Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-75598070-C-A | LHX8 | c.18+1653C>A | - | IntronicSNV | - | 2/9 |
20-25441433-C-T | NINL | c.3696+725G>A | - | IntronicSNV | - | 21/23 |
7-101537526-G-A | CUX1 | c.64-21869G>A | - | IntronicSNV | - | 1/22 |
16-89900502-G-A | SPIRE2 | c.244+5300G>A | - | IntronicSNV | - | 1/14 |
22-34157526-G-A | LARGE1 | c.1-63C>T | - | 5-UTRSNV | 2/15 | - |
8-23077163-C-T | TNFRSF10A | c.306+5106G>A | - | IntronicSNV | - | 1/9 |
8-23077163-C-G | TNFRSF10A | c.306+5106G>C | - | IntronicSNV | - | 1/9 |
20-252706-T-C | C20orf96 | c.1032-798A>G | - | IntronicSNV | - | 10/10 |
20-252706-T-A | C20orf96 | c.1032-798A>T | - | IntronicSNV | - | 10/10 |
7-2874004-T-G | GNA12 | c.309+9483A>C | - | IntronicSNV | - | 1/3 |
16-89896220-T-C | SPIRE2 | c.244+1018T>C | - | IntronicSNV | - | 1/14 |
6-149861892-G-A | PPIL4 | c.321+186C>T | - | IntronicSNV | - | 4/12 |
6-135351720-G-A | HBS1L | c.304+8991C>T | - | IntronicSNV | - | 3/16 |
3-62735090-T-G | CADPS | c.888+4026A>C | - | IntronicSNV | - | 3/29 |
3-62735090-T-A | CADPS | c.888+4026A>T | - | IntronicSNV | - | 3/29 |
9-116977480-G-A | COL27A1 | c.2367+4174G>A | - | IntronicSNV | - | 12/60 |
3-15857465-A-G | ANKRD28 | c.28-20652T>C | - | IntronicSNV | - | 1/27 |
11-46692689-C-T | ATG13 | c.1366-1116C>T | - | IntronicSNV | - | 16/16 |
5-79476737-T-G | SERINC5 | c.196-2851A>C | - | IntronicSNV | - | 2/12 |
1-92224067-C-T | TGFBR3 | c.384+103G>A | - | IntronicSNV | - | 4/16 |
3-188289697-C-T | LPP | c.430-37252C>T | - | IntronicSNV | - | 5/10 |
5-118436850-A-G | DMXL1 | c.214-780A>G | - | IntronicSNV | - | 2/42 |
3-196799374-T-C | DLG1 | c.2105-3243A>G | - | IntronicSNV | - | 19/25 |
9-8729721-A-G | PTPRD | c.64+4059T>C | - | IntronicSNV | - | 1/29 |
12-124887946-A-G | NCOR2 | c.1483-839T>C | - | IntronicSNV | - | 15/48 |
17-19153417-T-C | EPN2 | c.-294+12573T>C | - | intron_variant | - | 1/10 |
5-170149554-T-C | KCNIP1 | c.403-163T>C | - | IntronicSNV | - | 4/7 |
16-90031427-T-A | DEF8 | c.1436+444T>A | - | IntronicSNV | - | 12/12 |
10-95202684-G-C | MYOF | c.236+9123C>G | - | IntronicSNV | - | 3/53 |
14-71054478-T-C | MED6 | c.583-1978A>G | - | IntronicSNV | - | 6/7 |
6-26184102-G-T | HIST1H2BE | c.79G>T | p.Gly27Cys | Missense | 1/1 | - |
6-26184102-G-C | HIST1H2BE | c.79G>C | p.Gly27Arg | Missense | 1/1 | - |
11-10668395-T-C | MRVI1 | c.198+5177A>G | - | IntronicSNV | - | 1/19 |
17-77133677-G-C | RBFOX3 | c.1-21880C>G | - | IntronicSNV | - | 4/14 |
10-79274250-A-G | KCNMA1 | c.379-110469T>C | - | IntronicSNV | - | 1/26 |
9-34116083-T-C | DCAF12 | c.334-8520A>G | - | IntronicSNV | - | 2/8 |
9-8729637-C-T | PTPRD | c.64+4143G>A | - | IntronicSNV | - | 1/29 |
9-8729637-C-G | PTPRD | c.64+4143G>C | - | IntronicSNV | - | 1/29 |
3-30686414-A-G | TGFBR2 | c.338+7A>G | - | IntronicSNV | - | 3/7 |
16-89933420-A-G | SPIRE2 | c.1779-1177A>G | - | IntronicSNV | - | 12/14 |
22-43338353-C-A | PACSIN2 | c.-78+4550G>T | - | intron_variant | - | 1/10 |
20-62095558-C-A | KCNQ2 | c.296+7963G>T | - | IntronicSNV | - | 1/7 |
3-195258801-T-C | PPP1R2 | c.123-2099A>G | - | IntronicSNV | - | 1/5 |
3-195248787-G-A | PPP1R2 | c.403+1703C>T | - | IntronicSNV | - | 4/5 |
6-135263557-C-A | ALDH8A1 | c.432G>T | p.Pro144Pro | Synonymous | 3/6 | - |
X-74336006-C-A | ABCB7 | c.169-1337G>T | - | IntronicSNV | - | 1/15 |
22-34135929-T-C | LARGE1 | c.106+21429A>G | - | IntronicSNV | - | 2/14 |
2-109513601-A-G | EDAR | c.1109T>C | p.Val370Ala | Missense | 12/12 | - |
6-135309131-T-C | HBS1L | c.958-202A>G | - | IntronicSNV | - | 7/16 |
2-216294663-G-A | FN1 | c.685+775C>T | - | IntronicSNV | - | 5/43 |
1-169162578-C-A | NME7 | c.991-23786G>T | - | IntronicSNV | - | 10/11 |
1-169162578-C-G | NME7 | c.991-23786G>C | - | IntronicSNV | - | 10/11 |
6-80376629-C-T | SH3BGRL2 | c.46-6702C>T | - | IntronicSNV | - | 1/3 |
3-169276394-G-A | MECOM | c.37+104730C>T | - | IntronicSNV | - | 1/16 |
1-169137453-C-A | NME7 | c.1098+1232G>T | - | IntronicSNV | - | 11/11 |
4-185121733-T-C | ENPP6 | c.241+16999A>G | - | IntronicSNV | - | 1/7 |
22-20809718-G-A | KLHL22 | c.1305+2377C>T | - | IntronicSNV | - | 5/6 |
3-15797454-A-G | ANKRD28 | c.191-4127T>C | - | IntronicSNV | - | 3/27 |
3-195981859-A-C | PCYT1A | c.217+2800T>G | - | IntronicSNV | - | 4/9 |
22-43321806-T-A | PACSIN2 | c.1-13720A>T | - | IntronicSNV | - | 1/10 |
10-14108324-G-A | FRMD4A | c.46-207412C>T | - | IntronicSNV | - | 2/24 |
6-135257543-G-C | ALDH8A1 | c.443-3373C>G | - | IntronicSNV | - | 3/5 |
7-28120261-A-G | JAZF1 | c.116-88661T>C | - | IntronicSNV | - | 1/4 |
10-82108610-T-G | DYDC1 | c.249+3047A>C | - | IntronicSNV | - | 4/7 |
16-89956253-T-C | TCF25 | c.614+2128T>C | - | IntronicSNV | - | 5/17 |
7-28189549-T-A | JAZF1 | c.115+30533A>T | - | IntronicSNV | - | 1/4 |
11-61579427-C-T | FADS1 | c.684+516G>A | - | IntronicSNV | - | 3/11 |
13-26534077-C-T | ATP8A2 | c.3184-1636C>T | - | IntronicSNV | - | 33/36 |
11-100901599-G-A | PGR | c.*8248C>T | - | 3-UTRSNV | 8/8 | - |
6-32184375-A-G | NOTCH4 | c.1861+347T>C | - | IntronicSNV | - | 11/29 |
16-89960618-C-T | TCF25 | c.828+352C>T | - | IntronicSNV | - | 7/17 |
1-198214016-A-G | NEK7 | c.58-8154A>G | - | IntronicSNV | - | 2/9 |
4-143461463-G-A | INPP4B | c.-289-72255C>T | - | intron_variant | - | 2/26 |
1-234290652-C-T | SLC35F3 | c.284-76511C>T | - | IntronicSNV | - | 2/7 |
6-20206244-C-A | MBOAT1 | c.99+6123G>T | - | IntronicSNV | - | 1/12 |
11-63173684-T-G | SLC22A9 | c.1074-285T>G | - | IntronicSNV | - | 6/9 |
3-108167500-G-A | MYH15 | c.2460-3758C>T | - | IntronicSNV | - | 22/41 |
16-31141993-C-T | KAT8 | c.1157+66C>T | - | IntronicSNV | - | 9/10 |
9-8728174-G-C | PTPRD | c.64+5606C>G | - | IntronicSNV | - | 1/29 |
9-8728174-G-A | PTPRD | c.64+5606C>T | - | IntronicSNV | - | 1/29 |
2-172397202-G-A | CYBRD1 | c.194-893G>A | - | IntronicSNV | - | 1/3 |
10-45938247-T-A | ALOX5 | c.1273-239T>A | - | IntronicSNV | - | 9/13 |
10-45938247-T-G | ALOX5 | c.1273-239T>G | - | IntronicSNV | - | 9/13 |
20-62329412-G-C | TNFRSF6B | c.620-221G>C | - | IntronicSNV | - | 2/2 |
20-62329412-G-A | TNFRSF6B | c.620-221G>A | - | IntronicSNV | - | 2/2 |
16-1757618-A-G | MAPK8IP3 | c.318+960A>G | - | IntronicSNV | - | 1/30 |
9-5231712-T-A | INSL4 | c.189T>A | p.Arg63Arg | Synonymous | 1/2 | - |
10-15155926-C-A | NMT2 | c.1171-964G>T | - | IntronicSNV | - | 9/11 |
20-62333115-G-A | ARFRP1 | c.417+67C>T | - | IntronicSNV | - | 6/6 |
1-205888143-G-C | SLC26A9 | c.2111-30C>G | - | IntronicSNV | - | 18/20 |
4-72385194-A-G | SLC4A4 | c.2035-12585A>G | - | IntronicSNV | - | 13/22 |
6-170654263-C-T | FAM120B | c.2018-2976C>T | - | IntronicSNV | - | 4/10 |
11-61623140-C-T | FADS2 | c.745-1343C>T | - | IntronicSNV | - | 5/11 |
15-59755449-C-T | FAM81A | c.294+3044C>T | - | IntronicSNV | - | 3/8 |
7-104409059-G-C | LHFPL3 | c.682+31701G>C | - | IntronicSNV | - | 2/2 |
11-61620274-T-C | FADS2 | c.745-4209T>C | - | IntronicSNV | - | 5/11 |
22-30037900-C-G | NF2 | c.364-291C>G | - | IntronicSNV | - | 3/15 |
11-61623140-C-A | FADS2 | c.745-1343C>A | - | IntronicSNV | - | 5/11 |
21-32930394-G-A | TIAM1 | c.-422+846C>T | - | intron_variant | - | 1/28 |
2-170204800-G-A | LRP2 | c.79+14031C>T | - | IntronicSNV | - | 1/78 |
22-43684532-G-A | SCUBE1 | c.484+2520C>T | - | IntronicSNV | - | 4/21 |
2-170204800-G-T | LRP2 | c.79+14031C>A | - | IntronicSNV | - | 1/78 |
3-30688511-G-A | TGFBR2 | c.338+2104G>A | - | IntronicSNV | - | 3/7 |
16-89718223-G-A | CHMP1A | c.28-169C>T | - | IntronicSNV | - | 2/6 |
2-133297890-C-T | GPR39 | c.857-104784C>T | - | IntronicSNV | - | 1/1 |
3-32345039-C-T | CMTM8 | c.148-53826C>T | - | IntronicSNV | - | 1/3 |
11-126228403-G-C | ST3GAL4 | c.-61+2206G>C | - | intron_variant | - | 1/10 |
8-82570631-C-T | IMPA1 | c.*955G>A | - | 3-UTRSNV | 9/9 | - |
3-132235044-A-G | DNAJC13 | c.5486-222A>G | - | IntronicSNV | - | 46/55 |
20-62076351-G-T | KCNQ2 | c.515-164C>A | - | IntronicSNV | - | 3/7 |
14-105994283-G-A | TMEM121 | c.1-889G>A | - | IntronicSNV | - | 1/1 |
22-39747671-T-A | SYNGR1 | c.99+1557T>A | - | IntronicSNV | - | 1/3 |
7-76842468-C-T | CCDC146 | c.157-23796C>T | - | IntronicSNV | - | 2/18 |
10-72253926-G-A | PALD1 | c.-30+15111G>A | - | intron_variant | - | 1/19 |
9-132844488-G-T | GPR107 | c.527-1356G>T | - | IntronicSNV | - | 5/19 |
16-89940608-A-C | TCF25 | c.192+341A>C | - | IntronicSNV | - | 1/17 |
1-204263809-G-A | PLEKHA6 | c.-94-19872C>T | - | intron_variant | - | 1/22 |
2-43015119-C-T | HAAO | c.159+550G>A | - | IntronicSNV | - | 2/9 |
10-49673134-C-T | ARHGAP22 | c.452-5200G>A | - | IntronicSNV | - | 4/9 |
9-37452108-C-T | ZBTB5 | c.1-9560G>A | - | IntronicSNV | - | 1/1 |
11-120165302-A-G | POU2F3 | c.139-3672A>G | - | IntronicSNV | - | 3/12 |
11-120165302-A-T | POU2F3 | c.139-3672A>T | - | IntronicSNV | - | 3/12 |
8-23074242-A-G | TNFRSF10A | c.307-4517T>C | - | IntronicSNV | - | 1/9 |
22-29902129-A-G | THOC5 | c.*2317T>C | - | IntergenicSNV | 20/20 | - |
11-131891216-T-A | NTM | c.167+109674T>A | - | IntronicSNV | - | 1/6 |
16-89985940-G-C | MC1R | c.274G>C | p.Val92Leu | Missense | 1/1 | - |
1-234604785-G-A | TARBP1 | c.1100-1389C>T | - | IntronicSNV | - | 3/29 |
1-8473813-C-T | RERE | c.1284+8974G>A | - | IntronicSNV | - | 12/22 |
11-126229617-C-T | ST3GAL4 | c.-61+3420C>T | - | intron_variant | - | 1/10 |
9-19740983-C-G | SLC24A2 | c.930+44952G>C | - | IntronicSNV | - | 1/9 |
6-29910587-G-A | HLA-A | c.127G>A | p.Glu43Lys | Missense | 2/8 | - |
20-62076351-G-A | KCNQ2 | c.515-164C>T | - | IntronicSNV | - | 3/7 |
14-105994283-G-T | TMEM121 | c.1-889G>T | - | IntronicSNV | - | 1/1 |
5-179047143-G-A | HNRNPH1 | c.398-735C>T | - | IntronicSNV | - | 4/13 |
6-170678670-T-A | FAM120B | c.2283+11264T>A | - | IntronicSNV | - | 6/10 |
1-114151847-C-A | MAGI3 | c.1019-5376C>A | - | IntronicSNV | - | 6/20 |
6-135249046-G-T | ALDH8A1 | c.861+1146C>A | - | IntronicSNV | - | 5/5 |
2-204193688-T-G | ABI2 | c.117+334T>G | - | IntronicSNV | - | 1/9 |
9-4847570-T-C | RCL1 | c.868-1877T>C | - | IntronicSNV | - | 7/8 |
9-4847570-T-A | RCL1 | c.868-1877T>A | - | IntronicSNV | - | 7/8 |
4-143475473-C-T | INPP4B | c.-289-86265G>A | - | intron_variant | - | 2/26 |
20-30791178-C-T | PLAGL2 | c.1-1197G>A | - | IntronicSNV | - | 1/2 |
10-77160682-C-T | ZNF503 | c.315+181G>A | - | IntronicSNV | - | 1/1 |
6-135529211-T-C | MYB | c.1797+4749T>C | - | IntronicSNV | - | 14/14 |
6-31604011-G-A | PRRC2A | c.5650G>A | p.Gly1884Ser | Missense | 26/31 | - |
11-61580635-C-T | FADS1 | c.486+80G>A | - | IntronicSNV | - | 2/11 |
16-89964309-A-G | TCF25 | c.1023-656A>G | - | IntronicSNV | - | 9/17 |
16-89991895-C-T | TUBB3 | c.57+2029C>T | - | IntronicSNV | - | 1/3 |
1-155868625-G-A | RIT1 | c.*1554C>T | - | 3-UTRSNV | 6/6 | - |
9-140329141-C-T | ENTPD8 | c.*225G>A | - | 3-UTRSNV | 9/9 | - |
22-30088442-T-C | NF2 | c.1738-2299T>C | - | IntronicSNV | - | 15/15 |
1-234353505-A-T | SLC35F3 | c.284-13658A>T | - | IntronicSNV | - | 2/7 |
1-234353505-A-G | SLC35F3 | c.284-13658A>G | - | IntronicSNV | - | 2/7 |
1-232603041-T-C | SIPA1L2 | c.2244-1879A>G | - | IntronicSNV | - | 6/20 |
1-153888820-C-T | GATAD2B | c.-2+6389G>A | - | intron_variant | - | 1/10 |
1-153888820-C-A | GATAD2B | c.-2+6389G>T | - | intron_variant | - | 1/10 |
8-39847648-G-A | IDO2 | c.706+291G>A | - | IntronicSNV | - | 8/10 |
10-12821821-A-G | CAMK1D | c.565+10023A>G | - | IntronicSNV | - | 5/9 |
11-61604967-C-T | FADS2 | c.208-283C>T | - | IntronicSNV | - | 1/11 |
4-47503661-T-C | ATP10D | c.1-10897T>C | - | IntronicSNV | - | 1/22 |
1-16758249-C-T | SPATA21 | c.1-383G>A | - | IntronicSNV | - | 1/12 |
11-61546592-A-G | MYRF | c.1987-143A>G | - | IntronicSNV | - | 14/25 |
19-54779389-C-G | LILRB2 | c.1647+416G>C | - | IntronicSNV | - | 13/13 |
15-65743050-A-G | DPP8 | c.2226+287T>C | - | IntronicSNV | - | 17/17 |
3-132055798-C-G | ACPP | c.457-502C>G | - | IntronicSNV | - | 4/9 |
20-30953162-T-C | ASXL1 | c.58-1025T>C | - | IntronicSNV | - | 1/12 |
19-54779389-C-T | LILRB2 | c.1647+416G>A | - | IntronicSNV | - | 13/13 |
11-61610750-G-T | FADS2 | c.618+2553G>T | - | IntronicSNV | - | 4/11 |
16-89952846-T-A | TCF25 | c.548+472T>A | - | IntronicSNV | - | 4/17 |
1-44756747-T-C | ERI3 | c.759-6168A>G | - | IntronicSNV | - | 6/8 |
6-5722910-C-G | FARS2 | c.1218-48614C>G | - | IntronicSNV | - | 6/6 |
11-61618012-C-T | FADS2 | c.744+2256C>T | - | IntronicSNV | - | 5/11 |
8-124531898-A-G | FBXO32 | c.372+12240T>C | - | IntronicSNV | - | 4/6 |
11-61600342-A-C | FADS2 | c.207+4273A>C | - | IntronicSNV | - | 1/11 |
1-159171603-C-T | CADM3 | c.*891C>T | - | 3-UTRSNV | 10/10 | - |
7-92273578-C-T | CDK6 | c.648-21178G>A | - | IntronicSNV | - | 5/7 |
5-153151522-G-C | GRIA1 | c.2270+1547G>C | - | IntronicSNV | - | 13/15 |
11-61552680-G-T | MYRF | c.3181-592G>T | - | IntronicSNV | - | 24/25 |
4-170944698-C-T | MFAP3L | c.-134+2687G>A | - | intron_variant | - | 1/2 |
11-120164246-A-T | POU2F3 | c.139-4728A>T | - | IntronicSNV | - | 3/12 |
1-112413022-T-C | KCND3 | c.1107-83294A>G | - | IntronicSNV | - | 2/6 |
3-182760073-T-G | MCCC1 | c.1084-535A>C | - | IntronicSNV | - | 10/18 |
1-155247707-G-T | HCN3 | c.278+48G>T | - | IntronicSNV | - | 1/7 |
4-143481329-C-T | INPP4B | c.-289-92121G>A | - | intron_variant | - | 2/26 |
1-23206684-A-G | EPHB2 | c.1304-2168A>G | - | IntronicSNV | - | 5/15 |
10-88849769-C-T | GLUD1 | c.445+4313G>A | - | IntronicSNV | - | 1/12 |
2-216268902-C-T | FN1 | c.3253+210G>A | - | IntronicSNV | - | 20/43 |
2-63365468-T-C | WDPCP | c.2190+14581A>G | - | IntronicSNV | - | 17/17 |
12-66548252-C-T | TMBIM4 | c.98-1024G>A | - | IntronicSNV | - | 1/6 |
4-2746481-C-T | TNIP2 | c.849G>A | p.Ala283Ala | Synonymous | 4/6 | - |
4-2746481-C-A | TNIP2 | c.849G>T | p.Ala283Ala | Synonymous | 4/6 | - |
1-15379018-A-G | KAZN | c.445-3569A>G | - | IntronicSNV | - | 4/7 |
10-97391983-T-G | ALDH18A1 | c.808+733A>C | - | IntronicSNV | - | 7/17 |
6-135368331-G-A | HBS1L | c.109+3389C>T | - | IntronicSNV | - | 2/16 |
16-31048079-C-T | STX4 | c.379-1168C>T | - | IntronicSNV | - | 5/10 |
14-24047669-A-C | JPH4 | c.-578T>G | - | 5_prime_UTR_variant | 1/7 | - |
1-236584485-G-A | EDARADD | c.161-6207G>A | - | IntronicSNV | - | 3/5 |
1-8527520-C-T | RERE | c.1105-1437G>A | - | IntronicSNV | - | 10/22 |
10-79272851-C-T | KCNMA1 | c.379-109070G>A | - | IntronicSNV | - | 1/26 |
2-242113166-C-T | PPP1R7 | c.906+3884C>T | - | IntronicSNV | - | 9/9 |
2-43018458-C-T | HAAO | c.80+1139G>A | - | IntronicSNV | - | 1/9 |
2-43018458-C-G | HAAO | c.80+1139G>C | - | IntronicSNV | - | 1/9 |
2-43018458-C-A | HAAO | c.80+1139G>T | - | IntronicSNV | - | 1/9 |
5-118858701-A-G | HSD17B4 | c.1504-2210A>G | - | IntronicSNV | - | 17/23 |
11-61524119-G-A | MYRF | c.19+1205G>A | - | IntronicSNV | - | 1/25 |
6-31496778-C-G | MCCD1 | c.1-14C>G | - | 5-UTRSNV | 1/2 | - |
4-25026195-G-A | LGI2 | c.413+247C>T | - | IntronicSNV | - | 4/7 |
1-20677197-G-A | VWA5B1 | c.2954-153G>A | - | IntronicSNV | - | 19/21 |
7-20405265-G-A | ITGB8 | c.214-1370G>A | - | IntronicSNV | - | 2/13 |
1-20677197-G-C | VWA5B1 | c.2954-153G>C | - | IntronicSNV | - | 19/21 |
16-89721655-C-T | CHMP1A | c.8-1324G>A | - | IntronicSNV | - | 1/6 |
16-89953066-G-A | TCF25 | c.548+692G>A | - | IntronicSNV | - | 4/17 |
13-99403611-G-A | SLC15A1 | c.4+1238C>T | - | IntronicSNV | - | 1/22 |
