601455 Charcot-Marie-Tooth disease, type 4D NDRG1 Neurologic
601553 Hypotrichosis, congenital, with juvenile macular dystrophy CDH3 Dermatologic;
Ophthalmologic
601559Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
LIFR Musculoskeletal; Neurologic
601596 Charcot-Marie-Tooth disease, type 4C SH3TC2 Neurologic
601678 Bartter syndrome, type 1 SLC12A1 Renal
601705T-cell immunodeficiency, congenital alopecia, and nail dystrophy
FOXN1 Immunology; Dermatologic
601718 Retinitis pigmentosa 19 ABCA4 Ophthalmologic
601780 Ceroid lipofuscinosis, neuronal, 6 CLN6Biochemical; Neurologic; Ophthalmologic
601813 Exudative vitreoretinopathy 4 LRP5 Musculoskeletal; Ophthalmologic
601954 Muscular dystrophy, limb-girdle, type 2G TCAP Cardiovascular;
Musculoskeletal
602083 Usher syndrome, type 1F PCDH15 Otolaryngologic; Ophthalmologic
602450Severe combined immunodeficiency, Athabascan type
DCLRE1C Immunology
602473 Ethylmalonic encephalopathy ETHE1
Biochemical; Cardiovascular; Gastrointestinal; Neurologic
602522 Bartter syndrome, type 4a BSND Otolaryngologic; Renal
602579 Congenital disorder of glycosylation, type Ib MPI
Biochemical; Gastrointestinal; Hematologic
602771 Muscular dystrophy, rigid spine, 1 SEPN1 Musculoskeletal602772 Retinitis pigmentosa 25 EYS Ophthalmologic603147 Congenital disorder of
glycosylation, type IcALG6 Biochemical;
Endocrine; Gastrointestinal; Hematologic;
25
Neurologic; Ophthalmologic
603194 Meckel syndrome 2 TMEM216
Gastrointestinal; Musculoskeletal; Ophthalmologic; Renal
603278 Glomerulosclerosis, focal segmental, 1 ACTN4 Renal
603358 GRACILE syndrome BCS1L Biochemical; Gastrointestinal
603471 Citrullinemia, adult-onset type II SLC25A13
Biochemical; Gastrointestinal; Hematologic; Neurologic; Oncologic
603554 Omenn syndrome DCLRE1CImmunology; Dermatologic; Gastrointestinal
603554 Omenn syndrome RAG1Immunology; Dermatologic; Gastrointestinal
603585 Congenital disorder of glycosylation, type IIf SLC35A1
Immunology; Hematologic; Neurologic
603629 Deafness, autosomal recessive 21 TECTA Otolaryngologic603720 Deafness, autosomal recessive 16 STRC Otolaryngologic
603903 Sickle cell anemia HBB
Immunology; Cardiovascular; Hematologic; Neurologic; Pulmonary
604004Megalencephalic leukoencephalopathy with subcortical cysts
MLC1 Neurologic
604116 Cone-rod dystrophy 3 ABCA4 Ophthalmologic604129 Epidermolysis bullosa pruriginosa COL7A1 Dermatologic
604131 Thalassemia, alpha- HBA1;HBA2 Hematologic
604168 Congenital cataracts, facial dysmorphism, and neuropathy CTDP1
Cardiovascular; Endocrine; Musculoskeletal; Neurologic; Ophthalmologic; Renal
604250 Hemochromatosis, type 3 TFR2
Biochemical; Cardiovascular; Endocrine; Gastrointestinal; Hematologic
604286 Muscular dystrophy, limb-girdle, SGCB Cardiovascular;
26
type 2E Musculoskeletal
604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
WDR62 Neurologic
604320 Neuronopathy, distal hereditary motor, type VI IGHMBP2 Neurologic
604360 Spastic paraplegia 11, autosomal recessive SPG11 Neurologic
604369 Salla disease SLC17A5 Neurologic604393 Leber congenital amaurosis 4 AIPL1 Ophthalmologic
604563 Charcot-Marie-Tooth disease, type 4B2 SBF2
Otolaryngologic; Neurologic; Ophthalmologic
604804 Microcephaly 3, primary, autosomal recessive
CDK5RAP2
Otolaryngologic; Neurologic
605253 Neuropathy, congenital hypomyelinating EGR2 Neurologic
605355 Nemaline myopathy 5, Amish type TNNT1 Musculoskeletal
605407 Segawa syndrome, recessive TH Biochemical; Neurologic
605472 Usher syndrome, type 2C GPR98 Otolaryngologic; Ophthalmologic
605472
Usher syndrome, type 2C;;Usher syndrome, type 2C, GPR98/PDZD7 digenic;;Usher syndrome, type IIC, GPR98/PDZD7 digenic
PDZD7 Otolaryngologic; Ophthalmologic
605588 Charcot-Marie-Tooth disease, type 2B1 LMNA Musculoskeletal;
Neurologic
605589 Charcot-Marie-Tooth disease, type 2B2 MED25 Neurologic
605724 Fanconi anemia, complementation group D1 BRCA2
Hematologic; Oncologic; Ophthalmologic; Renal
605814 Citrullinemia, type II, neonatal-onset SLC25A13
Biochemical; Gastrointestinal; Hematologic
605899 Glycine encephalopathy AMTBiochemical; Neurologic; Ophthalmologic
605899 Glycine encephalopathy GCSHBiochemical; Neurologic; Ophthalmologic
605899 Glycine encephalopathy GLDCBiochemical; Neurologic; Ophthalmologic
606002 Ataxia-ocular apraxia-2 SETX Neurologic
27
606054 Propionicacidemia PCCA
Immunology; Biochemical; Cardiovascular; Hematologic; Neurologic
606054 Propionicacidemia PCCB
Immunology; Biochemical; Cardiovascular; Hematologic; Neurologic
606574 Albinism, oculocutaneous, type IV SLC45A2 Dermatologic;
Ophthalmologic
606593 LIG4 syndrome LIG4Immunology; Craniofacial; Neurologic
606612
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
FKRP Musculoskeletal; Neurologic
606812 Fumarase deficiency FHBiochemical; Dermatologic; Neurologic
606943 Usher syndrome, type 1G USH1G Otolaryngologic; Ophthalmologic
606996 Senior-Loken syndrome 4 NPHP4 Ophthalmologic; Renal
607039 Deafness, autosomal recessive 22 OTOA Otolaryngologic607084 Deafness, autosomal recessive 31 DFNB31 Otolaryngologic
607091 Congenital disorder of glycosylation, type IId B4GALT1
Biochemical; Hematologic; Musculoskeletal; Neurologic
607101 Deafness, autosomal recessive 30 MYO3A Otolaryngologic
607236 HARP syndrome PANK2Hematologic; Neurologic; Ophthalmologic
607259 Spastic paraplegia 7, autosomal recessive SPG7 Neurologic
607330 Lathosterolosis SC5DL
Biochemical; Craniofacial; Gastrointestinal; Musculoskeletal; Neurologic
607361 Meckel syndrome 3 TMEM67
Gastrointestinal; Neurologic; Musculoskeletal; Renal
607426 Coenzyme Q10 deficiency, primary, 1 COQ2
Biochemical; Musculoskeletal; Neurologic; Renal
28
607475 Bothnia retinal dystrophy RLBP1 Ophthalmologic
607616 Niemann-Pick disease, type B SMPD1
Gastrointestinal; Neurologic; Ophthalmologic; Pulmonary
607624 Griscelli syndrome, type 2 RAB27A
Immunology; Dermatologic; Hematologic; Neurologic; Oncologic
607625 Niemann-pick disease, type C2 NPC2Biochemical; Gastrointestinal; Neurologic
607706 Charcot-Marie-Tooth disease, axonal, with vocal cord paresis GDAP1 Neurologic
607734 Charcot-Marie-Tooth disease, type 1F NEFL Neurologic
607821 Deafness, autosomal recessive 37 MYO6 Otolaryngologic
607832 Glomerulosclerosis, focal segmental, 3 CD2AP Renal
607855 Muscular dystrophy, congenital merosin-deficient LAMA2 Musculoskeletal;
Neurologic
608013 Gaucher disease, perinatal lethal GBA
Biochemical; Cardiovascular; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic
608091 Joubert syndrome 2 TMEM216
Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic; Renal
608093 Congenital disorder of glycosylation, type Ij DPAGT1
Biochemical; Hematologic; Musculoskeletal; Neurologic; Ophthalmologic; Genitourinary
608099 Muscular dystrophy, limb-girdle, type 2D SGCA Cardiovascular;
Musculoskeletal608265 Deafness, autosomal recessive 39 HGF Otolaryngologic608380 Retinitis pigmentosa 26 CERKL Ophthalmologic
608393 Microcephaly 6, primary, autosomal recessive CENPJ
Craniofacial; Musculoskeletal; Neurologic
608540 Congenital disorder of glycosylation, type Ik
ALG1 Biochemical; Gastrointestinal; Hematologic;
29
Neurologic; Renal608553 Leber congenital amaurosis 9 NMNAT1 Ophthalmologic608565 Deafness, autosomal recessive 35 ESRRB Otolaryngologic
608612 Mandibuloacral dysplasia with type B lipodystrophy ZMPSTE24 Dental; Dermatologic;
Musculoskeletal
608629 Joubert syndrome-3 AHI1Neurologic; Ophthalmologic; Renal
608643 Aromatic L-amino acid decarboxylase deficiency DDC Biochemical;
Neurologic
608688 AICA-ribosiduria due to ATIC deficiency ATIC
Biochemical; Dermatologic; Neurologic; Ophthalmologic
608716 Microcephaly 5, primary, autosomal recessive ASPM Neurologic
608728 Spondyloepimetaphyseal dysplasia MATN3 Musculoskeletal
608747Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGF1Otolaryngologic; Endocrine; Neurologic
608782 Pyruvate dehydrogenase phosphatase deficiency PDP1 Biochemical;
Neurologic
608799 Congenital disorder of glycosylation, type Ie DPM1
Biochemical; Craniofacial; Neurologic; Ophthalmologic
608804 Leukodystrophy, hypomyelinating, 2 GJC2 Neurologic
608840Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LARGEMusculoskeletal; Neurologic; Ophthalmologic
608890 Waardenburg syndrome, type 2D SNAI2 Otolaryngologic; Ophthalmologic
608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
RAPSN Musculoskeletal; Neurologic
609006 Deafness, autosomal recessive 36 ESPN Otolaryngologic
609015 Trifunctional protein deficiency HADHB
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic
609016 LCHAD deficiency HADHA
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic
30
609033 Ataxia, posterior column, with retinitis pigmentosa FLVCR1 Neurologic;
Ophthalmologic
609053 Fanconi anemia, complementation group I FANCI
Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
609054 Fanconi anemia, complementation group J BRIP1 Hematologic;
Oncologic;
609060 Combined oxidative phosphorylation deficiency 1 GFM1
Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic
609241 Schindler disease, type I NAGA Neurologic
609242 Kanzaki disease NAGABiochemical; Dermatologic; Neurologic
609254 Senior-Loken syndrome 5 IQCB1 Ophthalmologic; Renal
609304 Epileptic encephalopathy, early infantile, 3 SLC25A22 Neurologic
609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
POMT1Cardiovascular; Musculoskeletal; Neurologic
609311 Charcot-Marie-Tooth disease, type 4H FGD4 Neurologic
609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNAP29 Dermatologic; Neurologic
609533 Deafness, autosomal recessive 23 PCDH15 Otolaryngologic609549 Nanophthalmos 2 MFRP Ophthalmologic
609560 Mitochondrial DNA depletion syndrome 2 (myopathic type) TK2 Biochemical;
Musculoskeletal
609583 Joubert syndrome 4 NPHP1Neurologic; Ophthalmologic; Renal
609638 Epidermolysis bullosa, lethal acantholytic DSP Dermatologic
609814 Complement factor H deficiency CFH
Immunology; Hematologic; Ophthalmologic; Renal
609823 Deafness, autosomal recessive 28 TRIOBP Otolaryngologic610006 2-methylbutyrylglycinuria ACADSB Biochemical
31
610090 Pyridoxamine 5'-phosphate oxidase deficiency PNPO Biochemical;
Neurologic
610127 Ceroid lipofuscinosis, neuronal, 10 CTSD
Biochemical; Neurologic; Ophthalmologic
610153 Deafness, autosomal recessive 49 MARVELD2 Otolaryngologic
610156Mental retardation, truncal obesity, retinal dystrophy, and micropenis
INPP5EGenitourinary; Neurologic; Ophthalmologic
610188 Joubert syndrome 5 CEP290
Genitourinary; Neurologic; Ophthalmologic; Pulmonary; Renal
610189 Senior-Loken syndrome 6 CEP290Gastrointestinal; Neurologic; Ophthalmologic
610198 3-methylglutaconic aciduria, type V DNAJC19
Biochemical; Cardiovascular; Gastrointestinal; Genitourinary; Hematologic; Neurologic; Ophthalmologic
610220 Deafness, autosomal recessive 59 DFNB59 Otolaryngologic610265 Deafness, autosomal recessive 67 LHFPL5 Otolaryngologic610282 Retinitis pigmentosa 35 SEMA4A Ophthalmologic610356 Retinal cone dystrophy 3B KCNV2 Ophthalmologic
610370 Diarrhea 4, malabsorptive, congenital NEUROG3 Endocrine;
Gastrointestinal
610377 Mevalonic aciduria MVK
Immunology; Dermatologic; Biochemical; Gastrointestinal
