Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-176792249-A-G | PAPPA2 | c.5203-17060A>G | - | IntronicSNV | - | 21/22 |
3-133477701-T-C | TF | c.1049-318T>C | - | IntronicSNV | - | 8/16 |
4-39343940-C-A | RFC1 | c.331+25G>T | - | IntronicSNV | - | 4/24 |
6-130374461-T-G | L3MBTL3 | c.582+325T>G | - | IntronicSNV | - | 7/22 |
6-130374461-T-A | L3MBTL3 | c.582+325T>A | - | IntronicSNV | - | 7/22 |
15-40312615-A-G | EIF2AK4 | c.4174-485A>G | - | IntronicSNV | - | 30/38 |
13-32953388-T-C | BRCA2 | c.8755-66T>C | - | IntronicSNV | - | 21/26 |
9-71434707-A-C | PIP5K1B | c.-1+1246A>C | - | intron_variant | - | 3/15 |
9-71434707-A-T | PIP5K1B | c.-1+1246A>T | - | intron_variant | - | 3/15 |
17-8162820-T-C | PFAS | c.1336+1303T>C | - | IntronicSNV | - | 11/27 |
9-78542286-G-A | PCSK5 | c.193-5009G>A | - | IntronicSNV | - | 1/36 |
21-35150947-A-G | ITSN1 | c.1597-2818A>G | - | IntronicSNV | - | 14/39 |
9-28414339-A-G | LINGO2 | c.-278-41473T>C | - | intron_variant | - | 3/6 |
17-29164023-C-A | ATAD5 | c.1968-201C>A | - | IntronicSNV | - | 2/22 |
17-29164023-C-G | ATAD5 | c.1968-201C>G | - | IntronicSNV | - | 2/22 |
4-77373079-C-T | SHROOM3 | c.168+15706C>T | - | IntronicSNV | - | 1/10 |
9-117011595-C-T | COL27A1 | c.2980-1300C>T | - | IntronicSNV | - | 24/60 |
17-44856641-G-C | WNT3 | c.81-5366C>G | - | IntronicSNV | - | 1/4 |
2-203532304-A-G | FAM117B | c.602-28300A>G | - | IntronicSNV | - | 1/7 |
8-30280630-A-G | RBPMS | c.66+37956A>G | - | IntronicSNV | - | 1/8 |
22-30487619-G-A | HORMAD2 | c.1-2323G>A | - | IntronicSNV | - | 1/10 |
2-169707428-C-T | NOSTRIN | c.397-166C>T | - | IntronicSNV | - | 7/14 |
6-158929442-T-A | TULP4 | c.*1716T>A | - | 3-UTRSNV | 14/14 | - |
7-80299850-T-A | CD36 | c.819-443T>A | - | IntronicSNV | - | 9/13 |
17-43906828-G-A | CRHR1 | c.435-99G>A | - | IntronicSNV | - | 5/13 |
10-61469090-C-T | SLC16A9 | c.-37+147G>A | - | intron_variant | - | 1/5 |
1-40777842-A-G | COL9A2 | c.364-58T>C | - | IntronicSNV | - | 7/31 |
7-151407801-G-A | PRKAG2 | c.467-35078C>T | - | IntronicSNV | - | 3/15 |
1-23766233-C-T | ASAP3 | c.945-510G>A | - | IntronicSNV | - | 10/24 |
4-88024738-A-G | AFF1 | c.1263-2042A>G | - | IntronicSNV | - | 7/19 |
10-32557592-G-C | EPC1 | c.*399C>G | - | 3-UTRSNV | 14/14 | - |
11-85432420-A-T | SYTL2 | c.5327-418T>A | - | intron_variant | - | 8/19 |
2-219305404-G-C | VIL1 | c.2230-41G>C | - | IntronicSNV | - | 18/19 |
10-46002954-C-A | MARCH8 | c.103-18089G>T | - | IntronicSNV | - | 2/6 |
17-21284223-A-G | KCNJ12 | c.-179+3998A>G | - | intron_variant | - | 1/2 |
4-106106353-C-T | TET2 | c.-192-5164C>T | - | intron_variant | - | 1/2 |
4-106106353-C-G | TET2 | c.-192-5164C>G | - | intron_variant | - | 1/2 |
4-106106353-C-A | TET2 | c.-192-5164C>A | - | intron_variant | - | 1/2 |
1-201784287-A-C | NAV1 | c.5340+1901A>C | - | IntronicSNV | - | 28/29 |
6-109723939-G-A | PPIL6 | c.766+295C>T | - | IntronicSNV | - | 7/8 |
8-57095808-T-C | PLAG1 | c.-321-3736A>G | - | intron_variant | - | 1/4 |
12-123796238-C-T | SBNO1 | c.3218-562G>A | - | IntronicSNV | - | 24/31 |
3-105204701-T-C | ALCAM | c.74-34210T>C | - | IntronicSNV | - | 1/15 |
4-145035788-G-A | GYPA | c.436+54C>T | - | IntronicSNV | - | 6/6 |
1-93558818-A-G | MTF2 | c.5+13730A>G | - | IntronicSNV | - | 1/14 |
15-90623052-T-C | ZNF710 | c.1986T>C | p.Asn662Asn | Synonymous | 5/5 | - |
1-93558818-A-T | MTF2 | c.5+13730A>T | - | IntronicSNV | - | 1/14 |
5-173362458-G-A | CPEB4 | c.1258+2955G>A | - | IntronicSNV | - | 3/9 |
7-55889334-G-A | SEPT14 | c.721-2418C>T | - | IntronicSNV | - | 6/9 |
12-120589160-A-G | GCN1 | c.4098T>C | p.Leu1366Leu | Synonymous | 34/58 | - |
17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
12-120589160-A-T | GCN1 | c.4098T>A | p.Leu1366Leu | Synonymous | 34/58 | - |
12-28112256-C-A | PTHLH | c.525-755G>T | - | IntronicSNV | - | 5/5 |
12-28112256-C-T | PTHLH | c.525-755G>A | - | IntronicSNV | - | 5/5 |
11-75531695-C-T | UVRAG | c.117+5126C>T | - | IntronicSNV | - | 1/14 |
11-75531695-C-A | UVRAG | c.117+5126C>A | - | IntronicSNV | - | 1/14 |
15-51530495-G-A | CYP19A1 | c.146-1289C>T | - | IntronicSNV | - | 2/9 |
7-72129667-C-T | TYW1B | c.1506+30010G>A | - | intron_variant | - | 12/14 |
8-116533758-A-G | TRPS1 | c.2700+65470T>C | - | IntronicSNV | - | 5/6 |
1-10357806-G-C | KIF1B | c.1977+502G>C | - | IntronicSNV | - | 20/46 |
6-151874122-A-G | CCDC170 | c.774+4498A>G | - | IntronicSNV | - | 5/10 |
15-56504598-G-A | RFX7 | c.161+30725C>T | - | IntronicSNV | - | 2/9 |
3-52831701-C-G | ITIH3 | c.550-132C>G | - | IntronicSNV | - | 5/21 |
21-30499897-A-C | MAP3K7CL | c.371-21613A>C | - | IntronicSNV | - | 7/9 |
14-55245149-A-G | SAMD4A | c.2044+1891A>G | - | IntronicSNV | - | 11/12 |
7-106792704-T-C | PRKAR2B | c.844-918T>C | - | IntronicSNV | - | 7/10 |
4-88750703-C-T | MEPE | c.1-5164C>T | - | IntronicSNV | - | 1/3 |
12-94126925-T-G | CRADD | c.298+54077T>G | - | IntronicSNV | - | 2/2 |
21-35107734-C-T | ITSN1 | c.346+225C>T | - | IntronicSNV | - | 5/39 |
15-61408362-G-A | RORA | c.166+112890C>T | - | IntronicSNV | - | 1/10 |
14-55203126-G-A | SAMD4A | c.716-616G>A | - | IntronicSNV | - | 3/12 |
1-110154688-T-C | GNAT2 | c.118+687A>G | - | IntronicSNV | - | 1/7 |
4-39365720-A-G | RFC1 | c.3+2139T>C | - | IntronicSNV | - | 1/24 |
2-24007122-T-C | ATAD2B | c.2974-1224A>G | - | IntronicSNV | - | 21/27 |
13-109419159-G-T | MYO16 | c.442-18824G>T | - | IntronicSNV | - | 4/34 |
12-66351826-T-G | HMGA2 | c.283-5199T>G | - | IntronicSNV | - | 4/4 |
1-156700651-T-G | RRNAD1 | c.112-1132T>G | - | IntronicSNV | - | 1/7 |
1-120272477-T-C | PHGDH | c.510+2752T>C | - | IntronicSNV | - | 5/11 |
2-56111309-C-T | EFEMP1 | c.518-2440G>A | - | IntronicSNV | - | 5/11 |
12-20536371-G-A | PDE3A | c.960+13193G>A | - | IntronicSNV | - | 1/15 |
10-104869038-T-C | NT5C2 | c.176-2575A>G | - | IntronicSNV | - | 4/18 |
2-33405151-T-C | LTBP1 | c.1202-6772T>C | - | IntronicSNV | - | 5/33 |
16-15129970-A-G | PDXDC1 | c.2205A>G | p.Leu735Leu | Synonymous | 23/23 | - |
19-35556744-T-C | HPN | c.1051-28T>C | - | IntronicSNV | - | 12/13 |
1-11862778-A-G | MTHFR | c.236+160T>C | - | IntronicSNV | - | 2/11 |
17-36922196-A-G | PIP4K2B | c.*3748T>C | - | 3-UTRSNV | 10/10 | - |
12-112007756-C-T | ATXN2 | c.252-14033G>A | - | intron_variant | - | 1/24 |
12-121126438-T-C | MLEC | c.235+1104T>C | - | IntronicSNV | - | 1/4 |
12-121126438-T-G | MLEC | c.235+1104T>G | - | IntronicSNV | - | 1/4 |
4-40151912-C-T | N4BP2 | c.5144-2488C>T | - | IntronicSNV | - | 16/17 |
4-40151912-C-A | N4BP2 | c.5144-2488C>A | - | IntronicSNV | - | 16/17 |
3-71521494-C-T | FOXP1 | c.-168+21083G>A | - | intron_variant | - | 3/20 |
3-135974216-G-A | PCCB | c.184-482G>A | - | IntronicSNV | - | 1/14 |
3-12628920-G-C | RAF1 | c.1417+170C>G | - | IntronicSNV | - | 13/16 |
17-37665554-G-C | CDK12 | c.2610-404G>C | - | IntronicSNV | - | 6/13 |
17-37665554-G-A | CDK12 | c.2610-404G>A | - | IntronicSNV | - | 6/13 |
12-56740682-C-G | STAT2 | c.1782G>C | p.Met594Ile | Missense | 20/24 | - |
3-12632652-G-C | RAF1 | c.1194-179C>G | - | IntronicSNV | - | 11/16 |
17-64210580-A-G | APOH | c.973T>C | p.Cys325Arg | Missense | 7/8 | - |
6-35246903-G-A | ZNF76 | c.1-2026G>A | - | IntronicSNV | - | 1/13 |
7-121033121-T-C | FAM3C | c.-42+3135A>G | - | intron_variant | - | 1/9 |
3-123065778-A-G | ADCY5 | c.1406+851T>C | - | IntronicSNV | - | 3/20 |
2-169763148-T-C | G6PC2 | c.441-26T>C | - | IntronicSNV | - | 3/4 |
5-112176756-T-A | APC | c.5465T>A | p.Val1822Asp | Missense | 16/16 | - |
5-112176756-T-G | APC | c.5465T>G | p.Val1822Gly | Missense | 16/16 | - |
10-71094504-T-C | HK1 | c.64-9079T>C | - | IntronicSNV | - | 1/17 |
10-101912194-C-T | ERLIN1 | c.826-85G>A | - | IntronicSNV | - | 10/10 |
6-85448103-C-T | TBX18 | c.1099+112G>A | - | IntronicSNV | - | 7/7 |
2-44774202-C-T | CAMKMT | c.376+156758C>T | - | IntronicSNV | - | 3/10 |
2-44774202-C-A | CAMKMT | c.376+156758C>A | - | IntronicSNV | - | 3/10 |
8-8863059-C-G | ERI1 | c.108+2378C>G | - | IntronicSNV | - | 1/6 |
7-28751137-T-C | CREB5 | c.444-7233T>C | - | IntronicSNV | - | 5/10 |
7-28751137-T-G | CREB5 | c.444-7233T>G | - | IntronicSNV | - | 5/10 |
1-51440093-C-T | CDKN2C | c.*151C>T | - | 3-UTRSNV | 3/3 | - |
1-51440093-C-A | CDKN2C | c.*151C>A | - | 3-UTRSNV | 3/3 | - |
2-178684720-G-C | PDE11A | c.244+227C>G | - | IntronicSNV | - | 4/16 |
2-178684720-G-A | PDE11A | c.244+227C>T | - | IntronicSNV | - | 4/16 |
2-36768875-G-A | CRIM1 | c.2624-2644G>A | - | IntronicSNV | - | 14/16 |
14-103878774-C-A | MARK3 | c.243+7170C>A | - | IntronicSNV | - | 2/17 |
1-183054827-A-G | LAMC1 | c.419-17636A>G | - | IntronicSNV | - | 1/27 |
1-183054827-A-C | LAMC1 | c.419-17636A>C | - | IntronicSNV | - | 1/27 |
19-1855583-C-T | KLF16 | c.458-824G>A | - | IntronicSNV | - | 1/1 |
10-104791595-C-T | CNNM2 | c.1622-17869C>T | - | IntronicSNV | - | 1/7 |
10-104791595-C-G | CNNM2 | c.1622-17869C>G | - | IntronicSNV | - | 1/7 |
11-128577624-G-C | FLI1 | c.18+13453G>C | - | IntronicSNV | - | 1/8 |
3-49898000-A-G | CAMKV | c.776-18T>C | - | IntronicSNV | - | 8/10 |
3-196516288-A-C | PAK2 | c.187+6584A>C | - | IntronicSNV | - | 2/14 |
3-196516288-A-G | PAK2 | c.187+6584A>G | - | IntronicSNV | - | 2/14 |
3-58374029-A-G | PXK | c.389-2280A>G | - | IntronicSNV | - | 4/17 |
17-59448945-A-G | BCAS3 | c.2593+3090A>G | - | IntronicSNV | - | 23/23 |
18-50818827-C-A | DCC | c.1912-13121C>A | - | IntronicSNV | - | 12/28 |
3-185651001-T-C | TRA2B | c.36+4612A>G | - | IntronicSNV | - | 1/8 |
10-105577409-G-A | SH3PXD2A | c.73-16289C>T | - | IntronicSNV | - | 1/13 |
20-62711459-C-T | OPRL1 | c.-431C>T | - | 5_prime_UTR_variant | 1/5 | - |
17-63549488-A-C | AXIN2 | c.816-3710T>G | - | IntronicSNV | - | 2/10 |
17-63549488-A-G | AXIN2 | c.816-3710T>C | - | IntronicSNV | - | 2/10 |
10-104792400-A-T | CNNM2 | c.1622-17064A>T | - | IntronicSNV | - | 1/7 |
19-35747663-C-T | LSR | c.599-2185C>T | - | IntronicSNV | - | 2/8 |
10-104792400-A-G | CNNM2 | c.1622-17064A>G | - | IntronicSNV | - | 1/7 |
6-2167225-T-C | GMDS | c.12+8941A>G | - | IntronicSNV | - | 1/10 |
3-12358230-T-A | PPARG | c.-3+28711T>A | - | intron_variant | - | 1/6 |
3-141266493-G-A | RASA2 | c.528-6206G>A | - | IntronicSNV | - | 5/23 |
9-119688061-G-A | ASTN2 | c.1736+49426C>T | - | IntronicSNV | - | 9/21 |
11-69933717-T-C | ANO1 | c.109-141T>C | - | IntronicSNV | - | 1/25 |
12-110314312-G-A | GLTP | c.103+3765C>T | - | IntronicSNV | - | 1/4 |
19-18589943-C-T | ELL | c.136-6251G>A | - | IntronicSNV | - | 1/11 |
5-457261-C-A | EXOC3 | c.1164+140C>A | - | IntronicSNV | - | 5/12 |
3-183355405-A-G | KLHL24 | c.-125+1824A>G | - | intron_variant | - | 1/7 |
20-25517425-T-G | NINL | c.1-10202A>C | - | IntronicSNV | - | 1/23 |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
5-130613600-T-C | CDC42SE2 | c.-455+13741T>C | - | intron_variant | - | 1/5 |
10-113933886-A-G | GPAM | c.414-283T>C | - | IntronicSNV | - | 6/21 |
10-113933886-A-T | GPAM | c.414-283T>A | - | IntronicSNV | - | 6/21 |
17-1782952-A-G | RPA1 | c.1051A>G | p.Thr351Ala | Missense | 11/17 | - |
16-3796147-T-C | CREBBP | c.3837-792A>G | - | IntronicSNV | - | 21/30 |
2-33315750-G-C | LTBP1 | c.864-19899G>C | - | IntronicSNV | - | 3/33 |
11-108288808-G-T | C11orf65 | c.175-10932C>A | - | IntronicSNV | - | 3/8 |
4-89741269-G-C | FAM13A | c.29+2858C>G | - | IntronicSNV | - | 1/17 |
4-89741269-G-A | FAM13A | c.29+2858C>T | - | IntronicSNV | - | 1/17 |
16-10745099-G-T | TEKT5 | c.1087-15324C>A | - | IntronicSNV | - | 5/6 |
11-45936035-G-T | PEX16 | c.542-16C>A | - | IntronicSNV | - | 6/10 |
14-58737766-A-G | PSMA3 | c.723+50A>G | - | IntronicSNV | - | 10/10 |
12-9082581-A-G | PHC1 | c.613-450A>G | - | IntronicSNV | - | 6/14 |
22-46364161-G-A | WNT7B | c.71+8403C>T | - | IntronicSNV | - | 1/3 |
7-28205303-T-C | JAZF1 | c.115+14779A>G | - | IntronicSNV | - | 1/4 |
2-56096892-A-G | EFEMP1 | c.1320+963T>C | - | IntronicSNV | - | 11/11 |
10-5254847-A-G | AKR1C4 | c.681-110A>G | - | IntronicSNV | - | 6/8 |
17-19442036-A-T | SLC47A1 | c.136-3670A>T | - | IntronicSNV | - | 1/16 |
11-45873091-A-C | CRY2 | c.215+3835A>C | - | intron_variant | - | 1/11 |
12-28600244-C-T | CCDC91 | c.763-2850C>T | - | IntronicSNV | - | 8/12 |
11-45936035-G-A | PEX16 | c.542-16C>T | - | IntronicSNV | - | 6/10 |
14-58737766-A-C | PSMA3 | c.723+50A>C | - | IntronicSNV | - | 10/10 |
14-58737766-A-T | PSMA3 | c.723+50A>T | - | IntronicSNV | - | 10/10 |
