| Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
|---|---|---|---|---|---|---|
| X-19593737-A-C | SH3KBP1 | c.1299-6431T>G | - | IntronicSNV | - | 12/17 |
| X-19593737-A-G | SH3KBP1 | c.1299-6431T>C | - | IntronicSNV | - | 12/17 |
| 16-56939811-C-G | SLC12A3 | c.2951+1437C>G | - | IntronicSNV | - | 25/25 |
| 7-80297720-C-G | CD36 | c.749-1549C>G | - | IntronicSNV | - | 8/13 |
| 7-80297720-C-A | CD36 | c.749-1549C>A | - | IntronicSNV | - | 8/13 |
| 7-80297720-C-T | CD36 | c.749-1549C>T | - | IntronicSNV | - | 8/13 |
| 10-106902433-C-T | SORCS3 | c.1302+3189C>T | - | IntronicSNV | - | 8/26 |
| 12-6954864-G-A | GNB3 | c.814G>A | p.Gly272Ser | Missense | 9/10 | - |
| 9-136504923-C-A | DBH | c.340-45C>A | - | IntronicSNV | - | 1/11 |
| 15-63862329-G-T | USP3 | c.630-303G>T | - | IntronicSNV | - | 7/13 |
| 12-688340-A-C | NINJ2 | c.34-12996T>G | - | intron_variant | - | 1/3 |
| 16-23319016-T-C | SCNN1B | c.-9+5258T>C | - | intron_variant | - | 1/12 |
| 16-23364081-A-C | SCNN1B | c.312-41A>C | - | IntronicSNV | - | 2/12 |
| 10-106713633-A-G | SORCS3 | c.796-23460A>G | - | IntronicSNV | - | 3/26 |
| 20-43249591-C-T | ADA | c.975+68G>A | - | IntronicSNV | - | 10/11 |
| 17-26116848-C-T | NOS2 | c.111-134G>A | - | IntronicSNV | - | 2/26 |
| 4-183622901-T-C | TENM3 | c.2222-12339T>C | - | IntronicSNV | - | 12/27 |
| 20-43273692-G-T | ADA | c.33+6524C>A | - | IntronicSNV | - | 1/11 |
| 15-91457220-G-C | MAN2A2 | c.2860+235G>C | - | IntronicSNV | - | 19/22 |
| 10-106421057-G-T | SORCS3 | c.627+19345G>T | - | IntronicSNV | - | 1/26 |
| 10-106437233-C-T | SORCS3 | c.627+35521C>T | - | IntronicSNV | - | 1/26 |
| 1-11905981-A-T | NPPA | c.*85T>A | - | 3-UTRSNV | 3/3 | - |
| 12-6466055-G-T | SCNN1A | c.876-1009C>A | - | IntronicSNV | - | 4/12 |
| 20-10633313-T-C | JAG1 | c.756-67A>G | - | IntronicSNV | - | 5/25 |
| 9-140955547-G-A | CACNA1B | c.4668+1358G>A | - | IntronicSNV | - | 31/46 |
| 15-63803789-A-T | USP3 | c.91+6760A>T | - | IntronicSNV | - | 1/13 |
| 3-165491280-C-T | BCHE | c.1699G>A | p.Ala567Thr | Missense | 4/4 | - |
| 17-26121921-C-T | NOS2 | c.110+3805G>A | - | IntronicSNV | - | 2/26 |
| 1-10093457-C-T | UBE4B | c.1-272C>T | - | 5-UTRSNV | 1/27 | - |
| 20-43270002-A-G | ADA | c.34-5073T>C | - | IntronicSNV | - | 1/11 |
| 20-43270002-A-T | ADA | c.34-5073T>A | - | IntronicSNV | - | 1/11 |
| 15-48524522-G-C | SLC12A1 | c.976-402G>C | - | IntronicSNV | - | 7/26 |
| 15-48524522-G-A | SLC12A1 | c.976-402G>A | - | IntronicSNV | - | 7/26 |
| 16-23347304-A-G | SCNN1B | c.1-12617A>G | - | IntronicSNV | - | 1/12 |
| 16-23374008-C-G | SCNN1B | c.777-5169C>G | - | IntronicSNV | - | 4/12 |
| 12-6482786-G-C | SCNN1A | c.416+748C>G | - | IntronicSNV | - | 2/12 |
| 15-48554841-A-G | SLC12A1 | c.2154+3333A>G | - | IntronicSNV | - | 17/26 |
| 16-23374008-C-T | SCNN1B | c.777-5169C>T | - | IntronicSNV | - | 4/12 |
| 10-67790146-G-T | CTNNA3 | c.2159+38920C>A | - | IntronicSNV | - | 15/17 |
| 7-101754138-C-T | CUX1 | c.564-840C>T | - | IntronicSNV | - | 6/22 |
| 15-45425864-G-A | DUOX1 | c.59-198G>A | - | IntronicSNV | - | 3/34 |
| 15-63823301-A-G | USP3 | c.92-1545A>G | - | IntronicSNV | - | 1/13 |
| 15-63823301-A-T | USP3 | c.92-1545A>T | - | IntronicSNV | - | 1/13 |
| 12-21526883-T-C | IAPP | c.80+518T>C | - | IntronicSNV | - | 2/2 |
| 12-21532217-T-A | IAPP | c.*857T>A | - | 3-UTRSNV | 3/3 | - |
| 12-24981611-A-C | BCAT1 | c.1119+1146T>G | - | IntronicSNV | - | 10/10 |
| 11-12469397-A-G | PARVA | c.137-25895A>G | - | intron_variant | - | 1/12 |
| 15-63842789-A-G | USP3 | c.153-3125A>G | - | IntronicSNV | - | 2/13 |
| 17-61563458-A-C | ACE | c.2059-460A>C | - | IntronicSNV | - | 13/24 |
| 17-61563458-A-G | ACE | c.2059-460A>G | - | IntronicSNV | - | 13/24 |
| 17-26111428-G-A | NOS2 | c.468-1296C>T | - | IntronicSNV | - | 5/26 |
| 12-676390-A-C | NINJ2 | c.34-1046T>G | - | intron_variant | - | 1/3 |
| 16-23349668-C-T | SCNN1B | c.1-10253C>T | - | IntronicSNV | - | 1/12 |
| 5-148207053-C-G | ADRB2 | c.659C>G | p.Ser220Cys | Missense | 1/1 | - |
| 1-162085685-G-T | NOS1AP | c.106-38510G>T | - | IntronicSNV | - | 1/9 |
| 16-56917953-T-C | SLC12A3 | c.1670-8T>C | - | IntronicSNV | - | 13/25 |
| 1-160097666-G-C | ATP1A2 | c.1017+56G>C | - | IntronicSNV | - | 8/22 |
| 15-63818850-T-C | USP3 | c.92-5996T>C | - | IntronicSNV | - | 1/13 |
| 12-676390-A-T | NINJ2 | c.34-1046T>A | - | intron_variant | - | 1/3 |
| 9-136509370-G-A | DBH | c.952G>A | p.Ala318Thr | Missense | 5/12 | - |
| 17-61574662-C-A | ACE | c.3856C>A | p.Arg1286Ser | Missense | 25/25 | - |
