Supplemental Table S1: Descriptions of PECS Assay-Targeted Mutations

Supplemental Table S1: Descriptions of PECS Assay-Targeted Mutations.

Disease/Syndrome / Target Gene / Target Mutation / Target Mutation / Target Mutation
ABCC8-Related Hyperinsulinism / ABCC8 / c.560T>A p.V187D / c.3989-9G>A / c.4160_4162delTCT
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency / ACADM / c.127G>A p.E43K / c.250C>T p.L84F / c.447G>T p.M149I
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency / ACADM / c.583G>A p.G195R / c.616C>T p.R206C / c.617G>A p.R206H
Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency / ACADM / c.799G>A p.G267R / c.985A>G p.K329E
Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency / ACADS / c.319C>T p.R107C
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency / ACADVL / c.848T>C p.V283A
Ketothiolase Deficiency / ACAT1 / c.410_417delCTCAAAGT / c.444delGG / c.473A>G p.N158S
Glycogen Storage Disease Type III / AGL / c.16C>T p.Q6X / c.18_19delGA / c.1485delT
Glycogen Storage Disease Type III / AGL / c.2039G>A p.W680X / c.3682C>T p.R1228X / c.3965delT
Glycogen Storage Disease Type III / AGL / c.4260-12A>G / c.4456delT
Autoimmune Polyendocrine Syndrome Type I / AIRE / c.254A>G p.Y85C
Sjogren-Larsson Syndrome / ALDH3A2 / c.943C>T p.P315S
Hereditary Fructose Intolerance / ALDOB / c.360_363delCAAA / c.448G>C p.A150P / c.524C>A p.A175D
Hereditary Fructose Intolerance / ALDOB / c.612T>A p.Y204X / c.1005C>G p.N335K
Metachromatic Leukodystrophy (MLD) / ARSA / c.257G>A p.R86Q / c.293C>T p.S98F / c.465+1G>A
Metachromatic Leukodystrophy (MLD) / ARSA / c.542T>G p.I181S / c.641C>T p.A214V / c.769G>C p.D257H
Metachromatic Leukodystrophy (MLD) / ARSA / c.1055A>G p.N352S / c.1210+1G>A / c.1283C>T p.P428L
Metachromatic Leukodystrophy (MLD) / ARSA / c.1408_1418del11 / c.*96A>G
Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) / ARSB / c.629A>G p.Y210C / c.1143-1G>C / c.1143-8T>G
Argininosuccinate Lyase Deficiency / ASL / c.446+1G>A / c.505T>C p.W169R / c.544C>T p.R182X
Argininosuccinate Lyase Deficiency / ASL / c.557G>A p.R186Q
Canavan Disease / ASPA / c.433-2A>G / c.693C>A p.Y231X
(ACMG) / c.854A>C p.E285A
(ACMG)
Canavan Disease / ASPA / c.914C>A p.A305E
Citrullinemia Type 1 / ASS1 / c.421-2A>G / c.835C>T p.R279X / c.910C>T p.R304W
Citrullinemia Type 1 / ASS1 / c.1168G>A p.G390R
Ataxia-Telangiectasia / ATM / c.103C>T p.R35X
Wilson Disease / ATP7B / c.1340_1343delAAAC / c.2332C>G p.R778G / c.2336G>A p.W779X
Wilson Disease / ATP7B / c.2337G>A p.W779X / c.3207C>A p.H1069Q / c.3402delC
Maple Syrup Urine Disease (MSUD) Type 1A / BCKDHA / c.1312T>A p.Y438N
