Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-117618713-G-T | DSCAML1 | c.511+28793C>A | - | intron_variant | - | 3/32 |
2-136310803-G-C | R3HDM1 | c.-250+21600G>C | - | intron_variant | - | 1/25 |
2-135096302-C-T | MGAT5 | c.807+311C>T | - | IntronicSNV | - | 6/15 |
1-218495048-C-T | RRP15 | c.706-9242C>T | - | IntronicSNV | - | 4/4 |
5-14750800-G-A | ANKH | c.687+378C>T | - | IntronicSNV | - | 5/11 |
10-135221772-G-T | MTG1 | c.752+5495G>T | - | IntronicSNV | - | 9/10 |
10-135221772-G-A | MTG1 | c.752+5495G>A | - | IntronicSNV | - | 9/10 |
5-137892170-G-A | HSPA9 | c.1933C>T | p.Leu645Leu | Synonymous | 16/17 | - |
5-169321575-A-G | DOCK2 | c.2799+53719A>G | - | IntronicSNV | - | 27/51 |
2-136539513-G-A | UBXN4 | c.1389-806G>A | - | IntronicSNV | - | 12/12 |
2-136539513-G-C | UBXN4 | c.1389-806G>C | - | IntronicSNV | - | 12/12 |
3-4849222-G-A | ITPR1 | c.7083+1271G>A | - | IntronicSNV | - | 51/57 |
2-115946323-A-T | DPP10 | c.61-120492A>T | - | IntronicSNV | - | 1/25 |
2-135204008-A-C | MGAT5 | c.2028-2212A>C | - | IntronicSNV | - | 15/15 |
2-136575199-G-A | LCT | c.1419C>T | p.Gly473Gly | Synonymous | 6/17 | - |
2-136288273-C-T | ZRANB3 | c.-8+424G>A | - | intron_variant | - | 1/20 |
2-136575199-G-T | LCT | c.1419C>A | p.Gly473Gly | Synonymous | 6/17 | - |
2-205994800-T-C | PARD3B | c.1434+4339T>C | - | IntronicSNV | - | 10/21 |
2-135419163-A-T | TMEM163 | c.322+51607T>A | - | IntronicSNV | - | 2/7 |
2-135430709-G-A | TMEM163 | c.322+40061C>T | - | IntronicSNV | - | 2/7 |
7-139670417-T-C | TBXAS1 | c.1134+8385T>C | - | intron_variant | - | 9/12 |
7-42070252-T-G | GLI3 | c.1029-4241A>C | - | IntronicSNV | - | 7/14 |
20-939161-A-G | RSPO4 | c.*1839T>C | - | 3-UTRSNV | 5/5 | - |
4-140614711-G-A | MGST2 | c.159-1640G>A | - | IntronicSNV | - | 2/4 |
3-4849222-G-C | ITPR1 | c.7083+1271G>C | - | IntronicSNV | - | 51/57 |
3-191932318-T-G | FGF12 | c.415-43873A>C | - | IntronicSNV | - | 3/4 |
8-141541288-C-T | AGO2 | c.*855G>A | - | 3-UTRSNV | 19/19 | - |
8-73795460-A-G | KCNB2 | c.580-52710A>G | - | IntronicSNV | - | 2/2 |
9-16656653-T-C | BNC2 | c.327+71142A>G | - | intron_variant | - | 2/5 |
2-135077707-G-T | MGAT5 | c.573+1397G>T | - | IntronicSNV | - | 4/15 |
2-136715324-T-G | DARS | c.320+3642A>C | - | IntronicSNV | - | 4/15 |
2-136715324-T-C | DARS | c.320+3642A>G | - | IntronicSNV | - | 4/15 |
2-9659610-T-A | ADAM17 | c.958-1234A>T | - | IntronicSNV | - | 8/18 |
4-148832250-C-T | ARHGAP10 | c.1162+1322C>T | - | IntronicSNV | - | 12/22 |
12-56722830-C-T | PAN2 | c.283-405G>A | - | IntronicSNV | - | 2/25 |
2-136229598-G-T | ZRANB3 | c.161+32301C>A | - | IntronicSNV | - | 2/20 |
2-175297360-G-A | GPR155 | c.*3484C>T | - | 3-UTRSNV | 16/16 | - |
11-62269774-G-A | AHNAK | c.343-10471C>T | - | IntronicSNV | - | 4/5 |
2-136616754-C-T | MCM6 | c.1362+117G>A | - | IntronicSNV | - | 9/16 |
2-136226626-C-T | ZRANB3 | c.161+35273G>A | - | IntronicSNV | - | 2/20 |
2-135426782-A-T | TMEM163 | c.322+43988T>A | - | IntronicSNV | - | 2/7 |
2-135426782-A-G | TMEM163 | c.322+43988T>C | - | IntronicSNV | - | 2/7 |
4-140800045-G-A | MAML3 | c.2079+10466C>T | - | IntronicSNV | - | 2/4 |
16-75360734-C-T | CFDP1 | c.651-21654G>A | - | IntronicSNV | - | 5/6 |
4-173723986-C-T | GALNTL6 | c.554-6526C>T | - | IntronicSNV | - | 5/12 |
2-15627561-C-T | NBAS | c.1083+1457G>A | - | IntronicSNV | - | 12/51 |
2-136100243-G-T | ZRANB3 | c.677+2877C>A | - | IntronicSNV | - | 6/20 |
15-42528676-C-T | TMEM87A | c.869-59G>A | - | IntronicSNV | - | 9/19 |
15-42528676-C-G | TMEM87A | c.869-59G>C | - | IntronicSNV | - | 9/19 |
15-42528676-C-A | TMEM87A | c.869-59G>T | - | IntronicSNV | - | 9/19 |
5-14693030-A-G | OTULIN | c.932A>G | p.Asn311Ser | Missense | 7/7 | - |
18-25576002-C-G | CDH2 | c.1021-2401G>C | - | IntronicSNV | - | 7/15 |
7-78777397-T-C | MAGI2 | c.302-140875A>G | - | IntronicSNV | - | 1/21 |
4-89319296-T-C | HERC6 | c.1027T>C | p.Phe343Leu | Missense | 8/22 | - |
4-89319296-T-G | HERC6 | c.1027T>G | p.Phe343Val | Missense | 8/22 | - |
8-10548858-T-G | C8orf74 | c.242-6251T>G | - | IntronicSNV | - | 2/3 |
13-28614361-G-A | FLT3 | c.1206-2936C>T | - | IntronicSNV | - | 9/23 |
2-163129208-C-T | IFIH1 | c.2455-311G>A | - | IntronicSNV | - | 12/15 |
5-131994669-C-T | IL13 | c.175-441C>T | - | IntronicSNV | - | 1/3 |
2-136590746-C-T | LCT | c.655G>A | p.Val219Ile | Missense | 2/17 | - |
2-136608643-G-C | MCM6 | c.1917+329C>G | - | IntronicSNV | - | 13/16 |
7-99355975-T-C | CYP3A4 | c.1414-124A>G | - | IntronicSNV | - | 12/12 |
2-136229598-G-A | ZRANB3 | c.161+32301C>T | - | IntronicSNV | - | 2/20 |
22-33048925-C-A | SYN3 | c.709-56203G>T | - | IntronicSNV | - | 6/13 |
2-136420690-A-T | R3HDM1 | c.2047+1727A>T | - | IntronicSNV | - | 18/25 |
2-136420690-A-G | R3HDM1 | c.2047+1727A>G | - | IntronicSNV | - | 18/25 |
2-136555659-T-C | LCT | c.4916A>G | p.Asn1639Ser | Missense | 13/17 | - |
11-117610387-G-A | DSCAML1 | c.511+37119C>T | - | intron_variant | - | 3/32 |
11-92705844-T-G | MTNR1B | c.223+2730T>G | - | IntronicSNV | - | 1/1 |
2-136169799-T-C | ZRANB3 | c.162-21409A>G | - | IntronicSNV | - | 2/20 |
2-135902172-C-A | RAB3GAP1 | c.1924-5767C>A | - | IntronicSNV | - | 17/23 |
2-135902172-C-T | RAB3GAP1 | c.1924-5767C>T | - | IntronicSNV | - | 17/23 |
6-32976927-A-G | HLA-DOA | c.82+305T>C | - | IntronicSNV | - | 1/4 |
2-136366433-A-G | R3HDM1 | c.171+3847A>G | - | IntronicSNV | - | 3/25 |
4-31123849-G-A | PCDH7 | c.3368-20246G>A | - | IntronicSNV | - | 2/2 |
4-25820615-C-T | SEL1L3 | c.1424-715G>A | - | IntronicSNV | - | 8/23 |
7-99325882-C-T | CYP3A7 | c.165+2800G>A | - | IntronicSNV | - | 2/12 |
2-136571982-T-A | LCT | c.1708-1456A>T | - | IntronicSNV | - | 6/16 |
2-136571982-T-C | LCT | c.1708-1456A>G | - | IntronicSNV | - | 6/16 |
6-51720838-T-C | PKHD1 | c.7764A>G | p.Leu2588Leu | Synonymous | 49/67 | - |
3-194152728-G-C | ATP13A3 | c.2246-107C>G | - | IntronicSNV | - | 20/31 |
3-194152728-G-A | ATP13A3 | c.2246-107C>T | - | IntronicSNV | - | 20/31 |
2-136147948-G-C | ZRANB3 | c.180+424C>G | - | IntronicSNV | - | 3/20 |
2-136169799-T-A | ZRANB3 | c.162-21409A>T | - | IntronicSNV | - | 2/20 |
4-159454279-A-G | RXFP1 | c.49+11102A>G | - | IntronicSNV | - | 1/17 |
2-136516970-G-A | UBXN4 | c.509-2418G>A | - | IntronicSNV | - | 5/12 |
2-135907088-A-G | RAB3GAP1 | c.1924-851A>G | - | IntronicSNV | - | 17/23 |
3-111502126-C-T | PLCXD2 | c.867-62542C>T | - | IntronicSNV | - | 3/3 |
7-42072483-G-A | GLI3 | c.1029-6472C>T | - | IntronicSNV | - | 7/14 |
6-109863238-A-C | AK9 | c.3350+12T>G | - | IntronicSNV | - | 27/40 |
2-203425475-C-T | BMPR2 | c.*806C>T | - | 3-UTRSNV | 13/13 | - |
6-51738982-G-A | PKHD1 | c.7351-3545C>T | - | IntronicSNV | - | 46/66 |
20-8402859-A-G | PLCB1 | c.246+50762A>G | - | IntronicSNV | - | 3/31 |
2-136337874-C-T | R3HDM1 | c.-249-22196C>T | - | intron_variant | - | 1/25 |
11-117620420-T-C | DSCAML1 | c.511+27086A>G | - | intron_variant | - | 3/32 |
2-205997457-A-G | PARD3B | c.1434+6996A>G | - | IntronicSNV | - | 10/21 |
7-99053816-G-A | CPSF4 | c.667-239G>A | - | IntronicSNV | - | 7/7 |
7-42066881-A-G | GLI3 | c.1029-870T>C | - | IntronicSNV | - | 7/14 |
2-136561735-G-A | LCT | c.4465-37C>T | - | IntronicSNV | - | 10/16 |
1-240076608-A-G | CHRM3 | c.*4084A>G | - | IntergenicSNV | 5/5 | - |
17-19288274-T-G | MFAP4 | c.520+138A>C | - | IntronicSNV | - | 5/5 |
9-129979758-G-A | RALGPS1 | c.1645-1261G>A | - | IntronicSNV | - | 18/18 |
1-240076608-A-T | CHRM3 | c.*4084A>T | - | IntergenicSNV | 5/5 | - |
3-191966701-C-T | FGF12 | c.415-78256G>A | - | IntronicSNV | - | 3/4 |
5-169262575-A-G | DOCK2 | c.2704-5186A>G | - | IntronicSNV | - | 26/51 |
14-61961410-G-C | PRKCH | c.1433+9036G>C | - | IntronicSNV | - | 10/13 |
2-135885357-C-T | RAB3GAP1 | c.973+1131C>T | - | IntronicSNV | - | 11/23 |
2-169821098-A-G | ABCB11 | c.2076-280T>C | - | IntronicSNV | - | 17/27 |
2-198001443-C-T | ANKRD44 | c.191-57G>A | - | IntronicSNV | - | 3/9 |
2-200154449-G-A | SATB2 | c.1741-17054C>T | - | IntronicSNV | - | 11/11 |
3-191945126-G-A | FGF12 | c.415-56681C>T | - | IntronicSNV | - | 3/4 |
1-12306734-T-G | VPS13D | c.447+2060T>G | - | IntronicSNV | - | 5/69 |
11-128585924-G-A | FLI1 | c.18+21753G>A | - | IntronicSNV | - | 1/8 |
1-53234874-A-G | ZYG11B | c.197-1818A>G | - | IntronicSNV | - | 2/13 |
5-32588433-C-T | SUB1 | c.1-186C>T | - | IntronicSNV | - | 1/4 |
6-33710038-T-C | IP6K3 | c.-180+4497A>G | - | intron_variant | - | 1/5 |
4-148827747-A-G | ARHGAP10 | c.1035-42A>G | - | IntronicSNV | - | 10/22 |
4-148827747-A-C | ARHGAP10 | c.1035-42A>C | - | IntronicSNV | - | 10/22 |
12-109569068-A-G | ACACB | c.1-8143A>G | - | IntergenicSNV | - | 1/52 |
12-130193038-C-T | TMEM132D | c.80-7795G>A | - | IntronicSNV | - | 1/8 |
3-111428766-A-G | PLCXD2 | c.624+1533A>G | - | IntronicSNV | - | 2/3 |
9-130147606-G-A | GARNL3 | c.2388+182G>A | - | IntronicSNV | - | 24/27 |
1-74842787-G-A | FPGT-TNNI3K | c.2114+6711G>A | - | IntronicSNV | - | 19/26 |
2-136608651-A-G | MCM6 | c.1917+321T>C | - | IntronicSNV | - | 13/16 |
2-136406109-T-C | R3HDM1 | c.1623+3012T>C | - | IntronicSNV | - | 16/25 |
2-135691659-A-G | CCNT2 | c.241-2752A>G | - | IntronicSNV | - | 2/8 |
2-136046601-T-C | ZRANB3 | c.967-13276A>G | - | IntronicSNV | - | 8/20 |
19-3976321-T-G | EEF2 | c.*231A>C | - | 3-UTRSNV | 15/15 | - |
2-135981554-A-G | ZRANB3 | c.2250+442T>C | - | IntronicSNV | - | 15/20 |
3-185795333-T-C | ETV5 | c.650+2273A>G | - | IntronicSNV | - | 7/12 |
2-135829309-G-A | RAB3GAP1 | c.150+13653G>A | - | IntronicSNV | - | 3/23 |
2-122273073-G-A | CLASP1 | c.644+168C>T | - | IntronicSNV | - | 7/39 |
13-110419404-C-T | IRS2 | c.4013-10749G>A | - | IntronicSNV | - | 1/1 |
6-69938177-G-C | ADGRB3 | c.2481-5005G>C | - | IntronicSNV | - | 17/31 |
18-66714832-G-A | CCDC102B | c.1435-6435G>A | - | IntronicSNV | - | 7/7 |
2-135880643-A-G | RAB3GAP1 | c.749-1092A>G | - | IntronicSNV | - | 8/23 |
