| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| 7-55229255-G-C | EGFR | c.1562G>C | p.Arg521Thr | Missense | 13/28 | - |
| 19-15990431-C-T | CYP4F2 | c.1297G>A | p.Val433Met | Missense | 11/13 | - |
| 1-237048500-A-G | MTR | c.2756A>G | p.Asp919Gly | Missense | 26/33 | - |
| 8-55537779-T-C | RP1 | c.1337T>C | p.Phe446Ser | Missense | 4/4 | - |
| 11-113264331-C-T | ANKK1 | c.314C>T | p.Ser105Phe | Missense | 2/8 | - |
| 4-68619737-T-C | GNRHR | c.317A>G | p.Gln106Arg | Missense | 1/3 | - |
| 1-230845794-A-G | AGT | c.803T>C | p.Met268Thr | Missense | 2/5 | - |
| 14-24730984-C-T | TGM1 | c.425G>A | p.Arg142His | Missense | 3/15 | - |
| 1-94473807-C-T | ABCA4 | c.5882G>A | p.Gly1961Glu | Missense | 42/50 | - |
| 17-37872136-T-C | ERBB2 | c.1457T>C | p.Phe486Ser | Missense | 12/27 | - |
| 17-37879588-A-T | ERBB2 | c.1963A>T | p.Ile655Phe | Missense | 17/27 | - |
| 2-224642493-G-A | AP1S3 | c.97C>T | p.Arg33Trp | Missense | 2/5 | - |
| 10-54531242-G-A | MBL2 | c.154C>T | p.Arg52Cys | Missense | 1/4 | - |
| 12-6442643-C-T | TNFRSF1A | c.362G>A | p.Arg121Gln | Missense | 4/10 | - |
| 12-6443263-G-C | TNFRSF1A | c.187C>G | p.His63Asp | Missense | 2/10 | - |
| 7-75615119-G-A | POR | c.1621G>A | p.Ala541Thr | Missense | 13/16 | - |
| 16-3293257-C-A | MEFV | c.2230G>T | p.Ala744Ser | Missense | 10/10 | - |
| 12-6442643-C-G | TNFRSF1A | c.362G>C | p.Arg121Pro | Missense | 4/10 | - |
| 17-7579533-G-A | TP53 | c.154C>T | p.Gln52* | Nonsense | 4/11 | - |
| 5-148206626-G-T | ADRB2 | c.232G>T | p.Ala78Ser | Missense | 1/1 | - |
| 22-46664412-C-T | TTC38 | c.35C>T | p.Ala12Val | Missense | 2/14 | - |
| 1-100672060-T-A | DBT | c.1150A>T | p.Ser384Cys | Missense | 9/11 | - |
| 1-100672060-T-C | DBT | c.1150A>G | p.Ser384Gly | Missense | 9/11 | - |
| 14-104165753-G-A | XRCC3 | c.722C>T | p.Thr241Met | Missense | 8/10 | - |
| 6-26091207-C-G | HFE | c.215C>G | p.Thr72Ser | Missense | 2/6 | - |
| 10-43596063-GC-AA | RET | c.230_231delGCinsAA | p.Arg77Gln | Missense | 2/20 | - |
| 11-78437262-C-A | TENM4 | c.3412G>T | p.Val1138Leu | Missense | 23/34 | - |
| 4-100263965-C-T | ADH1C | c.815G>A | p.Arg272Gln | Missense | 6/9 | - |
| 11-78437262-C-T | TENM4 | c.3412G>A | p.Val1138Met | Missense | 23/34 | - |
| 2-219135278-C-T | PNKD | c.20C>T | p.Ala7Val | Missense | 1/3 | - |
| 20-52774675-G-C | CYP24A1 | c.1186C>G | p.Arg396Gly | Missense | 9/12 | - |
| 12-53293717-G-A | KRT8 | c.823C>T | p.Arg275Trp | Missense | 5/8 | - |
| 20-52774675-G-A | CYP24A1 | c.1186C>T | p.Arg396Trp | Missense | 9/12 | - |
| 19-41522715-C-A | CYP2B6 | c.1459C>A | p.Arg487Ser | Missense | 9/9 | - |
| 1-94512637-T-C | ABCA4 | c.2756A>G | p.Glu919Gly | Missense | 19/50 | - |
| 19-41522715-C-T | CYP2B6 | c.1459C>T | p.Arg487Cys | Missense | 9/9 | - |