| 10-106403115-T-C | SORCS3 | c.627+1403T>C | - | IntronicSNV | - | 1/26 |
| 16-23349668-C-A | SCNN1B | c.1-10253C>A | - | IntronicSNV | - | 1/12 |
| 10-106487176-G-T | SORCS3 | c.627+85464G>T | - | IntronicSNV | - | 1/26 |
| 10-106487176-G-A | SORCS3 | c.627+85464G>A | - | IntronicSNV | - | 1/26 |
| 15-48524385-A-T | SLC12A1 | c.976-539A>T | - | IntronicSNV | - | 7/26 |
| 4-2873835-C-G | ADD1 | c.1-3808C>G | - | IntronicSNV | - | 1/14 |
| 20-48164401-A-T | PTGIS | c.354T>A | p.Ser118Arg | Missense | 3/10 | - |
| 12-19512563-G-T | PLEKHA5 | c.2985+83G>T | - | IntronicSNV | - | 22/25 |
| 12-19512563-G-A | PLEKHA5 | c.2985+83G>A | - | IntronicSNV | - | 22/25 |
| 10-106899707-A-G | SORCS3 | c.1302+463A>G | - | IntronicSNV | - | 8/26 |
| 16-56946072-C-T | SLC12A3 | c.2952-1104C>T | - | IntronicSNV | - | 25/25 |
| 15-63862329-G-C | USP3 | c.630-303G>C | - | IntronicSNV | - | 7/13 |
| 20-48131301-G-C | PTGIS | c.856-369C>G | - | IntronicSNV | - | 6/9 |
| 2-165427825-G-T | GRB14 | c.325-23499C>A | - | IntronicSNV | - | 2/13 |
| 20-48140744-G-A | PTGIS | c.706C>T | p.Arg236Cys | Missense | 6/10 | - |
| 22-36708084-C-T | MYH9 | c.1728+10G>A | - | IntronicSNV | - | 14/40 |
| 10-106498526-C-T | SORCS3 | c.627+96814C>T | - | IntronicSNV | - | 1/26 |
| 12-706125-C-G | NINJ2 | c.34-30781G>C | - | intron_variant | - | 1/3 |
| 12-706125-C-A | NINJ2 | c.34-30781G>T | - | intron_variant | - | 1/3 |
| 1-186156514-C-T | HMCN1 | c.16415-501C>T | - | IntronicSNV | - | 105/106 |
| X-65416087-G-A | HEPH | c.1663+1016G>A | - | IntronicSNV | - | 9/20 |
| 4-2903285-A-G | ADD1 | c.1161+2123A>G | - | IntronicSNV | - | 9/14 |
| 10-106754277-A-G | SORCS3 | c.954+17026A>G | - | IntronicSNV | - | 4/26 |
| X-106311987-T-C | RBM41 | c.1075+498A>G | - | IntronicSNV | - | 6/6 |
| 12-706125-C-T | NINJ2 | c.34-30781G>A | - | intron_variant | - | 1/3 |
| 1-11557926-T-A | DISP3 | c.1-3124T>A | - | IntronicSNV | - | 1/20 |
| 1-11557926-T-G | DISP3 | c.1-3124T>G | - | IntronicSNV | - | 1/20 |
| 10-106767157-T-C | SORCS3 | c.954+29906T>C | - | IntronicSNV | - | 4/26 |
| 17-42332803-C-T | SLC4A1 | c.1801-139G>A | - | IntronicSNV | - | 14/19 |
| 12-740961-G-A | NINJ2 | c.33+31533C>T | - | intron_variant | - | 1/3 |
| 1-35260586-C-T | GJA4 | c.772C>T | p.Pro258Ser | Missense | 2/2 | - |
| 16-56920910-G-A | SLC12A3 | c.2083G>A | p.Gly695Arg | Missense | 17/26 | - |
| 12-6466055-G-C | SCNN1A | c.876-1009C>G | - | IntronicSNV | - | 4/12 |
| 16-23375921-A-G | SCNN1B | c.777-3256A>G | - | IntronicSNV | - | 4/12 |
| 6-40382711-T-C | LRFN2 | c.1400+16742A>G | - | IntronicSNV | - | 2/2 |
| 10-112053599-C-T | SMNDC1 | c.*309G>A | - | 3-UTRSNV | 6/6 | - |
| 7-80300449-T-G | CD36 | c.975T>G | p.Tyr325* | Nonsense | 10/14 | - |
| 12-81052353-T-A | PTPRQ | c.5736+513T>A | - | intron_variant | - | 41/46 |
| 5-33636594-G-A | ADAMTS12 | c.1888+1088C>T | - | IntronicSNV | - | 12/23 |
| 15-63809990-A-C | USP3 | c.91+12961A>C | - | IntronicSNV | - | 1/13 |
| 9-136505114-A-G | DBH | c.486A>G | p.Glu162Glu | Synonymous | 2/12 | - |
| 22-36708084-C-G | MYH9 | c.1728+10G>C | - | IntronicSNV | - | 14/40 |
| 1-41948020-G-A | EDN2 | c.344+117C>T | - | IntronicSNV | - | 3/4 |
| 1-160102060-C-T | ATP1A2 | c.1827+1673C>T | - | IntronicSNV | - | 13/22 |
| 1-160102060-C-G | ATP1A2 | c.1827+1673C>G | - | IntronicSNV | - | 13/22 |
| 19-49482522-C-T | GYS1 | c.1170-1108G>A | - | IntronicSNV | - | 8/15 |
| 16-67984589-A-G | SLC12A4 | c.1422T>C | p.Gly474Gly | Synonymous | 11/24 | - |
| 22-24827079-G-A | ADORA2A | c.1-2294G>A | - | IntronicSNV | - | 1/2 |
| 3-32467307-A-G | CMTM7 | c.160-16025A>G | - | IntronicSNV | - | 1/4 |
| 7-92886812-A-G | VPS50 | c.422+36A>G | - | IntronicSNV | - | 6/27 |
| 12-726015-G-C | NINJ2 | c.33+46479C>G | - | intron_variant | - | 1/3 |
| 12-726015-G-A | NINJ2 | c.33+46479C>T | - | intron_variant | - | 1/3 |
| 4-77660731-C-G | SHROOM3 | c.1405C>G | p.Pro469Ala | Missense | 5/11 | - |
| 9-13183464-C-T | MPDZ | c.2602G>A | p.Gly868Ser | Missense | 19/46 | - |
| 4-77660731-C-A | SHROOM3 | c.1405C>A | p.Pro469Thr | Missense | 5/11 | - |
| 6-170706194-C-A | FAM120B | c.2692+1527C>A | - | IntronicSNV | - | 9/10 |
| 1-243806438-G-A | AKT3 | c.429+2757C>T | - | IntronicSNV | - | 4/13 |
| 1-95384905-T-C | CNN3 | c.57+7489A>G | - | IntronicSNV | - | 1/6 |
| 1-95384905-T-A | CNN3 | c.57+7489A>T | - | IntronicSNV | - | 1/6 |
| 15-48593854-T-C | SLC12A1 | c.3164+275T>C | - | IntronicSNV | - | 26/26 |
| 17-26106675-A-G | NOS2 | c.1005-593T>C | - | IntronicSNV | - | 9/26 |
| 10-106447071-A-C | SORCS3 | c.627+45359A>C | - | IntronicSNV | - | 1/26 |
