| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 7-142655008-G-C | KEL | c.578C>G | p.Thr193Arg | Missense | 6/19 | - |
| 7-142655008-G-A | KEL | c.578C>T | p.Thr193Met | Missense | 6/19 | - |
| 17-39023053-A-G | KRT12 | c.386T>C | p.Met129Thr | Missense | 1/8 | - |
| 12-14982352-G-C | ART4 | c.898C>G | p.Leu300Val | Missense | 3/3 | - |
| 13-32911295-G-A | BRCA2 | c.2803G>A | p.Asp935Asn | Missense | 11/27 | - |
| 4-100260789-T-A | ADH1C | c.1048A>T | p.Ile350Phe | Missense | 8/9 | - |
| 11-74168361-C-T | KCNE3 | c.248G>A | p.Arg83His | Missense | 3/3 | - |
| 8-31024654-T-C | WRN | c.4099T>C | p.Cys1367Arg | Missense | 34/35 | - |
| 1-94496053-G-A | ABCA4 | c.4283C>T | p.Thr1428Met | Missense | 29/50 | - |
| 17-41258504-A-T | BRCA1 | c.181T>A | p.Cys61Ser | Missense | 4/23 | - |
| 18-58039248-G-A | MC4R | c.335C>T | p.Thr112Met | Missense | 1/1 | - |
| 16-89874756-G-A | FANCA | c.542C>T | p.Ala181Val | Missense | 6/43 | - |
| 17-41243840-A-G | BRCA1 | c.3708T>C | p.Asn1236Asn | Synonymous | 10/23 | - |
| 17-41243840-A-C | BRCA1 | c.3708T>G | p.Asn1236Lys | Missense | 10/23 | - |
| 6-121768420-G-A | GJA1 | c.427G>A | p.Gly143Ser | Missense | 2/2 | - |
| 3-121980562-G-T | CASR | c.680G>T | p.Arg227Leu | Missense | 4/7 | - |
| 4-4861877-A-G | MSX1 | c.251A>G | p.Glu84Gly | Missense | 1/2 | - |
| 4-4861877-A-T | MSX1 | c.251A>T | p.Glu84Val | Missense | 1/2 | - |
| 21-44480590-C-T | CBS | c.1106G>A | p.Arg369His | Missense | 12/17 | - |
| 1-24122692-G-A | GALE | c.937C>T | p.Leu313Leu | Synonymous | 11/12 | - |
| 22-42525821-G-T | CYP2D6 | c.271C>A | p.Leu91Met | Missense | 2/9 | - |
| 3-10183725-C-T | VHL | c.194C>T | p.Ser65Leu | Missense | 1/3 | - |
| 3-10183725-C-G | VHL | c.194C>G | p.Ser65Trp | Missense | 1/3 | - |
| 3-10183725-C-A | VHL | c.194C>A | p.Ser65* | Nonsense | 1/3 | - |
| 6-78172750-A-C | HTR1B | c.371T>G | p.Phe124Cys | Missense | 1/1 | - |
| 19-5844367-C-T | FUT3 | c.484G>A | p.Asp162Asn | Missense | 3/3 | - |
| 19-17945696-C-T | JAK3 | c.2164G>A | p.Val722Ile | Missense | 16/24 | - |
| 11-2591882-G-C | KCNQ1 | c.502G>C | p.Gly168Arg | Missense | 3/16 | - |
| 4-1806638-G-T | FGFR3 | c.1354G>T | p.Ala452Ser | Missense | 10/18 | - |
| 4-1806638-G-C | FGFR3 | c.1354G>C | p.Ala452Pro | Missense | 10/18 | - |
| 12-58145431-G-T | CDK4 | c.70C>A | p.Arg24Ser | Missense | 2/8 | - |
| 12-121176971-C-T | ACADS | c.1058C>T | p.Ser353Leu | Missense | 9/10 | - |
| 7-99358459-G-A | CYP3A4 | c.1396C>T | p.Pro466Ser | Missense | 12/13 | - |
| 8-143956693-G-T | CYP11B1 | c.1157C>A | p.Ala386Glu | Missense | 7/9 | - |
| 8-143956693-G-A | CYP11B1 | c.1157C>T | p.Ala386Val | Missense | 7/9 | - |
| 15-48773971-T-C | FBN1 | c.3845A>G | p.Asn1282Ser | Missense | 32/66 | - |
| 3-10191540-T-A | VHL | c.533T>A | p.Leu178Gln | Missense | 3/3 | - |
| 3-10191540-T-G | VHL | c.533T>G | p.Leu178Arg | Missense | 3/3 | - |
| 1-171303690-T-C | FMO4 | c.968T>C | p.Val323Ala | Missense | 8/10 | - |
| 16-89985940-G-C | MC1R | c.274G>C | p.Val92Leu | Missense | 1/1 | - |
| 1-25747230-G-A | RHCE | c.48C>T | p.Cys16Cys | Synonymous | 1/10 | - |
| 6-52617738-G-A | GSTA2 | c.328C>T | p.Pro110Ser | Missense | 5/7 | - |
| 12-103246708-G-A | PAH | c.727C>T | p.Arg243* | Nonsense | 7/13 | - |
| 5-179740827-T-C | GFPT2 | c.1411A>G | p.Ile471Val | Missense | 14/19 | - |
| 5-131411460-T-C | CSF2 | c.350T>C | p.Ile117Thr | Missense | 4/4 | - |
| 4-4861991-G-A | MSX1 | c.365G>A | p.Gly122Glu | Missense | 1/2 | - |
| 1-155261649-C-T | PKLR | c.1516G>A | p.Val506Ile | Missense | 10/11 | - |
| 17-54671687-C-T | NOG | c.103C>T | p.Pro35Ser | Missense | 1/1 | - |
| 11-2799220-C-T | KCNQ1 | c.1747C>T | p.Arg583Cys | Missense | 15/16 | - |
| 3-160803746-T-G | B3GALNT1 | c.797A>C | p.Glu266Ala | Missense | 6/6 | - |
| 2-85779042-C-G | GGCX | c.1502G>C | p.Trp501Ser | Missense | 11/15 | - |
| 3-129252553-C-T | RHO | c.1039C>T | p.Pro347Ser | Missense | 5/5 | - |
| 4-4861991-G-T | MSX1 | c.365G>T | p.Gly122Val | Missense | 1/2 | - |
| 3-183861899-T-C | EIF2B5 | c.1882T>C | p.Trp628Arg | Missense | 14/16 | - |
| 22-50964236-G-T | TYMP | c.1412C>A | p.Ser471* | Nonsense | 10/10 | - |
| 22-50964236-G-C | TYMP | c.1412C>G | p.Ser471Trp | Missense | 10/10 | - |
| 6-46679303-A-G | PLA2G7 | c.593T>C | p.Ile198Thr | Missense | 7/12 | - |
| 12-103246653-C-G | PAH | c.782G>C | p.Arg261Pro | Missense | 7/13 | - |
| 12-103246653-C-A | PAH | c.782G>T | p.Arg261Leu | Missense | 7/13 | - |
| 12-103246653-C-T | PAH | c.782G>A | p.Arg261Gln | Missense | 7/13 | - |
| 10-96541615-C-T | CYP2C19 | c.680C>T | p.Pro227Leu | Missense | 5/9 | - |
| 13-77574715-G-A | CLN5 | c.688G>A | - | missense_variant | 4/4 | - |
| 2-47630353-C-T | MSH2 | c.23C>T | p.Thr8Met | Missense | 1/16 | - |
| 2-47630353-C-G | MSH2 | c.23C>G | p.Thr8Arg | Missense | 1/16 | - |
| 16-67470018-C-T | HSD11B2 | c.637C>T | p.Arg213Cys | Missense | 3/5 | - |
| 16-67470018-C-A | HSD11B2 | c.637C>A | p.Arg213Ser | Missense | 3/5 | - |
| 3-10191540-T-C | VHL | c.533T>C | p.Leu178Pro | Missense | 3/3 | - |
| 16-3293310-A-T | MEFV | c.2177T>A | p.Val726Asp | Missense | 10/10 | - |
| 12-103306594-A-G | PAH | c.143T>C | p.Leu48Ser | Missense | 2/13 | - |
| 13-32907129-T-C | BRCA2 | c.1514T>C | p.Ile505Thr | Missense | 10/27 | - |
| 9-98997810-C-T | HSD17B3 | c.865G>A | p.Gly289Ser | Missense | 11/11 | - |
| 9-98997810-C-G | HSD17B3 | c.865G>C | p.Gly289Arg | Missense | 11/11 | - |
| 9-98997810-C-A | HSD17B3 | c.865G>T | p.Gly289Cys | Missense | 11/11 | - |
| 13-32913077-G-A | BRCA2 | c.4585G>A | p.Gly1529Arg | Missense | 11/27 | - |
| 1-171080080-G-A | FMO3 | c.769G>A | p.Val257Met | Missense | 6/9 | - |
| 3-10191506-C-T | VHL | c.499C>T | p.Arg167Trp | Missense | 3/3 | - |
| 1-27239920-C-G | NR0B2 | c.512G>C | p.Gly171Ala | Missense | 1/2 | - |
| 11-73717343-G-A | UCP3 | c.208C>T | p.Arg70Trp | Missense | 3/7 | - |
| 1-171176912-T-C | FMO2 | c.1239T>C | p.Asn413Asn | Synonymous | 8/9 | - |
| 11-66618389-C-A | PC | c.2229G>T | p.Met743Ile | Missense | 18/23 | - |
| 2-38302350-C-T | CYP1B1 | c.182G>A | p.Gly61Glu | Missense | 2/3 | - |
| 6-26091582-A-C | HFE | c.381A>C | p.Gln127His | Missense | 3/6 | - |
| 17-41245071-G-T | BRCA1 | c.2477C>A | p.Thr826Lys | Missense | 10/23 | - |
| 12-109017898-C-T | SELPLG | c.234G>A | p.Met78Ile | Missense | 2/2 | - |
| 1-171176912-T-A | FMO2 | c.1239T>A | p.Asn413Lys | Missense | 8/9 | - |
| 1-171176912-T-G | FMO2 | c.1239T>G | p.Asn413Lys | Missense | 8/9 | - |
| 2-49190614-G-A | FSHR | c.1346C>T | p.Thr449Ile | Missense | 10/10 | - |
| 2-49190614-G-T | FSHR | c.1346C>A | p.Thr449Asn | Missense | 10/10 | - |
| 1-20915701-A-C | CDA | c.79A>C | p.Lys27Gln | Missense | 1/4 | - |
| 10-72358804-G-A | PRF1 | c.673C>T | p.Arg225Trp | Missense | 3/3 | - |
| 12-121416864-C-T | HNF1A | c.293C>T | p.Ala98Val | Missense | 1/10 | - |
| 11-108159732-C-T | ATM | c.4138C>T | p.His1380Tyr | Missense | 28/63 | - |
| 1-94463617-C-T | ABCA4 | c.6529G>A | p.Asp2177Asn | Missense | 48/50 | - |
| 2-208992950-G-A | CRYGC | c.502C>T | p.Arg168Trp | Missense | 3/3 | - |
| 15-48756146-C-G | FBN1 | c.5015G>C | p.Cys1672Ser | Missense | 41/66 | - |
| 15-48756146-C-A | FBN1 | c.5015G>T | p.Cys1672Phe | Missense | 41/66 | - |
| 14-36986962-G-T | NKX2-1 | c.637C>A | p.Arg213Ser | Missense | 2/2 | - |
| 15-48756146-C-T | FBN1 | c.5015G>A | p.Cys1672Tyr | Missense | 41/66 | - |
| 11-32450067-G-T | WT1 | c.760C>A | - | missense_variant | 2/9 | - |
| 11-32450067-G-A | WT1 | c.760C>T | - | missense_variant | 2/9 | - |
| 13-110435231-C-T | IRS2 | c.3170G>A | p.Gly1057Asp | Missense | 1/2 | - |
| 1-25747230-G-C | RHCE | c.48C>G | p.Cys16Trp | Missense | 1/10 | - |
| 3-10183781-G-T | VHL | c.250G>T | p.Val84Leu | Missense | 1/3 | - |
| 3-10183781-G-C | VHL | c.250G>C | p.Val84Leu | Missense | 1/3 | - |
| 15-72643548-C-T | HEXA | c.598G>A | p.Val200Met | Missense | 6/14 | - |
| 4-6303248-G-T | WFS1 | c.1726G>T | p.Gly576Cys | Missense | 8/8 | - |
| 20-4680521-G-A | PRNP | c.655G>A | p.Glu219Lys | Missense | 2/2 | - |
| 19-41597751-C-A | CYP2A13 | c.769C>A | p.Arg257Ser | Missense | 5/9 | - |
| 17-19812541-T-C | AKAP10 | c.1936A>G | p.Ile646Val | Missense | 14/15 | - |
| 11-88911737-G-A | TYR | c.616G>A | p.Ala206Thr | Missense | 1/5 | - |
| 3-195800811-C-T | TFRC | c.424G>A | p.Gly142Ser | Missense | 4/19 | - |
| 12-52824351-C-T | KRT75 | c.1009G>A | p.Glu337Lys | Missense | 5/9 | - |
| 7-99361626-A-G | CYP3A4 | c.875T>C | p.Leu292Pro | Missense | 10/13 | - |
| 11-108138045-C-A | ATM | c.2614C>A | p.Pro872Thr | Missense | 17/63 | - |
| X-100653551-A-G | GLA | c.806T>C | p.Val269Ala | Missense | 6/7 | - |
| 1-171251196-A-G | FMO1 | c.907A>G | p.Ile303Val | Missense | 7/9 | - |
| 11-76867950-G-A | MYO7A | c.635G>A | p.Arg212His | Missense | 7/49 | - |
| 4-996555-G-C | IDUA | c.1225G>C | p.Gly409Arg | Missense | 9/14 | - |
| 3-38648200-C-A | SCN5A | c.1100G>T | p.Arg367Leu | Missense | 9/28 | - |
| 13-32914592-C-T | BRCA2 | c.6100C>T | p.Arg2034Cys | Missense | 11/27 | - |
| 13-32914592-C-A | BRCA2 | c.6100C>A | p.Arg2034Ser | Missense | 11/27 | - |
| 17-42335888-G-T | SLC4A1 | c.980C>A | p.Pro327His | Missense | 10/20 | - |
| 17-42335888-G-C | SLC4A1 | c.980C>G | p.Pro327Arg | Missense | 10/20 | - |
| 17-42335888-G-A | SLC4A1 | c.980C>T | p.Pro327Leu | Missense | 10/20 | - |
| 3-46414573-G-T | CCR5 | c.180G>T | p.Arg60Ser | Missense | 3/3 | - |
| 3-129251195-A-C | RHO | c.632A>C | p.His211Pro | Missense | 3/5 | - |
| 1-53675866-G-A | CPT2 | c.520G>A | p.Glu174Lys | Missense | 4/5 | - |
| 2-20205639-G-T | MATN3 | c.656C>A | p.Ala219Asp | Missense | 2/8 | - |
| X-100653374-C-G | GLA | c.983G>C | p.Gly328Ala | Missense | 6/7 | - |
| 1-171168545-T-C | FMO2 | c.545T>C | p.Phe182Ser | Missense | 5/9 | - |
| 1-115236057-G-T | AMPD1 | c.133C>A | p.Gln45Lys | Missense | 2/16 | - |
| 19-5844184-C-T | FUT3 | c.667G>A | p.Gly223Arg | Missense | 3/3 | - |
| 1-115236057-G-A | AMPD1 | c.133C>T | p.Gln45* | Nonsense | 2/16 | - |
| 20-47570114-G-A | ARFGEF2 | c.625G>A | p.Glu209Lys | Missense | 6/39 | - |
| 12-58157952-G-A | CYP27B1 | c.1144C>T | p.Pro382Ser | Missense | 7/9 | - |
| X-53459034-G-A | HSD17B10 | c.388C>T | p.Arg130Cys | Missense | 4/6 | - |
| 3-170732328-C-G | SLC2A2 | c.301G>C | p.Val101Leu | Missense | 3/11 | - |
| 11-68174189-G-A | LRP5 | c.1999G>A | p.Val667Met | Missense | 9/23 | - |
| 11-68174189-G-C | LRP5 | c.1999G>C | p.Val667Leu | Missense | 9/23 | - |
| 11-2610034-C-T | KCNQ1 | c.1343C>T | p.Pro448Leu | Missense | 10/16 | - |
| 11-2610034-C-G | KCNQ1 | c.1343C>G | p.Pro448Arg | Missense | 10/16 | - |
| 11-2610034-C-A | KCNQ1 | c.1343C>A | p.Pro448Gln | Missense | 10/16 | - |
| X-20173553-C-T | RPS6KA3 | c.2186G>A | p.Arg729Gln | Missense | 22/22 | - |
| 1-94461717-C-A | ABCA4 | c.6764G>T | p.Ser2255Ile | Missense | 49/50 | - |
| 12-116457651-T-C | MED13L | c.752A>G | p.Glu251Gly | Missense | 6/31 | - |
| 12-52309891-C-A | ACVRL1 | c.1120C>A | p.Arg374Arg | Synonymous | 8/10 | - |