| 11-71148960-G-C | DHCR7 | c.861C>G | p.Asn287Lys | Missense | 8/9 | - |
| 17-37879588-A-G | ERBB2 | c.1963A>G | p.Ile655Val | Missense | 17/27 | - |
| 11-607394-G-C | PHRF1 | c.1935G>C | p.Ala645Ala | Synonymous | 14/18 | - |
| 11-607394-G-A | PHRF1 | c.1935G>A | p.Ala645Ala | Synonymous | 14/18 | - |
| 1-70881670-C-T | CTH | c.200C>T | p.Thr67Ile | Missense | 2/12 | - |
| 3-148714249-G-C | GYG1 | c.304G>C | p.Asp102His | Missense | 3/8 | - |
| 4-100268190-A-C | ADH1C | c.232T>G | - | Missense | 3/9 | - |
| 4-100268190-A-T | ADH1C | c.232T>A | - | Missense | 3/9 | - |
| 5-148206473-G-C | ADRB2 | c.79G>C | p.Glu27Gln | Missense | 1/1 | - |
| 5-148206473-G-T | ADRB2 | c.79G>T | p.Glu27* | Nonsense | 1/1 | - |
| 11-95512060-A-C | FAM76B | c.754T>G | p.Leu252Val | Missense | 8/10 | - |
| 17-48437456-C-T | XYLT2 | c.2402C>T | p.Thr801Ile | Missense | 11/11 | - |
| 11-68846399-A-C | TPCN2 | c.1450A>C | p.Met484Leu | Missense | 16/25 | - |
| 11-68846399-A-T | TPCN2 | c.1450A>T | p.Met484Leu | Missense | 16/25 | - |
| 1-31349604-G-A | SDC3 | c.665C>T | p.Ala222Val | Missense | 3/5 | - |
| 10-96827030-C-T | CYP2C8 | c.416G>A | p.Arg139Lys | Missense | 3/9 | - |
| 17-7579472-G-T | TP53 | c.215C>A | p.Pro72His | Missense | 4/11 | - |
| 11-5255582-C-T | HBD | c.82G>A | p.Ala28Thr | Missense | 1/3 | - |
| 17-48437456-C-G | XYLT2 | c.2402C>G | p.Thr801Arg | Missense | 11/11 | - |
| 16-31105945-C-A | VKORC1 | c.106G>T | p.Asp36Tyr | Missense | 1/3 | - |
| 11-113258712-G-T | ANKK1 | c.106G>T | p.Val36Leu | Missense | 1/8 | - |
| 14-24731434-G-T | TGM1 | c.125C>A | p.Ser42Tyr | Missense | 2/15 | - |
| 11-95512060-A-T | FAM76B | c.754T>A | p.Leu252Met | Missense | 8/10 | - |
| 2-21249767-C-T | APOB | c.2137G>A | p.Asp713Asn | Missense | 15/29 | - |
| 5-148207055-A-G | ADRB2 | c.661A>G | p.Arg221Gly | Missense | 1/1 | - |
| 22-42525772-G-T | CYP2D6 | c.320C>A | p.Thr107Asn | Missense | 2/9 | - |
| 22-42525772-G-A | CYP2D6 | c.320C>T | p.Thr107Ile | Missense | 2/9 | - |
| 17-12899902-C-T | ELAC2 | c.1501G>A | p.Ala501Thr | Missense | 16/23 | - |
| 6-75841700-G-T | COL12A1 | c.5893C>A | p.Arg1965Ser | Missense | 35/66 | - |
| 6-75841700-G-A | COL12A1 | c.5893C>T | p.Arg1965Cys | Missense | 35/66 | - |
| 11-88924446-G-A | TYR | c.896G>A | p.Arg299His | Missense | 2/5 | - |
| 18-55373793-C-T | ATP8B1 | c.208G>A | p.Asp70Asn | Missense | 3/28 | - |
| 14-24731002-TACTCATACT-TACTCATACTTACTCATACT | TGM1 | c.398_407dup | p.Tyr136*fs*1 | Nonsense | 3/15 | - |
| 15-100185829-G-A | MEF2A | c.118G>A | p.Asp40Asn | Missense | 3/10 | - |
| 11-95512060-A-G | FAM76B | c.754T>C | p.Leu252Leu | Synonymous | 8/10 | - |
| 10-43609096-T-C | RET | c.1852T>C | p.Cys618Arg | Missense | 10/20 | - |
| 12-121177159-C-T | ACADS | c.1147C>T | p.Arg383Cys | Missense | 10/10 | - |
