Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
20-33973378-G-C | UQCC1 | c.130-1442C>G | - | IntronicSNV | - | 2/9 |
21-44276432-G-C | WDR4 | c.628-542C>G | - | IntronicSNV | - | 6/10 |
6-126661858-C-T | CENPW | c.126+313C>T | - | IntronicSNV | - | 1/2 |
1-109817192-A-G | CELSR2 | c.*521A>G | - | 3-UTRSNV | 34/34 | - |
1-62908235-T-C | USP1 | c.396+265T>C | - | IntronicSNV | - | 4/8 |
2-169798171-A-G | ABCB11 | c.2610+2944T>C | - | IntronicSNV | - | 21/27 |
1-63013786-A-G | DOCK7 | c.2767-4370T>C | - | IntronicSNV | - | 22/48 |
2-27741072-C-G | GCKR | c.1423-583C>G | - | IntronicSNV | - | 16/18 |
16-53821297-T-C | FTO | c.46-22755T>C | - | IntronicSNV | - | 1/8 |
1-63122859-C-A | DOCK7 | c.145-3029G>T | - | IntronicSNV | - | 2/48 |
20-33967523-T-C | UQCC1 | c.333+2198A>G | - | IntronicSNV | - | 4/9 |
2-44066247-G-A | ABCG8 | c.55G>A | p.Asp19Asn | Missense | 1/13 | - |
20-33997291-T-G | UQCC1 | c.24+2452A>C | - | IntronicSNV | - | 1/9 |
20-33997291-T-A | UQCC1 | c.24+2452A>T | - | IntronicSNV | - | 1/9 |
16-57008227-G-A | CETP | c.931-786G>A | - | IntronicSNV | - | 9/15 |
3-141124607-T-C | ZBTB38 | c.-1+1734T>C | - | intron_variant | - | 7/7 |
15-89383764-T-C | ACAN | c.629+347T>C | - | IntronicSNV | - | 4/15 |
8-19816934-T-C | LPL | c.1139+43T>C | - | IntronicSNV | - | 7/9 |
6-142652416-T-G | ADGRG6 | c.103+21635T>G | - | IntronicSNV | - | 2/24 |
5-74808880-C-T | POLK | c.-14+1141C>T | - | intron_variant | - | 1/14 |
16-53827179-C-G | FTO | c.46-16873C>G | - | IntronicSNV | - | 1/8 |
5-74768347-C-A | COL4A3BP | c.232-13341G>T | - | IntronicSNV | - | 2/17 |
2-44075483-T-C | ABCG8 | c.322+2033T>C | - | IntronicSNV | - | 3/12 |
1-63107526-C-T | DOCK7 | c.819-5252G>A | - | IntronicSNV | - | 7/48 |
7-44245363-A-C | YKT6 | c.188-621A>C | - | IntronicSNV | - | 2/6 |
7-44245363-A-G | YKT6 | c.188-621A>G | - | IntronicSNV | - | 2/6 |
1-62973795-A-T | DOCK7 | c.4287-66T>A | - | IntronicSNV | - | 33/48 |
1-62973795-A-G | DOCK7 | c.4287-66T>C | - | IntronicSNV | - | 33/48 |
1-63096781-C-A | DOCK7 | c.1282+130G>T | - | IntronicSNV | - | 11/48 |
2-44074000-G-A | ABCG8 | c.322+550G>A | - | IntronicSNV | - | 3/12 |
16-53822239-A-G | FTO | c.46-21813A>G | - | IntronicSNV | - | 1/8 |
16-53822239-A-T | FTO | c.46-21813A>T | - | IntronicSNV | - | 1/8 |
3-141106954-A-T | ZBTB38 | c.-351+1175A>T | - | intron_variant | - | 5/7 |
13-28499962-G-C | PDX1 | c.*1124G>C | - | 3-UTRSNV | 2/2 | - |
1-62983751-C-T | DOCK7 | c.3844-4182G>A | - | IntronicSNV | - | 30/48 |
19-45351891-A-C | NECTIN2 | c.88+2021A>C | - | IntronicSNV | - | 1/5 |
16-56790343-A-G | NUP93 | c.180-2107A>G | - | IntronicSNV | - | 2/21 |
2-169799288-C-T | ABCB11 | c.2610+1827G>A | - | IntronicSNV | - | 21/27 |
5-74639259-T-G | HMGCR | c.166-419T>G | - | IntronicSNV | - | 2/19 |
2-169799288-C-G | ABCB11 | c.2610+1827G>C | - | IntronicSNV | - | 21/27 |
8-19815619-T-C | LPL | c.1019-1152T>C | - | IntronicSNV | - | 6/9 |
2-227660641-A-G | IRS1 | c.2814T>C | p.Thr938Thr | Synonymous | 1/2 | - |
2-169735430-G-A | SPC25 | c.200-1536C>T | - | IntronicSNV | - | 3/6 |
16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
6-142751062-G-C | ADGRG6 | c.3236-7509G>C | - | IntronicSNV | - | 21/24 |
2-169811618-T-A | ABCB11 | c.2343+2856A>T | - | IntronicSNV | - | 19/27 |
16-56998572-G-C | CETP | c.233+1536G>C | - | IntronicSNV | - | 2/15 |
6-142757368-G-A | ADGRG6 | c.3236-1203G>A | - | IntronicSNV | - | 21/24 |
6-142652344-C-T | ADGRG6 | c.103+21563C>T | - | IntronicSNV | - | 2/24 |
16-53819893-A-G | FTO | c.46-24159A>G | - | IntronicSNV | - | 1/8 |
8-19820480-C-T | LPL | c.1427+750C>T | - | IntronicSNV | - | 9/9 |
8-19824563-T-C | LPL | c.*1742T>C | - | 3-UTRSNV | 10/10 | - |
5-176813404-C-T | SLC34A1 | c.389-20C>T | - | IntronicSNV | - | 4/12 |
6-142710988-C-G | ADGRG6 | c.1139-407C>G | - | IntronicSNV | - | 5/24 |
1-62906489-G-T | USP1 | c.171-670G>T | - | IntronicSNV | - | 2/8 |
16-53820813-A-G | FTO | c.46-23239A>G | - | IntronicSNV | - | 1/8 |
16-53816838-G-A | FTO | c.46-27214G>A | - | IntronicSNV | - | 1/8 |
6-25821616-T-G | SLC17A1 | c.208-1473A>C | - | IntronicSNV | - | 3/12 |
20-33984976-T-G | UQCC1 | c.25-2977A>C | - | IntronicSNV | - | 1/9 |
20-33984976-T-C | UQCC1 | c.25-2977A>G | - | IntronicSNV | - | 1/9 |
20-33984976-T-A | UQCC1 | c.25-2977A>T | - | IntronicSNV | - | 1/9 |
2-169779764-C-A | ABCB11 | c.*368G>T | - | 3-UTRSNV | 28/28 | - |
2-169779764-C-G | ABCB11 | c.*368G>C | - | 3-UTRSNV | 28/28 | - |
2-169779764-C-T | ABCB11 | c.*368G>A | - | 3-UTRSNV | 28/28 | - |
16-53824007-G-A | FTO | c.46-20045G>A | - | IntronicSNV | - | 1/8 |
2-169758357-T-C | G6PC2 | c.218+298T>C | - | IntronicSNV | - | 1/4 |
3-141129999-G-A | ZBTB38 | c.-1+7126G>A | - | intron_variant | - | 7/7 |
7-44261978-G-A | CAMK2B | c.947-1478C>T | - | IntronicSNV | - | 12/15 |
1-62943007-G-T | DOCK7 | c.5541+364C>A | - | IntronicSNV | - | 43/48 |
7-44210710-C-G | GCK | c.46-17648G>C | - | IntronicSNV | - | 1/9 |
7-44210710-C-T | GCK | c.46-17648G>A | - | IntronicSNV | - | 1/9 |
16-57009388-G-T | CETP | c.981+325G>T | - | IntronicSNV | - | 10/15 |
16-57009388-G-A | CETP | c.981+325G>A | - | IntronicSNV | - | 10/15 |
2-169797526-C-T | ABCB11 | c.2610+3589G>A | - | IntronicSNV | - | 21/27 |
6-25821616-T-A | SLC17A1 | c.208-1473A>T | - | IntronicSNV | - | 3/12 |
1-62991369-T-C | DOCK7 | c.3843+2453A>G | - | IntronicSNV | - | 30/48 |
3-141140366-A-T | ZBTB38 | c.-1+17493A>T | - | intron_variant | - | 7/7 |
16-57061189-T-C | NLRC5 | c.2075+259T>C | - | IntronicSNV | - | 5/47 |