Maple Syrup Urine Disease (MSUD) Type 1B / BCKDHB / c.548G>C p.R183P / c.832G>A p.G278S / c.1114G>T p.E372X
Bloom Syndrome / BLM / c.2207_2212 del6ins7
(ACMG) / c.2407dupT
Biotinidase Deficiency / BTD / c.98_104 delGCGGCTGinsTCC / c.511G>A p.A171T / c.755A>G p.D252G
Biotinidase Deficiency / BTD / c.1330G>C p.D444H / c.1368A>C p.Q456H / c.1595C>T p.T532M
Biotinidase Deficiency / BTD / c.1612C>T p.R538C
Homocystinuria / CBS / c.162G>A p.W54X / c.325T>C p.C109R / c.833T>G p.I278S
Homocystinuria / CBS / c.919G>A p.G307S / c.969G>A p.W323X
Disease/Syndrome / Target Gene / Target Mutation / Target Mutation / Target Mutation
Cystic Fibrosis / CFTR / c.254G>A p.G85E
(ACMG) / c.350G>A p.R117H
(ACMG) / c.489+1G>T
(ACMG)
Cystic Fibrosis / CFTR / c.579+1G>T
(ACMG) / c.1000C>T p.R334W
(ACMG) / c.1040G>C p.R347P
(ACMG)
Cystic Fibrosis / CFTR / c.1364C>A p.A455E
(ACMG) / c.1519_1521delATC (ACMG) / c.1521_1523delCTT
deltaF508 (ACMG)
Cystic Fibrosis / CFTR / c.1585-1G>A
(ACMG) / c.1624G>T p.G542X
(ACMG) / c.1652G>A p.G551D
(ACMG)
Cystic Fibrosis / CFTR / c.1657C>T p.R553X
(ACMG) / c.1679G>C p.R560T
(ACMG) / c.1766+1G>A
(ACMG)
Cystic Fibrosis / CFTR / c.2052delA
(ACMG) / c.2657+5G>A
(ACMG) / c.2988+1G>A
(ACMG)
Cystic Fibrosis / CFTR / c.3484C>T p.R1162X
(ACMG) / c.3528delC
(ACMG) / c.3717+12191C>T
(ACMG)
Cystic Fibrosis / CFTR / c.3846G>A p.W1282X
(ACMG) / c.3909C>G p.N1303K
(ACMG)
Cystic Fibrosis / CFTR / c.178G>T p.E60X / c.223C>T p.R75X / c.262_263delTT
Cystic Fibrosis / CFTR / c.273+3A>C / c.274-1G>A / c.313delA
Cystic Fibrosis / CFTR / c.349C>T p.R117C / c.366T>A p.Y122X / c.532G>A p.G178R
Cystic Fibrosis / CFTR / c.617T>G p.L206W / c.803delA / c.948delT
Cystic Fibrosis / CFTR / c.988G>T p.G330X / c.1040G>A p.R347H / c.1055G>A p.R352Q
Cystic Fibrosis / CFTR / c.1090T>C p.S364P / c.1438G>T p.G480C / c.1477C>T p.Q493X
Cystic Fibrosis / CFTR / c.1516A>G p.I506V / c.1519A>G p.I507V / c.1523T>G p.F508C
Cystic Fibrosis / CFTR / c.1545_1546delTA / c.1558G>T p.V520F / c.1645A>C p.S549R
Cystic Fibrosis / CFTR / c.1646G>A p.S549N / c.1647T>G p.S549R / c.1675G>A p.A559T
Cystic Fibrosis / CFTR / c.1680-1G>A / c.1766+5G>T / c.1865G>A p.G622D
Cystic Fibrosis / CFTR / c.1923_1931 delCTCAAAACTinsA / c.2012delT / c.2051_2052delAAinsG
Cystic Fibrosis / CFTR / c.2052dupA / c.2128A>T p.K710X / c.2668C>T p.Q890X
Cystic Fibrosis / CFTR / c.2737_2738insG / c.2988G>A / c.3067_3072delATAGTG
Cystic Fibrosis / CFTR / c.3196C>T p.R1066C / c.3266G>A p.W1089X / c.3276C>A p.Y1092X
Cystic Fibrosis / CFTR / c.3276C>G p.Y1092X / c.3302T>A p.M1101K / c.3454G>C p.D1152H
Cystic Fibrosis / CFTR / c.3472C>T p.R1158X / c.3587C>G p.S1196X / c.3659delC
Cystic Fibrosis / CFTR / c.3744delA / c.3764C>A p.S1255X / c.3773dupT