| 12-110922929-G-T | FAM216A | c.231G>T | p.Leu77Leu | Synonymous | 3/7 | - |
| 18-55373793-C-A | ATP8B1 | c.208G>T | p.Asp70Tyr | Missense | 3/28 | - |
| 15-75012912-A-G | CYP1A1 | c.1457T>C | p.Val486Ala | Missense | 7/7 | - |
| 11-71149939-C-G | DHCR7 | c.817G>C | p.Val273Leu | Missense | 7/9 | - |
| 8-11615928-G-A | GATA4 | c.1273G>A | p.Asp425Asn | Missense | 7/7 | - |
| 10-96702047-C-T | CYP2C9 | c.430C>T | p.Arg144Cys | Missense | 3/9 | - |
| 7-55221759-T-C | EGFR | c.803T>C | p.Met268Thr | Missense | 7/28 | - |
| 2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
| 11-89017973-C-T | TYR | c.1217C>T | p.Pro406Leu | Missense | 4/5 | - |
| 17-18051447-C-T | MYO15A | c.6614C>T | p.Thr2205Ile | Missense | 31/66 | - |
| 17-5485367-A-T | NLRP1 | c.464T>A | p.Leu155His | Missense | 3/17 | - |
| 3-10331519-C-T | GHRL | c.152G>A | p.Arg51Gln | Missense | 4/6 | - |
| 11-88911937-G-C | TYR | c.816G>C | p.Trp272Cys | Missense | 1/5 | - |
| 12-53298582-C-A | KRT8 | c.184G>T | p.Gly62Cys | Missense | 1/8 | - |
| 10-101829514-C-T | CPN1 | c.533G>A | p.Gly178Asp | Missense | 3/9 | - |
| 9-6620229-G-A | GLDC | c.425C>T | p.Ser142Leu | Missense | 3/25 | - |
| 2-224642579-A-C | AP1S3 | c.11T>G | p.Phe4Cys | Missense | 2/5 | - |
| 11-113270828-G-A | ANKK1 | c.2137G>A | p.Glu713Lys | Missense | 8/8 | - |
| 8-18257854-T-C | NAT2 | c.341T>C | p.Ile114Thr | Missense | 2/2 | - |
| 10-96827016-G-A | CYP2C8 | c.430C>T | p.Arg144Cys | Missense | 3/9 | - |
| 11-88911903-A-G | TYR | c.782A>G | p.Asn261Ser | Missense | 1/5 | - |
| 11-71146639-G-A | DHCR7 | c.1210C>T | p.Arg404Cys | Missense | 9/9 | - |
| 11-71146639-G-C | DHCR7 | c.1210C>G | p.Arg404Gly | Missense | 9/9 | - |
| 11-71146639-G-T | DHCR7 | c.1210C>A | p.Arg404Ser | Missense | 9/9 | - |
| 17-18022476-G-A | MYO15A | c.362G>A | p.Arg121Gln | Missense | 2/66 | - |
| 2-219136133-G-T | PNKD | c.97G>T | p.Ala33Ser | Missense | 2/3 | - |
| 1-11854476-T-G | MTHFR | c.1286A>C | p.Glu429Ala | Missense | 8/12 | - |
| 2-219136133-G-C | PNKD | c.97G>C | p.Ala33Pro | Missense | 2/3 | - |
| 15-75015255-C-G | CYP1A1 | c.184G>C | p.Ala62Pro | Missense | 2/7 | - |
| 16-31105945-C-T | VKORC1 | c.106G>A | p.Asp36Asn | Missense | 1/3 | - |
| 22-46685777-G-A | TTC38 | c.1297G>A | p.Val433Ile | Missense | 13/14 | - |
| 14-94780642-A-T | SERPINA6 | c.344T>A | p.Leu115His | Missense | 2/5 | - |
| 5-148206824-C-T | ADRB2 | c.430C>T | p.Leu144Leu | Synonymous | 1/1 | - |
| 19-23161678-G-A | ZNF728 | c.227-1766C>T | - | IntronicSNV | - | 3/3 |
| 2-21250804-T-C | APOB | c.1963A>G | p.Ile655Val | Missense | 14/29 | - |
| 3-124456742-G-A | UMPS | c.638G>A | p.Gly213Asp | Missense | 3/6 | - |
| 3-124456742-G-C | UMPS | c.638G>C | p.Gly213Ala | Missense | 3/6 | - |