| X-153297737-G-C | MECP2 | c.298C>G | p.Leu100Val | Missense | 3/4 | - |
| 12-116413092-C-T | MED13L | c.5615G>A | p.Arg1872His | Missense | 25/31 | - |
| 12-103246593-G-A | PAH | c.842C>T | p.Pro281Leu | Missense | 7/13 | - |
| 12-4479730-G-T | FGF23 | c.535C>A | p.Arg179Arg | Synonymous | 3/3 | - |
| 17-76867017-C-T | TIMP2 | c.303G>A | p.Ser101Ser | Synonymous | 3/5 | - |
| 12-4479730-G-A | FGF23 | c.535C>T | p.Arg179Trp | Missense | 3/3 | - |
| 14-25101589-G-C | GZMB | c.280C>G | p.Pro94Ala | Missense | 3/5 | - |
| 1-94476467-T-A | ABCA4 | c.5603A>T | p.Asn1868Ile | Missense | 40/50 | - |
| 16-3299468-C-A | MEFV | c.1223G>T | p.Arg408Leu | Missense | 3/10 | - |
| X-153297719-G-C | MECP2 | c.316C>G | p.Arg106Gly | Missense | 3/4 | - |
| 3-10183785-T-C | VHL | c.254T>C | p.Leu85Pro | Missense | 1/3 | - |
| 8-143961102-C-T | CYP11B1 | c.128G>A | p.Arg43Gln | Missense | 1/9 | - |
| 4-6303668-G-A | WFS1 | c.2146G>A | p.Ala716Thr | Missense | 8/8 | - |
| 4-6303327-C-T | WFS1 | c.1805C>T | p.Ala602Val | Missense | 8/8 | - |
| 11-88911246-A-G | TYR | c.125A>G | p.Asp42Gly | Missense | 1/5 | - |
| 5-78135241-C-T | ARSB | c.1151G>A | p.Ser384Asn | Missense | 6/8 | - |
| X-48542363-C-T | WAS | c.121C>T | p.Arg41* | Nonsense | 1/12 | - |
| 17-41245027-G-A | BRCA1 | c.2521C>T | p.Arg841Trp | Missense | 10/23 | - |
| X-153763492-T-A | G6PD | c.466A>T | p.Asn156Tyr | Missense | 5/13 | - |
| 22-32445946-A-G | SLC5A1 | c.152A>G | p.Asn51Ser | Missense | 2/15 | - |
| 3-10191555-C-A | VHL | c.548C>A | p.Ser183* | Nonsense | 3/3 | - |
| 12-103234270-C-T | PAH | c.1223G>A | p.Arg408Gln | Missense | 12/13 | - |
| 1-94543389-C-T | ABCA4 | c.1411G>A | p.Glu471Lys | Missense | 11/50 | - |
| 17-42338084-C-T | SLC4A1 | c.268G>A | p.Glu90Lys | Missense | 5/20 | - |
| 12-5021221-C-T | KCNA1 | c.677C>T | p.Thr226Met | Missense | 2/2 | - |
| 11-59863104-A-G | MS4A2 | c.710A>G | p.Glu237Gly | Missense | 7/7 | - |
| 6-26091306-T-C | HFE | c.314T>C | p.Ile105Thr | Missense | 2/6 | - |
| 14-25100282-A-G | GZMB | c.739T>C | p.Tyr247His | Missense | 5/5 | - |
| 3-129252554-C-G | RHO | c.1040C>G | p.Pro347Arg | Missense | 5/5 | - |
| 16-75513206-T-C | CHST6 | c.521A>G | p.Lys174Arg | Missense | 3/3 | - |
| 12-103248929-A-G | PAH | c.691T>C | p.Ser231Pro | Missense | 6/13 | - |
| 12-5021221-C-A | KCNA1 | c.677C>A | p.Thr226Lys | Missense | 2/2 | - |
| 16-75513128-A-C | CHST6 | c.599T>G | p.Leu200Arg | Missense | 3/3 | - |
| 19-18896906-T-C | COMP | c.1358A>G | p.Asn453Ser | Missense | 13/19 | - |
| 1-35250457-C-A | GJB3 | c.94C>A | p.Arg32Arg | Synonymous | 2/2 | - |
| 1-35250457-C-T | GJB3 | c.94C>T | p.Arg32Trp | Missense | 2/2 | - |
| 3-10191605-C-T | VHL | c.598C>T | p.Arg200Trp | Missense | 3/3 | - |
| 9-21970979-C-A | CDKN2A | c.379G>T | p.Ala127Ser | Missense | 2/3 | - |
| 22-50964236-G-A | TYMP | c.1412C>T | p.Ser471Leu | Missense | 10/10 | - |
| 11-108138045-C-T | ATM | c.2614C>T | p.Pro872Ser | Missense | 17/63 | - |
| 15-48905270-G-A | FBN1 | c.184C>T | p.Arg62Cys | Missense | 3/66 | - |
| 1-197396689-C-G | CRB1 | c.2234C>G | p.Thr745Arg | Missense | 7/12 | - |
| 7-117199643-C-A | CFTR | c.1518C>A | p.Ile506Ile | Synonymous | 11/27 | - |
| 11-2790111-C-T | KCNQ1 | c.1552C>T | p.Arg518* | Nonsense | 12/16 | - |
| 11-2790111-C-G | KCNQ1 | c.1552C>G | p.Arg518Gly | Missense | 12/16 | - |
| X-100653062-C-T | GLA | c.1025G>A | p.Arg342Gln | Missense | 7/7 | - |
| 1-197396689-C-T | CRB1 | c.2234C>T | p.Thr745Met | Missense | 7/12 | - |
| 3-10183739-G-T | VHL | c.208G>T | p.Glu70* | Nonsense | 1/3 | - |
| 1-156084887-C-T | LMNA | c.178C>T | p.Arg60Cys | Missense | 1/12 | - |
| 1-156084887-C-G | LMNA | c.178C>G | p.Arg60Gly | Missense | 1/12 | - |
| 19-36322601-T-C | NPHS1 | c.3230A>G | p.Asn1077Ser | Missense | 24/29 | - |
| X-100613318-T-C | BTK | c.1082A>G | p.Tyr361Cys | Missense | 12/19 | - |
| 10-43610119-G-T | RET | c.2071G>T | p.Gly691Cys | Missense | 11/20 | - |
| 10-43610119-G-C | RET | c.2071G>C | p.Gly691Arg | Missense | 11/20 | - |
| 4-6303680-A-C | WFS1 | c.2158A>C | p.Ile720Leu | Missense | 8/8 | - |
| 4-6303680-A-G | WFS1 | c.2158A>G | p.Ile720Val | Missense | 8/8 | - |
| 21-35821913-G-A | KCNE1 | c.20C>T | p.Thr7Ile | Missense | 4/4 | - |
| X-107834453-T-G | COL4A5 | c.1331T>G | p.Ile444Ser | Missense | 20/51 | - |
| 11-95569448-T-C | MTMR2 | c.1634A>G | p.Asn545Ser | Missense | 14/15 | - |
| 12-6127891-C-A | VWF | c.4693G>T | p.Val1565Leu | Missense | 28/52 | - |
| 17-41244429-C-T | BRCA1 | c.3119G>A | p.Ser1040Asn | Missense | 10/23 | - |
| X-100653378-G-T | GLA | c.979C>A | p.Gln327Lys | Missense | 6/7 | - |
| 3-138665314-A-C | FOXL2 | c.251T>G | p.Ile84Ser | Missense | 1/1 | - |
| 16-20360180-C-T | UMOD | c.443G>A | p.Cys148Tyr | Missense | 3/11 | - |
| 3-57232274-G-A | HESX1 | c.509C>T | p.Ser170Leu | Missense | 4/4 | - |
| 17-41244429-C-G | BRCA1 | c.3119G>C | p.Ser1040Thr | Missense | 10/23 | - |
| 13-20763380-T-C | GJB2 | c.341A>G | p.Glu114Gly | Missense | 2/2 | - |
| 1-156104620-C-T | LMNA | c.664C>T | p.His222Tyr | Missense | 4/12 | - |
| 2-211456617-A-G | CPS1 | c.1010A>G | - | missense_variant | 11/39 | - |
| 13-47466549-T-C | HTR2A | c.589A>G | p.Ile197Val | Missense | 3/4 | - |
| 11-67800614-C-T | NDUFS8 | c.236C>T | p.Pro79Leu | Missense | 5/7 | - |
| 16-89986546-G-A | MC1R | c.880G>A | p.Asp294Asn | Missense | 1/1 | - |
| 2-38298169-G-C | CYP1B1 | c.1328C>G | p.Ala443Gly | Missense | 3/3 | - |
| 2-38298169-G-A | CYP1B1 | c.1328C>T | p.Ala443Val | Missense | 3/3 | - |
| 2-227661921-C-G | IRS1 | c.1534G>C | p.Ala512Pro | Missense | 1/2 | - |
| 22-50962330-G-A | SCO2 | c.511C>T | p.Arg171Trp | Missense | 2/2 | - |
| 11-64577506-C-A | MEN1 | c.76G>T | p.Glu26* | Nonsense | 2/10 | - |
| 19-15302945-G-A | NOTCH3 | c.505C>T | p.Arg169Cys | Missense | 4/33 | - |
| 13-48919246-A-T | RB1 | c.411A>T | p.Glu137Asp | Missense | 4/27 | - |
| 19-5843784-A-C | FUT3 | c.1067T>G | p.Ile356Arg | Missense | 3/3 | - |
| 11-64577506-C-T | MEN1 | c.76G>A | p.Glu26Lys | Missense | 2/10 | - |
| 12-103288666-A-G | PAH | c.199T>C | p.Ser67Pro | Missense | 3/13 | - |
| 9-134381604-G-A | POMT1 | c.226G>A | p.Gly76Arg | Missense | 3/20 | - |
| 13-32968940-A-T | BRCA2 | c.9371A>T | p.Asn3124Ile | Missense | 25/27 | - |
| 18-58038829-C-T | MC4R | c.754G>A | p.Gly252Ser | Missense | 1/1 | - |
| 16-67470523-C-T | HSD11B2 | c.835C>T | p.Arg279Cys | Missense | 5/5 | - |
| 12-125348263-C-T | SCARB1 | c.4G>A | p.Gly2Ser | Missense | 1/13 | - |
| 4-996555-G-A | IDUA | c.1225G>A | p.Gly409Arg | Missense | 9/14 | - |
| 19-38990637-G-T | RYR1 | c.7304G>T | p.Arg2435Leu | Missense | 45/106 | - |
| 17-36099446-G-A | HNF1B | c.529C>T | p.Arg177* | Nonsense | 2/9 | - |
| 6-132172368-A-C | ENPP1 | c.517A>C | p.Lys173Gln | Missense | 4/25 | - |
| 13-32914132-T-G | BRCA2 | c.5640T>G | p.Asn1880Lys | Missense | 11/27 | - |
| 12-48526712-G-A | PFKM | c.299G>A | p.Arg100Gln | Missense | 5/23 | - |
| 18-58039221-A-G | MC4R | c.362T>C | p.Ile121Thr | Missense | 1/1 | - |
| 16-88876242-A-G | APRT | c.407T>C | p.Met136Thr | Missense | 5/5 | - |
| 3-129252554-C-T | RHO | c.1040C>T | p.Pro347Leu | Missense | 5/5 | - |
| 7-117307076-C-T | CFTR | c.4357C>T | p.Arg1453Trp | Missense | 27/27 | - |
| 12-121177150-C-T | ACADS | c.1138C>T | p.Arg380Trp | Missense | 10/10 | - |
| 7-117149147-G-T | CFTR | c.224G>T | p.Arg75Leu | Missense | 3/27 | - |
| 12-121177150-C-G | ACADS | c.1138C>G | p.Arg380Gly | Missense | 10/10 | - |
| 16-89833576-G-C | FANCA | c.2574C>G | p.Ser858Arg | Missense | 27/43 | - |
| 7-117149147-G-A | CFTR | c.224G>A | p.Arg75Gln | Missense | 3/27 | - |
| 4-6304014-G-C | WFS1 | c.2492G>C | p.Gly831Ala | Missense | 8/8 | - |
| 7-87079406-T-A | ABCB4 | c.711A>T | p.Ile237Ile | Synonymous | 8/28 | - |
| 12-58158293-C-T | CYP27B1 | c.1004G>A | p.Arg335Gln | Missense | 6/9 | - |
| 11-88911285-G-C | TYR | c.164G>C | p.Cys55Ser | Missense | 1/5 | - |
| 2-227662189-A-G | IRS1 | c.1266T>C | p.Asp422Asp | Synonymous | 1/2 | - |
| 1-98157332-G-A | DPYD | c.703C>T | p.Arg235Trp | Missense | 7/23 | - |
| 16-89869704-T-C | FANCA | c.755A>G | p.Asp252Gly | Missense | 8/43 | - |
| 5-131915673-G-A | RAD50 | c.671G>A | p.Arg224His | Missense | 5/25 | - |
| 11-88911285-G-A | TYR | c.164G>A | p.Cys55Tyr | Missense | 1/5 | - |
| 4-6304014-G-A | WFS1 | c.2492G>A | p.Gly831Asp | Missense | 8/8 | - |
| 2-176959342-C-T | HOXD13 | c.916C>T | p.Arg306Trp | Missense | 2/2 | - |
| 12-14018777-G-T | GRIN2B | c.366C>A | p.Pro122Pro | Synonymous | 2/13 | - |
| 21-35821838-C-T | KCNE1 | c.95G>A | p.Arg32His | Missense | 4/4 | - |
| 2-176959342-C-G | HOXD13 | c.916C>G | p.Arg306Gly | Missense | 2/2 | - |
| 1-161140257-A-C | PPOX | c.1046A>C | p.Asp349Ala | Missense | 10/13 | - |
| 1-171076888-G-T | FMO3 | c.394G>T | p.Asp132Tyr | Missense | 4/9 | - |
| X-2852911-G-A | ARSE | c.1732C>T | p.Pro578Ser | Missense | 11/11 | - |
| 5-121786403-C-G | SNCAIP | c.763C>G | p.Arg255Gly | Missense | 8/10 | - |
| 11-17415881-G-A | ABCC8 | c.4477C>T | p.Arg1493Trp | Missense | 37/39 | - |
| 12-9232351-C-T | A2M | c.2915G>A | p.Cys972Tyr | Missense | 24/36 | - |
| 11-639830-T-G | DRD4 | c.581T>G | p.Val194Gly | Missense | 3/4 | - |
| 5-121786403-C-T | SNCAIP | c.763C>T | p.Arg255Cys | Missense | 8/10 | - |
| 3-129247734-C-G | RHO | c.158C>G | p.Pro53Arg | Missense | 1/5 | - |
| 22-51065808-G-A | ARSA | c.251C>T | p.Pro84Leu | Missense | 2/8 | - |
| 18-58039494-G-A | MC4R | c.89C>T | p.Ser30Phe | Missense | 1/1 | - |
| 20-34021891-A-G | GDF5 | c.1322T>C | p.Leu441Pro | Missense | 2/2 | - |
| 12-81101832-G-T | MYF6 | c.334G>T | p.Ala112Ser | Missense | 1/3 | - |
| 8-18080001-G-C | NAT1 | c.445G>C | p.Val149Leu | Missense | 3/3 | - |
| 3-10191590-C-T | VHL | c.583C>T | p.Gln195* | Nonsense | 3/3 | - |
| 21-46309312-G-A | ITGB2 | c.1756C>T | p.Arg586Trp | Missense | 13/16 | - |
| 1-171076888-G-C | FMO3 | c.394G>C | p.Asp132His | Missense | 4/9 | - |
| 13-48955458-C-A | RB1 | c.1574C>A | p.Ala525Asp | Missense | 17/27 | - |
| 13-48955458-C-G | RB1 | c.1574C>G | p.Ala525Gly | Missense | 17/27 | - |
| 3-170716088-A-T | SLC2A2 | c.1268T>A | p.Val423Glu | Missense | 10/11 | - |
| 22-51063874-G-A | ARSA | c.1229C>T | p.Thr410Ile | Missense | 8/8 | - |
| 9-36217396-A-G | GNE | c.2135T>C | p.Met712Thr | Missense | 12/12 | - |
| 7-117180343-A-C | CFTR | c.1059A>C | p.Gln353His | Missense | 8/27 | - |
| X-100653467-G-A | GLA | c.890C>T | p.Ser297Phe | Missense | 6/7 | - |
| 7-117180343-A-G | CFTR | c.1059A>G | p.Gln353Gln | Synonymous | 8/27 | - |
| 17-41215920-G-C | BRCA1 | c.5123C>G | p.Ala1708Gly | Missense | 17/23 | - |
| 17-41215920-G-A | BRCA1 | c.5123C>T | p.Ala1708Val | Missense | 17/23 | - |
| 8-106814279-A-G | ZFPM2 | c.1969A>G | p.Ser657Gly | Missense | 8/8 | - |
| 1-35260769-C-T | GJA4 | c.955C>T | p.Pro319Ser | Missense | 2/2 | - |
| 14-35873756-C-T | NFKBIA | c.95G>A | p.Ser32Asn | Missense | 1/6 | - |
| 12-14018777-G-C | GRIN2B | c.366C>G | p.Pro122Pro | Synonymous | 2/13 | - |
