Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
13-99994030-A-G | UBAC2 | c.702+1211A>G | - | IntronicSNV | - | 5/6 |
2-47788372-C-T | KCNK12 | c.391+8708G>A | - | IntronicSNV | - | 1/1 |
1-160463406-A-G | SLAMF6 | c.383-2228T>C | - | IntronicSNV | - | 2/7 |
7-22343114-G-A | RAPGEF5 | c.680+4844C>T | - | intron_variant | - | 5/25 |
12-96315487-C-T | CCDC38 | c.38-2733G>A | - | IntronicSNV | - | 2/15 |
6-21088082-C-T | CDKAL1 | c.1237-20550C>T | - | IntronicSNV | - | 12/15 |
14-90643934-G-A | KCNK13 | c.335-6521G>A | - | IntronicSNV | - | 1/1 |
8-23103208-T-A | CHMP7 | c.1-1001T>A | - | IntronicSNV | - | 1/10 |
8-23103208-T-G | CHMP7 | c.1-1001T>G | - | IntronicSNV | - | 1/10 |
6-33647594-C-G | ITPR3 | c.3973-65C>G | - | IntronicSNV | - | 30/57 |
16-82681844-C-G | CDH13 | c.45+21102C>G | - | IntronicSNV | - | 1/13 |
7-51143605-T-C | COBL | c.1096+9258A>G | - | IntronicSNV | - | 7/12 |
12-113862930-G-T | SDSL | c.-143-2005G>T | - | intron_variant | - | 1/8 |
12-113862930-G-A | SDSL | c.-143-2005G>A | - | intron_variant | - | 1/8 |
18-44140786-T-C | LOXHD1 | c.2599-278A>G | - | IntronicSNV | - | 18/39 |
20-44051444-G-C | PIGT | c.1234+1221G>C | - | IntronicSNV | - | 9/11 |
12-47600843-C-T | PCED1B | c.-525-9162C>T | - | intron_variant | - | 2/3 |
16-19085298-C-T | COQ7 | c.308C>T | p.Thr103Met | Missense | 3/6 | - |
16-19085298-C-A | COQ7 | c.308C>A | p.Thr103Lys | Missense | 3/6 | - |
5-149532107-T-C | PDGFRB | c.-7+2853A>G | - | intron_variant | - | 1/22 |
16-82188173-C-A | MPHOSPH6 | c.165-3054G>T | - | IntronicSNV | - | 2/4 |
10-27694764-T-C | PTCHD3 | c.1212-2478A>G | - | IntronicSNV | - | 2/3 |
17-40294025-T-A | RAB5C | c.1-11505A>T | - | IntronicSNV | - | 1/5 |
2-238893362-T-C | UBE2F | c.119-3243T>C | - | IntronicSNV | - | 2/9 |
9-139403770-G-A | NOTCH1 | c.2970-247C>T | - | IntronicSNV | - | 18/33 |
11-36469758-C-T | PRR5L | c.585+1768C>T | - | IntronicSNV | - | 8/9 |
19-18418044-T-C | LSM4 | c.*230A>G | - | 3-UTRSNV | 4/4 | - |
10-50082108-C-T | WDFY4 | c.6948+366C>T | - | IntronicSNV | - | 41/61 |
16-82719836-T-C | CDH13 | c.45+59094T>C | - | IntronicSNV | - | 1/13 |
1-155677223-A-G | DAP3 | c.1-2348A>G | - | IntronicSNV | - | 1/12 |
18-44230940-A-G | LOXHD1 | c.131-1708T>C | - | IntronicSNV | - | 1/39 |
19-3414020-T-C | NFIC | c.563-11084T>C | - | IntronicSNV | - | 2/8 |
4-7685529-G-A | SORCS2 | c.1488+913G>A | - | IntronicSNV | - | 10/26 |
10-117302740-C-T | ATRNL1 | c.3717-6228C>T | - | IntronicSNV | - | 25/28 |
10-117302740-C-A | ATRNL1 | c.3717-6228C>A | - | IntronicSNV | - | 25/28 |
4-88732911-C-T | IBSP | c.803C>T | p.Ala268Val | Missense | 7/7 | - |
15-61451622-T-C | RORA | c.166+69630A>G | - | IntronicSNV | - | 1/10 |
15-50223697-T-C | ATP8B4 | c.1454-193A>G | - | IntronicSNV | - | 15/27 |
11-100749140-C-T | ARHGAP42 | c.384+18784C>T | - | IntronicSNV | - | 4/23 |
11-100749140-C-A | ARHGAP42 | c.384+18784C>A | - | IntronicSNV | - | 4/23 |
19-1124031-G-A | SBNO2 | c.442-10C>T | - | IntronicSNV | - | 5/31 |
20-36466571-G-C | CTNNBL1 | c.1214-1933G>C | - | IntronicSNV | - | 11/15 |
18-61582867-A-G | SERPINB10 | c.123A>G | p.Ile41Met | Missense | 2/8 | - |
15-60715643-C-T | ICE2 | c.*190G>A | - | 3-UTRSNV | 16/16 | - |
13-111030578-A-G | COL4A2 | c.180+20679A>G | - | IntronicSNV | - | 4/47 |
8-23055729-A-G | TNFRSF10A | c.1015-1012T>C | - | IntronicSNV | - | 8/9 |
15-59799278-T-G | FAM81A | c.414-134T>G | - | IntronicSNV | - | 4/8 |
15-59799278-T-C | FAM81A | c.414-134T>C | - | IntronicSNV | - | 4/8 |
15-59799278-T-A | FAM81A | c.414-134T>A | - | IntronicSNV | - | 4/8 |
4-8062202-G-A | ABLIM2 | c.763+492C>T | - | IntronicSNV | - | 7/20 |
20-36497644-G-A | CTNNBL1 | c.1604-2683G>A | - | IntronicSNV | - | 15/15 |
3-32388001-T-C | CMTM8 | c.148-10864T>C | - | IntronicSNV | - | 1/3 |
1-112080120-T-C | TMIGD3 | c.107+26348A>G | - | IntronicSNV | - | 1/5 |
4-75879796-G-T | PARM1 | c.43+21216G>T | - | IntronicSNV | - | 1/3 |
18-67323641-A-C | DOK6 | c.290-21329A>C | - | IntronicSNV | - | 3/7 |
2-191321797-G-A | MFSD6 | c.1533-12687G>A | - | IntronicSNV | - | 3/7 |
7-132294607-C-T | PLXNA4 | c.-87+36080G>A | - | intron_variant | - | 2/4 |
1-154789036-C-T | KCNN3 | c.1029+5529G>A | - | IntronicSNV | - | 2/7 |
11-86013361-A-G | HIKESHI | c.1-130A>G | - | 5-UTRSNV | 1/5 | - |
10-102541820-T-C | PAX2 | c.616+698T>C | - | IntronicSNV | - | 5/9 |
18-47403911-T-C | MYO5B | c.3396+222A>G | - | IntronicSNV | - | 25/39 |
8-22463169-T-C | CCAR2 | c.1-118T>C | - | IntronicSNV | 1/21 | - |
18-43617872-C-T | PSTPIP2 | c.134+2041G>A | - | IntronicSNV | - | 2/14 |
11-44306882-C-T | ALX4 | c.467-9674G>A | - | IntronicSNV | - | 1/3 |
14-90509564-C-T | TDP1 | c.*77C>T | - | 3-UTRSNV | 17/17 | - |
4-8455245-G-C | TRMT44 | c.1131+529G>C | - | IntronicSNV | - | 5/10 |
5-132801509-A-G | FSTL4 | c.161-64831T>C | - | IntronicSNV | - | 3/15 |
11-36154122-G-A | LDLRAD3 | c.454+34111G>A | - | IntronicSNV | - | 4/5 |
8-23107578-G-C | CHMP7 | c.471+684G>C | - | IntronicSNV | - | 3/10 |
8-23107578-G-A | CHMP7 | c.471+684G>A | - | IntronicSNV | - | 3/10 |
3-2284224-G-A | CNTN4 | c.-145+3472G>A | - | intron_variant | - | 1/23 |
8-27594779-T-C | CCDC25 | c.598-1017A>G | - | IntronicSNV | - | 8/8 |
12-69154005-A-G | SLC35E3 | c.755+986A>G | - | IntronicSNV | - | 4/4 |
9-138389740-G-A | C9orf116 | c.222+691C>T | - | IntronicSNV | - | 2/2 |
15-60873327-A-G | RORA | c.197-49277T>C | - | IntronicSNV | - | 2/10 |
14-90441143-A-G | TDP1 | c.757-982A>G | - | IntronicSNV | - | 6/16 |
22-36679058-T-C | MYH9 | c.5766-227A>G | - | IntronicSNV | - | 40/40 |
10-5820394-T-C | GDI2 | c.720-4490A>G | - | IntronicSNV | - | 6/10 |
6-28331252-A-G | ZKSCAN3 | c.633+90A>G | - | IntronicSNV | - | 4/5 |
6-28331252-A-C | ZKSCAN3 | c.633+90A>C | - | IntronicSNV | - | 4/5 |
18-76867095-A-G | ATP9B | c.294-3260A>G | - | IntronicSNV | - | 2/29 |
2-61482261-G-A | USP34 | c.6221+1258C>T | - | IntronicSNV | - | 48/79 |
6-106674850-G-A | ATG5 | c.573+21175C>T | - | IntronicSNV | - | 6/7 |
6-106674850-G-C | ATG5 | c.573+21175C>G | - | IntronicSNV | - | 6/7 |
13-93022401-G-A | GPC5 | c.1561+225159G>A | - | IntronicSNV | - | 7/7 |
5-149143963-G-A | PPARGC1B | c.78+33980G>A | - | IntronicSNV | - | 1/11 |
4-7597712-G-A | SORCS2 | c.649-42343G>A | - | IntronicSNV | - | 3/26 |
15-61036550-A-G | RORA | c.167-65665T>C | - | IntronicSNV | - | 1/10 |
2-84921433-A-G | DNAH6 | c.7353A>G | p.Thr2451Thr | Synonymous | 46/77 | - |
15-91821157-G-A | SV2B | c.1374-3801G>A | - | IntronicSNV | - | 10/13 |
12-10131865-T-C | CLEC12A | c.191-70T>C | - | IntronicSNV | - | 2/5 |
19-17773433-C-T | UNC13A | c.559+908G>A | - | IntronicSNV | - | 8/43 |
19-17660300-G-A | FAM129C | c.1807G>A | p.Gly603Ser | Missense | 15/16 | - |
19-17660300-G-C | FAM129C | c.1807G>C | p.Gly603Arg | Missense | 15/16 | - |
14-32318537-G-A | NUBPL | c.815-788G>A | - | IntronicSNV | - | 9/10 |
14-20895646-T-C | KLHL33 | c.*1362A>G | - | IntergenicSNV | 4/4 | - |
4-8466827-C-A | TRMT44 | c.1311-278C>A | - | IntronicSNV | - | 7/10 |
4-8407406-T-C | ACOX3 | c.776+276A>G | - | IntronicSNV | - | 7/16 |
5-132885741-T-C | FSTL4 | c.160+17136A>G | - | IntronicSNV | - | 3/15 |
15-49065689-T-C | CEP152 | c.1578-801A>G | - | IntronicSNV | - | 12/25 |
13-20328143-C-A | PSPC1 | c.771-2536G>T | - | IntronicSNV | - | 4/9 |
1-112356676-G-A | KCND3 | c.1107-26948C>T | - | IntronicSNV | - | 2/6 |
5-149462009-A-G | CSF1R | c.50-1422T>C | - | IntronicSNV | - | 2/21 |
11-120118498-C-T | POU2F3 | c.103+1272C>T | - | IntronicSNV | - | 2/12 |
11-134009860-T-C | JAM3 | c.142+49T>C | - | IntronicSNV | - | 2/8 |
11-120118498-C-A | POU2F3 | c.103+1272C>A | - | IntronicSNV | - | 2/12 |
7-92018459-A-C | ANKIB1 | c.1907-826A>C | - | IntronicSNV | - | 14/19 |
7-92018459-A-G | ANKIB1 | c.1907-826A>G | - | IntronicSNV | - | 14/19 |
22-21982892-C-T | YDJC | c.787G>A | p.Ala263Thr | Missense | 5/5 | - |
5-148572625-T-C | ABLIM3 | c.152-5157T>C | - | IntronicSNV | - | 3/23 |
7-91922541-T-C | ANKIB1 | c.1-1752T>C | - | IntronicSNV | - | 1/19 |
5-149575123-C-T | SLC6A7 | c.217+649C>T | - | IntronicSNV | - | 2/13 |
6-33697125-A-G | IP6K3 | c.200-1048T>C | - | IntronicSNV | - | 2/5 |
1-234267604-A-G | SLC35F3 | c.284-99559A>G | - | IntronicSNV | - | 2/7 |
17-74014668-T-A | EVPL | c.1298A>T | p.Gln433Leu | Missense | 12/22 | - |
15-62313373-G-A | VPS13C | c.496-636C>T | - | IntronicSNV | - | 6/82 |
10-100614789-G-C | HPSE2 | c.611-110976C>G | - | IntronicSNV | - | 3/11 |
10-100614789-G-A | HPSE2 | c.611-110976C>T | - | IntronicSNV | - | 3/11 |
22-26925953-G-A | TPST2 | c.1093-1725C>T | - | IntronicSNV | - | 5/6 |
6-105749923-G-T | PREP | c.1318-13154C>A | - | IntronicSNV | - | 10/14 |
10-105546851-A-G | SH3PXD2A | c.153+14189T>C | - | IntronicSNV | - | 2/13 |
3-118747851-C-A | IGSF11 | c.52+5527G>T | - | IntronicSNV | - | 1/6 |
8-23004629-T-C | TNFRSF10D | c.371-44A>G | - | IntronicSNV | - | 3/8 |
2-46093760-G-A | PRKCE | c.412+23558G>A | - | IntronicSNV | - | 2/14 |
8-23004629-T-G | TNFRSF10D | c.371-44A>C | - | IntronicSNV | - | 3/8 |
15-61103590-A-T | RORA | c.167-132705T>A | - | IntronicSNV | - | 1/10 |
10-73291166-A-G | CDH23 | c.429+20197A>G | - | IntronicSNV | - | 6/13 |
4-183412634-A-C | TENM3 | c.512-109443A>C | - | IntronicSNV | - | 3/27 |
1-57501277-C-G | DAB1 | c.724-9561G>C | - | IntronicSNV | - | 11/16 |
6-41547312-T-C | FOXP4 | c.300+1493T>C | - | IntronicSNV | - | 3/16 |
4-8390646-A-G | ACOX3 | c.1537+254T>C | - | IntronicSNV | - | 13/16 |
2-85059063-G-T | TRABD2A | c.935+116C>A | - | IntronicSNV | - | 4/5 |
6-35855286-A-G | SRPK1 | c.390+515T>C | - | IntronicSNV | - | 5/15 |
15-62319307-T-G | VPS13C | c.386-3588A>C | - | IntronicSNV | - | 5/82 |
1-111860025-G-T | CHIA | c.1-281G>T | - | IntronicSNV | - | 2/9 |
2-47754445-T-C | KCNK12 | c.392-5498A>G | - | IntronicSNV | - | 1/1 |
10-76666799-C-T | KAT6B | c.622-52929C>T | - | IntronicSNV | - | 3/17 |
12-113748702-C-T | SLC8B1 | c.1136-542G>A | - | IntronicSNV | - | 11/15 |
15-67428334-T-C | SMAD3 | c.207-28899T>C | - | IntronicSNV | - | 1/8 |
4-8397686-A-G | ACOX3 | c.1056+978T>C | - | IntronicSNV | - | 9/16 |
12-10126427-A-T | CLEC12A | c.91+2141A>T | - | IntronicSNV | - | 1/5 |
15-67467541-T-C | SMAD3 | c.658+4599T>C | - | IntronicSNV | - | 5/8 |
5-132703700-A-G | FSTL4 | c.409+32730T>C | - | IntronicSNV | - | 4/15 |
2-176012621-C-T | ATF2 | c.-44+3167G>A | - | intron_variant | - | 2/13 |
10-5997820-C-T | IL15RA | c.692+522G>A | - | IntronicSNV | - | 6/6 |
7-23736510-C-G | FAM221A | c.638-1301C>G | - | IntronicSNV | - | 4/6 |
22-38518731-C-T | PLA2G6 | c.1429+371G>A | - | IntronicSNV | - | 10/15 |
10-7235805-C-T | SFMBT2 | c.1698+3705G>A | - | IntronicSNV | - | 15/20 |
22-26421793-A-G | MYO18B | c.6471-618A>G | - | IntronicSNV | - | 42/43 |
21-32929573-T-G | TIAM1 | c.-422+1667A>C | - | intron_variant | - | 1/28 |
6-28330264-A-G | ZKSCAN3 | c.551-816A>G | - | IntronicSNV | - | 3/5 |
11-10655623-C-T | MRVI1 | c.199-5G>A | - | IntronicSNV | - | 1/19 |
3-124646837-G-A | MUC13 | c.53C>T | p.Ala18Val | Missense | 2/12 | - |
3-124646837-G-C | MUC13 | c.53C>G | p.Ala18Gly | Missense | 2/12 | - |
6-151144242-A-G | PLEKHG1 | c.1448-548A>G | - | IntronicSNV | - | 14/16 |
19-18080991-G-A | KCNN1 | c.1-3707G>A | - | IntronicSNV | - | 2/10 |
10-71985733-G-T | PPA1 | c.123+4364C>A | - | IntronicSNV | - | 2/10 |
10-71985733-G-A | PPA1 | c.123+4364C>T | - | IntronicSNV | - | 2/10 |
6-53202035-T-C | ELOVL5 | c.-9+11580A>G | - | intron_variant | - | 1/7 |
15-91791639-C-T | SV2B | c.452-3410C>T | - | IntronicSNV | - | 3/13 |
14-68217051-C-T | ZFYVE26 | c.7416+718G>A | - | IntronicSNV | - | 41/41 |
2-102064595-A-G | RFX8 | c.72+18644T>C | - | IntronicSNV | - | 2/11 |
11-11574030-C-T | GALNT18 | c.235+68876G>A | - | IntronicSNV | - | 1/10 |
8-23118155-T-C | CHMP7 | c.*43T>C | - | 3-UTRSNV | 11/11 | - |
5-149535255-G-A | PDGFRB | c.-302C>T | - | 5_prime_UTR_variant | 1/23 | - |
3-119130120-T-C | ARHGAP31 | c.1926+1497T>C | - | IntronicSNV | - | 11/11 |
18-55929965-T-A | NEDD4L | c.-67+10679T>A | - | intron_variant | - | 5/30 |
6-33382288-G-A | PHF1 | c.911G>A | p.Arg304Lys | Missense | 10/14 | - |
18-43643435-A-C | PSTPIP2 | c.33+8687T>G | - | IntronicSNV | - | 1/14 |
8-11611743-G-T | GATA4 | c.910-812G>T | - | IntronicSNV | - | 4/6 |
18-55929965-T-C | NEDD4L | c.-67+10679T>C | - | intron_variant | - | 5/30 |
14-34232772-C-T | NPAS3 | c.853-10771C>T | - | IntronicSNV | - | 7/11 |
7-12400837-G-A | VWDE | c.3095C>T | p.Thr1032Met | Missense | 15/29 | - |
19-3586471-A-G | GIPC3 | c.226-22A>G | - | IntronicSNV | - | 1/5 |
2-191378170-C-T | NEMP2 | c.953+1009G>A | - | IntronicSNV | - | 7/8 |
1-114489689-T-C | HIPK1 | c.1076+5608T>C | - | IntronicSNV | - | 2/15 |
16-1867040-T-C | HAGH | c.646-45A>G | - | IntronicSNV | - | 6/8 |
18-10477604-T-C | APCDD1 | c.774+5546T>C | - | IntronicSNV | - | 3/4 |
14-21569490-G-A | TMEM253 | c.1-13G>A | - | 5-UTRSNV | - | 1/7 |
6-36065185-T-C | MAPK14 | c.683-2780T>C | - | IntronicSNV | - | 8/11 |
6-36065185-T-A | MAPK14 | c.683-2780T>A | - | IntronicSNV | - | 8/11 |
10-71897998-C-T | TYSND1 | c.*1682G>A | - | 3-UTRSNV | 4/4 | - |
5-31900372-G-A | PDZD2 | c.477-82889G>A | - | IntronicSNV | - | 2/24 |
3-71164178-T-C | FOXP1 | c.181-2390A>G | - | IntronicSNV | - | 6/20 |
16-57095775-C-T | NLRC5 | c.4154+162C>T | - | IntronicSNV | - | 31/47 |
1-112032205-C-T | TMIGD3 | c.215-559G>A | - | IntronicSNV | - | 2/5 |
5-149636073-T-G | CAMK2A | c.411+63A>C | - | IntronicSNV | - | 6/18 |
13-21194948-G-A | IFT88 | c.1199+4930G>A | - | IntronicSNV | - | 14/25 |
8-23000183-T-C | TNFRSF10D | c.954+1780A>G | - | IntronicSNV | - | 7/8 |
6-36722889-T-C | CPNE5 | c.909+1133A>G | - | IntronicSNV | - | 13/20 |
16-67911517-T-C | EDC4 | c.747T>C | p.Cys249Cys | Synonymous | 6/29 | - |
20-36783599-T-A | TGM2 | c.433+650A>T | - | IntronicSNV | - | 3/9 |
1-167052988-G-A | GPA33 | c.43+6494C>T | - | IntronicSNV | - | 1/6 |
20-36783599-T-G | TGM2 | c.433+650A>C | - | IntronicSNV | - | 3/9 |
16-27346354-T-C | IL4R | c.-19+4835T>C | - | intron_variant | - | 2/10 |
15-60746605-G-A | ICE2 | c.943+597C>T | - | IntronicSNV | - | 8/15 |
6-75829373-G-T | COL12A1 | c.7087-184C>A | - | IntronicSNV | - | 44/65 |
4-7423842-G-T | SORCS2 | c.548+25760G>T | - | IntronicSNV | - | 2/26 |
4-7423842-G-A | SORCS2 | c.548+25760G>A | - | IntronicSNV | - | 2/26 |
2-103009537-C-T | IL18R1 | c.1112-1392C>T | - | IntronicSNV | - | 9/10 |
2-84657404-C-T | SUCLG1 | c.825+1228G>A | - | IntronicSNV | - | 7/8 |
16-27346354-T-G | IL4R | c.-19+4835T>G | - | intron_variant | - | 2/10 |
14-23854324-A-G | MYH6 | c.5164-74T>C | - | IntronicSNV | - | 34/38 |
2-103009537-C-A | IL18R1 | c.1112-1392C>A | - | IntronicSNV | - | 9/10 |
13-39295623-A-G | FREM2 | c.5263+23699A>G | - | IntronicSNV | - | 2/23 |
4-123840064-G-A | NUDT6 | c.239-1205C>T | - | IntronicSNV | - | 1/4 |
2-84834592-C-T | DNAH6 | c.3294+373C>T | - | IntronicSNV | - | 21/76 |
5-132560150-C-G | FSTL4 | c.1313-242G>C | - | IntronicSNV | - | 10/15 |
16-27346354-T-A | IL4R | c.-19+4835T>A | - | intron_variant | - | 2/10 |
15-44223187-A-G | FRMD5 | c.103-6680T>C | - | IntronicSNV | - | 1/13 |
12-94653227-T-C | PLXNC1 | c.3126+76T>C | - | IntronicSNV | - | 18/30 |
15-61109873-C-A | RORA | c.167-138988G>T | - | IntronicSNV | - | 1/10 |
2-3732546-T-C | ALLC | c.511+1882T>C | - | IntronicSNV | - | 7/11 |
7-111785581-C-T | DOCK4 | c.37+60576G>A | - | IntronicSNV | - | 1/51 |
1-154791128-G-A | KCNN3 | c.1029+3437C>T | - | IntronicSNV | - | 2/7 |
10-7280550-T-C | SFMBT2 | c.1120+4970A>G | - | IntronicSNV | - | 9/20 |
17-46319852-C-T | SKAP1 | c.281-52990G>A | - | IntronicSNV | - | 4/12 |
19-18107913-C-T | KCNN1 | c.1378-1048C>T | - | IntronicSNV | - | 10/10 |
19-17193551-A-T | MYO9B | c.-59+6867A>T | - | intron_variant | - | 1/39 |
12-27498107-A-G | ARNTL2 | c.31+12071A>G | - | IntronicSNV | - | 1/16 |
2-85062075-T-G | TRABD2A | c.845-2806A>C | - | IntronicSNV | - | 3/5 |
19-18107913-C-G | KCNN1 | c.1378-1048C>G | - | IntronicSNV | - | 10/10 |
8-4613200-T-C | CSMD1 | c.86-118120A>G | - | IntronicSNV | - | 1/69 |
8-4613200-T-A | CSMD1 | c.86-118120A>T | - | IntronicSNV | - | 1/69 |
8-56227317-C-T | XKR4 | c.807-42921C>T | - | IntronicSNV | - | 1/2 |
2-206236189-G-A | PARD3B | c.2424-29548G>A | - | IntronicSNV | - | 17/21 |
1-22216279-C-A | HSPG2 | c.574+195G>T | - | IntronicSNV | - | 6/96 |
5-148559909-T-C | ABLIM3 | c.14-3106T>C | - | IntronicSNV | - | 2/23 |
1-22216279-C-T | HSPG2 | c.574+195G>A | - | IntronicSNV | - | 6/96 |
13-100816862-A-G | PCCA | c.468+7268A>G | - | IntronicSNV | - | 6/23 |
15-91761568-T-A | SV2B | c.1-7926T>A | - | IntronicSNV | - | 2/13 |
1-198285011-G-A | NEK7 | c.799-3531G>A | - | IntronicSNV | - | 9/9 |
3-2283621-G-T | CNTN4 | c.-145+2869G>T | - | intron_variant | - | 1/23 |
15-91761568-T-C | SV2B | c.1-7926T>C | - | IntronicSNV | - | 2/13 |
1-154712358-A-C | KCNN3 | c.1449-6738T>G | - | IntronicSNV | - | 3/7 |
3-111993915-A-G | SLC9C1 | c.485-43T>C | - | IntronicSNV | - | 5/28 |
7-138642602-T-C | KIAA1549 | c.187+23227A>G | - | IntronicSNV | - | 1/19 |
1-10371854-A-G | KIF1B | c.1978-8247A>G | - | IntronicSNV | - | 20/46 |
21-38311993-C-T | HLCS | c.1-810G>A | - | IntronicSNV | - | 3/11 |
21-38311993-C-G | HLCS | c.1-810G>C | - | IntronicSNV | - | 3/11 |
4-6961673-C-T | TBC1D14 | c.723-7358C>T | - | IntronicSNV | - | 2/13 |
8-22571018-A-G | PEBP4 | c.549T>C | p.Arg183Arg | Synonymous | 7/7 | - |
4-164417245-G-A | TMA16 | c.3+1289G>A | - | IntronicSNV | - | 1/6 |
4-142565089-T-C | IL15 | c.-624+7188T>C | - | intron_variant | - | 1/9 |
2-84808483-T-C | DNAH6 | c.2229+1680T>C | - | IntronicSNV | - | 14/76 |
5-148587553-T-C | ABLIM3 | c.575+856T>C | - | IntronicSNV | - | 6/23 |
10-100466048-C-T | HPSE2 | c.957-12344G>A | - | IntronicSNV | - | 5/11 |
4-164417245-G-T | TMA16 | c.3+1289G>T | - | IntronicSNV | - | 1/6 |
2-45950270-T-C | PRKCE | c.348+70683T>C | - | IntronicSNV | - | 1/14 |
14-23237593-G-A | OXA1L | c.439+213G>A | - | intron_variant | - | 3/9 |
6-97494958-C-T | KLHL32 | c.312+5483C>T | - | IntronicSNV | - | 4/10 |
17-40294025-T-C | RAB5C | c.1-11505A>G | - | IntronicSNV | - | 1/5 |
14-80170870-A-C | NRXN3 | c.999+6590A>C | - | IntronicSNV | - | 5/6 |
14-80170870-A-G | NRXN3 | c.999+6590A>G | - | IntronicSNV | - | 5/6 |
4-142565089-T-A | IL15 | c.-624+7188T>A | - | intron_variant | - | 1/9 |
14-91752509-T-G | CCDC88C | c.4442-2648A>C | - | IntronicSNV | - | 25/29 |
2-220505265-T-C | SLC4A3 | c.3391T>C | p.Leu1131Leu | Synonymous | 21/23 | - |