2-44055510-C-T | ABCG5 | c.502-256G>A | - | IntronicSNV | - | 4/12 |
2-44055510-C-A | ABCG5 | c.502-256G>T | - | IntronicSNV | - | 4/12 |
2-169597715-A-G | CERS6 | c.845+23227A>G | - | IntronicSNV | - | 8/9 |
6-142653898-A-G | ADGRG6 | c.103+23117A>G | - | IntronicSNV | - | 2/24 |
20-33972053-C-T | UQCC1 | c.130-117G>A | - | IntronicSNV | - | 2/9 |
1-63099577-G-A | DOCK7 | c.1036-328C>T | - | IntronicSNV | - | 9/48 |
11-64478063-G-C | NRXN2 | c.730+2379C>G | - | IntronicSNV | - | 2/22 |
11-64478063-G-A | NRXN2 | c.730+2379C>T | - | IntronicSNV | - | 2/22 |
1-62970996-T-C | DOCK7 | c.4518+357A>G | - | IntronicSNV | - | 35/48 |
8-19821425-T-A | LPL | c.-1-1396T>A | - | IntronicSNV | - | 9/9 |
8-19821425-T-G | LPL | c.-1-1396T>G | - | IntronicSNV | - | 9/9 |
15-58731153-G-T | LIPC | c.88+6834G>T | - | IntronicSNV | - | 1/8 |
15-58731153-G-A | LIPC | c.88+6834G>A | - | IntronicSNV | - | 1/8 |
15-58731153-G-C | LIPC | c.88+6834G>C | - | IntronicSNV | - | 1/8 |
6-127440047-T-C | RSPO3 | c.1-291T>C | - | IntergenicSNV | 1/5 | - |
20-33951799-G-C | UQCC1 | c.464+2561C>G | - | IntronicSNV | - | 6/9 |
20-33985057-A-G | UQCC1 | c.25-3058T>C | - | IntronicSNV | - | 1/9 |
8-19801530-T-G | LPL | c.89-4161T>G | - | IntronicSNV | - | 1/9 |
1-62915473-C-T | USP1 | c.1623-444C>T | - | IntronicSNV | - | 8/8 |
1-62931632-C-A | DOCK7 | c.6119+8021G>T | - | IntronicSNV | - | 47/48 |
20-33924273-C-A | UQCC1 | c.573+10694G>T | - | IntronicSNV | - | 7/9 |
16-57065556-C-T | NLRC5 | c.2477+181C>T | - | IntronicSNV | - | 10/47 |
16-53837144-G-T | FTO | c.46-6908G>T | - | IntronicSNV | - | 1/8 |
18-46754064-G-A | DYM | c.1460+29316C>T | - | IntronicSNV | - | 13/16 |
2-169801488-A-G | ABCB11 | c.2344-17T>C | - | IntronicSNV | - | 19/27 |
6-142670955-T-C | ADGRG6 | c.104-17751T>C | - | IntronicSNV | - | 2/24 |
15-89400680-A-G | ACAN | c.4864A>G | p.Thr1622Ala | Missense | 12/16 | - |
19-45359586-C-G | NECTIN2 | c.89-8942C>G | - | IntronicSNV | - | 1/5 |
19-45359586-C-T | NECTIN2 | c.89-8942C>T | - | IntronicSNV | - | 1/5 |
6-142658162-G-T | ADGRG6 | c.103+27381G>T | - | IntronicSNV | - | 2/24 |
20-33925843-C-A | UQCC1 | c.573+9124G>T | - | IntronicSNV | - | 7/9 |
6-142658162-G-A | ADGRG6 | c.103+27381G>A | - | IntronicSNV | - | 2/24 |
16-53839135-T-A | FTO | c.46-4917T>A | - | IntronicSNV | - | 1/8 |
16-53839135-T-G | FTO | c.46-4917T>G | - | IntronicSNV | - | 1/8 |
2-169715702-A-C | NOSTRIN | c.820-320A>C | - | IntronicSNV | - | 11/14 |
16-53839135-T-C | FTO | c.46-4917T>C | - | IntronicSNV | - | 1/8 |
7-44204994-G-A | GCK | c.46-11932C>T | - | IntronicSNV | - | 1/9 |
19-45395714-T-C | TOMM40 | c.339T>C | p.Phe113Phe | Synonymous | 3/10 | - |
16-57007446-T-A | CETP | c.930+24T>A | - | IntronicSNV | - | 9/15 |
1-62926371-A-T | DOCK7 | c.6120-2995T>A | - | IntronicSNV | - | 47/48 |
1-62929892-G-A | DOCK7 | c.6120-6516C>T | - | IntronicSNV | - | 47/48 |
1-62929892-G-T | DOCK7 | c.6120-6516C>A | - | IntronicSNV | - | 47/48 |
1-63105538-T-C | DOCK7 | c.819-3264A>G | - | IntronicSNV | - | 7/48 |
3-141150990-G-A | ZBTB38 | c.1-10241G>A | - | IntronicSNV | - | 7/7 |
3-141150990-G-T | ZBTB38 | c.1-10241G>T | - | IntronicSNV | - | 7/7 |
20-33926103-C-G | UQCC1 | c.573+8864G>C | - | IntronicSNV | - | 7/9 |
19-45186873-G-T | CEACAM19 | c.*111G>T | - | 3-UTRSNV | 8/8 | - |
20-33923001-T-G | UQCC1 | c.573+11966A>C | - | IntronicSNV | - | 7/9 |
2-169783565-T-G | ABCB11 | c.3618+101A>C | - | IntronicSNV | - | 26/27 |
2-169794687-C-T | ABCB11 | c.2611-1744G>A | - | IntronicSNV | - | 21/27 |
2-228006255-A-G | COL4A4 | c.115-1301T>C | - | IntronicSNV | - | 3/47 |
16-53820503-G-A | FTO | c.46-23549G>A | - | IntronicSNV | - | 1/8 |
16-53800568-G-A | FTO | c.46-43484G>A | - | IntronicSNV | - | 1/8 |
16-53822502-T-A | FTO | c.46-21550T>A | - | IntronicSNV | - | 1/8 |
16-57007446-T-G | CETP | c.930+24T>G | - | IntronicSNV | - | 9/15 |
19-45316588-G-T | BCAM | c.586G>T | p.Val196Leu | Missense | 5/15 | - |
8-19822810-C-T | LPL | c.-1-11C>T | - | IntronicSNV | - | 9/9 |
19-45316588-G-A | BCAM | c.586G>A | p.Val196Ile | Missense | 5/15 | - |
12-112007756-C-T | ATXN2 | c.252-14033G>A | - | intron_variant | - | 1/24 |
20-33987818-T-C | UQCC1 | c.25-5819A>G | - | IntronicSNV | - | 1/9 |
20-33987818-T-A | UQCC1 | c.25-5819A>T | - | IntronicSNV | - | 1/9 |
2-169814347-A-T | ABCB11 | c.2343+127T>A | - | IntronicSNV | - | 19/27 |
20-33948919-A-G | UQCC1 | c.464+5441T>C | - | IntronicSNV | - | 6/9 |
13-28495193-G-A | PDX1 | c.406+512G>A | - | IntronicSNV | - | 1/1 |
2-169814347-A-G | ABCB11 | c.2343+127T>C | - | IntronicSNV | - | 19/27 |
15-58726744-G-C | LIPC | c.88+2425G>C | - | IntronicSNV | - | 1/8 |
1-63085266-C-T | DOCK7 | c.1519+305G>A | - | IntronicSNV | - | 13/48 |
15-76295311-A-T | NRG4 | c.104+6230T>A | - | IntronicSNV | - | 3/5 |
2-169805511-A-C | ABCB11 | c.2344-4040T>G | - | IntronicSNV | - | 19/27 |
20-33905326-C-T | UQCC1 | c.574-2758G>A | - | IntronicSNV | - | 7/9 |
6-142735221-G-C | ADGRG6 | c.2458-885G>C | - | IntronicSNV | - | 17/24 |
2-169763148-T-C | G6PC2 | c.441-26T>C | - | IntronicSNV | - | 3/4 |
16-72101525-C-G | HPR | c.5+4366C>G | - | IntronicSNV | - | 1/4 |
20-33909245-G-A | UQCC1 | c.574-6677C>T | - | IntronicSNV | - | 7/9 |
19-45356464-T-A | NECTIN2 | c.88+6594T>A | - | IntronicSNV | - | 1/5 |
2-169803568-C-T | ABCB11 | c.2344-2097G>A | - | IntronicSNV | - | 19/27 |
2-169782353-A-C | ABCB11 | c.3619-1040T>G | - | IntronicSNV | - | 26/27 |
1-109800349-G-A | CELSR2 | c.3311-705G>A | - | IntronicSNV | - | 1/33 |
