Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-67800018-G-A | IL12RB2 | c.958+3525G>A | - | IntronicSNV | - | 7/15 |
8-31983424-G-T | NRG1 | c.38-469922G>T | - | IntronicSNV | - | 1/11 |
12-44428853-G-T | TMEM117 | c.410+90708G>T | - | IntronicSNV | - | 3/7 |
6-31916400-A-G | CFB | c.1036+111A>G | - | IntronicSNV | - | 7/17 |
17-16080849-A-G | NCOR1 | c.243-5540T>C | - | IntronicSNV | - | 3/45 |
17-16080849-A-T | NCOR1 | c.243-5540T>A | - | IntronicSNV | - | 3/45 |
6-32154998-C-T | PBX2 | c.1024+21G>A | - | IntronicSNV | - | 6/8 |
2-218674697-C-T | TNS1 | c.4810G>A | p.Val1604Ile | Missense | 30/33 | - |
1-230221783-C-G | GALNT2 | c.126+18630C>G | - | IntronicSNV | - | 1/15 |
17-28538532-C-T | SLC6A4 | c.1205-90G>A | - | IntronicSNV | - | 9/14 |
3-190361217-G-T | IL1RAP | c.1052-820G>T | - | IntronicSNV | - | 8/10 |
1-55507314-G-A | PCSK9 | c.207+1597G>A | - | IntronicSNV | - | 1/11 |
9-128629537-G-A | PBX3 | c.50-48428G>A | - | IntronicSNV | - | 2/8 |
8-31970568-T-G | NRG1 | c.37+473621T>G | - | IntronicSNV | - | 1/11 |
19-36642874-T-G | COX7A1 | c.16-217A>C | - | IntronicSNV | - | 1/3 |
6-31783507-G-T | HSPA1A | c.1-27G>T | - | 5-UTRSNV | 1/1 | - |
12-89741267-G-A | DUSP6 | c.*1764C>T | - | IntergenicSNV | 3/3 | - |
12-89741267-G-T | DUSP6 | c.*1764C>A | - | IntergenicSNV | 3/3 | - |
2-37094897-T-C | STRN | c.1547+60A>G | - | IntronicSNV | - | 12/17 |
3-127491509-T-G | MGLL | c.262+9123A>C | - | IntronicSNV | - | 3/7 |
3-127491509-T-C | MGLL | c.262+9123A>G | - | IntronicSNV | - | 3/7 |
4-103536670-A-T | NFKB1 | c.2750-921A>T | - | IntronicSNV | - | 23/23 |
3-25548555-T-C | RARB | c.448+5741T>C | - | IntronicSNV | - | 3/7 |
6-31472720-G-T | MICB | c.71-674G>T | - | IntronicSNV | - | 1/5 |
16-27358190-G-A | IL4R | c.513+251G>A | - | IntronicSNV | - | 6/10 |
17-6900076-G-A | ALOX12 | c.136-69G>A | - | IntronicSNV | - | 1/13 |
3-25529280-C-T | RARB | c.307-13393C>T | - | IntronicSNV | - | 2/7 |
6-35378124-G-A | PPARD | c.1-741G>A | - | IntronicSNV | - | 2/7 |
4-103536670-A-G | NFKB1 | c.2750-921A>G | - | IntronicSNV | - | 23/23 |
5-148206917-C-A | ADRB2 | c.523C>A | p.Arg175Arg | Synonymous | 1/1 | - |
5-148206917-C-T | ADRB2 | c.523C>T | p.Arg175Trp | Missense | 1/1 | - |
11-68567825-G-C | CPT1A | c.556-1002C>G | - | IntronicSNV | - | 5/18 |
6-32151934-A-G | AGER | c.52+14T>C | - | IntronicSNV | - | 1/10 |
14-65041483-A-G | PPP1R36 | c.668+176A>G | - | IntronicSNV | - | 8/11 |
7-55141476-G-A | EGFR | c.88+54418G>A | - | IntronicSNV | - | 1/27 |
8-32453358-G-A | NRG1 | c.50G>A | p.Arg17Gln | Missense | 2/12 | - |
11-68567825-G-T | CPT1A | c.556-1002C>A | - | IntronicSNV | - | 5/18 |
1-55527918-C-T | PCSK9 | c.1863+689C>T | - | IntronicSNV | - | 11/11 |