2-135077185-A-G | MGAT5 | c.573+875A>G | - | IntronicSNV | - | 4/15 |
22-23614436-G-A | BCR | c.1921+657G>A | - | IntronicSNV | - | 6/22 |
6-110051141-T-A | FIG4 | c.446+2673T>A | - | IntronicSNV | - | 4/22 |
6-110051141-T-G | FIG4 | c.446+2673T>G | - | IntronicSNV | - | 4/22 |
6-109965474-G-T | AK9 | c.834+343C>A | - | IntronicSNV | - | 9/40 |
18-66717718-A-C | CCDC102B | c.1435-3549A>C | - | IntronicSNV | - | 7/7 |
15-72846354-G-A | ARIH1 | c.589-1258G>A | - | IntronicSNV | - | 3/13 |
20-7894061-G-A | HAO1 | c.545+750C>T | - | IntronicSNV | - | 3/7 |
2-136575887-C-T | LCT | c.987-256G>A | - | IntronicSNV | - | 5/16 |
2-136575887-C-A | LCT | c.987-256G>T | - | IntronicSNV | - | 5/16 |
22-35815485-C-T | MCM5 | c.1704-392C>T | - | IntronicSNV | - | 13/16 |
5-115891789-T-A | SEMA6A | c.-39+18092A>T | - | intron_variant | - | 1/18 |
2-136445869-G-A | R3HDM1 | c.2354+7975G>A | - | IntronicSNV | - | 20/25 |
14-78043929-G-C | SPTLC2 | c.483-671C>G | - | IntronicSNV | - | 3/11 |
4-148445429-A-T | EDNRA | c.421-11600A>T | - | IntronicSNV | - | 2/5 |
6-151225565-G-A | MTHFD1L | c.781-1221G>A | - | IntronicSNV | - | 7/27 |
7-24966446-C-A | OSBPL3 | c.1-34355G>T | - | IntronicSNV | - | 1/22 |
14-32328830-C-T | NUBPL | c.*444C>T | - | 3-UTRSNV | 11/11 | - |
9-108050418-C-G | SLC44A1 | c.37-11083C>G | - | IntronicSNV | - | 1/15 |
9-91154126-A-G | NXNL2 | c.302+3475A>G | - | IntronicSNV | - | 1/2 |
16-50759547-A-T | NOD2 | c.2966+64A>T | - | IntronicSNV | - | 10/11 |
17-38335870-C-T | RAPGEFL1 | c.517+1237C>T | - | intron_variant | - | 2/15 |
1-161811555-T-C | ATF6 | c.1188-4684T>C | - | IntronicSNV | - | 9/15 |
6-51746280-A-C | PKHD1 | c.7350+1611T>G | - | IntronicSNV | - | 46/66 |
20-964652-T-C | RSPO4 | c.80-15871A>G | - | IntronicSNV | - | 1/4 |
5-169260680-C-T | DOCK2 | c.2704-7081C>T | - | IntronicSNV | - | 26/51 |
6-109997143-G-A | AK9 | c.1-195C>T | - | IntronicSNV | - | 1/40 |
2-101591443-A-C | NPAS2 | c.1282+37A>C | - | IntronicSNV | - | 13/20 |
1-59249360-TG-TGTG | JUN | c.1-619_1-618dup | - | 5-UTRInsertion | 1/1 | - |
2-136556182-T-C | LCT | c.4867-474A>G | - | IntronicSNV | - | 12/16 |
6-51746280-A-G | PKHD1 | c.7350+1611T>C | - | IntronicSNV | - | 46/66 |
2-135890608-G-C | RAB3GAP1 | c.1326+54G>C | - | IntronicSNV | - | 14/23 |
10-135224960-A-G | MTG1 | c.753-8024A>G | - | IntronicSNV | - | 9/10 |
2-136097394-C-T | ZRANB3 | c.677+5726G>A | - | IntronicSNV | - | 6/20 |
1-182766498-G-T | NPL | c.68+2924G>T | - | IntronicSNV | - | 3/12 |
2-136061560-G-T | ZRANB3 | c.966+9499C>A | - | IntronicSNV | - | 8/20 |
2-163137983-T-C | IFIH1 | c.1379A>G | p.His460Arg | Missense | 7/16 | - |
2-134116853-G-T | NCKAP5 | c.70-56171C>A | - | IntronicSNV | - | 3/17 |
2-134116853-G-A | NCKAP5 | c.70-56171C>T | - | IntronicSNV | - | 3/17 |
12-56743367-T-C | STAT2 | c.1257+6A>G | - | IntronicSNV | - | 14/23 |
5-115901872-T-A | SEMA6A | c.-39+8009A>T | - | intron_variant | - | 1/18 |
2-203569287-T-C | FAM117B | c.753+8532T>C | - | IntronicSNV | - | 2/7 |
2-133731788-T-G | NCKAP5 | c.430-10346A>C | - | IntronicSNV | - | 7/17 |
5-132012725-T-G | IL4 | c.183+2527T>G | - | IntronicSNV | - | 2/3 |
17-73550047-A-T | LLGL2 | c.76-2080A>T | - | IntronicSNV | - | 2/24 |
11-117610854-G-C | DSCAML1 | c.511+36652C>G | - | intron_variant | - | 3/32 |
2-136107286-T-C | ZRANB3 | c.591+268A>G | - | IntronicSNV | - | 5/20 |
5-132012725-T-C | IL4 | c.183+2527T>C | - | IntronicSNV | - | 2/3 |
2-135872646-C-A | RAB3GAP1 | c.483-140C>A | - | IntronicSNV | - | 6/23 |
1-53264486-A-T | ZYG11B | c.1485+2030A>T | - | IntronicSNV | - | 8/13 |
2-136608651-A-C | MCM6 | c.1917+321T>G | - | IntronicSNV | - | 13/16 |
17-38500914-T-C | RARA | c.179-3654T>C | - | IntronicSNV | - | 2/8 |
2-136203038-A-C | ZRANB3 | c.162-54648T>G | - | IntronicSNV | - | 2/20 |
2-136630170-A-G | MCM6 | c.254+97T>C | - | IntronicSNV | - | 2/16 |
5-137876920-G-A | ETF1 | c.86+1602C>T | - | IntronicSNV | - | 2/10 |
2-136733897-T-C | DARS | c.217+2947A>G | - | IntronicSNV | - | 3/15 |
2-135469769-A-G | TMEM163 | c.322+1001T>C | - | IntronicSNV | - | 2/7 |
6-109945747-T-G | AK9 | c.1255-5308A>C | - | IntronicSNV | - | 12/40 |
2-136197702-T-C | ZRANB3 | c.162-49312A>G | - | IntronicSNV | - | 2/20 |
1-197413628-C-T | CRB1 | c.4005+2206C>T | - | IntronicSNV | - | 11/11 |
13-28614361-G-T | FLT3 | c.1206-2936C>A | - | IntronicSNV | - | 9/23 |
2-136407445-A-G | R3HDM1 | c.1624-1858A>G | - | IntronicSNV | - | 16/25 |
17-70692820-A-C | SLC39A11 | c.692+39969T>G | - | IntronicSNV | - | 7/9 |
2-136242667-C-T | ZRANB3 | c.161+19232G>A | - | IntronicSNV | - | 2/20 |
15-28425771-G-C | HERC2 | c.8938-1402C>G | - | IntronicSNV | - | 57/92 |
7-42035623-T-C | GLI3 | c.1498-17276A>G | - | IntronicSNV | - | 10/14 |
9-35364353-G-A | UNC13B | c.1168-2591G>A | - | IntronicSNV | - | 10/38 |
2-135965002-A-G | ZRANB3 | c.3009+2T>C | - | IntronicSNV | - | 19/20 |
2-136447707-T-C | R3HDM1 | c.2354+9813T>C | - | IntronicSNV | - | 20/25 |
17-73540855-T-G | LLGL2 | c.75+1273T>G | - | IntronicSNV | - | 2/24 |
13-45784263-T-G | GTF2F2 | c.386+2623T>G | - | IntronicSNV | - | 5/7 |
2-136667301-T-C | DARS | c.1414+1408A>G | - | IntronicSNV | - | 15/15 |
7-42078947-A-C | GLI3 | c.1028+690T>G | - | IntronicSNV | - | 7/14 |
2-163143424-T-C | IFIH1 | c.1095+1221A>G | - | IntronicSNV | - | 5/15 |
5-137863134-A-C | ETF1 | c.87-8578T>G | - | IntronicSNV | - | 2/10 |
7-107613379-G-A | LAMB1 | c.1562+58C>T | - | IntronicSNV | - | 13/33 |
1-53225363-A-G | ZYG11B | c.196+3068A>G | - | IntronicSNV | - | 2/13 |
5-132109742-G-A | SEPT8 | c.30+3058C>T | - | IntronicSNV | - | 1/9 |
12-56601739-G-T | RNF41 | c.499-206C>A | - | IntronicSNV | - | 5/6 |
2-136680534-A-G | DARS | c.677-46T>C | - | IntronicSNV | - | 8/15 |
3-140695993-T-G | SLC25A36 | c.*698T>G | - | 3-UTRSNV | 7/7 | - |
3-140695993-T-A | SLC25A36 | c.*698T>A | - | 3-UTRSNV | 7/7 | - |
15-75081078-G-A | CSK | c.-66+6017G>A | - | intron_variant | - | 1/12 |
3-179741099-T-C | PEX5L | c.21+13268A>G | - | IntronicSNV | - | 1/14 |
11-19908729-C-A | NAV2 | c.771-5251C>A | - | IntronicSNV | - | 5/37 |
11-19908729-C-G | NAV2 | c.771-5251C>G | - | IntronicSNV | - | 5/37 |
2-136408291-C-T | R3HDM1 | c.1624-1012C>T | - | IntronicSNV | - | 16/25 |
21-16399980-G-A | NRIP1 | c.-457-13193C>T | - | intron_variant | - | 2/3 |
18-8205596-T-G | PTPRM | c.2301-38460T>G | - | IntronicSNV | - | 14/32 |
22-23626081-G-C | BCR | c.2116-83G>C | - | IntronicSNV | - | 8/22 |
22-23626081-G-A | BCR | c.2116-83G>A | - | IntronicSNV | - | 8/22 |
11-20931291-C-T | NELL1 | c.604-8437C>T | - | IntronicSNV | - | 5/19 |
5-32596846-G-A | SUB1 | c.196-2221G>A | - | IntronicSNV | - | 3/4 |
2-97489870-C-T | CNNM3 | c.1226-925C>T | - | IntronicSNV | - | 1/7 |
2-136128254-A-G | ZRANB3 | c.181-17056T>C | - | IntronicSNV | - | 3/20 |
2-136189475-G-T | ZRANB3 | c.162-41085C>A | - | IntronicSNV | - | 2/20 |
9-129970439-A-C | RALGPS1 | c.1248-3971A>C | - | IntronicSNV | - | 14/18 |
4-148764252-G-A | ARHGAP10 | c.313-4050G>A | - | IntronicSNV | - | 3/22 |
2-136409574-A-C | R3HDM1 | c.1895A>C | p.Gln632Pro | Missense | 17/26 | - |
2-136409574-A-G | R3HDM1 | c.1895A>G | p.Gln632Arg | Missense | 17/26 | - |
3-8797095-T-C | OXTR | c.923-2185A>G | - | IntronicSNV | - | 3/3 |
2-136609746-A-G | MCM6 | c.1755+611T>C | - | IntronicSNV | - | 12/16 |
1-161811555-T-G | ATF6 | c.1188-4684T>G | - | IntronicSNV | - | 9/15 |
2-175289144-C-A | SCRN3 | c.918-59C>A | - | IntronicSNV | - | 6/7 |
12-56722060-T-G | PAN2 | c.535A>C | p.Ile179Leu | Missense | 4/26 | - |
2-136630170-A-C | MCM6 | c.254+97T>G | - | IntronicSNV | - | 2/16 |
5-14748236-C-T | ANKH | c.822+1045G>A | - | IntronicSNV | - | 6/11 |
2-136555525-T-G | LCT | c.4976+74A>C | - | IntronicSNV | - | 13/16 |
2-136555525-T-A | LCT | c.4976+74A>T | - | IntronicSNV | - | 13/16 |
2-136631545-G-C | MCM6 | c.108-1132C>G | - | IntronicSNV | - | 1/16 |
7-42036345-G-A | GLI3 | c.1498-17998C>T | - | IntronicSNV | - | 10/14 |
7-42036345-G-C | GLI3 | c.1498-17998C>G | - | IntronicSNV | - | 10/14 |
6-109879241-G-T | AK9 | c.2751+5559C>A | - | IntronicSNV | - | 24/40 |
2-135912977-G-T | RAB3GAP1 | c.2289+1531G>T | - | IntronicSNV | - | 19/23 |
9-127287329-G-A | NR6A1 | c.1190-177C>T | - | IntronicSNV | - | 8/9 |
1-103400314-T-A | COL11A1 | c.3145-202A>T | - | IntronicSNV | - | 43/64 |
1-182771711-G-T | NPL | c.69-1122G>T | - | IntronicSNV | - | 3/12 |
1-182771711-G-A | NPL | c.69-1122G>A | - | IntronicSNV | - | 3/12 |
2-135912977-G-A | RAB3GAP1 | c.2289+1531G>A | - | IntronicSNV | - | 19/23 |
2-135218605-A-G | TMEM163 | c.668-2861T>C | - | IntronicSNV | - | 6/7 |
6-33753673-G-C | LEMD2 | c.777+838C>G | - | IntronicSNV | - | 2/8 |
16-76521236-T-G | CNTNAP4 | c.1880-2347T>G | - | intron_variant | - | 13/24 |
6-33753673-G-A | LEMD2 | c.777+838C>T | - | IntronicSNV | - | 2/8 |
9-123677625-G-A | TRAF1 | c.229-1047C>T | - | IntronicSNV | - | 3/7 |
5-137905448-T-A | HSPA9 | c.411-710A>T | - | IntronicSNV | - | 4/16 |
5-137905448-T-G | HSPA9 | c.411-710A>C | - | IntronicSNV | - | 4/16 |
2-136282110-T-G | ZRANB3 | c.-8+6587A>C | - | intron_variant | - | 1/20 |
14-61745417-A-G | TMEM30B | c.*1393T>C | - | 3-UTRSNV | 1/1 | - |
3-191935121-G-T | FGF12 | c.415-46676C>A | - | IntronicSNV | - | 3/4 |
2-136117271-A-G | ZRANB3 | c.181-6073T>C | - | IntronicSNV | - | 3/20 |
5-14697914-C-T | OTULIN | c.*4757C>T | - | 3-UTRSNV | 7/7 | - |
2-136156753-C-A | ZRANB3 | c.162-8363G>T | - | IntronicSNV | - | 2/20 |
15-75044238-G-A | CYP1A2 | c.1042+43G>A | - | IntronicSNV | - | 4/6 |
12-101993580-C-T | MYBPC1 | c.25+4707C>T | - | IntronicSNV | - | 1/29 |
12-101993580-C-A | MYBPC1 | c.25+4707C>A | - | IntronicSNV | - | 1/29 |
5-169279780-T-C | DOCK2 | c.2799+11924T>C | - | IntronicSNV | - | 27/51 |
11-8129296-C-A | RIC3 | c.*2949G>T | - | 3-UTRSNV | 6/6 | - |
11-8129296-C-G | RIC3 | c.*2949G>C | - | 3-UTRSNV | 6/6 | - |