20-33949282-T-C | UQCC1 | c.464+5078A>G | - | IntronicSNV | - | 6/9 |
6-142720354-G-A | ADGRG6 | c.1484-1268G>A | - | IntronicSNV | - | 9/24 |
5-10699086-C-T | DAP | c.153-15403G>A | - | IntronicSNV | - | 2/3 |
16-56869715-T-A | NUP93 | c.1783-798T>A | - | IntronicSNV | - | 16/21 |
20-33974051-T-A | UQCC1 | c.130-2115A>T | - | IntronicSNV | - | 2/9 |
20-33974051-T-C | UQCC1 | c.130-2115A>G | - | IntronicSNV | - | 2/9 |
1-62960575-T-C | DOCK7 | c.4932-437A>G | - | IntronicSNV | - | 38/48 |
2-169704754-T-A | NOSTRIN | c.397-2840T>A | - | IntronicSNV | - | 7/14 |
19-11214533-T-G | LDLR | c.313+1071T>G | - | IntronicSNV | - | 3/17 |
19-11214533-T-A | LDLR | c.313+1071T>A | - | IntronicSNV | - | 3/17 |
6-142742659-T-C | ADGRG6 | c.3235+1418T>C | - | IntronicSNV | - | 21/24 |
19-45134682-A-C | IGSF23 | c.545+3812A>C | - | IntronicSNV | - | 3/4 |
20-33960799-A-G | UQCC1 | c.406+1188T>C | - | IntronicSNV | - | 5/9 |
2-169777595-C-T | ABCB11 | c.*2537G>A | - | IntergenicSNV | 28/28 | - |
2-169786287-G-A | ABCB11 | c.3411+888C>T | - | IntronicSNV | - | 25/27 |
1-109815252-A-G | CELSR2 | c.8055-10A>G | - | IntronicSNV | - | 29/33 |
16-53803223-G-A | FTO | c.46-40829G>A | - | IntronicSNV | - | 1/8 |
1-62943979-G-A | DOCK7 | c.5416-483C>T | - | IntronicSNV | - | 42/48 |
20-33910406-G-A | UQCC1 | c.574-7838C>T | - | IntronicSNV | - | 7/9 |
6-142717283-C-G | ADGRG6 | c.1341-1467C>G | - | IntronicSNV | - | 8/24 |
7-44189010-C-T | GCK | c.679+349G>A | - | IntronicSNV | - | 6/9 |
7-44189010-C-G | GCK | c.679+349G>C | - | IntronicSNV | - | 6/9 |
10-61469538-T-C | SLC16A9 | c.-338A>G | - | 5_prime_UTR_variant | 1/6 | - |
16-53830491-T-C | FTO | c.46-13561T>C | - | IntronicSNV | - | 1/8 |
2-169794771-A-T | ABCB11 | c.2611-1828T>A | - | IntronicSNV | - | 21/27 |
1-62905893-C-T | USP1 | c.170+185C>T | - | IntronicSNV | - | 2/8 |
1-62906537-G-T | USP1 | c.171-622G>T | - | IntronicSNV | - | 2/8 |
3-141154542-T-C | ZBTB38 | c.1-6689T>C | - | IntronicSNV | - | 7/7 |
6-142655801-T-A | ADGRG6 | c.103+25020T>A | - | IntronicSNV | - | 2/24 |
20-33910581-G-A | UQCC1 | c.574-8013C>T | - | IntronicSNV | - | 7/9 |
8-19819217-A-C | LPL | c.1323-409A>C | - | IntronicSNV | - | 8/9 |
19-45382034-A-G | NECTIN2 | c.*157A>G | - | 3-UTRSNV | 6/6 | - |
20-33958127-C-G | UQCC1 | c.407-3710G>C | - | IntronicSNV | - | 5/9 |
20-33958127-C-A | UQCC1 | c.407-3710G>T | - | IntronicSNV | - | 5/9 |
20-33958127-C-T | UQCC1 | c.407-3710G>A | - | IntronicSNV | - | 5/9 |
1-63096781-C-G | DOCK7 | c.1282+130G>C | - | IntronicSNV | - | 11/48 |
1-62962734-A-G | DOCK7 | c.4672-566T>C | - | IntronicSNV | - | 36/48 |
20-33926268-A-T | UQCC1 | c.573+8699T>A | - | IntronicSNV | - | 7/9 |
19-45255266-T-C | BCL3 | c.410+629T>C | - | IntronicSNV | - | 2/8 |
1-62914978-G-A | USP1 | c.1622+641G>A | - | IntronicSNV | - | 8/8 |
7-151415041-A-G | PRKAG2 | c.467-42318T>C | - | IntronicSNV | - | 3/15 |
1-63013134-A-G | DOCK7 | c.2767-3718T>C | - | IntronicSNV | - | 22/48 |
16-53830055-C-G | FTO | c.46-13997C>G | - | IntronicSNV | - | 1/8 |
1-62996046-C-T | DOCK7 | c.3519-929G>A | - | IntronicSNV | - | 28/48 |
2-169800428-A-G | ABCB11 | c.2610+687T>C | - | IntronicSNV | - | 21/27 |
2-169788474-T-C | ABCB11 | c.3213+413A>G | - | IntronicSNV | - | 24/27 |
19-45302504-G-A | CBLC | c.1363-1134G>A | - | IntronicSNV | - | 9/10 |
2-44058201-G-A | ABCG5 | c.501+707C>T | - | IntronicSNV | - | 4/12 |
16-53826028-T-C | FTO | c.46-18024T>C | - | IntronicSNV | - | 1/8 |
2-169797060-A-G | ABCB11 | c.2610+4055T>C | - | IntronicSNV | - | 21/27 |
3-141156670-C-G | ZBTB38 | c.1-4561C>G | - | IntronicSNV | - | 3/7 |
1-63072265-A-T | DOCK7 | c.1682+12112T>A | - | IntronicSNV | - | 14/48 |
1-63072265-A-C | DOCK7 | c.1682+12112T>G | - | IntronicSNV | - | 14/48 |
16-53819771-G-A | FTO | c.46-24281G>A | - | IntronicSNV | - | 1/8 |
5-176822512-G-T | SLC34A1 | c.1175-1222G>T | - | IntronicSNV | - | 10/12 |
16-56972250-C-T | HERPUD1 | c.429-899C>T | - | IntronicSNV | - | 4/7 |
16-56996211-G-C | CETP | c.118+202G>C | - | IntronicSNV | - | 1/15 |
16-53821125-A-G | FTO | c.46-22927A>G | - | IntronicSNV | - | 1/8 |
20-33909752-T-C | UQCC1 | c.574-7184A>G | - | IntronicSNV | - | 7/9 |
20-33907161-T-C | UQCC1 | c.574-4593A>G | - | IntronicSNV | - | 7/9 |
16-53821125-A-T | FTO | c.46-22927A>T | - | IntronicSNV | - | 1/8 |
2-169794431-C-T | ABCB11 | c.2611-1488G>A | - | IntronicSNV | - | 21/27 |
5-74644706-T-G | HMGCR | c.557-1161T>G | - | IntronicSNV | - | 6/19 |
16-53845169-T-G | FTO | c.123+1040T>G | - | IntronicSNV | - | 2/8 |
19-45355721-C-G | NECTIN2 | c.88+5851C>G | - | IntronicSNV | - | 1/5 |
5-74636484-C-A | HMGCR | c.1-1947C>A | - | IntronicSNV | - | 1/19 |
1-63060311-A-C | DOCK7 | c.1683-8016T>G | - | IntronicSNV | - | 14/48 |
5-176815880-G-C | SLC34A1 | c.936+507G>C | - | IntronicSNV | - | 8/12 |
7-44203912-A-T | GCK | c.46-10850T>A | - | IntronicSNV | - | 1/9 |
7-44189274-T-C | GCK | c.679+85A>G | - | IntronicSNV | - | 6/9 |
1-62945418-A-G | DOCK7 | c.5416-1922T>C | - | IntronicSNV | - | 42/48 |
1-62945418-A-T | DOCK7 | c.5416-1922T>A | - | IntronicSNV | - | 42/48 |
2-169742934-T-C | SPC25 | c.199+2802A>G | - | IntronicSNV | - | 3/6 |
9-107661742-A-C | ABCA1 | c.66+4153T>G | - | IntronicSNV | - | 2/49 |
19-45394969-T-G | TOMM40 | c.274+23T>G | - | IntronicSNV | - | 2/9 |
1-62957199-C-G | DOCK7 | c.5268+1176G>C | - | IntronicSNV | - | 40/48 |
16-53818724-G-A | FTO | c.46-25328G>A | - | IntronicSNV | - | 1/8 |
3-32347704-A-G | CMTM8 | c.148-51161A>G | - | IntronicSNV | - | 1/3 |