| 1-41948020-G-T | EDN2 | c.344+117C>A | - | IntronicSNV | - | 3/4 |
| 1-204132816-G-T | REN | c.99-1525C>A | - | IntronicSNV | - | 1/9 |
| 10-106632037-T-C | SORCS3 | c.695+29420T>C | - | IntronicSNV | - | 2/26 |
| 10-106632037-T-A | SORCS3 | c.695+29420T>A | - | IntronicSNV | - | 2/26 |
| 8-32066467-T-G | NRG1 | c.38-386879T>G | - | IntronicSNV | - | 1/11 |
| 20-10622501-G-C | JAG1 | c.2612C>G | p.Pro871Arg | Missense | 22/26 | - |
| 17-26100321-A-C | NOS2 | c.1477-52T>G | - | IntronicSNV | - | 12/26 |
| 4-54414696-C-A | LNX1 | c.380+25094G>T | - | IntronicSNV | - | 2/10 |
| 8-91899505-G-A | NECAB1 | c.357+6147G>A | - | IntronicSNV | - | 5/12 |
| 11-41146499-A-C | LRRC4C | c.-327+334482T>G | - | intron_variant | - | 1/4 |
| 16-23366422-G-A | SCNN1B | c.586-198G>A | - | IntronicSNV | - | 3/12 |
| 4-2906285-A-G | ADD1 | c.1162-206A>G | - | IntronicSNV | - | 9/14 |
| 20-43275001-T-C | ADA | c.33+5215A>G | - | IntronicSNV | - | 1/11 |
| 3-32470048-G-T | CMTM7 | c.160-13284G>T | - | IntronicSNV | - | 1/4 |
| 12-696383-A-T | NINJ2 | c.34-21039T>A | - | intron_variant | - | 1/3 |
| X-153207025-T-C | RENBP | c.851A>G | p.Asp284Gly | Missense | 8/11 | - |
| 1-35260769-C-G | GJA4 | c.955C>G | p.Pro319Ala | Missense | 2/2 | - |
| 19-51323232-T-G | KLK1 | c.556A>C | p.Lys186Gln | Missense | 4/5 | - |
| 10-106557944-G-C | SORCS3 | c.628-44606G>C | - | IntronicSNV | - | 1/26 |
| 12-6464581-C-T | SCNN1A | c.1000G>A | p.Ala334Thr | Missense | 6/13 | - |
| 4-2906707-G-A | ADD1 | c.1378G>A | p.Gly460Arg | Missense | 10/15 | - |
| 15-33874275-T-C | RYR3 | c.1573+431T>C | - | IntronicSNV | - | 14/103 |
| 15-33874275-T-G | RYR3 | c.1573+431T>G | - | IntronicSNV | - | 14/103 |
| 10-106711982-C-T | SORCS3 | c.796-25111C>T | - | IntronicSNV | - | 3/26 |
| 4-77368847-G-A | SHROOM3 | c.168+11474G>A | - | IntronicSNV | - | 1/10 |
| 16-23375749-G-A | SCNN1B | c.777-3428G>A | - | IntronicSNV | - | 4/12 |
| 3-32479587-G-A | CMTM7 | c.160-3745G>A | - | IntronicSNV | - | 1/4 |
| 8-91899505-G-T | NECAB1 | c.357+6147G>T | - | IntronicSNV | - | 5/12 |
| 17-26104511-T-C | NOS2 | c.1281+1205A>G | - | IntronicSNV | - | 11/26 |
| 1-185903450-T-C | HMCN1 | c.1828+494T>C | - | IntronicSNV | - | 11/106 |
| 19-51323232-T-C | KLK1 | c.556A>G | p.Lys186Glu | Missense | 4/5 | - |
| 12-705680-A-G | NINJ2 | c.34-30336T>C | - | intron_variant | - | 1/3 |
| 16-56937998-T-C | SLC12A3 | c.2884-309T>C | - | IntronicSNV | - | 24/25 |
| 13-75884216-C-T | TBC1D4 | c.2455G>A | p.Val819Ile | Missense | 14/21 | - |
| 5-148206646-G-C | ADRB2 | c.252G>C | p.Leu84Leu | Synonymous | 1/1 | - |
| 5-148206646-G-A | ADRB2 | c.252G>A | p.Leu84Leu | Synonymous | 1/1 | - |
| 19-10385540-A-T | ICAM1 | c.167A>T | p.Lys56Met | Missense | 2/7 | - |
| 16-23226949-T-G | SCNN1G | c.*159T>G | - | 3-UTRSNV | 13/13 | - |
| 9-13112024-C-T | MPDZ | c.5636G>A | p.Arg1879Lys | Missense | 42/46 | - |
| 3-23454790-A-G | UBE2E2 | c.228-86309A>G | - | IntronicSNV | - | 3/5 |
| 10-53415680-C-T | PRKG1 | c.548-148665C>T | - | IntronicSNV | - | 3/17 |
| 10-106705773-G-C | SORCS3 | c.795+30083G>C | - | IntronicSNV | - | 3/26 |
| 1-11905981-A-G | NPPA | c.*85T>C | - | 3-UTRSNV | 3/3 | - |
| 20-48130982-C-G | PTGIS | c.856-50G>C | - | IntronicSNV | - | 6/9 |
| 5-148207053-C-T | ADRB2 | c.659C>T | p.Ser220Phe | Missense | 1/1 | - |
| 20-48130982-C-T | PTGIS | c.856-50G>A | - | IntronicSNV | - | 6/9 |
| 9-13224491-G-A | MPDZ | c.275C>T | p.Ser92Leu | Missense | 4/46 | - |
| 12-6482786-G-A | SCNN1A | c.416+748C>T | - | IntronicSNV | - | 2/12 |
| 20-48130628-T-A | PTGIS | c.1024+136A>T | - | IntronicSNV | - | 7/9 |
| 10-106708297-C-A | SORCS3 | c.796-28796C>A | - | IntronicSNV | - | 3/26 |
| 17-26100321-A-G | NOS2 | c.1477-52T>C | - | IntronicSNV | - | 12/26 |
| 9-136509370-G-T | DBH | c.952G>T | p.Ala318Ser | Missense | 5/12 | - |
| 3-148450912-C-T | AGTR1 | c.1-7911C>T | - | IntronicSNV | - | 2/2 |
| 3-111680469-C-T | PHLDB2 | c.2744-486C>T | - | IntronicSNV | - | 11/16 |
| 12-697633-G-C | NINJ2 | c.34-22289C>G | - | intron_variant | - | 1/3 |
| 12-673515-T-C | NINJ2 | c.*351A>G | - | 3_prime_UTR_variant | 4/4 | - |
| 22-24834564-G-C | ADORA2A | c.333-1987G>C | - | IntronicSNV | - | 2/2 |
| 15-63866584-C-A | USP3 | c.946C>A | p.Pro316Thr | Missense | 10/14 | - |
| 12-81052353-T-C | PTPRQ | c.5736+513T>C | - | intron_variant | - | 41/46 |
| 15-45457349-A-G | DUOX1 | c.*250A>G | - | 3-UTRSNV | 35/35 | - |
| 20-48130628-T-C | PTGIS | c.1024+136A>G | - | IntronicSNV | - | 7/9 |
| 3-148439788-G-A | AGTR1 | c.-48+13974G>A | - | intron_variant | - | 2/2 |