8-17236582-A-G | MTMR7 | c.25-5833T>C | - | IntronicSNV | - | 1/13 |
2-136436317-T-C | R3HDM1 | c.2203-1426T>C | - | IntronicSNV | - | 19/25 |
2-136677192-T-C | DARS | c.959+831A>G | - | IntronicSNV | - | 10/15 |
1-85308524-T-G | LPAR3 | c.736+22544A>C | - | IntronicSNV | - | 2/2 |
18-33736180-A-G | ELP2 | c.1276-249A>G | - | IntronicSNV | - | 12/21 |
3-191987899-C-T | FGF12 | c.414+65251G>A | - | IntronicSNV | - | 3/4 |
1-53288239-A-G | ZYG11B | c.*938A>G | - | 3-UTRSNV | 14/14 | - |
19-1391235-G-A | NDUFS7 | c.455+71G>A | - | IntronicSNV | - | 6/7 |
2-163148411-A-C | IFIH1 | c.874+1663T>G | - | IntronicSNV | - | 4/15 |
11-117610387-G-C | DSCAML1 | c.511+37119C>G | - | intron_variant | - | 3/32 |
14-30177166-T-C | PRKD1 | c.403+17576A>G | - | IntronicSNV | - | 2/17 |
12-71523134-A-C | TSPAN8 | c.637T>G | p.Ser213Ala | Missense | 8/9 | - |
4-39586775-T-A | SMIM14 | c.76-12692A>T | - | IntronicSNV | - | 2/4 |
4-39586775-T-G | SMIM14 | c.76-12692A>C | - | IntronicSNV | - | 2/4 |
2-135111439-C-T | MGAT5 | c.1246+3930C>T | - | IntronicSNV | - | 9/15 |
12-70934961-C-T | PTPRB | c.5495-224G>A | - | IntronicSNV | - | 22/33 |
22-23614008-A-T | BCR | c.1921+229A>T | - | IntronicSNV | - | 6/22 |
5-115904410-A-G | SEMA6A | c.-39+5471T>C | - | intron_variant | - | 1/18 |
9-123677625-G-C | TRAF1 | c.229-1047C>G | - | IntronicSNV | - | 3/7 |
2-135902172-C-G | RAB3GAP1 | c.1924-5767C>G | - | IntronicSNV | - | 17/23 |
5-32130401-C-A | GOLPH3 | c.473-3659G>T | - | IntronicSNV | - | 3/3 |
2-233926201-G-A | INPP5D | c.134+879G>A | - | IntronicSNV | - | 1/27 |
3-3123326-A-G | IL5RA | c.995-5015T>C | - | IntronicSNV | - | 10/12 |
14-30180340-C-T | PRKD1 | c.403+14402G>A | - | IntronicSNV | - | 2/17 |
2-136159683-A-C | ZRANB3 | c.162-11293T>G | - | IntronicSNV | - | 2/20 |
5-32592736-A-G | SUB1 | c.195+945A>G | - | IntronicSNV | - | 3/4 |
2-136464965-C-T | R3HDM1 | c.2355-2038C>T | - | IntronicSNV | - | 20/25 |
7-42040158-A-T | GLI3 | c.1498-21811T>A | - | IntronicSNV | - | 10/14 |
2-86350664-A-G | PTCD3 | c.655-160A>G | - | IntronicSNV | - | 8/23 |
2-69251810-A-G | ANTXR1 | c.152+11027A>G | - | IntronicSNV | - | 1/17 |
2-135209142-G-A | MGAT5 | c.*2724G>A | - | 3-UTRSNV | 16/16 | - |
2-135205984-G-T | MGAT5 | c.2028-236G>T | - | IntronicSNV | - | 15/15 |
2-136464965-C-G | R3HDM1 | c.2355-2038C>G | - | IntronicSNV | - | 20/25 |
7-42040158-A-G | GLI3 | c.1498-21811T>C | - | IntronicSNV | - | 10/14 |
2-135290453-G-C | TMEM163 | c.458+17688C>G | - | IntronicSNV | - | 4/7 |
1-161741274-T-C | ATF6 | c.82+5042T>C | - | IntronicSNV | - | 1/15 |
2-136285317-T-G | ZRANB3 | c.-8+3380A>C | - | intron_variant | - | 1/20 |
3-12346911-C-T | PPARG | c.-3+17392C>T | - | intron_variant | - | 1/6 |
3-11041808-C-T | SLC6A1 | c.-216+7193C>T | - | intron_variant | - | 1/15 |
18-66718841-A-G | CCDC102B | c.1435-2426A>G | - | IntronicSNV | - | 7/7 |
2-135114889-A-G | MGAT5 | c.1247-4957A>G | - | IntronicSNV | - | 9/15 |
5-90426633-A-G | ADGRV1 | c.18433-19214A>G | - | IntronicSNV | - | 87/89 |
2-136268788-A-C | ZRANB3 | c.1-6729T>G | - | IntronicSNV | - | 1/20 |
1-241375666-C-T | RGS7 | c.79-113604G>A | - | IntronicSNV | - | 2/17 |
6-131987353-A-G | ENPP3 | c.563-5035A>G | - | IntronicSNV | - | 6/24 |
5-137854924-T-C | ETF1 | c.87-368A>G | - | IntronicSNV | - | 2/10 |
12-130187283-T-C | TMEM132D | c.80-2040A>G | - | IntronicSNV | - | 1/8 |
14-81493693-G-A | TSHR | c.171-34799G>A | - | IntronicSNV | - | 1/9 |
2-135466520-G-A | TMEM163 | c.322+4250C>T | - | IntronicSNV | - | 2/7 |
6-76588562-C-T | MYO6 | c.2078-975C>T | - | IntronicSNV | - | 20/34 |
3-191933006-T-C | FGF12 | c.415-44561A>G | - | IntronicSNV | - | 3/4 |
4-148810260-A-G | ARHGAP10 | c.1034+7177A>G | - | IntronicSNV | - | 10/22 |
12-15560196-A-G | PTPRO | c.76-76712A>G | - | IntronicSNV | - | 1/25 |
22-33048338-T-C | SYN3 | c.709-55616A>G | - | IntronicSNV | - | 6/13 |
8-17236582-A-C | MTMR7 | c.25-5833T>G | - | IntronicSNV | - | 1/13 |
2-136707480-A-G | DARS | c.321-6430T>C | - | IntronicSNV | - | 4/15 |
2-101579811-C-G | NPAS2 | c.599-709C>G | - | IntronicSNV | - | 7/20 |
8-141541881-C-T | AGO2 | c.*262G>A | - | 3-UTRSNV | 19/19 | - |
2-136531252-C-T | UBXN4 | c.950+1135C>T | - | IntronicSNV | - | 9/12 |
2-197122493-T-A | HECW2 | c.3419+54A>T | - | IntronicSNV | - | 18/28 |
2-136531252-C-A | UBXN4 | c.950+1135C>A | - | IntronicSNV | - | 9/12 |
3-122738307-A-G | SEMA5B | c.-39+8004T>C | - | intron_variant | - | 1/22 |
18-6022693-A-C | L3MBTL4 | c.1471+24034T>G | - | IntronicSNV | - | 17/19 |
6-109953266-G-T | AK9 | c.1254+860C>A | - | IntronicSNV | - | 12/40 |
2-136112123-A-G | ZRANB3 | c.181-925T>C | - | IntronicSNV | - | 3/20 |
11-8122234-G-A | TUB | c.1380+86G>A | - | IntronicSNV | - | 11/12 |
7-99325882-C-A | CYP3A7 | c.165+2800G>T | - | IntronicSNV | - | 2/12 |
2-136303450-G-A | R3HDM1 | c.-250+14247G>A | - | intron_variant | - | 1/25 |
2-135401339-T-C | TMEM163 | c.322+69431A>G | - | IntronicSNV | - | 2/7 |
6-109953266-G-A | AK9 | c.1254+860C>T | - | IntronicSNV | - | 12/40 |
2-136129791-A-G | ZRANB3 | c.180+18581T>C | - | IntronicSNV | - | 3/20 |
2-136472107-A-G | R3HDM1 | c.2632-1013A>G | - | IntronicSNV | - | 22/25 |
2-135888078-G-T | RAB3GAP1 | c.1067-44G>T | - | IntronicSNV | - | 12/23 |
5-136983954-G-A | KLHL3 | c.808-8288C>T | - | IntronicSNV | - | 8/14 |
2-200157595-T-G | SATB2 | c.1740+15888A>C | - | IntronicSNV | - | 11/11 |
5-106878464-A-G | EFNA5 | c.126-115254T>C | - | IntronicSNV | - | 1/4 |
2-136296989-G-T | R3HDM1 | c.-250+7786G>T | - | intron_variant | - | 1/25 |
5-115899501-C-T | SEMA6A | c.-39+10380G>A | - | intron_variant | - | 1/18 |
5-115899501-C-A | SEMA6A | c.-39+10380G>T | - | intron_variant | - | 1/18 |
2-135082689-T-C | MGAT5 | c.573+6379T>C | - | IntronicSNV | - | 4/15 |
3-186276393-C-T | TBCCD1 | c.337-32G>A | - | IntronicSNV | - | 2/7 |
7-107623496-T-C | LAMB1 | c.677-2240A>G | - | IntronicSNV | - | 7/33 |
9-2190296-A-G | SMARCA2 | c.4595-970A>G | - | IntronicSNV | - | 32/33 |
3-186276393-C-A | TBCCD1 | c.337-32G>T | - | IntronicSNV | - | 2/7 |
2-136016514-C-T | ZRANB3 | c.1539+6590G>A | - | IntronicSNV | - | 12/20 |
5-115859730-A-G | SEMA6A | c.1-19090T>C | - | IntronicSNV | - | 1/18 |
2-136016514-C-A | ZRANB3 | c.1539+6590G>T | - | IntronicSNV | - | 12/20 |
2-136151252-C-T | ZRANB3 | c.162-2862G>A | - | IntronicSNV | - | 2/20 |
1-208403258-C-T | PLXNA2 | c.1-11991G>A | - | IntronicSNV | - | 1/31 |
4-143634746-G-A | INPP4B | c.-290+12246C>T | - | intron_variant | - | 2/26 |
2-136590746-C-A | LCT | c.655G>T | p.Val219Phe | Missense | 2/17 | - |
2-136590746-C-G | LCT | c.655G>C | p.Val219Leu | Missense | 2/17 | - |
2-136726567-C-T | DARS | c.218-7499G>A | - | IntronicSNV | - | 3/15 |
5-170460205-A-T | RANBP17 | c.1710+64824A>T | - | IntronicSNV | - | 14/27 |
5-170460205-A-C | RANBP17 | c.1710+64824A>C | - | IntronicSNV | - | 14/27 |
5-170460205-A-G | RANBP17 | c.1710+64824A>G | - | IntronicSNV | - | 14/27 |
2-135972093-G-A | ZRANB3 | c.2495+2942C>T | - | IntronicSNV | - | 17/20 |
2-135036696-C-A | MGAT5 | c.406+8575C>A | - | IntronicSNV | - | 2/15 |
9-113547476-G-A | MUSK | c.1328+180G>A | - | IntronicSNV | - | 11/13 |
3-191960093-G-A | FGF12 | c.415-71648C>T | - | IntronicSNV | - | 3/4 |
14-78298732-C-G | ADCK1 | c.219+9871C>G | - | IntronicSNV | - | 3/10 |
2-135437534-C-T | TMEM163 | c.322+33236G>A | - | IntronicSNV | - | 2/7 |
2-136182484-C-T | ZRANB3 | c.162-34094G>A | - | IntronicSNV | - | 2/20 |
1-12296232-C-A | VPS13D | c.97+1812C>A | - | IntronicSNV | - | 2/69 |
2-135036696-C-T | MGAT5 | c.406+8575C>T | - | IntronicSNV | - | 2/15 |
2-136622543-T-G | MCM6 | c.1078+40A>C | - | IntronicSNV | - | 7/16 |
2-135370656-G-A | TMEM163 | c.323-60994C>T | - | IntronicSNV | - | 2/7 |
14-78298732-C-A | ADCK1 | c.219+9871C>A | - | IntronicSNV | - | 3/10 |
7-47317046-C-T | TNS3 | c.*628G>A | - | 3-UTRSNV | 31/31 | - |
1-241374115-A-G | RGS7 | c.79-112053T>C | - | IntronicSNV | - | 2/17 |
22-33048216-T-G | SYN3 | c.709-55494A>C | - | IntronicSNV | - | 6/13 |
5-32130401-C-T | GOLPH3 | c.473-3659G>A | - | IntronicSNV | - | 3/3 |
4-39420869-T-C | KLB | c.825+11475T>C | - | IntronicSNV | - | 1/4 |
12-54418920-G-A | HOXC4 | c.-124+7722G>A | - | intron_variant | - | 1/3 |
5-169253781-A-G | DOCK2 | c.2704-13980A>G | - | IntronicSNV | - | 26/51 |
2-135453916-T-C | TMEM163 | c.322+16854A>G | - | IntronicSNV | - | 2/7 |
2-135419075-G-A | TMEM163 | c.322+51695C>T | - | IntronicSNV | - | 2/7 |
17-7729706-A-G | DNAH2 | c.11853+1661A>G | - | IntronicSNV | - | 77/85 |
17-7729706-A-T | DNAH2 | c.11853+1661A>T | - | IntronicSNV | - | 77/85 |
2-135880065-A-G | RAB3GAP1 | c.748+1577A>G | - | IntronicSNV | - | 8/23 |
3-113652774-A-G | GRAMD1C | c.1352+274A>G | - | IntronicSNV | - | 12/17 |
17-75431978-T-C | SEPT9 | c.667+33193T>C | - | IntronicSNV | - | 2/10 |
7-121606698-C-T | PTPRZ1 | c.125-1307C>T | - | IntronicSNV | - | 2/29 |
10-542167-G-A | DIP2C | c.86-9697C>T | - | IntronicSNV | - | 1/36 |
2-135781635-C-T | MAP3K19 | c.22+561G>A | - | IntronicSNV | - | 1/9 |
10-547658-G-T | DIP2C | c.86-15188C>A | - | IntronicSNV | - | 1/36 |
6-32975896-A-G | HLA-DOA | c.225T>C | p.Gly75Gly | Synonymous | 2/5 | - |
6-33703230-G-A | IP6K3 | c.24C>T | p.Asp8Asp | Synonymous | 2/6 | - |
3-191990575-G-T | FGF12 | c.414+62575C>A | - | IntronicSNV | - | 3/4 |
1-61668784-C-T | NFIA | c.560-74408C>T | - | IntronicSNV | - | 2/9 |
2-136603276-T-C | MCM6 | c.2209+531A>G | - | IntronicSNV | - | 15/16 |
3-191990575-G-A | FGF12 | c.414+62575C>T | - | IntronicSNV | - | 3/4 |
2-86015651-T-C | ATOH8 | c.*1638T>C | - | 3-UTRSNV | 3/3 | - |
2-136115501-C-T | ZRANB3 | c.181-4303G>A | - | IntronicSNV | - | 3/20 |
2-136214307-C-T | ZRANB3 | c.161+47592G>A | - | IntronicSNV | - | 2/20 |
2-136127100-T-C | ZRANB3 | c.181-15902A>G | - | IntronicSNV | - | 3/20 |
10-82309427-T-C | SH2D4B | c.37+8738T>C | - | IntronicSNV | - | 1/6 |