610498 Combined oxidative phosphorylation deficiency 2 MRPS16
Biochemical; Gastrointestinal; Neurologic
610505 Combined oxidative phosphorylation deficiency 3 TSFM
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic
610532 Leukodystrophy, hypomyelinating, 5 FAM126A Neurologic;
Ophthalmologic
610539 Gaucher disease, atypical PSAP
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic
610599 Retinitis pigmentosa 36 PRCD Ophthalmologic610651 Xeroderma pigmentosum, group ERCC3 Dermatologic;
32
B
Endocrine; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic
610682 Osteogenesis imperfecta, type VII CRTAP Musculoskeletal; Ophthalmologic
610688 Joubert syndrome 6 TMEM67Gastrointestinal; Neurologic; Renal; Ophthalmologic
610725 Nephrotic syndrome, type 3 PLCE1 Renal
610832 Fanconi anemia, complementation group N PALB2
Cardiovascular; Dermatologic; Hematologic; Musculoskeletal; Oncologic; Renal
610915 Osteogenesis imperfecta, type VIII LEPRE1 Musculoskeletal
610951 Ceroid lipofuscinosis, neuronal, 7 MFSD8Biochemical; Neurologic; Ophthalmologic
610992 Phosphoserine aminotransferase deficiency PSAT1 Biochemical;
Neurologic611022 Deafness, autosomal recessive 24 RDX Otolaryngologic611038 Microphthalmia, isolated 3 RAX Ophthalmologic611040 Microphthalmia, isolated 5 MFRP Ophthalmologic
611067 Spinal muscular atrophy, distal, autosomal recessive, 4 PLEKHG5 Musculoskeletal;
Neurologic
611126 ACAD9 deficiency ACAD9
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic
611131 Retinitis pigmentosa 37 NR2E3 Ophthalmologic
611228 Charcot-Marie-Tooth disease, type 4J FIG4 Neurologic
611263 Short-rib thoracic dysplasia 2 with or without polydactyly IFT80 Musculoskeletal
611307 Muscular dystrophy, limb-girdle, type 2L ANO5 Immunology;
Musculoskeletal611451 Deafness, autosomal recessive 63 LRTOMT Otolaryngologic
611490 Osteopetrosis, autosomal recessive 4 CLCN7
Immunology; Otolaryngologic; Hematologic; Musculoskeletal; Ophthalmologic
611560 Joubert syndrome 7 RPGRIP1L Craniofacial; Musculoskeletal; Neurologic;
33
Ophthalmologic; Renal
611561 Meckel syndrome 5 RPGRIP1L
Gastrointestinal; Musculoskeletal; Neurologic; Ophthalmologic; Renal
611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
FKTN Musculoskeletal; Neurologic
611705 Myopathy, early-onset, with fatal cardiomyopathy TTN Cardiovascular;
Musculoskeletal
611719 Combined oxidative phosphorylation deficiency 5 MRPS22
Biochemical; Cardiovascular; Renal; Musculoskeletal; Neurologic
611721 Combined SAP deficiency PSAP Gastrointestinal; Neurologic
611809 Bestrophinopathy, autosomal recessive BEST1 Ophthalmologic
611881 Glycogen storage disease XII ALDOA
Biochemical; Hematologic; Musculoskeletal; Neurologic; Renal
612016 Coenzyme Q10 deficiency, primary, 4 ADCK3 Biochemical;
Neurologic612067 Dystonia 16 PRKRA Neurologic612095 Retinitis pigmentosa 41 PROM1 Ophthalmologic
612138 Epidermolysis bullosa simplex with pyloric atresia PLEC
Dermatologic; Gastrointestinal; Musculoskeletal
612233 Leukodystrophy, hypomyelinating, 4 HSPD1 Neurologic
612285 Joubert syndrome 9 CC2D2A Neurologic; Ophthalmologic
612291 Joubert syndrome 8 ARL13BNeurologic; Ophthalmologic; Renal
612416 Factor XI deficiency, autosomal recessive F11 Hematologic
612541 Neutropenia, severe congenital 4, autosomal recessive G6PC3
Immunology; Otolaryngologic; Cardiovascular; Craniofacial; Endocrine; Gastrointestinal; Genitourinary; Hematologic; Neurologic; Renal
34
612572 Retinitis pigmentosa 46 IDH3B Ophthalmologic612645 Deafness, autosomal recessive 1B GJB6 Otolaryngologic
612703 Microcephaly 7, primary, autosomal recessive STIL Neurologic
612712 Leber congenital amaurosis 13 RDH12 Ophthalmologic
612736 Cerebral creatine deficiency syndrome 2 GAMT Biochemical;
Neurologic
612932 Glycogen storage disease XIII ENO3 Biochemical; Musculoskeletal
612933 Glycogen storage disease XI LDHA
Biochemical; Dermatologic; Musculoskeletal; Renal
613027 Glycogen storage disease IXc PHKG2
Biochemical; Gastrointestinal; Musculoskeletal; Neurologic
613038 Pituitary hormone deficiency, combined, 1 POU1F1 Cardiovascular;
Endocrine613079 Deafness, autosomal recessive 77 LOXHD1 Otolaryngologic613093 Cone dystrophy 4 PDE6C Ophthalmologic
613150
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
POMT2Musculoskeletal; Neurologic; Ophthalmologic
613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
POMGNT1
Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic
613154
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6
LARGEMusculoskeletal; Neurologic; Ophthalmologic
613155Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
POMT1
Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic
613156Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
POMT2
Cardiovascular; Musculoskeletal; Neurologic; Ophthalmologic
613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
POMGNT1Musculoskeletal; Neurologic; Ophthalmologic
613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
POMT2Cardiovascular; Musculoskeletal; Neurologic
613194 Retinitis pigmentosa-50 BEST1 Ophthalmologic613265 Waardenburg syndrome, type 4B EDN3 Otolaryngologic;
35
Dermatologic; Gastrointestinal; Ophthalmologic
613285 Deafness, autosomal recessive 25 GRXCR1 Otolaryngologic613307 Deafness, autosomal recessive 79 TPRN Otolaryngologic
613312 Hypophosphatemic rickets, autosomal recessive, 2 ENPP1 Musculoskeletal;
Renal613341 Leber congenital amaurosis 14 LRAT Ophthalmologic
613390 Fanconi anemia, complementation group O RAD51C
Cardiovascular; Gastrointestinal; Musculoskeletal; Renal
613490 Emphysema due to AAT deficiency SERPINA1 Gastrointestinal;
Pulmonary
613550 Nephronophthisis 11 TMEM67Gastrointestinal; Neurologic; Renal; Ophthalmologic
613575 Retinitis pigmentosa 55 ARL6 Ophthalmologic613581 Retinitis pigmentosa 56 IMPG2 Ophthalmologic613582 Retinitis pigmentosa 57 PDE6G Ophthalmologic613660 Cone-rod dystrophy 15 CDHR1 Ophthalmologic613731 Retinitis pigmentosa 4 RHO Ophthalmologic613756 Retinitis pigmentosa 49 CNGA1 Ophthalmologic613767 Retinitis pigmentosa 45 CNGB1 Ophthalmologic613769 Retinitis pigmentosa 44 RGR Ophthalmologic613779 C3 deficiency C3 Immunology; Renal613794 Retinitis pigmentosa 20 RPE65 Ophthalmologic613801 Retinitis pigmentosa-40 PDE6B Ophthalmologic613810 Retinitis pigmentosa 43 PDE6A Ophthalmologic
613812 Bile acid synthesis defect, congenital, 3 CYP7B1 Gastrointestinal
613823 Seckel syndrome 5 CEP152Craniofacial; Musculoskeletal; Neurologic
613829 Leber congenital amaurosis 7 CRX Ophthalmologic
613830Night blindness, congenital stationary (complete), 1D, autosomal recessive
SLC24A1 Ophthalmologic
613835 Leber congenital amaurosis 8 CRB1 Ophthalmologic613843 Leber congenital amaurosis 15 TULP1 Ophthalmologic613861 Retinitis pigmentosa 59 DHDDS Ophthalmologic613862 Retinitis pigmentosa 38 MERTK Ophthalmologic613865 Deafness, autosomal recessive 61 SLC26A5 Otolaryngologic613951 Fanconi anemia, complementation
group PSLX4 Otolaryngologic;
Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal;
36
Neurologic; Oncologic; Ophthalmologic; Renal
613985 Thalassemias, beta- HBBHematologic; Musculoskeletal; Neurologic
613987 Dyskeratosis congenita, autosomal recessive 2 NHP2
Immunology; Dermatologic; Endocrine; Gastrointestinal; Hematologic; Neurologic; Oncologic; Pulmonary
613989 Dyskeratosis congenita, autosomal recessive 4 TERT
Cardiovascular; Dental; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Pulmonary
614035 Deafness, autosomal recessive 29 CLDN14 Otolaryngologic
614082 Fanconi anemia, complementation group G FANCG
Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
614083 Fanconi anemia, complementation group L FANCL
Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic; Ophthalmologic; Renal
614087 Fanconi anemia, complementation group M
FANCM Otolaryngologic; Immunology; Dermatologic; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Oncologic;
37
Ophthalmologic; Renal
614120 Hydrolethalus syndrome 2 KIF7Craniofacial; Musculoskeletal; Neurologic
614134 Stickler syndrome, type IV COL9A1
Otolaryngologic; Craniofacial; Musculoskeletal; Ophthalmologic
614175 Meckel syndrome 10 B9D2Gastrointestinal; Musculoskeletal; Neurologic; Renal
614180 Retinitis pigmentosa 61 CLRN1 Ophthalmologic614181 Retinitis pigmentosa 62 MAK Ophthalmologic614186 Leber congenital amaurosis 16 KCNJ13 Ophthalmologic
614284 Stickler syndrome, type V COL9A2 Otolaryngologic; Ophthalmologic
614307 Alpha-methylacyl-CoA racemase deficiency AMACR
Biochemical; Endocrine; Neurologic; Ophthalmologic
614565Night blindness, congenital stationary (complete), 1E, autosomal recessive
GPR179 Ophthalmologic
614651 Coenzyme Q10 deficiency, primary, 2 PDSS1
Otolaryngologic; Biochemical; Cardiovascular; Endocrine; Gastrointestinal; Hematologic; Musculoskeletal; Neurologic; Renal
614652 Coenzyme Q10 deficiency, primary, 3 PDSS2 Biochemical;
Neurologic; Renal
614750 Myasthenic syndrome, congenital, with tubular aggregates 2 DPAGT1
Hematologic; Musculoskeletal; Neurologic; Ophthalmologic
614852 Microcephaly 9, primary, autosomal recessive CEP152
Craniofacial; Musculoskeletal; Neurologic
614867 Peroxisome biogenesis disorder 5B PEX2
Biochemical; Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Renal
614872 Peroxisome biogenesis disorder 7A (Zellweger)
PEX26 Biochemical; Craniofacial; Gastrointestinal;
38
Genitourinary; Musculoskeletal; Neurologic; Renal
614895 Charcot-Marie-Tooth disease, type 4F PRX Neurologic
614921 Congenital disorder of glycosylation, type It PGM1
Biochemical; Cardiovascular; Gastrointestinal; Musculoskeletal; Neurologic; Renal
615158 Mitochondrial complex III deficiency, nuclear type 3 UQCRB Biochemical;
Gastrointestinal
615159 Mitochondrial complex III deficiency, nuclear type 4 UQCRQ Biochemical;
Neurologic
39
12
Table S2.Inter- and intra-run performance consistence of the targeted gene sequencing
run1-replicate1
run1- replicate2
run2-replicate1
run2-replicate2
Target size 1805816 1805816 1805816 1805816Mean sequencing depth
434,558 344,946 251,002 259,119
Coverage of targeted region>1 X 99,29% 99,27% 99,66% 99,67%> 20X 98,23% 98,09% 98,29% 98,68%
Detected Variants 1020 1019 1023 1022
indel 35 31 34 33SNV 985 988 989 989Genotypes consistence with genotypingYH_genotypingRef allele (negative allele) 3577 3577 3577 3577
non-ref allele (positive allele) 867 867 867 867
NGS-panel sequencingTrue positive 865 865 864 865True negative 3577 3577 3575 3577False positive 0 0 0 0False negative 2 2 3 2nocall-ref 0 0 2 0sensitivity 99,77% 99,77% 99,65% 99,77%Specificity 100,00% 100,00% 100,00% 100,00%Accuracy 99,96% 99,96% 99,93% 99,96%
40
12
Table S3.Consistency of sequencing coverage and variants detection between replicates
run1-replicate 1
run1-replicate 2
run2-replicate 1
run2-replicate 2
sequence coveragerun1-replicate
1 - 99,999%a 99,999% a 99,999% a
run1-replicate 2 99,742% b - 99,999% a 99,999% a
run2-replicate 1 98,797% b 98,705% b - 99,999% a
run2-replicate 2 99% b 99% b 99% b -
Variant detectionrun1-replicate
1 - 99,51% 98,26% 98,36%
run1-replicate 2 - 98,64% 98,74%
run2-replicate 1 - 99,51%
run2-replicate 2 -
Note: a >1x, b >20x
41
12
Table S4.