| 19-15299815-A-G | NOTCH3 | c.1363T>C | p.Cys455Arg | Missense | 8/33 | - |
| 1-160105300-T-C | ATP1A2 | c.2192T>C | p.Met731Thr | Missense | 16/23 | - |
| 11-108160350-C-T | ATM | c.4258C>T | p.Leu1420Phe | Missense | 29/63 | - |
| 14-35873756-C-A | NFKBIA | c.95G>T | p.Ser32Ile | Missense | 1/6 | - |
| 7-117199641-A-G | CFTR | c.1516A>G | p.Ile506Val | Missense | 11/27 | - |
| 2-202072837-C-T | CASP10 | c.853C>T | p.Leu285Phe | Missense | 8/10 | - |
| 7-117199641-A-C | CFTR | c.1516A>C | p.Ile506Leu | Missense | 11/27 | - |
| X-153296815-A-C | MECP2 | c.464T>G | p.Phe155Cys | Missense | 4/4 | - |
| 17-7127707-G-A | ACADVL | c.1600G>A | p.Glu534Lys | Missense | 16/20 | - |
| 5-142780337-C-G | NR3C1 | c.68G>C | p.Arg23Thr | Missense | 2/9 | - |
| 16-89805301-G-C | FANCA | c.4249C>G | p.His1417Asp | Missense | 42/43 | - |
| 16-89805301-G-A | FANCA | c.4249C>T | p.His1417Tyr | Missense | 42/43 | - |
| 11-108124761-T-C | ATM | c.2119T>C | p.Ser707Pro | Missense | 13/63 | - |
| 12-110012685-C-A | MVK | c.58C>A | p.His20Asn | Missense | 2/11 | - |
| 19-38937350-G-C | RYR1 | c.742G>C | p.Gly248Arg | Missense | 9/106 | - |
| 11-2604765-C-G | KCNQ1 | c.1022C>G | p.Ala341Gly | Missense | 7/16 | - |
| 16-27373872-A-T | IL4R | c.1199A>T | p.Glu400Val | Missense | 11/11 | - |
| 13-32937521-G-A | BRCA2 | c.8182G>A | p.Val2728Ile | Missense | 18/27 | - |
| 13-32937521-G-C | BRCA2 | c.8182G>C | p.Val2728Leu | Missense | 18/27 | - |
| 15-52643564-G-A | MYO5A | c.3736C>T | p.Arg1246Cys | Missense | 28/41 | - |
| 3-129247749-C-G | RHO | c.173C>G | p.Thr58Arg | Missense | 1/5 | - |
| 3-38645249-C-T | SCN5A | c.1844G>A | p.Gly615Glu | Missense | 12/28 | - |
| 17-7578518-C-G | TP53 | c.412G>C | p.Ala138Pro | Missense | 5/11 | - |
| 10-81371729-C-G | SFTPA1 | c.148C>G | p.Leu50Val | Missense | 3/6 | - |
| 19-38990637-G-A | RYR1 | c.7304G>A | p.Arg2435His | Missense | 45/106 | - |
| 5-142780337-C-T | NR3C1 | c.68G>A | p.Arg23Lys | Missense | 2/9 | - |
| 12-110012685-C-T | MVK | c.58C>T | p.His20Tyr | Missense | 2/11 | - |
| 19-38937350-G-T | RYR1 | c.742G>T | p.Gly248Trp | Missense | 9/106 | - |
| 10-50678369-T-C | ERCC6 | c.3637A>G | p.Arg1213Gly | Missense | 18/21 | - |
| 16-27373872-A-G | IL4R | c.1199A>G | p.Glu400Gly | Missense | 11/11 | - |
| 17-7912879-C-T | GUCY2D | c.1724C>T | p.Pro575Leu | Missense | 8/20 | - |
| 9-136220748-C-T | SURF1 | c.371G>A | p.Gly124Glu | Missense | 5/9 | - |
| 1-153653757-G-C | NPR1 | c.1023G>C | p.Met341Ile | Missense | 3/22 | - |
| 3-129247749-C-T | RHO | c.173C>T | p.Thr58Met | Missense | 1/5 | - |
| 7-113518498-C-T | PPP1R3A | c.2649G>A | p.Arg883Arg | Synonymous | 4/4 | - |
| 3-10191532-C-G | VHL | c.525C>G | p.Tyr175* | Nonsense | 3/3 | - |
| X-37587260-T-C | XK | c.880T>C | p.Cys294Arg | Missense | 3/3 | - |
| X-153296815-A-G | MECP2 | c.464T>C | p.Phe155Ser | Missense | 4/4 | - |
| 3-10191578-C-G | VHL | c.571C>G | p.His191Asp | Missense | 3/3 | - |
| 22-42276825-G-A | SREBF2 | c.1867G>A | p.Val623Met | Missense | 10/19 | - |
| 2-176959390-A-G | HOXD13 | c.964A>G | p.Ile322Val | Missense | 2/2 | - |
| 6-31324895-G-T | HLA-B | c.41C>A | p.Ser14* | Nonsense | 1/8 | - |
| 6-31324895-G-C | HLA-B | c.41C>G | p.Ser14Trp | Missense | 1/8 | - |
| 2-176959390-A-C | HOXD13 | c.964A>C | p.Ile322Leu | Missense | 2/2 | - |
| 3-10188201-A-G | VHL | c.344A>G | p.His115Arg | Missense | 2/3 | - |
| 17-41244000-T-A | BRCA1 | c.3548A>T | p.Lys1183Ile | Missense | 10/23 | - |
| 3-10188201-A-C | VHL | c.344A>C | p.His115Pro | Missense | 2/3 | - |
| 1-226016558-G-C | EPHX1 | c.128G>C | p.Arg43Thr | Missense | 2/9 | - |
| 13-32906593-C-T | BRCA2 | c.978C>T | p.Ser326Ser | Synonymous | 10/27 | - |
| 1-226016558-G-A | EPHX1 | c.128G>A | p.Arg43Lys | Missense | 2/9 | - |
| 1-161138933-C-G | PPOX | c.767C>G | p.Pro256Arg | Missense | 7/13 | - |
| 22-46615880-T-A | PPARA | c.680T>A | p.Val227Asp | Missense | 6/8 | - |
| 13-32906593-C-G | BRCA2 | c.978C>G | p.Ser326Arg | Missense | 10/27 | - |
| 15-76578762-G-A | ETFA | c.512C>T | p.Thr171Ile | Missense | 6/12 | - |
| 7-155604726-C-T | SHH | c.91G>A | p.Gly31Arg | Missense | 1/3 | - |
| 18-58039478-G-T | MC4R | c.105C>A | p.Tyr35* | Nonsense | 1/1 | - |
| 4-187455426-G-A | MTNR1A | c.470C>T | p.Ala157Val | Missense | 2/2 | - |
| 21-44478972-C-T | CBS | c.1330G>A | p.Asp444Asn | Missense | 14/17 | - |
| 13-20763186-C-T | GJB2 | c.535G>A | p.Asp179Asn | Missense | 2/2 | - |
| 13-20763186-C-A | GJB2 | c.535G>T | p.Asp179Tyr | Missense | 2/2 | - |
| 13-20763186-C-G | GJB2 | c.535G>C | p.Asp179His | Missense | 2/2 | - |
| 14-23900677-C-T | MYH7 | c.746G>A | p.Arg249Gln | Missense | 9/40 | - |
| 12-53298582-C-A | KRT8 | c.184G>T | p.Gly62Cys | Missense | 1/8 | - |
| 3-10183770-G-A | VHL | c.239G>A | p.Ser80Asn | Missense | 1/3 | - |
| 3-10183808-G-A | VHL | c.277G>A | p.Gly93Ser | Missense | 1/3 | - |
| 3-10183808-G-C | VHL | c.277G>C | p.Gly93Arg | Missense | 1/3 | - |
| 17-7577511-A-C | TP53 | c.770T>G | p.Leu257Arg | Missense | 7/11 | - |
| 17-39780481-C-T | KRT17 | c.281G>A | p.Arg94His | Missense | 1/8 | - |
| 7-42005871-C-G | GLI3 | c.2800G>C | p.Ala934Pro | Missense | 15/15 | - |
| X-153171297-C-T | AVPR2 | c.337C>T | p.Arg113Trp | Missense | 3/4 | - |
| 7-117120179-G-A | CFTR | c.31G>A | p.Val11Ile | Missense | 1/27 | - |
| 7-117120179-G-C | CFTR | c.31G>C | p.Val11Leu | Missense | 1/27 | - |
| 12-103246681-G-T | PAH | c.754C>A | p.Arg252Arg | Synonymous | 7/13 | - |
| 11-88911363-C-T | TYR | c.242C>T | p.Pro81Leu | Missense | 1/5 | - |
| 1-171083403-G-A | FMO3 | c.1084G>A | p.Glu362Lys | Missense | 7/9 | - |
| 1-171083403-G-C | FMO3 | c.1084G>C | p.Glu362Gln | Missense | 7/9 | - |
| 7-117144344-C-A | CFTR | c.91C>A | p.Arg31Ser | Missense | 2/27 | - |
| 7-117144344-C-T | CFTR | c.91C>T | p.Arg31Cys | Missense | 2/27 | - |
| 1-53679173-A-C | CPT2 | c.1883A>C | p.Tyr628Ser | Missense | 5/5 | - |
| 12-57535266-C-A | LRP1 | c.300C>A | p.Asp100Glu | Missense | 3/89 | - |
| 4-52895065-G-C | SGCB | c.452C>G | p.Thr151Arg | Missense | 4/6 | - |
| 15-48737664-G-T | FBN1 | c.5826C>A | p.Cys1942* | Nonsense | 48/66 | - |
| 1-156104288-A-T | LMNA | c.608A>T | p.Glu203Val | Missense | 3/12 | - |
| 17-7577511-A-T | TP53 | c.770T>A | p.Leu257Gln | Missense | 7/11 | - |
| 17-41226488-C-A | BRCA1 | c.4535G>T | p.Ser1512Ile | Missense | 14/23 | - |
| 22-29121087-A-C | CHEK2 | c.599T>G | p.Ile200Ser | Missense | 5/16 | - |
| 12-103246681-G-C | PAH | c.754C>G | p.Arg252Gly | Missense | 7/13 | - |
| 12-57535266-C-T | LRP1 | c.300C>T | p.Asp100Asp | Synonymous | 3/89 | - |
| 17-7578532-A-G | TP53 | c.398T>C | p.Met133Thr | Missense | 5/11 | - |
| 5-149433645-T-A | CSF1R | c.2906A>T | p.Tyr969Phe | Missense | 22/22 | - |
| 15-80472526-C-A | FAH | c.1021C>A | p.Arg341Arg | Synonymous | 12/14 | - |
| 3-10183781-G-A | VHL | c.250G>A | p.Val84Met | Missense | 1/3 | - |
| 15-48780418-A-T | FBN1 | c.3229T>A | p.Ser1077Thr | Missense | 27/66 | - |
| 17-39768579-A-G | KRT16 | c.362T>C | p.Met121Thr | Missense | 1/8 | - |
| 4-6303248-G-A | WFS1 | c.1726G>A | p.Gly576Ser | Missense | 8/8 | - |
| 12-121175678-C-T | ACADS | c.511C>T | p.Arg171Trp | Missense | 5/10 | - |
| 17-39768579-A-C | KRT16 | c.362T>G | p.Met121Arg | Missense | 1/8 | - |
| 17-39768579-A-T | KRT16 | c.362T>A | p.Met121Lys | Missense | 1/8 | - |
| 8-30938648-C-T | WRN | c.1105C>T | p.Arg369* | Nonsense | 9/35 | - |
| 11-2187923-C-T | TH | c.917G>A | p.Arg306His | Missense | 8/13 | - |
| 14-23884230-G-T | MYH7 | c.5533C>A | p.Arg1845Arg | Synonymous | 37/40 | - |
| 19-15302906-G-A | NOTCH3 | c.544C>T | p.Arg182Cys | Missense | 4/33 | - |
| 14-23884230-G-A | MYH7 | c.5533C>T | p.Arg1845Trp | Missense | 37/40 | - |
| X-10417535-A-G | MID1 | c.1877T>C | p.Leu626Pro | Missense | 10/10 | - |
| 22-50962443-C-T | SCO2 | c.398G>A | p.Cys133Tyr | Missense | 2/2 | - |
| 6-31828365-C-T | NEU1 | c.649G>A | p.Val217Met | Missense | 4/6 | - |
| 12-52308229-G-A | ACVRL1 | c.632G>A | p.Gly211Asp | Missense | 6/10 | - |
| 3-37053562-C-A | MLH1 | c.649C>A | p.Arg217Ser | Missense | 8/19 | - |
| 3-37053550-G-T | MLH1 | c.637G>T | p.Val213Leu | Missense | 8/19 | - |
| 3-10188219-A-G | VHL | c.362A>G | p.Asp121Gly | Missense | 2/3 | - |
| 17-79479026-G-A | ACTG1 | c.266C>T | p.Thr89Ile | Missense | 3/6 | - |
| 3-129251565-A-G | RHO | c.886A>G | p.Lys296Glu | Missense | 4/5 | - |
| 3-10183797-T-C | VHL | c.266T>C | p.Leu89Pro | Missense | 1/3 | - |
| 2-49190261-C-T | FSHR | c.1699G>A | p.Asp567Asn | Missense | 10/10 | - |
| 17-42328574-G-A | SLC4A1 | c.2608C>T | p.Arg870Trp | Missense | 19/20 | - |
| 17-42328574-G-T | SLC4A1 | c.2608C>A | p.Arg870Arg | Synonymous | 19/20 | - |
| 13-32930673-C-T | BRCA2 | c.7544C>T | p.Thr2515Ile | Missense | 15/27 | - |
| 3-48896530-T-C | SLC25A20 | c.713A>G | p.Gln238Arg | Missense | 7/9 | - |
| 5-137206510-C-T | MYOT | c.170C>T | p.Thr57Ile | Missense | 2/10 | - |
| 3-24164404-G-C | THRB | c.1357C>G | p.Pro453Ala | Missense | 10/10 | - |
| 3-24164404-G-A | THRB | c.1357C>T | p.Pro453Ser | Missense | 10/10 | - |
| X-100653420-C-T | GLA | c.937G>A | p.Asp313Asn | Missense | 6/7 | - |
| X-100653420-C-A | GLA | c.937G>T | p.Asp313Tyr | Missense | 6/7 | - |
| 12-5021275-C-A | KCNA1 | c.731C>A | p.Pro244His | Missense | 2/2 | - |
| 12-5021275-C-T | KCNA1 | c.731C>T | p.Pro244Leu | Missense | 2/2 | - |
| 13-32972884-A-G | BRCA2 | c.10234A>G | p.Ile3412Val | Missense | 27/27 | - |
| 16-56904031-C-T | SLC12A3 | c.625C>T | p.Arg209Trp | Missense | 5/26 | - |
| X-153171400-C-T | AVPR2 | c.440C>T | p.Ala147Val | Missense | 3/4 | - |
| 16-3304626-C-T | MEFV | c.442G>A | p.Glu148Lys | Missense | 2/10 | - |
| 14-75514863-T-C | MLH3 | c.1496A>G | p.Asn499Ser | Missense | 2/12 | - |
| 19-36339044-C-T | NPHS1 | c.1339G>A | p.Glu447Lys | Missense | 11/29 | - |
| 4-141483471-T-A | UCP1 | c.685A>T | p.Met229Leu | Missense | 5/6 | - |
| 7-117232223-C-A | CFTR | c.2002C>A | p.Arg668Ser | Missense | 14/27 | - |
| 17-78086713-G-T | GAA | c.1927G>T | p.Gly643Trp | Missense | 14/20 | - |
| 10-43615633-C-A | RET | c.2712C>A | p.Ser904Ser | Synonymous | 15/20 | - |
| 10-43615633-C-G | RET | c.2712C>G | p.Ser904Ser | Synonymous | 15/20 | - |
| 7-95034775-G-C | PON2 | c.932C>G | p.Ser311Cys | Missense | 9/9 | - |
| 1-24122673-C-T | GALE | c.956G>A | p.Gly319Glu | Missense | 11/12 | - |
| 1-171251197-T-C | FMO1 | c.908T>C | p.Ile303Thr | Missense | 7/9 | - |
| 7-94054519-G-A | COL1A2 | c.2764G>A | p.Gly922Ser | Missense | 42/52 | - |
| 18-13884757-T-C | MC2R | c.761A>G | p.Tyr254Cys | Missense | 2/2 | - |
| 1-97981395-T-C | DPYD | c.1627A>G | p.Ile543Val | Missense | 13/23 | - |
| 2-202074098-G-A | CASP10 | c.1228G>A | p.Val410Ile | Missense | 9/10 | - |
| 12-103237547-G-C | PAH | c.1076C>G | p.Ser359* | Nonsense | 11/13 | - |
| 3-10183823-T-C | VHL | c.292T>C | p.Tyr98His | Missense | 1/3 | - |
| 12-103234271-G-A | PAH | c.1222C>T | p.Arg408Trp | Missense | 12/13 | - |
| 15-51534995-A-G | CYP19A1 | c.115T>C | p.Trp39Arg | Missense | 2/10 | - |