2-220505265-T-A | SLC4A3 | c.3391T>A | p.Leu1131Met | Missense | 21/23 | - |
2-220505265-T-G | SLC4A3 | c.3391T>G | p.Leu1131Val | Missense | 21/23 | - |
10-7265468-T-A | SFMBT2 | c.1204-2969A>T | - | IntronicSNV | - | 10/20 |
22-27021425-A-G | CRYBA4 | c.159-20A>G | - | IntronicSNV | - | 3/5 |
22-27021425-A-T | CRYBA4 | c.159-20A>T | - | IntronicSNV | - | 3/5 |
10-71978144-A-G | PPA1 | c.177+376T>C | - | IntronicSNV | - | 3/10 |
11-35529656-T-G | PAMR1 | c.74-13836A>C | - | IntronicSNV | - | 1/11 |
11-35529656-T-C | PAMR1 | c.74-13836A>G | - | IntronicSNV | - | 1/11 |
1-154688197-C-T | KCNN3 | c.1702-718G>A | - | IntronicSNV | - | 5/7 |
21-40182177-T-C | ETS2 | c.492+147T>C | - | IntronicSNV | - | 3/10 |
1-206629674-A-T | SRGAP2 | c.2250+1304A>T | - | intron_variant | - | 18/19 |
2-84743984-C-A | DNAH6 | c.-9+277C>A | - | intron_variant | - | 1/76 |
3-15746937-G-A | ANKRD28 | c.1457+2494C>T | - | IntronicSNV | - | 14/27 |
8-10464206-G-A | RP1L1 | c.*199C>T | - | 3-UTRSNV | 4/4 | - |
12-772458-C-T | NINJ2 | c.33+36G>A | - | intron_variant | - | 1/3 |
1-2993638-G-A | PRDM16 | c.37+7778G>A | - | IntronicSNV | - | 1/16 |
1-155810293-T-C | GON4L | c.505+12774A>G | - | IntronicSNV | - | 2/20 |
15-61164920-G-A | RORA | c.167-194035C>T | - | IntronicSNV | - | 1/10 |
5-148909077-G-A | CSNK1A1 | c.231-4343C>T | - | IntronicSNV | - | 2/9 |
5-132561277-G-C | FSTL4 | c.1177+73C>G | - | IntronicSNV | - | 9/15 |
4-123774832-G-A | FGF2 | c.578-22644G>A | - | IntronicSNV | - | 1/2 |
5-132929702-G-A | FSTL4 | c.126+9847C>T | - | IntronicSNV | - | 2/15 |
6-132690239-A-G | MOXD1 | c.663+3508T>C | - | IntronicSNV | - | 4/11 |
14-37413024-A-G | SLC25A21 | c.71-68815T>C | - | IntronicSNV | - | 1/9 |
7-23720720-T-G | FAM221A | c.65+818T>G | - | IntronicSNV | - | 1/6 |
8-22617365-G-A | PEBP4 | c.358-32632C>T | - | IntronicSNV | - | 4/6 |
19-17393015-C-T | ANKLE1 | c.212C>T | - | missense_variant | 2/9 | - |
19-17393015-C-G | ANKLE1 | c.212C>G | - | missense_variant | 2/9 | - |
2-63596836-A-G | WDPCP | c.1748+8685T>C | - | IntronicSNV | - | 12/17 |
5-22397625-G-T | CDH12 | c.-333+7741C>A | - | intron_variant | - | 3/14 |
10-73097953-G-A | SLC29A3 | c.301-6013G>A | - | IntronicSNV | - | 2/5 |
17-77192231-C-T | RBFOX3 | c.-34+39617G>A | - | intron_variant | - | 4/14 |
8-23007178-G-A | TNFRSF10D | c.257-1114C>T | - | IntronicSNV | - | 2/8 |
8-23007178-G-C | TNFRSF10D | c.257-1114C>G | - | IntronicSNV | - | 2/8 |
11-95929222-T-C | MAML2 | c.514-102541A>G | - | IntronicSNV | - | 1/4 |
16-53698676-T-C | RPGRIP1L | c.1243+106A>G | - | IntronicSNV | - | 10/26 |
4-6852114-A-G | KIAA0232 | c.370-6777A>G | - | IntronicSNV | - | 4/9 |
4-6852114-A-T | KIAA0232 | c.370-6777A>T | - | IntronicSNV | - | 4/9 |
3-4602847-T-C | ITPR1 | c.163+40069T>C | - | IntronicSNV | - | 4/57 |
14-33011580-C-T | AKAP6 | c.577-2856C>T | - | IntronicSNV | - | 3/13 |
20-49144669-C-T | PTPN1 | c.-66+17542C>T | - | intron_variant | - | 1/8 |
20-34987833-C-T | DLGAP4 | c.-303-7615C>T | - | intron_variant | - | 1/12 |
16-2941320-T-C | FLYWCH2 | c.-199-3901T>C | - | intron_variant | - | 1/3 |
3-128353950-C-A | RPN1 | c.633+2692G>T | - | IntronicSNV | - | 3/9 |
6-144803855-A-G | UTRN | c.3687+331A>G | - | IntronicSNV | - | 26/73 |
1-155754117-G-T | GON4L | c.1789-237C>A | - | IntronicSNV | - | 13/20 |
1-154568683-T-G | ADAR | c.2270+598A>C | - | IntronicSNV | - | 6/14 |
1-155754117-G-A | GON4L | c.1789-237C>T | - | IntronicSNV | - | 13/20 |
4-7610540-A-G | SORCS2 | c.649-29515A>G | - | IntronicSNV | - | 3/26 |
15-61068520-C-T | RORA | c.167-97635G>A | - | IntronicSNV | - | 1/10 |
17-32193700-C-T | ASIC2 | c.555+289297G>A | - | IntronicSNV | - | 1/9 |
3-185900713-A-C | DGKG | c.2020+5278T>G | - | IntronicSNV | - | 21/23 |
6-31947460-G-T | STK19 | c.803+130G>T | - | IntronicSNV | - | 5/7 |
16-12261329-T-C | SNX29 | c.1596-32129T>C | - | IntronicSNV | - | 13/20 |
3-29841622-A-G | RBMS3 | c.634+37142A>G | - | IntronicSNV | - | 6/13 |
15-49238430-C-T | SHC4 | c.585+16198G>A | - | IntronicSNV | - | 1/11 |
18-44224447-A-G | LOXHD1 | c.246-2448T>C | - | IntronicSNV | - | 2/39 |
17-45355227-T-C | ITGB3 | c.165+3357T>C | - | IntronicSNV | - | 2/14 |
1-115171649-C-T | DENND2C | c.1-3044G>A | - | IntronicSNV | - | 1/17 |
20-36869516-C-A | KIAA1755 | c.1017G>T | p.Lys339Asn | Missense | 3/14 | - |
15-61263377-A-C | RORA | c.166+257875T>G | - | IntronicSNV | - | 1/10 |
2-84746919-C-A | DNAH6 | c.225+1744C>A | - | IntronicSNV | - | 2/76 |
15-49070602-C-A | CEP152 | c.1577+2791G>T | - | IntronicSNV | - | 12/25 |
1-217935206-C-T | SPATA17 | c.520-12470C>T | - | IntronicSNV | - | 6/10 |
15-62202482-C-T | VPS13C | c.8609G>A | p.Ser2870Asn | Missense | 62/83 | - |
15-44195224-T-C | FRMD5 | c.552-764A>G | - | IntronicSNV | - | 6/13 |
15-48545381-C-A | SLC12A1 | c.1942+1414C>A | - | IntronicSNV | - | 15/26 |
4-7434017-G-A | PSAPL1 | c.*1024C>T | - | 3-UTRSNV | 1/1 | - |
1-21583311-T-C | ECE1 | c.829-680A>G | - | IntronicSNV | - | 7/18 |
7-83101484-G-T | SEMA3E | c.277-2866C>A | - | IntronicSNV | - | 2/16 |
6-39857326-A-G | DAAM2 | c.2145+787A>G | - | IntronicSNV | - | 17/24 |
6-151145278-G-A | PLEKHG1 | c.1470+466G>A | - | IntronicSNV | - | 15/16 |
6-151145278-G-C | PLEKHG1 | c.1470+466G>C | - | IntronicSNV | - | 15/16 |
2-47772950-T-C | KCNK12 | c.392-24003A>G | - | IntronicSNV | - | 1/1 |
1-237422989-C-A | RYR2 | c.49-10808C>A | - | IntronicSNV | - | 1/104 |
6-36992237-G-A | FGD2 | c.1459-1331G>A | - | IntronicSNV | - | 13/15 |
18-44126909-T-A | LOXHD1 | c.3463A>T | p.Arg1155Trp | Missense | 22/40 | - |
1-172280589-A-C | DNM3 | c.1881+2610A>C | - | IntronicSNV | - | 16/20 |
12-20770487-A-T | PDE3A | c.1424+1169A>T | - | IntronicSNV | - | 4/15 |
5-132735222-A-G | FSTL4 | c.409+1208T>C | - | IntronicSNV | - | 4/15 |
3-2283621-G-A | CNTN4 | c.-145+2869G>A | - | intron_variant | - | 1/23 |
10-68372621-C-T | CTNNA3 | c.1374+8829G>A | - | IntronicSNV | - | 10/17 |
10-91223352-A-G | SLC16A12 | c.1-1017T>C | - | IntronicSNV | - | 2/7 |
13-21146232-A-T | IFT88 | c.1-2293A>T | - | IntronicSNV | - | 1/25 |
1-153966660-T-G | NUP210L | c.5491+892A>C | - | IntronicSNV | - | 38/39 |
14-72462557-A-G | RGS6 | c.84+30965A>G | - | IntronicSNV | - | 2/17 |
18-55787453-A-G | NEDD4L | c.-315-45567A>G | - | intron_variant | - | 1/30 |
6-33630472-G-A | ITPR3 | c.858+21G>A | - | IntronicSNV | - | 8/57 |
19-17760232-C-T | UNC13A | c.1519-79G>A | - | IntronicSNV | - | 13/43 |
2-103060851-G-A | IL18RAP | c.921-798G>A | - | IntronicSNV | - | 8/11 |
22-36631691-G-A | APOL2 | c.-133-2190C>T | - | intron_variant | - | 2/5 |
16-82197883-G-A | MPHOSPH6 | c.52-84C>T | - | IntronicSNV | - | 1/4 |
22-26774580-A-T | SEZ6L | c.3042+839A>T | - | IntronicSNV | - | 16/16 |
1-154673755-G-A | KCNN3 | c.*6697C>T | - | 3-UTRSNV | 8/8 | - |
15-61039073-C-T | RORA | c.167-68188G>A | - | IntronicSNV | - | 1/10 |
2-141363453-G-A | LRP1B | c.6800-4245C>T | - | IntronicSNV | - | 41/90 |
15-61314596-G-A | RORA | c.166+206656C>T | - | IntronicSNV | - | 1/10 |
15-61314596-G-C | RORA | c.166+206656C>G | - | IntronicSNV | - | 1/10 |
11-36155578-G-A | LDLRAD3 | c.454+35567G>A | - | IntronicSNV | - | 4/5 |
6-36165213-C-T | BRPF3 | c.-27+466C>T | - | intron_variant | - | 1/12 |
2-80034570-T-C | CTNNA2 | c.299-50569T>C | - | IntronicSNV | - | 3/17 |
8-3093985-C-T | CSMD1 | c.4154-6232G>A | - | IntronicSNV | - | 26/69 |
20-45211549-A-G | SLC13A3 | c.1078+662T>C | - | IntronicSNV | - | 10/13 |
6-52765760-A-G | GSTA3 | c.273-887T>C | - | IntronicSNV | - | 4/6 |
19-18309365-A-G | RAB3A | c.472+170T>C | - | IntronicSNV | - | 4/4 |
8-22438313-T-C | PDLIM2 | c.843+103T>C | - | IntronicSNV | - | 2/9 |
6-33055242-C-T | HLA-DPB1 | c.*1227C>T | - | 3-UTRSNV | 6/6 | - |
2-84769058-G-A | DNAH6 | c.663-2299G>A | - | IntronicSNV | - | 4/76 |
8-123802686-A-T | ZHX2 | c.-283+8501A>T | - | intron_variant | - | 1/3 |
8-123802686-A-C | ZHX2 | c.-283+8501A>C | - | intron_variant | - | 1/3 |
8-123802686-A-G | ZHX2 | c.-283+8501A>G | - | intron_variant | - | 1/3 |
12-129432789-G-A | GLT1D1 | c.540+786G>A | - | IntronicSNV | - | 6/7 |
12-69642315-C-T | CPSF6 | c.61-2594C>T | - | IntronicSNV | - | 1/9 |
12-69642315-C-A | CPSF6 | c.61-2594C>A | - | IntronicSNV | - | 1/9 |
12-69642315-C-G | CPSF6 | c.61-2594C>G | - | IntronicSNV | - | 1/9 |
6-31929014-A-C | SKIV2L | c.640A>C | p.Met214Leu | Missense | 8/28 | - |
4-8142672-C-T | ABLIM2 | c.10+17735G>A | - | IntronicSNV | - | 1/20 |
5-150459788-C-T | TNIP1 | c.-37+653G>A | - | intron_variant | - | 1/17 |
9-78949109-C-T | PCSK5 | c.4667+1583C>T | - | IntronicSNV | - | 33/36 |
16-10861110-C-G | TVP23A | c.*1849G>C | - | 3_prime_UTR_variant | 8/8 | - |
1-114687316-A-T | SYT6 | c.1-4823T>A | - | IntronicSNV | - | 1/7 |
5-149897291-T-G | NDST1 | c.1-3526T>G | - | IntronicSNV | - | 1/14 |
5-150459788-C-G | TNIP1 | c.-37+653G>C | - | intron_variant | - | 1/17 |
10-6508563-A-G | PRKCQ | c.1354-2197T>C | - | IntronicSNV | - | 12/17 |
11-107715745-T-C | SLC35F2 | c.110+13639A>G | - | IntronicSNV | - | 1/7 |
6-36729567-A-C | CPNE5 | c.855+1127T>G | - | IntronicSNV | - | 12/20 |
6-36729567-A-T | CPNE5 | c.855+1127T>A | - | IntronicSNV | - | 12/20 |
4-8418430-G-A | ACOX3 | c.1-182C>T | - | IntronicSNV | - | 1/16 |
5-132772381-A-G | FSTL4 | c.161-35703T>C | - | IntronicSNV | - | 3/15 |
18-54415353-A-G | WDR7 | c.1990-8461A>G | - | IntronicSNV | - | 14/27 |
12-26358856-T-C | SSPN | c.279+9972T>C | - | IntronicSNV | - | 1/2 |
11-120166358-A-G | POU2F3 | c.139-2616A>G | - | IntronicSNV | - | 3/12 |
22-21377334-C-T | P2RX6 | c.557+10C>T | - | IntronicSNV | - | 5/11 |
6-33049979-A-G | HLA-DPB1 | c.364+1267A>G | - | IntronicSNV | - | 2/5 |
22-36597881-G-A | APOL4 | c.44+158C>T | - | IntronicSNV | - | 2/5 |
8-22962348-T-A | TNFRSF10C | c.60+1654T>A | - | IntronicSNV | - | 1/4 |
5-140902116-T-G | DIAPH1 | c.3661+1594A>C | - | IntronicSNV | - | 27/27 |
19-18224729-C-T | MAST3 | c.71+6301C>T | - | IntronicSNV | - | 2/26 |
2-116032517-G-A | DPP10 | c.61-34298G>A | - | IntronicSNV | - | 1/25 |
8-18456179-C-A | PSD3 | c.2481+1695G>T | - | IntronicSNV | - | 12/15 |
15-61277083-G-A | RORA | c.166+244169C>T | - | IntronicSNV | - | 1/10 |
10-6489652-T-C | PRKCQ | c.1648-5609A>G | - | IntronicSNV | - | 15/17 |
17-9380821-A-G | STX8 | c.541+14325T>C | - | IntronicSNV | - | 6/7 |
18-47418259-T-C | MYO5B | c.3045+3052A>G | - | IntronicSNV | - | 22/39 |
5-132561277-G-T | FSTL4 | c.1177+73C>A | - | IntronicSNV | - | 9/15 |
10-102524470-G-A | PAX2 | c.410+13822G>A | - | IntronicSNV | - | 3/9 |
8-6278512-G-A | MCPH1 | c.233+6108G>A | - | IntronicSNV | - | 3/13 |
17-76507025-G-A | DNAH17 | c.4114-437C>T | - | IntronicSNV | - | 26/80 |
19-52665260-A-G | ZNF836 | c.16-1416T>C | - | IntronicSNV | - | 3/4 |
20-47982128-G-A | KCNB1 | c.*7392C>T | - | IntergenicSNV | 2/2 | - |
22-37070029-C-T | CACNG2 | c.211+28382G>A | - | IntronicSNV | - | 1/3 |
15-60685176-G-A | ANXA2 | c.-12+4281C>T | - | intron_variant | - | 2/13 |
5-148593472-G-A | ABLIM3 | c.670-3050G>A | - | IntronicSNV | - | 7/23 |
19-18095277-G-A | KCNN1 | c.918-844G>A | - | IntronicSNV | - | 5/10 |
6-34263743-A-G | RPS10-NUDT3 | c.568-281T>C | - | IntronicSNV | - | 6/8 |
10-121054378-C-G | GRK5 | c.53-31650C>G | - | IntronicSNV | - | 1/15 |
8-22084653-C-T | PHYHIP | c.166-115G>A | - | IntronicSNV | - | 2/4 |
10-121054378-C-T | GRK5 | c.53-31650C>T | - | IntronicSNV | - | 1/15 |
1-2069681-C-T | PRKCZ | c.420+2895C>T | - | IntronicSNV | - | 5/17 |
17-76897974-C-T | CEP295NL | c.1-64G>A | - | 5-UTRSNV | 2/3 | - |
22-38093169-G-A | TRIOBP | c.-170+73G>A | - | intron_variant | - | 1/23 |
5-7510391-C-T | ADCY2 | c.409-10460C>T | - | IntronicSNV | - | 2/24 |
8-23051485-C-T | TNFRSF10A | c.1088-1959G>A | - | IntronicSNV | - | 9/9 |
1-66785930-A-G | PDE4B | c.635-12261A>G | - | IntronicSNV | - | 7/16 |
10-5853767-T-C | GDI2 | c.45+1410A>G | - | IntronicSNV | - | 1/10 |
1-10282166-G-A | KIF1B | c.1-10221G>A | - | IntronicSNV | - | 1/46 |
1-154681950-A-G | KCNN3 | c.1900-1202T>C | - | IntronicSNV | - | 7/7 |
17-44790203-A-G | NSF | c.1628-1016A>G | - | IntronicSNV | - | 14/20 |
6-13149492-G-A | PHACTR1 | c.416-10944G>A | - | IntronicSNV | - | 5/14 |
9-107603043-G-A | ABCA1 | c.814-243C>T | - | IntronicSNV | - | 8/49 |
5-132726731-T-C | FSTL4 | c.409+9699A>G | - | IntronicSNV | - | 4/15 |
5-179427873-A-G | RNF130 | c.693+12188T>C | - | IntronicSNV | - | 3/8 |
2-227778397-G-A | RHBDD1 | c.713-527G>A | - | IntronicSNV | - | 7/8 |
18-43702733-C-T | HAUS1 | c.600+177C>T | - | IntronicSNV | - | 5/8 |
11-111679262-C-T | ALG9 | c.1733+1105G>A | - | intron_variant | - | 15/15 |
18-46221152-C-T | CTIF | c.508-16838C>T | - | IntronicSNV | - | 6/11 |
11-62328551-A-G | EEF1G | c.858-625T>C | - | IntronicSNV | - | 7/9 |
15-61208729-A-G | RORA | c.167-237844T>C | - | IntronicSNV | - | 1/10 |
16-10645717-T-A | EMP2 | c.1-4243A>T | - | IntronicSNV | - | 1/4 |
14-92803916-T-C | SLC24A4 | c.241+11594T>C | - | IntronicSNV | - | 2/16 |
2-102961929-C-T | IL1RL1 | c.970+2054C>T | - | IntronicSNV | - | 8/10 |
1-159409851-G-A | OR10J1 | c.303G>A | p.Gln101Gln | Synonymous | 1/1 | - |
10-6566975-T-G | PRKCQ | c.1-9878A>C | - | IntronicSNV | - | 1/17 |
10-76700844-G-A | KAT6B | c.622-18884G>A | - | IntronicSNV | - | 3/17 |
19-52083507-C-T | ZNF175 | c.73-1137C>T | - | IntronicSNV | - | 2/4 |
10-5685209-G-A | ASB13 | c.518-1285C>T | - | IntronicSNV | - | 4/5 |
15-61208729-A-T | RORA | c.167-237844T>A | - | IntronicSNV | - | 1/10 |
20-45637163-G-T | EYA2 | c.298+3440G>T | - | IntronicSNV | - | 4/15 |
11-35535317-C-T | PAMR1 | c.73+11744G>A | - | IntronicSNV | - | 1/11 |
16-55724411-A-G | SLC6A2 | c.784-1419A>G | - | IntronicSNV | - | 4/13 |
20-45602299-C-T | EYA2 | c.1-16351C>T | - | IntronicSNV | - | 1/15 |
1-60459260-G-A | C1orf87 | c.1481-2755C>T | - | IntronicSNV | - | 11/11 |
19-18109314-A-G | KCNN1 | c.*99A>G | - | 3-UTRSNV | 11/11 | - |
6-36749072-C-T | CPNE5 | c.529-2338G>A | - | IntronicSNV | - | 8/20 |
19-18109314-A-T | KCNN1 | c.*99A>T | - | 3-UTRSNV | 11/11 | - |
18-67304729-G-A | DOK6 | c.289+37995G>A | - | IntronicSNV | - | 3/7 |
1-217780472-A-T | GPATCH2 | c.1098+3191T>A | - | IntronicSNV | - | 5/9 |
1-217780472-A-C | GPATCH2 | c.1098+3191T>G | - | IntronicSNV | - | 5/9 |
15-99887019-C-T | LRRC28 | c.593-5555C>T | - | IntronicSNV | - | 6/9 |
5-158442109-A-T | EBF1 | c.554+58295T>A | - | IntronicSNV | - | 6/15 |
5-158442109-A-C | EBF1 | c.554+58295T>G | - | IntronicSNV | - | 6/15 |
10-91199517-T-C | SLC16A12 | c.449-577A>G | - | IntronicSNV | - | 5/7 |
9-4080699-T-C | GLIS3 | c.1245+37069A>G | - | IntronicSNV | - | 3/9 |
10-6490221-A-G | PRKCQ | c.1648-6178T>C | - | IntronicSNV | - | 15/17 |
1-10385664-G-A | KIF1B | c.2538-505G>A | - | IntronicSNV | - | 24/46 |
11-99964867-A-G | CNTN5 | c.1580+19841A>G | - | IntronicSNV | - | 13/24 |
17-51901385-C-G | KIF2B | c.991C>G | p.Leu331Val | Missense | 1/1 | - |
17-51901385-C-T | KIF2B | c.991C>T | p.Leu331Leu | Synonymous | 1/1 | - |
15-60781513-T-C | RORA | c.*8141A>G | - | 3-UTRSNV | 11/11 | - |
2-200201605-A-T | SATB2 | c.1174-7972T>A | - | IntronicSNV | - | 8/11 |
18-61587067-C-T | SERPINB10 | c.418C>T | p.Pro140Ser | Missense | 5/8 | - |
3-62469776-T-C | CADPS | c.3027-2232A>G | - | IntronicSNV | - | 21/29 |
6-36856739-C-T | C6orf89 | c.2+2935C>T | - | IntronicSNV | - | 1/7 |
3-128353950-C-G | RPN1 | c.633+2692G>C | - | IntronicSNV | - | 3/9 |
2-46414446-G-A | PRKCE | c.*2426G>A | - | 3-UTRSNV | 15/15 | - |
13-21188339-G-A | IFT88 | c.1113-1593G>A | - | IntronicSNV | - | 13/25 |
12-27916206-G-T | MANSC4 | c.488C>A | p.Thr163Lys | Missense | 3/3 | - |
16-84441700-A-G | ATP2C2 | c.328-311A>G | - | IntronicSNV | - | 3/26 |
15-44236115-C-T | FRMD5 | c.103-19608G>A | - | IntronicSNV | - | 1/13 |
14-91739081-A-G | CCDC88C | c.5975T>C | p.Leu1992Pro | Missense | 30/30 | - |
6-33056897-C-T | HLA-DPB1 | c.*2586C>T | - | 3_prime_UTR_variant | 6/6 | - |
10-131512933-C-G | MGMT | c.274+6626C>G | - | intron_variant | - | 3/4 |
1-163324458-G-A | NUF2 | c.1261-667G>A | - | IntronicSNV | - | 13/13 |
1-109513497-C-T | WDR47 | c.*555G>A | - | 3-UTRSNV | 15/15 | - |
22-37063016-T-C | CACNG2 | c.211+35395A>G | - | IntronicSNV | - | 1/3 |
4-21052369-A-C | KCNIP4 | c.62-168037T>G | - | IntronicSNV | - | 1/8 |
14-91742658-G-A | CCDC88C | c.5058+1608C>T | - | IntronicSNV | - | 29/29 |
16-82974628-A-G | CDH13 | c.157+82550A>G | - | IntronicSNV | - | 2/13 |
16-81976177-C-T | PLCG2 | c.3481+2513C>T | - | IntronicSNV | - | 30/32 |
6-151638269-A-G | AKAP12 | c.319+11231A>G | - | IntronicSNV | - | 3/4 |
14-90599270-A-C | KCNK13 | c.335-51185A>C | - | IntronicSNV | - | 1/1 |
1-112517914-A-G | KCND3 | c.1106+6329T>C | - | IntronicSNV | - | 2/6 |
12-27916206-G-A | MANSC4 | c.488C>T | p.Thr163Met | Missense | 3/3 | - |
15-80702986-A-G | ARNT2 | c.31+6098A>G | - | IntronicSNV | - | 1/18 |
8-22606292-A-G | PEBP4 | c.358-21559T>C | - | IntronicSNV | - | 4/6 |
1-109513497-C-G | WDR47 | c.*555G>C | - | 3-UTRSNV | 15/15 | - |
6-41738158-C-T | FRS3 | c.*199G>A | - | 3-UTRSNV | 7/7 | - |
12-53184491-A-G | KRT3 | c.1570+131T>C | - | IntronicSNV | - | 8/8 |
20-36422696-A-G | CTNNBL1 | c.1032-8573A>G | - | IntronicSNV | - | 10/15 |
16-81976177-C-G | PLCG2 | c.3481+2513C>G | - | IntronicSNV | - | 30/32 |
16-12248380-C-T | SNX29 | c.1595+24765C>T | - | IntronicSNV | - | 13/20 |
15-61132845-G-A | RORA | c.167-161960C>T | - | IntronicSNV | - | 1/10 |
22-35817597-C-A | MCM5 | c.1975+144C>A | - | IntronicSNV | - | 15/16 |
10-7265468-T-C | SFMBT2 | c.1204-2969A>G | - | IntronicSNV | - | 10/20 |
12-68047049-C-G | DYRK2 | c.1-3858C>G | - | IntronicSNV | - | 1/1 |
10-6512559-G-A | PRKCQ | c.1354-6193C>T | - | IntronicSNV | - | 12/17 |
12-68047049-C-T | DYRK2 | c.1-3858C>T | - | IntronicSNV | - | 1/1 |
22-38463968-A-G | PICK1 | c.349+191A>G | - | IntronicSNV | - | 5/12 |
13-30015007-G-A | MTUS2 | c.3184+821G>A | - | intron_variant | - | 7/13 |
2-191064753-C-T | C2orf88 | c.167C>T | p.Thr56Ile | Missense | 2/2 | - |
8-3421598-T-C | CSMD1 | c.1344+10869A>G | - | IntronicSNV | - | 10/69 |
5-9385813-G-T | SEMA5A | c.1-5755C>A | - | IntronicSNV | - | 2/22 |
18-44124967-A-G | LOXHD1 | c.3619+313T>C | - | IntronicSNV | - | 23/39 |
14-71507601-G-T | PCNX1 | c.3868-4249G>T | - | IntronicSNV | - | 19/35 |
19-16868963-T-C | NWD1 | c.1770-1073T>C | - | IntronicSNV | - | 6/18 |
14-71507601-G-C | PCNX1 | c.3868-4249G>C | - | IntronicSNV | - | 19/35 |
18-44210118-G-A | LOXHD1 | c.511+9461C>T | - | IntronicSNV | - | 4/39 |