3-85884150-A-G | CADM2 | c.217+32804A>G | - | IntronicSNV | - | 2/9 |
4-7055253-C-T | TADA2B | c.271-536C>T | - | IntronicSNV | - | 1/1 |
4-7055253-C-A | TADA2B | c.271-536C>A | - | IntronicSNV | - | 1/1 |
19-13024250-A-T | SYCE2 | c.131+4786T>A | - | IntronicSNV | - | 2/5 |
19-13024250-A-C | SYCE2 | c.131+4786T>G | - | IntronicSNV | - | 2/5 |
7-93197732-G-C | CALCR | c.-27+5869C>G | - | intron_variant | - | 2/13 |
2-121612659-G-A | GLI2 | c.148+57615G>A | - | IntronicSNV | - | 2/13 |
5-173363889-C-T | CPEB4 | c.1258+4386C>T | - | IntronicSNV | - | 3/9 |
5-1284135-C-T | TERT | c.1574-1396G>A | - | IntronicSNV | - | 2/14 |
22-38129332-G-A | TRIOBP | c.3975G>A | p.Gln1325Gln | Synonymous | 8/24 | - |
12-109095137-A-G | CORO1C | c.1-43T>C | - | IntronicSNV | - | 1/10 |
17-49244747-G-C | NME1-NME2 | c.471+430G>C | - | IntronicSNV | - | 5/7 |
10-93037409-A-G | PCGF5 | c.724-617A>G | - | IntronicSNV | - | 9/9 |
8-42405155-C-T | SMIM19 | c.259+1232C>T | - | IntronicSNV | - | 3/3 |
3-11646954-G-C | VGLL4 | c.65-3458C>G | - | IntronicSNV | - | 2/5 |
3-132163200-G-T | DNAJC13 | c.69-2119G>T | - | IntronicSNV | - | 2/55 |
12-2517887-G-A | CACNA1C | c.478-40255G>A | - | IntronicSNV | - | 3/46 |
22-33056859-C-T | SYN3 | c.709-64137G>A | - | IntronicSNV | - | 6/13 |
6-127452116-C-T | RSPO3 | c.97+11682C>T | - | IntronicSNV | - | 1/4 |
1-103473494-C-G | COL11A1 | c.1335+525G>C | - | IntronicSNV | - | 13/64 |
5-55001899-G-A | SLC38A9 | c.-35+5381C>T | - | intron_variant | - | 2/15 |
6-116312893-A-T | FRK | c.466+12147T>A | - | IntronicSNV | - | 2/7 |
16-53809247-G-C | FTO | c.46-34805G>C | - | IntronicSNV | - | 1/8 |
20-57472043-A-G | GNAS | c.212+1304A>G | - | IntronicSNV | - | 2/12 |
11-13355770-C-T | ARNTL | c.-135+7756C>T | - | intron_variant | - | 3/19 |
18-46270114-A-G | CTIF | c.585-14176A>G | - | IntronicSNV | - | 7/11 |
11-8913085-G-A | ST5 | c.-255-10429C>T | - | intron_variant | - | 1/22 |
7-95169514-G-A | ASB4 | c.*2443G>A | - | 3-UTRSNV | 5/5 | - |
15-99194896-C-G | IGF1R | c.94+1992C>G | - | IntronicSNV | - | 1/20 |
6-32412435-G-A | HLA-DRA | c.*18G>A | - | 3_prime_UTR_variant | 5/5 | - |
2-223917983-T-A | KCNE4 | c.588T>A | p.Asp196Glu | Missense | 2/2 | - |
2-223917983-T-G | KCNE4 | c.588T>G | p.Asp196Glu | Missense | 2/2 | - |
17-7578115-T-G | TP53 | c.672+62A>C | - | IntronicSNV | - | 6/10 |
22-33056341-T-C | SYN3 | c.709-63619A>G | - | IntronicSNV | - | 6/13 |
16-53803574-T-A | FTO | c.46-40478T>A | - | IntronicSNV | - | 1/8 |
3-133477701-T-G | TF | c.1049-318T>G | - | IntronicSNV | - | 8/16 |
1-46024454-G-A | AKR1A1 | c.1-3013G>A | - | IntronicSNV | - | 2/9 |
19-46018119-G-A | VASP | c.6-2802G>A | - | IntronicSNV | - | 1/12 |
1-103519589-G-A | COL11A1 | c.651+20585C>T | - | IntronicSNV | - | 4/64 |
1-66089782-C-T | LEPR | c.2673+1118C>T | - | IntronicSNV | - | 19/19 |
2-63149557-G-A | EHBP1 | c.1291-20296G>A | - | IntronicSNV | - | 11/24 |
6-7804377-T-A | BMP6 | c.665-40996T>A | - | IntronicSNV | - | 1/6 |
2-232982257-A-T | DIS3L2 | c.602-13072A>T | - | IntronicSNV | - | 6/20 |
12-66351826-T-C | HMGA2 | c.283-5199T>C | - | IntronicSNV | - | 4/4 |
14-96003198-G-A | GLRX5 | c.295+1477G>A | - | IntronicSNV | - | 1/1 |
17-64210580-A-C | APOH | c.973T>G | p.Cys325Gly | Missense | 7/8 | - |
6-16288192-G-A | GMPR | c.697+2126G>A | - | IntronicSNV | - | 7/8 |
6-16288192-G-C | GMPR | c.697+2126G>C | - | IntronicSNV | - | 7/8 |
1-47684677-T-C | TAL1 | c.*715A>G | - | 3-UTRSNV | 6/6 | - |
1-47684677-T-G | TAL1 | c.*715A>C | - | 3-UTRSNV | 6/6 | - |
1-2069172-C-T | PRKCZ | c.420+2386C>T | - | IntronicSNV | - | 5/17 |
13-41160270-T-C | FOXO1 | c.631-25273A>G | - | IntronicSNV | - | 1/2 |
18-19450303-A-G | MIB1 | c.*5676A>G | - | 3-UTRSNV | 21/21 | - |
2-86993770-A-G | RMND5A | c.854+623A>G | - | IntronicSNV | - | 6/8 |
5-170875097-A-C | FGF18 | c.251-1054A>C | - | IntronicSNV | - | 3/4 |
2-88924622-T-C | EIF2AK3 | c.308+1863A>G | - | IntronicSNV | - | 1/16 |
19-3428834-G-C | NFIC | c.634+3659G>C | - | IntronicSNV | - | 3/8 |
18-60845884-T-C | BCL2 | c.586-49892A>G | - | IntronicSNV | - | 2/2 |
6-30711805-C-G | IER3 | c.379G>C | p.Ala127Pro | Missense | 2/2 | - |
1-40039707-G-A | PABPC4 | c.194-1449C>T | - | IntronicSNV | - | 1/15 |
7-100083971-G-A | NYAP1 | c.69-473G>A | - | IntronicSNV | - | 2/6 |
6-152229850-G-A | ESR1 | c.760+27944G>A | - | IntronicSNV | - | 3/7 |
20-30306724-T-G | BCL2L1 | c.564+2734A>C | - | IntronicSNV | - | 2/2 |
20-30306724-T-C | BCL2L1 | c.564+2734A>G | - | IntronicSNV | - | 2/2 |
20-42673848-C-T | TOX2 | c.286-6098C>T | - | IntronicSNV | - | 3/8 |
2-219903723-C-T | CFAP65 | c.48G>A | p.Val16Val | Synonymous | 3/35 | - |
19-31047269-A-G | ZNF536 | c.3896-795A>G | - | IntronicSNV | - | 4/4 |
6-81038921-T-G | BCKDHB | c.1039-14460T>G | - | IntronicSNV | - | 9/10 |
17-57821430-G-A | VMP1 | c.414+5122G>A | - | IntronicSNV | - | 5/11 |
7-92244422-C-T | CDK6 | c.*32G>A | - | 3-UTRSNV | 8/8 | - |
19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
17-76121864-A-G | TMC6 | c.373T>C | p.Trp125Arg | Missense | 5/20 | - |
11-67207426-G-C | CORO1B | c.1008-112C>G | - | IntronicSNV | - | 8/10 |
2-53964506-A-G | GPR75-ASB3 | c.470-7799T>C | - | IntronicSNV | - | 3/9 |
15-67414911-T-G | SMAD3 | c.207-42322T>G | - | IntronicSNV | - | 1/8 |
15-100761190-T-C | ADAMTS17 | c.1076-21562A>G | - | IntronicSNV | - | 7/21 |
3-72437413-C-T | RYBP | c.129-8835G>A | - | IntronicSNV | - | 1/3 |
6-42932715-C-T | PEX6 | c.2667-48G>A | - | IntronicSNV | - | 15/16 |
4-1701317-G-A | SLBP | c.453C>T | p.Tyr151Tyr | Synonymous | 5/8 | - |
19-7224431-G-A | INSR | c.653-39783C>T | - | IntronicSNV | - | 2/21 |
3-114214611-C-A | ZBTB20 | c.-310+4588G>T | - | intron_variant | - | 6/9 |
20-45597546-T-C | EYA2 | c.1-21104T>C | - | IntronicSNV | - | 1/15 |
19-33899065-G-A | PEPD | c.818+3513C>T | - | IntronicSNV | - | 11/14 |
10-18707448-T-C | CACNB2 | c.168+16476T>C | - | IntronicSNV | - | 2/12 |
11-67207426-G-A | CORO1B | c.1008-112C>T | - | IntronicSNV | - | 8/10 |
9-95387983-C-T | IPPK | c.1171-6136G>A | - | IntronicSNV | - | 11/12 |
20-39672618-T-A | TOP1 | c.58+14523T>A | - | IntronicSNV | - | 2/20 |
1-74991644-A-G | FPGT-TNNI3K | c.2694-14274A>G | - | IntronicSNV | - | 25/26 |
1-77951330-A-T | AK5 | c.1103-663A>T | - | IntronicSNV | - | 9/13 |
7-150816225-T-C | AGAP3 | c.969+506T>C | - | IntronicSNV | - | 7/17 |
14-74223968-C-T | ELMSAN1 | c.-248+2498G>A | - | intron_variant | - | 1/11 |
7-23475919-G-A | IGF2BP3 | c.237-17476C>T | - | IntronicSNV | - | 2/14 |
14-74223968-C-A | ELMSAN1 | c.-248+2498G>T | - | intron_variant | - | 1/11 |
14-74223968-C-G | ELMSAN1 | c.-248+2498G>C | - | intron_variant | - | 1/11 |
3-169100886-T-C | MECOM | c.38-1574A>G | - | IntronicSNV | - | 1/16 |
2-43629612-A-G | THADA | c.4059-4334T>C | - | IntronicSNV | - | 28/37 |
10-46013277-A-C | MARCH8 | c.102+15281T>G | - | IntronicSNV | - | 2/6 |
12-117365506-G-A | FBXW8 | c.121-322G>A | - | IntronicSNV | - | 1/10 |
18-60054857-A-T | TNFRSF11A | c.*2865A>T | - | 3-UTRSNV | 9/9 | - |
4-83895232-A-G | LIN54 | c.809-3610T>C | - | IntronicSNV | - | 3/12 |
4-83895232-A-T | LIN54 | c.809-3610T>A | - | IntronicSNV | - | 3/12 |
11-12698040-A-G | TEAD1 | c.-55+932A>G | - | intron_variant | - | 2/12 |
22-31813058-A-T | DRG1 | c.413-3184A>T | - | IntronicSNV | - | 4/8 |
8-10683929-G-C | PINX1 | c.302-175C>G | - | IntronicSNV | - | 4/6 |
8-10683929-G-T | PINX1 | c.302-175C>A | - | IntronicSNV | - | 4/6 |
3-71256309-C-T | FOXP1 | c.1-8777G>A | - | IntronicSNV | - | 5/20 |
18-60054857-A-C | TNFRSF11A | c.*2865A>C | - | 3-UTRSNV | 9/9 | - |
15-89356832-G-T | ACAN | c.-8+9792G>T | - | intron_variant | - | 1/15 |
2-113965200-A-C | PSD4 | c.*6208A>C | - | IntergenicSNV | 17/17 | - |
6-35286295-G-T | DEF6 | c.1215+47G>T | - | IntronicSNV | - | 7/10 |
11-68830628-T-G | TPCN2 | c.653+170T>G | - | IntronicSNV | - | 6/24 |
15-76158983-G-A | UBE2Q2 | c.388-2309G>A | - | IntronicSNV | - | 3/12 |
7-116358044-A-T | MET | c.1201-13678A>T | - | IntronicSNV | - | 2/20 |
19-11202306-G-T | LDLR | c.67+2015G>T | - | IntronicSNV | - | 1/17 |
4-15603069-G-T | CC2D2A | c.*21G>T | - | 3-UTRSNV | 38/38 | - |
15-51748610-A-G | DMXL2 | c.8272-44T>C | - | IntronicSNV | - | 36/42 |
1-93009438-C-A | EVI5 | c.2118+19761G>T | - | IntronicSNV | - | 17/17 |
2-113965200-A-T | PSD4 | c.*6208A>T | - | IntergenicSNV | 17/17 | - |
13-109412704-A-G | MYO16 | c.442-25279A>G | - | IntronicSNV | - | 4/34 |
1-26450009-C-T | PDIK1L | c.*941C>T | - | 3-UTRSNV | 3/3 | - |
6-35286295-G-C | DEF6 | c.1215+47G>C | - | IntronicSNV | - | 7/10 |
15-66070693-C-A | DENND4A | c.-95+13655G>T | - | intron_variant | - | 1/31 |
15-66070693-C-T | DENND4A | c.-95+13655G>A | - | intron_variant | - | 1/31 |
7-116358044-A-G | MET | c.1201-13678A>G | - | IntronicSNV | - | 2/20 |
4-15603069-G-C | CC2D2A | c.*21G>C | - | 3-UTRSNV | 38/38 | - |
12-48736303-C-A | ZNF641 | c.*453G>T | - | 3-UTRSNV | 7/7 | - |
12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
2-86987987-G-A | RMND5A | c.522-4163G>A | - | IntronicSNV | - | 4/8 |
8-135653832-G-T | ZFAT | c.161-3877C>A | - | IntronicSNV | - | 3/16 |
8-135653832-G-A | ZFAT | c.161-3877C>T | - | IntronicSNV | - | 3/16 |
5-79836192-G-A | FAM151B | c.672-1300G>A | - | IntronicSNV | - | 5/5 |
17-7363088-T-A | ZBTB4 | c.*2171A>T | - | 3-UTRSNV | 4/4 | - |
17-7363088-T-C | ZBTB4 | c.*2171A>G | - | 3-UTRSNV | 4/4 | - |
17-38632761-C-A | TNS4 | c.*1079G>T | - | 3-UTRSNV | 13/13 | - |
17-38632761-C-G | TNS4 | c.*1079G>C | - | 3-UTRSNV | 13/13 | - |
12-122461566-G-A | BCL7A | c.92+1477G>A | - | IntronicSNV | - | 1/5 |
10-79611767-A-G | DLG5 | c.864+1345T>C | - | IntronicSNV | - | 5/31 |
10-79611767-A-C | DLG5 | c.864+1345T>G | - | IntronicSNV | - | 5/31 |
12-2523355-A-G | CACNA1C | c.478-34787A>G | - | IntronicSNV | - | 3/46 |
19-46202172-C-T | QPCTL | c.886+14C>T | - | IntronicSNV | - | 5/6 |
3-20105673-A-T | KAT2B | c.304-8152A>T | - | IntronicSNV | - | 1/17 |
13-115027462-T-A | CDC16 | c.1376+39T>A | - | IntronicSNV | - | 15/18 |
1-203800735-G-C | ZC3H11A | c.701-54G>C | - | IntronicSNV | - | 10/19 |
3-24347800-T-C | THRB | c.-43+30991A>G | - | intron_variant | - | 2/9 |
6-130349119-C-T | L3MBTL3 | c.-16+5669C>T | - | intron_variant | - | 2/22 |
16-67876823-A-G | THAP11 | c.366A>G | p.Gln122Gln | Synonymous | 1/1 | - |
10-104341435-T-C | SUFU | c.455-10904T>C | - | IntronicSNV | - | 3/11 |
18-46463136-A-T | SMAD7 | c.742+5715T>A | - | IntronicSNV | - | 3/3 |
12-65832468-T-G | MSRB3 | c.314-15040T>G | - | IntronicSNV | - | 4/5 |
10-22871123-G-T | PIP4K2A | c.493-8737C>A | - | IntronicSNV | - | 4/9 |
10-22871123-G-C | PIP4K2A | c.493-8737C>G | - | IntronicSNV | - | 4/9 |
15-53946593-A-C | WDR72 | c.1962+11176T>G | - | IntronicSNV | - | 14/19 |
11-47336320-A-T | MADD | c.3961-451A>T | - | IntronicSNV | - | 26/32 |
16-28944700-G-T | CD19 | c.705G>T | p.Pro235Pro | Synonymous | 4/15 | - |
16-28944700-G-A | CD19 | c.705G>A | p.Pro235Pro | Synonymous | 4/15 | - |
20-33718706-G-A | EDEM2 | c.844+739C>T | - | IntronicSNV | - | 7/10 |
8-8747894-A-T | MFHAS1 | c.2675T>A | p.Leu892His | Missense | 1/3 | - |
8-8747894-A-G | MFHAS1 | c.2675T>C | p.Leu892Pro | Missense | 1/3 | - |
8-8747894-A-C | MFHAS1 | c.2675T>G | p.Leu892Arg | Missense | 1/3 | - |
10-90756065-C-T | FAS | c.30+5402C>T | - | IntronicSNV | - | 1/8 |
13-96749461-G-A | HS6ST3 | c.707+5638G>A | - | IntronicSNV | - | 1/1 |
12-56680636-A-G | CS | c.43-207T>C | - | IntronicSNV | - | 1/10 |
2-232989831-T-G | DIS3L2 | c.602-5498T>G | - | IntronicSNV | - | 6/20 |
3-132411168-C-T | NPHP3 | c.2475+330G>A | - | IntronicSNV | - | 17/26 |
2-25187599-C-T | DNAJC27 | c.171-1256G>A | - | IntronicSNV | - | 2/6 |
5-67596088-G-C | PIK3R1 | c.*2659G>C | - | 3-UTRSNV | 10/10 | - |
20-39797465-T-C | PLCG1 | c.2438T>C | p.Ile813Thr | Missense | 21/32 | - |
5-67596088-G-A | PIK3R1 | c.*2659G>A | - | 3-UTRSNV | 10/10 | - |
11-120257495-A-G | ARHGEF12 | c.33-19332A>G | - | IntronicSNV | - | 1/40 |
17-11984232-G-C | MAP2K4 | c.252-441G>C | - | IntronicSNV | - | 3/11 |
2-169830155-G-A | ABCB11 | c.1434+70C>T | - | IntronicSNV | - | 13/27 |
15-48914926-A-G | FBN1 | c.165-9637T>C | - | IntronicSNV | - | 2/65 |
2-43748054-GGGA-GGGAGGGA | THADA | c.3374+6972_3374+6975dup | - | IntronicInsertion | - | 22/37 |
7-92248076-C-T | CDK6 | c.699-555G>A | - | IntronicSNV | - | 6/7 |
5-168250903-G-A | SLIT3 | c.558-567C>T | - | IntronicSNV | - | 6/35 |