1-74823548-G-A | FPGT-TNNI3K | c.1519+3735G>A | - | IntronicSNV | - | 13/26 |
5-14748958-T-G | ANKH | c.822+323A>C | - | IntronicSNV | - | 6/11 |
18-33752823-A-G | ELP2 | c.2325-1625A>G | - | IntronicSNV | - | 21/21 |
22-23625550-C-T | BCR | c.2116-614C>T | - | IntronicSNV | - | 8/22 |
5-14748556-T-C | ANKH | c.822+725A>G | - | IntronicSNV | - | 6/11 |
5-32588433-C-A | SUB1 | c.1-186C>A | - | IntronicSNV | - | 1/4 |
6-33036210-G-T | HLA-DPA1 | c.*217C>A | - | IntronicSNV | - | 4/4 |
12-50841057-A-G | LARP4 | c.804+5631A>G | - | IntronicSNV | - | 8/15 |
17-38335870-C-A | RAPGEFL1 | c.517+1237C>A | - | intron_variant | - | 2/15 |
10-547567-A-G | DIP2C | c.86-15097T>C | - | IntronicSNV | - | 1/36 |
8-19814696-C-G | LPL | c.1018+1102C>G | - | IntronicSNV | - | 6/9 |
15-29645263-A-G | FAM189A1 | c.276+28716T>C | - | IntronicSNV | - | 2/10 |
2-136101823-C-T | ZRANB3 | c.677+1297G>A | - | IntronicSNV | - | 6/20 |
8-10852164-G-C | XKR6 | c.765-69824C>G | - | IntronicSNV | - | 1/2 |
8-10852164-G-A | XKR6 | c.765-69824C>T | - | IntronicSNV | - | 1/2 |
3-3121848-C-T | IL5RA | c.995-3537G>A | - | IntronicSNV | - | 10/12 |
2-197986501-T-G | ANKRD44 | c.694-233A>C | - | IntronicSNV | - | 7/9 |
2-135980201-T-C | ZRANB3 | c.2250+1795A>G | - | IntronicSNV | - | 15/20 |
17-72691631-T-G | CD300LF | c.717+233A>C | - | IntronicSNV | - | 6/6 |
2-175293638-C-T | SCRN3 | c.*1015C>T | - | 3-UTRSNV | 8/8 | - |
17-72691631-T-A | CD300LF | c.717+233A>T | - | IntronicSNV | - | 6/6 |
2-135837906-C-A | RAB3GAP1 | c.151-10662C>A | - | IntronicSNV | - | 3/23 |
16-53769919-C-G | FTO | c.45+31778C>G | - | IntronicSNV | - | 1/8 |
2-136459227-A-G | R3HDM1 | c.2355-7776A>G | - | IntronicSNV | - | 20/25 |
8-10851455-A-G | XKR6 | c.765-69115T>C | - | IntronicSNV | - | 1/2 |
4-66469440-T-C | EPHA5 | c.247-1418A>G | - | IntronicSNV | - | 2/17 |
4-66469440-T-A | EPHA5 | c.247-1418A>T | - | IntronicSNV | - | 2/17 |
4-66469440-T-G | EPHA5 | c.247-1418A>C | - | IntronicSNV | - | 2/17 |
2-135902220-C-T | RAB3GAP1 | c.1924-5719C>T | - | IntronicSNV | - | 17/23 |
8-10851455-A-T | XKR6 | c.765-69115T>A | - | IntronicSNV | - | 1/2 |
12-56737973-A-G | STAT2 | c.2103-54T>C | - | IntronicSNV | - | 22/23 |
18-33721325-C-G | ELP2 | c.588+161C>G | - | IntronicSNV | - | 6/21 |
20-966215-A-G | RSPO4 | c.79+16514T>C | - | IntronicSNV | - | 1/4 |
1-200032080-C-A | NR5A2 | c.894+14134C>A | - | IntronicSNV | - | 4/6 |
2-136569848-C-A | LCT | c.2353+33G>T | - | IntronicSNV | - | 7/16 |
2-136602291-C-T | MCM6 | c.2210-37G>A | - | IntronicSNV | - | 15/16 |
2-135715957-A-T | CCNT2 | c.*3739A>T | - | 3-UTRSNV | 9/9 | - |
10-95164206-T-A | MYOF | c.730-230A>T | - | IntronicSNV | - | 7/53 |
2-163138785-G-A | IFIH1 | c.1306+91C>T | - | IntronicSNV | - | 6/15 |
2-135715957-A-G | CCNT2 | c.*3739A>G | - | 3-UTRSNV | 9/9 | - |
5-137903084-A-C | HSPA9 | c.716+60T>G | - | IntronicSNV | - | 7/16 |
20-37237147-T-A | ARHGAP40 | c.137+6425T>A | - | IntronicSNV | - | 1/14 |
20-37237147-T-C | ARHGAP40 | c.137+6425T>C | - | IntronicSNV | - | 1/14 |
20-37237147-T-G | ARHGAP40 | c.137+6425T>G | - | IntronicSNV | - | 1/14 |
2-135967778-A-G | ZRANB3 | c.2496-1230T>C | - | IntronicSNV | - | 17/20 |
17-35309848-A-C | AATF | c.284-338A>C | - | IntronicSNV | - | 2/11 |
16-76521236-T-A | CNTNAP4 | c.1880-2347T>A | - | intron_variant | - | 13/24 |
16-76521236-T-C | CNTNAP4 | c.1880-2347T>C | - | intron_variant | - | 13/24 |
6-51735261-G-C | PKHD1 | c.7486+41C>G | - | IntronicSNV | - | 47/66 |
6-51735261-G-T | PKHD1 | c.7486+41C>A | - | IntronicSNV | - | 47/66 |
2-135127474-A-G | MGAT5 | c.1380+7495A>G | - | IntronicSNV | - | 10/15 |
3-191946391-T-C | FGF12 | c.415-57946A>G | - | IntronicSNV | - | 3/4 |
11-67013660-T-C | KDM2A | c.1965+73T>C | - | IntronicSNV | - | 15/20 |
14-30125660-A-G | PRKD1 | c.696+7245T>C | - | IntronicSNV | - | 4/17 |
9-34399002-C-A | FAM219A | c.*1960G>T | - | 3-UTRSNV | 6/6 | - |
7-99426802-A-G | CYP3A43 | c.71+993A>G | - | IntronicSNV | - | 1/9 |
2-135340840-C-G | TMEM163 | c.323-31178G>C | - | IntronicSNV | - | 2/7 |
3-191979032-A-C | FGF12 | c.414+74118T>G | - | IntronicSNV | - | 3/4 |
7-42042398-A-G | GLI3 | c.1497+20669T>C | - | IntronicSNV | - | 10/14 |
4-143722951-T-C | INPP4B | c.-353+44411A>G | - | intron_variant | - | 1/26 |
5-137872116-G-A | ETF1 | c.86+6406C>T | - | IntronicSNV | - | 2/10 |
6-76572668-A-G | MYO6 | c.1674+228A>G | - | IntronicSNV | - | 16/34 |
5-32159329-A-G | GOLPH3 | c.225+14587T>C | - | IntronicSNV | - | 1/3 |
1-155038756-T-C | EFNA4 | c.114-450T>C | - | IntronicSNV | - | 1/3 |
12-56717466-C-T | PAN2 | c.2173-84G>A | - | IntronicSNV | - | 14/25 |
21-27032815-T-C | JAM2 | c.67+20615T>C | - | IntronicSNV | - | 1/8 |
2-135392958-G-A | TMEM163 | c.322+77812C>T | - | IntronicSNV | - | 2/7 |
6-51732628-G-A | PKHD1 | c.7733+33C>T | - | IntronicSNV | - | 48/66 |
5-115886945-G-T | SEMA6A | c.-39+22936C>A | - | intron_variant | - | 1/18 |
7-99217424-G-A | ZSCAN25 | c.195G>A | p.Glu65Glu | Synonymous | 4/8 | - |
2-135973768-A-G | ZRANB3 | c.2495+1267T>C | - | IntronicSNV | - | 17/20 |
2-135777504-A-G | MAP3K19 | c.138+1781T>C | - | IntronicSNV | - | 2/9 |
18-6023233-G-A | L3MBTL4 | c.1471+23494C>T | - | IntronicSNV | - | 17/19 |
2-136630687-G-C | MCM6 | c.108-274C>G | - | IntronicSNV | - | 1/16 |
2-136630687-G-A | MCM6 | c.108-274C>T | - | IntronicSNV | - | 1/16 |
5-142162633-G-A | ARHGAP26 | c.154+12153G>A | - | IntronicSNV | - | 1/22 |
2-135079528-C-G | MGAT5 | c.573+3218C>G | - | IntronicSNV | - | 4/15 |
2-135079528-C-T | MGAT5 | c.573+3218C>T | - | IntronicSNV | - | 4/15 |
2-135451302-G-T | TMEM163 | c.322+19468C>A | - | IntronicSNV | - | 2/7 |
16-76523792-A-G | CNTNAP4 | c.2077+12A>G | - | intron_variant | - | 14/24 |
2-135762980-C-T | MAP3K19 | c.235+25G>A | - | IntronicSNV | - | 3/9 |
12-6437389-T-C | PLEKHG6 | c.*78T>C | - | 3-UTRSNV | 16/16 | - |
9-132940007-C-T | NCS1 | c.64+5001C>T | - | IntronicSNV | - | 1/7 |
6-109941321-C-T | AK9 | c.1255-882G>A | - | IntronicSNV | - | 12/40 |
6-109941321-C-G | AK9 | c.1255-882G>C | - | IntronicSNV | - | 12/40 |
22-23625655-C-T | BCR | c.2116-509C>T | - | IntronicSNV | - | 8/22 |
1-208396156-T-C | PLXNA2 | c.1-4889A>G | - | IntronicSNV | - | 1/31 |
2-136575534-T-A | LCT | c.1084A>T | p.Ile362Phe | Missense | 6/17 | - |
2-163416447-G-A | KCNH7 | c.308-22857C>T | - | IntronicSNV | - | 2/15 |
1-92519197-C-T | EPHX4 | c.857+982C>T | - | IntronicSNV | - | 6/6 |
12-56607927-C-T | RNF41 | c.1-96G>A | - | IntronicSNV | - | 2/6 |
2-136095604-C-T | ZRANB3 | c.677+7516G>A | - | IntronicSNV | - | 6/20 |
3-197564995-G-T | LRCH3 | c.1252-1197G>T | - | IntronicSNV | - | 9/18 |
16-12776837-G-A | CPPED1 | c.716-17865C>T | - | IntronicSNV | - | 3/3 |
2-136542560-A-G | UBXN4 | c.*2103A>G | - | 3-UTRSNV | 13/13 | - |
12-56717466-C-G | PAN2 | c.2173-84G>C | - | IntronicSNV | - | 14/25 |
15-75111984-C-T | LMAN1L | c.718+371C>T | - | IntronicSNV | - | 6/13 |
17-72681941-C-T | RAB37 | c.72+14144C>T | - | IntronicSNV | - | 1/8 |
2-135094416-G-A | MGAT5 | c.645+557G>A | - | IntronicSNV | - | 5/15 |
3-140696799-C-A | SLC25A36 | c.*1504C>A | - | 3-UTRSNV | 7/7 | - |
2-136123848-G-A | ZRANB3 | c.181-12650C>T | - | IntronicSNV | - | 3/20 |
3-140696799-C-T | SLC25A36 | c.*1504C>T | - | 3-UTRSNV | 7/7 | - |
2-197979685-G-A | ANKRD44 | c.907-4117C>T | - | IntronicSNV | - | 8/9 |
1-12305286-G-C | VPS13D | c.447+612G>C | - | IntronicSNV | - | 5/69 |
14-78065539-T-A | SPTLC2 | c.133-1816A>T | - | IntronicSNV | - | 1/11 |
7-42053928-C-T | GLI3 | c.1497+9139G>A | - | IntronicSNV | - | 10/14 |
3-3123326-A-C | IL5RA | c.995-5015T>G | - | IntronicSNV | - | 10/12 |
5-14681797-C-T | OTULIN | c.468+81C>T | - | IntronicSNV | - | 4/6 |
19-47692870-C-T | SAE1 | c.734-7620C>T | - | IntronicSNV | - | 6/8 |
2-136250285-C-T | ZRANB3 | c.161+11614G>A | - | IntronicSNV | - | 2/20 |
5-14751055-G-T | ANKH | c.687+123C>A | - | IntronicSNV | - | 5/11 |
7-99436198-G-A | CYP3A43 | c.166-102G>A | - | IntronicSNV | - | 2/9 |
2-135976498-A-G | ZRANB3 | c.2352+149T>C | - | IntronicSNV | - | 16/20 |
2-136001215-T-G | ZRANB3 | c.1540-12718A>C | - | IntronicSNV | - | 12/20 |
3-191934829-G-A | FGF12 | c.415-46384C>T | - | IntronicSNV | - | 3/4 |
4-148763687-C-T | ARHGAP10 | c.313-4615C>T | - | IntronicSNV | - | 3/22 |
19-47700860-A-G | SAE1 | c.878+226A>G | - | IntronicSNV | - | 7/8 |
2-135693537-C-T | CCNT2 | c.241-874C>T | - | IntronicSNV | - | 2/8 |
1-92550586-G-A | BTBD8 | c.150-3669G>A | - | IntronicSNV | - | 1/8 |
12-121768248-C-T | ANAPC5 | c.825+138G>A | - | IntronicSNV | - | 9/16 |
6-33035877-A-C | HLA-DPA1 | c.*550T>G | - | IntronicSNV | - | 4/4 |
2-136198435-C-A | ZRANB3 | c.162-50045G>T | - | IntronicSNV | - | 2/20 |
18-57358629-A-T | CCBE1 | c.212+5232T>A | - | IntronicSNV | - | 2/10 |
6-33035877-A-G | HLA-DPA1 | c.*550T>C | - | IntronicSNV | - | 4/4 |
8-10549767-A-G | C8orf74 | c.242-5342A>G | - | IntronicSNV | - | 2/3 |
2-135231203-T-C | TMEM163 | c.556-7407A>G | - | IntronicSNV | - | 5/7 |
2-136276305-T-C | ZRANB3 | c.-8+12392A>G | - | intron_variant | - | 1/20 |
2-135392958-G-C | TMEM163 | c.322+77812C>G | - | IntronicSNV | - | 2/7 |
17-72673549-G-A | RAB37 | c.72+5752G>A | - | IntronicSNV | - | 1/8 |
12-50847810-A-G | LARP4 | c.1018-287A>G | - | IntronicSNV | - | 9/15 |
2-200154449-G-C | SATB2 | c.1741-17054C>G | - | IntronicSNV | - | 11/11 |
2-136429707-G-A | R3HDM1 | c.2048-3195G>A | - | IntronicSNV | - | 18/25 |
5-32131204-G-C | GOLPH3 | c.473-4462C>G | - | IntronicSNV | - | 3/3 |
10-93000211-G-T | PCGF5 | c.113-30G>T | - | IntronicSNV | - | 2/9 |
2-135762344-C-T | MAP3K19 | c.235+661G>A | - | IntronicSNV | - | 3/9 |
6-33050279-A-G | HLA-DPB1 | c.364+1567A>G | - | IntronicSNV | - | 2/5 |
2-135997275-C-A | ZRANB3 | c.1540-8778G>T | - | IntronicSNV | - | 12/20 |
2-136187345-C-T | ZRANB3 | c.162-38955G>A | - | IntronicSNV | - | 2/20 |
