Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-100922404-A-C | PGR | c.2213-105T>G | - | IntronicSNV | - | 4/7 |
11-100922404-A-T | PGR | c.2213-105T>A | - | IntronicSNV | - | 4/7 |
4-103457585-G-T | NFKB1 | c.160-1430G>T | - | IntronicSNV | - | 4/23 |
1-169500590-C-A | F5 | c.4972-330G>T | - | IntronicSNV | - | 14/24 |
12-6435753-G-C | PLEKHG6 | c.1670+14G>C | - | IntronicSNV | - | 14/15 |
7-94033031-T-C | COL1A2 | c.280-837T>C | - | IntronicSNV | - | 6/51 |
9-137593652-G-C | COL5A1 | c.654+473G>C | - | IntronicSNV | - | 4/65 |
10-104156383-T-G | NFKB2 | c.145-99T>G | - | IntronicSNV | - | 4/22 |
12-6446777-G-A | TNFRSF1A | c.40-3367C>T | - | IntronicSNV | - | 1/9 |
1-161495885-T-G | HSPA6 | c.1437T>G | p.Thr479Thr | Synonymous | 1/1 | - |
1-161495885-T-C | HSPA6 | c.1437T>C | p.Thr479Thr | Synonymous | 1/1 | - |
5-132423764-T-C | HSPA4 | c.986-332T>C | - | IntronicSNV | - | 8/18 |
7-94048482-G-A | COL1A2 | c.2026-328G>A | - | IntronicSNV | - | 33/51 |
22-33251033-G-T | TIMP3 | c.205-2203G>T | - | IntronicSNV | - | 2/4 |
10-75673101-T-C | PLAU | c.422T>C | p.Leu141Pro | Missense | 6/11 | - |
16-55533270-A-G | MMP2 | c.1619+910A>G | - | IntronicSNV | - | 11/12 |
11-102668702-T-C | MMP1 | c.105+17A>G | - | IntronicSNV | - | 1/9 |
1-78992817-C-T | PTGFR | c.799-9274C>T | - | IntronicSNV | - | 2/2 |
14-81422868-G-C | TSHR | c.170+674G>C | - | IntronicSNV | - | 1/9 |
8-27363136-A-G | EPHX2 | c.537+473A>G | - | IntronicSNV | - | 4/18 |
10-104162770-G-C | PSD | c.*187C>G | - | 3-UTRSNV | 18/18 | - |
10-104162770-G-A | PSD | c.*187C>T | - | 3-UTRSNV | 18/18 | - |
22-33252224-C-G | TIMP3 | c.205-1012C>G | - | IntronicSNV | - | 2/4 |
4-187001292-C-A | TLR3 | c.633+1107C>A | - | IntronicSNV | - | 3/4 |
4-187001292-C-T | TLR3 | c.633+1107C>T | - | IntronicSNV | - | 3/4 |
14-81485149-G-A | TSHR | c.171-43343G>A | - | IntronicSNV | - | 1/9 |
7-95049818-T-C | PON2 | c.145+4009A>G | - | IntronicSNV | - | 2/8 |
1-186870263-G-T | PLA2G4A | c.379-5834G>T | - | IntronicSNV | - | 5/17 |
2-188370232-T-C | TFPI | c.1-1737A>G | - | IntronicSNV | - | 1/7 |
5-7875963-A-C | MTRR | c.401+475A>C | - | IntronicSNV | - | 4/14 |
11-100972336-T-C | PGR | c.1790-9729A>G | - | IntronicSNV | - | 2/7 |
14-81445245-G-A | TSHR | c.170+23051G>A | - | IntronicSNV | - | 1/9 |
16-27367999-C-T | IL4R | c.770+771C>T | - | IntronicSNV | - | 8/10 |
16-27367999-C-G | IL4R | c.770+771C>G | - | IntronicSNV | - | 8/10 |
5-76114859-C-G | F2RL1 | c.1-149C>G | - | 5-UTRSNV | 1/2 | - |
11-117032125-G-T | PAFAH1B2 | c.288+148G>T | - | IntronicSNV | - | 4/5 |
15-51542757-C-T | CYP19A1 | c.1-7648G>A | - | IntronicSNV | - | 1/9 |
5-132423969-G-T | HSPA4 | c.986-127G>T | - | IntronicSNV | - | 8/18 |
5-132423969-G-A | HSPA4 | c.986-127G>A | - | IntronicSNV | - | 8/18 |
3-190281591-A-T | IL1RAP | c.1-488A>T | - | IntronicSNV | - | 1/10 |
10-90769886-G-A | FAS | c.444-410G>A | - | IntronicSNV | - | 4/8 |
10-90769886-G-T | FAS | c.444-410G>T | - | IntronicSNV | - | 4/8 |
12-6450639-T-C | TNFRSF1A | c.39+303A>G | - | IntronicSNV | - | 1/9 |
2-190036018-A-G | COL5A2 | c.97+8216T>C | - | IntronicSNV | - | 1/53 |
22-37528362-T-G | IL2RB | c.903+62A>C | - | IntronicSNV | - | 9/9 |
11-102661595-A-G | MMP1 | c.1197-58T>C | - | IntronicSNV | - | 8/9 |
10-6069561-G-A | IL2RA | c.65-1573C>T | - | IntronicSNV | - | 1/7 |
11-102666164-T-C | MMP1 | c.781+19A>G | - | IntronicSNV | - | 5/9 |
21-44491425-C-T | CBS | c.209+670G>A | - | IntronicSNV | - | 3/16 |
15-51530167-G-A | CYP19A1 | c.146-961C>T | - | IntronicSNV | - | 2/9 |
7-100781615-G-A | SERPINE1 | c.*892G>A | - | 3-UTRSNV | 9/9 | - |
22-33216760-A-G | TIMP3 | c.121+18652A>G | - | IntronicSNV | - | 1/4 |
13-33635463-T-C | KL | c.2247T>C | p.Ala749Ala | Synonymous | 4/5 | - |
1-154426947-T-A | IL6R | c.1067-17T>A | - | IntronicSNV | - | 8/9 |
2-113890586-C-G | IL1RN | c.*138C>G | - | 3-UTRSNV | 6/6 | - |
10-75674549-G-T | PLAU | c.845G>T | p.Arg282Leu | Missense | 9/11 | - |
22-37523692-T-G | IL2RB | c.*444A>C | - | 3-UTRSNV | 10/10 | - |
2-234667582-A-T | UGT1A4 | c.868-8098A>T | - | IntronicSNV | - | 1/4 |
2-234667582-A-C | UGT1A4 | c.868-8098A>C | - | IntronicSNV | - | 1/4 |
2-234667582-A-G | UGT1A4 | c.868-8098A>G | - | IntronicSNV | - | 1/4 |
16-55527422-T-C | MMP2 | c.1322+217T>C | - | IntronicSNV | - | 9/12 |
1-186855206-T-C | PLA2G4A | c.116-6937T>C | - | IntronicSNV | - | 3/17 |
2-234679974-C-G | UGT1A1 | c.1305-934C>G | - | IntronicSNV | - | 4/4 |
2-102629530-G-A | IL1R2 | c.333-2803G>A | - | IntronicSNV | - | 3/8 |
14-81567678-G-A | TSHR | c.614+4627G>A | - | IntronicSNV | - | 7/9 |
13-33622695-C-T | KL | c.820-5209C>T | - | IntronicSNV | - | 1/4 |
17-2574821-G-T | PAFAH1B1 | c.569-1128G>T | - | IntronicSNV | - | 6/10 |
19-17003405-C-T | F2RL3 | c.*1973C>T | - | IntergenicSNV | 2/2 | - |
17-61573761-T-G | ACE | c.3387T>G | p.Phe1129Leu | Missense | 23/25 | - |
19-39397697-T-C | NFKBIB | c.620-164T>C | - | IntronicSNV | - | 3/5 |
6-161137990-G-A | PLG | c.787+195G>A | - | IntronicSNV | - | 7/18 |
21-34644082-G-T | IL10RB | c.173+3260G>T | - | IntronicSNV | - | 2/6 |
10-6056294-T-C | IL2RA | c.795-1435A>G | - | IntronicSNV | - | 7/7 |
3-190359456-G-A | IL1RAP | c.1052-2581G>A | - | IntronicSNV | - | 8/10 |
6-31778272-G-T | HSPA1L | c.1478C>A | p.Thr493Lys | Missense | 2/2 | - |
1-12268499-G-A | TNFRSF1B | c.*1422G>A | - | 3-UTRSNV | 10/10 | - |
5-76129053-T-C | F2RL1 | c.621T>C | p.Ile207Ile | Synonymous | 2/2 | - |
10-6080794-C-G | IL2RA | c.65-12806G>C | - | IntronicSNV | - | 1/7 |
7-94948626-A-C | PON1 | c.75-921T>G | - | IntronicSNV | - | 1/8 |
14-81457856-C-T | TSHR | c.170+35662C>T | - | IntronicSNV | - | 1/9 |
2-189952632-G-T | COL5A2 | c.645+789C>A | - | IntronicSNV | - | 8/53 |
15-51515351-C-T | CYP19A1 | c.452-629G>A | - | IntronicSNV | - | 4/9 |
2-189856671-C-T | COL3A1 | c.951+223C>T | - | IntronicSNV | - | 13/50 |
13-113773159-G-A | F7 | c.1238G>A | p.Arg413Gln | Missense | 9/9 | - |
5-76012913-C-G | F2R | c.88+693C>G | - | IntronicSNV | - | 1/1 |
11-100932603-T-C | PGR | c.2212+575A>G | - | IntronicSNV | - | 4/7 |
7-94949928-C-T | PON1 | c.75-2223G>A | - | IntronicSNV | - | 1/8 |
3-190238043-C-T | IL1RAP | c.-2+6035C>T | - | intron_variant | - | 1/10 |
22-31011557-T-C | TCN2 | c.754-31T>C | - | IntronicSNV | - | 5/8 |
7-94033112-C-T | COL1A2 | c.280-756C>T | - | IntronicSNV | - | 6/51 |
14-81427552-T-C | TSHR | c.170+5358T>C | - | IntronicSNV | - | 1/9 |
17-28550814-G-C | SLC6A4 | c.-220-881C>G | - | intron_variant | - | 1/14 |
17-28550814-G-A | SLC6A4 | c.-220-881C>T | - | intron_variant | - | 1/14 |
9-137734232-C-T | COL5A1 | c.*83C>T | - | 3-UTRSNV | 66/66 | - |
9-125145329-G-C | PTGS1 | c.763-459G>C | - | IntronicSNV | - | 7/10 |
17-28543389-C-A | SLC6A4 | c.838-155G>T | - | IntronicSNV | - | 6/14 |
2-234674476-A-G | UGT1A1 | c.865-1204A>G | - | IntronicSNV | - | 1/4 |
7-94033112-C-G | COL1A2 | c.280-756C>G | - | IntronicSNV | - | 6/51 |
7-100777267-T-C | SERPINE1 | c.899+93T>C | - | IntronicSNV | - | 5/8 |
14-81473990-T-C | TSHR | c.170+51796T>C | - | IntronicSNV | - | 1/9 |
1-186645927-C-T | PTGS2 | c.723+38G>A | - | IntronicSNV | - | 6/9 |
1-162776526-A-G | HSD17B7 | c.903+1244A>G | - | IntronicSNV | - | 8/8 |
2-189852115-T-C | COL3A1 | c.528+250T>C | - | IntronicSNV | - | 5/50 |
2-189852115-T-A | COL3A1 | c.528+250T>A | - | IntronicSNV | - | 5/50 |
13-113780910-T-C | F10 | c.71-2856T>C | - | IntronicSNV | - | 1/7 |
7-94035892-C-T | COL1A2 | c.594+277C>T | - | IntronicSNV | - | 12/51 |
7-94927924-C-T | PON1 | c.*332G>A | - | 3-UTRSNV | 9/9 | - |
1-237059387-A-T | MTR | c.3598+537A>T | - | IntronicSNV | - | 31/32 |
4-100236762-C-T | ADH1B | c.567+293G>A | - | IntronicSNV | - | 5/8 |
2-204733588-T-A | CTLA4 | c.109+814T>A | - | IntronicSNV | - | 1/3 |
5-76016975-G-A | F2R | c.88+4755G>A | - | IntronicSNV | - | 1/1 |
16-55543647-G-C | LPCAT2 | c.171+383G>C | - | IntronicSNV | - | 1/13 |
16-55543647-G-A | LPCAT2 | c.171+383G>A | - | IntronicSNV | - | 1/13 |
5-76250972-T-C | CRHBP | c.334-506T>C | - | IntronicSNV | - | 3/6 |
15-51527398-A-G | CYP19A1 | c.296+1658T>C | - | IntronicSNV | - | 3/9 |
1-186872454-A-G | PLA2G4A | c.379-3643A>G | - | IntronicSNV | - | 5/17 |
14-81457406-T-C | TSHR | c.170+35212T>C | - | IntronicSNV | - | 1/9 |
1-11865542-A-C | MTHFR | c.-14+403T>G | - | intron_variant | - | 1/11 |
4-186991137-A-C | TLR3 | c.-8+735A>C | - | intron_variant | - | 1/4 |
1-154382049-T-G | IL6R | c.85+3859T>G | - | IntronicSNV | - | 1/9 |
14-81610869-C-A | TSHR | c.*172C>A | - | 3-UTRSNV | 10/10 | - |
4-103501054-C-T | NFKB1 | c.731-638C>T | - | IntronicSNV | - | 8/23 |
4-103501054-C-G | NFKB1 | c.731-638C>G | - | IntronicSNV | - | 8/23 |
1-11857951-T-A | MTHFR | c.587-1495A>T | - | IntronicSNV | - | 4/11 |
1-11857951-T-C | MTHFR | c.587-1495A>G | - | IntronicSNV | - | 4/11 |
7-94923856-G-C | PPP1R9A | c.*4241G>C | - | 3-UTRSNV | 20/20 | - |
1-186879043-A-G | PLA2G4A | c.417-1337A>G | - | IntronicSNV | - | 6/17 |
2-188348670-T-G | TFPI | c.628+181A>C | - | IntronicSNV | - | 6/7 |
22-37533530-G-C | IL2RB | c.537+97C>G | - | IntronicSNV | - | 6/9 |
4-100241575-T-C | ADH1B | c.18+896A>G | - | IntronicSNV | - | 1/8 |
4-100241575-T-G | ADH1B | c.18+896A>C | - | IntronicSNV | - | 1/8 |
7-150689397-A-T | NOS3 | c.-52+1009A>T | - | intron_variant | - | 1/26 |
22-37541998-G-A | IL2RB | c.1-1786C>T | - | IntronicSNV | - | 1/9 |
4-142634956-G-C | IL15 | c.1-7346G>C | - | IntronicSNV | - | 2/9 |
7-30714436-A-G | CRHR2 | c.310+7095T>C | - | IntronicSNV | - | 3/12 |
1-236972728-C-T | MTR | c.409+655C>T | - | IntronicSNV | - | 4/32 |
10-14894901-T-C | HSPA14 | c.734+371T>C | - | IntronicSNV | - | 8/13 |
4-142637305-A-G | IL15 | c.-287-3226A>G | - | intron_variant | - | 3/9 |
4-187003025-C-G | TLR3 | c.634-449C>G | - | IntronicSNV | - | 3/4 |
7-94047677-C-T | COL1A2 | c.1972-134C>T | - | IntronicSNV | - | 32/51 |
4-142637305-A-T | IL15 | c.-287-3226A>T | - | intron_variant | - | 3/9 |
9-137687314-C-T | COL5A1 | c.2799+153C>T | - | IntronicSNV | - | 34/65 |
10-14891406-G-A | HSPA14 | c.377-314G>A | - | IntronicSNV | - | 5/13 |
1-169497926-T-G | F5 | c.5420-594A>C | - | IntronicSNV | - | 16/24 |
14-64886426-C-G | MTHFD1 | c.616-106C>G | - | IntronicSNV | - | 7/27 |
3-190240590-A-T | IL1RAP | c.-2+8582A>T | - | intron_variant | - | 1/10 |
17-18256979-C-T | SHMT1 | c.242+7G>A | - | IntronicSNV | - | 3/11 |
14-64886426-C-T | MTHFD1 | c.616-106C>T | - | IntronicSNV | - | 7/27 |
5-76117768-C-A | F2RL1 | c.82+2679C>A | - | IntronicSNV | - | 1/1 |
7-94949663-A-G | PON1 | c.75-1958T>C | - | IntronicSNV | - | 1/8 |
4-103526674-A-G | NFKB1 | c.1753-979A>G | - | IntronicSNV | - | 16/23 |
6-161133651-G-A | PLG | c.408-367G>A | - | IntronicSNV | - | 4/18 |
7-30714301-T-G | CRHR2 | c.310+7230A>C | - | IntronicSNV | - | 3/12 |
21-34653666-G-A | IL10RB | c.498+1443G>A | - | IntronicSNV | - | 4/6 |
5-76117768-C-T | F2RL1 | c.82+2679C>T | - | IntronicSNV | - | 1/1 |
1-226019774-G-A | EPHX1 | c.364+114G>A | - | IntronicSNV | - | 3/8 |
9-137717869-C-T | COL5A1 | c.5067+119C>T | - | IntronicSNV | - | 63/65 |
1-169500481-G-A | F5 | c.4972-221C>T | - | IntronicSNV | - | 14/24 |
1-169493953-A-C | F5 | c.5788+122T>G | - | IntronicSNV | - | 19/24 |