7-44217126-C-T | GCK | c.45+11382G>A | - | IntronicSNV | - | 1/9 |
3-141148419-G-A | ZBTB38 | c.1-12812G>A | - | IntronicSNV | - | 7/7 |
20-33983485-A-G | UQCC1 | c.25-1486T>C | - | IntronicSNV | - | 1/9 |
6-142663177-T-C | ADGRG6 | c.104-25529T>C | - | IntronicSNV | - | 2/24 |
15-58742418-G-A | LIPC | c.88+18099G>A | - | IntronicSNV | - | 1/8 |
16-53800754-G-A | FTO | c.46-43298G>A | - | IntronicSNV | - | 1/8 |
8-19808030-G-A | LPL | c.250-1250G>A | - | IntronicSNV | - | 2/9 |
19-45396665-G-T | TOMM40 | c.436-372G>T | - | IntronicSNV | - | 4/9 |
19-45396665-G-A | TOMM40 | c.436-372G>A | - | IntronicSNV | - | 4/9 |
2-169743792-C-T | SPC25 | c.199+1944G>A | - | IntronicSNV | - | 3/6 |
16-56818259-A-C | NUP93 | c.298-14129A>C | - | IntronicSNV | - | 3/21 |
20-33966325-C-T | UQCC1 | c.333+3396G>A | - | IntronicSNV | - | 4/9 |
6-126666416-C-G | CENPW | c.127-935C>G | - | IntronicSNV | - | 1/2 |
20-33996433-T-C | UQCC1 | c.24+3310A>G | - | IntronicSNV | - | 1/9 |
16-56826362-A-C | NUP93 | c.298-6026A>C | - | IntronicSNV | - | 3/21 |
19-45377334-G-A | NECTIN2 | c.893+44G>A | - | IntronicSNV | - | 4/5 |
7-151415256-C-T | PRKAG2 | c.467-42533G>A | - | IntronicSNV | - | 3/15 |
15-89397827-A-G | ACAN | c.2267-256A>G | - | IntronicSNV | - | 11/15 |
2-169798439-T-A | ABCB11 | c.2610+2676A>T | - | IntronicSNV | - | 21/27 |
2-169798439-T-C | ABCB11 | c.2610+2676A>G | - | IntronicSNV | - | 21/27 |
20-33986549-C-T | UQCC1 | c.25-4550G>A | - | IntronicSNV | - | 1/9 |
20-33986549-C-G | UQCC1 | c.25-4550G>C | - | IntronicSNV | - | 1/9 |
6-142641606-T-C | ADGRG6 | c.103+10825T>C | - | IntronicSNV | - | 2/24 |
2-169790935-G-A | ABCB11 | c.3056+759C>T | - | IntronicSNV | - | 23/27 |
2-169708308-A-T | NOSTRIN | c.621+394A>T | - | IntronicSNV | - | 9/14 |
16-67977348-C-T | LCAT | c.155-233G>A | - | IntronicSNV | - | 1/5 |
1-63095711-C-T | DOCK7 | c.1282+1200G>A | - | IntronicSNV | - | 11/48 |
1-63120371-C-T | DOCK7 | c.145-541G>A | - | IntronicSNV | - | 2/48 |
16-56966554-T-C | HERPUD1 | c.147+251T>C | - | IntronicSNV | - | 1/7 |
3-141096755-C-T | ZBTB38 | c.-479-3512C>T | - | intron_variant | - | 3/7 |
1-62980410-T-C | DOCK7 | c.3844-841A>G | - | IntronicSNV | - | 30/48 |
2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
19-45447221-G-A | APOC4 | c.77-785G>A | - | IntronicSNV | - | 1/2 |
19-11209629-G-A | LDLR | c.68-1270G>A | - | IntronicSNV | - | 1/17 |
20-33994265-G-T | UQCC1 | c.24+5478C>A | - | IntronicSNV | - | 1/9 |
16-57001216-C-T | CETP | c.234-2082C>T | - | IntronicSNV | - | 2/15 |
16-53807764-A-C | FTO | c.46-36288A>C | - | IntronicSNV | - | 1/8 |
16-53802494-C-T | FTO | c.46-41558C>T | - | IntronicSNV | - | 1/8 |
2-169710607-G-A | NOSTRIN | c.622-1255G>A | - | IntronicSNV | - | 9/14 |
1-63098641-A-C | DOCK7 | c.1116+528T>G | - | IntronicSNV | - | 10/48 |
1-63010871-T-C | DOCK7 | c.2767-1455A>G | - | IntronicSNV | - | 22/48 |
16-56945049-C-A | SLC12A3 | c.2952-2127C>A | - | IntronicSNV | - | 25/25 |
3-141140968-C-T | ZBTB38 | c.-1+18095C>T | - | intron_variant | - | 7/7 |
2-169796772-A-G | ABCB11 | c.2611-3829T>C | - | IntronicSNV | - | 21/27 |
8-19823192-T-C | LPL | c.*371T>C | - | 3-UTRSNV | 10/10 | - |
17-41926126-C-T | CD300LG | c.244C>T | p.Arg82Cys | Missense | 2/7 | - |
20-33942685-G-A | UQCC1 | c.465-7610C>T | - | IntronicSNV | - | 6/9 |
16-57088865-C-T | NLRC5 | c.3597-79C>T | - | IntronicSNV | - | 24/47 |
16-53812433-T-C | FTO | c.46-31619T>C | - | IntronicSNV | - | 1/8 |
20-33971085-A-G | UQCC1 | c.225+756T>C | - | IntronicSNV | - | 3/9 |
3-141160765-A-G | ZBTB38 | c.1-466A>G | - | IntronicSNV | 4/8 | - |
16-53848561-A-G | FTO | c.123+4432A>G | - | IntronicSNV | - | 2/8 |
2-169782880-A-T | ABCB11 | c.3618+786T>A | - | IntronicSNV | - | 26/27 |
16-53820066-T-C | FTO | c.46-23986T>C | - | IntronicSNV | - | 1/8 |
20-33994265-G-A | UQCC1 | c.24+5478C>T | - | IntronicSNV | - | 1/9 |
1-63045506-A-C | DOCK7 | c.1872-869T>G | - | IntronicSNV | - | 16/48 |
16-53807764-A-G | FTO | c.46-36288A>G | - | IntronicSNV | - | 1/8 |
20-33947730-T-C | UQCC1 | c.464+6630A>G | - | IntronicSNV | - | 6/9 |
8-19815852-T-C | LPL | c.1019-919T>C | - | IntronicSNV | - | 6/9 |
16-56998918-A-G | CETP | c.233+1882A>G | - | IntronicSNV | - | 2/15 |
16-56998918-A-C | CETP | c.233+1882A>C | - | IntronicSNV | - | 2/15 |
3-141121814-A-C | ZBTB38 | c.-105-955A>C | - | intron_variant | - | 6/7 |
16-57016092-G-C | CETP | c.1264G>C | p.Val422Leu | Missense | 14/16 | - |
16-53825488-C-T | FTO | c.46-18564C>T | - | IntronicSNV | - | 1/8 |
20-33971085-A-T | UQCC1 | c.225+756T>A | - | IntronicSNV | - | 3/9 |
8-19823674-C-G | LPL | c.*853C>G | - | 3-UTRSNV | 10/10 | - |
1-62911341-T-C | USP1 | c.1249+241T>C | - | IntronicSNV | - | 6/8 |
20-33972948-G-A | UQCC1 | c.130-1012C>T | - | IntronicSNV | - | 2/9 |
17-74283669-A-G | QRICH2 | c.3398+212T>C | - | IntronicSNV | - | 6/18 |
20-33970462-A-G | UQCC1 | c.226-634T>C | - | IntronicSNV | - | 3/9 |
1-6279370-G-C | RNF207 | c.1808G>C | p.Gly603Ala | Missense | 18/18 | - |
11-116692293-C-T | APOA4 | c.481G>A | p.Ala161Thr | Missense | 3/3 | - |
11-116692293-C-A | APOA4 | c.481G>T | p.Ala161Ser | Missense | 3/3 | - |
19-45398633-G-C | TOMM40 | c.643+1310G>C | - | IntronicSNV | - | 6/9 |
16-53816752-A-G | FTO | c.46-27300A>G | - | IntronicSNV | - | 1/8 |
2-169788039-A-G | ABCB11 | c.3214-667T>C | - | IntronicSNV | - | 24/27 |
15-58741177-C-T | LIPC | c.88+16858C>T | - | IntronicSNV | - | 1/8 |
16-53801549-C-T | FTO | c.46-42503C>T | - | IntronicSNV | - | 1/8 |
