Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
18-35125314-A-G | CELF4 | c.286+20005T>C | - | IntronicSNV | - | 1/12 |
20-33496471-C-T | ACSS2 | c.375-4428C>T | - | IntronicSNV | - | 2/17 |
17-44146165-C-G | KANSL1 | c.1534-1132G>C | - | IntronicSNV | - | 4/14 |
1-8552219-G-A | RERE | c.1104+2904C>T | - | IntronicSNV | - | 10/22 |
7-126393382-T-C | GRM8 | c.1357+16537A>G | - | IntronicSNV | - | 7/10 |
7-127429287-C-G | SND1 | c.1153-18251C>G | - | IntronicSNV | - | 10/23 |
10-106454672-T-C | SORCS3 | c.627+52960T>C | - | IntronicSNV | - | 1/26 |
10-106454672-T-G | SORCS3 | c.627+52960T>G | - | IntronicSNV | - | 1/26 |
20-33151545-G-T | PIGU | c.1195-2762C>A | - | IntronicSNV | - | 11/11 |
20-33151545-G-A | PIGU | c.1195-2762C>T | - | IntronicSNV | - | 11/11 |
9-96368536-C-T | PHF2 | c.99-23716C>T | - | IntronicSNV | - | 1/21 |
9-135301389-T-G | CFAP77 | c.195+15536T>G | - | IntronicSNV | - | 1/6 |
22-41700203-C-T | ZC3H7B | c.-7+2427C>T | - | intron_variant | - | 1/22 |
9-96361922-G-A | PHF2 | c.98+22769G>A | - | IntronicSNV | - | 1/21 |
9-126435819-A-T | DENND1A | c.373-2169T>A | - | IntronicSNV | - | 6/20 |
17-79089590-A-G | BAIAP2 | c.1556A>G | p.Gln519Arg | Missense | 14/14 | - |
3-49537712-G-A | DAG1 | c.-117+7306G>A | - | intron_variant | - | 4/5 |
3-49537712-G-T | DAG1 | c.-117+7306G>T | - | intron_variant | - | 4/5 |
6-32189032-T-C | NOTCH4 | c.522A>G | p.Thr174Thr | Synonymous | 4/30 | - |
1-8432136-C-T | RERE | c.1285-6102G>A | - | IntronicSNV | - | 12/22 |
9-96419085-G-A | PHF2 | c.1147+208G>A | - | IntronicSNV | - | 9/21 |
9-96419085-G-C | PHF2 | c.1147+208G>C | - | IntronicSNV | - | 9/21 |
20-18656546-A-G | DTD1 | c.477+47669A>G | - | IntronicSNV | - | 4/5 |
12-110010151-A-G | MMAB | c.135-636T>C | - | IntronicSNV | - | 1/8 |
3-49572140-A-G | DAG1 | c.*1508A>G | - | 3-UTRSNV | 6/6 | - |
17-44070956-T-A | MAPT | c.1507+2004T>A | - | IntronicSNV | - | 9/13 |
9-28697427-T-C | LINGO2 | c.-446+21672A>G | - | intron_variant | - | 1/6 |
10-104824199-A-G | CNNM2 | c.2074-4187A>G | - | IntronicSNV | - | 4/7 |
9-96393807-A-G | PHF2 | c.184+1470A>G | - | IntronicSNV | - | 2/21 |
11-47495746-G-T | CELF1 | c.1178-963C>A | - | IntronicSNV | - | 11/13 |
14-75240090-A-G | YLPM1 | c.874-5060A>G | - | IntronicSNV | - | 1/20 |
7-127595573-C-T | SND1 | c.1669+26191C>T | - | IntronicSNV | - | 15/23 |
22-41607065-C-G | L3MBTL2 | c.262+1128C>G | - | IntronicSNV | - | 2/16 |
17-44084676-C-T | MAPT | c.1774-3000C>T | - | IntronicSNV | - | 10/13 |
14-75322327-A-G | PROX2 | c.928-322T>C | - | IntronicSNV | - | 2/2 |
1-75930314-G-A | SLC44A5 | c.14-68008C>T | - | IntronicSNV | - | 2/23 |
9-96399184-G-A | PHF2 | c.299+377G>A | - | IntronicSNV | - | 3/21 |
7-126292775-A-G | GRM8 | c.1358-43223T>C | - | IntronicSNV | - | 7/10 |
12-110017125-T-A | MVK | c.227-482T>A | - | IntronicSNV | - | 3/10 |
2-24114729-G-T | ATAD2B | c.369-3460C>A | - | IntronicSNV | - | 2/27 |
12-118762236-T-G | TAOK3 | c.-194+48217A>C | - | intron_variant | - | 1/20 |
5-139646962-A-G | PFDN1 | c.285+14072T>C | - | IntronicSNV | - | 3/3 |
9-127847051-G-C | SCAI | c.99-18714C>G | - | IntronicSNV | - | 2/18 |
11-112892274-G-A | NCAM1 | c.52+59888G>A | - | intron_variant | - | 2/19 |
17-44116950-T-G | KANSL1 | c.2203+118A>C | - | IntronicSNV | - | 8/14 |
4-90713064-G-A | SNCA | c.306+30333C>T | - | IntronicSNV | - | 4/5 |
17-44226126-A-T | KANSL1 | c.1289+22095T>A | - | IntronicSNV | - | 2/14 |
17-44226126-A-C | KANSL1 | c.1289+22095T>G | - | IntronicSNV | - | 2/14 |
3-52974152-C-T | SFMBT1 | c.364+3217G>A | - | IntronicSNV | - | 4/20 |
11-113286501-A-T | DRD2 | c.533-168T>A | - | IntronicSNV | - | 4/7 |
1-72741382-T-G | NEGR1 | c.176+6620A>C | - | IntronicSNV | - | 1/6 |
17-43901001-C-T | CRHR1 | c.327+2195C>T | - | IntronicSNV | - | 4/13 |
11-13300540-G-T | ARNTL | c.-263+1070G>T | - | intron_variant | - | 1/19 |
17-44050395-C-A | MAPT | c.220+1084C>A | - | IntronicSNV | - | 3/13 |
17-44089108-T-C | MAPT | c.1866+1340T>C | - | IntronicSNV | - | 11/13 |
9-96384524-G-T | PHF2 | c.99-7728G>T | - | IntronicSNV | - | 1/21 |
16-7654531-A-T | RBFOX1 | c.683-2756A>T | - | IntronicSNV | - | 6/12 |
6-32032743-G-C | TNXB | c.6696C>G | p.Asp2232Glu | Missense | 19/44 | - |
17-44229986-T-C | KANSL1 | c.1289+18235A>G | - | IntronicSNV | - | 2/14 |
17-44265702-A-T | KANSL1 | c.-90+4487T>A | - | intron_variant | - | 1/14 |
1-8531111-A-G | RERE | c.1105-5028T>C | - | IntronicSNV | - | 10/22 |
1-8531111-A-T | RERE | c.1105-5028T>A | - | IntronicSNV | - | 10/22 |
16-7662707-A-G | RBFOX1 | c.736+5367A>G | - | IntronicSNV | - | 7/12 |
1-8501786-A-G | RERE | c.1204-18919T>C | - | IntronicSNV | - | 11/22 |
11-47346940-G-A | MADD | c.4413+812G>A | - | IntronicSNV | - | 30/32 |
11-113138921-C-T | NCAM1 | c.2102-1989C>T | - | intron_variant | - | 17/19 |
11-47391745-G-A | SPI1 | c.142+5439C>T | - | IntronicSNV | - | 2/4 |
6-31473957-C-G | MICB | c.363C>G | p.Ile121Met | Missense | 3/6 | - |
11-112850770-G-C | NCAM1 | c.52+18384G>C | - | intron_variant | - | 2/19 |
11-113265292-T-C | ANKK1 | c.481-359T>C | - | IntronicSNV | - | 2/7 |
10-104659018-G-T | AS3MT | c.1021-1332G>T | - | IntronicSNV | - | 10/10 |
11-47008379-A-G | C11orf49 | c.47-380A>G | - | IntronicSNV | - | 1/8 |
11-47186424-C-A | ARFGAP2 | c.*609G>T | - | 3-UTRSNV | 16/16 | - |
11-47186424-C-T | ARFGAP2 | c.*609G>A | - | 3-UTRSNV | 16/16 | - |
20-18513532-C-T | SEC23B | c.1314+144C>T | - | IntronicSNV | - | 11/19 |
1-8531326-A-G | RERE | c.1105-5243T>C | - | IntronicSNV | - | 10/22 |
11-112898428-A-T | NCAM1 | c.52+66042A>T | - | intron_variant | - | 2/19 |
9-28579576-T-C | LINGO2 | c.-365+90622A>G | - | intron_variant | - | 2/6 |
7-126415469-A-G | GRM8 | c.1157-5350T>C | - | IntronicSNV | - | 6/10 |
9-28579576-T-A | LINGO2 | c.-365+90622A>T | - | intron_variant | - | 2/6 |
17-43923703-C-T | SPPL2C | c.1431C>T | p.Thr477Thr | Synonymous | 1/1 | - |
17-44055647-A-T | MAPT | c.308-94A>T | - | IntronicSNV | - | 4/13 |
9-127820351-C-A | SCAI | c.168-2065G>T | - | IntronicSNV | - | 3/18 |
11-112899633-C-A | NCAM1 | c.52+67247C>A | - | intron_variant | - | 2/19 |
7-126278785-G-A | GRM8 | c.1358-29233C>T | - | IntronicSNV | - | 7/10 |
12-109996343-C-A | MMAB | c.644+558G>T | - | IntronicSNV | - | 8/8 |
12-109996343-C-T | MMAB | c.644+558G>A | - | IntronicSNV | - | 8/8 |
1-8495945-T-C | RERE | c.1204-13078A>G | - | IntronicSNV | - | 11/22 |
7-127398247-G-A | SND1 | c.1152+36793G>A | - | IntronicSNV | - | 10/23 |
5-102608924-G-A | C5orf30 | c.1-2697G>A | - | IntronicSNV | - | 2/2 |
10-104653717-G-A | AS3MT | c.1020+3282G>A | - | IntronicSNV | - | 10/10 |
11-113262900-A-C | ANKK1 | c.186-1303A>C | - | IntronicSNV | - | 1/7 |
11-113211370-T-A | TTC12 | c.827-16T>A | - | IntronicSNV | - | 10/21 |
11-113211370-T-G | TTC12 | c.827-16T>G | - | IntronicSNV | - | 10/21 |
5-107513703-T-G | FBXL17 | c.1745+8115A>C | - | IntronicSNV | - | 6/8 |
11-112852192-T-C | NCAM1 | c.52+19806T>C | - | intron_variant | - | 2/19 |
7-126383857-C-A | GRM8 | c.1357+26062G>T | - | IntronicSNV | - | 7/10 |
6-31729359-A-G | MSH5 | c.2148A>G | p.Gln716Gln | Synonymous | 22/25 | - |
1-7031225-T-G | CAMTA1 | c.235-120139T>G | - | IntronicSNV | - | 3/22 |
3-52532291-G-T | STAB1 | c.78+2784G>T | - | IntronicSNV | - | 1/68 |
3-52532291-G-C | STAB1 | c.78+2784G>C | - | IntronicSNV | - | 1/68 |
3-52532291-G-A | STAB1 | c.78+2784G>A | - | IntronicSNV | - | 1/68 |
20-33313042-C-T | NCOA6 | c.6148+2021G>A | - | IntronicSNV | - | 14/14 |
17-43892788-G-A | CRHR1 | c.122-1041G>A | - | IntronicSNV | - | 2/13 |
11-47726977-C-G | AGBL2 | c.400+96G>C | - | IntronicSNV | - | 6/18 |
11-47726977-C-T | AGBL2 | c.400+96G>A | - | IntronicSNV | - | 6/18 |
7-126281254-T-C | GRM8 | c.1358-31702A>G | - | IntronicSNV | - | 7/10 |
7-126444732-T-A | GRM8 | c.1157-34613A>T | - | IntronicSNV | - | 6/10 |
11-88694594-T-A | GRM5 | c.661+85786A>T | - | IntronicSNV | - | 2/8 |
17-43912786-G-C | CRHR1 | c.*656G>C | - | 3-UTRSNV | 14/14 | - |
17-43912786-G-A | CRHR1 | c.*656G>A | - | 3-UTRSNV | 14/14 | - |
11-112859867-C-T | NCAM1 | c.52+27481C>T | - | intron_variant | - | 2/19 |
11-112859867-C-G | NCAM1 | c.52+27481C>G | - | intron_variant | - | 2/19 |
11-88694594-T-C | GRM5 | c.661+85786A>G | - | IntronicSNV | - | 2/8 |
20-18576980-A-G | DTD1 | c.370+95A>G | - | IntronicSNV | - | 3/5 |
17-44013189-C-T | MAPT | c.1-26515C>T | - | IntronicSNV | - | 1/13 |
11-47393638-T-C | SPI1 | c.142+3546A>G | - | IntronicSNV | - | 2/4 |
16-7668480-C-T | RBFOX1 | c.736+11140C>T | - | IntronicSNV | - | 7/12 |
11-46777392-T-C | CKAP5 | c.4690-2345A>G | - | IntronicSNV | - | 35/42 |
11-46777392-T-A | CKAP5 | c.4690-2345A>T | - | IntronicSNV | - | 35/42 |
17-43902541-A-G | CRHR1 | c.327+3735A>G | - | IntronicSNV | - | 4/13 |
6-28219270-G-A | ZKSCAN4 | c.423+66C>T | - | IntronicSNV | - | 1/4 |
1-174973726-A-G | CACYBP | c.16-24A>G | - | IntronicSNV | - | 1/5 |
14-75355203-T-C | DLST | c.147-595T>C | - | IntronicSNV | - | 3/6 |
11-112883761-C-A | NCAM1 | c.52+51375C>A | - | intron_variant | - | 2/19 |
7-127475188-C-T | SND1 | c.1243-9189C>T | - | IntronicSNV | - | 11/23 |
14-75355203-T-G | DLST | c.147-595T>G | - | IntronicSNV | - | 3/6 |
2-144250487-C-T | ARHGAP15 | c.826+5423C>T | - | IntronicSNV | - | 9/13 |
5-64827281-T-G | CENPK | c.289-2255A>C | - | IntronicSNV | - | 6/10 |
1-8484823-A-G | RERE | c.1204-1956T>C | - | IntronicSNV | - | 11/22 |
1-8484823-A-T | RERE | c.1204-1956T>A | - | IntronicSNV | - | 11/22 |
9-27959081-A-T | LINGO2 | c.1-8412T>A | - | IntronicSNV | - | 1/6 |
9-27959081-A-C | LINGO2 | c.1-8412T>G | - | IntronicSNV | - | 1/6 |
5-45537620-T-A | HCN1 | c.850-75511A>T | - | IntronicSNV | - | 2/7 |
5-102607585-A-T | C5orf30 | c.1-4036A>T | - | IntronicSNV | - | 2/2 |
17-43911525-C-T | CRHR1 | c.1194+111C>T | - | IntronicSNV | - | 13/13 |
2-24116716-C-T | ATAD2B | c.368+1973G>A | - | IntronicSNV | - | 2/27 |
9-96369258-T-A | PHF2 | c.99-22994T>A | - | IntronicSNV | - | 1/21 |
11-47440758-G-A | PSMC3 | c.1128-10C>T | - | IntronicSNV | - | 10/11 |
17-44215823-A-G | KANSL1 | c.1289+32398T>C | - | IntronicSNV | - | 2/14 |
9-96435650-A-G | PHF2 | c.2349-217A>G | - | IntronicSNV | - | 17/21 |
17-44013346-T-C | MAPT | c.1-26358T>C | - | IntronicSNV | - | 1/13 |
10-104630412-A-T | AS3MT | c.170+444A>T | - | IntronicSNV | - | 3/10 |
1-197671115-C-T | DENND1B | c.126+13046G>A | - | IntronicSNV | - | 3/15 |
1-8556545-A-T | RERE | c.1004+920T>A | - | IntronicSNV | - | 9/22 |
11-47805614-C-A | NUP160 | c.3990+860G>T | - | IntronicSNV | - | 33/35 |
17-43976627-G-T | MAPT | c.-18+4575G>T | - | intron_variant | - | 1/13 |
9-126477127-T-C | DENND1A | c.303-38059A>G | - | IntronicSNV | - | 5/20 |
7-126293186-T-A | GRM8 | c.1358-43634A>T | - | IntronicSNV | - | 7/10 |
7-126403956-G-A | GRM8 | c.1357+5963C>T | - | IntronicSNV | - | 7/10 |
11-112896214-C-G | NCAM1 | c.52+63828C>G | - | intron_variant | - | 2/19 |
11-112896214-C-T | NCAM1 | c.52+63828C>T | - | intron_variant | - | 2/19 |
3-136027549-A-T | PCCB | c.966+7596A>T | - | IntronicSNV | - | 9/14 |
17-44246997-G-A | KANSL1 | c.1289+1224C>T | - | IntronicSNV | - | 2/14 |
10-104897985-T-C | NT5C2 | c.175+1178A>G | - | IntronicSNV | - | 4/18 |
3-53022076-C-G | SFMBT1 | c.1-18932G>C | - | IntronicSNV | - | 1/20 |
3-136137422-G-A | STAG1 | c.2109-608C>T | - | IntronicSNV | - | 20/33 |
1-197566842-C-T | DENND1B | c.922-2379G>A | - | IntronicSNV | - | 13/15 |
1-174823032-A-G | RABGAP1L | c.297+41934A>G | - | IntronicSNV | - | 2/8 |
8-14155073-G-A | SGCZ | c.336+26539C>T | - | IntronicSNV | - | 3/7 |
8-14155073-G-C | SGCZ | c.336+26539C>G | - | IntronicSNV | - | 3/7 |
1-174823032-A-T | RABGAP1L | c.297+41934A>T | - | IntronicSNV | - | 2/8 |
2-24178154-G-A | UBXN2A | c.1-3031G>A | - | IntronicSNV | - | 1/6 |
11-112860579-T-C | NCAM1 | c.52+28193T>C | - | intron_variant | - | 2/19 |
17-43996908-T-G | MAPT | c.-18+24856T>G | - | intron_variant | - | 1/13 |
11-112899214-T-C | NCAM1 | c.52+66828T>C | - | intron_variant | - | 2/19 |
17-44111109-A-G | KANSL1 | c.2667-283T>C | - | IntronicSNV | - | 11/14 |
1-174811514-A-T | RABGAP1L | c.297+30416A>T | - | IntronicSNV | - | 2/8 |
17-43992283-A-G | MAPT | c.-18+20231A>G | - | intron_variant | - | 1/13 |
17-44090858-C-T | MAPT | c.1867-751C>T | - | IntronicSNV | - | 11/13 |
11-13300252-C-G | ARNTL | c.-263+782C>G | - | intron_variant | - | 1/19 |
17-44202564-G-A | KANSL1 | c.1290-30497C>T | - | IntronicSNV | - | 2/14 |
5-139649201-G-A | PFDN1 | c.285+11833C>T | - | IntronicSNV | - | 3/3 |
20-33447915-G-A | GGT7 | c.744-70C>T | - | IntronicSNV | - | 5/14 |
19-32910431-A-G | DPY19L3 | c.237+8153A>G | - | IntronicSNV | - | 3/18 |
11-47372377-G-C | MYBPC3 | c.293-211C>G | - | IntronicSNV | - | 2/34 |
7-82069573-C-T | CACNA2D1 | c.95+3108G>A | - | IntronicSNV | - | 1/38 |
7-2090387-C-G | MAD1L1 | c.1218+18442G>C | - | IntronicSNV | - | 12/18 |
5-139641896-C-A | PFDN1 | c.286-16254G>T | - | IntronicSNV | - | 3/3 |
2-148658595-G-A | ACVR2A | c.528+1128G>A | - | IntronicSNV | - | 4/10 |
11-113294976-T-C | DRD2 | c.285+113A>G | - | IntronicSNV | - | 2/7 |
20-18532587-C-T | SEC23B | c.1992+768C>T | - | IntronicSNV | - | 17/19 |
11-47573342-G-A | CELF1 | c.-11+1202C>T | - | intron_variant | - | 1/13 |
11-47573342-G-C | CELF1 | c.-11+1202C>G | - | intron_variant | - | 1/13 |
18-50826478-A-G | DCC | c.1912-5470A>G | - | IntronicSNV | - | 12/28 |
3-52982159-G-T | SFMBT1 | c.124-4550C>A | - | IntronicSNV | - | 3/20 |
17-44255777-G-A | KANSL1 | c.1-6268C>T | - | IntronicSNV | - | 1/14 |
7-127457228-A-G | SND1 | c.1242+9601A>G | - | IntronicSNV | - | 11/23 |
3-50412945-A-G | CACNA2D2 | c.1907+130T>C | - | IntronicSNV | - | 21/37 |
17-44254413-A-G | KANSL1 | c.1-4904T>C | - | IntronicSNV | - | 1/14 |
6-100848871-A-G | SIM1 | c.1168-7106T>C | - | IntronicSNV | - | 9/10 |
17-44858728-G-A | WNT3 | c.81-7453C>T | - | IntronicSNV | - | 1/4 |
17-44264045-T-A | KANSL1 | c.-90+6144A>T | - | intron_variant | - | 1/14 |
7-126382962-T-C | GRM8 | c.1357+26957A>G | - | IntronicSNV | - | 7/10 |
17-44264045-T-G | KANSL1 | c.-90+6144A>C | - | intron_variant | - | 1/14 |
17-44141347-A-G | KANSL1 | c.1848+2556T>C | - | IntronicSNV | - | 6/14 |
17-44230647-C-G | KANSL1 | c.1289+17574G>C | - | IntronicSNV | - | 2/14 |
5-139589309-A-G | CYSTM1 | c.187+15072A>G | - | IntronicSNV | - | 2/2 |
11-113300022-A-C | DRD2 | c.1-4649T>G | - | IntronicSNV | - | 1/7 |
10-104655350-T-C | AS3MT | c.1020+4915T>C | - | IntronicSNV | - | 10/10 |
17-43912454-T-C | CRHR1 | c.*324T>C | - | 3-UTRSNV | 14/14 | - |
14-75288518-A-G | YLPM1 | c.6111+678A>G | - | IntronicSNV | - | 17/20 |
17-44019479-C-G | MAPT | c.1-20225C>G | - | IntronicSNV | - | 1/13 |
11-47560433-T-C | CELF1 | c.-11+14111A>G | - | intron_variant | - | 1/13 |
11-112861443-G-A | NCAM1 | c.52+29057G>A | - | intron_variant | - | 2/19 |
11-47589707-C-T | PTPMT1 | c.256-1545C>T | - | IntronicSNV | - | 2/3 |
16-7662891-C-T | RBFOX1 | c.736+5551C>T | - | IntronicSNV | - | 7/12 |
16-7662891-C-G | RBFOX1 | c.736+5551C>G | - | IntronicSNV | - | 7/12 |
3-136028987-C-T | PCCB | c.967-6796C>T | - | IntronicSNV | - | 9/14 |
7-126467572-C-G | GRM8 | c.1157-57453G>C | - | IntronicSNV | - | 6/10 |
2-148927969-A-G | MBD5 | c.-924-8300A>G | - | intron_variant | - | 2/14 |
2-148927969-A-C | MBD5 | c.-924-8300A>C | - | intron_variant | - | 2/14 |
7-126372057-C-T | GRM8 | c.1357+37862G>A | - | IntronicSNV | - | 7/10 |
7-126467572-C-T | GRM8 | c.1157-57453G>A | - | IntronicSNV | - | 6/10 |
17-44191085-G-A | KANSL1 | c.1290-19018C>T | - | IntronicSNV | - | 2/14 |
9-96407848-A-C | PHF2 | c.300-63A>C | - | IntronicSNV | - | 3/21 |
5-139654664-G-T | PFDN1 | c.285+6370C>A | - | IntronicSNV | - | 3/3 |
9-96363918-T-C | PHF2 | c.98+24765T>C | - | IntronicSNV | - | 1/21 |
17-44220942-G-A | KANSL1 | c.1289+27279C>T | - | IntronicSNV | - | 2/14 |
11-13315049-T-C | ARNTL | c.-263+15579T>C | - | intron_variant | - | 1/19 |
17-44131592-A-G | KANSL1 | c.1849-3522T>C | - | IntronicSNV | - | 6/14 |
17-44052284-G-A | MAPT | c.307+447G>A | - | IntronicSNV | - | 4/13 |
9-98236865-C-A | PTCH1 | c.1728+1451G>T | - | IntronicSNV | - | 12/23 |
11-47566352-T-C | CELF1 | c.-11+8192A>G | - | intron_variant | - | 1/13 |
11-47706086-C-A | AGBL2 | c.1788+1359G>T | - | IntronicSNV | - | 11/18 |
9-96218959-A-C | FAM120A | c.474+4288A>C | - | IntronicSNV | - | 1/17 |
11-13369755-G-A | ARNTL | c.1-6101G>A | - | IntronicSNV | - | 1/19 |
3-136066051-A-T | STAG1 | c.3271+1949T>A | - | IntronicSNV | - | 29/33 |
11-47116823-T-G | C11orf49 | c.281-42373T>G | - | IntronicSNV | - | 3/8 |
3-136066051-A-G | STAG1 | c.3271+1949T>C | - | IntronicSNV | - | 29/33 |
22-41704143-G-T | ZC3H7B | c.-7+6367G>T | - | intron_variant | - | 1/22 |
17-43895696-G-A | CRHR1 | c.241+1748G>A | - | IntronicSNV | - | 3/13 |
17-43500587-G-A | ARHGAP27 | c.-367+2343C>T | - | intron_variant | - | 1/16 |
9-127827488-C-T | SCAI | c.167+781G>A | - | IntronicSNV | - | 3/18 |
17-44157992-T-C | KANSL1 | c.1533+1815A>G | - | IntronicSNV | - | 4/14 |
18-53083865-T-C | TCF4 | c.305-13116A>G | - | IntronicSNV | - | 5/19 |
7-114310053-G-T | FOXP2 | c.2003+5562G>T | - | IntronicSNV | - | 16/16 |
11-113303929-C-T | DRD2 | c.1-8556G>A | - | IntronicSNV | - | 1/7 |
17-44048350-T-C | MAPT | c.134-875T>C | - | IntronicSNV | - | 2/13 |
17-43896528-C-T | CRHR1 | c.242-2193C>T | - | IntronicSNV | - | 3/13 |
16-7666088-G-T | RBFOX1 | c.736+8748G>T | - | IntronicSNV | - | 7/12 |
1-8650185-T-C | RERE | c.522+24435A>G | - | IntronicSNV | - | 4/22 |
17-44231617-A-T | KANSL1 | c.1289+16604T>A | - | IntronicSNV | - | 2/14 |
16-87445642-G-A | ZCCHC14 | c.2274C>T | p.Ala758Ala | Synonymous | 12/13 | - |
7-126400885-C-G | GRM8 | c.1357+9034G>C | - | IntronicSNV | - | 7/10 |
1-8569906-C-G | RERE | c.831-1172G>C | - | IntronicSNV | - | 7/22 |
22-41782119-C-G | TEF | c.158-1236C>G | - | IntronicSNV | - | 1/3 |
6-26091336-T-C | HFE | c.340+4T>C | - | IntronicSNV | - | 2/5 |
7-126438118-T-C | GRM8 | c.1157-27999A>G | - | IntronicSNV | - | 6/10 |
7-126393019-G-A | GRM8 | c.1357+16900C>T | - | IntronicSNV | - | 7/10 |
11-47389638-C-T | SPI1 | c.142+7546G>A | - | IntronicSNV | - | 2/4 |
2-24062566-G-A | ATAD2B | c.1569-5618C>T | - | IntronicSNV | - | 13/27 |
5-139654115-G-A | PFDN1 | c.285+6919C>T | - | IntronicSNV | - | 3/3 |
17-44150920-T-C | KANSL1 | c.1534-5887A>G | - | IntronicSNV | - | 4/14 |
7-126080695-C-T | GRM8 | c.2678-1473G>A | - | IntronicSNV | - | 10/10 |
16-31090407-G-C | ZNF646 | c.2762G>C | p.Gly921Ala | Missense | 2/3 | - |
16-31090407-G-T | ZNF646 | c.2762G>T | p.Gly921Val | Missense | 2/3 | - |
2-148627396-C-T | ACVR2A | c.55+24620C>T | - | IntronicSNV | - | 1/10 |
3-52740182-C-T | SPCS1 | c.-81C>T | - | 5_prime_UTR_variant | 1/4 | - |
11-112860348-A-T | NCAM1 | c.52+27962A>T | - | intron_variant | - | 2/19 |
6-32050067-T-G | TNXB | c.3482A>C | p.His1161Pro | Missense | 9/44 | - |
11-112860348-A-C | NCAM1 | c.52+27962A>C | - | intron_variant | - | 2/19 |
16-7666391-G-A | RBFOX1 | c.736+9051G>A | - | IntronicSNV | - | 7/12 |
1-8569906-C-T | RERE | c.831-1172G>A | - | IntronicSNV | - | 7/22 |
3-136348599-G-A | STAG1 | c.29+1113C>T | - | IntronicSNV | - | 2/33 |
6-28219661-G-A | ZKSCAN4 | c.98C>T | p.Ser33Phe | Missense | 1/5 | - |
7-82068251-T-C | CACNA2D1 | c.95+4430A>G | - | IntronicSNV | - | 1/38 |
6-28219661-G-T | ZKSCAN4 | c.98C>A | p.Ser33Tyr | Missense | 1/5 | - |
6-101012187-A-C | ASCC3 | c.5551-23924T>G | - | IntronicSNV | - | 36/41 |
17-43897722-T-C | CRHR1 | c.242-999T>C | - | IntronicSNV | - | 3/13 |
1-197387956-T-C | CRB1 | c.1172-2174T>C | - | IntronicSNV | - | 5/11 |
10-104635344-G-C | AS3MT | c.528+926G>C | - | IntronicSNV | - | 6/10 |
3-50294066-C-G | GNAI2 | c.594-89C>G | - | IntronicSNV | - | 5/8 |
17-44064759-A-C | MAPT | c.1182+298A>C | - | IntronicSNV | - | 7/13 |
17-44033401-C-T | MAPT | c.1-6303C>T | - | IntronicSNV | - | 1/13 |
6-28548674-G-A | ZBED9 | c.421-1478C>T | - | IntronicSNV | - | 1/3 |
18-53045198-C-T | TCF4 | c.369+25487G>A | - | IntronicSNV | - | 6/19 |
17-44081462-T-C | MAPT | c.1774-6214T>C | - | IntronicSNV | - | 10/13 |
16-7662811-A-G | RBFOX1 | c.736+5471A>G | - | IntronicSNV | - | 7/12 |
17-44079721-A-G | MAPT | c.1773+5691A>G | - | IntronicSNV | - | 10/13 |
20-43702431-T-C | STK4 | c.1306-1228T>C | - | IntronicSNV | - | 10/10 |
9-96367345-C-T | PHF2 | c.99-24907C>T | - | IntronicSNV | - | 1/21 |
16-7667995-C-T | RBFOX1 | c.736+10655C>T | - | IntronicSNV | - | 7/12 |
17-44017124-G-T | MAPT | c.1-22580G>T | - | IntronicSNV | - | 1/13 |
17-44017124-G-A | MAPT | c.1-22580G>A | - | IntronicSNV | - | 1/13 |
7-126399506-C-A | GRM8 | c.1357+10413G>T | - | IntronicSNV | - | 7/10 |
16-7673819-G-C | RBFOX1 | c.737-6786G>C | - | IntronicSNV | - | 7/12 |
16-31095251-G-T | ZNF646 | c.*838G>T | - | IntergenicSNV | 3/3 | - |
7-127415303-G-T | SND1 | c.1153-32235G>T | - | IntronicSNV | - | 10/23 |
7-126127725-T-C | GRM8 | c.2431-41299A>G | - | IntronicSNV | - | 9/10 |
14-75377352-A-G | RPS6KL1 | c.665-501T>C | - | IntronicSNV | - | 7/11 |
1-8490983-C-T | RERE | c.1204-8116G>A | - | IntronicSNV | - | 11/22 |
11-46984803-A-T | C11orf49 | c.47-23956A>T | - | IntronicSNV | - | 1/8 |
9-23724832-C-T | ELAVL2 | c.333+6188G>A | - | IntronicSNV | - | 3/6 |
11-113291588-G-A | DRD2 | c.286-2730C>T | - | IntronicSNV | - | 2/7 |
18-52890160-A-G | TCF4 | c.*5106T>C | - | 3_prime_UTR_variant | 20/20 | - |
1-8484228-C-T | RERE | c.1204-1361G>A | - | IntronicSNV | - | 11/22 |
3-85780454-A-G | CADM2 | c.67+4756A>G | - | IntronicSNV | - | 1/9 |
3-85780454-A-T | CADM2 | c.67+4756A>T | - | IntronicSNV | - | 1/9 |
7-126422818-T-G | GRM8 | c.1157-12699A>C | - | IntronicSNV | - | 6/10 |
5-139666906-A-T | PFDN1 | c.201-5788T>A | - | IntronicSNV | - | 2/3 |
3-136346206-T-C | STAG1 | c.29+3506A>G | - | IntronicSNV | - | 2/33 |
17-44022528-A-G | MAPT | c.1-17176A>G | - | IntronicSNV | - | 1/13 |
11-47811309-A-C | NUP160 | c.3512-1146T>G | - | IntronicSNV | - | 29/35 |
11-47129854-A-C | C11orf49 | c.281-29342A>C | - | IntronicSNV | - | 3/8 |
10-104692542-T-C | CNNM2 | c.1621+12684T>C | - | IntronicSNV | - | 1/7 |
11-61571348-C-T | FADS1 | c.1054-109G>A | - | IntronicSNV | - | 7/11 |
17-43911443-T-C | CRHR1 | c.1194+29T>C | - | IntronicSNV | - | 13/13 |
6-32064726-T-C | TNXB | c.904A>G | p.Thr302Ala | Missense | 3/44 | - |
3-52740182-C-G | SPCS1 | c.-81C>G | - | 5_prime_UTR_variant | 1/4 | - |
7-126388707-C-G | GRM8 | c.1357+21212G>C | - | IntronicSNV | - | 7/10 |
17-44033169-T-C | MAPT | c.1-6535T>C | - | IntronicSNV | - | 1/13 |
17-44050282-G-A | MAPT | c.220+971G>A | - | IntronicSNV | - | 3/13 |
11-112906218-G-C | NCAM1 | c.52+73832G>C | - | intron_variant | - | 2/19 |
9-96264109-A-C | FAM120A | c.1030+2941A>C | - | IntronicSNV | - | 5/17 |
9-96263261-G-A | FAM120A | c.1030+2093G>A | - | IntronicSNV | - | 5/17 |
12-118815272-A-T | SUDS3 | c.142+634A>T | - | IntronicSNV | - | 1/11 |
7-126425473-T-G | GRM8 | c.1157-15354A>C | - | IntronicSNV | - | 6/10 |
17-8932119-A-C | NTN1 | c.1018+5411A>C | - | IntronicSNV | - | 2/6 |
7-126425473-T-C | GRM8 | c.1157-15354A>G | - | IntronicSNV | - | 6/10 |
11-112869404-T-C | NCAM1 | c.52+37018T>C | - | intron_variant | - | 2/19 |
3-136103349-A-G | STAG1 | c.2278-6755T>C | - | IntronicSNV | - | 22/33 |
3-136103349-A-T | STAG1 | c.2278-6755T>A | - | IntronicSNV | - | 22/33 |
11-13313243-G-A | ARNTL | c.-263+13773G>A | - | intron_variant | - | 1/19 |
6-31733466-T-G | VWA7 | c.2581A>C | p.Thr861Pro | Missense | 17/17 | - |
22-41699206-G-C | ZC3H7B | c.-7+1430G>C | - | intron_variant | - | 1/22 |
9-126391268-T-G | DENND1A | c.719+1387A>C | - | IntronicSNV | - | 10/20 |
4-90737327-G-A | SNCA | c.306+6070C>T | - | IntronicSNV | - | 4/5 |
17-44135026-G-C | KANSL1 | c.1849-6956C>G | - | IntronicSNV | - | 6/14 |
12-118803191-A-C | TAOK3 | c.-194+7262T>G | - | intron_variant | - | 1/20 |
3-52862200-C-T | ITIH4 | c.251+935G>A | - | IntronicSNV | - | 2/23 |
12-118614498-A-T | TAOK3 | c.1695+508T>A | - | IntronicSNV | - | 16/20 |