Cystic Fibrosis / CFTR / del 21kb ex2-ex3
SRY Male Gender Marker Control Tiles / CONTROL / SRY Male Gender Marker Control 1 / SRY Male Gender Marker Control 2
Carnitine Palmitoyltransferase (CPT) IA Deficiency / CPT1A / c.1436C>T p.P479L / c.2129G>A p.G710E
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.149C>A p.P50H / c.338C>T p.S113L / c.359A>G p.Y120C
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.452G>A p.R151Q / c.520G>A p.E174K / c.641T>C p.M214T
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.680C>T p.P227L / c.983A>G p.D328G / c.1145G>A p.R382K
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.1148T>A p.F383Y / c.1239_1240delGA / c.1369A>T p.K457X
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.1507C>T p.R503C / c.1646G>A p.G549D / c.1737delC
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.1784delC / c.1883A>C p.Y628S / c.1891C>T p.R631C
Carnitine Palmitoyltransferase (CPT) II Deficiency / CPT2 / c.1925_1937del13
Disease/Syndrome / Target Gene / Target Mutation / Target Mutation / Target Mutation
Cystinosis / CTNS / c.18_21delGACT / c.382C>T p.Q128X / c.397A>T p.I133F
Cystinosis / CTNS / c.414G>A p.W138X / c.473T>C p.L158P / c.544T>C p.W182R
Cystinosis / CTNS / c.613G>A p.D205N / c.614_616delACG / c.922G>A p.G308R
Cystinosis / CTNS / del 57kb ex1-ex10
Maple Syrup Urine Disease / DBT / c.670G>T p.E224X
Smith-Lemli-Opitz Syndrome / DHCR7 / c.278C>T p.T93M / c.452G>A p.W151X / c.506C>T p.S169L
Smith-Lemli-Opitz Syndrome / DHCR7 / c.724C>T p.R242C / c.725G>A p.R242H / c.906C>G p.F302L
Smith-Lemli-Opitz Syndrome / DHCR7 / c.964-1G>C / c.976G>T p.V326L / c.1054C>T p.R352W
Smith-Lemli-Opitz Syndrome / DHCR7 / c.1055G>A p.R352Q / c.1210C>T p.R404C / c.1228G>A p.G410S
Smith-Lemli-Opitz Syndrome / DHCR7 / c.1342G>A p.E448K
Maple Syrup Urine Disease (MSUD) Type 3 aka DLD Def. / DLD / c.104dupA / c.685G>T p.G229C
Factor XI Deficiency / F11 / c.403G>T p.E135X / c.901T>C p.F301L / c.1714_1716+11del14
Factor XI Deficiency / F11 / c.1716+1G>A
Factor V Leiden Thrombophilia / F5 / c.1601G>A p.R534Q
Tyrosinemia Type I / FAH / c.782C>T p.P261L / c.786G>A p.W262X / c.1009G>A p.G337S
Tyrosinemia Type I / FAH / c.1062+5G>A
Fanconi Anemia Type C / FANCC / c.37C>T p.Q13X / c.67delG / c.456+4A>T
(ACMG)
Fanconi Anemia Type C / FANCC / c.1642C>T p.R548X
Fumarase Deficiency / FH / c.1431_1433dupAAA
Glycogen Storage Disease Type 1a / G6PC / c.79delC / c.247C>T p.R83C / c.248G>A p.R83H
Glycogen Storage Disease Type 1a / G6PC / c.379_380dupTA / c.562G>C p.G188R / c.648G>T
Glycogen Storage Disease Type 1a / G6PC / c.724C>T p.Q242X / c.809G>T p.G270V / c.980_982delTCT