6-15503575-C-T | JARID2 | c.2449-1156C>T | - | IntronicSNV | - | 8/17 |
15-29661095-T-G | FAM189A1 | c.276+12884A>C | - | IntronicSNV | - | 2/10 |
2-136409574-A-T | R3HDM1 | c.1895A>T | p.Gln632Leu | Missense | 17/26 | - |
15-29661095-T-A | FAM189A1 | c.276+12884A>T | - | IntronicSNV | - | 2/10 |
6-109904031-C-T | AK9 | c.2114+2295G>A | - | IntronicSNV | - | 19/40 |
6-109904031-C-A | AK9 | c.2114+2295G>T | - | IntronicSNV | - | 19/40 |
2-136420908-A-C | R3HDM1 | c.2047+1945A>C | - | IntronicSNV | - | 18/25 |
5-115887466-G-A | SEMA6A | c.-39+22415C>T | - | intron_variant | - | 1/18 |
3-191945126-G-T | FGF12 | c.415-56681C>A | - | IntronicSNV | - | 3/4 |
11-103835243-A-T | PDGFD | c.511-16791T>A | - | IntronicSNV | - | 3/6 |
4-48229886-A-G | TEC | c.138+608T>C | - | IntronicSNV | - | 2/17 |
11-11365991-A-G | GALNT18 | c.1093-3440T>C | - | IntronicSNV | - | 6/10 |
11-11370093-A-G | GALNT18 | c.1093-7542T>C | - | IntronicSNV | - | 6/10 |
9-4733379-G-C | AK3 | c.151+7558C>G | - | IntronicSNV | - | 1/4 |
2-97489870-C-A | CNNM3 | c.1226-925C>A | - | IntronicSNV | - | 1/7 |
2-136214800-T-C | ZRANB3 | c.161+47099A>G | - | IntronicSNV | - | 2/20 |
5-32592961-G-C | SUB1 | c.195+1170G>C | - | IntronicSNV | - | 3/4 |
15-72893022-C-G | ARIH1 | c.*17389C>G | - | IntergenicSNV | 14/14 | - |
6-109928946-A-G | AK9 | c.1842+2622T>C | - | IntronicSNV | - | 17/40 |
2-135401339-T-A | TMEM163 | c.322+69431A>T | - | IntronicSNV | - | 2/7 |
3-4461569-G-A | SUMF1 | c.602+179C>T | - | IntronicSNV | - | 4/8 |
2-135958693-C-T | ZRANB3 | c.3142-683G>A | - | IntronicSNV | - | 20/20 |
2-136423904-C-T | R3HDM1 | c.2047+4941C>T | - | IntronicSNV | - | 18/25 |
1-240312435-C-T | FMN2 | c.1782+25790C>T | - | IntronicSNV | - | 2/17 |
12-71529491-G-A | TSPAN8 | c.444+2242C>T | - | IntronicSNV | - | 6/8 |
17-75427551-T-C | SEPT9 | c.667+28766T>C | - | IntronicSNV | - | 2/10 |
2-135763318-G-A | MAP3K19 | c.139-217C>T | - | IntronicSNV | - | 2/9 |
9-130064972-G-T | GARNL3 | c.220-8943G>T | - | IntronicSNV | - | 2/27 |
20-37238703-C-T | ARHGAP40 | c.137+7981C>T | - | IntronicSNV | - | 1/14 |
4-148779548-G-C | ARHGAP10 | c.486+743G>C | - | IntronicSNV | - | 5/22 |
2-135925002-T-G | RAB3GAP1 | c.2710-1113T>G | - | IntronicSNV | - | 23/23 |
3-186260740-A-T | CRYGS | c.21+1355T>A | - | IntronicSNV | - | 1/2 |
10-542167-G-T | DIP2C | c.86-9697C>A | - | IntronicSNV | - | 1/36 |
2-135849613-G-A | RAB3GAP1 | c.283+913G>A | - | IntronicSNV | - | 4/23 |
4-148779548-G-T | ARHGAP10 | c.486+743G>T | - | IntronicSNV | - | 5/22 |
4-148827747-A-T | ARHGAP10 | c.1035-42A>T | - | IntronicSNV | - | 10/22 |
15-29638189-G-C | FAM189A1 | c.276+35790C>G | - | IntronicSNV | - | 2/10 |
2-136007349-T-C | ZRANB3 | c.1539+15755A>G | - | IntronicSNV | - | 12/20 |
6-76586197-C-A | MYO6 | c.2077+3180C>A | - | IntronicSNV | - | 20/34 |
18-57358418-T-A | CCBE1 | c.212+5443A>T | - | IntronicSNV | - | 2/10 |
2-136711064-C-T | DARS | c.320+7902G>A | - | IntronicSNV | - | 4/15 |
7-99435739-A-G | CYP3A43 | c.166-561A>G | - | IntronicSNV | - | 2/9 |
16-297750-T-C | FAM234A | c.-139-1798T>C | - | intron_variant | - | 1/12 |
18-46608271-A-G | DYM | c.1860+15501T>C | - | IntronicSNV | - | 16/16 |
16-76523792-A-C | CNTNAP4 | c.2077+12A>C | - | intron_variant | - | 14/24 |
2-136545844-C-G | LCT | c.*50G>C | - | 3-UTRSNV | 17/17 | - |
1-182759592-G-T | NPL | c.-72+652G>T | - | intron_variant | - | 1/12 |
2-136147948-G-A | ZRANB3 | c.180+424C>T | - | IntronicSNV | - | 3/20 |
5-169266257-G-A | DOCK2 | c.2704-1504G>A | - | IntronicSNV | - | 26/51 |
5-169266257-G-C | DOCK2 | c.2704-1504G>C | - | IntronicSNV | - | 26/51 |
2-136721603-A-T | DARS | c.218-2535T>A | - | IntronicSNV | - | 3/15 |
2-136418741-T-C | R3HDM1 | c.1924-99T>C | - | IntronicSNV | - | 17/25 |
1-12319994-G-T | VPS13D | c.1111-756G>T | - | IntronicSNV | - | 10/69 |
2-200142591-T-A | SATB2 | c.1741-5196A>T | - | IntronicSNV | - | 11/11 |
2-136721603-A-G | DARS | c.218-2535T>C | - | IntronicSNV | - | 3/15 |
2-218757417-T-G | TNS1 | c.407+254A>C | - | IntronicSNV | - | 9/32 |
4-148445429-A-C | EDNRA | c.421-11600A>C | - | IntronicSNV | - | 2/5 |
22-23625330-G-T | BCR | c.2116-834G>T | - | IntronicSNV | - | 8/22 |
3-191947215-T-C | FGF12 | c.415-58770A>G | - | IntronicSNV | - | 3/4 |
11-117610854-G-A | DSCAML1 | c.511+36652C>T | - | intron_variant | - | 3/32 |
14-81495039-C-T | TSHR | c.171-33453C>T | - | IntronicSNV | - | 1/9 |
5-137876920-G-C | ETF1 | c.86+1602C>G | - | IntronicSNV | - | 2/10 |
14-51552126-G-A | TRIM9 | c.822+8710C>T | - | IntronicSNV | - | 1/9 |
2-135876308-C-T | RAB3GAP1 | c.649-2081C>T | - | IntronicSNV | - | 7/23 |
2-163416447-G-T | KCNH7 | c.308-22857C>A | - | IntronicSNV | - | 2/15 |
2-163152022-G-A | IFIH1 | c.770-1844C>T | - | IntronicSNV | - | 3/15 |
1-241378595-C-T | RGS7 | c.79-116533G>A | - | IntronicSNV | - | 2/17 |
8-19472837-A-C | CSGALNACT1 | c.-543-13461T>G | - | intron_variant | - | 1/9 |
2-136020977-A-C | ZRANB3 | c.1539+2127T>G | - | IntronicSNV | - | 12/20 |
16-53771162-T-C | FTO | c.45+33021T>C | - | IntronicSNV | - | 1/8 |
14-51552126-G-T | TRIM9 | c.822+8710C>A | - | IntronicSNV | - | 1/9 |
2-135699619-T-C | CCNT2 | c.431-563T>C | - | IntronicSNV | - | 4/8 |
2-163128725-A-G | IFIH1 | c.2616+11T>C | - | IntronicSNV | - | 13/15 |
2-136068800-A-T | ZRANB3 | c.966+2259T>A | - | IntronicSNV | - | 8/20 |
2-136068800-A-G | ZRANB3 | c.966+2259T>C | - | IntronicSNV | - | 8/20 |
2-136723504-C-T | DARS | c.218-4436G>A | - | IntronicSNV | - | 3/15 |
3-191924614-A-C | FGF12 | c.415-36169T>G | - | IntronicSNV | - | 3/4 |
20-941312-G-T | RSPO4 | c.596-203C>A | - | IntronicSNV | - | 4/4 |
6-151223680-G-A | MTHFD1L | c.781-3106G>A | - | IntronicSNV | - | 7/27 |
3-191924614-A-G | FGF12 | c.415-36169T>C | - | IntronicSNV | - | 3/4 |
2-136582694-T-C | LCT | c.805-1121A>G | - | IntronicSNV | - | 3/16 |
6-109994310-T-C | AK9 | c.182-940A>G | - | IntronicSNV | - | 3/40 |
2-136133578-G-A | ZRANB3 | c.180+14794C>T | - | IntronicSNV | - | 3/20 |
2-136080822-A-G | ZRANB3 | c.678-7722T>C | - | IntronicSNV | - | 6/20 |
14-61961410-G-T | PRKCH | c.1433+9036G>T | - | IntronicSNV | - | 10/13 |
1-12305286-G-A | VPS13D | c.447+612G>A | - | IntronicSNV | - | 5/69 |
2-163152351-T-C | IFIH1 | c.770-2173A>G | - | IntronicSNV | - | 3/15 |
2-135370656-G-T | TMEM163 | c.323-60994C>A | - | IntronicSNV | - | 2/7 |
12-56417403-T-C | IKZF4 | c.88-52T>C | - | IntronicSNV | - | 1/7 |
8-18645308-G-A | PSD3 | c.2082+11497C>T | - | IntronicSNV | - | 8/15 |
2-136726567-C-A | DARS | c.218-7499G>T | - | IntronicSNV | - | 3/15 |
2-135691659-A-C | CCNT2 | c.241-2752A>C | - | IntronicSNV | - | 2/8 |
20-17581431-A-G | DSTN | c.1A>G | p.Met1Val | Missense | - | 2/4 |
20-17585552-G-A | DSTN | c.337+276G>A | - | IntronicSNV | - | 4/4 |
5-170305776-T-C | RANBP17 | c.165+529T>C | - | IntronicSNV | - | 2/27 |
2-200147409-G-A | SATB2 | c.1741-10014C>T | - | IntronicSNV | - | 11/11 |
2-136674028-A-G | DARS | c.960-86T>C | - | IntronicSNV | - | 10/15 |
4-143575740-A-G | INPP4B | c.-290+71252T>C | - | intron_variant | - | 2/26 |
2-136106561-T-C | ZRANB3 | c.591+993A>G | - | IntronicSNV | - | 5/20 |
6-109877759-T-A | AK9 | c.2752-6254A>T | - | IntronicSNV | - | 24/40 |
5-170401291-T-A | RANBP17 | c.1710+5910T>A | - | IntronicSNV | - | 14/27 |
12-65759885-C-A | MSRB3 | c.285-2893C>A | - | IntronicSNV | - | 3/5 |
12-130188504-T-A | TMEM132D | c.80-3261A>T | - | IntronicSNV | - | 1/8 |
4-143722951-T-A | INPP4B | c.-353+44411A>T | - | intron_variant | - | 1/26 |
4-103497785-G-A | NFKB1 | c.408-248G>A | - | IntronicSNV | - | 6/23 |
6-109896308-G-A | AK9 | c.2192-1511C>T | - | IntronicSNV | - | 20/40 |
5-115886945-G-A | SEMA6A | c.-39+22936C>T | - | intron_variant | - | 1/18 |
15-91274575-G-T | BLM | c.-5+13904G>T | - | intron_variant | - | 1/21 |
9-129777653-A-T | RALGPS1 | c.217-19057A>T | - | IntronicSNV | - | 4/18 |
9-129777653-A-G | RALGPS1 | c.217-19057A>G | - | IntronicSNV | - | 4/18 |
7-78839317-C-T | MAGI2 | c.302-202795G>A | - | IntronicSNV | - | 1/21 |
2-136465856-T-C | R3HDM1 | c.2355-1147T>C | - | IntronicSNV | - | 20/25 |
17-75423198-C-T | SEPT9 | c.667+24413C>T | - | IntronicSNV | - | 2/10 |
1-155059851-A-G | EFNA3 | c.*832A>G | - | 3-UTRSNV | 5/5 | - |
17-75423198-C-A | SEPT9 | c.667+24413C>A | - | IntronicSNV | - | 2/10 |
2-135258363-A-G | TMEM163 | c.555+2109T>C | - | IntronicSNV | - | 5/7 |
2-136582694-T-G | LCT | c.805-1121A>C | - | IntronicSNV | - | 3/16 |
2-135893372-A-G | RAB3GAP1 | c.1793A>G | p.Asn598Ser | Missense | 17/24 | - |
2-135893372-A-C | RAB3GAP1 | c.1793A>C | p.Asn598Thr | Missense | 17/24 | - |
5-169282375-C-T | DOCK2 | c.2799+14519C>T | - | IntronicSNV | - | 27/51 |
15-72873727-T-C | ARIH1 | c.1476+395T>C | - | IntronicSNV | - | 12/13 |
2-136455296-A-G | R3HDM1 | c.2355-11707A>G | - | IntronicSNV | - | 20/25 |
11-103835243-A-G | PDGFD | c.511-16791T>C | - | IntronicSNV | - | 3/6 |
5-14750823-T-C | ANKH | c.687+355A>G | - | IntronicSNV | - | 5/11 |
5-169282375-C-G | DOCK2 | c.2799+14519C>G | - | IntronicSNV | - | 27/51 |
2-135722328-A-G | MAP3K19 | c.*92T>C | - | 3-UTRSNV | 10/10 | - |
11-8186677-A-G | RIC3 | c.124+3736T>C | - | IntronicSNV | - | 1/5 |
2-175300997-G-A | GPR155 | c.2460C>T | p.Asn820Asn | Synonymous | 16/16 | - |
6-109976134-A-G | AK9 | c.759+1825T>C | - | IntronicSNV | - | 8/40 |
7-99435739-A-C | CYP3A43 | c.166-561A>C | - | IntronicSNV | - | 2/9 |
4-140616874-G-A | MGST2 | c.229+453G>A | - | IntronicSNV | - | 3/4 |
7-99435739-A-T | CYP3A43 | c.166-561A>T | - | IntronicSNV | - | 2/9 |
5-132013179-C-G | IL4 | c.184-2227C>G | - | IntronicSNV | - | 2/3 |
19-6392078-A-G | GTF2F1 | c.60-93T>C | - | IntronicSNV | - | 2/12 |
18-46608271-A-T | DYM | c.1860+15501T>A | - | IntronicSNV | - | 16/16 |
2-65298657-A-G | CEP68 | c.427A>G | p.Ile143Val | Missense | 3/7 | - |
2-63474793-T-A | WDPCP | c.1915+11649A>T | - | IntronicSNV | - | 14/17 |