17-44089563-C-T | MAPT | c.1866+1795C>T | - | IntronicSNV | - | 11/13 |
9-98236202-A-G | PTCH1 | c.1728+2114T>C | - | IntronicSNV | - | 12/23 |
1-8728864-G-A | RERE | c.1-12508C>T | - | IntronicSNV | - | 1/22 |
22-41644428-G-C | RANGAP1 | c.1694+906C>G | - | IntronicSNV | - | 15/15 |
9-96379483-C-T | PHF2 | c.99-12769C>T | - | IntronicSNV | - | 1/21 |
3-136402293-C-T | STAG1 | c.1-52553G>A | - | IntronicSNV | - | 1/33 |
3-136402293-C-A | STAG1 | c.1-52553G>T | - | IntronicSNV | - | 1/33 |
9-96262725-C-T | FAM120A | c.1030+1557C>T | - | IntronicSNV | - | 5/17 |
2-148756072-A-G | ORC4 | c.1-22545T>C | - | IntronicSNV | - | 1/13 |
9-96395801-G-A | PHF2 | c.185-2892G>A | - | IntronicSNV | - | 2/21 |
9-96395801-G-C | PHF2 | c.185-2892G>C | - | IntronicSNV | - | 2/21 |
9-96398999-C-T | PHF2 | c.299+192C>T | - | IntronicSNV | - | 3/21 |
1-8547866-A-C | RERE | c.1104+7257T>G | - | IntronicSNV | - | 10/22 |
7-126381659-A-G | GRM8 | c.1357+28260T>C | - | IntronicSNV | - | 7/10 |
10-104878543-C-T | NT5C2 | c.176-12080G>A | - | IntronicSNV | - | 4/18 |
9-96413192-A-T | PHF2 | c.602+1698A>T | - | IntronicSNV | - | 5/21 |
9-127965400-A-C | RABEPK | c.53+55A>C | - | IntronicSNV | - | 2/7 |
9-127965400-A-T | RABEPK | c.53+55A>T | - | IntronicSNV | - | 2/7 |
22-41665722-G-A | RANGAP1 | c.241-1562C>T | - | IntronicSNV | - | 3/15 |
9-127986904-A-T | RABEPK | c.527-3285A>T | - | IntronicSNV | - | 5/7 |
11-47392114-G-A | SPI1 | c.142+5070C>T | - | IntronicSNV | - | 2/4 |
7-126166986-A-G | GRM8 | c.2430+6020T>C | - | IntronicSNV | - | 9/10 |
3-136097576-T-C | STAG1 | c.2278-982A>G | - | IntronicSNV | - | 22/33 |
22-41652345-C-G | RANGAP1 | c.889-51G>C | - | IntronicSNV | - | 8/15 |
11-13310718-T-C | ARNTL | c.-263+11248T>C | - | intron_variant | - | 1/19 |
9-127964347-G-A | RABEPK | c.1-946G>A | - | IntronicSNV | - | 1/7 |
15-41989091-C-A | MGA | c.1883C>A | p.Pro628Gln | Missense | 3/24 | - |
11-112877409-T-A | NCAM1 | c.52+45023T>A | - | intron_variant | - | 2/19 |
17-43895530-C-T | CRHR1 | c.241+1582C>T | - | IntronicSNV | - | 3/13 |
6-26509382-C-T | BTN1A1 | c.1561C>T | p.Pro521Ser | Missense | 8/8 | - |
11-113334209-G-A | DRD2 | c.-32+11589C>T | - | intron_variant | - | 1/7 |
17-44188755-T-C | KANSL1 | c.1290-16688A>G | - | IntronicSNV | - | 2/14 |
22-41698542-C-G | ZC3H7B | c.-7+766C>G | - | intron_variant | - | 1/22 |
11-47701819-T-C | AGBL2 | c.1916-194A>G | - | IntronicSNV | - | 12/18 |
3-136103920-T-C | STAG1 | c.2278-7326A>G | - | IntronicSNV | - | 22/33 |
17-44064208-G-A | MAPT | c.1127-198G>A | - | IntronicSNV | - | 6/13 |
11-13311263-C-T | ARNTL | c.-263+11793C>T | - | intron_variant | - | 1/19 |
7-126285632-G-A | GRM8 | c.1358-36080C>T | - | IntronicSNV | - | 7/10 |
11-113236492-G-C | TTC12 | c.2043-455G>C | - | IntronicSNV | - | 21/21 |
11-113236492-G-T | TTC12 | c.2043-455G>T | - | IntronicSNV | - | 21/21 |
2-24129389-G-A | ATAD2B | c.217-10549C>T | - | IntronicSNV | - | 1/27 |
17-43992244-G-T | MAPT | c.-18+20192G>T | - | intron_variant | - | 1/13 |
11-47459963-T-A | RAPSN | c.1166+320A>T | - | IntronicSNV | - | 7/7 |
10-104656015-G-A | AS3MT | c.1021-4335G>A | - | IntronicSNV | - | 10/10 |
3-136098408-G-A | STAG1 | c.2278-1814C>T | - | IntronicSNV | - | 22/33 |
7-126396505-A-C | GRM8 | c.1357+13414T>G | - | IntronicSNV | - | 7/10 |
6-28117331-C-T | ZKSCAN8 | c.488C>T | p.Pro163Leu | Missense | 4/7 | - |
7-126400885-C-A | GRM8 | c.1357+9034G>T | - | IntronicSNV | - | 7/10 |
17-44137189-A-T | KANSL1 | c.1848+6714T>A | - | IntronicSNV | - | 6/14 |
7-126400885-C-T | GRM8 | c.1357+9034G>A | - | IntronicSNV | - | 7/10 |
20-18514932-T-C | SEC23B | c.1315-1365T>C | - | IntronicSNV | - | 11/19 |
17-44137189-A-C | KANSL1 | c.1848+6714T>G | - | IntronicSNV | - | 6/14 |
6-31742590-A-G | VWA7 | c.611-187T>C | - | IntronicSNV | - | 4/16 |
2-226353554-G-T | NYAP2 | c.222-24533G>T | - | IntronicSNV | - | 2/5 |
11-113235419-A-G | TTC12 | c.1817-138A>G | - | IntronicSNV | - | 20/21 |
17-44009921-A-G | MAPT | c.1-29783A>G | - | IntronicSNV | - | 1/13 |
18-53123172-A-G | TCF4 | c.304+5078T>C | - | IntronicSNV | - | 5/19 |
17-44031540-G-T | MAPT | c.1-8164G>T | - | IntronicSNV | - | 1/13 |
14-75377352-A-C | RPS6KL1 | c.665-501T>G | - | IntronicSNV | - | 7/11 |
17-44134984-G-A | KANSL1 | c.1849-6914C>T | - | IntronicSNV | - | 6/14 |
5-45690187-A-C | HCN1 | c.425+5584T>G | - | IntronicSNV | - | 1/7 |
7-126388945-A-G | GRM8 | c.1357+20974T>C | - | IntronicSNV | - | 7/10 |
11-47099125-A-C | C11orf49 | c.280+25056A>C | - | IntronicSNV | - | 3/8 |
14-75377352-A-T | RPS6KL1 | c.665-501T>A | - | IntronicSNV | - | 7/11 |
5-139652057-G-C | PFDN1 | c.285+8977C>G | - | IntronicSNV | - | 3/3 |
5-139652057-G-A | PFDN1 | c.285+8977C>T | - | IntronicSNV | - | 3/3 |
20-43692633-G-T | STK4 | c.1306-11026G>T | - | IntronicSNV | - | 10/10 |
8-10209623-T-C | MSRA | c.543+32124T>C | - | IntronicSNV | - | 5/5 |
22-41653540-T-G | RANGAP1 | c.774+412A>C | - | IntronicSNV | - | 7/15 |
17-43978625-T-C | MAPT | c.-18+6573T>C | - | intron_variant | - | 1/13 |
17-43924073-T-C | SPPL2C | c.1801T>C | p.Ser601Pro | Missense | 1/1 | - |
2-226360417-G-A | NYAP2 | c.222-17670G>A | - | IntronicSNV | - | 2/5 |
7-126401576-G-T | GRM8 | c.1357+8343C>A | - | IntronicSNV | - | 7/10 |
7-126401576-G-C | GRM8 | c.1357+8343C>G | - | IntronicSNV | - | 7/10 |
17-43985597-C-T | MAPT | c.-18+13545C>T | - | intron_variant | - | 1/13 |
14-75291900-C-T | YLPM1 | c.6163+890C>T | - | IntronicSNV | - | 18/20 |
11-13301875-C-G | ARNTL | c.-263+2405C>G | - | intron_variant | - | 1/19 |
11-13301875-C-A | ARNTL | c.-263+2405C>A | - | intron_variant | - | 1/19 |
11-112912518-A-C | NCAM1 | c.52+80132A>C | - | intron_variant | - | 2/19 |
14-69609498-T-C | DCAF5 | c.214+9984A>G | - | IntronicSNV | - | 1/8 |
17-44136577-A-C | KANSL1 | c.1848+7326T>G | - | IntronicSNV | - | 6/14 |
17-44136577-A-G | KANSL1 | c.1848+7326T>C | - | IntronicSNV | - | 6/14 |
1-8490320-T-G | RERE | c.1204-7453A>C | - | IntronicSNV | - | 11/22 |
5-139646776-C-T | PFDN1 | c.285+14258G>A | - | IntronicSNV | - | 3/3 |
1-174830033-A-G | RABGAP1L | c.297+48935A>G | - | IntronicSNV | - | 2/8 |
11-112927957-G-C | NCAM1 | c.52+95571G>C | - | intron_variant | - | 2/19 |
11-112927957-G-T | NCAM1 | c.52+95571G>T | - | intron_variant | - | 2/19 |
11-47807774-T-C | NUP160 | c.3848+231A>G | - | IntronicSNV | - | 32/35 |
7-126385823-C-T | GRM8 | c.1357+24096G>A | - | IntronicSNV | - | 7/10 |
2-24178154-G-T | UBXN2A | c.1-3031G>T | - | IntronicSNV | - | 1/6 |
2-23879268-A-C | KLHL29 | c.940+13548A>C | - | IntronicSNV | - | 5/13 |
10-104928914-T-A | NT5C2 | c.101+5701A>T | - | IntronicSNV | - | 3/18 |
2-148785781-T-C | MBD5 | c.-925+6528T>C | - | intron_variant | - | 2/14 |
11-112878254-C-A | NCAM1 | c.52+45868C>A | - | intron_variant | - | 2/19 |
5-64831795-C-A | CENPK | c.289-6769G>T | - | IntronicSNV | - | 6/10 |
1-8467353-G-A | RERE | c.1284+15434C>T | - | IntronicSNV | - | 12/22 |
5-64831795-C-G | CENPK | c.289-6769G>C | - | IntronicSNV | - | 6/10 |
9-127890935-G-C | SCAI | c.98+13977C>G | - | IntronicSNV | - | 2/18 |
3-49200692-T-A | CCDC71 | c.950A>T | p.Gln317Leu | Missense | 2/2 | - |
17-44039691-A-G | MAPT | c.1-13A>G | - | 5-UTRSNV | 2/14 | - |
9-127964259-A-G | RABEPK | c.1-1034A>G | - | IntronicSNV | - | 1/7 |
17-44230647-C-T | KANSL1 | c.1289+17574G>A | - | IntronicSNV | - | 2/14 |
3-135993599-A-C | PCCB | c.544-9080A>C | - | IntronicSNV | - | 5/14 |
9-127970373-C-A | RABEPK | c.211+373C>A | - | IntronicSNV | - | 3/7 |
3-135993599-A-T | PCCB | c.544-9080A>T | - | IntronicSNV | - | 5/14 |
17-44093496-A-G | MAPT | c.1948+1806A>G | - | IntronicSNV | - | 12/13 |
17-44016157-G-C | MAPT | c.1-23547G>C | - | IntronicSNV | - | 1/13 |
1-8651582-T-A | RERE | c.522+23038A>T | - | IntronicSNV | - | 4/22 |
17-43985636-C-G | MAPT | c.-18+13584C>G | - | intron_variant | - | 1/13 |
17-44222460-T-G | KANSL1 | c.1289+25761A>C | - | IntronicSNV | - | 2/14 |
17-44187492-A-G | KANSL1 | c.1290-15425T>C | - | IntronicSNV | - | 2/14 |
9-96421269-C-T | PHF2 | c.1240-524C>T | - | IntronicSNV | - | 10/21 |
6-31591928-A-G | PRRC2A | c.291-110A>G | - | IntronicSNV | - | 3/30 |
7-1888051-G-A | MAD1L1 | c.1999-32187C>T | - | IntronicSNV | - | 18/18 |
11-47701528-C-A | AGBL2 | c.2013G>T | p.Met671Ile | Missense | 13/19 | - |
1-8658085-G-A | RERE | c.522+16535C>T | - | IntronicSNV | - | 4/22 |
11-47701528-C-G | AGBL2 | c.2013G>C | p.Met671Ile | Missense | 13/19 | - |
17-44259792-G-A | KANSL1 | c.1-10283C>T | - | IntronicSNV | - | 1/14 |
11-57463155-C-T | ZDHHC5 | c.886-237C>T | - | IntronicSNV | - | 8/11 |
17-44126218-G-A | KANSL1 | c.2020+1681C>T | - | IntronicSNV | - | 7/14 |
18-31531765-T-A | NOL4 | c.1428+5525A>T | - | IntronicSNV | - | 8/10 |
22-41650190-C-A | RANGAP1 | c.1260+122G>T | - | IntronicSNV | - | 11/15 |
3-52268866-T-C | TWF2 | c.103+179A>G | - | IntronicSNV | - | 2/8 |
17-44056833-G-A | MAPT | c.373+1027G>A | - | IntronicSNV | - | 5/13 |
5-149439044-C-G | CSF1R | c.2132+219G>C | - | IntronicSNV | - | 15/21 |
5-149439044-C-T | CSF1R | c.2132+219G>A | - | IntronicSNV | - | 15/21 |
18-52938369-G-A | TCF4 | c.790-1175C>T | - | IntronicSNV | - | 10/19 |
10-104636655-G-T | AS3MT | c.529-56G>T | - | IntronicSNV | - | 6/10 |
18-53227648-A-C | TCF4 | c.145+24863T>G | - | IntronicSNV | - | 3/19 |
7-126421750-T-C | GRM8 | c.1157-11631A>G | - | IntronicSNV | - | 6/10 |
17-43997499-A-T | MAPT | c.-18+25447A>T | - | intron_variant | - | 1/13 |
20-33398508-G-A | NCOA6 | c.-164+14767C>T | - | intron_variant | - | 1/14 |
3-52859630-C-G | ITIH4 | c.759+272G>C | - | IntronicSNV | - | 6/23 |
10-104633244-T-C | AS3MT | c.458+254T>C | - | IntronicSNV | - | 5/10 |
10-104633244-T-A | AS3MT | c.458+254T>A | - | IntronicSNV | - | 5/10 |
17-44160592-G-A | KANSL1 | c.1432-684C>T | - | IntronicSNV | - | 3/14 |
16-31093954-C-T | ZNF646 | c.5378-338C>T | - | IntronicSNV | - | 2/2 |
11-112852588-G-A | NCAM1 | c.52+20202G>A | - | intron_variant | - | 2/19 |
11-112852588-G-T | NCAM1 | c.52+20202G>T | - | intron_variant | - | 2/19 |
11-55872657-A-C | OR8H2 | c.139A>C | p.Ile47Leu | Missense | 1/1 | - |
1-8497307-T-C | RERE | c.1204-14440A>G | - | IntronicSNV | - | 11/22 |
20-18513372-C-T | SEC23B | c.1298C>T | p.Pro433Leu | Missense | 11/20 | - |
17-44146336-A-T | KANSL1 | c.1534-1303T>A | - | IntronicSNV | - | 4/14 |
18-31531765-T-C | NOL4 | c.1428+5525A>G | - | IntronicSNV | - | 8/10 |
16-7667392-C-T | RBFOX1 | c.736+10052C>T | - | IntronicSNV | - | 7/12 |
12-122181184-T-C | TMEM120B | c.70-351T>C | - | IntronicSNV | - | 1/11 |
17-2594218-G-A | CLUH | c.3861-147C>T | - | intron_variant | - | 25/25 |
14-75251440-A-T | YLPM1 | c.2282+2412A>T | - | IntronicSNV | - | 4/20 |
7-38934219-G-C | VPS41 | c.60+3472C>G | - | IntronicSNV | - | 2/28 |
16-7654531-A-C | RBFOX1 | c.683-2756A>C | - | IntronicSNV | - | 6/12 |
7-38940580-G-T | VPS41 | c.22-2851C>A | - | IntronicSNV | - | 1/28 |
20-18682409-A-G | DTD1 | c.478-42335A>G | - | IntronicSNV | - | 4/5 |
20-18682409-A-C | DTD1 | c.478-42335A>C | - | IntronicSNV | - | 4/5 |
10-104697516-G-T | CNNM2 | c.1621+17658G>T | - | IntronicSNV | - | 1/7 |
18-50787839-G-C | DCC | c.1912-44109G>C | - | IntronicSNV | - | 12/28 |
18-50779412-G-A | DCC | c.1911+37445G>A | - | IntronicSNV | - | 12/28 |
17-44149537-C-G | KANSL1 | c.1534-4504G>C | - | IntronicSNV | - | 4/14 |
20-18668315-C-T | DTD1 | c.478-56429C>T | - | IntronicSNV | - | 4/5 |
17-44181933-T-C | KANSL1 | c.1290-9866A>G | - | IntronicSNV | - | 2/14 |
18-53227648-A-G | TCF4 | c.145+24863T>C | - | IntronicSNV | - | 3/19 |
10-104950197-C-T | NT5C2 | c.-123+2796G>A | - | intron_variant | - | 1/18 |
1-8497307-T-A | RERE | c.1204-14440A>T | - | IntronicSNV | - | 11/22 |
7-12273496-G-T | TMEM106B | c.*1895G>T | - | 3-UTRSNV | 9/9 | - |
3-50393676-G-A | TMEM115 | c.852-698C>T | - | IntronicSNV | - | 1/1 |
11-113294998-T-C | DRD2 | c.285+91A>G | - | IntronicSNV | - | 2/7 |
3-136119909-G-C | STAG1 | c.2197-2238C>G | - | IntronicSNV | - | 21/33 |
20-18513372-C-A | SEC23B | c.1298C>A | p.Pro433Gln | Missense | 11/20 | - |
17-44006085-A-G | MAPT | c.1-33619A>G | - | IntronicSNV | - | 1/13 |
17-44189067-A-G | KANSL1 | c.1290-17000T>C | - | IntronicSNV | - | 2/14 |
1-8681044-T-C | RERE | c.396+3325A>G | - | IntronicSNV | - | 3/22 |
1-8681044-T-G | RERE | c.396+3325A>C | - | IntronicSNV | - | 3/22 |
3-50285677-T-C | GNAI2 | c.119-3855T>C | - | IntronicSNV | - | 1/8 |
3-136189865-G-A | STAG1 | c.1205+1390C>T | - | IntronicSNV | - | 12/33 |
7-38934219-G-T | VPS41 | c.60+3472C>A | - | IntronicSNV | - | 2/28 |
14-75273113-C-A | YLPM1 | c.4522-2970C>A | - | IntronicSNV | - | 6/20 |
9-96413705-A-T | PHF2 | c.603-1756A>T | - | IntronicSNV | - | 5/21 |
7-126391407-A-G | GRM8 | c.1357+18512T>C | - | IntronicSNV | - | 7/10 |
16-7666402-T-C | RBFOX1 | c.736+9062T>C | - | IntronicSNV | - | 7/12 |
16-7666402-T-A | RBFOX1 | c.736+9062T>A | - | IntronicSNV | - | 7/12 |
9-23737627-A-C | ELAVL2 | c.230-6504T>G | - | IntronicSNV | - | 2/6 |
9-23737627-A-G | ELAVL2 | c.230-6504T>C | - | IntronicSNV | - | 2/6 |
11-13323789-T-C | ARNTL | c.-262-7745T>C | - | intron_variant | - | 1/19 |
2-24006065-G-A | ATAD2B | c.2974-167C>T | - | IntronicSNV | - | 21/27 |
3-53160360-G-A | RFT1 | c.64-350C>T | - | IntronicSNV | - | 1/12 |
4-90757272-G-A | SNCA | c.1-454C>T | - | IntronicSNV | - | 1/5 |
7-126383578-C-T | GRM8 | c.1357+26341G>A | - | IntronicSNV | - | 7/10 |
7-126383578-C-A | GRM8 | c.1357+26341G>T | - | IntronicSNV | - | 7/10 |
12-110027795-A-G | MVK | c.678-781A>G | - | IntronicSNV | - | 7/10 |
9-126380439-A-G | DENND1A | c.720-8679T>C | - | IntronicSNV | - | 10/20 |
11-13303085-A-G | ARNTL | c.-263+3615A>G | - | intron_variant | - | 1/19 |
14-75286705-T-C | YLPM1 | c.6031-1055T>C | - | IntronicSNV | - | 16/20 |
10-104942244-T-G | NT5C2 | c.-122-1159A>C | - | intron_variant | - | 1/18 |
17-43897130-A-G | CRHR1 | c.242-1591A>G | - | IntronicSNV | - | 3/13 |
7-127381201-T-A | SND1 | c.1152+19747T>A | - | IntronicSNV | - | 10/23 |
6-32014575-A-G | TNXB | c.10319-342T>C | - | IntronicSNV | - | 30/43 |
3-52852538-G-T | ITIH4 | c.2092C>A | p.Pro698Thr | Missense | 18/24 | - |
17-44078892-G-A | MAPT | c.1773+4862G>A | - | IntronicSNV | - | 10/13 |
22-41646738-A-G | RANGAP1 | c.1483+273T>C | - | IntronicSNV | - | 13/15 |
18-31581247-C-T | NOL4 | c.1056+18035G>A | - | IntronicSNV | - | 6/10 |
1-8537058-C-A | RERE | c.1105-10975G>T | - | IntronicSNV | - | 10/22 |
1-8537058-C-T | RERE | c.1105-10975G>A | - | IntronicSNV | - | 10/22 |
1-8537058-C-G | RERE | c.1105-10975G>C | - | IntronicSNV | - | 10/22 |
20-18517520-A-G | SEC23B | c.1404+1134A>G | - | IntronicSNV | - | 12/19 |
17-43989909-A-G | MAPT | c.-18+17857A>G | - | intron_variant | - | 1/13 |
17-44045974-C-T | MAPT | c.134-3251C>T | - | IntronicSNV | - | 2/13 |
2-23994431-G-A | ATAD2B | c.3134-5933C>T | - | IntronicSNV | - | 22/27 |
12-109993603-C-A | MMAB | c.*1230G>T | - | 3-UTRSNV | 9/9 | - |
2-23994431-G-C | ATAD2B | c.3134-5933C>G | - | IntronicSNV | - | 22/27 |
7-126386377-C-G | GRM8 | c.1357+23542G>C | - | IntronicSNV | - | 7/10 |
7-126386377-C-T | GRM8 | c.1357+23542G>A | - | IntronicSNV | - | 7/10 |
3-49689210-G-A | BSN | c.2221G>A | p.Ala741Thr | Missense | 5/12 | - |
5-64857063-A-G | CENPK | c.-40+227T>C | - | intron_variant | - | 2/10 |
17-44056767-G-A | MAPT | c.373+961G>A | - | IntronicSNV | - | 5/13 |
17-43548481-A-G | PLEKHM1 | c.924-2522T>C | - | IntronicSNV | - | 4/11 |
17-44005329-G-A | MAPT | c.-18+33277G>A | - | intron_variant | - | 1/13 |
12-16752099-A-T | LMO3 | c.206+1490T>A | - | IntronicSNV | - | 2/3 |
3-50199015-T-C | SEMA3F | c.112+1848T>C | - | IntronicSNV | - | 2/18 |
20-33334540-T-C | NCOA6 | c.2914+71A>G | - | IntronicSNV | - | 10/14 |
1-197622528-C-A | DENND1B | c.367-1083G>T | - | IntronicSNV | - | 6/15 |
3-136007333-A-T | PCCB | c.654+4544A>T | - | IntronicSNV | - | 6/14 |
11-47589707-C-G | PTPMT1 | c.256-1545C>G | - | IntronicSNV | - | 2/3 |
10-104767185-T-G | CNNM2 | c.1622-42279T>G | - | IntronicSNV | - | 1/7 |
2-23900629-C-T | KLHL29 | c.941-6640C>T | - | IntronicSNV | - | 5/13 |
17-43500477-G-A | ARHGAP27 | c.-367+2453C>T | - | intron_variant | - | 1/16 |
11-50003191-C-A | OR4C12 | c.847G>T | p.Val283Leu | Missense | 1/1 | - |
17-43993376-T-G | MAPT | c.-18+21324T>G | - | intron_variant | - | 1/13 |
11-112867061-A-G | NCAM1 | c.52+34675A>G | - | intron_variant | - | 2/19 |
7-114300717-T-C | FOXP2 | c.1647+989T>C | - | IntronicSNV | - | 13/16 |
7-126373932-C-T | GRM8 | c.1357+35987G>A | - | IntronicSNV | - | 7/10 |
17-44133403-T-C | KANSL1 | c.1849-5333A>G | - | IntronicSNV | - | 6/14 |
17-44048323-G-T | MAPT | c.134-902G>T | - | IntronicSNV | - | 2/13 |
18-50807359-A-G | DCC | c.1912-24589A>G | - | IntronicSNV | - | 12/28 |
9-96406858-A-G | PHF2 | c.300-1053A>G | - | IntronicSNV | - | 3/21 |
3-65445527-G-A | MAGI1 | c.960-6512C>T | - | IntronicSNV | - | 5/22 |
3-65445527-G-C | MAGI1 | c.960-6512C>G | - | IntronicSNV | - | 5/22 |
14-75255659-C-T | YLPM1 | c.2282+6631C>T | - | IntronicSNV | - | 4/20 |
6-31709778-A-G | MSH5 | c.271+715A>G | - | IntronicSNV | - | 3/24 |
12-118838779-T-C | SUDS3 | c.613+220T>C | - | IntronicSNV | - | 7/11 |
17-43908826-T-G | CRHR1 | c.857+520T>G | - | IntronicSNV | - | 9/13 |
12-16745863-C-G | LMO3 | c.206+7726G>C | - | IntronicSNV | - | 2/3 |
16-31102321-C-T | VKORC1 | c.*134G>A | - | 3-UTRSNV | 3/3 | - |
3-52849549-T-C | ITIH4 | c.2472-1170A>G | - | IntronicSNV | - | 21/23 |
3-136007333-A-G | PCCB | c.654+4544A>G | - | IntronicSNV | - | 6/14 |
7-69957025-A-G | AUTS2 | c.690+56258A>G | - | IntronicSNV | - | 5/17 |
7-69957025-A-T | AUTS2 | c.690+56258A>T | - | IntronicSNV | - | 5/17 |
2-23900629-C-G | KLHL29 | c.941-6640C>G | - | IntronicSNV | - | 5/13 |
11-13301335-T-G | ARNTL | c.-263+1865T>G | - | intron_variant | - | 1/19 |
11-57443842-G-A | ZDHHC5 | c.104+3176G>A | - | IntronicSNV | - | 2/11 |
9-96325756-G-T | FAM120A | c.3046-755G>T | - | IntronicSNV | - | 17/17 |
5-139665181-T-C | PFDN1 | c.201-4063A>G | - | IntronicSNV | - | 2/3 |
11-50003191-C-T | OR4C12 | c.847G>A | p.Val283Met | Missense | 1/1 | - |
11-112865115-A-G | NCAM1 | c.52+32729A>G | - | intron_variant | - | 2/19 |
2-24165511-A-C | UBXN2A | c.-15+1993A>C | - | intron_variant | - | 1/6 |
15-83309108-T-C | CPEB1 | c.15+7499A>G | - | IntronicSNV | - | 1/11 |
17-44058928-G-A | MAPT | c.374-1616G>A | - | IntronicSNV | - | 5/13 |
18-63549860-C-T | CDH7 | c.*1730C>T | - | IntergenicSNV | 12/12 | - |
14-75377555-C-A | RPS6KL1 | c.664+396G>T | - | IntronicSNV | - | 7/11 |
7-126346559-T-C | GRM8 | c.1357+63360A>G | - | IntronicSNV | - | 7/10 |
11-57452543-G-T | ZDHHC5 | c.226+2528G>T | - | IntronicSNV | - | 3/11 |
17-44863413-T-C | WNT3 | c.81-12138A>G | - | IntronicSNV | - | 1/4 |
18-31612425-C-A | NOL4 | c.773-12860G>T | - | IntronicSNV | - | 5/10 |
18-31612425-C-G | NOL4 | c.773-12860G>C | - | IntronicSNV | - | 5/10 |
17-44161302-A-G | KANSL1 | c.1432-1394T>C | - | IntronicSNV | - | 3/14 |
18-31612425-C-T | NOL4 | c.773-12860G>A | - | IntronicSNV | - | 5/10 |
18-53248151-T-C | TCF4 | c.145+4360A>G | - | IntronicSNV | - | 3/19 |
9-126441397-G-A | DENND1A | c.303-2329C>T | - | IntronicSNV | - | 5/20 |
6-28297313-T-C | ZSCAN31 | c.148A>G | p.Thr50Ala | Missense | 2/4 | - |
1-8445360-C-T | RERE | c.1285-19326G>A | - | IntronicSNV | - | 12/22 |
17-44186894-A-C | KANSL1 | c.1290-14827T>G | - | IntronicSNV | - | 2/14 |
7-126385589-A-G | GRM8 | c.1357+24330T>C | - | IntronicSNV | - | 7/10 |
17-44111827-C-A | KANSL1 | c.2542-176G>T | - | IntronicSNV | - | 10/14 |
5-64849701-C-T | CENPK | c.111+923G>A | - | IntronicSNV | - | 3/10 |
11-13357183-G-A | ARNTL | c.-135+9169G>A | - | intron_variant | - | 3/19 |
9-126509806-A-G | DENND1A | c.302+10176T>C | - | IntronicSNV | - | 5/20 |
17-44822662-A-G | NSF | c.1909-4477A>G | - | IntronicSNV | - | 17/20 |
11-113268059-G-T | ANKK1 | c.952G>T | p.Gly318Trp | Missense | 6/8 | - |
5-139630862-C-G | PFDN1 | c.286-5220G>C | - | IntronicSNV | - | 3/3 |
5-139630862-C-T | PFDN1 | c.286-5220G>A | - | IntronicSNV | - | 3/3 |
2-148754206-G-A | ORC4 | c.1-20679C>T | - | IntronicSNV | - | 1/13 |
6-31605199-G-C | PRRC2A | c.6334-24G>C | - | IntronicSNV | - | 30/30 |
11-13306311-T-G | ARNTL | c.-263+6841T>G | - | intron_variant | - | 1/19 |
11-13306311-T-A | ARNTL | c.-263+6841T>A | - | intron_variant | - | 1/19 |
11-112837740-T-A | NCAM1 | c.52+5354T>A | - | intron_variant | - | 2/19 |
9-96362923-A-T | PHF2 | c.98+23770A>T | - | IntronicSNV | - | 1/21 |
17-8932119-A-G | NTN1 | c.1018+5411A>G | - | IntronicSNV | - | 2/6 |
17-44243979-C-T | KANSL1 | c.1289+4242G>A | - | IntronicSNV | - | 2/14 |
5-64839062-C-A | CENPK | c.242-387G>T | - | IntronicSNV | - | 5/10 |
17-44043636-C-T | MAPT | c.133+3800C>T | - | IntronicSNV | - | 2/13 |
5-64839062-C-T | CENPK | c.242-387G>A | - | IntronicSNV | - | 5/10 |
11-47390692-A-G | SPI1 | c.142+6492T>C | - | IntronicSNV | - | 2/4 |
18-50688149-T-C | DCC | c.1418+4267T>C | - | IntronicSNV | - | 8/28 |
18-50688149-T-A | DCC | c.1418+4267T>A | - | IntronicSNV | - | 8/28 |
5-153669155-G-T | GALNT10 | c.160-5221G>T | - | IntronicSNV | - | 1/11 |
5-153669155-G-C | GALNT10 | c.160-5221G>C | - | IntronicSNV | - | 1/11 |
3-50375066-C-T | RASSF1 | c.-97+2921G>A | - | intron_variant | - | 1/4 |
11-47650993-C-T | MTCH2 | c.540-395G>A | - | IntronicSNV | - | 8/12 |
22-41700361-A-G | ZC3H7B | c.-7+2585A>G | - | intron_variant | - | 1/22 |
20-18733164-A-G | DTD1 | c.*8268A>G | - | IntronicSNV | - | 5/5 |
17-44022577-A-C | MAPT | c.1-17127A>C | - | IntronicSNV | - | 1/13 |
3-157902396-A-G | RSRC1 | c.321-18465A>G | - | IntronicSNV | - | 3/9 |
3-157902396-A-T | RSRC1 | c.321-18465A>T | - | IntronicSNV | - | 3/9 |
17-44002555-A-G | MAPT | c.-18+30503A>G | - | intron_variant | - | 1/13 |
11-47116823-T-C | C11orf49 | c.281-42373T>C | - | IntronicSNV | - | 3/8 |
5-139646026-A-G | PFDN1 | c.285+15008T>C | - | IntronicSNV | - | 3/3 |
17-44013103-G-A | MAPT | c.1-26601G>A | - | IntronicSNV | - | 1/13 |
16-31081460-C-T | ZNF668 | c.-23+3520G>A | - | intron_variant | - | 1/2 |
1-8564301-C-T | RERE | c.879+4385G>A | - | IntronicSNV | - | 8/22 |
17-44182917-C-G | KANSL1 | c.1290-10850G>C | - | IntronicSNV | - | 2/14 |
1-8564301-C-G | RERE | c.879+4385G>C | - | IntronicSNV | - | 8/22 |
3-136110506-C-G | STAG1 | c.2277+7085G>C | - | IntronicSNV | - | 22/33 |
20-18734839-T-C | DTD1 | c.*20-9165T>C | - | intron_variant | - | 5/5 |
1-8469337-A-G | RERE | c.1284+13450T>C | - | IntronicSNV | - | 12/22 |
17-44116312-T-C | KANSL1 | c.2392+81A>G | - | IntronicSNV | - | 9/14 |
17-44216226-A-G | KANSL1 | c.1289+31995T>C | - | IntronicSNV | - | 2/14 |
11-47689343-C-T | AGBL2 | c.2215-95G>A | - | IntronicSNV | - | 15/18 |
9-127858106-A-C | SCAI | c.99-29769T>G | - | IntronicSNV | - | 2/18 |
17-44074613-A-G | MAPT | c.1773+583A>G | - | IntronicSNV | - | 10/13 |
11-57570680-C-A | CTNND1 | c.1421-413C>A | - | IntronicSNV | - | 7/18 |
3-136004925-C-T | PCCB | c.654+2136C>T | - | IntronicSNV | - | 6/14 |
3-136337029-G-C | STAG1 | c.132+4959C>G | - | IntronicSNV | - | 3/33 |
19-32974738-A-T | DPY19L3 | c.*1592A>T | - | 3-UTRSNV | 19/19 | - |
11-112854935-G-A | NCAM1 | c.52+22549G>A | - | intron_variant | - | 2/19 |
7-126278971-A-C | GRM8 | c.1358-29419T>G | - | IntronicSNV | - | 7/10 |
5-64832555-T-A | CENPK | c.288+6074A>T | - | IntronicSNV | - | 6/10 |
1-8732454-A-C | RERE | c.1-16098T>G | - | IntronicSNV | - | 1/22 |
7-2090387-C-A | MAD1L1 | c.1218+18442G>T | - | IntronicSNV | - | 12/18 |
18-50689522-T-A | DCC | c.1418+5640T>A | - | IntronicSNV | - | 8/28 |
5-139636570-T-C | PFDN1 | c.286-10928A>G | - | IntronicSNV | - | 3/3 |
17-44013103-G-T | MAPT | c.1-26601G>T | - | IntronicSNV | - | 1/13 |
7-126380374-T-C | GRM8 | c.1357+29545A>G | - | IntronicSNV | - | 7/10 |
11-47696214-A-T | AGBL2 | c.2147+2609T>A | - | IntronicSNV | - | 14/18 |
2-24045734-C-G | ATAD2B | c.2131+394G>C | - | IntronicSNV | - | 16/27 |