3-108167506-A-G | MYH15 | c.2460-3764T>C | - | IntronicSNV | - | 22/41 |
1-79093818-A-G | IFI44L | c.218A>G | p.His73Arg | Missense | 2/9 | - |
16-89972345-T-C | TCF25 | c.1629-257T>C | - | IntronicSNV | - | 14/17 |
4-72363545-A-G | SLC4A4 | c.2034+136A>G | - | IntronicSNV | - | 13/22 |
4-57109453-A-G | KIAA1211 | c.-188-29034A>G | - | intron_variant | - | 2/10 |
15-23062855-G-A | NIPA1 | c.179-536C>T | - | IntronicSNV | - | 1/4 |
7-105613007-C-T | CDHR3 | c.47-2283C>T | - | IntronicSNV | - | 1/18 |
20-62098483-C-G | KCNQ2 | c.296+5038G>C | - | IntronicSNV | - | 1/7 |
8-144895553-G-A | SCRIB | c.504-9C>T | - | IntronicSNV | - | 5/35 |
4-142005573-C-A | RNF150 | c.484+47906G>T | - | IntronicSNV | - | 1/6 |
4-101986763-C-G | PPP3CA | c.956-2249G>C | - | IntronicSNV | - | 8/13 |
16-31121793-G-A | BCKDK | c.615G>A | p.Thr205Thr | Synonymous | 7/12 | - |
13-41146301-T-C | FOXO1 | c.631-11304A>G | - | IntronicSNV | - | 1/2 |
6-135314070-G-A | HBS1L | c.957+826C>T | - | IntronicSNV | - | 7/16 |
16-89949000-G-C | TCF25 | c.193-759G>C | - | IntronicSNV | - | 1/17 |
6-135529211-T-A | MYB | c.1797+4749T>A | - | IntronicSNV | - | 14/14 |
11-61524974-G-T | MYRF | c.19+2060G>T | - | IntronicSNV | - | 1/25 |
1-151497376-G-A | CGN | c.1614+14G>A | - | IntronicSNV | - | 8/20 |
10-108863370-A-T | SORCS1 | c.558+60357T>A | - | IntronicSNV | - | 1/25 |
9-95491899-G-A | BICD2 | c.241-381C>T | - | IntronicSNV | - | 1/7 |
11-44917149-G-A | TSPAN18 | c.1-10819G>A | - | IntronicSNV | - | 1/9 |
20-62856778-C-G | MYT1 | c.2529-1990C>G | - | IntronicSNV | - | 16/22 |
20-62856778-C-A | MYT1 | c.2529-1990C>A | - | IntronicSNV | - | 16/22 |
21-44158451-G-T | PDE9A | c.388+4915G>T | - | IntronicSNV | - | 6/18 |
7-27976563-G-A | JAZF1 | c.189-41528C>T | - | IntronicSNV | - | 2/4 |
17-78003929-G-A | TBC1D16 | c.-63+5665C>T | - | intron_variant | - | 1/11 |
2-216204210-C-A | ATIC | c.1227+580C>A | - | IntronicSNV | - | 12/15 |
6-24353515-C-A | DCDC2 | c.348+282G>T | - | IntronicSNV | - | 2/9 |
6-24353515-C-T | DCDC2 | c.348+282G>A | - | IntronicSNV | - | 2/9 |
1-169116017-T-C | NME7 | c.1099-13962A>G | - | IntronicSNV | - | 11/11 |
16-89987201-A-G | MC1R | c.*581A>G | - | 3-UTRSNV | 1/1 | - |
22-43697531-C-A | SCUBE1 | c.350-10345G>T | - | IntronicSNV | - | 3/21 |
11-61524974-G-A | MYRF | c.19+2060G>A | - | IntronicSNV | - | 1/25 |
8-122634104-C-A | HAS2 | c.628-4658G>T | - | IntronicSNV | - | 2/3 |
8-122634104-C-T | HAS2 | c.628-4658G>A | - | IntronicSNV | - | 2/3 |
X-39938225-G-C | BCOR | c.1-1043C>G | - | IntronicSNV | - | 1/14 |
5-115494343-A-G | COMMD10 | c.510+24468A>G | - | IntronicSNV | - | 5/6 |
11-47093465-C-T | C11orf49 | c.280+19396C>T | - | IntronicSNV | - | 3/8 |
11-47093465-C-G | C11orf49 | c.280+19396C>G | - | IntronicSNV | - | 3/8 |
10-13711380-T-C | FRMD4A | c.1374+1026A>G | - | IntronicSNV | - | 17/24 |
11-47093465-C-A | C11orf49 | c.280+19396C>A | - | IntronicSNV | - | 3/8 |
2-216276856-A-T | FN1 | c.1942-2019T>A | - | IntronicSNV | - | 13/43 |
12-32478375-A-G | BICD1 | c.1006-2020A>G | - | IntronicSNV | - | 4/9 |
11-47093084-T-C | C11orf49 | c.280+19015T>C | - | IntronicSNV | - | 3/8 |
20-62328742-C-T | TNFRSF6B | c.486C>T | p.Ser162Ser | Synonymous | 2/3 | - |
3-196482921-G-A | PAK2 | c.-22+15893G>A | - | intron_variant | - | 1/14 |
9-116741439-A-T | ZNF618 | c.78-9162A>T | - | IntronicSNV | - | 2/13 |
3-41490207-G-A | ULK4 | c.3492+6781C>T | - | IntronicSNV | - | 34/36 |
3-122056863-T-C | CSTA | c.168+368T>C | - | IntronicSNV | - | 2/2 |
4-38906717-A-G | FAM114A1 | c.437-426A>G | - | IntronicSNV | - | 4/14 |
4-100056998-A-G | ADH4 | c.582+619T>C | - | IntronicSNV | - | 5/8 |
18-43422036-G-A | SIGLEC15 | c.906-35G>A | - | IntronicSNV | - | 5/5 |
20-20229681-A-G | CFAP61 | c.2160-2558A>G | - | IntronicSNV | - | 19/26 |
1-206899052-A-G | MAPKAPK2 | c.280-3003A>G | - | IntronicSNV | - | 1/9 |
1-169490772-G-A | F5 | c.6049-870C>T | - | IntronicSNV | - | 21/24 |
11-45917703-C-T | MAPK8IP1 | c.102-1933C>T | - | IntronicSNV | - | 1/11 |
2-56111309-C-T | EFEMP1 | c.518-2440G>A | - | IntronicSNV | - | 5/11 |
16-89959805-G-C | TCF25 | c.698-331G>C | - | IntronicSNV | - | 6/17 |
7-6169741-G-C | USP42 | c.443-5731G>C | - | IntronicSNV | - | 3/17 |
9-26975149-G-T | IFT74 | c.121-2977G>T | - | IntronicSNV | - | 2/19 |
2-23732893-C-T | KLHL29 | c.-46+34356C>T | - | intron_variant | - | 2/13 |
16-89972532-A-C | TCF25 | c.1629-70A>C | - | IntronicSNV | - | 14/17 |
16-89972532-A-T | TCF25 | c.1629-70A>T | - | IntronicSNV | - | 14/17 |
6-135255901-A-G | ALDH8A1 | c.443-1731T>C | - | IntronicSNV | - | 3/5 |
6-152533460-T-C | SYNE1 | c.22495-737A>G | - | IntronicSNV | - | 123/145 |
6-135295001-G-A | HBS1L | c.1672-4525C>T | - | IntronicSNV | - | 14/16 |
7-137338204-C-T | DGKI | c.738+1274G>A | - | IntronicSNV | - | 5/33 |
16-89731073-A-C | SPATA33 | c.209-4621A>C | - | IntronicSNV | - | 2/2 |
10-72451777-A-G | ADAMTS14 | c.523-10291A>G | - | IntronicSNV | - | 2/21 |
12-72868799-G-A | TRHDE | c.1449+1839G>A | - | IntronicSNV | - | 5/18 |
9-26975149-G-A | IFT74 | c.121-2977G>A | - | IntronicSNV | - | 2/19 |
9-26975149-G-C | IFT74 | c.121-2977G>C | - | IntronicSNV | - | 2/19 |
5-145838075-A-G | TCERG1 | c.439-372A>G | - | IntronicSNV | - | 3/20 |
16-89896331-C-A | SPIRE2 | c.244+1129C>A | - | IntronicSNV | - | 1/14 |
16-89969254-C-T | TCF25 | c.1382-1272C>T | - | IntronicSNV | - | 12/17 |
13-30106466-T-G | SLC7A1 | c.529+495A>C | - | IntronicSNV | - | 4/12 |
16-89959805-G-A | TCF25 | c.698-331G>A | - | IntronicSNV | - | 6/17 |
16-89956247-C-A | TCF25 | c.614+2122C>A | - | IntronicSNV | - | 5/17 |
16-89956247-C-T | TCF25 | c.614+2122C>T | - | IntronicSNV | - | 5/17 |
16-31334236-C-A | ITGAM | c.2002+1288C>A | - | IntronicSNV | - | 16/29 |
2-37152138-G-C | STRN | c.338+110C>G | - | IntronicSNV | - | 2/17 |
9-36386083-G-C | RNF38 | c.162+4381C>G | - | IntronicSNV | - | 2/11 |
5-58333771-T-G | PDE4D | c.921+915A>C | - | IntronicSNV | - | 6/14 |
11-46923168-C-A | LRP4 | c.199+1166G>T | - | IntronicSNV | - | 2/37 |
16-73045615-A-C | ZFHX3 | c.-50+36036T>G | - | intron_variant | - | 1/9 |
3-182762437-G-A | MCCC1 | c.1083+764C>T | - | IntronicSNV | - | 10/18 |
6-135307485-T-G | HBS1L | c.1180-164A>C | - | IntronicSNV | - | 9/16 |
15-72283291-C-A | MYO9A | c.1722+153G>T | - | IntronicSNV | - | 11/41 |
6-169968993-G-A | WDR27 | c.2645+3522C>T | - | IntronicSNV | - | 25/25 |
12-111887659-A-G | SH2B3 | c.*1553A>G | - | 3-UTRSNV | 8/8 | - |
12-42597168-T-C | YAF2 | c.26+34789A>G | - | IntronicSNV | - | 1/2 |
1-169100095-C-A | ATP1B1 | c.649-435C>A | - | IntronicSNV | - | 5/5 |
7-40466200-C-T | SUGCT | c.727-22686C>T | - | IntronicSNV | - | 9/14 |
1-169100095-C-T | ATP1B1 | c.649-435C>T | - | IntronicSNV | - | 5/5 |
16-89764982-G-C | SPATA2L | c.304-269C>G | - | IntronicSNV | - | 2/2 |
16-89764982-G-A | SPATA2L | c.304-269C>T | - | IntronicSNV | - | 2/2 |
12-932357-C-T | WNK1 | c.933-3851C>T | - | IntronicSNV | - | 2/27 |
1-234382599-T-C | SLC35F3 | c.608+15112T>C | - | IntronicSNV | - | 3/7 |
10-55694073-C-T | PCDH15 | c.3373+4502G>A | - | IntronicSNV | - | 25/32 |
14-34187477-A-T | NPAS3 | c.734-16943A>T | - | IntronicSNV | - | 6/11 |
14-34187477-A-G | NPAS3 | c.734-16943A>G | - | IntronicSNV | - | 6/11 |
1-230311849-G-A | GALNT2 | c.127-2115G>A | - | IntronicSNV | - | 1/15 |
4-72223753-C-T | SLC4A4 | c.598+849C>T | - | IntronicSNV | - | 3/22 |
1-94516474-C-T | ABCA4 | c.2653+715G>A | - | IntronicSNV | - | 17/49 |
9-125897900-T-C | STRBP | c.1731+420A>G | - | IntronicSNV | - | 16/18 |
5-7560568-A-C | ADCY2 | c.570+39556A>C | - | IntronicSNV | - | 3/24 |
10-49705989-G-A | ARHGAP22 | c.323-18182C>T | - | IntronicSNV | - | 3/9 |
4-47619803-G-A | CORIN | c.2228+5785C>T | - | IntronicSNV | - | 17/19 |
11-120169962-T-C | POU2F3 | c.265-371T>C | - | IntronicSNV | - | 4/12 |
3-36965123-A-C | TRANK1 | c.24-20357T>G | - | IntronicSNV | - | 1/22 |
3-36965123-A-G | TRANK1 | c.24-20357T>C | - | IntronicSNV | - | 1/22 |
16-89933306-C-T | SPIRE2 | c.1779-1291C>T | - | IntronicSNV | - | 12/14 |
7-40000089-C-T | CDK13 | c.1211+8638C>T | - | IntronicSNV | - | 1/13 |
10-17421418-G-C | ST8SIA6 | c.290+11112C>G | - | IntronicSNV | - | 3/7 |
16-89907493-G-T | SPIRE2 | c.245-4237G>T | - | IntronicSNV | - | 1/14 |
12-131586886-G-A | ADGRD1 | c.1672-2490G>A | - | IntronicSNV | - | 15/24 |
10-50949335-C-T | OGDHL | c.2013-452G>A | - | IntronicSNV | - | 15/22 |
6-135286230-T-C | HBS1L | c.*187A>G | - | 3-UTRSNV | 17/17 | - |
6-135286230-T-G | HBS1L | c.*187A>C | - | 3-UTRSNV | 17/17 | - |
16-89930414-G-A | SPIRE2 | c.1778+145G>A | - | IntronicSNV | - | 12/14 |
10-50949335-C-G | OGDHL | c.2013-452G>C | - | IntronicSNV | - | 15/22 |
5-169278628-T-G | DOCK2 | c.2799+10772T>G | - | IntronicSNV | - | 27/51 |
1-66092570-A-G | LEPR | c.2673+3906A>G | - | IntronicSNV | - | 19/19 |
1-66092570-A-T | LEPR | c.2673+3906A>T | - | IntronicSNV | - | 19/19 |
8-39850652-C-G | IDO2 | c.706+3295C>G | - | IntronicSNV | - | 8/10 |
16-89946682-A-G | TCF25 | c.193-3077A>G | - | IntronicSNV | - | 1/17 |
11-61601908-A-G | FADS2 | c.208-3342A>G | - | IntronicSNV | - | 1/11 |
2-204585956-T-A | CD28 | c.53-5400T>A | - | IntronicSNV | - | 1/3 |
6-123849701-C-A | TRDN | c.484+1950G>T | - | IntronicSNV | - | 5/20 |
7-20407022-A-T | ITGB8 | c.388+213A>T | - | IntronicSNV | - | 3/13 |
9-14241650-A-C | NFIB | c.563-61871T>G | - | IntronicSNV | - | 2/8 |
20-31009293-A-G | ASXL1 | c.253-6638A>G | - | IntronicSNV | - | 4/12 |
10-17423407-T-C | ST8SIA6 | c.290+9123A>G | - | IntronicSNV | - | 3/7 |
16-89961593-A-G | TCF25 | c.928+48A>G | - | IntronicSNV | - | 8/17 |
16-89961593-A-C | TCF25 | c.928+48A>C | - | IntronicSNV | - | 8/17 |
10-98026522-C-T | BLNK | c.47+4587G>A | - | IntronicSNV | - | 1/16 |
1-204800005-A-G | NFASC | c.-200+2095A>G | - | intron_variant | - | 1/29 |
1-204800005-A-T | NFASC | c.-200+2095A>T | - | intron_variant | - | 1/29 |
11-61581764-T-C | FADS1 | c.376-939A>G | - | IntronicSNV | - | 1/11 |
22-34291465-G-T | LARGE1 | c.-83+24518C>A | - | intron_variant | - | 1/14 |
10-1405164-G-A | ADARB2 | c.1077+59C>T | - | IntronicSNV | - | 3/9 |
11-61606642-A-G | FADS2 | c.319-1164A>G | - | IntronicSNV | - | 2/11 |
11-61606642-A-C | FADS2 | c.319-1164A>C | - | IntronicSNV | - | 2/11 |
22-39266451-C-A | CBX6 | c.246+1034G>T | - | IntronicSNV | - | 4/4 |
16-31140799-G-T | KAT8 | c.772-539G>T | - | IntronicSNV | - | 6/10 |
2-71693215-T-G | DYSF | c.88+11999T>G | - | IntronicSNV | - | 1/54 |
3-196445776-C-T | PIGX | c.176+1984C>T | - | IntronicSNV | - | 2/5 |
6-135373534-G-A | HBS1L | c.44-1749C>T | - | IntronicSNV | - | 1/16 |
4-72359949-C-G | SLC4A4 | c.1843-3269C>G | - | IntronicSNV | - | 12/22 |
4-72359949-C-T | SLC4A4 | c.1843-3269C>T | - | IntronicSNV | - | 12/22 |
9-4848297-A-G | RCL1 | c.868-1150A>G | - | IntronicSNV | - | 7/8 |
19-5742326-T-G | CATSPERD | c.574-2112T>G | - | IntronicSNV | - | 7/21 |
19-5742326-T-C | CATSPERD | c.574-2112T>C | - | IntronicSNV | - | 7/21 |
3-132357667-C-G | ACAD11 | c.702+669G>C | - | IntronicSNV | - | 5/19 |
3-193086120-G-A | ATP13A5 | c.64-4051C>T | - | IntronicSNV | - | 1/29 |
20-30948975-C-G | ASXL1 | c.57+2340C>G | - | IntronicSNV | - | 1/12 |
20-30948975-C-T | ASXL1 | c.57+2340C>T | - | IntronicSNV | - | 1/12 |
2-23726719-A-C | KLHL29 | c.-46+28182A>C | - | intron_variant | - | 2/13 |
1-8759554-T-C | RERE | c.1-43198A>G | - | IntronicSNV | - | 1/22 |
20-40829099-G-A | PTPRT | c.2343-1071C>T | - | IntronicSNV | - | 15/30 |
7-6203848-G-C | CYTH3 | c.*727C>G | - | 3-UTRSNV | 13/13 | - |
7-28183702-T-C | JAZF1 | c.115+36380A>G | - | IntronicSNV | - | 1/4 |
4-68777054-C-T | TMPRSS11A | c.*6G>A | - | 3-UTRSNV | 10/10 | - |
9-26975132-G-A | IFT74 | c.121-2994G>A | - | IntronicSNV | - | 2/19 |
1-205538918-C-A | MFSD4A | c.230+491C>A | - | IntronicSNV | - | 1/9 |
2-175062847-C-T | OLA1 | c.373+24914G>A | - | IntronicSNV | - | 4/10 |
11-61623793-G-A | FADS2 | c.745-690G>A | - | IntronicSNV | - | 5/11 |
19-54784504-C-A | LILRB2 | c.1-153G>T | - | IntronicSNV | 1/14 | - |
1-160145586-G-T | ATP1A4 | c.2312-296G>T | - | IntronicSNV | - | 15/21 |
17-72271247-G-A | DNAI2 | c.-12+763G>A | - | intron_variant | - | 1/13 |
1-114447034-G-C | AP4B1 | c.113+193C>G | - | IntronicSNV | - | 2/10 |
1-245692111-G-A | KIF26B | c.1167-11958G>A | - | IntronicSNV | - | 4/14 |
2-56096892-A-G | EFEMP1 | c.1320+963T>C | - | IntronicSNV | - | 11/11 |
10-50949416-T-A | OGDHL | c.2013-533A>T | - | IntronicSNV | - | 15/22 |
16-89941153-T-C | TCF25 | c.192+886T>C | - | IntronicSNV | - | 1/17 |
2-1719439-G-A | PXDN | c.201-22533C>T | - | IntronicSNV | - | 1/22 |
11-61610750-G-A | FADS2 | c.618+2553G>A | - | IntronicSNV | - | 4/11 |
11-61579463-A-G | FADS1 | c.684+480T>C | - | IntronicSNV | - | 3/11 |
11-61596633-C-T | FADS2 | c.207+564C>T | - | IntronicSNV | - | 1/11 |
1-232056301-A-G | DISC1 | c.1982-38273A>G | - | IntronicSNV | - | 9/12 |
12-112288602-C-G | MAPKAPK5 | c.36+8029C>G | - | IntronicSNV | - | 1/13 |
11-44880701-C-T | TSPAN18 | c.1-47267C>T | - | IntronicSNV | - | 2/9 |
21-45711592-C-A | AIRE | c.995+499C>A | - | IntronicSNV | - | 8/13 |
16-89963289-C-A | TCF25 | c.1022+798C>A | - | IntronicSNV | - | 9/17 |
2-170201858-C-T | LRP2 | c.79+16973G>A | - | IntronicSNV | - | 1/78 |
16-89993206-A-C | TUBB3 | c.57+3340A>C | - | IntronicSNV | - | 1/3 |
11-62156608-C-T | ASRGL1 | c.495C>T | p.Asn165Asn | Synonymous | 5/7 | - |
6-32188853-C-T | NOTCH4 | c.701G>A | p.Arg234Gln | Missense | 4/30 | - |
16-89995088-G-A | TUBB3 | c.58-3891G>A | - | IntronicSNV | - | 1/3 |
9-116918394-A-G | COL27A1 | c.62+102A>G | - | IntronicSNV | - | 1/60 |
6-5722910-C-T | FARS2 | c.1218-48614C>T | - | IntronicSNV | - | 6/6 |
7-2862475-A-G | GNA12 | c.309+21012T>C | - | IntronicSNV | - | 1/3 |
4-175187746-C-T | FBXO8 | c.1-3503G>A | - | IntronicSNV | - | 1/5 |
11-20648020-G-A | SLC6A5 | c.1261-234G>A | - | IntronicSNV | - | 7/15 |
16-89969567-A-T | TCF25 | c.1382-959A>T | - | IntronicSNV | - | 12/17 |
2-56108333-C-T | EFEMP1 | c.640+414G>A | - | IntronicSNV | - | 6/11 |
2-108916044-A-G | SULT1C2 | c.372+927A>G | - | IntronicSNV | - | 4/8 |
11-61564299-G-T | FEN1 | c.*323G>T | - | 3-UTRSNV | 2/2 | - |
2-204198303-T-G | ABI2 | c.117+4949T>G | - | IntronicSNV | - | 1/9 |
22-43321816-G-A | PACSIN2 | c.1-13730C>T | - | IntronicSNV | - | 1/10 |
11-61564299-G-C | FEN1 | c.*323G>C | - | 3-UTRSNV | 2/2 | - |
16-89967217-T-C | TCF25 | c.1381+15T>C | - | IntronicSNV | - | 12/17 |
19-34685617-C-G | LSM14A | c.285+71C>G | - | IntronicSNV | - | 2/9 |
19-34685617-C-T | LSM14A | c.285+71C>T | - | IntronicSNV | - | 2/9 |
15-51055322-T-C | SPPL2A | c.66+2343A>G | - | IntronicSNV | - | 1/14 |
2-212708046-A-G | ERBB4 | c.422-55162T>C | - | IntronicSNV | - | 3/26 |
20-30876186-G-A | KIF3B | c.-66+10618G>A | - | intron_variant | - | 1/8 |
10-68224886-A-G | CTNNA3 | c.1531+55489T>C | - | IntronicSNV | - | 11/17 |
4-185577706-G-A | PRIMPOL | c.1-589G>A | - | IntronicSNV | - | 1/13 |
1-169331157-A-G | NME7 | c.3+5789T>C | - | IntronicSNV | - | 1/11 |
19-54784520-C-T | LILRB2 | c.1-169G>A | - | IntronicSNV | 1/14 | - |
9-4844214-T-C | RCL1 | c.711-311T>C | - | IntronicSNV | - | 6/8 |
2-71442773-G-A | PAIP2B | c.-12+11285C>T | - | intron_variant | - | 1/3 |
2-71442773-G-C | PAIP2B | c.-12+11285C>G | - | intron_variant | - | 1/3 |