2-63474793-T-C | WDPCP | c.1915+11649A>G | - | IntronicSNV | - | 14/17 |
1-155026114-C-T | ADAM15 | c.263+145C>T | - | IntronicSNV | - | 3/20 |
6-33740382-G-A | LEMD2 | c.*23C>T | - | 3-UTRSNV | 9/9 | - |
18-13447995-G-A | LDLRAD4 | c.181+9612G>A | - | IntronicSNV | - | 3/5 |
12-44932268-T-C | NELL2 | c.1664-5764A>G | - | IntronicSNV | - | 16/20 |
6-109928008-T-C | AK9 | c.1842+3560A>G | - | IntronicSNV | - | 17/40 |
18-66712510-A-G | CCDC102B | c.1435-8757A>G | - | IntronicSNV | - | 7/7 |
6-33766131-T-C | MLN | c.234+751A>G | - | IntronicSNV | - | 3/4 |
6-109965474-G-A | AK9 | c.834+343C>T | - | IntronicSNV | - | 9/40 |
3-4355483-A-G | SETMAR | c.1020+38A>G | - | IntronicSNV | - | 2/2 |
7-139670417-T-A | TBXAS1 | c.1134+8385T>A | - | intron_variant | - | 9/12 |
2-136714178-A-G | DARS | c.320+4788T>C | - | IntronicSNV | - | 4/15 |
18-25576002-C-T | CDH2 | c.1021-2401G>A | - | IntronicSNV | - | 7/15 |
17-73550047-A-G | LLGL2 | c.76-2080A>G | - | IntronicSNV | - | 2/24 |
18-66712510-A-C | CCDC102B | c.1435-8757A>C | - | IntronicSNV | - | 7/7 |
2-163137181-A-T | IFIH1 | c.1525-559T>A | - | IntronicSNV | - | 7/15 |
2-101595235-A-G | NPAS2 | c.1482+974A>G | - | IntronicSNV | - | 15/20 |
5-115166713-C-T | ATG12 | c.*788G>A | - | 3-UTRSNV | 4/4 | - |
9-34423806-C-T | FAM219A | c.61-17844G>A | - | IntronicSNV | - | 1/5 |
22-35779844-T-A | HMOX1 | c.144+625T>A | - | IntronicSNV | - | 2/4 |
2-136292425-A-G | R3HDM1 | c.-250+3222A>G | - | intron_variant | - | 1/25 |
5-14750251-T-C | ANKH | c.688-836A>G | - | IntronicSNV | - | 5/11 |
22-33050136-G-A | SYN3 | c.709-57414C>T | - | IntronicSNV | - | 6/13 |
2-135291135-C-T | TMEM163 | c.458+17006G>A | - | IntronicSNV | - | 4/7 |
22-23623284-T-C | BCR | c.2116-2880T>C | - | IntronicSNV | - | 8/22 |
2-135389197-A-G | TMEM163 | c.323-79535T>C | - | IntronicSNV | - | 2/7 |
20-32873447-G-A | AHCY | c.973-7C>T | - | IntronicSNV | - | 8/9 |
6-33754396-A-G | LEMD2 | c.777+115T>C | - | IntronicSNV | - | 2/8 |
2-135966669-T-G | ZRANB3 | c.2496-121A>C | - | IntronicSNV | - | 17/20 |
19-56626448-A-T | ZNF787 | c.-11+6093T>A | - | intron_variant | - | 1/2 |
1-197401180-G-A | CRB1 | c.2842+2436G>A | - | IntronicSNV | - | 8/11 |
19-56626448-A-C | ZNF787 | c.-11+6093T>G | - | intron_variant | - | 1/2 |
9-123675133-C-G | TRAF1 | c.705+473G>C | - | IntronicSNV | - | 5/7 |
1-1198618-T-A | UBE2J2 | c.172+108A>T | - | IntronicSNV | - | 3/6 |
2-135165813-T-G | MGAT5 | c.1531-4627T>G | - | IntronicSNV | - | 11/15 |
5-115891789-T-C | SEMA6A | c.-39+18092A>G | - | intron_variant | - | 1/18 |
2-135129865-T-C | MGAT5 | c.1380+9886T>C | - | IntronicSNV | - | 10/15 |
2-135129865-T-A | MGAT5 | c.1380+9886T>A | - | IntronicSNV | - | 10/15 |
12-123049746-G-T | KNTC1 | c.1604+2500G>T | - | IntronicSNV | - | 20/63 |
2-136388473-T-C | R3HDM1 | c.498-815T>C | - | IntronicSNV | - | 7/25 |
2-135818907-C-T | RAB3GAP1 | c.150+3251C>T | - | IntronicSNV | - | 3/23 |
20-18733678-A-G | DTD1 | c.*8782A>G | - | IntronicSNV | - | 5/5 |
8-16932100-G-A | MICU3 | c.568-3192G>A | - | IntronicSNV | - | 3/14 |
4-40461712-G-A | RBM47 | c.-32+6882C>T | - | intron_variant | - | 2/4 |
5-14745268-T-C | ANKH | c.915+711A>G | - | IntronicSNV | - | 7/11 |
2-135454032-T-C | TMEM163 | c.322+16738A>G | - | IntronicSNV | - | 2/7 |
3-185805993-C-T | ETV5 | c.233-7029G>A | - | IntronicSNV | - | 5/12 |
3-191981960-A-G | FGF12 | c.414+71190T>C | - | IntronicSNV | - | 3/4 |
4-148821136-A-T | ARHGAP10 | c.1035-6653A>T | - | IntronicSNV | - | 10/22 |
5-14747247-C-T | ANKH | c.823-1176G>A | - | IntronicSNV | - | 6/11 |
2-136344372-G-C | R3HDM1 | c.-249-15698G>C | - | intron_variant | - | 1/25 |
2-136344372-G-A | R3HDM1 | c.-249-15698G>A | - | intron_variant | - | 1/25 |
2-135243175-T-A | TMEM163 | c.555+17297A>T | - | IntronicSNV | - | 5/7 |
2-136672775-C-T | DARS | c.1107-694G>A | - | IntronicSNV | - | 11/15 |
6-39307514-T-G | KIF6 | c.2429-3190A>C | - | IntronicSNV | - | 22/22 |
1-185881528-A-G | HMCN1 | c.900+616A>G | - | IntronicSNV | - | 6/106 |
6-51709404-T-C | PKHD1 | c.8107+3169A>G | - | IntronicSNV | - | 50/66 |
9-130125184-G-A | GARNL3 | c.2095-2395G>A | - | IntronicSNV | - | 21/27 |
2-163123704-C-T | IFIH1 | c.*6G>A | - | 3-UTRSNV | 16/16 | - |
4-140643064-A-G | MAML3 | c.2417-1587T>C | - | IntronicSNV | - | 4/4 |
2-135781035-C-T | MAP3K19 | c.22+1161G>A | - | IntronicSNV | - | 1/9 |
2-136672775-C-G | DARS | c.1107-694G>C | - | IntronicSNV | - | 11/15 |
5-137903084-A-G | HSPA9 | c.716+60T>C | - | IntronicSNV | - | 7/16 |
2-136092869-G-T | ZRANB3 | c.677+10251C>A | - | IntronicSNV | - | 6/20 |
2-135124303-G-T | MGAT5 | c.1380+4324G>T | - | IntronicSNV | - | 10/15 |
7-99220083-A-C | ZSCAN25 | c.590-89A>C | - | IntronicSNV | - | 5/7 |
11-8088757-C-T | TUB | c.204-22400C>T | - | IntronicSNV | - | 2/12 |
11-8088757-C-A | TUB | c.204-22400C>A | - | IntronicSNV | - | 2/12 |
14-21978262-T-C | METTL3 | c.100+1004A>G | - | IntronicSNV | - | 1/10 |
7-100377082-T-C | ZAN | c.6329T>C | - | missense_variant | 36/49 | - |
2-136288403-G-A | ZRANB3 | c.-8+294C>T | - | intron_variant | - | 1/20 |
2-136694905-T-C | DARS | c.424-3345A>G | - | IntronicSNV | - | 5/15 |
12-111502280-C-T | CUX2 | c.63+30236C>T | - | IntronicSNV | - | 1/21 |
11-3659993-G-T | ART5 | c.851C>A | p.Thr284Lys | Missense | 4/4 | - |
11-3659993-G-A | ART5 | c.851C>T | p.Thr284Met | Missense | 4/4 | - |
2-135887893-T-C | RAB3GAP1 | c.1067-229T>C | - | IntronicSNV | - | 12/23 |
2-136221500-C-A | ZRANB3 | c.161+40399G>T | - | IntronicSNV | - | 2/20 |
6-35274430-C-T | DEF6 | c.97-3017C>T | - | IntronicSNV | - | 1/10 |
5-32133463-G-T | GOLPH3 | c.472+2215C>A | - | IntronicSNV | - | 3/3 |
3-182672036-T-C | DCUN1D1 | c.521-6616A>G | - | IntronicSNV | - | 4/6 |
3-30032530-A-G | RBMS3 | c.1126-43A>G | - | IntronicSNV | - | 12/13 |
3-30032530-A-C | RBMS3 | c.1126-43A>C | - | IntronicSNV | - | 12/13 |
2-136462661-C-T | R3HDM1 | c.2355-4342C>T | - | IntronicSNV | - | 20/25 |
6-109870688-T-C | AK9 | c.2964+605A>G | - | IntronicSNV | - | 25/40 |
6-109870688-T-A | AK9 | c.2964+605A>T | - | IntronicSNV | - | 25/40 |
20-7908901-C-G | HAO1 | c.289+6230G>C | - | IntronicSNV | - | 2/7 |
5-115888195-T-C | SEMA6A | c.-39+21686A>G | - | intron_variant | - | 1/18 |
3-184066615-A-G | CLCN2 | c.2365-1806T>C | - | IntronicSNV | - | 22/23 |
1-9068386-G-A | SLC2A7 | c.1117-942C>T | - | IntronicSNV | - | 9/11 |
1-176453688-G-T | PAPPA2 | c.-917+21134G>T | - | intron_variant | - | 1/22 |
17-72673549-G-T | RAB37 | c.72+5752G>T | - | IntronicSNV | - | 1/8 |
5-115885672-G-T | SEMA6A | c.-39+24209C>A | - | intron_variant | - | 1/18 |
2-163148072-C-T | IFIH1 | c.874+2002G>A | - | IntronicSNV | - | 4/15 |
1-154528086-T-C | UBE2Q1 | c.433-78A>G | - | IntronicSNV | - | 2/12 |
10-102053992-C-T | PKD2L1 | c.1659+300G>A | - | IntronicSNV | - | 9/15 |
10-102053992-C-A | PKD2L1 | c.1659+300G>T | - | IntronicSNV | - | 9/15 |
6-44228162-G-A | NFKBIE | c.780+26C>T | - | intron_variant | - | 4/5 |
1-182798924-G-T | NPL | c.*881G>T | - | 3-UTRSNV | 13/13 | - |
2-135093153-T-C | MGAT5 | c.574-635T>C | - | IntronicSNV | - | 4/15 |
6-131991532-G-T | ENPP3 | c.563-856G>T | - | IntronicSNV | - | 6/24 |
2-135780168-A-T | MAP3K19 | c.23-768T>A | - | IntronicSNV | - | 1/9 |
3-179736974-C-T | PEX5L | c.21+17393G>A | - | IntronicSNV | - | 1/14 |
2-135780168-A-G | MAP3K19 | c.23-768T>C | - | IntronicSNV | - | 1/9 |
9-129984107-G-A | RALGPS1 | c.*3059G>A | - | 3-UTRSNV | 19/19 | - |
2-136157913-T-C | ZRANB3 | c.162-9523A>G | - | IntronicSNV | - | 2/20 |
2-136219831-G-A | ZRANB3 | c.161+42068C>T | - | IntronicSNV | - | 2/20 |
10-45878050-G-A | ALOX5 | c.270G>A | p.Thr90Thr | Synonymous | 2/14 | - |
10-45878050-G-C | ALOX5 | c.270G>C | p.Thr90Thr | Synonymous | 2/14 | - |
6-109877759-T-C | AK9 | c.2752-6254A>G | - | IntronicSNV | - | 24/40 |
2-135289232-G-T | TMEM163 | c.458+18909C>A | - | IntronicSNV | - | 4/7 |
11-4098252-G-T | STIM1 | c.969+2343G>T | - | IntronicSNV | - | 7/11 |
15-28415850-C-T | HERC2 | c.10058-1049G>A | - | IntronicSNV | - | 65/92 |
5-139060486-G-T | CXXC5 | c.378G>T | p.Ala126Ala | Synonymous | 2/3 | - |
2-135825074-T-C | RAB3GAP1 | c.150+9418T>C | - | IntronicSNV | - | 3/23 |
20-37232009-A-G | ARHGAP40 | c.137+1287A>G | - | IntronicSNV | - | 1/14 |
14-32330260-A-C | NUBPL | c.*1874A>C | - | 3-UTRSNV | 11/11 | - |
2-136005971-G-T | ZRANB3 | c.1539+17133C>A | - | IntronicSNV | - | 12/20 |
14-78298732-C-T | ADCK1 | c.219+9871C>T | - | IntronicSNV | - | 3/10 |
1-155059851-A-T | EFNA3 | c.*832A>T | - | 3-UTRSNV | 5/5 | - |
14-32330260-A-G | NUBPL | c.*1874A>G | - | 3-UTRSNV | 11/11 | - |
2-136604210-C-T | MCM6 | c.2054-248G>A | - | IntronicSNV | - | 14/16 |
5-170296592-G-T | RANBP17 | c.18+7537G>T | - | IntronicSNV | - | 1/27 |
12-56565392-T-G | SMARCC2 | c.2185+71A>C | - | IntronicSNV | - | 21/29 |
6-109847992-G-A | AK9 | c.3633+2222C>T | - | IntronicSNV | - | 29/40 |
4-143575740-A-T | INPP4B | c.-290+71252T>A | - | intron_variant | - | 2/26 |
2-135430621-A-G | TMEM163 | c.322+40149T>C | - | IntronicSNV | - | 2/7 |
11-117618713-G-A | DSCAML1 | c.511+28793C>T | - | intron_variant | - | 3/32 |
14-51552586-T-C | TRIM9 | c.822+8250A>G | - | IntronicSNV | - | 1/9 |
2-136556480-G-A | LCT | c.4867-772C>T | - | IntronicSNV | - | 12/16 |
18-33721325-C-T | ELP2 | c.588+161C>T | - | IntronicSNV | - | 6/21 |
2-135369095-A-G | TMEM163 | c.323-59433T>C | - | IntronicSNV | - | 2/7 |
6-51746280-A-T | PKHD1 | c.7350+1611T>A | - | IntronicSNV | - | 46/66 |
6-132012886-T-G | ENPP3 | c.1285-1751T>G | - | IntronicSNV | - | 14/24 |
2-197978625-G-T | ANKRD44 | c.907-3057C>A | - | IntronicSNV | - | 8/9 |
2-136081193-G-A | ZRANB3 | c.678-8093C>T | - | IntronicSNV | - | 6/20 |
7-42084273-T-G | GLI3 | c.826+710A>C | - | IntronicSNV | - | 6/14 |
7-42084273-T-A | GLI3 | c.826+710A>T | - | IntronicSNV | - | 6/14 |
7-42084273-T-C | GLI3 | c.826+710A>G | - | IntronicSNV | - | 6/14 |