2-169801905-T-C | ABCB11 | c.2344-434A>G | - | IntronicSNV | - | 19/27 |
1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
16-56969148-G-A | HERPUD1 | c.149G>A | p.Arg50His | Missense | 2/8 | - |
7-44219338-A-G | GCK | c.45+9170T>C | - | IntronicSNV | - | 1/9 |
1-63015199-A-T | DOCK7 | c.2766+3204T>A | - | IntronicSNV | - | 22/48 |
1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
2-169792421-A-G | ABCB11 | c.2814+319T>C | - | IntronicSNV | - | 22/27 |
2-169759903-G-A | G6PC2 | c.328+839G>A | - | IntronicSNV | - | 2/4 |
19-45397229-G-A | TOMM40 | c.549G>A | p.Ser183Ser | Synonymous | 6/10 | - |
20-33939973-G-C | UQCC1 | c.465-4898C>G | - | IntronicSNV | - | 6/9 |
1-63001120-A-T | DOCK7 | c.3518+44T>A | - | IntronicSNV | - | 28/48 |
2-169798619-T-C | ABCB11 | c.2610+2496A>G | - | IntronicSNV | - | 21/27 |
6-126661154-T-C | CENPW | c.1-266T>C | - | IntergenicSNV | 1/3 | - |
15-76158983-G-A | UBE2Q2 | c.388-2309G>A | - | IntronicSNV | - | 3/12 |
2-169780818-A-T | ABCB11 | c.3765+349T>A | - | IntronicSNV | - | 27/27 |
19-45179631-C-G | CEACAM19 | c.513C>G | p.Ala171Ala | Synonymous | 3/8 | - |
20-33960486-T-C | UQCC1 | c.406+1501A>G | - | IntronicSNV | - | 5/9 |
19-11275394-C-G | KANK2 | c.*1840G>C | - | 3-UTRSNV | 11/11 | - |
19-45354238-G-A | NECTIN2 | c.88+4368G>A | - | IntronicSNV | - | 1/5 |
19-45354238-G-C | NECTIN2 | c.88+4368G>C | - | IntronicSNV | - | 1/5 |
8-19803093-C-T | LPL | c.89-2598C>T | - | IntronicSNV | - | 1/9 |
20-33997734-G-A | UQCC1 | c.24+2009C>T | - | IntronicSNV | - | 1/9 |
20-33997734-G-C | UQCC1 | c.24+2009C>G | - | IntronicSNV | - | 1/9 |
2-169780818-A-G | ABCB11 | c.3765+349T>C | - | IntronicSNV | - | 27/27 |
19-45179631-C-T | CEACAM19 | c.513C>T | p.Ala171Ala | Synonymous | 3/8 | - |
15-89391014-G-A | ACAN | c.1605-128G>A | - | IntronicSNV | - | 8/15 |
5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
19-11275394-C-T | KANK2 | c.*1840G>A | - | 3-UTRSNV | 11/11 | - |
19-11275394-C-A | KANK2 | c.*1840G>T | - | 3-UTRSNV | 11/11 | - |
1-62936912-T-G | DOCK7 | c.6119+2741A>C | - | IntronicSNV | - | 47/48 |
1-62936912-T-C | DOCK7 | c.6119+2741A>G | - | IntronicSNV | - | 47/48 |
1-62936912-T-A | DOCK7 | c.6119+2741A>T | - | IntronicSNV | - | 47/48 |
19-45354238-G-T | NECTIN2 | c.88+4368G>T | - | IntronicSNV | - | 1/5 |
5-74826735-G-A | POLK | c.1-16113G>A | - | IntronicSNV | - | 1/14 |
5-74826735-G-C | POLK | c.1-16113G>C | - | IntronicSNV | - | 1/14 |
11-67024534-C-T | KDM2A | c.*2008C>T | - | 3-UTRSNV | 21/21 | - |
7-151414329-T-A | PRKAG2 | c.467-41606A>T | - | IntronicSNV | - | 3/15 |
7-151414329-T-C | PRKAG2 | c.467-41606A>G | - | IntronicSNV | - | 3/15 |
20-33976823-C-T | UQCC1 | c.130-4887G>A | - | IntronicSNV | - | 2/9 |
15-58740094-C-T | LIPC | c.88+15775C>T | - | IntronicSNV | - | 1/8 |
16-56874184-G-A | NUP93 | c.2220+668G>A | - | IntronicSNV | - | 20/21 |
1-63086001-T-A | DOCK7 | c.1426-337A>T | - | IntronicSNV | - | 12/48 |
1-63002551-A-G | DOCK7 | c.3378+1011T>C | - | IntronicSNV | - | 27/48 |
2-169800441-A-T | ABCB11 | c.2610+674T>A | - | IntronicSNV | - | 21/27 |
5-74748505-C-T | COL4A3BP | c.348+6385G>A | - | IntronicSNV | - | 3/17 |
2-169807482-C-G | ABCB11 | c.2344-6011G>C | - | IntronicSNV | - | 19/27 |
16-53830465-A-G | FTO | c.46-13587A>G | - | IntronicSNV | - | 1/8 |
5-74655726-C-T | HMGCR | c.2458-84C>T | - | IntronicSNV | - | 18/19 |
8-19823674-C-T | LPL | c.*853C>T | - | 3-UTRSNV | 10/10 | - |
1-63026429-T-G | DOCK7 | c.2199+859A>C | - | IntronicSNV | - | 19/48 |
16-57008287-A-G | CETP | c.931-726A>G | - | IntronicSNV | - | 9/15 |
16-57009769-T-A | CETP | c.981+706T>A | - | IntronicSNV | - | 10/15 |
19-45376284-C-T | NECTIN2 | c.775+878C>T | - | IntronicSNV | - | 3/5 |
1-62996838-C-G | DOCK7 | c.3519-1721G>C | - | IntronicSNV | - | 28/48 |
1-62921586-T-C | DOCK7 | c.6288-459A>G | - | IntronicSNV | - | 48/48 |
16-57016092-G-A | CETP | c.1264G>A | p.Val422Ile | Missense | 14/16 | - |
16-53799847-G-A | FTO | c.46-44205G>A | - | IntronicSNV | - | 1/8 |
3-141156434-A-G | ZBTB38 | c.1-4797A>G | - | IntronicSNV | - | 3/7 |
2-44069772-G-A | ABCG8 | c.64-1874G>A | - | IntronicSNV | - | 1/12 |
20-33912180-A-T | UQCC1 | c.574-9612T>A | - | IntronicSNV | - | 7/9 |
1-62949960-T-C | DOCK7 | c.5415+3109A>G | - | IntronicSNV | - | 42/48 |
2-169807362-T-C | ABCB11 | c.2344-5891A>G | - | IntronicSNV | - | 19/27 |
2-169797304-A-G | ABCB11 | c.2610+3811T>C | - | IntronicSNV | - | 21/27 |
11-116701354-G-A | APOC3 | c.55+1G>A | - | IntronicSNV | - | 2/3 |
16-53824226-A-G | FTO | c.46-19826A>G | - | IntronicSNV | - | 1/8 |
3-170733076-G-A | SLC2A2 | c.109-556C>T | - | IntronicSNV | - | 2/10 |
16-53799507-G-A | FTO | c.46-44545G>A | - | IntronicSNV | - | 1/8 |
16-57014411-T-C | CETP | c.1147-659T>C | - | IntronicSNV | - | 11/15 |
17-59465697-T-C | BCAS3 | c.2594-3641T>C | - | IntronicSNV | - | 23/23 |
2-169783209-A-T | ABCB11 | c.3618+457T>A | - | IntronicSNV | - | 26/27 |
2-169811224-T-C | ABCB11 | c.2343+3250A>G | - | IntronicSNV | - | 19/27 |
3-170717521-T-A | SLC2A2 | c.1069-566A>T | - | IntronicSNV | - | 8/10 |
16-57005479-C-A | CETP | c.658+186C>A | - | IntronicSNV | - | 7/15 |
5-74689249-T-C | COL4A3BP | c.1189-3737A>G | - | IntronicSNV | - | 11/17 |
2-169783209-A-G | ABCB11 | c.3618+457T>C | - | IntronicSNV | - | 26/27 |
1-62949034-A-G | DOCK7 | c.5415+4035T>C | - | IntronicSNV | - | 42/48 |
16-53837342-A-G | FTO | c.46-6710A>G | - | IntronicSNV | - | 1/8 |
1-62970184-T-C | DOCK7 | c.4671+117A>G | - | IntronicSNV | - | 36/48 |
5-176817143-G-A | SLC34A1 | c.936+1770G>A | - | IntronicSNV | - | 8/12 |