Target mutation: 3283 potential pathogenic mutations
Gene Mutation No. Detail Transcript Methods
ABCA4 36
2616_2617delCT,2888delG,IVS40+5G>A,A1762D,G1961E,3540_3555delGTCTAAGGGTTTCTCC,IVS38-10T>C,1225delA,R1898H,L1971R,R2107H,R2030*,A1038V,R1108C,Y340D,P1780A,L1970F,L2027F,G863A,R212C,3210_3211dupGT,L1940P,R18W,A1028V,E1036K,P1380L,R572Q,E1122K,IVS5-2A>G,W855*,R1129L,V2050L,V931M,IVS13-1G>A,1848delA,IVS30+1G>T
NM_000350.2 NGS
ABCB7 3 I401M,V412L,E434K NM_004299.3 NGSACAD9 4 R532W,F44I,R417C,R266Q NM_014049.4 NGSACADM 2 Y67H,K329E NM_000016.4 NGSACADS 1 R107C NM_000017.2 NGSACADSB 3 E387K,L255F,T148I NM_001609.3 NGSACADVL 3 T260M,V283A,G441D NM_000018.3 NGS
ACAT1 11
Q145E,Q272*,A380T,I312T,1083dupA,A333P,2T>A,G379V,1035_1037delAGA,N93S,G183R
NM_000019.3 NGS
ACE 4 R496*,1319_1322delTGGA,R791*,Y266* NM_000789.3 NGS
ACOX1 4 R148*,G178C,M278V,Q309R NM_004035.6 NGS
ACTN4 3 K255E,T259I,S262P NM_004924.4 NGSADA 4 A329V,R211H,R76W,L107P NM_000022.2 NGSADAMTS2 2 Q225*,W795* NM_014244.4 NGS
ADCK3 9
1750_1752delACC,G272V,1813_1814insG,993C>T,R213W,E551K,G549S,Y514C,G272D
NM_020247.4 NGS
AGA 5 A101V,C163S,S72P,G302R,800dupT NM_000027.3 NGS
AGL 13
W680*,R1228*,W1327*,Q6*,Y1510*,IVS31-12A>G,1999delC,18_19delGA,R408*,R864*,4456delT,3965delT,G1448R
NM_000642.2 NGS
AGPS 2 T309I,T568M NM_003659.3 NGS
42
AGT 2 Q202*,1290delT NM_000029.3 NGSAGTR1 1 215dupT NM_031850.3 NGS
AGXT 12
I244T,G170R,S187F,R233C,G82E,F152I,G156R,S205P,W108R,33_34insC,G41R,W246*
NM_000030.2 NGS
AHI1 10R351L,R329*,V443D,R435*,R351*,R589*,R723Q,K791*,R495H,3263_3264delGG
NM_017651.4 NGS
AIPL1 5 H82Y,C239R,R302L,W278*,A197P NM_014336.3 NGS
ALAS2 4 D190V,T388S,R452C,I476N NM_000032.4 NGSALDH4A1 1 S352L NM_003748.3 NGSALDH5A1 3 R412*,W204*,G409D NM_001080.3 NGSALDOA 2 E207K,D129G NM_000034.3 NGS
ALDOB 7A150P,360_363delCAAA,C240*,R60*,R4*,N335K,A175D
NM_000035.3 NGS
ALG1 3 S150R,G145D,M377V NM_019109.4 NGS
ALG6 3 A333V,897_899delAAT,S478P NM_013339.3 NGS
ALMS1 6Q3817*,Q2795*,Q3495*,10775delC,11316_11319delAGAG,R2722*
NM_015120.4 NGS
ALPL 20
F327L,G249V,R71C,D294A,A179T,G456R,Q207P,E191K,1559delT,D378V,A33V,R272C,A116T,E298K,Y436H,N417S,G334D,A176T,R136H,R71P
NM_000478.4 NGS
AMACR 2 S52P,L107P NM_014324.5 NGSAMT 3 R320H,G47R,H42R NM_000481.3 NGS
ANO5 6191_192insA,2311_2312delCA,IVS14+5G>A,A432G,G231V,R758C
NM_213599.2 NGS
APTX 7H201R,320delC,IVS8-1G>A,V263G,167delT,W279*,P206L
NM_175073.2 NGS
AR 10
K884*,L174*,Q114*,K591*,IVS2-11T>A,Q799E,E2K,W797*,R856H,W719*
NM_000044.3 NGS
ARG1 7 I11T,W122*,R21*,R291*,T290S,G235R,G138V NM_000045.3 NGS
ARL13B 3 W82*,R79Q,R200C NM_182896.2 NGSARSA 12 T411I,IVS7+1G>A,S98F,P42
8L,R86Q,A214V,IVS2+1G>A,1401_1411delGTTAGACGCAG,D257H,G247R,I181S,
NM_000487.5 NGS
43
G101D
ARSB 6 Y210C,C117R,G137V,L236P,H393P,C405Y NM_000046.3 NGS
ARSE 6 W581*,G137A,G137V,P578S,I40S,T481M NM_000047.2 NGS
ARX 2 P353L,Y27* NM_139058.2 NGS
ASL 8 Q286R,V178M,Q116*,R385C,R12Q,R379C,Q354*,R95C NM_000048.3 NGS
ASPA 7C218*,IVS2-2A>G,E285A,R71H,Y231*,Y288C,A305E
NM_000049.2 NGS
ASPM 64
9685delA,R1599*,9677dupG,6337_6338delAT,8844delC,7491_7495delTATTA,R797*,S1176*,4858_4859delAT,3477_3481delCGCTA,R3233*,L1063*,Y2063*,R3244*,E456*,Y1712*,1406_1413delATCCTAAA,Q2632*,Y2587*,E1266*,Q3060*,K3199*,8131_8132delAA,1729_1730delAG,I1717*,V335*,K3080*,Q193*,1959_1962delCAAA,Q3180P,R1271*,719_720delCT,R3064*,440delA,1154_1155delAG,7782_7783delGA,S3186*,Y3353*,Q2890*,1260_1266delTCAAGTC,R1019*,1179delT,G1028R,9159delA,Y3263*,Q664*,R980*,Y3164*,W989*,R3107*,9754delA,8378delT,S1237*,8508_8509delGA,9747_9748delCT,4195dupA,3663delG,9115_9118dupCATT,6732delA,V531*,7860_7861delGA,W1326*,R117*,4583delA
NM_018136.4 NGS
ASS1 14
G14S,R86H,R279*,IVS13+5G>A,R265H,R157H,R363W,G362V,IVS6-2A>G,G390R,G324S,R304W,S180N,W179R
NM_000050.4 NGS
ATIC 1 K426R NM_004044.6 NGS
ATP7A 7 N1304S,R201*,S637L,R980*,P1386S,T994I,G1019D NM_000052.5 NGS
ATP7B 19 H1069Q,G869R,L936*,L1120*,P992L,T766R,N1270S,A874V,T935M,W779*,M645R,3402delC,L708P,R969Q,IVS8-
NM_000053.3 NGS
44
2A>G,G691R,G1266R,R778L,R919G
ATR 1 D1879Y NM_001184.3 NGS
AUH 5 R197*,G187S,K331*,IVS8-1G>A,G217D NM_001698.2 NGS
B4GALT1 1 1031dupC NM_001497.3 NGSB9D2 1 S101R NM_030578.3 NGSBCKDHA 3 117delC,G290R,Y438N NM_000709.3 NGS
BCKDHB 6G278S,R183P,V119G,IVS9-7_1039delTCTG,H206Y,E372*
NM_183050.2 NGS
BCS1L 12G35R,R184C,R183H,S78G,R56*,S277N,R183C,P99L,R45C,V353M,T50A,R155P
NM_004328.4 NGS
BEST1 5 R141H,L41P,R200*,V317M,L140V NM_004183.3 NGS
BRCA2 8
E1550*,S1946*,658_659delGT,IVS19-1G>A,IVS7+1G>A,IVS7+2T>G,9900dupA,7691_7692insAT
NM_000059.3 NGS
BRIP1 2 A349P,R798* NM_032043.2 NGS
BSCL2 5 R138*,R275*,IVS6-3C>G,IVS6+5G>A,A212P NM_032667.6 NGS
BSND 8 R8L,G47R,1A>T,R8W,G10S,3G>A,I12T,E4* NM_057176.2 NGS
BTD 8R79C,G34S,A171T,R538C,98_104delGCGGCTGinsTCC,Q456H,T532M,D252G
NM_000060.2 NGS
BTK 30
R520Q,G613D,A607D,Y361C,Y425*,R562P,R28H,L408P,R562W,E636*,Q15*,E589G,R288W,R255*,C502*,W581R,E240*,Y591*,R13*,W252*,R525Q,R520*,K430E,Y334S,V113D,T33P,R307G,2T>C,L542P,Y375*
NM_000061.2 NGS
C10orf2 5 K319E,T457I,1287C>T,A318T,Y508C NM_021830.4 NGS
C3 5IVS9-2A>T,IVS18+1G>A,3116dupT,W552*,IVS10+1G>T
NM_000064.2 NGS
CA2 3 Y40*,H107Y,IVS2+1G>A NM_000067.2 NGS
CAPN3 9
550delA,1795_1796insA,R110*,2362_2363delAGinsTCATCT,R769Q,R572Q,S86F,R490Q,P319L
NM_000070.2 NGS
CBS 13 D444N,A114V,E144K,P145L,V168M,T191M,T353M,G3
NM_000071.2 NGS
45
07S,P422L,R369C,R266K,S466L,K384E
CC2D2A 6 R1528C,D1556V,P1122S,3289delG,R950*,R1049*
NM_001080522.2 NGS
CD2AP 2 IVS6-1delGinsCT,R612* NM_012120.2 NGS
CD40LG 9T254M,G227V,M36R,W140G,L155P,T211N,A123E,W140*,A235P
NM_000074.2 NGS
CDH23 14
D1341N,P240L,R301Q,D2148N,F1888S,IVS46-9G>A,Q1496H,IVS51+5G>A,R1502*,R1746Q,193delC,R2608H,IVS4+1G>A,R3189W
NM_022124.5 NGS
CDH3 4 N322I,R503H,830delG,981delG NM_001793.4 NGS
CDHR1 3 338delG,1463delG,524dupA NM_033100.2 NGSCDK5RAP2 6 R1481*,R1558*,Y82*,524_5
28delAGGCA,E234*,E1516* NM_018249.4 NGS
CENPJ 3 3243_3246delTCAG,18delC,E1235V NM_018451.4 NGS
CEP152 2 Q265P,Y678* NM_014985.3 NGS
CEP290 8W7C,G1890*,4656delA,L750*,K1575*,3185delT,R205*,384_387delTAGA
NM_025114.3 NGS
CERKL 4 K200*,R257*,780delT,420delT NM_201548.4 NGS
CFTR 152 1397C>A,IVS5+1G>T,S1251N,S466*,Q1313*,1911delG,IVS9+1G>A,I336K,S945L,Q890*,IVS3+1G>A,3276C>A,3744delA,E822*,948delT,R75*,F1052V,D110H,IVS12-1G>A,IVS13+1G>A,1A>G,W1282*,2052delA,Y122*,2988G>A,IVS16+5G>A,P67L,G622D,1156_1157insTA,2453delT,E1104*,2583delT,531delT,E60*,D1152H,1327_1330dupGATA,IVS13+3A>G,R851*,IVS2+12T>C,M1101K,Y1092*,L927P,IVS23+1G>A,Y515*,L1077P,3536_3539delCCAA,IVS3+3A>C,IVS11-8G>A,325_327delTATinsG,2538G>A,4077_4080delTGTTinsAA,IVS4+1G>T,R1066H,S1196*,IVS19-26A>G,IVS22+4A>G,IVS10-