15-67446785-G-T | SMAD3 | c.207-10448G>T | - | IntronicSNV | - | 1/8 |
10-6497422-T-C | PRKCQ | c.1647+1214A>G | - | IntronicSNV | - | 15/17 |
19-16868963-T-A | NWD1 | c.1770-1073T>A | - | IntronicSNV | - | 6/18 |
6-42174558-A-C | MRPS10 | c.*1469T>G | - | 3-UTRSNV | 7/7 | - |
2-23664914-G-A | KLHL29 | c.-153-33516G>A | - | intron_variant | - | 1/13 |
18-43777831-T-G | C18orf25 | c.1-18016T>G | - | IntronicSNV | - | 1/4 |
18-47400901-T-C | MYO5B | c.3537+1156A>G | - | IntronicSNV | - | 26/39 |
15-67423306-C-T | SMAD3 | c.207-33927C>T | - | IntronicSNV | - | 1/8 |
9-3995072-A-G | GLIS3 | c.1246-57883T>C | - | IntronicSNV | - | 3/9 |
5-148579137-G-A | ABLIM3 | c.336-742G>A | - | IntronicSNV | - | 4/23 |
22-36539852-G-A | APOL3 | c.-251+1669C>T | - | intron_variant | - | 4/4 |
1-218010172-C-T | SPATA17 | c.1006-25944C>T | - | IntronicSNV | - | 9/10 |
19-19016108-A-G | COPE | c.497+277T>C | - | IntronicSNV | - | 5/9 |
15-67014992-C-T | SMAD6 | c.952+6156C>T | - | IntronicSNV | - | 3/3 |
12-56564811-G-A | SMARCC2 | c.2347+244C>T | - | IntronicSNV | - | 22/29 |
1-17872028-G-A | ARHGEF10L | c.-44+5583G>A | - | intron_variant | - | 1/28 |
15-67374111-C-T | SMAD3 | c.206+15413C>T | - | IntronicSNV | - | 1/8 |
1-167619333-C-T | RCSD1 | c.6+19667C>T | - | IntronicSNV | - | 1/6 |
5-132810908-G-T | FSTL4 | c.161-74230C>A | - | IntronicSNV | - | 3/15 |
20-36154004-T-C | BLCAP | c.-177+2191A>G | - | intron_variant | - | 1/1 |
10-5682855-T-C | ASB13 | c.710-62A>G | - | IntronicSNV | - | 5/5 |
4-7432577-A-G | PSAPL1 | c.*2464T>C | - | 3-UTRSNV | 1/1 | - |
1-64624403-A-C | ROR1 | c.1175-261A>C | - | IntronicSNV | - | 7/8 |
1-246087573-T-C | SMYD3 | c.525+3660A>G | - | IntronicSNV | - | 7/11 |
4-8373832-G-T | ACOX3 | c.1829-1111C>A | - | IntronicSNV | - | 15/16 |
1-64624403-A-G | ROR1 | c.1175-261A>G | - | IntronicSNV | - | 7/8 |
13-21245468-C-T | IFT88 | c.2242+290C>T | - | IntronicSNV | - | 24/25 |
10-14161500-C-T | FRMD4A | c.45+210557G>A | - | IntronicSNV | - | 2/24 |
2-241980123-A-G | SNED1 | c.1273+293A>G | - | IntronicSNV | - | 8/31 |
9-28663042-T-C | LINGO2 | c.-365+7156A>G | - | intron_variant | - | 2/6 |
11-6563565-A-C | DNHD1 | c.3629-1786A>C | - | IntronicSNV | - | 18/42 |
6-36772000-A-G | CPNE5 | c.184-4153T>C | - | IntronicSNV | - | 3/20 |
18-44330842-T-C | ST8SIA5 | c.131+5499A>G | - | IntronicSNV | - | 1/6 |
2-84765031-T-C | DNAH6 | c.663-6326T>C | - | IntronicSNV | - | 4/76 |
3-71164178-T-A | FOXP1 | c.181-2390A>T | - | IntronicSNV | - | 6/20 |
20-36768309-C-T | TGM2 | c.1100-253G>A | - | IntronicSNV | - | 8/9 |
15-60687230-A-C | ANXA2 | c.-12+2227T>G | - | intron_variant | - | 2/13 |
16-81830475-T-C | PLCG2 | c.193+10688T>C | - | IntronicSNV | - | 2/32 |
8-69325848-A-G | C8orf34 | c.328-25886A>G | - | IntronicSNV | - | 1/13 |
7-122490416-A-G | CADPS2 | c.339+35637T>C | - | IntronicSNV | - | 1/29 |
6-51835484-C-A | PKHD1 | c.5752-10660G>T | - | IntronicSNV | - | 35/66 |
15-34198564-T-G | AVEN | c.446-30368A>C | - | IntronicSNV | - | 2/5 |
2-84859888-T-G | DNAH6 | c.4516-1740T>G | - | IntronicSNV | - | 29/76 |
6-33647651-A-G | ITPR3 | c.3973-8A>G | - | IntronicSNV | - | 30/57 |
1-22224102-A-G | HSPG2 | c.64-1299T>C | - | IntronicSNV | - | 1/96 |
22-36596652-C-T | APOL4 | c.45-1230G>A | - | IntronicSNV | - | 2/5 |
1-198212636-G-A | NEK7 | c.58-9534G>A | - | IntronicSNV | - | 2/9 |
4-70516671-C-T | UGT2A1 | c.-55+2235G>A | - | intron_variant | - | 1/6 |
13-80098989-C-T | NDFIP2 | c.487+3879C>T | - | IntronicSNV | - | 2/7 |
4-8386720-G-A | ACOX3 | c.1538-3386C>T | - | IntronicSNV | - | 13/16 |
13-80098989-C-A | NDFIP2 | c.487+3879C>A | - | IntronicSNV | - | 2/7 |
3-133594691-C-T | RAB6B | c.71-11205G>A | - | IntronicSNV | - | 1/7 |
5-132929310-A-G | FSTL4 | c.126+10239T>C | - | IntronicSNV | - | 2/15 |
15-100756407-G-A | ADAMTS17 | c.1076-16779C>T | - | IntronicSNV | - | 7/21 |
11-36158694-G-A | LDLRAD3 | c.454+38683G>A | - | IntronicSNV | - | 4/5 |
6-36984814-T-C | FGD2 | c.1122+1178T>C | - | IntronicSNV | - | 9/15 |
10-6531149-C-T | PRKCQ | c.790+2496G>A | - | IntronicSNV | - | 8/17 |
16-10861110-C-T | TVP23A | c.*1849G>A | - | 3_prime_UTR_variant | 8/8 | - |
20-35056572-A-G | DLGAP4 | c.1-3549A>G | - | IntronicSNV | - | 2/12 |
9-131799261-C-T | MIGA2 | c.15C>T | - | synonymous_variant | 1/16 | - |
1-27755669-A-C | WASF2 | c.1-269T>G | - | IntronicSNV | - | 1/8 |
16-88773738-C-T | CTU2 | c.143+120C>T | - | IntronicSNV | - | 2/13 |
4-66332919-G-C | EPHA5 | c.1402+23176C>G | - | IntronicSNV | - | 5/17 |
20-45637163-G-A | EYA2 | c.298+3440G>A | - | IntronicSNV | - | 4/15 |
2-198920142-T-C | PLCL1 | c.241-28340T>C | - | IntronicSNV | - | 1/5 |
10-27317840-C-T | ANKRD26 | c.3910G>A | p.Val1304Ile | Missense | 27/34 | - |
18-44257024-G-A | ST8SIA5 | c.*2981C>T | - | IntergenicSNV | 7/7 | - |
2-198920142-T-A | PLCL1 | c.241-28340T>A | - | IntronicSNV | - | 1/5 |
2-159508114-C-T | PKP4 | c.1910-6529C>T | - | IntronicSNV | - | 11/20 |
5-115617297-A-G | COMMD10 | c.511-9917A>G | - | IntronicSNV | - | 5/6 |
9-73309097-T-C | TRPM3 | c.814-12603A>G | - | IntronicSNV | - | 8/24 |
16-81813553-G-C | PLCG2 | c.-48+524G>C | - | intron_variant | - | 1/32 |
16-81813553-G-A | PLCG2 | c.-48+524G>A | - | intron_variant | - | 1/32 |
16-2048796-C-T | ZNF598 | c.2268G>A | - | synonymous_variant | 13/14 | - |
6-106734040-C-T | ATG5 | c.316-6342G>A | - | IntronicSNV | - | 4/7 |
19-44339442-A-G | ZNF283 | c.123-215A>G | - | IntronicSNV | - | 4/6 |
6-33647594-C-T | ITPR3 | c.3973-65C>T | - | IntronicSNV | - | 30/57 |
6-33647594-C-A | ITPR3 | c.3973-65C>A | - | IntronicSNV | - | 30/57 |
4-8398024-G-A | ACOX3 | c.1056+640C>T | - | IntronicSNV | - | 9/16 |
4-8398024-G-T | ACOX3 | c.1056+640C>A | - | IntronicSNV | - | 9/16 |
17-77355688-A-G | RBFOX3 | c.-174-51782T>C | - | intron_variant | - | 2/14 |
2-63654109-G-A | WDPCP | c.825+6770C>T | - | IntronicSNV | - | 9/17 |
2-46365920-G-A | PRKCE | c.1593-6312G>A | - | IntronicSNV | - | 11/14 |
17-77325723-C-T | RBFOX3 | c.-174-21817G>A | - | intron_variant | - | 2/14 |
15-49237709-G-A | SHC4 | c.585+16919C>T | - | IntronicSNV | - | 1/11 |
15-91426560-G-A | FURIN | c.*1452G>A | - | 3-UTRSNV | 16/16 | - |
15-100771660-A-T | ADAMTS17 | c.1075+22681T>A | - | IntronicSNV | - | 7/21 |
19-13585915-A-T | CACNA1A | c.294-19889T>A | - | IntronicSNV | - | 1/47 |
10-72974671-G-T | UNC5B | c.79+1850G>T | - | IntronicSNV | - | 1/16 |
19-13585915-A-G | CACNA1A | c.294-19889T>C | - | IntronicSNV | - | 1/47 |
8-23001988-A-G | TNFRSF10D | c.929T>C | p.Leu310Ser | Missense | 7/9 | - |
19-14721259-T-C | CLEC17A | c.*357T>C | - | 3-UTRSNV | 13/13 | - |
5-158488198-A-C | EBF1 | c.554+12206T>G | - | IntronicSNV | - | 6/15 |
12-88931532-T-C | KITLG | c.130-5252A>G | - | IntronicSNV | - | 2/8 |
19-54550487-T-G | VSTM1 | c.394+4177A>C | - | IntronicSNV | - | 4/8 |
19-54550487-T-C | VSTM1 | c.394+4177A>G | - | IntronicSNV | - | 4/8 |
1-201328824-G-T | TNNT2 | c.802-33C>A | - | IntronicSNV | - | 14/15 |
17-77159465-G-A | RBFOX3 | c.1-47668C>T | - | IntronicSNV | - | 4/14 |
11-84279862-A-G | DLG2 | c.43-34088T>C | - | IntronicSNV | - | 1/22 |
6-33541719-A-G | BAK1 | c.532-35T>C | - | IntronicSNV | - | 5/5 |
10-22148230-T-C | DNAJC1 | c.978+22981A>G | - | IntronicSNV | - | 8/11 |
3-118747851-C-T | IGSF11 | c.52+5527G>A | - | IntronicSNV | - | 1/6 |
2-50439540-T-C | NRXN1 | c.3666+24387A>G | - | IntronicSNV | - | 19/23 |
15-61204281-T-C | RORA | c.167-233396A>G | - | IntronicSNV | - | 1/10 |
2-46542408-C-T | EPAS1 | c.26+17332C>T | - | IntronicSNV | - | 1/15 |
16-82182354-G-A | MPHOSPH6 | c.465C>T | p.Phe155Phe | Synonymous | 5/5 | - |
18-67314118-A-G | DOK6 | c.290-30852A>G | - | IntronicSNV | - | 3/7 |
10-22148230-T-A | DNAJC1 | c.978+22981A>T | - | IntronicSNV | - | 8/11 |
22-38009241-C-A | GGA1 | c.44-956C>A | - | IntronicSNV | - | 1/16 |
1-155038756-T-C | EFNA4 | c.114-450T>C | - | IntronicSNV | - | 1/3 |
18-43837255-C-A | C18orf25 | c.1022+3469C>A | - | IntronicSNV | - | 4/4 |
11-6532519-C-T | DNHD1 | c.1252C>T | p.His418Tyr | Missense | 7/43 | - |
1-201328824-G-A | TNNT2 | c.802-33C>T | - | IntronicSNV | - | 14/15 |
1-2211849-A-C | SKI | c.970-22568A>C | - | IntronicSNV | - | 1/6 |
1-2211849-A-G | SKI | c.970-22568A>G | - | IntronicSNV | - | 1/6 |
6-35005084-A-C | ANKS1A | c.2011-16792A>C | - | IntronicSNV | - | 11/23 |
18-43566304-T-C | PSTPIP2 | c.*9-888A>G | - | intron_variant | - | 14/14 |
19-17773433-C-G | UNC13A | c.559+908G>C | - | IntronicSNV | - | 8/43 |
18-46340843-T-G | CTIF | c.1372-2749T>G | - | IntronicSNV | - | 9/11 |
1-198174863-A-T | NEK7 | c.1-26848A>T | - | IntronicSNV | - | 1/9 |
1-198174863-A-G | NEK7 | c.1-26848A>G | - | IntronicSNV | - | 1/9 |
19-17773433-C-A | UNC13A | c.559+908G>T | - | IntronicSNV | - | 8/43 |
10-74654754-G-T | OIT3 | c.61+1137G>T | - | IntronicSNV | - | 1/8 |
18-6092174-A-G | L3MBTL4 | c.1373+1180T>C | - | IntronicSNV | - | 15/19 |
15-67385333-T-C | SMAD3 | c.206+26635T>C | - | IntronicSNV | - | 1/8 |
15-67385333-T-A | SMAD3 | c.206+26635T>A | - | IntronicSNV | - | 1/8 |
3-73627014-T-C | PDZRN3 | c.918+24491A>G | - | IntronicSNV | - | 3/9 |
2-63374600-C-T | WDPCP | c.2190+5449G>A | - | IntronicSNV | - | 17/17 |
11-120159052-C-A | POU2F3 | c.139-9922C>A | - | IntronicSNV | - | 3/12 |
5-138753725-C-T | DNAJC18 | c.952+2017G>A | - | IntronicSNV | - | 7/7 |
17-64569453-C-T | PRKCA | c.289-68020C>T | - | IntronicSNV | - | 3/16 |
5-138753725-C-G | DNAJC18 | c.952+2017G>C | - | IntronicSNV | - | 7/7 |
13-23966145-A-T | SACS | c.21-16737T>A | - | IntronicSNV | - | 2/9 |
20-4795821-C-A | RASSF2 | c.-33+7154G>T | - | intron_variant | - | 2/11 |
5-132758353-T-C | FSTL4 | c.161-21675A>G | - | IntronicSNV | - | 3/15 |
6-167532793-A-G | CCR6 | c.-98+7291A>G | - | intron_variant | - | 1/2 |
9-8342540-G-T | PTPRD | c.3432-562C>A | - | IntronicSNV | - | 23/29 |
16-81597173-T-C | CMIP | c.19-43999T>C | - | IntronicSNV | - | 1/20 |
1-27792559-T-C | WASF2 | c.-44+23938A>G | - | intron_variant | - | 1/8 |
21-16380025-G-C | NRIP1 | c.-335+6640C>G | - | intron_variant | - | 3/3 |
13-25491009-T-C | CENPJ | c.1-3846A>G | - | IntronicSNV | - | 1/16 |
13-25491009-T-A | CENPJ | c.1-3846A>T | - | IntronicSNV | - | 1/16 |
17-31936471-C-T | ASIC2 | c.556-497386G>A | - | IntronicSNV | - | 1/9 |
1-112477423-A-G | KCND3 | c.1106+46820T>C | - | IntronicSNV | - | 2/6 |
5-169203598-A-G | DOCK2 | c.2554+14969A>G | - | IntronicSNV | - | 25/51 |
18-61566578-T-G | SERPINB2 | c.535+1500T>G | - | IntronicSNV | - | 5/7 |
4-21598315-C-T | KCNIP4 | c.61+351879G>A | - | IntronicSNV | - | 1/8 |
2-84846683-A-G | DNAH6 | c.3573-126A>G | - | IntronicSNV | - | 23/76 |
20-49163235-A-G | PTPN1 | c.1-18336A>G | - | IntronicSNV | - | 1/8 |
3-30011942-T-C | RBMS3 | c.1045-17692T>C | - | IntronicSNV | - | 11/13 |
2-110005208-C-A | SH3RF3 | c.946-9838C>A | - | IntronicSNV | - | 3/9 |
17-74014668-T-C | EVPL | c.1298A>G | p.Gln433Arg | Missense | 12/22 | - |
15-62301094-G-A | VPS13C | c.883-134C>T | - | IntronicSNV | - | 11/82 |
2-84668905-G-A | SUCLG1 | c.319-322C>T | - | IntronicSNV | - | 3/8 |
8-18448771-G-A | PSD3 | c.2481+9103C>T | - | IntronicSNV | - | 12/15 |
8-69568102-A-G | C8orf34 | c.1241+15356A>G | - | IntronicSNV | - | 8/13 |
5-132801509-A-T | FSTL4 | c.161-64831T>A | - | IntronicSNV | - | 3/15 |
2-84849386-T-C | DNAH6 | c.4071+711T>C | - | IntronicSNV | - | 26/76 |
1-154742575-A-G | KCNN3 | c.1448+1876T>C | - | IntronicSNV | - | 3/7 |
16-81591496-T-C | CMIP | c.19-49676T>C | - | IntronicSNV | - | 1/20 |
1-155106550-A-G | EFNA1 | c.*7A>G | - | 3-UTRSNV | 5/5 | - |
14-24033027-G-C | AP1G2 | c.1130C>G | p.Ser377Cys | Missense | 12/22 | - |
1-153390245-T-C | S100A7A | c.1-314T>C | - | IntronicSNV | - | 1/2 |
1-154076366-T-C | NUP210L | c.1819+122A>G | - | IntronicSNV | - | 13/39 |
12-68612531-C-A | IL26 | c.363+6398G>T | - | IntronicSNV | - | 3/4 |
10-73294743-T-C | CDH23 | c.429+23774T>C | - | IntronicSNV | - | 6/13 |
8-23201313-C-T | LOXL2 | c.532-2597G>A | - | IntronicSNV | - | 3/13 |
8-23201313-C-G | LOXL2 | c.532-2597G>C | - | IntronicSNV | - | 3/13 |
10-5994694-A-C | IL15RA | c.*364T>G | - | 3-UTRSNV | 7/7 | - |
9-73419560-G-A | TRPM3 | c.515-20365C>T | - | IntronicSNV | - | 6/24 |
14-20920250-T-A | OSGEP | c.294A>T | p.Gln98His | Missense | 3/11 | - |
14-20920250-T-C | OSGEP | c.294A>G | p.Gln98Gln | Synonymous | 3/11 | - |
14-20920250-T-G | OSGEP | c.294A>C | p.Gln98His | Missense | 3/11 | - |
15-61124953-T-G | RORA | c.167-154068A>C | - | IntronicSNV | - | 1/10 |
18-44111608-A-G | LOXHD1 | c.4375+1517T>C | - | IntronicSNV | - | 28/39 |
7-128140150-G-A | METTL2B | c.917-807G>A | - | IntronicSNV | - | 7/8 |
1-27800482-C-T | WASF2 | c.-44+16015G>A | - | intron_variant | - | 1/8 |
4-143234955-G-A | INPP4B | c.423+910C>T | - | IntronicSNV | - | 9/26 |
1-27800482-C-A | WASF2 | c.-44+16015G>T | - | intron_variant | - | 1/8 |
11-36177369-C-T | LDLRAD3 | c.454+57358C>T | - | IntronicSNV | - | 4/5 |
4-143234955-G-C | INPP4B | c.423+910C>G | - | IntronicSNV | - | 9/26 |
1-154679567-C-T | KCNN3 | c.*885G>A | - | 3-UTRSNV | 8/8 | - |
13-113164017-T-C | TUBGCP3 | c.2087-4989A>G | - | IntronicSNV | - | 17/21 |
11-36159947-G-A | LDLRAD3 | c.454+39936G>A | - | IntronicSNV | - | 4/5 |
2-46308729-C-T | PRKCE | c.1438-4618C>T | - | IntronicSNV | - | 10/14 |
19-18255359-G-A | MAST3 | c.2581G>A | p.Gly861Ser | Missense | 22/27 | - |
2-46308729-C-A | PRKCE | c.1438-4618C>A | - | IntronicSNV | - | 10/14 |
12-18551811-A-G | PIK3C2G | c.2004-782A>G | - | IntronicSNV | - | 14/31 |
14-53379842-C-T | FERMT2 | c.391+5999G>A | - | IntronicSNV | - | 3/14 |
1-112027033-G-T | TMIGD3 | c.731-654C>A | - | IntronicSNV | - | 5/5 |
15-44199309-G-T | FRMD5 | c.428-1160C>A | - | IntronicSNV | - | 5/13 |
5-148660697-T-C | AFAP1L1 | c.16+9150T>C | - | IntronicSNV | - | 1/18 |
15-61126859-T-C | RORA | c.167-155974A>G | - | IntronicSNV | - | 1/10 |
1-2211849-A-T | SKI | c.970-22568A>T | - | IntronicSNV | - | 1/6 |
1-154767834-A-G | KCNN3 | c.1030-22965T>C | - | IntronicSNV | - | 2/7 |
12-20770487-A-G | PDE3A | c.1424+1169A>G | - | IntronicSNV | - | 4/15 |
15-91788348-G-A | SV2B | c.452-6701G>A | - | IntronicSNV | - | 3/13 |
1-66269311-T-C | PDE4B | c.-71+10380T>C | - | intron_variant | - | 1/16 |
11-36173252-G-C | LDLRAD3 | c.454+53241G>C | - | IntronicSNV | - | 4/5 |
11-120126277-C-T | POU2F3 | c.103+9051C>T | - | IntronicSNV | - | 2/12 |
11-36173252-G-A | LDLRAD3 | c.454+53241G>A | - | IntronicSNV | - | 4/5 |
11-120126277-C-A | POU2F3 | c.103+9051C>A | - | IntronicSNV | - | 2/12 |
6-28301143-T-C | ZSCAN31 | c.-96+2716A>G | - | intron_variant | - | 1/3 |
20-36444876-C-T | CTNNBL1 | c.1213+13426C>T | - | IntronicSNV | - | 11/15 |
7-12424405-A-G | VWDE | c.476-1178T>C | - | IntronicSNV | - | 3/28 |
6-36781635-C-T | CPNE5 | c.183+8255G>A | - | IntronicSNV | - | 3/20 |
18-44126909-T-C | LOXHD1 | c.3463A>G | p.Arg1155Gly | Missense | 22/40 | - |
6-36832103-T-C | PPIL1 | c.211+7391A>G | - | IntronicSNV | - | 2/3 |
1-116552570-C-A | SLC22A15 | c.301-9633C>A | - | IntronicSNV | - | 2/11 |
1-116552570-C-T | SLC22A15 | c.301-9633C>T | - | IntronicSNV | - | 2/11 |
13-23967690-A-T | SACS | c.20+17669T>A | - | IntronicSNV | - | 2/9 |
20-36339636-T-C | CTNNBL1 | c.30+17082T>C | - | IntronicSNV | - | 1/15 |
15-91796537-T-C | SV2B | c.784+787T>C | - | IntronicSNV | - | 5/13 |
12-25657520-T-A | LMNTD1 | c.1127-786A>T | - | IntronicSNV | - | 7/8 |
6-52626269-G-A | GSTA2 | c.-31+1973C>T | - | intron_variant | - | 1/6 |
6-20417976-G-T | E2F3 | c.18+13913G>T | - | IntronicSNV | - | 1/6 |
11-8270244-T-C | LMO1 | c.25+14641A>G | - | IntronicSNV | - | 1/3 |
14-91742658-G-C | CCDC88C | c.5058+1608C>G | - | IntronicSNV | - | 29/29 |
15-61000663-A-G | RORA | c.167-29778T>C | - | IntronicSNV | - | 1/10 |
15-61000663-A-C | RORA | c.167-29778T>G | - | IntronicSNV | - | 1/10 |
1-198252623-C-T | NEK7 | c.589+4432C>T | - | IntronicSNV | - | 7/9 |
2-191527908-C-T | NAB1 | c.819+3187C>T | - | IntronicSNV | - | 4/9 |
15-61434581-A-G | RORA | c.166+86671T>C | - | IntronicSNV | - | 1/10 |
15-61434581-A-C | RORA | c.166+86671T>G | - | IntronicSNV | - | 1/10 |
11-36251046-G-C | LDLRAD3 | c.*99G>C | - | 3-UTRSNV | 6/6 | - |
15-27668224-A-G | GABRG3 | c.575-57572A>G | - | IntronicSNV | - | 5/5 |
11-36251046-G-A | LDLRAD3 | c.*99G>A | - | 3-UTRSNV | 6/6 | - |
15-60674672-C-T | ANXA2 | c.49-32G>A | - | IntronicSNV | - | 3/13 |
1-900505-G-A | KLHL17 | c.1863G>A | p.Val621Val | Synonymous | 12/12 | - |
10-53134347-C-T | PRKG1 | c.434-93136C>T | - | IntronicSNV | - | 2/17 |
1-154717908-C-T | KCNN3 | c.1449-12288G>A | - | IntronicSNV | - | 3/7 |
7-23750522-C-T | STK31 | c.50+568C>T | - | IntronicSNV | - | 1/23 |
13-21191878-G-A | IFT88 | c.1199+1860G>A | - | IntronicSNV | - | 14/25 |
18-67309196-A-G | DOK6 | c.290-35774A>G | - | IntronicSNV | - | 3/7 |
15-61393516-A-G | RORA | c.166+127736T>C | - | IntronicSNV | - | 1/10 |
9-131799261-C-G | MIGA2 | c.15C>G | - | synonymous_variant | 1/16 | - |
1-3199484-A-C | PRDM16 | c.438+38783A>C | - | IntronicSNV | - | 3/16 |
1-3199484-A-T | PRDM16 | c.438+38783A>T | - | IntronicSNV | - | 3/16 |
3-73643655-T-C | PDZRN3 | c.918+7850A>G | - | IntronicSNV | - | 3/9 |
21-41849478-C-T | DSCAM | c.509-108306G>A | - | IntronicSNV | - | 3/32 |
20-60235676-G-A | CDH4 | c.170-82943G>A | - | IntronicSNV | - | 2/15 |
5-148581458-C-A | ABLIM3 | c.448+1467C>A | - | IntronicSNV | - | 5/23 |
12-8086083-C-T | SLC2A3 | c.108+323G>A | - | IntronicSNV | - | 2/9 |
12-8086083-C-A | SLC2A3 | c.108+323G>T | - | IntronicSNV | - | 2/9 |
1-217754783-T-C | GPATCH2 | c.1098+28880A>G | - | IntronicSNV | - | 5/9 |
16-27832089-C-T | GSG1L | c.365+8021G>A | - | IntronicSNV | - | 4/5 |
16-11174014-G-T | CLEC16A | c.2116+19135G>T | - | IntronicSNV | - | 19/23 |
16-11174014-G-A | CLEC16A | c.2116+19135G>A | - | IntronicSNV | - | 19/23 |
18-208998-G-A | USP14 | c.1165-973G>A | - | IntronicSNV | - | 13/15 |
4-8286916-G-T | HTRA3 | c.486-1372G>T | - | IntronicSNV | - | 2/8 |
5-132693330-A-T | FSTL4 | c.410-40986T>A | - | IntronicSNV | - | 4/15 |
5-132693330-A-G | FSTL4 | c.410-40986T>C | - | IntronicSNV | - | 4/15 |
11-99525126-G-A | CNTN5 | c.55+98126G>A | - | IntronicSNV | - | 3/24 |
13-113677170-G-C | MCF2L | c.164-1788G>C | - | IntronicSNV | - | 2/29 |
2-23616976-G-A | KLHL29 | c.-154+8325G>A | - | intron_variant | - | 1/13 |
2-23616976-G-C | KLHL29 | c.-154+8325G>C | - | intron_variant | - | 1/13 |
11-132091073-C-T | NTM | c.526+9032C>T | - | IntronicSNV | - | 3/6 |