| 1-169519112-C-T | F5 | c.1538G>A | p.Arg513Lys | Missense | 10/25 | - |
| 6-36651971-C-T | CDKN1A | c.93C>T | p.Ser31Ser | Synonymous | 3/4 | - |
| 6-36651971-C-A | CDKN1A | c.93C>A | p.Ser31Arg | Missense | 3/4 | - |
| X-55047554-T-A | ALAS2 | c.569A>T | p.Asp190Val | Missense | 5/11 | - |
| 6-132172368-A-G | ENPP1 | c.517A>G | p.Lys173Glu | Missense | 4/25 | - |
| 12-52309898-T-G | ACVRL1 | c.1127T>G | p.Met376Arg | Missense | 8/10 | - |
| 14-37132368-A-G | PAX9 | c.271A>G | p.Lys91Glu | Missense | 3/5 | - |
| 1-227076678-A-T | PSEN2 | c.715A>T | p.Met239Leu | Missense | 8/13 | - |
| 11-17419279-C-T | ABCC8 | c.3819G>A | p.Arg1273Arg | Synonymous | 31/39 | - |
| 17-39768558-A-G | KRT16 | c.383T>C | p.Leu128Pro | Missense | 1/8 | - |
| 3-10191506-C-G | VHL | c.499C>G | p.Arg167Gly | Missense | 3/3 | - |
| 12-58158293-C-G | CYP27B1 | c.1004G>C | p.Arg335Pro | Missense | 6/9 | - |
| 1-227076678-A-C | PSEN2 | c.715A>C | p.Met239Leu | Missense | 8/13 | - |
| 18-58039350-G-A | MC4R | c.233C>T | p.Pro78Leu | Missense | 1/1 | - |
| 8-143994041-C-T | CYP11B2 | c.1303G>A | p.Gly435Ser | Missense | 8/9 | - |
| 13-20763671-G-C | GJB2 | c.50C>G | p.Ser17Cys | Missense | 2/2 | - |
| 13-20763671-G-A | GJB2 | c.50C>T | p.Ser17Phe | Missense | 2/2 | - |
| 10-96534922-G-A | CYP2C19 | c.276G>A | p.Glu92Glu | Synonymous | 2/9 | - |
| 10-96534922-G-C | CYP2C19 | c.276G>C | p.Glu92Asp | Missense | 2/9 | - |
| 21-38309098-A-C | HLCS | c.647T>G | p.Leu216Arg | Missense | 5/12 | - |
| 10-131557525-A-G | MGMT | c.427A>G | p.Ile143Val | Missense | 5/5 | - |
| 4-1807891-G-T | FGFR3 | c.1950G>T | p.Lys650Asn | Missense | 14/18 | - |
| 4-1807891-G-C | FGFR3 | c.1950G>C | p.Lys650Asn | Missense | 14/18 | - |
| 7-117180336-C-G | CFTR | c.1052C>G | p.Thr351Ser | Missense | 8/27 | - |
| 2-227915847-C-T | COL4A4 | c.2996G>A | p.Gly999Glu | Missense | 33/48 | - |
| 17-28576076-T-C | BLMH | c.1327A>G | p.Ile443Val | Missense | 12/12 | - |
| 16-56913065-T-C | SLC12A3 | c.1261T>C | p.Cys421Arg | Missense | 10/26 | - |
| 3-37053562-C-T | MLH1 | c.649C>T | p.Arg217Cys | Missense | 8/19 | - |
| 3-37053568-A-C | MLH1 | c.655A>C | p.Ile219Leu | Missense | 8/19 | - |
| 3-37053568-A-T | MLH1 | c.655A>T | p.Ile219Phe | Missense | 8/19 | - |
| 1-207782856-A-G | CR1 | c.4768A>G | p.Lys1590Glu | Missense | 29/39 | - |
| 6-160663420-T-G | SLC22A2 | c.1294A>C | p.Lys432Gln | Missense | 8/11 | - |
| 15-48782093-C-G | FBN1 | c.3037G>C | p.Gly1013Arg | Missense | 25/66 | - |
| 15-48782093-C-T | FBN1 | c.3037G>A | p.Gly1013Arg | Missense | 25/66 | - |
| 15-48757777-G-A | FBN1 | c.4930C>T | p.Arg1644* | Nonsense | 40/66 | - |
| 2-48027755-T-G | MSH6 | c.2633T>G | p.Val878Gly | Missense | 4/10 | - |
| 2-48027755-T-C | MSH6 | c.2633T>C | p.Val878Ala | Missense | 4/10 | - |
| 15-48757777-G-T | FBN1 | c.4930C>A | p.Arg1644Arg | Synonymous | 40/66 | - |
| 1-94490595-G-T | ABCA4 | c.4549C>A | p.Arg1517Ser | Missense | 31/50 | - |
| 17-7918017-G-C | GUCY2D | c.2511G>C | p.Glu837Asp | Missense | 13/20 | - |
| 1-98165091-T-C | DPYD | c.496A>G | p.Met166Val | Missense | 6/23 | - |
| 1-94490595-G-A | ABCA4 | c.4549C>T | p.Arg1517Cys | Missense | 31/50 | - |
| 19-46178043-G-T | GIPR | c.592G>T | p.Gly198Cys | Missense | 7/14 | - |
| 1-227076678-A-G | PSEN2 | c.715A>G | p.Met239Val | Missense | 8/13 | - |
| 4-111543456-A-T | PITX2 | c.161T>A | p.Leu54Gln | Missense | 1/3 | - |
| X-153588567-G-A | FLNA | c.3596C>T | p.Ser1199Leu | Missense | 22/48 | - |
| 17-39780499-A-G | KRT17 | c.263T>C | p.Met88Thr | Missense | 1/8 | - |
| 17-39780499-A-T | KRT17 | c.263T>A | p.Met88Lys | Missense | 1/8 | - |
| 5-147480027-G-A | SPINK5 | c.1103G>A | p.Ser368Asn | Missense | 13/34 | - |
| X-100653522-G-C | GLA | c.835C>G | p.Gln279Glu | Missense | 6/7 | - |
| 20-3063745-A-G | AVP | c.200T>C | p.Val67Ala | Missense | 2/3 | - |
| 1-201047062-G-A | CACNA1S | c.1564C>T | p.Leu522Leu | Synonymous | 11/44 | - |
| 5-1411412-T-C | SLC6A3 | c.1215A>G | p.Ser405Ser | Synonymous | 9/15 | - |
| 2-220439916-G-A | INHA | c.769G>A | p.Ala257Thr | Missense | 2/2 | - |
| X-153993747-T-C | DKC1 | c.113T>C | p.Ile38Thr | Missense | 3/15 | - |
| 13-32953549-G-A | BRCA2 | c.8850G>A | p.Lys2950Lys | Synonymous | 22/27 | - |
| 7-44104896-C-G | PGAM2 | c.233G>C | p.Trp78Ser | Missense | 1/3 | - |
| X-100653378-G-A | GLA | c.979C>T | p.Gln327* | Nonsense | 6/7 | - |
| 1-183532437-G-A | NCF2 | c.1183C>T | p.Arg395Trp | Missense | 13/15 | - |
| 2-176959373-C-A | HOXD13 | c.947C>A | p.Ser316Tyr | Missense | 2/2 | - |
| 2-176959373-C-G | HOXD13 | c.947C>G | p.Ser316Cys | Missense | 2/2 | - |
| 10-72358173-G-A | PRF1 | c.1304C>T | p.Thr435Met | Missense | 3/3 | - |
| 12-121175742-C-T | ACADS | c.575C>T | p.Ala192Val | Missense | 5/10 | - |
| X-100653467-G-C | GLA | c.890C>G | p.Ser297Cys | Missense | 6/7 | - |
| 4-68606334-T-C | GNRHR | c.851A>G | p.Tyr284Cys | Missense | 3/3 | - |
| 3-10183752-T-A | VHL | c.221T>A | p.Val74Asp | Missense | 1/3 | - |
| 19-45322744-A-G | BCAM | c.1615A>G | p.Thr539Ala | Missense | 12/15 | - |
| 13-32953549-G-T | BRCA2 | c.8850G>T | p.Lys2950Asn | Missense | 22/27 | - |
| 7-44104896-C-T | PGAM2 | c.233G>A | p.Trp78* | Nonsense | 1/3 | - |
| 1-53675866-G-T | CPT2 | c.520G>T | p.Glu174* | Nonsense | 4/5 | - |
| 13-32953550-G-T | BRCA2 | c.8851G>T | p.Ala2951Ser | Missense | 22/27 | - |
| 17-41246031-CT-CA | BRCA1 | c.1516_1517delAGinsCA | p.Arg506Gln | Missense | 10/23 | - |
| X-153296860-G-T | MECP2 | c.419C>A | p.Ala140Glu | Missense | 4/4 | - |
| 8-30915997-C-T | WRN | c.34C>T | p.Gln12* | Nonsense | 2/35 | - |
| 1-226026406-A-T | EPHX1 | c.416A>T | p.His139Leu | Missense | 4/9 | - |
| 1-101196787-G-C | VCAM1 | c.1238G>C | p.Gly413Ala | Missense | 6/9 | - |
| 9-21971108-C-T | CDKN2A | c.250G>A | p.Asp84Asn | Missense | 2/3 | - |
| 1-171607843-G-C | MYOC | c.624C>G | p.Asp208Glu | Missense | 2/3 | - |
| 1-171607843-G-A | MYOC | c.624C>T | p.Asp208Asp | Synonymous | 2/3 | - |
| 17-79767715-G-A | GCGR | c.118G>A | p.Gly40Ser | Missense | 3/14 | - |
| 2-241817516-A-G | AGXT | c.1020A>G | p.Ile340Met | Missense | 10/11 | - |
| 12-6457062-T-A | SCNN1A | c.1987A>T | p.Thr663Ser | Missense | 13/13 | - |
| 12-6457062-T-G | SCNN1A | c.1987A>C | p.Thr663Pro | Missense | 13/13 | - |
| 7-117232223-C-T | CFTR | c.2002C>T | p.Arg668Cys | Missense | 14/27 | - |
| 16-3304739-A-G | MEFV | c.329T>C | p.Leu110Pro | Missense | 2/10 | - |
| 13-33628193-G-C | KL | c.1109G>C | p.Cys370Ser | Missense | 2/5 | - |
| 17-7577559-G-T | TP53 | c.722C>A | p.Ser241Tyr | Missense | 7/11 | - |
| 12-6457062-T-C | SCNN1A | c.1987A>G | p.Thr663Ala | Missense | 13/13 | - |
| 11-27680107-G-T | BDNF | c.5C>A | p.Thr2Asn | Missense | 1/1 | - |
| 1-171154959-A-G | FMO2 | c.107A>G | p.Asp36Gly | Missense | 2/9 | - |
| 12-58159802-C-T | CYP27B1 | c.374G>A | p.Gly125Glu | Missense | 2/9 | - |
| 17-7577559-G-C | TP53 | c.722C>G | p.Ser241Cys | Missense | 7/11 | - |
| 3-10183752-T-G | VHL | c.221T>G | p.Val74Gly | Missense | 1/3 | - |
| 6-137527299-G-T | IFNGR1 | c.347C>A | p.Ser116* | Nonsense | 3/7 | - |
| X-153588601-C-T | FLNA | c.3562G>A | p.Ala1188Thr | Missense | 22/48 | - |
| 16-30913528-G-A | CTF1 | c.274G>A | p.Ala92Thr | Missense | 3/3 | - |
| 3-10183752-T-C | VHL | c.221T>C | p.Val74Ala | Missense | 1/3 | - |
| 2-47656972-C-G | MSH2 | c.1168C>G | p.Leu390Val | Missense | 7/16 | - |
| 17-41055964-C-T | G6PC | c.247C>T | p.Arg83Cys | Missense | 2/5 | - |
| 2-47656972-C-T | MSH2 | c.1168C>T | p.Leu390Phe | Missense | 7/16 | - |
| 4-6303618-C-T | WFS1 | c.2096C>T | p.Thr699Met | Missense | 8/8 | - |
| 11-66619415-C-T | PC | c.1828G>A | p.Ala610Thr | Missense | 16/23 | - |
| X-54482666-C-T | FGD1 | c.1829G>A | p.Arg610Gln | Missense | 10/18 | - |
| 10-43606856-G-A | RET | c.1465G>A | p.Asp489Asn | Missense | 7/20 | - |
| 16-2156600-G-A | PKD1 | c.7288C>T | p.Arg2430* | Nonsense | 18/46 | - |
| 2-169847329-T-C | ABCB11 | c.890A>G | p.Glu297Gly | Missense | 9/28 | - |
| 3-10188264-T-C | VHL | c.407T>C | p.Phe136Ser | Missense | 2/3 | - |
| 3-10188264-T-G | VHL | c.407T>G | p.Phe136Cys | Missense | 2/3 | - |
| 22-42524817-C-T | CYP2D6 | c.635G>A | p.Gly212Glu | Missense | 4/9 | - |
| 16-67470004-G-A | HSD11B2 | c.623G>A | p.Arg208His | Missense | 3/5 | - |
| 17-42328621-G-T | SLC4A1 | c.2561C>A | p.Pro854Gln | Missense | 19/20 | - |
| 16-89815152-G-A | FANCA | c.3263C>T | p.Ser1088Phe | Missense | 33/43 | - |
| 13-78477665-G-A | EDNRB | c.561C>T | p.Ile187Ile | Synonymous | 3/8 | - |
| 4-111542459-C-T | PITX2 | c.272G>A | p.Arg91Gln | Missense | 2/3 | - |
| 4-111542459-C-G | PITX2 | c.272G>C | p.Arg91Pro | Missense | 2/3 | - |
| 8-18080116-G-A | NAT1 | c.560G>A | p.Arg187Gln | Missense | 3/3 | - |
| 3-10191497-C-G | VHL | c.490C>G | p.Gln164Glu | Missense | 3/3 | - |
| X-100653777-T-G | GLA | c.797A>C | p.Asp266Ala | Missense | 5/7 | - |
| 13-52532509-C-G | ATP7B | c.2293G>C | p.Asp765His | Missense | 8/21 | - |
| 8-27373865-G-A | EPHX2 | c.860G>A | p.Arg287Gln | Missense | 8/19 | - |
| 22-42525811-T-C | CYP2D6 | c.281A>G | p.His94Arg | Missense | 2/9 | - |
| 7-150648703-A-T | KCNH2 | c.1778T>A | p.Ile593Lys | Missense | 7/15 | - |
| 7-75615277-G-A | POR | c.1706G>A | p.Cys569Tyr | Missense | 14/16 | - |
| 19-5831840-C-T | FUT6 | c.739G>A | p.Glu247Lys | Missense | 3/3 | - |
| X-53459058-G-C | HSD17B10 | c.364C>G | p.Leu122Val | Missense | 4/6 | - |
| X-153762634-G-A | G6PD | c.653C>T | p.Ser218Phe | Missense | 6/13 | - |
| 17-7577094-G-C | TP53 | c.844C>G | p.Arg282Gly | Missense | 8/11 | - |
| 20-43255220-T-C | ADA | c.239A>G | p.Lys80Arg | Missense | 4/12 | - |
| 4-55593685-T-G | KIT | c.1751T>G | p.Phe584Cys | Missense | 11/21 | - |
| 18-55247336-C-A | FECH | c.163G>T | p.Gly55Cys | Missense | 2/11 | - |
| 20-33530409-G-A | GSS | c.373C>T | p.Arg125Cys | Missense | 5/13 | - |
| 3-10191497-C-T | VHL | c.490C>T | p.Gln164* | Nonsense | 3/3 | - |
| X-100653777-T-A | GLA | c.797A>T | p.Asp266Val | Missense | 5/7 | - |
| 6-26091269-G-C | HFE | c.277G>C | p.Gly93Arg | Missense | 2/6 | - |
| 13-108863609-G-C | LIG4 | c.8C>G | p.Ala3Gly | Missense | 2/2 | - |
| 1-94564483-C-T | ABCA4 | c.635G>A | p.Arg212His | Missense | 6/50 | - |
| 13-32893271-A-G | BRCA2 | c.125A>G | p.Tyr42Cys | Missense | 3/27 | - |
| 18-58039291-C-T | MC4R | c.292G>A | p.Gly98Arg | Missense | 1/1 | - |
| 17-7578479-G-A | TP53 | c.451C>T | p.Pro151Ser | Missense | 5/11 | - |
| 17-7578479-G-C | TP53 | c.451C>G | p.Pro151Ala | Missense | 5/11 | - |
| 16-27373964-T-C | IL4R | c.1291T>C | p.Cys431Arg | Missense | 11/11 | - |
| 17-78086713-G-A | GAA | c.1927G>A | p.Gly643Arg | Missense | 14/20 | - |
| 7-117250664-T-C | CFTR | c.3080T>C | p.Ile1027Thr | Missense | 19/27 | - |
| 19-41349750-C-A | CYP2A6 | c.1436G>T | p.Gly479Val | Missense | 9/9 | - |
| 1-25717308-G-C | RHCE | c.733C>G | p.Leu245Val | Missense | 5/10 | - |
| 1-25717308-G-A | RHCE | c.733C>T | p.Leu245Leu | Synonymous | 5/10 | - |