NM_000492.3 NGS
46
1G>A,4251delA,E92K,S489*,Q359K,P205S,C524*,R117C,262_263delTT,1130_1131insA,Q39*,P750L,R352Q,3659delC,S1255*,Q98*,A559T,G85E,W846*,W401*,R117H,T360K,1022_1023insTC,K710*,2052_2053insA,1203G>A,IVS13+1G>T,3889_3890insT,W1204*,Q220*,R560K,E831*,S549R,IVS18+1G>A,1081delT,Q1238*,R1162*,G542*,1923_1931delCTCAAAACTinsA,H199Y,442delA,IVS5+3A>G,R709*,Q552*,R1066C,2051_2052delAAinsG,IVS14+1G>A,L206W,N1303K,T338I,3611G>A,W1089*,R560T,L732*,IVS11-1G>A,IVS5-1G>T,Q493*,R258G,805_806delAT,IVS13+5G>T,S492F,1645A>C,V520F,2215delG,E217G,A455E,2875delG,IVS3-1G>A,IVS8+1G>A,S549N,G330*,IVS18-1G>A,G480C,R764*,2175_2176insA,R347H,P574H,E92*,1519_1521delATC,R553*,R347P,L671*,722_743delGGAGAATGATGATGAAGTACAG,803delA,G551D,2039delC,3528delC,G1244E,L1065P,1521_1523delCTT,3773_3774insT,2869_2870insG,IVS5+5G>A,R1158*,R334W,E585*
CHST6 2 L200R,D203E NM_021615.4 NGS
CLCN1 5 F167L,F413C,M485V,E291K,R894* NM_000083.2 NGS
CLCN7 3 R762Q,Q555*,L766P NM_001287.5 NGSCLDN14 3 G101R,398delT,V85D NM_144492.2 NGSCLDN19 3 Q57E,G20D,L90P NM_148960.2 NGS
CLN3 2 Y199*,E295K NM_001042432.1 NGS
CLN5 2 Y392*,E352* NM_006493.2 NGS
CLN6 6 L47F,L67P,R103Q,Y221*,316_317insC,E72* NM_017882.2 NGS
CLN8 5 R204L,A30P,R24G,W263C,8 NM_018941.3 NGS
47
8delG
CLRN1 9459_461delATT,C40G,Y63*,N48K,Y176*,L150P,M120K,P31L,L154W
NM_174878.2 NGS
CNGA1 3 K143*,S320F,1972delA NM_000087.3 NGSCNGB1 2 G993V,IVS32+1G>A NM_001297.4 NGSCNGB3 2 R403Q,1148delC NM_019098.4 NGSCOL11A1 2 G784R,1750dupG NM_001854.3 NGS
COL17A1 15
R1226*,R145*,G633D,IVS31-2A>G,4003_4004delGG,1706delC,2944_2947+1delGAAGG,R795*,520_521delAG,L855*,2965delA,R1303Q,4150_4151insG,Q1023*,IVS31-1G>T
NM_000494.3 NGS
COL18A1 2 3618_3619delGG,3517_3518delCC NM_030582.3 NGS
COL1A2 5 IVS24+1G>A,IVS24+1G>C,E1201*,R99*,IVS11+5G>A NM_000089.3 NGS
COL4A3 3 R1481*,S1524*,4420_4424delCTTTT NM_000091.4 NGS
COL4A4 5 R1377*,S1238*,G1201S,C1641*,P1572L NM_000092.4 NGS
COL7A1 28
Q2827*,G1347R,5819delC,G2749R,IVS70-1G>A,R2471*,IVS35+1G>T,3861delG,2471_2472insG,R2069C,K142R,IVS3-2A>G,IVS64+1G>A,R2063W,7787delG,G2031S,Y311*,R1630*,IVS95-1G>A,6527_6528insC,G1595R,6266_6269delCCCC,G2287R,R1763*,R236*,G1815R,R2814*,M2798K
NM_000094.3 NGS
COL9A1 1 R295* NM_001851.4 NGSCOQ2 3 Y297C,N228S,R197H NM_015697.7 NGS
CPS1 5 Q44*,T544M,G982D,R787*,H337R NM_001875.4 NGS
CPT1A 6 G709E,D454G,Y498C,E360G,Q100*,A414V NM_001876.3 NGS
CPT2 13
P227L,S113L,D553N,R631C,E174K,D213G,R151Q,Q413*,Y120C,Y628S,R124*,R503C,F383Y
NM_000098.2 NGS
CRB1 10C948Y,I1100R,E1333*,C896*,R764C,E995*,I1100T,C1181R,K801*,M1041T
NM_201253.2 NGS
CRLF1 12 Q180*,R277*,303delC,P138 NM_004750.4 NGS
48
L,IVS3+5G>A,W284C,708_709delCCinsT,R312H,845_846delTG,713_714insC,W76G,676dupA
CRTAP 2 Y187*,Q276* NM_006371.4 NGSCRX 2 529delG,R90W NM_000554.4 NGSCSTB 2 Q71P,R68* NM_000100.3 NGS
CTNS 11
N323K,397_398delAT,IVS10-3C>G,V42I,357_360delCAGC,W138*,G110V,G339R,S139F,L158P,G95*,
NM_004937.2 NGS
CTSD 2 F229I,W383C NM_001909.4 NGS
CTSK 5 R241*,G79E,K52*,990A>G,L309P NM_000396.3 NGS
CYP21A2 10
[I237N;V238E;M240K], V282L, 292+5G>T, Q319X, R356W, P454S, P31L, 293-13A/C>G(655A/C>G), L308ffsX6, I172N
NM_000500.5
PCR+Sanger sequencing
CYP4V2 2 IVS8-2A>G,IVS2+1G>A NM_207352.3 NGSCYP7B1 3 Y275*,R63*,R388* NM_004820.3 NGSD2HGDH 3 N439D,I147S,IVS4-2A>G NM_152783.3 NGS
DBT 5 I98M,1448G>T,S194*,H452R,F276C NM_001918.3 NGS
DCLRE1C 6Y199*,IVS11+1G>C,IVS5+1G>T,IVS10+1G>A,IVS9+1delG,2T>C
NM_001033855.1 NGS
DDB2 4 D307Y,R313*,K244E,R273H NM_000107.2 NGSDDC 2 S250F,G102S NM_000790.3 NGSDFNB31 1 Q273* NM_015404.3 NGS
DFNB59 7 726delT,T54I,R183W,R167*,122delA,113dupT,988delG
NM_001042702.3 NGS
DGUOK 4 E227K,R142K,D255Y,R105* NM_080916.2 NGS
DHCR7 20
H119L,R242C,V326L,G303R,R404C,T93M,IVS8-1G>C,W248C,W151*,R352W,R446Q,R352Q,F302L,R242H,S169L,G244R,IVS7-1G>C,G410S,E448K,1A>G
NM_001360.2 NGS
DHDDS 1 K42E NM_024887.3 NGS
DKC1 7 F36V,K39E,Q31E,T49M,I38T,L72Y,T66A NM_001363.3 NGS
DLD 3 105_106insA,G229C,R495G NM_000108.3 NGSDLL3 2 G504D,R238* NM_016941.3 NGS
DMD 5 R2905*,R3391*,R3190*,S3127*,Q45* NM_004006.2 NGS
DMP1 3 IVS2-1G>C,362delC,1A>G NM_004407.3 NGSDNAJC19 1 IVS3-1G>C NM_145261.3 NGS
49
DPAGT1 4 V117I,L120M,V264G,Y170C NM_001382.3 NGS
DPM1 2 R92G,628delC NM_003859.1 NGSDPYD 1 IVS14+1G>A NM_000110.3 NGSDSP 2 6370_6371delCT,R1934* NM_004415.2 NGS
DYSF 12
Q605*,R1905*,G299W,W999C,R1046H,R2042C,G519R,P791R,G299R,V67D,D625Y,E1734G
NM_003494.3 NGS
EDA 9Y61*,R156C,A349T,R156H,725delG,R276C,573_574insT,R69L,R155C
NM_001399.4 NGS
EDN3 1 262_263delGCinsT NM_207034.1 NGSEDNRB 3 R201*,A183G,W276C NM_000115.3 NGSEGR2 1 I268N NM_000399.3 NGSEIF2AK3 2 R588Q,E332* NM_004836.5 NGSEMD 2 631_635delCGTGC,P183T NM_000117.2 NGSENO3 2 G156D,G374E NM_053013.3 NGS
ENPP1 8Y371F,P305T,Y261*,D538H,E893*,G342V,Y901S,G266V
NM_006208.2 NGS
ERCC2 4 S541R,R683W,L485P,Q726* NM_000400.3 NGSERCC3 3 R425*,F99S,Q545* NM_000122.1 NGS
ERCC4 4 Y577*,2281_2284delTTTG,C236R,R589W NM_005236.2 NGS
ERCC5 13
A874T,1494delA,Q176*,P72H,E960*,L858P,2972delT,2170delT,2751delA,Q136*,A792V,R263*,1115_1118delGGAA
NM_000123.3 NGS
ERCC6 6 W517*,R735*,R453*,3592_3593insGA,R683*,R1288* NM_000124.2 NGS
ERCC8 3 Y322*,A160V,E13* NM_000082.3 NGS
ESCO2 14
1111_1112insG,1597dupT,308_309delAA,751dupG,745_746delGT,876_879delCAGA,764_765delTT,879_880delAG,W539G,R169*,Q202*,760_761insA,W423*,760delA
NM_001017420.2 NGS
ESRRB 2 1018_1024dupGAGTTTG,V342L NM_004452.3 NGS
ETFA 3 V157G,T266M,G116R NM_000126.3 NGSETFB 2 R164Q,D128N NM_001985.2 NGS
ETFDH 7 P483L,R175H,L377P,A84T,R175L,L127H,2T>C NM_004453.2 NGS
ETHE1 5604dupG,L185R,440_450delACAGCATGGCC,R163W,Y74*
NM_014297.3 NGS
EYS 3 IVS28- NM_001142800 NGS
50
2A>G,6714delT,E1953* .1
F11 6 C56R,IVS14+1G>A,F301L,C146*,K270I,E135* NM_000128.3 NGS
F5 5 I387T,Y1730C,Q801*,R2102C,E147*,R534Q NM_000130.4 NGS
F8 27
Intron1 inversion,Intron22 inversion, R2169H, V181M, Y450N, R1708H, M1842I, W2248C, D2093G, R2326*, G1769R, R2178C, S596P, L431F, R2016W,E409G,R2323C,R391H,S2138Y,E739K,N1941S,Y492C,A1853V,R2228*,R550C,Y1699F,F2120L
NM_000132.3
NGS;Long-PCR+Electrophoresis
F9 8I344T,R298*,R379Q,R294Q,R43W,C28R,R384*,IVS3+2T>C
NM_000133.3 NGS
FAH 13
G343W,W262*,E364*,Q279R,R381G,IVS6-1G>T,P261L,E357*,A35T,D233V,IVS12+5G>A,N16I,G337S
NM_000137.2 NGS
FAM126A 1 L53P NM_032581.3 NGS