22-45398758-G-A | PHF21B | c.120+5668C>T | - | IntronicSNV | - | 2/12 |
2-135167653-T-C | MGAT5 | c.1531-2787T>C | - | IntronicSNV | - | 11/15 |
22-45398758-G-C | PHF21B | c.120+5668C>G | - | IntronicSNV | - | 2/12 |
6-137059166-T-C | MAP3K5 | c.449-17439A>G | - | IntronicSNV | - | 1/29 |
13-110413817-G-A | IRS2 | c.4013-5162C>T | - | IntronicSNV | - | 1/1 |
2-136467119-C-T | R3HDM1 | c.2458+13C>T | - | IntronicSNV | - | 21/25 |
2-136393658-A-G | R3HDM1 | c.808A>G | p.Met270Val | Missense | 11/26 | - |
2-136667896-C-T | DARS | c.1414+813G>A | - | IntronicSNV | - | 15/15 |
6-33745071-C-T | LEMD2 | c.1157-55G>A | - | IntronicSNV | - | 6/8 |
4-66452949-C-A | EPHA5 | c.910+14410G>T | - | IntronicSNV | - | 3/17 |
6-109910058-A-G | AK9 | c.1843-2783T>C | - | IntronicSNV | - | 17/40 |
1-92548348-G-A | BTBD8 | c.149+2071G>A | - | IntronicSNV | - | 1/8 |
19-6363493-T-C | CLPP | c.367+940T>C | - | IntronicSNV | - | 3/5 |
4-73351177-T-C | ADAMTS3 | c.504+63018A>G | - | IntronicSNV | - | 3/21 |
4-173739244-C-T | GALNTL6 | c.923+4370C>T | - | IntronicSNV | - | 7/12 |
2-200142591-T-C | SATB2 | c.1741-5196A>G | - | IntronicSNV | - | 11/11 |
9-129970439-A-T | RALGPS1 | c.1248-3971A>T | - | IntronicSNV | - | 14/18 |
2-136511817-A-G | UBXN4 | c.303A>G | p.Glu101Glu | Synonymous | 4/13 | - |
5-115887466-G-C | SEMA6A | c.-39+22415C>G | - | intron_variant | - | 1/18 |
4-66494645-A-T | EPHA5 | c.246+14436T>A | - | IntronicSNV | - | 2/17 |
2-136068890-C-G | ZRANB3 | c.966+2169G>C | - | IntronicSNV | - | 8/20 |
2-136702601-G-A | DARS | c.321-1551C>T | - | IntronicSNV | - | 4/15 |
20-58305084-C-T | PHACTR3 | c.119-13078C>T | - | IntronicSNV | - | 1/12 |
12-54417525-G-A | HOXC4 | c.-124+6327G>A | - | intron_variant | - | 1/3 |
7-139442176-A-G | HIPK2 | c.20-25362T>C | - | intron_variant | - | 1/14 |
5-82998981-A-T | HAPLN1 | c.-27+17627T>A | - | intron_variant | - | 1/4 |
22-35779635-T-G | HMOX1 | c.144+416T>G | - | IntronicSNV | - | 2/4 |
2-135395863-T-C | TMEM163 | c.322+74907A>G | - | IntronicSNV | - | 2/7 |
12-56629276-A-C | SLC39A5 | c.805-68A>C | - | IntronicSNV | - | 7/12 |
11-4098252-G-A | STIM1 | c.969+2343G>A | - | IntronicSNV | - | 7/11 |
10-45891189-A-G | ALOX5 | c.350-114A>G | - | IntronicSNV | - | 2/13 |
5-115887466-G-T | SEMA6A | c.-39+22415C>A | - | intron_variant | - | 1/18 |
4-66494645-A-G | EPHA5 | c.246+14436T>C | - | IntronicSNV | - | 2/17 |
2-135693537-C-G | CCNT2 | c.241-874C>G | - | IntronicSNV | - | 2/8 |
10-45799592-A-G | OR13A1 | c.279T>C | p.Ser93Ser | Synonymous | 4/4 | - |
11-35969132-C-T | LDLRAD3 | c.46+3438C>T | - | IntronicSNV | - | 1/5 |
5-169321575-A-T | DOCK2 | c.2799+53719A>T | - | IntronicSNV | - | 27/51 |
5-132107051-G-T | SEPT8 | c.30+5749C>A | - | IntronicSNV | - | 1/9 |
2-136719173-A-G | DARS | c.218-105T>C | - | IntronicSNV | - | 3/15 |
15-72885874-A-G | ARIH1 | c.*10241A>G | - | IntergenicSNV | 14/14 | - |
12-56565392-T-A | SMARCC2 | c.2185+71A>T | - | IntronicSNV | - | 21/29 |
9-35369422-A-G | UNC13B | c.1215-893A>G | - | IntronicSNV | - | 11/38 |
16-31283472-T-C | ITGAM | c.704+159T>C | - | IntronicSNV | - | 7/29 |
2-197976089-G-A | ANKRD44 | c.907-521C>T | - | IntronicSNV | - | 8/9 |
2-135436366-A-C | TMEM163 | c.322+34404T>G | - | IntronicSNV | - | 2/7 |
2-136575534-T-C | LCT | c.1084A>G | p.Ile362Val | Missense | 6/17 | - |
17-27839029-A-G | TAOK1 | c.1704+1019A>G | - | IntronicSNV | - | 15/19 |
11-117619027-C-A | DSCAML1 | c.511+28479G>T | - | intron_variant | - | 3/32 |
12-54418920-G-C | HOXC4 | c.-124+7722G>C | - | intron_variant | - | 1/3 |
16-53760532-G-A | FTO | c.45+22391G>A | - | IntronicSNV | - | 1/8 |
2-135414882-C-T | TMEM163 | c.322+55888G>A | - | IntronicSNV | - | 2/7 |
14-78043929-G-A | SPTLC2 | c.483-671C>T | - | IntronicSNV | - | 3/11 |
5-132103271-G-A | SEPT8 | c.31-2050C>T | - | IntronicSNV | - | 1/9 |
2-135956095-C-T | ZRANB3 | c.*1817G>A | - | IntergenicSNV | 21/21 | - |
5-33646823-A-C | ADAMTS12 | c.1479+2104T>G | - | IntronicSNV | - | 9/23 |
5-132103271-G-C | SEPT8 | c.31-2050C>G | - | IntronicSNV | - | 1/9 |
5-33646823-A-G | ADAMTS12 | c.1479+2104T>C | - | IntronicSNV | - | 9/23 |
3-40559078-G-A | ZNF620 | c.*724G>A | - | 3-UTRSNV | 5/5 | - |
22-23618804-G-A | BCR | c.2115+2843G>A | - | IntronicSNV | - | 8/22 |
3-40559078-G-C | ZNF620 | c.*724G>C | - | 3-UTRSNV | 5/5 | - |
5-32128179-A-G | GOLPH3 | c.473-1437T>C | - | IntronicSNV | - | 3/3 |
2-135736138-C-G | MAP3K19 | c.3920+2253G>C | - | IntronicSNV | - | 9/9 |
5-137872056-A-G | ETF1 | c.86+6466T>C | - | IntronicSNV | - | 2/10 |
2-136219999-C-T | ZRANB3 | c.161+41900G>A | - | IntronicSNV | - | 2/20 |
2-135454032-T-A | TMEM163 | c.322+16738A>T | - | IntronicSNV | - | 2/7 |
2-136561557-G-A | LCT | c.4606C>T | p.Leu1536Leu | Synonymous | 11/17 | - |
5-115167896-T-C | ATG12 | c.364-336A>G | - | IntronicSNV | - | 3/3 |
5-115167896-T-A | ATG12 | c.364-336A>T | - | IntronicSNV | - | 3/3 |
2-136072179-G-A | ZRANB3 | c.849+750C>T | - | IntronicSNV | - | 7/20 |
10-93000211-G-A | PCGF5 | c.113-30G>A | - | IntronicSNV | - | 2/9 |
1-176453688-G-A | PAPPA2 | c.-917+21134G>A | - | intron_variant | - | 1/22 |
20-7905947-T-C | HAO1 | c.289+9184A>G | - | IntronicSNV | - | 2/7 |
20-7905947-T-A | HAO1 | c.289+9184A>T | - | IntronicSNV | - | 2/7 |
12-56603834-G-C | RNF41 | c.362+247C>G | - | IntronicSNV | - | 4/6 |
7-42071698-T-C | GLI3 | c.1029-5687A>G | - | IntronicSNV | - | 7/14 |
2-135967575-G-A | ZRANB3 | c.2496-1027C>T | - | IntronicSNV | - | 17/20 |
5-14743455-G-T | ANKH | c.916-1424C>A | - | IntronicSNV | - | 7/11 |
2-136396300-T-C | R3HDM1 | c.942-9T>C | - | IntronicSNV | - | 12/25 |
2-135839805-C-T | RAB3GAP1 | c.151-8763C>T | - | IntronicSNV | - | 3/23 |
1-151699473-T-C | RIIAD1 | c.162-578T>C | - | IntronicSNV | - | 2/4 |
2-135736138-C-T | MAP3K19 | c.3920+2253G>A | - | IntronicSNV | - | 9/9 |
4-78530068-A-G | CXCL13 | c.197+1079A>G | - | IntronicSNV | - | 3/4 |
2-135439189-A-G | TMEM163 | c.322+31581T>C | - | IntronicSNV | - | 2/7 |
12-102006992-C-T | MYBPC1 | c.26-1282C>T | - | IntronicSNV | - | 1/29 |
5-132111043-G-A | SEPT8 | c.30+1757C>T | - | IntronicSNV | - | 1/9 |
1-198692364-T-C | PTPRC | c.1720+759T>C | - | IntronicSNV | - | 15/32 |
5-115885858-C-T | SEMA6A | c.-39+24023G>A | - | intron_variant | - | 1/18 |
6-33037675-C-A | HLA-DPA1 | c.101-12G>T | - | IntronicSNV | - | 1/4 |
22-33258015-T-C | TIMP3 | c.*2651T>C | - | 3-UTRSNV | 5/5 | - |
12-45100151-G-A | NELL2 | c.1190-2514C>T | - | IntronicSNV | - | 12/20 |
1-240742905-G-T | GREM2 | c.-2+32279C>A | - | intron_variant | - | 1/1 |
4-159464732-A-G | RXFP1 | c.49+21555A>G | - | IntronicSNV | - | 1/17 |
22-34178537-T-A | LARGE1 | c.1-21074A>T | - | IntronicSNV | - | 1/14 |
22-34178537-T-C | LARGE1 | c.1-21074A>G | - | IntronicSNV | - | 1/14 |
2-135984721-G-A | ZRANB3 | c.2158+661C>T | - | IntronicSNV | - | 14/20 |
6-51732598-G-A | PKHD1 | c.7733+63C>T | - | IntronicSNV | - | 48/66 |
12-71526414-T-C | TSPAN8 | c.576+59A>G | - | IntronicSNV | - | 7/8 |
2-135357203-G-C | TMEM163 | c.323-47541C>G | - | IntronicSNV | - | 2/7 |
2-136151774-C-T | ZRANB3 | c.162-3384G>A | - | IntronicSNV | - | 2/20 |
3-4461569-G-T | SUMF1 | c.602+179C>A | - | IntronicSNV | - | 4/8 |
12-79299323-C-T | SYT1 | c.-217+40434C>T | - | intron_variant | - | 1/10 |
2-135117507-T-C | MGAT5 | c.1247-2339T>C | - | IntronicSNV | - | 9/15 |
12-56726518-G-A | PAN2 | c.282+79C>T | - | IntronicSNV | - | 2/25 |
12-56726518-G-C | PAN2 | c.282+79C>G | - | IntronicSNV | - | 2/25 |
7-42072584-C-T | GLI3 | c.1029-6573G>A | - | IntronicSNV | - | 7/14 |
2-135927428-T-C | RAB3GAP1 | c.*1077T>C | - | 3-UTRSNV | 24/24 | - |
11-21537221-C-T | NELL1 | c.1646-18699C>T | - | IntronicSNV | - | 15/19 |
2-135386581-C-T | TMEM163 | c.323-76919G>A | - | IntronicSNV | - | 2/7 |
2-135909462-G-A | RAB3GAP1 | c.2061+1386G>A | - | IntronicSNV | - | 18/23 |
20-57833662-G-A | ZNF831 | c.*3864G>A | - | 3-UTRSNV | 5/5 | - |
5-132033612-C-T | KIF3A | c.2052-1238G>A | - | IntronicSNV | - | 16/16 |
22-32828343-T-G | BPIFC | c.1149+17A>C | - | IntronicSNV | - | 10/14 |
22-32828343-T-C | BPIFC | c.1149+17A>G | - | IntronicSNV | - | 10/14 |
5-14741603-G-A | ANKH | c.1011+333C>T | - | IntronicSNV | - | 8/11 |
5-132093649-T-C | SEPT8 | c.1286+2845A>G | - | IntronicSNV | - | 9/9 |
2-136247946-A-G | ZRANB3 | c.161+13953T>C | - | IntronicSNV | - | 2/20 |
2-135762429-C-G | MAP3K19 | c.235+576G>C | - | IntronicSNV | - | 3/9 |
1-161975975-G-A | OLFML2B | c.723+112C>T | - | IntronicSNV | - | 4/7 |
4-42490680-A-C | ATP8A1 | c.2152-2995T>G | - | IntronicSNV | - | 24/36 |
12-54420098-C-T | HOXC4 | c.-124+8900C>T | - | intron_variant | - | 1/3 |
6-35357974-A-G | PPARD | c.1-20891A>G | - | IntronicSNV | - | 2/7 |
2-135714156-G-A | CCNT2 | c.*1938G>A | - | 3-UTRSNV | 9/9 | - |
2-136688749-G-A | DARS | c.564+1604C>T | - | IntronicSNV | - | 7/15 |
5-170296592-G-A | RANBP17 | c.18+7537G>A | - | IntronicSNV | - | 1/27 |
2-136721995-T-C | DARS | c.218-2927A>G | - | IntronicSNV | - | 3/15 |
2-136361560-A-G | R3HDM1 | c.1-856A>G | - | IntronicSNV | - | 2/25 |
9-123675133-C-T | TRAF1 | c.705+473G>A | - | IntronicSNV | - | 5/7 |
3-10526523-C-G | ATP2B2 | c.-320+20626G>C | - | intron_variant | - | 1/19 |
2-135962711-T-C | ZRANB3 | c.3010-2178A>G | - | IntronicSNV | - | 19/20 |
21-16413658-G-C | NRIP1 | c.-458+2158C>G | - | intron_variant | - | 2/3 |
5-169284171-T-C | DOCK2 | c.2799+16315T>C | - | IntronicSNV | - | 27/51 |
6-109853446-A-G | AK9 | c.3570+1008T>C | - | IntronicSNV | - | 28/40 |
6-109853446-A-T | AK9 | c.3570+1008T>A | - | IntronicSNV | - | 28/40 |
2-136107839-G-A | ZRANB3 | c.360-54C>T | - | IntronicSNV | - | 4/20 |
2-88423510-A-G | FABP1 | c.333+503T>C | - | IntronicSNV | - | 3/3 |
2-88423510-A-T | FABP1 | c.333+503T>A | - | IntronicSNV | - | 3/3 |
7-42078947-A-G | GLI3 | c.1028+690T>C | - | IntronicSNV | - | 7/14 |
9-4733379-G-A | AK3 | c.151+7558C>T | - | IntronicSNV | - | 1/4 |