4-37948648-C-T | TBC1D1 | c.417+44515C>T | - | IntronicSNV | - | 2/19 |
7-28189549-T-G | JAZF1 | c.115+30533A>C | - | IntronicSNV | - | 1/4 |
16-89681640-G-A | DPEP1 | c.-107+1828G>A | - | intron_variant | - | 1/10 |
8-19519764-T-C | CSGALNACT1 | c.-544+20220A>G | - | intron_variant | - | 1/9 |
11-61605215-A-G | FADS2 | c.208-35A>G | - | IntronicSNV | - | 1/11 |
18-33955666-A-C | FHOD3 | c.337+2959A>C | - | IntronicSNV | - | 3/24 |
3-195078662-A-C | ACAP2 | c.286-12616T>G | - | IntronicSNV | - | 4/22 |
8-124531898-A-T | FBXO32 | c.372+12240T>A | - | IntronicSNV | - | 4/6 |
13-66900644-G-A | PCDH9 | c.3341-21484C>T | - | IntronicSNV | - | 4/4 |
13-66900644-G-C | PCDH9 | c.3341-21484C>G | - | IntronicSNV | - | 4/4 |
19-34678130-A-G | LSM14A | c.122-7253A>G | - | IntronicSNV | - | 1/9 |
15-50800095-G-A | USP8 | c.*8810G>A | - | IntergenicSNV | 20/20 | - |
3-188479752-A-G | LPP | c.1410+1682A>G | - | IntronicSNV | - | 8/10 |
1-206890435-G-A | MAPKAPK2 | c.280-11620G>A | - | IntronicSNV | - | 1/9 |
7-76842468-C-A | CCDC146 | c.157-23796C>A | - | IntronicSNV | - | 2/18 |
5-118566878-G-A | DMXL1 | c.8276-2157G>A | - | IntronicSNV | - | 37/42 |
7-96330682-C-T | SEM1 | c.77-6479G>A | - | IntronicSNV | - | 1/2 |
8-106389304-T-C | ZFPM2 | c.41-42068T>C | - | IntronicSNV | - | 1/7 |
2-29129682-T-G | WDR43 | c.485+235T>G | - | IntronicSNV | - | 3/17 |
4-159857539-A-G | C4orf45 | c.357-21028T>C | - | IntronicSNV | - | 3/4 |
16-31088347-G-A | ZNF646 | c.702G>A | p.Glu234Glu | Synonymous | 2/3 | - |
1-66089782-C-T | LEPR | c.2673+1118C>T | - | IntronicSNV | - | 19/19 |
4-57093789-C-T | KIAA1211 | c.-188-44698C>T | - | intron_variant | - | 2/10 |
9-116741439-A-C | ZNF618 | c.78-9162A>C | - | IntronicSNV | - | 2/13 |
16-89896932-T-C | SPIRE2 | c.244+1730T>C | - | IntronicSNV | - | 1/14 |
4-72362179-G-A | SLC4A4 | c.1843-1039G>A | - | IntronicSNV | - | 12/22 |
16-89991963-C-T | TUBB3 | c.57+2097C>T | - | IntronicSNV | - | 1/3 |
11-61601378-C-T | FADS2 | c.208-3872C>T | - | IntronicSNV | - | 1/11 |
9-86314564-T-C | UBQLN1 | c.180+7851A>G | - | IntronicSNV | - | 1/10 |
16-89965988-T-G | TCF25 | c.1221+708T>G | - | IntronicSNV | - | 11/17 |
1-113936988-G-A | MAGI3 | c.316+3017G>A | - | IntronicSNV | - | 1/20 |
15-52567523-T-A | MYO5C | c.606+236A>T | - | IntronicSNV | - | 5/40 |
11-62148896-T-C | ASRGL1 | c.492-7709T>C | - | IntronicSNV | - | 4/6 |
12-27497449-G-A | ARNTL2 | c.31+11413G>A | - | IntronicSNV | - | 1/16 |
1-240525026-A-G | FMN2 | c.4858+5818A>G | - | IntronicSNV | - | 14/17 |
3-195258909-G-A | PPP1R2 | c.123-2207C>T | - | IntronicSNV | - | 1/5 |
2-64339277-T-C | PELI1 | c.1-3833A>G | - | IntronicSNV | - | 1/6 |
2-64339277-T-A | PELI1 | c.1-3833A>T | - | IntronicSNV | - | 1/6 |
9-5231712-T-G | INSL4 | c.189T>G | p.Arg63Arg | Synonymous | 1/2 | - |
6-135356469-T-C | HBS1L | c.304+4242A>G | - | IntronicSNV | - | 3/16 |
9-4844778-A-C | RCL1 | c.867+97A>C | - | IntronicSNV | - | 7/8 |
22-20930991-T-G | MED15 | c.1153-5907T>G | - | IntronicSNV | - | 8/16 |
11-61549458-A-G | MYRF | c.2911+162A>G | - | IntronicSNV | - | 21/25 |
6-135322329-A-C | HBS1L | c.413+1543T>G | - | IntronicSNV | - | 4/16 |
10-79247942-C-T | KCNMA1 | c.379-84161G>A | - | IntronicSNV | - | 1/26 |
16-89958118-G-A | TCF25 | c.615-483G>A | - | IntronicSNV | - | 5/17 |
3-154814589-C-T | MME | c.196+11706C>T | - | IntronicSNV | - | 3/22 |
16-90024228-C-T | DEF8 | c.555+160C>T | - | IntronicSNV | - | 5/12 |
11-36639684-G-T | C11orf74 | c.136+7895G>T | - | IntronicSNV | - | 2/5 |
8-144775284-G-T | ZNF707 | c.257-557G>T | - | IntronicSNV | - | 6/6 |
6-145002650-G-A | UTRN | c.7652+2936G>A | - | IntronicSNV | - | 51/73 |
10-78899404-C-T | KCNMA1 | c.809-18598G>A | - | IntronicSNV | - | 5/26 |
3-195248351-T-A | PPP1R2 | c.403+2139A>T | - | IntronicSNV | - | 4/5 |
15-44428962-A-G | FRMD5 | c.102+58189T>C | - | IntronicSNV | - | 1/13 |
16-89965988-T-A | TCF25 | c.1221+708T>A | - | IntronicSNV | - | 11/17 |
6-31635267-A-G | CSNK2B | c.73-378A>G | - | IntronicSNV | - | 2/6 |
22-42025057-A-G | XRCC6 | c.195+823A>G | - | IntronicSNV | - | 3/12 |
1-114064898-T-G | MAGI3 | c.317-27239T>G | - | IntronicSNV | - | 1/20 |
11-44751545-A-G | TSPAN18 | c.-240+2708A>G | - | intron_variant | - | 1/9 |
6-25965552-A-G | TRIM38 | c.1-1199A>G | - | IntronicSNV | - | 2/7 |
7-5769489-T-C | RNF216 | c.1225-262A>G | - | IntronicSNV | - | 6/16 |
6-148690490-A-T | SASH1 | c.157-20780A>T | - | IntronicSNV | - | 1/19 |
2-74781577-T-C | DOK1 | c.1-305T>C | - | 5-UTRSNV | 1/5 | - |
2-74781577-T-G | DOK1 | c.1-305T>G | - | 5-UTRSNV | 1/5 | - |
6-33039507-A-G | HLA-DPA1 | c.100+1741T>C | - | IntronicSNV | - | 1/4 |
7-128938239-G-A | AHCYL2 | c.363+72959G>A | - | IntronicSNV | - | 1/16 |
1-12167392-T-C | TNFRSF8 | c.422-2231T>C | - | IntronicSNV | - | 4/14 |
16-90024447-T-C | DEF8 | c.555+379T>C | - | IntronicSNV | - | 5/12 |
11-61601872-C-G | FADS2 | c.208-3378C>G | - | IntronicSNV | - | 1/11 |
11-61601872-C-T | FADS2 | c.208-3378C>T | - | IntronicSNV | - | 1/11 |
3-107925396-G-A | IFT57 | c.654+79C>T | - | IntronicSNV | - | 5/10 |
3-132055396-A-C | ACPP | c.457-904A>C | - | IntronicSNV | - | 4/9 |
9-5233054-T-C | INSL4 | c.197-600T>C | - | IntronicSNV | - | 1/1 |
7-44186307-A-G | GCK | c.864-90T>C | - | IntronicSNV | - | 7/9 |
6-170621879-T-C | FAM120B | c.1-4600T>C | - | IntronicSNV | - | 1/10 |
7-39379431-G-T | POU6F2 | c.702G>T | p.Gln234His | Missense | 6/11 | - |
3-30683034-C-G | TGFBR2 | c.170-3205C>G | - | IntronicSNV | - | 2/7 |
8-11587234-G-T | GATA4 | c.617-19194G>T | - | IntronicSNV | - | 2/6 |
12-21654198-G-A | RECQL | c.-140C>T | - | 5_prime_UTR_variant | 1/15 | - |
12-21654198-G-C | RECQL | c.-140C>G | - | 5_prime_UTR_variant | 1/15 | - |
11-2705343-A-G | KCNQ1 | c.1514+22032A>G | - | IntronicSNV | - | 11/15 |
11-46055904-C-T | PHF21A | c.153+42401G>A | - | IntronicSNV | - | 5/17 |
11-46055904-C-G | PHF21A | c.153+42401G>C | - | IntronicSNV | - | 5/17 |
1-234244766-G-A | SLC35F3 | c.284-122397G>A | - | IntronicSNV | - | 2/7 |
2-216277672-C-T | FN1 | c.1941+1888G>A | - | IntronicSNV | - | 13/43 |
20-61980592-G-A | CHRNA4 | c.1758+413C>T | - | IntronicSNV | - | 5/5 |
3-123359717-T-C | MYLK | c.4620-366A>G | - | IntronicSNV | - | 27/33 |
2-56142098-G-A | EFEMP1 | c.517+2702C>T | - | IntronicSNV | - | 5/11 |
13-23873095-G-A | SGCG | c.578+3469G>A | - | IntronicSNV | - | 6/7 |
16-89975496-G-A | TCF25 | c.1800-1503G>A | - | IntronicSNV | - | 16/17 |
9-125789751-G-T | RABGAP1 | c.1794+7013G>T | - | IntronicSNV | - | 13/25 |
3-195804763-C-T | TFRC | c.1-793G>A | - | IntronicSNV | - | 1/18 |
6-101312900-G-T | ASCC3 | c.91-810C>A | - | IntronicSNV | - | 2/41 |
7-6165595-C-T | USP42 | c.443-9877C>T | - | IntronicSNV | - | 3/17 |
4-57093788-C-G | KIAA1211 | c.-188-44699C>G | - | intron_variant | - | 2/10 |
4-57093788-C-A | KIAA1211 | c.-188-44699C>A | - | intron_variant | - | 2/10 |
18-21428036-C-G | LAMA3 | c.4136+404C>G | - | IntronicSNV | - | 32/74 |
18-21428036-C-T | LAMA3 | c.4136+404C>T | - | IntronicSNV | - | 32/74 |
20-61980592-G-T | CHRNA4 | c.1758+413C>A | - | IntronicSNV | - | 5/5 |
16-89974733-C-T | TCF25 | c.1799+1003C>T | - | IntronicSNV | - | 16/17 |
16-89898660-C-T | SPIRE2 | c.244+3458C>T | - | IntronicSNV | - | 1/14 |
10-32620896-G-C | EPC1 | c.153+14795C>G | - | IntronicSNV | - | 1/13 |
22-45189871-G-C | PRR5-ARHGAP8 | c.472+7385G>C | - | intron_variant | - | 5/14 |
6-150346211-T-C | RAET1L | c.85+312A>G | - | IntronicSNV | - | 1/4 |
6-170068606-G-A | WDR27 | c.457-325C>T | - | IntronicSNV | - | 4/25 |
16-89957169-T-G | TCF25 | c.615-1432T>G | - | IntronicSNV | - | 5/17 |
5-168639785-T-G | SLIT3 | c.342-19231A>C | - | IntronicSNV | - | 3/35 |
5-115477666-C-G | COMMD10 | c.510+7791C>G | - | IntronicSNV | - | 5/6 |
9-4852599-A-G | RCL1 | c.971+3049A>G | - | IntronicSNV | - | 8/8 |
11-61569306-C-G | FADS1 | c.*577G>C | - | 3-UTRSNV | 12/12 | - |
20-30873322-C-T | KIF3B | c.-66+7754C>T | - | intron_variant | - | 1/8 |
10-88659047-C-T | BMPR1A | c.334-504C>T | - | IntronicSNV | - | 5/12 |
15-66070693-C-A | DENND4A | c.-95+13655G>T | - | intron_variant | - | 1/31 |
15-66070693-C-T | DENND4A | c.-95+13655G>A | - | intron_variant | - | 1/31 |
10-47693227-T-C | ANTXRL | c.1411-7608T>C | - | IntronicSNV | - | 16/16 |
17-2771512-C-T | RAP1GAP2 | c.81-37066C>T | - | IntronicSNV | - | 2/23 |
10-95202684-G-A | MYOF | c.236+9123C>T | - | IntronicSNV | - | 3/53 |
12-125449785-C-T | DHX37 | c.1736-233G>A | - | IntronicSNV | - | 13/26 |
4-72371327-T-C | SLC4A4 | c.2034+7918T>C | - | IntronicSNV | - | 13/22 |
12-125449785-C-G | DHX37 | c.1736-233G>C | - | IntronicSNV | - | 13/26 |
6-135287413-A-T | HBS1L | c.1917+54T>A | - | IntronicSNV | - | 16/16 |
13-24872400-C-T | SPATA13 | c.1708+527C>T | - | IntronicSNV | - | 10/11 |
13-24876099-G-A | SPATA13 | c.1784-637G>A | - | IntronicSNV | - | 11/11 |
20-62098002-C-T | KCNQ2 | c.296+5519G>A | - | IntronicSNV | - | 1/7 |
2-28769854-G-C | PLB1 | c.970-1873G>C | - | IntronicSNV | - | 14/56 |
7-104738833-C-T | KMT2E | c.1723-3039C>T | - | IntronicSNV | - | 14/25 |
1-165667548-G-C | ALDH9A1 | c.181+67C>G | - | IntronicSNV | - | 1/10 |
14-94032195-A-G | UNC79 | c.1225-6045A>G | - | IntronicSNV | - | 14/49 |
14-94032195-A-T | UNC79 | c.1225-6045A>T | - | IntronicSNV | - | 14/49 |
2-25542648-T-C | DNMT3A | c.1-5795A>G | - | IntronicSNV | - | 1/22 |
6-20206244-C-G | MBOAT1 | c.99+6123G>C | - | IntronicSNV | - | 1/12 |
12-104954884-A-G | CHST11 | c.119-40800A>G | - | IntronicSNV | - | 1/2 |
2-161279882-C-G | RBMS1 | c.76-55980G>C | - | IntronicSNV | - | 1/13 |
1-204327442-A-G | PLEKHA6 | c.-95+1380T>C | - | intron_variant | - | 1/22 |
16-88770010-G-C | RNF166 | c.156-2184C>G | - | IntronicSNV | - | 1/5 |
4-72337959-C-T | SLC4A4 | c.1500-457C>T | - | IntronicSNV | - | 10/22 |
8-28361824-G-C | FZD3 | c.189+1105G>C | - | IntronicSNV | - | 2/6 |
6-134625695-G-A | SGK1 | c.69+12835C>T | - | IntronicSNV | - | 1/13 |
10-106139081-G-A | CFAP58 | c.1174-706G>A | - | IntronicSNV | - | 8/17 |
1-165667548-G-T | ALDH9A1 | c.181+67C>A | - | IntronicSNV | - | 1/10 |
19-7189674-A-T | INSR | c.653-5026T>A | - | IntronicSNV | - | 2/21 |
16-89960814-A-G | TCF25 | c.828+548A>G | - | IntronicSNV | - | 7/17 |
4-72282753-G-A | SLC4A4 | c.675+19383G>A | - | IntronicSNV | - | 4/22 |
3-97452650-C-T | EPHA6 | c.2935-2119C>T | - | IntronicSNV | - | 15/17 |
2-161279882-C-T | RBMS1 | c.76-55980G>A | - | IntronicSNV | - | 1/13 |
5-172750436-G-A | STC2 | c.295-3C>T | - | IntronicSNV | - | 2/3 |
18-44042805-C-A | RNF165 | c.*6206C>A | - | IntergenicSNV | 8/8 | - |
4-72337959-C-A | SLC4A4 | c.1500-457C>A | - | IntronicSNV | - | 10/22 |
4-6883012-C-T | KIAA0232 | c.*319C>T | - | 3-UTRSNV | 10/10 | - |
3-195982696-T-C | PCYT1A | c.217+1963A>G | - | IntronicSNV | - | 4/9 |
8-28361824-G-A | FZD3 | c.189+1105G>A | - | IntronicSNV | - | 2/6 |
6-135259371-G-A | ALDH8A1 | c.442+4176C>T | - | IntronicSNV | - | 3/5 |
3-114063836-A-C | ZBTB20 | c.1585+5285T>G | - | IntronicSNV | - | 9/9 |
3-195611294-A-G | TNK2 | c.456+389T>C | - | IntronicSNV | - | 4/14 |
15-31901313-A-G | OTUD7A | c.152-38913T>C | - | IntronicSNV | - | 4/13 |
16-89909737-C-T | SPIRE2 | c.245-1993C>T | - | IntronicSNV | - | 1/14 |
2-74909765-T-C | SEMA4F | c.*2429T>C | - | 3-UTRSNV | 14/14 | - |
4-99574380-A-C | TSPAN5 | c.81+4917T>G | - | IntronicSNV | - | 1/7 |
6-33039899-G-T | HLA-DPA1 | c.100+1349C>A | - | IntronicSNV | - | 1/4 |
11-61579760-T-C | FADS1 | c.684+183A>G | - | IntronicSNV | - | 3/11 |
12-27621637-G-A | SMCO2 | c.-11+1729G>A | - | intron_variant | - | 1/8 |
16-89992238-C-G | TUBB3 | c.57+2372C>G | - | IntronicSNV | - | 1/3 |
1-11735245-A-T | MAD2L2 | c.502-14T>A | - | IntronicSNV | - | 7/8 |
1-11735245-A-C | MAD2L2 | c.502-14T>G | - | IntronicSNV | - | 7/8 |
3-195981860-T-A | PCYT1A | c.217+2799A>T | - | IntronicSNV | - | 4/9 |
11-100900978-C-T | PGR | c.*8869G>A | - | 3-UTRSNV | 8/8 | - |
1-109839896-C-T | MYBPHL | c.431-85G>A | - | IntronicSNV | - | 3/8 |
3-7730014-G-A | GRM7 | c.2698+8032G>A | - | IntronicSNV | - | 9/9 |
12-109609528-T-C | ACACB | c.926-82T>C | - | IntronicSNV | - | 4/52 |
16-89958127-T-C | TCF25 | c.615-474T>C | - | IntronicSNV | - | 5/17 |
3-132053754-A-T | ACPP | c.457-2546A>T | - | IntronicSNV | - | 4/9 |
12-120763440-C-A | PLA2G1B | c.194+224G>T | - | IntronicSNV | - | 2/3 |
6-97050263-A-G | FHL5 | c.1-1227A>G | - | IntronicSNV | - | 2/6 |
6-145002659-A-G | UTRN | c.7652+2945A>G | - | IntronicSNV | - | 51/73 |
20-62128735-T-C | EEF1A2 | c.144+238A>G | - | IntronicSNV | - | 2/7 |
2-100938917-G-A | LONRF2 | c.1-362C>T | - | 5-UTRSNV | 1/12 | - |
2-100938917-G-C | LONRF2 | c.1-362C>G | - | 5-UTRSNV | 1/12 | - |
3-71726270-T-G | EIF4E3 | c.*7563A>C | - | IntergenicSNV | 8/8 | - |
1-234244890-T-C | SLC35F3 | c.284-122273T>C | - | IntronicSNV | - | 2/7 |
15-26890898-T-C | GABRB3 | c.241-24217A>G | - | IntronicSNV | - | 3/8 |
1-12486319-C-T | VPS13D | c.12333+9439C>T | - | IntronicSNV | - | 65/69 |
3-195244231-G-C | PPP1R2 | c.572-491C>G | - | IntronicSNV | - | 5/5 |
1-167040788-C-A | GPA33 | c.198+1834G>T | - | IntronicSNV | - | 2/6 |
5-82792625-A-C | VCAN | c.748+2875A>C | - | IntronicSNV | - | 5/14 |
1-169162603-T-C | NME7 | c.991-23811A>G | - | IntronicSNV | - | 10/11 |
6-135322744-C-T | HBS1L | c.413+1128G>A | - | IntronicSNV | - | 4/16 |
13-99402654-C-G | SLC15A1 | c.4+2195G>C | - | IntronicSNV | - | 1/22 |
13-50333778-G-A | KPNA3 | c.70-12649C>T | - | IntronicSNV | - | 1/16 |
19-8953383-G-A | MBD3L1 | c.29G>A | p.Arg10His | Missense | 1/1 | - |
1-205896235-G-A | SLC26A9 | c.1293+104C>T | - | IntronicSNV | - | 11/20 |
6-127808155-G-C | SOGA3 | c.1486-4026C>G | - | IntronicSNV | - | 4/11 |
11-61551356-T-C | MYRF | c.3033T>C | p.Ser1011Ser | Synonymous | 23/26 | - |
4-99829966-C-G | EIF4E | c.19-6833G>C | - | IntronicSNV | - | 1/6 |
12-124860705-G-A | NCOR2 | c.2168-1696C>T | - | IntronicSNV | - | 20/48 |
6-135258010-T-A | ALDH8A1 | c.443-3840A>T | - | IntronicSNV | - | 3/5 |
6-135258010-T-G | ALDH8A1 | c.443-3840A>C | - | IntronicSNV | - | 3/5 |
6-29912410-G-A | HLA-A | c.1012+17G>A | - | IntronicSNV | - | 5/7 |
6-135322744-C-G | HBS1L | c.413+1128G>C | - | IntronicSNV | - | 4/16 |
13-99402654-C-T | SLC15A1 | c.4+2195G>A | - | IntronicSNV | - | 1/22 |
9-4845520-A-G | RCL1 | c.867+839A>G | - | IntronicSNV | - | 7/8 |
13-50333778-G-T | KPNA3 | c.70-12649C>A | - | IntronicSNV | - | 1/16 |
16-89962635-C-A | TCF25 | c.1022+144C>A | - | IntronicSNV | - | 9/17 |
1-165655559-C-T | ALDH9A1 | c.328-3212G>A | - | IntronicSNV | - | 2/10 |
1-165667512-T-A | ALDH9A1 | c.181+103A>T | - | IntronicSNV | - | 1/10 |
1-169101935-C-T | ATP1B1 | c.*1142C>T | - | 3-UTRSNV | 6/6 | - |
1-165667512-T-C | ALDH9A1 | c.181+103A>G | - | IntronicSNV | - | 1/10 |
1-169101935-C-G | ATP1B1 | c.*1142C>G | - | 3-UTRSNV | 6/6 | - |
1-78973075-T-C | PTGFR | c.798+13849T>C | - | IntronicSNV | - | 2/2 |
6-29913639-A-G | HLA-A | c.*407A>G | - | 3-UTRSNV | 8/8 | - |
11-120093920-A-G | OAF | c.232-2450A>G | - | IntronicSNV | - | 1/3 |
11-120093920-A-C | OAF | c.232-2450A>C | - | IntronicSNV | - | 1/3 |
6-144958810-C-T | UTRN | c.7480-40732C>T | - | IntronicSNV | - | 50/73 |
22-42280135-G-C | SREBF2 | c.2039-711G>C | - | IntronicSNV | - | 10/18 |
3-132055798-C-T | ACPP | c.457-502C>T | - | IntronicSNV | - | 4/9 |