1-8677774-A-T | RERE | c.397-3029T>A | - | IntronicSNV | - | 3/22 |
1-8677774-A-C | RERE | c.397-3029T>G | - | IntronicSNV | - | 3/22 |
3-136110018-C-T | STAG1 | c.2277+7573G>A | - | IntronicSNV | - | 22/33 |
16-30989858-T-C | SETD1A | c.3359-608T>C | - | IntronicSNV | - | 13/18 |
17-44006130-T-C | MAPT | c.1-33574T>C | - | IntronicSNV | - | 1/13 |
17-44041107-G-A | MAPT | c.133+1271G>A | - | IntronicSNV | - | 2/13 |
3-136275528-G-C | STAG1 | c.394+12079C>G | - | IntronicSNV | - | 5/33 |
14-69681718-T-G | EXD2 | c.333+5198T>G | - | IntronicSNV | - | 3/9 |
17-44108100-C-G | KANSL1 | c.*742G>C | - | 3-UTRSNV | 15/15 | - |
3-52985319-G-C | SFMBT1 | c.123+3014C>G | - | IntronicSNV | - | 3/20 |
7-1892529-C-T | MAD1L1 | c.1999-36665G>A | - | IntronicSNV | - | 18/18 |
7-38911498-A-T | VPS41 | c.61-2645T>A | - | IntronicSNV | - | 2/28 |
6-31632134-C-T | GPANK1 | c.122G>A | p.Arg41Gln | Missense | 2/3 | - |
5-64845719-T-A | CENPK | c.241+1672A>T | - | IntronicSNV | - | 5/10 |
5-64845719-T-C | CENPK | c.241+1672A>G | - | IntronicSNV | - | 5/10 |
20-33140999-G-A | MAP1LC3A | c.52+3166G>A | - | IntronicSNV | - | 2/4 |
11-13320533-C-T | ARNTL | c.-262-11001C>T | - | intron_variant | - | 1/19 |
3-52972468-C-A | SFMBT1 | c.365-3551G>T | - | IntronicSNV | - | 4/20 |
3-52972468-C-T | SFMBT1 | c.365-3551G>A | - | IntronicSNV | - | 4/20 |
7-126479218-G-A | GRM8 | c.1156+63378C>T | - | IntronicSNV | - | 6/10 |
2-24087857-A-G | ATAD2B | c.1189-63T>C | - | IntronicSNV | - | 10/27 |
6-31632134-C-A | GPANK1 | c.122G>T | p.Arg41Leu | Missense | 2/3 | - |
3-136275528-G-A | STAG1 | c.394+12079C>T | - | IntronicSNV | - | 5/33 |
11-47733494-G-A | AGBL2 | c.98-1431C>T | - | IntronicSNV | - | 3/18 |
7-137075847-T-A | DGKI | c.*119A>T | - | 3-UTRSNV | 34/34 | - |
11-13305263-G-A | ARNTL | c.-263+5793G>A | - | intron_variant | - | 1/19 |
11-47707156-T-C | AGBL2 | c.1788+289A>G | - | IntronicSNV | - | 11/18 |
17-16158774-A-C | PIGL | c.335+21390A>C | - | IntronicSNV | - | 2/6 |
22-41658632-C-G | RANGAP1 | c.481-1048G>C | - | IntronicSNV | - | 5/15 |
11-112876886-G-A | NCAM1 | c.52+44500G>A | - | intron_variant | - | 2/19 |
17-44169581-T-C | KANSL1 | c.1431+2345A>G | - | IntronicSNV | - | 3/14 |
18-53131488-C-G | TCF4 | c.146-120G>C | - | IntronicSNV | - | 3/19 |
6-105423931-G-C | LIN28B | c.198+17770G>C | - | IntronicSNV | - | 2/3 |
11-47378396-C-T | SPI1 | c.494-1299G>A | - | IntronicSNV | - | 4/4 |
7-126374756-C-T | GRM8 | c.1357+35163G>A | - | IntronicSNV | - | 7/10 |
17-43534694-C-T | PLEKHM1 | c.1579+841G>A | - | IntronicSNV | - | 6/11 |
11-13318431-C-T | ARNTL | c.-262-13103C>T | - | intron_variant | - | 1/19 |
18-50832102-A-G | DCC | c.2053+13A>G | - | IntronicSNV | - | 13/28 |
8-141672565-C-T | PTK2 | c.3012+2451G>A | - | IntronicSNV | - | 31/31 |
5-139640476-A-G | PFDN1 | c.286-14834T>C | - | IntronicSNV | - | 3/3 |
10-104850835-A-G | NT5C2 | c.1212-82T>C | - | IntronicSNV | - | 16/18 |
1-174898363-A-G | RABGAP1L | c.298-28231A>G | - | IntronicSNV | - | 2/8 |
5-139654664-G-A | PFDN1 | c.285+6370C>T | - | IntronicSNV | - | 3/3 |
2-24102691-A-G | ATAD2B | c.901+818T>C | - | IntronicSNV | - | 7/27 |
6-25862466-C-T | SLC17A3 | c.298G>A | p.Ala100Thr | Missense | 3/13 | - |
17-43896032-C-T | CRHR1 | c.241+2084C>T | - | IntronicSNV | - | 3/13 |
11-47391039-C-T | SPI1 | c.142+6145G>A | - | IntronicSNV | - | 2/4 |
1-8607024-G-A | RERE | c.726-5647C>T | - | IntronicSNV | - | 6/22 |
17-43549608-G-T | PLEKHM1 | c.923+2858C>A | - | IntronicSNV | - | 4/11 |
18-53107115-G-A | TCF4 | c.304+21135C>T | - | IntronicSNV | - | 5/19 |
2-148637462-A-G | ACVR2A | c.56-16408A>G | - | IntronicSNV | - | 1/10 |
2-148637462-A-C | ACVR2A | c.56-16408A>C | - | IntronicSNV | - | 1/10 |
1-8503379-C-G | RERE | c.1204-20512G>C | - | IntronicSNV | - | 11/22 |
11-57540458-C-A | CTNND1 | c.-214+10867C>A | - | intron_variant | - | 1/18 |
17-44192618-A-G | KANSL1 | c.1290-20551T>C | - | IntronicSNV | - | 2/14 |
7-126293186-T-C | GRM8 | c.1358-43634A>G | - | IntronicSNV | - | 7/10 |
9-96368656-T-C | PHF2 | c.99-23596T>C | - | IntronicSNV | - | 1/21 |
10-104657300-T-C | AS3MT | c.1021-3050T>C | - | IntronicSNV | - | 10/10 |
17-43488792-T-C | ARHGAP27 | c.1-5709A>G | - | IntronicSNV | - | 1/16 |
2-148747978-G-A | ORC4 | c.1-14451C>T | - | IntronicSNV | - | 1/13 |
11-47604639-C-T | NDUFS3 | c.627+619C>T | - | IntronicSNV | - | 6/6 |
18-53131488-C-T | TCF4 | c.146-120G>A | - | IntronicSNV | - | 3/19 |
21-41464434-G-A | DSCAM | c.3850+1214C>T | - | IntronicSNV | - | 21/32 |
7-126285212-G-T | GRM8 | c.1358-35660C>A | - | IntronicSNV | - | 7/10 |
17-43911898-C-T | CRHR1 | c.1195-92C>T | - | IntronicSNV | - | 13/13 |
9-96381916-T-C | PHF2 | c.99-10336T>C | - | IntronicSNV | - | 1/21 |
11-47868853-C-A | NUP160 | c.314+547G>T | - | IntronicSNV | - | 2/35 |
11-47868853-C-G | NUP160 | c.314+547G>C | - | IntronicSNV | - | 2/35 |
17-43896032-C-G | CRHR1 | c.241+2084C>G | - | IntronicSNV | - | 3/13 |
7-126284171-T-A | GRM8 | c.1358-34619A>T | - | IntronicSNV | - | 7/10 |
6-31745464-G-A | VARS | c.3727-25C>T | - | IntronicSNV | - | 29/29 |
18-53204864-C-T | TCF4 | c.145+47647G>A | - | IntronicSNV | - | 3/19 |
11-47558858-G-A | CELF1 | c.-11+15686C>T | - | intron_variant | - | 1/13 |
11-112892570-G-A | NCAM1 | c.52+60184G>A | - | intron_variant | - | 2/19 |
17-44197032-T-C | KANSL1 | c.1290-24965A>G | - | IntronicSNV | - | 2/14 |
7-126393571-T-G | GRM8 | c.1357+16348A>C | - | IntronicSNV | - | 7/10 |
1-72732923-T-C | NEGR1 | c.176+15079A>G | - | IntronicSNV | - | 1/6 |
17-44194381-T-A | KANSL1 | c.1290-22314A>T | - | IntronicSNV | - | 2/14 |
11-113296274-A-G | DRD2 | c.1-901T>C | - | IntronicSNV | - | 1/7 |
11-57585662-C-T | CTNND1 | c.*1882C>T | - | 3-UTRSNV | 19/19 | - |
11-113299829-G-A | DRD2 | c.1-4456C>T | - | IntronicSNV | - | 1/7 |
17-44000610-G-T | MAPT | c.-18+28558G>T | - | intron_variant | - | 1/13 |
18-53109202-C-T | TCF4 | c.304+19048G>A | - | IntronicSNV | - | 5/19 |
17-44000610-G-A | MAPT | c.-18+28558G>A | - | intron_variant | - | 1/13 |
18-35129076-C-A | CELF4 | c.286+16243G>T | - | IntronicSNV | - | 1/12 |
17-44052009-T-C | MAPT | c.307+172T>C | - | IntronicSNV | - | 4/13 |
18-35129076-C-T | CELF4 | c.286+16243G>A | - | IntronicSNV | - | 1/12 |
7-12270815-C-T | TMEM106B | c.686+74C>T | - | IntronicSNV | - | 8/8 |
17-43896637-T-C | CRHR1 | c.242-2084T>C | - | IntronicSNV | - | 3/13 |
17-43896637-T-A | CRHR1 | c.242-2084T>A | - | IntronicSNV | - | 3/13 |
2-148866193-A-T | MBD5 | c.-924-70076A>T | - | intron_variant | - | 2/14 |
18-53101904-C-T | TCF4 | c.304+26346G>A | - | IntronicSNV | - | 5/19 |
18-35129579-A-G | CELF4 | c.286+15740T>C | - | IntronicSNV | - | 1/12 |
11-47728617-G-A | AGBL2 | c.233-1148C>T | - | IntronicSNV | - | 4/18 |
20-18629895-G-C | DTD1 | c.477+21018G>C | - | IntronicSNV | - | 4/5 |
17-43565840-G-A | PLEKHM1 | c.-42+2178C>T | - | intron_variant | - | 1/11 |
9-28573187-C-A | LINGO2 | c.-365+97011G>T | - | intron_variant | - | 2/6 |
12-109994870-A-T | MMAB | c.716T>A | p.Met239Lys | Missense | 9/9 | - |
17-44225802-C-A | KANSL1 | c.1289+22419G>T | - | IntronicSNV | - | 2/14 |
17-44225802-C-T | KANSL1 | c.1289+22419G>A | - | IntronicSNV | - | 2/14 |
3-107299698-A-G | BBX | c.-84+54453A>G | - | intron_variant | - | 2/16 |
1-8653733-C-A | RERE | c.522+20887G>T | - | IntronicSNV | - | 4/22 |
11-57465389-C-T | ZDHHC5 | c.1123-642C>T | - | IntronicSNV | - | 10/11 |
1-8463176-T-C | RERE | c.1284+19611A>G | - | IntronicSNV | - | 12/22 |
1-8463176-T-A | RERE | c.1284+19611A>T | - | IntronicSNV | - | 12/22 |
17-44056833-G-T | MAPT | c.373+1027G>T | - | IntronicSNV | - | 5/13 |
16-7666407-A-T | RBFOX1 | c.736+9067A>T | - | IntronicSNV | - | 7/12 |
10-104898337-C-T | NT5C2 | c.175+826G>A | - | IntronicSNV | - | 4/18 |
17-43894609-A-G | CRHR1 | c.241+661A>G | - | IntronicSNV | - | 3/13 |
7-12269417-C-G | TMEM106B | c.554C>G | p.Thr185Ser | Missense | 6/9 | - |
9-127851192-A-G | SCAI | c.99-22855T>C | - | IntronicSNV | - | 2/18 |
17-44151156-T-G | KANSL1 | c.1534-6123A>C | - | IntronicSNV | - | 4/14 |
17-44151156-T-C | KANSL1 | c.1534-6123A>G | - | IntronicSNV | - | 4/14 |
7-126278756-T-C | GRM8 | c.1358-29204A>G | - | IntronicSNV | - | 7/10 |
8-10182469-A-G | MSRA | c.543+4970A>G | - | IntronicSNV | - | 5/5 |
22-41714912-G-A | ZC3H7B | c.1-1753G>A | - | IntronicSNV | - | 1/22 |
14-75251440-A-G | YLPM1 | c.2282+2412A>G | - | IntronicSNV | - | 4/20 |
11-112860893-A-T | NCAM1 | c.52+28507A>T | - | intron_variant | - | 2/19 |
7-38934219-G-A | VPS41 | c.60+3472C>T | - | IntronicSNV | - | 2/28 |
11-47836062-T-C | NUP160 | c.1686+969A>G | - | IntronicSNV | - | 13/35 |
11-47836062-T-A | NUP160 | c.1686+969A>T | - | IntronicSNV | - | 13/35 |
9-127844779-G-A | SCAI | c.99-16442C>T | - | IntronicSNV | - | 2/18 |
3-136290529-C-G | STAG1 | c.298-2826G>C | - | IntronicSNV | - | 4/33 |
20-33342439-T-C | NCOA6 | c.1675+86A>G | - | IntronicSNV | - | 8/14 |
9-127972408-C-T | RABEPK | c.211+2408C>T | - | IntronicSNV | - | 3/7 |
3-35724256-T-C | ARPP21 | c.130-84T>C | - | IntronicSNV | - | 2/4 |
11-47393303-A-T | SPI1 | c.142+3881T>A | - | IntronicSNV | - | 2/4 |
7-126391407-A-C | GRM8 | c.1357+18512T>G | - | IntronicSNV | - | 7/10 |
11-47397353-G-A | SPI1 | c.46-73C>T | - | IntronicSNV | - | 1/4 |
17-44210988-C-G | KANSL1 | c.1289+37233G>C | - | IntronicSNV | - | 2/14 |
9-23751700-C-T | ELAVL2 | c.229+10304G>A | - | IntronicSNV | - | 2/6 |
11-88972956-A-C | TYR | c.1184+11818A>C | - | IntronicSNV | - | 3/4 |
1-8691879-T-C | RERE | c.326-7440A>G | - | IntronicSNV | - | 2/22 |
17-44787313-G-C | NSF | c.1471-1016G>C | - | IntronicSNV | - | 13/20 |
17-44787313-G-A | NSF | c.1471-1016G>A | - | IntronicSNV | - | 13/20 |
18-50688612-T-A | DCC | c.1418+4730T>A | - | IntronicSNV | - | 8/28 |
18-50688612-T-C | DCC | c.1418+4730T>C | - | IntronicSNV | - | 8/28 |
18-50688612-T-G | DCC | c.1418+4730T>G | - | IntronicSNV | - | 8/28 |
16-87492449-T-G | ZCCHC14 | c.694+1165A>C | - | intron_variant | - | 2/12 |
17-44164133-G-A | KANSL1 | c.1432-4225C>T | - | IntronicSNV | - | 3/14 |
11-113303448-G-C | DRD2 | c.1-8075C>G | - | IntronicSNV | - | 1/7 |
17-44020545-A-G | MAPT | c.1-19159A>G | - | IntronicSNV | - | 1/13 |
3-52997871-T-A | SFMBT1 | c.28+5246A>T | - | IntronicSNV | - | 2/20 |
6-31734345-G-T | VWA7 | c.2079C>A | p.Ser693Ser | Synonymous | 14/17 | - |
10-104901031-A-G | NT5C2 | c.102-1795T>C | - | IntronicSNV | - | 3/18 |
20-33342439-T-A | NCOA6 | c.1675+86A>T | - | IntronicSNV | - | 8/14 |
2-144237036-T-G | ARHGAP15 | c.704-7906T>G | - | IntronicSNV | - | 8/13 |
17-43563894-T-C | PLEKHM1 | c.1-4044A>G | - | IntronicSNV | - | 1/11 |
7-126415495-A-T | GRM8 | c.1157-5376T>A | - | IntronicSNV | - | 6/10 |
11-13307095-A-G | ARNTL | c.-263+7625A>G | - | intron_variant | - | 1/19 |
2-24413595-C-T | FAM228A | c.*95C>T | - | 3-UTRSNV | 6/6 | - |
11-88972956-A-T | TYR | c.1184+11818A>T | - | IntronicSNV | - | 3/4 |
3-107385910-A-G | BBX | c.-10+21154A>G | - | intron_variant | - | 3/16 |
14-75287554-T-C | YLPM1 | c.6031-206T>C | - | IntronicSNV | - | 16/20 |
7-38940580-G-C | VPS41 | c.22-2851C>G | - | IntronicSNV | - | 1/28 |
17-44181454-C-T | KANSL1 | c.1290-9387G>A | - | IntronicSNV | - | 2/14 |
3-49417243-C-A | RHOA | c.1-4221G>T | - | IntronicSNV | - | 1/4 |
11-47716975-C-A | AGBL2 | c.695-3167G>T | - | IntronicSNV | - | 8/18 |
18-50810675-C-T | DCC | c.1912-21273C>T | - | IntronicSNV | - | 12/28 |
6-28268824-A-G | PGBD1 | c.1193A>G | p.Asn398Ser | Missense | 7/7 | - |
5-139633042-T-C | PFDN1 | c.286-7400A>G | - | IntronicSNV | - | 3/3 |
11-57493622-C-A | TMX2 | c.190-11458C>A | - | IntronicSNV | - | 1/7 |
10-106419364-C-T | SORCS3 | c.627+17652C>T | - | IntronicSNV | - | 1/26 |
17-44790203-A-G | NSF | c.1628-1016A>G | - | IntronicSNV | - | 14/20 |
1-8647917-G-C | RERE | c.522+26703C>G | - | IntronicSNV | - | 4/22 |
1-8647917-G-A | RERE | c.522+26703C>T | - | IntronicSNV | - | 4/22 |
7-126381640-C-T | GRM8 | c.1357+28279G>A | - | IntronicSNV | - | 7/10 |
11-47384597-A-G | SPI1 | c.143-3006T>C | - | IntronicSNV | - | 2/4 |
7-39198638-G-T | POU6F2 | c.191-45196G>T | - | IntronicSNV | - | 3/10 |
17-44129885-C-T | KANSL1 | c.1849-1815G>A | - | IntronicSNV | - | 6/14 |
6-31945230-C-T | STK19 | c.568-1450C>T | - | IntronicSNV | - | 3/7 |
6-25811404-C-T | SLC17A1 | c.1178+222G>A | - | IntronicSNV | - | 10/12 |
17-44109769-C-T | KANSL1 | c.2838-104G>A | - | IntronicSNV | - | 13/14 |
11-13307622-A-G | ARNTL | c.-263+8152A>G | - | intron_variant | - | 1/19 |
16-7667538-C-A | RBFOX1 | c.736+10198C>A | - | IntronicSNV | - | 7/12 |
3-52542919-T-G | STAB1 | c.2236-307T>G | - | IntronicSNV | - | 21/68 |
16-7667538-C-T | RBFOX1 | c.736+10198C>T | - | IntronicSNV | - | 7/12 |
8-10236559-G-T | MSRA | c.544-49099G>T | - | IntronicSNV | - | 5/5 |
3-52542919-T-C | STAB1 | c.2236-307T>C | - | IntronicSNV | - | 21/68 |
1-8733128-T-C | RERE | c.1-16772A>G | - | IntronicSNV | - | 1/22 |
5-107676255-A-G | FBXL17 | c.1506+7845T>C | - | IntronicSNV | - | 4/8 |
7-126372507-T-C | GRM8 | c.1357+37412A>G | - | IntronicSNV | - | 7/10 |
11-112843138-A-G | NCAM1 | c.52+10752A>G | - | intron_variant | - | 2/19 |
8-8661534-T-C | MFHAS1 | c.2999-6533A>G | - | IntronicSNV | - | 1/2 |
2-24225667-A-G | UBXN2A | c.*2930A>G | - | IntergenicSNV | 7/7 | - |
11-57463767-T-C | ZDHHC5 | c.1009+252T>C | - | IntronicSNV | - | 9/11 |
1-174850700-C-T | RABGAP1L | c.297+69602C>T | - | IntronicSNV | - | 2/8 |
11-13319894-A-G | ARNTL | c.-262-11640A>G | - | intron_variant | - | 1/19 |
8-14154462-C-T | SGCZ | c.336+27150G>A | - | IntronicSNV | - | 3/7 |
17-44217226-A-G | KANSL1 | c.1289+30995T>C | - | IntronicSNV | - | 2/14 |
3-136112109-A-C | STAG1 | c.2277+5482T>G | - | IntronicSNV | - | 22/33 |
9-96440808-C-A | PHF2 | c.*850C>A | - | 3-UTRSNV | 22/22 | - |
12-16747034-C-T | LMO3 | c.206+6555G>A | - | IntronicSNV | - | 2/3 |
17-43986992-G-C | MAPT | c.-18+14940G>C | - | intron_variant | - | 1/13 |
22-41753059-G-A | ZC3H7B | c.2682-122G>A | - | IntronicSNV | - | 22/22 |
11-47681370-T-G | AGBL2 | c.*355A>C | - | 3-UTRSNV | 19/19 | - |
17-43492416-G-A | ARHGAP27 | c.1-9333C>T | - | IntronicSNV | - | 1/16 |
7-126387127-A-G | GRM8 | c.1357+22792T>C | - | IntronicSNV | - | 7/10 |
15-83252807-A-G | CPEB1 | c.191-12525T>C | - | IntronicSNV | - | 2/11 |
11-47564785-A-G | CELF1 | c.-11+9759T>C | - | intron_variant | - | 1/13 |
17-43907966-G-A | CRHR1 | c.796+30G>A | - | IntronicSNV | - | 8/13 |
3-50306249-T-C | SEMA3B | c.1-424T>C | - | IntronicSNV | - | 1/18 |
17-44015929-G-A | MAPT | c.1-23775G>A | - | IntronicSNV | - | 1/13 |
3-50278717-G-C | GNAI2 | c.118+4832G>C | - | IntronicSNV | - | 1/8 |
12-110009054-G-T | MMAB | c.196+400C>A | - | IntronicSNV | - | 2/8 |
9-28680214-C-T | LINGO2 | c.-445-9936G>A | - | intron_variant | - | 1/6 |
22-41678351-T-A | RANGAP1 | c.1-1303A>T | - | IntronicSNV | - | 1/15 |
9-96429049-A-G | PHF2 | c.2188-313A>G | - | IntronicSNV | - | 16/21 |
17-44138201-T-C | KANSL1 | c.1848+5702A>G | - | IntronicSNV | - | 6/14 |
17-44151697-A-C | KANSL1 | c.1534-6664T>G | - | IntronicSNV | - | 4/14 |
1-8452725-T-C | RERE | c.1285-26691A>G | - | IntronicSNV | - | 12/22 |
1-8573717-C-T | RERE | c.831-4983G>A | - | IntronicSNV | - | 7/22 |
6-25817518-G-A | SLC17A1 | c.616+1778C>T | - | IntronicSNV | - | 6/12 |
6-31610529-A-G | BAG6 | c.1935+77T>C | - | IntronicSNV | - | 14/24 |
19-32841053-C-G | ZNF507 | c.1-2684C>G | - | IntronicSNV | - | 1/5 |
17-44089715-C-T | MAPT | c.1867-1894C>T | - | IntronicSNV | - | 11/13 |
20-32987687-T-C | ITCH | c.70+6000T>C | - | IntronicSNV | - | 3/25 |
11-113224017-C-T | TTC12 | c.1446+1088C>T | - | IntronicSNV | - | 16/21 |
17-44146336-A-C | KANSL1 | c.1534-1303T>G | - | IntronicSNV | - | 4/14 |
17-44204749-A-G | KANSL1 | c.1290-32682T>C | - | IntronicSNV | - | 2/14 |
12-118830006-G-C | SUDS3 | c.517+919G>C | - | IntronicSNV | - | 6/11 |
17-44151697-A-T | KANSL1 | c.1534-6664T>A | - | IntronicSNV | - | 4/14 |
11-57534542-C-G | CTNND1 | c.-214+4951C>G | - | intron_variant | - | 1/18 |
1-53712727-C-T | LRP8 | c.2855G>A | p.Arg952Gln | Missense | 19/19 | - |
16-30019375-A-C | DOC2A | c.528-755T>G | - | IntronicSNV | - | 5/10 |
12-117660827-C-G | NOS1 | c.3827-159G>C | - | IntronicSNV | - | 25/28 |
20-18719287-C-T | DTD1 | c.478-5457C>T | - | IntronicSNV | - | 4/5 |
5-139559014-T-G | CYSTM1 | c.-21+4144T>G | - | intron_variant | - | 1/2 |
12-109994870-A-G | MMAB | c.716T>C | p.Met239Thr | Missense | 9/9 | - |
7-114318097-C-T | FOXP2 | c.2004-11740C>T | - | IntronicSNV | - | 16/16 |
5-102606942-A-G | C5orf30 | c.1-4679A>G | - | IntronicSNV | - | 2/2 |
18-50620087-A-G | DCC | c.1261+27551A>G | - | IntronicSNV | - | 7/28 |
7-126442793-T-A | GRM8 | c.1157-32674A>T | - | IntronicSNV | - | 6/10 |
17-44073889-A-G | MAPT | c.1632A>G | p.Ala544Ala | Synonymous | 10/14 | - |
16-31133100-G-A | KAT8 | c.462+1265G>A | - | IntronicSNV | - | 3/10 |
17-44159631-T-G | KANSL1 | c.1533+176A>C | - | IntronicSNV | - | 4/14 |
7-39198119-C-T | POU6F2 | c.191-45715C>T | - | IntronicSNV | - | 3/10 |
16-31133100-G-T | KAT8 | c.462+1265G>T | - | IntronicSNV | - | 3/10 |
17-43986396-C-T | MAPT | c.-18+14344C>T | - | intron_variant | - | 1/13 |
9-28717480-T-C | LINGO2 | c.-446+1619A>G | - | intron_variant | - | 1/6 |
10-104752960-G-A | CNNM2 | c.1622-56504G>A | - | IntronicSNV | - | 1/7 |
16-7662500-G-A | RBFOX1 | c.736+5160G>A | - | IntronicSNV | - | 7/12 |
14-75384162-T-C | RPS6KL1 | c.483+1054A>G | - | IntronicSNV | - | 5/11 |
1-8486341-C-T | RERE | c.1204-3474G>A | - | IntronicSNV | - | 11/22 |
1-8486341-C-A | RERE | c.1204-3474G>T | - | IntronicSNV | - | 11/22 |
14-75384162-T-A | RPS6KL1 | c.483+1054A>T | - | IntronicSNV | - | 5/11 |
17-44145592-A-G | KANSL1 | c.1534-559T>C | - | IntronicSNV | - | 4/14 |
9-96421221-G-A | PHF2 | c.1240-572G>A | - | IntronicSNV | - | 10/21 |
1-8557320-C-G | RERE | c.1004+145G>C | - | IntronicSNV | - | 9/22 |
17-44204304-T-G | KANSL1 | c.1290-32237A>C | - | IntronicSNV | - | 2/14 |
9-96289743-C-T | FAM120A | c.1506+219C>T | - | IntronicSNV | - | 8/17 |
1-8716543-G-T | RERE | c.1-187C>A | - | IntronicSNV | - | 1/22 |
9-96414935-T-C | PHF2 | c.603-526T>C | - | IntronicSNV | - | 5/21 |
1-8504421-C-A | RERE | c.1204-21554G>T | - | IntronicSNV | - | 11/22 |
11-113296619-C-T | DRD2 | c.1-1246G>A | - | IntronicSNV | - | 1/7 |
11-113296619-C-A | DRD2 | c.1-1246G>T | - | IntronicSNV | - | 1/7 |
2-226483833-A-G | NYAP2 | c.1619-7800A>G | - | IntronicSNV | - | 4/5 |
17-44072017-C-T | MAPT | c.1508-1748C>T | - | IntronicSNV | - | 9/13 |
5-45634000-T-G | HCN1 | c.849+11287A>C | - | IntronicSNV | - | 2/7 |
11-113299910-C-T | DRD2 | c.1-4537G>A | - | IntronicSNV | - | 1/7 |
7-126442859-G-A | GRM8 | c.1157-32740C>T | - | IntronicSNV | - | 6/10 |
11-113294179-G-A | DRD2 | c.285+910C>T | - | IntronicSNV | - | 2/7 |
5-107612906-T-C | FBXL17 | c.1507-52977A>G | - | IntronicSNV | - | 4/8 |
11-112926259-T-C | NCAM1 | c.52+93873T>C | - | intron_variant | - | 2/19 |
17-44242969-T-C | KANSL1 | c.1289+5252A>G | - | IntronicSNV | - | 2/14 |
17-44267863-G-A | KANSL1 | c.-90+2326C>T | - | intron_variant | - | 1/14 |
17-44263479-T-C | KANSL1 | c.-90+6710A>G | - | intron_variant | - | 1/14 |
7-126284779-C-T | GRM8 | c.1358-35227G>A | - | IntronicSNV | - | 7/10 |
1-8741401-A-T | RERE | c.1-25045T>A | - | IntronicSNV | - | 1/22 |
5-45596159-G-C | HCN1 | c.849+49128C>G | - | IntronicSNV | - | 2/7 |
7-126388707-C-A | GRM8 | c.1357+21212G>T | - | IntronicSNV | - | 7/10 |
7-126388707-C-T | GRM8 | c.1357+21212G>A | - | IntronicSNV | - | 7/10 |
20-18684154-A-G | DTD1 | c.478-40590A>G | - | IntronicSNV | - | 4/5 |
2-23899807-A-G | KLHL29 | c.941-7462A>G | - | IntronicSNV | - | 5/13 |
11-112872305-A-G | NCAM1 | c.52+39919A>G | - | intron_variant | - | 2/19 |
17-44246211-A-G | KANSL1 | c.1289+2010T>C | - | IntronicSNV | - | 2/14 |
3-52852538-G-A | ITIH4 | c.2092C>T | p.Pro698Ser | Missense | 18/24 | - |
1-8728978-A-T | RERE | c.1-12622T>A | - | IntronicSNV | - | 1/22 |
17-44046202-C-T | MAPT | c.134-3023C>T | - | IntronicSNV | - | 2/13 |
9-98226395-A-C | PTCH1 | c.2561-2115T>G | - | IntronicSNV | - | 15/23 |
7-114115049-A-G | FOXP2 | c.168+48315A>G | - | IntronicSNV | - | 2/16 |
17-44019680-T-C | MAPT | c.1-20024T>C | - | IntronicSNV | - | 1/13 |
16-7667131-G-A | RBFOX1 | c.736+9791G>A | - | IntronicSNV | - | 7/12 |
1-8503379-C-A | RERE | c.1204-20512G>T | - | IntronicSNV | - | 11/22 |
11-47379646-A-C | SPI1 | c.493+749T>G | - | IntronicSNV | - | 4/4 |
14-75237770-C-T | YLPM1 | c.873+6705C>T | - | IntronicSNV | - | 1/20 |
18-50942653-C-T | DCC | c.3163+127C>T | - | IntronicSNV | - | 21/28 |
12-118803190-C-A | TAOK3 | c.-194+7263G>T | - | intron_variant | - | 1/20 |
5-64814592-T-G | CENPK | c.652-132A>C | - | IntronicSNV | - | 10/10 |
1-8653484-T-G | RERE | c.522+21136A>C | - | IntronicSNV | - | 4/22 |
1-8653484-T-A | RERE | c.522+21136A>T | - | IntronicSNV | - | 4/22 |
11-112912303-T-A | NCAM1 | c.52+79917T>A | - | intron_variant | - | 2/19 |
11-112912303-T-C | NCAM1 | c.52+79917T>C | - | intron_variant | - | 2/19 |
5-139628163-C-T | PFDN1 | c.286-2521G>A | - | IntronicSNV | - | 3/3 |
5-139628163-C-A | PFDN1 | c.286-2521G>T | - | IntronicSNV | - | 3/3 |
10-104913870-C-T | NT5C2 | c.102-14634G>A | - | IntronicSNV | - | 3/18 |
17-43992943-G-A | MAPT | c.-18+20891G>A | - | intron_variant | - | 1/13 |
7-82066457-T-C | CACNA2D1 | c.95+6224A>G | - | IntronicSNV | - | 1/38 |
17-43902861-C-A | CRHR1 | c.328-3720C>A | - | IntronicSNV | - | 4/13 |
6-31604591-C-T | PRRC2A | c.6016C>T | p.Pro2006Ser | Missense | 28/31 | - |
11-47301225-C-T | MADD | c.1290+595C>T | - | IntronicSNV | - | 7/32 |
9-96362629-G-A | PHF2 | c.98+23476G>A | - | IntronicSNV | - | 1/21 |
18-53109202-C-A | TCF4 | c.304+19048G>T | - | IntronicSNV | - | 5/19 |
11-113303674-T-C | DRD2 | c.1-8301A>G | - | IntronicSNV | - | 1/7 |
11-113296286-C-T | DRD2 | c.1-913G>A | - | IntronicSNV | - | 1/7 |
6-31739120-G-T | VWA7 | c.1088-1230C>A | - | IntronicSNV | - | 7/16 |
7-126506674-C-G | GRM8 | c.1156+35922G>C | - | IntronicSNV | - | 6/10 |
22-41565827-A-G | EP300 | c.4286+207A>G | - | IntronicSNV | - | 26/30 |
17-44192395-G-T | KANSL1 | c.1290-20328C>A | - | IntronicSNV | - | 2/14 |
17-43897480-A-G | CRHR1 | c.242-1241A>G | - | IntronicSNV | - | 3/13 |
7-1899447-A-T | MAD1L1 | c.1998+38389T>A | - | IntronicSNV | - | 18/18 |
3-136130677-A-G | STAG1 | c.2196+6050T>C | - | IntronicSNV | - | 21/33 |
1-8693324-T-A | RERE | c.326-8885A>T | - | IntronicSNV | - | 2/22 |
3-136444589-C-T | STAG1 | c.-84+26448G>A | - | intron_variant | - | 1/33 |
3-65446386-A-C | MAGI1 | c.960-7371T>G | - | IntronicSNV | - | 5/22 |
3-65446386-A-G | MAGI1 | c.960-7371T>C | - | IntronicSNV | - | 5/22 |
1-8549716-A-G | RERE | c.1104+5407T>C | - | IntronicSNV | - | 10/22 |
17-44211502-G-A | KANSL1 | c.1289+36719C>T | - | IntronicSNV | - | 2/14 |
18-50746748-C-G | DCC | c.1911+4781C>G | - | IntronicSNV | - | 12/28 |
18-50746748-C-T | DCC | c.1911+4781C>T | - | IntronicSNV | - | 12/28 |
3-136235908-T-C | STAG1 | c.676+4147A>G | - | IntronicSNV | - | 7/33 |
11-16345610-C-G | SOX6 | c.238-5411G>C | - | IntronicSNV | - | 2/15 |
17-43977827-C-T | MAPT | c.-18+5775C>T | - | intron_variant | - | 1/13 |
5-64840280-T-A | CENPK | c.242-1605A>T | - | IntronicSNV | - | 5/10 |
7-2083358-A-G | MAD1L1 | c.1218+25471T>C | - | IntronicSNV | - | 12/18 |
6-100983589-T-C | ASCC3 | c.5775+4450A>G | - | IntronicSNV | - | 37/41 |
7-127460455-T-C | SND1 | c.1242+12828T>C | - | IntronicSNV | - | 11/23 |
5-107467808-T-G | FBXL17 | c.1745+54010A>C | - | IntronicSNV | - | 6/8 |
16-7667797-G-T | RBFOX1 | c.736+10457G>T | - | IntronicSNV | - | 7/12 |
11-13349781-G-A | ARNTL | c.-135+1767G>A | - | intron_variant | - | 3/19 |
11-47547046-T-C | CELF1 | c.-11+27498A>G | - | intron_variant | - | 1/13 |
11-47547046-T-A | CELF1 | c.-11+27498A>T | - | intron_variant | - | 1/13 |
10-104864678-G-A | NT5C2 | c.389+785C>T | - | IntronicSNV | - | 6/18 |
3-52861211-A-T | ITIH4 | c.254T>A | p.Ile85Asn | Missense | 3/24 | - |