FAM20C 6 D451N,L388R,G365R,R549W,G280R,I258N NM_020223.3 NGS
FANCA 51115_1118delTTGG,233_236delTTGA,S1377*,3788_3790delTCT,S858R
NM_000135.2 NGS
FANCC 6 L496R,R548*,R185*,Q13*,67delG,IVS5+4A>T NM_000136.2 NGS
FANCE 3 IVS5-8G>A,Q119*,R141* NM_021922.2 NGS
FANCG 8
IVS7-2A>G,637_643delTACCGCC,IVS11+1G>C,IVS3+1G>C,Q356*,1183_1192delGAGGTGTTTT,1795_1804delTGGATCCGTC,E105*
NM_004629.1 NGS
FANCI 2 R1285Q,R1285* NM_001113378.1 NGS
FANCL 2 1096_1099dupATTA,1007_1009delTAT NM_018062.3 NGS
FANCM 1 S724* NM_020937.2 NGS
FGA 3 1359dupC,Q347*,IVS4+1G>T NM_021871.2 NGS
FGB 3 P265L,L383R,G430D NM_005141.4 NGS
FGD4 7R275*,1628_1629delAG,M298R,R224*,G586*,R442H,M298T
NM_139241.2 NGS
FH 2 Q376P,P174R NM_000143.3 NGS
51
FHL1 4 IVS679G>A,C209R,C224W,C104R NM_001449.4 NGS
FIG4 5I41T,R183*,831_838delTAAATTTG,1260_1261delGT,G104D
NM_014845.5 NGS
FKTN 5 A114T,F176S,R307Q,A170E,Y371C
NM_001079802.1 NGS
FLNA 2 S1186L,D1159A NM_001456.3 NGS
FLVCR1 4 G493R,N121D,A241T,C192R NM_014053.3 NGS
FOXN1 1 R255* NM_003593.2 NGS
FRAS1 76991_6992insGG,S1424*,5605_5606insT,Q3005*,IVS53+1G>T,Q1267*,Q2868*
NM_025074.6 NGS
FREM2 2 IVS14+1G>A,E1972K NM_207361.4 NGS
FUCA1 6 L410R,Q82*,W387*,Y216*,E380*,Q427* NM_000147.4 NGS
FXN 5 L106*,W173G,I154F,G130V,IVS3-2A>G NM_000144.4 NGS
G6PC 12
380_381insTA,Q347*,R83C,A124T,W77R,G184E,R83H,R295C,E110K,G188R,V166G,D38V
NM_000151.3 NGS
G6PC3 7 G260R,R253H,Y47*,M116V,935_936insT,G262R,L185P NM_138387.3 NGS
GAA 18
R854*,R725W,A237V,D645E,M439K,W746C,IVS1-32-13T>G,P545L,H372L,S529V,G293R,525delT,G643R,M318T,G219R,E521K,L355P,IVS10-3C>G
NM_000152.3 NGS
GALC 5 E385*,T529M,D544N,G286D,I599S NM_000153.3 NGS
GALT 18
F171S,Q188R,IVS2-2A>G,S135L,L74P,R333G,K285N,1138T>C,F194L,Q169K,R333W,Y209C,H319Q,P183T,M142K,E203K,V44M,L195P
NM_000155.3 NGS
GAMT 1 C169Y NM_000156.5 NGS
GAN 7 E169K,E486K,R201*,R477*,R138H,Q483*,I423T NM_022041.3 NGS
GBA 27
N409S,84dupG,R170L,D448V,P161S,H350R,T362I,G416S,N227S,Y251H,R398*,R392G,F255Y,P440L,R434P,V54L,K118N,D448H,IVS3+1G>A,L483P,P454R,L410V,G85E,R159Q,W351C,R502C,V433L
NM_001005741.2 NGS
52
GBE1 10R524Q,Y329S,R515C,H628R,W548*,L224P,F257L,R524*,E592*,Y329C
NM_000158.3 NGS
GCDH 7 R227P,V400M,R402W,E365K,A421V,Y295H,A293T NM_000159.2 NGS
GDAP1 5 S194*,R282C,L239F,Q163*,W31* NM_018972.2 NGS
GFM1 3 M496R,R250W,R47* NM_024996.5 NGS
GJB2 18
E47*,N206S,299_300delAT,310_323delAGGAAGTTCATCAA,W24*,270dupA,W77R,IVS1-22-2A>C,51_62delCACCAGCATTGGinsA,167delT,35delG,235delC,176_191delGCTGCAAGAACGTGTG,L90P,R143W,R184P,W77*,V37I
NM_004004.5 NGS
GLB1 20
R457*,R457Q,T82M,R59H,Y591N,Y591C,R49C,R201C,R351*,Y316C,I51T,R208C,R482H,R68W,W509C,W273L,G438E,R482C,Q408P,T500A
NM_000404.2 NGS
GLDC 6 S564I,R739H,A802V,A569T,R515S,A389V NM_000170.2 NGS
GLE1 2 V617M,I684T NM_001003722.1 NGS
GM2A 4 262_264delAAG,410delA,E54*,C138R NM_000405.4 NGS
GNE 6 G576E,V572L,M712T,R246Q,C303*,V696M NM_005476.5 NGS
GNPTAB 6 S1058*,W894*,S399F,Q104*,3503_3504delTC,R1189* NM_024312.4 NGS
GNS 4 1169delA,R355*,1226dupG,Q390* NM_002076.3 NGS
GPR143 6397T>C,T232K,992_993insCG,W133R,S152N,816_829delGCAAACAGATATCA
NM_000273.2 NGS
GPR179 6 984delC,278delC,187delC,R200*,IVS8+1G>A,H603Y
NM_001004334.2 NGS
GPR98 8
17668_17669delAT,8713_8716dupAACA,Y6044C,2258_2270delAAGTGCTGAAATC,8790delC,17137delG,5357_5358delAA,Q2301*
NM_032119.3 NGS
GRHPR 3 103delG,R99*,403_404+2delAAGT NM_012203.1 NGS
GRM6 7Q708*,E781K,I405T,727_728insG,C522Y,R621*,719_720insG
NM_000843.3 NGS
GRXCR1 4 IVS2- NM_001080476 NGS
53
9C>A,R138C,IVS2+19A>T,Q77* .2
GSS 6 R283C,4delG,D219A,D219G,R267W,R164Q NM_000178.2 NGS
GUCY2D 3 622delC,2945delG,F565S NM_000180.3 NGS
GUSB 15
W446*,Y495C,P148S,R216W,R611W,A619V,W507*,R357*,W627C,K350N,R577L,L176F,A354V,R382C,IVS7+1G>A
NM_000181.3 NGS
HADHA 5 E510Q,Q378*,R560*,2132_2133insC,1793_1794delAT NM_000182.4 NGS
HADHB 2 V455G,R444K NM_000183.2 NGS
HBB 22
27dupG,IVS1-21G>A,135delC,E27K,K18*,A28S,IVS1+5G>C,V127E,IVS2-197C>T,126_129delCTTT,N20S,E7V,112delT,IVS1+5G>A,-50-u28A>G,IVS2+1G>A,85_86insC,217dupA,Q40*,E122K,E7K,E122Q
NM_000518.4 NGS
HESX1 5 IVS2+2T>C,Q6H,R160C,450_451delCA,I26T NM_003865.2 NGS
HEXA 32
IVS9+1G>A,W485R,L39R,IVS6+1G>A,R504H,D258H,W26*,IVS12+1G>C,R499H,1A>G,R137*,E482K,W329*,G250D,R170Q,Y180*,R393*,R170W,1274_1277dupTATC,R504C,R178C,R499C,W392*,G269S,W420C,915_917delCTT,1510delC,IVS7+1G>A,R178L,R178H,R249W,R247W
NM_000520.4 NGS
HEXB 4 Y456S,965delT,P417L,R284* NM_000521.3 NGS
HFE 4 C282Y,S65C,Q283P,H63D NM_000410.3 NGS
HGD 12
G270R,1111_1112insC,IVS5+1G>A,R58*,V300G,457_458insG,G161R,P230S,M368V,IVS1-1G>A,C120W,175delA
NM_000187.3 NGS
HGF 1 495G>A NM_000601.4 NGS
HGSNAT 81345dupG,P283L,525dupT,S518F,R344C,L321*,IVS3-2A>G,IVS4+1G>A
NM_152419.2 NGS
HIBCH 3 Y122C,IVS3-9T>G,IVS2-3C>G NM_014362.3 NGS
HMGCL 2 E279K,R41Q NM_000191.2 NGS
54
HPD 3 Y200*,I335M,Y258* NM_002150.2 NGS
HPRT1 8L65F,D201G,D80V,S110L,R170*,212_213insG,M57T,R48H
NM_000194.2 NGS
HPS1 6
972delC,1472_1487dupCCAGCAGGGGAGGCCC,IVS5+5G>A,972_973insC,E133*,E666*
NM_000195.3 NGS
HSD17B4 5 423_424delGA,G16S,Y217C,N457Y,R106P NM_000414.3 NGS
HSPG2 2 C1532Y,IVS64+4A>G NM_005529.5 NGSHTRA1 4 R370*,R302*,V297M,A252T NM_002775.4 NGSHYLS1 1 D211G NM_145014.2 NGSIDH3B 2 589delA,L132P NM_006899.3 NGS
IDS 10W475*,R468W,M488I,R443*,R468L,R468Q,S333L,R172*,C422G,G489A
NM_000202.5 NGS
IFT80 3 H105Q,1646_1648delTAT,A701P NM_020800.2 NGS
IGF1 1 V92M NM_000618.3 NGS
IGHMBP2 7 H213R,R788*,L236*,675delT,V580I,Q41*,IVS13+1G>T NM_002180.2 NGS
IKBKAP 3 R696P,IVS20+6T>C,P914L NM_003640.3 NGS
IL2RG 10I153N,S308*,C62*,K119*,IVS3+1G>A,C115R,R222C,L151P,R285Q,R289*
NM_000206.2 NGS
IMPDH1 1 D311N NM_000883.3 NGSIMPG2 3 R906*,S212*,R964* NM_016247.3 NGS
INPP5E 5 R563H,R378C,R435Q,R515W,Q627* NM_019892.4 NGS
INSR 6 R372*,L233P,G58R,K460E,W1227S,R1027* NM_000208.2 NGS
IQCB1 4 Q357*,E346*,R489*,R461* NM_001023570.2 NGS
ISCU 1 G50E NM_213595.2 NGSITGA6 1 S264* NM_000210.2 NGS
ITGB4 14
C38R,C562R,R1281W,W1478*,L156P,4410delG,IVS31-19T>A,3801_3802insT,R1225H,1150delG,IVS30+1G>A,R554*,C61Y,G931D
NM_001005731.1 NGS
IVD 5 A314V,1188delT,R53C,G202V,L45P NM_002225.3 NGS
JAK3 4 C565*,R445*,Y100C,1172_1173insG NM_000215.3 NGS
KCNJ1 8 Y79*,S219R,A198T,W27*,A214V,N124K,D108H,G167E NM_000220.3 NGS
KCNJ13 2 R166*,L241P NM_002242.4 NGSKCNV2 10 F164S,8_11delAACA,Q109* NM_133497.3 NGS
55
,S256W,G459D,E143*,Q76*,357_358insC,1016_1024delACCTGGTGG,E306*
KIF7 4 2896_2897delGC,687delG,Q1001*,R154* NM_198525.2 NGS
L1CAM 14