16-27370454-A-G | IL4R | c.849+139A>G | - | IntronicSNV | - | 9/10 |
10-14901929-C-G | HSPA14 | c.993+3987C>G | - | IntronicSNV | - | 10/13 |
13-113777509-A-G | F10 | c.70+270A>G | - | IntronicSNV | - | 1/7 |
14-52792500-A-G | PTGER2 | c.844-1439A>G | - | IntronicSNV | - | 1/1 |
21-34655623-A-G | IL10RB | c.646+77A>G | - | IntronicSNV | - | 5/6 |
11-102590717-G-A | MMP8 | c.623-1411C>T | - | IntronicSNV | - | 4/9 |
17-2573173-A-T | PAFAH1B1 | c.400-284A>T | - | IntronicSNV | - | 5/10 |
17-2573173-A-G | PAFAH1B1 | c.400-284A>G | - | IntronicSNV | - | 5/10 |
11-102590717-G-T | MMP8 | c.623-1411C>A | - | IntronicSNV | - | 4/9 |
5-76128649-C-G | F2RL1 | c.217C>G | p.Leu73Val | Missense | 2/2 | - |
15-51518769-C-T | CYP19A1 | c.451+1207G>A | - | IntronicSNV | - | 4/9 |
3-190290630-G-C | IL1RAP | c.64+8488G>C | - | IntronicSNV | - | 2/10 |
6-31783507-G-C | HSPA1A | c.1-27G>C | - | 5-UTRSNV | 1/1 | - |
11-102708787-G-A | MMP3 | c.1229+495C>T | - | IntronicSNV | - | 8/9 |
15-51501117-T-A | CYP19A1 | c.*1888A>T | - | 3-UTRSNV | 10/10 | - |
8-42037924-T-G | PLAT | c.1086-28A>C | - | IntronicSNV | - | 10/13 |
8-42037924-T-A | PLAT | c.1086-28A>T | - | IntronicSNV | - | 10/13 |
9-137620847-A-C | COL5A1 | c.924+194A>C | - | IntronicSNV | - | 6/65 |
9-137620847-A-T | COL5A1 | c.924+194A>T | - | IntronicSNV | - | 6/65 |
14-81432546-A-G | TSHR | c.170+10352A>G | - | IntronicSNV | - | 1/9 |
7-94948841-C-T | PON1 | c.75-1136G>A | - | IntronicSNV | - | 1/8 |
16-50756774-C-G | NOD2 | c.2798+158C>G | - | IntronicSNV | - | 8/11 |
2-234679974-C-A | UGT1A1 | c.1305-934C>A | - | IntronicSNV | - | 4/4 |
19-41864509-T-A | B9D2 | c.89-582A>T | - | IntronicSNV | - | 2/3 |
2-234679974-C-T | UGT1A1 | c.1305-934C>T | - | IntronicSNV | - | 4/4 |
3-190308527-G-A | IL1RAP | c.65-13390G>A | - | IntronicSNV | - | 2/10 |
3-12194085-T-C | SYN2 | c.774+1259T>C | - | intron_variant | - | 6/13 |
17-61560763-T-C | ACE | c.1488-58T>C | - | IntronicSNV | - | 9/24 |
3-190308527-G-T | IL1RAP | c.65-13390G>T | - | IntronicSNV | - | 2/10 |
15-51540387-G-A | CYP19A1 | c.1-5278C>T | - | IntronicSNV | - | 1/9 |
5-7885959-A-G | MTRR | c.1049A>G | p.Lys350Arg | Missense | 7/15 | - |
15-51605408-A-G | CYP19A1 | c.-39+25284T>C | - | intron_variant | - | 1/9 |
15-51503677-T-G | CYP19A1 | c.1264-424A>C | - | IntronicSNV | - | 9/9 |
15-51609714-A-G | CYP19A1 | c.-39+20978T>C | - | intron_variant | - | 1/9 |
4-142565693-T-C | IL15 | c.-624+7792T>C | - | intron_variant | - | 1/9 |
15-51613811-T-G | CYP19A1 | c.-39+16881A>C | - | intron_variant | - | 1/9 |
15-51606710-A-G | CYP19A1 | c.-39+23982T>C | - | intron_variant | - | 1/9 |
8-18068682-T-A | NAT1 | c.-86+993T>A | - | intron_variant | - | 1/2 |
9-132514889-C-T | PTGES | c.126+277G>A | - | IntronicSNV | - | 1/2 |
1-169526601-G-A | F5 | c.731-496C>T | - | IntronicSNV | - | 5/24 |
14-81495039-C-T | TSHR | c.171-33453C>T | - | IntronicSNV | - | 1/9 |
1-169505158-T-C | F5 | c.4971+586A>G | - | IntronicSNV | - | 14/24 |
15-51556594-C-T | CYP19A1 | c.1-21485G>A | - | IntronicSNV | - | 1/9 |
12-102796522-G-T | IGF1 | c.403-178C>A | - | IntronicSNV | - | 3/3 |
22-33259104-A-G | SYN3 | c.708+1798T>C | - | IntronicSNV | - | 6/13 |
7-94949329-A-G | PON1 | c.75-1624T>C | - | IntronicSNV | - | 1/8 |
X-118373306-A-C | PGRMC1 | c.329-966A>C | - | IntronicSNV | - | 1/2 |
3-190324570-G-T | IL1RAP | c.351-2214G>T | - | IntronicSNV | - | 3/10 |
1-209900615-G-T | HSD11B1 | c.518-5166G>T | - | IntronicSNV | - | 4/5 |
7-94029982-C-G | COL1A2 | c.225+382C>G | - | IntronicSNV | - | 5/51 |
7-94927677-A-C | PON1 | c.*579T>G | - | 3-UTRSNV | 9/9 | - |
15-51532647-T-C | CYP19A1 | c.145+2318A>G | - | IntronicSNV | - | 2/9 |
10-54528266-G-A | MBL2 | c.378C>T | p.Leu126Leu | Synonymous | 4/4 | - |
10-54528266-G-C | MBL2 | c.378C>G | p.Leu126Leu | Synonymous | 4/4 | - |
16-55536763-C-T | MMP2 | c.1692C>T | p.Pro564Pro | Synonymous | 12/13 | - |
16-55536763-C-G | MMP2 | c.1692C>G | p.Pro564Pro | Synonymous | 12/13 | - |
16-27359021-A-C | IL4R | c.513+1082A>C | - | IntronicSNV | - | 6/10 |
1-12233754-T-C | TNFRSF1B | c.78+6528T>C | - | IntronicSNV | - | 1/9 |
5-7876288-T-G | MTRR | c.401+800T>G | - | IntronicSNV | - | 4/14 |
11-100988034-C-T | PGR | c.1789+8704G>A | - | IntronicSNV | - | 2/7 |
1-79002544-C-T | PTGFR | c.*172C>T | - | 3-UTRSNV | 3/3 | - |
2-102773003-A-G | IL1R1 | c.1-1182A>G | - | IntronicSNV | - | 1/11 |
1-169541513-C-G | F5 | c.319G>C | p.Asp107His | Missense | 3/25 | - |
15-51613906-C-G | CYP19A1 | c.-39+16786G>C | - | intron_variant | - | 1/9 |
14-81591754-T-C | TSHR | c.693-14269T>C | - | IntronicSNV | - | 8/9 |
14-81591754-T-A | TSHR | c.693-14269T>A | - | IntronicSNV | - | 8/9 |
17-2577091-C-T | PAFAH1B1 | c.672-263C>T | - | IntronicSNV | - | 7/10 |
7-30707302-G-A | CRHR2 | c.311-373C>T | - | IntronicSNV | - | 3/12 |
7-94060509-G-T | COL1A2 | c.*804G>T | - | 3-UTRSNV | 52/52 | - |
9-137718196-T-G | COL5A1 | c.5067+446T>G | - | IntronicSNV | - | 63/65 |
1-186898065-C-T | PLA2G4A | c.559-3830C>T | - | IntronicSNV | - | 7/17 |
14-81592190-A-G | TSHR | c.693-13833A>G | - | IntronicSNV | - | 8/9 |
14-64920665-G-A | MTHFD1 | c.2565+86G>A | - | IntronicSNV | - | 25/27 |
10-6057732-G-T | IL2RA | c.794+2284C>A | - | IntronicSNV | - | 7/7 |
1-12246175-C-T | TNFRSF1B | c.79-2678C>T | - | IntronicSNV | - | 1/9 |
11-100931117-C-T | PGR | c.2212+2061G>A | - | IntronicSNV | - | 4/7 |
5-7866106-A-T | FASTKD3 | c.1439-10T>A | - | IntronicSNV | - | 2/6 |
1-11850365-T-A | MTHFR | c.*372A>T | - | 3-UTRSNV | 12/12 | - |
1-11850365-T-G | MTHFR | c.*372A>C | - | 3-UTRSNV | 12/12 | - |
2-189952632-G-A | COL5A2 | c.645+789C>T | - | IntronicSNV | - | 8/53 |
1-169529826-C-T | F5 | c.552G>A | p.Ser184Ser | Synonymous | 4/25 | - |
1-169529826-C-A | F5 | c.552G>T | p.Ser184Ser | Synonymous | 4/25 | - |
1-169529826-C-G | F5 | c.552G>C | p.Ser184Ser | Synonymous | 4/25 | - |
5-142780697-C-T | NR3C1 | c.1-293G>A | - | IntronicSNV | - | 1/8 |
9-132507910-T-C | PTGES | c.209+3024A>G | - | IntronicSNV | - | 2/2 |
5-132425049-A-G | HSPA4 | c.1244+196A>G | - | IntronicSNV | - | 10/18 |
6-41250961-A-G | TREM1 | c.50-472T>C | - | IntronicSNV | - | 1/3 |
10-6067969-C-T | IL2RA | c.84G>A | p.Pro28Pro | Synonymous | 2/8 | - |
2-189936687-T-G | COL5A2 | c.1158+79A>C | - | IntronicSNV | - | 18/53 |
12-68550815-T-C | IFNG | c.366+878A>G | - | IntronicSNV | - | 3/3 |
7-30698904-G-C | CRHR2 | c.912+1285C>G | - | IntronicSNV | - | 9/12 |
3-190304172-G-T | IL1RAP | c.65-17745G>T | - | IntronicSNV | - | 2/10 |
3-190304172-G-A | IL1RAP | c.65-17745G>A | - | IntronicSNV | - | 2/10 |
5-76263993-A-T | CRHBP | c.812-560A>T | - | IntronicSNV | - | 6/6 |
19-44156472-T-C | PLAUR | c.659A>G | p.Lys220Arg | Missense | 6/7 | - |
3-190252635-G-T | IL1RAP | c.-2+20627G>T | - | intron_variant | - | 1/10 |
1-154404380-C-G | IL6R | c.458+1298C>G | - | IntronicSNV | - | 3/9 |
14-52788472-A-T | PTGER2 | c.844-5467A>T | - | IntronicSNV | - | 1/1 |
7-30694961-C-T | CRHR2 | c.1134+235G>A | - | IntronicSNV | - | 11/12 |
4-142652130-A-C | IL15 | c.297+993A>C | - | IntronicSNV | - | 9/9 |
3-190262799-G-A | IL1RAP | c.1-19280G>A | - | IntronicSNV | - | 1/10 |
14-64903448-T-C | MTHFD1 | c.1597+1059T>C | - | IntronicSNV | - | 16/27 |
7-100775686-G-T | SERPINE1 | c.700+336G>T | - | IntronicSNV | - | 4/8 |
2-113889631-G-A | IL1RN | c.328-602G>A | - | IntronicSNV | - | 5/5 |
7-100775686-G-A | SERPINE1 | c.700+336G>A | - | IntronicSNV | - | 4/8 |
22-37530332-A-G | IL2RB | c.818+1036T>C | - | IntronicSNV | - | 8/9 |
15-51529112-T-C | CYP19A1 | c.240A>G | p.Val80Val | Synonymous | 3/10 | - |
1-169527101-T-C | F5 | c.731-996A>G | - | IntronicSNV | - | 5/24 |
7-94047266-C-A | COL1A2 | c.1971+123C>A | - | IntronicSNV | - | 32/51 |
14-81592717-A-G | TSHR | c.693-13306A>G | - | IntronicSNV | - | 8/9 |
21-44473867-G-C | CBS | c.*123C>G | - | 3-UTRSNV | 17/17 | - |
2-189866199-T-A | COL3A1 | c.2337+23T>A | - | IntronicSNV | - | 33/50 |
14-81515885-C-T | TSHR | c.171-12607C>T | - | IntronicSNV | - | 1/9 |
15-51613906-C-T | CYP19A1 | c.-39+16786G>A | - | intron_variant | - | 1/9 |
21-34669381-G-A | IL10RB | c.*719G>A | - | 3-UTRSNV | 7/7 | - |
2-234672722-T-G | UGT1A1 | c.864+2925T>G | - | IntronicSNV | - | 1/4 |
9-137672012-C-T | COL5A1 | c.2430+20C>T | - | IntronicSNV | - | 28/65 |
14-81459186-G-A | TSHR | c.170+36992G>A | - | IntronicSNV | - | 1/9 |
19-39390931-C-G | NFKBIB | c.179+80C>G | - | IntronicSNV | - | 1/5 |
8-27364787-T-C | EPHX2 | c.660+276T>C | - | IntronicSNV | - | 5/18 |
3-190262052-G-A | IL1RAP | c.1-20027G>A | - | IntronicSNV | - | 1/10 |
3-190300004-A-G | IL1RAP | c.64+17862A>G | - | IntronicSNV | - | 2/10 |
1-11852300-C-T | MTHFR | c.1632+35G>A | - | IntronicSNV | - | 10/11 |
16-27373467-A-C | IL4R | c.900-106A>C | - | IntronicSNV | - | 10/10 |
13-33609282-A-G | KL | c.819+17885A>G | - | IntronicSNV | - | 1/4 |
11-117863846-C-T | IL10RA | c.368-110C>T | - | IntronicSNV | - | 3/6 |
2-102634326-G-C | IL1R2 | c.514-1774G>C | - | IntronicSNV | - | 4/8 |
5-7887109-A-G | MTRR | c.1146+293A>G | - | IntronicSNV | - | 8/14 |
7-94936692-C-T | PON1 | c.698+631G>A | - | IntronicSNV | - | 6/8 |
15-51519276-T-G | CYP19A1 | c.451+700A>C | - | IntronicSNV | - | 4/9 |
3-190257179-A-G | IL1RAP | c.1-24900A>G | - | IntronicSNV | - | 1/10 |
3-190304172-G-C | IL1RAP | c.65-17745G>C | - | IntronicSNV | - | 2/10 |
17-18250527-C-T | SHMT1 | c.519+283G>A | - | IntronicSNV | - | 5/11 |
15-51534547-C-T | CYP19A1 | c.145+418G>A | - | IntronicSNV | - | 2/9 |
15-51534547-C-A | CYP19A1 | c.145+418G>T | - | IntronicSNV | - | 2/9 |
2-102630273-G-A | IL1R2 | c.333-2060G>A | - | IntronicSNV | - | 3/8 |
11-100972336-T-G | PGR | c.1790-9729A>C | - | IntronicSNV | - | 2/7 |
11-102585696-A-G | MMP8 | c.1037-256T>C | - | IntronicSNV | - | 7/9 |
19-39396649-C-T | NFKBIB | c.619+474C>T | - | IntronicSNV | - | 3/5 |
5-76012913-C-T | F2R | c.88+693C>T | - | IntronicSNV | - | 1/1 |
2-102783355-G-T | IL1R1 | c.655+614G>T | - | IntronicSNV | - | 6/11 |
1-186951429-A-G | PLA2G4A | c.2118+2825A>G | - | IntronicSNV | - | 17/17 |
5-132403433-A-G | HSPA4 | c.306+184A>G | - | IntronicSNV | - | 3/18 |
5-76129303-A-T | F2RL1 | c.871A>T | p.Thr291Ser | Missense | 2/2 | - |
17-28551121-C-T | SLC6A4 | c.1-2145G>A | - | IntronicSNV | - | 1/14 |
2-113886350-A-G | IL1RN | c.126-803A>G | - | IntronicSNV | - | 3/5 |
17-28543389-C-T | SLC6A4 | c.838-155G>A | - | IntronicSNV | - | 6/14 |
16-55536687-A-G | MMP2 | c.1620-4A>G | - | IntronicSNV | - | 11/12 |
9-125137695-A-T | PTGS1 | c.95-2483A>T | - | IntronicSNV | - | 2/10 |
1-11854671-C-A | MTHFR | c.1167-76G>T | - | IntronicSNV | - | 7/11 |
5-76129303-A-G | F2RL1 | c.871A>G | p.Thr291Ala | Missense | 2/2 | - |
17-28543389-C-G | SLC6A4 | c.838-155G>C | - | IntronicSNV | - | 6/14 |
14-81480897-A-C | TSHR | c.171-47595A>C | - | IntronicSNV | - | 1/9 |
8-18073182-T-C | NAT1 | c.-85-3738T>C | - | intron_variant | - | 1/2 |
9-120480812-T-C | TLR4 | c.*3886T>C | - | IntergenicSNV | 3/3 | - |
2-204734487-C-T | CTLA4 | c.110-822C>T | - | IntronicSNV | - | 1/3 |
5-79952034-A-G | MSH3 | c.238-196A>G | - | IntronicSNV | - | 1/23 |
21-34666492-C-T | IL10RB | c.805-1997C>T | - | IntronicSNV | - | 6/6 |
11-100905297-G-A | PGR | c.*4550C>T | - | 3-UTRSNV | 8/8 | - |