Glycogen Storage Disease Type 1a / G6PC / c.1039C>T p.Q347X
Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency / G6PD / c.202G>A p.V68M / c.376A>G p.N126D / c.563C>T p.S188F
Pompe Disease / GAA / c.-32-13T>G
aka c.-45T>G / c.1935C>A p.D645E / c.2560C>T p.R854X
Krabbe Disease / GALC / c.857G>A p.G286D / c.1472delA / c.1586C>T p.T529M
Krabbe Disease / GALC / c.1700A>C p.Y567S / del ex11-ex17
Mucopolysaccharidosis Type IVA (Morquio Syndrome Type A) / GALNS / c.337A>T p.I113F / c.901G>T p.G301C / c.1156C>T p.R386C
Galactosemia / GALT / c.253-2A>G / c.404C>T p.S135L / c.413C>T p.T138M
Galactosemia / GALT / c.512T>C p.F171S / c.563A>G p.Q188R / c.584T>C p.L195P
Galactosemia / GALT / c.626A>G p.Y209C / c.855G>T p.K285N / del 5kb ex1-ex11
Gaucher disease / GBA / c.84dupG
(ACMG) / c.115+1G>A
(ACMG) / c.1226A>G p.N409S
(ACMG)
Gaucher disease / GBA / c.1263_1317del55 / c.1297G>T p.V433L / c.1342G>C p.D448H
Gaucher disease / GBA / c.1343A>T p.D448V / c.1448T>C p.L483P
(ACMG) / c.1504C>T p.R502C
Gaucher disease / GBA / c.1505G>A p.R502H / c.1604G>A p.R535H
Glutaric Acidemia I (GA I) / GCDH / c.1204C>T p.R402W / c.1262C>T p.A421V
GJB2-Related Nonsyndromic Hearing Loss / GJB2 / c.35delG / c.101T>C p.M34T / c.109G>A p.V37I
GJB2-Related Nonsyndromic Hearing Loss / GJB2 / c.167delT / c.416G>A p.S139N / c.427C>T p.R143W
Disease/Syndrome / Target Gene / Target Mutation / Target Mutation / Target Mutation
GJB6-Related Nonsyndromic Hearing Loss / GJB6 / del 342kb ex1-ex6
Fabry disease / GLA / c.335G>A p.R112H / c.337T>C p.F113L / c.644A>G p.N215S
Fabry disease / GLA / c.888G>A p.M296I / c.902G>A p.R301Q / c.982G>A p.G328R
Fabry disease / GLA / c.983G>C p.G328A
GM1 Gangliosidosis / Mucopolysaccharidosis Type IVB / GLB1 / c.176G>A p.R59H / c.602G>A p.R201H / c.1321G>A p.D441N
Inclusion Body Myopathy 2 / GNE / c.2135T>C p.M712T
Mucolipidosis Type II / III A / GNPTAB / c.3503_3504delTC
Mucopolysaccharidosis Type VII (Sly Syndrome) / GUSB / c.526C>T p.L176F / c.1069C>T p.R357X / c.1222C>T p.P408S
Mucopolysaccharidosis Type VII (Sly Syndrome) / GUSB / c.1244C>T p.P415L
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency / HADHA / c.1528G>C p.E510Q
Beta Thalassemia / Sickle Cell Disease / HBB / c.-138C>T / c.-137C>G / c.-79A>G
Beta Thalassemia / Sickle Cell Disease / HBB / c.-78A>G / c.19G>A p.E7K / c.20A>T p.E7V
Beta Thalassemia / Sickle Cell Disease / HBB / c.25_26delAA / c.27dupG / c.52A>T p.K18X
Beta Thalassemia / Sickle Cell Disease / HBB / c.59A>G p.N20S / c.75T>A p.G24G / c.79G>A p.E27K
Beta Thalassemia / Sickle Cell Disease / HBB / c.92+5G>C / c.92+6T>C / c.93-1G>A