| 11-118955746-G-A | HMBS | c.3G>A | p.Met1Ile | Missense | 1/14 | - |
| 2-74759825-G-A | HTRA2 | c.1195G>A | p.Gly399Ser | Missense | 7/8 | - |
| 1-94512602-C-T | ABCA4 | c.2791G>A | p.Val931Met | Missense | 19/50 | - |
| 6-26091179-C-T | HFE | c.187C>T | p.His63Tyr | Missense | 2/6 | - |
| 19-39034444-C-T | RYR1 | c.11941C>T | p.His3981Tyr | Missense | 87/106 | - |
| 12-7053285-A-G | C12orf57 | c.1A>G | p.Met1Val | Missense | 1/3 | - |
| 17-37872138-C-T | ERBB2 | c.1459C>T | p.Arg487Trp | Missense | 12/27 | - |
| 2-38298394-C-T | CYP1B1 | c.1103G>A | p.Arg368His | Missense | 3/3 | - |
| 6-26091179-C-G | HFE | c.187C>G | p.His63Asp | Missense | 2/6 | - |
| 1-24122673-C-T | GALE | c.956G>A | p.Gly319Glu | Missense | 11/12 | - |
| 20-43255233-G-A | ADA | c.226C>T | p.Arg76Trp | Missense | 4/12 | - |
| 2-74760011-G-A | HTRA2 | c.1276G>A | p.Asp426Asn | Missense | 8/8 | - |
| 14-24730981-C-T | TGM1 | c.428G>A | p.Arg143His | Missense | 3/15 | - |
| 2-220075521-C-T | ABCB6 | c.2168G>A | p.Arg723Gln | Missense | 16/19 | - |
| 2-25384048-G-C | POMC | c.706C>G | p.Arg236Gly | Missense | 4/4 | - |
| 10-96798749-T-C | CYP2C8 | c.1196A>G | p.Lys399Arg | Missense | 8/9 | - |
| 8-105440222-A-G | DPYS | c.1078T>C | p.Trp360Arg | Missense | 6/10 | - |
| 5-95751785-T-C | PCSK1 | c.661A>G | p.Asn221Asp | Missense | 6/14 | - |
| 11-126215441-C-G | DCPS | c.947C>G | p.Thr316Arg | Missense | 6/6 | - |
| 11-126215441-C-T | DCPS | c.947C>T | p.Thr316Met | Missense | 6/6 | - |
| 15-49089572-C-G | CEP152 | c.466G>C | p.Gly156Arg | Missense | 5/26 | - |
| 4-155530877-C-T | FGG | c.571G>A | p.Gly191Arg | Missense | 6/9 | - |
| 21-15561623-C-T | LIPI | c.227G>A | p.Cys76Tyr | Missense | 2/10 | - |
| 15-49060434-T-C | CEP152 | c.2000A>G | p.Lys667Arg | Missense | 15/26 | - |
| 7-150690079-C-T | NOS3 | c.1-813C>T | - | IntronicSNV | - | 1/26 |
| 6-111901453-G-T | TRAF3IP2 | c.969C>A | p.His323Gln | Missense | 3/9 | - |
| 6-111901453-G-A | TRAF3IP2 | c.969C>T | p.His323His | Synonymous | 3/9 | - |
| 11-71146794-C-T | DHCR7 | c.1055G>A | p.Arg352Gln | Missense | 9/9 | - |
| 7-55220332-CA-TG | EGFR | c.722_723delCAinsTG | p.Thr241Met | Missense | 6/28 | - |
| 2-38298113-T-C | CYP1B1 | c.1384A>G | p.Ile462Val | Missense | 3/3 | - |
| 2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
| 15-75012985-T-C | CYP1A1 | c.1384A>G | p.Ile462Val | Missense | 7/7 | - |
| 15-75012985-T-A | CYP1A1 | c.1384A>T | p.Ile462Phe | Missense | 7/7 | - |
| 15-75012985-T-G | CYP1A1 | c.1384A>C | p.Ile462Leu | Missense | 7/7 | - |
| 6-161127501-A-G | PLG | c.112A>G | p.Lys38Glu | Missense | 2/19 | - |
| 11-608403-AGA-TGT | PHRF1 | c.2944_2946delAGAinsTGT | p.Arg982Cys | Missense | 14/18 | - |
| 15-100255034-G-C | MEF2A | c.*2058G>C | - | 3-UTRSNV | 10/10 | - |