12-53507213-G-A | SOAT2 | c.444-1961G>A | - | IntronicSNV | - | 5/14 |
6-31512720-G-C | ATP6V1G2 | c.*465C>G | - | 3-UTRSNV | 3/3 | - |
2-136555659-T-C | LCT | c.4916A>G | p.Asn1639Ser | Missense | 13/17 | - |
5-149189489-G-A | PPARGC1B | c.79-10507G>A | - | IntronicSNV | - | 1/11 |
6-35369491-A-G | PPARD | c.1-9374A>G | - | IntronicSNV | - | 2/7 |
6-136703304-C-T | MAP7 | c.637+1505G>A | - | IntronicSNV | - | 6/17 |
6-107665946-T-A | PDSS2 | c.297-10410A>T | - | IntronicSNV | - | 1/7 |
6-152422455-T-A | ESR1 | c.*2354T>A | - | 3-UTRSNV | 8/8 | - |
3-30692451-C-T | TGFBR2 | c.529+499C>T | - | IntronicSNV | - | 4/7 |
3-49395757-G-A | GPX1 | c.1-46C>T | - | 5-UTRSNV | 1/2 | - |
3-99483271-T-A | COL8A1 | c.-4+19406T>A | - | intron_variant | - | 3/4 |
6-107665946-T-C | PDSS2 | c.297-10410A>G | - | IntronicSNV | - | 1/7 |
6-32149816-T-C | AGER | c.964+208A>G | - | IntronicSNV | - | 8/10 |
6-32050067-T-G | TNXB | c.3482A>C | p.His1161Pro | Missense | 9/44 | - |
9-119453455-C-T | TRIM32 | c.-82+3795C>T | - | intron_variant | - | 1/1 |
1-55527479-A-G | PCSK9 | c.1863+250A>G | - | IntronicSNV | - | 11/11 |
7-139676574-G-A | TBXAS1 | c.1134+14542G>A | - | intron_variant | - | 9/12 |
6-35378778-C-T | PPARD | c.1-87C>T | - | 5-UTRSNV | 3/8 | - |
15-27116718-G-A | GABRA5 | c.86+2237G>A | - | IntronicSNV | - | 3/10 |
11-115341893-T-C | CADM1 | c.124+33096A>G | - | IntronicSNV | - | 1/9 |
3-38653277-A-C | SCN5A | c.704-1822T>G | - | IntronicSNV | - | 6/27 |
3-38653277-A-G | SCN5A | c.704-1822T>C | - | IntronicSNV | - | 6/27 |
1-55524601-G-C | PCSK9 | c.1503+281G>C | - | IntronicSNV | - | 9/11 |
5-52316172-C-T | ITGA2 | c.65-6406C>T | - | IntronicSNV | - | 1/29 |
3-38653277-A-T | SCN5A | c.704-1822T>A | - | IntronicSNV | - | 6/27 |
22-31209083-T-G | OSBP2 | c.854-57333T>G | - | IntronicSNV | - | 2/13 |
10-108836579-C-G | SORCS1 | c.558+87148G>C | - | IntronicSNV | - | 1/25 |
2-240025666-G-A | HDAC4 | c.2098-1074C>T | - | IntronicSNV | - | 15/26 |
6-31629499-A-G | GPANK1 | c.*544T>C | - | 3-UTRSNV | 3/3 | - |
6-31777946-C-T | HSPA1L | c.1804G>A | p.Glu602Lys | Missense | 2/2 | - |
12-25024151-G-A | BCAT1 | c.510+7313C>T | - | IntronicSNV | - | 5/10 |
6-31524851-C-T | NFKBIL1 | c.335-554C>T | - | IntronicSNV | - | 2/3 |
1-55524601-G-A | PCSK9 | c.1503+281G>A | - | IntronicSNV | - | 9/11 |
1-92312551-G-T | TGFBR3 | c.61+14477C>A | - | IntronicSNV | - | 2/16 |
9-98212608-C-T | PTCH1 | c.3450-386G>A | - | IntronicSNV | - | 20/23 |
15-99498412-G-C | IGF1R | c.3723-1878G>C | - | IntronicSNV | - | 20/20 |
5-52339114-T-C | ITGA2 | c.295+1063T>C | - | IntronicSNV | - | 3/29 |
3-170724390-G-A | SLC2A2 | c.613-496C>T | - | IntronicSNV | - | 5/10 |
17-53833551-G-A | PCTP | c.141+4946G>A | - | IntronicSNV | - | 1/5 |