1-155819657-C-T | GON4L | c.505+3410G>A | - | IntronicSNV | - | 2/20 |
1-155819657-C-G | GON4L | c.505+3410G>C | - | IntronicSNV | - | 2/20 |
7-2643607-T-C | IQCE | c.1633-908T>C | - | IntronicSNV | - | 18/21 |
17-40461674-A-G | STAT5A | c.2222+172A>G | - | IntronicSNV | - | 19/19 |
8-69551547-T-C | C8orf34 | c.1106-1064T>C | - | IntronicSNV | - | 7/13 |
15-48554841-A-G | SLC12A1 | c.2154+3333A>G | - | IntronicSNV | - | 17/26 |
5-158408894-G-A | EBF1 | c.554+91510C>T | - | IntronicSNV | - | 6/15 |
10-102536664-G-T | PAX2 | c.411-2591G>T | - | IntronicSNV | - | 3/9 |
5-158477678-C-A | EBF1 | c.554+22726G>T | - | IntronicSNV | - | 6/15 |
5-158477678-C-T | EBF1 | c.554+22726G>A | - | IntronicSNV | - | 6/15 |
6-38536971-T-C | BTBD9 | c.950+8405A>G | - | IntronicSNV | - | 5/9 |
7-7555825-T-A | COL28A1 | c.856-354A>T | - | IntronicSNV | - | 7/34 |
7-7555825-T-C | COL28A1 | c.856-354A>G | - | IntronicSNV | - | 7/34 |
4-7625412-T-C | SORCS2 | c.649-14643T>C | - | IntronicSNV | - | 3/26 |
12-27628742-T-C | SMCO2 | c.512+78T>C | - | IntronicSNV | - | 5/8 |
10-128880582-C-T | DOCK1 | c.2382+20542C>T | - | intron_variant | - | 23/51 |
1-27786923-C-G | WASF2 | c.-44+29574G>C | - | intron_variant | - | 1/8 |
19-33490685-T-C | RHPN2 | c.1106-74A>G | - | IntronicSNV | - | 9/14 |
1-3013690-A-G | PRDM16 | c.37+27830A>G | - | IntronicSNV | - | 1/16 |
10-6274511-T-G | PFKFB3 | c.1516-347T>G | - | IntronicSNV | - | 14/14 |
2-85396407-C-G | TCF7L1 | c.441+34834C>G | - | IntronicSNV | - | 3/11 |
1-27786923-C-T | WASF2 | c.-44+29574G>A | - | intron_variant | - | 1/8 |
16-81594955-C-A | CMIP | c.19-46217C>A | - | IntronicSNV | - | 1/20 |
22-36191428-A-G | RBFOX2 | c.253-13638T>C | - | IntronicSNV | - | 2/12 |
19-56185250-G-A | U2AF2 | c.1294-50G>A | - | IntronicSNV | - | 11/11 |
10-76683785-A-T | KAT6B | c.622-35943A>T | - | IntronicSNV | - | 3/17 |
2-178700057-G-A | PDE11A | c.168+4921C>T | - | IntronicSNV | - | 3/16 |
10-74654754-G-A | OIT3 | c.61+1137G>A | - | IntronicSNV | - | 1/8 |
1-39333775-C-A | MYCBP | c.89-493G>T | - | IntronicSNV | - | 2/4 |
6-51947257-G-A | PKHD1 | c.214C>T | p.Leu72Leu | Synonymous | 4/67 | - |
19-18234441-C-T | MAST3 | c.522C>T | p.His174His | Synonymous | 7/27 | - |
18-43429966-C-T | EPG5 | c.*2466G>A | - | 3-UTRSNV | 44/44 | - |
11-111673539-A-G | ALG9 | c.1733+6828T>C | - | intron_variant | - | 15/15 |
20-50054190-G-A | NFATC2 | c.1850-1892C>T | - | IntronicSNV | - | 6/10 |
2-103056534-A-C | IL18RAP | c.731-1238A>C | - | IntronicSNV | - | 6/11 |
6-152492517-G-C | SYNE1 | c.23627+5012C>G | - | IntronicSNV | - | 130/145 |
6-152492517-G-T | SYNE1 | c.23627+5012C>A | - | IntronicSNV | - | 130/145 |
10-117300760-T-C | ATRNL1 | c.3717-8208T>C | - | IntronicSNV | - | 25/28 |
10-117300760-T-G | ATRNL1 | c.3717-8208T>G | - | IntronicSNV | - | 25/28 |
19-56185250-G-T | U2AF2 | c.1294-50G>T | - | IntronicSNV | - | 11/11 |
19-56185250-G-C | U2AF2 | c.1294-50G>C | - | IntronicSNV | - | 11/11 |
7-23757260-T-G | STK31 | c.249+62T>G | - | IntronicSNV | - | 4/23 |
20-48002575-C-T | KCNB1 | c.568-11046G>A | - | IntronicSNV | - | 1/1 |
11-117644511-C-T | DSCAML1 | c.511+2995G>A | - | intron_variant | - | 3/32 |
11-95934652-T-C | MAML2 | c.514-107971A>G | - | IntronicSNV | - | 1/4 |
11-120159052-C-T | POU2F3 | c.139-9922C>T | - | IntronicSNV | - | 3/12 |
20-15966870-G-A | MACROD2 | c.986-502G>A | - | IntronicSNV | - | 13/16 |
7-136692752-T-C | CHRM2 | c.1-6861T>C | - | IntronicSNV | - | 3/3 |
16-11660702-C-T | LITAF | c.1-10116G>A | - | IntronicSNV | - | 1/3 |
1-217781288-A-C | GPATCH2 | c.1098+2375T>G | - | IntronicSNV | - | 5/9 |
11-36175645-T-C | LDLRAD3 | c.454+55634T>C | - | IntronicSNV | - | 4/5 |
18-213827-G-A | USP14 | c.*2543G>A | - | IntergenicSNV | 16/16 | - |
11-36175645-T-A | LDLRAD3 | c.454+55634T>A | - | IntronicSNV | - | 4/5 |
1-169493953-A-C | F5 | c.5788+122T>G | - | IntronicSNV | - | 19/24 |
2-191161622-T-G | HIBCH | c.136A>C | p.Thr46Pro | Missense | 3/14 | - |
2-191161622-T-C | HIBCH | c.136A>G | p.Thr46Ala | Missense | 3/14 | - |
2-23617662-G-C | KLHL29 | c.-154+9011G>C | - | intron_variant | - | 1/13 |
9-4122302-C-G | GLIS3 | c.132-3421G>C | - | IntronicSNV | - | 2/9 |
10-5853767-T-A | GDI2 | c.45+1410A>T | - | IntronicSNV | - | 1/10 |
12-7949230-G-T | NANOG | c.*1539G>T | - | IntergenicSNV | 4/4 | - |
6-33054861-A-G | HLA-DPB1 | c.*550A>G | - | 3_prime_UTR_variant | 6/6 | - |
13-23966145-A-G | SACS | c.21-16737T>C | - | IntronicSNV | - | 2/9 |
15-60677123-C-T | ANXA2 | c.48+1104G>A | - | IntronicSNV | - | 3/13 |
9-4527201-A-C | SLC1A1 | c.92-17366A>C | - | IntronicSNV | - | 1/11 |
5-64585621-T-C | ADAMTS6 | c.1512+1535A>G | - | IntronicSNV | - | 11/24 |
11-62236094-A-G | AHNAK | c.442+23110T>C | - | IntronicSNV | - | 5/5 |
2-200214273-T-G | SATB2 | c.701-377A>C | - | IntronicSNV | - | 7/11 |
2-200214273-T-C | SATB2 | c.701-377A>G | - | IntronicSNV | - | 7/11 |
1-160142361-T-G | ATP1A4 | c.1854+814T>G | - | IntronicSNV | - | 12/21 |
15-61209011-G-A | RORA | c.167-238126C>T | - | IntronicSNV | - | 1/10 |
15-62156690-C-T | VPS13C | c.10735-963G>A | - | IntronicSNV | - | 79/82 |
14-90615225-C-T | KCNK13 | c.335-35230C>T | - | IntronicSNV | - | 1/1 |
2-47794426-T-C | KCNK12 | c.391+2654A>G | - | IntronicSNV | - | 1/1 |
4-8377058-A-T | ACOX3 | c.1654-179T>A | - | IntronicSNV | - | 14/16 |
8-13956948-G-A | SGCZ | c.744+2937C>T | - | IntronicSNV | - | 7/7 |
22-39875966-T-G | MGAT3 | c.1-7387T>G | - | IntronicSNV | - | 1/1 |
17-46381391-C-G | SKAP1 | c.280+41876G>C | - | IntronicSNV | - | 4/12 |
22-37096101-A-C | CACNG2 | c.211+2310T>G | - | IntronicSNV | - | 1/3 |
18-34154176-A-G | FHOD3 | c.512-2238A>G | - | IntronicSNV | - | 5/24 |
15-61382697-T-C | RORA | c.166+138555A>G | - | IntronicSNV | - | 1/10 |
5-148902338-G-A | CSNK1A1 | c.357+2270C>T | - | IntronicSNV | - | 3/9 |
5-171507531-T-C | STK10 | c.1989+1799A>G | - | IntronicSNV | - | 12/18 |
17-76135402-G-A | TMC8 | c.1902+81G>A | - | IntronicSNV | - | 15/15 |
4-123772018-C-A | FGF2 | c.577+23511C>A | - | IntronicSNV | - | 1/2 |
4-123772018-C-T | FGF2 | c.577+23511C>T | - | IntronicSNV | - | 1/2 |
17-76188753-C-A | AFMID | c.154+1612C>A | - | IntronicSNV | - | 2/10 |
3-160477861-T-C | PPM1L | c.399+3366T>C | - | IntronicSNV | - | 1/3 |
20-2309625-T-C | TGM3 | c.1333+614T>C | - | IntronicSNV | - | 9/12 |
13-21254518-A-G | IFT88 | c.2242+9340A>G | - | IntronicSNV | - | 24/25 |
10-71850335-T-C | H2AFY2 | c.279+413T>C | - | IntronicSNV | - | 3/8 |
1-154789875-A-G | KCNN3 | c.1029+4690T>C | - | IntronicSNV | - | 2/7 |
10-73285461-A-G | CDH23 | c.429+14492A>G | - | IntronicSNV | - | 6/13 |
10-76814527-G-C | DUPD1 | c.200+3546C>G | - | IntronicSNV | - | 1/2 |
10-76814527-G-A | DUPD1 | c.200+3546C>T | - | IntronicSNV | - | 1/2 |
15-61112722-G-A | RORA | c.167-141837C>T | - | IntronicSNV | - | 1/10 |
6-36989152-G-A | FGD2 | c.1234-136G>A | - | IntronicSNV | - | 11/15 |
10-50122109-C-T | LRRC18 | c.92G>A | p.Arg31His | Missense | 1/2 | - |
10-50122109-C-A | LRRC18 | c.92G>T | p.Arg31Leu | Missense | 1/2 | - |
13-21209637-A-T | IFT88 | c.1387-2834A>T | - | IntronicSNV | - | 16/25 |
13-21209637-A-C | IFT88 | c.1387-2834A>C | - | IntronicSNV | - | 16/25 |
13-21209637-A-G | IFT88 | c.1387-2834A>G | - | IntronicSNV | - | 16/25 |
22-38474696-A-G | SLC16A8 | c.1214T>C | p.Val405Ala | Missense | 5/5 | - |
2-85396407-C-A | TCF7L1 | c.441+34834C>A | - | IntronicSNV | - | 3/11 |
1-27772009-T-A | WASF2 | c.1-16609A>T | - | IntronicSNV | - | 1/8 |
6-25585517-A-G | CARMIL1 | c.3006+3850A>G | - | IntronicSNV | - | 31/36 |
14-80165382-G-A | NRXN3 | c.999+1102G>A | - | IntronicSNV | - | 5/6 |
3-185900713-A-G | DGKG | c.2020+5278T>C | - | IntronicSNV | - | 21/23 |
2-48899807-C-T | STON1-GTF2A1L | c.3441+988C>T | - | IntronicSNV | - | 10/10 |
5-22826121-T-C | CDH12 | c.-523+27046A>G | - | intron_variant | - | 1/14 |
2-198904914-A-G | PLCL1 | c.241-43568A>G | - | IntronicSNV | - | 1/5 |
6-167534290-G-A | CCR6 | c.-98+8788G>A | - | intron_variant | - | 1/2 |
2-103001402-C-T | IL18R1 | c.753C>T | p.Phe251Phe | Synonymous | 7/11 | - |
14-91138490-G-A | TTC7B | c.1152+4377C>T | - | IntronicSNV | - | 9/19 |
10-76601805-T-C | KAT6B | c.1-811T>C | - | IntronicSNV | - | 2/17 |
6-102500366-C-T | GRIK2 | c.2312-2839C>T | - | IntronicSNV | - | 14/16 |
1-10296452-C-T | KIF1B | c.106+3960C>T | - | IntronicSNV | - | 2/46 |
7-132294607-C-A | PLXNA4 | c.-87+36080G>T | - | intron_variant | - | 2/4 |
16-82974628-A-T | CDH13 | c.157+82550A>T | - | IntronicSNV | - | 2/13 |
1-169505158-T-C | F5 | c.4971+586A>G | - | IntronicSNV | - | 14/24 |
5-179439345-A-G | RNF130 | c.693+716T>C | - | IntronicSNV | - | 3/8 |
9-107602678-G-T | ABCA1 | c.936C>A | p.Pro312Pro | Synonymous | 9/50 | - |
10-117325021-T-C | ATRNL1 | c.3795+15975T>C | - | IntronicSNV | - | 26/28 |
15-100763824-G-A | ADAMTS17 | c.1076-24196C>T | - | IntronicSNV | - | 7/21 |
19-19033089-G-A | DDX49 | c.448-46G>A | - | IntronicSNV | - | 4/12 |
11-111668585-C-T | ALG9 | c.1734-11341G>A | - | intron_variant | - | 15/15 |
15-62155282-A-G | VPS13C | c.10823+357T>C | - | IntronicSNV | - | 80/82 |
20-60230289-A-C | CDH4 | c.170-88330A>C | - | IntronicSNV | - | 2/15 |
4-21632888-G-A | KCNIP4 | c.61+317306C>T | - | IntronicSNV | - | 1/8 |
20-60230289-A-G | CDH4 | c.170-88330A>G | - | IntronicSNV | - | 2/15 |
15-49242805-G-A | SHC4 | c.585+11823C>T | - | IntronicSNV | - | 1/11 |
5-112398085-G-T | MCC | c.2213+1596C>A | - | IntronicSNV | - | 14/18 |
5-149515074-G-A | PDGFRB | c.364+44C>T | - | IntronicSNV | - | 3/22 |
17-7988993-A-C | ALOX12B | c.352+341T>G | - | IntronicSNV | - | 2/14 |
2-45985859-A-G | PRKCE | c.349-84280A>G | - | IntronicSNV | - | 1/14 |
2-65489742-G-C | ACTR2 | c.896+1216G>C | - | IntronicSNV | - | 8/9 |
17-76135412-G-A | TMC8 | c.1902+91G>A | - | IntronicSNV | - | 15/15 |
8-27308585-A-C | PTK2B | c.2513A>C | p.Lys838Thr | Missense | 27/32 | - |
2-191300118-G-A | MFSD6 | c.1-638G>A | - | IntronicSNV | - | 2/7 |
6-97490280-T-C | KLHL32 | c.312+805T>C | - | IntronicSNV | - | 4/10 |
1-172267554-C-G | DNM3 | c.1770-10314C>G | - | IntronicSNV | - | 15/20 |
1-172267554-C-T | DNM3 | c.1770-10314C>T | - | IntronicSNV | - | 15/20 |
8-121626094-T-C | SNTB1 | c.996+18590A>G | - | IntronicSNV | - | 3/6 |
8-121626094-T-A | SNTB1 | c.996+18590A>T | - | IntronicSNV | - | 3/6 |
17-76135412-G-T | TMC8 | c.1902+91G>T | - | IntronicSNV | - | 15/15 |
7-43665808-A-G | STK17A | c.*1367A>G | - | 3-UTRSNV | 7/7 | - |
8-68464346-G-T | CPA6 | c.193-34064C>A | - | IntronicSNV | - | 2/10 |
7-107904916-C-T | NRCAM | c.1-24408G>A | - | IntergenicSNV | - | 1/32 |
20-49163235-A-C | PTPN1 | c.1-18336A>C | - | IntronicSNV | - | 1/8 |
16-85701586-C-T | GSE1 | c.3131-160C>T | - | IntronicSNV | - | 13/15 |
6-24781025-A-G | GMNN | c.129+57A>G | - | IntronicSNV | - | 3/6 |
6-36992192-T-C | FGD2 | c.1459-1376T>C | - | IntronicSNV | - | 13/15 |
12-47594463-A-G | PCED1B | c.-525-15542A>G | - | intron_variant | - | 2/3 |
19-16200378-C-T | TPM4 | c.531+448C>T | - | IntronicSNV | - | 5/7 |
2-227700818-C-G | RHBDD1 | c.-392+15C>G | - | intron_variant | - | 1/8 |
5-149509270-A-G | PDGFRB | c.1579+50T>C | - | IntronicSNV | - | 10/22 |
2-227700818-C-T | RHBDD1 | c.-392+15C>T | - | intron_variant | - | 1/8 |
10-76726096-G-T | KAT6B | c.731-3322G>T | - | IntronicSNV | - | 4/17 |
8-22466488-T-G | CCAR2 | c.584+910T>G | - | IntronicSNV | - | 7/20 |
15-61424950-A-G | RORA | c.166+96302T>C | - | IntronicSNV | - | 1/10 |
15-61424950-A-C | RORA | c.166+96302T>G | - | IntronicSNV | - | 1/10 |
5-22147164-A-G | CDH12 | c.1-68379T>C | - | IntronicSNV | - | 1/14 |
15-38786114-A-C | RASGRP1 | c.2259+469T>G | - | IntronicSNV | - | 16/16 |
11-36169869-A-G | LDLRAD3 | c.454+49858A>G | - | IntronicSNV | - | 4/5 |
18-44214176-T-G | LOXHD1 | c.511+5403A>C | - | IntronicSNV | - | 4/39 |
3-158994949-A-T | IQCJ-SCHIP1 | c.291+14477A>T | - | IntronicSNV | - | 4/10 |
1-12250888-T-C | TNFRSF1B | c.179-126T>C | - | IntronicSNV | - | 2/9 |
13-60242095-T-C | DIAPH3 | c.3320-1115A>G | - | IntronicSNV | - | 27/27 |
10-22912425-T-G | PIP4K2A | c.145-13779A>C | - | IntronicSNV | - | 1/9 |
22-36971957-A-C | CACNG2 | c.296-9417T>G | - | IntronicSNV | - | 2/3 |
11-36169869-A-T | LDLRAD3 | c.454+49858A>T | - | IntronicSNV | - | 4/5 |
16-82680391-T-C | CDH13 | c.45+19649T>C | - | IntronicSNV | - | 1/13 |
2-84746919-C-G | DNAH6 | c.225+1744C>G | - | IntronicSNV | - | 2/76 |
2-29499956-A-G | ALK | c.1818-1594T>C | - | IntronicSNV | - | 9/28 |
7-22158977-T-C | RAPGEF5 | c.*3047A>G | - | 3-UTRSNV | 26/26 | - |
3-99508768-T-C | COL8A1 | c.1-759T>C | - | IntronicSNV | - | 3/4 |
3-29850829-G-A | RBMS3 | c.634+46349G>A | - | IntronicSNV | - | 6/13 |
8-10623884-T-C | PINX1 | c.472-458A>G | - | IntronicSNV | - | 6/6 |
6-33051139-G-A | HLA-DPB1 | c.365-1588G>A | - | IntronicSNV | - | 2/5 |
2-84951917-G-T | DNAH6 | c.9972+1989G>T | - | IntronicSNV | - | 60/76 |
2-84951917-G-A | DNAH6 | c.9972+1989G>A | - | IntronicSNV | - | 60/76 |
12-69252155-T-C | CPM | c.1089+548A>G | - | IntronicSNV | - | 8/8 |
22-25161574-T-C | PIWIL3 | c.1-3108A>G | - | IntronicSNV | - | 1/20 |
1-154710904-C-G | KCNN3 | c.1449-5284G>C | - | IntronicSNV | - | 3/7 |
13-21205192-G-A | IFT88 | c.1337G>A | p.Ser446Asn | Missense | 16/26 | - |
8-134478529-G-A | ST3GAL1 | c.307-196C>T | - | IntronicSNV | - | 4/8 |
12-32397515-A-G | BICD1 | c.426+28122A>G | - | IntronicSNV | - | 2/9 |
1-65412137-T-A | JAK1 | c.-78+19879A>T | - | intron_variant | - | 1/24 |
4-38776303-T-C | TLR10 | c.909A>G | p.Lys303Lys | Synonymous | 2/2 | - |
4-38776303-T-A | TLR10 | c.909A>T | p.Lys303Asn | Missense | 2/2 | - |
6-33653111-T-C | ITPR3 | c.5308-25T>C | - | IntronicSNV | - | 39/57 |
6-33653111-T-A | ITPR3 | c.5308-25T>A | - | IntronicSNV | - | 39/57 |
13-75877076-A-C | TBC1D4 | c.2753-539T>G | - | IntronicSNV | - | 15/20 |
14-90405418-C-T | EFCAB11 | c.218-6447G>A | - | IntronicSNV | - | 3/5 |
15-67019074-T-C | SMAD6 | c.952+10238T>C | - | IntronicSNV | - | 3/3 |
20-35507735-G-A | TLDC2 | c.342+139G>A | - | IntronicSNV | - | 3/6 |
17-44828931-G-A | NSF | c.2106G>A | p.Lys702Lys | Synonymous | 19/21 | - |
15-67030866-A-G | SMAD6 | c.952+22030A>G | - | IntronicSNV | - | 3/3 |
7-71395150-G-A | CALN1 | c.501+93492C>T | - | IntronicSNV | - | 5/6 |
3-29867910-T-C | RBMS3 | c.635-42439T>C | - | IntronicSNV | - | 6/13 |
17-6378976-T-C | PITPNM3 | c.1086-1052A>G | - | IntronicSNV | - | 9/19 |
1-154739104-T-C | KCNN3 | c.1448+5347A>G | - | IntronicSNV | - | 3/7 |
1-154739104-T-A | KCNN3 | c.1448+5347A>T | - | IntronicSNV | - | 3/7 |
6-35003603-G-T | ANKS1A | c.2010+17767G>T | - | IntronicSNV | - | 11/23 |
14-24033027-G-A | AP1G2 | c.1130C>T | p.Ser377Phe | Missense | 12/22 | - |
18-46343666-C-T | CTIF | c.1446C>T | p.Cys482Cys | Synonymous | 10/12 | - |
18-46247081-C-T | CTIF | c.584+9015C>T | - | IntronicSNV | - | 7/11 |
10-74684417-A-G | OIT3 | c.1367+15A>G | - | IntronicSNV | - | 7/8 |
1-169823718-T-C | SCYL3 | c.1862A>G | p.Gln621Arg | Missense | 13/14 | - |
22-31598367-C-T | RNF185 | c.481+766C>T | - | IntronicSNV | - | 6/6 |
1-198632356-C-T | PTPRC | c.73+23885C>T | - | IntronicSNV | - | 2/32 |
10-6520458-A-G | PRKCQ | c.1353+496T>C | - | IntronicSNV | - | 12/17 |
3-24350811-A-G | THRB | c.-43+27980T>C | - | intron_variant | - | 2/9 |
19-19017862-G-A | COPE | c.350C>T | p.Thr117Ile | Missense | 4/10 | - |
1-207670928-A-G | CR1 | c.121+1195A>G | - | IntronicSNV | - | 1/38 |
14-94233400-C-T | PRIMA1 | c.229+12122G>A | - | IntronicSNV | - | 3/4 |
3-56241912-A-G | ERC2 | c.1075-34364T>C | - | IntronicSNV | - | 3/17 |
4-8377058-A-G | ACOX3 | c.1654-179T>C | - | IntronicSNV | - | 14/16 |
11-36158694-G-T | LDLRAD3 | c.454+38683G>T | - | IntronicSNV | - | 4/5 |
2-84785748-G-T | DNAH6 | c.1803+689G>T | - | IntronicSNV | - | 11/76 |
1-154692269-T-G | KCNN3 | c.1702-4790A>C | - | IntronicSNV | - | 5/7 |
22-37081695-T-C | CACNG2 | c.211+16716A>G | - | IntronicSNV | - | 1/3 |
8-22595828-G-A | PEBP4 | c.358-11095C>T | - | IntronicSNV | - | 4/6 |
20-45210087-A-G | SLC13A3 | c.1078+2124T>C | - | IntronicSNV | - | 10/13 |
22-37096101-A-T | CACNG2 | c.211+2310T>A | - | IntronicSNV | - | 1/3 |
12-26545818-G-A | ITPR2 | c.7697-5291C>T | - | IntronicSNV | - | 54/56 |
3-17077731-C-T | PLCL2 | c.3019-6635C>T | - | intron_variant | - | 6/8 |
7-129360201-G-A | NRF1 | c.1223+2985G>A | - | IntronicSNV | - | 9/10 |
8-100350744-T-C | VPS13B | c.2825-45692T>C | - | IntronicSNV | - | 19/61 |
5-149480879-T-C | CSF1R | c.-181+11945A>G | - | intron_variant | - | 1/21 |
5-132866184-T-C | FSTL4 | c.160+36693A>G | - | IntronicSNV | - | 3/15 |
1-113456546-A-T | SLC16A1 | c.1470T>A | p.Asp490Glu | Missense | 5/5 | - |
1-57501277-C-T | DAB1 | c.724-9561G>A | - | IntronicSNV | - | 11/16 |
11-36226559-C-T | LDLRAD3 | c.455-22076C>T | - | IntronicSNV | - | 4/5 |
19-50203553-T-C | CPT1C | c.282-388T>C | - | IntronicSNV | - | 3/18 |
8-23249947-G-A | LOXL2 | c.-84+11520C>T | - | intron_variant | - | 1/13 |
13-21146232-A-G | IFT88 | c.1-2293A>G | - | IntronicSNV | - | 1/25 |
7-28093594-T-G | JAZF1 | c.116-61994A>C | - | IntronicSNV | - | 1/4 |
8-73658605-T-C | KCNB2 | c.579+178057T>C | - | IntronicSNV | - | 2/2 |
4-8392821-A-G | ACOX3 | c.1300+1239T>C | - | IntronicSNV | - | 11/16 |
22-47562476-G-A | TBC1D22A | c.1426-6665G>A | - | IntronicSNV | - | 12/12 |
22-47562476-G-C | TBC1D22A | c.1426-6665G>C | - | IntronicSNV | - | 12/12 |
18-47409179-G-A | MYO5B | c.3046-2354C>T | - | IntronicSNV | - | 22/39 |
1-65412137-T-G | JAK1 | c.-78+19879A>C | - | intron_variant | - | 1/24 |
12-26193621-T-G | RASSF8 | c.1-14656T>G | - | IntronicSNV | - | 2/5 |
3-55571517-A-T | ERC2 | c.*40-26213T>A | - | intron_variant | - | 17/17 |
11-108577935-C-T | DDX10 | c.1322+371C>T | - | IntronicSNV | - | 10/17 |
3-119269112-A-T | CD80 | c.101-5398T>A | - | IntronicSNV | - | 2/6 |
2-238990388-G-A | SCLY | c.523G>A | - | missense_variant | 5/12 | - |
3-119269112-A-G | CD80 | c.101-5398T>C | - | IntronicSNV | - | 2/6 |
2-191398545-G-A | NEMP2 | c.97+740C>T | - | IntronicSNV | - | 1/8 |
9-92012720-C-T | SEMA4D | c.316-970G>A | - | IntronicSNV | - | 7/17 |
12-69125838-A-T | NUP107 | c.1998+339A>T | - | IntronicSNV | - | 22/27 |
10-61000602-G-A | PHYHIPL | c.596+2137G>A | - | IntronicSNV | - | 4/4 |
19-8298411-G-A | CERS4 | c.1-17550G>A | - | IntronicSNV | - | 2/11 |
12-69125838-A-G | NUP107 | c.1998+339A>G | - | IntronicSNV | - | 22/27 |
8-72220079-G-A | EYA1 | c.557-8124C>T | - | IntronicSNV | - | 7/17 |
2-191226886-A-G | INPP1 | c.205-467A>G | - | IntronicSNV | - | 3/6 |