17-44001379-C-T | MAPT | c.-18+29327C>T | - | intron_variant | - | 1/13 |
7-1881527-G-C | MAD1L1 | c.1999-25663C>G | - | IntronicSNV | - | 18/18 |
6-101033379-A-T | ASCC3 | c.5550+4131T>A | - | IntronicSNV | - | 36/41 |
6-101033379-A-C | ASCC3 | c.5550+4131T>G | - | IntronicSNV | - | 36/41 |
20-18571509-G-A | DTD1 | c.43+2750G>A | - | IntronicSNV | - | 1/5 |
2-148763610-G-A | ORC4 | c.-18+15407C>T | - | intron_variant | - | 1/13 |
17-44162597-C-A | KANSL1 | c.1432-2689G>T | - | IntronicSNV | - | 3/14 |
11-47504075-G-T | CELF1 | c.687+172C>A | - | IntronicSNV | - | 7/13 |
2-212697656-A-G | ERBB4 | c.422-44772T>C | - | IntronicSNV | - | 3/26 |
17-43902997-G-A | CRHR1 | c.328-3584G>A | - | IntronicSNV | - | 4/13 |
3-136298879-G-A | STAG1 | c.298-11176C>T | - | IntronicSNV | - | 4/33 |
3-136027549-A-G | PCCB | c.966+7596A>G | - | IntronicSNV | - | 9/14 |
17-44147411-G-T | KANSL1 | c.1534-2378C>A | - | IntronicSNV | - | 4/14 |
17-43992283-A-C | MAPT | c.-18+20231A>C | - | intron_variant | - | 1/13 |
17-44075110-A-T | MAPT | c.1773+1080A>T | - | IntronicSNV | - | 10/13 |
17-79084574-C-T | BAIAP2 | c.1535+2265C>T | - | IntronicSNV | - | 13/13 |
14-75321714-T-C | PROX2 | c.*121A>G | - | 3-UTRSNV | 3/3 | - |
17-44145592-A-T | KANSL1 | c.1534-559T>A | - | IntronicSNV | - | 4/14 |
7-12263546-T-C | TMEM106B | c.282-306T>C | - | IntronicSNV | - | 4/8 |
17-43539968-G-A | PLEKHM1 | c.1309-4163C>T | - | IntronicSNV | - | 5/11 |
17-44179969-G-A | KANSL1 | c.1290-7902C>T | - | IntronicSNV | - | 2/14 |
3-53040546-A-G | SFMBT1 | c.1-37402T>C | - | IntronicSNV | - | 1/20 |
9-127894214-G-A | SCAI | c.98+10698C>T | - | IntronicSNV | - | 2/18 |
6-25818755-G-A | SLC17A1 | c.616+541C>T | - | IntronicSNV | - | 6/12 |
17-44148613-G-A | KANSL1 | c.1534-3580C>T | - | IntronicSNV | - | 4/14 |
6-32050067-T-C | TNXB | c.3482A>G | p.His1161Arg | Missense | 9/44 | - |
6-32050067-T-A | TNXB | c.3482A>T | p.His1161Leu | Missense | 9/44 | - |
1-8728978-A-C | RERE | c.1-12622T>G | - | IntronicSNV | - | 1/22 |
18-35125161-C-T | CELF4 | c.286+20158G>A | - | IntronicSNV | - | 1/12 |
17-44874453-C-T | WNT3 | c.80+21431G>A | - | IntronicSNV | - | 1/4 |
16-30999142-A-T | HSD3B7 | c.585A>T | p.Gln195His | Missense | 6/6 | - |
20-33310471-A-G | NCOA6 | c.6148+4592T>C | - | IntronicSNV | - | 14/14 |
9-96436925-T-G | PHF2 | c.2627-284T>G | - | IntronicSNV | - | 18/21 |
11-61571348-C-G | FADS1 | c.1054-109G>C | - | IntronicSNV | - | 7/11 |
16-30999142-A-G | HSD3B7 | c.585A>G | p.Gln195Gln | Synonymous | 6/6 | - |
1-8549741-C-T | RERE | c.1104+5382G>A | - | IntronicSNV | - | 10/22 |
11-113209428-C-G | TTC12 | c.577-68C>G | - | IntronicSNV | - | 8/21 |
17-44819565-C-T | NSF | c.1909-7574C>T | - | IntronicSNV | - | 17/20 |
17-44153144-A-G | KANSL1 | c.1533+6663T>C | - | IntronicSNV | - | 4/14 |
9-120001431-C-A | ASTN2 | c.631-24410G>T | - | IntronicSNV | - | 2/21 |
9-120001431-C-G | ASTN2 | c.631-24410G>C | - | IntronicSNV | - | 2/21 |
18-50898217-A-T | DCC | c.2360-14196A>T | - | IntronicSNV | - | 15/28 |
17-44194891-C-T | KANSL1 | c.1290-22824G>A | - | IntronicSNV | - | 2/14 |
16-87444694-C-G | ZCCHC14 | c.3205+428G>C | - | intron_variant | - | 12/12 |
17-44012915-T-C | MAPT | c.1-26789T>C | - | IntronicSNV | - | 1/13 |
7-126380847-T-G | GRM8 | c.1357+29072A>C | - | IntronicSNV | - | 7/10 |
3-136426822-A-T | STAG1 | c.-84+44215T>A | - | intron_variant | - | 1/33 |
11-47389676-C-G | SPI1 | c.142+7508G>C | - | IntronicSNV | - | 2/4 |
11-47382426-A-T | SPI1 | c.143-835T>A | - | IntronicSNV | - | 2/4 |
17-44223060-G-A | KANSL1 | c.1289+25161C>T | - | IntronicSNV | - | 2/14 |
17-44183616-C-A | KANSL1 | c.1290-11549G>T | - | IntronicSNV | - | 2/14 |
17-44183616-C-G | KANSL1 | c.1290-11549G>C | - | IntronicSNV | - | 2/14 |
2-148852515-C-G | MBD5 | c.-925+73262C>G | - | intron_variant | - | 2/14 |
5-64846236-G-A | CENPK | c.241+1155C>T | - | IntronicSNV | - | 5/10 |
2-63771769-C-T | WDPCP | c.75+43562G>A | - | IntronicSNV | - | 1/17 |
7-126272255-T-C | GRM8 | c.1358-22703A>G | - | IntronicSNV | - | 7/10 |
20-18630076-G-A | DTD1 | c.477+21199G>A | - | IntronicSNV | - | 4/5 |
7-127330584-T-C | SND1 | c.228+3768T>C | - | IntronicSNV | - | 2/23 |
10-104873761-G-C | NT5C2 | c.176-7298C>G | - | IntronicSNV | - | 4/18 |
11-133797581-A-T | IGSF9B | c.1632-595T>A | - | IntronicSNV | - | 12/19 |
1-174825667-C-G | RABGAP1L | c.297+44569C>G | - | IntronicSNV | - | 2/8 |
10-104697516-G-A | CNNM2 | c.1621+17658G>A | - | IntronicSNV | - | 1/7 |
17-44201344-G-C | KANSL1 | c.1290-29277C>G | - | IntronicSNV | - | 2/14 |
5-139660916-G-A | PFDN1 | c.285+118C>T | - | IntronicSNV | - | 3/3 |
17-43475929-G-A | ARHGAP27 | c.721-516C>T | - | IntronicSNV | - | 9/16 |
5-139581773-G-A | CYSTM1 | c.187+7536G>A | - | IntronicSNV | - | 2/2 |
18-35134259-C-T | CELF4 | c.286+11060G>A | - | IntronicSNV | - | 1/12 |
9-98250674-T-C | PTCH1 | c.395-2518A>G | - | IntronicSNV | - | 2/23 |
17-43922942-T-A | SPPL2C | c.670T>A | p.Ser224Thr | Missense | 1/1 | - |
17-44202608-C-A | KANSL1 | c.1290-30541G>T | - | IntronicSNV | - | 2/14 |
2-58299326-A-T | VRK2 | c.137-11898A>T | - | IntronicSNV | - | 2/12 |
11-47801101-A-G | NUP160 | c.4222-355T>C | - | IntronicSNV | - | 35/35 |
2-58299326-A-G | VRK2 | c.137-11898A>G | - | IntronicSNV | - | 2/12 |
17-44826056-C-G | NSF | c.1909-1083C>G | - | IntronicSNV | - | 17/20 |
11-112835024-T-G | NCAM1 | c.52+2638T>G | - | intron_variant | - | 2/19 |
11-57570680-C-T | CTNND1 | c.1421-413C>T | - | IntronicSNV | - | 7/18 |
17-44143484-G-A | KANSL1 | c.1848+419C>T | - | IntronicSNV | - | 6/14 |
17-44108100-C-T | KANSL1 | c.*742G>A | - | 3-UTRSNV | 15/15 | - |
22-41658632-C-T | RANGAP1 | c.481-1048G>A | - | IntronicSNV | - | 5/15 |
11-47841581-G-A | NUP160 | c.1278-571C>T | - | IntronicSNV | - | 9/35 |
3-136274435-G-A | STAG1 | c.394+13172C>T | - | IntronicSNV | - | 5/33 |
17-43971937-C-A | MAPT | c.-133C>A | - | 5_prime_UTR_variant | 1/14 | - |
7-69902152-T-C | AUTS2 | c.690+1385T>C | - | IntronicSNV | - | 5/17 |
4-3241845-C-T | HTT | c.*59C>T | - | 3-UTRSNV | 67/67 | - |
7-127405334-A-G | SND1 | c.1153-42204A>G | - | IntronicSNV | - | 10/23 |
9-96253451-C-T | FAM120A | c.805-6302C>T | - | IntronicSNV | - | 3/17 |
5-64847680-A-G | CENPK | c.169-217T>C | - | IntronicSNV | - | 4/10 |
7-69945232-A-G | AUTS2 | c.690+44465A>G | - | IntronicSNV | - | 5/17 |
17-44094471-G-A | MAPT | c.1949-1513G>A | - | IntronicSNV | - | 12/13 |
17-44062915-G-T | MAPT | c.1127-1491G>T | - | IntronicSNV | - | 6/13 |
17-44094471-G-T | MAPT | c.1949-1513G>T | - | IntronicSNV | - | 12/13 |
9-96372325-G-T | PHF2 | c.99-19927G>T | - | IntronicSNV | - | 1/21 |
1-173915909-G-C | RC3H1 | c.2803C>G | p.Pro935Ala | Missense | 16/20 | - |
9-96372325-G-A | PHF2 | c.99-19927G>A | - | IntronicSNV | - | 1/21 |
16-7666407-A-C | RBFOX1 | c.736+9067A>C | - | IntronicSNV | - | 7/12 |
9-28578700-C-T | LINGO2 | c.-365+91498G>A | - | intron_variant | - | 2/6 |
3-50290902-C-T | GNAI2 | c.464+286C>T | - | IntronicSNV | - | 4/8 |
16-7668003-A-G | RBFOX1 | c.736+10663A>G | - | IntronicSNV | - | 7/12 |
2-24413298-A-G | FAM228A | c.419A>G | p.Tyr140Cys | Missense | 6/6 | - |
14-75255115-G-T | YLPM1 | c.2282+6087G>T | - | IntronicSNV | - | 4/20 |
12-110033270-G-C | MVK | c.1039+284G>C | - | IntronicSNV | - | 10/10 |
14-75255115-G-C | YLPM1 | c.2282+6087G>C | - | IntronicSNV | - | 4/20 |
14-75255115-G-A | YLPM1 | c.2282+6087G>A | - | IntronicSNV | - | 4/20 |
22-41671732-G-A | RANGAP1 | c.113-1001C>T | - | IntronicSNV | - | 2/15 |
3-136435162-A-T | STAG1 | c.-84+35875T>A | - | intron_variant | - | 1/33 |
17-44186593-T-C | KANSL1 | c.1290-14526A>G | - | IntronicSNV | - | 2/14 |
12-109896165-T-C | KCTD10 | c.388-282A>G | - | IntronicSNV | - | 3/6 |
3-136435162-A-G | STAG1 | c.-84+35875T>C | - | intron_variant | - | 1/33 |
5-64817553-G-A | CENPK | c.598-198C>T | - | IntronicSNV | - | 9/10 |
5-64817553-G-C | CENPK | c.598-198C>G | - | IntronicSNV | - | 9/10 |
17-44072854-T-C | MAPT | c.1508-911T>C | - | IntronicSNV | - | 9/13 |
17-44848517-C-A | WNT3 | c.323-1103G>T | - | IntronicSNV | - | 2/4 |
9-96361585-T-C | PHF2 | c.98+22432T>C | - | IntronicSNV | - | 1/21 |
1-8468372-A-T | RERE | c.1284+14415T>A | - | IntronicSNV | - | 12/22 |
9-96414654-G-C | PHF2 | c.603-807G>C | - | IntronicSNV | - | 5/21 |
7-126150431-T-A | GRM8 | c.2430+22575A>T | - | IntronicSNV | - | 9/10 |
3-49162284-C-T | LAMB2 | c.2959G>A | p.Glu987Lys | Missense | 21/32 | - |
22-41616284-T-G | L3MBTL2 | c.719-454T>G | - | IntronicSNV | - | 6/16 |
5-64902091-C-T | TRIM23 | c.1045-1219G>A | - | IntronicSNV | - | 6/10 |
17-44068481-G-A | MAPT | c.1381-345G>A | - | IntronicSNV | - | 8/13 |
6-31841641-G-A | SLC44A4 | c.403+596C>T | - | IntronicSNV | - | 6/19 |
2-44957915-A-G | CAMKMT | c.624-12846A>G | - | IntronicSNV | - | 7/10 |
7-86294952-C-T | GRM3 | c.-141+20764C>T | - | intron_variant | - | 1/5 |
1-8712743-T-G | RERE | c.325+3289A>C | - | IntronicSNV | - | 2/22 |
1-8712743-T-C | RERE | c.325+3289A>G | - | IntronicSNV | - | 2/22 |
12-109997645-G-A | MMAB | c.585-685C>T | - | IntronicSNV | - | 7/8 |
1-174872429-C-T | RABGAP1L | c.298-54165C>T | - | IntronicSNV | - | 2/8 |
12-109997645-G-C | MMAB | c.585-685C>G | - | IntronicSNV | - | 7/8 |
17-43895653-A-G | CRHR1 | c.241+1705A>G | - | IntronicSNV | - | 3/13 |
7-126123306-G-A | GRM8 | c.2431-36880C>T | - | IntronicSNV | - | 9/10 |
17-43557612-G-A | PLEKHM1 | c.49-2099C>T | - | IntronicSNV | - | 2/11 |
1-8439625-C-A | RERE | c.1285-13591G>T | - | IntronicSNV | - | 12/22 |
1-8439625-C-G | RERE | c.1285-13591G>C | - | IntronicSNV | - | 12/22 |
7-126378842-A-G | GRM8 | c.1357+31077T>C | - | IntronicSNV | - | 7/10 |
11-47461783-A-G | RAPSN | c.966+927T>C | - | IntronicSNV | - | 6/7 |
2-24063266-C-T | ATAD2B | c.1569-6318G>A | - | IntronicSNV | - | 13/27 |
1-8704059-G-C | RERE | c.325+11973C>G | - | IntronicSNV | - | 2/22 |
2-148775937-G-A | ORC4 | c.-18+3080C>T | - | intron_variant | - | 1/13 |
17-44067400-T-C | MAPT | c.1339T>C | p.Ser447Pro | Missense | 8/14 | - |
17-44072041-T-A | MAPT | c.1508-1724T>A | - | IntronicSNV | - | 9/13 |
6-32729734-C-G | HLA-DQB2 | c.98-31G>C | - | IntronicSNV | - | 1/4 |
6-32729734-C-A | HLA-DQB2 | c.98-31G>T | - | IntronicSNV | - | 1/4 |
9-96365612-T-G | PHF2 | c.98+26459T>G | - | IntronicSNV | - | 1/21 |
17-44147599-G-C | KANSL1 | c.1534-2566C>G | - | IntronicSNV | - | 4/14 |
17-44149448-C-G | KANSL1 | c.1534-4415G>C | - | IntronicSNV | - | 4/14 |
10-104653545-T-C | AS3MT | c.1020+3110T>C | - | IntronicSNV | - | 10/10 |
17-44202608-C-T | KANSL1 | c.1290-30541G>A | - | IntronicSNV | - | 2/14 |
11-88701202-A-G | GRM5 | c.661+79178T>C | - | IntronicSNV | - | 2/8 |
5-153666790-C-G | GALNT10 | c.160-7586C>G | - | IntronicSNV | - | 1/11 |
5-153666790-C-T | GALNT10 | c.160-7586C>T | - | IntronicSNV | - | 1/11 |
17-44809001-A-G | NSF | c.1908+2701A>G | - | IntronicSNV | - | 17/20 |
3-136353193-T-A | STAG1 | c.1-3453A>T | - | IntronicSNV | - | 1/33 |
3-136353193-T-C | STAG1 | c.1-3453A>G | - | IntronicSNV | - | 1/33 |
3-136353193-T-G | STAG1 | c.1-3453A>C | - | IntronicSNV | - | 1/33 |
7-126421702-C-T | GRM8 | c.1157-11583G>A | - | IntronicSNV | - | 6/10 |
11-113282669-A-C | DRD2 | c.1138+609T>G | - | IntronicSNV | - | 7/7 |
17-43902799-A-C | CRHR1 | c.328-3782A>C | - | IntronicSNV | - | 4/13 |
17-43902799-A-G | CRHR1 | c.328-3782A>G | - | IntronicSNV | - | 4/13 |
11-47685354-C-T | AGBL2 | c.2449-690G>A | - | IntronicSNV | - | 17/18 |
11-57507983-C-T | TMX2 | c.*266C>T | - | 3-UTRSNV | 8/8 | - |
11-13320526-C-A | ARNTL | c.-262-11008C>A | - | intron_variant | - | 1/19 |
11-13320526-C-T | ARNTL | c.-262-11008C>T | - | intron_variant | - | 1/19 |
17-44078982-T-A | MAPT | c.1773+4952T>A | - | IntronicSNV | - | 10/13 |
13-58297816-C-T | PCDH17 | c.2798-930C>T | - | IntronicSNV | - | 3/3 |
3-136120300-A-C | STAG1 | c.2197-2629T>G | - | IntronicSNV | - | 21/33 |
11-47432303-G-A | SLC39A13 | c.301+357G>A | - | IntronicSNV | - | 2/9 |
7-126217228-G-A | GRM8 | c.1494+32188C>T | - | IntronicSNV | - | 8/10 |
7-126385750-T-C | GRM8 | c.1357+24169A>G | - | IntronicSNV | - | 7/10 |
11-47703943-T-C | AGBL2 | c.1789-296A>G | - | IntronicSNV | - | 11/18 |
17-44060775-C-A | MAPT | c.605C>A | p.Pro202Gln | Missense | 6/14 | - |
17-43901238-A-G | CRHR1 | c.327+2432A>G | - | IntronicSNV | - | 4/13 |
14-75182937-G-A | FCF1 | c.292+135G>A | - | IntronicSNV | - | 4/7 |
7-126276458-T-C | GRM8 | c.1358-26906A>G | - | IntronicSNV | - | 7/10 |
11-95564259-A-G | CEP57 | c.1342A>G | p.Arg448Gly | Missense | 11/11 | - |
7-126456966-A-G | GRM8 | c.1157-46847T>C | - | IntronicSNV | - | 6/10 |
16-82878155-G-C | CDH13 | c.46-13812G>C | - | IntronicSNV | - | 1/13 |
5-64816825-C-T | CENPK | c.651+477G>A | - | IntronicSNV | - | 10/10 |
17-44081527-T-C | MAPT | c.1774-6149T>C | - | IntronicSNV | - | 10/13 |
11-112911004-T-A | NCAM1 | c.52+78618T>A | - | intron_variant | - | 2/19 |
6-100985574-C-T | ASCC3 | c.5775+2465G>A | - | IntronicSNV | - | 37/41 |
1-8487323-C-A | RERE | c.1204-4456G>T | - | IntronicSNV | - | 11/22 |
11-47709212-C-T | AGBL2 | c.1632-1611G>A | - | IntronicSNV | - | 10/18 |
14-75232306-G-A | YLPM1 | c.873+1241G>A | - | IntronicSNV | - | 1/20 |
17-2610217-C-G | CLUH | c.101-2359G>C | - | intron_variant | - | 1/25 |
17-2610217-C-A | CLUH | c.101-2359G>T | - | intron_variant | - | 1/25 |
11-113304457-G-A | DRD2 | c.1-9084C>T | - | IntronicSNV | - | 1/7 |
5-64910405-T-A | TRIM23 | c.245-359A>T | - | IntronicSNV | - | 2/10 |
5-64910405-T-C | TRIM23 | c.245-359A>G | - | IntronicSNV | - | 2/10 |
11-112852611-T-C | NCAM1 | c.52+20225T>C | - | intron_variant | - | 2/19 |
11-112852611-T-G | NCAM1 | c.52+20225T>G | - | intron_variant | - | 2/19 |
11-112853012-A-G | NCAM1 | c.52+20626A>G | - | intron_variant | - | 2/19 |
3-136188837-T-C | STAG1 | c.1205+2418A>G | - | IntronicSNV | - | 12/33 |
20-33333208-C-A | NCOA6 | c.2914+1403G>T | - | IntronicSNV | - | 10/14 |
11-47530024-G-A | CELF1 | c.1-19458C>T | - | IntronicSNV | - | 1/13 |
11-47530024-G-T | CELF1 | c.1-19458C>A | - | IntronicSNV | - | 1/13 |
1-8730779-G-A | RERE | c.1-14423C>T | - | IntronicSNV | - | 1/22 |
9-96407173-G-C | PHF2 | c.300-738G>C | - | IntronicSNV | - | 3/21 |
16-31083075-A-G | ZNF668 | c.-23+1905T>C | - | intron_variant | - | 1/2 |
7-114315605-T-G | FOXP2 | c.2003+11114T>G | - | IntronicSNV | - | 16/16 |
16-31083075-A-C | ZNF668 | c.-23+1905T>G | - | intron_variant | - | 1/2 |
16-31083075-A-T | ZNF668 | c.-23+1905T>A | - | intron_variant | - | 1/2 |
3-107286416-A-T | BBX | c.-84+41171A>T | - | intron_variant | - | 2/16 |
14-75200697-G-A | FCF1 | c.454-82G>A | - | IntronicSNV | - | 6/7 |
18-35145122-C-T | CELF4 | c.286+197G>A | - | IntronicSNV | - | 1/12 |
2-24088174-G-T | ATAD2B | c.1189-380C>A | - | IntronicSNV | - | 10/27 |
9-98230907-T-C | PTCH1 | c.2250+126A>G | - | IntronicSNV | - | 14/23 |
8-141635329-T-C | AGO2 | c.22+10255A>G | - | IntronicSNV | - | 1/18 |
5-107466187-G-A | FBXL17 | c.1745+55631C>T | - | IntronicSNV | - | 6/8 |
1-8714342-G-A | RERE | c.325+1690C>T | - | IntronicSNV | - | 2/22 |
8-10133709-C-G | MSRA | c.332-25335C>G | - | IntronicSNV | - | 3/5 |
11-13314475-T-C | ARNTL | c.-263+15005T>C | - | intron_variant | - | 1/19 |
10-104650128-T-C | AS3MT | c.886-173T>C | - | IntronicSNV | - | 9/10 |
2-148628050-T-A | ACVR2A | c.55+25274T>A | - | IntronicSNV | - | 1/10 |
2-148628050-T-G | ACVR2A | c.55+25274T>G | - | IntronicSNV | - | 1/10 |
1-8716543-G-C | RERE | c.1-187C>G | - | IntronicSNV | - | 1/22 |
17-43979822-A-T | MAPT | c.-18+7770A>T | - | intron_variant | - | 1/13 |
3-49832788-G-A | CDHR4 | c.872C>T | p.Thr291Met | Missense | 8/19 | - |
3-105249211-C-T | ALCAM | c.395-1635C>T | - | IntronicSNV | - | 3/15 |
20-18690491-G-A | DTD1 | c.478-34253G>A | - | IntronicSNV | - | 4/5 |
17-44214815-C-G | KANSL1 | c.1289+33406G>C | - | IntronicSNV | - | 2/14 |
9-127864696-C-T | SCAI | c.99-36359G>A | - | IntronicSNV | - | 2/18 |
7-12273413-C-T | TMEM106B | c.*1812C>T | - | 3-UTRSNV | 9/9 | - |
17-43893487-G-A | CRHR1 | c.122-342G>A | - | IntronicSNV | - | 2/13 |
7-126376694-C-T | GRM8 | c.1357+33225G>A | - | IntronicSNV | - | 7/10 |
7-12273413-C-G | TMEM106B | c.*1812C>G | - | 3-UTRSNV | 9/9 | - |
17-44061696-C-T | MAPT | c.1126+400C>T | - | IntronicSNV | - | 6/13 |
7-126373819-G-C | GRM8 | c.1357+36100C>G | - | IntronicSNV | - | 7/10 |
11-47379615-G-A | SPI1 | c.493+780C>T | - | IntronicSNV | - | 4/4 |
11-47379615-G-C | SPI1 | c.493+780C>G | - | IntronicSNV | - | 4/4 |
18-53050523-G-A | TCF4 | c.369+20162C>T | - | IntronicSNV | - | 6/19 |
16-7667228-A-G | RBFOX1 | c.736+9888A>G | - | IntronicSNV | - | 7/12 |
17-44192946-C-T | KANSL1 | c.1290-20879G>A | - | IntronicSNV | - | 2/14 |
17-44159102-C-T | KANSL1 | c.1533+705G>A | - | IntronicSNV | - | 4/14 |
7-126384442-G-A | GRM8 | c.1357+25477C>T | - | IntronicSNV | - | 7/10 |
17-2610217-C-T | CLUH | c.101-2359G>A | - | intron_variant | - | 1/25 |
5-139586501-G-A | CYSTM1 | c.187+12264G>A | - | IntronicSNV | - | 2/2 |
11-47380340-G-A | SPI1 | c.493+55C>T | - | IntronicSNV | - | 4/4 |
3-85792137-T-C | CADM2 | c.67+16439T>C | - | IntronicSNV | - | 1/9 |
11-47380340-G-T | SPI1 | c.493+55C>A | - | IntronicSNV | - | 4/4 |
7-127458009-C-T | SND1 | c.1242+10382C>T | - | IntronicSNV | - | 11/23 |
7-127458009-C-A | SND1 | c.1242+10382C>A | - | IntronicSNV | - | 11/23 |
7-126280552-C-A | GRM8 | c.1358-31000G>T | - | IntronicSNV | - | 7/10 |
2-212676884-T-C | ERBB4 | c.422-24000A>G | - | IntronicSNV | - | 3/26 |
18-52917331-C-G | TCF4 | c.1350+4397G>C | - | IntronicSNV | - | 15/19 |
18-50983439-C-G | DCC | c.3393-2163C>G | - | IntronicSNV | - | 23/28 |
17-44033132-C-T | MAPT | c.1-6572C>T | - | IntronicSNV | - | 1/13 |
10-104637864-G-C | AS3MT | c.611-272G>C | - | IntronicSNV | - | 7/10 |
1-8679848-G-A | RERE | c.396+4521C>T | - | IntronicSNV | - | 3/22 |
17-44146451-T-C | KANSL1 | c.1534-1418A>G | - | IntronicSNV | - | 4/14 |
1-75809970-A-G | SLC44A5 | c.53-4655T>C | - | IntronicSNV | - | 3/23 |
17-44187257-A-G | KANSL1 | c.1290-15190T>C | - | IntronicSNV | - | 2/14 |
22-41642212-C-T | RANGAP1 | c.*395G>A | - | 3-UTRSNV | 16/16 | - |
11-47700168-G-T | AGBL2 | c.2017-1215C>A | - | IntronicSNV | - | 13/18 |
11-47700168-G-A | AGBL2 | c.2017-1215C>T | - | IntronicSNV | - | 13/18 |
3-52558008-T-A | STAB1 | c.7517T>A | p.Met2506Lys | Missense | 67/69 | - |
5-139636127-T-C | PFDN1 | c.286-10485A>G | - | IntronicSNV | - | 3/3 |
12-117669914-G-A | NOS1 | c.3258C>T | p.Asp1086Asp | Synonymous | 22/29 | - |
14-69661921-G-A | EXD2 | c.-132+3613G>A | - | intron_variant | - | 1/9 |
16-87410376-C-G | FBXO31 | c.340+6635G>C | - | IntronicSNV | - | 1/8 |
7-126188516-T-G | GRM8 | c.1495-14575A>C | - | IntronicSNV | - | 8/10 |
3-52950659-T-A | SFMBT1 | c.1416-429A>T | - | IntronicSNV | - | 13/20 |
9-98215185-T-G | PTCH1 | c.3449+575A>C | - | IntronicSNV | - | 20/23 |
9-98215185-T-C | PTCH1 | c.3449+575A>G | - | IntronicSNV | - | 20/23 |
6-32083175-C-T | ATF6B | c.*341G>A | - | 3-UTRSNV | 18/18 | - |
1-173906935-C-T | RC3H1 | c.*924G>A | - | 3-UTRSNV | 20/20 | - |
17-44011018-A-G | MAPT | c.1-28686A>G | - | IntronicSNV | - | 1/13 |
14-75377555-C-G | RPS6KL1 | c.664+396G>C | - | IntronicSNV | - | 7/11 |
17-2574821-G-T | PAFAH1B1 | c.569-1128G>T | - | IntronicSNV | - | 6/10 |
12-118808144-T-C | TAOK3 | c.-194+2309A>G | - | intron_variant | - | 1/20 |
17-43908773-G-C | CRHR1 | c.857+467G>C | - | IntronicSNV | - | 9/13 |
1-8542700-G-A | RERE | c.1104+12423C>T | - | IntronicSNV | - | 10/22 |
1-8542700-G-T | RERE | c.1104+12423C>A | - | IntronicSNV | - | 10/22 |
1-8542700-G-C | RERE | c.1104+12423C>G | - | IntronicSNV | - | 10/22 |
20-18741821-G-A | DTD1 | c.*20-2183G>A | - | intron_variant | - | 5/5 |
17-44198080-C-T | KANSL1 | c.1290-26013G>A | - | IntronicSNV | - | 2/14 |
17-43990919-A-G | MAPT | c.-18+18867A>G | - | intron_variant | - | 1/13 |
5-64842054-T-G | CENPK | c.242-3379A>C | - | IntronicSNV | - | 5/10 |
17-44861003-C-T | WNT3 | c.81-9728G>A | - | IntronicSNV | - | 1/4 |
17-43902738-C-A | CRHR1 | c.328-3843C>A | - | IntronicSNV | - | 4/13 |
7-127303672-C-T | SND1 | c.78+11167C>T | - | IntronicSNV | - | 1/23 |
16-31083324-G-T | ZNF668 | c.-23+1656C>A | - | intron_variant | - | 1/2 |
16-31083324-G-C | ZNF668 | c.-23+1656C>G | - | intron_variant | - | 1/2 |
16-31083324-G-A | ZNF668 | c.-23+1656C>T | - | intron_variant | - | 1/2 |
11-13365235-T-C | ARNTL | c.1-10621T>C | - | IntronicSNV | - | 3/19 |
7-12251671-T-A | TMEM106B | c.-197+620T>A | - | intron_variant | - | 1/8 |
12-118841906-A-G | SUDS3 | c.803+584A>G | - | IntronicSNV | - | 10/11 |
9-96375217-T-C | PHF2 | c.99-17035T>C | - | IntronicSNV | - | 1/21 |
11-57497011-C-A | TMX2 | c.190-8069C>A | - | IntronicSNV | - | 1/7 |
2-24088174-G-A | ATAD2B | c.1189-380C>T | - | IntronicSNV | - | 10/27 |
9-96360650-T-C | PHF2 | c.98+21497T>C | - | IntronicSNV | - | 1/21 |
1-7790548-C-T | CAMTA1 | c.2915-1960C>T | - | IntronicSNV | - | 11/22 |
9-96369769-T-C | PHF2 | c.99-22483T>C | - | IntronicSNV | - | 1/21 |
17-44071851-G-A | MAPT | c.1508-1914G>A | - | IntronicSNV | - | 9/13 |
9-96243745-A-C | FAM120A | c.804+5125A>C | - | IntronicSNV | - | 3/17 |
17-43558092-C-T | PLEKHM1 | c.48+1711G>A | - | IntronicSNV | - | 2/11 |
11-13301548-A-T | ARNTL | c.-263+2078A>T | - | intron_variant | - | 1/19 |
17-44853872-G-A | WNT3 | c.81-2597C>T | - | IntronicSNV | - | 1/4 |
3-136149139-C-T | STAG1 | c.1650+3259G>A | - | IntronicSNV | - | 16/33 |
2-24449776-C-T | ITSN2 | c.3578-5841G>A | - | IntronicSNV | - | 29/39 |
3-52833805-C-A | ITIH3 | c.943C>A | p.Gln315Lys | Missense | 9/22 | - |
17-43910507-C-T | CRHR1 | c.861C>T | p.Cys287Cys | Synonymous | 10/14 | - |
7-126451889-C-T | GRM8 | c.1157-41770G>A | - | IntronicSNV | - | 6/10 |
11-112834153-T-A | NCAM1 | c.52+1767T>A | - | intron_variant | - | 2/19 |
11-112895028-G-T | NCAM1 | c.52+62642G>T | - | intron_variant | - | 2/19 |
14-69689042-G-T | EXD2 | c.334-6491G>T | - | IntronicSNV | - | 3/9 |
11-113282812-A-T | DRD2 | c.1138+466T>A | - | IntronicSNV | - | 7/7 |
11-27526105-T-C | LIN7C | c.37+2158A>G | - | IntronicSNV | - | 1/4 |
3-136087012-G-C | STAG1 | c.2545+938C>G | - | IntronicSNV | - | 24/33 |
17-2580265-G-A | PAFAH1B1 | c.1002+365G>A | - | IntronicSNV | - | 9/10 |
17-2580265-G-T | PAFAH1B1 | c.1002+365G>T | - | IntronicSNV | - | 9/10 |
17-43496218-G-A | ARHGAP27 | c.-367+6712C>T | - | intron_variant | - | 1/16 |
7-126168849-G-A | GRM8 | c.2430+4157C>T | - | IntronicSNV | - | 9/10 |
1-8698277-C-T | RERE | c.326-13838G>A | - | IntronicSNV | - | 2/22 |
17-44793283-C-T | NSF | c.1761+1931C>T | - | IntronicSNV | - | 15/20 |
17-44149581-C-T | KANSL1 | c.1534-4548G>A | - | IntronicSNV | - | 4/14 |
17-43902505-C-T | CRHR1 | c.327+3699C>T | - | IntronicSNV | - | 4/13 |
9-126452936-C-T | DENND1A | c.303-13868G>A | - | IntronicSNV | - | 5/20 |
17-44226030-G-A | KANSL1 | c.1289+22191C>T | - | IntronicSNV | - | 2/14 |
17-44164090-G-C | KANSL1 | c.1432-4182C>G | - | IntronicSNV | - | 3/14 |
17-44015624-G-A | MAPT | c.1-24080G>A | - | IntronicSNV | - | 1/13 |
17-43994252-T-C | MAPT | c.-18+22200T>C | - | intron_variant | - | 1/13 |
16-7665170-C-G | RBFOX1 | c.736+7830C>G | - | IntronicSNV | - | 7/12 |
11-112857202-A-G | NCAM1 | c.52+24816A>G | - | intron_variant | - | 2/19 |
3-52958439-T-C | SFMBT1 | c.1131+1608A>G | - | IntronicSNV | - | 10/20 |
11-113293501-A-G | DRD2 | c.285+1588T>C | - | IntronicSNV | - | 2/7 |
7-126414078-A-T | GRM8 | c.1157-3959T>A | - | IntronicSNV | - | 6/10 |
17-43998328-C-T | MAPT | c.-18+26276C>T | - | intron_variant | - | 1/13 |
17-44228770-A-G | KANSL1 | c.1289+19451T>C | - | IntronicSNV | - | 2/14 |
11-47682402-C-T | AGBL2 | c.2536-504G>A | - | IntronicSNV | - | 18/18 |
20-18689279-C-T | DTD1 | c.478-35465C>T | - | IntronicSNV | - | 4/5 |
7-2061111-C-A | MAD1L1 | c.1219-6834G>T | - | IntronicSNV | - | 12/18 |
7-2061111-C-T | MAD1L1 | c.1219-6834G>A | - | IntronicSNV | - | 12/18 |