924C>T,D598N,C264Y,G452R,P240L,S1194L,I179S,V752M,G370R,R184Q,IVS15+5G>A,IVS25-1G>C,3489_3490delTG,IVS18-19A>C
NM_000425.3 NGS
LAMA2 10
8314delA,825delC,R2383*,2049_2050delAG,Q1240*,R3085*,R2578*,C967*,R1549*,2098_2099delTT
NM_000426.3 NGS
LAMA3 4 R706*,R661*,335delG,Q1379* NM_000227.3 NGS
LAMB3 10
R42*,904delT,1587_1588delAG,R635*,1438_1442delCCGTG,Q243*,Q166*,W610*,E210K,Q936*
NM_000228.2 NGS
LAMC2 8
3512_3513insA,2137_2143delCAGAACC,IVS8-1G>A,Y355*,C553*,IVS3-1G>A,R245*,R95*
NM_005562.2 NGS
LARGE 3 E509K,S331F,W495R NM_004737.4 NGS
LBR 3 R583Q,1402delT,32_35delTGGT NM_002296.3 NGS
LDHA 2 640_641delCT,IVS2+1G>A NM_005566.3 NGS
LEPRE1 6IVS5+1G>T,R368*,1365_1366delAGinsC,747delC,IVS9+1G>T,Y552*
NM_022356.3 NGS
LHFPL5 4 L84*,Y127C,649delG,T165M NM_182548.3 NGS
LHX3 3 Y116C,W229*,A215V NM_014564.3 NGS
LIFR 4 653dupT,2013_2014insT,171_174delTAAC,R597* NM_002310.5 NGS
LIG4 4 R580*,G469E,R814*,R278H NM_002312.3 NGS
LMNA 7 V440M,R527H,R527C,A529V,K542N,R471C,R298C NM_170707.3 NGS
LOXHD1 2 R670*,R1572* NM_144612.6 NGSLRAT 2 217_218delAT,S175R NM_004744.3 NGS
LRP2 13
R3399*,8519_8522delATTT,11469_11472delTTTG,IVS7-2A>G,R365*,IVS18-1G>A,IVS44+1G>A,9484_9485delGT,13139_13140insC,9358_9359delAG,IVS11+2T>G,D2054N,Y2522H
NM_004525.2 NGS
56
LRP5 14
E485*,1468delG,W734*,IVS7+1G>A,2305delG,R494Q,R570W,Q853*,R428*,804_813delGGGGAAGAGG,R752G,E1367K,R570Q,G610R
NM_002335.2 NGS
LRPPRC 2 C1277*,A354V NM_133259.3 NGS
LRTOMT 5 R81Q,W105R,Y111*,E110K,IVS5+4A>C
NM_001145308.4 NGS
MAK 4 R166H,N130H,Q240*,G13S NM_001242957.1 NGS
MAN2B1 7 H72L,P356R,Q639*,IVS14+1G>C,R760*,L809P,R750W NM_000528.3 NGS
MARVELD2 5
IVS4+2T>C,IVS4+2_1331+5delTGAG,IVS4+1G>A,R500*,IVS3-1G>A
NM_001038603.2 NGS
MAT1A 10
R264C,G336R,A55D,L305P,I322M,1043_1044delTG,538_539insTG,R264H,P357L,827_828insG
NM_000429.2 NGS
MATN3 1 C304S NM_002381.4 NGSMBTPS2 4 R429H,W226L,F475S,M87I NM_015884.3 NGSMCCC1 4 L437P,V694*,D532H,I460M NM_020166.3 NGS
MCCC2 8R155Q,E99Q,I437V,517_518insT,P310R,V339M,R268T,D280Y
NM_022132.4 NGS
MCEE 2 R47*,K60Q NM_032601.3 NGS
MCOLN1 5 R322*,R102*,IVS3-2A>G,D362Y,R403C NM_020533.2 NGS
MCPH1 5 427_428insA,S25*,566_567insA,S72L,S101* NM_024596.3 NGS
MECP2 6 A140V,E137G,G428S,P322S,P225L,E394* NM_004992.3 NGS
MED12 4 H1729N,S1165P,R1148H,N1007S NM_005120.2 NGS
MED25 1 A335V NM_030973.3 NGS
MEFV 15
2040G>C,F479L,M680I,R653H,M694I,K695R,P369S,M694V,V726A,T267I,R761H,E167D,A744S,2076_2078delAAT,E148Q
NM_000243.2 NGS
MERTK 6R775*,IVS16+1G>T,R651*,IVS1+1G>A,2070_2074delAGGAC,IVS10-2A>G
NM_006343.2 NGS
MFRP 5 Q175*,498delC,I182T,1150_1151insC,499_500insC NM_031433.2 NGS
MFSD8 6 G429D,G310D,Y298*,T294K,P412L,Y121C NM_152778.2 NGS
MGAT2 3 S290F,H262R,C339* NM_002408.3 NGSMKKS 3 A242S,Y37C,H84Y NM_018848.3 NGS
57
MKS1 2 51_55dupCCGGG,IVS1+2T>C NM_017777.3 NGS
MLC1 8
N141S,P92S,S93L,S280L,IVS2-10T>A,S69L,N141K,135_136insC
NM_015166.3 NGS
MLYCD 1 S187* NM_012213.2 NGSMMAA 4 503delC,R145*,Q95*,Y207C NM_172250.2 NGSMMAB 3 H183L,R186W,R190H NM_052845.3 NGS
MMACHC 6 271dupA,R132*,G147A,R111*,R161Q,L116P NM_015506.2 NGS
MMADHC 7 Y249C,L259P,R250*,T182N,R54*,Y140*,S20* NM_015702.2 NGS
MOCS1 2 R319Q,R73W NM_005943.5 NGSMOCS2 3 Q6*,*487A>C,*422G>A NM_176806.2 NGS
MPI 4 R219Q,S102L,M138T,R295H NM_002435.1 NGS
MPV17 5 N166K,R50W,R50Q,G24W,W120* NM_002437.4 NGS
MRPS16 1 R111* NM_016065.3 NGSMRPS22 2 L215P,R170H NM_020191.2 NGS
MTHFR 7 M581I,W339G,L323P,R183*,A222V,R377C,N324S NM_005957.4 NGS
MTM1 4 R241C,141_144delAGAA,R224*,R69C NM_000252.2 NGS
MTMR2 3 Q426*,E276*,Q482* NM_016156.5 NGSMTTP 3 R540H,S590I,G865* NM_000253.2 NGS
MUT 10G717V,R694W,W105R,N219Y,R369C,R93H,G623R,R108C,G215S,R228*
NM_000255.3 NGS
MVK 8 I268T,R277C,V377I,H20P,P165L,A334T,N301T,V310M NM_000431.2 NGS
MYO15A 9
9958_9961delGACT,3336delG,IVS4+1G>T,E1105*,10573delA,G1831V,Q1229*,Q2716H,IVS50-1G>C
NM_016239.3 NGS
MYO3A 3 Y1043*,IVS8-2A>G,IVS17-12G>A NM_017433.4 NGS
MYO5A 1 R778* NM_000259.3 NGSMYO6 3 E216V,R1166*,36dupT NM_004999.3 NGS
MYO7A 13
R212C,R212H,R150*,6025delG,C628*,R666*,R1743W,IVS27-1G>C,R244P,M599I,3596dupT,IVS3-2A>G,R395H
NM_000260.3 NGS
NAGA 4 R329W,E193*,R329Q,E325K NM_000262.2 NGS
NAGS 6 W324*,IVS3-2A>T,1025delG,E433D,1307
NM_153006.2 NGS
58
dupT,L430PNDRG1 2 R148*,IVS8-1G>A NM_006096.3 NGS
NEB 3 19119_19120delGA,18318_18319delAG,E6536* NM_004543.4 NGS
NEFL 2 E210*,E140* NM_006158.3 NGSNEUROG3 2 R107S,R93L NM_020999.3 NGSNHP2 2 460T>A,Y139H NM_017838.3 NGS
NMNAT1 9E257K,L153V,N273D,V9M,R207W,R237L,V151F,W169*,838T>C
NM_022787.3 NGS
NOP10 1 R34W NM_018648.3 NGS
NPC1 17
R978C,N1156S,C177Y,R958Q,A1035V,G992W,3611_3614delTTAC,P1007A,Y1088C,IVS23+1G>A,C113R,T1036M,3662delT,R1059*,I1061T,G992R,V950M
NM_000271.4 NGS
NPC2 11
IVS2+5G>A,S67P,27delG,111delG,Q146*,IVS1+2T>C,E20*,E118*,IVS4+1G>A,V39M,P120S
NM_006432.3 NGS
NPHP1 2 IVS18+1G>T,L27* NM_000272.3 NGSNPHP3 3 R577*,IVS13+5G>A,Q1114* NM_153240.4 NGSNPHP4 2 Q779*,R658* NM_015102.3 NGS
NPHS1 10
R1109*,3250_3251insG,3250delG,1307_1308dupAC,D819V,1481delC,C265R,121_122delCT,V822M,R1160*
NM_004646.3 NGS
NR0B1 22
Y271*,Y197*,L263*,W235*,N440I,W105C,Y91*,W171*,W369*,1169delA,Q283*,I439S,Y380D,388_389delTA,W291C,Q395*,R267P,Q37*,L381H,L297P,K382N,Y399*
NM_000475.4 NGS
NR2E3 5IVS1-2A>C,R311Q,R76Q,R76W,L345*
NM_014249.2 NGS
NTRK1 9
Y359C,G571R,M581V,P689L,IVS7-33T>A,1709delT,1908_1909insT,A612S,R774P
NM_001012331.1 NGS
NUP62 1 Q391P NM_153719.3 NGSNYX 1 W350* NM_022567.2 NGSOAT 25 W391*,W275*,P199Q,159de
lC,Y209*,Y299*,G401*,192_193delAG,C93F,3G>A,R426*,Q90E,V332M,C394R,E318K,A226V,H319Y,L402P,952delG,R180T,P417L,R396*,I
NM_000274.3 NGS
59
VS7-2A>G,W178*,R271K
OCA2 9G27R,W679C,IVS17+1G>T,P743L,N489D,M394I,V443I,A481T,1960delG
NM_000275.2 NGS
OCRL 2 166_167delAT,R844* NM_000276.3 NGS
OFD1 3 2844_2850delAGACAAA,2767delG,2126_2129dupAAAG NM_003611.2 NGS
OPA3 1 IVS1-1G>C NM_025136.3 NGSOSTM1 1 415_416delAG NM_014028.3 NGS
OTC 14
R129H,IVS7+2T>C,E87K,G50*,R277W,M206R,P225L,E154*,R26Q,L45P,L111P,R40H,Q216E,R40C
NM_000531.5 NGS
OTOA 1 IVS12+2T>C NM_144672.3 NGS
OTOF 8
1778delT,2348delG,I515T,L1011P,IVS8-2A>G,Q829*,Y1497*,R1939Q
NM_194248.2 NGS
PAH 32
F161S,R243*,L48S,Y204C,R408W,R413P,Y414C,I65T,IVS4+5G>T,E280K,R53H,IVS12+1G>A,284_286delTCA,F299C,R158Q,R111*,R408Q,IVS11+1G>A,IVS2+5G>A,R243Q,R252W,A403V,T380M,722delG,L255S,R261Q,1197A>T,IVS4-1G>A,Y356*,IVS10-11G>A,P281L,F39L
NM_000277.1 NGS
PALB2 4 Q988*,3116delA,Y1183*,Y551* NM_024675.3 NGS
PANK2 7 R264W,S178*,Y190*,T528M,G521R,R481*,IVS4-1G>T NM_153638.2 NGS