3-170717521-T-A | SLC2A2 | c.1069-566A>T | - | IntronicSNV | - | 8/10 |
19-50078276-T-C | NOSIP | c.-2+5496A>G | - | intron_variant | - | 1/8 |
3-169186293-G-A | MECOM | c.38-86981C>T | - | IntronicSNV | - | 1/16 |
17-40852841-G-A | EZH1 | c.*1709C>T | - | 3-UTRSNV | 21/21 | - |
17-40852841-G-C | EZH1 | c.*1709C>G | - | 3-UTRSNV | 21/21 | - |
14-70365924-A-C | SMOC1 | c.99+19430A>C | - | IntronicSNV | - | 1/11 |
14-70365924-A-G | SMOC1 | c.99+19430A>G | - | IntronicSNV | - | 1/11 |
12-46249427-T-C | ARID2 | c.4773+2748T>C | - | IntronicSNV | - | 15/20 |
2-44907331-G-C | CAMKMT | c.377-24091G>C | - | IntronicSNV | - | 3/10 |
2-44907331-G-A | CAMKMT | c.377-24091G>A | - | IntronicSNV | - | 3/10 |
2-25463483-G-A | DNMT3A | c.2173+26C>T | - | IntronicSNV | - | 18/22 |
4-145659064-T-C | HHIP | c.2058T>C | p.Ile686Ile | Synonymous | 13/13 | - |
6-130345835-G-A | L3MBTL3 | c.-16+2385G>A | - | intron_variant | - | 2/22 |
3-38047954-G-C | VILL | c.2220G>C | p.Leu740Phe | Missense | 18/19 | - |
2-219557738-G-A | STK36 | c.2044-225G>A | - | IntronicSNV | - | 16/26 |
11-10040886-C-T | SBF2 | c.619+9113G>A | - | IntronicSNV | - | 6/39 |
3-41243742-T-G | CTNNB1 | c.-49+2581T>G | - | intron_variant | - | 1/15 |
16-68733646-G-C | CDH3 | c.*1343G>C | - | IntergenicSNV | 16/16 | - |
3-141150026-A-G | ZBTB38 | c.1-11205A>G | - | IntronicSNV | - | 7/7 |
11-2320884-A-G | C11orf21 | c.339T>C | p.Gly113Gly | Synonymous | 4/5 | - |
7-121000718-C-T | FAM3C | c.383-537G>A | - | IntronicSNV | - | 7/9 |
12-133105852-A-G | FBRSL1 | c.615+1278A>G | - | IntronicSNV | - | 4/16 |
1-172346548-G-A | DNM3 | c.1894-1610G>A | - | IntronicSNV | - | 17/20 |
12-112003695-T-G | ATXN2 | c.252-9972A>C | - | intron_variant | - | 1/24 |
4-145568352-T-C | HHIP | c.279+246T>C | - | IntronicSNV | - | 1/12 |
6-160668389-A-G | SLC22A2 | c.843-59T>C | - | IntronicSNV | - | 4/10 |
11-85432420-A-G | SYTL2 | c.5327-418T>C | - | intron_variant | - | 8/19 |
7-5234662-C-G | WIPI2 | c.128+1860C>G | - | IntronicSNV | - | 2/12 |
9-137301866-A-G | RXRA | c.610+901A>G | - | IntronicSNV | - | 4/9 |
17-5283252-A-G | RABEP1 | c.2272-407A>G | - | IntronicSNV | - | 15/17 |
1-172141403-A-T | DNM3 | c.1659+40975A>T | - | IntronicSNV | - | 14/20 |
11-16902268-C-T | PLEKHA7 | c.222-9539G>A | - | IntronicSNV | - | 3/22 |
9-113792706-C-A | LPAR1 | c.-182+7415G>T | - | intron_variant | - | 1/4 |
2-26357294-C-T | RAB10 | c.520-513C>T | - | IntronicSNV | - | 5/5 |
11-63862612-G-A | MACROD1 | c.517+56099C>T | - | IntronicSNV | - | 3/10 |
12-576984-C-T | B4GALNT3 | c.169+7273C>T | - | IntronicSNV | - | 1/19 |
22-38546033-T-A | PLA2G6 | c.210-4373A>T | - | IntronicSNV | - | 2/15 |
22-38546033-T-C | PLA2G6 | c.210-4373A>G | - | IntronicSNV | - | 2/15 |
1-154991389-T-C | DCST2 | c.2106-153A>G | - | IntronicSNV | - | 14/14 |
10-127673877-C-T | FANK1 | c.192-3243C>T | - | IntronicSNV | - | 2/10 |
20-10644158-A-G | JAG1 | c.439+453T>C | - | IntronicSNV | - | 3/25 |
15-84580582-A-C | ADAMTSL3 | c.1701-1262A>C | - | IntronicSNV | - | 15/29 |
12-123823546-A-G | SBNO1 | c.648+1989T>C | - | IntronicSNV | - | 5/31 |
1-26872832-G-A | RPS6KA1 | c.109-526G>A | - | IntronicSNV | - | 2/21 |
8-48885436-T-A | MCM4 | c.1948T>A | p.Leu650Met | Missense | 13/16 | - |
8-145037573-T-A | PLEC | c.193+11772A>T | - | IntronicSNV | - | 2/32 |
17-65870073-C-G | BPTF | c.1661-860C>G | - | IntronicSNV | - | 3/29 |
3-169100886-T-A | MECOM | c.38-1574A>T | - | IntronicSNV | - | 1/16 |
8-30373040-G-A | RBPMS | c.397+11087G>A | - | IntronicSNV | - | 5/8 |
11-108306236-C-A | C11orf65 | c.82-3671G>T | - | IntronicSNV | - | 2/8 |
3-141105570-A-G | ZBTB38 | c.-416-144A>G | - | intron_variant | - | 4/7 |
1-172355841-C-A | DNM3 | c.2059-432C>A | - | IntronicSNV | - | 18/20 |
6-16281187-C-T | GMPR | c.654+2066C>T | - | IntronicSNV | - | 6/8 |
6-34302869-A-G | RPS10-NUDT3 | c.567+6770T>C | - | IntronicSNV | - | 6/8 |
10-46013277-A-T | MARCH8 | c.102+15281T>A | - | IntronicSNV | - | 2/6 |
22-39121252-A-G | GTPBP1 | c.1074-759A>G | - | IntronicSNV | - | 6/11 |
1-2300557-G-A | MORN1 | c.745+3363C>T | - | IntronicSNV | - | 8/13 |
6-80956208-C-T | BCKDHB | c.952-26644C>T | - | IntronicSNV | - | 8/10 |
1-212237798-G-A | DTL | c.527-461G>A | - | IntronicSNV | - | 6/14 |
2-208003579-A-G | KLF7 | c.103-14451T>C | - | IntronicSNV | - | 1/3 |
3-171969077-C-G | FNDC3B | c.536C>G | p.Thr179Ser | Missense | 6/26 | - |
11-66826160-C-T | RHOD | c.132+1655C>T | - | IntronicSNV | - | 1/4 |
1-172352990-G-A | DNM3 | c.2059-3283G>A | - | IntronicSNV | - | 18/20 |
3-142233990-T-C | ATR | c.4503+247A>G | - | IntronicSNV | - | 25/46 |
3-142233990-T-A | ATR | c.4503+247A>T | - | IntronicSNV | - | 25/46 |
8-120596023-A-T | ENPP2 | c.1477T>A | p.Ser493Thr | Missense | 17/25 | - |
18-46959500-G-C | DYM | c.1-2736C>G | - | IntronicSNV | - | 1/16 |
17-45013271-T-C | GOSR2 | c.*625T>C | - | 3-UTRSNV | 5/5 | - |
18-46959500-G-T | DYM | c.1-2736C>A | - | IntronicSNV | - | 1/16 |
7-672509-G-A | PRKAR1B | c.441-25420C>T | - | IntronicSNV | - | 4/10 |
7-8086639-A-G | GLCCI1 | c.697-8424A>G | - | IntronicSNV | - | 3/7 |
16-81534790-T-A | CMIP | c.18+5691T>A | - | IntronicSNV | - | 1/20 |
3-66448307-A-G | LRIG1 | c.1304+229T>C | - | IntronicSNV | - | 11/18 |
19-52320115-G-C | FPR3 | c.1-6887G>C | - | IntronicSNV | - | 1/1 |
19-52320115-G-A | FPR3 | c.1-6887G>A | - | IntronicSNV | - | 1/1 |
7-8086639-A-T | GLCCI1 | c.697-8424A>T | - | IntronicSNV | - | 3/7 |
17-45425115-G-T | EFCAB13 | c.518-59G>T | - | IntronicSNV | - | 8/24 |
17-45425115-G-A | EFCAB13 | c.518-59G>A | - | IntronicSNV | - | 8/24 |
3-185824004-T-C | ETV5 | c.1-347A>G | - | IntronicSNV | - | 1/12 |
8-116637685-T-C | TRPS1 | c.1-1821A>G | - | IntronicSNV | - | 1/6 |
20-60990162-G-T | RBBP8NL | c.794+15C>A | - | IntronicSNV | - | 9/13 |
1-119503843-C-G | TBX15 | c.-114+28135G>C | - | intron_variant | - | 1/7 |
1-119503843-C-A | TBX15 | c.-114+28135G>T | - | intron_variant | - | 1/7 |
20-60990162-G-A | RBBP8NL | c.794+15C>T | - | IntronicSNV | - | 9/13 |
15-70364352-G-A | TLE3 | c.372+2520C>T | - | IntronicSNV | - | 6/19 |
2-56113538-G-A | EFEMP1 | c.518-4669C>T | - | IntronicSNV | - | 5/11 |
8-4827332-T-A | CSMD1 | c.85+24522A>T | - | IntronicSNV | - | 1/69 |
16-28333411-G-A | SBK1 | c.*1169G>A | - | 3-UTRSNV | 4/4 | - |
1-172355841-C-T | DNM3 | c.2059-432C>T | - | IntronicSNV | - | 18/20 |
11-128586155-C-A | FLI1 | c.18+21984C>A | - | IntronicSNV | - | 1/8 |
19-46177235-T-C | GIPR | c.385-97T>C | - | IntronicSNV | - | 5/13 |
10-95895940-A-G | PLCE1 | c.1492+3724A>G | - | IntronicSNV | - | 3/32 |
14-79899454-C-T | NRXN3 | c.248-34110C>T | - | IntronicSNV | - | 1/6 |
1-3684954-C-A | CCDC27 | c.1743+945C>A | - | IntronicSNV | - | 10/11 |
8-135637337-C-G | ZFAT | c.412+12367G>C | - | IntronicSNV | - | 4/16 |
14-37477461-A-T | SLC25A21 | c.71-133252T>A | - | IntronicSNV | - | 1/9 |
1-214627419-C-T | PTPN14 | c.175-2102G>A | - | IntronicSNV | - | 2/18 |
8-13273477-G-C | DLC1 | c.1024-14349C>G | - | IntronicSNV | - | 2/17 |
3-178740422-T-G | ZMAT3 | c.*2383A>C | - | 3-UTRSNV | 7/7 | - |
3-178740422-T-A | ZMAT3 | c.*2383A>T | - | 3-UTRSNV | 7/7 | - |
1-47693220-A-G | TAL1 | c.-2+1648T>C | - | intron_variant | - | 3/5 |
8-13273477-G-T | DLC1 | c.1024-14349C>A | - | IntronicSNV | - | 2/17 |
1-20916238-G-A | CDA | c.154+462G>A | - | IntronicSNV | - | 1/3 |
1-11881141-C-A | CLCN6 | c.346+1530C>A | - | IntronicSNV | - | 5/22 |
7-23502974-T-A | IGF2BP3 | c.236+5127A>T | - | IntronicSNV | - | 2/14 |
4-184215675-A-T | WWC2 | c.3384+4887A>T | - | IntronicSNV | - | 21/22 |
4-184215675-A-G | WWC2 | c.3384+4887A>G | - | IntronicSNV | - | 21/22 |
1-41556253-C-T | SCMH1 | c.716-15130G>A | - | IntronicSNV | - | 8/15 |
3-52540773-T-C | STAB1 | c.1896T>C | p.Gly632Gly | Synonymous | 18/69 | - |
4-87976055-G-C | AFF1 | c.1038+7309G>C | - | IntronicSNV | - | 3/19 |
1-151259043-C-T | ZNF687 | c.276C>T | p.Pro92Pro | Synonymous | 2/9 | - |
14-74990746-A-G | LTBP2 | c.2530+1081T>C | - | IntronicSNV | - | 15/35 |
22-32883282-A-G | FBXO7 | c.551-450A>G | - | IntronicSNV | - | 4/8 |
4-87976055-G-A | AFF1 | c.1038+7309G>A | - | IntronicSNV | - | 3/19 |
22-44340904-C-G | PNPLA3 | c.1217+229C>G | - | IntronicSNV | - | 8/8 |
17-73468434-G-A | TMEM94 | c.24+424G>A | - | IntronicSNV | - | 2/31 |
22-44340904-C-T | PNPLA3 | c.1217+229C>T | - | IntronicSNV | - | 8/8 |
6-26091179-C-G | HFE | c.187C>G | p.His63Asp | Missense | 2/6 | - |
19-35767866-T-C | USF2 | c.728-1735T>C | - | IntronicSNV | - | 7/9 |
1-79466799-C-T | ADGRL4 | c.172+3956G>A | - | IntronicSNV | - | 2/14 |
22-31813058-A-G | DRG1 | c.413-3184A>G | - | IntronicSNV | - | 4/8 |
17-2048713-C-T | SMG6 | c.633+27239G>A | - | IntronicSNV | - | 6/11 |
17-2048713-C-G | SMG6 | c.633+27239G>C | - | IntronicSNV | - | 6/11 |
11-65391317-G-A | PCNX3 | c.2512-83G>A | - | IntronicSNV | - | 12/34 |
3-48721040-A-G | NCKIPSD | c.172-595T>C | - | IntronicSNV | - | 1/12 |
9-2622278-G-A | VLDLR | c.82+7G>A | - | IntronicSNV | - | 1/18 |
4-41388425-G-C | LIMCH1 | c.96+25472G>C | - | IntronicSNV | - | 1/26 |
10-71099888-G-A | HK1 | c.64-3695G>A | - | IntronicSNV | - | 1/17 |
7-26397239-C-A | SNX10 | c.25-3356C>A | - | IntronicSNV | - | 2/6 |
11-18560317-G-T | UEVLD | c.1061-2301C>A | - | IntronicSNV | - | 9/10 |
14-55203126-G-C | SAMD4A | c.716-616G>C | - | IntronicSNV | - | 3/12 |
3-32533010-C-T | CMTM6 | c.315+192G>A | - | IntronicSNV | - | 2/3 |
3-132226100-A-G | DNAJC13 | c.5018A>G | p.Tyr1673Cys | Missense | 43/56 | - |
21-45080552-A-T | RRP1B | c.130+877A>T | - | IntronicSNV | - | 1/15 |
2-26928811-G-A | KCNK3 | c.283+12785G>A | - | IntronicSNV | - | 1/1 |
4-110865468-A-C | EGF | c.737+243A>C | - | IntronicSNV | - | 4/22 |
4-8608634-C-T | CPZ | c.1035+9C>T | - | IntronicSNV | - | 5/9 |
17-56709034-G-A | TEX14 | c.137-1119C>T | - | IntronicSNV | - | 2/32 |
12-121416650-A-C | HNF1A | c.79A>C | p.Ile27Leu | Missense | 1/10 | - |
10-97805074-G-A | CCNJ | c.69+855G>A | - | IntronicSNV | - | 2/5 |
10-126358073-G-A | FAM53B | c.906+12103C>T | - | IntronicSNV | - | 4/4 |
5-32772043-A-G | NPR3 | c.1060-2771A>G | - | IntronicSNV | - | 3/7 |
3-169113110-C-A | MECOM | c.38-13798G>T | - | IntronicSNV | - | 1/16 |
4-145574844-A-G | HHIP | c.472+895A>G | - | IntronicSNV | - | 2/12 |
4-110865468-A-G | EGF | c.737+243A>G | - | IntronicSNV | - | 4/22 |
22-30378703-C-T | MTMR3 | c.210+3662C>T | - | IntronicSNV | - | 5/19 |
11-100593538-G-C | ARHGAP42 | c.154+34975G>C | - | IntronicSNV | - | 1/23 |
17-57821430-G-T | VMP1 | c.414+5122G>T | - | IntronicSNV | - | 5/11 |
6-31380529-A-G | MICA | c.*321A>G | - | IntronicSNV | - | 5/5 |
13-29239630-T-C | POMP | c.162+924T>C | - | IntronicSNV | - | 3/5 |
6-31380529-A-T | MICA | c.*321A>T | - | IntronicSNV | - | 5/5 |
8-23173053-A-G | LOXL2 | c.1636+1409T>C | - | IntronicSNV | - | 9/13 |
19-17283303-T-C | MYO9B | c.1935+16T>C | - | IntronicSNV | - | 12/39 |
8-23173053-A-T | LOXL2 | c.1636+1409T>A | - | IntronicSNV | - | 9/13 |
16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
8-21779937-C-G | XPO7 | c.18+2638C>G | - | IntronicSNV | - | 1/27 |
15-44720011-C-T | CTDSPL2 | c.-25+41C>T | - | intron_variant | - | 1/12 |
17-43216281-C-T | ACBD4 | c.650-107C>T | - | IntronicSNV | - | 7/8 |
17-56709034-G-C | TEX14 | c.137-1119C>G | - | IntronicSNV | - | 2/32 |
1-158586966-A-T | SPTA1 | c.6600+361T>A | - | IntronicSNV | - | 47/51 |
1-78512566-T-A | GIPC2 | c.240+548T>A | - | IntronicSNV | - | 1/5 |
6-31106459-C-A | PSORS1C1 | c.70C>A | p.Pro24Thr | Missense | 5/6 | - |
7-2795957-A-G | GNA12 | c.526-22822T>C | - | IntronicSNV | - | 2/3 |
6-31106459-C-T | PSORS1C1 | c.70C>T | p.Pro24Ser | Missense | 5/6 | - |
1-203655121-A-G | ATP2B4 | c.193+2595A>G | - | IntronicSNV | - | 2/21 |
15-76158983-G-T | UBE2Q2 | c.388-2309G>T | - | IntronicSNV | - | 3/12 |
1-203655121-A-T | ATP2B4 | c.193+2595A>T | - | IntronicSNV | - | 2/21 |
12-14520701-A-G | ATF7IP | c.-8+1940A>G | - | intron_variant | - | 1/14 |
14-21545251-A-G | ARHGEF40 | c.1-1293A>G | - | IntronicSNV | 3/24 | - |
5-173363667-G-T | CPEB4 | c.1258+4164G>T | - | IntronicSNV | - | 3/9 |
10-121129797-G-T | GRK5 | c.149-10530G>T | - | IntronicSNV | - | 2/15 |
10-121129797-G-A | GRK5 | c.149-10530G>A | - | IntronicSNV | - | 2/15 |
1-119574587-C-T | WARS2 | c.*947G>A | - | 3-UTRSNV | 6/6 | - |
6-108977663-T-C | FOXO3 | c.622-6995T>C | - | IntronicSNV | - | 1/2 |
1-77967507-T-A | AK5 | c.1147+15470T>A | - | IntronicSNV | - | 10/13 |