| 9-13224491-G-C | MPDZ | c.275C>G | p.Ser92Trp | Missense | 4/46 | - |
| 22-36695942-C-T | MYH9 | c.2976+231G>A | - | IntronicSNV | - | 23/40 |
| 13-75866284-G-A | TBC1D4 | c.3440C>T | p.Thr1147Met | Missense | 19/21 | - |
| 20-48167203-G-T | PTGIS | c.75-477C>A | - | IntronicSNV | - | 1/9 |
| 3-148437427-T-A | AGTR1 | c.-48+11613T>A | - | intron_variant | - | 2/2 |
| 5-475104-A-G | SLC9A3 | c.2395T>C | p.Cys799Arg | Missense | 16/17 | - |
| 19-49477474-T-C | GYS1 | c.1545A>G | p.Thr515Thr | Synonymous | 12/16 | - |
| 22-36702892-T-C | MYH9 | c.1844-239A>G | - | IntronicSNV | - | 15/40 |
| 5-475104-A-T | SLC9A3 | c.2395T>A | p.Cys799Ser | Missense | 16/17 | - |
| 12-683946-G-C | NINJ2 | c.34-8602C>G | - | intron_variant | - | 1/3 |
| 7-150689943-G-A | NOS3 | c.1-949G>A | - | IntronicSNV | - | 1/26 |
| 7-150689943-G-C | NOS3 | c.1-949G>C | - | IntronicSNV | - | 1/26 |
| 1-243806438-G-C | AKT3 | c.429+2757C>G | - | IntronicSNV | - | 4/13 |
| 10-106494461-G-T | SORCS3 | c.627+92749G>T | - | IntronicSNV | - | 1/26 |
| 4-2868514-G-A | ADD1 | c.1-9129G>A | - | IntronicSNV | - | 1/14 |
| 19-10394792-G-A | ICAM1 | c.721G>A | p.Gly241Arg | Missense | 4/7 | - |
| 1-2026749-A-G | PRKCZ | c.334+35719A>G | - | IntronicSNV | - | 4/17 |
| 15-48555729-T-C | SLC12A1 | c.2155-4029T>C | - | IntronicSNV | - | 17/26 |
| 15-48528113-G-A | SLC12A1 | c.1215+912G>A | - | IntronicSNV | - | 9/26 |
| 3-32451697-C-A | CMTM7 | c.159+18140C>A | - | IntronicSNV | - | 1/4 |
| 10-106924979-G-A | SORCS3 | c.1809+842G>A | - | IntronicSNV | - | 12/26 |
| 10-106924979-G-C | SORCS3 | c.1809+842G>C | - | IntronicSNV | - | 12/26 |
| 10-106924979-G-T | SORCS3 | c.1809+842G>T | - | IntronicSNV | - | 12/26 |
| 1-11907648-C-T | NPPA | c.94G>A | p.Val32Met | Missense | 1/3 | - |
| 12-770929-G-T | NINJ2 | c.33+1565C>A | - | intron_variant | - | 1/3 |
| 15-48528113-G-C | SLC12A1 | c.1215+912G>C | - | IntronicSNV | - | 9/26 |
| 5-126633827-C-T | MEGF10 | c.-69-1861C>T | - | intron_variant | - | 1/25 |
| 9-136508658-G-A | DBH | c.868G>A | p.Asp290Asn | Missense | 4/12 | - |
| 8-82751929-G-A | SNX16 | c.293C>T | p.Pro98Leu | Missense | 3/9 | - |
| 1-27470883-A-G | SLC9A1 | c.352+9591T>C | - | IntronicSNV | - | 1/11 |
| 1-11906068-A-G | NPPA | c.454T>C | - | Missense | 3/3 | - |
| 10-106885045-A-G | SORCS3 | c.1213-14110A>G | - | IntronicSNV | - | 7/26 |
| 1-230844196-C-T | AGT | c.856+1545G>A | - | IntronicSNV | - | 2/4 |
| 19-3159769-A-G | GNA15 | c.898+1890A>G | - | IntronicSNV | - | 6/6 |
| 1-230844196-C-A | AGT | c.856+1545G>T | - | IntronicSNV | - | 2/4 |
| 1-230844196-C-G | AGT | c.856+1545G>C | - | IntronicSNV | - | 2/4 |
| 16-23227362-A-G | SCNN1G | c.*572A>G | - | 3-UTRSNV | 13/13 | - |
| 19-49485758-C-T | GYS1 | c.942-126G>A | - | IntronicSNV | - | 6/15 |
| X-39940000-C-T | BCOR | c.1-2818G>A | - | IntronicSNV | - | 1/14 |
| 3-148454214-A-C | AGTR1 | c.1-4609A>C | - | IntronicSNV | - | 1/2 |
| 14-66136163-C-A | FUT8 | c.311C>A | p.Thr104Lys | Missense | 6/10 | - |
| 20-48177784-G-A | PTGIS | c.74+6796C>T | - | IntronicSNV | - | 1/9 |
| 5-82811500-A-T | VCAN | c.1042+3285A>T | - | IntronicSNV | - | 6/14 |
| 6-131967033-G-T | ENPP3 | c.155-4134G>T | - | IntronicSNV | - | 2/24 |
| 5-82811500-A-G | VCAN | c.1042+3285A>G | - | IntronicSNV | - | 6/14 |
| 6-131967033-G-C | ENPP3 | c.155-4134G>C | - | IntronicSNV | - | 2/24 |
| 6-131967033-G-A | ENPP3 | c.155-4134G>A | - | IntronicSNV | - | 2/24 |
| 16-56944727-C-T | SLC12A3 | c.2952-2449C>T | - | IntronicSNV | - | 25/25 |
| 12-700675-G-T | NINJ2 | c.34-25331C>A | - | intron_variant | - | 1/3 |
| 12-700675-G-C | NINJ2 | c.34-25331C>G | - | intron_variant | - | 1/3 |
| 1-246089811-G-C | SMYD3 | c.525+1422C>G | - | IntronicSNV | - | 7/11 |
| 11-13517404-A-G | PTH | c.-6+54T>C | - | intron_variant | - | 1/2 |
| 11-41146499-A-G | LRRC4C | c.-327+334482T>C | - | intron_variant | - | 1/4 |
| 11-17408831-G-T | KCNJ11 | c.808C>A | p.Leu270Met | Missense | 1/1 | - |
| 12-771790-G-A | NINJ2 | c.33+704C>T | - | intron_variant | - | 1/3 |
| 20-48130328-C-T | PTGIS | c.1024+436G>A | - | IntronicSNV | - | 7/9 |
| 20-48130328-C-G | PTGIS | c.1024+436G>C | - | IntronicSNV | - | 7/9 |
| 11-17408831-G-C | KCNJ11 | c.808C>G | p.Leu270Val | Missense | 1/1 | - |
| 12-721030-C-T | NINJ2 | c.34-45686G>A | - | intron_variant | - | 1/3 |
| 12-721030-C-A | NINJ2 | c.34-45686G>T | - | intron_variant | - | 1/3 |
| 1-246089811-G-A | SMYD3 | c.525+1422C>T | - | IntronicSNV | - | 7/11 |
| 16-23341595-A-G | SCNN1B | c.1-18326A>G | - | IntronicSNV | - | 1/12 |
| 4-77175743-A-G | FAM47E | c.75-1588A>G | - | IntronicSNV | - | 1/7 |