PAX3 2 S84F,Y90H NM_181457.3 NGS
PC 4 R156Q,R583L,V145A,A610T NM_000920.3 NGS
PCCA 3 G631R,A138T,R288* NM_000282.3 NGS
PCCB 9T428I,1540_1541insCCC,R410W,G246V,R499*,1173_1174insT,E168K,R512C,Y435C
NM_000532.4 NGS
PCDH15 8G262D,R134G,V528D,R3*,1088delT,S647*,IVS27-2A>G,R245*
NM_033056.3 NGS
PDE6A 4 V685M,R102S,W561*,Y583* NM_000440.2 NGS
PDE6B 4 Q298*,R531*,H557Y,L527P NM_000283.3 NGSPDE6C 12 R29W,Y819*,E211D,256_25
7insAG,IVS11-2A>G,R276*,E790K,IVS1-
NM_006204.3 NGS
60
12T>A,H602L,Y323N,Y561*,M455V
PDE6G 1 IVS3+1G>T NM_002602.3 NGSPDHA1 2 D258A,R263G NM_000284.3 NGSPDP1 2 851_853delTTC,E93* NM_018444.3 NGSPDSS1 1 D308E NM_014317.3 NGSPDSS2 2 Q322*,S382L NM_020381.3 NGSPDX1 3 E178K,E178G,E164D NM_000209.3 NGS
PEX1 4 2097_2098insT,L664P,2916delA,G843D NM_000466.2 NGS
PEX12 3 K231*,R180*,S320F NM_000286.2 NGSPEX2 2 E55K,R119* NM_000318.2 NGS
PEX26 5 254dupT,G89R,34_35insC,R98W,2T>C NM_017929.5 NGS
PEX5 2 R427*,N526K NM_001131025.1 NGS
PEX7 7H285R,IVS9+1G>C,R232*,G217R,W206*,L292*,A218V
NM_000288.3 NGS
PGM1 4 G121R,R503*,IVS7-1G>C,T115A NM_002633.2 NGS
PHKG2 1 R44* NM_000294.2 NGS
PHYH 13
164delT,IVS5-2A>G,N269H,IVS6-1G>T,R275W,R275Q,IVS2-1G>C,IVS6+5G>T,R245Q,IVS2-2A>G,G204S,D177G,IVS6+2T>G
NM_006214.3 NGS
PKHD1 73766delC,9689delA,3761_3762delCCinsG,R496*,V3471G,5895dupA,T36M
NM_138694.3 NGS
PKLR 8Q421K,R559*,R510Q,T384M,R479H,G37E,R163C,R486W
NM_000298.5 NGS
PLA2G6 6 R632W,V310E,K545T,R37*,A80T,Y790* NM_003560.2 NGS
PLCE1 8S1484L,R321*,Q1616*,3846delG,Q1854*,R1246*,R1116*,R493*
NM_016341.3 NGS
PLEC 4 R3029*,R2319*,Q305*,12043_12044insG NM_000445.3 NGS
PLEKHG5 1 F647S NM_020631.4 NGS
PLG 6 R235H,K38E,W616*,V374F,E479*,693_695delGAA NM_000301.3 NGS
PLOD1 5 Y511*,R319*,G678R,R670*,W612C NM_000302.3 NGS
PLP1 4 A242V,3G>A,D57Y,R137W NM_000533.3 NGSPMM2 21 R141H,D223E,D188G,P113L NM_000303.2 NGS
61
,C241S,V231M,N216I,L32R,F207S,R162W,D65Y,T226S,G117R,V44A,C9Y,V129M,T237R,R123Q,I132T,F119L,Y106F
PNPO 2 R229W,784T>C NM_018129.3 NGS
POLG 18
R232H,3630dupC,N864S,W748S,R3P,R627W,P1073L,L304R,T251I,Q497H,G737R,R227W,A467T,H932Y,R853W,2T>C,G848S,E873*
NM_002693.2 NGS
POMGNT1 91864delC,R311Q,W475*,IVS17+1G>A,IVS17+1G>T,R63*,IVS7+1G>A,C490Y,R605P
NM_017739.3 NGS
POMT1 9A200P,Y721*,W582C,A669T,G65R,R514*,Q590H,G76R,Q303*
NM_007171.3 NGS
POMT2 11Y666C,W748R,W647*,G482V,T184M,W748S,V373F,R413P,G353S,G726E,R638*
NM_013382.5 NGS
POU1F1 11E230K,F135C,W193R,R143Q,E250*,R271W,A158P,R172Q,P239S,R172*,K145*
NM_000306.2 NGS
POU3F4 7 L317W,R167*,R330S,K202*,R323G,A312V,K334E NM_000307.3 NGS
PPT1 7 D79G,R151*,L10*,T75P,169_170insA,R122W,G108R NM_000310.3 NGS
PRCD 2 C2Y,R22* NM_001077620.2 NGS
PRKRA 2 P222L,267_268delTA NM_003690.4 NGSPROM1 2 1841delG,Q576* NM_006017.2 NGS
PROP1 17
F88S,R120C,157delA,Q83*,IVS1+1G>T,112_124delTCGAGTGCTCCAC,R125W,F117I,150delA,301_302delAG,IVS2-11C>G,R73H,469_470insT,2T>C,310delC,R99*,R73C
NM_006261.4 NGS
PRPS1 8 A87T,D65N,I290T,G306R,L152P,Q133P,M115T,E43D NM_002764.3 NGS
PRX 8C715*,R1070*,D651N,2098delG,R196*,R953*,R368*,247delC
NM_181882.2 NGS
PSAP 7 1A>T,Q430*,C382F,C382G,L349P,C241S,N215H NM_002778.2 NGS
PSAT1 1 D100A NM_058179.2 NGS
PYGM 13
1827G>A,Y85*,1A>G,2128_2130delTTC,Y574*,E541*,W798R,R50*,G205S,K543T,E655K,A365V,R576*
NM_005609.2 NGS
62
RAB23 1 L145* NM_183227.1 NGS
RAB27A 5 W73G,Q118*,A87P,L130P,A152P NM_004580.4 NGS
RAB3GAP1 5 Y470*,W578*,IVS8+1G>A,I
VS10+1G>A,R671* NM_012233.2 NGS
RAB3GAP2 1 G1052C NM_012414.3 NGS
RAD51C 1 R258H NM_058216.1 NGS
RAG1 10R561H,R561C,C328Y,R314W,E722K,R776W,R778Q,E774*,R975W,Y938*
NM_000448.2 NGS
RAG2 4 G451A,T77N,R229Q,R39G NM_000536.3 NGS
RAPSN 6 A189V,R164C,N88K,L283P,E162K,Y269* NM_005055.4 NGS
RAX 3 Y303*,R192Q,Q147* NM_013435.2 NGS
RDH12 13
G127*,L99I,Q189*,806_810delCCCTG,H151N,A126V,H151D,S175P,R62*,T49M,T155I,Y226C,I51N
NM_152443.2 NGS
RDX 3 1405dupG,D578N,Q155* NM_002906.3 NGSRELN 1 IVS37-1G>A NM_005045.3 NGSREN 4 R230K,S135Y,R43*,R49* NM_000537.3 NGS
RGR 1 S66R NM_001012720.1 NGS
RHO 3 M207R,E249*,E150K NM_000539.3 NGSRLBP1 1 R234W NM_000326.4 NGS
RP2 7 R120*,453delC,305_306insT,R118L,R118H,Q26*,Y151* NM_006915.2 NGS
RPE65 11R234*,K303*,Y431C,1067delA,L341S,A132T,R515W,P363T,V452G,R91W,Y368H
NM_000329.2 NGS
RPGR 11
G60V,G275S,654_655delGA,T99N,F130C,G173R,173_174insA,674_675delCC,1433_1436delTGAC,P235S,846_847delAA
NM_001034853.1 NGS
RPGRIP1L 10Q253*,2269delA,S659P,T615P,K233*,R805*,Q684*,Q872*,Q345*,R132*
NM_015272.2 NGS
RYR1 17
P3527S,V4849I,M2423K,R109W,S3448F,IVS99-2A>T, 1739_1742dupATCA, 5726_5727delAG, H2035L, IVS59+1G>T, C3402G, E4494*, R3539H,M402T,S1778*,Y246*,R1469W
NM_000540.2 NGS
SACS 4 8844delT,R2502*,Q4054*,R3636Q NM_014363.4 NGS
63
SAG 5 R193*,R175*,926delA,R292*,E306* NM_000541.4 NGS
SBDS 7R218*,IVS2+1G>C,120delG,183_184delTAinsCT,R126T,IVS2+2T>C,R169C
NM_016038.2 NGS
SBF2 3 R487*,R1196*,Q959* NM_030962.3 NGSSC5DL 1 R29Q NM_006918.4 NGSSCNN1A 1 R508* NM_001038.5 NGSSCNN1B 1 G37S NM_000336.2 NGSSCNN1G 2 1627delG,IVS12-1G>A NM_001039.3 NGSSEMA4A 2 D345H,F350C NM_022367.3 NGS
SEPN1 6 W453S,G315S,U462G,R466Q,U462*,G273E NM_020451.2 NGS
SERPINA1 10D280V,I116N,S77F,R63C,P393S,G91E,L65P,E288V,E366K,G139S
NM_000295.4 NGS
SETX 7 L1976R,R1363*,R332W,Q868*,P2213L,R1294C,E343* NM_015046.5 NGS
SGCA 5 R98H,R77C,R284C,R192*,V247M NM_000023.2 NGS
SGCB 7 L108R,R91L,Y184*,T151R,S114F,R91P,M100K NM_000232.4 NGS
SGCG 2 E263K,C283Y NM_000231.2 NGS
SGSH 10R206P,R150Q,E447K,R433Q,R74C,R245H,E369K,S298P,S66W,P128L
NM_000199.3 NGS
SH2D1A 8 R32T,R55L,3G>T,P101L,385T>A,Q58*,T68I,R55* NM_002351.4 NGS
SH3TC2 20
R904*,Y169H,2491_2492delAG,1747_1748delAG,L661P,217_227delGCTGCTCGGAGinsCCAGTAA,R954*,W307*,E657K,R1109P,R658C,IVS5-2A>G,R1109*,Y943*,28delG,Q1201*,R529H,IVS10-1G>A,3341delC,2191delG
NM_024577.3 NGS
SIL1 3 R111*,L457P,Q438* NM_022464.4 NGSSLC12A1 3 D648N,V272F,W625* NM_000338.2 NGS
SLC12A6 5R207C,IVS18+1delG,R1011*,1584_1585delCTinsG,R675*
NM_133647.1 NGS
SLC17A5 5 P334R,H183R,Y306*,K136E,R39C NM_012434.4 NGS
SLC24A1 1 1613_1614delTT NM_004727.2 NGSSLC25A13 12 R605*,852_855delTATG,IV
S11+1G>A,IVS6+1G>C,Y600*,E601*,IVS6+5G>A,G531D,E601K,IVS13+1G>A,S225
NM_014251.2 NGS
64
*,R360*
SLC25A15 11G220R,R275Q,G27R,T272I,L71Q,R179*,M37R,T32R,E180K,562_564delTTC,G190D
NM_014252.3 NGS
SLC25A22 2 P206L,G236W NM_024698.5 NGS
SLC26A2 12
N425D,R178*,G678V,1020_1022delTGT,R279W,A715V,T512K,G255E,IVS1-26+2T>C,Q454P,1724delA,C653S
NM_000112.3 NGS
SLC26A4 18
V659L,G209V,T721M,R409H,E384G,L676Q,S90L,IVS15+5G>A,G197R,T416P,IVS7-2A>G,N392Y,916dupG,H723R,L236P,T410M,IVS8+1G>A,T94I