9-96401045-G-A | PHF2 | c.299+2238G>A | - | IntronicSNV | - | 3/21 |
1-8670206-A-C | RERE | c.522+4414T>G | - | IntronicSNV | - | 4/22 |
1-98299475-C-A | DPYD | c.151-5723G>T | - | IntronicSNV | - | 2/22 |
17-44184404-G-A | KANSL1 | c.1290-12337C>T | - | IntronicSNV | - | 2/14 |
7-114314563-C-G | FOXP2 | c.2003+10072C>G | - | IntronicSNV | - | 16/16 |
1-72723863-T-C | NEGR1 | c.176+24139A>G | - | IntronicSNV | - | 1/6 |
9-127856566-A-G | SCAI | c.99-28229T>C | - | IntronicSNV | - | 2/18 |
17-43924130-G-A | SPPL2C | c.1858G>A | p.Gly620Arg | Missense | 1/1 | - |
7-114314563-C-T | FOXP2 | c.2003+10072C>T | - | IntronicSNV | - | 16/16 |
6-31864547-G-T | EHMT2 | c.164C>A | p.Thr55Asn | Missense | 3/28 | - |
9-98243187-A-C | PTCH1 | c.747-317T>G | - | IntronicSNV | - | 5/23 |
11-113292920-G-A | DRD2 | c.285+2169C>T | - | IntronicSNV | - | 2/7 |
3-107389904-C-T | BBX | c.-10+25148C>T | - | intron_variant | - | 3/16 |
4-90748195-T-C | SNCA | c.163+1099A>G | - | IntronicSNV | - | 3/5 |
17-44026478-A-G | MAPT | c.1-13226A>G | - | IntronicSNV | - | 1/13 |
10-104897901-T-C | NT5C2 | c.175+1262A>G | - | IntronicSNV | - | 4/18 |
6-28297313-T-A | ZSCAN31 | c.148A>T | p.Thr50Ser | Missense | 2/4 | - |
3-136245815-G-A | STAG1 | c.472-5556C>T | - | IntronicSNV | - | 6/33 |
11-113286829-C-T | DRD2 | c.533-496G>A | - | IntronicSNV | - | 4/7 |
3-50407344-C-A | CACNA2D2 | c.2045+407G>T | - | IntronicSNV | - | 23/37 |
17-44159695-C-T | KANSL1 | c.1533+112G>A | - | IntronicSNV | - | 4/14 |
6-31677391-G-A | LY6G6F | c.647-412G>A | - | IntronicSNV | - | 3/5 |
11-113292212-G-C | DRD2 | c.285+2877C>G | - | IntronicSNV | - | 2/7 |
11-113292212-G-A | DRD2 | c.285+2877C>T | - | IntronicSNV | - | 2/7 |
5-139669386-G-A | PFDN1 | c.201-8268C>T | - | IntronicSNV | - | 2/3 |
11-16354653-T-G | SOX6 | c.237+7905A>C | - | IntronicSNV | - | 2/15 |
7-2078981-C-T | MAD1L1 | c.1219-24704G>A | - | IntronicSNV | - | 12/18 |
17-44188645-C-T | KANSL1 | c.1290-16578G>A | - | IntronicSNV | - | 2/14 |
5-64851412-T-A | CENPK | c.1-678A>T | - | IntronicSNV | - | 2/10 |
5-64851412-T-C | CENPK | c.1-678A>G | - | IntronicSNV | - | 2/10 |
2-24062818-T-G | ATAD2B | c.1569-5870A>C | - | IntronicSNV | - | 13/27 |
7-2078981-C-G | MAD1L1 | c.1219-24704G>C | - | IntronicSNV | - | 12/18 |
6-32188640-T-C | NOTCH4 | c.815A>G | p.Asp272Gly | Missense | 5/30 | - |
3-52945930-G-A | SFMBT1 | c.1730+624C>T | - | IntronicSNV | - | 16/20 |
5-139678213-A-C | PFDN1 | c.200+1788T>G | - | IntronicSNV | - | 2/3 |
5-139678213-A-G | PFDN1 | c.200+1788T>C | - | IntronicSNV | - | 2/3 |
22-41705909-C-G | ZC3H7B | c.-7+8133C>G | - | intron_variant | - | 1/22 |
11-47379615-G-T | SPI1 | c.493+780C>A | - | IntronicSNV | - | 4/4 |
2-23997627-G-A | ATAD2B | c.3133+8112C>T | - | IntronicSNV | - | 22/27 |
3-50243510-G-T | SLC38A3 | c.-52+729G>T | - | intron_variant | - | 1/15 |
7-97361784-C-G | TAC1 | c.1-141C>G | - | IntronicSNV | - | 1/6 |
11-112906391-T-C | NCAM1 | c.52+74005T>C | - | intron_variant | - | 2/19 |
7-126109819-A-C | GRM8 | c.2431-23393T>G | - | IntronicSNV | - | 9/10 |
9-98248328-A-G | PTCH1 | c.395-172T>C | - | IntronicSNV | - | 2/23 |
17-44203131-C-A | KANSL1 | c.1290-31064G>T | - | IntronicSNV | - | 2/14 |
3-53014657-C-T | SFMBT1 | c.1-11513G>A | - | IntronicSNV | - | 1/20 |
16-87511561-A-G | ZCCHC14 | c.570+13714T>C | - | intron_variant | - | 1/12 |
16-87511561-A-C | ZCCHC14 | c.570+13714T>G | - | intron_variant | - | 1/12 |
7-126384104-A-C | GRM8 | c.1357+25815T>G | - | IntronicSNV | - | 7/10 |
17-44209628-T-C | KANSL1 | c.1290-37561A>G | - | IntronicSNV | - | 2/14 |
9-28576759-T-C | LINGO2 | c.-365+93439A>G | - | intron_variant | - | 2/6 |
3-53014657-C-A | SFMBT1 | c.1-11513G>T | - | IntronicSNV | - | 1/20 |
10-104597152-A-T | CYP17A1 | c.1-34T>A | - | 5-UTRSNV | 1/8 | - |
10-104597152-A-G | CYP17A1 | c.1-34T>C | - | 5-UTRSNV | 1/8 | - |
11-95657111-T-G | MTMR2 | c.8A>C | p.Lys3Thr | Missense | 1/15 | - |
11-113317745-G-C | DRD2 | c.1-22372C>G | - | IntronicSNV | - | 1/7 |
3-52556890-A-G | STAB1 | c.6844A>G | p.Ile2282Val | Missense | 62/69 | - |
14-75301617-C-T | YLPM1 | c.6295-351C>T | - | IntronicSNV | - | 19/20 |
7-126395625-T-A | GRM8 | c.1357+14294A>T | - | IntronicSNV | - | 7/10 |
11-47694699-C-T | AGBL2 | c.2147+4124G>A | - | IntronicSNV | - | 14/18 |
7-97361784-C-T | TAC1 | c.1-141C>T | - | IntronicSNV | - | 1/6 |
7-126396256-C-A | GRM8 | c.1357+13663G>T | - | IntronicSNV | - | 7/10 |
7-126396256-C-G | GRM8 | c.1357+13663G>C | - | IntronicSNV | - | 7/10 |
17-43493560-C-T | ARHGAP27 | c.-367+9370G>A | - | intron_variant | - | 1/16 |
11-112889813-G-A | NCAM1 | c.52+57427G>A | - | intron_variant | - | 2/19 |
18-63536017-C-T | CDH7 | c.1864+5864C>T | - | IntronicSNV | - | 11/11 |
2-144248762-G-A | ARHGAP15 | c.826+3698G>A | - | IntronicSNV | - | 9/13 |
17-43908151-C-T | CRHR1 | c.797-95C>T | - | IntronicSNV | - | 8/13 |
7-127311689-C-T | SND1 | c.79-14978C>T | - | IntronicSNV | - | 1/23 |
6-27879982-A-G | OR2B2 | c.116T>C | p.Ile39Thr | Missense | 1/1 | - |
13-58291621-G-A | PCDH17 | c.2798-7125G>A | - | IntronicSNV | - | 3/3 |
17-44120608-A-G | KANSL1 | c.2021-3358T>C | - | IntronicSNV | - | 7/14 |
9-28585785-G-A | LINGO2 | c.-365+84413C>T | - | intron_variant | - | 2/6 |
14-75352555-T-C | DLST | c.146+218T>C | - | IntronicSNV | - | 3/6 |
17-43480701-G-A | ARHGAP27 | c.615+284C>T | - | IntronicSNV | - | 8/16 |
17-43502111-A-G | ARHGAP27 | c.-367+819T>C | - | intron_variant | - | 1/16 |
17-44037299-G-C | MAPT | c.1-2405G>C | - | IntronicSNV | - | 1/13 |
11-113300052-C-T | DRD2 | c.1-4679G>A | - | IntronicSNV | - | 1/7 |
1-8548558-G-T | RERE | c.1104+6565C>A | - | IntronicSNV | - | 10/22 |
10-104741114-A-C | CNNM2 | c.1621+61256A>C | - | IntronicSNV | - | 1/7 |
22-41566595-C-T | EP300 | c.4452+20C>T | - | IntronicSNV | - | 27/30 |
17-44135827-G-A | KANSL1 | c.1849-7757C>T | - | IntronicSNV | - | 6/14 |
9-127882157-A-G | SCAI | c.98+22755T>C | - | IntronicSNV | - | 2/18 |
2-24095285-A-C | ATAD2B | c.978-2654T>G | - | IntronicSNV | - | 8/27 |
17-44161860-C-T | KANSL1 | c.1432-1952G>A | - | IntronicSNV | - | 3/14 |
11-47725306-C-T | AGBL2 | c.586+789G>A | - | IntronicSNV | - | 7/18 |
11-47812311-C-T | NUP160 | c.3511+1171G>A | - | IntronicSNV | - | 29/35 |
17-44096553-G-A | MAPT | c.2061+457G>A | - | IntronicSNV | - | 13/13 |
2-24458911-G-C | ITSN2 | c.3577+10087C>G | - | IntronicSNV | - | 29/39 |
7-114304969-T-C | FOXP2 | c.2003+478T>C | - | IntronicSNV | - | 16/16 |
12-109999005-G-A | MMAB | c.520-96C>T | - | IntronicSNV | - | 6/8 |
11-13314148-G-T | ARNTL | c.-263+14678G>T | - | intron_variant | - | 1/19 |
17-44858838-C-G | WNT3 | c.81-7563G>C | - | IntronicSNV | - | 1/4 |
17-43556807-T-C | PLEKHM1 | c.49-1294A>G | - | IntronicSNV | - | 2/11 |
16-7658910-C-T | RBFOX1 | c.736+1570C>T | - | IntronicSNV | - | 7/12 |
14-69680441-T-C | EXD2 | c.333+3921T>C | - | IntronicSNV | - | 3/9 |
3-49543288-A-G | DAG1 | c.1-4680A>G | - | IntronicSNV | - | 4/5 |
9-127878481-A-G | SCAI | c.98+26431T>C | - | IntronicSNV | - | 2/18 |
2-24181159-G-T | UBXN2A | c.1-26G>T | - | IntronicSNV | - | 1/6 |
11-112922447-A-G | NCAM1 | c.52+90061A>G | - | intron_variant | - | 2/19 |
3-85792137-T-A | CADM2 | c.67+16439T>A | - | IntronicSNV | - | 1/9 |
17-44062689-A-C | MAPT | c.1126+1393A>C | - | IntronicSNV | - | 6/13 |
17-44859410-A-G | WNT3 | c.81-8135T>C | - | IntronicSNV | - | 1/4 |
11-61569830-C-T | FADS1 | c.*53G>A | - | 3-UTRSNV | 12/12 | - |
22-41619350-T-C | L3MBTL2 | c.943-674T>C | - | IntronicSNV | - | 8/16 |
22-41619350-T-A | L3MBTL2 | c.943-674T>A | - | IntronicSNV | - | 8/16 |
1-8548558-G-A | RERE | c.1104+6565C>T | - | IntronicSNV | - | 10/22 |
1-8548558-G-C | RERE | c.1104+6565C>G | - | IntronicSNV | - | 10/22 |
6-26184102-G-A | HIST1H2BE | c.79G>A | p.Gly27Ser | Missense | 1/1 | - |
12-118796085-C-A | TAOK3 | c.-194+14368G>T | - | intron_variant | - | 1/20 |
10-104849468-G-C | NT5C2 | c.1647C>G | p.Asp549Glu | Missense | 19/19 | - |
10-104849468-G-A | NT5C2 | c.1647C>T | p.Asp549Asp | Synonymous | 19/19 | - |
17-44093319-G-A | MAPT | c.1948+1629G>A | - | IntronicSNV | - | 12/13 |
6-31921475-G-A | NELFE | c.1045+31C>T | - | IntronicSNV | - | 10/10 |
17-44068238-C-T | MAPT | c.1381-588C>T | - | IntronicSNV | - | 8/13 |
18-50743533-G-A | DCC | c.1911+1566G>A | - | IntronicSNV | - | 12/28 |
17-44065263-T-C | MAPT | c.1182+802T>C | - | IntronicSNV | - | 7/13 |
17-43923654-G-C | SPPL2C | c.1382G>C | p.Arg461Pro | Missense | 1/1 | - |
17-43923654-G-A | SPPL2C | c.1382G>A | p.Arg461His | Missense | 1/1 | - |
1-8693537-A-C | RERE | c.326-9098T>G | - | IntronicSNV | - | 2/22 |
11-47662932-T-C | MTCH2 | c.87+999A>G | - | IntronicSNV | - | 1/12 |
3-136398387-A-G | STAG1 | c.1-48647T>C | - | IntronicSNV | - | 1/33 |
6-31839309-C-T | SLC44A4 | c.433G>A | p.Val145Ile | Missense | 7/20 | - |
22-41674203-C-T | RANGAP1 | c.112+2734G>A | - | IntronicSNV | - | 2/15 |
5-139614795-T-C | CYSTM1 | c.188-8095T>C | - | IntronicSNV | - | 2/2 |
11-47074479-T-C | C11orf49 | c.280+410T>C | - | IntronicSNV | - | 3/8 |
6-32006886-G-C | CYP21A2 | c.308G>C | p.Arg103Thr | Missense | 3/10 | - |
17-44153227-A-G | KANSL1 | c.1533+6580T>C | - | IntronicSNV | - | 4/14 |
11-47599639-C-T | KBTBD4 | c.1-88G>A | - | IntronicSNV | 1/4 | - |
17-44853456-G-A | WNT3 | c.81-2181C>T | - | IntronicSNV | - | 1/4 |
17-44853456-G-C | WNT3 | c.81-2181C>G | - | IntronicSNV | - | 1/4 |
17-44228824-A-G | KANSL1 | c.1289+19397T>C | - | IntronicSNV | - | 2/14 |
12-118601110-C-T | TAOK3 | c.1900-1278G>A | - | IntronicSNV | - | 17/20 |
10-104764989-T-C | CNNM2 | c.1622-44475T>C | - | IntronicSNV | - | 1/7 |
7-126415335-G-T | GRM8 | c.1157-5216C>A | - | IntronicSNV | - | 6/10 |
9-127969830-C-T | RABEPK | c.54-13C>T | - | IntronicSNV | - | 2/7 |
17-44076466-A-G | MAPT | c.1773+2436A>G | - | IntronicSNV | - | 10/13 |
3-107253001-G-T | BBX | c.-84+7756G>T | - | intron_variant | - | 2/16 |
10-104637864-G-A | AS3MT | c.611-272G>A | - | IntronicSNV | - | 7/10 |
3-107253001-G-A | BBX | c.-84+7756G>A | - | intron_variant | - | 2/16 |
7-12265988-C-A | TMEM106B | c.441+1977C>A | - | IntronicSNV | - | 5/8 |
17-44044940-T-C | MAPT | c.134-4285T>C | - | IntronicSNV | - | 2/13 |
17-43974889-C-G | MAPT | c.-18+2837C>G | - | intron_variant | - | 1/13 |
17-43912490-C-G | CRHR1 | c.*360C>G | - | 3-UTRSNV | 14/14 | - |
17-43912490-C-T | CRHR1 | c.*360C>T | - | 3-UTRSNV | 14/14 | - |
7-12265988-C-T | TMEM106B | c.441+1977C>T | - | IntronicSNV | - | 5/8 |
17-44800110-G-A | NSF | c.1762-3805G>A | - | IntronicSNV | - | 15/20 |
17-44123248-T-G | KANSL1 | c.2020+4651A>C | - | IntronicSNV | - | 7/14 |
11-113296107-A-G | DRD2 | c.1-734T>C | - | IntronicSNV | - | 1/7 |
7-126404232-C-A | GRM8 | c.1357+5687G>T | - | IntronicSNV | - | 7/10 |
17-44239958-C-T | KANSL1 | c.1289+8263G>A | - | IntronicSNV | - | 2/14 |
11-113285916-C-T | DRD2 | c.723+227G>A | - | IntronicSNV | - | 5/7 |
5-139654537-T-C | PFDN1 | c.285+6497A>G | - | IntronicSNV | - | 3/3 |
1-8498680-A-T | RERE | c.1204-15813T>A | - | IntronicSNV | - | 11/22 |
6-31601012-T-C | PRRC2A | c.4320-144T>C | - | IntronicSNV | - | 16/30 |
17-44186055-G-C | KANSL1 | c.1290-13988C>G | - | IntronicSNV | - | 2/14 |
17-44186055-G-A | KANSL1 | c.1290-13988C>T | - | IntronicSNV | - | 2/14 |
1-8436802-C-T | RERE | c.1285-10768G>A | - | IntronicSNV | - | 12/22 |
1-8436802-C-A | RERE | c.1285-10768G>T | - | IntronicSNV | - | 12/22 |
11-112854309-G-T | NCAM1 | c.52+21923G>T | - | intron_variant | - | 2/19 |
18-53050058-G-T | TCF4 | c.369+20627C>A | - | IntronicSNV | - | 6/19 |
11-113344912-T-C | DRD2 | c.-32+886A>G | - | intron_variant | - | 1/7 |
17-44128125-A-C | KANSL1 | c.1849-55T>G | - | IntronicSNV | - | 6/14 |
3-52558008-T-G | STAB1 | c.7517T>G | p.Met2506Arg | Missense | 67/69 | - |
17-44021463-T-C | MAPT | c.1-18241T>C | - | IntronicSNV | - | 1/13 |
17-43894547-C-T | CRHR1 | c.241+599C>T | - | IntronicSNV | - | 3/13 |
17-44186301-T-C | KANSL1 | c.1290-14234A>G | - | IntronicSNV | - | 2/14 |
5-139636127-T-A | PFDN1 | c.286-10485A>T | - | IntronicSNV | - | 3/3 |
12-118776138-C-T | TAOK3 | c.-194+34315G>A | - | intron_variant | - | 1/20 |
7-126462415-A-G | GRM8 | c.1157-52296T>C | - | IntronicSNV | - | 6/10 |
7-126404132-A-T | GRM8 | c.1357+5787T>A | - | IntronicSNV | - | 7/10 |
11-47822217-C-T | NUP160 | c.2895+1146G>A | - | IntronicSNV | - | 23/35 |
5-64823492-A-G | CENPK | c.597+787T>C | - | IntronicSNV | - | 9/10 |
1-8597108-A-T | RERE | c.830+4165T>A | - | IntronicSNV | - | 7/22 |
17-43520118-A-G | PLEKHM1 | c.2838-2526T>C | - | IntronicSNV | - | 9/11 |
1-8707116-T-G | RERE | c.325+8916A>C | - | IntronicSNV | - | 2/22 |
11-47446292-A-T | PSMC3 | c.286-30T>A | - | IntronicSNV | - | 3/11 |
1-8591162-A-G | RERE | c.830+10111T>C | - | IntronicSNV | - | 7/22 |
17-43974477-A-G | MAPT | c.-18+2425A>G | - | intron_variant | - | 1/13 |
7-126154236-T-C | GRM8 | c.2430+18770A>G | - | IntronicSNV | - | 9/10 |
3-107273294-A-G | BBX | c.-84+28049A>G | - | intron_variant | - | 2/16 |
18-35101644-G-A | CELF4 | c.287-36074C>T | - | IntronicSNV | - | 1/12 |
3-50402309-C-T | CACNA2D2 | c.3291+10G>A | - | IntronicSNV | - | 37/37 |
17-29546765-A-G | NF1 | c.1641+629A>G | - | IntronicSNV | - | 14/56 |
3-49597013-C-T | BSN | c.224+4754C>T | - | IntronicSNV | - | 1/11 |
7-126389408-T-A | GRM8 | c.1357+20511A>T | - | IntronicSNV | - | 7/10 |
7-126389408-T-C | GRM8 | c.1357+20511A>G | - | IntronicSNV | - | 7/10 |
12-16750931-A-G | LMO3 | c.206+2658T>C | - | IntronicSNV | - | 2/3 |
7-126462415-A-T | GRM8 | c.1157-52296T>A | - | IntronicSNV | - | 6/10 |
7-126404132-A-G | GRM8 | c.1357+5787T>C | - | IntronicSNV | - | 7/10 |
1-8597108-A-G | RERE | c.830+4165T>C | - | IntronicSNV | - | 7/22 |
1-8597108-A-C | RERE | c.830+4165T>G | - | IntronicSNV | - | 7/22 |
11-13339272-A-G | ARNTL | c.-190+7666A>G | - | intron_variant | - | 2/19 |
11-31813509-T-A | PAX6 | c.1075-1101A>T | - | IntronicSNV | - | 12/13 |
11-31813509-T-C | PAX6 | c.1075-1101A>G | - | IntronicSNV | - | 12/13 |
17-44074581-A-G | MAPT | c.1773+551A>G | - | IntronicSNV | - | 10/13 |
14-75268544-G-A | YLPM1 | c.4401-715G>A | - | IntronicSNV | - | 5/20 |
6-31919578-A-G | CFB | c.2140-74A>G | - | IntronicSNV | - | 17/17 |
1-8486131-A-C | RERE | c.1204-3264T>G | - | IntronicSNV | - | 11/22 |
7-126484315-G-A | GRM8 | c.1156+58281C>T | - | IntronicSNV | - | 6/10 |
16-87410376-C-T | FBXO31 | c.340+6635G>A | - | IntronicSNV | - | 1/8 |
17-44055638-T-A | MAPT | c.308-103T>A | - | IntronicSNV | - | 4/13 |
3-50402309-C-G | CACNA2D2 | c.3291+10G>C | - | IntronicSNV | - | 37/37 |
12-109888779-G-A | KCTD10 | c.*621C>T | - | 3-UTRSNV | 7/7 | - |
17-64489704-G-A | PRKCA | c.206-2615G>A | - | IntronicSNV | - | 2/16 |
7-126389256-G-A | GRM8 | c.1357+20663C>T | - | IntronicSNV | - | 7/10 |
7-126389256-G-T | GRM8 | c.1357+20663C>A | - | IntronicSNV | - | 7/10 |
11-13333851-G-A | ARNTL | c.-190+2245G>A | - | intron_variant | - | 2/19 |
17-43872228-G-A | CRHR1 | c.33+10285G>A | - | IntronicSNV | - | 1/13 |
22-41703408-A-C | ZC3H7B | c.-7+5632A>C | - | intron_variant | - | 1/22 |
17-43923180-G-T | SPPL2C | c.908G>T | p.Arg303Leu | Missense | 1/1 | - |
22-41703408-A-G | ZC3H7B | c.-7+5632A>G | - | intron_variant | - | 1/22 |
17-43912159-G-C | CRHR1 | c.*29G>C | - | 3-UTRSNV | 14/14 | - |
17-44117119-A-G | KANSL1 | c.2152T>C | p.Ser718Pro | Missense | 8/15 | - |
8-141677470-C-A | PTK2 | c.2931+898G>T | - | IntronicSNV | - | 30/31 |
17-44129949-C-G | KANSL1 | c.1849-1879G>C | - | IntronicSNV | - | 6/14 |
17-44129949-C-T | KANSL1 | c.1849-1879G>A | - | IntronicSNV | - | 6/14 |
3-136151631-G-T | STAG1 | c.1650+767C>A | - | IntronicSNV | - | 16/33 |
17-44812188-C-T | NSF | c.1908+5888C>T | - | IntronicSNV | - | 17/20 |
9-96365743-A-T | PHF2 | c.99-26509A>T | - | IntronicSNV | - | 1/21 |
9-96365743-A-G | PHF2 | c.99-26509A>G | - | IntronicSNV | - | 1/21 |
11-113289037-G-C | DRD2 | c.286-179C>G | - | IntronicSNV | - | 2/7 |
17-43997901-G-C | MAPT | c.-18+25849G>C | - | intron_variant | - | 1/13 |
10-104653473-G-T | AS3MT | c.1020+3038G>T | - | IntronicSNV | - | 10/10 |
1-7774775-T-A | CAMTA1 | c.2915-17733T>A | - | IntronicSNV | - | 11/22 |
1-7774775-T-C | CAMTA1 | c.2915-17733T>C | - | IntronicSNV | - | 11/22 |
9-4145340-G-C | GLIS3 | c.-78+6727C>G | - | intron_variant | - | 1/9 |
11-113286490-C-T | DRD2 | c.533-157G>A | - | IntronicSNV | - | 4/7 |
18-53009757-C-G | TCF4 | c.549+7833G>C | - | IntronicSNV | - | 8/19 |
6-31832038-A-G | SLC44A4 | c.1885+391T>C | - | IntronicSNV | - | 19/19 |
7-127466608-A-T | SND1 | c.1243-17769A>T | - | IntronicSNV | - | 11/23 |
17-44808902-G-A | NSF | c.1908+2602G>A | - | IntronicSNV | - | 17/20 |
4-42123892-C-T | BEND4 | c.1147-1581G>A | - | IntronicSNV | - | 4/5 |
3-136039268-C-A | PCCB | c.1090+3362C>A | - | IntronicSNV | - | 10/14 |
18-53057188-G-A | TCF4 | c.369+13497C>T | - | IntronicSNV | - | 6/19 |
8-14154462-C-G | SGCZ | c.336+27150G>C | - | IntronicSNV | - | 3/7 |
11-47648042-G-A | MTCH2 | c.681+590C>T | - | IntronicSNV | - | 10/12 |
17-44862347-G-T | WNT3 | c.81-11072C>A | - | IntronicSNV | - | 1/4 |
18-50724899-G-A | DCC | c.1574-6687G>A | - | IntronicSNV | - | 9/28 |
3-136337029-G-A | STAG1 | c.132+4959C>T | - | IntronicSNV | - | 3/33 |
1-8638145-A-G | RERE | c.523-20563T>C | - | IntronicSNV | - | 4/22 |
11-47851376-C-T | NUP160 | c.1101+5827G>A | - | IntronicSNV | - | 7/35 |
17-43903842-C-T | CRHR1 | c.328-2739C>T | - | IntronicSNV | - | 4/13 |
14-75253847-A-G | YLPM1 | c.2282+4819A>G | - | IntronicSNV | - | 4/20 |
6-32408497-A-G | HLA-DRA | c.82+688A>G | - | IntronicSNV | - | 1/4 |
1-8656434-C-T | RERE | c.522+18186G>A | - | IntronicSNV | - | 4/22 |
7-126262568-T-C | GRM8 | c.1358-13016A>G | - | IntronicSNV | - | 7/10 |
7-126471780-G-A | GRM8 | c.1157-61661C>T | - | IntronicSNV | - | 6/10 |
11-113297349-C-T | DRD2 | c.1-1976G>A | - | IntronicSNV | - | 1/7 |
17-44092497-T-C | MAPT | c.1948+807T>C | - | IntronicSNV | - | 12/13 |
11-57562525-G-A | CTNND1 | c.268-524G>A | - | IntronicSNV | - | 4/18 |
9-127962972-G-A | RABEPK | c.-220G>A | - | 5_prime_UTR_variant | 1/8 | - |
14-75351647-G-A | DLST | c.98-642G>A | - | IntronicSNV | - | 2/6 |
5-64842054-T-C | CENPK | c.242-3379A>G | - | IntronicSNV | - | 5/10 |
5-64842054-T-A | CENPK | c.242-3379A>T | - | IntronicSNV | - | 5/10 |
5-102433409-G-C | GIN1 | c.716C>G | p.Thr239Arg | Missense | 5/8 | - |
11-113336172-G-A | DRD2 | c.-32+9626C>T | - | intron_variant | - | 1/7 |
11-13322580-A-G | ARNTL | c.-262-8954A>G | - | intron_variant | - | 1/19 |
9-23740210-C-A | ELAVL2 | c.230-9087G>T | - | IntronicSNV | - | 2/6 |
1-8638145-A-T | RERE | c.523-20563T>A | - | IntronicSNV | - | 4/22 |
17-44001957-T-G | MAPT | c.-18+29905T>G | - | intron_variant | - | 1/13 |
18-50869085-T-C | DCC | c.2359+2808T>C | - | IntronicSNV | - | 15/28 |
11-13307594-G-A | ARNTL | c.-263+8124G>A | - | intron_variant | - | 1/19 |
3-53058960-C-T | SFMBT1 | c.-131+20872G>A | - | intron_variant | - | 1/20 |
9-96362967-G-A | PHF2 | c.98+23814G>A | - | IntronicSNV | - | 1/21 |
11-47394305-C-T | SPI1 | c.142+2879G>A | - | IntronicSNV | - | 2/4 |
17-44025592-G-A | MAPT | c.1-14112G>A | - | IntronicSNV | - | 1/13 |
17-44025592-G-T | MAPT | c.1-14112G>T | - | IntronicSNV | - | 1/13 |
3-136371691-G-C | STAG1 | c.1-21951C>G | - | IntronicSNV | - | 1/33 |
14-69703588-G-C | EXD2 | c.1292+329G>C | - | IntronicSNV | - | 8/9 |
17-43976627-G-C | MAPT | c.-18+4575G>C | - | intron_variant | - | 1/13 |
5-102433409-G-A | GIN1 | c.716C>T | p.Thr239Met | Missense | 5/8 | - |
5-102433409-G-T | GIN1 | c.716C>A | p.Thr239Lys | Missense | 5/8 | - |
7-114321943-A-G | FOXP2 | c.2004-7894A>G | - | IntronicSNV | - | 16/16 |
11-47820241-G-T | NUP160 | c.2896-226C>A | - | IntronicSNV | - | 23/35 |
1-174874399-A-G | RABGAP1L | c.298-52195A>G | - | IntronicSNV | - | 2/8 |
12-122186317-G-A | TMEM120B | c.274G>A | p.Asp92Asn | Missense | 3/12 | - |
11-112889846-A-G | NCAM1 | c.52+57460A>G | - | intron_variant | - | 2/19 |
11-47820241-G-A | NUP160 | c.2896-226C>T | - | IntronicSNV | - | 23/35 |
17-44773783-A-G | NSF | c.1374+1755A>G | - | IntronicSNV | - | 12/20 |
20-33642396-C-T | TRPC4AP | c.528+383G>A | - | IntronicSNV | - | 5/18 |
11-13324142-T-G | ARNTL | c.-262-7392T>G | - | intron_variant | - | 1/19 |
9-96407848-A-G | PHF2 | c.300-63A>G | - | IntronicSNV | - | 3/21 |
16-87426307-T-C | MAP1LC3B | c.40+234T>C | - | IntronicSNV | - | 1/3 |
17-44237372-G-A | KANSL1 | c.1289+10849C>T | - | IntronicSNV | - | 2/14 |
18-53084300-C-T | TCF4 | c.305-13551G>A | - | IntronicSNV | - | 5/19 |
17-43990072-A-G | MAPT | c.-18+18020A>G | - | intron_variant | - | 1/13 |
17-44237372-G-C | KANSL1 | c.1289+10849C>G | - | IntronicSNV | - | 2/14 |
17-44025033-T-C | MAPT | c.1-14671T>C | - | IntronicSNV | - | 1/13 |
7-126278971-A-T | GRM8 | c.1358-29419T>A | - | IntronicSNV | - | 7/10 |
3-49924940-T-C | MST1R | c.3856A>G | p.Arg1286Gly | Missense | 19/19 | - |
7-126429517-A-G | GRM8 | c.1157-19398T>C | - | IntronicSNV | - | 6/10 |
11-47459963-T-C | RAPSN | c.1166+320A>G | - | IntronicSNV | - | 7/7 |
2-125052996-T-A | CNTNAP5 | c.381+53026T>A | - | IntronicSNV | - | 3/23 |
1-8473331-G-A | RERE | c.1284+9456C>T | - | IntronicSNV | - | 12/22 |
22-41564287-T-C | EP300 | c.3875-166T>C | - | IntronicSNV | - | 23/30 |
3-136400420-G-T | STAG1 | c.1-50680C>A | - | IntronicSNV | - | 1/33 |
10-104635103-G-A | AS3MT | c.528+685G>A | - | IntronicSNV | - | 6/10 |
17-44848438-G-T | WNT3 | c.323-1024C>A | - | IntronicSNV | - | 2/4 |
11-46898771-T-C | LRP4 | c.3256A>G | p.Ile1086Val | Missense | 23/38 | - |
14-69661671-T-C | EXD2 | c.-132+3363T>C | - | intron_variant | - | 1/9 |
17-44193882-C-T | KANSL1 | c.1290-21815G>A | - | IntronicSNV | - | 2/14 |
11-47696596-A-T | AGBL2 | c.2147+2227T>A | - | IntronicSNV | - | 14/18 |
17-44859031-A-C | WNT3 | c.81-7756T>G | - | IntronicSNV | - | 1/4 |
17-44859031-A-G | WNT3 | c.81-7756T>C | - | IntronicSNV | - | 1/4 |
17-38192137-T-G | MED24 | c.253-89A>C | - | IntronicSNV | - | 4/25 |
11-57481155-G-A | TMX2 | c.189+876G>A | - | IntronicSNV | - | 1/7 |
7-126281558-G-T | GRM8 | c.1358-32006C>A | - | IntronicSNV | - | 7/10 |
17-44115569-C-A | KANSL1 | c.2541+335G>T | - | IntronicSNV | - | 10/14 |
11-112904479-C-T | NCAM1 | c.52+72093C>T | - | intron_variant | - | 2/19 |
17-44060775-C-T | MAPT | c.605C>T | p.Pro202Leu | Missense | 6/14 | - |
3-53016552-C-A | SFMBT1 | c.1-13408G>T | - | IntronicSNV | - | 1/20 |
11-47715524-T-C | AGBL2 | c.695-1716A>G | - | IntronicSNV | - | 8/18 |
11-112893856-A-C | NCAM1 | c.52+61470A>C | - | intron_variant | - | 2/19 |
11-112893856-A-G | NCAM1 | c.52+61470A>G | - | intron_variant | - | 2/19 |
11-112852759-T-C | NCAM1 | c.52+20373T>C | - | intron_variant | - | 2/19 |
11-13359745-T-A | ARNTL | c.-135+11731T>A | - | intron_variant | - | 3/19 |
16-87398155-T-C | FBXO31 | c.341-4183A>G | - | IntronicSNV | - | 1/8 |
1-8603777-C-T | RERE | c.726-2400G>A | - | IntronicSNV | - | 6/22 |
18-53115879-T-A | TCF4 | c.304+12371A>T | - | IntronicSNV | - | 5/19 |
10-104829102-G-T | CNNM2 | c.2167+623G>T | - | IntronicSNV | - | 5/7 |
3-65454517-A-G | MAGI1 | c.959+1441T>C | - | IntronicSNV | - | 5/22 |
2-24221694-C-G | UBXN2A | c.585-848C>G | - | IntronicSNV | - | 6/6 |
7-126287908-T-C | GRM8 | c.1358-38356A>G | - | IntronicSNV | - | 7/10 |
2-24221694-C-T | UBXN2A | c.585-848C>T | - | IntronicSNV | - | 6/6 |
11-113285536-C-A | DRD2 | c.724-353G>T | - | IntronicSNV | - | 5/7 |
14-75386576-G-A | RPS6KL1 | c.362C>T | p.Pro121Leu | Missense | 4/12 | - |
18-52922000-T-C | TCF4 | c.1147-69A>G | - | IntronicSNV | - | 14/19 |
17-44075099-T-C | MAPT | c.1773+1069T>C | - | IntronicSNV | - | 10/13 |
17-44115569-C-T | KANSL1 | c.2541+335G>A | - | IntronicSNV | - | 10/14 |
11-112904479-C-A | NCAM1 | c.52+72093C>A | - | intron_variant | - | 2/19 |
11-112906218-G-A | NCAM1 | c.52+73832G>A | - | intron_variant | - | 2/19 |
11-13315439-A-C | ARNTL | c.-263+15969A>C | - | intron_variant | - | 1/19 |
11-112861434-T-C | NCAM1 | c.52+29048T>C | - | intron_variant | - | 2/19 |