17-73785718-G-A | UNK | c.104+4653G>A | - | IntronicSNV | - | 1/15 |
8-22578872-A-C | PEBP4 | c.517+3484T>G | - | IntronicSNV | - | 6/6 |
11-10658735-A-G | MRVI1 | c.199-3117T>C | - | IntronicSNV | - | 1/19 |
11-11558740-C-A | GALNT18 | c.235+84166G>T | - | IntronicSNV | - | 1/10 |
9-78566867-T-C | PCSK5 | c.297+19468T>C | - | IntronicSNV | - | 2/36 |
15-91785293-G-A | SV2B | c.452-9756G>A | - | IntronicSNV | - | 3/13 |
6-118440018-A-G | SLC35F1 | c.174-35590A>G | - | IntronicSNV | - | 1/7 |
11-112987874-T-C | NCAM1 | c.53-85227T>C | - | intron_variant | - | 2/19 |
12-113672577-T-C | TPCN1 | c.112+7808T>C | - | IntronicSNV | - | 2/27 |
11-60715712-C-T | SLC15A3 | c.559-1419G>A | - | IntronicSNV | - | 1/7 |
8-69516994-A-C | C8orf34 | c.1106-35617A>C | - | IntronicSNV | - | 7/13 |
2-191226886-A-T | INPP1 | c.205-467A>T | - | IntronicSNV | - | 3/6 |
4-7434607-C-A | PSAPL1 | c.*434G>T | - | 3-UTRSNV | 1/1 | - |
3-159582382-A-T | IQCJ-SCHIP1 | c.988-1570A>T | - | IntronicSNV | - | 5/10 |
7-122471381-G-T | CADPS2 | c.339+54672C>A | - | IntronicSNV | - | 1/29 |
1-231912592-T-C | DISC1 | c.1634+5776T>C | - | IntronicSNV | - | 6/12 |
4-8455245-G-A | TRMT44 | c.1131+529G>A | - | IntronicSNV | - | 5/10 |
12-25657520-T-C | LMNTD1 | c.1127-786A>G | - | IntronicSNV | - | 7/8 |
7-129068978-G-A | AHCYL2 | c.*2092G>A | - | 3-UTRSNV | 17/17 | - |
4-71265840-C-T | OPRPN | c.51+787C>T | - | IntronicSNV | - | 2/2 |
6-132681877-C-A | MOXD1 | c.663+11870G>T | - | IntronicSNV | - | 4/11 |
4-145601863-A-G | HHIP | c.831+20873A>G | - | IntronicSNV | - | 4/12 |
20-20260314-G-A | CFAP61 | c.2796+2212G>A | - | IntronicSNV | - | 22/26 |
20-20260314-G-C | CFAP61 | c.2796+2212G>C | - | IntronicSNV | - | 22/26 |
22-28170217-C-T | MN1 | c.3781+22534G>A | - | IntronicSNV | - | 1/1 |
20-15436002-G-A | MACROD2 | c.571+23922G>A | - | IntronicSNV | - | 7/16 |
5-132642611-T-C | FSTL4 | c.727+5735A>G | - | IntronicSNV | - | 6/15 |
5-132642611-T-A | FSTL4 | c.727+5735A>T | - | IntronicSNV | - | 6/15 |
1-10370312-T-C | KIF1B | c.1978-9789T>C | - | IntronicSNV | - | 20/46 |
18-264012-G-A | THOC1 | c.256+14C>T | - | IntronicSNV | - | 4/20 |
21-22881251-A-G | NCAM2 | c.2157A>G | p.Thr719Thr | Synonymous | 16/18 | - |
1-154505886-A-G | TDRD10 | c.370-8614A>G | - | IntronicSNV | - | 6/12 |
20-59897971-T-C | CDH4 | c.169+67978T>C | - | IntronicSNV | - | 2/15 |
2-215439708-A-G | VWC2L | c.521-688A>G | - | IntronicSNV | - | 3/3 |
7-128957954-G-A | AHCYL2 | c.364-61528G>A | - | IntronicSNV | - | 1/16 |
16-1904506-G-A | MEIOB | c.529-305C>T | - | IntronicSNV | - | 6/12 |
1-158601055-T-G | SPTA1 | c.5565+3278A>C | - | IntronicSNV | - | 39/51 |
19-17321669-A-T | MYO9B | c.5930+12A>T | - | IntronicSNV | - | 38/39 |
16-81595186-G-A | CMIP | c.19-45986G>A | - | IntronicSNV | - | 1/20 |
9-17271858-A-G | CNTLN | c.850-1873A>G | - | IntronicSNV | - | 5/25 |
9-17271858-A-T | CNTLN | c.850-1873A>T | - | IntronicSNV | - | 5/25 |
11-63797679-T-C | MACROD1 | c.518-14926A>G | - | IntronicSNV | - | 3/10 |
8-10123027-C-T | MSRA | c.331+20294C>T | - | IntronicSNV | - | 3/5 |
1-68273780-T-G | GNG12 | c.-77+25247A>C | - | intron_variant | - | 1/3 |
8-23304456-C-A | ENTPD4 | c.412+737G>T | - | IntronicSNV | - | 4/12 |
17-40290552-T-C | RAB5C | c.1-8032A>G | - | IntronicSNV | - | 1/5 |
18-44147456-G-A | LOXHD1 | c.2245-1044C>T | - | IntronicSNV | - | 16/39 |
18-44111608-A-T | LOXHD1 | c.4375+1517T>A | - | IntronicSNV | - | 28/39 |
12-26749137-T-C | ITPR2 | c.4255-614A>G | - | IntronicSNV | - | 31/56 |
3-159582382-A-G | IQCJ-SCHIP1 | c.988-1570A>G | - | IntronicSNV | - | 5/10 |
17-64582171-A-G | PRKCA | c.289-55302A>G | - | IntronicSNV | - | 3/16 |
17-38062196-G-A | GSDMB | c.865C>T | p.Pro289Ser | Missense | 6/8 | - |
10-76683785-A-G | KAT6B | c.622-35943A>G | - | IntronicSNV | - | 3/17 |
15-60678350-T-C | ANXA2 | c.1-76A>G | - | IntronicSNV | - | 2/13 |
1-169823718-T-G | SCYL3 | c.1862A>C | p.Gln621Pro | Missense | 13/14 | - |
1-169823718-T-A | SCYL3 | c.1862A>T | p.Gln621Leu | Missense | 13/14 | - |
1-201764737-A-C | NAV1 | c.3517+1032A>C | - | IntronicSNV | - | 15/29 |
14-34224134-A-C | NPAS3 | c.853-19409A>C | - | IntronicSNV | - | 7/11 |
1-57872825-T-C | DAB1 | c.1-116123A>G | - | IntronicSNV | - | 3/16 |
1-154516578-G-A | TDRD10 | c.643G>A | p.Val215Ile | Missense | 9/13 | - |
7-128880489-T-G | AHCYL2 | c.363+15209T>G | - | IntronicSNV | - | 1/16 |
8-68927592-C-T | PREX2 | c.142-2489C>T | - | IntronicSNV | - | 1/23 |
10-22240299-C-T | DNAJC1 | c.223-22229G>A | - | IntronicSNV | - | 1/11 |
9-4100236-C-T | GLIS3 | c.1245+17532G>A | - | IntronicSNV | - | 3/9 |
7-128880489-T-C | AHCYL2 | c.363+15209T>C | - | IntronicSNV | - | 1/16 |
7-116949286-C-T | WNT2 | c.588+5839G>A | - | IntronicSNV | - | 3/4 |
16-87948495-A-T | CA5A | c.341-9985T>A | - | IntronicSNV | - | 2/6 |
6-16420489-T-C | ATXN1 | c.-161+65714A>G | - | intron_variant | - | 7/8 |
3-159455723-C-T | IQCJ-SCHIP1 | c.292-26509C>T | - | IntronicSNV | - | 4/10 |
15-67465363-G-C | SMAD3 | c.658+2421G>C | - | IntronicSNV | - | 5/8 |
8-68939640-T-C | PREX2 | c.543+82T>C | - | IntronicSNV | - | 5/23 |
6-132681877-C-T | MOXD1 | c.663+11870G>A | - | IntronicSNV | - | 4/11 |
6-36270668-G-A | PNPLA1 | c.1099+422G>A | - | IntronicSNV | - | 6/7 |
11-120130512-A-G | POU2F3 | c.104-9407A>G | - | IntronicSNV | - | 2/12 |
3-30721201-A-G | TGFBR2 | c.1471+5463A>G | - | IntronicSNV | - | 6/7 |
18-74081684-C-T | ZNF516 | c.3432+799G>A | - | intron_variant | - | 7/7 |
2-46537604-A-G | EPAS1 | c.26+12528A>G | - | IntronicSNV | - | 1/15 |
2-85059063-G-A | TRABD2A | c.935+116C>T | - | IntronicSNV | - | 4/5 |
16-87948495-A-G | CA5A | c.341-9985T>C | - | IntronicSNV | - | 2/6 |
19-18101830-A-C | KCNN1 | c.1298+1178A>C | - | IntronicSNV | - | 8/10 |
17-39670098-G-T | KRT15 | c.*177C>A | - | 3-UTRSNV | 8/8 | - |
10-105401191-A-G | SH3PXD2A | c.605-14232T>C | - | IntronicSNV | - | 8/13 |
15-67465363-G-A | SMAD3 | c.658+2421G>A | - | IntronicSNV | - | 5/8 |
11-120094570-C-T | OAF | c.232-1800C>T | - | IntronicSNV | - | 1/3 |
3-30721201-A-T | TGFBR2 | c.1471+5463A>T | - | IntronicSNV | - | 6/7 |
1-201340813-G-A | TNNT2 | c.67+342C>T | - | IntronicSNV | - | 4/15 |
6-36740367-C-G | CPNE5 | c.737+2371G>C | - | IntronicSNV | - | 10/20 |
9-4122302-C-T | GLIS3 | c.132-3421G>A | - | IntronicSNV | - | 2/9 |
11-20692208-A-G | NELL1 | c.55+884A>G | - | IntronicSNV | - | 1/19 |
6-36740367-C-T | CPNE5 | c.737+2371G>A | - | IntronicSNV | - | 10/20 |
2-84810591-A-G | DNAH6 | c.2230-532A>G | - | IntronicSNV | - | 14/76 |
1-155031376-C-T | ADAM15 | c.1995+113C>T | - | IntronicSNV | - | 16/20 |
15-60683949-G-A | ANXA2 | c.-12+5508C>T | - | intron_variant | - | 2/13 |
6-35004819-C-T | ANKS1A | c.2011-17057C>T | - | IntronicSNV | - | 11/23 |
2-45997867-T-C | PRKCE | c.349-72272T>C | - | IntronicSNV | - | 1/14 |
15-59478485-G-A | MYO1E | c.1904+1832C>T | - | IntronicSNV | - | 18/27 |
8-22385061-T-C | PPP3CC | c.1069+31T>C | - | IntronicSNV | - | 9/13 |
6-106769642-T-C | ATG5 | c.-59+3759A>G | - | intron_variant | - | 1/7 |
3-55571517-A-C | ERC2 | c.*40-26213T>G | - | intron_variant | - | 17/17 |
15-74281848-T-C | STOML1 | c.241-250A>G | - | IntronicSNV | - | 2/6 |
17-31759144-C-T | ASIC2 | c.556-320059G>A | - | IntronicSNV | - | 1/9 |
6-36757266-T-G | CPNE5 | c.528+2544A>C | - | IntronicSNV | - | 8/20 |
5-31804351-G-A | PDZD2 | c.476+4520G>A | - | IntronicSNV | - | 2/24 |
22-38474696-A-C | SLC16A8 | c.1214T>G | p.Val405Gly | Missense | 5/5 | - |
17-40499533-T-C | STAT3 | c.129-802A>G | - | IntronicSNV | - | 2/23 |
6-5362054-G-T | FARS2 | c.1-6750G>T | - | IntronicSNV | - | 1/6 |
12-76781215-A-C | OSBPL8 | c.1353-775T>G | - | IntronicSNV | - | 12/23 |
7-7618720-A-G | MIOS | c.1394-4029A>G | - | IntronicSNV | - | 5/12 |
8-56229879-G-A | XKR4 | c.807-40359G>A | - | IntronicSNV | - | 1/2 |
6-31638848-C-T | LY6G5B | c.58+63C>T | - | IntronicSNV | - | 1/2 |
1-21584585-A-G | ECE1 | c.763-502T>C | - | IntronicSNV | - | 6/18 |
19-11364495-C-T | DOCK6 | c.45-93G>A | - | IntronicSNV | - | 1/47 |
12-119550956-A-G | SRRM4 | c.279-1127A>G | - | IntronicSNV | - | 2/12 |
16-81573632-C-T | CMIP | c.18+44533C>T | - | IntronicSNV | - | 1/20 |
20-15817106-G-A | MACROD2 | c.646-26284G>A | - | IntronicSNV | - | 8/16 |
12-96360473-C-T | AMDHD1 | c.1193+187C>T | - | IntronicSNV | - | 8/8 |
1-85924464-T-C | DDAH1 | c.-7+37385A>G | - | intron_variant | - | 2/6 |
3-64205332-C-T | PRICKLE2 | c.-41+5254G>A | - | intron_variant | - | 1/7 |
3-64205332-C-G | PRICKLE2 | c.-41+5254G>C | - | intron_variant | - | 1/7 |
8-22466488-T-C | CCAR2 | c.584+910T>C | - | IntronicSNV | - | 7/20 |
11-102063437-G-A | YAP1 | c.689-13187G>A | - | IntronicSNV | - | 3/6 |
4-8280040-C-T | HTRA3 | c.386-4124C>T | - | IntronicSNV | - | 1/8 |
11-120107411-G-C | POU2F3 | c.29G>C | p.Gly10Ala | Missense | 1/13 | - |
1-11797186-T-C | AGTRAP | c.27+894T>C | - | IntronicSNV | - | 1/4 |
8-32066467-T-G | NRG1 | c.38-386879T>G | - | IntronicSNV | - | 1/11 |
18-44118919-T-C | LOXHD1 | c.3914-619A>G | - | IntronicSNV | - | 25/39 |
3-55571760-G-T | ERC2 | c.*40-26456C>A | - | intron_variant | - | 17/17 |
1-154807018-A-G | KCNN3 | c.934-12358T>C | - | IntronicSNV | - | 1/7 |
10-6497307-C-T | PRKCQ | c.1647+1329G>A | - | IntronicSNV | - | 15/17 |
3-55571760-G-A | ERC2 | c.*40-26456C>T | - | intron_variant | - | 17/17 |
14-90599270-A-G | KCNK13 | c.335-51185A>G | - | IntronicSNV | - | 1/1 |
1-114681932-T-C | SYT6 | c.257+305A>G | - | IntronicSNV | - | 2/7 |
6-42161292-T-C | GUCA1B | c.207+1060A>G | - | IntronicSNV | - | 1/3 |
21-22809679-T-C | NCAM2 | c.1654+5078T>C | - | IntronicSNV | - | 12/17 |
15-67008708-G-A | SMAD6 | c.875-51G>A | - | IntronicSNV | - | 2/3 |
12-7053908-C-T | C12orf57 | c.229+93C>T | - | IntronicSNV | - | 2/2 |
12-7053908-C-G | C12orf57 | c.229+93C>G | - | IntronicSNV | - | 2/2 |
15-74303349-C-A | PML | c.603-11820C>A | - | IntronicSNV | - | 2/7 |
1-67702526-T-G | IL23R | c.1045+41T>G | - | IntronicSNV | - | 8/10 |
16-24202615-A-G | PRKCB | c.1863+64A>G | - | IntronicSNV | - | 16/16 |
2-63596836-A-T | WDPCP | c.1748+8685T>A | - | IntronicSNV | - | 12/17 |
2-46128458-G-T | PRKCE | c.412+58256G>T | - | IntronicSNV | - | 2/14 |
9-135226280-T-A | SETX | c.1-1465A>T | - | IntronicSNV | - | 2/25 |
4-8106249-G-C | ABLIM2 | c.154+1972C>G | - | IntronicSNV | - | 2/20 |
4-8106249-G-A | ABLIM2 | c.154+1972C>T | - | IntronicSNV | - | 2/20 |
18-67315307-A-G | DOK6 | c.290-29663A>G | - | IntronicSNV | - | 3/7 |
6-151280919-T-C | MTHFD1L | c.1804-492T>C | - | IntronicSNV | - | 17/27 |
4-7279707-C-T | SORCS2 | c.480+84854C>T | - | IntronicSNV | - | 1/26 |
10-6621773-T-C | PRKCQ | c.-10+400A>G | - | intron_variant | - | 1/17 |
9-8339606-C-A | PTPRD | c.4024-559G>T | - | IntronicSNV | - | 26/29 |
12-52681925-A-T | KRT81 | c.743T>A | p.Leu248His | Missense | 5/9 | - |
17-26216786-A-G | LYRM9 | c.-19+3557T>C | - | intron_variant | - | 1/3 |
10-33236305-T-C | ITGB1 | c.-1+10768A>G | - | intron_variant | - | 1/15 |
12-52681925-A-C | KRT81 | c.743T>G | p.Leu248Arg | Missense | 5/9 | - |
2-178540293-A-G | PDE11A | c.1092-47T>C | - | IntronicSNV | - | 13/16 |
4-8033388-C-T | ABLIM2 | c.1048-1885G>A | - | IntronicSNV | - | 10/20 |
11-6563565-A-G | DNHD1 | c.3629-1786A>G | - | IntronicSNV | - | 18/42 |
13-24201883-G-A | TNFRSF19 | c.445+952G>A | - | IntronicSNV | - | 5/8 |
1-39357646-C-A | RHBDL2 | c.670+1190G>T | - | IntronicSNV | - | 6/7 |
22-26774580-A-G | SEZ6L | c.3042+839A>G | - | IntronicSNV | - | 16/16 |
12-8088227-T-C | SLC2A3 | c.15+389A>G | - | IntronicSNV | - | 1/9 |
5-115885672-G-T | SEMA6A | c.-39+24209C>A | - | intron_variant | - | 1/18 |
10-27693305-G-A | PTCHD3 | c.1212-1019C>T | - | IntronicSNV | - | 2/3 |
4-88724600-C-A | IBSP | c.183+717C>A | - | IntronicSNV | - | 4/6 |
1-66269066-T-G | PDE4B | c.-71+10135T>G | - | intron_variant | - | 1/16 |
14-90467992-A-C | TDP1 | c.1541+8165A>C | - | IntronicSNV | - | 14/16 |
11-111625566-T-C | PPP2R1B | c.958+138A>G | - | IntronicSNV | - | 7/14 |
16-79628181-T-C | MAF | c.*4497A>G | - | 3-UTRSNV | 1/1 | - |
12-27494449-C-T | ARNTL2 | c.31+8413C>T | - | IntronicSNV | - | 1/16 |
10-7941981-A-G | TAF3 | c.410-63902A>G | - | IntronicSNV | - | 2/6 |
7-129148058-A-T | SMKR1 | c.4-4030A>T | - | IntronicSNV | - | 1/1 |
7-129148058-A-G | SMKR1 | c.4-4030A>G | - | IntronicSNV | - | 1/1 |
2-110033831-C-T | SH3RF3 | c.1300-2164C>T | - | IntronicSNV | - | 4/9 |
4-8280040-C-G | HTRA3 | c.386-4124C>G | - | IntronicSNV | - | 1/8 |
22-36597881-G-T | APOL4 | c.44+158C>A | - | IntronicSNV | - | 2/5 |
21-41852932-A-C | DSCAM | c.509-111760T>G | - | IntronicSNV | - | 3/32 |
15-67442386-A-G | SMAD3 | c.207-14847A>G | - | IntronicSNV | - | 1/8 |
1-164656976-T-C | PBX1 | c.266-104755T>C | - | IntronicSNV | - | 2/8 |
12-113798712-T-C | PLBD2 | c.290+2017T>C | - | IntronicSNV | - | 1/11 |
8-22962348-T-G | TNFRSF10C | c.60+1654T>G | - | IntronicSNV | - | 1/4 |
15-67442386-A-T | SMAD3 | c.207-14847A>T | - | IntronicSNV | - | 1/8 |
5-140902116-T-A | DIAPH1 | c.3661+1594A>T | - | IntronicSNV | - | 27/27 |
7-128368205-T-C | FAM71F1 | c.853+1280T>C | - | IntronicSNV | - | 5/6 |
15-60862962-A-G | RORA | c.197-38912T>C | - | IntronicSNV | - | 2/10 |
15-61112722-G-T | RORA | c.167-141837C>A | - | IntronicSNV | - | 1/10 |
20-59897971-T-G | CDH4 | c.169+67978T>G | - | IntronicSNV | - | 2/15 |
1-154791128-G-C | KCNN3 | c.1029+3437C>G | - | IntronicSNV | - | 2/7 |
12-9314857-T-C | PZP | c.2788+336A>G | - | IntronicSNV | - | 22/35 |
12-115118997-G-A | TBX3 | c.390-46C>T | - | IntronicSNV | - | 1/6 |
15-62338797-G-T | VPS13C | c.101-2343C>A | - | IntronicSNV | - | 1/82 |
19-17321669-A-G | MYO9B | c.5930+12A>G | - | IntronicSNV | - | 38/39 |
6-33543409-A-C | BAK1 | c.206+161T>G | - | IntronicSNV | - | 3/5 |
2-45950270-T-G | PRKCE | c.348+70683T>G | - | IntronicSNV | - | 1/14 |
19-16869466-C-T | NWD1 | c.1770-570C>T | - | IntronicSNV | - | 6/18 |
5-115321484-G-A | LVRN | c.978+1078G>A | - | IntronicSNV | - | 3/19 |
11-120161117-G-A | POU2F3 | c.139-7857G>A | - | IntronicSNV | - | 3/12 |
1-198188749-G-A | NEK7 | c.1-12962G>A | - | IntronicSNV | - | 1/9 |
10-105763026-C-T | SLK | c.2090C>T | p.Thr697Ile | Missense | 9/19 | - |
16-55723942-C-T | SLC6A2 | c.784-1888C>T | - | IntronicSNV | - | 4/13 |
7-128363287-G-A | FAM71F1 | c.724G>A | p.Glu242Lys | Missense | 4/7 | - |
2-191226742-A-T | INPP1 | c.205-611A>T | - | IntronicSNV | - | 3/6 |
17-77192048-A-G | RBFOX3 | c.-34+39800T>C | - | intron_variant | - | 4/14 |
17-77192048-A-C | RBFOX3 | c.-34+39800T>G | - | intron_variant | - | 4/14 |
12-133511966-G-A | ZNF605 | c.16-2225C>T | - | IntronicSNV | - | 3/4 |
2-23617662-G-A | KLHL29 | c.-154+9011G>A | - | intron_variant | - | 1/13 |
2-191226742-A-G | INPP1 | c.205-611A>G | - | IntronicSNV | - | 3/6 |
6-33047031-T-C | HLA-DPB1 | c.101-1418T>C | - | IntronicSNV | - | 1/5 |
2-46548906-A-C | EPAS1 | c.26+23830A>C | - | IntronicSNV | - | 1/15 |
17-64582171-A-C | PRKCA | c.289-55302A>C | - | IntronicSNV | - | 3/16 |
1-237413292-G-C | RYR2 | c.49-20505G>C | - | IntronicSNV | - | 1/104 |
1-12128498-G-A | TNFRSF8 | c.63+4780G>A | - | IntronicSNV | - | 1/14 |
5-132758905-G-A | FSTL4 | c.161-22227C>T | - | IntronicSNV | - | 3/15 |
5-149575702-C-T | SLC6A7 | c.218-577C>T | - | IntronicSNV | - | 2/13 |
15-61434581-A-T | RORA | c.166+86671T>A | - | IntronicSNV | - | 1/10 |
2-84756049-G-A | DNAH6 | c.421G>A | p.Val141Met | Missense | 4/77 | - |
3-122815872-A-G | PDIA5 | c.257+4583A>G | - | IntronicSNV | - | 3/16 |
15-61302046-T-C | RORA | c.166+219206A>G | - | IntronicSNV | - | 1/10 |
3-60123504-G-A | FHIT | c.104-123626C>T | - | IntronicSNV | - | 5/9 |
11-120148845-A-T | POU2F3 | c.138+8892A>T | - | IntronicSNV | - | 3/12 |
4-7428355-T-G | SORCS2 | c.548+30273T>G | - | IntronicSNV | - | 2/26 |
4-7428355-T-A | SORCS2 | c.548+30273T>A | - | IntronicSNV | - | 2/26 |
5-70827975-G-A | BDP1 | c.5773-160G>A | - | IntronicSNV | - | 25/38 |
2-103042712-G-A | IL18RAP | c.579+1838G>A | - | IntronicSNV | - | 5/11 |
1-163308256-A-G | NUF2 | c.509+373A>G | - | IntronicSNV | - | 7/13 |
15-61272737-T-C | RORA | c.166+248515A>G | - | IntronicSNV | - | 1/10 |
10-76618808-C-T | KAT6B | c.621+15572C>T | - | IntronicSNV | - | 3/17 |
7-22268760-C-A | RAPGEF5 | c.870+1705G>T | - | intron_variant | - | 8/25 |
10-6566975-T-C | PRKCQ | c.1-9878A>G | - | IntronicSNV | - | 1/17 |
17-40274873-A-C | HSPB9 | c.5A>C | p.Gln2Pro | Missense | 1/1 | - |
4-7607757-A-G | SORCS2 | c.649-32298A>G | - | IntronicSNV | - | 3/26 |
6-167461562-C-T | FGFR1OP | c.*8096C>T | - | IntergenicSNV | 13/13 | - |
2-141800473-G-T | LRP1B | c.1789+6082C>A | - | IntronicSNV | - | 11/90 |
5-132561277-G-A | FSTL4 | c.1177+73C>T | - | IntronicSNV | - | 9/15 |
2-141800473-G-A | LRP1B | c.1789+6082C>T | - | IntronicSNV | - | 11/90 |
2-84839270-C-T | DNAH6 | c.3475+292C>T | - | IntronicSNV | - | 22/76 |
18-44215806-A-C | LOXHD1 | c.511+3773T>G | - | IntronicSNV | - | 4/39 |
15-61394875-C-T | RORA | c.166+126377G>A | - | IntronicSNV | - | 1/10 |
16-55720034-C-T | SLC6A2 | c.783+841C>T | - | IntronicSNV | - | 4/13 |
21-34657687-T-C | IL10RB | c.646+2141T>C | - | IntronicSNV | - | 5/6 |
4-66332919-G-T | EPHA5 | c.1402+23176C>A | - | IntronicSNV | - | 5/17 |
14-31380191-T-G | STRN3 | c.1468+56A>C | - | IntronicSNV | - | 11/15 |
7-15598156-A-G | AGMO | c.257+1610T>C | - | IntronicSNV | - | 2/12 |
15-61047930-C-A | RORA | c.167-77045G>T | - | IntronicSNV | - | 1/10 |
18-44117578-T-C | LOXHD1 | c.4095+541A>G | - | IntronicSNV | - | 26/39 |
6-106687379-A-G | ATG5 | c.573+8646T>C | - | IntronicSNV | - | 6/7 |
5-132885741-T-A | FSTL4 | c.160+17136A>T | - | IntronicSNV | - | 3/15 |
2-3479959-T-C | TRAPPC12 | c.1777-1507T>C | - | IntronicSNV | - | 9/11 |
18-44223365-G-T | LOXHD1 | c.246-1366C>A | - | IntronicSNV | - | 2/39 |
18-44223365-G-A | LOXHD1 | c.246-1366C>T | - | IntronicSNV | - | 2/39 |
9-99031628-G-A | HSD17B3 | c.202-14403C>T | - | IntronicSNV | - | 2/10 |
10-131512933-C-T | MGMT | c.274+6626C>T | - | intron_variant | - | 3/4 |
9-4577130-T-C | SLC1A1 | c.1193+367T>C | - | IntronicSNV | - | 10/11 |
18-10485250-A-G | APCDD1 | c.775-209A>G | - | IntronicSNV | - | 3/4 |
7-150217089-G-A | GIMAP7 | c.27G>A | p.Leu9Leu | Synonymous | 2/2 | - |
18-10485250-A-T | APCDD1 | c.775-209A>T | - | IntronicSNV | - | 3/4 |
14-90583039-G-A | KCNK13 | c.334+54156G>A | - | IntronicSNV | - | 1/1 |
8-4146236-A-G | CSMD1 | c.415+131239T>C | - | IntronicSNV | - | 3/69 |