11-100905297-G-C | PGR | c.*4550C>G | - | 3-UTRSNV | 8/8 | - |
11-100961827-C-G | PGR | c.1906+664G>C | - | IntronicSNV | - | 3/7 |
10-14887979-C-T | HSPA14 | c.222-2629C>T | - | IntronicSNV | - | 3/13 |
14-81523128-T-C | TSHR | c.171-5364T>C | - | IntronicSNV | - | 1/9 |
2-113877495-G-T | IL1RN | c.11-148G>T | - | IntronicSNV | - | 1/5 |
19-17007026-T-C | CPAMD8 | c.5528A>G | p.Glu1843Gly | Missense | 42/42 | - |
7-22768707-T-G | IL6 | c.324+282T>G | - | IntronicSNV | - | 3/4 |
7-22768707-T-A | IL6 | c.324+282T>A | - | IntronicSNV | - | 3/4 |
1-12240824-T-G | TNFRSF1B | c.79-8029T>G | - | IntronicSNV | - | 1/9 |
5-7897191-C-T | MTRR | c.1783C>T | p.His595Tyr | Missense | 14/15 | - |
17-28550888-C-G | SLC6A4 | c.-220-955G>C | - | intron_variant | - | 1/14 |
17-28550888-C-T | SLC6A4 | c.-220-955G>A | - | intron_variant | - | 1/14 |
14-81599511-C-A | TSHR | c.693-6512C>A | - | IntronicSNV | - | 8/9 |
4-129208259-G-T | PGRMC2 | c.418+269C>A | - | intron_variant | - | 1/2 |
9-132501881-A-C | PTGES | c.*9T>G | - | 3-UTRSNV | 3/3 | - |
16-55517232-G-C | MMP2 | c.230+185G>C | - | IntronicSNV | - | 2/12 |
16-55517232-G-A | MMP2 | c.230+185G>A | - | IntronicSNV | - | 2/12 |
3-190261666-G-T | IL1RAP | c.1-20413G>T | - | IntronicSNV | - | 1/10 |
7-150689397-A-G | NOS3 | c.-52+1009A>G | - | intron_variant | - | 1/26 |
7-150689397-A-C | NOS3 | c.-52+1009A>C | - | intron_variant | - | 1/26 |
5-7876288-T-C | MTRR | c.401+800T>C | - | IntronicSNV | - | 4/14 |
1-172633350-A-G | FASLG | c.395-124A>G | - | IntronicSNV | - | 2/3 |
2-102783355-G-A | IL1R1 | c.655+614G>A | - | IntronicSNV | - | 6/11 |
2-102613013-C-G | IL1R2 | c.-62+4540C>G | - | intron_variant | - | 1/8 |
2-189936687-T-A | COL5A2 | c.1158+79A>T | - | IntronicSNV | - | 18/53 |
X-12903659-A-C | TLR7 | c.32A>C | p.Gln11Pro | Missense | 3/3 | - |
X-12903659-A-T | TLR7 | c.32A>T | p.Gln11Leu | Missense | 3/3 | - |
17-48265426-A-G | COL1A1 | c.3261+31T>C | - | IntronicSNV | - | 44/50 |
1-78980521-G-A | PTGFR | c.798+21295G>A | - | IntronicSNV | - | 2/2 |
14-81560134-A-G | TSHR | c.545+1182A>G | - | IntronicSNV | - | 6/9 |
11-102593248-T-G | MMP8 | c.259A>C | p.Lys87Gln | Missense | 2/10 | - |
1-186856248-T-C | PLA2G4A | c.116-5895T>C | - | IntronicSNV | - | 3/17 |
15-51614124-C-G | CYP19A1 | c.-39+16568G>C | - | intron_variant | - | 1/9 |
1-226013355-C-T | EPHX1 | c.-6+110C>T | - | intron_variant | - | 1/8 |
22-37529724-G-A | IL2RB | c.819-1216C>T | - | IntronicSNV | - | 8/9 |
2-188356110-A-G | TFPI | c.320-3008T>C | - | IntronicSNV | - | 3/7 |
4-103536901-G-A | NFKB1 | c.2750-690G>A | - | IntronicSNV | - | 23/23 |
14-64884106-T-C | MTHFD1 | c.479-500T>C | - | IntronicSNV | - | 6/27 |
5-76117117-C-G | F2RL1 | c.82+2028C>G | - | IntronicSNV | - | 1/1 |
2-190013146-G-A | COL5A2 | c.97+31088C>T | - | IntronicSNV | - | 1/53 |
6-31783507-G-A | HSPA1A | c.1-27G>A | - | 5-UTRSNV | 1/1 | - |
11-62186542-G-A | SCGB1A1 | c.1-26G>A | - | 5-UTRSNV | 1/3 | - |
14-81610583-G-C | TSHR | c.2181G>C | p.Glu727Asp | Missense | 10/10 | - |
11-117869670-A-G | IL10RA | c.1051A>G | p.Arg351Gly | Missense | 7/7 | - |
3-12189968-A-G | SYN2 | c.684+2633A>G | - | intron_variant | - | 5/13 |
17-2563261-T-A | PAFAH1B1 | c.33-5405T>A | - | IntronicSNV | - | 2/10 |
17-48262775-A-G | COL1A1 | c.*88T>C | - | 3-UTRSNV | 51/51 | - |
7-30698904-G-A | CRHR2 | c.912+1285C>T | - | IntronicSNV | - | 9/12 |
21-44483248-G-A | CBS | c.829-60C>T | - | IntronicSNV | - | 9/16 |
4-100226324-C-A | ADH1B | c.*2673G>T | - | IntergenicSNV | 9/9 | - |
7-94927677-A-G | PON1 | c.*579T>C | - | 3-UTRSNV | 9/9 | - |
1-78997461-G-C | PTGFR | c.799-4630G>C | - | IntronicSNV | - | 2/2 |
7-30713608-A-G | CRHR2 | c.311-6679T>C | - | IntronicSNV | - | 3/12 |
2-204733588-T-C | CTLA4 | c.109+814T>C | - | IntronicSNV | - | 1/3 |
11-102660959-A-G | MMP1 | c.*184T>C | - | 3-UTRSNV | 10/10 | - |
1-209894043-T-A | HSD11B1 | c.518-11738T>A | - | IntronicSNV | - | 4/5 |
1-95004084-A-T | F3 | c.212+1729T>A | - | IntronicSNV | - | 2/5 |
21-44478497-C-T | CBS | c.1359-134G>A | - | IntronicSNV | - | 14/16 |
1-209905734-G-C | HSD11B1 | c.518-47G>C | - | IntronicSNV | - | 4/5 |
3-190240744-A-G | IL1RAP | c.-2+8736A>G | - | intron_variant | - | 1/10 |
22-33253280-T-C | TIMP3 | c.249T>C | p.His83His | Synonymous | 3/5 | - |
10-6060433-C-T | IL2RA | c.728-351G>A | - | IntronicSNV | - | 6/7 |
10-6057732-G-A | IL2RA | c.794+2284C>T | - | IntronicSNV | - | 7/7 |
7-95060313-A-G | PON2 | c.74+3877T>C | - | IntronicSNV | - | 1/8 |
3-190280052-G-A | IL1RAP | c.1-2027G>A | - | IntronicSNV | - | 1/10 |
10-6066568-G-A | IL2RA | c.257-251C>T | - | IntronicSNV | - | 2/7 |
13-113770876-G-A | F7 | c.572-204G>A | - | IntronicSNV | - | 6/8 |
7-94046468-A-G | COL1A2 | c.1864-568A>G | - | IntronicSNV | - | 31/51 |
9-137704058-T-A | COL5A1 | c.3691-237T>A | - | IntronicSNV | - | 46/65 |
13-113792893-C-A | F10 | c.256+98C>A | - | IntronicSNV | - | 3/7 |
4-142637688-T-A | IL15 | c.1-4614T>A | - | IntronicSNV | - | 1/9 |
1-186851216-G-A | PLA2G4A | c.116-10927G>A | - | IntronicSNV | - | 3/17 |
2-189848384-T-A | COL3A1 | c.80-1102T>A | - | IntronicSNV | - | 1/50 |
9-137702813-A-C | COL5A1 | c.3529-372A>C | - | IntronicSNV | - | 44/65 |
4-103527068-G-A | NFKB1 | c.1753-585G>A | - | IntronicSNV | - | 16/23 |
1-12267265-A-G | TNFRSF1B | c.*188A>G | - | 3-UTRSNV | 10/10 | - |
1-11856847-G-A | MTHFR | c.587-391C>T | - | IntronicSNV | - | 4/11 |
11-46744925-G-C | F2 | c.423-7G>C | - | IntronicSNV | - | 5/13 |
11-46744925-G-A | F2 | c.423-7G>A | - | IntronicSNV | - | 5/13 |
3-190363116-A-G | IL1RAP | c.1202-372A>G | - | IntronicSNV | - | 9/10 |
14-81610942-C-T | TSHR | c.*245C>T | - | 3-UTRSNV | 10/10 | - |
7-94937893-G-A | PON1 | c.498-370C>T | - | IntronicSNV | - | 5/8 |
19-17003789-T-G | CPAMD8 | c.*130A>C | - | 3-UTRSNV | 42/42 | - |
19-17003789-T-A | CPAMD8 | c.*130A>T | - | 3-UTRSNV | 42/42 | - |
10-90771829-T-C | FAS | c.642T>C | p.Thr214Thr | Synonymous | 7/9 | - |
22-33224285-C-T | TIMP3 | c.122-21154C>T | - | IntronicSNV | - | 1/4 |
6-41246633-A-G | TREM1 | c.599+2066T>C | - | IntronicSNV | - | 3/3 |
16-27350687-A-G | IL4R | c.1-838A>G | - | IntronicSNV | - | 2/10 |
8-18077310-T-C | NAT1 | c.-7+312T>C | - | intron_variant | - | 2/2 |
1-169508576-A-C | F5 | c.4796+956T>G | - | IntronicSNV | - | 13/24 |
16-27352819-G-A | IL4R | c.71-623G>A | - | IntronicSNV | - | 3/10 |
4-100228466-T-C | ADH1B | c.*531A>G | - | 3-UTRSNV | 9/9 | - |
5-142726170-C-T | NR3C1 | c.1185-32437G>A | - | IntronicSNV | - | 2/8 |
7-94059317-G-A | COL1A2 | c.3955-242G>A | - | IntronicSNV | - | 51/51 |
1-162770647-A-G | HSD17B7 | c.642+920A>G | - | IntronicSNV | - | 5/8 |
9-125138695-A-C | PTGS1 | c.95-1483A>C | - | IntronicSNV | - | 2/10 |
9-125138695-A-G | PTGS1 | c.95-1483A>G | - | IntronicSNV | - | 2/10 |
8-27388199-G-A | EPHX2 | c.1170+5209G>A | - | IntronicSNV | - | 12/18 |
15-51579598-C-T | CYP19A1 | c.1-44489G>A | - | IntronicSNV | - | 1/9 |
5-76130113-T-A | F2RL1 | c.*487T>A | - | 3-UTRSNV | 2/2 | - |
1-236972186-A-G | MTR | c.409+113A>G | - | IntronicSNV | - | 4/32 |
1-226032229-C-T | EPHX1 | c.1071C>T | p.Asn357Asn | Synonymous | 8/9 | - |
1-169486128-G-A | F5 | c.6346-1264C>T | - | IntronicSNV | - | 23/24 |
14-81484599-T-C | TSHR | c.171-43893T>C | - | IntronicSNV | - | 1/9 |
3-190280165-T-G | IL1RAP | c.1-1914T>G | - | IntronicSNV | - | 1/10 |
3-190280165-T-A | IL1RAP | c.1-1914T>A | - | IntronicSNV | - | 1/10 |
2-188391250-C-T | TFPI | c.1-22755G>A | - | IntronicSNV | - | 1/7 |
10-90766213-T-C | FAS | c.197-1244T>C | - | IntronicSNV | - | 2/8 |
11-117860582-A-G | IL10RA | c.367+247A>G | - | IntronicSNV | - | 3/6 |
5-76019044-C-T | F2R | c.88+6824C>T | - | IntronicSNV | - | 1/1 |
16-27365468-A-G | IL4R | c.670+1451A>G | - | IntronicSNV | - | 7/10 |
3-190346658-T-A | IL1RAP | c.903-481T>A | - | IntronicSNV | - | 7/10 |
5-142767160-T-C | NR3C1 | c.1184+12061A>G | - | IntronicSNV | - | 2/8 |
7-94950177-C-T | PON1 | c.75-2472G>A | - | IntronicSNV | - | 1/8 |
7-94950177-C-G | PON1 | c.75-2472G>C | - | IntronicSNV | - | 1/8 |
X-12906030-G-A | TLR7 | c.2403G>A | p.Thr801Thr | Synonymous | 3/3 | - |
17-28555425-G-C | SLC6A4 | c.-220-5492C>G | - | intron_variant | - | 1/14 |
7-94930391-A-C | PON1 | c.909+1126T>G | - | IntronicSNV | - | 8/8 |
19-17008578-G-C | CPAMD8 | c.4989C>G | - | synonymous_variant | 39/42 | - |
1-162766476-C-T | HSD17B7 | c.332+9C>T | - | IntronicSNV | - | 3/8 |
22-37539713-T-C | IL2RB | c.89-38A>G | - | IntronicSNV | - | 2/9 |
22-37535471-C-T | IL2RB | c.283-209G>A | - | IntronicSNV | - | 4/9 |
16-27373558-C-A | IL4R | c.900-15C>A | - | IntronicSNV | - | 10/10 |
21-44480115-G-T | CBS | c.1145+436C>A | - | IntronicSNV | - | 12/16 |
1-169526601-G-C | F5 | c.731-496C>G | - | IntronicSNV | - | 5/24 |
11-102667063-C-T | MMP1 | c.625+332G>A | - | IntronicSNV | - | 4/9 |
1-186915177-A-T | PLA2G4A | c.1034-592A>T | - | IntronicSNV | - | 10/17 |
6-31778272-G-A | HSPA1L | c.1478C>T | p.Thr493Met | Missense | 2/2 | - |
6-31778272-G-C | HSPA1L | c.1478C>G | p.Thr493Arg | Missense | 2/2 | - |
1-186915177-A-G | PLA2G4A | c.1034-592A>G | - | IntronicSNV | - | 10/17 |
3-190341439-G-A | IL1RAP | c.775+235G>A | - | IntronicSNV | - | 6/10 |
16-55543647-G-T | LPCAT2 | c.171+383G>T | - | IntronicSNV | - | 1/13 |
10-6100725-G-A | IL2RA | c.64+3326C>T | - | IntronicSNV | - | 1/7 |
2-188410351-G-A | TFPI | c.-3+8576C>T | - | intron_variant | - | 1/7 |
3-12200906-C-T | SYN2 | c.775-2140C>T | - | intron_variant | - | 6/13 |
15-51622128-G-T | CYP19A1 | c.-39+8564C>A | - | intron_variant | - | 1/9 |
14-81443368-T-C | TSHR | c.170+21174T>C | - | IntronicSNV | - | 1/9 |
17-2583976-G-T | PAFAH1B1 | c.1159+362G>T | - | IntronicSNV | - | 10/10 |
7-94051450-T-C | COL1A2 | c.2403+186T>C | - | IntronicSNV | - | 39/51 |
11-46744925-G-T | F2 | c.423-7G>T | - | IntronicSNV | - | 5/13 |
19-39396335-A-T | NFKBIB | c.619+160A>T | - | IntronicSNV | - | 3/5 |
3-190361015-T-G | IL1RAP | c.1052-1022T>G | - | IntronicSNV | - | 8/10 |
10-6098949-C-T | IL2RA | c.64+5102G>A | - | IntronicSNV | - | 1/7 |
10-54529480-G-A | MBL2 | c.305-405C>T | - | IntronicSNV | - | 2/3 |
1-78990275-C-G | PTGFR | c.799-11816C>G | - | IntronicSNV | - | 2/2 |
10-75674549-G-A | PLAU | c.845G>A | p.Arg282His | Missense | 9/11 | - |
2-102788125-G-A | IL1R1 | c.722-136G>A | - | IntronicSNV | - | 7/11 |
1-11854755-G-A | MTHFR | c.1166+31C>T | - | IntronicSNV | - | 7/11 |
14-81594380-C-T | TSHR | c.693-11643C>T | - | IntronicSNV | - | 8/9 |
13-33630055-C-T | KL | c.1599+603C>T | - | IntronicSNV | - | 3/4 |
9-125145619-G-A | PTGS1 | c.763-169G>A | - | IntronicSNV | - | 7/10 |
10-6053163-T-A | IL2RA | c.*1672A>T | - | 3-UTRSNV | 8/8 | - |
9-137718196-T-C | COL5A1 | c.5067+446T>C | - | IntronicSNV | - | 63/65 |
22-33192544-C-T | SYN3 | c.708+68358G>A | - | IntronicSNV | - | 6/13 |
2-188398080-G-C | TFPI | c.-3+20847C>G | - | intron_variant | - | 1/7 |
1-209879599-C-T | HSD11B1 | c.219+313C>T | - | IntronicSNV | - | 2/5 |
1-169522554-G-T | F5 | c.1119-582C>A | - | IntronicSNV | - | 7/24 |
14-81470655-C-A | TSHR | c.170+48461C>A | - | IntronicSNV | - | 1/9 |
14-81470655-C-G | TSHR | c.170+48461C>G | - | IntronicSNV | - | 1/9 |
6-42892834-G-T | PTCRA | c.425-165G>T | - | IntronicSNV | - | 3/3 |