17-44133648-A-C | KANSL1 | c.1849-5578T>G | - | IntronicSNV | - | 6/14 |
5-107494111-C-A | FBXL17 | c.1745+27707G>T | - | IntronicSNV | - | 6/8 |
17-44133648-A-T | KANSL1 | c.1849-5578T>A | - | IntronicSNV | - | 6/14 |
11-13348249-T-C | ARNTL | c.-135+235T>C | - | intron_variant | - | 3/19 |
1-8529524-T-C | RERE | c.1105-3441A>G | - | IntronicSNV | - | 10/22 |
11-13348249-T-G | ARNTL | c.-135+235T>G | - | intron_variant | - | 3/19 |
12-117184335-G-A | RNFT2 | c.84-3311G>A | - | IntronicSNV | - | 3/10 |
3-49139966-G-A | QARS | c.517-61C>T | - | IntronicSNV | - | 5/23 |
6-31742067-A-G | VWA7 | c.721+226T>C | - | IntronicSNV | - | 5/16 |
14-75273113-C-G | YLPM1 | c.4522-2970C>G | - | IntronicSNV | - | 6/20 |
17-43545893-T-C | PLEKHM1 | c.990A>G | p.Thr330Thr | Synonymous | 5/12 | - |
17-44189373-C-T | KANSL1 | c.1290-17306G>A | - | IntronicSNV | - | 2/14 |
17-44070545-G-A | MAPT | c.1507+1593G>A | - | IntronicSNV | - | 9/13 |
1-8569871-A-T | RERE | c.831-1137T>A | - | IntronicSNV | - | 7/22 |
3-136357705-T-C | STAG1 | c.1-7965A>G | - | IntronicSNV | - | 1/33 |
17-44150042-T-C | KANSL1 | c.1534-5009A>G | - | IntronicSNV | - | 4/14 |
7-114302855-A-G | FOXP2 | c.1769+614A>G | - | IntronicSNV | - | 14/16 |
2-58452792-C-G | FANCL | c.273+1071G>C | - | IntronicSNV | - | 4/13 |
1-72720357-C-G | NEGR1 | c.176+27645G>C | - | IntronicSNV | - | 1/6 |
22-41701125-T-A | ZC3H7B | c.-7+3349T>A | - | intron_variant | - | 1/22 |
2-58452792-C-T | FANCL | c.273+1071G>A | - | IntronicSNV | - | 4/13 |
5-139599097-T-C | CYSTM1 | c.188-23793T>C | - | IntronicSNV | - | 2/2 |
3-52721305-G-A | GNL3 | c.116G>A | p.Arg39Gln | Missense | 3/15 | - |
17-43899786-C-T | CRHR1 | c.327+980C>T | - | IntronicSNV | - | 4/13 |
7-127333591-A-G | SND1 | c.229-1291A>G | - | IntronicSNV | - | 2/23 |
7-127333591-A-T | SND1 | c.229-1291A>T | - | IntronicSNV | - | 2/23 |
17-44264045-T-C | KANSL1 | c.-90+6144A>G | - | intron_variant | - | 1/14 |
18-50851107-A-T | DCC | c.2164+2580A>T | - | IntronicSNV | - | 14/28 |
18-50851107-A-G | DCC | c.2164+2580A>G | - | IntronicSNV | - | 14/28 |
7-126438699-T-G | GRM8 | c.1157-28580A>C | - | IntronicSNV | - | 6/10 |
5-64843743-G-A | CENPK | c.241+3648C>T | - | IntronicSNV | - | 5/10 |
5-64843743-G-C | CENPK | c.241+3648C>G | - | IntronicSNV | - | 5/10 |
11-133808038-C-G | IGSF9B | c.410-182G>C | - | IntronicSNV | - | 3/19 |
17-43553150-T-C | PLEKHM1 | c.297-58A>G | - | IntronicSNV | - | 3/11 |
5-64831517-C-T | CENPK | c.289-6491G>A | - | IntronicSNV | - | 6/10 |
17-44019643-G-A | MAPT | c.1-20061G>A | - | IntronicSNV | - | 1/13 |
9-127982381-G-A | RABEPK | c.365-437G>A | - | IntronicSNV | - | 4/7 |
10-104642237-T-G | AS3MT | c.885+3489T>G | - | IntronicSNV | - | 9/10 |
7-126390572-G-T | GRM8 | c.1357+19347C>A | - | IntronicSNV | - | 7/10 |
17-44010364-C-G | MAPT | c.1-29340C>G | - | IntronicSNV | - | 1/13 |
9-127851931-A-C | SCAI | c.99-23594T>G | - | IntronicSNV | - | 2/18 |
11-13345115-C-A | ARNTL | c.-189-2845C>A | - | intron_variant | - | 2/19 |
3-35726748-A-G | ARPP21 | c.*1227A>G | - | 3-UTRSNV | 5/5 | - |
1-8452725-T-A | RERE | c.1285-26691A>T | - | IntronicSNV | - | 12/22 |
7-126201021-G-A | GRM8 | c.1495-27080C>T | - | IntronicSNV | - | 8/10 |
11-47399602-G-A | SPI1 | c.45+258C>T | - | IntronicSNV | - | 1/4 |
7-126397408-T-C | GRM8 | c.1357+12511A>G | - | IntronicSNV | - | 7/10 |
9-96268478-C-T | FAM120A | c.1030+7310C>T | - | IntronicSNV | - | 5/17 |
10-104824324-T-A | CNNM2 | c.2074-4062T>A | - | IntronicSNV | - | 4/7 |
11-57381989-G-A | SERPING1 | c.1438G>A | p.Val480Met | Missense | 8/8 | - |
9-127825168-G-A | SCAI | c.167+3101C>T | - | IntronicSNV | - | 3/18 |
10-104616663-T-C | BORCS7 | c.141+2479T>C | - | IntronicSNV | - | 1/5 |
1-2444414-G-A | PANK4 | c.1640C>T | p.Ala547Val | Missense | 13/19 | - |
9-96243745-A-G | FAM120A | c.804+5125A>G | - | IntronicSNV | - | 3/17 |
1-8690933-G-A | RERE | c.326-6494C>T | - | IntronicSNV | - | 2/22 |
17-44073739-G-A | MAPT | c.1508-26G>A | - | IntronicSNV | - | 9/13 |
9-96260574-C-T | FAM120A | c.934-498C>T | - | IntronicSNV | - | 4/17 |
17-44208218-A-G | KANSL1 | c.1290-36151T>C | - | IntronicSNV | - | 2/14 |
17-44071674-A-G | MAPT | c.1508-2091A>G | - | IntronicSNV | - | 9/13 |
5-64838758-G-C | CENPK | c.242-83C>G | - | IntronicSNV | - | 5/10 |
5-87545318-C-T | TMEM161B | c.4-8585G>A | - | IntronicSNV | - | 1/11 |
11-88719347-T-C | GRM5 | c.661+61033A>G | - | IntronicSNV | - | 2/8 |
17-44118848-G-A | KANSL1 | c.2021-1598C>T | - | IntronicSNV | - | 7/14 |
5-64838584-G-A | CENPK | c.288+45C>T | - | IntronicSNV | - | 6/10 |
10-104929716-T-C | NT5C2 | c.101+4899A>G | - | IntronicSNV | - | 3/18 |
3-50222693-T-C | SEMA3F | c.1457-183T>C | - | IntronicSNV | - | 13/18 |
17-44109769-C-G | KANSL1 | c.2838-104G>C | - | IntronicSNV | - | 13/14 |
11-46984803-A-G | C11orf49 | c.47-23956A>G | - | IntronicSNV | - | 1/8 |
17-44182706-A-G | KANSL1 | c.1290-10639T>C | - | IntronicSNV | - | 2/14 |
9-96368536-C-G | PHF2 | c.99-23716C>G | - | IntronicSNV | - | 1/21 |
7-126506674-C-T | GRM8 | c.1156+35922G>A | - | IntronicSNV | - | 6/10 |
17-44192957-T-C | KANSL1 | c.1290-20890A>G | - | IntronicSNV | - | 2/14 |
17-44183790-G-A | KANSL1 | c.1290-11723C>T | - | IntronicSNV | - | 2/14 |
7-126096288-C-T | GRM8 | c.2431-9862G>A | - | IntronicSNV | - | 9/10 |
6-27775674-A-G | HIST1H2BL | c.11T>C | p.Leu4Pro | Missense | 1/1 | - |
6-32153406-C-A | PBX2 | c.*753G>T | - | 3-UTRSNV | 9/9 | - |
11-13328979-G-C | ARNTL | c.-262-2555G>C | - | intron_variant | - | 1/19 |
1-8658527-T-G | RERE | c.522+16093A>C | - | IntronicSNV | - | 4/22 |
1-8663821-G-A | RERE | c.522+10799C>T | - | IntronicSNV | - | 4/22 |
3-107295392-A-C | BBX | c.-84+50147A>C | - | intron_variant | - | 2/16 |
11-47129397-C-G | C11orf49 | c.281-29799C>G | - | IntronicSNV | - | 3/8 |
2-24147047-G-A | ATAD2B | c.216+2378C>T | - | IntronicSNV | - | 1/27 |
7-126386654-C-G | GRM8 | c.1357+23265G>C | - | IntronicSNV | - | 7/10 |
7-126410171-G-A | GRM8 | c.1157-52C>T | - | IntronicSNV | - | 6/10 |
7-126410171-G-C | GRM8 | c.1157-52C>G | - | IntronicSNV | - | 6/10 |
8-141635340-A-G | AGO2 | c.22+10244T>C | - | IntronicSNV | - | 1/18 |
17-44194735-G-T | KANSL1 | c.1290-22668C>A | - | IntronicSNV | - | 2/14 |
17-44201109-C-G | KANSL1 | c.1290-29042G>C | - | IntronicSNV | - | 2/14 |
17-44201109-C-A | KANSL1 | c.1290-29042G>T | - | IntronicSNV | - | 2/14 |
11-16344765-G-A | SOX6 | c.238-4566C>T | - | IntronicSNV | - | 2/15 |
17-44180997-C-T | KANSL1 | c.1290-8930G>A | - | IntronicSNV | - | 2/14 |
22-41508414-G-T | EP300 | c.95-4777G>T | - | IntronicSNV | - | 1/30 |
17-43922942-T-C | SPPL2C | c.670T>C | p.Ser224Pro | Missense | 1/1 | - |
2-24147047-G-T | ATAD2B | c.216+2378C>A | - | IntronicSNV | - | 1/27 |
17-44077850-G-A | MAPT | c.1773+3820G>A | - | IntronicSNV | - | 10/13 |
17-44077850-G-T | MAPT | c.1773+3820G>T | - | IntronicSNV | - | 10/13 |
17-44090455-T-C | MAPT | c.1867-1154T>C | - | IntronicSNV | - | 11/13 |
9-98231008-A-G | PTCH1 | c.2250+25T>C | - | IntronicSNV | - | 14/23 |
16-7668003-A-T | RBFOX1 | c.736+10663A>T | - | IntronicSNV | - | 7/12 |
3-53020544-A-G | SFMBT1 | c.1-17400T>C | - | IntronicSNV | - | 1/20 |
3-52962748-C-G | SFMBT1 | c.898-391G>C | - | IntronicSNV | - | 8/20 |
11-47836302-T-A | NUP160 | c.1686+729A>T | - | IntronicSNV | - | 13/35 |
11-47129397-C-T | C11orf49 | c.281-29799C>T | - | IntronicSNV | - | 3/8 |
3-52985319-G-A | SFMBT1 | c.123+3014C>T | - | IntronicSNV | - | 3/20 |
12-110002777-C-T | MMAB | c.348+147G>A | - | IntronicSNV | - | 4/8 |
7-114315605-T-A | FOXP2 | c.2003+11114T>A | - | IntronicSNV | - | 16/16 |
2-24147631-G-A | ATAD2B | c.216+1794C>T | - | IntronicSNV | - | 1/27 |
3-136139730-C-G | STAG1 | c.2108+205G>C | - | IntronicSNV | - | 20/33 |
16-31082025-T-C | ZNF668 | c.-23+2955A>G | - | intron_variant | - | 1/2 |
11-47437202-C-T | SLC39A13 | c.*288C>T | - | 3-UTRSNV | 10/10 | - |
6-32412566-T-A | HLA-DRA | c.*149T>A | - | 3_prime_UTR_variant | 5/5 | - |
22-41710034-T-C | ZC3H7B | c.1-6631T>C | - | IntronicSNV | - | 1/22 |
11-112852195-G-T | NCAM1 | c.52+19809G>T | - | intron_variant | - | 2/19 |
11-47716324-G-C | AGBL2 | c.695-2516C>G | - | IntronicSNV | - | 8/18 |
11-112852195-G-A | NCAM1 | c.52+19809G>A | - | intron_variant | - | 2/19 |
17-43887480-T-C | CRHR1 | c.121+3017T>C | - | IntronicSNV | - | 2/13 |
7-114211447-A-G | FOXP2 | c.258+36686A>G | - | IntronicSNV | - | 3/16 |
17-44263729-C-G | KANSL1 | c.-90+6460G>C | - | intron_variant | - | 1/14 |
20-18685835-T-C | DTD1 | c.478-38909T>C | - | IntronicSNV | - | 4/5 |
22-41627924-C-G | CHADL | c.2263-2190G>C | - | IntronicSNV | - | 5/5 |
1-72739905-A-T | NEGR1 | c.176+8097T>A | - | IntronicSNV | - | 1/6 |
5-139557385-C-T | CYSTM1 | c.-21+2515C>T | - | intron_variant | - | 1/2 |
11-112875768-G-C | NCAM1 | c.52+43382G>C | - | intron_variant | - | 2/19 |
7-126240851-C-T | GRM8 | c.1494+8565G>A | - | IntronicSNV | - | 8/10 |
11-47504075-G-C | CELF1 | c.687+172C>G | - | IntronicSNV | - | 7/13 |
18-50895766-G-T | DCC | c.2360-16647G>T | - | IntronicSNV | - | 15/28 |
2-24432937-C-T | ITSN2 | c.4258-35G>A | - | IntronicSNV | - | 34/39 |
11-13307366-A-G | ARNTL | c.-263+7896A>G | - | intron_variant | - | 1/19 |
2-24432937-C-A | ITSN2 | c.4258-35G>T | - | IntronicSNV | - | 34/39 |
6-32032743-G-A | TNXB | c.6696C>T | p.Asp2232Asp | Synonymous | 19/44 | - |
9-96365753-G-A | PHF2 | c.99-26499G>A | - | IntronicSNV | - | 1/21 |
17-44043819-G-A | MAPT | c.133+3983G>A | - | IntronicSNV | - | 2/13 |
5-139654732-A-T | PFDN1 | c.285+6302T>A | - | IntronicSNV | - | 3/3 |
5-139654732-A-G | PFDN1 | c.285+6302T>C | - | IntronicSNV | - | 3/3 |
17-44126765-C-T | KANSL1 | c.2020+1134G>A | - | IntronicSNV | - | 7/14 |
17-44189910-A-G | KANSL1 | c.1290-17843T>C | - | IntronicSNV | - | 2/14 |
7-126396604-C-G | GRM8 | c.1357+13315G>C | - | IntronicSNV | - | 7/10 |
22-41667493-G-C | RANGAP1 | c.240+3111C>G | - | IntronicSNV | - | 3/15 |
17-44824213-T-G | NSF | c.1909-2926T>G | - | IntronicSNV | - | 17/20 |
14-75301617-C-G | YLPM1 | c.6295-351C>G | - | IntronicSNV | - | 19/20 |
17-44858838-C-A | WNT3 | c.81-7563G>T | - | IntronicSNV | - | 1/4 |
3-50400081-G-A | CACNA2D2 | c.*2016C>T | - | IntergenicSNV | 38/38 | - |
2-148687061-A-T | ACVR2A | c.*2218A>T | - | 3-UTRSNV | 11/11 | - |
17-44238938-T-C | KANSL1 | c.1289+9283A>G | - | IntronicSNV | - | 2/14 |
2-44973791-A-G | CAMKMT | c.698+2956A>G | - | IntronicSNV | - | 8/10 |
7-126282321-C-T | GRM8 | c.1358-32769G>A | - | IntronicSNV | - | 7/10 |
7-126167037-G-A | GRM8 | c.2430+5969C>T | - | IntronicSNV | - | 9/10 |
18-53252388-G-A | TCF4 | c.145+123C>T | - | IntronicSNV | - | 3/19 |
19-32974913-A-G | DPY19L3 | c.*1767A>G | - | 3-UTRSNV | 19/19 | - |
17-44160050-G-A | KANSL1 | c.1432-142C>T | - | IntronicSNV | - | 3/14 |
17-44166311-C-T | KANSL1 | c.1431+5615G>A | - | IntronicSNV | - | 3/14 |
12-118765070-C-T | TAOK3 | c.-194+45383G>A | - | intron_variant | - | 1/20 |
17-43513441-C-T | PLEKHM1 | c.*1783G>A | - | 3-UTRSNV | 12/12 | - |
3-52838402-T-C | ITIH3 | c.1865-340T>C | - | IntronicSNV | - | 14/21 |
17-43911036-G-A | CRHR1 | c.1017-44G>A | - | IntronicSNV | - | 11/13 |
17-44238571-C-G | KANSL1 | c.1289+9650G>C | - | IntronicSNV | - | 2/14 |
16-31095171-C-T | ZNF646 | c.*758C>T | - | IntergenicSNV | 3/3 | - |
17-44144345-A-G | KANSL1 | c.1653-247T>C | - | IntronicSNV | - | 5/14 |
17-44178884-G-A | KANSL1 | c.1290-6817C>T | - | IntronicSNV | - | 2/14 |
17-44178884-G-C | KANSL1 | c.1290-6817C>G | - | IntronicSNV | - | 2/14 |
9-127894469-T-C | SCAI | c.98+10443A>G | - | IntronicSNV | - | 2/18 |
5-139654537-T-A | PFDN1 | c.285+6497A>T | - | IntronicSNV | - | 3/3 |
16-7667797-G-A | RBFOX1 | c.736+10457G>A | - | IntronicSNV | - | 7/12 |
7-126403584-C-T | GRM8 | c.1357+6335G>A | - | IntronicSNV | - | 7/10 |
17-44021699-G-T | MAPT | c.1-18005G>T | - | IntronicSNV | - | 1/13 |
7-126403584-C-G | GRM8 | c.1357+6335G>C | - | IntronicSNV | - | 7/10 |
7-126403584-C-A | GRM8 | c.1357+6335G>T | - | IntronicSNV | - | 7/10 |
5-107562658-A-C | FBXL17 | c.1507-2729T>G | - | IntronicSNV | - | 4/8 |
11-112834153-T-C | NCAM1 | c.52+1767T>C | - | intron_variant | - | 2/19 |
11-61557803-T-C | TMEM258 | c.113+162A>G | - | IntronicSNV | - | 2/3 |
3-136213310-T-C | STAG1 | c.902+5755A>G | - | IntronicSNV | - | 9/33 |
11-112852032-G-T | NCAM1 | c.52+19646G>T | - | intron_variant | - | 2/19 |
11-112852032-G-A | NCAM1 | c.52+19646G>A | - | intron_variant | - | 2/19 |
2-212717215-G-T | ERBB4 | c.422-64331C>A | - | IntronicSNV | - | 3/26 |
2-148853276-T-C | MBD5 | c.-925+74023T>C | - | intron_variant | - | 2/14 |
7-114060663-A-T | FOXP2 | c.-11+5248A>T | - | intron_variant | - | 1/16 |
2-148853276-T-A | MBD5 | c.-925+74023T>A | - | intron_variant | - | 2/14 |
17-43484598-G-A | ARHGAP27 | c.1-1515C>T | - | IntronicSNV | - | 1/16 |
17-44249800-G-A | KANSL1 | c.1-291C>T | - | IntronicSNV | - | 1/14 |
17-43484598-G-T | ARHGAP27 | c.1-1515C>A | - | IntronicSNV | - | 1/16 |
11-113297185-T-C | DRD2 | c.1-1812A>G | - | IntronicSNV | - | 1/7 |
11-113300601-C-T | DRD2 | c.1-5228G>A | - | IntronicSNV | - | 1/7 |
7-114302569-C-T | FOXP2 | c.1769+328C>T | - | IntronicSNV | - | 14/16 |
11-16346667-G-A | SOX6 | c.238-6468C>T | - | IntronicSNV | - | 2/15 |
11-16346667-G-T | SOX6 | c.238-6468C>A | - | IntronicSNV | - | 2/15 |
5-64824530-C-T | CENPK | c.471-125G>A | - | IntronicSNV | - | 8/10 |
14-75272008-A-G | YLPM1 | c.4521+2629A>G | - | IntronicSNV | - | 6/20 |
1-174850894-C-T | RABGAP1L | c.297+69796C>T | - | IntronicSNV | - | 2/8 |
17-44150464-T-C | KANSL1 | c.1534-5431A>G | - | IntronicSNV | - | 4/14 |
3-135814009-G-A | PPP2R3A | c.2927+4500G>A | - | IntronicSNV | - | 10/13 |
3-135814009-G-C | PPP2R3A | c.2927+4500G>C | - | IntronicSNV | - | 10/13 |
11-47376448-G-A | SPI1 | c.*330C>T | - | 3-UTRSNV | 5/5 | - |
17-44124837-A-G | KANSL1 | c.2020+3062T>C | - | IntronicSNV | - | 7/14 |
9-96422119-C-T | PHF2 | c.1329+237C>T | - | IntronicSNV | - | 11/21 |
11-47805478-T-C | NUP160 | c.3991-728A>G | - | IntronicSNV | - | 33/35 |
7-126472723-C-A | GRM8 | c.1157-62604G>T | - | IntronicSNV | - | 6/10 |
16-7669000-G-C | RBFOX1 | c.737-11605G>C | - | IntronicSNV | - | 7/12 |
10-104621068-A-G | BORCS7 | c.248+770A>G | - | IntronicSNV | - | 3/5 |
11-57497847-C-A | TMX2 | c.190-7233C>A | - | IntronicSNV | - | 1/7 |
17-44066088-T-A | MAPT | c.1183-1156T>A | - | IntronicSNV | - | 7/13 |
1-197372437-G-T | CRB1 | c.1172-17693G>T | - | IntronicSNV | - | 5/11 |
16-31091209-T-A | ZNF646 | c.3564T>A | p.Thr1188Thr | Synonymous | 2/3 | - |
17-44030311-T-G | MAPT | c.1-9393T>G | - | IntronicSNV | - | 1/13 |
16-7664102-G-A | RBFOX1 | c.736+6762G>A | - | IntronicSNV | - | 7/12 |
9-96413681-G-A | PHF2 | c.603-1780G>A | - | IntronicSNV | - | 5/21 |
9-96413681-G-C | PHF2 | c.603-1780G>C | - | IntronicSNV | - | 5/21 |
11-112906804-A-G | NCAM1 | c.52+74418A>G | - | intron_variant | - | 2/19 |
22-41548008-A-G | EP300 | c.2989A>G | p.Ile997Val | Missense | 15/31 | - |
2-24410256-A-C | FAM228A | c.402-3025A>C | - | IntronicSNV | - | 5/5 |
1-174775131-A-G | RABGAP1L | c.168+5493A>G | - | IntronicSNV | - | 1/8 |
22-41703428-G-A | ZC3H7B | c.-7+5652G>A | - | intron_variant | - | 1/22 |
17-43910088-G-A | CRHR1 | c.858-416G>A | - | IntronicSNV | - | 9/13 |
17-44799216-C-T | NSF | c.1762-4699C>T | - | IntronicSNV | - | 15/20 |
3-50369546-C-A | RASSF1 | c.1-57G>T | - | 5-UTRSNV | 2/5 | - |
9-127829102-C-T | SCAI | c.99-765G>A | - | IntronicSNV | - | 2/18 |
12-16748721-A-G | LMO3 | c.206+4868T>C | - | IntronicSNV | - | 2/3 |
18-53131488-C-A | TCF4 | c.146-120G>T | - | IntronicSNV | - | 3/19 |
6-105423931-G-T | LIN28B | c.198+17770G>T | - | IntronicSNV | - | 2/3 |
22-41703428-G-T | ZC3H7B | c.-7+5652G>T | - | intron_variant | - | 1/22 |
20-18588764-T-C | DTD1 | c.370+11879T>C | - | IntronicSNV | - | 3/5 |
16-7669000-G-A | RBFOX1 | c.737-11605G>A | - | IntronicSNV | - | 7/12 |
17-44149741-G-A | KANSL1 | c.1534-4708C>T | - | IntronicSNV | - | 4/14 |
17-43924200-C-G | SPPL2C | c.1928C>G | p.Pro643Arg | Missense | 1/1 | - |
11-57497847-C-T | TMX2 | c.190-7233C>T | - | IntronicSNV | - | 1/7 |
16-7667788-G-A | RBFOX1 | c.736+10448G>A | - | IntronicSNV | - | 7/12 |
22-41627924-C-T | CHADL | c.2263-2190G>A | - | IntronicSNV | - | 5/5 |
22-41704872-C-T | ZC3H7B | c.-7+7096C>T | - | intron_variant | - | 1/22 |
6-32006655-C-T | CYP21A2 | c.292+67C>T | - | IntronicSNV | - | 2/9 |
6-29342775-G-A | OR12D3 | c.290C>T | p.Thr97Ile | Missense | 1/1 | - |
7-38910683-A-G | VPS41 | c.61-1830T>C | - | IntronicSNV | - | 2/28 |
1-8575064-C-A | RERE | c.831-6330G>T | - | IntronicSNV | - | 7/22 |
7-12266706-G-A | TMEM106B | c.442-2599G>A | - | IntronicSNV | - | 5/8 |
11-47857520-C-T | NUP160 | c.943-159G>A | - | IntronicSNV | - | 6/35 |
17-43906726-A-C | CRHR1 | c.434+39A>C | - | IntronicSNV | - | 5/13 |
16-31091209-T-C | ZNF646 | c.3564T>C | p.Thr1188Thr | Synonymous | 2/3 | - |
17-44191835-A-G | KANSL1 | c.1290-19768T>C | - | IntronicSNV | - | 2/14 |
17-29623288-C-T | NF1 | c.4773-29550C>T | - | IntronicSNV | - | 35/56 |
5-139629450-T-C | PFDN1 | c.286-3808A>G | - | IntronicSNV | - | 3/3 |
11-16373083-T-C | SOX6 | c.1-10289A>G | - | IntronicSNV | - | 1/15 |
17-44221602-G-C | KANSL1 | c.1289+26619C>G | - | IntronicSNV | - | 2/14 |
5-64829824-C-A | CENPK | c.289-4798G>T | - | IntronicSNV | - | 6/10 |
5-64829824-C-G | CENPK | c.289-4798G>C | - | IntronicSNV | - | 6/10 |
5-107626503-C-A | FBXL17 | c.1506+57597G>T | - | IntronicSNV | - | 4/8 |
2-58383820-C-T | VRK2 | c.1183-2664C>T | - | IntronicSNV | - | 12/12 |
17-44023520-T-G | MAPT | c.1-16184T>G | - | IntronicSNV | - | 1/13 |
1-8644007-C-T | RERE | c.523-26425G>A | - | IntronicSNV | - | 4/22 |
7-126280904-A-C | GRM8 | c.1358-31352T>G | - | IntronicSNV | - | 7/10 |
17-44813169-G-C | NSF | c.1908+6869G>C | - | IntronicSNV | - | 17/20 |
17-44813169-G-A | NSF | c.1908+6869G>A | - | IntronicSNV | - | 17/20 |
17-44813169-G-T | NSF | c.1908+6869G>T | - | IntronicSNV | - | 17/20 |
6-31762843-G-C | VARS | c.152C>G | p.Pro51Arg | Missense | 2/30 | - |
16-87404052-C-T | FBXO31 | c.341-10080G>A | - | IntronicSNV | - | 1/8 |
17-43978988-A-G | MAPT | c.-18+6936A>G | - | intron_variant | - | 1/13 |
17-44039043-G-A | MAPT | c.1-661G>A | - | IntronicSNV | - | 1/13 |
16-87404052-C-G | FBXO31 | c.341-10080G>C | - | IntronicSNV | - | 1/8 |
11-112912811-T-A | NCAM1 | c.52+80425T>A | - | intron_variant | - | 2/19 |
17-44082981-G-A | MAPT | c.1774-4695G>A | - | IntronicSNV | - | 10/13 |
7-126413981-G-T | GRM8 | c.1157-3862C>A | - | IntronicSNV | - | 6/10 |
7-126413981-G-A | GRM8 | c.1157-3862C>T | - | IntronicSNV | - | 6/10 |
17-44115107-C-T | KANSL1 | c.2541+797G>A | - | IntronicSNV | - | 10/14 |
3-52541253-A-G | STAB1 | c.1990-376A>G | - | IntronicSNV | - | 18/68 |
4-3414654-G-A | RGS12 | c.2021-1145G>A | - | IntronicSNV | - | 4/16 |
7-114303189-G-T | FOXP2 | c.1770-316G>T | - | IntronicSNV | - | 14/16 |
3-52541253-A-T | STAB1 | c.1990-376A>T | - | IntronicSNV | - | 18/68 |
16-82878155-G-A | CDH13 | c.46-13812G>A | - | IntronicSNV | - | 1/13 |
2-24114729-G-C | ATAD2B | c.369-3460C>G | - | IntronicSNV | - | 2/27 |
11-112852464-T-C | NCAM1 | c.52+20078T>C | - | intron_variant | - | 2/19 |
22-41618880-G-T | L3MBTL2 | c.943-1144G>T | - | IntronicSNV | - | 8/16 |
22-41618880-G-A | L3MBTL2 | c.943-1144G>A | - | IntronicSNV | - | 8/16 |
5-64843025-G-A | CENPK | c.242-4350C>T | - | IntronicSNV | - | 5/10 |
7-126124794-T-A | GRM8 | c.2431-38368A>T | - | IntronicSNV | - | 9/10 |
17-43496465-T-C | ARHGAP27 | c.-367+6465A>G | - | intron_variant | - | 1/16 |
1-174772948-C-T | RABGAP1L | c.168+3310C>T | - | IntronicSNV | - | 1/8 |
17-44820122-G-A | NSF | c.1909-7017G>A | - | IntronicSNV | - | 17/20 |
9-96425363-G-A | PHF2 | c.1818+55G>A | - | IntronicSNV | - | 13/21 |
5-64843435-G-A | CENPK | c.241+3956C>T | - | IntronicSNV | - | 5/10 |
7-127311689-C-A | SND1 | c.79-14978C>A | - | IntronicSNV | - | 1/23 |
11-47655752-C-T | MTCH2 | c.369+472G>A | - | IntronicSNV | - | 5/12 |
17-44090685-G-T | MAPT | c.1867-924G>T | - | IntronicSNV | - | 11/13 |
12-16743434-T-G | LMO3 | c.206+10155A>C | - | IntronicSNV | - | 2/3 |
9-96409370-T-C | PHF2 | c.460+1299T>C | - | IntronicSNV | - | 4/21 |
1-8534529-T-C | RERE | c.1105-8446A>G | - | IntronicSNV | - | 10/22 |
11-47716381-T-G | AGBL2 | c.695-2573A>C | - | IntronicSNV | - | 8/18 |
7-126395673-A-T | GRM8 | c.1357+14246T>A | - | IntronicSNV | - | 7/10 |
11-47386073-T-C | SPI1 | c.143-4482A>G | - | IntronicSNV | - | 2/4 |
11-47383275-T-C | SPI1 | c.143-1684A>G | - | IntronicSNV | - | 2/4 |
17-44033394-G-C | MAPT | c.1-6310G>C | - | IntronicSNV | - | 1/13 |
7-126396292-C-T | GRM8 | c.1357+13627G>A | - | IntronicSNV | - | 7/10 |
3-52960859-C-T | SFMBT1 | c.1049-730G>A | - | IntronicSNV | - | 9/20 |
17-44248769-T-C | KANSL1 | c.741A>G | p.Arg247Arg | Synonymous | 2/15 | - |
5-107445849-T-C | FBXL17 | c.1745+75969A>G | - | IntronicSNV | - | 6/8 |
3-52837793-T-C | ITIH3 | c.1710-78T>C | - | IntronicSNV | - | 13/21 |
11-112838867-A-T | NCAM1 | c.52+6481A>T | - | intron_variant | - | 2/19 |
17-44250108-T-G | KANSL1 | c.1-599A>C | - | IntronicSNV | - | 1/14 |
17-44250108-T-C | KANSL1 | c.1-599A>G | - | IntronicSNV | - | 1/14 |
11-13323498-A-C | ARNTL | c.-262-8036A>C | - | intron_variant | - | 1/19 |
17-44044431-C-T | MAPT | c.133+4595C>T | - | IntronicSNV | - | 2/13 |
17-44017180-T-G | MAPT | c.1-22524T>G | - | IntronicSNV | - | 1/13 |
17-44126977-G-A | KANSL1 | c.2020+922C>T | - | IntronicSNV | - | 7/14 |
17-44126977-G-C | KANSL1 | c.2020+922C>G | - | IntronicSNV | - | 7/14 |
11-88921557-C-T | TYR | c.820-2813C>T | - | IntronicSNV | - | 1/4 |
7-126399407-C-A | GRM8 | c.1357+10512G>T | - | IntronicSNV | - | 7/10 |
11-47602729-C-T | NDUFS3 | c.381+193C>T | - | IntronicSNV | - | 4/6 |
9-96427505-C-G | PHF2 | c.1938-463C>G | - | IntronicSNV | - | 14/21 |
14-75274288-T-C | YLPM1 | c.4522-1795T>C | - | IntronicSNV | - | 6/20 |
1-8574118-C-T | RERE | c.831-5384G>A | - | IntronicSNV | - | 7/22 |
3-136037707-G-A | PCCB | c.1090+1801G>A | - | IntronicSNV | - | 10/14 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
1-8743710-A-G | RERE | c.1-27354T>C | - | IntronicSNV | - | 1/22 |
18-20891631-G-A | TMEM241 | c.766-1923C>T | - | IntronicSNV | - | 13/14 |
11-47663049-A-G | MTCH2 | c.87+882T>C | - | IntronicSNV | - | 1/12 |
11-13340710-T-A | ARNTL | c.-189-7250T>A | - | intron_variant | - | 2/19 |
11-113286501-A-G | DRD2 | c.533-168T>C | - | IntronicSNV | - | 4/7 |
3-136231067-T-A | STAG1 | c.676+8988A>T | - | IntronicSNV | - | 7/33 |
18-35094265-C-G | CELF4 | c.287-28695G>C | - | IntronicSNV | - | 1/12 |
18-35094265-C-T | CELF4 | c.287-28695G>A | - | IntronicSNV | - | 1/12 |
9-98239503-G-A | PTCH1 | c.1503+326C>T | - | IntronicSNV | - | 10/23 |
22-41656332-G-A | RANGAP1 | c.615+1118C>T | - | IntronicSNV | - | 6/15 |
17-44122484-C-T | KANSL1 | c.2021-5234G>A | - | IntronicSNV | - | 7/14 |
11-47385923-G-A | SPI1 | c.143-4332C>T | - | IntronicSNV | - | 2/4 |
1-8468278-A-G | RERE | c.1284+14509T>C | - | IntronicSNV | - | 12/22 |
11-112911839-T-G | NCAM1 | c.52+79453T>G | - | intron_variant | - | 2/19 |
17-44123248-T-C | KANSL1 | c.2020+4651A>G | - | IntronicSNV | - | 7/14 |
3-136068699-T-C | STAG1 | c.3066-494A>G | - | IntronicSNV | - | 28/33 |
18-53133740-T-C | TCF4 | c.146-2372A>G | - | IntronicSNV | - | 3/19 |
11-13301921-G-C | ARNTL | c.-263+2451G>C | - | intron_variant | - | 1/19 |
12-118655792-G-A | TAOK3 | c.644-3877C>T | - | IntronicSNV | - | 9/20 |
1-8466730-T-C | RERE | c.1284+16057A>G | - | IntronicSNV | - | 12/22 |
2-148955901-C-T | MBD5 | c.-831+19539C>T | - | intron_variant | - | 3/14 |
2-148955901-C-A | MBD5 | c.-831+19539C>A | - | intron_variant | - | 3/14 |
5-139558584-C-G | CYSTM1 | c.-21+3714C>G | - | intron_variant | - | 1/2 |
18-50692458-A-G | DCC | c.1418+8576A>G | - | IntronicSNV | - | 8/28 |
3-136309710-T-C | STAG1 | c.297+13441A>G | - | IntronicSNV | - | 4/33 |