NM_000441.1 NGS
SLC26A5 3 W70*,R130S, -53-2A>G NM_198999.2 NGSSLC35A1 1 277_280delGTGCinsTG NM_006416.4 NGSSLC35C1 2 T308R,R147C NM_018389.4 NGSSLC35D1 3 W311*,T65P,R107* NM_015139.2 NGS
SLC37A4 91108_1109delCT,E377*,R28H,W118R,R437*,G361D,W96*,G361C,706_708delGTG
NM_001164278.1 NGS
SLC45A2 3 1121delT,986delC,D157N NM_016180.3 NGS
SLC4A11 14
S213P,M856V,R605*,L843P,353_356delAGAA,G464D,2240_2240+1insTATGACAC,R869C,R755Q,2233_2240dupTATGACAC,R488K,S489L,R869H,473_480delGCTTCGCC
NM_032034.3 NGS
SLC6A8 9
G132V,G381R,P544L,1222_1224delTTC,C337W,321_323delCTT,R514*,C491W,P554L
NM_005629.3 NGS
SLX4 5IVS5+3_1163+4insT,IVS5+2T>A,286delA,1093delC,514delC
NM_032444.2 NGS
SMN1 1 EX7 del NM_000344 Q-PCR
SMPD1 81829_1831delGCC,R443*,H423Y,R498L,M384I,996delC,L304P,L263*
NM_000543.4 NGS
SNAP29 1 487dupA NM_004782.3 NGS
SPG11 8
R2034*,733_734delAT,IVS39-1G>C,529_533delATATT,Q1875*,K825*,IVS2+1G>C,Q40*
NM_025137.3 NGS
SPG20 2 1110delA,364_365delAT NM_015087.4 NGS
65
SPG7 10
S692T,2216_2217insA,850_851delTTinsC,W583C,L78*,1742_1744delTGG,1617delC,784_785delGC,G349S,A510V
NM_003119.2 NGS
STAR 8R182H,R188C,R193*,R182L,W250*,R217T,V187M,Q258*
NM_000349.2 NGS
STIL 4 IVS15+1G>A,Q1239*,V1219*,L798V NM_003035.2 NGS
STRA6 12
R655C,W23*,277_278insCC,147delC,G304K,T644M,527_528insG,P293L,IVS16-1G>A,52_53delTAinsC,R655H,D560H
NM_022369.3 NGS
SUCLG1 3 IVS1+3G>C,152_153delAT,A209E NM_003849.3 NGS
SUOX 2 A265D,R217Q NM_000456.2 NGS
TAT 5 R57*,R417*,G362V,S223*,IVS2-5A>G NM_000353.2 NGS
TBCE 2 C371*,66_67delAG NM_003193.3 NGSTCAP 1 Q53* NM_003673.3 NGS
TCIRG1 4 C464*,G405R,IVS18+1G>A,R444L NM_006019.3 NGS
TECTA 3 651_652insC,IVS9+1G>A,6037delG NM_005422.2 NGS
TERT 3 R901W,P704S,R811C NM_198253.2 NGS
TFR2 14
L490R,M172K,Y250*,1861_1872delGCCGTGGCCCAG,IVS17-1G>A,88_89insC,G792R,1235_1237delACA,R105*,A444T,Q317*,1665delC,Q690P,R396*
NM_003227.3 NGS
TH 6 R202H,L205P,T463M,Q381K,R306H,T245P NM_000360.3 NGS
TIMM8A 3 Q38*,R80*,C66W NM_004085.3 NGS
TK2 5 T108M,H121N,R90C,I212N,I53M NM_004614.4 NGS
TMC1 4 M654V,R34*,C515R,R389* NM_138691.2 NGS
TMEM216 5 R73L,R73H,G77A,R85*,L114R
NM_001173990.2 NGS
TMEM67 11I833T,F590S,Q44*,M252T,Y513C,Q376P,R208*,C615R,G821R,G821S,W290L
NM_153704.5 NGS
TMIE 3 R81C,W57*,R84W NM_147196.2 NGS
TMPRSS3 4 R216L,W251C,P404L,208delC NM_024022.2 NGS
TNNT1 1 E180* NM_003283.4 NGS
66
TPP1 8R447H,N286S,IVS5-1G>C,C365Y,R208*,C365R,R206C,G284V
NM_000391.3 NGS
TPRN 2 W413*,1427delC NM_001128228.2 NGS
TREX1 2 R114H,R164* NM_033629.3 NGSTRIM32 3 1560delC,R394H,D487N NM_012210.3 NGS
TRIM37 14
2212delG,838_842delACTTT,C109S,1037_1040dupAGAT,S287N,G322V,R686*,L76P,R471*,855_860+2delTTTCAGGT,Q249*,1894_1895delGA,1346_1347insA,496_500delAGGAA
NM_015294.3 NGS
TRIOBP 6 R347*,R788*,R1117*,Q581*,Q297*,R1068*
NM_001039141.2 NGS
TSEN54 3 A307S,Q343*,Q246* NM_207346.2 NGS
TSFM 1 R333W NM_001172696.1 NGS
TSHB 3 Q69*,E32*,G49R NM_000549.3 NGS
TSHR 13
Q324*,A553T,C600R,C41S,I167N,P162A,D410N,W546*,C390W,F525L,R310C,R109Q,P68S
NM_000369.2 NGS
TULP1 8
R420P,1511_1521delTGCAGTTCGGC,F491L,IVS2+1G>A,I459K,R482W,E402*,R400W
NM_003322.3 NGS
TYR 30
N382K,C244*,1164delT,R217Q,V275F,T373K,1467dupT,C89R,W236*,G47D,1012_1013insC,R217W,C91Y,P81L,R403S,R422Q,P406L,G446S,G419R,1501dupC,R299H,572delG,C55Y,D383N,A206T,D448N,W178*,R77Q,1A>G,286dupA
NM_000372.4 NGS
TYRP1 6 R374*,S166*,L36*,1057_1060delAACA,R356Q,1103delA NM_000550.2 NGS
UBA1 3 M539I,S547G,1731C>T NM_003334.3 NGSUBR1 2 H136R,Q513* NM_174916.2 NGS
UGT1A1 5 V225G,R341*,L175Q,L15R,Q331* NM_000463.2 NGS
UQCRB 1 306_309delAAAA NM_006294.4 NGSUQCRQ 1 S45F NM_014402.4 NGSUSH1C 1 238_239insC NM_153676.3 NGSUSH1G 5 W38*,L48P,394_395insG,83
2_851delTCGGACGAGGACAGCGTCTC,186_187delC
NM_173477.2 NGS
67
A
USH2A 15
R4935*,L260*,2898delG,2299delG,Y1992C,C3267R,R737*,4338_4339delCT,R4192C,G3142*,C759F,W3955*,920_923dupGCCA,W2994*,C319Y
NM_206933.2 NGS
VDR 7 H305Q,G46D,V346M,R30*,Q152*,R80Q,Y295*
NM_001017535.1 NGS
VLDLR 3 R448*,R257*,2339delT NM_003383.3 NGSVPS13A 2 I90K,R208* NM_033305.2 NGSVPS33B 3 R532*,R438*,L30P NM_018668.3 NGS
WAS 11R86L,R86H,R34*,S82P,L270P,S272P,I294T,A56V,I481N,T45M,P58R
NM_000377.2 NGS
WDR62 5 Q470*,D511N,R438H,W224S,V65M
NM_001083961.1 NGS
WFS1 6 W648*,G695V,P724L,Q226*,P504L,Q819* NM_006005.3 NGS
WNT10A 5 C107*,R128Q,D217N,F228I,E233* NM_025216.2 NGS
WNT7A 3 G204S,R292C,A109T NM_004625.3 NGSXPA 4 R207*,C108F,Y116*,R228* NM_000380.3 NGS
ZFYVE26 4IVS28-1G>A,Q1808*,R1438*,Q493*
NM_015346.3 NGS
ZMPSTE24 81085_1086insT,54dupT,E239*,1085_1086insT,W340R,P248L,W450*,Q41*
NM_005857.4 NGS
ZNF469 1 E1392* NM_001127464.1 NGS
HBA1/HBA2 5 aa/-a3.7, aa/-a4.2, aa/-aSEA,
aa/-aFIL, aa/-aTHAINM_000558.3/ NM_000517.4
Gap-PCR+Electrophoresis
ABCD1
12
N148S,R464*,R401Q,R418W,R518W,1415_1416delAG,1552delC,E477*,E291K,G266R,P484R,R389G
NM_000033.3 NGS
RS1 3 E72Q,G74V,G109R NM_000330.3 NGS
IDUA 8 L346R,W402*,R619G,R89Q,1960T>G,R621*,Q70*,Y64* NM_000203.3 NGS
ABCA12 . . NM_173076.2 NGSCFH . . NM_000186.3 NGSFANCD2 . . NM_033084.3 NGSADAMTSL2 . . NM_001145320
.1 NGS
ESPN . . NM_031475.2 NGSHSPD1 . . NM_002156.4 NGS
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FKRP . . NM_001039885.2 NGS
GJA1 . . NM_000165.3 NGSCOL2A1 . . NM_001844.4 NGSGJC2 . . NM_020435.3 NGSSTRC . . NM_153700.2 NGS
TTN . . NM_001267550.1 NGS
MPZ . . NM_000530.6 NGSARL6 . . NM_032146.3 NGSCOL9A2 . . NM_001852.3 NGSCTDP1 . . NM_004715.4 NGSGCSH . . NM_004483.4 NGSGJB3 . . NM_024009.2 NGS
GJB6 . . NM_001110219.2 NGS
IGBP1 . . NM_001551.2 NGSPAX6 . . NM_000280.4 NGSPRODH . . NM_016335.4 NGSSIX6 . . NM_007374.2 NGSSNAI2 . . NM_003068.4 NGSTAF1 . . NM_004606.3 NGSHAL . . NM_002108.3 NGS
PDZD7 . . NM_001195263.1 NGS
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12
Table S5
Performance for variant detection in simulation for 3283 targeted pathogenic mutations
TP TN FP FN Sensitivity Specificity Accuracy
total 328854 328897 3 46 99,99% 100,00% 99,99%snp 275866 275897 3 34 99,99% 100,00% 99,99%ins 14096 14100 0 4 99,97% 100,00% 99,99%del 37293 37300 0 7 99,98% 100,00% 99,99%delins 1599 1600 0 1 99,94% 100,00% 99,97%*The simulation is based on pIRS Simulator which can simulate Illumina Paid-End reads with real error and quality distributions and coverage bias, and for each of 3289 targeted mutations, we simulate 100 cases and an average sequencing depth of 200X each case.
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