10-50339278-A-T | FAM170B | c.*380T>A | - | 3-UTRSNV | 2/2 | - |
10-50339278-A-G | FAM170B | c.*380T>C | - | 3-UTRSNV | 2/2 | - |
3-191929784-C-T | FGF12 | c.415-41339G>A | - | IntronicSNV | - | 3/4 |
17-19287476-T-G | MFAP4 | c.*299A>C | - | 3-UTRSNV | 6/6 | - |
12-71532099-G-A | TSPAN8 | c.262-89C>T | - | IntronicSNV | - | 4/8 |
2-101594858-T-C | NPAS2 | c.1482+597T>C | - | IntronicSNV | - | 15/20 |
2-135203537-A-G | MGAT5 | c.2028-2683A>G | - | IntronicSNV | - | 15/15 |
2-136228887-C-T | ZRANB3 | c.161+33012G>A | - | IntronicSNV | - | 2/20 |
4-126262415-A-G | FAT4 | c.5175+19674A>G | - | IntronicSNV | - | 1/16 |
2-136506927-A-C | UBXN4 | c.185+988A>C | - | IntronicSNV | - | 2/12 |
17-72687624-T-C | RAB37 | c.72+19827T>C | - | IntronicSNV | - | 1/8 |
2-135878814-G-A | RAB3GAP1 | c.748+326G>A | - | IntronicSNV | - | 8/23 |
2-135850778-C-T | RAB3GAP1 | c.284-407C>T | - | IntronicSNV | - | 4/23 |
2-136151412-C-T | ZRANB3 | c.162-3022G>A | - | IntronicSNV | - | 2/20 |
10-626782-G-T | DIP2C | c.86-94312C>A | - | IntronicSNV | - | 1/36 |
10-626782-G-A | DIP2C | c.86-94312C>T | - | IntronicSNV | - | 1/36 |
10-626782-G-C | DIP2C | c.86-94312C>G | - | IntronicSNV | - | 1/36 |
2-135963304-T-G | ZRANB3 | c.3009+1700A>C | - | IntronicSNV | - | 19/20 |
2-135963304-T-A | ZRANB3 | c.3009+1700A>T | - | IntronicSNV | - | 19/20 |
2-136089758-T-G | ZRANB3 | c.677+13362A>C | - | IntronicSNV | - | 6/20 |
2-136089758-T-C | ZRANB3 | c.677+13362A>G | - | IntronicSNV | - | 6/20 |
5-179580169-T-C | RASGEF1C | c.1-15117A>G | - | IntronicSNV | - | 1/13 |
2-136324225-A-G | R3HDM1 | c.-250+35022A>G | - | intron_variant | - | 1/25 |
20-37447919-A-T | PPP1R16B | c.-102+13484A>T | - | intron_variant | - | 1/10 |
5-169294776-C-A | DOCK2 | c.2799+26920C>A | - | IntronicSNV | - | 27/51 |
20-37447919-A-G | PPP1R16B | c.-102+13484A>G | - | intron_variant | - | 1/10 |
16-13316427-G-A | SHISA9 | c.895+9270G>A | - | IntronicSNV | - | 4/4 |
3-156048473-G-A | KCNAB1 | c.243-90932G>A | - | IntronicSNV | - | 1/13 |
5-169294776-C-G | DOCK2 | c.2799+26920C>G | - | IntronicSNV | - | 27/51 |
2-197122493-T-G | HECW2 | c.3419+54A>C | - | IntronicSNV | - | 18/28 |
2-136005971-G-A | ZRANB3 | c.1539+17133C>T | - | IntronicSNV | - | 12/20 |
2-198012407-G-T | ANKRD44 | c.112-578C>A | - | IntronicSNV | - | 2/9 |
2-136236631-A-G | ZRANB3 | c.161+25268T>C | - | IntronicSNV | - | 2/20 |
4-173103821-T-A | GALNTL6 | c.139-46986T>A | - | IntronicSNV | - | 2/12 |
4-173103821-T-G | GALNTL6 | c.139-46986T>G | - | IntronicSNV | - | 2/12 |
2-135814716-C-T | RAB3GAP1 | c.75-865C>T | - | IntronicSNV | - | 2/23 |
14-81570150-T-C | TSHR | c.615-4569T>C | - | IntronicSNV | - | 7/9 |
5-115892364-C-A | SEMA6A | c.-39+17517G>T | - | intron_variant | - | 1/18 |
2-175292364-T-C | SCRN3 | c.1093-77T>C | - | IntronicSNV | - | 7/7 |
2-203067503-A-G | KIAA2012 | c.*20+193A>G | - | intron_variant | - | 23/23 |
2-88424066-T-C | FABP1 | c.280A>G | p.Thr94Ala | Missense | 3/4 | - |
3-186260740-A-G | CRYGS | c.21+1355T>C | - | IntronicSNV | - | 1/2 |
2-136552188-G-A | LCT | c.5111+23C>T | - | IntronicSNV | - | 14/16 |
20-56137687-A-C | PCK1 | c.407-65A>C | - | IntronicSNV | - | 3/9 |
2-135826575-C-T | RAB3GAP1 | c.150+10919C>T | - | IntronicSNV | - | 3/23 |
2-136589278-G-A | LCT | c.720+1403C>T | - | IntronicSNV | - | 2/16 |
16-75364940-C-T | CFDP1 | c.651-25860G>A | - | IntronicSNV | - | 5/6 |
17-75428021-T-A | SEPT9 | c.667+29236T>A | - | IntronicSNV | - | 2/10 |
17-75428021-T-C | SEPT9 | c.667+29236T>C | - | IntronicSNV | - | 2/10 |
2-135219050-T-C | TMEM163 | c.668-3306A>G | - | IntronicSNV | - | 6/7 |
2-135347885-T-C | TMEM163 | c.323-38223A>G | - | IntronicSNV | - | 2/7 |
5-115885574-C-G | SEMA6A | c.-39+24307G>C | - | intron_variant | - | 1/18 |
2-135058615-C-G | MGAT5 | c.407-16485C>G | - | IntronicSNV | - | 2/15 |
5-115885574-C-A | SEMA6A | c.-39+24307G>T | - | intron_variant | - | 1/18 |
2-116273665-G-A | DPP10 | c.367-9809G>A | - | IntronicSNV | - | 4/25 |
5-32592961-G-A | SUB1 | c.195+1170G>A | - | IntronicSNV | - | 3/4 |
2-135236250-T-C | TMEM163 | c.556-12454A>G | - | IntronicSNV | - | 5/7 |
6-33749978-T-C | LEMD2 | c.854-1048A>G | - | IntronicSNV | - | 3/8 |
22-23625330-G-A | BCR | c.2116-834G>A | - | IntronicSNV | - | 8/22 |
9-34425617-G-A | FAM219A | c.61-19655C>T | - | IntronicSNV | - | 1/5 |
4-148799672-T-C | ARHGAP10 | c.833-711T>C | - | IntronicSNV | - | 8/22 |
5-170449872-C-G | RANBP17 | c.1710+54491C>G | - | IntronicSNV | - | 14/27 |
6-51709404-T-G | PKHD1 | c.8107+3169A>C | - | IntronicSNV | - | 50/66 |
1-103400314-T-C | COL11A1 | c.3145-202A>G | - | IntronicSNV | - | 43/64 |
9-35362483-G-A | UNC13B | c.1168-4461G>A | - | IntronicSNV | - | 10/38 |
17-78519122-C-T | RPTOR | c.1-308C>T | - | 5-UTRSNV | 1/34 | - |
8-141541888-C-T | AGO2 | c.*255G>A | - | 3-UTRSNV | 19/19 | - |
2-136146369-G-A | ZRANB3 | c.180+2003C>T | - | IntronicSNV | - | 3/20 |
2-115946323-A-G | DPP10 | c.61-120492A>G | - | IntronicSNV | - | 1/25 |
2-135080945-T-C | MGAT5 | c.573+4635T>C | - | IntronicSNV | - | 4/15 |
2-135080945-T-A | MGAT5 | c.573+4635T>A | - | IntronicSNV | - | 4/15 |
12-56603765-C-T | RNF41 | c.362+316G>A | - | IntronicSNV | - | 4/6 |
2-136586183-C-T | LCT | c.804+980G>A | - | IntronicSNV | - | 3/16 |
2-135204008-A-G | MGAT5 | c.2028-2212A>G | - | IntronicSNV | - | 15/15 |
7-42088222-T-C | GLI3 | c.547A>G | p.Thr183Ala | Missense | 5/15 | - |
2-136094478-C-T | ZRANB3 | c.677+8642G>A | - | IntronicSNV | - | 6/20 |
12-66245568-C-T | HMGA2 | c.249+13219C>T | - | IntronicSNV | - | 3/4 |
1-182777405-A-G | NPL | c.230+2038A>G | - | IntronicSNV | - | 5/12 |
2-133869768-T-C | NCKAP5 | c.341+17782A>G | - | IntronicSNV | - | 6/17 |
2-136159291-T-C | ZRANB3 | c.162-10901A>G | - | IntronicSNV | - | 2/20 |
6-132011994-T-A | ENPP3 | c.1285-2643T>A | - | IntronicSNV | - | 14/24 |
2-135419163-A-G | TMEM163 | c.322+51607T>C | - | IntronicSNV | - | 2/7 |
2-135127910-G-A | MGAT5 | c.1380+7931G>A | - | IntronicSNV | - | 10/15 |
6-137063271-T-C | MAP3K5 | c.449-21544A>G | - | IntronicSNV | - | 1/29 |
2-135362981-A-G | TMEM163 | c.323-53319T>C | - | IntronicSNV | - | 2/7 |
3-191939916-G-A | FGF12 | c.415-51471C>T | - | IntronicSNV | - | 3/4 |
6-109870377-A-C | AK9 | c.2964+916T>G | - | IntronicSNV | - | 25/40 |
5-169325594-G-A | DOCK2 | c.2799+57738G>A | - | IntronicSNV | - | 27/51 |
12-71531639-G-A | TSPAN8 | c.444+94C>T | - | IntronicSNV | - | 6/8 |
2-136081193-G-T | ZRANB3 | c.678-8093C>A | - | IntronicSNV | - | 6/20 |
9-130303385-G-A | FAM129B | c.56-9328C>T | - | IntronicSNV | - | 1/13 |
9-130303385-G-C | FAM129B | c.56-9328C>G | - | IntronicSNV | - | 1/13 |
1-74807337-C-A | FPGT-TNNI3K | c.1025-1189C>A | - | IntronicSNV | - | 9/26 |
7-43158219-A-C | HECW1 | c.-32+4229A>C | - | intron_variant | - | 2/29 |
14-78060031-C-T | SPTLC2 | c.327+3498G>A | - | IntronicSNV | - | 2/11 |
2-175300997-G-C | GPR155 | c.2460C>G | p.Asn820Lys | Missense | 16/16 | - |
18-6023632-A-G | L3MBTL4 | c.1471+23095T>C | - | IntronicSNV | - | 17/19 |
2-135289232-G-C | TMEM163 | c.458+18909C>G | - | IntronicSNV | - | 4/7 |
15-28415850-C-A | HERC2 | c.10058-1049G>T | - | IntronicSNV | - | 65/92 |
7-42045301-G-A | GLI3 | c.1497+17766C>T | - | IntronicSNV | - | 10/14 |
10-24593076-A-C | KIAA1217 | c.355-76722A>C | - | IntronicSNV | - | 2/20 |
22-33258015-T-G | TIMP3 | c.*2651T>G | - | 3-UTRSNV | 5/5 | - |
2-135816439-A-G | RAB3GAP1 | c.150+783A>G | - | IntronicSNV | - | 3/23 |
2-136335397-A-G | R3HDM1 | c.1-27019A>G | - | IntronicSNV | - | 1/25 |
6-109954252-C-T | AK9 | c.1128G>A | p.Leu376Leu | Synonymous | 12/41 | - |
5-14745357-A-G | ANKH | c.915+622T>C | - | IntronicSNV | - | 7/11 |
10-24593076-A-T | KIAA1217 | c.355-76722A>T | - | IntronicSNV | - | 2/20 |
2-136720176-A-C | DARS | c.218-1108T>G | - | IntronicSNV | - | 3/15 |
2-73651967-C-A | ALMS1 | c.1177C>A | - | missense_variant | 5/23 | - |
1-53260123-A-G | ZYG11B | c.1335-1841A>G | - | IntronicSNV | - | 6/13 |
20-17578239-C-T | DSTN | c.1-3192C>T | - | IntronicSNV | - | 2/4 |
2-73651967-C-T | ALMS1 | c.1177C>T | - | missense_variant | 5/23 | - |
15-28425771-G-T | HERC2 | c.8938-1402C>A | - | IntronicSNV | - | 57/92 |
2-135691725-A-G | CCNT2 | c.241-2686A>G | - | IntronicSNV | - | 2/8 |
3-191989376-C-T | FGF12 | c.414+63774G>A | - | IntronicSNV | - | 3/4 |
15-48043458-T-C | SEMA6D | c.1-8538T>C | - | IntronicSNV | - | 1/12 |
10-49719154-C-T | ARHGAP22 | c.323-31347G>A | - | IntronicSNV | - | 3/9 |
10-95164206-T-C | MYOF | c.730-230A>G | - | IntronicSNV | - | 7/53 |
2-136187252-T-A | ZRANB3 | c.162-38862A>T | - | IntronicSNV | - | 2/20 |
5-169309080-C-T | DOCK2 | c.2799+41224C>T | - | IntronicSNV | - | 27/51 |
2-136293257-G-A | R3HDM1 | c.-250+4054G>A | - | intron_variant | - | 1/25 |
2-136069060-C-T | ZRANB3 | c.966+1999G>A | - | IntronicSNV | - | 8/20 |
2-136069060-C-A | ZRANB3 | c.966+1999G>T | - | IntronicSNV | - | 8/20 |
2-136187252-T-C | ZRANB3 | c.162-38862A>G | - | IntronicSNV | - | 2/20 |
7-42038184-A-G | GLI3 | c.1498-19837T>C | - | IntronicSNV | - | 10/14 |
2-135471748-T-C | TMEM163 | c.203-859A>G | - | IntronicSNV | - | 1/7 |
2-136038353-C-T | ZRANB3 | c.967-5028G>A | - | IntronicSNV | - | 8/20 |
5-115859730-A-T | SEMA6A | c.1-19090T>A | - | IntronicSNV | - | 1/18 |
5-115885672-G-A | SEMA6A | c.-39+24209C>T | - | intron_variant | - | 1/18 |
7-42090528-C-A | GLI3 | c.474-2233G>T | - | IntronicSNV | - | 4/14 |
2-135361035-G-A | TMEM163 | c.323-51373C>T | - | IntronicSNV | - | 2/7 |
8-39088049-T-C | ADAM32 | c.1526-1497T>C | - | IntronicSNV | - | 14/24 |
7-42090528-C-T | GLI3 | c.474-2233G>A | - | IntronicSNV | - | 4/14 |
5-139060486-G-A | CXXC5 | c.378G>A | p.Ala126Ala | Synonymous | 2/3 | - |
9-129783116-T-C | RALGPS1 | c.217-13594T>C | - | IntronicSNV | - | 4/18 |
5-169290353-G-A | DOCK2 | c.2799+22497G>A | - | IntronicSNV | - | 27/51 |