| 1-41948854-C-T | EDN2 | c.222-595G>A | - | IntronicSNV | - | 2/4 |
| 15-63886379-G-C | USP3 | c.*3354G>C | - | 3-UTRSNV | 14/14 | - |
| 22-36708483-G-T | MYH9 | c.1555-216C>A | - | IntronicSNV | - | 13/40 |
| 9-13190162-T-A | MPDZ | c.2105A>T | p.Glu702Val | Missense | 16/46 | - |
| 10-106603824-G-A | SORCS3 | c.695+1207G>A | - | IntronicSNV | - | 2/26 |
| 16-23219210-T-G | SCNN1G | c.1078-1861T>G | - | IntronicSNV | - | 6/12 |
| 10-106763703-C-T | SORCS3 | c.954+26452C>T | - | IntronicSNV | - | 4/26 |
| 10-106783742-C-A | SORCS3 | c.955-19071C>A | - | IntronicSNV | - | 4/26 |
| 22-36708483-G-A | MYH9 | c.1555-216C>T | - | IntronicSNV | - | 13/40 |
| 10-106783742-C-T | SORCS3 | c.955-19071C>T | - | IntronicSNV | - | 4/26 |
| 4-173764577-C-T | GALNTL6 | c.923+29703C>T | - | IntronicSNV | - | 7/12 |
| 4-173764577-C-A | GALNTL6 | c.923+29703C>A | - | IntronicSNV | - | 7/12 |
| 9-13123295-T-C | MPDZ | c.4810A>G | p.Thr1604Ala | Missense | 36/46 | - |
| 10-106860337-A-G | SORCS3 | c.1094-4818A>G | - | IntronicSNV | - | 6/26 |
| 9-136522187-A-G | DBH | c.1563-5A>G | - | IntronicSNV | - | 10/11 |
| 12-707660-C-T | NINJ2 | c.34-32316G>A | - | intron_variant | - | 1/3 |
| 16-20352756-A-G | UMOD | c.1332-98T>C | - | IntronicSNV | - | 6/10 |
| 9-136520282-G-A | DBH | c.1435-1363G>A | - | IntronicSNV | - | 9/11 |
| 9-136520282-G-C | DBH | c.1435-1363G>C | - | IntronicSNV | - | 9/11 |
| 13-108281921-G-A | FAM155A | c.915+236109C>T | - | IntronicSNV | - | 1/2 |
| 3-32490894-G-A | CMTM7 | c.334-52G>A | - | IntronicSNV | - | 2/4 |
| 3-32446465-G-A | CMTM7 | c.159+12908G>A | - | IntronicSNV | - | 1/4 |
| 16-23366422-G-C | SCNN1B | c.586-198G>C | - | IntronicSNV | - | 3/12 |
| 12-21526651-G-A | IAPP | c.80+286G>A | - | IntronicSNV | - | 2/2 |
| 10-97385242-A-G | ALDH18A1 | c.1153-30T>C | - | IntronicSNV | - | 10/17 |
| 3-23385877-G-A | UBE2E2 | c.227+127074G>A | - | IntronicSNV | - | 3/5 |
| 3-23385877-G-C | UBE2E2 | c.227+127074G>C | - | IntronicSNV | - | 3/5 |
| 10-106571525-C-T | SORCS3 | c.628-31025C>T | - | IntronicSNV | - | 1/26 |
| 10-106571525-C-A | SORCS3 | c.628-31025C>A | - | IntronicSNV | - | 1/26 |
| 2-165427825-G-C | GRB14 | c.325-23499C>G | - | IntronicSNV | - | 2/13 |
| 11-10327547-C-G | ADM | c.150C>G | p.Ser50Arg | Missense | 3/4 | - |
| 6-12294862-T-C | EDN1 | c.533+225T>C | - | IntronicSNV | - | 4/4 |
| 12-768874-T-C | NINJ2 | c.33+3620A>G | - | intron_variant | - | 1/3 |
| 1-160090202-G-A | ATP1A2 | c.13-494G>A | - | IntronicSNV | - | 1/22 |
| X-65413981-A-T | HEPH | c.1531+501A>T | - | IntronicSNV | - | 8/20 |
| 7-150707488-C-T | NOS3 | c.2685+113C>T | - | IntronicSNV | - | 21/26 |
| 16-56939480-T-G | SLC12A3 | c.2951+1106T>G | - | IntronicSNV | - | 25/25 |
| 3-32491084-T-C | CMTM7 | c.432+40T>C | - | IntronicSNV | - | 3/4 |
| 3-32491084-T-A | CMTM7 | c.432+40T>A | - | IntronicSNV | - | 3/4 |
| 17-26096597-G-A | NOS2 | c.1823C>T | p.Ser608Leu | Missense | 16/27 | - |
| 3-99385698-A-T | COL8A1 | c.-190-8806A>T | - | intron_variant | - | 1/4 |
| 15-33954652-C-T | RYR3 | c.4921C>T | p.Arg1641Cys | Missense | 35/104 | - |
| 12-90013089-T-G | ATP2B1 | c.1829+687A>C | - | IntronicSNV | - | 11/20 |
| 10-106993770-C-T | SORCS3 | c.2868+10763C>T | - | IntronicSNV | - | 20/26 |
| 3-17394615-A-G | TBC1D5 | c.995+18952T>C | - | IntronicSNV | - | 13/21 |
| 12-683946-G-A | NINJ2 | c.34-8602C>T | - | intron_variant | - | 1/3 |
| 12-102042213-C-G | MYBPC1 | c.1121+285C>G | - | IntronicSNV | - | 12/29 |
| 10-67790146-G-C | CTNNA3 | c.2159+38920C>G | - | IntronicSNV | - | 15/17 |
| 10-106596095-A-T | SORCS3 | c.628-6455A>T | - | IntronicSNV | - | 1/26 |
| 3-32472734-G-A | CMTM7 | c.160-10598G>A | - | IntronicSNV | - | 1/4 |
| 3-32472734-G-C | CMTM7 | c.160-10598G>C | - | IntronicSNV | - | 1/4 |
| 15-48505080-C-T | SLC12A1 | c.420+4744C>T | - | IntronicSNV | - | 2/26 |
| 3-148441620-G-A | AGTR1 | c.-48+15806G>A | - | intron_variant | - | 2/2 |
| X-37504140-C-G | LANCL3 | c.574-10801C>G | - | IntronicSNV | - | 1/5 |
| 12-707660-C-G | NINJ2 | c.34-32316G>C | - | intron_variant | - | 1/3 |
| 1-160095127-T-A | ATP1A2 | c.748+84T>A | - | IntronicSNV | - | 7/22 |
| 1-230838331-G-T | AGT | c.*556C>A | - | 3-UTRSNV | 5/5 | - |
| 17-61560033-G-A | ACE | c.1325G>A | p.Arg442His | Missense | 8/25 | - |
| 1-117552560-T-C | CD101 | c.132T>C | p.Asn44Asn | Synonymous | 2/10 | - |
| 17-61574662-C-T | ACE | c.3856C>T | p.Arg1286Cys | Missense | 25/25 | - |
| 17-61560033-G-C | ACE | c.1325G>C | p.Arg442Pro | Missense | 8/25 | - |
| 12-90013089-T-C | ATP2B1 | c.1829+687A>G | - | IntronicSNV | - | 11/20 |