2-233087483-T-G | DIS3L2 | c.1204+12368T>G | - | IntronicSNV | - | 10/20 |
6-2050791-A-C | GMDS | c.255+65214T>G | - | IntronicSNV | - | 4/10 |
3-50129399-C-T | RBM5 | c.18-77C>T | - | IntronicSNV | - | 2/24 |
15-76293971-A-G | NRG4 | c.104+7570T>C | - | IntronicSNV | - | 3/5 |
2-211540489-C-A | CPS1 | c.4217C>A | p.Ala1406Asp | Missense | 37/39 | - |
20-34432670-A-T | PHF20 | c.255+2004A>T | - | IntronicSNV | - | 3/17 |
8-41630405-G-A | ANK1 | c.28-14750C>T | - | IntronicSNV | - | 1/41 |
22-37462936-A-G | TMPRSS6 | c.2207T>C | p.Val736Ala | Missense | 17/18 | - |
9-139341612-T-C | SEC16A | c.6697+67A>G | - | IntronicSNV | - | 27/31 |
1-248039451-C-T | TRIM58 | c.1121C>T | p.Thr374Met | Missense | 6/6 | - |
16-30103160-C-A | TBX6 | c.-49+34G>T | - | intron_variant | - | 1/8 |
16-170328-C-T | NPRL3 | c.1-7698G>A | - | IntronicSNV | - | 2/11 |
10-46009818-C-A | MARCH8 | c.102+18740G>T | - | IntronicSNV | - | 2/6 |
12-122494809-T-C | BCL7A | c.561+1977T>C | - | IntronicSNV | - | 5/5 |
6-7232389-C-T | RREB1 | c.3808+249C>T | - | IntronicSNV | - | 10/11 |
17-56436109-C-T | RNF43 | c.1028G>A | p.Arg343His | Missense | 9/10 | - |
20-34432670-A-G | PHF20 | c.255+2004A>G | - | IntronicSNV | - | 3/17 |
19-19591066-A-G | GATAD2A | c.270-12049A>G | - | IntronicSNV | - | 2/11 |
12-2522981-A-G | CACNA1C | c.478-35161A>G | - | IntronicSNV | - | 3/46 |
4-18010384-A-G | LCORL | c.154+12837T>C | - | IntronicSNV | - | 1/6 |
2-98333290-T-C | ZAP70 | c.-22+2833T>C | - | intron_variant | - | 2/13 |
1-79466799-C-A | ADGRL4 | c.172+3956G>T | - | IntronicSNV | - | 2/14 |
3-52532118-A-T | STAB1 | c.78+2611A>T | - | IntronicSNV | - | 1/68 |
2-42462930-A-G | EML4 | c.26-9715A>G | - | IntronicSNV | - | 1/22 |
20-47772264-A-G | STAU1 | c.206-1656T>C | - | IntronicSNV | - | 3/13 |
2-233087483-T-C | DIS3L2 | c.1204+12368T>C | - | IntronicSNV | - | 10/20 |
2-164567689-T-C | FIGN | c.25+23724A>G | - | IntronicSNV | - | 2/2 |
4-123835656-C-A | NUDT6 | c.443-1878G>T | - | IntronicSNV | - | 2/4 |
9-16455833-G-C | BNC2 | c.667-18311C>G | - | intron_variant | - | 4/5 |
9-16455833-G-A | BNC2 | c.667-18311C>T | - | intron_variant | - | 4/5 |
5-72201058-G-A | TNPO1 | c.2590-72G>A | - | IntronicSNV | - | 23/24 |
2-219154781-G-A | TMBIM1 | c.-41+2408C>T | - | intron_variant | - | 1/11 |
22-43114551-G-A | A4GALT | c.-188+2252C>T | - | intron_variant | - | 1/2 |
19-2136102-T-C | AP3D1 | c.354+908A>G | - | IntronicSNV | - | 4/31 |
8-116495909-T-A | TRPS1 | c.2701-65229A>T | - | IntronicSNV | - | 5/6 |
1-53309097-A-G | ZYG11A | c.90+452A>G | - | IntronicSNV | - | 1/13 |
11-8899528-A-G | ST5 | c.-156+3029T>C | - | intron_variant | - | 2/22 |
14-37708019-T-A | MIPOL1 | c.1-9075T>A | - | IntronicSNV | - | 1/13 |
17-42294337-A-C | UBTF | c.59-265T>G | - | IntronicSNV | - | 2/20 |
11-8673939-C-G | TRIM66 | c.1-584G>C | - | IntronicSNV | - | 1/19 |
2-26357748-G-T | RAB10 | c.520-59G>T | - | IntronicSNV | - | 5/5 |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
18-43831259-A-G | C18orf25 | c.899-2404A>G | - | IntronicSNV | - | 3/4 |
10-52762887-T-C | PRKG1 | c.266+11483T>C | - | IntronicSNV | - | 1/17 |
18-60845884-T-A | BCL2 | c.586-49892A>T | - | IntronicSNV | - | 2/2 |
19-47569003-G-A | ZC3H4 | c.*610C>T | - | 3-UTRSNV | 15/15 | - |
2-241818527-A-G | AGXT | c.*289A>G | - | 3-UTRSNV | 11/11 | - |
7-151406005-C-T | PRKAG2 | c.467-33282G>A | - | IntronicSNV | - | 3/15 |
1-170649277-C-T | PRRX1 | c.241+15677C>T | - | IntronicSNV | - | 1/4 |
9-119129257-T-C | PAPPA | c.4496-667T>C | - | IntronicSNV | - | 18/21 |
3-47061183-G-A | SETD2 | c.7431+67C>T | - | IntronicSNV | - | 19/20 |
3-47061183-G-C | SETD2 | c.7431+67C>G | - | IntronicSNV | - | 19/20 |
3-24211250-C-G | THRB | c.284-17269G>C | - | IntronicSNV | - | 4/9 |
15-100513158-C-T | ADAMTS17 | c.*1449G>A | - | 3-UTRSNV | 22/22 | - |
1-46432105-A-G | MAST2 | c.592+6956A>G | - | IntronicSNV | - | 5/28 |
1-203650945-C-G | ATP2B4 | c.1-1389C>G | - | IntronicSNV | - | 1/21 |
2-54966407-A-G | EML6 | c.197+14012A>G | - | IntronicSNV | - | 1/40 |
14-21890683-C-G | CHD8 | c.879+3604G>C | - | IntronicSNV | - | 5/37 |
12-15332342-G-C | RERG | c.61+38021C>G | - | IntronicSNV | - | 2/4 |
2-9662210-G-T | ADAM17 | c.844-765C>A | - | IntronicSNV | - | 7/18 |
1-170649277-C-A | PRRX1 | c.241+15677C>A | - | IntronicSNV | - | 1/4 |
9-119129257-T-A | PAPPA | c.4496-667T>A | - | IntronicSNV | - | 18/21 |
9-119129257-T-G | PAPPA | c.4496-667T>G | - | IntronicSNV | - | 18/21 |
5-90151589-G-A | ADGRV1 | c.17626G>A | p.Val5876Ile | Missense | 82/90 | - |
6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
11-64031798-G-C | PLCB3 | c.2652+214G>C | - | IntronicSNV | - | 22/30 |
3-53134098-T-C | RFT1 | c.1103-596A>G | - | IntronicSNV | - | 10/12 |
20-44570192-C-T | PCIF1 | c.673+346C>T | - | IntronicSNV | - | 7/16 |
15-91437388-A-T | FES | c.2326+100A>T | - | IntronicSNV | - | 18/18 |
6-7213016-G-A | RREB1 | c.707+1074G>A | - | IntronicSNV | - | 8/11 |
15-41796498-T-A | LTK | c.1956+42A>T | - | IntronicSNV | - | 17/17 |
11-13357183-G-A | ARNTL | c.-135+9169G>A | - | intron_variant | - | 3/19 |
15-91437388-A-C | FES | c.2326+100A>C | - | IntronicSNV | - | 18/18 |
2-33315750-G-T | LTBP1 | c.864-19899G>T | - | IntronicSNV | - | 3/33 |
1-220973563-C-T | MARC1 | c.753+2207C>T | - | IntronicSNV | - | 4/6 |
9-129460914-A-G | LMX1B | c.*2184A>G | - | 3-UTRSNV | 8/8 | - |
9-129460914-A-T | LMX1B | c.*2184A>T | - | 3-UTRSNV | 8/8 | - |
13-78474468-A-C | EDNRB | c.1085+188T>G | - | IntronicSNV | - | 6/7 |
1-46073489-G-A | NASP | c.906G>A | p.Pro302Pro | Synonymous | 6/15 | - |
10-126752234-T-A | CTBP2 | c.1-24611A>T | - | IntronicSNV | - | 1/10 |
11-47650993-C-T | MTCH2 | c.540-395G>A | - | IntronicSNV | - | 8/12 |
17-38632761-C-T | TNS4 | c.*1079G>A | - | 3-UTRSNV | 13/13 | - |
16-4445327-C-T | CORO7-PAM16 | c.578G>A | p.Arg193Gln | Missense | 7/31 | - |
12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
3-170727218-G-A | SLC2A2 | c.496+529C>T | - | IntronicSNV | - | 4/10 |
1-21583311-T-C | ECE1 | c.829-680A>G | - | IntronicSNV | - | 7/18 |
16-75328308-T-C | CFDP1 | c.810-368A>G | - | IntronicSNV | - | 6/6 |
13-28015542-G-C | MTIF3 | c.1-957C>G | - | IntronicSNV | - | 1/4 |
4-56399648-T-C | CLOCK | c.-290+13301A>G | - | intron_variant | - | 1/22 |
9-99161512-C-G | ZNF367 | c.421-916G>C | - | IntronicSNV | - | 1/4 |
5-133898136-C-G | JADE2 | c.852+79C>G | - | IntronicSNV | - | 7/10 |
20-30387992-G-T | TPX2 | c.2134-781G>T | - | IntronicSNV | - | 17/17 |
7-12276522-G-A | TMEM106B | c.*4921G>A | - | 3-UTRSNV | 9/9 | - |
17-47390014-G-C | ZNF652 | c.1048+46C>G | - | IntronicSNV | - | 3/5 |
6-116451442-A-G | NT5DC1 | c.529+12334A>G | - | IntronicSNV | - | 6/11 |
2-118579085-A-G | DDX18 | c.651-141A>G | - | IntronicSNV | - | 4/13 |
16-88777242-C-A | CTU2 | c.282+552C>A | - | IntronicSNV | - | 4/13 |
1-85988158-C-T | DDAH1 | c.-122-26194G>A | - | intron_variant | - | 1/6 |
14-65487694-T-C | CHURC1-FNTB | c.236+5260T>C | - | IntronicSNV | - | 5/12 |
5-133898136-C-T | JADE2 | c.852+79C>T | - | IntronicSNV | - | 7/10 |
16-2488211-T-G | CCNF | c.594+87T>G | - | IntronicSNV | - | 6/16 |
16-2488211-T-C | CCNF | c.594+87T>C | - | IntronicSNV | - | 6/16 |
5-42436916-A-C | GHR | c.-12+12859A>C | - | intron_variant | - | 1/9 |
5-42436916-A-G | GHR | c.-12+12859A>G | - | intron_variant | - | 1/9 |
2-63053048-G-A | EHBP1 | c.313-174G>A | - | IntronicSNV | - | 5/24 |
5-118729286-C-T | TNFAIP8 | c.*210C>T | - | 3-UTRSNV | 2/2 | - |
1-23840570-T-C | E2F2 | c.1045+2257A>G | - | IntronicSNV | - | 6/6 |
7-12276522-G-T | TMEM106B | c.*4921G>T | - | 3-UTRSNV | 9/9 | - |
17-47390014-G-A | ZNF652 | c.1048+46C>T | - | IntronicSNV | - | 3/5 |
9-4844265-T-C | RCL1 | c.711-260T>C | - | IntronicSNV | - | 6/8 |
6-131327956-G-A | EPB41L2 | c.1-50331C>T | - | IntronicSNV | - | 1/14 |
6-131327956-G-T | EPB41L2 | c.1-50331C>A | - | IntronicSNV | - | 1/14 |
4-123835656-C-T | NUDT6 | c.443-1878G>A | - | IntronicSNV | - | 2/4 |
2-219349752-C-T | USP37 | c.1670+635G>A | - | IntronicSNV | - | 16/25 |
18-74983055-A-G | GALR1 | c.*2197A>G | - | IntergenicSNV | 3/3 | - |
12-123822711-G-A | SBNO1 | c.649-1673C>T | - | IntronicSNV | - | 5/31 |
7-1058193-G-A | C7orf50 | c.130-8414C>T | - | IntronicSNV | - | 2/4 |
5-37046626-A-T | NIPBL | c.6589+325A>T | - | IntronicSNV | - | 38/45 |
1-11278813-G-C | MTOR | c.3031-2522C>G | - | IntronicSNV | - | 19/57 |
10-124171857-T-C | PLEKHA1 | c.343-579T>C | - | IntronicSNV | - | 5/11 |
13-73567191-G-A | PIBF1 | c.2050-5769G>A | - | IntronicSNV | - | 16/17 |
2-114653871-A-T | ACTR3 | c.44+5971A>T | - | IntronicSNV | - | 1/11 |
19-3434028-A-C | NFIC | c.710-247A>C | - | IntronicSNV | - | 4/8 |
3-85807590-T-G | CADM2 | c.67+31892T>G | - | IntronicSNV | - | 1/9 |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
19-3434028-A-T | NFIC | c.710-247A>T | - | IntronicSNV | - | 4/8 |
19-3428834-G-A | NFIC | c.634+3659G>A | - | IntronicSNV | - | 3/8 |
14-75626131-T-C | TMED10 | c.226-7285A>G | - | IntronicSNV | - | 1/4 |
2-20151819-G-C | WDR35 | c.1401-574C>G | - | IntronicSNV | - | 12/26 |
9-18629792-G-A | ADAMTSL1 | c.602-6149G>A | - | IntronicSNV | - | 5/28 |
15-89395626-A-G | ACAN | c.2266+362A>G | - | IntronicSNV | - | 11/15 |
12-53778650-G-T | SP1 | c.1531+1244G>T | - | IntronicSNV | - | 3/5 |
11-2810731-C-T | KCNQ1 | c.1794+11464C>T | - | IntronicSNV | - | 15/15 |
1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
10-45966422-G-A | MARCH8 | c.154-6647C>T | - | IntronicSNV | - | 3/6 |
7-15721178-C-A | MEOX2 | c.517+4333G>T | - | IntronicSNV | - | 1/2 |
16-89875710-A-C | FANCA | c.523-935T>G | - | IntronicSNV | - | 5/42 |
17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
8-141876287-C-G | PTK2 | c.429-1789G>C | - | IntronicSNV | - | 4/31 |
21-38072356-G-C | SIM2 | c.175+135G>C | - | IntronicSNV | - | 1/9 |
5-54955071-T-A | SLC38A9 | c.698-2469A>T | - | IntronicSNV | - | 8/15 |
16-4021734-A-G | ADCY9 | c.2870+2936T>C | - | IntronicSNV | - | 10/10 |
17-73368985-A-G | GRB2 | c.78+20647T>C | - | IntronicSNV | - | 2/5 |
7-151413194-T-C | PRKAG2 | c.467-40471A>G | - | IntronicSNV | - | 3/15 |
19-44248878-A-G | SMG9 | c.701+46T>C | - | IntronicSNV | - | 6/13 |
20-35544673-A-G | SAMHD1 | c.1062+452T>C | - | IntronicSNV | - | 9/15 |
7-15721178-C-T | MEOX2 | c.517+4333G>A | - | IntronicSNV | - | 1/2 |
14-56111707-G-A | KTN1 | c.2173-1984G>A | - | IntronicSNV | - | 18/43 |
16-81589983-A-T | CMIP | c.19-51189A>T | - | IntronicSNV | - | 1/20 |
1-205041952-C-G | CNTN2 | c.2844+229C>G | - | IntronicSNV | - | 21/22 |
1-205041952-C-T | CNTN2 | c.2844+229C>T | - | IntronicSNV | - | 21/22 |
5-127696022-A-C | FBN2 | c.2554+1394T>G | - | IntronicSNV | - | 19/64 |
17-59456589-C-T | BCAS3 | c.2593+10734C>T | - | IntronicSNV | - | 23/23 |
6-122811850-T-C | PKIB | c.-248+8439T>C | - | intron_variant | - | 3/7 |
20-32304653-C-G | PXMP4 | c.114-2111G>C | - | IntronicSNV | - | 1/3 |
7-17919258-G-T | SNX13 | c.441-3845C>A | - | IntronicSNV | - | 5/25 |
7-17919258-G-A | SNX13 | c.441-3845C>T | - | IntronicSNV | - | 5/25 |
7-6449272-A-G | DAGLB | c.*196T>C | - | 3-UTRSNV | 15/15 | - |
1-155178782-A-T | MTX1 | c.187A>T | p.Thr63Ser | Missense | 1/7 | - |
4-145919657-T-A | ANAPC10 | c.328-2902A>T | - | IntronicSNV | - | 4/4 |
3-61236462-C-T | FHIT | c.-213+513G>A | - | intron_variant | - | 1/9 |
6-126216403-C-G | NCOA7 | c.2096+4447C>G | - | IntronicSNV | - | 11/16 |
3-24348008-T-C | THRB | c.-43+30783A>G | - | intron_variant | - | 2/9 |
10-126752234-T-C | CTBP2 | c.1-24611A>G | - | IntronicSNV | - | 1/10 |
2-208003579-A-T | KLF7 | c.103-14451T>A | - | IntronicSNV | - | 1/3 |
7-1083777-A-G | C7orf50 | c.130-33998T>C | - | IntronicSNV | - | 2/4 |
12-13046211-C-T | GPRC5A | c.-8+1613C>T | - | intron_variant | - | 1/3 |
12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
1-158604143-G-A | SPTA1 | c.5565+190C>T | - | IntronicSNV | - | 39/51 |
1-118492052-T-C | WDR3 | c.1525-322T>C | - | IntronicSNV | - | 13/26 |
15-89388905-C-T | ACAN | c.1221C>T | p.Val407Val | Synonymous | 7/16 | - |
6-2096081-T-C | GMDS | c.255+19924A>G | - | IntronicSNV | - | 4/10 |
1-229738236-G-A | TAF5L | c.678C>T | p.Pro226Pro | Synonymous | 4/5 | - |
12-124440110-C-T | CCDC92 | c.1-11258G>A | - | IntronicSNV | - | 1/4 |
6-117868051-T-C | DCBLD1 | c.1615+1291T>C | - | IntronicSNV | - | 14/14 |
12-124440110-C-A | CCDC92 | c.1-11258G>T | - | IntronicSNV | - | 1/4 |