| 14-75514420-G-A | MLH3 | c.1939C>T | p.Arg647Cys | Missense | 2/12 | - |
| X-153170995-G-A | AVPR2 | c.35G>A | p.Gly12Glu | Missense | 3/4 | - |
| 1-94506901-C-A | ABCA4 | c.3386G>T | p.Arg1129Leu | Missense | 23/50 | - |
| 4-1806153-C-T | FGFR3 | c.1172C>T | p.Ala391Val | Missense | 9/18 | - |
| 5-7885907-C-T | MTRR | c.997C>T | p.Leu333Phe | Missense | 7/15 | - |
| 17-7577548-C-G | TP53 | c.733G>C | p.Gly245Arg | Missense | 7/11 | - |
| 17-42988676-A-G | GFAP | c.1055T>C | p.Leu352Pro | Missense | 6/9 | - |
| 7-99358498-G-A | CYP3A4 | c.1357C>T | p.Leu453Phe | Missense | 12/13 | - |
| 1-242042364-A-C | EXO1 | c.1828A>C | p.Ser610Arg | Missense | 11/14 | - |
| 1-94506901-C-T | ABCA4 | c.3386G>A | p.Arg1129His | Missense | 23/50 | - |
| 15-48733923-C-A | FBN1 | c.6158G>T | p.Cys2053Phe | Missense | 50/66 | - |
| 15-48733923-C-T | FBN1 | c.6158G>A | p.Cys2053Tyr | Missense | 50/66 | - |
| 4-1806153-C-A | FGFR3 | c.1172C>A | p.Ala391Glu | Missense | 9/18 | - |
| 8-18080115-C-T | NAT1 | c.559C>T | p.Arg187* | Nonsense | 3/3 | - |
| 5-7885907-C-G | MTRR | c.997C>G | p.Leu333Val | Missense | 7/15 | - |
| 1-156084878-G-C | LMNA | c.169G>C | p.Ala57Pro | Missense | 1/12 | - |
| 1-156084878-G-A | LMNA | c.169G>A | p.Ala57Thr | Missense | 1/12 | - |
| 12-52309891-C-T | ACVRL1 | c.1120C>T | p.Arg374Trp | Missense | 8/10 | - |
| 1-156084963-T-A | LMNA | c.254T>A | p.Leu85His | Missense | 1/12 | - |
| 7-99358498-G-T | CYP3A4 | c.1357C>A | p.Leu453Ile | Missense | 12/13 | - |
| 1-35250464-T-C | GJB3 | c.101T>C | p.Leu34Pro | Missense | 2/2 | - |
| 22-51064039-G-C | ARSA | c.1178C>G | p.Thr393Ser | Missense | 7/8 | - |
| 1-183532437-G-C | NCF2 | c.1183C>G | p.Arg395Gly | Missense | 13/15 | - |
| X-113965735-G-T | HTR2C | c.68G>T | p.Cys23Phe | Missense | 4/6 | - |
| 13-33628193-G-T | KL | c.1109G>T | p.Cys370Phe | Missense | 2/5 | - |
| 17-7123506-G-A | ACADVL | c.128G>A | p.Gly43Asp | Missense | 2/20 | - |
| 14-37132173-C-T | PAX9 | c.76C>T | p.Arg26Trp | Missense | 3/5 | - |
| 1-25627552-C-G | RHD | c.602C>G | p.Thr201Arg | Missense | 4/10 | - |
| 17-41223048-A-G | BRCA1 | c.4883T>C | p.Met1628Thr | Missense | 15/23 | - |
| 19-49253814-A-C | FUT1 | c.725T>G | p.Leu242Arg | Missense | 4/4 | - |
| 3-48609451-C-T | COL7A1 | c.7051G>A | p.Gly2351Arg | Missense | 91/118 | - |
| 13-110435231-C-G | IRS2 | c.3170G>C | p.Gly1057Ala | Missense | 1/2 | - |
| 12-121177159-C-T | ACADS | c.1147C>T | p.Arg383Cys | Missense | 10/10 | - |
| X-153588687-T-G | FLNA | c.3476A>C | p.Asp1159Ala | Missense | 22/48 | - |
| 3-57232305-G-A | HESX1 | c.478C>T | p.Arg160Cys | Missense | 4/4 | - |
| 12-6127833-T-C | VWF | c.4751A>G | p.Tyr1584Cys | Missense | 28/52 | - |
| 11-108122700-T-C | ATM | c.1744T>C | p.Phe582Leu | Missense | 11/63 | - |
| 8-143956428-C-T | CYP11B1 | c.1343G>A | p.Arg448His | Missense | 8/9 | - |
| 3-38648200-C-T | SCN5A | c.1100G>A | p.Arg367His | Missense | 9/28 | - |
| 3-37092025-C-T | MLH1 | c.2152C>T | p.His718Tyr | Missense | 19/19 | - |
| 17-7578406-C-A | TP53 | c.524G>T | p.Arg175Leu | Missense | 5/11 | - |
| X-113961355-C-G | HTR2C | c.10C>G | p.Leu4Val | Missense | 3/6 | - |
| 17-41222975-C-T | BRCA1 | c.4956G>A | p.Met1652Ile | Missense | 15/23 | - |
| 14-37132159-T-C | PAX9 | c.62T>C | p.Leu21Pro | Missense | 3/5 | - |
| 16-3299586-G-T | MEFV | c.1105C>A | p.Pro369Thr | Missense | 3/10 | - |
| 13-78492540-C-T | EDNRB | c.169G>A | p.Gly57Ser | Missense | 2/8 | - |
| 17-7577538-C-G | TP53 | c.743G>C | p.Arg248Pro | Missense | 7/11 | - |
| 8-143996516-G-T | CYP11B2 | c.541C>A | p.Arg181Arg | Synonymous | 3/9 | - |
| 3-10183811-G-A | VHL | c.280G>A | p.Glu94Lys | Missense | 1/3 | - |
| 7-117282582-G-T | CFTR | c.3808G>T | p.Asp1270Tyr | Missense | 23/27 | - |
| 14-88450770-G-A | GALC | c.550C>T | p.Arg184Cys | Missense | 5/17 | - |
| 16-75513118-G-T | CHST6 | c.609C>A | p.Asp203Glu | Missense | 3/3 | - |
| 2-75116527-G-A | HK2 | c.2531G>A | p.Arg844Lys | Missense | 17/18 | - |
| 21-27264107-G-A | APP | c.2138C>T | p.Ala713Val | Missense | 17/18 | - |
| 14-23897792-C-T | MYH7 | c.1495G>A | p.Glu499Lys | Missense | 15/40 | - |
| 8-143996516-G-A | CYP11B2 | c.541C>T | p.Arg181Trp | Missense | 3/9 | - |
| 11-111958677-A-G | SDHD | c.149A>G | p.His50Arg | Missense | 2/4 | - |
| 19-18893939-G-A | COMP | c.2152C>T | p.Arg718Trp | Missense | 18/19 | - |
| 19-18893939-G-T | COMP | c.2152C>A | p.Arg718Arg | Synonymous | 18/19 | - |
| 17-79478104-G-A | ACTG1 | c.833C>T | p.Thr278Ile | Missense | 5/6 | - |
| 22-42526670-C-T | CYP2D6 | c.124G>A | p.Gly42Arg | Missense | 1/9 | - |
| 22-42525772-G-T | CYP2D6 | c.320C>A | p.Thr107Asn | Missense | 2/9 | - |
| 17-39780488-T-C | KRT17 | c.274A>G | p.Asn92Asp | Missense | 1/8 | - |
| 17-39780488-T-G | KRT17 | c.274A>C | p.Asn92His | Missense | 1/8 | - |
| 2-190719179-T-C | PMS1 | c.1181T>C | p.Met394Thr | Missense | 9/13 | - |
| 17-41055965-G-A | G6PC | c.248G>A | p.Arg83His | Missense | 2/5 | - |
| 16-3299468-C-T | MEFV | c.1223G>A | p.Arg408Gln | Missense | 3/10 | - |
| 20-10394008-C-T | MKKS | c.155G>A | p.Gly52Asp | Missense | 3/6 | - |
| 8-143996539-T-C | CYP11B2 | c.518A>G | p.Lys173Arg | Missense | 3/9 | - |
| 10-72358443-G-T | PRF1 | c.1034C>A | p.Pro345His | Missense | 3/3 | - |
| 13-78475230-C-T | EDNRB | c.914G>A | p.Ser305Asn | Missense | 5/8 | - |
| 4-6303668-G-C | WFS1 | c.2146G>C | p.Ala716Pro | Missense | 8/8 | - |
| 15-48780418-A-G | FBN1 | c.3229T>C | p.Ser1077Pro | Missense | 27/66 | - |
| X-46713161-G-T | RP2 | c.353G>T | p.Arg118Leu | Missense | 2/5 | - |
| 22-42526763-C-T | CYP2D6 | c.31G>A | p.Val11Met | Missense | 1/9 | - |
| 1-101196787-G-A | VCAM1 | c.1238G>A | p.Gly413Asp | Missense | 6/9 | - |
| 10-72358443-G-A | PRF1 | c.1034C>T | p.Pro345Leu | Missense | 3/3 | - |
| 19-38937350-G-A | RYR1 | c.742G>A | p.Gly248Arg | Missense | 9/106 | - |
| 22-46615880-T-C | PPARA | c.680T>C | p.Val227Ala | Missense | 6/8 | - |
| 17-7127184-G-A | ACADVL | c.1322G>A | p.Gly441Asp | Missense | 13/20 | - |
| 17-7127184-G-C | ACADVL | c.1322G>C | p.Gly441Ala | Missense | 13/20 | - |
| 11-36597018-G-A | RAG1 | c.2164G>A | p.Glu722Lys | Missense | 2/2 | - |
| 1-25628043-T-G | RHD | c.667T>G | p.Phe223Val | Missense | 5/10 | - |
| 3-10191488-C-G | VHL | c.481C>G | p.Arg161Gly | Missense | 3/3 | - |
| 3-10191488-C-T | VHL | c.481C>T | p.Arg161* | Nonsense | 3/3 | - |
| X-46713161-G-A | RP2 | c.353G>A | p.Arg118His | Missense | 2/5 | - |
| X-46719498-C-T | RP2 | c.844C>T | p.Arg282Trp | Missense | 3/5 | - |
| 16-27373872-A-C | IL4R | c.1199A>C | p.Glu400Ala | Missense | 11/11 | - |
| 15-48797335-T-C | FBN1 | c.1847A>G | p.Glu616Gly | Missense | 16/66 | - |
| 12-58159856-C-T | CYP27B1 | c.320G>A | p.Arg107His | Missense | 2/9 | - |
| 1-171083242-A-G | FMO3 | c.923A>G | p.Glu308Gly | Missense | 7/9 | - |
| 17-39742731-A-G | KRT14 | c.356T>C | p.Met119Thr | Missense | 1/8 | - |
| 13-32945172-A-C | BRCA2 | c.8567A>C | p.Glu2856Ala | Missense | 20/27 | - |
| 11-61724901-T-A | BEST1 | c.679T>A | p.Tyr227Asn | Missense | 6/11 | - |
| 9-21971108-C-A | CDKN2A | c.250G>T | p.Asp84Tyr | Missense | 2/3 | - |
| 12-103237454-T-C | PAH | c.1169A>G | p.Glu390Gly | Missense | 11/13 | - |
| 15-48779634-T-C | FBN1 | c.3338A>G | p.Asp1113Gly | Missense | 28/66 | - |
| 11-61723195-T-C | BEST1 | c.253T>C | p.Tyr85His | Missense | 4/11 | - |
| 14-80669580-T-C | DIO2 | c.274A>G | p.Thr92Ala | Missense | 4/4 | - |
| 1-160105635-T-C | ATP1A2 | c.2291T>C | p.Leu764Pro | Missense | 17/23 | - |
| 7-150647304-G-C | KCNH2 | c.2350C>G | p.Arg784Gly | Missense | 9/15 | - |
| 7-150647304-G-A | KCNH2 | c.2350C>T | p.Arg784Trp | Missense | 9/15 | - |
| 9-34649442-A-G | GALT | c.940A>G | p.Asn314Asp | Missense | 10/11 | - |
| X-153296860-G-A | MECP2 | c.419C>T | p.Ala140Val | Missense | 4/4 | - |
| 9-136302063-C-T | ADAMTS13 | c.1423C>T | p.Pro475Ser | Missense | 12/29 | - |
| 3-10188251-C-T | VHL | c.394C>T | p.Gln132* | Nonsense | 2/3 | - |
| 17-4720469-C-T | PLD2 | c.1730C>T | p.Thr577Ile | Missense | 17/25 | - |
| 7-113518498-C-A | PPP1R3A | c.2649G>T | p.Arg883Ser | Missense | 4/4 | - |
| 13-20763642-C-T | GJB2 | c.79G>A | p.Val27Ile | Missense | 2/2 | - |
| 3-10191493-C-G | VHL | c.486C>G | p.Cys162Trp | Missense | 3/3 | - |
| 3-10191493-C-A | VHL | c.486C>A | p.Cys162* | Nonsense | 3/3 | - |
| 9-98211572-T-A | PTCH1 | c.3583A>T | p.Thr1195Ser | Missense | 22/24 | - |
| 19-38991294-C-T | RYR1 | c.7372C>T | p.Arg2458Cys | Missense | 46/106 | - |
| 11-17436865-G-A | ABCC8 | c.2277C>T | p.Thr759Thr | Synonymous | 18/39 | - |
| 12-103246666-C-T | PAH | c.769G>A | p.Gly257Ser | Missense | 7/13 | - |
| 15-48729567-A-G | FBN1 | c.6331T>C | p.Cys2111Arg | Missense | 52/66 | - |
| 22-32487700-G-A | SLC5A1 | c.1231G>A | p.Ala411Thr | Missense | 11/15 | - |
| 3-10183811-G-T | VHL | c.280G>T | p.Glu94* | Nonsense | 1/3 | - |
| 18-58039300-C-T | MC4R | c.283G>A | p.Val95Ile | Missense | 1/1 | - |
| 11-61726991-C-G | BEST1 | c.889C>G | p.Pro297Ala | Missense | 8/11 | - |
| 18-58039300-C-A | MC4R | c.283G>T | p.Val95Phe | Missense | 1/1 | - |
| 11-61726991-C-T | BEST1 | c.889C>T | p.Pro297Ser | Missense | 8/11 | - |
| X-43817891-T-C | NDP | c.1A>G | p.Met1Val | Missense | 2/3 | - |
| 1-201022667-G-C | CACNA1S | c.3715C>G | p.Arg1239Gly | Missense | 30/44 | - |
| 1-201022667-G-A | CACNA1S | c.3715C>T | p.Arg1239Cys | Missense | 30/44 | - |
| 11-17436865-G-T | ABCC8 | c.2277C>A | p.Thr759Thr | Synonymous | 18/39 | - |
| 18-21115443-T-C | NPC1 | c.3467A>G | p.Asn1156Ser | Missense | 22/25 | - |
| 6-160664685-G-T | SLC22A2 | c.1198C>A | p.Arg400Ser | Missense | 7/11 | - |
| 11-88911122-A-G | TYR | c.1A>G | p.Met1Val | Missense | 1/5 | - |
| 15-48734013-A-G | FBN1 | c.6068T>C | p.Ile2023Thr | Missense | 50/66 | - |
| 12-103260410-C-G | PAH | c.473G>C | p.Arg158Pro | Missense | 5/13 | - |
| 16-2120572-G-A | TSC2 | c.1832G>A | p.Arg611Gln | Missense | 17/42 | - |
| 3-46414696-T-A | CCR5 | c.303T>A | p.Cys101* | Nonsense | 3/3 | - |
| 4-6304118-G-T | WFS1 | c.2596G>T | p.Asp866Tyr | Missense | 8/8 | - |
| 12-103249039-A-G | PAH | c.581T>C | p.Leu194Pro | Missense | 6/13 | - |
| 18-58038852-G-A | MC4R | c.731C>T | p.Ala244Val | Missense | 1/1 | - |
| 18-58038852-G-C | MC4R | c.731C>G | p.Ala244Gly | Missense | 1/1 | - |
| 12-5021268-G-C | KCNA1 | c.724G>C | p.Ala242Pro | Missense | 2/2 | - |
| 10-89468953-G-A | PAPSS2 | c.28G>A | p.Glu10Lys | Missense | 2/13 | - |
| 10-89468953-G-T | PAPSS2 | c.28G>T | p.Glu10* | Nonsense | 2/13 | - |
| 12-103260410-C-T | PAH | c.473G>A | p.Arg158Gln | Missense | 5/13 | - |
| 17-39780466-A-G | KRT17 | c.296T>C | p.Leu99Pro | Missense | 1/8 | - |
| 6-31324895-G-A | HLA-B | c.41C>T | p.Ser14Leu | Missense | 1/8 | - |
| 18-58038633-A-G | MC4R | c.950T>C | p.Ile317Thr | Missense | 1/1 | - |
| 4-6304118-G-A | WFS1 | c.2596G>A | p.Asp866Asn | Missense | 8/8 | - |
| 8-6728298-C-A | DEFB1 | c.112G>T | p.Val38Phe | Missense | 2/2 | - |
| 8-6728298-C-G | DEFB1 | c.112G>C | p.Val38Leu | Missense | 2/2 | - |