| 1-160097666-G-A | ATP1A2 | c.1017+56G>A | - | IntronicSNV | - | 8/22 |
| 1-230849482-C-T | AGT | c.-4+350G>A | - | intron_variant | - | 1/4 |
| 16-23221379-T-C | SCNN1G | c.1176+210T>C | - | IntronicSNV | - | 7/12 |
| 3-165548529-T-C | BCHE | c.293A>G | p.Asp98Gly | Missense | 2/4 | - |
| 22-36715274-A-G | MYH9 | c.1108+311T>C | - | IntronicSNV | - | 10/40 |
| 10-106554691-T-G | SORCS3 | c.628-47859T>G | - | IntronicSNV | - | 1/26 |
| 10-106964794-A-G | SORCS3 | c.2261+3783A>G | - | IntronicSNV | - | 16/26 |
| 1-230840942-G-A | AGT | c.1124+737C>T | - | IntronicSNV | - | 3/4 |
| 3-32473822-T-G | CMTM7 | c.160-9510T>G | - | IntronicSNV | - | 1/4 |
| 3-32473822-T-C | CMTM7 | c.160-9510T>C | - | IntronicSNV | - | 1/4 |
| 3-32473822-T-A | CMTM7 | c.160-9510T>A | - | IntronicSNV | - | 1/4 |
| 4-2930864-C-T | ADD1 | c.*614C>T | - | 3-UTRSNV | 15/15 | - |
| 15-63814640-G-A | USP3 | c.92-10206G>A | - | IntronicSNV | - | 1/13 |
| 1-6279370-G-C | RNF207 | c.1808G>C | p.Gly603Ala | Missense | 18/18 | - |
| 10-106404573-G-C | SORCS3 | c.627+2861G>C | - | IntronicSNV | - | 1/26 |
| 1-27475785-G-A | SLC9A1 | c.352+4689C>T | - | IntronicSNV | - | 1/11 |
| 17-61564522-T-C | ACE | c.2305+88T>C | - | IntronicSNV | - | 15/24 |
| 13-48955458-C-A | RB1 | c.1574C>A | p.Ala525Asp | Missense | 17/27 | - |
| 16-23196591-T-C | SCNN1G | c.1-1002T>C | - | IntronicSNV | - | 1/12 |
| 3-43626375-G-A | ANO10 | c.473-4411C>T | - | IntronicSNV | - | 4/12 |
| 15-31829707-C-T | OTUD7A | c.551-6696G>A | - | IntronicSNV | - | 6/13 |
| 1-11079077-A-G | TARDBP | c.543+147A>G | - | IntronicSNV | - | 4/5 |
| 16-23206290-T-A | SCNN1G | c.913+695T>A | - | IntronicSNV | - | 5/12 |
| 13-48955458-C-G | RB1 | c.1574C>G | p.Ala525Gly | Missense | 17/27 | - |
| 3-188075185-C-A | LPP | c.1-48724C>A | - | IntronicSNV | - | 2/10 |
| 1-230846679-T-C | AGT | c.1-83A>G | - | IntronicSNV | - | 1/4 |
| 6-12295987-C-T | EDN1 | c.534-208C>T | - | IntronicSNV | - | 4/4 |
| 3-188075185-C-T | LPP | c.1-48724C>T | - | IntronicSNV | - | 2/10 |
| 16-23336967-A-G | SCNN1B | c.1-22954A>G | - | IntronicSNV | - | 1/12 |
| 15-33873751-G-A | RYR3 | c.1480G>A | p.Val494Ile | Missense | 14/104 | - |
| 9-136514539-T-G | DBH | c.1191+1405T>G | - | IntronicSNV | - | 6/11 |
| 17-9392700-T-C | STX8 | c.541+2446A>G | - | IntronicSNV | - | 6/7 |
| 1-35260769-C-T | GJA4 | c.955C>T | p.Pro319Ser | Missense | 2/2 | - |
| 17-9392700-T-A | STX8 | c.541+2446A>T | - | IntronicSNV | - | 6/7 |
| 10-106834164-G-A | SORCS3 | c.1029-15369G>A | - | IntronicSNV | - | 5/26 |
| 6-12296255-G-T | EDN1 | c.594G>T | p.Lys198Asn | Missense | 5/5 | - |
| 1-29272057-C-A | EPB41 | c.-714-41886C>A | - | intron_variant | - | 1/20 |
| 15-45698793-T-A | SPATA5L1 | c.1275+1090T>A | - | IntronicSNV | - | 2/7 |
| 15-45698793-T-G | SPATA5L1 | c.1275+1090T>G | - | IntronicSNV | - | 2/7 |
| 1-204128567-C-T | REN | c.649G>A | p.Gly217Arg | Missense | 5/10 | - |
| 5-177991258-C-T | COL23A1 | c.295-3509G>A | - | IntronicSNV | - | 1/28 |
| 12-705338-A-T | NINJ2 | c.34-29994T>A | - | intron_variant | - | 1/3 |
| 22-36710183-T-C | MYH9 | c.1554+7A>G | - | IntronicSNV | - | 13/40 |
| 10-106557944-G-A | SORCS3 | c.628-44606G>A | - | IntronicSNV | - | 1/26 |
| 3-148432574-A-G | AGTR1 | c.-48+6760A>G | - | intron_variant | - | 2/2 |
| 3-148432574-A-C | AGTR1 | c.-48+6760A>C | - | intron_variant | - | 2/2 |
| 15-48584083-A-C | SLC12A1 | c.2960+22A>C | - | IntronicSNV | - | 24/26 |
| 1-169099483-A-G | ATP1B1 | c.648+155A>G | - | IntronicSNV | - | 5/5 |
| 16-56930251-T-C | SLC12A3 | c.2660+1697T>C | - | IntronicSNV | - | 22/25 |
| 10-106766194-T-C | SORCS3 | c.954+28943T>C | - | IntronicSNV | - | 4/26 |
| 4-2906707-G-T | ADD1 | c.1378G>T | p.Gly460Trp | Missense | 10/15 | - |
| 10-50951210-G-A | OGDHL | c.1862-186C>T | - | IntronicSNV | - | 14/22 |
| 10-106685341-C-T | SORCS3 | c.795+9651C>T | - | IntronicSNV | - | 3/26 |
| 20-10644614-C-T | JAG1 | c.436G>A | p.Val146Ile | Missense | 3/26 | - |
| 12-697095-C-G | NINJ2 | c.34-21751G>C | - | intron_variant | - | 1/3 |
| 12-697095-C-T | NINJ2 | c.34-21751G>A | - | intron_variant | - | 1/3 |
| 10-106957053-A-G | SORCS3 | c.2010-2704A>G | - | IntronicSNV | - | 14/26 |
| 10-106454672-T-C | SORCS3 | c.627+52960T>C | - | IntronicSNV | - | 1/26 |
| 10-106454672-T-G | SORCS3 | c.627+52960T>G | - | IntronicSNV | - | 1/26 |
| 1-155349541-A-G | ASH1L | c.6177+293T>C | - | IntronicSNV | - | 8/27 |
| 15-63809990-A-G | USP3 | c.91+12961A>G | - | IntronicSNV | - | 1/13 |
| 15-63816498-C-T | USP3 | c.92-8348C>T | - | IntronicSNV | - | 1/13 |