3-52532118-A-G | STAB1 | c.78+2611A>G | - | IntronicSNV | - | 1/68 |
7-2801803-C-T | GNA12 | c.526-28668G>A | - | IntronicSNV | - | 2/3 |
9-35808334-C-G | NPR2 | c.2713-172C>G | - | IntronicSNV | - | 18/21 |
9-35808334-C-A | NPR2 | c.2713-172C>A | - | IntronicSNV | - | 18/21 |
16-2336394-T-C | ABCA3 | c.3278+301A>G | - | IntronicSNV | - | 22/32 |
14-103878774-C-G | MARK3 | c.243+7170C>G | - | IntronicSNV | - | 2/17 |
13-72347696-A-C | DACH1 | c.855-91654T>G | - | IntronicSNV | - | 1/6 |
19-7184762-A-G | INSR | c.653-114T>C | - | IntronicSNV | - | 2/21 |
11-18632984-T-C | SPTY2D1 | c.1964+40A>G | - | IntronicSNV | - | 5/5 |
1-43415346-G-A | SLC2A1 | c.19-6354C>T | - | IntronicSNV | - | 1/9 |
2-62357544-C-G | COMMD1 | c.463-5422C>G | - | IntronicSNV | - | 2/2 |
1-43415346-G-T | SLC2A1 | c.19-6354C>A | - | IntronicSNV | - | 1/9 |
6-111529453-A-T | SLC16A10 | c.1086+1515A>T | - | IntronicSNV | - | 4/5 |
17-57825572-A-C | VMP1 | c.414+9264A>C | - | IntronicSNV | - | 5/11 |
3-133467377-T-A | TF | c.165T>A | p.Ser55Arg | Missense | 2/17 | - |
15-100759614-C-T | ADAMTS17 | c.1076-19986G>A | - | IntronicSNV | - | 7/21 |
15-100759614-C-A | ADAMTS17 | c.1076-19986G>T | - | IntronicSNV | - | 7/21 |
16-31129895-A-G | KAT8 | c.211+682A>G | - | IntronicSNV | - | 1/10 |
5-168256240-G-A | SLIT3 | c.558-5904C>T | - | IntronicSNV | - | 6/35 |
2-62357544-C-A | COMMD1 | c.463-5422C>A | - | IntronicSNV | - | 2/2 |
1-176794066-G-A | PAPPA2 | c.5203-15243G>A | - | IntronicSNV | - | 21/22 |
2-165548569-G-A | COBLL1 | c.3414+162C>T | - | IntronicSNV | - | 13/13 |
3-72455355-C-T | RYBP | c.129-26777G>A | - | IntronicSNV | - | 1/3 |
3-72455355-C-A | RYBP | c.129-26777G>T | - | IntronicSNV | - | 1/3 |
7-20381674-G-A | ITGB8 | c.127+10118G>A | - | IntronicSNV | - | 1/13 |
2-232989831-T-C | DIS3L2 | c.602-5498T>C | - | IntronicSNV | - | 6/20 |
2-121995638-G-C | TFCP2L1 | c.861-212C>G | - | IntronicSNV | - | 8/14 |
15-75116167-C-T | LMAN1L | c.1323+144C>T | - | IntronicSNV | - | 12/13 |
11-2320013-C-T | C11orf21 | c.*673G>A | - | IntronicSNV | - | 4/4 |
9-140100317-C-G | NDOR1 | c.88C>G | p.Arg30Gly | Missense | 1/14 | - |
19-41204070-G-A | COQ8B | c.1143+1902C>T | - | IntronicSNV | - | 12/14 |
1-218609702-A-G | TGFB2 | c.932+213A>G | - | IntronicSNV | - | 5/6 |
1-218609702-A-T | TGFB2 | c.932+213A>T | - | IntronicSNV | - | 5/6 |
6-152345162-G-A | ESR1 | c.1235+12233G>A | - | IntronicSNV | - | 5/7 |
10-69937192-A-G | MYPN | c.2703+1974A>G | - | IntronicSNV | - | 12/19 |
10-69937192-A-C | MYPN | c.2703+1974A>C | - | IntronicSNV | - | 12/19 |
13-113875080-C-T | CUL4A | c.68+1718C>T | - | IntronicSNV | - | 3/19 |
6-131353680-T-C | EPB41L2 | c.-15+30615A>G | - | intron_variant | - | 1/14 |
12-53645885-T-C | MFSD5 | c.-186T>C | - | 5_prime_UTR_variant | 1/2 | - |
17-65870073-C-T | BPTF | c.1661-860C>T | - | IntronicSNV | - | 3/29 |
7-5234662-C-T | WIPI2 | c.128+1860C>T | - | IntronicSNV | - | 2/12 |
5-32789852-T-C | NPR3 | c.*3401T>C | - | 3-UTRSNV | 8/8 | - |
12-90060586-G-A | ATP2B1 | c.1-10923C>T | - | IntergenicSNV | - | 1/20 |
1-203655121-A-C | ATP2B4 | c.193+2595A>C | - | IntronicSNV | - | 2/21 |
17-61845425-T-A | CCDC47 | c.1-1890A>T | - | IntronicSNV | - | 1/12 |
17-61845425-T-C | CCDC47 | c.1-1890A>G | - | IntronicSNV | - | 1/12 |
4-144442611-T-C | SMARCA5 | c.282T>C | p.Tyr94Tyr | Synonymous | 3/24 | - |
4-144442611-T-A | SMARCA5 | c.282T>A | p.Tyr94* | Nonsense | 3/24 | - |
11-47294626-T-C | MADD | c.1-840T>C | - | IntronicSNV | - | 1/32 |
19-4119012-A-G | MAP2K2 | c.93-1385T>C | - | IntronicSNV | - | 1/10 |
4-103188709-C-T | SLC39A8 | c.1171G>A | p.Ala391Thr | Missense | 7/8 | - |
4-103188709-C-A | SLC39A8 | c.1171G>T | p.Ala391Ser | Missense | 7/8 | - |
18-46463136-A-G | SMAD7 | c.742+5715T>C | - | IntronicSNV | - | 3/3 |
5-53298025-G-A | ARL15 | c.462+111007C>T | - | IntronicSNV | - | 4/4 |
2-46360907-G-C | PRKCE | c.1593-11325G>C | - | IntronicSNV | - | 11/14 |
2-174815898-A-C | SP3 | c.1639+3703T>G | - | IntronicSNV | - | 4/6 |
11-31424823-T-C | DNAJC24 | c.112-11535T>C | - | IntronicSNV | - | 2/4 |
16-69887707-C-G | WWP2 | c.575+11684C>G | - | IntronicSNV | - | 7/24 |
15-100761190-T-A | ADAMTS17 | c.1076-21562A>T | - | IntronicSNV | - | 7/21 |
3-142120786-C-T | XRN1 | c.2104-1397G>A | - | IntronicSNV | - | 18/41 |
2-207999713-G-A | KLF7 | c.103-10585C>T | - | IntronicSNV | - | 1/3 |
1-79466799-C-G | ADGRL4 | c.172+3956G>C | - | IntronicSNV | - | 2/14 |
10-114758349-C-T | TCF7L2 | c.382-41435C>T | - | IntronicSNV | - | 3/13 |
15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
4-88044336-G-A | AFF1 | c.2446-1853G>A | - | IntronicSNV | - | 11/19 |
10-114758349-C-G | TCF7L2 | c.382-41435C>G | - | IntronicSNV | - | 3/13 |
17-36929578-C-T | PIP4K2B | c.808-2053G>A | - | IntronicSNV | - | 7/9 |
8-30279453-A-G | RBPMS | c.66+36779A>G | - | IntronicSNV | - | 1/8 |
10-95895177-G-C | PLCE1 | c.1492+2961G>C | - | IntronicSNV | - | 3/32 |
2-135837906-C-A | RAB3GAP1 | c.151-10662C>A | - | IntronicSNV | - | 3/23 |
7-28189946-A-G | JAZF1 | c.115+30136T>C | - | IntronicSNV | - | 1/4 |
2-241818527-A-C | AGXT | c.*289A>C | - | 3-UTRSNV | 11/11 | - |
10-95895177-G-A | PLCE1 | c.1492+2961G>A | - | IntronicSNV | - | 3/32 |
17-64302652-G-A | PRKCA | c.205+407G>A | - | IntronicSNV | - | 2/16 |
19-16241886-G-A | RAB8A | c.532-1136G>A | - | IntronicSNV | - | 7/7 |
3-69811900-C-T | MITF | c.104+23048C>T | - | IntronicSNV | - | 1/9 |
9-15305378-G-C | TTC39B | c.240+1704C>G | - | IntronicSNV | - | 1/19 |
7-5268516-C-G | WIPI2 | c.1121+674C>G | - | IntronicSNV | - | 11/12 |
7-5268516-C-A | WIPI2 | c.1121+674C>A | - | IntronicSNV | - | 11/12 |
10-104939215-T-C | NT5C2 | c.-25+1773A>G | - | intron_variant | - | 2/18 |
20-30387992-G-C | TPX2 | c.2134-781G>C | - | IntronicSNV | - | 17/17 |
20-43516156-G-A | YWHAB | c.-98-133G>A | - | intron_variant | - | 1/6 |
10-124171857-T-A | PLEKHA1 | c.343-579T>A | - | IntronicSNV | - | 5/11 |
9-78759705-T-A | PCSK5 | c.1312+10577T>A | - | IntronicSNV | - | 10/36 |
2-242262986-G-A | SEPT2 | c.1-662G>A | - | IntronicSNV | - | 1/12 |
18-13094132-G-A | CEP192 | c.6255-1370G>A | - | IntronicSNV | - | 34/44 |
11-43864278-T-C | HSD17B12 | c.684+2664T>C | - | IntronicSNV | - | 9/10 |
11-8862530-G-A | ST5 | c.-155-1633C>T | - | intron_variant | - | 2/22 |
16-163598-G-A | NPRL3 | c.1-968C>T | - | IntronicSNV | - | 2/11 |
16-67384226-A-G | LRRC36 | c.577+33A>G | - | IntronicSNV | - | 5/13 |
16-67384226-A-T | LRRC36 | c.577+33A>T | - | IntronicSNV | - | 5/13 |
16-20880040-A-T | DCUN1D3 | c.1-6180T>A | - | IntronicSNV | - | 1/2 |
2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
16-20880040-A-G | DCUN1D3 | c.1-6180T>C | - | IntronicSNV | - | 1/2 |
3-114697457-C-G | ZBTB20 | c.-561-4194G>C | - | intron_variant | - | 1/9 |
9-136131188-C-T | ABO | c.927G>A | - | synonymous_variant | 8/8 | - |
4-17936634-T-C | LCORL | c.431-25666A>G | - | IntronicSNV | - | 4/6 |
13-32963707-C-T | BRCA2 | c.9257-5119C>T | - | IntronicSNV | - | 24/26 |
1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
18-46657358-C-T | DYM | c.1564-12062G>A | - | IntronicSNV | - | 14/16 |
4-145592686-G-A | HHIP | c.831+11696G>A | - | IntronicSNV | - | 4/12 |
17-47875333-G-A | KAT7 | c.341-348G>A | - | IntronicSNV | - | 3/14 |
12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
16-81534790-T-C | CMIP | c.18+5691T>C | - | IntronicSNV | - | 1/20 |
16-3627358-C-T | NLRC3 | c.-377G>A | - | 5_prime_UTR_variant | 1/21 | - |
12-15332342-G-A | RERG | c.61+38021C>T | - | IntronicSNV | - | 2/4 |
11-92708710-C-G | MTNR1B | c.223+5596C>G | - | IntronicSNV | - | 1/1 |
2-25483121-G-A | DNMT3A | c.640-12000C>T | - | IntronicSNV | - | 6/22 |
3-133476769-C-T | TF | c.1027C>T | p.Arg343Trp | Missense | 8/17 | - |
11-10178437-T-C | SBF2 | c.141+37012A>G | - | IntronicSNV | - | 2/39 |
9-4849647-T-C | RCL1 | c.971+97T>C | - | IntronicSNV | - | 8/8 |
12-349298-C-T | SLC6A13 | c.479-2122G>A | - | IntronicSNV | - | 4/14 |
1-120264823-C-G | PHGDH | c.290+879C>G | - | IntronicSNV | - | 2/11 |
11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
8-135612595-A-G | ZFAT | c.2439+84T>C | - | IntronicSNV | - | 8/16 |
9-123381222-C-T | MEGF9 | c.943+3672G>A | - | IntronicSNV | - | 3/5 |
14-102907653-C-T | TECPR2 | c.2752+707C>T | - | IntronicSNV | - | 11/19 |
11-57004344-G-T | APLNR | c.135C>A | p.Gly45Gly | Synonymous | 1/1 | - |
6-31616366-G-A | BAG6 | c.552+88C>T | - | IntronicSNV | - | 6/24 |
15-42683787-G-A | CAPN3 | c.946-1050G>A | - | IntronicSNV | - | 6/23 |
18-672035-C-T | TYMS | c.804+584C>T | - | IntronicSNV | - | 6/6 |
17-8161149-C-T | PFAS | c.1100C>T | p.Pro367Leu | Missense | 10/28 | - |
20-36989096-G-A | LBP | c.589-262G>A | - | IntronicSNV | - | 5/14 |
19-47596131-T-C | ZC3H4 | c.492+1096A>G | - | IntronicSNV | - | 4/14 |
9-98266370-A-G | PTCH1 | c.394+2319T>C | - | IntronicSNV | - | 2/23 |
9-98266370-A-C | PTCH1 | c.394+2319T>G | - | IntronicSNV | - | 2/23 |
1-203654085-G-A | ATP2B4 | c.193+1559G>A | - | IntronicSNV | - | 2/21 |
15-76298744-A-G | NRG4 | c.104+2797T>C | - | IntronicSNV | - | 3/5 |
10-28478492-C-A | MPP7 | c.156+12590G>T | - | IntronicSNV | - | 5/18 |
6-16294722-C-G | GMPR | c.858-515C>G | - | IntronicSNV | - | 8/8 |
7-69784313-A-T | AUTS2 | c.661-116425A>T | - | IntronicSNV | - | 4/17 |
11-65351364-G-A | EHBP1L1 | c.3093+128G>A | - | IntronicSNV | - | 9/18 |
9-131042734-T-G | SWI5 | c.426+3700T>G | - | IntronicSNV | - | 2/4 |
20-45558831-A-G | EYA2 | c.-11+35205A>G | - | intron_variant | - | 1/15 |
4-88030261-G-T | AFF1 | c.1512+794G>T | - | IntronicSNV | - | 10/19 |
7-120777619-G-A | CPED1 | c.1699+1475G>A | - | IntronicSNV | - | 14/22 |
4-87973668-C-T | AFF1 | c.1038+4922C>T | - | IntronicSNV | - | 3/19 |
17-62007498-A-G | CD79B | c.366T>C | p.Cys122Cys | Synonymous | 3/6 | - |
6-152157881-C-T | ESR1 | c.453-5851C>T | - | IntronicSNV | - | 1/7 |
12-57146069-T-G | PRIM1 | c.14A>C | p.Asp5Ala | Missense | 1/13 | - |
9-136929586-C-T | BRD3 | c.-114+3481G>A | - | intron_variant | - | 1/11 |
15-75332485-A-G | PPCDC | c.136-3297A>G | - | IntronicSNV | - | 2/5 |
15-75332485-A-T | PPCDC | c.136-3297A>T | - | IntronicSNV | - | 2/5 |
6-109783941-A-G | ZBTB24 | c.*3113T>C | - | 3-UTRSNV | 7/7 | - |
3-52833805-C-A | ITIH3 | c.943C>A | p.Gln315Lys | Missense | 9/22 | - |
11-57069056-A-G | TNKS1BP1 | c.4971+225T>C | - | IntronicSNV | - | 9/11 |
1-161485259-G-T | FCGR2A | c.777+1537G>T | - | IntronicSNV | - | 6/6 |
1-243618317-G-T | SDCCAG8 | c.1985+28457G>T | - | IntronicSNV | - | 16/17 |
22-28181399-C-A | MN1 | c.3781+11352G>T | - | IntronicSNV | - | 1/1 |
2-219949184-C-T | NHEJ1 | c.589-6256G>A | - | IntronicSNV | - | 5/7 |
8-8863059-C-T | ERI1 | c.108+2378C>T | - | IntronicSNV | - | 1/6 |
2-136608646-G-A | MCM6 | c.1917+326C>T | - | IntronicSNV | - | 13/16 |
2-136608646-G-C | MCM6 | c.1917+326C>G | - | IntronicSNV | - | 13/16 |
17-67081278-A-G | ABCA6 | c.4075T>C | p.Cys1359Arg | Missense | 32/39 | - |
16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
1-46432105-A-C | MAST2 | c.592+6956A>C | - | IntronicSNV | - | 5/28 |
3-52506426-C-T | NISCH | c.669+12C>T | - | IntronicSNV | - | 6/20 |
13-113853035-A-G | PCID2 | c.127-457T>C | - | IntronicSNV | - | 2/14 |
3-136107549-G-A | STAG1 | c.2277+10042C>T | - | IntronicSNV | - | 22/33 |
10-45972119-A-C | MARCH8 | c.154-12344T>G | - | IntronicSNV | - | 3/6 |
11-17351683-C-G | NUCB2 | c.1012C>G | p.Gln338Glu | Missense | 12/14 | - |
1-15845197-G-A | CASP9 | c.1-424C>T | - | IntronicSNV | - | 1/8 |
22-35711098-A-G | TOM1 | c.53-2772A>G | - | IntronicSNV | - | 1/14 |
1-15845197-G-C | CASP9 | c.1-424C>G | - | IntronicSNV | - | 1/8 |
3-185488882-G-A | IGF2BP2 | c.239+52059C>T | - | IntronicSNV | - | 2/15 |
4-122751061-G-A | BBS7 | c.1677-1178C>T | - | IntronicSNV | - | 15/17 |
3-169121931-A-T | MECOM | c.38-22619T>A | - | IntronicSNV | - | 1/16 |
7-27223771-C-T | HOXA11 | c.709+284G>A | - | IntronicSNV | - | 1/1 |
8-131442851-T-C | ASAP1 | c.-28+12855A>G | - | intron_variant | - | 1/29 |
11-73009084-G-A | P2RY6 | c.*534G>A | - | 3-UTRSNV | 3/3 | - |
20-21180259-C-T | KIZ | c.1353-5871C>T | - | IntronicSNV | - | 6/13 |
7-50427982-G-A | IKZF1 | c.161-16249G>A | - | intron_variant | - | 3/7 |
15-72842705-G-A | ARIH1 | c.589-4907G>A | - | IntronicSNV | - | 3/13 |
6-7792947-T-C | BMP6 | c.665-52426T>C | - | IntronicSNV | - | 1/6 |
2-23901362-A-G | KLHL29 | c.941-5907A>G | - | IntronicSNV | - | 5/13 |