2-50419443-T-C | NRXN1 | c.3666+44484A>G | - | IntronicSNV | - | 19/23 |
3-127947272-C-T | EEFSEC | c.317-18407C>T | - | IntronicSNV | - | 1/6 |
18-44187365-C-T | LOXHD1 | c.760-3173G>A | - | IntronicSNV | - | 6/39 |
17-42052439-G-C | PYY | c.-462-8539C>G | - | intron_variant | - | 1/6 |
3-13008005-C-G | IQSEC1 | c.65+882G>C | - | IntronicSNV | - | 1/13 |
1-11854476-T-G | MTHFR | c.1286A>C | p.Glu429Ala | Missense | 8/12 | - |
20-18377897-A-G | DZANK1 | c.1537-707T>C | - | IntronicSNV | - | 14/20 |
12-2105855-C-T | DCP1B | c.191+1246G>A | - | IntronicSNV | - | 2/8 |
11-120087541-C-T | OAF | c.231+5323C>T | - | IntronicSNV | - | 1/3 |
6-135299368-T-C | HBS1L | c.1671+449A>G | - | IntronicSNV | - | 14/16 |
11-61557826-T-C | TMEM258 | c.113+139A>G | - | IntronicSNV | - | 2/3 |
2-242113166-C-A | PPP1R7 | c.906+3884C>A | - | IntronicSNV | - | 9/9 |
17-65870073-C-G | BPTF | c.1661-860C>G | - | IntronicSNV | - | 3/29 |
6-31503988-G-C | DDX39B | c.616+289C>G | - | IntronicSNV | - | 5/10 |
3-195515340-G-A | MUC4 | c.3111C>T | p.His1037His | Synonymous | 2/25 | - |
3-195515340-G-C | MUC4 | c.3111C>G | p.His1037Gln | Missense | 2/25 | - |
6-32824903-G-A | PSMB9 | c.129-137G>A | - | IntronicSNV | - | 2/5 |
12-2091257-C-T | DCP1B | c.319+11173G>A | - | IntronicSNV | - | 3/8 |
6-29913430-C-T | HLA-A | c.*198C>T | - | 3-UTRSNV | 8/8 | - |
9-4855858-A-T | RCL1 | c.972-4267A>T | - | IntronicSNV | - | 8/8 |
2-120274003-T-C | SCTR | c.72+7728A>G | - | IntronicSNV | - | 1/12 |
6-29910324-G-C | HLA-A | c.1-7G>C | - | 5-UTRSNV | 1/8 | - |
6-170850278-G-A | PSMB1 | c.433+2411C>T | - | IntronicSNV | - | 4/5 |
6-30071110-T-C | TRIM31 | c.*203A>G | - | 3-UTRSNV | 9/9 | - |
6-30071110-T-A | TRIM31 | c.*203A>T | - | 3-UTRSNV | 9/9 | - |
5-156938327-G-A | ADAM19 | c.739-1852C>T | - | IntronicSNV | - | 8/22 |
8-11587234-G-A | GATA4 | c.617-19194G>A | - | IntronicSNV | - | 2/6 |
19-6151106-C-G | ACSBG2 | c.298-612C>G | - | IntronicSNV | - | 3/14 |
19-6151106-C-A | ACSBG2 | c.298-612C>A | - | IntronicSNV | - | 3/14 |
4-72352596-C-G | SLC4A4 | c.1772-69C>G | - | IntronicSNV | - | 11/22 |
4-72352596-C-T | SLC4A4 | c.1772-69C>T | - | IntronicSNV | - | 11/22 |
21-46932328-G-A | COL18A1 | c.*16G>A | - | 3-UTRSNV | 41/41 | - |
11-61573540-C-T | FADS1 | c.976+596G>A | - | IntronicSNV | - | 6/11 |
6-33546825-T-C | BAK1 | c.-32+977A>G | - | intron_variant | - | 1/5 |
5-145838075-A-T | TCERG1 | c.439-372A>T | - | IntronicSNV | - | 3/20 |
11-61551927-A-C | MYRF | c.3180+70A>C | - | IntronicSNV | - | 24/25 |
9-27112343-T-C | TEK | c.52+2703T>C | - | IntronicSNV | - | 1/22 |
6-135269187-C-A | ALDH8A1 | c.138+1867G>T | - | IntronicSNV | - | 1/5 |
11-61547237-C-T | MYRF | c.2221-77C>T | - | IntronicSNV | - | 16/25 |
10-98165797-T-C | TLL2 | c.1165-706A>G | - | IntronicSNV | - | 9/20 |
1-156743173-G-A | PRCC | c.468+5142G>A | - | IntronicSNV | - | 1/6 |
15-33011851-G-T | GREM1 | c.-2+1489G>T | - | intron_variant | - | 1/1 |
5-145832433-C-T | TCERG1 | c.60-2186C>T | - | IntronicSNV | - | 1/20 |
2-242068968-G-A | PASK | c.1464-2102C>T | - | IntronicSNV | - | 9/17 |
20-264764-C-G | C20orf96 | c.188-42G>C | - | IntronicSNV | - | 3/10 |
20-264764-C-T | C20orf96 | c.188-42G>A | - | IntronicSNV | - | 3/10 |
20-264764-C-A | C20orf96 | c.188-42G>T | - | IntronicSNV | - | 3/10 |
10-134018834-C-T | DPYSL4 | c.*400C>T | - | 3-UTRSNV | 14/14 | - |
13-72434360-A-G | DACH1 | c.854+5694T>C | - | IntronicSNV | - | 1/6 |
17-25895816-A-C | KSR1 | c.1-8741A>C | - | IntronicSNV | - | 2/21 |
9-140431221-T-C | PNPLA7 | c.672+3873A>G | - | IntronicSNV | - | 7/33 |
1-232604130-A-T | SIPA1L2 | c.2244-2968T>A | - | IntronicSNV | - | 6/20 |
16-89985940-G-A | MC1R | c.274G>A | p.Val92Met | Missense | 1/1 | - |
2-170205425-T-C | LRP2 | c.79+13406A>G | - | IntronicSNV | - | 1/78 |
3-169300219-C-A | MECOM | c.37+80905G>T | - | IntronicSNV | - | 1/16 |
22-34134039-G-C | LARGE1 | c.106+23319C>G | - | IntronicSNV | - | 2/14 |
22-34134039-G-T | LARGE1 | c.106+23319C>A | - | IntronicSNV | - | 2/14 |
22-29902920-G-A | THOC5 | c.*1526C>T | - | IntergenicSNV | 20/20 | - |
11-61582708-T-C | FADS1 | c.375+1319A>G | - | IntronicSNV | - | 1/11 |
16-89896243-C-G | SPIRE2 | c.244+1041C>G | - | IntronicSNV | - | 1/14 |
6-135371148-C-G | HBS1L | c.109+572G>C | - | IntronicSNV | - | 2/16 |
1-50623740-T-C | ELAVL4 | c.250+12871T>C | - | IntronicSNV | - | 2/6 |
7-95610203-G-A | DYNC1I1 | c.631+3290G>A | - | IntronicSNV | - | 7/16 |
1-155927752-G-A | ARHGEF2 | c.1462-79C>T | - | IntronicSNV | - | 12/21 |
7-104409059-G-A | LHFPL3 | c.682+31701G>A | - | IntronicSNV | - | 2/2 |
7-154669744-C-T | DPP6 | c.2078+1934C>T | - | intron_variant | - | 20/25 |
13-50333864-T-C | KPNA3 | c.70-12735A>G | - | IntronicSNV | - | 1/16 |
9-19740983-C-T | SLC24A2 | c.930+44952G>A | - | IntronicSNV | - | 1/9 |
9-136746204-C-T | VAV2 | c.322-19650G>A | - | IntronicSNV | - | 2/29 |
22-42526694-G-A | CYP2D6 | c.100C>T | p.Pro34Ser | Missense | 1/9 | - |
3-169300219-C-T | MECOM | c.37+80905G>A | - | IntronicSNV | - | 1/16 |
3-169300219-C-G | MECOM | c.37+80905G>C | - | IntronicSNV | - | 1/16 |
1-161682441-G-A | FCRLA | c.784+433G>A | - | intron_variant | - | 4/4 |
16-89975572-A-G | TCF25 | c.1800-1427A>G | - | IntronicSNV | - | 16/17 |
16-89896243-C-T | SPIRE2 | c.244+1041C>T | - | IntronicSNV | - | 1/14 |
4-99936217-G-C | METAP1 | c.115-13801G>C | - | IntronicSNV | - | 1/10 |
4-99936217-G-A | METAP1 | c.115-13801G>A | - | IntronicSNV | - | 1/10 |
1-66043112-A-G | LEPR | c.494+4980A>G | - | IntronicSNV | - | 5/19 |
4-76577839-A-G | G3BP2 | c.825+1328T>C | - | IntronicSNV | - | 8/11 |
11-61619829-C-A | FADS2 | c.744+4073C>A | - | IntronicSNV | - | 5/11 |
11-61619829-C-T | FADS2 | c.744+4073C>T | - | IntronicSNV | - | 5/11 |
2-179747968-G-A | CCDC141 | c.1719+1660C>T | - | IntronicSNV | - | 11/23 |
16-89993204-C-A | TUBB3 | c.57+3338C>A | - | IntronicSNV | - | 1/3 |
16-89993204-C-G | TUBB3 | c.57+3338C>G | - | IntronicSNV | - | 1/3 |
2-154731287-G-A | GALNT13 | c.-177+2471G>A | - | intron_variant | - | 1/12 |
22-29903117-T-C | THOC5 | c.*1329A>G | - | IntergenicSNV | 20/20 | - |
10-55741088-A-G | PCDH15 | c.2868+14321T>C | - | IntronicSNV | - | 21/32 |
11-61621556-G-C | FADS2 | c.745-2927G>C | - | IntronicSNV | - | 5/11 |
1-159171603-C-A | CADM3 | c.*891C>A | - | 3-UTRSNV | 10/10 | - |
1-159171603-C-G | CADM3 | c.*891C>G | - | 3-UTRSNV | 10/10 | - |
5-10422579-A-G | MARCH6 | c.2284-1268A>G | - | IntronicSNV | - | 22/25 |
16-89947457-A-G | TCF25 | c.193-2302A>G | - | IntronicSNV | - | 1/17 |
2-113884202-G-C | IL1RN | c.74-1064G>C | - | IntronicSNV | - | 2/5 |
16-90026049-C-G | DEF8 | c.697+486C>G | - | IntronicSNV | - | 6/12 |
3-66444697-A-C | LRIG1 | c.1305-70T>G | - | IntronicSNV | - | 11/18 |
1-12546848-C-A | VPS13D | c.12663-10706C>A | - | IntronicSNV | - | 67/69 |
11-61641889-G-A | FADS3 | c.1287-552C>T | - | IntronicSNV | - | 11/11 |
1-205883890-G-C | SLC26A9 | c.*595C>G | - | 3-UTRSNV | 21/21 | - |
1-205883890-G-T | SLC26A9 | c.*595C>A | - | 3-UTRSNV | 21/21 | - |
1-12546848-C-G | VPS13D | c.12663-10706C>G | - | IntronicSNV | - | 67/69 |
16-89733657-A-G | SPATA33 | c.209-2037A>G | - | IntronicSNV | - | 2/2 |
11-61609750-C-T | FADS2 | c.618+1553C>T | - | IntronicSNV | - | 4/11 |
3-195258384-C-T | PPP1R2 | c.123-1682G>A | - | IntronicSNV | - | 1/5 |
8-73848139-A-T | KCNB2 | c.580-31A>T | - | IntronicSNV | - | 2/2 |
15-65153690-G-A | PLEKHO2 | c.399G>A | p.Lys133Lys | Synonymous | 5/6 | - |
5-146650895-C-G | STK32A | c.53-6792C>G | - | IntronicSNV | - | 2/6 |
5-7870973-A-G | MTRR | c.66A>G | p.Ile22Met | Missense | 2/15 | - |
3-195496792-T-C | MUC4 | c.13398+295A>G | - | IntronicSNV | - | 6/24 |
22-42906861-T-C | RRP7A | c.*2055A>G | - | 3-UTRSNV | 7/7 | - |
22-42906861-T-A | RRP7A | c.*2055A>T | - | 3-UTRSNV | 7/7 | - |
3-195128538-A-G | ACAP2 | c.54-15662T>C | - | IntronicSNV | - | 1/22 |
17-36996478-G-A | C17orf98 | c.207+958C>T | - | IntronicSNV | - | 1/2 |
9-14226139-A-C | NFIB | c.563-46360T>G | - | IntronicSNV | - | 2/8 |
20-30810276-G-A | POFUT1 | c.542+5752G>A | - | IntronicSNV | - | 4/6 |
7-40447971-G-A | SUGCT | c.727-40915G>A | - | IntronicSNV | - | 9/14 |
1-169114829-C-T | NME7 | c.1099-12774G>A | - | IntronicSNV | - | 11/11 |
12-112280231-C-A | MAPKAPK5 | c.1-307C>A | - | 5-UTRSNV | 1/14 | - |
6-90805832-T-G | BACH2 | c.-161-7004A>C | - | intron_variant | - | 4/8 |
6-33040307-G-A | HLA-DPA1 | c.100+941C>T | - | IntronicSNV | - | 1/4 |
4-185566831-C-T | CASP3 | c.-16+2788G>A | - | intron_variant | - | 2/7 |
7-101537460-G-T | CUX1 | c.64-21935G>T | - | IntronicSNV | - | 1/22 |
1-151488782-T-G | CGN | c.1-2214T>G | - | IntronicSNV | - | 1/20 |
10-45921877-C-T | ALOX5 | c.834+1297C>T | - | IntronicSNV | - | 6/13 |
14-74473825-G-A | ENTPD5 | c.-71+3969C>T | - | intron_variant | - | 3/15 |
4-99945207-G-A | METAP1 | c.115-4811G>A | - | IntronicSNV | - | 1/10 |
15-72283291-C-T | MYO9A | c.1722+153G>A | - | IntronicSNV | - | 11/41 |
11-47116823-T-G | C11orf49 | c.281-42373T>G | - | IntronicSNV | - | 3/8 |
20-45256164-T-G | SLC13A3 | c.1-13830A>C | - | IntronicSNV | - | 2/13 |
20-30877317-A-G | KIF3B | c.-66+11749A>G | - | intron_variant | - | 1/8 |
5-172436519-G-C | ATP6V0E1 | c.153-10722G>C | - | IntronicSNV | - | 2/3 |
16-90024900-A-G | DEF8 | c.556-522A>G | - | IntronicSNV | - | 5/12 |
3-195244647-T-G | PPP1R2 | c.572-907A>C | - | IntronicSNV | - | 5/5 |
16-89986760-A-G | MC1R | c.*140A>G | - | 3-UTRSNV | 1/1 | - |
19-34681976-G-A | LSM14A | c.122-3407G>A | - | IntronicSNV | - | 1/9 |
2-26928811-G-A | KCNK3 | c.283+12785G>A | - | IntronicSNV | - | 1/1 |
4-16705623-T-C | LDB2 | c.235+55158A>G | - | IntronicSNV | - | 2/8 |
22-45324974-G-A | PHF21B | c.121-8604C>T | - | IntronicSNV | - | 2/12 |
12-112280231-C-T | MAPKAPK5 | c.1-307C>T | - | 5-UTRSNV | 1/14 | - |
3-128008032-C-T | EEFSEC | c.786+24408C>T | - | IntronicSNV | - | 4/6 |
11-61603358-A-T | FADS2 | c.208-1892A>T | - | IntronicSNV | - | 1/11 |
2-113410015-A-G | SLC20A1 | c.562-264A>G | - | IntronicSNV | - | 4/10 |
4-185566781-C-T | CASP3 | c.-16+2838G>A | - | intron_variant | - | 2/7 |
19-8953383-G-C | MBD3L1 | c.29G>C | p.Arg10Pro | Missense | 1/1 | - |
6-134630812-C-T | SGK1 | c.69+7718G>A | - | IntronicSNV | - | 1/13 |
5-132073002-A-G | KIF3A | c.6+104T>C | - | IntronicSNV | - | 1/16 |
5-115529052-A-G | COMMD10 | c.510+59177A>G | - | IntronicSNV | - | 5/6 |
3-129312989-A-G | PLXND1 | c.1312-4619T>C | - | IntronicSNV | - | 1/35 |
6-169993405-A-C | WDR27 | c.2424+8910T>G | - | IntronicSNV | - | 23/25 |
11-61500487-C-T | DAGLA | c.974+1574C>T | - | IntronicSNV | - | 9/19 |
13-26534333-G-A | ATP8A2 | c.3184-1380G>A | - | IntronicSNV | - | 33/36 |
2-108997262-C-T | SULT1C4 | c.170-956C>T | - | IntronicSNV | - | 1/6 |
11-126265841-A-T | ST3GAL4 | c.1-10210A>T | - | IntronicSNV | - | 1/10 |
11-126265841-A-G | ST3GAL4 | c.1-10210A>G | - | IntronicSNV | - | 1/10 |
16-89930087-T-A | SPIRE2 | c.1710+69T>A | - | IntronicSNV | - | 11/14 |
20-31009292-C-T | ASXL1 | c.253-6639C>T | - | IntronicSNV | - | 4/12 |
1-8482032-T-C | RERE | c.1284+755A>G | - | IntronicSNV | - | 12/22 |
2-64368896-C-G | PELI1 | c.-70+2319G>C | - | intron_variant | - | 1/6 |
20-40208900-G-A | CHD6 | c.1-28924C>T | - | IntronicSNV | - | 1/36 |
20-40208900-G-C | CHD6 | c.1-28924C>G | - | IntronicSNV | - | 1/36 |
7-76825242-G-A | FGL2 | c.*354C>T | - | 3-UTRSNV | 2/2 | - |
22-39711351-A-G | RPL3 | c.688+23T>C | - | IntronicSNV | - | 5/9 |
19-7187971-C-T | INSR | c.653-3323G>A | - | IntronicSNV | - | 2/21 |
11-61571348-C-T | FADS1 | c.1054-109G>A | - | IntronicSNV | - | 7/11 |
10-1088393-A-G | IDI1 | c.537+179T>C | - | IntronicSNV | - | 4/4 |
8-86353250-G-T | CA3 | c.233-1052G>T | - | IntronicSNV | - | 2/6 |
6-135252195-G-T | ALDH8A1 | c.699+1719C>A | - | IntronicSNV | - | 4/5 |
1-22444975-C-T | WNT4 | c.*1568G>A | - | 3-UTRSNV | 5/5 | - |
1-234353466-C-G | SLC35F3 | c.284-13697C>G | - | IntronicSNV | - | 2/7 |
7-76838874-C-G | CCDC146 | c.157-27390C>G | - | IntronicSNV | - | 2/18 |
12-112518803-G-A | NAA25 | c.477+61C>T | - | IntronicSNV | - | 5/23 |
6-32035861-A-G | TNXB | c.6221-100T>C | - | IntronicSNV | - | 17/43 |
1-169101060-G-A | ATP1B1 | c.*267G>A | - | 3-UTRSNV | 6/6 | - |
11-16999569-T-C | PLEKHA7 | c.221+35967A>G | - | IntronicSNV | - | 3/22 |
7-6199072-G-C | USP42 | c.3944-9G>C | - | IntronicSNV | - | 16/17 |
4-141561949-C-T | TBC1D9 | c.2338-1367G>A | - | IntronicSNV | - | 13/20 |
6-135305304-T-C | HBS1L | c.1366+1175A>G | - | IntronicSNV | - | 11/16 |
7-28996560-C-T | TRIL | c.1103G>A | p.Arg368Gln | Missense | 3/3 | - |
1-234353466-C-T | SLC35F3 | c.284-13697C>T | - | IntronicSNV | - | 2/7 |
4-47540509-A-G | ATP10D | c.1396+1554A>G | - | IntronicSNV | - | 9/22 |
16-89904834-G-A | SPIRE2 | c.245-6896G>A | - | IntronicSNV | - | 1/14 |
16-89904834-G-C | SPIRE2 | c.245-6896G>C | - | IntronicSNV | - | 1/14 |
5-142596013-C-T | ARHGAP26 | c.2356+2360C>T | - | IntronicSNV | - | 22/22 |
7-127237312-T-G | FSCN3 | c.960+812T>G | - | IntronicSNV | - | 3/6 |
6-135315398-C-T | HBS1L | c.840-385G>A | - | IntronicSNV | - | 6/16 |
7-127237312-T-C | FSCN3 | c.960+812T>C | - | IntronicSNV | - | 3/6 |
20-39808050-C-G | ZHX3 | c.*5781G>C | - | 3-UTRSNV | 4/4 | - |
20-19241476-A-G | SLC24A3 | c.143-20127A>G | - | IntronicSNV | - | 1/16 |
3-195529118-T-C | MUC4 | c.82+9489A>G | - | IntronicSNV | - | 1/24 |
2-133995981-A-G | NCKAP5 | c.144-24630T>C | - | IntronicSNV | - | 4/17 |
10-33517583-C-T | NRP1 | c.982-2366G>A | - | IntronicSNV | - | 6/11 |
2-172381046-G-A | CYBRD1 | c.193+1798G>A | - | IntronicSNV | - | 1/3 |
10-33517583-C-A | NRP1 | c.982-2366G>T | - | IntronicSNV | - | 6/11 |
22-43697531-C-T | SCUBE1 | c.350-10345G>A | - | IntronicSNV | - | 3/21 |
3-195267789-A-T | PPP1R2 | c.122+1938T>A | - | IntronicSNV | - | 1/5 |
6-135293142-G-A | HBS1L | c.1672-2666C>T | - | IntronicSNV | - | 14/16 |
16-90026775-A-G | DEF8 | c.698-564A>G | - | IntronicSNV | - | 6/12 |
4-99945207-G-C | METAP1 | c.115-4811G>C | - | IntronicSNV | - | 1/10 |
22-34291465-G-A | LARGE1 | c.-83+24518C>T | - | intron_variant | - | 1/14 |
1-66102257-G-A | LEPR | c.3057G>A | p.Pro1019Pro | Synonymous | 20/20 | - |
12-111725185-C-A | CUX2 | c.302-4037C>A | - | IntronicSNV | - | 4/21 |
3-97460543-G-C | EPHA6 | c.3128+5581G>C | - | IntronicSNV | - | 16/17 |
22-34142936-T-G | LARGE1 | c.106+14422A>C | - | IntronicSNV | - | 2/14 |
11-61611216-C-T | FADS2 | c.618+3019C>T | - | IntronicSNV | - | 4/11 |
11-12912949-C-A | TEAD1 | c.699+8277C>A | - | IntronicSNV | - | 9/12 |
10-28405411-G-C | MPP7 | c.952+3169C>G | - | IntronicSNV | - | 13/18 |
10-28405411-G-T | MPP7 | c.952+3169C>A | - | IntronicSNV | - | 13/18 |
15-41106485-A-C | ZFYVE19 | c.*61A>C | - | 3-UTRSNV | 12/12 | - |
16-90025640-G-C | DEF8 | c.697+77G>C | - | IntronicSNV | - | 6/12 |
15-41106485-A-T | ZFYVE19 | c.*61A>T | - | 3-UTRSNV | 12/12 | - |
5-137603293-G-A | GFRA3 | c.92-3056C>T | - | IntronicSNV | - | 1/7 |
16-90031419-G-A | DEF8 | c.1436+436G>A | - | IntronicSNV | - | 12/12 |
3-31863633-A-G | OSBPL10 | c.537+54292T>C | - | IntronicSNV | - | 3/10 |
1-31350501-G-C | SDC3 | c.257-489C>G | - | IntronicSNV | - | 2/4 |
1-31350501-G-T | SDC3 | c.257-489C>A | - | IntronicSNV | - | 2/4 |
7-105612703-T-G | CDHR3 | c.47-2587T>G | - | IntronicSNV | - | 1/18 |
11-61631690-T-A | FADS2 | c.1157+432T>A | - | IntronicSNV | - | 10/11 |