Beta Thalassemia / Sickle Cell Disease / HBB / c.93-21G>A / c.118C>T p.Q40X / c.126_129delCTTT
Beta Thalassemia / Sickle Cell Disease / HBB / c.135delC / c.315+654C>T / c.315+745C>G
Beta Thalassemia / Sickle Cell Disease / HBB / c.316-2A>C / c.316-2A>G / c.316-1G>A
Beta Thalassemia / Sickle Cell Disease / HBB / c.364G>A p.E122K / c.364G>C p.E122Q / del 619bp
Tay Sachs disease / HEXA / c.533G>A p.R178H / c.739C>T p.R247W / c.745C>T p.R249W
Tay Sachs disease / HEXA / c.805G>A p.G269S
(ACMG) / c.805+1G>A / c.1073+1G>A
Tay Sachs disease / HEXA / c.1274_1277dupTATC
(ACMG) / c.1421+1G>C
(ACMG) / del 7.6kb pro-ex1
Sandhoff Disease / HEXB / c.850C>T p.R284X
HFE-Associated Hereditary Hemochromatosis / HFE / c.187C>G p.H63D / c.845G>A p.C282Y
Mucopolysaccharidosis Type II (Hunter Syndrome) / IDS / c.240+1G>A / c.1011G>A p.W337X / c.1402C>T p.R468W
Mucopolysaccharidosis I / Hurler Syndrome / IDUA / c.192C>A p.Y64X / c.208C>T p.Q70X / c.979G>C p.A327P
Mucopolysaccharidosis I / Hurler Syndrome / IDUA / c.1205G>A p.W402X
Familial Dysautonomia / IKBKAP / c.2087G>C p.R696P
(ACMG) / c.2204+6T>C
(ACMG)
Isovaleric Acidemia / IVD / c.941C>T p.A314V
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related / LAMB3 / c.124C>T p.R42X / c.727C>T p.Q243X / c.957ins77
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related / LAMB3 / c.1903C>T p.R635X
Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related / LAMC2 / c.283C>T p.R95X
Alpha-Mannosidosis / MAN2B1 / c.1780C>T p.Q594X / c.1858dupA / c.2248C>T p.R750W
Mucolipidosis IV / MCOLN1 / c.406-2A>G
(ACMG) / del 6.4kb ex1-ex7
(ACMG)
Familial Mediterranean Fever / MEFV / c.1105C>T p.P369S / c.1223G>A p.R408Q / c.1958G>A p.R653H
Familial Mediterranean Fever / MEFV / c.2040G>A p.M680I / c.2040G>C p.M680I / c.2076_2078delAAT
Familial Mediterranean Fever / MEFV / c.2080A>G p.M694V / c.2082G>A p.M694I / c.2084A>G p.K695R
Familial Mediterranean Fever / MEFV / c.2177T>C p.V726A / c.2230G>T p.A744S / c.2282G>A p.R761H
Disease/Syndrome / Target Gene / Target Mutation / Target Mutation / Target Mutation
Methylmalonic Acidemia, MMAA-Related (MMA) / MMAA / c.433C>T p.R145X
Methylmalonic Acidemia, MMAB-Related (MMA) / MMAB / c.197-1G>T / c.557G>A p.R186Q
Methylmalonic Aciduria, clbC Type (MMA) / MMACHC / c.271dupA
Congenital Disorder of Glycosylation Type Ib / MPI / c.884G>A p.R295H
Methylmalonic Acidemia, MUT-Related (MMA) / MUT / c.655A>T p.N219Y / c.682C>T p.R228X / c.693C>G p.Y231X
Methylmalonic Acidemia, MUT-Related (MMA) / MUT / c.1207C>T p.R403X / c.1399C>T p.R469X / c.1420C>T p.R474X
Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) / NAGLU / c.237ins24 / c.245G>A p.G82D / c.384-1G>A
Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) / NAGLU / c.503G>A p.W168X / c.889C>T p.R297X / c.944dupA
Mucopolysaccharidosis Type IIIB (Sanfilippo Syndrome Type B) / NAGLU / c.1558C>T p.R520W
Nijmegen Breakage Syndrome / NBN / c.657_661delACAAA
Nemaline Myopathy / NEB / del 2.5kb ex55
Niemann-Pick Disease Type C / NPC1 / c.1628C>T p.P543L / c.2072C>T p.P691L / c.2972_2973delAG
Niemann-Pick Disease Type C / NPC1 / c.3182T>C p.I1061T
Ornithine Transcarbamylase (OTC) Deficiency / OTC / c.174G>A p.W58X / c.421C>T p.R141X
Phenylketonuria (PKU) / PAH / c.60+5G>T / c.143T>C p.L48S / c.194T>C p.I65T
Phenylketonuria (PKU) / PAH / c.473G>A p.R158Q / c.754C>T p.R252W / c.782G>A p.R261Q
Phenylketonuria (PKU) / PAH / c.814G>T p.G272X / c.838G>A p.E280K / c.842C>T p.P281L
Phenylketonuria (PKU) / PAH / c.896T>G p.F299C / c.1042C>G p.L348V / c.1045T>C p.S349P
Phenylketonuria (PKU) / PAH / c.1066-11G>A / c.1208C>T p.A403V / c.1222C>T p.R408W
Phenylketonuria (PKU) / PAH / c.1223G>A p.R408Q / c.1241A>G p.Y414C / c.1315+1 G>A
Usher Syndrome Type IF / PCDH15 / c.733C>T p.R245X
Zellweger Syndrome (Infantile Refsum Disease) / PEX1 / c.2097dupT / c.2528G>A p.G843D
Rhizomelic Chondrodysplasia Punctata Type 1 / PEX7 / c.649G>A p.G217R / c.653C>T p.A218V / c.875T>A p.L292X
Rhizomelic Chondrodysplasia Punctata Type 1 / PEX7 / c.903+1G>C
Autosomal Recessive Polycystic Kidney Disease / PKHD1 / c.107C>T p.T36M / c.1486C>T p.R496X / c.5895dupA
Autosomal Recessive Polycystic Kidney Disease / PKHD1 / c.9689delA / c.10412T>G p.V3471G
Congenital Disorder of Glycosylation Type Ia / PMM2 / c.338C>T p.P113L / c.357C>A p.F119L / c.422G>A p.R141H
Congenital Disorder of Glycosylation Type Ia / PMM2 / c.691G>A p.V231M
Muscle-Eye-Brain Disease / POMGNT1 / c.1539+1G>A
McArdle Disease (GSD V) / PYGM / c.148C>T p.R50X / c.613G>A p.G205S / c.1627A>T p.K543X
McArdle Disease (GSD V) / PYGM / c.1628A>C p.K543T / c.2262delA
Cartilage-Hair Hypoplasia / RMRP / r.70A>G / r.262G>T
Alpha-1 Antitrypsin Deficiency / SERPINA1 / c.863A>T p.E288V / c.1096G>A p.E366K
Mucopolysaccharidosis Type IIIA
(Sanfilippo Syndrome Type A) / SGSH / c.197C>G p.S66W / c.220C>T p.R74C / c.364G>A p.G122R
Mucopolysaccharidosis Type IIIA
(Sanfilippo Syndrome Type A) / SGSH / c.734G>A p.R245H / c.877C>T p.P293S / c.892T>C p.S298P
Mucopolysaccharidosis Type IIIA
(Sanfilippo Syndrome Type A) / SGSH / c.1080delC
Carnitine Deficiency (Carnitine Uptake Defect) / SLC22A5 / c.136C>T p.P46S / c.424G>T p.A142S / c.1463G>A p.R488H
Sulfate Transporter-Related Osteochondrodysplasia / SLC26A2 / c.-26+2T>C / c.532C>T p.R178X / c.835C>T p.R279W
Sulfate Transporter-Related Osteochondrodysplasia / SLC26A2 / c.1957T>A p.C653S