| 1-236966887-G-T | MTR | c.194G>T | p.Gly65Val | Missense | 2/33 | - |
| 16-31104739-C-G | VKORC1 | c.177G>C | p.Trp59Cys | Missense | 2/3 | - |
| 6-151674504-G-A | AKAP12 | c.4978G>A | p.Val1660Ile | Missense | 4/5 | - |
| 1-94543391-T-G | ABCA4 | c.1409A>C | p.Glu470Ala | Missense | 11/50 | - |
| 11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
| 11-116662407-G-A | APOA5 | c.56C>T | p.Ser19Leu | Missense | 3/4 | - |
| 1-236966847-C-T | MTR | c.154C>T | p.Arg52* | Nonsense | 2/33 | - |
| 6-42935188-C-T | PEX6 | c.1802G>A | p.Arg601Gln | Missense | 8/17 | - |
| 17-18051447-C-A | MYO15A | c.6614C>A | p.Thr2205Asn | Missense | 31/66 | - |
| 7-75615006-C-T | POR | c.1508C>T | p.Ala503Val | Missense | 13/16 | - |
| 17-12915009-G-A | ELAC2 | c.560-1021C>T | - | IntronicSNV | - | 6/22 |
| 17-12915009-G-C | ELAC2 | c.560-1021C>G | - | IntronicSNV | - | 6/22 |
| 1-100696428-G-C | DBT | c.294C>G | p.Ile98Met | Missense | 4/11 | - |
| 1-31347320-G-C | SDC3 | c.986C>G | p.Thr329Arg | Missense | 4/5 | - |
| 1-31347320-G-A | SDC3 | c.986C>T | p.Thr329Ile | Missense | 4/5 | - |
| 17-79767715-G-A | GCGR | c.118G>A | p.Gly40Ser | Missense | 3/14 | - |
| 15-100255034-G-T | MEF2A | c.*2058G>T | - | 3-UTRSNV | 10/10 | - |
| 4-68619629-G-A | GNRHR | c.425C>T | p.Ala142Val | Missense | 1/3 | - |
| 11-113269848-T-C | ANKK1 | c.1157T>C | p.Val386Ala | Missense | 8/8 | - |
| 8-143994266-A-C | CYP11B2 | c.1157T>G | p.Val386Gly | Missense | 7/9 | - |
| 8-143994266-A-G | CYP11B2 | c.1157T>C | p.Val386Ala | Missense | 7/9 | - |
| 15-100230590-G-A | MEF2A | c.815G>A | p.Arg272Gln | Missense | 7/10 | - |
| 15-100230557-A-G | MEF2A | c.782A>G | p.Asn261Ser | Missense | 7/10 | - |
| 15-100255034-G-A | MEF2A | c.*2058G>A | - | 3-UTRSNV | 10/10 | - |
| 2-241808338-CC-GG | AGXT | c.56_57delCCinsGG | p.Ser19Trp | Missense | 1/11 | - |
| 15-75014778-T-C | CYP1A1 | c.661A>G | p.Asn221Asp | Missense | 2/7 | - |
| 1-155261709-G-A | PKLR | c.1456C>T | p.Arg486Trp | Missense | 10/11 | - |
| 5-141694021-G-A | SPRY4 | c.653C>T | p.Ser218Phe | Missense | 2/2 | - |
| 1-155263347-G-A | PKLR | c.1151C>T | p.Thr384Met | Missense | 8/11 | - |
| 7-55229255-G-A | EGFR | c.1562G>A | p.Arg521Lys | Missense | 13/28 | - |
| 22-21134223-G-A | SERPIND1 | c.623G>A | p.Arg208His | Missense | 2/5 | - |
| 10-43620335-C-T | RET | c.2944C>T | p.Arg982Cys | Missense | 18/20 | - |
| 5-141694021-G-T | SPRY4 | c.653C>A | p.Ser218Tyr | Missense | 2/2 | - |
| 7-55229255-G-T | EGFR | c.1562G>T | p.Arg521Met | Missense | 13/28 | - |
| 11-5255582-C-A | HBD | c.82G>T | p.Ala28Ser | Missense | 1/3 | - |
| 1-116224993-G-A | VANGL1 | c.815G>A | p.Arg272Gln | Missense | 5/8 | - |
| 19-41512841-G-T | CYP2B6 | c.516G>T | p.Gln172His | Missense | 4/9 | - |