17-48263903-A-G | COL1A1 | c.3815-35T>C | - | IntronicSNV | - | 48/50 |
8-27367839-G-T | EPHX2 | c.661-1514G>T | - | IntronicSNV | - | 5/18 |
10-90767395-G-C | FAS | c.197-62G>C | - | IntronicSNV | - | 2/8 |
22-33213319-A-G | TIMP3 | c.121+15211A>G | - | IntronicSNV | - | 1/4 |
6-161152240-G-A | PLG | c.1414G>A | p.Asp472Asn | Missense | 11/19 | - |
6-43751075-A-G | VEGFA | c.1218-1203A>G | - | IntronicSNV | - | 7/7 |
22-33229830-A-G | TIMP3 | c.122-15609A>G | - | IntronicSNV | - | 1/4 |
14-81455409-T-C | TSHR | c.170+33215T>C | - | IntronicSNV | - | 1/9 |
7-95039445-C-T | PON2 | c.495-32G>A | - | IntronicSNV | - | 5/8 |
7-95039445-C-A | PON2 | c.495-32G>T | - | IntronicSNV | - | 5/8 |
17-43910455-G-A | CRHR1 | c.858-49G>A | - | IntronicSNV | - | 9/13 |
19-44169738-G-C | PLAUR | c.167-127C>G | - | IntronicSNV | - | 2/6 |
19-44169738-G-A | PLAUR | c.167-127C>T | - | IntronicSNV | - | 2/6 |
17-28538532-C-T | SLC6A4 | c.1205-90G>A | - | IntronicSNV | - | 9/14 |
15-51544359-C-T | CYP19A1 | c.1-9250G>A | - | IntronicSNV | - | 1/9 |
14-81471446-A-G | TSHR | c.170+49252A>G | - | IntronicSNV | - | 1/9 |
17-43912582-C-T | CRHR1 | c.*452C>T | - | 3-UTRSNV | 14/14 | - |
9-125154439-T-C | PTGS1 | c.1445-29T>C | - | IntronicSNV | - | 10/10 |
6-161153990-G-A | PLG | c.1588-1037G>A | - | IntronicSNV | - | 12/18 |
1-186917520-C-A | PLA2G4A | c.1264+1427C>A | - | IntronicSNV | - | 12/17 |
4-123373133-T-A | IL2 | c.352-116A>T | - | IntronicSNV | - | 3/3 |
4-123373133-T-C | IL2 | c.352-116A>G | - | IntronicSNV | - | 3/3 |
15-51611654-A-T | CYP19A1 | c.-39+19038T>A | - | intron_variant | - | 1/9 |
11-102593248-T-C | MMP8 | c.259A>G | p.Lys87Glu | Missense | 2/10 | - |
6-43742579-T-C | VEGFA | c.658+450T>C | - | IntronicSNV | - | 2/7 |
14-81574429-G-A | TSHR | c.615-290G>A | - | IntronicSNV | - | 7/9 |
14-64918412-A-G | MTHFD1 | c.2458-2060A>G | - | IntronicSNV | - | 24/27 |
9-137678306-G-T | COL5A1 | c.2646+412G>T | - | IntronicSNV | - | 31/65 |
1-95005220-G-A | F3 | c.212+593C>T | - | IntronicSNV | - | 2/5 |
3-190257624-T-A | IL1RAP | c.1-24455T>A | - | IntronicSNV | - | 1/10 |
19-44170586-A-T | PLAUR | c.167-975T>A | - | IntronicSNV | - | 2/6 |
9-125140206-G-A | PTGS1 | c.123G>A | p.Gln41Gln | Synonymous | 3/11 | - |
7-94040999-T-C | COL1A2 | c.1351-381T>C | - | IntronicSNV | - | 23/51 |
5-138710576-G-C | SLC23A1 | c.1561+2515C>G | - | IntronicSNV | - | 13/14 |
11-100910995-T-C | PGR | c.2647-993A>G | - | IntronicSNV | - | 7/7 |
1-154432042-G-C | IL6R | c.1160+4985G>C | - | IntronicSNV | - | 9/9 |
6-31783507-G-T | HSPA1A | c.1-27G>T | - | 5-UTRSNV | 1/1 | - |
X-12889763-T-G | TLR7 | c.3+4063T>G | - | IntronicSNV | - | 2/2 |
15-51548705-G-T | CYP19A1 | c.1-13596C>A | - | IntronicSNV | - | 1/9 |
15-51614124-C-T | CYP19A1 | c.-39+16568G>A | - | intron_variant | - | 1/9 |
11-100961827-C-T | PGR | c.1906+664G>A | - | IntronicSNV | - | 3/7 |
10-14887979-C-A | HSPA14 | c.222-2629C>A | - | IntronicSNV | - | 3/13 |
3-12192440-T-A | SYN2 | c.685-297T>A | - | intron_variant | - | 5/13 |
3-12192440-T-G | SYN2 | c.685-297T>G | - | intron_variant | - | 5/13 |
1-12262298-G-A | TNFRSF1B | c.1105+70G>A | - | IntronicSNV | - | 9/9 |
15-51614124-C-A | CYP19A1 | c.-39+16568G>T | - | intron_variant | - | 1/9 |
1-78957550-G-A | PTGFR | c.-73+629G>A | - | intron_variant | - | 1/2 |
22-33259625-T-C | SYN3 | c.708+1277A>G | - | IntronicSNV | - | 6/13 |
5-7877178-A-G | MTRR | c.402-879A>G | - | IntronicSNV | - | 4/14 |
8-27367839-G-C | EPHX2 | c.661-1514G>C | - | IntronicSNV | - | 5/18 |
3-190265429-G-A | IL1RAP | c.1-16650G>A | - | IntronicSNV | - | 1/10 |
14-81481332-A-C | TSHR | c.171-47160A>C | - | IntronicSNV | - | 1/9 |
3-190303805-A-G | IL1RAP | c.65-18112A>G | - | IntronicSNV | - | 2/10 |
17-48262775-A-T | COL1A1 | c.*88T>A | - | 3-UTRSNV | 51/51 | - |
8-42057370-G-T | PLAT | c.1-6667C>A | - | IntronicSNV | - | 1/13 |
11-112016514-G-A | IL18 | c.361-1974C>T | - | IntronicSNV | - | 5/5 |
10-6085312-G-A | IL2RA | c.65-17324C>T | - | IntronicSNV | - | 1/7 |
8-42056049-C-G | PLAT | c.1-5346G>C | - | IntronicSNV | - | 1/13 |
9-120474199-T-G | TLR4 | c.261-468T>G | - | IntronicSNV | - | 2/2 |
1-186933555-A-G | PLA2G4A | c.1580-986A>G | - | IntronicSNV | - | 14/17 |
5-132013299-C-G | IL4 | c.184-2107C>G | - | IntronicSNV | - | 2/3 |
2-234676413-T-C | UGT1A1 | c.997-82T>C | - | IntronicSNV | - | 2/4 |
13-33598987-A-G | KL | c.819+7590A>G | - | IntronicSNV | - | 1/4 |
13-33598987-A-C | KL | c.819+7590A>C | - | IntronicSNV | - | 1/4 |
14-81441353-A-G | TSHR | c.170+19159A>G | - | IntronicSNV | - | 1/9 |
3-190347523-G-C | IL1RAP | c.1051+236G>C | - | IntronicSNV | - | 8/10 |
3-190347523-G-A | IL1RAP | c.1051+236G>A | - | IntronicSNV | - | 8/10 |
15-51549044-G-A | CYP19A1 | c.1-13935C>T | - | IntronicSNV | - | 1/9 |
15-51549044-G-T | CYP19A1 | c.1-13935C>A | - | IntronicSNV | - | 1/9 |
1-209879846-T-G | HSD11B1 | c.220-208T>G | - | IntronicSNV | - | 2/5 |
5-132013299-C-A | IL4 | c.184-2107C>A | - | IntronicSNV | - | 2/3 |
5-132013299-C-T | IL4 | c.184-2107C>T | - | IntronicSNV | - | 2/3 |
7-94043239-C-A | COL1A2 | c.1645C>A | p.Pro549Thr | Missense | 28/52 | - |
7-94043239-C-G | COL1A2 | c.1645C>G | p.Pro549Ala | Missense | 28/52 | - |
10-6082953-G-T | IL2RA | c.65-14965C>A | - | IntronicSNV | - | 1/7 |
3-190327752-C-A | IL1RAP | c.537+782C>A | - | IntronicSNV | - | 4/10 |
1-154410955-C-T | IL6R | c.949+2369C>T | - | IntronicSNV | - | 6/9 |
6-44232074-A-G | NFKBIE | c.365+645T>C | - | intron_variant | - | 1/5 |
4-142651265-T-C | IL15 | c.297+128T>C | - | IntronicSNV | - | 9/9 |
1-154400320-A-G | IL6R | c.86-1352A>G | - | IntronicSNV | - | 1/9 |
2-189949189-T-C | COL5A2 | c.799-426A>G | - | IntronicSNV | - | 11/53 |
2-189949189-T-A | COL5A2 | c.799-426A>T | - | IntronicSNV | - | 11/53 |
10-6079846-G-A | IL2RA | c.65-11858C>T | - | IntronicSNV | - | 1/7 |
11-100934314-G-C | PGR | c.1907-831C>G | - | IntronicSNV | - | 3/7 |
1-154410955-C-A | IL6R | c.949+2369C>A | - | IntronicSNV | - | 6/9 |
7-94057418-A-C | COL1A2 | c.3527-187A>C | - | IntronicSNV | - | 49/51 |
10-14908241-A-T | HSPA14 | c.994-841A>T | - | IntronicSNV | - | 10/13 |
14-64882380-A-G | MTHFD1 | c.401A>G | p.Lys134Arg | Missense | 6/28 | - |
1-154400015-G-T | IL6R | c.86-1657G>T | - | IntronicSNV | - | 1/9 |
7-94054000-T-C | COL1A2 | c.2673+245T>C | - | IntronicSNV | - | 41/51 |
10-6090322-A-T | IL2RA | c.64+13729T>A | - | IntronicSNV | - | 1/7 |
2-189849330-A-G | COL3A1 | c.80-156A>G | - | IntronicSNV | - | 1/50 |
1-186823284-G-A | PLA2G4A | c.1-203G>A | - | IntronicSNV | - | 1/17 |
15-51569410-A-T | CYP19A1 | c.1-34301T>A | - | IntronicSNV | - | 1/9 |
17-28546914-C-T | SLC6A4 | c.344-965G>A | - | IntronicSNV | - | 3/14 |
3-190287285-T-G | IL1RAP | c.64+5143T>G | - | IntronicSNV | - | 2/10 |
3-190287285-T-A | IL1RAP | c.64+5143T>A | - | IntronicSNV | - | 2/10 |
17-28531793-C-T | SLC6A4 | c.1651-1436G>A | - | IntronicSNV | - | 13/14 |
5-132013963-A-C | IL4 | c.184-1443A>C | - | IntronicSNV | - | 2/3 |
22-37533786-C-G | IL2RB | c.389-11G>C | - | IntronicSNV | - | 5/9 |
2-102769786-C-T | IL1R1 | c.-83-615C>T | - | intron_variant | - | 1/11 |
4-129198402-C-T | PGRMC2 | c.419-4730G>A | - | intron_variant | - | 1/2 |
9-137703923-A-G | COL5A1 | c.3691-372A>G | - | IntronicSNV | - | 46/65 |
19-44172025-C-T | PLAUR | c.56-182G>A | - | IntronicSNV | - | 1/6 |
8-67085267-C-T | TRIM55 | c.1525-1439C>T | - | IntronicSNV | - | 9/9 |
14-81578702-C-T | TSHR | c.692+3906C>T | - | IntronicSNV | - | 8/9 |
5-79936318-G-A | DHFR | c.243-2490C>T | - | IntronicSNV | - | 3/5 |
5-79936318-G-T | DHFR | c.243-2490C>A | - | IntronicSNV | - | 3/5 |
X-12901562-G-A | TLR7 | c.4-2069G>A | - | IntronicSNV | - | 2/2 |
7-94050608-T-G | COL1A2 | c.2349+234T>G | - | IntronicSNV | - | 38/51 |
4-100239112-A-C | ADH1B | c.259+91T>G | - | IntronicSNV | - | 3/8 |
2-102772669-C-G | IL1R1 | c.1-1516C>G | - | IntronicSNV | - | 2/11 |
6-161160644-G-A | PLG | c.2018+404G>A | - | IntronicSNV | - | 16/18 |
10-104157711-T-G | NFKB2 | c.662-27T>G | - | IntronicSNV | - | 8/22 |
10-104157711-T-C | NFKB2 | c.662-27T>C | - | IntronicSNV | - | 8/22 |
13-33613132-G-A | KL | c.820-14772G>A | - | IntronicSNV | - | 1/4 |
2-113876779-G-A | IL1RN | c.11-864G>A | - | IntronicSNV | - | 1/5 |
5-138705588-A-G | SLC23A1 | c.*2107T>C | - | IntronicSNV | - | 14/14 |
5-138705588-A-T | SLC23A1 | c.*2107T>A | - | IntronicSNV | - | 14/14 |
5-138705588-A-C | SLC23A1 | c.*2107T>G | - | IntronicSNV | - | 14/14 |
19-39396557-A-C | NFKBIB | c.619+382A>C | - | IntronicSNV | - | 3/5 |
8-27369334-A-G | EPHX2 | c.661-19A>G | - | IntronicSNV | - | 5/18 |
8-27369334-A-C | EPHX2 | c.661-19A>C | - | IntronicSNV | - | 5/18 |
16-55526487-G-T | MMP2 | c.1187-583G>T | - | IntronicSNV | - | 8/12 |
9-137726429-A-T | COL5A1 | c.5137-388A>T | - | IntronicSNV | - | 64/65 |
9-137701802-A-G | COL5A1 | c.3475-299A>G | - | IntronicSNV | - | 43/65 |
9-137726429-A-G | COL5A1 | c.5137-388A>G | - | IntronicSNV | - | 64/65 |
5-7878179-C-T | MTRR | c.524C>T | p.Ser175Leu | Missense | 5/15 | - |
22-33236544-G-A | TIMP3 | c.122-8895G>A | - | IntronicSNV | - | 1/4 |
17-2508249-G-A | PAFAH1B1 | c.-191+10949G>A | - | intron_variant | - | 1/10 |
9-137733714-T-C | COL5A1 | c.5371-289T>C | - | IntronicSNV | - | 65/65 |
5-138714474-G-A | SLC23A1 | c.1086-101C>T | - | IntronicSNV | - | 9/14 |
10-90761865-T-C | FAS | c.31-921T>C | - | IntronicSNV | - | 1/8 |
3-190279866-G-A | IL1RAP | c.1-2213G>A | - | IntronicSNV | - | 1/10 |
13-113796138-G-A | F10 | c.502+774G>A | - | IntronicSNV | - | 5/7 |
17-2574821-G-A | PAFAH1B1 | c.569-1128G>A | - | IntronicSNV | - | 6/10 |
10-6053374-A-G | IL2RA | c.*1461T>C | - | 3-UTRSNV | 8/8 | - |
22-33204334-C-T | TIMP3 | c.121+6226C>T | - | IntronicSNV | - | 1/4 |
11-100905056-C-A | PGR | c.*4791G>T | - | 3-UTRSNV | 8/8 | - |
7-94046676-C-T | COL1A2 | c.1864-360C>T | - | IntronicSNV | - | 31/51 |
2-189981212-G-T | COL5A2 | c.98-6037C>A | - | IntronicSNV | - | 1/53 |
12-6447522-G-T | TNFRSF1A | c.39+3420C>A | - | IntronicSNV | - | 1/9 |
12-6447522-G-A | TNFRSF1A | c.39+3420C>T | - | IntronicSNV | - | 1/9 |
14-81572310-T-C | TSHR | c.615-2409T>C | - | IntronicSNV | - | 7/9 |
2-188362974-C-T | TFPI | c.122-1169G>A | - | IntronicSNV | - | 2/7 |
13-33622817-G-A | KL | c.820-5087G>A | - | IntronicSNV | - | 1/4 |
5-7865891-C-A | FASTKD3 | c.1524+120G>T | - | IntronicSNV | - | 3/6 |
3-190273818-C-T | IL1RAP | c.1-8261C>T | - | IntronicSNV | - | 1/10 |
6-43742579-T-G | VEGFA | c.658+450T>G | - | IntronicSNV | - | 2/7 |
12-6447437-C-T | TNFRSF1A | c.39+3505G>A | - | IntronicSNV | - | 1/9 |
12-6447437-C-G | TNFRSF1A | c.39+3505G>C | - | IntronicSNV | - | 1/9 |
7-94923856-G-T | PPP1R9A | c.*4241G>T | - | 3-UTRSNV | 20/20 | - |
7-94923856-G-A | PPP1R9A | c.*4241G>A | - | 3-UTRSNV | 20/20 | - |
11-112029721-A-G | IL18 | c.1-3945T>C | - | IntronicSNV | - | 1/5 |
11-112029721-A-T | IL18 | c.1-3945T>A | - | IntronicSNV | - | 1/5 |
10-54526622-A-G | MBL2 | c.*1275T>C | - | 3-UTRSNV | 4/4 | - |
10-54525509-A-C | MBL2 | c.*2388T>G | - | 3-UTRSNV | 4/4 | - |
3-190267900-G-C | IL1RAP | c.1-14179G>C | - | IntronicSNV | - | 1/10 |
3-190267900-G-A | IL1RAP | c.1-14179G>A | - | IntronicSNV | - | 1/10 |