1-53588752-G-A | SLC1A7 | c.216-8107C>T | - | IntronicSNV | - | 2/10 |
6-31917540-T-C | CFB | c.1408+206T>C | - | IntronicSNV | - | 10/17 |
6-32412592-G-C | HLA-DRA | c.*175G>C | - | 3_prime_UTR_variant | 5/5 | - |
6-32412592-G-A | HLA-DRA | c.*175G>A | - | 3_prime_UTR_variant | 5/5 | - |
10-108836579-C-T | SORCS1 | c.558+87148G>A | - | IntronicSNV | - | 1/25 |
6-31512720-G-T | ATP6V1G2 | c.*465C>A | - | 3-UTRSNV | 3/3 | - |
6-32050067-T-C | TNXB | c.3482A>G | p.His1161Arg | Missense | 9/44 | - |
6-32050067-T-A | TNXB | c.3482A>T | p.His1161Leu | Missense | 9/44 | - |
3-30697889-A-G | TGFBR2 | c.529+5937A>G | - | IntronicSNV | - | 4/7 |
5-485929-T-C | SLC9A3 | c.676-583A>G | - | IntronicSNV | - | 3/16 |
7-139676574-G-C | TBXAS1 | c.1134+14542G>C | - | intron_variant | - | 9/12 |
6-31618121-A-T | BAG6 | c.109-717T>A | - | IntronicSNV | - | 2/24 |
6-31618121-A-C | BAG6 | c.109-717T>G | - | IntronicSNV | - | 2/24 |
6-31946614-G-A | STK19 | c.568-66G>A | - | IntronicSNV | - | 3/7 |
6-31940897-A-G | STK19 | c.567+363A>G | - | IntronicSNV | - | 3/7 |
1-55523361-A-G | PCSK9 | c.1180+174A>G | - | IntronicSNV | - | 7/11 |
1-55507314-G-T | PCSK9 | c.207+1597G>T | - | IntronicSNV | - | 1/11 |
2-218683154-A-G | TNS1 | c.3589T>C | p.Trp1197Arg | Missense | 24/33 | - |
2-218683154-A-T | TNS1 | c.3589T>A | p.Trp1197Arg | Missense | 24/33 | - |
16-27366126-A-G | IL4R | c.671-1003A>G | - | IntronicSNV | - | 7/10 |
6-31783507-G-C | HSPA1A | c.1-27G>C | - | 5-UTRSNV | 1/1 | - |
3-119667289-G-A | GSK3B | c.283-1091C>T | - | IntronicSNV | - | 2/10 |
10-16880207-T-A | CUBN | c.10033-1826A>T | - | IntronicSNV | - | 62/66 |
8-100717494-G-A | VPS13B | c.6529+5334G>A | - | IntronicSNV | - | 36/61 |
17-43905481-T-G | CRHR1 | c.328-1100T>G | - | IntronicSNV | - | 4/13 |
1-156353970-A-G | RHBG | c.1028-348A>G | - | IntronicSNV | - | 9/11 |
22-31227901-T-C | OSBP2 | c.854-38515T>C | - | IntronicSNV | - | 2/13 |
2-218674697-C-G | TNS1 | c.4810G>C | p.Val1604Leu | Missense | 30/33 | - |
1-218614743-G-A | TGFB2 | c.*39G>A | - | 3-UTRSNV | 7/7 | - |
5-52289766-T-G | ITGA2 | c.64+4404T>G | - | IntronicSNV | - | 1/29 |
6-32628428-C-A | HLA-DQB1 | c.773-402G>T | - | IntronicSNV | - | 4/4 |
12-24990664-G-C | BCAT1 | c.818-1134C>G | - | IntronicSNV | - | 7/10 |
20-25195913-T-C | ENTPD6 | c.622+335T>C | - | IntronicSNV | - | 5/13 |
6-31783507-G-A | HSPA1A | c.1-27G>A | - | 5-UTRSNV | 1/1 | - |
17-67501174-T-C | MAP2K6 | c.17-747T>C | - | IntronicSNV | - | 1/11 |
17-67501174-T-A | MAP2K6 | c.17-747T>A | - | IntronicSNV | - | 1/11 |
21-43699230-G-A | ABCG1 | c.621+2175G>A | - | IntronicSNV | - | 5/14 |
1-55524237-G-A | PCSK9 | c.1420G>A | p.Val474Ile | Missense | 9/12 | - |
10-84514445-C-A | NRG3 | c.1027+16039C>A | - | IntronicSNV | - | 3/8 |