| 20-48149687-C-T | PTGIS | c.673+6420G>A | - | IntronicSNV | - | 5/9 |
| 16-23221379-T-G | SCNN1G | c.1176+210T>G | - | IntronicSNV | - | 7/12 |
| 20-10633313-T-A | JAG1 | c.756-67A>T | - | IntronicSNV | - | 5/25 |
| 4-77660162-G-C | SHROOM3 | c.836G>C | p.Gly279Ala | Missense | 5/11 | - |
| 12-6467961-A-G | SCNN1A | c.876-2915T>C | - | IntronicSNV | - | 4/12 |
| 15-48521115-T-G | SLC12A1 | c.725-271T>G | - | IntronicSNV | - | 5/26 |
| 3-148432213-C-T | AGTR1 | c.-48+6399C>T | - | intron_variant | - | 2/2 |
| 17-26115949-T-C | NOS2 | c.204A>G | p.Pro68Pro | Synonymous | 4/27 | - |
| 16-67993643-T-C | SLC12A4 | c.343-1696A>G | - | IntronicSNV | - | 3/23 |
| 4-77660162-G-A | SHROOM3 | c.836G>A | p.Gly279Asp | Missense | 5/11 | - |
| 17-26104622-T-A | NOS2 | c.1281+1094A>T | - | IntronicSNV | - | 11/26 |
| 15-63846178-T-C | USP3 | c.236+181T>C | - | IntronicSNV | - | 3/13 |
| 3-120119479-T-C | FSTL1 | c.806-673A>G | - | IntronicSNV | - | 9/10 |
| 17-26109102-G-A | NOS2 | c.661C>T | p.Arg221Trp | Missense | 7/27 | - |
| 1-41945902-C-T | EDN2 | c.444-729G>A | - | IntronicSNV | - | 4/4 |
| 12-129730186-T-C | TMEM132D | c.1300-35978A>G | - | IntronicSNV | - | 4/8 |
| 8-119498112-A-G | SAMD12 | c.193-45912T>C | - | IntronicSNV | - | 2/3 |
| 10-106945236-T-C | SORCS3 | c.2009+7305T>C | - | IntronicSNV | - | 14/26 |
| 4-2915369-G-T | ADD1 | c.1699-1242G>T | - | IntronicSNV | - | 12/14 |
| 22-36712472-A-G | MYH9 | c.1380+90T>C | - | IntronicSNV | - | 12/40 |
| 19-51323473-C-G | KLK1 | c.433G>C | p.Glu145Gln | Missense | 3/5 | - |
| 4-2916762-C-G | ADD1 | c.1850C>G | p.Ser617Cys | Missense | 13/15 | - |
| 15-48593251-T-G | SLC12A1 | c.3097-261T>G | - | IntronicSNV | - | 25/26 |
| 4-2916762-C-T | ADD1 | c.1850C>T | p.Ser617Phe | Missense | 13/15 | - |
| 16-83764204-T-C | CDH13 | c.1539-17509T>C | - | IntronicSNV | - | 10/13 |
| 20-48155767-T-C | PTGIS | c.673+340A>G | - | IntronicSNV | - | 5/9 |
| 16-23336365-C-A | SCNN1B | c.-9+22607C>A | - | intron_variant | - | 1/12 |
| 11-13517404-A-T | PTH | c.-6+54T>A | - | intron_variant | - | 1/2 |
| 3-32456946-C-T | CMTM7 | c.159+23389C>T | - | IntronicSNV | - | 1/4 |
| 12-771790-G-T | NINJ2 | c.33+704C>A | - | intron_variant | - | 1/3 |
| 12-713153-G-A | NINJ2 | c.34-37809C>T | - | intron_variant | - | 1/3 |
| 15-48570137-A-T | SLC12A1 | c.2485+3287A>T | - | IntronicSNV | - | 20/26 |
| 1-160090202-G-C | ATP1A2 | c.13-494G>C | - | IntronicSNV | - | 1/22 |
| 1-204132816-G-C | REN | c.99-1525C>G | - | IntronicSNV | - | 1/9 |
| 1-204132816-G-A | REN | c.99-1525C>T | - | IntronicSNV | - | 1/9 |
| X-148064903-G-A | AFF2 | c.3623+2583G>A | - | IntronicSNV | - | 19/20 |
| 1-204131594-A-C | REN | c.99-303T>G | - | IntronicSNV | - | 1/9 |
| 22-36684722-G-A | MYH9 | c.4770+51C>T | - | IntronicSNV | - | 33/40 |
| 3-148430767-G-A | AGTR1 | c.-48+4953G>A | - | intron_variant | - | 2/2 |
| 3-32451345-G-A | CMTM7 | c.159+17788G>A | - | IntronicSNV | - | 1/4 |
| 13-75861001-A-G | TBC1D4 | c.3824T>C | p.Val1275Ala | Missense | 21/21 | - |
| 11-46787573-T-C | CKAP5 | c.3412-767A>G | - | IntronicSNV | - | 27/42 |
| 10-106656680-C-G | SORCS3 | c.696-18911C>G | - | IntronicSNV | - | 2/26 |
| 1-53396842-T-G | SCP2 | c.69+3705T>G | - | IntronicSNV | - | 1/15 |
| 1-53396842-T-C | SCP2 | c.69+3705T>C | - | IntronicSNV | - | 1/15 |
| 9-27524731-A-G | IFNK | c.397A>G | p.Lys133Glu | Missense | 1/2 | - |
| 7-95162010-A-G | ASB4 | c.979-3739A>G | - | IntronicSNV | - | 3/4 |
| 9-27524731-A-T | IFNK | c.397A>T | p.Lys133* | Nonsense | 1/2 | - |
| 3-32447305-C-T | CMTM7 | c.159+13748C>T | - | IntronicSNV | - | 1/4 |
| 1-99365922-C-T | PLPPR5 | c.934-7262G>A | - | IntronicSNV | - | 5/5 |
| 12-6458350-A-G | SCNN1A | c.1477T>C | p.Trp493Arg | Missense | 10/13 | - |
| 15-63841675-G-A | USP3 | c.153-4239G>A | - | IntronicSNV | - | 2/13 |
| 12-42863262-A-G | PRICKLE1 | c.374T>C | p.Val125Ala | Missense | 4/8 | - |
| 15-48567477-C-T | SLC12A1 | c.2485+627C>T | - | IntronicSNV | - | 20/26 |
| 3-32453534-G-C | CMTM7 | c.159+19977G>C | - | IntronicSNV | - | 1/4 |
| 16-23227026-C-T | SCNN1G | c.*236C>T | - | 3-UTRSNV | 13/13 | - |
| 10-106529564-A-G | SORCS3 | c.628-72986A>G | - | IntronicSNV | - | 1/26 |
| 15-71191609-A-G | LRRC49 | c.194-1652A>G | - | IntronicSNV | - | 3/15 |
| 9-136515330-C-T | DBH | c.1192-1426C>T | - | IntronicSNV | - | 6/11 |
| 17-26111428-G-T | NOS2 | c.468-1296C>A | - | IntronicSNV | - | 5/26 |
| 17-26111428-G-C | NOS2 | c.468-1296C>G | - | IntronicSNV | - | 5/26 |
| 3-32445089-C-T | CMTM7 | c.159+11532C>T | - | IntronicSNV | - | 1/4 |