2-23901362-A-C | KLHL29 | c.941-5907A>C | - | IntronicSNV | - | 5/13 |
16-67213923-C-T | KIAA0895L | c.570+21G>A | - | IntronicSNV | - | 2/6 |
7-99817196-G-T | PVRIG | c.1-338G>T | - | IntronicSNV | - | 1/5 |
2-232322779-G-A | NCL | c.1289+198C>T | - | IntronicSNV | - | 8/13 |
9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
19-41922352-A-G | BCKDHA | c.484+2290A>G | - | IntronicSNV | - | 4/8 |
15-75321262-T-C | PPCDC | c.135+468T>C | - | IntronicSNV | - | 2/5 |
7-99817196-G-A | PVRIG | c.1-338G>A | - | IntronicSNV | - | 1/5 |
2-136187345-C-T | ZRANB3 | c.162-38955G>A | - | IntronicSNV | - | 2/20 |
5-179731014-T-C | GFPT2 | c.1842+758A>G | - | IntronicSNV | - | 17/18 |
16-3192651-T-C | ZNF213 | c.*1303T>C | - | 3-UTRSNV | 6/6 | - |
17-45811354-C-G | TBX21 | c.491+43C>G | - | IntronicSNV | - | 1/5 |
3-51192126-G-C | DOCK3 | c.829-4549G>C | - | IntronicSNV | - | 10/52 |
3-51192126-G-A | DOCK3 | c.829-4549G>A | - | IntronicSNV | - | 10/52 |
6-50803050-A-G | TFAP2B | c.602-724A>G | - | IntronicSNV | - | 3/6 |
2-27730940-T-C | GCKR | c.1337T>C | p.Leu446Pro | Missense | 15/19 | - |
9-98256235-T-G | PTCH1 | c.395-8079A>C | - | IntronicSNV | - | 2/23 |
12-52466182-C-T | ATG101 | c.1-1253C>T | - | IntronicSNV | - | 2/3 |
1-75002193-G-A | FPGT-TNNI3K | c.2694-3725G>A | - | IntronicSNV | - | 25/26 |
1-218615451-A-C | TGFB2 | c.*747A>C | - | 3-UTRSNV | 7/7 | - |
11-61569830-C-T | FADS1 | c.*53G>A | - | 3-UTRSNV | 12/12 | - |
12-107174646-A-C | RIC8B | c.85-3129A>C | - | IntronicSNV | - | 1/8 |
8-25298710-G-A | KCTD9 | c.215-521C>T | - | IntronicSNV | - | 3/11 |
9-118921327-G-T | PAPPA | c.415+4461G>T | - | IntronicSNV | - | 1/21 |
17-68090207-C-A | KCNJ16 | c.-275-6592C>A | - | intron_variant | - | 1/4 |
2-21225281-C-T | APOB | c.13013G>A | p.Ser4338Asn | Missense | 29/29 | - |
9-118921327-G-C | PAPPA | c.415+4461G>C | - | IntronicSNV | - | 1/21 |
10-17204944-T-C | TRDMT1 | c.252-708A>G | - | IntronicSNV | - | 3/10 |
12-133105852-A-T | FBRSL1 | c.615+1278A>T | - | IntronicSNV | - | 4/16 |
3-77667044-G-A | ROBO2 | c.3602+120G>A | - | IntronicSNV | - | 23/26 |
17-78615571-G-A | RPTOR | c.266-1957G>A | - | IntronicSNV | - | 2/33 |
15-67446831-G-A | SMAD3 | c.207-10402G>A | - | IntronicSNV | - | 1/8 |
1-19763396-C-T | CAPZB | c.4-17152G>A | - | IntronicSNV | - | 1/9 |
18-77222862-T-G | NFATC1 | c.1959+1496T>G | - | IntronicSNV | - | 7/7 |
14-102904179-G-C | TECPR2 | c.2395-180G>C | - | IntronicSNV | - | 9/19 |
14-102904179-G-T | TECPR2 | c.2395-180G>T | - | IntronicSNV | - | 9/19 |
14-102904179-G-A | TECPR2 | c.2395-180G>A | - | IntronicSNV | - | 9/19 |
17-40466092-G-A | STAT3 | c.*1671C>T | - | 3-UTRSNV | 24/24 | - |
15-74226765-G-C | LOXL1 | c.1102+6539G>C | - | IntronicSNV | - | 1/6 |
5-77505876-C-T | AP3B1 | c.639+6003G>A | - | IntronicSNV | - | 7/26 |
4-79700562-C-T | BMP2K | c.178+2687C>T | - | IntronicSNV | - | 1/13 |
2-9662210-G-A | ADAM17 | c.844-765C>T | - | IntronicSNV | - | 7/18 |
12-104344836-A-G | C12orf73 | c.*465T>C | - | 3-UTRSNV | 3/3 | - |
1-2996602-T-C | PRDM16 | c.37+10742T>C | - | IntronicSNV | - | 1/16 |
8-116599199-T-C | TRPS1 | c.2700+29A>G | - | IntronicSNV | - | 5/6 |
8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
3-119560606-T-A | GSK3B | c.1195+1496A>T | - | IntronicSNV | - | 10/10 |
3-119560606-T-C | GSK3B | c.1195+1496A>G | - | IntronicSNV | - | 10/10 |
9-33827694-C-T | UBE2R2 | c.177+9762C>T | - | IntronicSNV | - | 1/4 |
4-89713121-C-T | FAM13A | c.72-1343G>A | - | IntronicSNV | - | 2/17 |
4-128568966-C-T | INTU | c.682+3755C>T | - | IntronicSNV | - | 2/15 |
17-47402807-C-T | ZNF652 | c.1-7720G>A | - | IntronicSNV | - | 1/5 |
8-27527995-C-T | SCARA3 | c.1370-422C>T | - | IntronicSNV | - | 5/5 |
7-151411494-G-A | PRKAG2 | c.467-38771C>T | - | IntronicSNV | - | 3/15 |
7-151411494-G-T | PRKAG2 | c.467-38771C>A | - | IntronicSNV | - | 3/15 |
10-124088725-C-T | BTBD16 | c.912-270C>T | - | IntronicSNV | - | 10/15 |
17-45377577-G-T | ITGB3 | c.1914-267G>T | - | IntronicSNV | - | 11/14 |
20-30433352-C-T | FOXS1 | c.1-7G>A | - | 5-UTRSNV | 1/1 | - |
7-44808223-G-A | ZMIZ2 | c.*1001G>A | - | 3-UTRSNV | 19/19 | - |
11-17316029-C-T | NUCB2 | c.1-842C>T | - | IntronicSNV | - | 2/13 |
18-50818827-C-T | DCC | c.1912-13121C>T | - | IntronicSNV | - | 12/28 |
20-45558831-A-C | EYA2 | c.-11+35205A>C | - | intron_variant | - | 1/15 |
8-21791772-C-T | XPO7 | c.18+14473C>T | - | IntronicSNV | - | 1/27 |
16-82184201-A-C | MPHOSPH6 | c.255+828T>G | - | IntronicSNV | - | 3/4 |
16-67801391-A-G | RANBP10 | c.400+4546T>C | - | IntronicSNV | - | 3/13 |
16-67801391-A-C | RANBP10 | c.400+4546T>G | - | IntronicSNV | - | 3/13 |
3-172165727-C-T | GHSR | c.477G>A | p.Arg159Arg | Synonymous | 1/1 | - |
14-79936964-T-C | NRXN3 | c.429+3219T>C | - | IntronicSNV | - | 2/6 |
3-11646954-G-T | VGLL4 | c.65-3458C>A | - | IntronicSNV | - | 2/5 |
3-11646954-G-A | VGLL4 | c.65-3458C>T | - | IntronicSNV | - | 2/5 |
1-26758773-G-A | DHDDS | c.-150G>A | - | 5_prime_UTR_variant | 1/9 | - |
15-100687967-A-G | ADAMTS17 | c.1473+4850T>C | - | IntronicSNV | - | 10/21 |
15-100687967-A-C | ADAMTS17 | c.1473+4850T>G | - | IntronicSNV | - | 10/21 |
19-44141015-T-C | CADM4 | c.64+2864A>G | - | IntronicSNV | - | 1/8 |
18-23627138-G-T | SS18 | c.607+5450C>A | - | IntronicSNV | - | 5/10 |
18-23627138-G-A | SS18 | c.607+5450C>T | - | IntronicSNV | - | 5/10 |
18-23627138-G-C | SS18 | c.607+5450C>G | - | IntronicSNV | - | 5/10 |
19-18454825-A-G | PGPEP1 | c.87+1104A>G | - | IntronicSNV | - | 2/4 |
7-128410012-G-A | CALU | c.*791G>A | - | 3-UTRSNV | 7/7 | - |
2-234679384-C-T | UGT1A1 | c.1305-1524C>T | - | IntronicSNV | - | 4/4 |
1-86330770-C-T | COL24A1 | c.3300+3432G>A | - | IntronicSNV | - | 37/59 |
6-26091179-C-T | HFE | c.187C>T | p.His63Tyr | Missense | 2/6 | - |
14-63423687-G-A | KCNH5 | c.943-6410C>T | - | IntronicSNV | - | 6/10 |
9-139089717-T-G | LHX3 | c.791-128A>C | - | IntronicSNV | - | 5/5 |
11-12924265-G-A | TEAD1 | c.873+605G>A | - | IntronicSNV | - | 10/12 |
5-64674446-C-T | ADAMTS6 | c.1074-44534G>A | - | IntronicSNV | - | 7/24 |
9-136149150-C-T | ABO | c.28+1428G>A | - | IntronicSNV | - | 1/7 |
15-84266145-G-T | SH3GL3 | c.838+8622G>T | - | IntronicSNV | - | 8/8 |
1-93009438-C-G | EVI5 | c.2118+19761G>C | - | IntronicSNV | - | 17/17 |
15-84266145-G-A | SH3GL3 | c.838+8622G>A | - | IntronicSNV | - | 8/8 |
9-15634326-T-C | CCDC171 | c.822+10915T>C | - | IntronicSNV | - | 7/25 |
3-20105673-A-G | KAT2B | c.304-8152A>G | - | IntronicSNV | - | 1/17 |
7-44579180-G-C | NPC1L1 | c.816C>G | p.Leu272Leu | Synonymous | 2/20 | - |
22-43115576-T-C | A4GALT | c.-188+1227A>G | - | intron_variant | - | 1/2 |
7-44579180-G-A | NPC1L1 | c.816C>T | p.Leu272Leu | Synonymous | 2/20 | - |
15-89851580-G-A | FANCI | c.3471+677G>A | - | IntronicSNV | - | 33/36 |
16-377367-A-G | AXIN1 | c.879-12684T>C | - | IntronicSNV | - | 2/10 |
2-9662210-G-C | ADAM17 | c.844-765C>G | - | IntronicSNV | - | 7/18 |
20-43042364-C-T | HNF4A | c.416C>T | p.Thr139Ile | Missense | 4/10 | - |
6-160668389-A-T | SLC22A2 | c.843-59T>A | - | IntronicSNV | - | 4/10 |
2-145231349-A-G | ZEB2 | c.73+43496T>C | - | IntronicSNV | - | 2/9 |
19-50028163-A-T | FCGRT | c.871+130A>T | - | IntronicSNV | - | 5/6 |
19-50028163-A-G | FCGRT | c.871+130A>G | - | IntronicSNV | - | 5/6 |
15-66997087-A-G | SMAD6 | c.817+674A>G | - | IntronicSNV | - | 1/3 |
16-67087407-T-C | CBFB | c.283-13178T>C | - | IntronicSNV | - | 3/5 |
4-9938969-T-C | SLC2A9 | c.727+4568A>G | - | IntronicSNV | - | 7/12 |
3-12368233-A-T | PPARG | c.-3+38714A>T | - | intron_variant | - | 1/6 |
15-72118777-G-C | MYO9A | c.*144C>G | - | 3-UTRSNV | 42/42 | - |
11-100593538-G-A | ARHGAP42 | c.154+34975G>A | - | IntronicSNV | - | 1/23 |
14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
1-37962756-A-C | MEAF6 | c.534-419T>G | - | IntronicSNV | - | 5/7 |
20-20068635-C-G | CFAP61 | c.567-2853C>G | - | IntronicSNV | - | 6/26 |
15-76740219-C-G | SCAPER | c.3079-13568G>C | - | IntronicSNV | - | 25/31 |
7-75163169-A-G | HIP1 | c.*4324T>C | - | 3-UTRSNV | 31/31 | - |
11-83276168-A-T | DLG2 | c.1626-23267T>A | - | IntronicSNV | - | 14/22 |
11-83276168-A-G | DLG2 | c.1626-23267T>C | - | IntronicSNV | - | 14/22 |
11-100610546-T-C | ARHGAP42 | c.155-30528T>C | - | IntronicSNV | - | 1/23 |
19-50100295-A-G | PRR12 | c.2703A>G | p.Pro901Pro | Synonymous | 4/14 | - |
3-58381287-G-A | PXK | c.721-98G>A | - | IntronicSNV | - | 8/17 |
6-2050791-A-G | GMDS | c.255+65214T>C | - | IntronicSNV | - | 4/10 |
2-62286552-A-G | COMMD1 | c.462+58435A>G | - | IntronicSNV | - | 2/2 |
17-62007498-A-T | CD79B | c.366T>A | p.Cys122* | Nonsense | 3/6 | - |
5-176576293-C-T | NSD1 | c.120+13262C>T | - | IntronicSNV | - | 3/23 |
17-66875294-C-G | ABCA8 | c.3919-1474G>C | - | IntronicSNV | - | 30/37 |
5-176576293-C-G | NSD1 | c.120+13262C>G | - | IntronicSNV | - | 3/23 |
19-11347493-T-C | DOCK6 | c.2136A>G | p.Thr712Thr | Synonymous | 19/48 | - |
18-60920854-C-T | BCL2 | c.585+64461G>A | - | IntronicSNV | - | 2/2 |
12-10568525-A-G | KLRC3 | c.588-132T>C | - | IntronicSNV | - | 5/6 |
3-49649873-A-G | BSN | c.225-12535A>G | - | IntronicSNV | - | 1/11 |
3-58013573-C-T | FLNB | c.292+18990C>T | - | IntronicSNV | - | 1/45 |
6-90739331-C-A | BACH2 | c.1-20768G>T | - | IntronicSNV | - | 3/8 |
2-100756009-T-C | AFF3 | c.-145+2937A>G | - | intron_variant | - | 1/23 |
4-77410318-C-A | SHROOM3 | c.168+52945C>A | - | IntronicSNV | - | 1/10 |
1-26741544-A-G | LIN28A | c.228+3471A>G | - | IntronicSNV | - | 2/3 |
5-1286516-C-A | TERT | c.1574-3777G>T | - | IntronicSNV | - | 2/14 |
10-80940740-A-T | ZMIZ1 | c.-50+18850A>T | - | intron_variant | - | 4/24 |
17-76393413-G-A | PGS1 | c.412-920G>A | - | IntronicSNV | - | 3/9 |
2-242191410-C-G | HDLBP | c.1372+962G>C | - | IntronicSNV | - | 11/27 |
12-122781897-G-C | CLIP1 | c.3562-8809C>G | - | IntronicSNV | - | 19/24 |
12-122781897-G-A | CLIP1 | c.3562-8809C>T | - | IntronicSNV | - | 19/24 |
17-76393413-G-C | PGS1 | c.412-920G>C | - | IntronicSNV | - | 3/9 |
2-190441317-A-G | SLC40A1 | c.112-1271T>C | - | IntronicSNV | - | 2/7 |
12-51158262-C-T | ATF1 | c.-7+172C>T | - | intron_variant | - | 1/6 |
11-16902268-C-A | PLEKHA7 | c.222-9539G>T | - | IntronicSNV | - | 3/22 |
16-375782-C-T | AXIN1 | c.879-11099G>A | - | IntronicSNV | - | 2/10 |
9-133464084-A-G | FUBP3 | c.85-6786A>G | - | IntronicSNV | - | 1/18 |
10-65317045-G-C | REEP3 | c.33-9053G>C | - | IntronicSNV | - | 1/7 |
7-98775453-C-T | KPNA7 | c.1464+90G>A | - | IntronicSNV | - | 9/9 |
20-8604181-C-T | PLCB1 | c.247-4760C>T | - | IntronicSNV | - | 3/31 |
11-10180991-A-G | SBF2 | c.141+34458T>C | - | IntronicSNV | - | 2/39 |
10-104846178-T-C | CNNM2 | c.*9241T>C | - | IntergenicSNV | 8/8 | - |
22-46364161-G-C | WNT7B | c.71+8403C>G | - | IntronicSNV | - | 1/3 |
14-105758964-C-T | BRF1 | c.185-6251G>A | - | IntronicSNV | - | 1/17 |
1-49589847-A-G | AGBL4 | c.378-78375T>C | - | IntronicSNV | - | 4/13 |
15-44324183-44324184---ACTGGTACTAAA | FRMD5 | c.103-107688_103-107677dup | - | intron_variant | - | 1/13 |
1-53581972-C-G | SLC1A7 | c.216-1327G>C | - | IntronicSNV | - | 2/10 |
12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
10-65317045-G-T | REEP3 | c.33-9053G>T | - | IntronicSNV | - | 1/7 |
2-163167746-C-G | IFIH1 | c.454-303G>C | - | IntronicSNV | - | 1/15 |
17-68090207-C-T | KCNJ16 | c.-275-6592C>T | - | intron_variant | - | 1/4 |
10-28478492-C-T | MPP7 | c.156+12590G>A | - | IntronicSNV | - | 5/18 |
19-47572987-T-C | ZC3H4 | c.2147-387A>G | - | IntronicSNV | - | 13/14 |
3-24350811-A-G | THRB | c.-43+27980T>C | - | intron_variant | - | 2/9 |
17-66303352-G-A | ARSG | c.1-283G>A | - | 5-UTRSNV | 2/12 | - |
16-68733646-G-A | CDH3 | c.*1343G>A | - | IntergenicSNV | 16/16 | - |
11-48098280-G-A | PTPRJ | c.97-33330G>A | - | IntronicSNV | - | 1/8 |
16-15129940-C-T | PDXDC1 | c.2175C>T | p.His725His | Synonymous | 23/23 | - |
16-15129940-C-A | PDXDC1 | c.2175C>A | p.His725Gln | Missense | 23/23 | - |
1-172241251-C-T | DNM3 | c.1769+18429C>T | - | IntronicSNV | - | 15/20 |
3-142120786-C-G | XRN1 | c.2104-1397G>C | - | IntronicSNV | - | 18/41 |
2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
5-39397132-T-A | DAB2 | c.1-2710A>T | - | IntronicSNV | - | 1/14 |
14-64703593-G-T | ESR2 | c.1226-1725C>A | - | IntronicSNV | - | 7/8 |
10-70196580-T-C | DNA2 | c.1646+188A>G | - | IntronicSNV | - | 10/20 |
1-19763396-C-A | CAPZB | c.4-17152G>T | - | IntronicSNV | - | 1/9 |