3-190267900-G-T | IL1RAP | c.1-14179G>T | - | IntronicSNV | - | 1/10 |
3-190357532-A-G | IL1RAP | c.1052-4505A>G | - | IntronicSNV | - | 8/10 |
3-190357532-A-C | IL1RAP | c.1052-4505A>C | - | IntronicSNV | - | 8/10 |
16-55539191-C-G | MMP2 | c.1730-60C>G | - | IntronicSNV | - | 12/12 |
2-234681416-T-C | UGT1A1 | c.*211T>C | - | 3-UTRSNV | 5/5 | - |
3-190357532-A-T | IL1RAP | c.1052-4505A>T | - | IntronicSNV | - | 8/10 |
9-137698504-C-T | COL5A1 | c.3366+362C>T | - | IntronicSNV | - | 42/65 |
2-190032578-C-T | COL5A2 | c.97+11656G>A | - | IntronicSNV | - | 1/53 |
11-117861055-C-T | IL10RA | c.367+720C>T | - | IntronicSNV | - | 3/6 |
15-51588847-G-T | CYP19A1 | c.-39+41845C>A | - | intron_variant | - | 1/9 |
15-51588847-G-A | CYP19A1 | c.-39+41845C>T | - | intron_variant | - | 1/9 |
14-81471139-A-C | TSHR | c.170+48945A>C | - | IntronicSNV | - | 1/9 |
2-190001183-T-A | COL5A2 | c.98-26008A>T | - | IntronicSNV | - | 1/53 |
2-190001183-T-C | COL5A2 | c.98-26008A>G | - | IntronicSNV | - | 1/53 |
3-190324570-G-A | IL1RAP | c.351-2214G>A | - | IntronicSNV | - | 3/10 |
2-102643525-C-T | IL1R2 | c.1030+810C>T | - | IntronicSNV | - | 8/8 |
14-81471139-A-T | TSHR | c.170+48945A>T | - | IntronicSNV | - | 1/9 |
2-189860630-A-C | COL3A1 | c.1608+114A>C | - | IntronicSNV | - | 22/50 |
5-79945140-T-C | DHFR | c.242+68A>G | - | IntronicSNV | - | 3/5 |
5-7880287-T-C | MTRR | c.780+1852T>C | - | IntronicSNV | - | 5/14 |
7-94950055-T-G | PON1 | c.75-2350A>C | - | IntronicSNV | - | 1/8 |
14-52788472-A-C | PTGER2 | c.844-5467A>C | - | IntronicSNV | - | 1/1 |
8-67086350-G-A | TRIM55 | c.1525-356G>A | - | IntronicSNV | - | 9/9 |
17-48269302-G-A | COL1A1 | c.2028+39C>T | - | IntronicSNV | - | 30/50 |
7-150707488-C-T | NOS3 | c.2685+113C>T | - | IntronicSNV | - | 21/26 |
14-81564339-A-T | TSHR | c.614+1288A>T | - | IntronicSNV | - | 7/9 |
1-226019774-G-C | EPHX1 | c.364+114G>C | - | IntronicSNV | - | 3/8 |
21-44474663-G-T | CBS | c.1553-570C>A | - | IntronicSNV | - | 16/16 |
4-103426339-T-C | NFKB1 | c.-8+3394T>C | - | intron_variant | - | 1/23 |
10-54529325-A-G | MBL2 | c.305-250T>C | - | IntronicSNV | - | 2/3 |
1-186952409-A-G | PLA2G4A | c.2118+3805A>G | - | IntronicSNV | - | 17/17 |
2-102774054-G-A | IL1R1 | c.1-131G>A | - | IntronicSNV | - | 2/11 |
16-27354531-C-G | IL4R | c.209+951C>G | - | IntronicSNV | - | 4/10 |
17-2586229-A-G | PAFAH1B1 | c.*1133A>G | - | 3-UTRSNV | 11/11 | - |
9-137688577-A-G | COL5A1 | c.2845-117A>G | - | IntronicSNV | - | 35/65 |
15-51579975-C-A | CYP19A1 | c.1-44866G>T | - | IntronicSNV | - | 1/9 |
15-51594972-G-A | CYP19A1 | c.-39+35720C>T | - | intron_variant | - | 1/9 |
5-142697295-A-T | NR3C1 | c.1185-3562T>A | - | IntronicSNV | - | 2/8 |
4-100258155-C-T | ADH1C | c.1104-222G>A | - | IntronicSNV | - | 8/8 |
3-190347732-T-A | IL1RAP | c.1051+445T>A | - | IntronicSNV | - | 8/10 |
1-169538466-G-A | F5 | c.373+2993C>T | - | IntronicSNV | - | 3/24 |
14-81448282-C-G | TSHR | c.170+26088C>G | - | IntronicSNV | - | 1/9 |
14-81448282-C-A | TSHR | c.170+26088C>A | - | IntronicSNV | - | 1/9 |
2-189874873-C-G | COL3A1 | c.3824-31C>G | - | IntronicSNV | - | 48/50 |
2-189874873-C-A | COL3A1 | c.3824-31C>A | - | IntronicSNV | - | 48/50 |
9-125145743-T-C | PTGS1 | c.763-45T>C | - | IntronicSNV | - | 7/10 |
16-27354531-C-T | IL4R | c.209+951C>T | - | IntronicSNV | - | 4/10 |
1-226015116-A-G | EPHX1 | c.1-1315A>G | - | IntronicSNV | - | 1/8 |
2-188343497-T-G | TFPI | c.628+5354A>C | - | IntronicSNV | - | 6/7 |
14-81524407-T-C | TSHR | c.171-4085T>C | - | IntronicSNV | - | 1/9 |
14-81607731-C-A | TSHR | c.881+1520C>A | - | IntronicSNV | - | 9/9 |
17-28561755-A-T | SLC6A4 | c.-221+876T>A | - | intron_variant | - | 1/14 |
11-102663503-T-C | MMP1 | c.900-34A>G | - | IntronicSNV | - | 6/9 |
16-27370454-A-T | IL4R | c.849+139A>T | - | IntronicSNV | - | 9/10 |
6-41243991-C-T | TREM1 | c.600-23G>A | - | IntronicSNV | - | 3/3 |
16-50765376-A-G | NOD2 | c.3051-282A>G | - | IntronicSNV | - | 11/11 |
2-25384833-T-C | POMC | c.133-212A>G | - | IntronicSNV | - | 3/3 |
9-125136884-A-G | PTGS1 | c.95-3294A>G | - | IntronicSNV | - | 2/10 |
2-188368791-C-T | TFPI | c.1-296G>A | - | IntronicSNV | - | 1/7 |
13-33610151-T-G | KL | c.820-17753T>G | - | IntronicSNV | - | 1/4 |
16-50751175-T-G | NOD2 | c.2630+290T>G | - | IntronicSNV | - | 6/11 |
10-14882340-A-T | HSPA14 | c.221+184A>T | - | IntronicSNV | - | 3/13 |
15-51501117-T-C | CYP19A1 | c.*1888A>G | - | 3-UTRSNV | 10/10 | - |
10-75676220-G-T | PLAU | c.1193G>T | p.Arg398Leu | Missense | 11/11 | - |
17-61556298-C-G | ACE | c.418-70C>G | - | IntronicSNV | - | 2/24 |
10-75676220-G-A | PLAU | c.1193G>A | p.Arg398His | Missense | 11/11 | - |
2-188414161-T-A | TFPI | c.-3+4766A>T | - | intron_variant | - | 1/7 |
2-188414161-T-C | TFPI | c.-3+4766A>G | - | intron_variant | - | 1/7 |
15-51516055-C-A | CYP19A1 | c.452-1333G>T | - | IntronicSNV | - | 4/9 |
4-103536670-A-G | NFKB1 | c.2750-921A>G | - | IntronicSNV | - | 23/23 |
4-100263584-T-G | ADH1C | c.828+368A>C | - | IntronicSNV | - | 6/8 |
14-64914537-T-C | MTHFD1 | c.2179-398T>C | - | IntronicSNV | - | 22/27 |
14-64861387-G-A | MTHFD1 | c.42-6124G>A | - | IntronicSNV | - | 1/27 |
10-90764891-G-C | FAS | c.196+1940G>C | - | IntronicSNV | - | 2/8 |
10-90764891-G-A | FAS | c.196+1940G>A | - | IntronicSNV | - | 2/8 |
4-103536670-A-T | NFKB1 | c.2750-921A>T | - | IntronicSNV | - | 23/23 |
2-102616978-T-A | IL1R2 | c.1-8060T>A | - | IntronicSNV | - | 1/8 |
11-46754649-C-T | F2 | c.1654+3538C>T | - | IntronicSNV | - | 12/13 |
1-162776137-G-A | HSD17B7 | c.903+855G>A | - | IntronicSNV | - | 8/8 |
22-37526529-G-A | IL2RB | c.904-1641C>T | - | IntronicSNV | - | 9/9 |
8-27389167-G-A | EPHX2 | c.1171-5134G>A | - | IntronicSNV | - | 12/18 |
2-188341047-G-A | TFPI | c.628+7804C>T | - | IntronicSNV | - | 6/7 |
6-41245172-C-A | TREM1 | c.600-1204G>T | - | IntronicSNV | - | 3/3 |
6-41245172-C-T | TREM1 | c.600-1204G>A | - | IntronicSNV | - | 3/3 |
6-41253327-G-C | TREM1 | c.49+1018C>G | - | IntronicSNV | - | 1/3 |
3-190290630-G-T | IL1RAP | c.64+8488G>T | - | IntronicSNV | - | 2/10 |
14-81600351-C-A | TSHR | c.693-5672C>A | - | IntronicSNV | - | 8/9 |
5-132425049-A-C | HSPA4 | c.1244+196A>C | - | IntronicSNV | - | 10/18 |
7-30716643-T-C | CRHR2 | c.310+4888A>G | - | IntronicSNV | - | 3/12 |
1-186816650-C-G | PLA2G4A | c.1-6837C>G | - | IntronicSNV | - | 1/17 |
13-113796138-G-C | F10 | c.502+774G>C | - | IntronicSNV | - | 5/7 |
13-113792170-T-A | F10 | c.232-601T>A | - | IntronicSNV | - | 2/7 |
14-81501957-T-G | TSHR | c.171-26535T>G | - | IntronicSNV | - | 1/9 |
14-81501957-T-C | TSHR | c.171-26535T>C | - | IntronicSNV | - | 1/9 |
7-30693775-C-T | CRHR2 | c.1177-559G>A | - | IntronicSNV | - | 12/12 |
1-12264355-A-G | TNFRSF1B | c.1105+2127A>G | - | IntronicSNV | - | 9/9 |
7-30716643-T-A | CRHR2 | c.310+4888A>T | - | IntronicSNV | - | 3/12 |
15-51625078-C-T | CYP19A1 | c.-39+5614G>A | - | intron_variant | - | 1/9 |
6-41247764-T-C | TREM1 | c.599+935A>G | - | IntronicSNV | - | 3/3 |
2-102791381-G-A | IL1R1 | c.1135+191G>A | - | IntronicSNV | - | 10/11 |
9-137654103-T-C | COL5A1 | c.1989+279T>C | - | IntronicSNV | - | 19/65 |
17-28554086-T-A | SLC6A4 | c.-220-4153A>T | - | intron_variant | - | 1/14 |
17-28554086-T-G | SLC6A4 | c.-220-4153A>C | - | intron_variant | - | 1/14 |
13-113800622-T-C | F10 | c.748-1071T>C | - | IntronicSNV | - | 6/7 |
12-102796522-G-C | IGF1 | c.403-178C>G | - | IntronicSNV | - | 3/3 |
1-11867044-T-C | CLCN6 | c.88-144T>C | - | IntronicSNV | - | 1/22 |
4-100268131-C-T | ADH1C | c.259+32G>A | - | IntronicSNV | - | 3/8 |
3-190293555-G-A | IL1RAP | c.64+11413G>A | - | IntronicSNV | - | 2/10 |
11-102707305-G-T | MMP3 | c.1334-348C>A | - | IntronicSNV | - | 9/9 |
7-94927495-G-A | PON1 | c.*761C>T | - | IntergenicSNV | 9/9 | - |
11-102707305-G-A | MMP3 | c.1334-348C>T | - | IntronicSNV | - | 9/9 |
3-190314720-C-T | IL1RAP | c.65-7197C>T | - | IntronicSNV | - | 2/10 |
3-190314720-C-A | IL1RAP | c.65-7197C>A | - | IntronicSNV | - | 2/10 |
1-78963437-G-A | PTGFR | c.798+4211G>A | - | IntronicSNV | - | 2/2 |
8-27396111-G-T | EPHX2 | c.1243-65G>T | - | IntronicSNV | - | 13/18 |
21-44483772-C-T | CBS | c.828+238G>A | - | IntronicSNV | - | 9/16 |
4-103478703-C-T | NFKB1 | c.259-9441C>T | - | IntronicSNV | - | 5/23 |
22-37538328-T-C | IL2RB | c.282+146A>G | - | IntronicSNV | - | 4/9 |
1-12240676-G-A | TNFRSF1B | c.79-8177G>A | - | IntronicSNV | - | 1/9 |
2-189845515-A-G | COL3A1 | c.80-3971A>G | - | IntronicSNV | - | 1/50 |
2-189845515-A-C | COL3A1 | c.80-3971A>C | - | IntronicSNV | - | 1/50 |
2-188412244-T-A | TFPI | c.-3+6683A>T | - | intron_variant | - | 1/7 |
8-27402494-C-T | EPHX2 | c.*455C>T | - | IntergenicSNV | 19/19 | - |
4-100232624-T-G | ADH1B | c.964+54A>C | - | IntronicSNV | - | 7/8 |
16-27331974-C-G | IL4R | c.-152+6633C>G | - | intron_variant | - | 1/10 |
3-190282714-T-G | IL1RAP | c.64+572T>G | - | IntronicSNV | - | 2/10 |
3-190282714-T-C | IL1RAP | c.64+572T>C | - | IntronicSNV | - | 2/10 |
14-81574283-T-C | TSHR | c.615-436T>C | - | IntronicSNV | - | 7/9 |
14-81574283-T-A | TSHR | c.615-436T>A | - | IntronicSNV | - | 7/9 |
13-113784998-G-A | F10 | c.231+1072G>A | - | IntronicSNV | - | 2/7 |
13-113763926-G-T | F7 | c.131-1078G>T | - | IntronicSNV | - | 2/8 |
13-113784998-G-T | F10 | c.231+1072G>T | - | IntronicSNV | - | 2/7 |
15-51557257-T-C | CYP19A1 | c.1-22148A>G | - | IntronicSNV | - | 1/9 |
9-137659688-C-A | COL5A1 | c.2232+488C>A | - | IntronicSNV | - | 24/65 |
14-81457583-T-C | TSHR | c.170+35389T>C | - | IntronicSNV | - | 1/9 |
5-7879950-G-A | MTRR | c.780+1515G>A | - | IntronicSNV | - | 5/14 |
7-95036992-C-T | PON2 | c.696-612G>A | - | IntronicSNV | - | 6/8 |
3-190296935-A-C | IL1RAP | c.64+14793A>C | - | IntronicSNV | - | 2/10 |
X-12889666-C-G | TLR7 | c.3+3966C>G | - | IntronicSNV | - | 2/2 |
7-94056099-A-G | COL1A2 | c.3106-221A>G | - | IntronicSNV | - | 46/51 |
3-190296935-A-G | IL1RAP | c.64+14793A>G | - | IntronicSNV | - | 2/10 |
11-100971940-A-C | PGR | c.1790-9333T>G | - | IntronicSNV | - | 2/7 |
21-34650791-A-G | IL10RB | c.332-1266A>G | - | IntronicSNV | - | 3/6 |
15-51519073-C-T | CYP19A1 | c.451+903G>A | - | IntronicSNV | - | 4/9 |
3-190333876-G-A | IL1RAP | c.538-4188G>A | - | IntronicSNV | - | 4/10 |
1-12264355-A-C | TNFRSF1B | c.1105+2127A>C | - | IntronicSNV | - | 9/9 |
5-142756004-A-G | NR3C1 | c.1184+23217T>C | - | IntronicSNV | - | 2/8 |
1-154415777-A-G | IL6R | c.950-4824A>G | - | IntronicSNV | - | 6/9 |
2-234672639-G-T | UGT1A1 | c.864+2842G>T | - | IntronicSNV | - | 1/4 |
7-95054340-T-C | PON2 | c.75-443A>G | - | IntronicSNV | - | 1/8 |
7-95054340-T-G | PON2 | c.75-443A>C | - | IntronicSNV | - | 1/8 |
15-51583939-A-G | CYP19A1 | c.-39+46753T>C | - | intron_variant | - | 1/9 |
6-43751359-C-T | VEGFA | c.1218-919C>T | - | IntronicSNV | - | 7/7 |
15-51623785-A-G | CYP19A1 | c.-39+6907T>C | - | intron_variant | - | 1/9 |
22-37525880-T-C | IL2RB | c.904-992A>G | - | IntronicSNV | - | 9/9 |
9-137702059-G-C | COL5A1 | c.3475-42G>C | - | IntronicSNV | - | 43/65 |
16-27354361-C-T | IL4R | c.209+781C>T | - | IntronicSNV | - | 4/10 |
17-28523726-G-T | SLC6A4 | c.*1748C>A | - | 3-UTRSNV | 15/15 | - |