5-176817143-G-T | SLC34A1 | c.936+1770G>T | - | IntronicSNV | - | 8/12 |
16-57008508-A-T | CETP | c.931-505A>T | - | IntronicSNV | - | 9/15 |
16-57008508-A-C | CETP | c.931-505A>C | - | IntronicSNV | - | 9/15 |
19-11210254-G-C | LDLR | c.68-645G>C | - | IntronicSNV | - | 1/17 |
2-169807713-C-T | ABCB11 | c.2344-6242G>A | - | IntronicSNV | - | 19/27 |
14-23863802-G-A | MYH6 | c.2430-270C>T | - | IntronicSNV | - | 20/38 |
7-44226101-C-A | GCK | c.45+2407G>T | - | IntronicSNV | - | 1/9 |
20-33923566-A-G | UQCC1 | c.573+11401T>C | - | IntronicSNV | - | 7/9 |
16-56975277-A-C | HERPUD1 | c.903-767A>C | - | IntronicSNV | - | 6/7 |
16-57089786-C-T | NLRC5 | c.3746+355C>T | - | IntronicSNV | - | 26/47 |
7-44226101-C-T | GCK | c.45+2407G>A | - | IntronicSNV | - | 1/9 |
16-57012699-A-G | CETP | c.1146+532A>G | - | IntronicSNV | - | 11/15 |
2-21232195-G-A | APOB | c.7545C>T | p.Thr2515Thr | Synonymous | 26/29 | - |
1-63112320-C-G | DOCK7 | c.818+1042G>C | - | IntronicSNV | - | 7/48 |
16-56814325-A-T | NUP93 | c.298-18063A>T | - | IntronicSNV | - | 3/21 |
6-142679572-G-A | ADGRG6 | c.104-9134G>A | - | IntronicSNV | - | 2/24 |
20-33961845-C-A | UQCC1 | c.406+142G>T | - | IntronicSNV | - | 5/9 |
20-33974163-T-A | UQCC1 | c.130-2227A>T | - | IntronicSNV | - | 2/9 |
2-169783039-G-T | ABCB11 | c.3618+627C>A | - | IntronicSNV | - | 26/27 |
2-169783039-G-C | ABCB11 | c.3618+627C>G | - | IntronicSNV | - | 26/27 |
1-62921422-T-C | DOCK7 | c.6288-295A>G | - | IntronicSNV | - | 48/48 |
2-44074431-C-A | ABCG8 | c.322+981C>A | - | IntronicSNV | - | 3/12 |
2-44081627-T-G | ABCG8 | c.964+1620T>G | - | IntronicSNV | - | 6/12 |
13-28498265-C-G | PDX1 | c.407-128C>G | - | IntronicSNV | - | 1/1 |
1-63007228-G-A | DOCK7 | c.2952+1051C>T | - | IntronicSNV | - | 24/48 |
8-19810787-C-A | LPL | c.430-34C>A | - | IntronicSNV | - | 3/9 |
1-62980607-G-A | DOCK7 | c.3844-1038C>T | - | IntronicSNV | - | 30/48 |
3-141125186-A-G | ZBTB38 | c.-1+2313A>G | - | intron_variant | - | 7/7 |
1-62969431-G-A | DOCK7 | c.4671+870C>T | - | IntronicSNV | - | 36/48 |
1-63041800-T-C | DOCK7 | c.2112+1133A>G | - | IntronicSNV | - | 18/48 |
1-63041800-T-G | DOCK7 | c.2112+1133A>C | - | IntronicSNV | - | 18/48 |
6-142655490-A-C | ADGRG6 | c.103+24709A>C | - | IntronicSNV | - | 2/24 |
1-63041086-T-C | DOCK7 | c.2112+1847A>G | - | IntronicSNV | - | 18/48 |
6-142735816-A-G | ADGRG6 | c.2458-290A>G | - | IntronicSNV | - | 17/24 |
2-169738539-T-A | SPC25 | c.200-4645A>T | - | IntronicSNV | - | 3/6 |
16-53819877-C-T | FTO | c.46-24175C>T | - | IntronicSNV | - | 1/8 |
16-53819877-C-A | FTO | c.46-24175C>A | - | IntronicSNV | - | 1/8 |
8-19813180-G-A | LPL | c.776-172G>A | - | IntronicSNV | - | 5/9 |
3-141133450-G-A | ZBTB38 | c.-1+10577G>A | - | intron_variant | - | 7/7 |
1-63034363-A-C | DOCK7 | c.2113-6989T>G | - | IntronicSNV | - | 18/48 |
8-19811967-C-T | LPL | c.775+103C>T | - | IntronicSNV | - | 5/9 |
20-33969530-C-G | UQCC1 | c.333+191G>C | - | IntronicSNV | - | 4/9 |
1-63039533-C-T | DOCK7 | c.2112+3400G>A | - | IntronicSNV | - | 18/48 |
16-56843443-G-A | NUP93 | c.489+3899G>A | - | IntronicSNV | - | 5/21 |
1-63103217-A-G | DOCK7 | c.819-943T>C | - | IntronicSNV | - | 7/48 |
19-45396144-C-T | TOMM40 | c.393C>T | p.Phe131Phe | Synonymous | 4/10 | - |
16-56848871-G-A | NUP93 | c.490-3705G>A | - | IntronicSNV | - | 5/21 |
16-56942921-A-T | SLC12A3 | c.2952-4255A>T | - | IntronicSNV | - | 25/25 |
2-169794283-G-A | ABCB11 | c.2611-1340C>T | - | IntronicSNV | - | 21/27 |
7-44265179-G-A | CAMK2B | c.947-4679C>T | - | IntronicSNV | - | 12/15 |
3-141105570-A-G | ZBTB38 | c.-416-144A>G | - | intron_variant | - | 4/7 |
2-169796187-T-C | ABCB11 | c.2611-3244A>G | - | IntronicSNV | - | 21/27 |
2-169782481-A-T | ABCB11 | c.3619-1168T>A | - | IntronicSNV | - | 26/27 |
1-63108374-A-G | DOCK7 | c.818+4988T>C | - | IntronicSNV | - | 7/48 |
16-67327250-G-A | KCTD19 | c.2218+197C>T | - | IntronicSNV | - | 12/15 |
2-169808522-A-T | ABCB11 | c.2343+5952T>A | - | IntronicSNV | - | 19/27 |
16-72097827-C-T | HPR | c.5+668C>T | - | IntronicSNV | - | 1/4 |
16-72097827-C-A | HPR | c.5+668C>A | - | IntronicSNV | - | 1/4 |
20-33914701-T-C | UQCC1 | c.574-12133A>G | - | IntronicSNV | - | 7/9 |
6-142652416-T-C | ADGRG6 | c.103+21635T>C | - | IntronicSNV | - | 2/24 |
5-74787310-T-C | COL4A3BP | c.231+14497A>G | - | IntronicSNV | - | 2/17 |
2-169796187-T-A | ABCB11 | c.2611-3244A>T | - | IntronicSNV | - | 21/27 |
2-169791438-A-G | ABCB11 | c.3056+256T>C | - | IntronicSNV | - | 23/27 |
1-109800321-C-T | CELSR2 | c.3311-733C>T | - | IntronicSNV | - | 1/33 |
16-53818834-A-G | FTO | c.46-25218A>G | - | IntronicSNV | - | 1/8 |
20-33943281-C-T | UQCC1 | c.465-8206G>A | - | IntronicSNV | - | 6/9 |
16-56996158-T-C | CETP | c.118+149T>C | - | IntronicSNV | - | 1/15 |
1-62969402-G-C | DOCK7 | c.4671+899C>G | - | IntronicSNV | - | 36/48 |
19-11209722-C-A | LDLR | c.68-1177C>A | - | IntronicSNV | - | 1/17 |
2-169780366-T-A | ABCB11 | c.3766-34A>T | - | IntronicSNV | - | 27/27 |
20-44538484-G-T | PLTP | c.329+97C>A | - | IntronicSNV | - | 4/15 |
1-63031616-A-C | DOCK7 | c.2113-4242T>G | - | IntronicSNV | - | 18/48 |
1-62969402-G-A | DOCK7 | c.4671+899C>T | - | IntronicSNV | - | 36/48 |
3-141102833-G-A | ZBTB38 | c.-417+2504G>A | - | intron_variant | - | 4/7 |
6-142636740-C-G | ADGRG6 | c.103+5959C>G | - | IntronicSNV | - | 2/24 |
13-28499962-G-A | PDX1 | c.*1124G>A | - | 3-UTRSNV | 2/2 | - |
6-142636740-C-T | ADGRG6 | c.103+5959C>T | - | IntronicSNV | - | 2/24 |