15-44245931-A-T | FRMD5 | c.103-29424T>A | - | IntronicSNV | - | 1/13 |
12-29496991-C-T | ERGIC2 | c.826-776G>A | - | IntronicSNV | - | 11/13 |
3-38219585-G-A | OXSR1 | c.71-4909G>A | - | IntronicSNV | - | 1/17 |
6-151932778-A-G | CCDC170 | c.1711-3800A>G | - | IntronicSNV | - | 9/10 |
13-114551993-T-C | GAS6 | c.256-970A>G | - | IntronicSNV | - | 2/14 |
10-12943973-C-T | CCDC3 | c.550-3294G>A | - | IntronicSNV | - | 2/2 |
6-44946506-T-A | SUPT3H | c.538-16941A>T | - | IntronicSNV | - | 8/12 |
5-31541142-G-T | C5orf22 | c.870+24G>T | - | IntronicSNV | - | 5/8 |
6-35614026-T-C | FKBP5 | c.1-3425A>G | - | IntronicSNV | - | 2/11 |
5-173320815-G-A | CPEB4 | c.1125+2954G>A | - | IntronicSNV | - | 1/9 |
11-18560317-G-A | UEVLD | c.1061-2301C>T | - | IntronicSNV | - | 9/10 |
1-205201325-A-T | TMCC2 | c.207+3426A>T | - | IntronicSNV | - | 1/4 |
7-120742980-C-T | CPED1 | c.918+2832C>T | - | IntronicSNV | - | 7/22 |
11-9769562-C-G | SWAP70 | c.1513C>G | p.Gln505Glu | Missense | 10/12 | - |
4-122769967-T-C | BBS7 | c.934+32A>G | - | IntronicSNV | - | 9/17 |
16-87886490-C-T | SLC7A5 | c.539-1035G>A | - | IntronicSNV | - | 1/9 |
16-87886490-C-G | SLC7A5 | c.539-1035G>C | - | IntronicSNV | - | 1/9 |
14-65502239-G-A | CHURC1-FNTB | c.554+2825G>A | - | IntronicSNV | - | 8/12 |
19-7244233-A-C | INSR | c.652+23123T>G | - | IntronicSNV | - | 2/21 |
15-72161403-T-C | MYO9A | c.5980-6451A>G | - | IntronicSNV | - | 32/41 |
2-37409499-C-G | SULT6B1 | c.288+1069G>C | - | IntronicSNV | - | 5/8 |
2-37409499-C-T | SULT6B1 | c.288+1069G>A | - | IntronicSNV | - | 5/8 |
10-80928793-G-A | ZMIZ1 | c.-50+6903G>A | - | intron_variant | - | 4/24 |
3-11400249-C-T | ATG7 | c.1479+163C>T | - | IntronicSNV | - | 13/18 |
3-11400249-C-A | ATG7 | c.1479+163C>A | - | IntronicSNV | - | 13/18 |
9-101743336-T-C | COL15A1 | c.101-4511T>C | - | IntronicSNV | - | 2/41 |
2-241510903-G-A | RNPEPL1 | c.529-937G>A | - | IntronicSNV | - | 1/10 |
1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
15-84580582-A-T | ADAMTSL3 | c.1701-1262A>T | - | IntronicSNV | - | 15/29 |
11-33913568-T-C | LMO2 | c.-562A>G | - | 5_prime_UTR_variant | 1/6 | - |
10-80928793-G-T | ZMIZ1 | c.-50+6903G>T | - | intron_variant | - | 4/24 |
4-38688362-C-T | KLF3 | c.58-1844C>T | - | IntronicSNV | - | 2/5 |
20-34023962-G-A | GDF5 | c.631+1116C>T | - | IntronicSNV | - | 1/1 |
8-116648565-A-C | TRPS1 | c.1-12701T>G | - | IntronicSNV | - | 1/6 |
12-65677086-T-C | MSRB3 | c.97+4441T>C | - | IntronicSNV | - | 1/5 |
5-141494934-C-T | NDFIP1 | c.63+6332C>T | - | IntronicSNV | - | 1/7 |
15-86249722-G-A | AKAP13 | c.5465-1528G>A | - | IntronicSNV | - | 17/36 |
19-44278781-G-A | KCNN4 | c.256-10C>T | - | IntronicSNV | - | 2/8 |
4-2218888-C-G | POLN | c.134-4035G>C | - | IntronicSNV | - | 3/25 |
4-2218888-C-T | POLN | c.134-4035G>A | - | IntronicSNV | - | 3/25 |
8-41630447-G-A | ANK1 | c.28-14792C>T | - | IntronicSNV | - | 1/41 |
19-4061544-C-T | ZBTB7A | c.-16+5136G>A | - | intron_variant | - | 1/2 |
11-8604593-T-C | STK33 | c.-311+10698A>G | - | intron_variant | - | 1/13 |
2-46353166-A-G | PRKCE | c.1593-19066A>G | - | IntronicSNV | - | 11/14 |
5-72144005-C-T | TNPO1 | c.16-207C>T | - | IntronicSNV | - | 1/24 |
10-101912064-T-C | ERLIN1 | c.871A>G | p.Ile291Val | Missense | 11/11 | - |
8-135650483-G-A | ZFAT | c.161-528C>T | - | IntronicSNV | - | 3/16 |
14-91465976-C-A | RPS6KA5 | c.175+1456G>T | - | IntronicSNV | - | 2/16 |
19-2177193-C-T | DOT1L | c.82-3519C>T | - | IntronicSNV | - | 1/27 |
3-141163045-T-C | ZBTB38 | c.1815T>C | p.Val605Val | Synonymous | 8/8 | - |
6-45244415-T-C | SUPT3H | c.134+45118A>G | - | IntronicSNV | - | 4/12 |
3-81792112-C-A | GBE1 | c.143+18414G>T | - | IntronicSNV | - | 1/15 |
11-57004344-G-A | APLNR | c.135C>T | p.Gly45Gly | Synonymous | 1/1 | - |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
5-176675423-A-G | NSD1 | c.3834+98A>G | - | IntronicSNV | - | 12/23 |
2-165540800-T-C | COBLL1 | c.*1656A>G | - | 3-UTRSNV | 14/14 | - |
22-40713861-T-A | TNRC6B | c.2562+1845T>A | - | IntronicSNV | - | 22/23 |
2-165548569-G-T | COBLL1 | c.3414+162C>A | - | IntronicSNV | - | 13/13 |
10-101805442-C-T | CPN1 | c.1230+3073G>A | - | IntronicSNV | - | 8/8 |
1-153927052-C-G | CRTC2 | c.373-260G>C | - | IntronicSNV | - | 3/13 |
4-122736053-T-C | EXOSC9 | c.1156+851T>C | - | IntronicSNV | - | 10/11 |
19-17240393-G-A | MYO9B | c.841-15814G>A | - | IntronicSNV | - | 2/39 |
9-95429120-A-C | IPPK | c.81+3070T>G | - | IntronicSNV | - | 1/12 |
7-50428445-T-C | IKZF1 | c.161-15786T>C | - | intron_variant | - | 3/7 |
17-2005136-C-G | SMG6 | c.634-15941G>C | - | IntronicSNV | - | 6/11 |
19-2177193-C-A | DOT1L | c.82-3519C>A | - | IntronicSNV | - | 1/27 |
19-2177193-C-G | DOT1L | c.82-3519C>G | - | IntronicSNV | - | 1/27 |
18-2766938-A-G | SMCHD1 | c.4720-2754A>G | - | IntronicSNV | - | 37/47 |
14-74218569-C-T | ELMSAN1 | c.-248+7897G>A | - | intron_variant | - | 1/11 |
11-118486067-T-C | PHLDB1 | c.184+670T>C | - | IntronicSNV | - | 4/23 |
6-160774441-G-C | SLC22A3 | c.429+4561G>C | - | IntronicSNV | - | 1/10 |
13-33723244-C-T | STARD13 | c.300-6734G>A | - | IntronicSNV | - | 3/7 |
11-61604814-C-A | FADS2 | c.208-436C>A | - | IntronicSNV | - | 1/11 |
19-4929473-A-G | UHRF1 | c.393A>G | p.Glu131Glu | Synonymous | 3/18 | - |
19-4929473-A-C | UHRF1 | c.393A>C | p.Glu131Asp | Missense | 3/18 | - |
2-27741237-T-C | GCKR | c.1423-418T>C | - | IntronicSNV | - | 16/18 |
5-36065463-C-G | UGT3A2 | c.95-1011G>C | - | IntronicSNV | - | 1/6 |
12-112003695-T-A | ATXN2 | c.252-9972A>T | - | intron_variant | - | 1/24 |
1-63025942-G-T | DOCK7 | c.2200-1051C>A | - | IntronicSNV | - | 19/48 |
1-150958836-A-G | ANXA9 | c.497A>G | p.Asp166Gly | Missense | 8/14 | - |
17-17420199-G-A | PEMT | c.210-4231C>T | - | IntronicSNV | - | 3/6 |
19-8456281-G-A | RAB11B | c.40+941G>A | - | IntronicSNV | - | 1/4 |
4-15655721-A-G | FBXL5 | c.84+1106T>C | - | IntronicSNV | - | 1/10 |
6-127452935-C-T | RSPO3 | c.97+12501C>T | - | IntronicSNV | - | 1/4 |
3-69845508-A-T | MITF | c.104+56656A>T | - | IntronicSNV | - | 1/9 |
19-44082429-C-A | PINLYP | c.71-313C>A | - | intron_variant | - | 2/5 |
8-4827332-T-C | CSMD1 | c.85+24522A>G | - | IntronicSNV | - | 1/69 |
6-111280332-G-C | GTF3C6 | c.58-43G>C | - | IntronicSNV | - | 1/5 |
3-51071713-T-C | DOCK3 | c.316-30166T>C | - | IntronicSNV | - | 5/52 |
2-33361425-A-G | LTBP1 | c.1201+1398A>G | - | IntronicSNV | - | 5/33 |
5-36065463-C-T | UGT3A2 | c.95-1011G>A | - | IntronicSNV | - | 1/6 |
18-46207268-G-A | CTIF | c.507+10153G>A | - | IntronicSNV | - | 6/11 |
9-4118111-G-T | GLIS3 | c.902C>A | p.Pro301Gln | Missense | 3/10 | - |
12-11855773-G-A | ETV6 | c.34-49611G>A | - | IntronicSNV | - | 1/7 |
13-21570246-T-G | LATS2 | c.343-4703A>C | - | IntronicSNV | - | 2/7 |
14-64703593-G-A | ESR2 | c.1226-1725C>T | - | IntronicSNV | - | 7/8 |
3-47927484-T-C | MAP4 | c.2000-8471A>G | - | IntronicSNV | - | 8/18 |
19-49206417-A-G | FUT2 | c.204A>G | p.Ala68Ala | Synonymous | 2/2 | - |
15-75845097-T-C | PTPN9 | c.64-25495A>G | - | IntronicSNV | - | 1/12 |
22-39907661-G-A | MIEF1 | c.145-193G>A | - | IntronicSNV | - | 3/5 |
13-28015542-G-A | MTIF3 | c.1-957C>T | - | IntronicSNV | - | 1/4 |
19-4366219-A-G | SH3GL1 | c.187+279T>C | - | IntronicSNV | - | 3/9 |
19-2176403-G-A | DOT1L | c.82-4309G>A | - | IntronicSNV | - | 1/27 |
11-61571478-T-C | FADS1 | c.1054-239A>G | - | IntronicSNV | - | 7/11 |
6-7804377-T-C | BMP6 | c.665-40996T>C | - | IntronicSNV | - | 1/6 |
15-101762539-C-T | CHSY1 | c.816+12748G>A | - | IntronicSNV | - | 2/2 |
16-11445040-G-A | RMI2 | c.*393G>A | - | 3-UTRSNV | 2/2 | - |
15-51269629-A-G | AP4E1 | c.1742-6590A>G | - | IntronicSNV | - | 15/20 |
4-88022709-C-T | AFF1 | c.1263-4071C>T | - | IntronicSNV | - | 7/19 |
4-88022709-C-A | AFF1 | c.1263-4071C>A | - | IntronicSNV | - | 7/19 |
4-124066948-G-A | SPATA5 | c.2340+55088G>A | - | IntronicSNV | - | 14/15 |
2-26357748-G-C | RAB10 | c.520-59G>C | - | IntronicSNV | - | 5/5 |
12-121154221-T-C | UNC119B | c.359-210T>C | - | IntronicSNV | - | 2/4 |
2-25040082-C-T | CENPO | c.766+396C>T | - | IntronicSNV | - | 6/7 |
9-119422807-T-A | ASTN2 | c.2654-8735A>T | - | IntronicSNV | - | 15/21 |
18-43833278-G-A | C18orf25 | c.899-385G>A | - | IntronicSNV | - | 3/4 |
17-7578115-T-A | TP53 | c.672+62A>T | - | IntronicSNV | - | 6/10 |
17-7578115-T-C | TP53 | c.672+62A>G | - | IntronicSNV | - | 6/10 |
2-190432985-C-G | SLC40A1 | c.515-2660G>C | - | IntronicSNV | - | 5/7 |
11-61549025-G-A | MYRF | c.2660-20G>A | - | IntronicSNV | - | 20/25 |
10-104595849-G-C | CYP17A1 | c.298-700C>G | - | IntronicSNV | - | 1/7 |
10-104595849-G-T | CYP17A1 | c.298-700C>A | - | IntronicSNV | - | 1/7 |
10-104595849-G-A | CYP17A1 | c.298-700C>T | - | IntronicSNV | - | 1/7 |
1-231558054-G-A | EGLN1 | c.1-420C>T | - | 5-UTRSNV | 1/5 | - |
1-231558054-G-C | EGLN1 | c.1-420C>G | - | 5-UTRSNV | 1/5 | - |
5-176817636-A-G | SLC34A1 | c.936+2263A>G | - | IntronicSNV | - | 8/12 |
10-87410904-A-G | GRID1 | c.1998-3750T>C | - | IntronicSNV | - | 12/15 |
18-46460903-C-A | SMAD7 | c.742+7948G>T | - | IntronicSNV | - | 3/3 |
18-46460903-C-G | SMAD7 | c.742+7948G>C | - | IntronicSNV | - | 3/3 |
3-185818882-A-G | ETV5 | c.232+4212T>C | - | IntronicSNV | - | 5/12 |
4-77129568-C-G | SCARB2 | c.117+5012G>C | - | IntronicSNV | - | 1/11 |
2-114653871-A-G | ACTR3 | c.44+5971A>G | - | IntronicSNV | - | 1/11 |
4-48687351-A-G | FRYL | c.-203-539T>C | - | intron_variant | - | 2/63 |
2-183219101-C-A | PDE1A | c.102-89960G>T | - | IntronicSNV | - | 2/14 |
5-79836192-G-T | FAM151B | c.672-1300G>T | - | IntronicSNV | - | 5/5 |
20-33175466-C-T | PIGU | c.782+791G>A | - | IntronicSNV | - | 8/11 |
7-80298173-C-T | CD36 | c.749-1096C>T | - | IntronicSNV | - | 8/13 |
10-80928793-G-C | ZMIZ1 | c.-50+6903G>C | - | intron_variant | - | 4/24 |
18-46463136-A-C | SMAD7 | c.742+5715T>G | - | IntronicSNV | - | 3/3 |
10-102684380-C-A | SLF2 | c.1622C>A | p.Ser541Tyr | Missense | 5/19 | - |
12-111884608-T-C | SH2B3 | c.784T>C | p.Trp262Arg | Missense | 3/8 | - |
12-111884608-T-A | SH2B3 | c.784T>A | p.Trp262Arg | Missense | 3/8 | - |
4-186697494-T-C | SORBS2 | c.-180-974A>G | - | intron_variant | - | 1/22 |
7-95169514-G-T | ASB4 | c.*2443G>T | - | 3-UTRSNV | 5/5 | - |
17-29262773-T-C | ADAP2 | c.510+1458T>C | - | IntronicSNV | - | 5/10 |
15-78591037-A-G | WDR61 | c.-40+867T>C | - | intron_variant | - | 1/10 |
19-18577873-G-C | ELL | c.184-1145C>G | - | IntronicSNV | - | 2/11 |
12-20857467-A-C | SLCO1C1 | c.272-1416A>C | - | IntronicSNV | - | 3/14 |
11-86881464-G-T | TMEM135 | c.462+13016G>T | - | IntronicSNV | - | 5/14 |
11-128586155-C-T | FLI1 | c.18+21984C>T | - | IntronicSNV | - | 1/8 |
19-33356891-T-C | SLC7A9 | c.88-1209A>G | - | IntronicSNV | - | 2/12 |
10-114756041-A-G | TCF7L2 | c.382-43743A>G | - | IntronicSNV | - | 3/13 |
2-73868328-A-G | NAT8 | c.428T>C | p.Phe143Ser | Missense | 2/2 | - |
1-25636197-A-G | RHD | c.1073+2977A>G | - | IntronicSNV | - | 7/9 |
11-18560317-G-C | UEVLD | c.1061-2301C>G | - | IntronicSNV | - | 9/10 |
3-24341268-A-G | THRB | c.-43+37523T>C | - | intron_variant | - | 2/9 |
3-191111160-A-G | CCDC50 | c.*1611A>G | - | 3-UTRSNV | 11/11 | - |
11-47468569-A-G | RAPSN | c.531+795T>C | - | IntronicSNV | - | 2/7 |
15-84514290-C-G | ADAMTSL3 | c.727+7323C>G | - | IntronicSNV | - | 7/29 |
15-84514290-C-A | ADAMTSL3 | c.727+7323C>A | - | IntronicSNV | - | 7/29 |
15-84514290-C-T | ADAMTSL3 | c.727+7323C>T | - | IntronicSNV | - | 7/29 |
14-65568215-G-A | MAX | c.63+49C>T | - | IntronicSNV | - | 2/3 |
9-139111870-G-T | QSOX2 | c.822-860C>A | - | IntronicSNV | - | 6/11 |
9-2640759-A-G | VLDLR | c.326-618A>G | - | IntronicSNV | - | 3/18 |
2-219557738-G-T | STK36 | c.2044-225G>T | - | IntronicSNV | - | 16/26 |
10-18727959-C-T | CACNB2 | c.168+36987C>T | - | IntronicSNV | - | 2/12 |
17-53242391-A-T | STXBP4 | c.*5119A>T | - | IntergenicSNV | 18/18 | - |
10-18727959-C-G | CACNB2 | c.168+36987C>G | - | IntronicSNV | - | 2/12 |
2-44768202-T-C | CAMKMT | c.376+150758T>C | - | IntronicSNV | - | 3/10 |
3-41877414-T-C | ULK4 | c.1706A>G | p.Lys569Arg | Missense | 18/37 | - |
19-52324216-G-C | FPR3 | c.1-2786G>C | - | IntronicSNV | - | 1/1 |
6-19840926-T-C | ID4 | c.*2067T>C | - | 3-UTRSNV | 3/3 | - |
19-52324216-G-A | FPR3 | c.1-2786G>A | - | IntronicSNV | - | 1/1 |
1-11889815-G-A | CLCN6 | c.1248+436G>A | - | IntronicSNV | - | 13/22 |
15-66007972-A-T | DENND4A | c.1808-11T>A | - | IntronicSNV | - | 13/31 |