14-81483897-G-A | TSHR | c.171-44595G>A | - | IntronicSNV | - | 1/9 |
11-112026703-A-G | IL18 | c.1-927T>C | - | IntronicSNV | - | 1/5 |
15-51551127-T-A | CYP19A1 | c.1-16018A>T | - | IntronicSNV | - | 1/9 |
5-142679397-C-T | NR3C1 | c.1747+653G>A | - | IntronicSNV | - | 5/8 |
13-33628989-A-G | KL | c.1331-195A>G | - | IntronicSNV | - | 2/4 |
9-137646511-C-T | COL5A1 | c.1827+339C>T | - | IntronicSNV | - | 16/65 |
11-102709425-A-G | MMP3 | c.1086T>C | p.Ala362Ala | Synonymous | 8/10 | - |
11-117872086-G-T | IL10RA | c.*1730G>T | - | 3-UTRSNV | 7/7 | - |
6-161161904-G-C | PLG | c.2019-439G>C | - | IntronicSNV | - | 16/18 |
16-55545346-A-T | LPCAT2 | c.171+2082A>T | - | IntronicSNV | - | 1/13 |
7-94052663-G-A | COL1A2 | c.2565+233G>A | - | IntronicSNV | - | 40/51 |
16-55545346-A-G | LPCAT2 | c.171+2082A>G | - | IntronicSNV | - | 1/13 |
7-94948841-C-A | PON1 | c.75-1136G>T | - | IntronicSNV | - | 1/8 |
4-142599222-C-T | IL15 | c.-501-10753C>T | - | intron_variant | - | 2/9 |
1-226035289-T-A | TMEM63A | c.2251-375A>T | - | IntronicSNV | - | 23/24 |
1-226035289-T-C | TMEM63A | c.2251-375A>G | - | IntronicSNV | - | 23/24 |
22-33220693-A-G | TIMP3 | c.121+22585A>G | - | IntronicSNV | - | 1/4 |
3-190294208-G-C | IL1RAP | c.64+12066G>C | - | IntronicSNV | - | 2/10 |
19-44162954-A-G | PLAUR | c.311-2162T>C | - | IntronicSNV | - | 3/6 |
2-188343497-T-C | TFPI | c.628+5354A>G | - | IntronicSNV | - | 6/7 |
3-190327521-G-A | IL1RAP | c.537+551G>A | - | IntronicSNV | - | 4/10 |
17-28525011-A-C | SLC6A4 | c.*463T>G | - | 3-UTRSNV | 15/15 | - |
22-33262935-T-C | SYN3 | c.619-1944A>G | - | IntronicSNV | - | 5/13 |
2-189862097-G-A | COL3A1 | c.1851G>A | p.Gln617Gln | Synonymous | 26/51 | - |
1-169547717-G-A | F5 | c.250+3952C>T | - | IntronicSNV | - | 2/24 |
1-186830092-G-A | PLA2G4A | c.33+6573G>A | - | IntronicSNV | - | 2/17 |
16-50756774-C-T | NOD2 | c.2798+158C>T | - | IntronicSNV | - | 8/11 |
11-101000501-A-G | PGR | c.1-700T>C | - | 5-UTRSNV | 1/8 | - |
6-44226195-T-C | NFKBIE | c.*761A>G | - | 3-UTRSNV | 6/6 | - |
16-55517162-A-G | MMP2 | c.230+115A>G | - | IntronicSNV | - | 2/12 |
13-113801737-C-T | F10 | c.792C>T | p.Thr264Thr | Synonymous | 7/8 | - |
13-113801737-C-A | F10 | c.792C>A | p.Thr264Thr | Synonymous | 7/8 | - |
2-189844000-A-G | COL3A1 | c.79+4706A>G | - | IntronicSNV | - | 1/50 |
11-102595413-C-T | MMP8 | c.102+72G>A | - | IntronicSNV | - | 1/9 |
X-12889666-C-T | TLR7 | c.3+3966C>T | - | IntronicSNV | - | 2/2 |
10-6103762-C-A | IL2RA | c.64+289G>T | - | IntronicSNV | - | 1/7 |
10-6103762-C-T | IL2RA | c.64+289G>A | - | IntronicSNV | - | 1/7 |
13-113780797-A-C | F10 | c.71-2969A>C | - | IntronicSNV | - | 1/7 |
2-102613581-A-C | IL1R2 | c.-62+5108A>C | - | intron_variant | - | 1/8 |
22-37532665-T-C | IL2RB | c.538-232A>G | - | IntronicSNV | - | 6/9 |
5-142767740-C-A | NR3C1 | c.1184+11481G>T | - | IntronicSNV | - | 2/8 |
1-154411419-A-C | IL6R | c.949+2833A>C | - | IntronicSNV | - | 6/9 |
1-78961585-T-C | PTGFR | c.798+2359T>C | - | IntronicSNV | - | 2/2 |
1-186850960-T-C | PLA2G4A | c.116-11183T>C | - | IntronicSNV | - | 3/17 |
14-81572939-T-C | TSHR | c.615-1780T>C | - | IntronicSNV | - | 7/9 |
5-132014832-G-A | IL4 | c.184-574G>A | - | IntronicSNV | - | 2/3 |
1-154438880-T-C | IL6R | c.*1024T>C | - | 3-UTRSNV | 10/10 | - |
2-188408848-C-T | TFPI | c.-3+10079G>A | - | intron_variant | - | 1/7 |
7-94033337-T-G | COL1A2 | c.280-531T>G | - | IntronicSNV | - | 6/51 |
2-189905397-C-T | COL5A2 | c.3633+915G>A | - | IntronicSNV | - | 50/53 |
2-189855943-G-A | COL3A1 | c.852+160G>A | - | IntronicSNV | - | 11/50 |
2-102639209-A-G | IL1R2 | c.751+498A>G | - | IntronicSNV | - | 6/8 |
17-61573761-T-C | ACE | c.3387T>C | p.Phe1129Phe | Synonymous | 23/25 | - |
16-27374927-T-G | IL4R | c.2254T>G | p.Ser752Ala | Missense | 11/11 | - |
X-12891960-A-G | TLR7 | c.3+6260A>G | - | IntronicSNV | - | 2/2 |
22-33224779-C-T | TIMP3 | c.122-20660C>T | - | IntronicSNV | - | 1/4 |
7-94030899-T-C | COL1A2 | c.246T>C | p.Asp82Asp | Synonymous | 6/52 | - |
4-187000256-C-T | TLR3 | c.633+71C>T | - | IntronicSNV | - | 3/4 |
5-76255756-G-C | CRHBP | c.693+1042G>C | - | IntronicSNV | - | 5/6 |
5-76255756-G-A | CRHBP | c.693+1042G>A | - | IntronicSNV | - | 5/6 |
4-100235053-A-T | ADH1B | c.753T>A | p.Ile251Ile | Synonymous | 6/9 | - |
22-33232158-A-C | TIMP3 | c.122-13281A>C | - | IntronicSNV | - | 1/4 |
4-100235053-A-G | ADH1B | c.753T>C | p.Ile251Ile | Synonymous | 6/9 | - |
22-33232158-A-T | TIMP3 | c.122-13281A>T | - | IntronicSNV | - | 1/4 |
14-35871093-C-T | NFKBIA | c.*126G>A | - | 3-UTRSNV | 6/6 | - |
16-55526487-G-A | MMP2 | c.1187-583G>A | - | IntronicSNV | - | 8/12 |
1-186872454-A-T | PLA2G4A | c.379-3643A>T | - | IntronicSNV | - | 5/17 |
13-113798884-C-T | F10 | c.747+475C>T | - | IntronicSNV | - | 6/7 |
17-48262775-A-C | COL1A1 | c.*88T>G | - | 3-UTRSNV | 51/51 | - |
16-55526487-G-C | MMP2 | c.1187-583G>C | - | IntronicSNV | - | 8/12 |
3-190338412-G-A | IL1RAP | c.703+183G>A | - | IntronicSNV | - | 5/10 |
1-78997461-G-A | PTGFR | c.799-4630G>A | - | IntronicSNV | - | 2/2 |
7-30709475-C-A | CRHR2 | c.311-2546G>T | - | IntronicSNV | - | 3/12 |
1-78999796-T-C | PTGFR | c.799-2295T>C | - | IntronicSNV | - | 2/2 |
7-30709475-C-G | CRHR2 | c.311-2546G>C | - | IntronicSNV | - | 3/12 |
4-123376135-G-A | IL2 | c.208-1127C>T | - | IntronicSNV | - | 2/3 |
16-55527682-A-G | MMP2 | c.1322+477A>G | - | IntronicSNV | - | 9/12 |
1-172630811-A-G | FASLG | c.394+1531A>G | - | IntronicSNV | - | 2/3 |
2-102610828-C-A | IL1R2 | c.-62+2355C>A | - | intron_variant | - | 1/8 |
2-102610828-C-T | IL1R2 | c.-62+2355C>T | - | intron_variant | - | 1/8 |
2-113888900-T-A | IL1RN | c.327+166T>A | - | IntronicSNV | - | 5/5 |
8-27367839-G-A | EPHX2 | c.661-1514G>A | - | IntronicSNV | - | 5/18 |
9-120480210-C-A | TLR4 | c.*3284C>A | - | IntergenicSNV | 3/3 | - |
16-27341059-A-G | IL4R | c.-151-328A>G | - | intron_variant | - | 1/10 |
1-169559035-C-T | SELP | c.*2-336G>A | - | intron_variant | - | 16/16 |
3-190285822-G-A | IL1RAP | c.64+3680G>A | - | IntronicSNV | - | 2/10 |
3-190325647-C-T | IL1RAP | c.351-1137C>T | - | IntronicSNV | - | 3/10 |
14-81442234-C-T | TSHR | c.170+20040C>T | - | IntronicSNV | - | 1/9 |
16-27341059-A-C | IL4R | c.-151-328A>C | - | intron_variant | - | 1/10 |
3-190343262-A-T | IL1RAP | c.776-1850A>T | - | IntronicSNV | - | 6/10 |
3-190343262-A-G | IL1RAP | c.776-1850A>G | - | IntronicSNV | - | 6/10 |
1-186828117-A-G | PLA2G4A | c.33+4598A>G | - | IntronicSNV | - | 2/17 |
16-50741462-A-C | NOD2 | c.541-304A>C | - | IntronicSNV | - | 2/11 |
2-234677659-C-T | UGT1A1 | c.1304+574C>T | - | IntronicSNV | - | 4/4 |
3-52264907-T-C | TWF2 | c.588A>G | p.Lys196Lys | Synonymous | 6/9 | - |
7-94056006-A-G | COL1A2 | c.3105+164A>G | - | IntronicSNV | - | 46/51 |
2-188388311-T-C | TFPI | c.1-19816A>G | - | IntronicSNV | - | 1/7 |
2-113591655-T-G | IL1B | c.100-503A>C | - | IntronicSNV | - | 3/6 |
7-95049073-A-G | PON2 | c.146-3464T>C | - | IntronicSNV | - | 2/8 |
2-113591655-T-A | IL1B | c.100-503A>T | - | IntronicSNV | - | 3/6 |
2-102616978-T-C | IL1R2 | c.1-8060T>C | - | IntronicSNV | - | 1/8 |
15-51546298-A-T | CYP19A1 | c.1-11189T>A | - | IntronicSNV | - | 1/9 |
16-50757276-G-A | NOD2 | c.2863G>A | p.Val955Ile | Missense | 9/12 | - |
9-125147920-G-T | PTGS1 | c.1010-805G>T | - | IntronicSNV | - | 8/10 |
1-162781787-T-C | HSD17B7 | c.904-301T>C | - | IntronicSNV | - | 8/8 |
1-169485859-T-A | F5 | c.6346-995A>T | - | IntronicSNV | - | 23/24 |
10-6077796-T-C | IL2RA | c.65-9808A>G | - | IntronicSNV | - | 1/7 |
9-125146111-G-A | PTGS1 | c.1009+77G>A | - | IntronicSNV | - | 8/10 |
5-142693846-A-G | NR3C1 | c.1185-113T>C | - | IntronicSNV | - | 2/8 |
22-33221939-G-A | TIMP3 | c.122-23500G>A | - | IntronicSNV | - | 1/4 |
15-51546298-A-G | CYP19A1 | c.1-11189T>C | - | IntronicSNV | - | 1/9 |
5-7875963-A-G | MTRR | c.401+475A>G | - | IntronicSNV | - | 4/14 |
16-50745199-C-T | NOD2 | c.1377C>T | p.Arg459Arg | Synonymous | 4/12 | - |
16-50745199-C-A | NOD2 | c.1377C>A | p.Arg459Arg | Synonymous | 4/12 | - |
13-33609924-T-G | KL | c.820-17980T>G | - | IntronicSNV | - | 1/4 |
1-154389196-A-T | IL6R | c.85+11006A>T | - | IntronicSNV | - | 1/9 |
3-190332654-C-T | IL1RAP | c.538-5410C>T | - | IntronicSNV | - | 4/10 |
22-33253280-T-A | TIMP3 | c.249T>A | p.His83Gln | Missense | 3/5 | - |
16-55518877-A-G | MMP2 | c.380-334A>G | - | IntronicSNV | - | 3/12 |
1-226020988-G-A | EPHX1 | c.364+1328G>A | - | IntronicSNV | - | 3/8 |
3-190305874-C-T | IL1RAP | c.65-16043C>T | - | IntronicSNV | - | 2/10 |
8-27381194-G-T | EPHX2 | c.1058+1169G>T | - | IntronicSNV | - | 11/18 |
8-27381194-G-C | EPHX2 | c.1058+1169G>C | - | IntronicSNV | - | 11/18 |
15-51539368-G-A | CYP19A1 | c.1-4259C>T | - | IntronicSNV | - | 1/9 |
15-51568204-A-G | CYP19A1 | c.1-33095T>C | - | IntronicSNV | - | 1/9 |
10-6098824-T-C | IL2RA | c.64+5227A>G | - | IntronicSNV | - | 1/7 |
11-117021759-T-A | PAFAH1B2 | c.1-1405T>A | - | IntronicSNV | - | 1/5 |
11-117021759-T-C | PAFAH1B2 | c.1-1405T>C | - | IntronicSNV | - | 1/5 |
21-44488395-G-T | CBS | c.316+224C>A | - | IntronicSNV | - | 4/16 |
2-102618370-A-G | IL1R2 | c.1-6668A>G | - | IntronicSNV | - | 1/8 |
1-95004084-A-C | F3 | c.212+1729T>G | - | IntronicSNV | - | 2/5 |
14-81604138-A-G | TSHR | c.693-1885A>G | - | IntronicSNV | - | 8/9 |
7-94058395-T-C | COL1A2 | c.3712-105T>C | - | IntronicSNV | - | 50/51 |
11-100969506-G-C | PGR | c.1790-6899C>G | - | IntronicSNV | - | 2/7 |
11-100969506-G-T | PGR | c.1790-6899C>A | - | IntronicSNV | - | 2/7 |
10-6087794-G-A | IL2RA | c.64+16257C>T | - | IntronicSNV | - | 1/7 |
21-44488395-G-A | CBS | c.316+224C>T | - | IntronicSNV | - | 4/16 |
2-188410351-G-T | TFPI | c.-3+8576C>A | - | intron_variant | - | 1/7 |
22-33196693-T-C | SYN3 | c.708+64209A>G | - | IntronicSNV | - | 6/13 |
X-12901960-G-T | TLR7 | c.4-1671G>T | - | IntronicSNV | - | 2/2 |
11-100923166-C-G | PGR | c.2213-867G>C | - | IntronicSNV | - | 4/7 |
3-190243717-G-T | IL1RAP | c.-2+11709G>T | - | intron_variant | - | 1/10 |
7-94046541-G-T | COL1A2 | c.1864-495G>T | - | IntronicSNV | - | 31/51 |
1-186649221-A-G | PTGS2 | c.52+150T>C | - | IntronicSNV | - | 1/9 |
6-43747577-T-G | VEGFA | c.963-892T>G | - | IntronicSNV | - | 5/7 |
1-186830420-C-T | PLA2G4A | c.33+6901C>T | - | IntronicSNV | - | 2/17 |
5-132018169-C-A | IL4 | c.361-9C>A | - | IntronicSNV | - | 3/3 |
2-102784833-A-G | IL1R1 | c.656-225A>G | - | IntronicSNV | - | 6/11 |
6-43747577-T-C | VEGFA | c.963-892T>C | - | IntronicSNV | - | 5/7 |
3-190237797-C-T | IL1RAP | c.-2+5789C>T | - | intron_variant | - | 1/10 |
1-11860120-T-C | MTHFR | c.586+149A>G | - | IntronicSNV | - | 4/11 |
1-186844926-C-T | PLA2G4A | c.115+5278C>T | - | IntronicSNV | - | 3/17 |
1-169538544-C-T | F5 | c.373+2915G>A | - | IntronicSNV | - | 3/24 |
1-95005856-A-G | F3 | c.169T>C | p.Trp57Arg | Missense | 2/6 | - |
1-169538544-C-A | F5 | c.373+2915G>T | - | IntronicSNV | - | 3/24 |
10-6063319-C-T | IL2RA | c.583+122G>A | - | IntronicSNV | - | 4/7 |
5-132012725-T-C | IL4 | c.183+2527T>C | - | IntronicSNV | - | 2/3 |
5-132012725-T-G | IL4 | c.183+2527T>G | - | IntronicSNV | - | 2/3 |
21-34652675-C-G | IL10RB | c.498+452C>G | - | IntronicSNV | - | 4/6 |