3-188552395-C-G | LPP | c.1411-31593C>G | - | IntronicSNV | - | 8/10 |
11-61567753-C-A | FADS1 | c.*2130G>T | - | 3-UTRSNV | 12/12 | - |
16-89956249-T-C | TCF25 | c.614+2124T>C | - | IntronicSNV | - | 5/17 |
11-10664138-G-C | MRVI1 | c.199-8520C>G | - | IntronicSNV | - | 1/19 |
6-29911011-C-T | HLA-A | c.344-34C>T | - | IntronicSNV | - | 2/7 |
7-6435901-G-A | RAC1 | c.226-2392G>A | - | IntronicSNV | - | 3/6 |
3-195253881-G-A | PPP1R2 | c.231-2187C>T | - | IntronicSNV | - | 2/5 |
6-149829761-C-T | PPIL4 | c.1228-2921G>A | - | IntronicSNV | - | 12/12 |
15-28213850-C-T | OCA2 | c.1504-1882G>A | - | IntronicSNV | - | 14/23 |
1-31350501-G-A | SDC3 | c.257-489C>T | - | IntronicSNV | - | 2/4 |
6-31774203-C-T | LSM2 | c.4-284G>A | - | IntronicSNV | - | 1/4 |
16-89994413-G-C | TUBB3 | c.57+4547G>C | - | IntronicSNV | - | 1/3 |
2-109217901-C-T | LIMS1 | c.-5+13020C>T | - | intron_variant | - | 1/9 |
2-63612811-A-G | WDPCP | c.1436-3582T>C | - | IntronicSNV | - | 10/17 |
7-147738494-T-C | CNTNAP2 | c.2383+63413T>C | - | IntronicSNV | - | 15/23 |
7-120179545-G-A | KCND2 | c.1116-193412G>A | - | IntronicSNV | - | 1/5 |
10-88622353-A-G | BMPR1A | c.1-13423A>G | - | IntronicSNV | - | 2/12 |
22-34137172-C-A | LARGE1 | c.106+20186G>T | - | IntronicSNV | - | 2/14 |
7-154654273-T-G | DPP6 | c.1715-5432T>G | - | intron_variant | - | 17/25 |
5-146832485-C-A | DPYSL3 | c.39+627G>T | - | IntronicSNV | - | 1/13 |
7-154654273-T-C | DPP6 | c.1715-5432T>C | - | intron_variant | - | 17/25 |
3-195267378-A-G | PPP1R2 | c.122+2349T>C | - | IntronicSNV | - | 1/5 |
6-29912614-C-A | HLA-A | c.1012+221C>A | - | IntronicSNV | - | 5/7 |
6-135287413-A-G | HBS1L | c.1917+54T>C | - | IntronicSNV | - | 16/16 |
20-25521346-A-T | NINL | c.1-14123T>A | - | IntronicSNV | - | 1/23 |
20-25521346-A-G | NINL | c.1-14123T>C | - | IntronicSNV | - | 1/23 |
20-62373983-G-A | SLC2A4RG | c.960+15G>A | - | IntronicSNV | - | 6/7 |
22-34139032-C-T | LARGE1 | c.106+18326G>A | - | IntronicSNV | - | 2/14 |
16-89508541-A-G | ANKRD11 | c.-144-23765T>C | - | intron_variant | - | 1/12 |
8-13110302-C-A | DLC1 | c.1348+52476G>T | - | IntronicSNV | - | 5/17 |
8-13110302-C-G | DLC1 | c.1348+52476G>C | - | IntronicSNV | - | 5/17 |
6-135345947-C-T | HBS1L | c.304+14764G>A | - | IntronicSNV | - | 3/16 |
16-89904834-G-T | SPIRE2 | c.245-6896G>T | - | IntronicSNV | - | 1/14 |
6-135255036-G-A | ALDH8A1 | c.443-866C>T | - | IntronicSNV | - | 3/5 |
4-72339792-C-A | SLC4A4 | c.1771+1105C>A | - | IntronicSNV | - | 11/22 |
8-82581392-G-C | IMPA1 | c.566+1782C>G | - | IntronicSNV | - | 7/8 |
6-111316362-C-G | RPF2 | c.235-2024C>G | - | IntronicSNV | - | 4/9 |
6-135262976-T-A | ALDH8A1 | c.442+571A>T | - | IntronicSNV | - | 3/5 |
20-25207773-C-A | ENTPD6 | c.*1540C>A | - | IntergenicSNV | 14/14 | - |
20-25207773-C-G | ENTPD6 | c.*1540C>G | - | IntergenicSNV | 14/14 | - |
17-7395549-A-G | POLR2A | c.94-3711A>G | - | IntronicSNV | - | 1/28 |
20-25207773-C-T | ENTPD6 | c.*1540C>T | - | IntergenicSNV | 14/14 | - |
5-10464107-C-T | ROPN1L | c.594-853C>T | - | IntronicSNV | - | 4/4 |
11-32717041-G-A | CCDC73 | c.390+3756C>T | - | IntronicSNV | - | 6/17 |
1-205900345-A-C | SLC26A9 | c.552+643T>G | - | IntronicSNV | - | 5/20 |
4-155347393-A-T | DCHS2 | c.2053-48797T>A | - | IntronicSNV | - | 1/7 |
16-90025135-C-G | DEF8 | c.556-287C>G | - | IntronicSNV | - | 5/12 |
16-90025135-C-T | DEF8 | c.556-287C>T | - | IntronicSNV | - | 5/12 |
1-198176723-T-C | NEK7 | c.1-24988T>C | - | IntronicSNV | - | 1/9 |
1-205900345-A-G | SLC26A9 | c.552+643T>C | - | IntronicSNV | - | 5/20 |
1-205900345-A-T | SLC26A9 | c.552+643T>A | - | IntronicSNV | - | 5/20 |
16-89946649-C-A | TCF25 | c.193-3110C>A | - | IntronicSNV | - | 1/17 |
5-132279219-T-C | AFF4 | c.1-6338A>G | - | IntronicSNV | - | 1/20 |
4-91459899-T-C | CCSER1 | c.1724+70394T>C | - | IntronicSNV | - | 5/10 |
9-107586238-C-A | ABCA1 | c.2656+508G>T | - | IntronicSNV | - | 18/49 |
16-90023405-C-A | DEF8 | c.406-514C>A | - | IntronicSNV | - | 4/12 |
15-28205564-A-G | OCA2 | c.1637-2683T>C | - | IntronicSNV | - | 15/23 |
2-242113104-T-C | PPP1R7 | c.906+3822T>C | - | IntronicSNV | - | 9/9 |
17-73334164-C-T | GRB2 | c.79-5286G>A | - | IntronicSNV | - | 2/5 |
16-89954138-G-C | TCF25 | c.614+13G>C | - | IntronicSNV | - | 5/17 |
4-7371403-C-T | SORCS2 | c.481-26612C>T | - | IntronicSNV | - | 1/26 |
2-113412003-C-T | SLC20A1 | c.658+1628C>T | - | IntronicSNV | - | 5/10 |
11-46900659-G-C | LRP4 | c.3004+18C>G | - | IntronicSNV | - | 21/37 |
22-20809620-C-T | KLHL22 | c.1305+2475G>A | - | IntronicSNV | - | 5/6 |
7-101548206-T-C | CUX1 | c.64-11189T>C | - | IntronicSNV | - | 1/22 |
3-126439532-G-A | CHCHD6 | c.88-6389G>A | - | IntronicSNV | - | 1/7 |
8-27328267-C-T | CHRNA2 | c.73+236G>A | - | IntronicSNV | - | 2/6 |
2-113884202-G-T | IL1RN | c.74-1064G>T | - | IntronicSNV | - | 2/5 |
16-89760250-C-G | CDK10 | c.396-331C>G | - | IntronicSNV | - | 8/12 |
18-49891446-A-G | DCC | c.91+24198A>G | - | IntronicSNV | - | 1/28 |
22-29902037-C-T | THOC5 | c.*2409G>A | - | IntergenicSNV | 20/20 | - |
3-169276415-C-A | MECOM | c.37+104709G>T | - | IntronicSNV | - | 1/16 |
15-28344238-A-G | OCA2 | c.-22+132T>C | - | intron_variant | - | 1/23 |
9-95494447-C-A | BICD2 | c.241-2929G>T | - | IntronicSNV | - | 1/7 |
9-95494447-C-T | BICD2 | c.241-2929G>A | - | IntronicSNV | - | 1/7 |
11-46900659-G-T | LRP4 | c.3004+18C>A | - | IntronicSNV | - | 21/37 |
3-132235077-C-T | DNAJC13 | c.5486-189C>T | - | IntronicSNV | - | 46/55 |
3-195262388-T-C | PPP1R2 | c.123-5686A>G | - | IntronicSNV | - | 1/5 |
16-89877269-T-C | FANCA | c.427-59A>G | - | IntronicSNV | - | 4/42 |
16-89947861-T-A | TCF25 | c.193-1898T>A | - | IntronicSNV | - | 1/17 |
4-143444959-C-G | INPP4B | c.1-92547G>C | - | IntronicSNV | - | 2/26 |
3-195259206-G-T | PPP1R2 | c.123-2504C>A | - | IntronicSNV | - | 1/5 |
8-86378134-C-T | CA2 | c.232+436C>T | - | IntronicSNV | - | 2/6 |
6-31094016-T-G | PSORS1C1 | c.1-3394T>G | - | IntronicSNV | - | 1/5 |
7-39121500-A-T | POU6F2 | c.19-3960A>T | - | IntronicSNV | - | 2/10 |
22-46835000-T-C | CELSR1 | c.4406+86A>G | - | IntronicSNV | - | 3/34 |
19-49206631-A-T | FUT2 | c.418A>T | p.Ile140Phe | Missense | 2/2 | - |
11-47116823-T-C | C11orf49 | c.281-42373T>C | - | IntronicSNV | - | 3/8 |
10-97407793-A-G | ALDH18A1 | c.89-4830T>C | - | IntronicSNV | - | 2/17 |
16-89913816-G-A | SPIRE2 | c.288+2043G>A | - | IntronicSNV | - | 2/14 |
16-89811751-C-G | FANCA | c.3514-272G>C | - | IntronicSNV | - | 35/42 |
5-122476457-G-C | PRDM6 | c.901-15121G>C | - | IntronicSNV | - | 3/7 |
5-122476457-G-A | PRDM6 | c.901-15121G>A | - | IntronicSNV | - | 3/7 |
15-27726110-G-T | GABRG3 | c.*127G>T | - | 3-UTRSNV | 6/6 | - |
16-89943214-A-G | TCF25 | c.192+2947A>G | - | IntronicSNV | - | 1/17 |
4-91485877-C-T | CCSER1 | c.1725-63299C>T | - | IntronicSNV | - | 5/10 |
16-89811751-C-T | FANCA | c.3514-272G>A | - | IntronicSNV | - | 35/42 |
6-135262747-C-T | ALDH8A1 | c.442+800G>A | - | IntronicSNV | - | 3/5 |
2-216232978-C-A | FN1 | c.6311-228G>T | - | IntronicSNV | - | 39/43 |
7-151510459-C-G | PRKAG2 | c.115-26832G>C | - | IntronicSNV | - | 1/15 |
16-89941438-T-G | TCF25 | c.192+1171T>G | - | IntronicSNV | - | 1/17 |
16-89941438-T-C | TCF25 | c.192+1171T>C | - | IntronicSNV | - | 1/17 |
4-6857278-T-C | KIAA0232 | c.370-1613T>C | - | IntronicSNV | - | 4/9 |
11-114403674-G-A | NXPE1 | c.1-2371C>T | - | IntronicSNV | - | 2/5 |
20-48531377-C-G | SPATA2 | c.-103+540G>C | - | intron_variant | - | 1/2 |
20-48531377-C-A | SPATA2 | c.-103+540G>T | - | intron_variant | - | 1/2 |
20-48531377-C-T | SPATA2 | c.-103+540G>A | - | intron_variant | - | 1/2 |
4-72352039-C-G | SLC4A4 | c.1772-626C>G | - | IntronicSNV | - | 11/22 |
16-90025320-C-T | DEF8 | c.556-102C>T | - | IntronicSNV | - | 5/12 |
4-72303549-G-A | SLC4A4 | c.676-2784G>A | - | IntronicSNV | - | 4/22 |
16-89961661-G-A | TCF25 | c.928+116G>A | - | IntronicSNV | - | 8/17 |
3-108107951-C-A | MYH15 | c.5491-30G>T | - | IntronicSNV | - | 38/41 |
9-4844265-T-C | RCL1 | c.711-260T>C | - | IntronicSNV | - | 6/8 |
4-141558694-C-T | TBC1D9 | c.2505+1546G>A | - | IntronicSNV | - | 15/20 |
4-141558694-C-A | TBC1D9 | c.2505+1546G>T | - | IntronicSNV | - | 15/20 |
4-141558694-C-G | TBC1D9 | c.2505+1546G>C | - | IntronicSNV | - | 15/20 |
22-39709009-G-A | RPL3 | c.1168-20C>T | - | IntronicSNV | - | 9/9 |
9-136700605-C-T | VAV2 | c.381-1143G>A | - | IntronicSNV | - | 3/29 |
1-155424065-T-C | ASH1L | c.5086+5523A>G | - | IntronicSNV | - | 4/27 |
14-105994592-A-G | TMEM121 | c.1-580A>G | - | IntronicSNV | - | 1/1 |
X-39919182-C-T | BCOR | c.4326+2210G>A | - | IntronicSNV | - | 10/14 |
12-112437149-C-T | TMEM116 | c.-199+5912G>A | - | intron_variant | - | 2/9 |
10-114726843-G-A | TCF7L2 | c.381+15477G>A | - | IntronicSNV | - | 3/13 |
6-135269065-T-A | ALDH8A1 | c.138+1989A>T | - | IntronicSNV | - | 1/5 |
13-30114664-G-C | SLC7A1 | c.1-4339C>G | - | IntronicSNV | - | 2/12 |
19-11164968-C-T | SMARCA4 | c.4425-3963C>T | - | IntronicSNV | - | 30/34 |
4-72360239-C-T | SLC4A4 | c.1843-2979C>T | - | IntronicSNV | - | 12/22 |
19-34710817-A-G | LSM14A | c.1136+35A>G | - | IntronicSNV | - | 8/9 |
19-34710817-A-T | LSM14A | c.1136+35A>T | - | IntronicSNV | - | 8/9 |
9-88355864-A-C | AGTPBP1 | c.-34+826T>G | - | intron_variant | - | 1/25 |
3-66493465-G-A | LRIG1 | c.365+8518C>T | - | IntronicSNV | - | 3/18 |
7-43461932-A-G | HECW1 | c.801+14602A>G | - | IntronicSNV | - | 8/29 |
7-43461932-A-C | HECW1 | c.801+14602A>C | - | IntronicSNV | - | 8/29 |
1-169229855-A-G | NME7 | c.755-22930T>C | - | IntronicSNV | - | 7/11 |
16-89986608-A-G | MC1R | c.942A>G | p.Thr314Thr | Synonymous | 1/1 | - |
6-135265649-A-G | ALDH8A1 | c.139-545T>C | - | IntronicSNV | - | 1/5 |
8-120224806-A-G | MAL2 | c.132+3962A>G | - | intron_variant | - | 2/4 |
2-71560665-A-T | ZNF638 | c.-203+1660A>T | - | intron_variant | - | 1/27 |
6-31001009-A-G | MUC22 | c.5055+651A>G | - | IntronicSNV | - | 4/4 |
11-61571382-G-A | FADS1 | c.1054-143C>T | - | IntronicSNV | - | 7/11 |
22-29902382-C-A | THOC5 | c.*2064G>T | - | IntergenicSNV | 20/20 | - |
1-232604166-C-T | SIPA1L2 | c.2243+2951G>A | - | IntronicSNV | - | 6/20 |
1-232604166-C-A | SIPA1L2 | c.2243+2951G>T | - | IntronicSNV | - | 6/20 |
6-11723542-G-A | ADTRP | c.658+40C>T | - | IntronicSNV | - | 5/5 |
2-172813241-T-C | HAT1 | c.309+3722T>C | - | IntronicSNV | - | 4/10 |
3-195262481-A-C | PPP1R2 | c.123-5779T>G | - | IntronicSNV | - | 1/5 |
22-34154020-C-T | LARGE1 | c.106+3338G>A | - | IntronicSNV | - | 2/14 |
9-139406491-G-A | NOTCH1 | c.2468-768C>T | - | IntronicSNV | - | 15/33 |
6-33547430-G-C | BAK1 | c.-32+372C>G | - | intron_variant | - | 1/5 |
6-135312723-A-C | HBS1L | c.957+2173T>G | - | IntronicSNV | - | 7/16 |
2-28769244-G-A | PLB1 | c.970-2483G>A | - | IntronicSNV | - | 14/56 |
2-133286763-C-G | GPR39 | c.856+111292C>G | - | IntronicSNV | - | 1/1 |
1-35790407-C-T | ZMYM4 | c.40-554C>T | - | IntronicSNV | - | 1/29 |
16-31011183-A-G | STX1B | c.280+1066T>C | - | IntronicSNV | - | 4/9 |
9-4844704-T-C | RCL1 | c.867+23T>C | - | IntronicSNV | - | 7/8 |
10-88622353-A-T | BMPR1A | c.1-13423A>T | - | IntronicSNV | - | 2/12 |
18-12028249-G-A | IMPA2 | c.599+99G>A | - | IntronicSNV | - | 6/7 |
3-30686414-A-T | TGFBR2 | c.338+7A>T | - | IntronicSNV | - | 3/7 |
4-72264128-A-T | SLC4A4 | c.675+758A>T | - | IntronicSNV | - | 4/22 |
2-29119585-A-T | WDR43 | c.225+1796A>T | - | IntronicSNV | - | 1/17 |
16-89721667-T-C | CHMP1A | c.8-1336A>G | - | IntronicSNV | - | 1/6 |
22-29914337-G-A | THOC5 | c.1489+658C>T | - | IntronicSNV | - | 15/19 |
22-29914337-G-T | THOC5 | c.1489+658C>A | - | IntronicSNV | - | 15/19 |
11-61525730-G-A | MYRF | c.19+2816G>A | - | IntronicSNV | - | 1/25 |
3-69795052-A-G | MITF | c.104+6200A>G | - | IntronicSNV | - | 1/9 |
1-2069681-C-T | PRKCZ | c.420+2895C>T | - | IntronicSNV | - | 5/17 |
11-61597212-C-T | FADS2 | c.207+1143C>T | - | IntronicSNV | - | 1/11 |
3-195257650-C-G | PPP1R2 | c.123-948G>C | - | IntronicSNV | - | 1/5 |
11-61622227-T-C | FADS2 | c.745-2256T>C | - | IntronicSNV | - | 5/11 |
5-145846532-G-A | TCERG1 | c.1136-2575G>A | - | IntronicSNV | - | 5/20 |
6-135372103-C-A | HBS1L | c.44-318G>T | - | IntronicSNV | - | 1/16 |
6-135372103-C-T | HBS1L | c.44-318G>A | - | IntronicSNV | - | 1/16 |
3-195128563-G-A | ACAP2 | c.54-15687C>T | - | IntronicSNV | - | 1/22 |
16-90026005-C-A | DEF8 | c.697+442C>A | - | IntronicSNV | - | 6/12 |
16-89967397-A-C | TCF25 | c.1381+195A>C | - | IntronicSNV | - | 12/17 |
16-90026005-C-G | DEF8 | c.697+442C>G | - | IntronicSNV | - | 6/12 |
6-31853047-G-A | EHMT2 | c.2344-254C>T | - | IntronicSNV | - | 18/27 |
17-75395200-T-G | SEPT9 | c.23-2941T>G | - | IntronicSNV | - | 1/10 |
3-196445776-C-G | PIGX | c.176+1984C>G | - | IntronicSNV | - | 2/5 |
6-135303356-A-G | HBS1L | c.1471+240T>C | - | IntronicSNV | - | 12/16 |
4-72358574-A-G | SLC4A4 | c.1843-4644A>G | - | IntronicSNV | - | 12/22 |
7-27977363-T-C | JAZF1 | c.189-42328A>G | - | IntronicSNV | - | 2/4 |
16-89805977-G-A | FANCA | c.3935-16C>T | - | IntronicSNV | - | 39/42 |
16-90034117-A-G | DEF8 | c.*1746A>G | - | 3-UTRSNV | 13/13 | - |
7-27975919-G-C | JAZF1 | c.189-40884C>G | - | IntronicSNV | - | 2/4 |
6-135266941-T-C | ALDH8A1 | c.139-1837A>G | - | IntronicSNV | - | 1/5 |
5-33712526-G-A | ADAMTS12 | c.635-28366C>T | - | IntronicSNV | - | 3/23 |
12-131577038-G-A | ADGRD1 | c.1671+7830G>A | - | IntronicSNV | - | 15/24 |
12-131577038-G-C | ADGRD1 | c.1671+7830G>C | - | IntronicSNV | - | 15/24 |
3-100133636-G-A | LNP1 | c.-34+12353G>A | - | intron_variant | - | 1/3 |
6-80210437-A-T | LCA5 | c.721-6970T>A | - | IntronicSNV | - | 4/8 |
5-33712526-G-T | ADAMTS12 | c.635-28366C>A | - | IntronicSNV | - | 3/23 |
2-71682791-G-T | DYSF | c.88+1575G>T | - | IntronicSNV | - | 1/54 |
2-71682791-G-A | DYSF | c.88+1575G>A | - | IntronicSNV | - | 1/54 |
12-4467921-A-G | TIGAR | c.*6064A>G | - | 3-UTRSNV | 6/6 | - |
16-57068866-G-A | NLRC5 | c.2627+703G>A | - | IntronicSNV | - | 12/47 |
7-105612703-T-C | CDHR3 | c.47-2587T>C | - | IntronicSNV | - | 1/18 |
16-89930426-A-C | SPIRE2 | c.1778+157A>C | - | IntronicSNV | - | 12/14 |
16-89976329-G-T | TCF25 | c.1800-670G>T | - | IntronicSNV | - | 16/17 |
2-39541014-G-C | MAP4K3 | c.997+1437C>G | - | IntronicSNV | - | 13/33 |
11-75749515-T-C | UVRAG | c.1226+21491T>C | - | IntronicSNV | - | 12/14 |
16-89930426-A-G | SPIRE2 | c.1778+157A>G | - | IntronicSNV | - | 12/14 |
14-69873744-T-C | SLC39A9 | c.96+7562T>C | - | IntronicSNV | - | 1/6 |
2-71577629-G-T | ZNF638 | c.1317+228G>T | - | IntronicSNV | - | 2/27 |
4-172908433-G-A | GALNTL6 | c.138+172564G>A | - | IntronicSNV | - | 2/12 |
4-172908433-G-C | GALNTL6 | c.138+172564G>C | - | IntronicSNV | - | 2/12 |
9-86320041-T-C | UBQLN1 | c.180+2374A>G | - | IntronicSNV | - | 1/10 |
10-79258850-C-T | KCNMA1 | c.379-95069G>A | - | IntronicSNV | - | 1/26 |
16-90024866-C-T | DEF8 | c.556-556C>T | - | IntronicSNV | - | 5/12 |
3-132322624-T-C | ACAD11 | c.1523-453A>G | - | IntronicSNV | - | 12/19 |
11-61543961-T-C | MYRF | c.1472+57T>C | - | IntronicSNV | - | 10/25 |
5-145854616-G-A | TCERG1 | c.1539-3440G>A | - | IntronicSNV | - | 8/20 |
12-66557216-G-C | TMBIM4 | c.97+6419C>G | - | IntronicSNV | - | 1/6 |
12-66557216-G-A | TMBIM4 | c.97+6419C>T | - | IntronicSNV | - | 1/6 |