| 11-1782594-G-A | CTSD | c.173C>T | p.Ala58Val | Missense | 2/9 | - |
| 14-24839083-G-C | NFATC4 | c.479G>C | p.Gly160Ala | Missense | 2/10 | - |
| 4-15826558-C-A | CD38 | c.418C>A | p.Arg140Arg | Synonymous | 3/8 | - |
| 3-10191581-C-T | VHL | c.574C>T | p.Pro192Ser | Missense | 3/3 | - |
| 4-15826558-C-T | CD38 | c.418C>T | p.Arg140Trp | Missense | 3/8 | - |
| 18-58039473-T-A | MC4R | c.110A>T | p.Asp37Val | Missense | 1/1 | - |
| X-153761205-C-A | G6PD | c.1093G>T | p.Ala365Ser | Missense | 9/13 | - |
| 2-47637246-A-T | MSH2 | c.380A>T | p.Asn127Ile | Missense | 3/16 | - |
| 2-47637246-A-G | MSH2 | c.380A>G | p.Asn127Ser | Missense | 3/16 | - |
| 2-47637246-A-C | MSH2 | c.380A>C | p.Asn127Thr | Missense | 3/16 | - |
| 11-6291120-G-A | CCKBR | c.373G>A | p.Val125Ile | Missense | 2/5 | - |
| X-153761205-C-T | G6PD | c.1093G>A | p.Ala365Thr | Missense | 9/13 | - |
| 22-42525035-C-A | CYP2D6 | c.505G>T | p.Gly169* | Nonsense | 3/9 | - |
| 22-42525035-C-T | CYP2D6 | c.505G>A | p.Gly169Arg | Missense | 3/9 | - |
| 1-160106455-T-C | ATP1A2 | c.2659T>C | p.Trp887Arg | Missense | 19/23 | - |
| 4-6302889-G-A | WFS1 | c.1367G>A | p.Arg456His | Missense | 8/8 | - |
| 7-154862652-C-T | HTR5A | c.43C>T | p.Pro15Ser | Missense | 1/2 | - |
| 12-14993882-G-A | ART4 | c.350C>T | p.Thr117Ile | Missense | 2/3 | - |
| 12-14993882-G-T | ART4 | c.350C>A | p.Thr117Asn | Missense | 2/3 | - |
| 1-201029943-C-A | CACNA1S | c.3257G>T | p.Arg1086Leu | Missense | 26/44 | - |
| 1-161138933-C-T | PPOX | c.767C>T | p.Pro256Leu | Missense | 7/13 | - |
| 1-201029943-C-T | CACNA1S | c.3257G>A | p.Arg1086His | Missense | 26/44 | - |
| 6-160664685-G-A | SLC22A2 | c.1198C>T | p.Arg400Cys | Missense | 7/11 | - |
| 1-43804305-G-C | MPL | c.305G>C | p.Arg102Pro | Missense | 3/12 | - |
| 15-73029268-A-T | BBS4 | c.1414A>T | p.Met472Leu | Missense | 15/16 | - |
| 15-73029268-A-G | BBS4 | c.1414A>G | p.Met472Val | Missense | 15/16 | - |
| 3-10183797-T-A | VHL | c.266T>A | p.Leu89His | Missense | 1/3 | - |
| 3-10183868-C-A | VHL | c.337C>A | p.Arg113Arg | Synonymous | 1/3 | - |
| 2-71797430-G-T | DYSF | c.2997G>T | p.Trp999Cys | Missense | 28/55 | - |
| 7-127894640-G-T | LEP | c.328G>T | p.Val110Leu | Missense | 3/3 | - |
| 7-127894640-G-A | LEP | c.328G>A | p.Val110Met | Missense | 3/3 | - |
| 18-58039090-G-T | MC4R | c.493C>A | p.Arg165Arg | Synonymous | 1/1 | - |
| 15-28202743-G-A | OCA2 | c.1775C>T | p.Thr592Ile | Missense | 16/24 | - |
| 7-117230411-G-C | CFTR | c.1684G>C | p.Val562Leu | Missense | 13/27 | - |
| 7-117230411-G-A | CFTR | c.1684G>A | p.Val562Ile | Missense | 13/27 | - |
| 3-57232242-T-C | HESX1 | c.541A>G | p.Thr181Ala | Missense | 4/4 | - |
| 16-89806477-C-A | FANCA | c.3859G>T | p.Val1287Phe | Missense | 39/43 | - |
| 7-95041016-G-C | PON2 | c.443C>G | p.Ala148Gly | Missense | 5/9 | - |
| 17-3402354-C-T | ASPA | c.914C>T | p.Ala305Val | Missense | 6/6 | - |
| 16-89806477-C-T | FANCA | c.3859G>A | p.Val1287Ile | Missense | 39/43 | - |
| 17-3844345-G-A | ATP2A3 | c.2020C>T | p.Arg674Cys | Missense | 14/23 | - |
| 1-156107534-C-T | LMNA | c.1698C>T | p.His566His | Synonymous | 10/12 | - |
| 13-108863591-G-A | LIG4 | c.26C>T | p.Thr9Ile | Missense | 2/2 | - |
| 13-32911295-G-T | BRCA2 | c.2803G>T | p.Asp935Tyr | Missense | 11/27 | - |
| 13-32911295-G-C | BRCA2 | c.2803G>C | p.Asp935His | Missense | 11/27 | - |
| 7-75614973-T-A | POR | c.1475T>A | p.Val492Glu | Missense | 13/16 | - |
| 17-3397702-C-T | ASPA | c.693C>T | p.Tyr231Tyr | Synonymous | 5/6 | - |
| 17-3397702-C-A | ASPA | c.693C>A | p.Tyr231* | Nonsense | 5/6 | - |
| 2-219525942-A-G | BCS1L | c.232A>G | p.Ser78Gly | Missense | 3/9 | - |
| 19-41597751-C-T | CYP2A13 | c.769C>T | p.Arg257Cys | Missense | 5/9 | - |
| 7-24324879-T-C | NPY | c.20T>C | p.Leu7Pro | Missense | 2/4 | - |
| 7-24324879-T-A | NPY | c.20T>A | p.Leu7Gln | Missense | 2/4 | - |
| 2-38302350-C-G | CYP1B1 | c.182G>C | p.Gly61Ala | Missense | 2/3 | - |
| 7-117282582-G-A | CFTR | c.3808G>A | p.Asp1270Asn | Missense | 23/27 | - |
| 12-5021221-C-G | KCNA1 | c.677C>G | p.Thr226Arg | Missense | 2/2 | - |
| X-48385644-G-A | EBP | c.440G>A | p.Arg147His | Missense | 4/5 | - |
| X-100653551-A-C | GLA | c.806T>G | p.Val269Gly | Missense | 6/7 | - |
| X-153763531-C-T | G6PD | c.427G>A | p.Asp143Asn | Missense | 5/13 | - |
| 13-32906593-C-A | BRCA2 | c.978C>A | p.Ser326Arg | Missense | 10/27 | - |
| 5-131911535-A-T | RAD50 | c.280A>T | p.Ile94Leu | Missense | 3/25 | - |
| 5-131911535-A-C | RAD50 | c.280A>C | p.Ile94Leu | Missense | 3/25 | - |
| 7-117232642-A-G | CFTR | c.2421A>G | p.Ile807Met | Missense | 14/27 | - |
| 19-41349774-A-G | CYP2A6 | c.1412T>C | p.Ile471Thr | Missense | 9/9 | - |
| 17-42334882-C-T | SLC4A1 | c.1462G>A | p.Val488Met | Missense | 13/20 | - |
| 4-6303033-C-A | WFS1 | c.1511C>A | p.Pro504Gln | Missense | 8/8 | - |
| 4-6303033-C-T | WFS1 | c.1511C>T | p.Pro504Leu | Missense | 8/8 | - |
| 6-137219351-T-A | PEX7 | c.875T>A | p.Leu292* | Nonsense | 9/10 | - |
| 13-52532469-C-A | ATP7B | c.2333G>T | p.Arg778Leu | Missense | 8/21 | - |
| 6-160663420-T-C | SLC22A2 | c.1294A>G | p.Lys432Glu | Missense | 8/11 | - |
| 15-48737627-G-A | FBN1 | c.5863C>T | p.Gln1955* | Nonsense | 48/66 | - |
| 19-3595794-A-G | TBXA2R | c.924T>C | p.Tyr308Tyr | Synonymous | 3/3 | - |
| 11-17418527-C-T | ABCC8 | c.4055G>A | p.Arg1352His | Missense | 33/39 | - |
| 11-17418527-C-G | ABCC8 | c.4055G>C | p.Arg1352Pro | Missense | 33/39 | - |
| 1-24123212-T-C | GALE | c.770A>G | p.Lys257Arg | Missense | 9/12 | - |
| 2-227661043-T-C | IRS1 | c.2412A>G | p.Ala804Ala | Synonymous | 1/2 | - |
| 16-223502-C-A | HBA2 | c.332C>A | p.Ala111Asp | Missense | 3/3 | - |
| 16-223502-C-T | HBA2 | c.332C>T | p.Ala111Val | Missense | 3/3 | - |
| 1-196716337-T-C | CFH | c.3590T>C | p.Val1197Ala | Missense | 22/22 | - |
| 6-31784586-G-A | HSPA1A | c.1053G>A | p.Gln351Gln | Synonymous | 1/1 | - |
| 7-6045627-C-G | PMS2 | c.59G>C | p.Arg20Pro | Missense | 2/15 | - |
| 7-6045627-C-A | PMS2 | c.59G>T | p.Arg20Leu | Missense | 2/15 | - |
| 7-6045627-C-T | PMS2 | c.59G>A | p.Arg20Gln | Missense | 2/15 | - |
| 9-21970979-C-G | CDKN2A | c.379G>C | p.Ala127Pro | Missense | 2/3 | - |
| 16-83932868-T-C | MLYCD | c.119T>C | p.Met40Thr | Missense | 1/5 | - |
| 16-2328017-T-G | ABCA3 | c.4772A>C | p.Gln1591Pro | Missense | 31/33 | - |
| 13-52532469-C-T | ATP7B | c.2333G>A | p.Arg778Gln | Missense | 8/21 | - |
| 10-120353843-G-A | PRLHR | c.914C>T | p.Pro305Leu | Missense | 2/2 | - |
| 6-121769078-G-A | GJA1 | c.1085G>A | p.Arg362Gln | Missense | 2/2 | - |
| 11-108143456-C-A | ATM | c.3161C>A | p.Pro1054His | Missense | 22/63 | - |
| 11-108143456-C-G | ATM | c.3161C>G | p.Pro1054Arg | Missense | 22/63 | - |
| 3-10191569-C-G | VHL | c.562C>G | p.Leu188Val | Missense | 3/3 | - |
| 11-73717247-C-T | UCP3 | c.304G>A | p.Val102Ile | Missense | 3/7 | - |
| 22-51063820-G-A | ARSA | c.1283C>T | p.Pro428Leu | Missense | 8/8 | - |
| 18-3457439-A-G | TGIF1 | c.707A>G | p.Gln236Arg | Missense | 3/3 | - |
| 9-35076755-G-A | FANCG | c.890C>T | p.Thr297Ile | Missense | 7/14 | - |
| 8-143996177-A-G | CYP11B2 | c.743T>C | p.Ile248Thr | Missense | 4/9 | - |
| 1-183532437-G-T | NCF2 | c.1183C>A | p.Arg395Arg | Synonymous | 13/15 | - |
| 14-37132180-G-A | PAX9 | c.83G>A | p.Arg28His | Missense | 3/5 | - |
| 14-23900677-C-A | MYH7 | c.746G>T | p.Arg249Leu | Missense | 9/40 | - |
| 14-37132180-G-C | PAX9 | c.83G>C | p.Arg28Pro | Missense | 3/5 | - |
| 6-51889617-G-A | PKHD1 | c.4991C>T | p.Ser1664Phe | Missense | 32/67 | - |
| 9-104133461-T-C | BAAT | c.226A>G | p.Met76Val | Missense | 2/4 | - |
| 19-45322962-A-T | BCAM | c.1742A>T | p.Gln581Leu | Missense | 13/15 | - |
| 7-65554101-A-G | ASL | c.857A>G | p.Gln286Arg | Missense | 12/17 | - |
| 4-6303693-C-T | WFS1 | c.2171C>T | p.Pro724Leu | Missense | 8/8 | - |
| 5-112175240-G-C | APC | c.3949G>C | p.Glu1317Gln | Missense | 16/16 | - |
| 12-121622304-A-G | P2RX7 | c.1487A>G | p.Glu496Gly | Missense | 13/13 | - |
| 8-6728298-C-T | DEFB1 | c.112G>A | p.Val38Ile | Missense | 2/2 | - |
| 14-73673178-A-G | PSEN1 | c.953A>G | p.Glu318Gly | Missense | 9/12 | - |
| 17-15134248-G-A | PMP22 | c.469C>T | p.Arg157Trp | Missense | 5/5 | - |
| 17-15134248-G-T | PMP22 | c.469C>A | p.Arg157Arg | Synonymous | 5/5 | - |
| 2-190719499-G-A | PMS1 | c.1501G>A | p.Gly501Arg | Missense | 9/13 | - |
| 10-96827030-C-A | CYP2C8 | c.416G>T | p.Arg139Met | Missense | 3/9 | - |
| X-30322790-T-C | NR0B1 | c.1319A>G | p.Asn440Ser | Missense | 2/2 | - |
| X-30322790-T-A | NR0B1 | c.1319A>T | p.Asn440Ile | Missense | 2/2 | - |
| 12-103234252-T-C | PAH | c.1241A>G | p.Tyr414Cys | Missense | 12/13 | - |
| 22-51064699-T-G | ARSA | c.862A>C | p.Thr288Pro | Missense | 5/8 | - |
| 12-10313448-C-G | OLR1 | c.501G>C | p.Lys167Asn | Missense | 4/6 | - |
| 15-48779514-C-T | FBN1 | c.3458G>A | p.Cys1153Tyr | Missense | 28/66 | - |
| 3-10183808-G-T | VHL | c.277G>T | p.Gly93Cys | Missense | 1/3 | - |
| 10-96535246-G-C | CYP2C19 | c.431G>C | p.Arg144Pro | Missense | 3/9 | - |
| 10-96535246-G-A | CYP2C19 | c.431G>A | p.Arg144His | Missense | 3/9 | - |
| X-54496615-G-A | FGD1 | c.935C>T | p.Pro312Leu | Missense | 4/18 | - |
| 14-23898488-G-A | MYH7 | c.1207C>T | p.Arg403Trp | Missense | 13/40 | - |
| 14-23898488-G-C | MYH7 | c.1207C>G | p.Arg403Gly | Missense | 13/40 | - |
| 20-4705718-C-G | PRND | c.521C>G | p.Thr174Arg | Missense | 2/2 | - |
| 3-129252554-C-A | RHO | c.1040C>A | p.Pro347Gln | Missense | 5/5 | - |
| 20-4705718-C-T | PRND | c.521C>T | p.Thr174Met | Missense | 2/2 | - |
| 7-44104896-C-A | PGAM2 | c.233G>T | p.Trp78Leu | Missense | 1/3 | - |
| 11-2591882-G-A | KCNQ1 | c.502G>A | p.Gly168Arg | Missense | 3/16 | - |
| 11-61723297-G-C | BEST1 | c.355G>C | p.Glu119Gln | Missense | 4/11 | - |
| X-153762655-T-A | G6PD | c.632A>T | p.Asp211Val | Missense | 6/13 | - |
| 11-61723297-G-T | BEST1 | c.355G>T | p.Glu119* | Nonsense | 4/11 | - |
| 1-242042364-A-G | EXO1 | c.1828A>G | p.Ser610Gly | Missense | 11/14 | - |
| 3-48617744-G-A | COL7A1 | c.5086C>T | p.Arg1696Cys | Missense | 55/118 | - |
| 7-107350627-G-A | SLC26A4 | c.2218G>A | p.Gly740Ser | Missense | 19/21 | - |
| 1-97544627-C-A | DPYD | c.2983G>T | p.Val995Phe | Missense | 23/23 | - |
| 19-5832209-G-A | FUT6 | c.370C>T | p.Pro124Ser | Missense | 3/3 | - |
| 14-24839083-G-A | NFATC4 | c.479G>A | p.Gly160Asp | Missense | 2/10 | - |
| 1-171168584-C-A | FMO2 | c.584C>A | p.Ser195* | Nonsense | 5/9 | - |
| X-100653783-T-A | GLA | c.791A>T | p.Asp264Val | Missense | 5/7 | - |
| 7-117307076-C-G | CFTR | c.4357C>G | p.Arg1453Gly | Missense | 27/27 | - |
| 11-2604765-C-A | KCNQ1 | c.1022C>A | p.Ala341Glu | Missense | 7/16 | - |
| 1-119958071-C-T | HSD3B2 | c.29C>T | p.Ala10Val | Missense | 2/4 | - |
| 1-119958071-C-A | HSD3B2 | c.29C>A | p.Ala10Glu | Missense | 2/4 | - |
| 4-187476360-G-A | MTNR1A | c.160C>T | p.Arg54Trp | Missense | 1/2 | - |
| 4-187476360-G-C | MTNR1A | c.160C>G | p.Arg54Gly | Missense | 1/2 | - |