| 22-36707661-A-G | MYH9 | c.1728+433T>C | - | IntronicSNV | - | 14/40 |
| 3-138401299-A-G | PIK3CB | c.962-412T>C | - | IntronicSNV | - | 7/12 |
| 3-138401299-A-C | PIK3CB | c.962-412T>G | - | IntronicSNV | - | 7/12 |
| 16-56933519-G-A | SLC12A3 | c.2738G>A | p.Arg913Gln | Missense | 23/26 | - |
| 20-48131301-G-A | PTGIS | c.856-369C>T | - | IntronicSNV | - | 6/9 |
| 15-48542330-G-A | SLC12A1 | c.1786+457G>A | - | IntronicSNV | - | 14/26 |
| 16-56938290-G-A | SLC12A3 | c.2884-17G>A | - | IntronicSNV | - | 24/25 |
| 16-23200761-T-C | SCNN1G | c.387T>C | p.Tyr129Tyr | Synonymous | 3/13 | - |
| 16-56920910-G-C | SLC12A3 | c.2083G>C | p.Gly695Arg | Missense | 17/26 | - |
| 6-16649641-A-C | ATXN1 | c.-489+8366T>G | - | intron_variant | - | 4/8 |
| 3-148427034-T-C | AGTR1 | c.-48+1220T>C | - | intron_variant | - | 2/2 |
| 10-106411646-G-A | SORCS3 | c.627+9934G>A | - | IntronicSNV | - | 1/26 |
| 16-56921840-G-T | SLC12A3 | c.2182G>T | p.Ala728Ser | Missense | 18/26 | - |
| 13-48919923-T-C | RB1 | c.500+588T>C | - | IntronicSNV | - | 4/26 |
| 13-94007574-G-A | GPC6 | c.160+127705G>A | - | IntronicSNV | - | 1/8 |
| 15-63814640-G-T | USP3 | c.92-10206G>T | - | IntronicSNV | - | 1/13 |
| 12-21529150-G-T | IAPP | c.81-2021G>T | - | IntronicSNV | - | 2/2 |
| 19-10385417-C-T | ICAM1 | c.68-24C>T | - | IntronicSNV | - | 1/6 |
| 6-12925936-C-A | PHACTR1 | c.251-127661C>A | - | IntronicSNV | - | 4/14 |
| 10-106866289-A-G | SORCS3 | c.1212+1016A>G | - | IntronicSNV | - | 7/26 |
| 12-751308-T-G | NINJ2 | c.33+21186A>C | - | intron_variant | - | 1/3 |
| 17-26100144-T-G | NOS2 | c.1559+43A>C | - | IntronicSNV | - | 13/26 |
| 19-10385540-A-G | ICAM1 | c.167A>G | p.Lys56Arg | Missense | 2/7 | - |
| 5-174870150-C-T | DRD1 | c.1-48G>A | - | 5-UTRSNV | 2/2 | - |
| 7-95162010-A-T | ASB4 | c.979-3739A>T | - | IntronicSNV | - | 3/4 |
| 10-106731970-G-A | SORCS3 | c.796-5123G>A | - | IntronicSNV | - | 3/26 |
| 8-52714523-C-A | PXDNL | c.164+7218G>T | - | IntronicSNV | - | 1/22 |
| 15-45707914-A-G | SPATA5L1 | c.1774A>G | p.Asn592Asp | Missense | 5/8 | - |
| 9-136507473-G-A | DBH | c.631G>A | p.Ala211Thr | Missense | 3/12 | - |
| 17-61561756-A-T | ACE | c.1775A>T | p.Asp592Val | Missense | 12/25 | - |
| 17-61561756-A-G | ACE | c.1775A>G | p.Asp592Gly | Missense | 12/25 | - |
| 3-32445246-A-G | CMTM7 | c.159+11689A>G | - | IntronicSNV | - | 1/4 |
| 10-106656680-C-T | SORCS3 | c.696-18911C>T | - | IntronicSNV | - | 2/26 |
| 1-230844273-T-C | AGT | c.856+1468A>G | - | IntronicSNV | - | 2/4 |
| 6-12295814-G-A | EDN1 | c.534-381G>A | - | IntronicSNV | - | 4/4 |
| 6-12294137-T-C | EDN1 | c.234-37T>C | - | IntronicSNV | - | 2/4 |
| 17-61562373-A-G | ACE | c.1922-224A>G | - | IntronicSNV | - | 12/24 |
| 4-109781788-A-T | COL25A1 | c.1242+295T>A | - | IntronicSNV | - | 23/34 |
| 5-148206885-C-T | ADRB2 | c.491C>T | p.Thr164Ile | Missense | 1/1 | - |
| 3-165547973-C-G | BCHE | c.849G>C | p.Glu283Asp | Missense | 2/4 | - |
| 4-109781788-A-C | COL25A1 | c.1242+295T>G | - | IntronicSNV | - | 23/34 |
| 6-12294862-T-A | EDN1 | c.533+225T>A | - | IntronicSNV | - | 4/4 |
| 2-215664391-C-T | BARD1 | c.159-2550G>A | - | IntronicSNV | - | 1/10 |
| 10-106805350-T-C | SORCS3 | c.1028+2464T>C | - | IntronicSNV | - | 5/26 |
| 4-77675505-C-A | SHROOM3 | c.3869C>A | p.Pro1290Gln | Missense | 7/11 | - |
| 4-77675505-C-T | SHROOM3 | c.3869C>T | p.Pro1290Leu | Missense | 7/11 | - |
| 11-132179328-A-G | NTM | c.662-678A>G | - | IntronicSNV | - | 4/6 |
| 15-63817715-G-C | USP3 | c.92-7131G>C | - | IntronicSNV | - | 1/13 |
| 16-56939811-C-A | SLC12A3 | c.2951+1437C>A | - | IntronicSNV | - | 25/25 |
| 12-707575-G-A | NINJ2 | c.34-32231C>T | - | intron_variant | - | 1/3 |
| 12-707575-G-C | NINJ2 | c.34-32231C>G | - | intron_variant | - | 1/3 |
| 20-43263198-A-G | ADA | c.95+1670T>C | - | IntronicSNV | - | 2/11 |
| 16-84623516-A-C | COTL1 | c.318+195T>G | - | IntronicSNV | - | 3/3 |
| 15-48523267-A-G | SLC12A1 | c.975+567A>G | - | IntronicSNV | - | 7/26 |
| 10-106902433-C-A | SORCS3 | c.1302+3189C>A | - | IntronicSNV | - | 8/26 |
| 19-51323676-C-T | KLK1 | c.230G>A | p.Arg77His | Missense | 3/5 | - |
| 16-23383536-G-A | SCNN1B | c.1152+332G>A | - | IntronicSNV | - | 7/12 |
| 16-56936319-C-T | SLC12A3 | c.2782C>T | p.Arg928Cys | Missense | 24/26 | - |
| 4-2888441-A-G | ADD1 | c.510+2048A>G | - | IntronicSNV | - | 4/14 |
| 9-27524624-T-A | IFNK | c.290T>A | p.Ile97Asn | Missense | 1/2 | - |
| 9-136504923-C-T | DBH | c.340-45C>T | - | IntronicSNV | - | 1/11 |
| 16-56921840-G-A | SLC12A3 | c.2182G>A | p.Ala728Thr | Missense | 18/26 | - |