X-72674054-G-T | CDX4 | c.649-161G>T | - | IntronicSNV | - | 2/2 |
6-135252423-T-C | ALDH8A1 | c.699+1491A>G | - | IntronicSNV | - | 4/5 |
16-31129895-A-G | KAT8 | c.211+682A>G | - | IntronicSNV | - | 1/10 |
16-89961597-T-C | TCF25 | c.928+52T>C | - | IntronicSNV | - | 8/17 |
4-185648489-A-G | CENPU | c.214+1583T>C | - | IntronicSNV | - | 3/12 |
12-132559918-G-C | EP400 | c.9022-1143G>C | - | IntronicSNV | - | 51/52 |
7-40888598-G-A | SUGCT | c.1142-11317G>A | - | IntronicSNV | - | 14/14 |
22-41872224-C-T | ACO2 | c.36+7038C>T | - | IntronicSNV | - | 1/17 |
16-89975555-G-C | TCF25 | c.1800-1444G>C | - | IntronicSNV | - | 16/17 |
6-135251063-G-C | ALDH8A1 | c.700-710C>G | - | IntronicSNV | - | 4/5 |
16-89917775-C-T | SPIRE2 | c.645+707C>T | - | IntronicSNV | - | 3/14 |
3-196006538-A-T | PCYT1A | c.-11+3808T>A | - | intron_variant | - | 2/9 |
3-196006538-A-G | PCYT1A | c.-11+3808T>C | - | intron_variant | - | 2/9 |
1-159272764-C-T | FCER1A | c.76+100C>T | - | IntronicSNV | - | 4/6 |
8-144918680-C-G | NRBP2 | c.1264-330G>C | - | IntronicSNV | - | 14/17 |
17-65898809-G-A | BPTF | c.2922-1096G>A | - | IntronicSNV | - | 9/29 |
20-263845-G-A | C20orf96 | c.306+759C>T | - | IntronicSNV | - | 4/10 |
8-144918680-C-T | NRBP2 | c.1264-330G>A | - | IntronicSNV | - | 14/17 |
18-66717643-C-G | CCDC102B | c.1435-3624C>G | - | IntronicSNV | - | 7/7 |
16-89975911-C-T | TCF25 | c.1800-1088C>T | - | IntronicSNV | - | 16/17 |
16-89975911-C-G | TCF25 | c.1800-1088C>G | - | IntronicSNV | - | 16/17 |
17-36994125-C-T | C17orf98 | c.208-632G>A | - | IntronicSNV | - | 1/2 |
16-89942781-G-A | TCF25 | c.192+2514G>A | - | IntronicSNV | - | 1/17 |
7-6169741-G-A | USP42 | c.443-5731G>A | - | IntronicSNV | - | 3/17 |
13-38221582-G-A | TRPC4 | c.2094+3805C>T | - | IntronicSNV | - | 8/10 |
1-169269741-A-G | NME7 | c.441-1740T>C | - | IntronicSNV | - | 5/11 |
16-89920383-C-A | SPIRE2 | c.646-311C>A | - | IntronicSNV | - | 3/14 |
6-31667713-C-T | ABHD16A | c.244+1006G>A | - | IntronicSNV | - | 2/17 |
3-41490064-G-T | ULK4 | c.3492+6924C>A | - | IntronicSNV | - | 34/36 |
3-195497809-T-C | MUC4 | c.13243-567A>G | - | IntronicSNV | - | 5/24 |
1-169269691-G-A | NME7 | c.441-1690C>T | - | IntronicSNV | - | 5/11 |
11-64628870-A-T | EHD1 | c.503-1062T>A | - | IntronicSNV | - | 2/4 |
3-195248350-G-A | PPP1R2 | c.403+2140C>T | - | IntronicSNV | - | 4/5 |
22-45189871-G-A | PRR5-ARHGAP8 | c.472+7385G>A | - | intron_variant | - | 5/14 |
16-89907164-C-T | SPIRE2 | c.245-4566C>T | - | IntronicSNV | - | 1/14 |
17-37040586-C-T | LASP1 | c.165-6087C>T | - | IntronicSNV | - | 2/6 |
17-37040586-C-A | LASP1 | c.165-6087C>A | - | IntronicSNV | - | 2/6 |
18-44210741-G-T | LOXHD1 | c.511+8838C>A | - | IntronicSNV | - | 4/39 |
Y-2808518-C-A | ZFY | c.-29+4708C>A | - | intron_variant | - | 1/7 |
22-34135756-A-G | LARGE1 | c.106+21602T>C | - | IntronicSNV | - | 2/14 |
22-34135756-A-C | LARGE1 | c.106+21602T>G | - | IntronicSNV | - | 2/14 |
16-89932931-C-A | SPIRE2 | c.1779-1666C>A | - | IntronicSNV | - | 12/14 |
6-135263306-C-T | ALDH8A1 | c.442+241G>A | - | IntronicSNV | - | 3/5 |
5-132073002-A-C | KIF3A | c.6+104T>G | - | IntronicSNV | - | 1/16 |
11-61570783-T-C | FADS1 | c.1248+52A>G | - | IntronicSNV | - | 9/11 |
2-112858485-C-T | TMEM87B | c.1450+213C>T | - | IntronicSNV | - | 15/18 |
11-64819168-G-A | NAALADL1 | c.1198+1522C>T | - | IntronicSNV | - | 8/17 |
11-64645037-C-T | EHD1 | c.404+496G>A | - | IntronicSNV | - | 1/4 |
1-36283954-A-G | AGO4 | c.185+1306A>G | - | IntronicSNV | - | 2/17 |
2-173861450-A-T | RAPGEF4 | c.1579+168A>T | - | IntronicSNV | - | 16/30 |
22-43044572-G-A | CYB5R3 | c.21+729C>T | - | IntronicSNV | - | 1/8 |
16-89948397-G-A | TCF25 | c.193-1362G>A | - | IntronicSNV | - | 1/17 |
17-65870073-C-T | BPTF | c.1661-860C>T | - | IntronicSNV | - | 3/29 |
7-76844131-G-A | CCDC146 | c.157-22133G>A | - | IntronicSNV | - | 2/18 |
6-33039899-G-C | HLA-DPA1 | c.100+1349C>G | - | IntronicSNV | - | 1/4 |
11-32421977-G-A | WT1 | c.966-387C>T | - | intron_variant | - | 4/8 |
9-86316398-T-C | UBQLN1 | c.180+6017A>G | - | IntronicSNV | - | 1/10 |
8-32411216-C-T | NRG1 | c.38-42130C>T | - | IntronicSNV | - | 1/11 |
4-6697766-T-G | S100P | c.139-854T>G | - | IntronicSNV | - | 1/1 |
17-9387453-C-G | STX8 | c.541+7693G>C | - | IntronicSNV | - | 6/7 |
7-28187806-C-T | JAZF1 | c.115+32276G>A | - | IntronicSNV | - | 1/4 |
10-14568967-G-C | FAM107B | c.653+3364C>G | - | IntronicSNV | - | 3/4 |
3-97642342-C-T | CRYBG3 | c.8241+7762C>T | - | IntronicSNV | - | 17/21 |
17-30605687-C-T | RHBDL3 | c.136-5991C>T | - | IntronicSNV | - | 2/8 |
22-29916963-G-A | THOC5 | c.1277+24C>T | - | IntronicSNV | - | 13/19 |
11-61733765-A-G | FTH1 | c.115-778T>C | - | IntronicSNV | - | 1/3 |
12-122772514-C-T | CLIP1 | c.3614+522G>A | - | IntronicSNV | - | 20/24 |
3-188530168-C-G | LPP | c.1410+52098C>G | - | IntronicSNV | - | 8/10 |
2-170054242-G-A | LRP2 | c.8579-702C>T | - | IntronicSNV | - | 45/78 |
4-91485388-T-G | CCSER1 | c.1725-63788T>G | - | IntronicSNV | - | 5/10 |
3-45007675-C-T | ZDHHC3 | c.1-6747G>A | - | IntronicSNV | - | 1/7 |
3-195262779-G-A | PPP1R2 | c.123-6077C>T | - | IntronicSNV | - | 1/5 |
11-61571348-C-G | FADS1 | c.1054-109G>C | - | IntronicSNV | - | 7/11 |
10-14585328-T-C | FAM107B | c.470-12814A>G | - | IntronicSNV | - | 2/4 |
7-5460550-C-T | TNRC18 | c.187+141G>A | - | IntronicSNV | - | 2/29 |
15-57766326-C-G | CGNL1 | c.2403+12236C>G | - | IntronicSNV | - | 8/18 |
7-8788243-A-G | NXPH1 | c.55-2395A>G | - | IntronicSNV | - | 2/2 |
7-101537499-G-A | CUX1 | c.64-21896G>A | - | IntronicSNV | - | 1/22 |
7-8788243-A-T | NXPH1 | c.55-2395A>T | - | IntronicSNV | - | 2/2 |
14-95665857-C-T | CLMN | c.2512-2826G>A | - | IntronicSNV | - | 9/12 |
3-195153124-C-T | ACAP2 | c.53+10400G>A | - | IntronicSNV | - | 1/22 |
11-61548559-A-G | MYRF | c.2467+42A>G | - | IntronicSNV | - | 19/25 |
4-141562075-G-A | TBC1D9 | c.2338-1493C>T | - | IntronicSNV | - | 13/20 |
5-146832485-C-T | DPYSL3 | c.39+627G>A | - | IntronicSNV | - | 1/13 |
19-1207238-G-T | STK11 | c.290+36G>T | - | IntronicSNV | - | 1/9 |
19-34682013-A-G | LSM14A | c.122-3370A>G | - | IntronicSNV | - | 1/9 |
11-61539691-G-A | MYRF | c.1088+267G>A | - | IntronicSNV | - | 7/25 |
6-111316362-C-T | RPF2 | c.235-2024C>T | - | IntronicSNV | - | 4/9 |
18-60233646-G-A | ZCCHC2 | c.1846+1317G>A | - | IntronicSNV | - | 11/13 |
10-98070849-C-T | DNTT | c.203+6392C>T | - | IntronicSNV | - | 1/10 |
20-37517207-G-A | PPP1R16B | c.251-1031G>A | - | IntronicSNV | - | 2/10 |
6-30889816-G-T | VARS2 | c.1806+44G>T | - | IntronicSNV | - | 19/29 |
16-89963163-T-C | TCF25 | c.1022+672T>C | - | IntronicSNV | - | 9/17 |
6-33047466-T-C | HLA-DPB1 | c.101-983T>C | - | IntronicSNV | - | 1/5 |
13-30112971-C-T | SLC7A1 | c.1-2646G>A | - | IntronicSNV | - | 2/12 |
8-11588439-A-T | GATA4 | c.617-17989A>T | - | IntronicSNV | - | 2/6 |
16-89945369-G-T | TCF25 | c.193-4390G>T | - | IntronicSNV | - | 1/17 |
16-89947203-G-A | TCF25 | c.193-2556G>A | - | IntronicSNV | - | 1/17 |
16-89945369-G-C | TCF25 | c.193-4390G>C | - | IntronicSNV | - | 1/17 |
16-89945369-G-A | TCF25 | c.193-4390G>A | - | IntronicSNV | - | 1/17 |
8-32476837-C-T | NRG1 | c.388+4755C>T | - | IntronicSNV | - | 4/11 |
16-89969603-T-C | TCF25 | c.1382-923T>C | - | IntronicSNV | - | 12/17 |
11-46923168-C-T | LRP4 | c.199+1166G>A | - | IntronicSNV | - | 2/37 |
19-46180457-C-T | GIPR | c.793+91C>T | - | IntronicSNV | - | 8/13 |
7-134469906-G-C | CALD1 | c.-130+5406G>C | - | intron_variant | - | 1/14 |
20-18407370-G-A | DZANK1 | c.954+341C>T | - | IntronicSNV | - | 10/20 |
4-141561714-G-A | TBC1D9 | c.2338-1132C>T | - | IntronicSNV | - | 13/20 |
4-141561714-G-T | TBC1D9 | c.2338-1132C>A | - | IntronicSNV | - | 13/20 |
3-195122930-T-G | ACAP2 | c.54-10054A>C | - | IntronicSNV | - | 1/22 |
1-234247340-T-C | SLC35F3 | c.284-119823T>C | - | IntronicSNV | - | 2/7 |
17-65944515-A-C | BPTF | c.7875+93A>C | - | IntronicSNV | - | 25/29 |
6-135342056-T-G | HBS1L | c.305-18076A>C | - | IntronicSNV | - | 3/16 |
6-135342056-T-C | HBS1L | c.305-18076A>G | - | IntronicSNV | - | 3/16 |
6-170858520-A-C | PSMB1 | c.114-319T>G | - | IntronicSNV | - | 1/5 |
2-214976563-A-T | SPAG16 | c.1593+3578A>T | - | IntronicSNV | - | 14/15 |
9-4849647-T-C | RCL1 | c.971+97T>C | - | IntronicSNV | - | 8/8 |
5-78733242-A-C | HOMER1 | c.527+1591T>G | - | IntronicSNV | - | 5/8 |
4-140696130-C-T | MAML3 | c.2080-44309G>A | - | IntronicSNV | - | 2/4 |
1-21051430-C-A | SH2D5 | c.391-302G>T | - | IntronicSNV | - | 5/9 |
5-79476737-T-A | SERINC5 | c.196-2851A>T | - | IntronicSNV | - | 2/12 |
6-170597305-C-T | DLL1 | c.670+22G>A | - | IntronicSNV | - | 4/10 |
11-44843134-A-C | TSPAN18 | c.-152-38745A>C | - | intron_variant | - | 2/9 |
11-44843134-A-G | TSPAN18 | c.-152-38745A>G | - | intron_variant | - | 2/9 |
9-34107505-C-T | DCAF12 | c.392G>A | p.Arg131Gln | Missense | 3/9 | - |
4-155361274-C-T | DCHS2 | c.2052+49182G>A | - | IntronicSNV | - | 1/7 |
X-69149937-G-A | EDA | c.397-26940G>A | - | IntronicSNV | - | 1/7 |
6-35005084-A-C | ANKS1A | c.2011-16792A>C | - | IntronicSNV | - | 11/23 |
1-169162862-A-T | NME7 | c.991-24070T>A | - | IntronicSNV | - | 10/11 |
1-169162862-A-G | NME7 | c.991-24070T>C | - | IntronicSNV | - | 10/11 |
22-34131736-G-A | LARGE1 | c.106+25622C>T | - | IntronicSNV | - | 2/14 |
11-100900978-C-A | PGR | c.*8869G>T | - | 3-UTRSNV | 8/8 | - |
4-101436201-A-G | EMCN | c.64+2807T>C | - | IntronicSNV | - | 1/11 |
1-23131979-C-T | EPHB2 | c.811+20410C>T | - | IntronicSNV | - | 3/15 |
15-52567523-T-C | MYO5C | c.606+236A>G | - | IntronicSNV | - | 5/40 |
6-33541719-A-G | BAK1 | c.532-35T>C | - | IntronicSNV | - | 5/5 |
6-170597305-C-G | DLL1 | c.670+22G>C | - | IntronicSNV | - | 4/10 |
11-113265999-G-A | ANKK1 | c.633-82G>A | - | IntronicSNV | - | 3/7 |
1-18579038-C-A | IGSF21 | c.183+24534C>A | - | IntronicSNV | - | 2/9 |
11-61618608-A-G | FADS2 | c.744+2852A>G | - | IntronicSNV | - | 5/11 |
5-22651718-A-G | CDH12 | c.-522-146245T>C | - | intron_variant | - | 1/14 |
20-62373079-G-T | SLC2A4RG | c.392-143G>T | - | IntronicSNV | - | 3/7 |
20-62373079-G-C | SLC2A4RG | c.392-143G>C | - | IntronicSNV | - | 3/7 |
20-31039688-A-G | NOL4L | c.1090+351T>C | - | IntronicSNV | - | 7/7 |
2-113419738-C-G | SLC20A1 | c.1879-703C>G | - | IntronicSNV | - | 10/10 |
4-72396727-G-T | SLC4A4 | c.2035-1052G>T | - | IntronicSNV | - | 13/22 |
4-72396727-G-A | SLC4A4 | c.2035-1052G>A | - | IntronicSNV | - | 13/22 |
1-245659114-A-G | KIF26B | c.1167-44955A>G | - | IntronicSNV | - | 4/14 |
7-151510459-C-T | PRKAG2 | c.115-26832G>A | - | IntronicSNV | - | 1/15 |
14-105995534-G-A | TMEM121 | c.363G>A | p.Val121Val | Synonymous | 2/2 | - |
3-196006997-C-T | PCYT1A | c.-11+3349G>A | - | intron_variant | - | 2/9 |
20-37564384-G-A | FAM83D | c.484-6218G>A | - | intron_variant | - | 1/3 |
9-8728435-T-A | PTPRD | c.64+5345A>T | - | IntronicSNV | - | 1/29 |
4-175175243-G-C | FBXO8 | c.456+5607C>G | - | IntronicSNV | - | 3/5 |
1-151497140-T-C | CGN | c.1402-10T>C | - | IntronicSNV | - | 7/20 |
16-90024899-T-A | DEF8 | c.556-523T>A | - | IntronicSNV | - | 5/12 |
1-36275112-G-A | AGO4 | c.19+1076G>A | - | IntronicSNV | - | 1/17 |
6-135369692-G-A | HBS1L | c.109+2028C>T | - | IntronicSNV | - | 2/16 |
4-72259181-G-A | SLC4A4 | c.599-4113G>A | - | IntronicSNV | - | 3/22 |
7-144205905-C-T | TPK1 | c.613+39679G>A | - | IntronicSNV | - | 8/8 |
4-72359084-C-G | SLC4A4 | c.1843-4134C>G | - | IntronicSNV | - | 12/22 |
16-89965842-C-T | TCF25 | c.1221+562C>T | - | IntronicSNV | - | 11/17 |
11-61621194-G-A | FADS2 | c.745-3289G>A | - | IntronicSNV | - | 5/11 |
12-112546345-G-C | NAA25 | c.58+175C>G | - | IntronicSNV | - | 1/23 |
4-72359084-C-T | SLC4A4 | c.1843-4134C>T | - | IntronicSNV | - | 12/22 |
13-38163262-A-G | POSTN | c.442-1139T>C | - | IntronicSNV | - | 4/22 |
16-89973071-G-T | TCF25 | c.1719+379G>T | - | IntronicSNV | - | 15/17 |
3-41490130-T-C | ULK4 | c.3492+6858A>G | - | IntronicSNV | - | 34/36 |
17-3496226-C-G | TRPV1 | c.1-582G>C | - | IntronicSNV | - | 1/15 |
3-169260950-A-G | MECOM | c.37+120174T>C | - | IntronicSNV | - | 1/16 |
1-169264916-T-G | NME7 | c.648+2878A>C | - | IntronicSNV | - | 6/11 |
14-105993254-T-A | TMEM121 | c.-114+264T>A | - | intron_variant | - | 1/1 |
6-135354094-G-C | HBS1L | c.304+6617C>G | - | IntronicSNV | - | 3/16 |
4-185647107-G-C | CENPU | c.215-891C>G | - | IntronicSNV | - | 3/12 |
3-132052808-A-G | ACPP | c.456+1620A>G | - | IntronicSNV | - | 4/9 |
9-125811122-A-G | RABGAP1 | c.1795-16505A>G | - | IntronicSNV | - | 13/25 |
22-40074662-G-A | CACNA1I | c.4951-450G>A | - | IntronicSNV | - | 30/35 |
5-160121376-C-T | ATP10B | c.1-6295G>A | - | IntronicSNV | - | 3/25 |
5-160121376-C-A | ATP10B | c.1-6295G>T | - | IntronicSNV | - | 3/25 |
17-9359776-T-C | STX8 | c.541+35370A>G | - | IntronicSNV | - | 6/7 |
17-9359776-T-A | STX8 | c.541+35370A>T | - | IntronicSNV | - | 6/7 |
15-87298505-A-C | AGBL1 | c.3221+80838A>C | - | intron_variant | - | 23/24 |
4-76577860-C-T | G3BP2 | c.825+1307G>A | - | IntronicSNV | - | 8/11 |
13-72371846-C-T | DACH1 | c.854+68208G>A | - | IntronicSNV | - | 1/6 |
3-32321726-G-A | CMTM8 | c.147+41115G>A | - | IntronicSNV | - | 1/3 |
3-32321726-G-C | CMTM8 | c.147+41115G>C | - | IntronicSNV | - | 1/3 |
1-90298305-C-T | LRRC8D | c.-148+10561C>T | - | intron_variant | - | 1/2 |
14-51114717-T-C | SAV1 | c.536-2985A>G | - | IntronicSNV | - | 2/4 |
11-61551356-T-G | MYRF | c.3033T>G | p.Ser1011Arg | Missense | 23/26 | - |
11-61551356-T-A | MYRF | c.3033T>A | p.Ser1011Arg | Missense | 23/26 | - |
16-89973071-G-A | TCF25 | c.1719+379G>A | - | IntronicSNV | - | 15/17 |
3-196438826-G-T | CEP19 | c.-97C>A | - | 5_prime_UTR_variant | 1/3 | - |
3-41490130-T-A | ULK4 | c.3492+6858A>T | - | IntronicSNV | - | 34/36 |
16-90029105-G-C | DEF8 | c.1104+572G>C | - | IntronicSNV | - | 9/12 |
15-28213924-T-C | OCA2 | c.1504-1956A>G | - | IntronicSNV | - | 14/23 |
16-89906800-G-A | SPIRE2 | c.245-4930G>A | - | IntronicSNV | - | 1/14 |
20-19978872-C-A | RIN2 | c.2511+1386C>A | - | IntronicSNV | - | 11/11 |
20-19978872-C-T | RIN2 | c.2511+1386C>T | - | IntronicSNV | - | 11/11 |
14-74575071-C-T | LIN52 | c.283+7130C>T | - | intron_variant | - | 5/5 |
1-232615792-G-A | SIPA1L2 | c.1982-316C>T | - | IntronicSNV | - | 4/20 |
16-89961957-C-T | TCF25 | c.928+412C>T | - | IntronicSNV | - | 8/17 |
16-89940536-G-T | TCF25 | c.192+269G>T | - | IntronicSNV | - | 1/17 |
12-2562404-G-C | CACNA1C | c.617+4123G>C | - | IntronicSNV | - | 4/46 |
12-2562404-G-A | CACNA1C | c.617+4123G>A | - | IntronicSNV | - | 4/46 |
2-121620828-G-A | GLI2 | c.149-64109G>A | - | IntronicSNV | - | 2/13 |
16-89967397-A-G | TCF25 | c.1381+195A>G | - | IntronicSNV | - | 12/17 |
3-154802920-T-C | MME | c.196+37T>C | - | IntronicSNV | - | 3/22 |
16-89992072-G-T | TUBB3 | c.57+2206G>T | - | IntronicSNV | - | 1/3 |
1-113982627-T-G | MAGI3 | c.316+48656T>G | - | IntronicSNV | - | 1/20 |
11-64638041-C-T | EHD1 | c.502+3852G>A | - | IntronicSNV | - | 2/4 |
11-64638041-C-A | EHD1 | c.502+3852G>T | - | IntronicSNV | - | 2/4 |
16-89900195-G-A | SPIRE2 | c.244+4993G>A | - | IntronicSNV | - | 1/14 |
20-25240189-G-A | PYGB | c.345+215G>A | - | IntronicSNV | - | 2/19 |
21-46932383-G-A | COL18A1 | c.*71G>A | - | 3-UTRSNV | 41/41 | - |