| 17-41244130-T-G | BRCA1 | c.3418A>C | p.Ser1140Arg | Missense | 10/23 | - |
| 17-41244130-T-C | BRCA1 | c.3418A>G | p.Ser1140Gly | Missense | 10/23 | - |
| 7-107350627-G-T | SLC26A4 | c.2218G>T | p.Gly740Cys | Missense | 19/21 | - |
| 7-99367427-C-T | CYP3A4 | c.485G>A | p.Arg162Gln | Missense | 6/13 | - |
| 17-7577511-A-G | TP53 | c.770T>C | p.Leu257Pro | Missense | 7/11 | - |
| 3-57232504-T-C | HESX1 | c.374A>G | p.Asn125Ser | Missense | 3/4 | - |
| 1-24124650-T-C | GALE | c.308A>G | p.Asp103Gly | Missense | 5/12 | - |
| 1-171168584-C-G | FMO2 | c.584C>G | p.Ser195* | Nonsense | 5/9 | - |
| 1-171168584-C-T | FMO2 | c.584C>T | p.Ser195Leu | Missense | 5/9 | - |
| 3-10191581-C-G | VHL | c.574C>G | p.Pro192Ala | Missense | 3/3 | - |
| 13-32953971-C-T | BRCA2 | c.9038C>T | p.Thr3013Ile | Missense | 23/27 | - |
| 11-108098576-C-G | ATM | c.146C>G | p.Ser49Cys | Missense | 3/63 | - |
| 1-94487443-C-T | ABCA4 | c.4732G>A | p.Gly1578Arg | Missense | 33/50 | - |
| 11-2604765-C-T | KCNQ1 | c.1022C>T | p.Ala341Val | Missense | 7/16 | - |
| 1-171083398-T-C | FMO3 | c.1079T>C | p.Leu360Pro | Missense | 7/9 | - |
| 16-2152865-C-G | PKD1 | c.8898G>C | p.Glu2966Asp | Missense | 24/46 | - |
| 16-2152865-C-A | PKD1 | c.8898G>T | p.Glu2966Asp | Missense | 24/46 | - |
| 1-25627494-T-A | RHD | c.544T>A | p.Ser182Thr | Missense | 4/10 | - |
| 6-78172750-A-G | HTR1B | c.371T>C | p.Phe124Ser | Missense | 1/1 | - |
| 3-10183739-G-A | VHL | c.208G>A | p.Glu70Lys | Missense | 1/3 | - |
| 22-42524817-C-G | CYP2D6 | c.635G>C | p.Gly212Ala | Missense | 4/9 | - |
| 1-201022666-C-T | CACNA1S | c.3716G>A | p.Arg1239His | Missense | 30/44 | - |
| 4-23814707-G-T | PPARGC1A | c.1835C>A | p.Thr612Lys | Missense | 9/13 | - |
| 4-23814707-G-A | PPARGC1A | c.1835C>T | p.Thr612Met | Missense | 9/13 | - |
| 14-75516289-G-C | MLH3 | c.70C>G | p.Gln24Glu | Missense | 2/12 | - |
| 1-197396689-C-A | CRB1 | c.2234C>A | p.Thr745Lys | Missense | 7/12 | - |
| 4-186066117-A-G | SLC25A4 | c.311A>G | p.Asp104Gly | Missense | 2/4 | - |
| 1-97564154-C-T | DPYD | c.2657G>A | p.Arg886His | Missense | 21/23 | - |
| 17-41258504-A-G | BRCA1 | c.181T>C | p.Cys61Arg | Missense | 4/23 | - |
| 11-61727002-G-C | BEST1 | c.900G>C | p.Glu300Asp | Missense | 8/11 | - |
| 3-57233870-A-G | HESX1 | c.77T>C | p.Ile26Thr | Missense | 1/4 | - |
| 7-117180248-G-A | CFTR | c.964G>A | p.Val322Met | Missense | 8/27 | - |
| 11-47361308-C-T | MYBPC3 | c.1961G>A | p.Arg654His | Missense | 21/35 | - |
| 6-160677669-C-G | SLC22A2 | c.495G>C | p.Met165Ile | Missense | 2/11 | - |
| 6-160677669-C-T | SLC22A2 | c.495G>A | p.Met165Ile | Missense | 2/11 | - |
| 3-10191555-C-T | VHL | c.548C>T | p.Ser183Leu | Missense | 3/3 | - |
| 7-150648703-A-C | KCNH2 | c.1778T>G | p.Ile593Arg | Missense | 7/15 | - |
| 12-103246654-G-C | PAH | c.781C>G | p.Arg261Gly | Missense | 7/13 | - |
| 12-103246654-G-A | PAH | c.781C>T | p.Arg261* | Nonsense | 7/13 | - |
| 10-95556839-T-G | LGI1 | c.953T>G | p.Phe318Cys | Missense | 8/8 | - |
| 18-3457439-A-T | TGIF1 | c.707A>T | p.Gln236Leu | Missense | 3/3 | - |
| 22-18905934-A-G | PRODH | c.1322T>C | p.Leu441Pro | Missense | 12/15 | - |
| 17-42328621-G-A | SLC4A1 | c.2561C>T | p.Pro854Leu | Missense | 19/20 | - |
| 12-52886453-A-G | KRT6A | c.520T>C | p.Phe174Leu | Missense | 1/9 | - |
| 12-52886453-A-C | KRT6A | c.520T>G | p.Phe174Val | Missense | 1/9 | - |
| 17-78086721-C-A | GAA | c.1935C>A | p.Asp645Glu | Missense | 14/20 | - |
| 17-78086721-C-T | GAA | c.1935C>T | p.Asp645Asp | Synonymous | 14/20 | - |
| 11-108098576-C-T | ATM | c.146C>T | p.Ser49Phe | Missense | 3/63 | - |
| 7-150648703-A-G | KCNH2 | c.1778T>C | p.Ile593Thr | Missense | 7/15 | - |
| 11-61725631-C-T | BEST1 | c.728C>T | p.Ala243Val | Missense | 7/11 | - |
| 15-48787416-G-A | FBN1 | c.2581C>T | p.Arg861* | Nonsense | 22/66 | - |
| 13-52513266-T-C | ATP7B | c.3620A>G | p.His1207Arg | Missense | 17/21 | - |
| 12-103245479-C-A | PAH | c.898G>T | p.Ala300Ser | Missense | 8/13 | - |
| 17-39780470-A-C | KRT17 | c.292T>G | p.Tyr98Asp | Missense | 1/8 | - |
| 1-24124689-C-T | GALE | c.269G>A | p.Gly90Glu | Missense | 5/12 | - |
| 12-50344783-A-C | AQP2 | c.170A>C | p.Gln57Pro | Missense | 1/4 | - |
| 1-171173089-G-A | FMO2 | c.713G>A | p.Arg238Gln | Missense | 6/9 | - |
| 22-42525035-C-G | CYP2D6 | c.505G>C | p.Gly169Arg | Missense | 3/9 | - |
| 17-41244435-T-G | BRCA1 | c.3113A>C | p.Glu1038Ala | Missense | 10/23 | - |
| 5-149361221-A-G | SLC26A2 | c.2065A>G | p.Thr689Ala | Missense | 3/3 | - |
| 1-171605384-C-A | MYOC | c.1196G>T | p.Gly399Val | Missense | 3/3 | - |
| 5-149361221-A-T | SLC26A2 | c.2065A>T | p.Thr689Ser | Missense | 3/3 | - |
| 3-361508-C-T | CHL1 | c.49C>T | p.Leu17Phe | Missense | 3/28 | - |
| 7-113518434-C-A | PPP1R3A | c.2713G>T | p.Asp905Tyr | Missense | 4/4 | - |
| 13-32953550-G-A | BRCA2 | c.8851G>A | p.Ala2951Thr | Missense | 22/27 | - |
| 3-10191507-G-A | VHL | c.500G>A | p.Arg167Gln | Missense | 3/3 | - |
| 7-65547430-C-T | ASL | c.283C>T | p.Arg95Cys | Missense | 4/17 | - |
| 3-10191507-G-C | VHL | c.500G>C | p.Arg167Pro | Missense | 3/3 | - |
| 3-10191507-G-T | VHL | c.500G>T | p.Arg167Leu | Missense | 3/3 | - |
| 21-35742802-C-G | KCNE2 | c.25C>G | p.Gln9Glu | Missense | 2/2 | - |
| 7-117250575-G-C | CFTR | c.2991G>C | p.Leu997Phe | Missense | 19/27 | - |
| 18-21119787-T-G | NPC1 | c.2783A>C | p.Gln928Pro | Missense | 18/25 | - |
| 10-50678722-G-A | ERCC6 | c.3284C>T | p.Pro1095Leu | Missense | 18/21 | - |
| 10-50678722-G-C | ERCC6 | c.3284C>G | p.Pro1095Arg | Missense | 18/21 | - |
| 16-20360316-C-A | UMOD | c.307G>T | p.Gly103Cys | Missense | 3/11 | - |
| 7-154862652-C-A | HTR5A | c.43C>A | p.Pro15Thr | Missense | 1/2 | - |
| 15-48756162-C-G | FBN1 | c.4999G>C | p.Val1667Leu | Missense | 41/66 | - |
| 19-41354629-C-A | CYP2A6 | c.383G>T | p.Arg128Leu | Missense | 3/9 | - |
| 18-58039301-G-A | MC4R | c.282C>T | p.Ser94Ser | Synonymous | 1/1 | - |
| 18-58039301-G-C | MC4R | c.282C>G | p.Ser94Arg | Missense | 1/1 | - |
| 16-20360316-C-T | UMOD | c.307G>A | p.Gly103Ser | Missense | 3/11 | - |
| 17-41256266-T-C | BRCA1 | c.314A>G | p.Tyr105Cys | Missense | 6/23 | - |
| 4-111542459-C-A | PITX2 | c.272G>T | p.Arg91Leu | Missense | 2/3 | - |
| 10-117849353-T-C | GFRA1 | c.1081A>G | p.Thr361Ala | Missense | 7/9 | - |
| 19-41354629-C-G | CYP2A6 | c.383G>C | p.Arg128Pro | Missense | 3/9 | - |
| 1-196716319-C-T | CFH | c.3572C>T | p.Ser1191Leu | Missense | 22/22 | - |
| 21-35742802-C-T | KCNE2 | c.25C>T | p.Gln9* | Nonsense | 2/2 | - |
| 11-17409199-A-G | KCNJ11 | c.440T>C | p.Leu147Pro | Missense | 1/1 | - |
| 1-43805767-C-T | MPL | c.823C>T | p.Pro275Ser | Missense | 5/12 | - |
| 1-43805767-C-A | MPL | c.823C>A | p.Pro275Thr | Missense | 5/12 | - |
| 9-21971116-G-A | CDKN2A | c.242C>T | p.Pro81Leu | Missense | 2/3 | - |
| 9-21971116-G-C | CDKN2A | c.242C>G | p.Pro81Arg | Missense | 2/3 | - |
| 14-75514489-C-G | MLH3 | c.1870G>C | p.Glu624Gln | Missense | 2/12 | - |
| 15-48756162-C-T | FBN1 | c.4999G>A | p.Val1667Ile | Missense | 41/66 | - |
| 17-41243509-T-A | BRCA1 | c.4039A>T | p.Arg1347* | Nonsense | 10/23 | - |
| 7-75614497-G-C | POR | c.1370G>C | p.Arg457Pro | Missense | 12/16 | - |
| 7-75614497-G-A | POR | c.1370G>A | p.Arg457His | Missense | 12/16 | - |
| 17-41243509-T-C | BRCA1 | c.4039A>G | p.Arg1347Gly | Missense | 10/23 | - |
| X-153296882-G-C | MECP2 | c.397C>G | p.Arg133Gly | Missense | 4/4 | - |
| X-30326608-C-G | NR0B1 | c.873G>C | p.Trp291Cys | Missense | 1/2 | - |
| 18-55247336-C-T | FECH | c.163G>A | p.Gly55Ser | Missense | 2/11 | - |
| 22-42525811-T-A | CYP2D6 | c.281A>T | p.His94Leu | Missense | 2/9 | - |
| 13-32914236-C-T | BRCA2 | c.5744C>T | p.Thr1915Met | Missense | 11/27 | - |
| 10-43620335-C-T | RET | c.2944C>T | p.Arg982Cys | Missense | 18/20 | - |
| 21-44480590-C-G | CBS | c.1106G>C | p.Arg369Pro | Missense | 12/17 | - |
| 15-48782144-A-G | FBN1 | c.2986T>C | p.Cys996Arg | Missense | 25/66 | - |
| 1-94476377-C-T | ABCA4 | c.5693G>A | p.Arg1898His | Missense | 40/50 | - |
| 17-41245471-C-A | BRCA1 | c.2077G>T | p.Asp693Tyr | Missense | 10/23 | - |
| 2-227660781-T-C | IRS1 | c.2674A>G | p.Ser892Gly | Missense | 1/2 | - |
| 17-41245471-C-T | BRCA1 | c.2077G>A | p.Asp693Asn | Missense | 10/23 | - |
| 15-80472526-C-T | FAH | c.1021C>T | p.Arg341Trp | Missense | 12/14 | - |
| 1-160105036-G-A | ATP1A2 | c.2066G>A | p.Arg689Gln | Missense | 15/23 | - |
| 2-38298139-T-G | CYP1B1 | c.1358A>C | p.Asn453Thr | Missense | 3/3 | - |
| 10-95557034-A-C | LGI1 | c.1148A>C | p.Glu383Ala | Missense | 8/8 | - |
| 1-171076966-G-A | FMO3 | c.472G>A | p.Glu158Lys | Missense | 4/9 | - |
| 11-61723221-G-C | BEST1 | c.279G>C | p.Trp93Cys | Missense | 4/11 | - |
| 11-108170506-A-C | ATM | c.5071A>C | p.Ser1691Arg | Missense | 34/63 | - |
| 1-242048680-G-A | EXO1 | c.2276G>A | p.Gly759Glu | Missense | 13/14 | - |
| 13-32968940-A-G | BRCA2 | c.9371A>G | p.Asn3124Ser | Missense | 25/27 | - |
| 7-99358459-G-C | CYP3A4 | c.1396C>G | p.Pro466Ala | Missense | 12/13 | - |
| 10-43615094-C-T | RET | c.2508C>T | p.Ser836Ser | Synonymous | 14/20 | - |
| 17-33904464-T-A | PEX12 | c.273A>T | p.Arg91Ser | Missense | 2/3 | - |
| 12-14993909-C-A | ART4 | c.323G>T | p.Gly108Val | Missense | 2/3 | - |
| 14-94845845-C-T | SERPINA1 | c.1021G>A | p.Asp341Asn | Missense | 4/5 | - |
| 17-48245014-C-T | SGCA | c.229C>T | p.Arg77Cys | Missense | 3/10 | - |
| 13-52532509-C-T | ATP7B | c.2293G>A | p.Asp765Asn | Missense | 8/21 | - |
| X-153599369-T-A | FLNA | c.245A>T | p.Glu82Val | Missense | 2/48 | - |
| 9-100616366-G-A | FOXE1 | c.170G>A | p.Ser57Asn | Missense | 1/1 | - |
| 18-21115647-T-C | NPC1 | c.3263A>G | p.Tyr1088Cys | Missense | 22/25 | - |
| 13-20763245-T-A | GJB2 | c.476A>T | p.Asp159Val | Missense | 2/2 | - |
| 3-10188210-T-G | VHL | c.353T>G | p.Leu118Arg | Missense | 2/3 | - |
| 16-20360316-C-G | UMOD | c.307G>C | p.Gly103Arg | Missense | 3/11 | - |
| 1-156084963-T-G | LMNA | c.254T>G | p.Leu85Arg | Missense | 1/12 | - |
| X-153595873-C-T | FLNA | c.760G>A | p.Glu254Lys | Missense | 5/48 | - |
| 7-142651354-G-A | KEL | c.841C>T | p.Arg281Trp | Missense | 8/19 | - |
| 10-81372081-A-G | SFTPA1 | c.186A>G | p.Pro62Pro | Synonymous | 4/6 | - |
| 9-131110892-G-A | SLC27A4 | c.625G>A | p.Gly209Ser | Missense | 4/13 | - |
| 1-43804305-G-A | MPL | c.305G>A | p.Arg102His | Missense | 3/12 | - |
| 13-20763573-C-A | GJB2 | c.148G>T | p.Asp50Tyr | Missense | 2/2 | - |
| 13-20763573-C-T | GJB2 | c.148G>A | p.Asp50Asn | Missense | 2/2 | - |
| 13-20763497-C-T | GJB2 | c.224G>A | p.Arg75Gln | Missense | 2/2 | - |
| 1-94544234-T-C | ABCA4 | c.1268A>G | p.His423Arg | Missense | 10/50 | - |
| 1-94544234-T-G | ABCA4 | c.1268A>C | p.His423Pro | Missense | 10/50 | - |
| 13-108863609-G-A | LIG4 | c.8C>T | p.Ala3Val | Missense | 2/2 | - |
| 19-41352941-A-G | CYP2A6 | c.670T>C | p.Ser224Pro | Missense | 5/9 | - |
| 16-67516945-C-T | AGRP | c.199G>A | p.Ala67Thr | Missense | 3/4 | - |