11-244552-A-G | PSMD13 | c.309+83A>G | - | IntronicSNV | - | 5/12 |
19-50044741-C-T | RCN3 | c.680-1069C>T | - | IntronicSNV | - | 5/6 |
8-118185733-A-G | SLC30A8 | c.*813A>G | - | 3-UTRSNV | 8/8 | - |
19-50044741-C-G | RCN3 | c.680-1069C>G | - | IntronicSNV | - | 5/6 |
17-27955540-C-G | SSH2 | c.*2319G>C | - | 3-UTRSNV | 15/15 | - |
15-66066618-G-C | DENND4A | c.-94-12842C>G | - | intron_variant | - | 1/31 |
22-37462936-A-T | TMPRSS6 | c.2207T>A | p.Val736Asp | Missense | 17/18 | - |
9-119122342-C-T | PAPPA | c.4348-2529C>T | - | IntronicSNV | - | 17/21 |
1-203650945-C-T | ATP2B4 | c.1-1389C>T | - | IntronicSNV | - | 1/21 |
1-11284336-A-G | MTOR | c.3030+4389T>C | - | IntronicSNV | - | 19/57 |
22-32880585-T-A | FBXO7 | c.409-470T>A | - | IntronicSNV | - | 3/8 |
1-11284336-A-T | MTOR | c.3030+4389T>A | - | IntronicSNV | - | 19/57 |
22-32880585-T-C | FBXO7 | c.409-470T>C | - | IntronicSNV | - | 3/8 |
4-77368847-G-A | SHROOM3 | c.168+11474G>A | - | IntronicSNV | - | 1/10 |
15-75077367-C-T | CSK | c.-66+2306C>T | - | intron_variant | - | 1/12 |
5-37046626-A-G | NIPBL | c.6589+325A>G | - | IntronicSNV | - | 38/45 |
1-214176779-C-T | PROX1 | c.1726-1729C>T | - | IntronicSNV | - | 2/4 |
17-7571752-T-G | TP53 | c.*1175A>C | - | 3-UTRSNV | 11/11 | - |
12-53664015-G-A | ESPL1 | c.1143+146G>A | - | IntronicSNV | - | 3/30 |
3-141231932-G-A | RASA2 | c.251+810G>A | - | IntronicSNV | - | 2/23 |
5-176576293-C-A | NSD1 | c.120+13262C>A | - | IntronicSNV | - | 3/23 |
15-75077367-C-A | CSK | c.-66+2306C>A | - | intron_variant | - | 1/12 |
16-88777242-C-T | CTU2 | c.282+552C>T | - | IntronicSNV | - | 4/13 |
11-8938049-A-T | AKIP1 | c.409-785A>T | - | IntronicSNV | - | 4/5 |
2-23897725-G-A | KLHL29 | c.941-9544G>A | - | IntronicSNV | - | 5/13 |
5-129054621-A-T | ADAMTS19 | c.3312+14537A>T | - | intron_variant | - | 21/22 |
6-33628863-A-G | ITPR3 | c.712-1442A>G | - | IntronicSNV | - | 7/57 |
8-123980551-C-T | ZHX2 | c.*5-4931C>T | - | intron_variant | - | 3/3 |
4-3473139-A-G | DOK7 | c.101-1994A>G | - | IntronicSNV | - | 2/6 |
3-24341268-A-T | THRB | c.-43+37523T>A | - | intron_variant | - | 2/9 |
4-115569030-T-G | UGT8 | c.823-16121T>G | - | IntronicSNV | - | 1/4 |
9-136146597-C-T | ABO | c.28+3981G>A | - | IntronicSNV | - | 1/7 |
15-67033151-T-C | SMAD6 | c.952+24315T>C | - | IntronicSNV | - | 3/3 |
9-136146597-C-A | ABO | c.28+3981G>T | - | IntronicSNV | - | 1/7 |
17-44227393-T-C | KANSL1 | c.1289+20828A>G | - | IntronicSNV | - | 2/14 |
17-44227393-T-A | KANSL1 | c.1289+20828A>T | - | IntronicSNV | - | 2/14 |
5-108113344-C-T | FER | c.-60+9405C>T | - | intron_variant | - | 2/19 |
7-129080620-A-G | STRIP2 | c.199+688A>G | - | IntronicSNV | - | 2/19 |
11-110016519-T-G | ZC3H12C | c.774-7125T>G | - | IntronicSNV | - | 2/5 |
10-1156165-T-C | WDR37 | c.1103+4958T>C | - | IntronicSNV | - | 11/13 |
2-113965198-T-A | PSD4 | c.*6206T>A | - | IntergenicSNV | 17/17 | - |
7-137611566-A-T | CREB3L2 | c.319+1330T>A | - | IntronicSNV | - | 2/11 |
19-17252041-G-A | MYO9B | c.841-4166G>A | - | IntronicSNV | - | 2/39 |
7-137611566-A-C | CREB3L2 | c.319+1330T>G | - | IntronicSNV | - | 2/11 |
5-176798040-T-G | RGS14 | c.1254+8T>G | - | IntronicSNV | - | 11/14 |
2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
20-21356545-C-T | XRN2 | c.2585-6087C>T | - | IntronicSNV | - | 27/29 |
2-183219101-C-G | PDE1A | c.102-89960G>C | - | IntronicSNV | - | 2/14 |
7-20382377-C-G | ITGB8 | c.127+10821C>G | - | IntronicSNV | - | 1/13 |
9-123381222-C-A | MEGF9 | c.943+3672G>T | - | IntronicSNV | - | 3/5 |
1-172083881-G-A | DNM3 | c.1546-16434G>A | - | IntronicSNV | - | 13/20 |
16-53515118-G-A | RBL2 | c.3084+437G>A | - | IntronicSNV | - | 20/21 |
5-54955071-T-C | SLC38A9 | c.698-2469A>G | - | IntronicSNV | - | 8/15 |
22-28181399-C-G | MN1 | c.3781+11352G>C | - | IntronicSNV | - | 1/1 |
6-47475022-T-G | CD2AP | c.165+3846T>G | - | IntronicSNV | - | 2/17 |
17-79525660-A-G | NPLOC4 | c.*625T>C | - | 3-UTRSNV | 17/17 | - |
17-76718842-C-A | CYTH1 | c.23-13028G>T | - | IntronicSNV | - | 1/12 |
3-4728104-G-A | ITPR1 | c.3630+1214G>A | - | IntronicSNV | - | 29/57 |
16-53515118-G-T | RBL2 | c.3084+437G>T | - | IntronicSNV | - | 20/21 |
22-28181399-C-T | MN1 | c.3781+11352G>A | - | IntronicSNV | - | 1/1 |
8-120596023-A-G | ENPP2 | c.1477T>C | p.Ser493Pro | Missense | 17/25 | - |
6-127452639-C-G | RSPO3 | c.97+12205C>G | - | IntronicSNV | - | 1/4 |
1-10325610-A-G | KIF1B | c.430-1828A>G | - | IntronicSNV | - | 5/46 |
17-76718842-C-T | CYTH1 | c.23-13028G>A | - | IntronicSNV | - | 1/12 |
16-30015337-A-G | INO80E | c.514-1205A>G | - | IntronicSNV | - | 6/6 |
1-67510474-A-G | SLC35D1 | c.637-2463T>C | - | IntronicSNV | - | 7/11 |
9-15634326-T-A | CCDC171 | c.822+10915T>A | - | IntronicSNV | - | 7/25 |
1-3318769-C-A | PRDM16 | c.677-586C>A | - | IntronicSNV | - | 5/16 |
1-3318769-C-G | PRDM16 | c.677-586C>G | - | IntronicSNV | - | 5/16 |
12-21331549-T-C | SLCO1B1 | c.521T>C | p.Val174Ala | Missense | 6/15 | - |
12-111884608-T-G | SH2B3 | c.784T>G | p.Trp262Gly | Missense | 3/8 | - |
1-156963975-G-A | ARHGEF11 | c.33-8010C>T | - | IntronicSNV | - | 1/40 |
22-29449477-A-G | ZNRF3 | c.2768-90A>G | - | IntronicSNV | - | 8/8 |
1-146692373-C-T | FMO5 | c.135+4114G>A | - | IntronicSNV | - | 2/8 |
2-43464818-G-A | THADA | c.5297-4797C>T | - | IntronicSNV | - | 36/37 |
1-17306675-C-A | MFAP2 | c.-42+407G>T | - | intron_variant | - | 1/8 |
22-36758547-A-G | MYH9 | c.1-13266T>C | - | IntronicSNV | - | 1/40 |
7-100235970-C-A | TFR2 | c.473+2339G>T | - | IntronicSNV | - | 3/17 |
2-71584485-G-A | ZNF638 | c.1379+1575G>A | - | IntronicSNV | - | 3/27 |
1-205201325-A-C | TMCC2 | c.207+3426A>C | - | IntronicSNV | - | 1/4 |
22-46627603-C-T | PPARA | c.712-86C>T | - | IntronicSNV | - | 6/7 |
5-67593016-T-C | PIK3R1 | c.1176-224T>C | - | IntronicSNV | - | 9/9 |
5-67593016-T-A | PIK3R1 | c.1176-224T>A | - | IntronicSNV | - | 9/9 |
16-81589983-A-C | CMIP | c.19-51189A>C | - | IntronicSNV | - | 1/20 |
3-69841880-C-A | MITF | c.104+53028C>A | - | IntronicSNV | - | 1/9 |
6-160774441-G-A | SLC22A3 | c.429+4561G>A | - | IntronicSNV | - | 1/10 |
6-127448249-C-G | RSPO3 | c.97+7815C>G | - | IntronicSNV | - | 1/4 |
3-52567617-A-G | NT5DC2 | c.121+932T>C | - | IntronicSNV | - | 1/13 |
14-37144516-C-T | PAX9 | c.772-887C>T | - | IntronicSNV | - | 4/4 |
7-135394174-A-T | SLC13A4 | c.229-1176T>A | - | IntronicSNV | - | 2/15 |
6-131328080-G-C | EPB41L2 | c.1-50455C>G | - | IntronicSNV | - | 1/14 |
1-54119578-G-A | GLIS1 | c.-266-53627C>T | - | intron_variant | - | 1/9 |
16-53809247-G-A | FTO | c.46-34805G>A | - | IntronicSNV | - | 1/8 |
6-160774441-G-T | SLC22A3 | c.429+4561G>T | - | IntronicSNV | - | 1/10 |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
10-46009818-C-T | MARCH8 | c.102+18740G>A | - | IntronicSNV | - | 2/6 |
20-34025756-A-G | GDF5 | c.1-48T>C | - | 5-UTRSNV | 1/2 | - |
11-30347927-A-G | ARL14EP | c.-64+3178A>G | - | intron_variant | - | 1/3 |
19-47597102-T-C | ZC3H4 | c.492+125A>G | - | IntronicSNV | - | 4/14 |
12-121416650-A-T | HNF1A | c.79A>T | p.Ile27Phe | Missense | 1/10 | - |
8-25298710-G-C | KCTD9 | c.215-521C>G | - | IntronicSNV | - | 3/11 |
15-89415247-C-G | ACAN | c.7005C>G | p.Asp2335Glu | Missense | 14/16 | - |
20-3742066-T-C | C20orf27 | c.1-1319A>G | - | IntronicSNV | - | 1/5 |
20-47772264-A-T | STAU1 | c.206-1656T>A | - | IntronicSNV | - | 3/13 |
10-114756041-A-T | TCF7L2 | c.382-43743A>T | - | IntronicSNV | - | 3/13 |
2-176974104-G-T | HOXD11 | c.*234G>T | - | 3-UTRSNV | 2/2 | - |
14-35241254-G-A | BAZ1A | c.3153-389C>T | - | IntronicSNV | - | 20/26 |
9-136131463-G-A | ABO | c.654C>T | p.Thr218Thr | Synonymous | 8/8 | - |
6-142703877-G-A | ADGRG6 | c.1138+721G>A | - | IntronicSNV | - | 5/24 |
1-119491784-A-G | TBX15 | c.1-17442T>C | - | IntronicSNV | - | 1/7 |
1-248038210-G-A | TRIM58 | c.872-992G>A | - | IntronicSNV | - | 5/5 |
12-28534415-G-C | CCDC91 | c.655-9822G>C | - | IntronicSNV | - | 7/12 |
1-149938898-T-C | OTUD7B | c.502+321A>G | - | IntronicSNV | - | 4/11 |
12-66359752-C-A | HMGA2 | c.*2680C>A | - | 3-UTRSNV | 5/5 | - |
7-98775453-C-A | KPNA7 | c.1464+90G>T | - | IntronicSNV | - | 9/9 |
3-16932989-G-A | PLCL2 | c.327+6124G>A | - | intron_variant | - | 4/8 |
17-27955540-C-T | SSH2 | c.*2319G>A | - | 3-UTRSNV | 15/15 | - |
21-37834258-T-C | CLDN14 | c.1-265A>G | - | IntronicSNV | - | 2/2 |
19-45395619-A-G | TOMM40 | c.275-31A>G | - | IntronicSNV | - | 2/9 |
8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
16-81070008-G-A | ATMIN | c.336+197G>A | - | IntronicSNV | - | 1/3 |
16-81070008-G-C | ATMIN | c.336+197G>C | - | IntronicSNV | - | 1/3 |
7-98775453-C-G | KPNA7 | c.1464+90G>C | - | IntronicSNV | - | 9/9 |
19-12186611-A-G | ZNF844 | c.676A>G | p.Lys226Glu | Missense | 4/4 | - |
1-184023529-A-T | TSEN15 | c.177A>T | p.Gln59His | Missense | 2/4 | - |
1-184023529-A-C | TSEN15 | c.177A>C | p.Gln59His | Missense | 2/4 | - |
1-184023529-A-G | TSEN15 | c.177A>G | p.Gln59Gln | Synonymous | 2/4 | - |
1-214180721-A-G | PROX1 | c.1833+2106A>G | - | IntronicSNV | - | 3/4 |
3-47511698-T-C | SCAP | c.-99+5591A>G | - | intron_variant | - | 1/22 |
3-51071713-T-G | DOCK3 | c.316-30166T>G | - | IntronicSNV | - | 5/52 |
2-113962835-G-C | PSD4 | c.*3843G>C | - | IntergenicSNV | 17/17 | - |
2-113962835-G-A | PSD4 | c.*3843G>A | - | IntergenicSNV | 17/17 | - |
1-17306675-C-G | MFAP2 | c.-42+407G>C | - | intron_variant | - | 1/8 |
22-44324730-C-T | PNPLA3 | c.447C>T | p.Pro149Pro | Synonymous | 3/9 | - |
16-89734831-A-G | SPATA33 | c.209-863A>G | - | IntronicSNV | - | 2/2 |
2-190432985-C-T | SLC40A1 | c.515-2660G>A | - | IntronicSNV | - | 5/7 |
16-81070008-G-T | ATMIN | c.336+197G>T | - | IntronicSNV | - | 1/3 |
12-28534415-G-T | CCDC91 | c.655-9822G>T | - | IntronicSNV | - | 7/12 |
9-4847570-T-C | RCL1 | c.868-1877T>C | - | IntronicSNV | - | 7/8 |
1-113202571-G-A | CAPZA1 | c.585+170G>A | - | IntronicSNV | - | 7/9 |
11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
7-114313218-A-G | FOXP2 | c.2003+8727A>G | - | IntronicSNV | - | 16/16 |
2-46355051-A-C | PRKCE | c.1593-17181A>C | - | IntronicSNV | - | 11/14 |
12-121204682-C-G | SPPL3 | c.974-507G>C | - | IntronicSNV | - | 9/10 |
1-172140548-C-T | DNM3 | c.1659+40120C>T | - | IntronicSNV | - | 14/20 |
11-56230069-T-C | OR5M9 | c.809A>G | p.Lys270Arg | Missense | 1/1 | - |
19-33525713-T-G | RHPN2 | c.186-8175A>C | - | IntronicSNV | - | 2/14 |
14-75038689-T-C | LTBP2 | c.830+13868A>G | - | IntronicSNV | - | 3/35 |
10-126358073-G-T | FAM53B | c.906+12103C>A | - | IntronicSNV | - | 4/4 |
22-29451671-A-G | ZNRF3 | c.*2061A>G | - | 3-UTRSNV | 9/9 | - |
12-121204682-C-T | SPPL3 | c.974-507G>A | - | IntronicSNV | - | 9/10 |
6-25590834-T-TT | CARMIL1 | c.3007-3809_3007-3809dup | - | IntronicInsertion | - | 31/36 |
3-141275436-G-T | RASA2 | c.684+682G>T | - | IntronicSNV | - | 7/23 |
9-4847570-T-A | RCL1 | c.868-1877T>A | - | IntronicSNV | - | 7/8 |
16-30985994-G-C | SETD1A | c.3358+2954G>C | - | IntronicSNV | - | 13/18 |
16-30985994-G-T | SETD1A | c.3358+2954G>T | - | IntronicSNV | - | 13/18 |
1-68656697-T-A | WLS | c.379+2941A>T | - | IntronicSNV | - | 2/11 |
1-68656697-T-C | WLS | c.379+2941A>G | - | IntronicSNV | - | 2/11 |
10-5247098-G-A | AKR1C4 | c.370-622G>A | - | IntronicSNV | - | 3/8 |
21-39838035-T-A | ERG | c.19-20491A>T | - | IntronicSNV | - | 1/9 |
6-133630561-G-A | EYA4 | c.33+34610G>A | - | IntronicSNV | - | 2/19 |
1-3691528-A-G | SMIM1 | c.1-410A>G | - | IntronicSNV | - | 2/3 |
1-172053287-T-C | DNM3 | c.1493+2245T>C | - | IntronicSNV | - | 12/20 |
17-599811-A-C | VPS53 | c.285+847T>G | - | IntronicSNV | - | 4/17 |
17-599811-A-G | VPS53 | c.285+847T>C | - | IntronicSNV | - | 4/17 |
19-37441980-A-G | ZNF568 | c.1925A>G | p.Gln642Arg | Missense | 7/7 | - |
19-37441980-A-T | ZNF568 | c.1925A>T | p.Gln642Leu | Missense | 7/7 | - |
12-133069894-G-A | FBRSL1 | c.291+2447G>A | - | IntronicSNV | - | 1/16 |
1-149876124-T-C | SV2A | c.*442A>G | - | 3-UTRSNV | 3/3 | - |
6-144079629-T-G | PHACTR2 | c.422-1909T>G | - | IntronicSNV | - | 4/12 |
12-109095137-A-T | CORO1C | c.1-43T>A | - | IntronicSNV | - | 1/10 |
2-1645673-C-T | PXDN | c.3952+1467G>A | - | IntronicSNV | - | 19/22 |
16-990815-C-T | LMF1 | c.504-6561G>A | - | IntronicSNV | - | 2/10 |
4-5016883-G-A | CYTL1 | c.406C>T | p.Arg136Cys | Missense | 4/4 | - |
13-110407906-T-C | IRS2 | c.*745A>G | - | 3-UTRSNV | 2/2 | - |