20-25240189-G-T | PYGB | c.345+215G>T | - | IntronicSNV | - | 2/19 |
20-30872803-C-T | KIF3B | c.-66+7235C>T | - | intron_variant | - | 1/8 |
17-3829613-G-A | ATP2A3 | c.3140-878C>T | - | IntronicSNV | - | 22/22 |
21-46932383-G-T | COL18A1 | c.*71G>T | - | 3-UTRSNV | 41/41 | - |
11-61614595-G-T | FADS2 | c.619-1036G>T | - | IntronicSNV | - | 4/11 |
11-61614595-G-A | FADS2 | c.619-1036G>A | - | IntronicSNV | - | 4/11 |
12-132419533-C-T | PUS1 | c.441+2676C>T | - | IntronicSNV | - | 3/5 |
3-71726270-T-C | EIF4E3 | c.*7563A>G | - | IntergenicSNV | 8/8 | - |
10-98168379-G-A | TLL2 | c.1164+1737C>T | - | IntronicSNV | - | 9/20 |
19-13337170-T-C | CACNA1A | c.5643+1075A>G | - | IntronicSNV | - | 38/47 |
16-89957815-A-G | TCF25 | c.615-786A>G | - | IntronicSNV | - | 5/17 |
3-123033693-C-T | ADCY5 | c.2355-524G>A | - | IntronicSNV | - | 11/20 |
13-26529288-A-G | ATP8A2 | c.3184-6425A>G | - | IntronicSNV | - | 33/36 |
7-76844183-G-A | CCDC146 | c.157-22081G>A | - | IntronicSNV | - | 2/18 |
6-30073195-A-C | TRIM31 | c.884-176T>G | - | IntronicSNV | - | 6/8 |
1-27153958-G-C | ZDHHC18 | c.335+328G>C | - | IntronicSNV | - | 1/7 |
1-75598070-C-T | LHX8 | c.18+1653C>T | - | IntronicSNV | - | 2/9 |
5-82604046-G-A | XRCC4 | c.894-44904G>A | - | IntronicSNV | - | 7/7 |
3-13866802-C-T | WNT7A | c.571-5882G>A | - | IntronicSNV | - | 3/3 |
20-62373079-G-A | SLC2A4RG | c.392-143G>A | - | IntronicSNV | - | 3/7 |
11-61624181-T-C | FADS2 | c.745-302T>C | - | IntronicSNV | - | 5/11 |
2-209042853-T-C | C2orf80 | c.366+2616A>G | - | IntronicSNV | - | 6/8 |
10-50008287-G-T | WDFY4 | c.4411-3044G>T | - | IntronicSNV | - | 24/61 |
2-73300974-T-C | RAB11FIP5 | c.*1675A>G | - | 3-UTRSNV | 5/5 | - |
18-34185191-A-G | FHOD3 | c.813+2460A>G | - | IntronicSNV | - | 8/24 |
16-89954651-C-G | TCF25 | c.614+526C>G | - | IntronicSNV | - | 5/17 |
16-89906937-T-C | SPIRE2 | c.245-4793T>C | - | IntronicSNV | - | 1/14 |
16-89906937-T-A | SPIRE2 | c.245-4793T>A | - | IntronicSNV | - | 1/14 |
1-232079019-A-G | DISC1 | c.1982-15555A>G | - | IntronicSNV | - | 9/12 |
11-61581656-G-A | FADS1 | c.376-831C>T | - | IntronicSNV | - | 1/11 |
17-77133715-G-T | RBFOX3 | c.1-21918C>A | - | IntronicSNV | - | 4/14 |
17-77133715-G-A | RBFOX3 | c.1-21918C>T | - | IntronicSNV | - | 4/14 |
2-120250271-C-T | SCTR | c.193+1733G>A | - | IntronicSNV | - | 2/12 |
10-50008287-G-A | WDFY4 | c.4411-3044G>A | - | IntronicSNV | - | 24/61 |
1-95506188-C-A | ALG14 | c.289-13372G>T | - | IntronicSNV | - | 2/3 |
1-155505967-G-A | ASH1L | c.1-14657C>T | - | IntronicSNV | - | 1/27 |
2-170201843-G-A | LRP2 | c.79+16988C>T | - | IntronicSNV | - | 1/78 |
16-89826342-C-T | FANCA | c.2853-1229G>A | - | IntronicSNV | - | 29/42 |
19-46172278-G-A | GIPR | c.1-501G>A | - | IntronicSNV | - | 1/13 |
16-89912000-C-T | SPIRE2 | c.288+227C>T | - | IntronicSNV | - | 2/14 |
11-61569830-C-T | FADS1 | c.*53G>A | - | 3-UTRSNV | 12/12 | - |
20-62333115-G-T | ARFRP1 | c.417+67C>A | - | IntronicSNV | - | 6/6 |
20-62333115-G-C | ARFRP1 | c.417+67C>G | - | IntronicSNV | - | 6/6 |
5-128331222-A-G | SLC27A6 | c.969+5065A>G | - | IntronicSNV | - | 5/10 |
17-4379953-C-T | SPNS3 | c.1114-1914C>T | - | IntronicSNV | - | 8/11 |
16-89948985-A-G | TCF25 | c.193-774A>G | - | IntronicSNV | - | 1/17 |
11-131904225-G-A | NTM | c.168-111951G>A | - | IntronicSNV | - | 1/6 |
6-26184102-G-A | HIST1H2BE | c.79G>A | p.Gly27Ser | Missense | 1/1 | - |
3-196931821-T-C | DLG1 | c.319-10361A>G | - | IntronicSNV | - | 4/25 |
20-24973005-C-T | APMAP | c.95+225G>A | - | IntronicSNV | - | 1/8 |
2-71355511-G-A | MCEE | c.40+1799C>T | - | IntronicSNV | - | 1/2 |
4-1304277-G-A | MAEA | c.70-1490G>A | - | IntronicSNV | - | 1/7 |
6-135263557-C-T | ALDH8A1 | c.432G>A | p.Pro144Pro | Synonymous | 3/6 | - |
17-73774841-G-A | H3F3B | c.283-37C>T | - | IntronicSNV | - | 3/3 |
16-89932931-C-G | SPIRE2 | c.1779-1666C>G | - | IntronicSNV | - | 12/14 |
17-73774841-G-C | H3F3B | c.283-37C>G | - | IntronicSNV | - | 3/3 |
6-135268196-A-G | ALDH8A1 | c.138+2858T>C | - | IntronicSNV | - | 1/5 |
3-40576048-A-G | ZNF621 | c.*1467A>G | - | 3-UTRSNV | 5/5 | - |
9-86319690-G-A | UBQLN1 | c.180+2725C>T | - | IntronicSNV | - | 1/10 |
9-26936515-C-A | PLAA | c.150-1311G>T | - | IntronicSNV | - | 1/13 |
3-127979112-A-G | EEFSEC | c.525-1859A>G | - | IntronicSNV | - | 2/6 |
9-4845520-A-C | RCL1 | c.867+839A>C | - | IntronicSNV | - | 7/8 |
8-104454946-G-A | DCAF13 | c.1251-77G>A | - | intron_variant | - | 10/10 |
6-144996435-A-G | UTRN | c.7480-3107A>G | - | IntronicSNV | - | 50/73 |
1-8928811-C-T | ENO1 | c.241-695G>A | - | IntronicSNV | - | 4/11 |
16-89976224-G-A | TCF25 | c.1800-775G>A | - | IntronicSNV | - | 16/17 |
4-141553791-G-A | TBC1D9 | c.2746+1311C>T | - | IntronicSNV | - | 16/20 |
4-111026927-C-T | ELOVL6 | c.90-143G>A | - | IntronicSNV | - | 1/3 |
1-8485904-T-C | RERE | c.1204-3037A>G | - | IntronicSNV | - | 11/22 |
3-169276415-C-T | MECOM | c.37+104709G>A | - | IntronicSNV | - | 1/16 |
11-46900659-G-A | LRP4 | c.3004+18C>T | - | IntronicSNV | - | 21/37 |
19-54784504-C-T | LILRB2 | c.1-153G>A | - | IntronicSNV | 1/14 | - |
16-89995088-G-C | TUBB3 | c.58-3891G>C | - | IntronicSNV | - | 1/3 |
9-139789556-A-C | TRAF2 | c.1-3637A>C | - | IntronicSNV | - | 1/10 |
8-31921915-T-C | NRG1 | c.37+424968T>C | - | IntronicSNV | - | 1/11 |
1-79094081-T-A | IFI44L | c.478+3T>A | - | IntronicSNV | - | 2/8 |
6-135344378-C-T | HBS1L | c.304+16333G>A | - | IntronicSNV | - | 3/16 |
1-55225089-C-T | PARS2 | c.1-255G>A | - | IntronicSNV | - | 1/1 |
2-37152138-G-A | STRN | c.338+110C>T | - | IntronicSNV | - | 2/17 |
22-34144823-A-G | LARGE1 | c.106+12535T>C | - | IntronicSNV | - | 2/14 |
17-3474660-G-A | TRPV1 | c.2347+158C>T | - | IntronicSNV | - | 15/15 |
3-127898606-G-A | EEFSEC | c.316+25940G>A | - | IntronicSNV | - | 1/6 |
3-19996807-G-T | RAB5A | c.163+4254G>T | - | IntronicSNV | - | 2/5 |
3-188405985-C-T | LPP | c.1114-20070C>T | - | IntronicSNV | - | 6/10 |
16-89965055-G-C | TCF25 | c.1113G>C | p.Leu371Leu | Synonymous | 10/18 | - |
16-89950299-G-C | TCF25 | c.354+379G>C | - | IntronicSNV | - | 2/17 |
16-89965055-G-A | TCF25 | c.1113G>A | p.Leu371Leu | Synonymous | 10/18 | - |
16-88770010-G-A | RNF166 | c.156-2184C>T | - | IntronicSNV | - | 1/5 |
1-16381816-C-T | CLCNKB | c.1757-114C>T | - | IntronicSNV | - | 16/19 |
16-89965825-G-C | TCF25 | c.1221+545G>C | - | IntronicSNV | - | 11/17 |
15-26890848-C-T | GABRB3 | c.241-24167G>A | - | IntronicSNV | - | 3/8 |
15-26890848-C-A | GABRB3 | c.241-24167G>T | - | IntronicSNV | - | 3/8 |
13-100621776-G-C | ZIC5 | c.1549+605C>G | - | IntronicSNV | - | 1/1 |
13-72435105-C-T | DACH1 | c.854+4949G>A | - | IntronicSNV | - | 1/6 |
13-72435105-C-A | DACH1 | c.854+4949G>T | - | IntronicSNV | - | 1/6 |
19-12638887-T-C | ZNF564 | c.192-157A>G | - | IntronicSNV | - | 3/3 |
16-89972416-C-A | TCF25 | c.1629-186C>A | - | IntronicSNV | - | 14/17 |
15-31901313-A-C | OTUD7A | c.152-38913T>G | - | IntronicSNV | - | 4/13 |
11-12284068-C-T | MICAL2 | c.*1C>T | - | 3-UTRSNV | - | 27/27 |
13-111856885-G-A | ARHGEF7 | c.316-751G>A | - | IntronicSNV | - | 3/19 |
12-125449798-C-T | DHX37 | c.1736-246G>A | - | IntronicSNV | - | 13/26 |
15-52536273-G-A | MYO5C | c.2390+280C>T | - | IntronicSNV | - | 19/40 |
7-104858809-G-A | SRPK2 | c.39-14577C>T | - | IntronicSNV | - | 1/14 |
X-71695388-C-G | HDAC8 | c.738-10807G>C | - | IntronicSNV | - | 7/10 |
6-135268272-A-G | ALDH8A1 | c.138+2782T>C | - | IntronicSNV | - | 1/5 |
5-156893422-G-A | NIPAL4 | c.464-635G>A | - | IntronicSNV | - | 2/5 |
20-24973005-C-G | APMAP | c.95+225G>C | - | IntronicSNV | - | 1/8 |
4-3529671-C-A | LRPAP1 | c.205-2893G>T | - | IntronicSNV | - | 1/7 |
9-86242383-C-A | IDNK | c.51-713C>A | - | IntronicSNV | - | 1/4 |
9-86242383-C-G | IDNK | c.51-713C>G | - | IntronicSNV | - | 1/4 |
7-150651816-G-A | KCNH2 | c.1129-1875C>T | - | IntronicSNV | - | 5/14 |
X-10157009-G-A | CLCN4 | c.1-5980G>A | - | IntronicSNV | - | 2/10 |
X-10157009-G-C | CLCN4 | c.1-5980G>C | - | IntronicSNV | - | 2/10 |
11-61719026-G-A | BEST1 | c.1-253G>A | - | IntronicSNV | - | 1/10 |
12-122675576-C-T | LRRC43 | c.347-351C>T | - | IntronicSNV | - | 5/11 |
11-61575158-A-G | FADS1 | c.916-962T>C | - | IntronicSNV | - | 5/11 |
11-61575158-A-T | FADS1 | c.916-962T>A | - | IntronicSNV | - | 5/11 |
1-1559418-G-A | MIB2 | c.593+93G>A | - | intron_variant | - | 4/19 |
22-34131153-C-T | LARGE1 | c.106+26205G>A | - | IntronicSNV | - | 2/14 |
11-32455853-G-T | WT1 | c.661+393C>A | - | intron_variant | - | 1/8 |
12-132381696-C-T | ULK1 | c.246+1327C>T | - | IntronicSNV | - | 3/27 |
12-112546345-G-A | NAA25 | c.58+175C>T | - | IntronicSNV | - | 1/23 |
3-132432857-T-C | NPHP3 | c.958-727A>G | - | IntronicSNV | - | 5/26 |
6-136247274-C-G | PDE7B | c.22-21328C>G | - | IntronicSNV | - | 1/12 |
10-47664113-C-T | ANTXRL | c.320+748C>T | - | IntronicSNV | - | 2/16 |
22-30038152-A-C | NF2 | c.364-39A>C | - | IntronicSNV | - | 3/15 |
9-8729288-C-T | PTPRD | c.64+4492G>A | - | IntronicSNV | - | 1/29 |
8-144563803-G-A | ZC3H3 | c.1716-6048C>T | - | IntronicSNV | - | 4/11 |
16-89896834-G-A | SPIRE2 | c.244+1632G>A | - | IntronicSNV | - | 1/14 |
12-125308963-C-T | SCARB1 | c.127-6710G>A | - | IntronicSNV | - | 1/12 |
1-22447316-A-G | WNT4 | c.589-306T>C | - | IntronicSNV | - | 4/4 |
5-58337549-C-T | PDE4D | c.809-2751G>A | - | IntronicSNV | - | 5/14 |
16-82848208-A-G | CDH13 | c.46-43759A>G | - | IntronicSNV | - | 1/13 |
20-20048908-A-C | CFAP61 | c.144-2590A>C | - | IntronicSNV | - | 2/26 |
20-742716-A-C | SLC52A3 | c.1074-248T>G | - | IntronicSNV | - | 3/4 |
3-71726259-T-C | EIF4E3 | c.*7574A>G | - | IntergenicSNV | 8/8 | - |
7-120058853-C-A | KCND2 | c.1115+143052C>A | - | IntronicSNV | - | 1/5 |
1-232079048-T-C | DISC1 | c.1982-15526T>C | - | IntronicSNV | - | 9/12 |
11-122587016-G-A | UBASH3B | c.162-59911G>A | - | IntronicSNV | - | 1/13 |
2-39541014-G-A | MAP4K3 | c.997+1437C>T | - | IntronicSNV | - | 13/33 |
17-73091029-G-A | SLC16A5 | c.199+1099G>A | - | IntronicSNV | - | 3/6 |
4-143461480-T-C | INPP4B | c.-289-72272A>G | - | intron_variant | - | 2/26 |
4-3526786-C-G | LRPAP1 | c.205-8G>C | - | IntronicSNV | - | 1/7 |
2-29122001-G-T | WDR43 | c.226-2852G>T | - | IntronicSNV | - | 1/17 |
4-3526786-C-T | LRPAP1 | c.205-8G>A | - | IntronicSNV | - | 1/7 |
9-26942825-C-T | PLAA | c.149+4070G>A | - | IntronicSNV | - | 1/13 |
22-29903207-C-T | THOC5 | c.*1239G>A | - | IntergenicSNV | 20/20 | - |
22-29903207-C-G | THOC5 | c.*1239G>C | - | IntergenicSNV | 20/20 | - |
20-60338514-C-T | CDH4 | c.397-9545C>T | - | IntronicSNV | - | 3/15 |
16-89713563-C-G | CHMP1A | c.381+48G>C | - | IntronicSNV | - | 5/6 |
6-135371148-C-T | HBS1L | c.109+572G>A | - | IntronicSNV | - | 2/16 |
6-135358916-G-A | HBS1L | c.304+1795C>T | - | IntronicSNV | - | 3/16 |
2-97452416-C-T | CNNM4 | c.1403-10333C>T | - | IntronicSNV | - | 1/6 |
4-72352039-C-T | SLC4A4 | c.1772-626C>T | - | IntronicSNV | - | 11/22 |
5-172447762-G-A | ATP6V0E1 | c.*428G>A | - | IntronicSNV | - | 3/3 |
6-38689430-A-G | DNAH8 | c.1-1156A>G | - | IntronicSNV | - | 1/92 |
12-4467921-A-T | TIGAR | c.*6064A>T | - | 3-UTRSNV | 6/6 | - |
8-106708044-A-G | ZFPM2 | c.532+61459A>G | - | IntronicSNV | - | 5/7 |
12-4467921-A-C | TIGAR | c.*6064A>C | - | 3-UTRSNV | 6/6 | - |
7-89858750-C-T | STEAP2 | c.1021-436C>T | - | IntronicSNV | - | 3/4 |
16-89930129-G-T | SPIRE2 | c.1711-73G>T | - | IntronicSNV | - | 11/14 |
16-89930129-G-C | SPIRE2 | c.1711-73G>C | - | IntronicSNV | - | 11/14 |
22-42280135-G-A | SREBF2 | c.2039-711G>A | - | IntronicSNV | - | 10/18 |
6-135360046-C-T | HBS1L | c.304+665G>A | - | IntronicSNV | - | 3/16 |
17-72957007-A-T | HID1 | c.729-664T>A | - | IntronicSNV | - | 6/18 |
2-73271315-C-T | SFXN5 | c.172-3255G>A | - | IntronicSNV | - | 2/13 |
9-95370321-G-A | CENPP | c.565-3275G>A | - | IntronicSNV | - | 5/7 |
6-31667713-C-A | ABHD16A | c.244+1006G>T | - | IntronicSNV | - | 2/17 |
17-72957007-A-C | HID1 | c.729-664T>G | - | IntronicSNV | - | 6/18 |
4-72340431-A-G | SLC4A4 | c.1771+1744A>G | - | IntronicSNV | - | 11/22 |
8-86358107-G-T | CA3 | c.508-264G>T | - | IntronicSNV | - | 5/6 |
2-29140711-G-A | WDR43 | c.747-48G>A | - | IntronicSNV | - | 5/17 |
14-94424289-A-C | ASB2 | c.207-1073T>G | - | IntronicSNV | - | 2/9 |
2-64368896-C-T | PELI1 | c.-70+2319G>A | - | intron_variant | - | 1/6 |
2-23726720-G-A | KLHL29 | c.-46+28183G>A | - | intron_variant | - | 2/13 |
6-29911005-G-A | HLA-A | c.344-40G>A | - | IntronicSNV | - | 2/7 |
6-29910865-C-G | HLA-A | c.343+62C>G | - | IntronicSNV | - | 2/7 |
2-23726720-G-T | KLHL29 | c.-46+28183G>T | - | intron_variant | - | 2/13 |
16-89975638-A-G | TCF25 | c.1800-1361A>G | - | IntronicSNV | - | 16/17 |
4-72382775-T-A | SLC4A4 | c.2035-15004T>A | - | IntronicSNV | - | 13/22 |
11-61513400-G-A | DAGLA | c.*1439G>A | - | 3-UTRSNV | 20/20 | - |
7-150658199-T-C | KCNH2 | c.308-1375A>G | - | IntronicSNV | - | 2/14 |
4-72382775-T-C | SLC4A4 | c.2035-15004T>C | - | IntronicSNV | - | 13/22 |
5-167726313-C-G | WWC1 | c.119+7037C>G | - | IntronicSNV | - | 1/22 |
6-135249046-G-C | ALDH8A1 | c.861+1146C>G | - | IntronicSNV | - | 5/5 |
16-85836256-T-C | COX4I1 | c.73+1372T>C | - | IntronicSNV | - | 2/4 |
2-36776555-G-T | CRIM1 | c.*711G>T | - | 3-UTRSNV | 17/17 | - |
1-155407096-C-T | ASH1L | c.5828+1022G>A | - | IntronicSNV | - | 5/27 |
1-36276399-C-T | AGO4 | c.19+2363C>T | - | IntronicSNV | - | 1/17 |
1-180167644-T-C | QSOX1 | c.*1472T>C | - | IntergenicSNV | 12/12 | - |
1-16381792-T-A | CLCNKB | c.1757-138T>A | - | IntronicSNV | - | 16/19 |
11-61605499-T-A | FADS2 | c.318+139T>A | - | IntronicSNV | - | 2/11 |
7-105612901-A-G | CDHR3 | c.47-2389A>G | - | IntronicSNV | - | 1/18 |
6-135354094-G-T | HBS1L | c.304+6617C>A | - | IntronicSNV | - | 3/16 |
11-131878375-G-A | NTM | c.167+96833G>A | - | IntronicSNV | - | 1/6 |
1-204847915-G-A | NFASC | c.-199-41845G>A | - | intron_variant | - | 1/29 |
16-89899055-T-C | SPIRE2 | c.244+3853T>C | - | IntronicSNV | - | 1/14 |
5-58333316-G-A | PDE4D | c.921+1370C>T | - | IntronicSNV | - | 6/14 |
10-28388150-G-A | MPP7 | c.953-9380C>T | - | IntronicSNV | - | 13/18 |
1-218582778-T-C | TGFB2 | c.510+4104T>C | - | IntronicSNV | - | 2/6 |
9-4856877-G-A | RCL1 | c.972-3248G>A | - | IntronicSNV | - | 8/8 |
11-61569306-C-A | FADS1 | c.*577G>T | - | 3-UTRSNV | 12/12 | - |
14-105993254-T-C | TMEM121 | c.-114+264T>C | - | intron_variant | - | 1/1 |
3-128182444-C-T | DNAJB8 | c.1-356G>A | - | 5-UTRSNV | 3/3 | - |
1-36820168-C-T | STK40 | c.571-151G>A | - | IntronicSNV | - | 6/11 |
2-71689050-C-A | DYSF | c.88+7834C>A | - | IntronicSNV | - | 1/54 |
17-73122167-T-C | ARMC7 | c.236-2605T>C | - | IntronicSNV | - | 2/2 |
1-11862214-T-C | MTHFR | c.236+724A>G | - | IntronicSNV | - | 2/11 |
6-135290923-A-G | HBS1L | c.1672-447T>C | - | IntronicSNV | - | 14/16 |
20-62372956-C-T | SLC2A4RG | c.391+124C>T | - | IntronicSNV | - | 3/7 |
22-43306694-T-C | PACSIN2 | c.60+1333A>G | - | IntronicSNV | - | 2/10 |
6-132690825-A-G | MOXD1 | c.663+2922T>C | - | IntronicSNV | - | 4/11 |
4-3522683-C-T | LRPAP1 | c.350-763G>A | - | IntronicSNV | - | 2/7 |
11-20647952-C-G | SLC6A5 | c.1261-302C>G | - | IntronicSNV | - | 7/15 |
11-61557803-T-C | TMEM258 | c.113+162A>G | - | IntronicSNV | - | 2/3 |
11-20647952-C-T | SLC6A5 | c.1261-302C>T | - | IntronicSNV | - | 7/15 |