12-47212370-A-G | SLC38A4 | c.-113+7316T>C | - | intron_variant | - | 1/15 |
21-31018770-G-T | GRIK1 | c.955-3481C>A | - | IntronicSNV | - | 6/16 |
6-129906653-T-C | ARHGAP18 | c.1714-1396A>G | - | IntronicSNV | - | 12/14 |
2-110011486-T-C | SH3RF3 | c.946-3560T>C | - | IntronicSNV | - | 3/9 |
20-60222888-A-G | CDH4 | c.170-95731A>G | - | IntronicSNV | - | 2/15 |
16-82681844-C-T | CDH13 | c.45+21102C>T | - | IntronicSNV | - | 1/13 |
6-43238609-C-T | TTBK1 | c.1986+7521C>T | - | IntronicSNV | - | 13/14 |
20-36466571-G-A | CTNNBL1 | c.1214-1933G>A | - | IntronicSNV | - | 11/15 |
18-44092023-T-G | LOXHD1 | c.5214-2245A>C | - | IntronicSNV | - | 33/39 |
13-21164690-C-T | IFT88 | c.211-416C>T | - | IntronicSNV | - | 4/25 |
18-74081272-G-A | ZNF516 | c.3432+1211C>T | - | intron_variant | - | 7/7 |
1-900505-G-C | KLHL17 | c.1863G>C | p.Val621Val | Synonymous | 12/12 | - |
11-125911307-C-G | CDON | c.1-17936G>C | - | IntronicSNV | - | 1/19 |
11-119994421-C-T | TRIM29 | c.1334-658G>A | - | IntronicSNV | - | 4/8 |
11-125911307-C-A | CDON | c.1-17936G>T | - | IntronicSNV | - | 1/19 |
4-7522239-C-T | SORCS2 | c.549-11018C>T | - | IntronicSNV | - | 2/26 |
9-131799261-C-A | MIGA2 | c.15C>A | - | synonymous_variant | 1/16 | - |
20-44051444-G-A | PIGT | c.1234+1221G>A | - | IntronicSNV | - | 9/11 |
15-67389161-A-G | SMAD3 | c.206+30463A>G | - | IntronicSNV | - | 1/8 |
8-23049292-C-T | TNFRSF10A | c.1322G>A | p.Arg441Lys | Missense | 10/10 | - |
3-29851445-G-A | RBMS3 | c.634+46965G>A | - | IntronicSNV | - | 6/13 |
22-38543453-T-C | PLA2G6 | c.210-1793A>G | - | IntronicSNV | - | 2/15 |
18-34154176-A-T | FHOD3 | c.512-2238A>T | - | IntronicSNV | - | 5/24 |
10-5820394-T-A | GDI2 | c.720-4490A>T | - | IntronicSNV | - | 6/10 |
17-31756060-G-A | ASIC2 | c.556-316975C>T | - | IntronicSNV | - | 1/9 |
22-37090343-G-A | CACNG2 | c.211+8068C>T | - | IntronicSNV | - | 1/3 |
9-16480296-C-A | BNC2 | c.667-42774G>T | - | intron_variant | - | 4/5 |
11-62334096-A-G | EEF1G | c.857+182T>C | - | IntronicSNV | - | 7/9 |
8-121630172-G-A | SNTB1 | c.996+14512C>T | - | IntronicSNV | - | 3/6 |
1-201764737-A-T | NAV1 | c.3517+1032A>T | - | IntronicSNV | - | 15/29 |
1-27755669-A-G | WASF2 | c.1-269T>C | - | IntronicSNV | - | 1/8 |
11-113032906-C-G | NCAM1 | c.53-40195C>G | - | intron_variant | - | 2/19 |
11-113032906-C-A | NCAM1 | c.53-40195C>A | - | intron_variant | - | 2/19 |
15-100780260-T-C | ADAMTS17 | c.1075+14081A>G | - | IntronicSNV | - | 7/21 |
5-149512042-G-A | PDGFRB | c.1127+271C>T | - | IntronicSNV | - | 7/22 |
2-31242774-C-T | GALNT14 | c.130-26901G>A | - | IntronicSNV | - | 1/14 |
3-30049417-T-C | RBMS3 | c.*4064T>C | - | 3-UTRSNV | 14/14 | - |
5-158423745-G-A | EBF1 | c.554+76659C>T | - | IntronicSNV | - | 6/15 |
15-91813729-G-T | SV2B | c.1373+1894G>T | - | IntronicSNV | - | 10/13 |
6-97466656-A-G | KLHL32 | c.205-22712A>G | - | IntronicSNV | - | 3/10 |
6-51622449-T-C | PKHD1 | c.8643-2713A>G | - | IntronicSNV | - | 55/66 |
8-22486987-A-G | BIN3 | c.338+490T>C | - | IntronicSNV | - | 6/8 |
4-8034772-C-T | ABLIM2 | c.1047+3104G>A | - | IntronicSNV | - | 10/20 |
5-132677170-A-G | FSTL4 | c.410-24826T>C | - | IntronicSNV | - | 4/15 |
5-132677170-A-T | FSTL4 | c.410-24826T>A | - | IntronicSNV | - | 4/15 |
20-48474768-T-C | SLC9A8 | c.761+2650T>C | - | IntronicSNV | - | 8/15 |
15-81518209-G-A | IL16 | c.312+157G>A | - | IntronicSNV | - | 2/18 |
1-154438084-C-T | IL6R | c.*228C>T | - | 3-UTRSNV | 10/10 | - |
1-154438084-C-G | IL6R | c.*228C>G | - | 3-UTRSNV | 10/10 | - |
5-149446487-G-A | CSF1R | c.1626+1291C>T | - | IntronicSNV | - | 11/21 |
3-122848468-C-T | PDIA5 | c.774-859C>T | - | IntronicSNV | - | 10/16 |
1-112354653-G-A | KCND3 | c.1107-24925C>T | - | IntronicSNV | - | 2/6 |
1-154206212-C-T | UBAP2L | c.280-855C>T | - | IntronicSNV | - | 4/26 |
2-228561253-T-C | SLC19A3 | c.980-456A>G | - | IntronicSNV | - | 3/5 |
5-148019548-C-T | HTR4 | c.1-2971G>A | - | IntronicSNV | - | 1/6 |
18-61584982-C-T | SERPINB10 | c.235-217C>T | - | IntronicSNV | - | 3/7 |
7-71389353-C-T | CALN1 | c.501+99289G>A | - | IntronicSNV | - | 5/6 |
1-112048264-T-C | TMIGD3 | c.108-14880A>G | - | IntronicSNV | - | 1/5 |
8-56229879-G-C | XKR4 | c.807-40359G>C | - | IntronicSNV | - | 1/2 |
10-73095793-G-A | SLC29A3 | c.301-8173G>A | - | IntronicSNV | - | 2/5 |
21-16380025-G-A | NRIP1 | c.-335+6640C>T | - | intron_variant | - | 3/3 |
18-67186057-G-A | DOK6 | c.67-45666G>A | - | IntronicSNV | - | 1/7 |
4-8049713-A-G | ABLIM2 | c.823-2745T>C | - | IntronicSNV | - | 8/20 |
5-138753725-C-A | DNAJC18 | c.952+2017G>T | - | IntronicSNV | - | 7/7 |
10-22240299-C-A | DNAJC1 | c.223-22229G>T | - | IntronicSNV | - | 1/11 |
8-22506098-C-T | BIN3 | c.9-3782G>A | - | IntronicSNV | - | 1/8 |
10-76757407-C-A | KAT6B | c.2629+8537C>A | - | IntronicSNV | - | 13/17 |
1-155825855-A-G | GON4L | c.-27+1095T>C | - | intron_variant | - | 1/20 |
2-200236425-G-A | SATB2 | c.598-2995C>T | - | IntronicSNV | - | 6/11 |
13-80123984-A-C | NDFIP2 | c.848-1168A>C | - | IntronicSNV | - | 6/7 |
13-80123984-A-T | NDFIP2 | c.848-1168A>T | - | IntronicSNV | - | 6/7 |
19-17337223-G-A | OCEL1 | c.69+98G>A | - | IntronicSNV | - | 1/5 |
2-84996296-T-C | DNAH6 | c.10703+6227T>C | - | IntronicSNV | - | 64/76 |
3-173949806-C-T | NLGN1 | c.647-43299C>T | - | IntronicSNV | - | 4/6 |
6-35745655-C-T | CLPSL2 | c.207+297C>T | - | IntronicSNV | - | 2/2 |
5-149527844-T-C | PDGFRB | c.-7+7116A>G | - | intron_variant | - | 1/22 |
6-36784327-A-C | CPNE5 | c.183+5563T>G | - | IntronicSNV | - | 3/20 |
1-10375179-G-A | KIF1B | c.1978-4922G>A | - | IntronicSNV | - | 20/46 |
20-36374135-A-G | CTNNBL1 | c.327-735A>G | - | IntronicSNV | - | 3/15 |
8-22601787-A-G | PEBP4 | c.358-17054T>C | - | IntronicSNV | - | 4/6 |
1-112486533-C-A | KCND3 | c.1106+37710G>T | - | IntronicSNV | - | 2/6 |
8-23432332-C-T | SLC25A37 | c.*2964C>T | - | IntergenicSNV | 4/4 | - |
7-91910492-A-G | ANKIB1 | c.1-13801A>G | - | IntronicSNV | - | 1/19 |
4-21922674-A-T | KCNIP4 | c.61+27520T>A | - | IntronicSNV | - | 1/8 |
9-119234058-C-T | ASTN2 | c.3344+15580G>A | - | IntronicSNV | - | 19/21 |
2-45981142-A-G | PRKCE | c.349-88997A>G | - | IntronicSNV | - | 1/14 |
3-122834810-A-G | PDIA5 | c.542-268A>G | - | IntronicSNV | - | 7/16 |
1-243608642-A-G | SDCCAG8 | c.1985+18782A>G | - | IntronicSNV | - | 16/17 |
6-31916400-A-G | CFB | c.1036+111A>G | - | IntronicSNV | - | 7/17 |
22-33192544-C-T | SYN3 | c.708+68358G>A | - | IntronicSNV | - | 6/13 |
19-17355549-G-A | NR2F6 | c.278+203C>T | - | IntronicSNV | - | 1/3 |
12-10126427-A-G | CLEC12A | c.91+2141A>G | - | IntronicSNV | - | 1/5 |
4-21922674-A-C | KCNIP4 | c.61+27520T>G | - | IntronicSNV | - | 1/8 |
2-46082995-C-T | PRKCE | c.412+12793C>T | - | IntronicSNV | - | 2/14 |
6-102501774-T-C | GRIK2 | c.2312-1431T>C | - | IntronicSNV | - | 14/16 |
18-43616784-T-C | PSTPIP2 | c.134+3129A>G | - | IntronicSNV | - | 2/14 |
11-7471878-T-C | SYT9 | c.1468-16145T>C | - | IntronicSNV | - | 6/6 |
5-132810908-G-A | FSTL4 | c.161-74230C>T | - | IntronicSNV | - | 3/15 |
1-237413292-G-T | RYR2 | c.49-20505G>T | - | IntronicSNV | - | 1/104 |
10-50122109-C-G | LRRC18 | c.92G>C | p.Arg31Pro | Missense | 1/2 | - |
9-107604104-A-G | ABCA1 | c.814-1304T>C | - | IntronicSNV | - | 8/49 |
22-38534045-T-C | PLA2G6 | c.797+1944A>G | - | IntronicSNV | - | 5/15 |
9-107600251-T-C | ABCA1 | c.1055-403A>G | - | IntronicSNV | - | 9/49 |
10-5852172-T-C | GDI2 | c.45+3005A>G | - | IntronicSNV | - | 1/10 |
2-29727557-T-G | ALK | c.1154+27224A>C | - | IntronicSNV | - | 4/28 |
2-103011237-T-C | IL18R1 | c.1270+150T>C | - | IntronicSNV | - | 10/10 |
1-154704595-A-G | KCNN3 | c.1590+884T>C | - | IntronicSNV | - | 4/7 |
18-44026234-T-C | RNF165 | c.486-1292T>C | - | IntronicSNV | - | 3/7 |
9-28659143-A-G | LINGO2 | c.-365+11055T>C | - | intron_variant | - | 2/6 |
16-80632290-T-C | CDYL2 | c.*5995A>G | - | IntergenicSNV | 7/7 | - |
11-36178902-C-A | LDLRAD3 | c.454+58891C>A | - | IntronicSNV | - | 4/5 |
15-61045030-T-C | RORA | c.167-74145A>G | - | IntronicSNV | - | 1/10 |
9-4493526-T-G | SLC1A1 | c.91+2756T>G | - | IntronicSNV | - | 1/11 |
7-13955108-C-T | ETV1 | c.803-4176G>A | - | IntronicSNV | - | 9/13 |
12-2546519-T-C | CACNA1C | c.478-11623T>C | - | IntronicSNV | - | 3/46 |
7-94034848-A-G | COL1A2 | c.487-137A>G | - | IntronicSNV | - | 10/51 |
4-6973291-A-T | TBC1D14 | c.843+4140A>T | - | IntronicSNV | - | 3/13 |
4-6973291-A-G | TBC1D14 | c.843+4140A>G | - | IntronicSNV | - | 3/13 |
7-91998495-C-A | ANKIB1 | c.1487-2296C>A | - | IntronicSNV | - | 10/19 |
13-39294798-T-C | FREM2 | c.5263+22874T>C | - | IntronicSNV | - | 2/23 |
2-116014077-G-A | DPP10 | c.61-52738G>A | - | IntronicSNV | - | 1/25 |
8-23118503-C-T | CHMP7 | c.*391C>T | - | 3-UTRSNV | 11/11 | - |
10-102536664-G-A | PAX2 | c.411-2591G>A | - | IntronicSNV | - | 3/9 |
2-50364447-C-A | NRXN1 | c.3667-45815G>T | - | IntronicSNV | - | 19/23 |
1-112078158-A-G | TMIGD3 | c.107+28310T>C | - | IntronicSNV | - | 1/5 |
6-25535929-G-A | CARMIL1 | c.2068-2154G>A | - | IntronicSNV | - | 24/36 |
15-48547976-T-C | SLC12A1 | c.1943-32T>C | - | IntronicSNV | - | 15/26 |
15-48547976-T-G | SLC12A1 | c.1943-32T>G | - | IntronicSNV | - | 15/26 |
22-31732461-A-G | PATZ1 | c.1336-612T>C | - | IntronicSNV | - | 2/4 |
15-91492877-C-T | UNC45A | c.2007-7C>T | - | IntronicSNV | - | 14/19 |
12-96124847-A-C | NTN4 | c.864+6797T>G | - | IntronicSNV | - | 3/9 |
16-81571725-C-G | CMIP | c.18+42626C>G | - | IntronicSNV | - | 1/20 |
7-83794756-T-G | SEMA3A | c.112+29035A>C | - | IntronicSNV | - | 1/16 |
16-81571725-C-A | CMIP | c.18+42626C>A | - | IntronicSNV | - | 1/20 |
16-81571725-C-T | CMIP | c.18+42626C>T | - | IntronicSNV | - | 1/20 |
1-154706620-T-A | KCNN3 | c.1449-1000A>T | - | IntronicSNV | - | 3/7 |
6-36737499-G-A | CPNE5 | c.738-4346C>T | - | IntronicSNV | - | 10/20 |
2-231357373-T-C | SP100 | c.1601-1758T>C | - | IntronicSNV | - | 17/24 |
11-63859751-A-G | MACROD1 | c.517+58960T>C | - | IntronicSNV | - | 3/10 |
2-84839270-C-A | DNAH6 | c.3475+292C>A | - | IntronicSNV | - | 22/76 |
1-66784679-T-C | PDE4B | c.635-13512T>C | - | IntronicSNV | - | 7/16 |
9-73305723-T-C | TRPM3 | c.814-9229A>G | - | IntronicSNV | - | 8/24 |
16-81588142-G-T | CMIP | c.19-53030G>T | - | IntronicSNV | - | 1/20 |
7-127607474-A-G | SND1 | c.1670-23526A>G | - | IntronicSNV | - | 15/23 |
7-127607474-A-T | SND1 | c.1670-23526A>T | - | IntronicSNV | - | 15/23 |
17-38025417-G-A | ZPBP2 | c.52+758G>A | - | IntronicSNV | - | 1/6 |
8-40426103-G-C | ZMAT4 | c.674+12581C>G | - | IntronicSNV | - | 6/6 |
8-40426103-G-A | ZMAT4 | c.674+12581C>T | - | IntronicSNV | - | 6/6 |
3-2586694-T-C | CNTN4 | c.1-26494T>C | - | IntronicSNV | - | 1/23 |
19-17906839-C-T | B3GNT3 | c.-51+824C>T | - | intron_variant | - | 1/2 |
15-67061435-C-A | SMAD6 | c.953-11900C>A | - | IntronicSNV | - | 3/3 |
6-151158446-G-C | PLEKHG1 | c.3095-2523G>C | - | IntronicSNV | - | 16/16 |
6-151158446-G-A | PLEKHG1 | c.3095-2523G>A | - | IntronicSNV | - | 16/16 |
8-22608029-A-G | PEBP4 | c.358-23296T>C | - | IntronicSNV | - | 4/6 |
7-106740938-G-A | PRKAR2B | c.344-21459G>A | - | IntronicSNV | - | 2/10 |
3-159505603-G-T | IQCJ-SCHIP1 | c.987+22676G>T | - | IntronicSNV | - | 5/10 |
1-39352271-G-T | RHBDL2 | c.817C>A | p.Leu273Met | Missense | 8/8 | - |
3-10457572-A-G | ATP2B2 | c.200-5073T>C | - | IntronicSNV | - | 2/19 |
15-49038470-C-T | CEP152 | c.3467-1281G>A | - | IntronicSNV | - | 21/25 |
6-76473071-T-C | MYO6 | c.-48+13931T>C | - | intron_variant | - | 1/34 |
3-3108711-C-T | IL5RA | c.*3198G>A | - | 3-UTRSNV | 13/13 | - |
8-32223206-C-T | NRG1 | c.38-230140C>T | - | IntronicSNV | - | 1/11 |
5-132811978-T-C | FSTL4 | c.161-75300A>G | - | IntronicSNV | - | 3/15 |
1-112035725-T-C | TMIGD3 | c.108-2341A>G | - | IntronicSNV | - | 1/5 |
5-132728388-T-C | FSTL4 | c.409+8042A>G | - | IntronicSNV | - | 4/15 |
12-105271085-G-T | SLC41A2 | c.1027+8986C>A | - | IntronicSNV | - | 7/11 |
12-105271085-G-A | SLC41A2 | c.1027+8986C>T | - | IntronicSNV | - | 7/11 |
10-56286556-C-T | PCDH15 | c.157+1016G>A | - | IntronicSNV | - | 3/32 |
6-48008899-G-T | PTCHD4 | c.426+27067C>A | - | IntronicSNV | - | 1/2 |
1-115222434-G-A | AMPD1 | c.867-105C>T | - | IntronicSNV | - | 6/15 |
15-61394450-C-T | RORA | c.166+126802G>A | - | IntronicSNV | - | 1/10 |
1-154706620-T-C | KCNN3 | c.1449-1000A>G | - | IntronicSNV | - | 3/7 |
4-104600572-A-G | TACR3 | c.549-21012T>C | - | IntronicSNV | - | 1/4 |
6-38983698-G-A | DNAH8 | c.13714+3285G>A | - | IntronicSNV | - | 91/92 |
6-38983698-G-T | DNAH8 | c.13714+3285G>T | - | IntronicSNV | - | 91/92 |
11-36147644-G-A | LDLRAD3 | c.454+27633G>A | - | IntronicSNV | - | 4/5 |
12-26355515-A-G | SSPN | c.279+6631A>G | - | IntronicSNV | - | 1/2 |
16-82822013-G-T | CDH13 | c.46-69954G>T | - | IntronicSNV | - | 1/13 |
19-17666919-C-T | COLGALT1 | c.260+137C>T | - | IntronicSNV | - | 1/11 |
8-22501830-C-T | BIN3 | c.57+438G>A | - | IntronicSNV | - | 2/8 |
8-22501830-C-A | BIN3 | c.57+438G>T | - | IntronicSNV | - | 2/8 |
1-6846763-G-T | CAMTA1 | c.45+1128G>T | - | IntronicSNV | - | 1/22 |
6-33768897-A-G | MLN | c.44T>C | p.Val15Ala | Missense | 2/5 | - |
16-55722850-A-G | SLC6A2 | c.784-2980A>G | - | IntronicSNV | - | 4/13 |
18-44106331-G-T | LOXHD1 | c.4531-1451C>A | - | IntronicSNV | - | 29/39 |
7-128048194-T-C | IMPDH1 | c.254+1149A>G | - | IntronicSNV | - | 3/16 |
22-43333156-G-A | PACSIN2 | c.-78+9747C>T | - | intron_variant | - | 1/10 |
1-2425992-C-T | PLCH2 | c.1660-303C>T | - | IntronicSNV | - | 11/21 |
15-61277728-T-C | RORA | c.166+243524A>G | - | IntronicSNV | - | 1/10 |
15-61376143-G-T | RORA | c.166+145109C>A | - | IntronicSNV | - | 1/10 |
3-178502618-T-C | KCNMB2 | c.1-22580T>C | - | IntronicSNV | - | 1/4 |
10-73295727-C-T | CDH23 | c.429+24758C>T | - | IntronicSNV | - | 6/13 |
4-7597712-G-T | SORCS2 | c.649-42343G>T | - | IntronicSNV | - | 3/26 |
2-228069010-A-G | COL4A3 | c.88-33674A>G | - | IntronicSNV | - | 1/51 |
4-7615377-A-G | SORCS2 | c.649-24678A>G | - | IntronicSNV | - | 3/26 |
4-7615377-A-T | SORCS2 | c.649-24678A>T | - | IntronicSNV | - | 3/26 |
9-4576680-T-C | SLC1A1 | c.1110T>C | p.Thr370Thr | Synonymous | 10/12 | - |
2-23616057-T-C | KLHL29 | c.-154+7406T>C | - | intron_variant | - | 1/13 |
18-43640714-A-G | PSTPIP2 | c.33+11408T>C | - | IntronicSNV | - | 1/14 |
18-43640714-A-C | PSTPIP2 | c.33+11408T>G | - | IntronicSNV | - | 1/14 |
8-22587587-C-T | PEBP4 | c.358-2854G>A | - | IntronicSNV | - | 4/6 |
17-90429-T-C | RPH3AL | c.613+6473A>G | - | IntronicSNV | - | 7/9 |
8-22239868-A-G | SLC39A14 | c.-16+14947A>G | - | intron_variant | - | 1/8 |
2-200235352-G-A | SATB2 | c.598-1922C>T | - | IntronicSNV | - | 6/11 |
1-210884699-T-G | KCNH1 | c.2032-27219A>C | - | IntronicSNV | - | 10/10 |
11-113032906-C-T | NCAM1 | c.53-40195C>T | - | intron_variant | - | 2/19 |
7-138463724-T-G | ATP6V0A4 | c.-18+7179A>C | - | intron_variant | - | 2/21 |
13-21039517-A-C | CRYL1 | c.276+23992T>G | - | IntronicSNV | - | 3/7 |
8-69516994-A-G | C8orf34 | c.1106-35617A>G | - | IntronicSNV | - | 7/13 |
12-113724945-A-G | TPCN1 | c.1634+46A>G | - | IntronicSNV | - | 19/27 |
6-121766286-G-A | GJA1 | c.1-1708G>A | - | IntronicSNV | - | 1/1 |
11-70138710-T-A | PPFIA1 | c.264+20168T>A | - | IntronicSNV | - | 2/27 |
2-200313323-T-C | SATB2 | c.169+7269A>G | - | IntronicSNV | - | 3/11 |
2-200313323-T-A | SATB2 | c.169+7269A>T | - | IntronicSNV | - | 3/11 |
17-4052566-G-T | CYB5D2 | c.251-619G>T | - | IntronicSNV | - | 1/3 |
11-70138710-T-C | PPFIA1 | c.264+20168T>C | - | IntronicSNV | - | 2/27 |
13-109409338-G-A | MYO16 | c.442-28645G>A | - | IntronicSNV | - | 4/34 |
1-217967094-T-C | SPATA17 | c.873-7966T>C | - | IntronicSNV | - | 8/10 |
1-155033572-A-C | ADAM15 | c.2277+264A>C | - | IntronicSNV | - | 19/20 |
1-158624779-T-C | SPTA1 | c.2899-241A>G | - | IntronicSNV | - | 20/51 |
1-155033572-A-G | ADAM15 | c.2277+264A>G | - | IntronicSNV | - | 19/20 |
6-13444738-A-G | GFOD1 | c.253+42132T>C | - | IntronicSNV | - | 1/1 |
8-72192110-C-T | EYA1 | c.827-7978G>A | - | IntronicSNV | - | 9/17 |
6-33055605-G-A | HLA-DPB1 | c.*1294G>A | - | 3_prime_UTR_variant | 6/6 | - |
9-73282815-A-G | TRPM3 | c.886+13607T>C | - | IntronicSNV | - | 9/24 |
11-36475317-T-C | PRR5L | c.712+2432T>C | - | IntronicSNV | - | 9/9 |
16-16054650-G-A | ABCC1 | c.48+10994G>A | - | IntronicSNV | - | 1/30 |
5-149505624-T-C | PDGFRB | c.1674+459A>G | - | IntronicSNV | - | 11/22 |
2-33320957-G-T | LTBP1 | c.864-14692G>T | - | IntronicSNV | - | 3/33 |
10-6488790-C-T | PRKCQ | c.1648-4747G>A | - | IntronicSNV | - | 15/17 |
6-36258667-T-A | PNPLA1 | c.1-510T>A | - | IntronicSNV | - | 1/7 |
6-36258667-T-G | PNPLA1 | c.1-510T>G | - | IntronicSNV | - | 1/7 |
15-49221881-G-A | SHC4 | c.586-4735C>T | - | IntronicSNV | - | 1/11 |
6-33053352-C-T | HLA-DPB1 | c.647-204C>T | - | IntronicSNV | - | 3/5 |
11-11554562-T-C | GALNT18 | c.236-84079A>G | - | IntronicSNV | - | 1/10 |
16-53671754-C-T | RPGRIP1L | c.3073G>A | p.Gly1025Ser | Missense | 21/27 | - |
4-7620195-C-T | SORCS2 | c.649-19860C>T | - | IntronicSNV | - | 3/26 |
4-8303557-G-A | HTRA3 | c.1052-633G>A | - | IntronicSNV | - | 6/8 |
22-31654823-C-T | LIMK2 | c.190-284C>T | - | IntronicSNV | - | 2/14 |
1-246089811-G-C | SMYD3 | c.525+1422C>G | - | IntronicSNV | - | 7/11 |
1-246089811-G-A | SMYD3 | c.525+1422C>T | - | IntronicSNV | - | 7/11 |
3-30720304-G-A | TGFBR2 | c.1471+4566G>A | - | IntronicSNV | - | 6/7 |
10-6596242-G-A | PRKCQ | c.-10+25931C>T | - | intron_variant | - | 1/17 |
19-17222753-C-T | MYO9B | c.840+9386C>T | - | IntronicSNV | - | 2/39 |
16-55724764-A-G | SLC6A2 | c.784-1066A>G | - | IntronicSNV | - | 4/13 |
11-43726211-G-A | HSD17B12 | c.160+23674G>A | - | IntronicSNV | - | 1/10 |
7-23736510-C-T | FAM221A | c.638-1301C>T | - | IntronicSNV | - | 4/6 |
1-112451681-A-T | KCND3 | c.1106+72562T>A | - | IntronicSNV | - | 2/6 |
1-112451681-A-C | KCND3 | c.1106+72562T>G | - | IntronicSNV | - | 2/6 |
7-23736510-C-A | FAM221A | c.638-1301C>A | - | IntronicSNV | - | 4/6 |
10-102533955-G-A | PAX2 | c.411-5300G>A | - | IntronicSNV | - | 3/9 |
14-24033027-G-T | AP1G2 | c.1130C>A | p.Ser377Tyr | Missense | 12/22 | - |
7-136584363-T-C | CHRM2 | c.-125+30198T>C | - | intron_variant | - | 2/3 |
2-102952360-G-A | IL1RL1 | c.1-2365G>A | - | IntronicSNV | - | 1/10 |
22-31729177-T-A | PATZ1 | c.1507+2501A>T | - | IntronicSNV | - | 3/4 |
22-31729177-T-C | PATZ1 | c.1507+2501A>G | - | IntronicSNV | - | 3/4 |
19-17339947-C-T | OCEL1 | c.*213C>T | - | 3-UTRSNV | 6/6 | - |