7-126296227-T-C | GRM8 | c.1358-46675A>G | - | IntronicSNV | - | 7/10 |
9-126315123-T-G | DENND1A | c.993+4726A>C | - | IntronicSNV | - | 13/20 |
3-107307503-C-T | BBX | c.-83-57180C>T | - | intron_variant | - | 2/16 |
12-118739186-A-C | TAOK3 | c.1-45814T>G | - | IntronicSNV | - | 1/20 |
9-96381916-T-G | PHF2 | c.99-10336T>G | - | IntronicSNV | - | 1/21 |
14-75254310-A-G | YLPM1 | c.2282+5282A>G | - | IntronicSNV | - | 4/20 |
14-75254310-A-T | YLPM1 | c.2282+5282A>T | - | IntronicSNV | - | 4/20 |
1-8743710-A-T | RERE | c.1-27354T>A | - | IntronicSNV | - | 1/22 |
17-43549608-G-A | PLEKHM1 | c.923+2858C>T | - | IntronicSNV | - | 4/11 |
11-57448032-C-G | ZDHHC5 | c.105-1862C>G | - | IntronicSNV | - | 2/11 |
18-51027404-T-C | DCC | c.4111+1524T>C | - | IntronicSNV | - | 27/28 |
12-118727661-G-A | TAOK3 | c.-193-23097C>T | - | intron_variant | - | 1/20 |
11-112852946-A-G | NCAM1 | c.52+20560A>G | - | intron_variant | - | 2/19 |
11-112905039-C-T | NCAM1 | c.52+72653C>T | - | intron_variant | - | 2/19 |
7-114320222-A-T | FOXP2 | c.2004-9615A>T | - | IntronicSNV | - | 16/16 |
1-197355817-C-T | CRB1 | c.1171+29674C>T | - | IntronicSNV | - | 5/11 |
12-118809939-T-C | TAOK3 | c.-194+514A>G | - | intron_variant | - | 1/20 |
18-53099093-C-G | TCF4 | c.305-28344G>C | - | IntronicSNV | - | 5/19 |
18-53099093-C-T | TCF4 | c.305-28344G>A | - | IntronicSNV | - | 5/19 |
9-96401464-G-A | PHF2 | c.299+2657G>A | - | IntronicSNV | - | 3/21 |
17-44263965-T-C | KANSL1 | c.-90+6224A>G | - | intron_variant | - | 1/14 |
2-148664590-C-T | ACVR2A | c.528+7123C>T | - | IntronicSNV | - | 4/10 |
14-75290018-C-G | YLPM1 | c.6112-941C>G | - | IntronicSNV | - | 17/20 |
1-8574972-G-T | RERE | c.831-6238C>A | - | IntronicSNV | - | 7/22 |
17-44123717-C-T | KANSL1 | c.2020+4182G>A | - | IntronicSNV | - | 7/14 |
2-148664590-C-A | ACVR2A | c.528+7123C>A | - | IntronicSNV | - | 4/10 |
2-148664590-C-G | ACVR2A | c.528+7123C>G | - | IntronicSNV | - | 4/10 |
17-43909412-C-T | CRHR1 | c.858-1092C>T | - | IntronicSNV | - | 9/13 |
17-43909412-C-A | CRHR1 | c.858-1092C>A | - | IntronicSNV | - | 9/13 |
17-44241664-T-C | KANSL1 | c.1289+6557A>G | - | IntronicSNV | - | 2/14 |
17-44181681-A-G | KANSL1 | c.1290-9614T>C | - | IntronicSNV | - | 2/14 |
18-63530016-A-G | CDH7 | c.1727A>G | p.Asn576Ser | Missense | 11/12 | - |
20-33171368-G-C | PIGU | c.926+1873C>G | - | IntronicSNV | - | 9/11 |
18-63530016-A-T | CDH7 | c.1727A>T | p.Asn576Ile | Missense | 11/12 | - |
11-112909745-C-T | NCAM1 | c.52+77359C>T | - | intron_variant | - | 2/19 |
6-396321-C-T | IRF4 | c.492+386C>T | - | IntronicSNV | - | 4/8 |
17-44112385-A-G | KANSL1 | c.2542-734T>C | - | IntronicSNV | - | 10/14 |
13-58288880-T-C | PCDH17 | c.2798-9866T>C | - | IntronicSNV | - | 3/3 |
17-44191682-G-C | KANSL1 | c.1290-19615C>G | - | IntronicSNV | - | 2/14 |
17-44860021-C-G | WNT3 | c.81-8746G>C | - | IntronicSNV | - | 1/4 |
17-44860021-C-T | WNT3 | c.81-8746G>A | - | IntronicSNV | - | 1/4 |
2-24143622-T-A | ATAD2B | c.216+5803A>T | - | IntronicSNV | - | 1/27 |
9-127975654-C-T | RABEPK | c.217C>T | p.His73Tyr | Missense | 4/8 | - |
17-44801784-G-A | NSF | c.1762-2131G>A | - | IntronicSNV | - | 15/20 |
9-96362115-G-A | PHF2 | c.98+22962G>A | - | IntronicSNV | - | 1/21 |
3-107377792-G-T | BBX | c.1-51516G>T | - | IntronicSNV | - | 2/16 |
17-43911716-G-T | CRHR1 | c.1195-274G>T | - | IntronicSNV | - | 13/13 |
3-136444589-C-G | STAG1 | c.-84+26448G>C | - | intron_variant | - | 1/33 |
16-30995669-T-C | SETD1A | c.*325T>C | - | 3-UTRSNV | 19/19 | - |
7-126378868-A-G | GRM8 | c.1357+31051T>C | - | IntronicSNV | - | 7/10 |
18-35131444-A-G | CELF4 | c.286+13875T>C | - | IntronicSNV | - | 1/12 |
17-43979971-C-T | MAPT | c.-18+7919C>T | - | intron_variant | - | 1/13 |
11-113337058-C-A | DRD2 | c.-32+8740G>T | - | intron_variant | - | 1/7 |
12-16743217-A-G | LMO3 | c.206+10372T>C | - | IntronicSNV | - | 2/3 |
3-52982159-G-C | SFMBT1 | c.124-4550C>G | - | IntronicSNV | - | 3/20 |
3-52982159-G-A | SFMBT1 | c.124-4550C>T | - | IntronicSNV | - | 3/20 |
11-57498232-C-G | TMX2 | c.190-6848C>G | - | IntronicSNV | - | 1/7 |
17-44247164-A-G | KANSL1 | c.1289+1057T>C | - | IntronicSNV | - | 2/14 |
1-8552804-A-T | RERE | c.1104+2319T>A | - | IntronicSNV | - | 10/22 |
1-8552804-A-G | RERE | c.1104+2319T>C | - | IntronicSNV | - | 10/22 |
18-53252388-G-T | TCF4 | c.145+123C>A | - | IntronicSNV | - | 3/19 |
17-44795234-A-G | NSF | c.1761+3882A>G | - | IntronicSNV | - | 15/20 |
20-18718861-T-G | DTD1 | c.478-5883T>G | - | IntronicSNV | - | 4/5 |
4-90748195-T-A | SNCA | c.163+1099A>T | - | IntronicSNV | - | 3/5 |
1-8501786-A-T | RERE | c.1204-18919T>A | - | IntronicSNV | - | 11/22 |
1-8495590-A-G | RERE | c.1204-12723T>C | - | IntronicSNV | - | 11/22 |
20-18662088-T-A | DTD1 | c.477+53211T>A | - | IntronicSNV | - | 4/5 |
11-112912811-T-C | NCAM1 | c.52+80425T>C | - | intron_variant | - | 2/19 |
11-47658314-C-A | MTCH2 | c.280-1191G>T | - | IntronicSNV | - | 3/12 |
3-135872958-G-C | MSL2 | c.143-1378C>G | - | IntronicSNV | - | 1/1 |
7-126389256-G-C | GRM8 | c.1357+20663C>G | - | IntronicSNV | - | 7/10 |
12-118676100-A-G | TAOK3 | c.341-126T>C | - | IntronicSNV | - | 6/20 |
17-43896616-T-C | CRHR1 | c.242-2105T>C | - | IntronicSNV | - | 3/13 |
5-139654951-G-C | PFDN1 | c.285+6083C>G | - | IntronicSNV | - | 3/3 |
5-139654951-G-A | PFDN1 | c.285+6083C>T | - | IntronicSNV | - | 3/3 |
20-18730863-C-T | DTD1 | c.*5967C>T | - | IntronicSNV | - | 5/5 |
7-127297002-G-C | SND1 | c.78+4497G>C | - | IntronicSNV | - | 1/23 |
11-47046554-G-A | C11orf49 | c.150-27385G>A | - | IntronicSNV | - | 2/8 |
17-44016462-A-G | MAPT | c.1-23242A>G | - | IntronicSNV | - | 1/13 |
3-52994981-G-A | SFMBT1 | c.29-6554C>T | - | IntronicSNV | - | 2/20 |
7-39201041-A-G | POU6F2 | c.191-42793A>G | - | IntronicSNV | - | 3/10 |
11-61571478-T-C | FADS1 | c.1054-239A>G | - | IntronicSNV | - | 7/11 |
18-53070914-G-A | TCF4 | c.305-165C>T | - | IntronicSNV | - | 5/19 |
10-104897901-T-G | NT5C2 | c.175+1262A>C | - | IntronicSNV | - | 4/18 |
16-7666664-G-C | RBFOX1 | c.736+9324G>C | - | IntronicSNV | - | 7/12 |
7-114297180-G-A | FOXP2 | c.1267-941G>A | - | IntronicSNV | - | 10/16 |
11-47835721-A-C | NUP160 | c.1687-754T>G | - | IntronicSNV | - | 13/35 |
14-30122668-A-T | PRKD1 | c.696+10237T>A | - | IntronicSNV | - | 4/17 |
17-44102865-A-C | MAPT | c.*1328A>C | - | 3-UTRSNV | 14/14 | - |
6-26409890-G-C | BTN3A1 | c.689G>C | p.Arg230Thr | Missense | 5/10 | - |
7-126458354-G-A | GRM8 | c.1157-48235C>T | - | IntronicSNV | - | 6/10 |
1-174825815-A-C | RABGAP1L | c.297+44717A>C | - | IntronicSNV | - | 2/8 |
3-52566682-G-A | NT5DC2 | c.121+1867C>T | - | IntronicSNV | - | 1/13 |
17-44020314-C-T | MAPT | c.1-19390C>T | - | IntronicSNV | - | 1/13 |
5-64837878-G-A | CENPK | c.288+751C>T | - | IntronicSNV | - | 6/10 |
7-1872921-C-T | MAD1L1 | c.1999-17057G>A | - | IntronicSNV | - | 18/18 |
11-47658314-C-G | MTCH2 | c.280-1191G>C | - | IntronicSNV | - | 3/12 |
7-126393730-T-C | GRM8 | c.1357+16189A>G | - | IntronicSNV | - | 7/10 |
17-43908152-C-T | CRHR1 | c.797-94C>T | - | IntronicSNV | - | 8/13 |
2-148939333-T-C | MBD5 | c.-831+2971T>C | - | intron_variant | - | 3/14 |
1-174778061-C-T | RABGAP1L | c.169-2909C>T | - | IntronicSNV | - | 1/8 |
18-35126708-C-T | CELF4 | c.286+18611G>A | - | IntronicSNV | - | 1/12 |
18-35126708-C-G | CELF4 | c.286+18611G>C | - | IntronicSNV | - | 1/12 |
11-47363285-G-A | MYBPC3 | c.1790+257C>T | - | IntronicSNV | - | 18/34 |
22-41782119-C-A | TEF | c.158-1236C>A | - | IntronicSNV | - | 1/3 |
22-41782119-C-T | TEF | c.158-1236C>T | - | IntronicSNV | - | 1/3 |
1-174783859-G-A | RABGAP1L | c.297+2761G>A | - | IntronicSNV | - | 2/8 |
1-8489302-C-T | RERE | c.1204-6435G>A | - | IntronicSNV | - | 11/22 |
12-118749550-T-C | TAOK3 | c.-193-44986A>G | - | intron_variant | - | 1/20 |
5-64842536-C-A | CENPK | c.242-3861G>T | - | IntronicSNV | - | 5/10 |
11-95564259-A-T | CEP57 | c.1342A>T | p.Arg448* | Nonsense | 11/11 | - |
11-95564259-A-C | CEP57 | c.1342A>C | p.Arg448Arg | Synonymous | 11/11 | - |
7-2033780-G-C | MAD1L1 | c.1416+7920C>G | - | IntronicSNV | - | 14/18 |
7-126282638-G-A | GRM8 | c.1358-33086C>T | - | IntronicSNV | - | 7/10 |
17-79045773-A-G | BAIAP2 | c.218-12859A>G | - | IntronicSNV | - | 3/13 |
14-75279395-T-G | YLPM1 | c.5412T>G | p.Pro1804Pro | Synonymous | 11/21 | - |
14-75279395-T-A | YLPM1 | c.5412T>A | p.Pro1804Pro | Synonymous | 11/21 | - |
11-47466006-G-A | RAPSN | c.532-1640C>T | - | IntronicSNV | - | 2/7 |
11-112885527-T-C | NCAM1 | c.52+53141T>C | - | intron_variant | - | 2/19 |
10-104945751-C-T | NT5C2 | c.-122-4666G>A | - | intron_variant | - | 1/18 |
20-18639612-C-A | DTD1 | c.477+30735C>A | - | IntronicSNV | - | 4/5 |
17-44083948-T-G | MAPT | c.1774-3728T>G | - | IntronicSNV | - | 10/13 |
6-32064726-T-G | TNXB | c.904A>C | p.Thr302Pro | Missense | 3/44 | - |
1-8616838-T-A | RERE | c.629-208A>T | - | IntronicSNV | - | 5/22 |
7-126398678-C-G | GRM8 | c.1357+11241G>C | - | IntronicSNV | - | 7/10 |
17-44126691-G-A | KANSL1 | c.2020+1208C>T | - | IntronicSNV | - | 7/14 |
5-64850134-G-A | CENPK | c.111+490C>T | - | IntronicSNV | - | 3/10 |
7-126433537-C-T | GRM8 | c.1157-23418G>A | - | IntronicSNV | - | 6/10 |
20-18529233-T-A | SEC23B | c.1744-20T>A | - | IntronicSNV | - | 15/19 |
12-118723378-G-A | TAOK3 | c.-193-18814C>T | - | intron_variant | - | 1/20 |
7-127398962-G-T | SND1 | c.1152+37508G>T | - | IntronicSNV | - | 10/23 |
2-148607438-G-A | ACVR2A | c.55+4662G>A | - | IntronicSNV | - | 1/10 |
22-41753603-G-C | ZC3H7B | c.*170G>C | - | 3-UTRSNV | 23/23 | - |
17-44225485-T-C | KANSL1 | c.1289+22736A>G | - | IntronicSNV | - | 2/14 |
17-44862613-A-G | WNT3 | c.81-11338T>C | - | IntronicSNV | - | 1/4 |
2-24034560-T-C | ATAD2B | c.2268-1188A>G | - | IntronicSNV | - | 17/27 |
14-69665832-A-G | EXD2 | c.-131-4802A>G | - | intron_variant | - | 1/9 |
2-24109316-A-G | ATAD2B | c.573-617T>C | - | IntronicSNV | - | 4/27 |
3-136119354-C-A | STAG1 | c.2197-1683G>T | - | IntronicSNV | - | 21/33 |
16-7669000-G-T | RBFOX1 | c.737-11605G>T | - | IntronicSNV | - | 7/12 |
3-136119354-C-T | STAG1 | c.2197-1683G>A | - | IntronicSNV | - | 21/33 |
18-53098732-G-A | TCF4 | c.305-27983C>T | - | IntronicSNV | - | 5/19 |
11-61549025-G-A | MYRF | c.2660-20G>A | - | IntronicSNV | - | 20/25 |
2-23995918-T-C | ATAD2B | c.3134-7420A>G | - | IntronicSNV | - | 22/27 |
17-44260416-T-C | KANSL1 | c.-90+9773A>G | - | intron_variant | - | 1/14 |
7-126387887-C-T | GRM8 | c.1357+22032G>A | - | IntronicSNV | - | 7/10 |
11-47687147-A-G | AGBL2 | c.2448+1361T>C | - | IntronicSNV | - | 17/18 |
2-148832035-C-T | MBD5 | c.-925+52782C>T | - | intron_variant | - | 2/14 |
11-112860288-A-G | NCAM1 | c.52+27902A>G | - | intron_variant | - | 2/19 |
11-47188411-C-T | ARFGAP2 | c.1232G>A | p.Ser411Asn | Missense | 13/16 | - |
17-44068112-C-G | MAPT | c.1380+671C>G | - | IntronicSNV | - | 8/13 |
11-112843616-A-G | NCAM1 | c.52+11230A>G | - | intron_variant | - | 2/19 |
16-87414635-G-T | FBXO31 | c.340+2376C>A | - | IntronicSNV | - | 1/8 |
3-136425514-A-C | STAG1 | c.-84+45523T>G | - | intron_variant | - | 1/33 |
3-85893048-G-T | CADM2 | c.218-39393G>T | - | IntronicSNV | - | 2/9 |
17-44820425-T-C | NSF | c.1909-6714T>C | - | IntronicSNV | - | 17/20 |
17-44820425-T-A | NSF | c.1909-6714T>A | - | IntronicSNV | - | 17/20 |
8-10129757-A-G | MSRA | c.331+27024A>G | - | IntronicSNV | - | 3/5 |
3-50406058-C-T | CACNA2D2 | c.2046-392G>A | - | IntronicSNV | - | 23/37 |
17-44134391-G-T | KANSL1 | c.1849-6321C>A | - | IntronicSNV | - | 6/14 |
10-104614350-C-T | BORCS7 | c.141+166C>T | - | IntronicSNV | - | 1/5 |
17-44147574-G-A | KANSL1 | c.1534-2541C>T | - | IntronicSNV | - | 4/14 |
7-126415079-G-T | GRM8 | c.1157-4960C>A | - | IntronicSNV | - | 6/10 |
9-96361119-C-A | PHF2 | c.98+21966C>A | - | IntronicSNV | - | 1/21 |
7-126387828-A-G | GRM8 | c.1357+22091T>C | - | IntronicSNV | - | 7/10 |
14-69661062-T-C | EXD2 | c.-132+2754T>C | - | intron_variant | - | 1/9 |
17-44858855-A-T | WNT3 | c.81-7580T>A | - | IntronicSNV | - | 1/4 |
17-44858855-A-G | WNT3 | c.81-7580T>C | - | IntronicSNV | - | 1/4 |
11-57450720-A-T | ZDHHC5 | c.226+705A>T | - | IntronicSNV | - | 3/11 |
1-197389475-T-C | CRB1 | c.1172-655T>C | - | IntronicSNV | - | 5/11 |
5-107513703-T-C | FBXL17 | c.1745+8115A>G | - | IntronicSNV | - | 6/8 |
14-75388183-C-G | RPS6KL1 | c.62G>C | p.Arg21Pro | Missense | 3/12 | - |
5-107489929-C-T | FBXL17 | c.1745+31889G>A | - | IntronicSNV | - | 6/8 |
14-75278302-G-A | YLPM1 | c.5229-21G>A | - | IntronicSNV | - | 9/20 |
17-43912635-A-G | CRHR1 | c.*505A>G | - | 3-UTRSNV | 14/14 | - |
11-47447346-C-G | PSMC3 | c.159+72G>C | - | IntronicSNV | - | 2/11 |
11-47447346-C-T | PSMC3 | c.159+72G>A | - | IntronicSNV | - | 2/11 |
15-86940760-T-C | AGBL1 | c.2400T>C | p.Asp800Asp | Synonymous | 18/25 | - |
3-136038574-G-A | PCCB | c.1090+2668G>A | - | IntronicSNV | - | 10/14 |
3-136038574-G-C | PCCB | c.1090+2668G>C | - | IntronicSNV | - | 10/14 |
11-47847428-G-C | NUP160 | c.1102-3712C>G | - | IntronicSNV | - | 7/35 |
11-47847428-G-A | NUP160 | c.1102-3712C>T | - | IntronicSNV | - | 7/35 |
11-47437403-C-T | SLC39A13 | c.*489C>T | - | 3-UTRSNV | 10/10 | - |
7-126415079-G-A | GRM8 | c.1157-4960C>T | - | IntronicSNV | - | 6/10 |
14-75185748-T-G | FCF1 | c.292+2946T>G | - | IntronicSNV | - | 4/7 |
7-126405067-C-A | GRM8 | c.1357+4852G>T | - | IntronicSNV | - | 7/10 |
7-114303833-G-A | FOXP2 | c.1839+259G>A | - | IntronicSNV | - | 15/16 |
9-127877508-G-A | SCAI | c.98+27404C>T | - | IntronicSNV | - | 2/18 |
7-69945340-A-G | AUTS2 | c.690+44573A>G | - | IntronicSNV | - | 5/17 |
4-90756550-C-G | SNCA | c.121+148G>C | - | IntronicSNV | - | 2/5 |
9-96361119-C-T | PHF2 | c.98+21966C>T | - | IntronicSNV | - | 1/21 |
7-126385945-T-C | GRM8 | c.1357+23974A>G | - | IntronicSNV | - | 7/10 |
9-96362205-G-A | PHF2 | c.98+23052G>A | - | IntronicSNV | - | 1/21 |
22-41644074-C-A | RANGAP1 | c.1694+1260G>T | - | IntronicSNV | - | 15/15 |
22-41644074-C-T | RANGAP1 | c.1694+1260G>A | - | IntronicSNV | - | 15/15 |
16-87445839-C-T | ZCCHC14 | c.2488G>A | - | missense_variant | 12/13 | - |
7-127410711-G-A | SND1 | c.1153-36827G>A | - | IntronicSNV | - | 10/23 |
10-104898126-C-T | NT5C2 | c.175+1037G>A | - | IntronicSNV | - | 4/18 |
17-44032879-A-G | MAPT | c.1-6825A>G | - | IntronicSNV | - | 1/13 |
7-114326813-A-G | FOXP2 | c.2004-3024A>G | - | IntronicSNV | - | 16/16 |
11-57450720-A-C | ZDHHC5 | c.226+705A>C | - | IntronicSNV | - | 3/11 |
11-13331226-G-A | ARNTL | c.-262-308G>A | - | intron_variant | - | 1/19 |
9-127832040-T-C | SCAI | c.99-3703A>G | - | IntronicSNV | - | 2/18 |
9-98266855-T-A | PTCH1 | c.394+1834A>T | - | IntronicSNV | - | 2/23 |
17-43895751-G-A | CRHR1 | c.241+1803G>A | - | IntronicSNV | - | 3/13 |
17-43991272-A-G | MAPT | c.-18+19220A>G | - | intron_variant | - | 1/13 |
17-44133633-A-G | KANSL1 | c.1849-5563T>C | - | IntronicSNV | - | 6/14 |
14-75388183-C-T | RPS6KL1 | c.62G>A | p.Arg21Gln | Missense | 3/12 | - |
5-107489929-C-G | FBXL17 | c.1745+31889G>C | - | IntronicSNV | - | 6/8 |
5-107489929-C-A | FBXL17 | c.1745+31889G>T | - | IntronicSNV | - | 6/8 |
5-64840280-T-C | CENPK | c.242-1605A>G | - | IntronicSNV | - | 5/10 |
9-96397689-G-A | PHF2 | c.185-1004G>A | - | IntronicSNV | - | 2/21 |
12-110017125-T-C | MVK | c.227-482T>C | - | IntronicSNV | - | 3/10 |
7-126221810-T-C | GRM8 | c.1494+27606A>G | - | IntronicSNV | - | 8/10 |
18-50796002-G-A | DCC | c.1912-35946G>A | - | IntronicSNV | - | 12/28 |
2-24043573-T-A | ATAD2B | c.2132-821A>T | - | IntronicSNV | - | 16/27 |
2-24043573-T-C | ATAD2B | c.2132-821A>G | - | IntronicSNV | - | 16/27 |
6-27879200-C-A | OR2B2 | c.898G>T | p.Ala300Ser | Missense | 1/1 | - |
1-72732323-C-T | NEGR1 | c.176+15679G>A | - | IntronicSNV | - | 1/6 |
2-148815661-T-G | MBD5 | c.-925+36408T>G | - | intron_variant | - | 2/14 |
17-44038785-A-G | MAPT | c.1-919A>G | - | IntronicSNV | - | 1/13 |
1-7031225-T-A | CAMTA1 | c.235-120139T>A | - | IntronicSNV | - | 3/22 |
17-44155707-C-T | KANSL1 | c.1533+4100G>A | - | IntronicSNV | - | 4/14 |
5-102529719-T-C | PPIP5K2 | c.3431-882T>C | - | IntronicSNV | - | 28/29 |
9-4145560-T-A | GLIS3 | c.-78+6507A>T | - | intron_variant | - | 1/9 |
11-112853538-G-A | NCAM1 | c.52+21152G>A | - | intron_variant | - | 2/19 |
16-31095251-G-C | ZNF646 | c.*838G>C | - | IntergenicSNV | 3/3 | - |
7-126159210-G-A | GRM8 | c.2430+13796C>T | - | IntronicSNV | - | 9/10 |
9-127969106-C-A | RABEPK | c.54-737C>A | - | IntronicSNV | - | 2/7 |
7-38911498-A-G | VPS41 | c.61-2645T>C | - | IntronicSNV | - | 2/28 |
9-127854818-T-C | SCAI | c.99-26481A>G | - | IntronicSNV | - | 2/18 |
17-43896690-T-C | CRHR1 | c.242-2031T>C | - | IntronicSNV | - | 3/13 |
17-44182336-C-A | KANSL1 | c.1290-10269G>T | - | IntronicSNV | - | 2/14 |
17-43541627-C-A | PLEKHM1 | c.1308+3948G>T | - | IntronicSNV | - | 5/11 |
2-148900148-T-C | MBD5 | c.-924-36121T>C | - | intron_variant | - | 2/14 |
6-100984106-T-G | ASCC3 | c.5775+3933A>C | - | IntronicSNV | - | 37/41 |
3-136371504-C-T | STAG1 | c.1-21764G>A | - | IntronicSNV | - | 1/33 |
11-13309671-G-A | ARNTL | c.-263+10201G>A | - | intron_variant | - | 1/19 |
11-13324530-G-A | ARNTL | c.-262-7004G>A | - | intron_variant | - | 1/19 |
1-8576925-C-G | RERE | c.831-8191G>C | - | IntronicSNV | - | 7/22 |
11-112877408-T-C | NCAM1 | c.52+45022T>C | - | intron_variant | - | 2/19 |
20-18613362-G-A | DTD1 | c.477+4485G>A | - | IntronicSNV | - | 4/5 |
1-8576925-C-T | RERE | c.831-8191G>A | - | IntronicSNV | - | 7/22 |
17-44181508-T-G | KANSL1 | c.1290-9441A>C | - | IntronicSNV | - | 2/14 |
13-58275043-C-A | PCDH17 | c.2798-23703C>A | - | IntronicSNV | - | 3/3 |
8-143312933-A-C | TSNARE1 | c.1447-1993T>G | - | IntronicSNV | - | 12/13 |
7-12266814-A-G | TMEM106B | c.442-2491A>G | - | IntronicSNV | - | 5/8 |
17-44137925-T-C | KANSL1 | c.1848+5978A>G | - | IntronicSNV | - | 6/14 |
16-7667332-G-A | RBFOX1 | c.736+9992G>A | - | IntronicSNV | - | 7/12 |
16-7667332-G-C | RBFOX1 | c.736+9992G>C | - | IntronicSNV | - | 7/12 |
16-7667332-G-T | RBFOX1 | c.736+9992G>T | - | IntronicSNV | - | 7/12 |
13-58275043-C-G | PCDH17 | c.2798-23703C>G | - | IntronicSNV | - | 3/3 |
17-43987184-T-C | MAPT | c.-18+15132T>C | - | intron_variant | - | 1/13 |
17-44032470-C-T | MAPT | c.1-7234C>T | - | IntronicSNV | - | 1/13 |
8-143309504-C-A | TSNARE1 | c.*1341G>T | - | IntronicSNV | - | 13/13 |
6-101012187-A-T | ASCC3 | c.5551-23924T>A | - | IntronicSNV | - | 36/41 |
17-43974549-G-C | MAPT | c.-18+2497G>C | - | intron_variant | - | 1/13 |
9-23736400-A-G | ELAVL2 | c.230-5277T>C | - | IntronicSNV | - | 2/6 |
10-104592675-G-C | CYP17A1 | c.969+75C>G | - | IntronicSNV | - | 5/7 |
6-32408842-A-G | HLA-DRA | c.82+1033A>G | - | IntronicSNV | - | 1/4 |
6-31733466-T-C | VWA7 | c.2581A>G | p.Thr861Ala | Missense | 17/17 | - |
17-43552537-G-A | PLEKHM1 | c.852C>T | p.Cys284Cys | Synonymous | 4/12 | - |
17-44265328-A-G | KANSL1 | c.-90+4861T>C | - | intron_variant | - | 1/14 |
17-44183403-A-G | KANSL1 | c.1290-11336T>C | - | IntronicSNV | - | 2/14 |
11-112887410-C-G | NCAM1 | c.52+55024C>G | - | intron_variant | - | 2/19 |
17-43885291-G-A | CRHR1 | c.121+828G>A | - | IntronicSNV | - | 2/13 |
11-13301114-C-T | ARNTL | c.-263+1644C>T | - | intron_variant | - | 1/19 |
7-126380109-T-C | GRM8 | c.1357+29810A>G | - | IntronicSNV | - | 7/10 |
17-44063140-A-G | MAPT | c.1127-1266A>G | - | IntronicSNV | - | 6/13 |
1-8482078-C-T | RERE | c.1284+709G>A | - | IntronicSNV | - | 12/22 |
17-44178272-C-T | KANSL1 | c.1290-6205G>A | - | IntronicSNV | - | 2/14 |
20-18725471-A-G | DTD1 | c.*575A>G | - | IntronicSNV | - | 5/5 |
22-41652846-G-T | RANGAP1 | c.775-18C>A | - | IntronicSNV | - | 7/15 |
17-44075535-T-C | MAPT | c.1773+1505T>C | - | IntronicSNV | - | 10/13 |
7-127422539-T-G | SND1 | c.1153-24999T>G | - | IntronicSNV | - | 10/23 |
5-139648183-A-C | PFDN1 | c.285+12851T>G | - | IntronicSNV | - | 3/3 |
17-44078832-G-A | MAPT | c.1773+4802G>A | - | IntronicSNV | - | 10/13 |
10-104636655-G-C | AS3MT | c.529-56G>C | - | IntronicSNV | - | 6/10 |
12-109998591-T-C | MMAB | c.584+254A>G | - | IntronicSNV | - | 7/8 |
7-127430797-C-T | SND1 | c.1153-16741C>T | - | IntronicSNV | - | 10/23 |
17-44005254-T-A | MAPT | c.-18+33202T>A | - | intron_variant | - | 1/13 |
11-112850643-T-A | NCAM1 | c.52+18257T>A | - | intron_variant | - | 2/19 |
9-28582398-T-C | LINGO2 | c.-365+87800A>G | - | intron_variant | - | 2/6 |
11-47643891-T-A | MTCH2 | c.825+362A>T | - | IntronicSNV | - | 12/12 |
7-127612859-T-C | SND1 | c.1670-18141T>C | - | IntronicSNV | - | 15/23 |
20-33148861-T-G | PIGU | c.1195-78A>C | - | IntronicSNV | - | 11/11 |
14-75185748-T-A | FCF1 | c.292+2946T>A | - | IntronicSNV | - | 4/7 |
14-75286426-T-C | YLPM1 | c.6031-1334T>C | - | IntronicSNV | - | 16/20 |
16-7666774-C-T | RBFOX1 | c.736+9434C>T | - | IntronicSNV | - | 7/12 |
7-126381159-C-A | GRM8 | c.1357+28760G>T | - | IntronicSNV | - | 7/10 |
7-126381159-C-T | GRM8 | c.1357+28760G>A | - | IntronicSNV | - | 7/10 |
12-118704515-A-T | TAOK3 | c.-144T>A | - | 5_prime_UTR_variant | 2/21 | - |
7-126446586-G-T | GRM8 | c.1157-36467C>A | - | IntronicSNV | - | 6/10 |
9-96380352-G-T | PHF2 | c.99-11900G>T | - | IntronicSNV | - | 1/21 |
7-114192545-T-A | FOXP2 | c.258+17784T>A | - | IntronicSNV | - | 3/16 |
7-114192545-T-C | FOXP2 | c.258+17784T>C | - | IntronicSNV | - | 3/16 |
17-44863413-T-G | WNT3 | c.81-12138A>C | - | IntronicSNV | - | 1/4 |
17-44209628-T-G | KANSL1 | c.1290-37561A>C | - | IntronicSNV | - | 2/14 |
9-96249824-G-T | FAM120A | c.805-9929G>T | - | IntronicSNV | - | 3/17 |
11-47640429-G-C | MTCH2 | c.868C>G | p.Pro290Ala | Missense | 13/13 | - |
11-47640429-G-T | MTCH2 | c.868C>A | p.Pro290Thr | Missense | 13/13 | - |
17-44248769-T-A | KANSL1 | c.741A>T | p.Arg247Ser | Missense | 2/15 | - |
1-8464509-T-A | RERE | c.1284+18278A>T | - | IntronicSNV | - | 12/22 |
1-8464509-T-C | RERE | c.1284+18278A>G | - | IntronicSNV | - | 12/22 |
11-57467035-C-G | ZDHHC5 | c.1982+145C>G | - | IntronicSNV | - | 11/11 |
11-57467035-C-A | ZDHHC5 | c.1982+145C>A | - | IntronicSNV | - | 11/11 |
16-87385045-C-T | FBXO31 | c.413-4189G>A | - | IntronicSNV | - | 2/8 |
22-41701125-T-C | ZC3H7B | c.-7+3349T>C | - | intron_variant | - | 1/22 |
17-44026321-T-C | MAPT | c.1-13383T>C | - | IntronicSNV | - | 1/13 |
7-126289155-A-G | GRM8 | c.1358-39603T>C | - | IntronicSNV | - | 7/10 |
9-96407514-A-G | PHF2 | c.300-397A>G | - | IntronicSNV | - | 3/21 |
2-23895901-C-G | KLHL29 | c.941-11368C>G | - | IntronicSNV | - | 5/13 |
17-44147411-G-A | KANSL1 | c.1534-2378C>T | - | IntronicSNV | - | 4/14 |
9-96225478-A-T | FAM120A | c.475-7945A>T | - | IntronicSNV | - | 1/17 |
11-113270160-A-G | ANKK1 | c.1469A>G | p.His490Arg | Missense | 8/8 | - |
11-113270160-A-C | ANKK1 | c.1469A>C | p.His490Pro | Missense | 8/8 | - |
11-13372352-T-A | ARNTL | c.1-3504T>A | - | IntronicSNV | - | 2/19 |
6-32188297-G-A | NOTCH4 | c.1044C>T | p.Gly348Gly | Synonymous | 6/30 | - |
2-24210333-T-C | UBXN2A | c.584+2632T>C | - | IntronicSNV | - | 6/6 |
20-18684154-A-T | DTD1 | c.478-40590A>T | - | IntronicSNV | - | 4/5 |
7-12269417-C-A | TMEM106B | c.554C>A | p.Thr185Asn | Missense | 6/9 | - |
3-136154828-C-T | STAG1 | c.1547-2327G>A | - | IntronicSNV | - | 15/33 |
17-43996960-A-G | MAPT | c.-18+24908A>G | - | intron_variant | - | 1/13 |
17-44192568-C-G | KANSL1 | c.1290-20501G>C | - | IntronicSNV | - | 2/14 |
1-210265384-G-C | SYT14 | c.443-2283G>C | - | IntronicSNV | - | 4/7 |
22-41700030-G-T | ZC3H7B | c.-7+2254G>T | - | intron_variant | - | 1/22 |
22-41700030-G-C | ZC3H7B | c.-7+2254G>C | - | intron_variant | - | 1/22 |
4-90743331-C-T | SNCA | c.306+66G>A | - | IntronicSNV | - | 4/5 |
16-7668480-C-G | RBFOX1 | c.736+11140C>G | - | IntronicSNV | - | 7/12 |
7-114060663-A-G | FOXP2 | c.-11+5248A>G | - | intron_variant | - | 1/16 |
17-44161875-A-C | KANSL1 | c.1432-1967T>G | - | IntronicSNV | - | 3/14 |