11-20647952-C-A | SLC6A5 | c.1261-302C>A | - | IntronicSNV | - | 7/15 |
6-148707649-C-T | SASH1 | c.157-3621C>T | - | IntronicSNV | - | 1/19 |
11-61603237-C-T | FADS2 | c.208-2013C>T | - | IntronicSNV | - | 1/11 |
3-120126602-A-G | FSTL1 | c.462+1777T>C | - | IntronicSNV | - | 6/10 |
10-97414303-C-T | ALDH18A1 | c.1-1169G>A | - | IntronicSNV | - | 1/17 |
12-111892685-T-C | ATXN2 | c.3265-1036A>G | - | intron_variant | - | 23/24 |
12-112254941-C-T | ALDH2 | c.*7562C>T | - | IntergenicSNV | 13/13 | - |
3-9252998-C-T | SRGAP3 | c.67+37571G>A | - | IntronicSNV | - | 1/21 |
12-119790114-G-A | CCDC60 | c.90+17043G>A | - | IntronicSNV | - | 1/13 |
6-135312723-A-G | HBS1L | c.957+2173T>C | - | IntronicSNV | - | 7/16 |
4-16705698-T-C | LDB2 | c.235+55083A>G | - | IntronicSNV | - | 2/8 |
16-89900495-C-T | SPIRE2 | c.244+5293C>T | - | IntronicSNV | - | 1/14 |
4-72380633-T-C | SLC4A4 | c.2035-17146T>C | - | IntronicSNV | - | 13/22 |
16-89959647-A-G | TCF25 | c.698-489A>G | - | IntronicSNV | - | 6/17 |
7-6169741-G-T | USP42 | c.443-5731G>T | - | IntronicSNV | - | 3/17 |
16-89932931-C-T | SPIRE2 | c.1779-1666C>T | - | IntronicSNV | - | 12/14 |
11-44762899-T-G | TSPAN18 | c.-240+14062T>G | - | intron_variant | - | 1/9 |
5-58333808-C-T | PDE4D | c.921+878G>A | - | IntronicSNV | - | 6/14 |
6-135314283-C-T | HBS1L | c.957+613G>A | - | IntronicSNV | - | 7/16 |
3-195266554-A-C | PPP1R2 | c.122+3173T>G | - | IntronicSNV | - | 1/5 |
10-7346152-T-C | SFMBT2 | c.437-18236A>G | - | IntronicSNV | - | 4/20 |
9-77149837-A-G | RORB | c.7+36938A>G | - | IntronicSNV | - | 1/9 |
3-3203504-A-G | CRBN | c.688-5539T>C | - | IntronicSNV | - | 5/10 |
7-137342116-C-T | DGKI | c.607-830G>A | - | IntronicSNV | - | 3/33 |
9-5232409-G-C | INSL4 | c.196+690G>C | - | IntronicSNV | - | 1/1 |
21-43362204-T-C | C2CD2 | c.378+52A>G | - | IntronicSNV | - | 2/13 |
11-61603510-C-T | FADS2 | c.208-1740C>T | - | IntronicSNV | - | 1/11 |
11-61603510-C-A | FADS2 | c.208-1740C>A | - | IntronicSNV | - | 1/11 |
16-89993206-A-G | TUBB3 | c.57+3340A>G | - | IntronicSNV | - | 1/3 |
14-105844400-C-G | PACS2 | c.959+1138C>G | - | IntronicSNV | - | 9/24 |
1-35739901-G-C | ZMYM4 | c.39+5215G>C | - | IntronicSNV | - | 1/29 |
9-4855858-A-C | RCL1 | c.972-4267A>C | - | IntronicSNV | - | 8/8 |
17-36975042-C-T | CWC25 | c.191+2112G>A | - | IntronicSNV | - | 2/9 |
6-159619866-G-A | FNDC1 | c.305-1162G>A | - | IntronicSNV | - | 2/22 |
2-71647740-G-C | ZNF638 | c.3299+1971G>C | - | IntronicSNV | - | 21/27 |
10-33528887-G-A | NRP1 | c.982-13670C>T | - | IntronicSNV | - | 6/11 |
2-73335844-G-C | RAB11FIP5 | c.431+3631C>G | - | IntronicSNV | - | 1/4 |
9-132939792-G-A | NCS1 | c.64+4786G>A | - | IntronicSNV | - | 1/7 |
15-86725296-T-C | AGBL1 | c.488+23039T>C | - | intron_variant | - | 5/24 |
1-8640831-G-C | RERE | c.523-23249C>G | - | IntronicSNV | - | 4/22 |
9-132939792-G-C | NCS1 | c.64+4786G>C | - | IntronicSNV | - | 1/7 |
6-33547440-G-C | BAK1 | c.-32+362C>G | - | intron_variant | - | 1/5 |
20-40888123-C-T | PTPRT | c.2177-10661G>A | - | IntronicSNV | - | 13/30 |
12-32846930-T-C | DNM1L | c.103-7419T>C | - | IntronicSNV | - | 1/19 |
10-79272764-C-T | KCNMA1 | c.379-108983G>A | - | IntronicSNV | - | 1/26 |
9-139260463-C-T | CARD9 | c.1357+789G>A | - | IntronicSNV | - | 10/12 |
2-170201439-C-G | LRP2 | c.79+17392G>C | - | IntronicSNV | - | 1/78 |
11-44749634-T-G | TSPAN18 | c.-240+797T>G | - | intron_variant | - | 1/9 |
5-58333160-A-C | PDE4D | c.921+1526T>G | - | IntronicSNV | - | 6/14 |
10-50820693-G-T | SLC18A3 | c.*308G>T | - | 3-UTRSNV | 1/1 | - |
5-156926983-C-T | ADAM19 | c.1309-313G>A | - | IntronicSNV | - | 12/22 |
10-47680481-G-T | ANTXRL | c.1134+43G>T | - | IntronicSNV | - | 13/16 |
2-170204846-C-T | LRP2 | c.79+13985G>A | - | IntronicSNV | - | 1/78 |
10-47680481-G-A | ANTXRL | c.1134+43G>A | - | IntronicSNV | - | 13/16 |
10-25791510-G-A | GPR158 | c.1404+35862G>A | - | IntronicSNV | - | 5/10 |
16-89901767-G-A | SPIRE2 | c.244+6565G>A | - | IntronicSNV | - | 1/14 |
20-57043127-C-G | APCDD1L | c.189-413G>C | - | IntronicSNV | - | 2/3 |
10-25791510-G-T | GPR158 | c.1404+35862G>T | - | IntronicSNV | - | 5/10 |
22-23480925-G-A | RSPH14 | c.302+102C>T | - | IntronicSNV | - | 3/6 |
16-89950901-G-A | TCF25 | c.355-89G>A | - | IntronicSNV | - | 2/17 |
4-99921044-C-A | METAP1 | c.114+4026C>A | - | IntronicSNV | - | 1/10 |
16-89733613-C-A | SPATA33 | c.209-2081C>A | - | IntronicSNV | - | 2/2 |
19-3021142-C-T | TLE2 | c.295-1371G>A | - | IntronicSNV | - | 5/19 |
19-3021142-C-A | TLE2 | c.295-1371G>T | - | IntronicSNV | - | 5/19 |
10-121064720-A-C | GRK5 | c.53-21308A>C | - | IntronicSNV | - | 1/15 |
19-3021142-C-G | TLE2 | c.295-1371G>C | - | IntronicSNV | - | 5/19 |
20-39767744-T-C | PLCG1 | c.217+1246T>C | - | IntronicSNV | - | 1/31 |
16-89998157-G-A | TUBB3 | c.58-822G>A | - | IntronicSNV | - | 1/3 |
3-132052499-C-T | ACPP | c.456+1311C>T | - | IntronicSNV | - | 4/9 |
1-234252101-A-T | SLC35F3 | c.284-115062A>T | - | IntronicSNV | - | 2/7 |
13-111976482-G-A | TEX29 | c.58+3187G>A | - | IntronicSNV | - | 2/5 |
8-86378134-C-A | CA2 | c.232+436C>A | - | IntronicSNV | - | 2/6 |
16-1390545-A-C | BAIAP3 | c.409-378A>C | - | IntronicSNV | - | 5/32 |
5-122486419-C-T | PRDM6 | c.901-5159C>T | - | IntronicSNV | - | 3/7 |
16-89953773-A-G | TCF25 | c.549-287A>G | - | IntronicSNV | - | 4/17 |
16-89731073-A-G | SPATA33 | c.209-4621A>G | - | IntronicSNV | - | 2/2 |
1-23117460-C-T | EPHB2 | c.811+5891C>T | - | IntronicSNV | - | 3/15 |
16-89731073-A-T | SPATA33 | c.209-4621A>T | - | IntronicSNV | - | 2/2 |
12-2105855-C-A | DCP1B | c.191+1246G>T | - | IntronicSNV | - | 2/8 |
11-44880701-C-A | TSPAN18 | c.1-47267C>A | - | IntronicSNV | - | 2/9 |
7-6203848-G-A | CYTH3 | c.*727C>T | - | 3-UTRSNV | 13/13 | - |
16-89971909-A-T | TCF25 | c.1628+405A>T | - | IntronicSNV | - | 14/17 |
11-61604814-C-A | FADS2 | c.208-436C>A | - | IntronicSNV | - | 1/11 |
21-43362203-G-A | C2CD2 | c.378+53C>T | - | IntronicSNV | - | 2/13 |
14-105844400-C-T | PACS2 | c.959+1138C>T | - | IntronicSNV | - | 9/24 |
2-74725804-C-T | LBX2 | c.194-359G>A | - | IntronicSNV | - | 1/1 |
2-43015186-C-A | HAAO | c.159+483G>T | - | IntronicSNV | - | 2/9 |
6-38689506-T-C | DNAH8 | c.1-1080T>C | - | IntronicSNV | - | 1/92 |
6-38689506-T-A | DNAH8 | c.1-1080T>A | - | IntronicSNV | - | 1/92 |
3-13866499-G-A | WNT7A | c.571-5579C>T | - | IntronicSNV | - | 3/3 |
1-6163213-A-T | CHD5 | c.*3127T>A | - | 3-UTRSNV | 42/42 | - |
16-89940536-G-A | TCF25 | c.192+269G>A | - | IntronicSNV | - | 1/17 |
1-6163213-A-G | CHD5 | c.*3127T>C | - | 3-UTRSNV | 42/42 | - |
9-5232299-G-A | INSL4 | c.196+580G>A | - | IntronicSNV | - | 1/1 |
3-132235044-A-C | DNAJC13 | c.5486-222A>C | - | IntronicSNV | - | 46/55 |
8-450006-C-T | TDRP | c.109-5409G>A | - | IntronicSNV | - | 2/3 |
1-67182563-T-C | SGIP1 | c.1631-2414T>C | - | IntronicSNV | - | 18/24 |
4-143439674-T-G | INPP4B | c.1-87262A>C | - | IntronicSNV | - | 2/26 |
6-135317789-T-C | HBS1L | c.839+126A>G | - | IntronicSNV | - | 6/16 |
3-30682939-G-T | TGFBR2 | c.170-3300G>T | - | IntronicSNV | - | 2/7 |
16-89702203-C-T | DPEP1 | c.105-113C>T | - | IntronicSNV | - | 2/10 |
3-7531243-G-A | GRM7 | c.1515+27834G>A | - | IntronicSNV | - | 7/9 |
6-135373534-G-T | HBS1L | c.44-1749C>A | - | IntronicSNV | - | 1/16 |
20-263011-T-G | C20orf96 | c.306+1593A>C | - | IntronicSNV | - | 4/10 |
7-105613007-C-G | CDHR3 | c.47-2283C>G | - | IntronicSNV | - | 1/18 |
7-156955449-T-C | UBE3C | c.67-1055T>C | - | IntronicSNV | - | 1/22 |
3-30682939-G-C | TGFBR2 | c.170-3300G>C | - | IntronicSNV | - | 2/7 |
6-43446795-C-T | TJAP1 | c.-177+825C>T | - | intron_variant | - | 2/9 |
4-72288762-A-G | SLC4A4 | c.676-17571A>G | - | IntronicSNV | - | 4/22 |
13-111973098-T-C | TEX29 | c.-46T>C | - | 5_prime_UTR_variant | 1/6 | - |
6-144915335-C-A | UTRN | c.7479+16911C>A | - | IntronicSNV | - | 50/73 |
6-149899981-T-C | GINM1 | c.301T>C | p.Leu101Leu | Synonymous | 4/8 | - |
16-89949205-G-A | TCF25 | c.193-554G>A | - | IntronicSNV | - | 1/17 |
8-106389304-T-A | ZFPM2 | c.41-42068T>A | - | IntronicSNV | - | 1/7 |
14-105268740-C-T | ZBTB42 | c.1206C>T | p.Ser402Ser | Synonymous | 1/1 | - |
11-61604782-A-T | FADS2 | c.208-468A>T | - | IntronicSNV | - | 1/11 |
16-89702653-C-T | DPEP1 | c.238-19C>T | - | IntronicSNV | - | 3/10 |
11-61616012-A-G | FADS2 | c.744+256A>G | - | IntronicSNV | - | 5/11 |
12-112563994-C-G | TRAFD1 | c.-13+572C>G | - | intron_variant | - | 1/11 |
3-108322812-T-C | DZIP3 | c.1-1442T>C | - | IntronicSNV | - | 1/32 |
12-112113850-T-A | BRAP | c.633+3105A>T | - | IntronicSNV | - | 4/11 |
8-82583771-G-T | IMPA1 | c.458-489C>A | - | IntronicSNV | - | 6/8 |
11-131921698-T-G | NTM | c.168-94478T>G | - | IntronicSNV | - | 1/6 |
1-8042826-G-T | PARK7 | c.410-2128G>T | - | IntronicSNV | - | 6/6 |
14-105268740-C-G | ZBTB42 | c.1206C>G | p.Ser402Ser | Synonymous | 1/1 | - |
6-135296835-T-C | HBS1L | c.1671+2982A>G | - | IntronicSNV | - | 14/16 |
16-89957635-T-C | TCF25 | c.615-966T>C | - | IntronicSNV | - | 5/17 |
12-112563994-C-T | TRAFD1 | c.-13+572C>T | - | intron_variant | - | 1/11 |
17-77133677-G-A | RBFOX3 | c.1-21880C>T | - | IntronicSNV | - | 4/14 |
1-235757228-C-T | GNG4 | c.1-10090G>A | - | IntronicSNV | - | 1/2 |
22-34160426-A-T | LARGE1 | c.1-2963T>A | - | IntronicSNV | - | 1/14 |
11-61571478-T-C | FADS1 | c.1054-239A>G | - | IntronicSNV | - | 7/11 |
6-135262502-G-A | ALDH8A1 | c.442+1045C>T | - | IntronicSNV | - | 3/5 |
11-120170030-A-G | POU2F3 | c.265-303A>G | - | IntronicSNV | - | 4/12 |
11-120170030-A-C | POU2F3 | c.265-303A>C | - | IntronicSNV | - | 4/12 |
9-116959423-C-G | COL27A1 | c.2124+1131C>G | - | IntronicSNV | - | 7/60 |
7-39241481-A-G | POU6F2 | c.191-2353A>G | - | IntronicSNV | - | 3/10 |
9-116959423-C-T | COL27A1 | c.2124+1131C>T | - | IntronicSNV | - | 7/60 |
3-7543129-C-T | GRM7 | c.1515+39720C>T | - | IntronicSNV | - | 7/9 |
19-43528428-A-G | PSG11 | c.430+415T>C | - | IntronicSNV | - | 2/5 |
12-217426-T-C | IQSEC3 | c.623+9046T>C | - | IntronicSNV | - | 2/13 |
11-61549025-G-A | MYRF | c.2660-20G>A | - | IntronicSNV | - | 20/25 |
8-32476845-G-A | NRG1 | c.388+4763G>A | - | IntronicSNV | - | 4/11 |
16-89958538-G-A | TCF25 | c.615-63G>A | - | IntronicSNV | - | 5/17 |
3-195245093-G-A | PPP1R2 | c.571+722C>T | - | IntronicSNV | - | 5/5 |
4-72277027-G-A | SLC4A4 | c.675+13657G>A | - | IntronicSNV | - | 4/22 |
7-39379431-G-A | POU6F2 | c.702G>A | p.Gln234Gln | Synonymous | 6/11 | - |
9-95524833-C-T | BICD2 | c.240+1954G>A | - | IntronicSNV | - | 1/7 |
4-72347491-A-G | SLC4A4 | c.1772-5174A>G | - | IntronicSNV | - | 11/22 |
3-108107951-C-T | MYH15 | c.5491-30G>A | - | IntronicSNV | - | 38/41 |
18-443747-C-T | COLEC12 | c.58+36960G>A | - | IntronicSNV | - | 2/9 |
16-89961140-C-A | TCF25 | c.829-306C>A | - | IntronicSNV | - | 7/17 |
19-56696094-T-C | GALP | c.296-490T>C | - | IntronicSNV | - | 5/5 |
19-56696094-T-G | GALP | c.296-490T>G | - | IntronicSNV | - | 5/5 |
22-31007023-A-T | TCN2 | c.230A>T | p.Lys77Met | Missense | 2/9 | - |
19-10661270-C-T | ATG4D | c.967-1303C>T | - | IntronicSNV | - | 6/9 |
11-2705343-A-T | KCNQ1 | c.1514+22032A>T | - | IntronicSNV | - | 11/15 |
4-72378062-G-T | SLC4A4 | c.2034+14653G>T | - | IntronicSNV | - | 13/22 |
9-95524833-C-A | BICD2 | c.240+1954G>T | - | IntronicSNV | - | 1/7 |
22-39926962-G-A | RPS19BP1 | c.182-1040C>T | - | IntronicSNV | - | 2/3 |
12-132397214-G-A | ULK1 | c.1097-529G>A | - | IntronicSNV | - | 13/27 |
4-99574380-A-G | TSPAN5 | c.81+4917T>C | - | IntronicSNV | - | 1/7 |
14-105996119-C-T | TMEM121 | c.948C>T | p.Pro316Pro | Synonymous | 2/2 | - |
11-61650926-C-T | FADS3 | c.214-3303G>A | - | IntronicSNV | - | 1/11 |
22-31007023-A-G | TCN2 | c.230A>G | p.Lys77Arg | Missense | 2/9 | - |
6-39670164-C-T | KIF6 | c.251+12304G>A | - | IntronicSNV | - | 3/22 |
9-612251-G-A | KANK1 | c.1-64722G>A | - | IntronicSNV | - | 1/11 |
3-176883323-A-G | TBL1XR1 | c.-122+31586T>C | - | intron_variant | - | 1/15 |
9-8728144-A-G | PTPRD | c.64+5636T>C | - | IntronicSNV | - | 1/29 |
12-125310305-G-A | SCARB1 | c.127-8052C>T | - | IntronicSNV | - | 1/12 |
6-135248689-T-A | ALDH8A1 | c.861+1503A>T | - | IntronicSNV | - | 5/5 |
16-89966357-T-A | TCF25 | c.1222-686T>A | - | IntronicSNV | - | 11/17 |
7-104741062-G-A | KMT2E | c.1723-810G>A | - | IntronicSNV | - | 14/25 |
7-93553527-C-T | GNG11 | c.97-1876C>T | - | IntronicSNV | - | 1/1 |
3-196006501-G-A | PCYT1A | c.-11+3845C>T | - | intron_variant | - | 2/9 |
6-29913386-C-G | HLA-A | c.*154C>G | - | 3-UTRSNV | 8/8 | - |
1-27153958-G-A | ZDHHC18 | c.335+328G>A | - | IntronicSNV | - | 1/7 |
8-86376401-G-C | CA2 | c.34+57G>C | - | IntronicSNV | - | 1/6 |
10-13711361-C-T | FRMD4A | c.1374+1045G>A | - | IntronicSNV | - | 17/24 |
X-33078480-G-A | DMD | c.32-40163C>T | - | IntronicSNV | - | 1/78 |
6-135264294-C-A | ALDH8A1 | c.287-592G>T | - | IntronicSNV | - | 2/5 |
10-17423398-G-A | ST8SIA6 | c.290+9132C>T | - | IntronicSNV | - | 3/7 |
16-89963289-C-G | TCF25 | c.1022+798C>G | - | IntronicSNV | - | 9/17 |
10-71079401-C-T | HK1 | c.63+635C>T | - | IntronicSNV | - | 1/17 |
15-40565705-G-C | BUB1B-PAK6 | c.1617+32G>C | - | IntronicSNV | - | 8/10 |
15-40565705-G-A | BUB1B-PAK6 | c.1617+32G>A | - | IntronicSNV | - | 8/10 |
11-61654092-C-A | FADS3 | c.213+4549G>T | - | IntronicSNV | - | 1/11 |
1-75598070-C-G | LHX8 | c.18+1653C>G | - | IntronicSNV | - | 2/9 |
16-89953066-G-C | TCF25 | c.548+692G>C | - | IntronicSNV | - | 4/17 |
7-39204792-C-G | POU6F2 | c.191-39042C>G | - | IntronicSNV | - | 3/10 |
6-135264294-C-T | ALDH8A1 | c.287-592G>A | - | IntronicSNV | - | 2/5 |
1-205893699-T-C | SLC26A9 | c.1390-82A>G | - | IntronicSNV | - | 12/20 |
4-141561949-C-A | TBC1D9 | c.2338-1367G>T | - | IntronicSNV | - | 13/20 |
15-66007972-A-T | DENND4A | c.1808-11T>A | - | IntronicSNV | - | 13/31 |
2-100576304-C-T | AFF3 | c.873+46790G>A | - | IntronicSNV | - | 6/23 |
11-61631690-T-C | FADS2 | c.1157+432T>C | - | IntronicSNV | - | 10/11 |
11-61543499-T-C | MYRF | c.1285-29T>C | - | IntronicSNV | - | 8/25 |
2-71577629-G-A | ZNF638 | c.1317+228G>A | - | IntronicSNV | - | 2/27 |
1-232549584-A-T | SIPA1L2 | c.4762+1656T>A | - | IntronicSNV | - | 17/20 |
15-40565705-G-T | BUB1B-PAK6 | c.1617+32G>T | - | IntronicSNV | - | 8/10 |
3-30682242-A-G | TGFBR2 | c.170-3997A>G | - | IntronicSNV | - | 2/7 |
16-88875478-C-T | CDT1 | c.*792C>T | - | 3-UTRSNV | 10/10 | - |
6-148707649-C-A | SASH1 | c.157-3621C>A | - | IntronicSNV | - | 1/19 |
16-89962394-A-G | TCF25 | c.929-4A>G | - | IntronicSNV | - | 8/17 |
16-89927265-C-T | SPIRE2 | c.1575+62C>T | - | IntronicSNV | - | 10/14 |
6-33547430-G-A | BAK1 | c.-32+372C>T | - | intron_variant | - | 1/5 |
3-195257650-C-T | PPP1R2 | c.123-948G>A | - | IntronicSNV | - | 1/5 |
3-195257650-C-A | PPP1R2 | c.123-948G>T | - | IntronicSNV | - | 1/5 |
X-69112094-A-C | EDA | c.397-64783A>C | - | IntronicSNV | - | 1/7 |
X-69112094-A-G | EDA | c.397-64783A>G | - | IntronicSNV | - | 1/7 |
11-61597972-A-G | FADS2 | c.207+1903A>G | - | IntronicSNV | - | 1/11 |
16-89733613-C-T | SPATA33 | c.209-2081C>T | - | IntronicSNV | - | 2/2 |
9-26942825-C-G | PLAA | c.149+4070G>C | - | IntronicSNV | - | 1/13 |
16-89949033-T-C | TCF25 | c.193-726T>C | - | IntronicSNV | - | 1/17 |
1-153977156-T-C | NUP210L | c.4931-2695A>G | - | IntronicSNV | - | 35/39 |