5-131819921-C-A | IRF1 | c.853+133G>T | - | IntronicSNV | - | 9/9 |
5-131819921-C-T | IRF1 | c.853+133G>A | - | IntronicSNV | - | 9/9 |
7-43768179-C-T | COA1 | c.-39+849G>A | - | intron_variant | - | 1/5 |
11-134012013-G-A | JAM3 | c.256+1348G>A | - | IntronicSNV | - | 3/8 |
7-43768179-C-G | COA1 | c.-39+849G>C | - | intron_variant | - | 1/5 |
6-51809617-T-G | PKHD1 | c.5909-10497A>C | - | IntronicSNV | - | 36/66 |
15-61069988-C-T | RORA | c.167-99103G>A | - | IntronicSNV | - | 1/10 |
15-60666228-C-G | ANXA2 | c.148+8313G>C | - | IntronicSNV | - | 4/13 |
15-60666228-C-T | ANXA2 | c.148+8313G>A | - | IntronicSNV | - | 4/13 |
18-21340072-T-C | LAMA3 | c.1063+1597T>C | - | IntronicSNV | - | 7/74 |
16-12234877-C-T | SNX29 | c.1595+11262C>T | - | IntronicSNV | - | 13/20 |
19-17396549-T-C | ANKLE1 | c.1596T>C | - | synonymous_variant | 8/9 | - |
19-17396549-T-A | ANKLE1 | c.1596T>A | - | synonymous_variant | 8/9 | - |
16-10645717-T-C | EMP2 | c.1-4243A>G | - | IntronicSNV | - | 1/4 |
2-46158523-C-A | PRKCE | c.413-45045C>A | - | IntronicSNV | - | 2/14 |
2-46158523-C-T | PRKCE | c.413-45045C>T | - | IntronicSNV | - | 2/14 |
5-148539100-C-T | ABLIM3 | c.13+17429C>T | - | IntronicSNV | - | 2/23 |
8-13968625-A-C | SGCZ | c.548-2881T>G | - | IntronicSNV | - | 5/7 |
19-17314874-T-C | MYO9B | c.4990+807T>C | - | IntronicSNV | - | 30/39 |
1-217992744-G-A | SPATA17 | c.1005+17552G>A | - | IntronicSNV | - | 9/10 |
10-61012087-G-A | FAM13C | c.1236+472C>T | - | intron_variant | - | 10/11 |
4-7029939-G-A | TBC1D14 | c.2017-2115G>A | - | IntronicSNV | - | 13/13 |
5-149509111-C-T | PDGFRB | c.1579+209G>A | - | IntronicSNV | - | 10/22 |
6-28302784-A-G | ZSCAN31 | c.-96+1075T>C | - | intron_variant | - | 1/3 |
4-7025909-T-G | TBC1D14 | c.1758-822T>G | - | IntronicSNV | - | 12/13 |
4-7025909-T-C | TBC1D14 | c.1758-822T>C | - | IntronicSNV | - | 12/13 |
6-36805885-A-T | CPNE5 | c.95+1174T>A | - | IntronicSNV | - | 1/20 |
6-36805885-A-C | CPNE5 | c.95+1174T>G | - | IntronicSNV | - | 1/20 |
5-158404129-A-G | EBF1 | c.554+96275T>C | - | IntronicSNV | - | 6/15 |
2-99000814-G-A | CNGA3 | c.449+910G>A | - | IntronicSNV | - | 5/7 |
7-116943135-C-T | WNT2 | c.589-5205G>A | - | IntronicSNV | - | 3/4 |
5-179432096-G-A | RNF130 | c.693+7965C>T | - | IntronicSNV | - | 3/8 |
10-5685301-C-T | ASB13 | c.518-1377G>A | - | IntronicSNV | - | 4/5 |
1-115052708-C-A | TRIM33 | c.526+464G>T | - | IntronicSNV | - | 1/19 |
18-44101735-A-G | LOXHD1 | c.5085+329T>C | - | IntronicSNV | - | 32/39 |
18-44101735-A-T | LOXHD1 | c.5085+329T>A | - | IntronicSNV | - | 32/39 |
19-13416350-T-A | CACNA1A | c.1990-1652A>T | - | IntronicSNV | - | 15/47 |
19-13416350-T-G | CACNA1A | c.1990-1652A>C | - | IntronicSNV | - | 15/47 |
3-21771769-A-T | ZNF385D | c.22+20618T>A | - | IntronicSNV | - | 1/7 |
3-23921062-C-T | UBE2E1 | c.204-7996C>T | - | IntronicSNV | - | 3/5 |
18-47447432-C-T | MYO5B | c.2090+8450G>A | - | IntronicSNV | - | 17/39 |
11-100723516-A-G | ARHGAP42 | c.313-6769A>G | - | IntronicSNV | - | 3/23 |
8-56054696-C-T | XKR4 | c.806+38842C>T | - | IntronicSNV | - | 1/2 |
3-159466206-A-C | IQCJ-SCHIP1 | c.292-16026A>C | - | IntronicSNV | - | 4/10 |
1-198209239-T-C | NEK7 | c.57+7472T>C | - | IntronicSNV | - | 2/9 |
11-99964867-A-T | CNTN5 | c.1580+19841A>T | - | IntronicSNV | - | 13/24 |
2-228552709-C-T | SLC19A3 | c.1314+173G>A | - | IntronicSNV | - | 5/5 |
11-100052221-C-A | CNTN5 | c.1581-9637C>A | - | IntronicSNV | - | 13/24 |
11-100052221-C-T | CNTN5 | c.1581-9637C>T | - | IntronicSNV | - | 13/24 |
4-8063501-C-T | ABLIM2 | c.676-720G>A | - | IntronicSNV | - | 6/20 |
14-90429749-A-G | TDP1 | c.291A>G | p.Gln97Gln | Synonymous | 3/17 | - |
7-122472472-G-A | CADPS2 | c.339+53581C>T | - | IntronicSNV | - | 1/29 |
2-103049074-A-G | IL18RAP | c.580-4598A>G | - | IntronicSNV | - | 5/11 |
22-39710244-G-A | RPL3 | c.850-31C>T | - | IntronicSNV | - | 6/9 |
15-100771660-A-C | ADAMTS17 | c.1075+22681T>G | - | IntronicSNV | - | 7/21 |
4-7429781-T-C | SORCS2 | c.548+31699T>C | - | IntronicSNV | - | 2/26 |
10-72316867-G-A | PALD1 | c.2263-7253G>A | - | IntronicSNV | - | 18/19 |
11-35536881-C-T | PAMR1 | c.73+10180G>A | - | IntronicSNV | - | 1/11 |
1-217780472-A-G | GPATCH2 | c.1098+3191T>C | - | IntronicSNV | - | 5/9 |
1-113028105-G-A | WNT2B | c.55-5528G>A | - | IntronicSNV | - | 1/5 |
16-82187311-G-T | MPHOSPH6 | c.165-2192C>A | - | IntronicSNV | - | 2/4 |
10-5816751-C-A | GDI2 | c.720-847G>T | - | IntronicSNV | - | 6/10 |
19-11227554-C-T | LDLR | c.1725C>T | p.Leu575Leu | Synonymous | 12/18 | - |
10-5816751-C-T | GDI2 | c.720-847G>A | - | IntronicSNV | - | 6/10 |
12-105328199-T-C | SLC41A2 | c.-327-2630A>G | - | intron_variant | - | 1/11 |
10-76705881-G-A | KAT6B | c.622-13847G>A | - | IntronicSNV | - | 3/17 |
10-71850609-G-A | H2AFY2 | c.279+687G>A | - | IntronicSNV | - | 3/8 |
17-31825116-A-G | ASIC2 | c.556-386031T>C | - | IntronicSNV | - | 1/9 |
20-36154462-C-A | BLCAP | c.-177+1733G>T | - | intron_variant | - | 1/1 |
7-16618982-T-C | LRRC72 | c.671-717T>C | - | IntronicSNV | - | 7/8 |
22-38022622-A-C | GGA1 | c.1093+666A>C | - | IntronicSNV | - | 11/16 |
3-55575785-G-A | ERC2 | c.*40-30481C>T | - | intron_variant | - | 17/17 |
3-158994949-A-C | IQCJ-SCHIP1 | c.291+14477A>C | - | IntronicSNV | - | 4/10 |
15-83361080-C-G | AP3B2 | c.114-2875G>C | - | IntronicSNV | - | 1/24 |
1-206629674-A-G | SRGAP2 | c.2250+1304A>G | - | intron_variant | - | 18/19 |
15-83361080-C-A | AP3B2 | c.114-2875G>T | - | IntronicSNV | - | 1/24 |
18-60793655-T-C | BCL2 | c.*2203A>G | - | 3-UTRSNV | 3/3 | - |
1-12650076-T-C | DHRS3 | c.197-9382A>G | - | intron_variant | - | 1/5 |
16-82927500-T-C | CDH13 | c.157+35422T>C | - | IntronicSNV | - | 2/13 |
18-60793655-T-G | BCL2 | c.*2203A>C | - | 3-UTRSNV | 3/3 | - |
9-73306537-C-T | TRPM3 | c.814-10043G>A | - | IntronicSNV | - | 8/24 |
9-73306537-C-A | TRPM3 | c.814-10043G>T | - | IntronicSNV | - | 8/24 |
4-7381431-G-A | SORCS2 | c.481-16584G>A | - | IntronicSNV | - | 1/26 |
16-55718818-G-C | SLC6A2 | c.645-237G>C | - | IntronicSNV | - | 3/13 |
6-33647651-A-T | ITPR3 | c.3973-8A>T | - | IntronicSNV | - | 30/57 |
11-24527958-A-G | LUZP2 | c.62+9107A>G | - | IntronicSNV | - | 1/11 |
2-212906355-G-A | ERBB4 | c.234+83122C>T | - | IntronicSNV | - | 2/26 |
1-64706743-T-C | UBE2U | c.596-592T>C | - | IntronicSNV | - | 7/8 |
6-152492517-G-A | SYNE1 | c.23627+5012C>T | - | IntronicSNV | - | 130/145 |
16-55718818-G-A | SLC6A2 | c.645-237G>A | - | IntronicSNV | - | 3/13 |
16-27822512-T-C | GSG1L | c.366-3637A>G | - | IntronicSNV | - | 4/5 |
12-27770791-T-C | PPFIBP1 | c.1-15539T>C | - | IntronicSNV | - | 1/29 |
4-7442086-G-A | SORCS2 | c.548+44004G>A | - | IntronicSNV | - | 2/26 |
5-149648780-C-T | CAMK2A | c.157+3848G>A | - | IntronicSNV | - | 2/18 |
7-7618720-A-T | MIOS | c.1394-4029A>T | - | IntronicSNV | - | 5/12 |
2-200201605-A-G | SATB2 | c.1174-7972T>C | - | IntronicSNV | - | 8/11 |
19-10965270-C-T | C19orf38 | c.341-1671C>T | - | IntronicSNV | - | 2/6 |
15-32965630-A-G | SCG5 | c.227-6337A>G | - | IntronicSNV | - | 2/5 |
17-46381391-C-A | SKAP1 | c.280+41876G>T | - | IntronicSNV | - | 4/12 |
6-36759741-G-A | CPNE5 | c.528+69C>T | - | IntronicSNV | - | 8/20 |
6-36894677-T-C | C6orf89 | c.*3460T>C | - | 3-UTRSNV | 8/8 | - |
6-36894677-T-A | C6orf89 | c.*3460T>A | - | 3-UTRSNV | 8/8 | - |
19-17226229-G-A | MYO9B | c.840+12862G>A | - | IntronicSNV | - | 2/39 |
19-17226229-G-C | MYO9B | c.840+12862G>C | - | IntronicSNV | - | 2/39 |
5-149648780-C-G | CAMK2A | c.157+3848G>C | - | IntronicSNV | - | 2/18 |
5-149648780-C-A | CAMK2A | c.157+3848G>T | - | IntronicSNV | - | 2/18 |
10-71837875-C-T | H2AFY2 | c.172+2289C>T | - | IntronicSNV | - | 2/8 |
3-17049965-T-C | PLCL2 | c.328-1201T>C | - | intron_variant | - | 4/8 |
2-238912120-A-C | UBE2F | c.214+8669A>C | - | IntronicSNV | - | 4/9 |
13-111064526-T-C | COL4A2 | c.181-12555T>C | - | IntronicSNV | - | 4/47 |
2-65489742-G-A | ACTR2 | c.896+1216G>A | - | IntronicSNV | - | 8/9 |
11-120148845-A-G | POU2F3 | c.138+8892A>G | - | IntronicSNV | - | 3/12 |
17-9466072-C-G | STX8 | c.118-5227G>C | - | IntronicSNV | - | 2/7 |
17-9466072-C-A | STX8 | c.118-5227G>T | - | IntronicSNV | - | 2/7 |
17-9466072-C-T | STX8 | c.118-5227G>A | - | IntronicSNV | - | 2/7 |
1-154710904-C-T | KCNN3 | c.1449-5284G>A | - | IntronicSNV | - | 3/7 |
15-62284101-A-T | VPS13C | c.1225-100T>A | - | IntronicSNV | - | 14/82 |
15-62284101-A-G | VPS13C | c.1225-100T>C | - | IntronicSNV | - | 14/82 |
2-143988118-A-G | ARHGAP15 | c.384+1881A>G | - | IntronicSNV | - | 5/13 |
9-107602678-G-A | ABCA1 | c.936C>T | p.Pro312Pro | Synonymous | 9/50 | - |
18-46461786-T-A | SMAD7 | c.742+7065A>T | - | IntronicSNV | - | 3/3 |
18-46461786-T-C | SMAD7 | c.742+7065A>G | - | IntronicSNV | - | 3/3 |
6-46854403-G-A | ADGRF5 | c.328+1669C>T | - | IntronicSNV | - | 4/20 |
2-47772950-T-A | KCNK12 | c.392-24003A>T | - | IntronicSNV | - | 1/1 |
6-35958871-C-T | SLC26A8 | c.942+565G>A | - | IntronicSNV | - | 7/19 |
2-239000182-C-T | SCLY | c.921+287C>T | - | intron_variant | - | 8/11 |
1-154811127-G-A | KCNN3 | c.934-16467C>T | - | IntronicSNV | - | 1/7 |
1-154811127-G-T | KCNN3 | c.934-16467C>A | - | IntronicSNV | - | 1/7 |
2-102987213-A-G | IL18R1 | c.303-1200A>G | - | IntronicSNV | - | 3/10 |
19-11276744-G-T | KANK2 | c.*490C>A | - | 3-UTRSNV | 11/11 | - |
6-37415076-G-A | CMTR1 | c.444+851G>A | - | IntronicSNV | - | 4/23 |
17-4718027-G-A | PLD2 | c.1173+21G>A | - | IntronicSNV | - | 12/24 |
6-35958871-C-A | SLC26A8 | c.942+565G>T | - | IntronicSNV | - | 7/19 |
15-91754236-T-C | SV2B | c.1-15258T>C | - | IntronicSNV | - | 2/13 |
1-217916012-A-C | SPATA17 | c.519+572A>C | - | IntronicSNV | - | 6/10 |
19-11276744-G-A | KANK2 | c.*490C>T | - | 3-UTRSNV | 11/11 | - |
2-46098608-T-C | PRKCE | c.412+28406T>C | - | IntronicSNV | - | 2/14 |
17-4718027-G-T | PLD2 | c.1173+21G>T | - | IntronicSNV | - | 12/24 |
1-201337768-C-T | TNNT2 | c.98-413G>A | - | IntronicSNV | - | 5/15 |
8-123971081-C-T | ZHX2 | c.*4817C>T | - | IntronicSNV | - | 3/3 |
2-134187813-C-T | NCKAP5 | c.69+87216G>A | - | IntronicSNV | - | 3/17 |
14-34224134-A-G | NPAS3 | c.853-19409A>G | - | IntronicSNV | - | 7/11 |
9-86950870-C-T | SLC28A3 | c.60+4619G>A | - | IntronicSNV | - | 2/18 |
2-102774054-G-A | IL1R1 | c.1-131G>A | - | IntronicSNV | - | 2/11 |
17-44788310-G-A | NSF | c.1471-19G>A | - | IntronicSNV | - | 13/20 |
17-72322881-G-A | KIF19 | c.39+354G>A | - | IntronicSNV | - | 1/19 |
17-9474296-G-A | STX8 | c.18-2509C>T | - | IntronicSNV | - | 1/7 |
15-33740861-G-T | RYR3 | c.52-24759G>T | - | IntronicSNV | - | 1/103 |
16-81989484-G-A | PLCG2 | c.3571-816G>A | - | IntronicSNV | - | 31/32 |
2-102959260-T-C | IL1RL1 | c.683-236T>C | - | IntronicSNV | - | 6/10 |
16-81989484-G-C | PLCG2 | c.3571-816G>C | - | IntronicSNV | - | 31/32 |
20-15608581-G-A | MACROD2 | c.645+128089G>A | - | IntronicSNV | - | 8/16 |
10-14160000-C-T | FRMD4A | c.45+212057G>A | - | IntronicSNV | - | 2/24 |
20-6056356-G-A | FERMT1 | c.*1464C>T | - | 3-UTRSNV | 15/15 | - |
1-114681932-T-A | SYT6 | c.257+305A>T | - | IntronicSNV | - | 2/7 |
7-106740938-G-T | PRKAR2B | c.344-21459G>T | - | IntronicSNV | - | 2/10 |
15-61177888-C-T | RORA | c.167-207003G>A | - | IntronicSNV | - | 1/10 |
9-4143674-T-G | GLIS3 | c.-78+8393A>C | - | intron_variant | - | 1/9 |
5-148549111-G-A | ABLIM3 | c.14-13904G>A | - | IntronicSNV | - | 2/23 |
9-4143674-T-A | GLIS3 | c.-78+8393A>T | - | intron_variant | - | 1/9 |
16-10527613-C-A | ATF7IP2 | c.960+107C>A | - | IntronicSNV | - | 4/11 |
17-44859144-C-T | WNT3 | c.81-7869G>A | - | IntronicSNV | - | 1/4 |
6-36230135-G-A | PNPLA1 | c.-81+19097G>A | - | intron_variant | - | 1/7 |
1-66046117-A-C | LEPR | c.494+7985A>C | - | IntronicSNV | - | 5/19 |
16-56387469-A-G | GNAO1 | c.878-1309A>G | - | IntronicSNV | - | 7/8 |
19-4112988-G-A | MAP2K2 | c.304-2335C>T | - | IntronicSNV | - | 2/10 |
22-20753615-G-A | ZNF74 | c.121-1307G>A | - | IntronicSNV | - | 2/4 |
8-14246089-G-A | SGCZ | c.235-64376C>T | - | IntronicSNV | - | 2/7 |
18-47016046-A-G | RPL17 | c.316-126T>C | - | IntronicSNV | - | 5/6 |
10-3184507-A-G | PITRM1 | c.2648+1074T>C | - | IntronicSNV | - | 23/26 |
10-71916461-G-A | SAR1A | c.348+1059C>T | - | IntronicSNV | - | 6/7 |
5-150432388-C-T | TNIP1 | c.628-568G>A | - | IntronicSNV | - | 6/17 |
2-16744902-A-G | FAM49A | c.298+355T>C | - | IntronicSNV | - | 5/11 |
2-69031562-C-T | ARHGAP25 | c.446-2846C>T | - | IntronicSNV | - | 3/9 |
20-44674743-A-C | SLC12A5 | c.1757+108A>C | - | IntronicSNV | - | 13/25 |
6-51800445-A-G | PKHD1 | c.5909-1325T>C | - | IntronicSNV | - | 36/66 |
10-6508377-A-C | PRKCQ | c.1354-2011T>G | - | IntronicSNV | - | 12/17 |
6-97491756-G-A | KLHL32 | c.312+2281G>A | - | IntronicSNV | - | 4/10 |
22-20753615-G-T | ZNF74 | c.121-1307G>T | - | IntronicSNV | - | 2/4 |
6-51835484-C-T | PKHD1 | c.5752-10660G>A | - | IntronicSNV | - | 35/66 |
20-45602299-C-A | EYA2 | c.1-16351C>A | - | IntronicSNV | - | 1/15 |
8-11286146-C-A | FAM167A | c.382-4001G>T | - | IntronicSNV | - | 2/2 |
5-179687013-T-C | MAPK9 | c.450+1671A>G | - | IntronicSNV | - | 5/6 |
8-14246089-G-T | SGCZ | c.235-64376C>A | - | IntronicSNV | - | 2/7 |
19-17294296-C-T | MYO9B | c.2334-342C>T | - | IntronicSNV | - | 15/39 |
10-71916461-G-T | SAR1A | c.348+1059C>A | - | IntronicSNV | - | 6/7 |
15-61103590-A-G | RORA | c.167-132705T>C | - | IntronicSNV | - | 1/10 |
14-33625685-C-A | NPAS3 | c.141-58703C>A | - | IntronicSNV | - | 2/11 |
9-16480296-C-T | BNC2 | c.667-42774G>A | - | intron_variant | - | 4/5 |
14-23754580-A-G | HOMEZ | c.40+542T>C | - | IntronicSNV | - | 1/1 |
15-64607472-A-G | CSNK1G1 | c.1-14774T>C | - | IntronicSNV | - | 1/11 |
10-6508377-A-T | PRKCQ | c.1354-2011T>A | - | IntronicSNV | - | 12/17 |
5-152965296-G-C | GRIA1 | c.221-61192G>C | - | IntronicSNV | - | 2/15 |
10-5852230-T-C | GDI2 | c.45+2947A>G | - | IntronicSNV | - | 1/10 |
7-22268760-C-T | RAPGEF5 | c.870+1705G>A | - | intron_variant | - | 8/25 |
4-83595614-C-T | SCD5 | c.569+6246G>A | - | IntronicSNV | - | 3/3 |
5-152965296-G-T | GRIA1 | c.221-61192G>T | - | IntronicSNV | - | 2/15 |
5-152965296-G-A | GRIA1 | c.221-61192G>A | - | IntronicSNV | - | 2/15 |
16-11170047-A-T | CLEC16A | c.2116+15168A>T | - | IntronicSNV | - | 19/23 |
1-234273318-G-T | SLC35F3 | c.284-93845G>T | - | IntronicSNV | - | 2/7 |
22-30893946-G-A | SEC14L4 | c.131-1988C>T | - | IntronicSNV | - | 2/11 |
16-11170047-A-G | CLEC16A | c.2116+15168A>G | - | IntronicSNV | - | 19/23 |
16-24202615-A-T | PRKCB | c.1863+64A>T | - | IntronicSNV | - | 16/16 |
2-191128842-G-A | HIBCH | c.439-2882C>T | - | IntronicSNV | - | 6/13 |
18-61577291-A-G | SERPINB10 | c.-10+2017A>G | - | intron_variant | - | 1/7 |
5-179432096-G-C | RNF130 | c.693+7965C>G | - | IntronicSNV | - | 3/8 |
11-60711887-G-A | SLC15A3 | c.849-579C>T | - | IntronicSNV | - | 2/7 |
6-36792006-C-A | CPNE5 | c.96-1132G>T | - | IntronicSNV | - | 1/20 |
11-60711887-G-C | SLC15A3 | c.849-579C>G | - | IntronicSNV | - | 2/7 |
8-22570935-T-C | PEBP4 | c.632A>G | p.Glu211Gly | Missense | 7/7 | - |
6-36747406-C-T | CPNE5 | c.529-672G>A | - | IntronicSNV | - | 8/20 |
6-36747406-C-G | CPNE5 | c.529-672G>C | - | IntronicSNV | - | 8/20 |
5-149115155-T-C | PPARGC1B | c.78+5172T>C | - | IntronicSNV | - | 1/11 |
10-6275145-T-C | PFKFB3 | c.*240T>C | - | 3-UTRSNV | 15/15 | - |
18-44294533-G-A | ST8SIA5 | c.132-9906C>T | - | IntronicSNV | - | 1/6 |
1-154732308-A-G | KCNN3 | c.1448+12143T>C | - | IntronicSNV | - | 3/7 |
5-148551165-A-C | ABLIM3 | c.14-11850A>C | - | IntronicSNV | - | 2/23 |
5-148551165-A-G | ABLIM3 | c.14-11850A>G | - | IntronicSNV | - | 2/23 |
1-68634030-C-T | WLS | c.380-9100G>A | - | IntronicSNV | - | 2/11 |
16-82196889-C-T | MPHOSPH6 | c.164+798G>A | - | IntronicSNV | - | 2/4 |
2-48984391-C-T | STON1-GTF2A1L | c.3442-19028C>T | - | IntronicSNV | - | 10/10 |
3-55571517-A-G | ERC2 | c.*40-26213T>C | - | intron_variant | - | 17/17 |
12-7949230-G-A | NANOG | c.*1539G>A | - | IntergenicSNV | 4/4 | - |
1-112451681-A-G | KCND3 | c.1106+72562T>C | - | IntronicSNV | - | 2/6 |
4-21920543-C-T | KCNIP4 | c.61+29651G>A | - | IntronicSNV | - | 1/8 |
7-45105146-A-G | CCM2 | c.472+901A>G | - | IntronicSNV | - | 4/9 |
6-51779638-A-G | PKHD1 | c.6122-2264T>C | - | IntronicSNV | - | 37/66 |
14-34200151-G-A | NPAS3 | c.734-4269G>A | - | IntronicSNV | - | 6/11 |
1-115052708-C-T | TRIM33 | c.526+464G>A | - | IntronicSNV | - | 1/19 |
1-111860025-G-A | CHIA | c.1-281G>A | - | IntronicSNV | - | 2/9 |
17-9465320-A-C | STX8 | c.118-4475T>G | - | IntronicSNV | - | 2/7 |
14-72449351-A-G | RGS6 | c.84+17759A>G | - | IntronicSNV | - | 2/17 |
5-115885672-G-A | SEMA6A | c.-39+24209C>T | - | intron_variant | - | 1/18 |
19-17337344-T-G | OCEL1 | c.70-158T>G | - | IntronicSNV | - | 1/5 |
19-17337344-T-C | OCEL1 | c.70-158T>C | - | IntronicSNV | - | 1/5 |
4-7215934-T-C | SORCS2 | c.480+21081T>C | - | IntronicSNV | - | 1/26 |
9-4129895-C-T | GLIS3 | c.1-4031G>A | - | IntronicSNV | - | 1/9 |
5-148917992-T-C | CSNK1A1 | c.230+11646A>G | - | IntronicSNV | - | 2/9 |
11-122932409-A-G | HSPA8 | c.-6+363T>C | - | intron_variant | - | 1/8 |
10-22912425-T-A | PIP4K2A | c.145-13779A>T | - | IntronicSNV | - | 1/9 |
14-34200151-G-T | NPAS3 | c.734-4269G>T | - | IntronicSNV | - | 6/11 |
9-8345072-G-A | PTPRD | c.3432-3094C>T | - | IntronicSNV | - | 23/29 |
10-91211531-G-A | SLC16A12 | c.201-7915C>T | - | IntronicSNV | - | 3/7 |
22-37323988-C-G | CSF2RB | c.392-1456C>G | - | IntronicSNV | - | 4/13 |
22-37323988-C-T | CSF2RB | c.392-1456C>T | - | IntronicSNV | - | 4/13 |
2-46097897-G-T | PRKCE | c.412+27695G>T | - | IntronicSNV | - | 2/14 |
15-49558026-T-C | GALK2 | c.472-16158T>C | - | IntronicSNV | - | 5/9 |
22-39710244-G-C | RPL3 | c.850-31C>G | - | IntronicSNV | - | 6/9 |
2-116055374-C-T | DPP10 | c.61-11441C>T | - | IntronicSNV | - | 1/25 |
18-61622086-G-C | HMSD | c.222+295G>C | - | IntronicSNV | - | 3/3 |
18-61622086-G-A | HMSD | c.222+295G>A | - | IntronicSNV | - | 3/3 |
11-120156378-C-A | POU2F3 | c.139-12596C>A | - | IntronicSNV | - | 3/12 |
4-16185525-G-A | TAPT1 | c.916+2633C>T | - | IntronicSNV | - | 7/13 |
11-120156378-C-T | POU2F3 | c.139-12596C>T | - | IntronicSNV | - | 3/12 |
9-118935491-G-A | PAPPA | c.416-13942G>A | - | IntronicSNV | - | 1/21 |
2-45963001-G-T | PRKCE | c.348+83414G>T | - | IntronicSNV | - | 1/14 |
10-74662104-G-A | OIT3 | c.544+1862G>A | - | IntronicSNV | - | 3/8 |
11-96016891-G-A | MAML2 | c.513+57656C>T | - | IntronicSNV | - | 1/4 |