1-63029433-A-G | DOCK7 | c.2113-2059T>C | - | IntronicSNV | - | 18/48 |
2-44078853-G-A | ABCG8 | c.453G>A | p.Val151Val | Synonymous | 4/13 | - |
20-33985568-C-T | UQCC1 | c.25-3569G>A | - | IntronicSNV | - | 1/9 |
7-44219338-A-T | GCK | c.45+9170T>A | - | IntronicSNV | - | 1/9 |
2-44078853-G-T | ABCG8 | c.453G>T | p.Val151Val | Synonymous | 4/13 | - |
1-62957758-T-C | DOCK7 | c.5268+617A>G | - | IntronicSNV | - | 40/48 |
20-33933846-T-C | UQCC1 | c.573+1121A>G | - | IntronicSNV | - | 7/9 |
16-57009932-C-T | CETP | c.981+869C>T | - | IntronicSNV | - | 10/15 |
20-33977349-G-A | UQCC1 | c.129+4546C>T | - | IntronicSNV | - | 2/9 |
7-72857049-A-G | BAZ1B | c.4094+6T>C | - | IntronicSNV | - | 18/19 |
16-53798622-G-T | FTO | c.46-45430G>T | - | IntronicSNV | - | 1/8 |
19-45396219-C-T | TOMM40 | c.435+33C>T | - | IntronicSNV | - | 4/9 |
19-45359706-G-A | NECTIN2 | c.89-8822G>A | - | IntronicSNV | - | 1/5 |
6-142672301-G-A | ADGRG6 | c.104-16405G>A | - | IntronicSNV | - | 2/24 |
3-141159281-G-A | ZBTB38 | c.1-1950G>A | - | IntronicSNV | - | 4/7 |
16-56999258-A-C | CETP | c.233+2222A>C | - | IntronicSNV | - | 2/15 |
8-19821782-T-G | LPL | c.-1-1039T>G | - | IntronicSNV | - | 9/9 |
20-33913681-A-C | UQCC1 | c.574-11113T>G | - | IntronicSNV | - | 7/9 |
20-33999267-A-G | UQCC1 | c.24+476T>C | - | IntronicSNV | - | 1/9 |
6-142737504-G-A | ADGRG6 | c.2854+303G>A | - | IntronicSNV | - | 19/24 |
6-142670862-C-A | ADGRG6 | c.104-17844C>A | - | IntronicSNV | - | 2/24 |
3-141076084-T-C | ZBTB38 | c.-738-11379T>C | - | intron_variant | - | 1/7 |
1-63006842-A-C | DOCK7 | c.2953-1279T>G | - | IntronicSNV | - | 24/48 |
20-33947285-C-G | UQCC1 | c.464+7075G>C | - | IntronicSNV | - | 6/9 |
1-62957030-G-A | DOCK7 | c.5268+1345C>T | - | IntronicSNV | - | 40/48 |
2-44054991-G-A | ABCG5 | c.634+131C>T | - | IntronicSNV | - | 5/12 |
8-19820933-A-C | LPL | c.1427+1203A>C | - | IntronicSNV | - | 9/9 |
6-142750392-A-G | ADGRG6 | c.3236-8179A>G | - | IntronicSNV | - | 21/24 |
2-44054991-G-C | ABCG5 | c.634+131C>G | - | IntronicSNV | - | 5/12 |
8-19815556-A-G | LPL | c.1019-1215A>G | - | IntronicSNV | - | 6/9 |
1-62980161-A-G | DOCK7 | c.3844-592T>C | - | IntronicSNV | - | 30/48 |
8-19815556-A-T | LPL | c.1019-1215A>T | - | IntronicSNV | - | 6/9 |
1-63111069-G-T | DOCK7 | c.818+2293C>A | - | IntronicSNV | - | 7/48 |
15-58741384-C-T | LIPC | c.88+17065C>T | - | IntronicSNV | - | 1/8 |
1-63111069-G-A | DOCK7 | c.818+2293C>T | - | IntronicSNV | - | 7/48 |
11-67184725-G-A | CARNS1 | c.-366-153G>A | - | intron_variant | - | 1/8 |
3-170732599-G-A | SLC2A2 | c.109-79C>T | - | IntronicSNV | - | 2/10 |
6-160985526-G-A | LPA | c.4632-6923C>T | - | IntronicSNV | - | 28/38 |
6-142661114-T-A | ADGRG6 | c.104-27592T>A | - | IntronicSNV | - | 2/24 |
2-169789306-T-A | ABCB11 | c.3057-263A>T | - | IntronicSNV | - | 23/27 |
17-53364788-C-A | HLF | c.451+19341C>A | - | IntronicSNV | - | 2/3 |
17-53364788-C-G | HLF | c.451+19341C>G | - | IntronicSNV | - | 2/3 |
1-62907595-A-G | USP1 | c.292-271A>G | - | IntronicSNV | - | 3/8 |
1-62984897-C-T | DOCK7 | c.3844-5328G>A | - | IntronicSNV | - | 30/48 |
7-44245853-A-T | YKT6 | c.188-131A>T | - | IntronicSNV | - | 2/6 |
2-27741105-A-G | GCKR | c.1423-550A>G | - | IntronicSNV | - | 16/18 |
2-169802594-C-G | ABCB11 | c.2344-1123G>C | - | IntronicSNV | - | 19/27 |
2-169802594-C-T | ABCB11 | c.2344-1123G>A | - | IntronicSNV | - | 19/27 |
1-63057136-T-C | DOCK7 | c.1683-4841A>G | - | IntronicSNV | - | 14/48 |
1-62924448-C-T | DOCK7 | c.6120-1072G>A | - | IntronicSNV | - | 47/48 |
1-63057136-T-A | DOCK7 | c.1683-4841A>T | - | IntronicSNV | - | 14/48 |
5-74651084-A-G | HMGCR | c.1722+45A>G | - | IntronicSNV | - | 13/19 |
15-89394600-T-C | ACAN | c.2027-425T>C | - | IntronicSNV | - | 10/15 |
16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
2-169739098-G-A | SPC25 | c.200-5204C>T | - | IntronicSNV | - | 3/6 |
8-19823648-A-T | LPL | c.*827A>T | - | 3-UTRSNV | 10/10 | - |
20-33970527-A-T | UQCC1 | c.226-699T>A | - | IntronicSNV | - | 3/9 |
16-53797908-C-G | FTO | c.46-46144C>G | - | IntronicSNV | - | 1/8 |
1-63081919-A-T | DOCK7 | c.1682+2458T>A | - | IntronicSNV | - | 14/48 |
1-63013396-C-T | DOCK7 | c.2767-3980G>A | - | IntronicSNV | - | 22/48 |
14-23861811-A-G | MYH6 | c.3302T>C | p.Val1101Ala | Missense | 25/39 | - |
16-53799985-T-C | FTO | c.46-44067T>C | - | IntronicSNV | - | 1/8 |
16-53799985-T-A | FTO | c.46-44067T>A | - | IntronicSNV | - | 1/8 |
8-19808131-G-A | LPL | c.250-1149G>A | - | IntronicSNV | - | 2/9 |
20-33910896-T-C | UQCC1 | c.574-8328A>G | - | IntronicSNV | - | 7/9 |
20-33970527-A-G | UQCC1 | c.226-699T>C | - | IntronicSNV | - | 3/9 |
5-176815766-G-C | SLC34A1 | c.936+393G>C | - | IntronicSNV | - | 8/12 |
15-89396583-G-A | ACAN | c.2266+1319G>A | - | IntronicSNV | - | 11/15 |
1-63042126-A-G | DOCK7 | c.2112+807T>C | - | IntronicSNV | - | 18/48 |
6-126669479-C-A | CENPW | c.241-133C>A | - | IntronicSNV | - | 2/2 |
16-57014610-T-A | CETP | c.1147-460T>A | - | IntronicSNV | - | 11/15 |
16-57014610-T-C | CETP | c.1147-460T>C | - | IntronicSNV | - | 11/15 |
1-63081919-A-G | DOCK7 | c.1682+2458T>C | - | IntronicSNV | - | 14/48 |
3-141094209-G-A | ZBTB38 | c.-480+5421G>A | - | intron_variant | - | 3/7 |
2-169780961-T-C | ABCB11 | c.3765+206A>G | - | IntronicSNV | - | 27/27 |
16-53804340-C-T | FTO | c.46-39712C>T | - | IntronicSNV | - | 1/8 |
18-46837578-G-C | DYM | c.763+20656C>G | - | IntronicSNV | - | 8/16 |
16-53818167-T-C | FTO | c.46-25885T>C | - | IntronicSNV | - | 1/8 |