| 13-108863609-G-T | LIG4 | c.8C>A | p.Ala3Asp | Missense | 2/2 | - |
| 11-17417206-G-A | ABCC8 | c.4258C>T | p.Arg1420Cys | Missense | 35/39 | - |
| 1-43804340-G-A | MPL | c.340G>A | p.Val114Met | Missense | 3/12 | - |
| 17-41246061-C-A | BRCA1 | c.1487G>T | p.Arg496Leu | Missense | 10/23 | - |
| 1-35260769-C-G | GJA4 | c.955C>G | p.Pro319Ala | Missense | 2/2 | - |
| X-43809077-G-T | NDP | c.370C>A | p.Leu124Ile | Missense | 3/3 | - |
| X-43809077-G-A | NDP | c.370C>T | p.Leu124Phe | Missense | 3/3 | - |
| 17-41246061-C-T | BRCA1 | c.1487G>A | p.Arg496His | Missense | 10/23 | - |
| 17-54671687-C-G | NOG | c.103C>G | p.Pro35Ala | Missense | 1/1 | - |
| 4-1803571-C-G | FGFR3 | c.749C>G | p.Pro250Arg | Missense | 7/18 | - |
| 4-1803571-C-T | FGFR3 | c.749C>T | p.Pro250Leu | Missense | 7/18 | - |
| 4-1803571-C-A | FGFR3 | c.749C>A | p.Pro250Gln | Missense | 7/18 | - |
| 3-10183868-C-T | VHL | c.337C>T | p.Arg113* | Nonsense | 1/3 | - |
| 4-2906707-G-A | ADD1 | c.1378G>A | p.Gly460Arg | Missense | 10/15 | - |
| 17-3402294-A-C | ASPA | c.854A>C | p.Glu285Ala | Missense | 6/6 | - |
| 5-73992881-A-G | HEXB | c.619A>G | p.Ile207Val | Missense | 5/14 | - |
| 20-57484420-C-G | GNAS | c.601C>G | p.Arg201Gly | Missense | 8/13 | - |
| 20-57484420-C-A | GNAS | c.601C>A | p.Arg201Ser | Missense | 8/13 | - |
| 2-48018236-G-T | MSH6 | c.431G>T | p.Ser144Ile | Missense | 2/10 | - |
| 13-48953730-C-T | RB1 | c.1333C>T | p.Arg445* | Nonsense | 14/27 | - |
| 17-42338945-T-C | SLC4A1 | c.166A>G | p.Lys56Glu | Missense | 4/20 | - |
| 8-27361241-C-T | EPHX2 | c.307C>T | p.Arg103Cys | Missense | 3/19 | - |
| 1-169446685-C-A | SLC19A2 | c.515G>T | p.Gly172Val | Missense | 2/6 | - |
| 1-169446685-C-T | SLC19A2 | c.515G>A | p.Gly172Asp | Missense | 2/6 | - |
| 1-156106776-G-T | LMNA | c.1445G>T | p.Arg482Leu | Missense | 8/12 | - |
| 8-57353895-C-T | PENK | c.740G>A | p.Gly247Asp | Missense | 4/4 | - |
| 1-156106776-G-A | LMNA | c.1445G>A | p.Arg482Gln | Missense | 8/12 | - |
| 7-80290507-T-C | CD36 | c.410T>C | p.Val137Ala | Missense | 5/14 | - |
| 19-45315445-G-A | BCAM | c.230G>A | p.Arg77His | Missense | 3/15 | - |
| 19-45315445-G-C | BCAM | c.230G>C | p.Arg77Pro | Missense | 3/15 | - |
| 18-58039203-G-A | MC4R | c.380C>T | p.Ser127Leu | Missense | 1/1 | - |
| 1-156104288-A-G | LMNA | c.608A>G | p.Glu203Gly | Missense | 3/12 | - |
| 17-39780481-C-G | KRT17 | c.281G>C | p.Arg94Pro | Missense | 1/8 | - |
| 16-20359974-A-G | UMOD | c.649T>C | p.Cys217Arg | Missense | 3/11 | - |
| 16-20359974-A-C | UMOD | c.649T>G | p.Cys217Gly | Missense | 3/11 | - |
| 1-207782889-A-G | CR1 | c.4801A>G | p.Arg1601Gly | Missense | 29/39 | - |
| 7-117243828-T-C | CFTR | c.2900T>C | p.Leu967Ser | Missense | 17/27 | - |
| 3-170732328-C-T | SLC2A2 | c.301G>A | p.Val101Ile | Missense | 3/11 | - |
| 12-52309267-G-A | ACVRL1 | c.1031G>A | p.Cys344Tyr | Missense | 7/10 | - |
| 17-7578479-G-T | TP53 | c.451C>A | p.Pro151Thr | Missense | 5/11 | - |
| 17-39768558-A-T | KRT16 | c.383T>A | p.Leu128Gln | Missense | 1/8 | - |
| 15-48766790-T-C | FBN1 | c.4022A>G | p.Asn1341Ser | Missense | 33/66 | - |
| 11-88027331-T-C | CTSC | c.1235A>G | p.Tyr412Cys | Missense | 7/7 | - |
| 7-117199643-C-G | CFTR | c.1518C>G | p.Ile506Met | Missense | 11/27 | - |
| 3-37053550-G-A | MLH1 | c.637G>A | p.Val213Met | Missense | 8/19 | - |
| 1-25717308-G-T | RHCE | c.733C>A | p.Leu245Ile | Missense | 5/10 | - |
| 11-47359046-G-A | MYBPC3 | c.2498C>T | p.Ala833Val | Missense | 25/35 | - |
| 12-110719662-G-A | ATP2A2 | c.68G>A | p.Gly23Glu | Missense | 1/21 | - |
| 19-46181392-G-C | GIPR | c.1060G>C | p.Glu354Gln | Missense | 12/14 | - |
| 18-58039090-G-A | MC4R | c.493C>T | p.Arg165Trp | Missense | 1/1 | - |
| 14-36986976-C-A | NKX2-1 | c.623G>T | p.Trp208Leu | Missense | 2/2 | - |
| 14-36986976-C-T | NKX2-1 | c.623G>A | p.Trp208* | Nonsense | 2/2 | - |
| 9-34647187-C-A | GALT | c.184C>A | p.Leu62Met | Missense | 2/11 | - |
| 7-99366081-A-G | CYP3A4 | c.566T>C | p.Phe189Ser | Missense | 7/13 | - |
| 11-88911386-T-C | TYR | c.265T>C | p.Cys89Arg | Missense | 1/5 | - |
| 16-88714511-C-T | CYBA | c.70G>A | p.Gly24Arg | Missense | 2/6 | - |
| 16-3807895-T-C | CREBBP | c.3524A>G | p.Tyr1175Cys | Missense | 18/31 | - |
| 10-72358722-T-C | PRF1 | c.755A>G | p.Asn252Ser | Missense | 3/3 | - |
| 1-9323910-G-C | H6PD | c.1358G>C | p.Arg453Pro | Missense | 5/5 | - |
| 1-9323910-G-A | H6PD | c.1358G>A | p.Arg453Gln | Missense | 5/5 | - |
| 11-27680107-G-A | BDNF | c.5C>T | p.Thr2Ile | Missense | 1/1 | - |
| 19-5844792-A-T | FUT3 | c.59T>A | p.Leu20Gln | Missense | 3/3 | - |
| 20-4680378-A-G | PRNP | c.512A>G | p.Asn171Ser | Missense | 2/2 | - |
| 19-41354629-C-T | CYP2A6 | c.383G>A | p.Arg128Gln | Missense | 3/9 | - |
| 19-45316704-T-A | BCAM | c.611T>A | p.Met204Lys | Missense | 6/15 | - |
| 18-58039301-G-T | MC4R | c.282C>A | p.Ser94Arg | Missense | 1/1 | - |
| 11-108128319-A-C | ATM | c.2362A>C | p.Ser788Arg | Missense | 15/63 | - |
| 19-5844792-A-C | FUT3 | c.59T>G | p.Leu20Arg | Missense | 3/3 | - |
| 19-5844792-A-G | FUT3 | c.59T>C | p.Leu20Pro | Missense | 3/3 | - |
| 1-92941647-T-C | GFI1 | c.1208A>G | p.Lys403Arg | Missense | 7/7 | - |
| 3-10188200-C-T | VHL | c.343C>T | p.His115Tyr | Missense | 2/3 | - |
| 18-21115443-T-A | NPC1 | c.3467A>T | p.Asn1156Ile | Missense | 22/25 | - |
| 1-196695742-A-G | CFH | c.2016A>G | p.Gln672Gln | Synonymous | 13/22 | - |
| 7-117251695-C-G | CFTR | c.3200C>G | p.Ala1067Gly | Missense | 20/27 | - |
| 3-170732300-G-A | SLC2A2 | c.329C>T | p.Thr110Ile | Missense | 3/11 | - |
| 7-117251695-C-T | CFTR | c.3200C>T | p.Ala1067Val | Missense | 20/27 | - |
| 7-117251695-C-A | CFTR | c.3200C>A | p.Ala1067Asp | Missense | 20/27 | - |
| 3-10183770-G-T | VHL | c.239G>T | p.Ser80Ile | Missense | 1/3 | - |
| 22-37333657-C-A | CSF2RB | c.1807C>A | p.Pro603Thr | Missense | 14/14 | - |
| 9-97912307-T-A | FANCC | c.584A>T | p.Asp195Val | Missense | 7/15 | - |
| 21-35742799-A-G | KCNE2 | c.22A>G | p.Thr8Ala | Missense | 2/2 | - |
| 21-44479037-G-A | CBS | c.1265C>T | p.Pro422Leu | Missense | 14/17 | - |
| 22-42523858-T-G | CYP2D6 | c.971A>C | p.His324Pro | Missense | 6/9 | - |
| 1-97981421-C-T | DPYD | c.1601G>A | p.Ser534Asn | Missense | 13/23 | - |
| 12-103246666-C-A | PAH | c.769G>T | p.Gly257Cys | Missense | 7/13 | - |
| 10-81373777-C-A | SFTPA1 | c.655C>A | p.Arg219Arg | Synonymous | 6/6 | - |
| 10-81373777-C-T | SFTPA1 | c.655C>T | p.Arg219Trp | Missense | 6/6 | - |
| 17-12915009-G-A | ELAC2 | c.560-1021C>T | - | IntronicSNV | - | 6/22 |
| 17-3402354-C-A | ASPA | c.914C>A | p.Ala305Glu | Missense | 6/6 | - |
| 17-12915009-G-C | ELAC2 | c.560-1021C>G | - | IntronicSNV | - | 6/22 |
| 13-32945108-T-C | BRCA2 | c.8503T>C | p.Ser2835Pro | Missense | 20/27 | - |
| 18-21118615-G-A | NPC1 | c.2932C>T | p.Arg978Cys | Missense | 20/25 | - |
| 4-6303606-G-A | WFS1 | c.2084G>A | p.Gly695Asp | Missense | 8/8 | - |
| 17-7577120-C-G | TP53 | c.818G>C | p.Arg273Pro | Missense | 8/11 | - |
| 4-6303606-G-T | WFS1 | c.2084G>T | p.Gly695Val | Missense | 8/8 | - |
| 19-5844043-C-T | FUT3 | c.808G>A | p.Val270Met | Missense | 3/3 | - |
| 11-2188225-T-G | TH | c.733A>C | p.Thr245Pro | Missense | 7/13 | - |
| 5-172662014-G-A | NKX2-5 | c.73C>T | p.Arg25Cys | Missense | 1/2 | - |
| 8-18080001-G-A | NAT1 | c.445G>A | p.Val149Ile | Missense | 3/3 | - |
| 14-23894525-C-T | MYH7 | c.2389G>A | p.Ala797Thr | Missense | 21/40 | - |
| 13-33628138-T-G | KL | c.1054T>G | p.Phe352Val | Missense | 2/5 | - |
| 13-33628138-T-A | KL | c.1054T>A | p.Phe352Ile | Missense | 2/5 | - |
| 22-51064416-T-C | ARSA | c.1055A>G | p.Asn352Ser | Missense | 6/8 | - |
| 5-7885907-C-A | MTRR | c.997C>A | p.Leu333Ile | Missense | 7/15 | - |
| 7-117180336-C-T | CFTR | c.1052C>T | p.Thr351Ile | Missense | 8/27 | - |
| 18-58039041-C-T | MC4R | c.542G>A | p.Gly181Asp | Missense | 1/1 | - |
| 6-49580247-C-T | RHAG | c.808G>A | p.Val270Ile | Missense | 6/10 | - |
| 9-97912307-T-C | FANCC | c.584A>G | p.Asp195Gly | Missense | 7/15 | - |
| 19-18896846-T-C | COMP | c.1418A>G | p.Asp473Gly | Missense | 13/19 | - |
| 14-23894525-C-G | MYH7 | c.2389G>C | p.Ala797Pro | Missense | 21/40 | - |
| 14-23894525-C-A | MYH7 | c.2389G>T | p.Ala797Ser | Missense | 21/40 | - |
| 3-10183764-A-G | VHL | c.233A>G | p.Asn78Ser | Missense | 1/3 | - |
| 3-10183764-A-T | VHL | c.233A>T | p.Asn78Ile | Missense | 1/3 | - |
| 3-10183764-A-C | VHL | c.233A>C | p.Asn78Thr | Missense | 1/3 | - |
| 3-24164404-G-T | THRB | c.1357C>A | p.Pro453Thr | Missense | 10/10 | - |
| X-153296882-G-T | MECP2 | c.397C>A | p.Arg133Ser | Missense | 4/4 | - |
| 7-142640113-A-G | KEL | c.1790T>C | p.Leu597Pro | Missense | 17/19 | - |
| 3-121980562-G-A | CASR | c.680G>A | p.Arg227Gln | Missense | 4/7 | - |
| 5-149433645-T-C | CSF1R | c.2906A>G | p.Tyr969Cys | Missense | 22/22 | - |
| 2-47643457-G-T | MSH2 | c.965G>T | p.Gly322Val | Missense | 6/16 | - |
| 2-47643457-G-A | MSH2 | c.965G>A | p.Gly322Asp | Missense | 6/16 | - |
| 12-103234285-G-A | PAH | c.1208C>T | p.Ala403Val | Missense | 12/13 | - |
| 2-38298092-G-A | CYP1B1 | c.1405C>T | p.Arg469Trp | Missense | 3/3 | - |
| 17-39780478-A-G | KRT17 | c.284T>C | p.Leu95Pro | Missense | 1/8 | - |
| 17-39780478-A-T | KRT17 | c.284T>A | p.Leu95Gln | Missense | 1/8 | - |
| 13-20797357-G-A | GJB6 | c.263C>T | p.Ala88Val | Missense | 5/5 | - |
| 1-19992513-C-T | HTR6 | c.267C>T | p.Tyr89Tyr | Synonymous | 1/3 | - |
| 3-138664793-A-T | FOXL2 | c.772T>A | p.Tyr258Asn | Missense | 1/1 | - |
| 1-24122692-G-T | GALE | c.937C>A | p.Leu313Met | Missense | 11/12 | - |
| X-153170618-A-T | AVPR2 | c.19A>T | p.Thr7Ser | Missense | 2/4 | - |
| 1-171174762-G-C | FMO2 | c.1172G>C | p.Arg391Thr | Missense | 7/9 | - |
| 1-24194748-G-A | FUCA1 | c.29C>T | p.Pro10Leu | Missense | 1/8 | - |
| 1-24194748-G-C | FUCA1 | c.29C>G | p.Pro10Arg | Missense | 1/8 | - |
| 1-216424275-C-G | USH2A | c.2137G>C | p.Gly713Arg | Missense | 12/21 | - |
| 3-10188210-T-C | VHL | c.353T>C | p.Leu118Pro | Missense | 2/3 | - |
| 18-58038852-G-T | MC4R | c.731C>A | p.Ala244Glu | Missense | 1/1 | - |
| 1-216424275-C-T | USH2A | c.2137G>A | p.Gly713Ser | Missense | 12/21 | - |
| 7-117267592-G-A | CFTR | c.3485G>A | p.Arg1162Gln | Missense | 22/27 | - |
| 7-117267592-G-T | CFTR | c.3485G>T | p.Arg1162Leu | Missense | 22/27 | - |
| 3-10191555-C-G | VHL | c.548C>G | p.Ser183Trp | Missense | 3/3 | - |
| 19-5843784-A-T | FUT3 | c.1067T>A | p.Ile356Lys | Missense | 3/3 | - |
| 17-70118921-C-T | SOX9 | c.493C>T | p.His165Tyr | Missense | 2/3 | - |
| 1-94487490-A-G | ABCA4 | c.4685T>C | p.Ile1562Thr | Missense | 33/50 | - |
| 11-61723221-G-A | BEST1 | c.279G>A | p.Trp93* | Nonsense | 4/11 | - |
| 13-32912750-G-T | BRCA2 | c.4258G>T | p.Asp1420Tyr | Missense | 11/27 | - |
| 12-103246681-G-A | PAH | c.754C>T | p.Arg252Trp | Missense | 7/13 | - |
| X-100653551-A-T | GLA | c.806T>A | p.Val269Glu | Missense | 6/7 | - |
| 18-12028109-C-T | IMPA2 | c.558C>T | p.Phe186Phe | Synonymous | 6/8 | - |