| 2-241810808-G-C | AGXT | c.466G>C | p.Gly156Arg | Missense | 4/11 | - |
| 2-241810808-G-A | AGXT | c.466G>A | p.Gly156Arg | Missense | 4/11 | - |
| 19-41512841-G-A | CYP2B6 | c.516G>A | p.Gln172Gln | Synonymous | 4/9 | - |
| 8-55537560-C-T | RP1 | c.1118C>T | p.Thr373Ile | Missense | 4/4 | - |
| 4-100260789-T-C | ADH1C | c.1048A>G | p.Ile350Val | Missense | 8/9 | - |
| 4-100260789-T-A | ADH1C | c.1048A>T | p.Ile350Phe | Missense | 8/9 | - |
| 1-114377568-A-G | PTPN22 | c.1858T>C | p.Trp620Arg | Missense | 14/21 | - |
| 11-88911351-G-A | TYR | c.230G>A | p.Arg77Gln | Missense | 1/5 | - |
| 3-164764786-A-C | SI | c.1730T>G | p.Val577Gly | Missense | 16/48 | - |
| 14-24728919-AGA-A | TGM1 | c.977_978delCT | p.Ser326Cysfs*8 | Frameshift | 6/15 | - |
| 1-114399228-C-T | PTPN22 | c.422G>A | p.Arg141His | Missense | 6/21 | - |
| 5-148206885-C-T | ADRB2 | c.491C>T | p.Thr164Ile | Missense | 1/1 | - |
| 3-164764786-A-G | SI | c.1730T>C | p.Val577Ala | Missense | 16/48 | - |
| 14-24728355-A-C | TGM1 | c.1085T>G | p.Leu362Arg | Missense | 7/15 | - |
| 15-100252932-A-T | MEF2A | c.1450A>T | p.Ser484Cys | Missense | 10/10 | - |
| 10-43595968-A-T | RET | c.135A>T | p.Ala45Ala | Synonymous | 2/20 | - |
| 10-43595968-A-C | RET | c.135A>C | p.Ala45Ala | Synonymous | 2/20 | - |
| 10-43595968-A-G | RET | c.135A>G | p.Ala45Ala | Synonymous | 2/20 | - |
| 11-113270150-C-T | ANKK1 | c.1459C>T | p.Pro487Ser | Missense | 8/8 | - |
| 2-21255281-C-T | APOB | c.1297G>A | p.Ala433Thr | Missense | 10/29 | - |
| 17-7579394-G-A | TP53 | c.293C>T | p.Pro98Leu | Missense | 4/11 | - |
| 1-11855200-G-A | MTHFR | c.986C>T | p.Thr329Ile | Missense | 6/12 | - |
| 10-96827297-G-A | CYP2C8 | c.320C>T | p.Thr107Ile | Missense | 2/9 | - |
| 8-143996516-G-T | CYP11B2 | c.541C>A | p.Arg181Arg | Synonymous | 3/9 | - |
| 8-143996516-G-A | CYP11B2 | c.541C>T | p.Arg181Trp | Missense | 3/9 | - |
| 1-70881670-C-A | CTH | c.200C>A | p.Thr67Asn | Missense | 2/12 | - |
| 19-8188812-C-T | FBN3 | c.2812G>A | p.Val938Ile | Missense | 23/64 | - |
| 11-118963216-G-A | HMBS | c.754G>A | p.Ala252Thr | Missense | 11/14 | - |
| 8-11615928-G-T | GATA4 | c.1273G>T | p.Asp425Tyr | Missense | 7/7 | - |
| 11-113270028-T-C | ANKK1 | c.1337T>C | p.Leu446Pro | Missense | 8/8 | - |
| 5-148206440-G-A | ADRB2 | c.46G>A | p.Gly16Arg | Missense | 1/1 | - |
| 11-71146794-C-A | DHCR7 | c.1055G>T | p.Arg352Leu | Missense | 9/9 | - |
| 5-150723155-C-A | SLC36A2 | c.260G>T | p.Gly87Val | Missense | 3/10 | - |
| 1-15772212-C-T | CTRC | c.760C>T | p.Arg254Trp | Missense | 7/8 | - |
| 1-97847960-T-C | DPYD | c.1963A>G | p.Lys655Glu | Missense | 15/23 | - |
| 4-96106322-A-G | UNC5C | c.2162T>C | p.Met721Thr | Missense | 13/16 | - |
| 14-24731434-G-C | TGM1 | c.125C>G | p.Ser42Cys | Missense | 2/15 | - |