21-34652675-C-T | IL10RB | c.498+452C>T | - | IntronicSNV | - | 4/6 |
7-94934573-G-A | PON1 | c.780+1024C>T | - | IntronicSNV | - | 7/8 |
14-64888055-C-T | MTHFD1 | c.727+1412C>T | - | IntronicSNV | - | 8/27 |
17-2578648-G-T | PAFAH1B1 | c.900+1066G>T | - | IntronicSNV | - | 8/10 |
7-94043239-C-T | COL1A2 | c.1645C>T | p.Pro549Ser | Missense | 28/52 | - |
2-102788839-A-G | IL1R1 | c.840-308A>G | - | IntronicSNV | - | 8/11 |
3-190287209-T-A | IL1RAP | c.64+5067T>A | - | IntronicSNV | - | 2/10 |
3-190287209-T-C | IL1RAP | c.64+5067T>C | - | IntronicSNV | - | 2/10 |
7-94936129-A-G | PON1 | c.699-451T>C | - | IntronicSNV | - | 6/8 |
9-137701802-A-T | COL5A1 | c.3475-299A>T | - | IntronicSNV | - | 43/65 |
1-226036309-A-G | TMEM63A | c.2188-54T>C | - | IntronicSNV | - | 22/24 |
2-113879297-G-A | IL1RN | c.73+1592G>A | - | IntronicSNV | - | 2/5 |
22-33206863-G-T | TIMP3 | c.121+8755G>T | - | IntronicSNV | - | 1/4 |
17-61558229-A-G | ACE | c.848-223A>G | - | IntronicSNV | - | 5/24 |
7-94059236-G-A | COL1A2 | c.3955-323G>A | - | IntronicSNV | - | 51/51 |
X-12903480-A-G | TLR7 | c.4-151A>G | - | IntronicSNV | - | 2/2 |
17-2498049-A-G | PAFAH1B1 | c.-191+749A>G | - | intron_variant | - | 1/10 |
15-51558731-G-A | CYP19A1 | c.1-23622C>T | - | IntronicSNV | - | 1/9 |
X-12903480-A-T | TLR7 | c.4-151A>T | - | IntronicSNV | - | 2/2 |
1-169519112-C-T | F5 | c.1538G>A | p.Arg513Lys | Missense | 10/25 | - |
1-169488927-C-T | F5 | c.6193+831G>A | - | IntronicSNV | - | 22/24 |
1-78968341-A-G | PTGFR | c.798+9115A>G | - | IntronicSNV | - | 2/2 |
2-102642127-G-A | IL1R2 | c.888-446G>A | - | IntronicSNV | - | 7/8 |
14-81553786-A-G | TSHR | c.318-512A>G | - | IntronicSNV | - | 3/9 |
1-78976570-A-T | PTGFR | c.798+17344A>T | - | IntronicSNV | - | 2/2 |
1-78976570-A-G | PTGFR | c.798+17344A>G | - | IntronicSNV | - | 2/2 |
3-190275545-T-C | IL1RAP | c.1-6534T>C | - | IntronicSNV | - | 1/10 |
16-55522200-G-C | MMP2 | c.683-255G>C | - | IntronicSNV | - | 5/12 |
1-12261972-A-G | TNFRSF1B | c.901-52A>G | - | IntronicSNV | - | 8/9 |
1-186857236-G-T | PLA2G4A | c.116-4907G>T | - | IntronicSNV | - | 3/17 |
7-94949537-T-C | PON1 | c.75-1832A>G | - | IntronicSNV | - | 1/8 |
1-186873704-T-G | PLA2G4A | c.379-2393T>G | - | IntronicSNV | - | 5/17 |
1-186831728-C-G | PLA2G4A | c.34-7839C>G | - | IntronicSNV | - | 2/17 |
1-186831728-C-A | PLA2G4A | c.34-7839C>A | - | IntronicSNV | - | 2/17 |
16-27356667-T-G | IL4R | c.361+326T>G | - | IntronicSNV | - | 5/10 |
7-30704159-A-T | CRHR2 | c.624+527T>A | - | IntronicSNV | - | 6/12 |
12-6458274-G-C | SCNN1A | c.1497+56C>G | - | IntronicSNV | - | 10/12 |
12-6458274-G-A | SCNN1A | c.1497+56C>T | - | IntronicSNV | - | 10/12 |
1-11867044-T-A | CLCN6 | c.88-144T>A | - | IntronicSNV | - | 1/22 |
6-41246473-T-C | TREM1 | c.599+2226A>G | - | IntronicSNV | - | 3/3 |
3-190276995-G-T | IL1RAP | c.1-5084G>T | - | IntronicSNV | - | 1/10 |
6-41246473-T-A | TREM1 | c.599+2226A>T | - | IntronicSNV | - | 3/3 |
2-102610275-G-C | IL1R2 | c.-62+1802G>C | - | intron_variant | - | 1/8 |
22-33235517-C-T | TIMP3 | c.122-9922C>T | - | IntronicSNV | - | 1/4 |
2-189857993-T-C | COL3A1 | c.1051-94T>C | - | IntronicSNV | - | 15/50 |
3-190293505-A-G | IL1RAP | c.64+11363A>G | - | IntronicSNV | - | 2/10 |
2-102785799-C-T | IL1R1 | c.721+676C>T | - | IntronicSNV | - | 7/11 |
8-18077987-A-G | NAT1 | c.-7+989A>G | - | intron_variant | - | 2/2 |
1-95005856-A-C | F3 | c.169T>G | p.Trp57Gly | Missense | 2/6 | - |
14-81598912-T-C | TSHR | c.693-7111T>C | - | IntronicSNV | - | 8/9 |
1-95004410-T-C | F3 | c.212+1403A>G | - | IntronicSNV | - | 2/5 |
22-33263431-C-T | SYN3 | c.618+1522G>A | - | IntronicSNV | - | 5/13 |
7-94049356-T-A | COL1A2 | c.2080-189T>A | - | IntronicSNV | - | 34/51 |
7-94049356-T-C | COL1A2 | c.2080-189T>C | - | IntronicSNV | - | 34/51 |
5-138710576-G-T | SLC23A1 | c.1561+2515C>A | - | IntronicSNV | - | 13/14 |
1-209900615-G-C | HSD11B1 | c.518-5166G>C | - | IntronicSNV | - | 4/5 |
19-44163994-A-C | PLAUR | c.311-3202T>G | - | IntronicSNV | - | 3/6 |
1-12241991-G-A | TNFRSF1B | c.79-6862G>A | - | IntronicSNV | - | 1/9 |
2-102779719-A-G | IL1R1 | c.62-1515A>G | - | IntronicSNV | - | 3/11 |
2-102779719-A-T | IL1R1 | c.62-1515A>T | - | IntronicSNV | - | 3/11 |
7-94029982-C-T | COL1A2 | c.225+382C>T | - | IntronicSNV | - | 5/51 |
10-75672961-G-A | PLAU | c.369-87G>A | - | IntronicSNV | - | 5/10 |
5-76264982-T-C | CRHBP | c.*272T>C | - | 3-UTRSNV | 7/7 | - |
11-100924033-G-A | PGR | c.2213-1734C>T | - | IntronicSNV | - | 4/7 |
10-90757787-A-C | FAS | c.31-4999A>C | - | IntronicSNV | - | 1/8 |
14-81611128-T-C | TSHR | c.*431T>C | - | 3-UTRSNV | 10/10 | - |
4-142594719-T-C | IL15 | c.-501-15256T>C | - | intron_variant | - | 2/9 |
5-7880835-C-T | MTRR | c.780+2400C>T | - | IntronicSNV | - | 5/14 |
1-11867044-T-G | CLCN6 | c.88-144T>G | - | IntronicSNV | - | 1/22 |
16-55527891-G-A | MMP2 | c.1322+686G>A | - | IntronicSNV | - | 9/12 |
1-154437896-T-C | IL6R | c.*40T>C | - | 3-UTRSNV | 10/10 | - |
13-33628193-G-T | KL | c.1109G>T | p.Cys370Phe | Missense | 2/5 | - |
7-150700946-C-A | NOS3 | c.1752+1554C>A | - | IntronicSNV | - | 14/26 |
11-100926860-G-A | PGR | c.2213-4561C>T | - | IntronicSNV | - | 4/7 |
4-103534560-C-A | NFKB1 | c.2593-22C>A | - | IntronicSNV | - | 22/23 |
14-81573616-T-C | TSHR | c.615-1103T>C | - | IntronicSNV | - | 7/9 |
9-120480115-T-C | TLR4 | c.*3189T>C | - | IntergenicSNV | 3/3 | - |
7-94040816-G-T | COL1A2 | c.1350+350G>T | - | IntronicSNV | - | 23/51 |
11-117872086-G-A | IL10RA | c.*1730G>A | - | 3-UTRSNV | 7/7 | - |
4-142594719-T-A | IL15 | c.-501-15256T>A | - | intron_variant | - | 2/9 |
7-94040816-G-C | COL1A2 | c.1350+350G>C | - | IntronicSNV | - | 23/51 |
8-18074322-A-T | NAT1 | c.-85-2598A>T | - | intron_variant | - | 1/2 |
1-186952631-C-T | PLA2G4A | c.2118+4027C>T | - | IntronicSNV | - | 17/17 |
14-81554617-A-G | TSHR | c.392+245A>G | - | IntronicSNV | - | 4/9 |
7-95063000-C-T | PON2 | c.74+1190G>A | - | IntronicSNV | - | 1/8 |
2-113539972-G-A | IL1A | c.96+321C>T | - | IntronicSNV | - | 3/6 |
3-190330777-T-C | IL1RAP | c.537+3807T>C | - | IntronicSNV | - | 4/10 |
11-102592590-G-C | MMP8 | c.348-97C>G | - | IntronicSNV | - | 2/9 |
3-190330777-T-A | IL1RAP | c.537+3807T>A | - | IntronicSNV | - | 4/10 |
10-6087295-G-T | IL2RA | c.64+16756C>A | - | IntronicSNV | - | 1/7 |
17-2554201-A-G | PAFAH1B1 | c.32+12587A>G | - | IntronicSNV | - | 2/10 |
10-14901929-C-T | HSPA14 | c.993+3987C>T | - | IntronicSNV | - | 10/13 |
1-169548892-C-A | F5 | c.250+2777G>T | - | IntronicSNV | - | 2/24 |
15-51570853-G-A | CYP19A1 | c.1-35744C>T | - | IntronicSNV | - | 1/9 |
9-125155685-A-G | PTGS1 | c.*862A>G | - | 3-UTRSNV | 11/11 | - |
4-123373292-G-A | IL2 | c.352-275C>T | - | IntronicSNV | - | 3/3 |
10-90769998-T-C | FAS | c.444-298T>C | - | IntronicSNV | - | 4/8 |
22-33252041-A-G | TIMP3 | c.205-1195A>G | - | IntronicSNV | - | 2/4 |
9-137678020-T-C | COL5A1 | c.2646+126T>C | - | IntronicSNV | - | 31/65 |
22-33224439-C-T | TIMP3 | c.122-21000C>T | - | IntronicSNV | - | 1/4 |
2-102794282-G-A | IL1R1 | c.*1063G>A | - | 3-UTRSNV | 12/12 | - |
16-55544549-G-A | LPCAT2 | c.171+1285G>A | - | IntronicSNV | - | 1/13 |
21-44473446-A-G | CBS | c.*544T>C | - | 3-UTRSNV | 17/17 | - |
13-113793849-G-A | F10 | c.370+65G>A | - | IntronicSNV | - | 4/7 |
1-154430092-C-T | IL6R | c.1160+3035C>T | - | IntronicSNV | - | 9/9 |
4-103534560-C-G | NFKB1 | c.2593-22C>G | - | IntronicSNV | - | 22/23 |
10-6095410-A-T | IL2RA | c.64+8641T>A | - | IntronicSNV | - | 1/7 |
2-188351063-T-A | TFPI | c.359-1349A>T | - | IntronicSNV | - | 4/7 |
10-54529257-A-G | MBL2 | c.305-182T>C | - | IntronicSNV | - | 2/3 |
8-42055146-C-G | PLAT | c.1-4443G>C | - | IntronicSNV | - | 1/13 |
1-169523249-A-T | F5 | c.1118+1171T>A | - | IntronicSNV | - | 7/24 |
8-42055146-C-T | PLAT | c.1-4443G>A | - | IntronicSNV | - | 1/13 |
22-33228692-A-T | TIMP3 | c.122-16747A>T | - | IntronicSNV | - | 1/4 |
22-33228692-A-G | TIMP3 | c.122-16747A>G | - | IntronicSNV | - | 1/4 |
21-34666160-A-G | IL10RB | c.805-2329A>G | - | IntronicSNV | - | 6/6 |
11-112031624-A-G | IL18 | c.-9+3005T>C | - | intron_variant | - | 1/5 |
11-112031624-A-T | IL18 | c.-9+3005T>A | - | intron_variant | - | 1/5 |
13-113773159-G-C | F7 | c.1238G>C | p.Arg413Pro | Missense | 9/9 | - |
13-113773159-G-T | F7 | c.1238G>T | p.Arg413Leu | Missense | 9/9 | - |
9-139792926-T-C | TRAF2 | c.1-267T>C | - | IntronicSNV | - | 1/10 |
10-90774772-A-T | FAS | c.*565A>T | - | 3-UTRSNV | 9/9 | - |
4-142576023-A-G | IL15 | c.-623-1316A>G | - | intron_variant | - | 1/9 |
4-142570472-G-A | IL15 | c.-623-6867G>A | - | intron_variant | - | 1/9 |
8-27402777-G-A | EPHX2 | c.*738G>A | - | IntergenicSNV | 19/19 | - |
3-190350461-A-G | IL1RAP | c.1051+3174A>G | - | IntronicSNV | - | 8/10 |
17-32583269-T-C | CCL2 | c.105T>C | p.Cys35Cys | Synonymous | 2/3 | - |
11-100966638-T-A | PGR | c.1790-4031A>T | - | IntronicSNV | - | 2/7 |
2-102776518-G-A | IL1R1 | c.61+2273G>A | - | IntronicSNV | - | 3/11 |
2-102783052-G-A | IL1R1 | c.655+311G>A | - | IntronicSNV | - | 6/11 |
17-28549898-G-T | SLC6A4 | c.-185C>A | - | 5_prime_UTR_variant | 2/15 | - |
14-81551260-T-A | TSHR | c.318-3038T>A | - | IntronicSNV | - | 3/9 |
17-28549898-G-C | SLC6A4 | c.-185C>G | - | 5_prime_UTR_variant | 2/15 | - |
19-44163061-T-C | PLAUR | c.311-2269A>G | - | IntronicSNV | - | 3/6 |
10-6063253-A-G | IL2RA | c.583+188T>C | - | IntronicSNV | - | 4/7 |
13-33628193-G-C | KL | c.1109G>C | p.Cys370Ser | Missense | 2/5 | - |
5-79952034-A-C | MSH3 | c.238-196A>C | - | IntronicSNV | - | 1/23 |
6-161173946-T-G | PLG | c.2286T>G | p.Gly762Gly | Synonymous | 19/19 | - |
7-94033800-A-G | COL1A2 | c.280-68A>G | - | IntronicSNV | - | 6/51 |
12-6435753-G-A | PLEKHG6 | c.1670+14G>A | - | IntronicSNV | - | 14/15 |
11-100948110-C-G | PGR | c.1906+14381G>C | - | IntronicSNV | - | 3/7 |
2-102794603-A-G | IL1R1 | c.*1384A>G | - | 3-UTRSNV | 12/12 | - |
6-31777946-C-T | HSPA1L | c.1804G>A | p.Glu602Lys | Missense | 2/2 | - |
21-34660001-C-T | IL10RB | c.647-408C>T | - | IntronicSNV | - | 5/6 |
2-234681645-G-C | UGT1A1 | c.*440G>C | - | 3-UTRSNV | 5/5 | - |
11-100961182-G-A | PGR | c.1906+1309C>T | - | IntronicSNV | - | 3/7 |
1-169481950-G-A | F5 | c.*1601C>T | - | 3-UTRSNV | 25/25 | - |
11-100961182-G-T | PGR | c.1906+1309C>A | - | IntronicSNV | - | 3/7 |
19-44162233-A-G | PLAUR | c.311-1441T>C | - | IntronicSNV | - | 3/6 |
1-12267999-C-T | TNFRSF1B | c.*922C>T | - | 3-UTRSNV | 10/10 | - |
2-190023960-A-G | COL5A2 | c.97+20274T>C | - | IntronicSNV | - | 1/53 |
1-186947224-G-C | PLA2G4A | c.1960+304G>C | - | IntronicSNV | - | 16/17 |
1-11852300-C-G | MTHFR | c.1632+35G>C | - | IntronicSNV | - | 10/11 |
7-95061921-A-G | PON2 | c.74+2269T>C | - | IntronicSNV | - | 1/8 |
1-12249031-A-G | TNFRSF1B | c.178+79A>G | - | IntronicSNV | - | 2/9 |
16-27373915-G-T | IL4R | c.1242G>T | p.Leu414Leu | Synonymous | 11/11 | - |
4-100228945-T-C | ADH1B | c.*52A>G | - | 3-UTRSNV | 9/9 | - |
1-226024797-T-C | EPHX1 | c.365-1558T>C | - | IntronicSNV | - | 3/8 |
5-142720726-T-C | NR3C1 | c.1185-26993A>G | - | IntronicSNV | - | 2/8 |
15-51606578-T-C | CYP19A1 | c.-39+24114A>G | - | intron_variant | - | 1/9 |
15-51530097-T-C | CYP19A1 | c.146-891A>G | - | IntronicSNV | - | 2/9 |