18-35138110-T-G | CELF4 | c.286+7209A>C | - | IntronicSNV | - | 1/12 |
12-118617721-G-T | TAOK3 | c.1566+1455C>A | - | IntronicSNV | - | 15/20 |
17-44133396-G-A | KANSL1 | c.1849-5326C>T | - | IntronicSNV | - | 6/14 |
17-44207932-A-G | KANSL1 | c.1290-35865T>C | - | IntronicSNV | - | 2/14 |
5-139558584-C-T | CYSTM1 | c.-21+3714C>T | - | intron_variant | - | 1/2 |
1-8540341-G-A | RERE | c.1105-14258C>T | - | IntronicSNV | - | 10/22 |
17-44068289-G-A | MAPT | c.1381-537G>A | - | IntronicSNV | - | 8/13 |
17-44202952-C-G | KANSL1 | c.1290-30885G>C | - | IntronicSNV | - | 2/14 |
17-43490853-G-A | ARHGAP27 | c.1-7770C>T | - | IntronicSNV | - | 1/16 |
7-126415335-G-A | GRM8 | c.1157-5216C>T | - | IntronicSNV | - | 6/10 |
3-136037227-A-C | PCCB | c.1090+1321A>C | - | IntronicSNV | - | 10/14 |
7-127481278-A-G | SND1 | c.1243-3099A>G | - | IntronicSNV | - | 11/23 |
7-126378842-A-T | GRM8 | c.1357+31077T>A | - | IntronicSNV | - | 7/10 |
2-24144873-A-G | ATAD2B | c.216+4552T>C | - | IntronicSNV | - | 1/27 |
12-109995188-C-T | MMAB | c.645-247G>A | - | IntronicSNV | - | 8/8 |
7-126168972-A-C | GRM8 | c.2430+4034T>G | - | IntronicSNV | - | 9/10 |
2-23910775-C-G | KLHL29 | c.1079+3368C>G | - | IntronicSNV | - | 6/13 |
7-82061590-T-C | CACNA2D1 | c.95+11091A>G | - | IntronicSNV | - | 1/38 |
12-118596624-A-G | TAOK3 | c.2352+1327T>C | - | IntronicSNV | - | 19/20 |
7-126294960-A-G | GRM8 | c.1358-45408T>C | - | IntronicSNV | - | 7/10 |
14-75272433-A-T | YLPM1 | c.4521+3054A>T | - | IntronicSNV | - | 6/20 |
7-126394236-G-A | GRM8 | c.1357+15683C>T | - | IntronicSNV | - | 7/10 |
17-44787312-C-T | NSF | c.1471-1017C>T | - | IntronicSNV | - | 13/20 |
9-28607877-T-C | LINGO2 | c.-365+62321A>G | - | intron_variant | - | 2/6 |
18-50778737-C-T | DCC | c.1911+36770C>T | - | IntronicSNV | - | 12/28 |
3-52966558-C-G | SFMBT1 | c.454-234G>C | - | IntronicSNV | - | 5/20 |
9-126397433-C-T | DENND1A | c.619-4678G>A | - | IntronicSNV | - | 9/20 |
11-47394338-T-C | SPI1 | c.142+2846A>G | - | IntronicSNV | - | 2/4 |
11-47532395-T-G | CELF1 | c.1-21829A>C | - | IntronicSNV | - | 1/13 |
5-45537620-T-C | HCN1 | c.850-75511A>G | - | IntronicSNV | - | 2/7 |
16-88776499-G-T | CTU2 | c.222+75G>T | - | IntronicSNV | - | 3/13 |
12-118805125-T-A | TAOK3 | c.-194+5328A>T | - | intron_variant | - | 1/20 |
7-82066457-T-A | CACNA2D1 | c.95+6224A>T | - | IntronicSNV | - | 1/38 |
2-23910775-C-T | KLHL29 | c.1079+3368C>T | - | IntronicSNV | - | 6/13 |
2-148658595-G-C | ACVR2A | c.528+1128G>C | - | IntronicSNV | - | 4/10 |
2-212717215-G-A | ERBB4 | c.422-64331C>T | - | IntronicSNV | - | 3/26 |
17-44078616-G-A | MAPT | c.1773+4586G>A | - | IntronicSNV | - | 10/13 |
9-127883086-A-C | SCAI | c.98+21826T>G | - | IntronicSNV | - | 2/18 |
11-47659135-G-A | MTCH2 | c.279+1116C>T | - | IntronicSNV | - | 3/12 |
11-13302822-A-G | ARNTL | c.-263+3352A>G | - | intron_variant | - | 1/19 |
17-44091195-T-C | MAPT | c.1867-414T>C | - | IntronicSNV | - | 11/13 |
3-52966558-C-T | SFMBT1 | c.454-234G>A | - | IntronicSNV | - | 5/20 |
6-32076499-G-A | TNXB | c.-9+459C>T | - | intron_variant | - | 1/43 |
3-136470004-G-T | STAG1 | c.-84+1033C>A | - | intron_variant | - | 1/33 |
17-44145373-T-C | KANSL1 | c.1534-340A>G | - | IntronicSNV | - | 4/14 |
17-44145373-T-G | KANSL1 | c.1534-340A>C | - | IntronicSNV | - | 4/14 |
16-30980054-A-G | SETD1A | c.2771-572A>G | - | IntronicSNV | - | 10/18 |
7-126393463-G-C | GRM8 | c.1357+16456C>G | - | IntronicSNV | - | 7/10 |
12-109909154-G-T | KCTD10 | c.4-1621C>A | - | IntronicSNV | - | 1/6 |
6-31704294-G-T | CLIC1 | c.1-217C>A | - | 5-UTRSNV | 1/6 | - |
17-44076665-A-G | STH | c.20A>G | p.Gln7Arg | Missense | 1/1 | - |
7-82061819-T-C | CACNA2D1 | c.95+10862A>G | - | IntronicSNV | - | 1/38 |
7-82061819-T-A | CACNA2D1 | c.95+10862A>T | - | IntronicSNV | - | 1/38 |
18-53134652-T-C | TCF4 | c.146-3284A>G | - | IntronicSNV | - | 3/19 |
11-112911004-T-G | NCAM1 | c.52+78618T>G | - | intron_variant | - | 2/19 |
11-113299829-G-C | DRD2 | c.1-4456C>G | - | IntronicSNV | - | 1/7 |
9-127883905-A-G | SCAI | c.98+21007T>C | - | IntronicSNV | - | 2/18 |
7-126214998-C-T | GRM8 | c.1494+34418G>A | - | IntronicSNV | - | 8/10 |
1-174896299-A-G | RABGAP1L | c.298-30295A>G | - | IntronicSNV | - | 2/8 |
11-113314363-G-A | DRD2 | c.1-18990C>T | - | IntronicSNV | - | 1/7 |
17-44128125-A-G | KANSL1 | c.1849-55T>C | - | IntronicSNV | - | 6/14 |
5-45556378-C-T | HCN1 | c.849+88909G>A | - | IntronicSNV | - | 2/7 |
3-52997871-T-C | SFMBT1 | c.28+5246A>G | - | IntronicSNV | - | 2/20 |
11-113314363-G-T | DRD2 | c.1-18990C>A | - | IntronicSNV | - | 1/7 |
17-44188764-T-C | KANSL1 | c.1290-16697A>G | - | IntronicSNV | - | 2/14 |
3-107280486-T-C | BBX | c.-84+35241T>C | - | intron_variant | - | 2/16 |
11-113282812-A-C | DRD2 | c.1138+466T>G | - | IntronicSNV | - | 7/7 |
17-44192568-C-T | KANSL1 | c.1290-20501G>A | - | IntronicSNV | - | 2/14 |
3-107280486-T-A | BBX | c.-84+35241T>A | - | intron_variant | - | 2/16 |
9-120473338-T-C | TLR4 | c.261-1329T>C | - | IntronicSNV | - | 2/2 |
11-112850643-T-G | NCAM1 | c.52+18257T>G | - | intron_variant | - | 2/19 |
20-18737972-G-A | DTD1 | c.*20-6032G>A | - | intron_variant | - | 5/5 |
5-139648183-A-T | PFDN1 | c.285+12851T>A | - | IntronicSNV | - | 3/3 |
7-126244618-C-T | GRM8 | c.1494+4798G>A | - | IntronicSNV | - | 8/10 |
12-118630140-A-G | TAOK3 | c.1195-2394T>C | - | IntronicSNV | - | 13/20 |
20-44702120-T-C | NCOA5 | c.39-2945A>G | - | IntronicSNV | - | 2/7 |
6-26184102-G-T | HIST1H2BE | c.79G>T | p.Gly27Cys | Missense | 1/1 | - |
16-7666391-G-C | RBFOX1 | c.736+9051G>C | - | IntronicSNV | - | 7/12 |
17-43978320-G-A | MAPT | c.-18+6268G>A | - | intron_variant | - | 1/13 |
7-82066755-T-G | CACNA2D1 | c.95+5926A>C | - | IntronicSNV | - | 1/38 |
3-136000743-A-G | PCCB | c.544-1936A>G | - | IntronicSNV | - | 5/14 |
6-31714031-G-A | MSH5 | c.766+935G>A | - | IntronicSNV | - | 9/24 |
6-26184102-G-C | HIST1H2BE | c.79G>C | p.Gly27Arg | Missense | 1/1 | - |
17-44089690-T-C | MAPT | c.1867-1919T>C | - | IntronicSNV | - | 11/13 |
1-8677773-C-G | RERE | c.397-3028G>C | - | IntronicSNV | - | 3/22 |
6-32006886-G-A | CYP21A2 | c.308G>A | p.Arg103Lys | Missense | 3/10 | - |
17-44152447-G-A | KANSL1 | c.1533+7360C>T | - | IntronicSNV | - | 4/14 |
14-69680441-T-G | EXD2 | c.333+3921T>G | - | IntronicSNV | - | 3/9 |
5-64818120-T-A | CENPK | c.598-765A>T | - | IntronicSNV | - | 9/10 |
1-8510577-T-C | RERE | c.1203+15408A>G | - | IntronicSNV | - | 11/22 |
11-47431966-C-T | SLC39A13 | c.301+20C>T | - | IntronicSNV | - | 2/9 |
5-102608847-A-G | C5orf30 | c.1-2774A>G | - | IntronicSNV | - | 2/2 |
11-113262900-A-T | ANKK1 | c.186-1303A>T | - | IntronicSNV | - | 1/7 |
11-47437202-C-A | SLC39A13 | c.*288C>A | - | 3-UTRSNV | 10/10 | - |
2-24008091-C-G | ATAD2B | c.2973+806G>C | - | IntronicSNV | - | 21/27 |
7-126429497-C-G | GRM8 | c.1157-19378G>C | - | IntronicSNV | - | 6/10 |
7-126429497-C-T | GRM8 | c.1157-19378G>A | - | IntronicSNV | - | 6/10 |
11-47019777-G-C | C11orf49 | c.149+10916G>C | - | IntronicSNV | - | 2/8 |
17-43896528-C-G | CRHR1 | c.242-2193C>G | - | IntronicSNV | - | 3/13 |
11-47293799-G-C | MADD | c.1-1667G>C | - | IntronicSNV | - | 1/32 |
11-47019777-G-T | C11orf49 | c.149+10916G>T | - | IntronicSNV | - | 2/8 |
7-114318071-G-A | FOXP2 | c.2004-11766G>A | - | IntronicSNV | - | 16/16 |
17-43923180-G-C | SPPL2C | c.908G>C | p.Arg303Pro | Missense | 1/1 | - |
17-43923180-G-A | SPPL2C | c.908G>A | p.Arg303His | Missense | 1/1 | - |
9-98245026-A-G | PTCH1 | c.585-541T>C | - | IntronicSNV | - | 3/23 |
11-47462140-A-G | RAPSN | c.966+570T>C | - | IntronicSNV | - | 6/7 |
16-30015337-A-G | INO80E | c.514-1205A>G | - | IntronicSNV | - | 6/6 |
11-13314307-G-A | ARNTL | c.-263+14837G>A | - | intron_variant | - | 1/19 |
1-8614926-T-A | RERE | c.725+1608A>T | - | IntronicSNV | - | 6/22 |
1-8614926-T-C | RERE | c.725+1608A>G | - | IntronicSNV | - | 6/22 |
11-16355771-A-T | SOX6 | c.237+6787T>A | - | IntronicSNV | - | 2/15 |
7-114304563-C-T | FOXP2 | c.2003+72C>T | - | IntronicSNV | - | 16/16 |
20-32665748-A-G | RALY | c.829-563A>G | - | IntronicSNV | - | 7/8 |
7-126506790-T-C | GRM8 | c.1156+35806A>G | - | IntronicSNV | - | 6/10 |
6-31610686-A-G | BAG6 | c.1855T>C | p.Ser619Pro | Missense | 14/25 | - |
11-13300456-C-T | ARNTL | c.-263+986C>T | - | intron_variant | - | 1/19 |
2-24101066-A-G | ATAD2B | c.902-2292T>C | - | IntronicSNV | - | 7/27 |
9-96351217-C-T | PHF2 | c.98+12064C>T | - | IntronicSNV | - | 1/21 |
7-126431159-C-T | GRM8 | c.1157-21040G>A | - | IntronicSNV | - | 6/10 |
11-112879456-G-C | NCAM1 | c.52+47070G>C | - | intron_variant | - | 2/19 |
1-8738937-C-T | RERE | c.1-22581G>A | - | IntronicSNV | - | 1/22 |
7-126376147-C-A | GRM8 | c.1357+33772G>T | - | IntronicSNV | - | 7/10 |
17-44089727-G-A | MAPT | c.1867-1882G>A | - | IntronicSNV | - | 11/13 |
11-13303085-A-T | ARNTL | c.-263+3615A>T | - | intron_variant | - | 1/19 |
7-126285732-G-C | GRM8 | c.1358-36180C>G | - | IntronicSNV | - | 7/10 |
9-4145340-G-A | GLIS3 | c.-78+6727C>T | - | intron_variant | - | 1/9 |
17-44147511-G-C | KANSL1 | c.1534-2478C>G | - | IntronicSNV | - | 4/14 |
17-44054696-G-A | MAPT | c.308-1045G>A | - | IntronicSNV | - | 4/13 |
17-16193444-G-T | PIGL | c.336-9758G>T | - | IntronicSNV | - | 2/6 |
17-16193444-G-C | PIGL | c.336-9758G>C | - | IntronicSNV | - | 2/6 |
17-16193444-G-A | PIGL | c.336-9758G>A | - | IntronicSNV | - | 2/6 |
11-16355771-A-G | SOX6 | c.237+6787T>C | - | IntronicSNV | - | 2/15 |
12-109992149-C-G | MMAB | c.*2684G>C | - | 3-UTRSNV | 9/9 | - |
22-41627775-C-G | CHADL | c.2263-2041G>C | - | IntronicSNV | - | 5/5 |
1-8735664-C-T | RERE | c.1-19308G>A | - | IntronicSNV | - | 1/22 |
5-107626554-A-C | FBXL17 | c.1506+57546T>G | - | IntronicSNV | - | 4/8 |
2-24167385-G-A | UBXN2A | c.-15+3867G>A | - | intron_variant | - | 1/6 |
11-13335926-C-T | ARNTL | c.-190+4320C>T | - | intron_variant | - | 2/19 |
17-44083081-G-A | MAPT | c.1774-4595G>A | - | IntronicSNV | - | 10/13 |
18-35120132-G-A | CELF4 | c.286+25187C>T | - | IntronicSNV | - | 1/12 |
7-126285732-G-T | GRM8 | c.1358-36180C>A | - | IntronicSNV | - | 7/10 |
11-112922132-T-G | NCAM1 | c.52+89746T>G | - | intron_variant | - | 2/19 |
9-126353327-T-C | DENND1A | c.766-7778A>G | - | IntronicSNV | - | 11/20 |
5-64852186-A-G | CENPK | c.1-1452T>C | - | IntronicSNV | - | 2/10 |
3-136414321-C-A | STAG1 | c.-84+56716G>T | - | intron_variant | - | 1/33 |
17-43988205-A-G | MAPT | c.-18+16153A>G | - | intron_variant | - | 1/13 |
12-109937534-G-A | UBE3B | c.1037G>A | p.Arg346Gln | Missense | 12/28 | - |
3-136414321-C-G | STAG1 | c.-84+56716G>C | - | intron_variant | - | 1/33 |
3-136414321-C-T | STAG1 | c.-84+56716G>A | - | intron_variant | - | 1/33 |
9-96352934-G-A | PHF2 | c.98+13781G>A | - | IntronicSNV | - | 1/21 |
12-109973273-T-C | UBE3B | c.*686T>C | - | 3-UTRSNV | 28/28 | - |
11-95657111-T-C | MTMR2 | c.8A>G | p.Lys3Arg | Missense | 1/15 | - |
12-16753965-A-G | LMO3 | c.1-171T>C | - | IntronicSNV | - | 1/3 |
11-47857253-T-C | NUP160 | c.1051A>G | p.Thr351Ala | Missense | 7/36 | - |
11-47857253-T-G | NUP160 | c.1051A>C | p.Thr351Pro | Missense | 7/36 | - |
11-57477889-C-T | MED19 | c.217+1546G>A | - | IntronicSNV | - | 1/3 |
7-126281441-C-T | GRM8 | c.1358-31889G>A | - | IntronicSNV | - | 7/10 |
11-13299895-A-G | ARNTL | c.-263+425A>G | - | intron_variant | - | 1/19 |
17-43893716-C-T | CRHR1 | c.122-113C>T | - | IntronicSNV | - | 2/13 |
2-45170153-G-A | SIX3 | c.806+104G>A | - | IntronicSNV | - | 1/1 |
3-136466599-A-G | STAG1 | c.-84+4438T>C | - | intron_variant | - | 1/33 |
15-91428589-T-G | FES | c.214-53T>G | - | IntronicSNV | - | 2/18 |
1-8524877-G-A | RERE | c.1203+1108C>T | - | IntronicSNV | - | 11/22 |
1-8632791-A-T | RERE | c.523-15209T>A | - | IntronicSNV | - | 4/22 |
10-104591393-G-T | CYP17A1 | c.1140-25C>A | - | IntronicSNV | - | 6/7 |
5-64850219-C-G | CENPK | c.111+405G>C | - | IntronicSNV | - | 3/10 |
3-136468637-T-C | STAG1 | c.-84+2400A>G | - | intron_variant | - | 1/33 |
17-44214094-A-G | KANSL1 | c.1289+34127T>C | - | IntronicSNV | - | 2/14 |
20-18533187-G-A | SEC23B | c.1992+1368G>A | - | IntronicSNV | - | 17/19 |
14-69614979-G-A | DCAF5 | c.214+4503C>T | - | IntronicSNV | - | 1/8 |
20-18718861-T-A | DTD1 | c.478-5883T>A | - | IntronicSNV | - | 4/5 |
11-47655380-C-T | MTCH2 | c.369+844G>A | - | IntronicSNV | - | 5/12 |
20-18744383-T-C | DTD1 | c.*399T>C | - | 3_prime_UTR_variant | 6/6 | - |
7-126109819-A-T | GRM8 | c.2431-23393T>A | - | IntronicSNV | - | 9/10 |
17-44068924-G-T | MAPT | c.1479G>T | p.Pro493Pro | Synonymous | 9/14 | - |
3-136381368-A-C | STAG1 | c.1-31628T>G | - | IntronicSNV | - | 1/33 |
18-50967028-T-C | DCC | c.3229+5449T>C | - | IntronicSNV | - | 22/28 |
16-30995669-T-A | SETD1A | c.*325T>A | - | 3-UTRSNV | 19/19 | - |
1-8639357-T-C | RERE | c.523-21775A>G | - | IntronicSNV | - | 4/22 |
17-44248814-G-A | KANSL1 | c.696C>T | p.Ser232Ser | Synonymous | 2/15 | - |
1-8537289-G-A | RERE | c.1105-11206C>T | - | IntronicSNV | - | 10/22 |
1-8686862-G-A | RERE | c.326-2423C>T | - | IntronicSNV | - | 2/22 |
17-2583976-G-T | PAFAH1B1 | c.1159+362G>T | - | IntronicSNV | - | 10/10 |
2-148832035-C-A | MBD5 | c.-925+52782C>A | - | intron_variant | - | 2/14 |
11-112857202-A-T | NCAM1 | c.52+24816A>T | - | intron_variant | - | 2/19 |
14-69662105-A-G | EXD2 | c.-132+3797A>G | - | intron_variant | - | 1/9 |
2-24431184-C-T | ITSN2 | c.4600G>A | p.Ala1534Thr | Missense | 37/40 | - |
18-50967252-C-T | DCC | c.3229+5673C>T | - | IntronicSNV | - | 22/28 |
11-112866456-C-T | NCAM1 | c.52+34070C>T | - | intron_variant | - | 2/19 |
11-47805856-G-A | NUP160 | c.3990+618C>T | - | IntronicSNV | - | 33/35 |
2-44973791-A-T | CAMKMT | c.698+2956A>T | - | IntronicSNV | - | 8/10 |
14-69594913-T-C | DCAF5 | c.215-5836A>G | - | IntronicSNV | - | 1/8 |
17-2564267-G-A | PAFAH1B1 | c.33-4399G>A | - | IntronicSNV | - | 2/10 |
20-18530186-A-G | SEC23B | c.1905+772A>G | - | IntronicSNV | - | 16/19 |
17-44068924-G-A | MAPT | c.1479G>A | p.Pro493Pro | Synonymous | 9/14 | - |
2-24059049-G-A | ATAD2B | c.1569-2101C>T | - | IntronicSNV | - | 13/27 |
22-41753603-G-A | ZC3H7B | c.*170G>A | - | 3-UTRSNV | 23/23 | - |
11-112842976-T-C | NCAM1 | c.52+10590T>C | - | intron_variant | - | 2/19 |
1-8612104-G-C | RERE | c.725+4430C>G | - | IntronicSNV | - | 6/22 |
14-69662117-C-T | EXD2 | c.-132+3809C>T | - | intron_variant | - | 1/9 |
17-44070111-G-C | MAPT | c.1507+1159G>C | - | IntronicSNV | - | 9/13 |
7-114296545-A-C | FOXP2 | c.1267-1576A>C | - | IntronicSNV | - | 10/16 |
3-52797634-G-C | NEK4 | c.673C>G | p.Pro225Ala | Missense | 5/16 | - |
9-96358301-C-T | PHF2 | c.98+19148C>T | - | IntronicSNV | - | 1/21 |
4-90756550-C-A | SNCA | c.121+148G>T | - | IntronicSNV | - | 2/5 |
7-126189370-T-C | GRM8 | c.1495-15429A>G | - | IntronicSNV | - | 8/10 |
10-104897985-T-G | NT5C2 | c.175+1178A>C | - | IntronicSNV | - | 4/18 |
5-102608213-G-T | C5orf30 | c.1-3408G>T | - | IntronicSNV | - | 2/2 |
2-24431184-C-A | ITSN2 | c.4600G>T | p.Ala1534Ser | Missense | 37/40 | - |
17-44083402-G-A | MAPT | c.1774-4274G>A | - | IntronicSNV | - | 10/13 |
11-47685829-C-T | AGBL2 | c.2449-1165G>A | - | IntronicSNV | - | 17/18 |
12-109909011-A-C | KCTD10 | c.4-1478T>G | - | IntronicSNV | - | 1/6 |
12-109909011-A-G | KCTD10 | c.4-1478T>C | - | IntronicSNV | - | 1/6 |
1-197700895-T-C | DENND1B | c.83-16691A>G | - | IntronicSNV | - | 2/15 |
5-64850219-C-A | CENPK | c.111+405G>T | - | IntronicSNV | - | 3/10 |
11-47046554-G-T | C11orf49 | c.150-27385G>T | - | IntronicSNV | - | 2/8 |
7-38921872-C-T | VPS41 | c.61-13019G>A | - | IntronicSNV | - | 2/28 |
3-50328588-C-G | IFRD2 | c.251-478G>C | - | IntronicSNV | - | 1/11 |
6-30076660-G-A | TRIM31 | c.767+143C>T | - | IntronicSNV | - | 5/8 |
6-32094593-T-C | ATF6B | c.333+287A>G | - | IntronicSNV | - | 4/17 |
11-47706086-C-T | AGBL2 | c.1788+1359G>A | - | IntronicSNV | - | 11/18 |
18-53009757-C-A | TCF4 | c.549+7833G>T | - | IntronicSNV | - | 8/19 |
17-43995990-A-G | MAPT | c.-18+23938A>G | - | intron_variant | - | 1/13 |
18-52923720-G-T | TCF4 | c.1146+826C>A | - | IntronicSNV | - | 14/19 |
2-24026579-T-C | ATAD2B | c.2455-5386A>G | - | IntronicSNV | - | 18/27 |
18-52923720-G-A | TCF4 | c.1146+826C>T | - | IntronicSNV | - | 14/19 |
17-43476807-A-G | ARHGAP27 | c.721-1394T>C | - | IntronicSNV | - | 9/16 |
11-113293596-T-A | DRD2 | c.285+1493A>T | - | IntronicSNV | - | 2/7 |
11-112856137-T-C | NCAM1 | c.52+23751T>C | - | intron_variant | - | 2/19 |
9-96249824-G-C | FAM120A | c.805-9929G>C | - | IntronicSNV | - | 3/17 |
2-144215811-C-T | ARHGAP15 | c.703+21200C>T | - | IntronicSNV | - | 8/13 |
3-136154828-C-G | STAG1 | c.1547-2327G>C | - | IntronicSNV | - | 15/33 |
5-64815900-T-C | CENPK | c.651+1402A>G | - | IntronicSNV | - | 10/10 |
17-44005615-A-G | MAPT | c.-18+33563A>G | - | intron_variant | - | 1/13 |
17-44061898-T-C | MAPT | c.1126+602T>C | - | IntronicSNV | - | 6/13 |
14-75272433-A-C | YLPM1 | c.4521+3054A>C | - | IntronicSNV | - | 6/20 |
17-44012343-G-A | MAPT | c.1-27361G>A | - | IntronicSNV | - | 1/13 |
6-31597753-G-A | PRRC2A | c.2254+131G>A | - | IntronicSNV | - | 14/30 |
14-75272433-A-G | YLPM1 | c.4521+3054A>G | - | IntronicSNV | - | 6/20 |
7-126458996-C-T | GRM8 | c.1157-48877G>A | - | IntronicSNV | - | 6/10 |
2-24223086-G-A | UBXN2A | c.*349G>A | - | 3-UTRSNV | 7/7 | - |
7-126447627-G-C | GRM8 | c.1157-37508C>G | - | IntronicSNV | - | 6/10 |
17-44024562-G-T | MAPT | c.1-15142G>T | - | IntronicSNV | - | 1/13 |
20-44700166-T-C | NCOA5 | c.39-991A>G | - | IntronicSNV | - | 2/7 |
17-44024562-G-A | MAPT | c.1-15142G>A | - | IntronicSNV | - | 1/13 |
10-104829102-G-A | CNNM2 | c.2167+623G>A | - | IntronicSNV | - | 5/7 |
10-104829102-G-C | CNNM2 | c.2167+623G>C | - | IntronicSNV | - | 5/7 |
7-114297820-G-A | FOXP2 | c.1267-301G>A | - | IntronicSNV | - | 10/16 |
7-114302833-T-G | FOXP2 | c.1769+592T>G | - | IntronicSNV | - | 14/16 |
11-113268059-G-A | ANKK1 | c.952G>A | p.Gly318Arg | Missense | 6/8 | - |
11-13320525-G-A | ARNTL | c.-262-11009G>A | - | intron_variant | - | 1/19 |
11-113293596-T-G | DRD2 | c.285+1493A>C | - | IntronicSNV | - | 2/7 |
3-49334768-G-A | USP4 | c.1550+535C>T | - | IntronicSNV | - | 12/20 |
9-96364755-G-T | PHF2 | c.98+25602G>T | - | IntronicSNV | - | 1/21 |
1-173947922-T-C | RC3H1 | c.970-164A>G | - | IntronicSNV | - | 6/19 |
7-126417187-T-C | GRM8 | c.1157-7068A>G | - | IntronicSNV | - | 6/10 |
22-41656509-G-A | RANGAP1 | c.615+941C>T | - | IntronicSNV | - | 6/15 |
17-44134910-G-A | KANSL1 | c.1849-6840C>T | - | IntronicSNV | - | 6/14 |
17-44113963-C-T | KANSL1 | c.2541+1941G>A | - | IntronicSNV | - | 10/14 |
3-136468637-T-A | STAG1 | c.-84+2400A>T | - | intron_variant | - | 1/33 |
9-96381765-C-T | PHF2 | c.99-10487C>T | - | IntronicSNV | - | 1/21 |
19-733426-T-C | PALM | c.421-747T>C | - | IntronicSNV | - | 5/8 |
7-114332246-G-T | FOXP2 | c.*2265G>T | - | 3-UTRSNV | 17/17 | - |
1-197388125-T-C | CRB1 | c.1172-2005T>C | - | IntronicSNV | - | 5/11 |
10-104572963-T-C | WBP1L | c.904T>C | p.Ser302Pro | Missense | 4/4 | - |
11-13301114-C-G | ARNTL | c.-263+1644C>G | - | intron_variant | - | 1/19 |
16-7662707-A-C | RBFOX1 | c.736+5367A>C | - | IntronicSNV | - | 7/12 |
17-44049867-A-G | MAPT | c.220+556A>G | - | IntronicSNV | - | 3/13 |
5-64847922-G-A | CENPK | c.168+398C>T | - | IntronicSNV | - | 4/10 |
18-53059320-G-A | TCF4 | c.369+11365C>T | - | IntronicSNV | - | 6/19 |
10-104631663-G-A | AS3MT | c.171-542G>A | - | IntronicSNV | - | 3/10 |
7-127533877-T-C | SND1 | c.1454+5812T>C | - | IntronicSNV | - | 13/23 |
7-114313199-A-G | FOXP2 | c.2003+8708A>G | - | IntronicSNV | - | 16/16 |
11-46818814-G-A | CKAP5 | c.1339-324C>T | - | IntronicSNV | - | 11/42 |
7-12276885-T-C | TMEM106B | c.*5284T>C | - | 3-UTRSNV | 9/9 | - |
11-13317964-G-A | ARNTL | c.-262-13570G>A | - | intron_variant | - | 1/19 |
11-13331324-G-A | ARNTL | c.-262-210G>A | - | intron_variant | - | 1/19 |
11-13303071-C-T | ARNTL | c.-263+3601C>T | - | intron_variant | - | 1/19 |
6-105441888-A-G | LIN28B | c.199-32285A>G | - | IntronicSNV | - | 2/3 |
7-2099361-T-C | MAD1L1 | c.1218+9468A>G | - | IntronicSNV | - | 12/18 |
1-8447404-C-G | RERE | c.1285-21370G>C | - | IntronicSNV | - | 12/22 |
1-8447404-C-A | RERE | c.1285-21370G>T | - | IntronicSNV | - | 12/22 |
6-31863433-C-A | EHMT2 | c.582+607G>T | - | IntronicSNV | - | 4/27 |
3-107246785-G-T | BBX | c.-84+1540G>T | - | intron_variant | - | 2/16 |
16-7670326-C-A | RBFOX1 | c.737-10279C>A | - | IntronicSNV | - | 7/12 |
11-13323786-G-A | ARNTL | c.-262-7748G>A | - | intron_variant | - | 1/19 |
7-2051503-C-G | MAD1L1 | c.1359+2634G>C | - | IntronicSNV | - | 13/18 |
22-41617897-G-C | L3MBTL2 | c.942+606G>C | - | IntronicSNV | - | 8/16 |
22-41617897-G-A | L3MBTL2 | c.942+606G>A | - | IntronicSNV | - | 8/16 |
7-114307150-C-G | FOXP2 | c.2003+2659C>G | - | IntronicSNV | - | 16/16 |
17-44021717-G-C | MAPT | c.1-17987G>C | - | IntronicSNV | - | 1/13 |
17-44021717-G-A | MAPT | c.1-17987G>A | - | IntronicSNV | - | 1/13 |
6-31708463-C-A | MSH5 | c.147+73C>A | - | IntronicSNV | - | 2/24 |
11-13363898-A-C | ARNTL | c.1-11958A>C | - | IntronicSNV | - | 1/19 |
11-13363898-A-T | ARNTL | c.1-11958A>T | - | IntronicSNV | - | 1/19 |
7-2099361-T-A | MAD1L1 | c.1218+9468A>T | - | IntronicSNV | - | 12/18 |
17-43911832-T-C | CRHR1 | c.1195-158T>C | - | IntronicSNV | - | 13/13 |
15-91428636-G-C | FES | c.214-6G>C | - | IntronicSNV | - | 2/18 |
11-47832793-G-A | NUP160 | c.2241+823C>T | - | IntronicSNV | - | 17/35 |
11-57560452-A-C | CTNND1 | c.196-1030A>C | - | IntronicSNV | - | 3/18 |
17-44091724-G-A | MAPT | c.1948+34G>A | - | IntronicSNV | - | 12/13 |
17-44130587-T-G | KANSL1 | c.1849-2517A>C | - | IntronicSNV | - | 6/14 |
1-8699047-T-C | RERE | c.326-14608A>G | - | IntronicSNV | - | 2/22 |
20-18727600-G-A | DTD1 | c.*2704G>A | - | IntronicSNV | - | 5/5 |
3-136319949-C-T | STAG1 | c.297+3202G>A | - | IntronicSNV | - | 4/33 |
17-44020282-G-A | MAPT | c.1-19422G>A | - | IntronicSNV | - | 1/13 |
1-8447404-C-T | RERE | c.1285-21370G>A | - | IntronicSNV | - | 12/22 |
17-44039410-A-G | MAPT | c.1-294A>G | - | IntronicSNV | - | 1/13 |
1-8693537-A-T | RERE | c.326-9098T>A | - | IntronicSNV | - | 2/22 |
16-87396858-T-C | FBXO31 | c.341-2886A>G | - | IntronicSNV | - | 1/8 |
11-112909396-C-T | NCAM1 | c.52+77010C>T | - | intron_variant | - | 2/19 |
22-41569124-T-C | EP300 | c.4617+457T>C | - | IntronicSNV | - | 28/30 |
16-30016022-C-G | INO80E | c.514-520C>G | - | IntronicSNV | - | 6/6 |
16-30016022-C-T | INO80E | c.514-520C>T | - | IntronicSNV | - | 6/6 |
7-127581677-G-A | SND1 | c.1669+12295G>A | - | IntronicSNV | - | 15/23 |
7-126278863-C-T | GRM8 | c.1358-29311G>A | - | IntronicSNV | - | 7/10 |
22-41617897-G-T | L3MBTL2 | c.942+606G>T | - | IntronicSNV | - | 8/16 |
11-113302514-C-T | DRD2 | c.1-7141G>A | - | IntronicSNV | - | 1/7 |
16-7668396-G-A | RBFOX1 | c.736+11056G>A | - | IntronicSNV | - | 7/12 |
17-43912582-C-T | CRHR1 | c.*452C>T | - | 3-UTRSNV | 14/14 | - |
17-44196447-T-C | KANSL1 | c.1290-24380A>G | - | IntronicSNV | - | 2/14 |
9-96352243-T-A | PHF2 | c.98+13090T>A | - | IntronicSNV | - | 1/21 |
7-127350196-G-A | SND1 | c.1038+2495G>A | - | IntronicSNV | - | 9/23 |
15-91428636-G-A | FES | c.214-6G>A | - | IntronicSNV | - | 2/18 |
18-63549860-C-G | CDH7 | c.*1730C>G | - | IntergenicSNV | 12/12 | - |
7-126445042-A-G | GRM8 | c.1157-34923T>C | - | IntronicSNV | - | 6/10 |
17-44004472-A-G | MAPT | c.-18+32420A>G | - | intron_variant | - | 1/13 |
2-24143063-T-C | ATAD2B | c.216+6362A>G | - | IntronicSNV | - | 1/27 |
17-43484496-C-T | ARHGAP27 | c.1-1413G>A | - | IntronicSNV | - | 1/16 |
9-96365758-A-G | PHF2 | c.99-26494A>G | - | IntronicSNV | - | 1/21 |
7-126400753-T-C | GRM8 | c.1357+9166A>G | - | IntronicSNV | - | 7/10 |
17-44025347-T-C | MAPT | c.1-14357T>C | - | IntronicSNV | - | 1/13 |
11-46890165-C-A | LRP4 | c.4937G>T | p.Arg1646Leu | Missense | 33/38 | - |
11-99571306-T-C | CNTN5 | c.56-118969T>C | - | IntronicS |