2-84963376-T-G | DNAH6 | c.10342+2673T>G | - | IntronicSNV | - | 62/76 |
6-36789547-A-G | CPNE5 | c.183+343T>C | - | IntronicSNV | - | 3/20 |
2-84963376-T-C | DNAH6 | c.10342+2673T>C | - | IntronicSNV | - | 62/76 |
2-46283677-G-A | PRKCE | c.1438-29670G>A | - | IntronicSNV | - | 10/14 |
20-36429223-C-T | CTNNBL1 | c.1032-2046C>T | - | IntronicSNV | - | 10/15 |
19-11226944-C-T | LDLR | c.1705+56C>T | - | IntronicSNV | - | 11/17 |
2-31181139-C-T | GALNT14 | c.466+124G>A | - | IntronicSNV | - | 4/14 |
1-116525672-G-A | SLC22A15 | c.87+6337G>A | - | IntronicSNV | - | 1/11 |
5-149508475-C-T | PDGFRB | c.1579+845G>A | - | IntronicSNV | - | 10/22 |
6-152495843-A-G | SYNE1 | c.23627+1686T>C | - | IntronicSNV | - | 130/145 |
3-29851932-T-C | RBMS3 | c.634+47452T>C | - | IntronicSNV | - | 6/13 |
15-60677123-C-G | ANXA2 | c.48+1104G>C | - | IntronicSNV | - | 3/13 |
7-133729339-G-A | EXOC4 | c.2688-19705G>A | - | IntronicSNV | - | 17/17 |
2-46324866-C-A | PRKCE | c.1592+11365C>A | - | IntronicSNV | - | 11/14 |
2-46324866-C-G | PRKCE | c.1592+11365C>G | - | IntronicSNV | - | 11/14 |
2-46324866-C-T | PRKCE | c.1592+11365C>T | - | IntronicSNV | - | 11/14 |
15-51694492-A-G | GLDN | c.1178+552A>G | - | IntronicSNV | - | 9/9 |
3-4607533-G-A | ITPR1 | c.163+44755G>A | - | IntronicSNV | - | 4/57 |
3-21771769-A-G | ZNF385D | c.22+20618T>C | - | IntronicSNV | - | 1/7 |
6-28269663-A-G | PGBD1 | c.2032A>G | p.Ile678Val | Missense | 7/7 | - |
8-100534093-G-T | VPS13B | c.4820+855G>T | - | IntronicSNV | - | 30/61 |
16-81889882-A-C | PLCG2 | c.337+1690A>C | - | IntronicSNV | - | 3/32 |
16-80632586-A-G | CDYL2 | c.*5699T>C | - | IntergenicSNV | 7/7 | - |
22-33181575-T-C | SYN3 | c.708+79327A>G | - | IntronicSNV | - | 6/13 |
3-56287524-G-A | ERC2 | c.1074+42523C>T | - | IntronicSNV | - | 3/17 |
20-15816595-C-A | MACROD2 | c.646-26795C>A | - | IntronicSNV | - | 8/16 |
19-17395003-A-G | ANKLE1 | c.1304A>G | - | missense_variant | 6/9 | - |
20-15816595-C-T | MACROD2 | c.646-26795C>T | - | IntronicSNV | - | 8/16 |
15-61200750-G-A | RORA | c.167-229865C>T | - | IntronicSNV | - | 1/10 |
3-158892766-C-T | IQCJ-SCHIP1 | c.10-70866C>T | - | IntronicSNV | - | 1/10 |
18-67187923-C-A | DOK6 | c.67-43800C>A | - | IntronicSNV | - | 1/7 |
8-70628283-G-A | SLCO5A1 | c.1424-10819C>T | - | IntronicSNV | - | 5/9 |
4-8421345-C-T | ACOX3 | c.1-3097G>A | - | IntronicSNV | - | 1/16 |
19-18461458-C-T | PGPEP1 | c.88-5247C>T | - | IntronicSNV | - | 2/4 |
15-100763824-G-T | ADAMTS17 | c.1076-24196C>A | - | IntronicSNV | - | 7/21 |
7-129360201-G-T | NRF1 | c.1223+2985G>T | - | IntronicSNV | - | 9/10 |
12-26224846-C-A | RASSF8 | c.1138+4200C>A | - | IntronicSNV | - | 5/5 |
11-120107411-G-A | POU2F3 | c.29G>A | p.Gly10Glu | Missense | 1/13 | - |
14-23264270-T-C | SLC7A7 | c.500-15010A>G | - | IntronicSNV | - | 3/10 |
10-98792425-A-T | SLIT1 | c.2439-991T>A | - | IntronicSNV | - | 23/36 |
11-120107411-G-T | POU2F3 | c.29G>T | p.Gly10Val | Missense | 1/13 | - |
10-5696482-G-A | ASB13 | c.44-1469C>T | - | IntronicSNV | - | 1/5 |
1-64677055-G-A | UBE2U | c.339+533G>A | - | IntronicSNV | - | 4/8 |
11-119989892-A-G | TRIM29 | c.1529-863T>C | - | IntronicSNV | - | 6/8 |
11-119989892-A-T | TRIM29 | c.1529-863T>A | - | IntronicSNV | - | 6/8 |
8-3938481-T-C | CSMD1 | c.416-48860A>G | - | IntronicSNV | - | 3/69 |
3-30718429-A-C | TGFBR2 | c.1471+2691A>C | - | IntronicSNV | - | 6/7 |
5-148528107-C-T | ABLIM3 | c.13+6436C>T | - | IntronicSNV | - | 2/23 |
9-17274319-G-T | CNTLN | c.983+455G>T | - | IntronicSNV | - | 6/25 |
8-4611924-T-C | CSMD1 | c.86-116844A>G | - | IntronicSNV | - | 1/69 |
1-114687316-A-G | SYT6 | c.1-4823T>C | - | IntronicSNV | - | 1/7 |
16-1867040-T-A | HAGH | c.646-45A>T | - | IntronicSNV | - | 6/8 |
6-33675851-A-C | UQCC2 | c.138+3475T>G | - | IntronicSNV | - | 1/3 |
8-22576562-T-C | PEBP4 | c.518-5513A>G | - | IntronicSNV | - | 6/6 |
1-160466356-A-G | SLAMF6 | c.50-173T>C | - | IntronicSNV | - | 1/7 |
4-123788495-T-C | FGF2 | c.578-8981T>C | - | IntronicSNV | - | 1/2 |
6-33675851-A-T | UQCC2 | c.138+3475T>A | - | IntronicSNV | - | 1/3 |
19-17193551-A-G | MYO9B | c.-59+6867A>G | - | intron_variant | - | 1/39 |
3-160513520-T-G | PPM1L | c.399+39025T>G | - | IntronicSNV | - | 1/3 |
7-107906597-C-T | NRCAM | c.1-26089G>A | - | IntergenicSNV | - | 1/32 |
1-64643277-C-T | ROR1 | c.1553C>T | p.Thr518Met | Missense | 9/9 | - |
10-6510534-G-A | PRKCQ | c.1354-4168C>T | - | IntronicSNV | - | 12/17 |
1-64643277-C-A | ROR1 | c.1553C>A | p.Thr518Lys | Missense | 9/9 | - |
4-21913523-T-G | KCNIP4 | c.61+36671A>C | - | IntronicSNV | - | 1/8 |
4-21913523-T-A | KCNIP4 | c.61+36671A>T | - | IntronicSNV | - | 1/8 |
1-15532130-C-T | TMEM51 | c.1-9454C>T | - | IntronicSNV | - | 1/2 |
18-44278985-T-C | ST8SIA5 | c.224+5550A>G | - | IntronicSNV | - | 2/6 |
15-61338070-A-G | RORA | c.166+183182T>C | - | IntronicSNV | - | 1/10 |
6-53205947-G-A | ELOVL5 | c.-9+7668C>T | - | intron_variant | - | 1/7 |
15-33720623-T-C | RYR3 | c.52-44997T>C | - | IntronicSNV | - | 1/103 |
6-48005879-G-A | PTCHD4 | c.427-29029C>T | - | IntronicSNV | - | 1/2 |
10-22262372-C-T | DNAJC1 | c.222+29770G>A | - | IntronicSNV | - | 1/11 |
2-71901286-C-T | DYSF | c.5668-41C>T | - | IntronicSNV | - | 50/54 |
2-71901286-C-G | DYSF | c.5668-41C>G | - | IntronicSNV | - | 50/54 |
5-178675021-A-G | ADAMTS2 | c.688+24891T>C | - | IntronicSNV | - | 3/21 |
11-118872581-G-A | CCDC84 | c.383+2762G>A | - | IntronicSNV | - | 3/10 |
5-132933128-T-C | FSTL4 | c.126+6421A>G | - | IntronicSNV | - | 2/15 |
3-30716602-G-A | TGFBR2 | c.1471+864G>A | - | IntronicSNV | - | 6/7 |
1-234357921-A-T | SLC35F3 | c.284-9242A>T | - | IntronicSNV | - | 2/7 |
7-138467140-T-C | ATP6V0A4 | c.-18+3763A>G | - | intron_variant | - | 2/21 |
14-53383910-G-A | FERMT2 | c.391+1931C>T | - | IntronicSNV | - | 3/14 |
2-191312906-T-C | MFSD6 | c.1532+10619T>C | - | IntronicSNV | - | 3/7 |
11-120161641-G-A | POU2F3 | c.139-7333G>A | - | IntronicSNV | - | 3/12 |
19-11256176-C-T | SPC24 | c.*1683G>A | - | IntergenicSNV | 5/5 | - |
19-17715183-T-C | UNC13A | c.*1680A>G | - | 3-UTRSNV | 44/44 | - |
18-61586385-T-C | SERPINB10 | c.373-637T>C | - | IntronicSNV | - | 4/7 |
14-90621770-G-T | KCNK13 | c.335-28685G>T | - | IntronicSNV | - | 1/1 |
2-84932836-G-A | DNAH6 | c.8692G>A | p.Val2898Ile | Missense | 52/77 | - |
5-132560150-C-A | FSTL4 | c.1313-242G>T | - | IntronicSNV | - | 10/15 |
6-33256471-T-C | WDR46 | c.280A>G | p.Thr94Ala | Missense | 3/15 | - |
12-26224846-C-G | RASSF8 | c.1138+4200C>G | - | IntronicSNV | - | 5/5 |
8-23389571-T-C | SLC25A37 | c.210+2846T>C | - | IntronicSNV | - | 1/3 |
1-16455052-C-T | EPHA2 | c.2825+877G>A | - | IntronicSNV | - | 16/16 |
1-16455052-C-A | EPHA2 | c.2825+877G>T | - | IntronicSNV | - | 16/16 |
10-102536007-A-C | PAX2 | c.411-3248A>C | - | IntronicSNV | - | 3/9 |
10-98792425-A-G | SLIT1 | c.2439-991T>C | - | IntronicSNV | - | 23/36 |
10-50109223-C-T | WDFY4 | c.7524-623C>T | - | IntronicSNV | - | 46/61 |
2-84778628-T-C | DNAH6 | c.1486-1414T>C | - | IntronicSNV | - | 9/76 |
15-61128890-G-A | RORA | c.167-158005C>T | - | IntronicSNV | - | 1/10 |
1-10777260-G-A | CASZ1 | c.-76-11659C>T | - | intron_variant | - | 2/15 |
19-5274384-C-T | PTPRS | c.92-29G>A | - | IntronicSNV | - | 2/37 |
19-5274384-C-A | PTPRS | c.92-29G>T | - | IntronicSNV | - | 2/37 |
19-5274384-C-G | PTPRS | c.92-29G>C | - | IntronicSNV | - | 2/37 |
14-51283148-C-T | NIN | c.183+5444G>A | - | IntronicSNV | - | 3/29 |
15-64967654-C-T | ZNF609 | c.2601C>T | p.Ala867Ala | Synonymous | 5/10 | - |
15-64967654-C-G | ZNF609 | c.2601C>G | p.Ala867Ala | Synonymous | 5/10 | - |
15-61376143-G-A | RORA | c.166+145109C>T | - | IntronicSNV | - | 1/10 |
17-76188753-C-G | AFMID | c.154+1612C>G | - | IntronicSNV | - | 2/10 |
5-132866184-T-G | FSTL4 | c.160+36693A>C | - | IntronicSNV | - | 3/15 |
9-92036427-A-C | SEMA4D | c.-381-3075T>G | - | intron_variant | - | 2/17 |
5-22397625-G-A | CDH12 | c.-333+7741C>T | - | intron_variant | - | 3/14 |
6-36759768-C-T | CPNE5 | c.528+42G>A | - | IntronicSNV | - | 8/20 |
6-36759768-C-A | CPNE5 | c.528+42G>T | - | IntronicSNV | - | 8/20 |
2-191226932-T-C | INPP1 | c.205-421T>C | - | IntronicSNV | - | 3/6 |
3-160475488-C-T | PPM1L | c.399+993C>T | - | IntronicSNV | - | 1/3 |
1-237422989-C-T | RYR2 | c.49-10808C>T | - | IntronicSNV | - | 1/104 |
4-7010504-G-A | TBC1D14 | c.1447-1100G>A | - | IntronicSNV | - | 9/13 |
6-47987903-G-A | PTCHD4 | c.427-11053C>T | - | IntronicSNV | - | 1/2 |
4-7612772-C-T | SORCS2 | c.649-27283C>T | - | IntronicSNV | - | 3/26 |
10-7235805-C-G | SFMBT2 | c.1698+3705G>C | - | IntronicSNV | - | 15/20 |
9-125024291-G-A | RBM18 | c.1-520C>T | - | IntronicSNV | - | 1/5 |
12-27495857-A-G | ARNTL2 | c.31+9821A>G | - | IntronicSNV | - | 1/16 |
18-44091622-C-A | LOXHD1 | c.5214-1844G>T | - | IntronicSNV | - | 33/39 |
2-29733801-G-A | ALK | c.1154+20980C>T | - | IntronicSNV | - | 4/28 |
8-22774668-A-C | PEBP4 | c.258+3029T>G | - | IntronicSNV | - | 3/6 |
13-20302974-T-C | PSPC1 | c.1158+1405A>G | - | IntronicSNV | - | 7/9 |
8-22774668-A-G | PEBP4 | c.258+3029T>C | - | IntronicSNV | - | 3/6 |
1-154713499-A-C | KCNN3 | c.1449-7879T>G | - | IntronicSNV | - | 3/7 |
17-10074301-C-T | GAS7 | c.183+27224G>A | - | IntronicSNV | - | 1/13 |
4-5327222-T-C | STK32B | c.261-5725T>C | - | IntronicSNV | - | 3/11 |
14-95699055-C-T | CLMN | c.83-2585G>A | - | IntronicSNV | - | 1/12 |
4-114069664-C-A | ANK2 | c.85-25908C>A | - | IntronicSNV | - | 1/45 |
9-135226280-T-C | SETX | c.1-1465A>G | - | IntronicSNV | - | 2/25 |
18-43640714-A-T | PSTPIP2 | c.33+11408T>A | - | IntronicSNV | - | 1/14 |
10-73337454-C-T | CDH23 | c.754-217C>T | - | IntronicSNV | - | 8/13 |
20-36404916-A-G | CTNNBL1 | c.751-831A>G | - | IntronicSNV | - | 7/15 |
2-234876371-G-A | TRPM8 | c.2025+972G>A | - | IntronicSNV | - | 15/25 |
5-9385813-G-A | SEMA5A | c.1-5755C>T | - | IntronicSNV | - | 2/22 |
6-31922254-A-C | NELFE | c.743-35T>G | - | IntronicSNV | - | 7/10 |
11-36093992-A-G | LDLRAD3 | c.194-9211A>G | - | IntronicSNV | - | 2/5 |
18-43590990-C-G | PSTPIP2 | c.354+157G>C | - | IntronicSNV | - | 5/14 |
7-122404277-G-A | CADPS2 | c.340-27155C>T | - | IntronicSNV | - | 1/29 |
9-17371690-C-T | CNTLN | c.1987+4975C>T | - | IntronicSNV | - | 13/25 |
9-17371690-C-G | CNTLN | c.1987+4975C>G | - | IntronicSNV | - | 13/25 |
18-43590990-C-T | PSTPIP2 | c.354+157G>A | - | IntronicSNV | - | 5/14 |
9-18640364-G-A | ADAMTSL1 | c.834+955G>A | - | IntronicSNV | - | 7/28 |
6-105745188-G-A | PREP | c.1318-8419C>T | - | IntronicSNV | - | 10/14 |
9-18640364-G-T | ADAMTSL1 | c.834+955G>T | - | IntronicSNV | - | 7/28 |
5-142008525-T-C | FGF1 | c.1-14833A>G | - | IntronicSNV | - | 1/3 |
1-114524661-C-A | OLFML3 | c.*270C>A | - | 3-UTRSNV | 3/3 | - |
6-39583135-T-C | KIF6 | c.510-2041A>G | - | IntronicSNV | - | 5/22 |
3-38184021-A-G | MYD88 | c.*1244A>G | - | 3-UTRSNV | 5/5 | - |
9-78793895-C-T | PCSK5 | c.1901-617C>T | - | IntronicSNV | - | 14/36 |
3-159254385-A-G | IQCJ-SCHIP1 | c.292-227847A>G | - | IntronicSNV | - | 4/10 |
3-2283337-C-T | CNTN4 | c.-145+2585C>T | - | intron_variant | - | 1/23 |
8-9610538-C-T | TNKS | c.3153+402C>T | - | IntronicSNV | - | 20/26 |
5-132785577-T-C | FSTL4 | c.161-48899A>G | - | IntronicSNV | - | 3/15 |
7-129030662-G-A | AHCYL2 | c.717+1087G>A | - | IntronicSNV | - | 4/16 |
12-56846490-C-T | MIP | c.606+366G>A | - | IntronicSNV | - | 3/3 |
7-3983402-C-T | SDK1 | c.848-7153C>T | - | IntronicSNV | - | 5/44 |
3-132150183-A-G | DNAJC13 | c.1-3212A>G | - | IntronicSNV | - | 1/55 |
22-17273728-T-G | XKR3 | c.589+6933A>C | - | IntronicSNV | - | 3/3 |
22-17273728-T-C | XKR3 | c.589+6933A>G | - | IntronicSNV | - | 3/3 |
11-30555332-G-A | MPPED2 | c.310+2209C>T | - | IntronicSNV | - | 2/5 |
12-103781254-G-T | C12orf42 | c.147+14131C>A | - | IntronicSNV | - | 3/5 |
16-82981400-G-T | CDH13 | c.158-84215G>T | - | IntronicSNV | - | 2/13 |
16-82981400-G-A | CDH13 | c.158-84215G>A | - | IntronicSNV | - | 2/13 |
15-61050081-C-T | RORA | c.167-79196G>A | - | IntronicSNV | - | 1/10 |
18-47651537-C-T | MYO5B | c.27+69600G>A | - | IntronicSNV | - | 1/39 |
3-16235042-C-T | GALNT15 | c.540-2225C>T | - | IntronicSNV | - | 1/9 |
4-8392821-A-T | ACOX3 | c.1300+1239T>A | - | IntronicSNV | - | 11/16 |
1-113934304-G-A | MAGI3 | c.316+333G>A | - | IntronicSNV | - | 1/20 |
8-23310478-T-C | ENTPD4 | c.1-3065A>G | - | IntronicSNV | - | 1/12 |
14-30230638-A-G | PRKD1 | c.265-35758T>C | - | IntronicSNV | - | 1/17 |
10-105541586-G-A | SH3PXD2A | c.154-14659C>T | - | IntronicSNV | - | 2/13 |
15-100780260-T-G | ADAMTS17 | c.1075+14081A>C | - | IntronicSNV | - | 7/21 |
10-71026510-C-A | HKDC1 | c.2751C>A | p.Asn917Lys | Missense | 18/18 | - |
3-139250649-A-G | RBP1 | c.438+6974T>C | - | IntronicSNV | - | 2/3 |
15-91426560-G-C | FURIN | c.*1452G>C | - | 3-UTRSNV | 16/16 | - |
14-71507601-G-A | PCNX1 | c.3868-4249G>A | - | IntronicSNV | - | 19/35 |
4-8075134-C-T | ABLIM2 | c.675+4221G>A | - | IntronicSNV | - | 6/20 |
18-43566304-T-G | PSTPIP2 | c.*9-888A>C | - | intron_variant | - | 14/14 |
10-131519274-G-A | MGMT | c.274+12967G>A | - | intron_variant | - | 3/4 |
1-234601586-G-A | TARBP1 | c.1249-132C>T | - | IntronicSNV | - | 4/29 |
2-33263907-T-G | LTBP1 | c.863+17634T>G | - | IntronicSNV | - | 3/33 |
11-6503127-G-A | TIMM10B | c.135+45G>A | - | IntronicSNV | - | 2/2 |
11-6503127-G-C | TIMM10B | c.135+45G>C | - | IntronicSNV | - | 2/2 |
1-114489973-A-G | HIPK1 | c.1077-5415A>G | - | IntronicSNV | - | 2/15 |
15-67446785-G-A | SMAD3 | c.207-10448G>A | - | IntronicSNV | - | 1/8 |
3-149257404-G-T | WWTR1 | c.771+2718C>A | - | IntronicSNV | - | 4/6 |
2-84834592-C-A | DNAH6 | c.3294+373C>A | - | IntronicSNV | - | 21/76 |
2-84677140-A-G | SUCLG1 | c.98-264T>C | - | IntronicSNV | - | 1/8 |
8-72198387-A-G | EYA1 | c.826+12895T>C | - | IntronicSNV | - | 9/17 |
15-61126859-T-G | RORA | c.167-155974A>C | - | IntronicSNV | - | 1/10 |
2-40326142-T-C | SLC8A1 | c.*16251A>G | - | IntergenicSNV | 11/11 | - |
4-7363007-A-G | SORCS2 | c.481-35008A>G | - | IntronicSNV | - | 1/26 |
13-23967690-A-G | SACS | c.20+17669T>C | - | IntronicSNV | - | 2/9 |
6-33365640-T-C | KIFC1 | c.13-166T>C | - | IntronicSNV | - | 1/10 |
9-116680454-G-A | ZNF618 | c.33+41761G>A | - | IntronicSNV | - | 1/13 |
2-84936200-A-G | DNAH6 | c.9049-267A>G | - | IntronicSNV | - | 54/76 |
2-166871905-C-A | SCN1A | c.3517+212G>T | - | IntronicSNV | - | 20/28 |
4-7669798-T-C | SORCS2 | c.1161+858T>C | - | IntronicSNV | - | 8/26 |
20-49133069-A-G | PTPN1 | c.-66+5942A>G | - | intron_variant | - | 1/8 |
13-113677170-G-A | MCF2L | c.164-1788G>A | - | IntronicSNV | - | 2/29 |
18-47651537-C-G | MYO5B | c.27+69600G>C | - | IntronicSNV | - | 1/39 |
7-51145573-T-C | COBL | c.1096+7290A>G | - | IntronicSNV | - | 7/12 |
6-42174558-A-G | MRPS10 | c.*1469T>C | - | 3-UTRSNV | 7/7 | - |
18-43777831-T-A | C18orf25 | c.1-18016T>A | - | IntronicSNV | - | 1/4 |
5-132727291-C-T | FSTL4 | c.409+9139G>A | - | IntronicSNV | - | 4/15 |
4-8053805-T-G | ABLIM2 | c.822+2110A>C | - | IntronicSNV | - | 8/20 |
17-44177993-C-A | KANSL1 | c.1290-5926G>T | - | IntronicSNV | - | 2/14 |
16-88035356-G-T | BANP | c.363-4340G>T | - | IntronicSNV | - | 4/11 |
20-49159399-C-T | PTPN1 | c.1-22172C>T | - | IntronicSNV | - | 1/8 |
18-47394538-T-C | MYO5B | c.3604-3788A>G | - | IntronicSNV | - | 27/39 |
1-226755971-C-T | STUM | c.202+19164C>T | - | IntronicSNV | - | 1/3 |
6-36793335-T-C | CPNE5 | c.96-2461A>G | - | IntronicSNV | - | 1/20 |
18-47456441-A-G | MYO5B | c.2004-473T>C | - | IntronicSNV | - | 16/39 |
12-105092807-T-G | CHST11 | c.205-57920T>G | - | IntronicSNV | - | 2/2 |
14-93693604-T-G | UBR7 | c.*223T>G | - | 3-UTRSNV | 11/11 | - |
15-49253961-C-A | SHC4 | c.585+667G>T | - | IntronicSNV | - | 1/11 |
15-49253961-C-T | SHC4 | c.585+667G>A | - | IntronicSNV | - | 1/11 |
1-160142361-T-A | ATP1A4 | c.1854+814T>A | - | IntronicSNV | - | 12/21 |
14-93693604-T-A | UBR7 | c.*223T>A | - | 3-UTRSNV | 11/11 | - |
2-176006027-C-T | ATF2 | c.1-4856G>A | - | IntronicSNV | - | 2/13 |
12-26787373-T-C | ITPR2 | c.2741-2381A>G | - | IntronicSNV | - | 21/56 |
5-149656212-T-C | CAMK2A | c.63-3490A>G | - | IntronicSNV | - | 1/18 |
9-80930439-C-T | PSAT1 | c.741-2153C>T | - | IntronicSNV | - | 6/7 |
16-82182104-T-C | MPHOSPH6 | c.*232A>G | - | 3-UTRSNV | 5/5 | - |
4-83613357-C-T | SCD5 | c.364-11292G>A | - | IntronicSNV | - | 2/3 |
20-45315769-T-C | TP53RK | c.385A>G | p.Thr129Ala | Missense | 2/2 | - |
19-17394504-A-C | ANKLE1 | c.931A>C | - | missense_variant | 5/9 | - |
20-50052641-T-G | NFATC2 | c.1850-343A>C | - | IntronicSNV | - | 6/10 |
20-50052641-T-C | NFATC2 | c.1850-343A>G | - | IntronicSNV | - | 6/10 |
8-22596518-T-A | PEBP4 | c.358-11785A>T | - | IntronicSNV | - | 4/6 |
8-22596518-T-C | PEBP4 | c.358-11785A>G | - | IntronicSNV | - | 4/6 |
4-8045469-A-G | ABLIM2 | c.900+1422T>C | - | IntronicSNV | - | 9/20 |
2-45972516-T-G | PRKCE | c.348+92929T>G | - | IntronicSNV | - | 1/14 |
17-72934425-A-G | OTOP3 | c.106+2423A>G | - | IntronicSNV | - | 1/6 |
1-27772009-T-C | WASF2 | c.1-16609A>G | - | IntronicSNV | - | 1/8 |
1-154141908-A-G | TPM3 | c.776-49T>C | - | IntronicSNV | - | 8/9 |
10-6001483-A-G | IL15RA | c.616+234T>C | - | IntronicSNV | - | 5/6 |
5-64542365-T-G | ADAMTS6 | c.1831-4332A>C | - | IntronicSNV | - | 14/24 |
3-7555753-G-A | GRM7 | c.1515+52344G>A | - | IntronicSNV | - | 7/9 |
1-115200808-A-G | DENND2C | c.-205+11796T>C | - | intron_variant | - | 1/17 |
12-48360620-A-G | TMEM106C | c.602+105A>G | - | IntronicSNV | - | 6/7 |
9-8339606-C-T | PTPRD | c.4024-559G>A | - | IntronicSNV | - | 26/29 |
12-88926787-C-T | KITLG | c.130-507G>A | - | IntronicSNV | - | 2/8 |
10-76601805-T-G | KAT6B | c.1-811T>G | - | IntronicSNV | - | 2/17 |
5-148894875-T-C | CSNK1A1 | c.457-2103A>G | - | IntronicSNV | - | 4/9 |
7-23643440-C-T | CCDC126 | c.-146+5770C>T | - | intron_variant | - | 2/3 |
13-21552462-C-T | LATS2 | c.2772+1368G>A | - | IntronicSNV | - | 7/7 |
1-6987405-T-C | CAMTA1 | c.234+102135T>C | - | IntronicSNV | - | 3/22 |
10-33236305-T-A | ITGB1 | c.-1+10768A>T | - | intron_variant | - | 1/15 |
1-217781288-A-T | GPATCH2 | c.1098+2375T>A | - | IntronicSNV | - | 5/9 |
7-133715210-G-A | EXOC4 | c.2687+22622G>A | - | IntronicSNV | - | 17/17 |
1-234365086-T-G | SLC35F3 | c.284-2077T>G | - | IntronicSNV | - | 2/7 |
14-24587545-A-G | DCAF11 | c.578-52A>G | - | IntronicSNV | - | 6/14 |
17-16359014-T-C | LRRC75A | c.375+6558A>G | - | IntronicSNV | - | 2/2 |