14-81424118-T-G | TSHR | c.170+1924T>G | - | IntronicSNV | - | 1/9 |
9-125151884-T-A | PTGS1 | c.1297-593T>A | - | IntronicSNV | - | 9/10 |
22-33254283-T-A | TIMP3 | c.438+158T>A | - | IntronicSNV | - | 4/4 |
10-6084025-G-A | IL2RA | c.65-16037C>T | - | IntronicSNV | - | 1/7 |
1-169541513-C-T | F5 | c.319G>A | p.Asp107Asn | Missense | 3/25 | - |
1-154380784-T-C | IL6R | c.85+2594T>C | - | IntronicSNV | - | 1/9 |
16-27375787-A-G | IL4R | c.*636A>G | - | 3-UTRSNV | 11/11 | - |
22-37539128-C-T | IL2RB | c.203+433G>A | - | IntronicSNV | - | 3/9 |
22-33244421-A-T | TIMP3 | c.122-1018A>T | - | IntronicSNV | - | 1/4 |
7-94925614-C-T | PPP1R9A | c.*5999C>T | - | 3-UTRSNV | 20/20 | - |
22-33210005-C-T | TIMP3 | c.121+11897C>T | - | IntronicSNV | - | 1/4 |
14-81498066-C-T | TSHR | c.171-30426C>T | - | IntronicSNV | - | 1/9 |
7-94925614-C-A | PPP1R9A | c.*5999C>A | - | 3-UTRSNV | 20/20 | - |
8-18068074-A-G | NAT1 | c.-86+385A>G | - | intron_variant | - | 1/2 |
8-18068074-A-T | NAT1 | c.-86+385A>T | - | intron_variant | - | 1/2 |
17-48267291-G-C | COL1A1 | c.2560-18C>G | - | IntronicSNV | - | 36/50 |
17-48267291-G-T | COL1A1 | c.2560-18C>A | - | IntronicSNV | - | 36/50 |
17-48267291-G-A | COL1A1 | c.2560-18C>T | - | IntronicSNV | - | 36/50 |
6-42884750-A-C | PTCRA | c.58+885A>C | - | IntronicSNV | - | 1/3 |
3-190309603-A-C | IL1RAP | c.65-12314A>C | - | IntronicSNV | - | 2/10 |
15-51536141-T-G | CYP19A1 | c.1-1032A>C | - | IntronicSNV | - | 1/9 |
3-190309603-A-T | IL1RAP | c.65-12314A>T | - | IntronicSNV | - | 2/10 |
19-39387829-T-G | SIRT2 | c.-49+2317A>C | - | intron_variant | - | 1/12 |
1-236987790-G-T | MTR | c.865+271G>T | - | IntronicSNV | - | 9/32 |
7-95054257-T-C | PON2 | c.75-360A>G | - | IntronicSNV | - | 1/8 |
7-95054257-T-A | PON2 | c.75-360A>T | - | IntronicSNV | - | 1/8 |
7-94025924-A-G | COL1A2 | c.71-1136A>G | - | IntronicSNV | - | 1/51 |
16-55519607-C-T | MMP2 | c.600C>T | p.Thr200Thr | Synonymous | 5/13 | - |
9-125144423-G-T | PTGS1 | c.762+397G>T | - | IntronicSNV | - | 7/10 |
1-186873230-C-T | PLA2G4A | c.379-2867C>T | - | IntronicSNV | - | 5/17 |
9-125144423-G-C | PTGS1 | c.762+397G>C | - | IntronicSNV | - | 7/10 |
2-234672722-T-A | UGT1A1 | c.864+2925T>A | - | IntronicSNV | - | 1/4 |
22-33251033-G-A | TIMP3 | c.205-2203G>A | - | IntronicSNV | - | 2/4 |
1-12240824-T-C | TNFRSF1B | c.79-8029T>C | - | IntronicSNV | - | 1/9 |
7-95034821-A-G | PON2 | c.907-21T>C | - | IntronicSNV | - | 8/8 |
10-90755056-T-A | FAS | c.30+4393T>A | - | IntronicSNV | - | 1/8 |
2-102622376-A-G | IL1R2 | c.1-2662A>G | - | IntronicSNV | - | 1/8 |
22-39062194-T-C | CBY1 | c.1-1866T>C | - | IntronicSNV | - | 1/4 |
22-39062194-T-G | CBY1 | c.1-1866T>G | - | IntronicSNV | - | 1/4 |
7-95034821-A-T | PON2 | c.907-21T>A | - | IntronicSNV | - | 8/8 |
7-100774749-A-G | SERPINE1 | c.506-407A>G | - | IntronicSNV | - | 3/8 |
4-129195334-C-A | PGRMC2 | c.419-1662G>T | - | intron_variant | - | 1/2 |
8-18075906-T-A | NAT1 | c.1-3651T>A | - | IntronicSNV | - | 1/2 |
1-169521849-T-C | F5 | c.1242A>G | p.Lys414Lys | Synonymous | 8/25 | - |
4-129195334-C-T | PGRMC2 | c.419-1662G>A | - | intron_variant | - | 1/2 |
5-76027823-A-T | F2R | c.89-316A>T | - | IntronicSNV | - | 1/1 |
9-120478032-C-T | TLR4 | c.*1106C>T | - | 3-UTRSNV | 3/3 | - |
5-76027823-A-C | F2R | c.89-316A>C | - | IntronicSNV | - | 1/1 |
13-33592193-C-A | KL | c.819+796C>A | - | IntronicSNV | - | 1/4 |
8-27402132-T-C | EPHX2 | c.*93T>C | - | 3-UTRSNV | 19/19 | - |
16-27371949-A-G | IL4R | c.850-138A>G | - | IntronicSNV | - | 9/10 |
1-186848093-G-A | PLA2G4A | c.115+8445G>A | - | IntronicSNV | - | 3/17 |
13-113792390-G-C | F10 | c.232-381G>C | - | IntronicSNV | - | 2/7 |
6-43742527-G-A | VEGFA | c.658+398G>A | - | IntronicSNV | - | 2/7 |
3-190354246-A-T | IL1RAP | c.1051+6959A>T | - | IntronicSNV | - | 8/10 |
4-103537442-C-T | NFKB1 | c.2750-149C>T | - | IntronicSNV | - | 23/23 |
14-81497393-T-C | TSHR | c.171-31099T>C | - | IntronicSNV | - | 1/9 |
3-190294208-G-T | IL1RAP | c.64+12066G>T | - | IntronicSNV | - | 2/10 |
2-102788125-G-T | IL1R1 | c.722-136G>T | - | IntronicSNV | - | 7/11 |
8-27381996-C-G | EPHX2 | c.1059-883C>G | - | IntronicSNV | - | 11/18 |
13-33612839-G-T | KL | c.820-15065G>T | - | IntronicSNV | - | 1/4 |
10-6055604-C-A | IL2RA | c.795-745G>T | - | IntronicSNV | - | 7/7 |
2-189998339-C-G | COL5A2 | c.98-23164G>C | - | IntronicSNV | - | 1/53 |
10-6055604-C-T | IL2RA | c.795-745G>A | - | IntronicSNV | - | 7/7 |
2-189998339-C-T | COL5A2 | c.98-23164G>A | - | IntronicSNV | - | 1/53 |
10-90761865-T-A | FAS | c.31-921T>A | - | IntronicSNV | - | 1/8 |
14-81575454-T-C | TSHR | c.692+658T>C | - | IntronicSNV | - | 8/9 |
7-94040133-T-A | COL1A2 | c.1198-68T>A | - | IntronicSNV | - | 21/51 |
16-55520060-G-A | MMP2 | c.682+371G>A | - | IntronicSNV | - | 5/12 |
4-123373897-G-A | IL2 | c.352-880C>T | - | IntronicSNV | - | 3/3 |
16-27367334-C-T | IL4R | c.770+106C>T | - | IntronicSNV | - | 8/10 |
7-94036547-C-T | COL1A2 | c.595-612C>T | - | IntronicSNV | - | 12/51 |
17-2561297-T-C | PAFAH1B1 | c.33-7369T>C | - | IntronicSNV | - | 2/10 |
22-37525731-A-G | IL2RB | c.904-843T>C | - | IntronicSNV | - | 9/9 |
7-30707302-G-T | CRHR2 | c.311-373C>A | - | IntronicSNV | - | 3/12 |
17-48269903-A-G | COL1A1 | c.1930-14T>C | - | IntronicSNV | - | 28/50 |
19-39399277-C-T | NFKBIB | c.970-94C>T | - | IntronicSNV | - | 5/5 |
17-2577177-A-T | PAFAH1B1 | c.672-177A>T | - | IntronicSNV | - | 7/10 |
X-12894442-G-C | TLR7 | c.3+8742G>C | - | IntronicSNV | - | 2/2 |
X-12894442-G-T | TLR7 | c.3+8742G>T | - | IntronicSNV | - | 2/2 |
X-12894442-G-A | TLR7 | c.3+8742G>A | - | IntronicSNV | - | 2/2 |
3-190281376-C-A | IL1RAP | c.1-703C>A | - | IntronicSNV | - | 1/10 |
3-190281376-C-T | IL1RAP | c.1-703C>T | - | IntronicSNV | - | 1/10 |
8-27396208-G-A | EPHX2 | c.1275G>A | p.Ala425Ala | Synonymous | 14/19 | - |
11-100905056-C-T | PGR | c.*4791G>A | - | 3-UTRSNV | 8/8 | - |
22-37542201-G-A | IL2RB | c.1-1989C>T | - | IntronicSNV | - | 1/9 |
1-159683099-G-T | CRP | c.*216C>A | - | 3-UTRSNV | 2/2 | - |
6-161160644-G-T | PLG | c.2018+404G>T | - | IntronicSNV | - | 16/18 |
3-190347732-T-C | IL1RAP | c.1051+445T>C | - | IntronicSNV | - | 8/10 |
1-186913827-A-C | PLA2G4A | c.1034-1942A>C | - | IntronicSNV | - | 10/17 |
2-189960329-A-G | COL5A2 | c.456+1674T>C | - | IntronicSNV | - | 6/53 |
6-161126323-C-T | PLG | c.50-1116C>T | - | IntronicSNV | - | 1/18 |
6-161126323-C-A | PLG | c.50-1116C>A | - | IntronicSNV | - | 1/18 |
8-27400604-C-T | EPHX2 | c.1450-662C>T | - | IntronicSNV | - | 16/18 |
13-33615948-T-G | KL | c.820-11956T>G | - | IntronicSNV | - | 1/4 |
10-104157711-T-A | NFKB2 | c.662-27T>A | - | IntronicSNV | - | 8/22 |
4-154631587-C-G | RNF175 | c.921G>C | p.Leu307Phe | Missense | 9/9 | - |
2-189841613-A-G | COL3A1 | c.79+2319A>G | - | IntronicSNV | - | 1/50 |
1-186816650-C-A | PLA2G4A | c.1-6837C>A | - | IntronicSNV | - | 1/17 |
15-51613811-T-C | CYP19A1 | c.-39+16881A>G | - | intron_variant | - | 1/9 |
22-33240290-A-G | TIMP3 | c.122-5149A>G | - | IntronicSNV | - | 1/4 |
6-161170835-A-G | PLG | c.2126-2312A>G | - | IntronicSNV | - | 17/18 |
9-137704058-T-C | COL5A1 | c.3691-237T>C | - | IntronicSNV | - | 46/65 |
14-81468954-G-A | TSHR | c.170+46760G>A | - | IntronicSNV | - | 1/9 |
14-81468954-G-C | TSHR | c.170+46760G>C | - | IntronicSNV | - | 1/9 |
15-51572260-G-T | CYP19A1 | c.1-37151C>A | - | IntronicSNV | - | 1/9 |
2-102624786-C-T | IL1R2 | c.1-252C>T | - | IntronicSNV | - | 1/8 |
15-51572260-G-C | CYP19A1 | c.1-37151C>G | - | IntronicSNV | - | 1/9 |
15-51572260-G-A | CYP19A1 | c.1-37151C>T | - | IntronicSNV | - | 1/9 |
14-64887711-G-A | MTHFD1 | c.727+1068G>A | - | IntronicSNV | - | 8/27 |
4-103443569-G-A | NFKB1 | c.1-3107G>A | - | IntronicSNV | - | 1/23 |
7-45957055-G-C | IGFBP3 | c.422-17C>G | - | IntronicSNV | - | 1/4 |
8-18257280-C-T | NAT2 | c.1-234C>T | - | IntronicSNV | - | 1/1 |
15-51569410-A-G | CYP19A1 | c.1-34301T>C | - | IntronicSNV | - | 1/9 |
22-33193050-G-T | SYN3 | c.708+67852C>A | - | IntronicSNV | - | 6/13 |
15-51599205-C-G | CYP19A1 | c.-39+31487G>C | - | intron_variant | - | 1/9 |
22-33193050-G-A | SYN3 | c.708+67852C>T | - | IntronicSNV | - | 6/13 |
4-142647323-C-T | IL15 | c.115-1770C>T | - | IntronicSNV | - | 7/9 |
15-51592543-C-T | CYP19A1 | c.-39+38149G>A | - | intron_variant | - | 1/9 |
22-37533068-C-T | IL2RB | c.537+559G>A | - | IntronicSNV | - | 6/9 |
16-55534236-G-A | MMP2 | c.1619+1876G>A | - | IntronicSNV | - | 11/12 |
15-51592543-C-A | CYP19A1 | c.-39+38149G>T | - | intron_variant | - | 1/9 |
14-81442055-T-C | TSHR | c.170+19861T>C | - | IntronicSNV | - | 1/9 |
6-41244567-C-G | TREM1 | c.600-599G>C | - | IntronicSNV | - | 3/3 |
11-100917610-G-T | PGR | c.2488+3050C>A | - | IntronicSNV | - | 6/7 |
22-33254629-G-A | TIMP3 | c.438+504G>A | - | IntronicSNV | - | 4/4 |
11-100917610-G-C | PGR | c.2488+3050C>G | - | IntronicSNV | - | 6/7 |
4-103515591-G-C | NFKB1 | c.1211-458G>C | - | IntronicSNV | - | 12/23 |
3-190361497-G-T | IL1RAP | c.1052-540G>T | - | IntronicSNV | - | 8/10 |
X-12887416-G-T | TLR7 | c.3+1716G>T | - | IntronicSNV | - | 2/2 |
14-81449363-G-A | TSHR | c.170+27169G>A | - | IntronicSNV | - | 1/9 |
3-190361497-G-A | IL1RAP | c.1052-540G>A | - | IntronicSNV | - | 8/10 |
12-6433289-C-T | PLEKHG6 | c.1525-2305C>T | - | IntronicSNV | - | 13/15 |
1-186846598-C-A | PLA2G4A | c.115+6950C>A | - | IntronicSNV | - | 3/17 |
1-186846598-C-T | PLA2G4A | c.115+6950C>T | - | IntronicSNV | - | 3/17 |
17-2563261-T-C | PAFAH1B1 | c.33-5405T>C | - | IntronicSNV | - | 2/10 |
1-11857788-G-A | MTHFR | c.587-1332C>T | - | IntronicSNV | - | 4/11 |
3-190338659-A-C | IL1RAP | c.703+430A>C | - | IntronicSNV | - | 5/10 |
1-172632957-A-T | FASLG | c.395-517A>T | - | IntronicSNV | - | 2/3 |
1-154432420-T-C | IL6R | c.1161-5190T>C | - | IntronicSNV | - | 9/9 |
14-81611606-C-T | TSHR | c.*909C>T | - | 3-UTRSNV | 10/10 | - |
5-79950781-A-G | DHFR | c.1-473T>C | - | 5-UTRSNV | 1/6 | - |
5-79950781-A-T | DHFR | c.1-473T>A | - | 5-UTRSNV | 1/6 | - |
1-11862214-T-C | MTHFR | c.236+724A>G | - | IntronicSNV | - | 2/11 |
9-120481856-G-T | TLR4 | c.*4930G>T | - | IntergenicSNV | 3/3 | - |
6-161136294-G-A | PLG | c.668+348G>A | - | IntronicSNV | - | 6/18 |
2-188331704-C-T | TFPI | c.874G>A | p.Val292Met | Missense | 8/8 | - |
2-102627122-C-T | IL1R2 | c.332+834C>T | - | IntronicSNV | - | 3/8 |
1-159684186-T-A | CRP | c.61+29A>T | - | IntronicSNV | - | 1/1 |
1-159684186-T-C | CRP | c.61+29A>G | - | IntronicSNV | - | 1/1 |
10-6078079-C-A | IL2RA | c.65-10091G>T | - | IntronicSNV | - | 1/7 |
8-18074322-A-G | NAT1 | c.-85-2598A>G | - | intron_variant | - | 1/2 |
19-44163781-A-T | PLAUR | c.311-2989T>A | - | IntronicSNV | - | 3/6 |
7-30717043-G-A | CRHR2 | c.310+4488C>T | - | IntronicSNV | - | 3/12 |
1-154437896-T-A | IL6R | c.*40T>A | - | 3-UTRSNV | 10/10 | - |
1-154418879-C-T | IL6R | c.950-1722C>T | - | IntronicSNV | - | 6/9 |
10-6063674-T-A | IL2RA | c.368-18A>T | - | IntronicSNV | - | 3/7 |
10-6063674-T-C | IL2RA | c.368-18A>G | - | IntronicSNV | - | 3/7 |
7-94949801-G-A | PON1 | c.75-2096C>T | - | IntronicSNV | - | 1/8 |
4-103444698-C-T | NFKB1 | c.1-1978C>T | - | IntronicSNV | - | 1/23 |