16-53815161-T-A | FTO | c.46-28891T>A | - | IntronicSNV | - | 1/8 |
16-53809123-C-T | FTO | c.46-34929C>T | - | IntronicSNV | - | 1/8 |
14-23863802-G-T | MYH6 | c.2430-270C>A | - | IntronicSNV | - | 20/38 |
2-169810416-T-C | ABCB11 | c.2343+4058A>G | - | IntronicSNV | - | 19/27 |
1-109776285-T-C | SARS | c.748-1547T>C | - | IntronicSNV | - | 6/10 |
20-33951799-G-A | UQCC1 | c.464+2561C>T | - | IntronicSNV | - | 6/9 |
15-76158983-G-T | UBE2Q2 | c.388-2309G>T | - | IntronicSNV | - | 3/12 |
2-44074431-C-T | ABCG8 | c.322+981C>T | - | IntronicSNV | - | 3/12 |
3-1152436-C-T | CNTN6 | c.-83+17623C>T | - | intron_variant | - | 1/22 |
15-58737341-T-A | LIPC | c.88+13022T>A | - | IntronicSNV | - | 1/8 |
15-58737341-T-G | LIPC | c.88+13022T>G | - | IntronicSNV | - | 1/8 |
16-56900931-C-T | SLC12A3 | c.283-51C>T | - | IntronicSNV | - | 1/25 |
1-62976751-G-A | DOCK7 | c.4190-407C>T | - | IntronicSNV | - | 32/48 |
1-63112389-A-G | DOCK7 | c.818+973T>C | - | IntronicSNV | - | 7/48 |
2-169758316-G-A | G6PC2 | c.218+257G>A | - | IntronicSNV | - | 1/4 |
5-74877803-T-C | POLK | c.934+530T>C | - | IntronicSNV | - | 7/14 |
16-53840525-C-G | FTO | c.46-3527C>G | - | IntronicSNV | - | 1/8 |
16-57007451-G-A | CETP | c.930+29G>A | - | IntronicSNV | - | 9/15 |
16-56819919-C-T | NUP93 | c.298-12469C>T | - | IntronicSNV | - | 3/21 |
20-33976474-G-C | UQCC1 | c.130-4538C>G | - | IntronicSNV | - | 2/9 |
1-62960101-A-G | DOCK7 | c.4969T>C | p.Leu1657Leu | Synonymous | 39/49 | - |
20-33976474-G-A | UQCC1 | c.130-4538C>T | - | IntronicSNV | - | 2/9 |
16-57006378-A-G | CETP | c.750+383A>G | - | IntronicSNV | - | 8/15 |
16-56846804-C-G | NUP93 | c.490-5772C>G | - | IntronicSNV | - | 5/21 |
2-44087024-C-G | ABCG8 | c.964+7017C>G | - | IntronicSNV | - | 6/12 |
16-56846804-C-T | NUP93 | c.490-5772C>T | - | IntronicSNV | - | 5/21 |
2-169810416-T-G | ABCB11 | c.2343+4058A>C | - | IntronicSNV | - | 19/27 |
6-127454893-G-A | RSPO3 | c.97+14459G>A | - | IntronicSNV | - | 1/4 |
2-44087024-C-A | ABCG8 | c.964+7017C>A | - | IntronicSNV | - | 6/12 |
6-142652416-T-A | ADGRG6 | c.103+21635T>A | - | IntronicSNV | - | 2/24 |
1-63027024-C-A | DOCK7 | c.2199+264G>T | - | IntronicSNV | - | 19/48 |
1-63027024-C-T | DOCK7 | c.2199+264G>A | - | IntronicSNV | - | 19/48 |
20-33915571-A-G | UQCC1 | c.574-13003T>C | - | IntronicSNV | - | 7/9 |
11-64334114-C-T | SLC22A11 | c.1059-957C>T | - | IntronicSNV | - | 6/9 |
19-45400747-T-A | TOMM40 | c.644-3240T>A | - | IntronicSNV | - | 6/9 |
6-142702589-A-T | ADGRG6 | c.1070-499A>T | - | IntronicSNV | - | 4/24 |
6-142702589-A-C | ADGRG6 | c.1070-499A>C | - | IntronicSNV | - | 4/24 |
16-56976744-G-A | HERPUD1 | c.1009-294G>A | - | IntronicSNV | - | 7/7 |
8-19820433-T-C | LPL | c.1427+703T>C | - | IntronicSNV | - | 9/9 |
7-44222802-C-T | GCK | c.45+5706G>A | - | IntronicSNV | - | 1/9 |
20-33896262-C-G | UQCC1 | c.652-1680G>C | - | IntronicSNV | - | 8/9 |
20-33982435-G-A | UQCC1 | c.25-436C>T | - | IntronicSNV | - | 1/9 |
16-56839439-C-T | NUP93 | c.384C>T | p.Tyr128Tyr | Synonymous | 5/22 | - |
2-169730872-C-A | SPC25 | c.452-679G>T | - | IntronicSNV | - | 5/6 |
18-47106028-C-T | LIPG | c.794-1757C>T | - | IntronicSNV | - | 5/9 |
20-33931344-A-G | UQCC1 | c.573+3623T>C | - | IntronicSNV | - | 7/9 |
19-11207102-T-C | LDLR | c.68-3797T>C | - | IntronicSNV | - | 1/17 |
6-142681409-G-A | ADGRG6 | c.104-7297G>A | - | IntronicSNV | - | 2/24 |
6-142666861-T-C | ADGRG6 | c.104-21845T>C | - | IntronicSNV | - | 2/24 |
15-89386224-T-C | ACAN | c.758-362T>C | - | IntronicSNV | - | 5/15 |
3-141145319-C-T | ZBTB38 | c.1-15912C>T | - | IntronicSNV | - | 1/7 |
8-19819328-T-C | LPL | c.1323-298T>C | - | IntronicSNV | - | 8/9 |
2-21265518-A-T | APOB | c.122-170T>A | - | IntronicSNV | - | 2/28 |
16-53806453-A-T | FTO | c.46-37599A>T | - | IntronicSNV | - | 1/8 |
16-53806453-A-G | FTO | c.46-37599A>G | - | IntronicSNV | - | 1/8 |
1-63050598-T-G | DOCK7 | c.1800+1580A>C | - | IntronicSNV | - | 15/48 |
6-142752595-G-A | ADGRG6 | c.3236-5976G>A | - | IntronicSNV | - | 21/24 |
16-57006829-T-A | CETP | c.751-414T>A | - | IntronicSNV | - | 8/15 |
2-169799010-A-G | ABCB11 | c.2610+2105T>C | - | IntronicSNV | - | 21/27 |
19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
20-33982846-G-A | UQCC1 | c.25-847C>T | - | IntronicSNV | - | 1/9 |
19-11210912-C-G | LDLR | c.81C>G | p.Cys27Trp | Missense | 2/18 | - |
19-11210912-C-A | LDLR | c.81C>A | p.Cys27* | Nonsense | 2/18 | - |
6-142701158-A-G | ADGRG6 | c.1070-1930A>G | - | IntronicSNV | - | 4/24 |
1-234420503-G-C | SLC35F3 | c.609-24344G>C | - | IntronicSNV | - | 3/7 |
7-44245060-T-C | YKT6 | c.187+811T>C | - | IntronicSNV | - | 2/6 |
1-63007182-C-T | DOCK7 | c.2952+1097G>A | - | IntronicSNV | - | 24/48 |
1-62912919-C-T | USP1 | c.1250-93C>T | - | IntronicSNV | - | 6/8 |
16-53805207-C-A | FTO | c.46-38845C>A | - | IntronicSNV | - | 1/8 |
6-142655238-G-A | ADGRG6 | c.103+24457G>A | - | IntronicSNV | - | 2/24 |
3-141106063-T-A | ZBTB38 | c.-351+284T>A | - | intron_variant | - | 5/7 |
8-19812812-C-T | LPL | c.776-540C>T | - | IntronicSNV | - | 5/9 |
2-169801488-A-T | ABCB11 | c.2344-17T>A | - | IntronicSNV | - | 19/27 |
2-169763804-T-C | G6PC2 | c.557-274T>C | - | IntronicSNV | - | 4/4 |
3-141095724-G-A | ZBTB38 | c.-479-4543G>A | - | intron_variant | - | 3/7 |
19-45357291-G-C | NECTIN2 | c.88+7421G>C | - | IntronicSNV | - | 1/5 |
1-62992749-T-C | DOCK7 | c.3843+1073A>G | - | IntronicSNV | - | 30/48 |
1-63026011-C-T | DOCK7 | c.2200-1120G>A | - | IntronicSNV | - | 19/48 |
1-63049819-G-A | DOCK7 | c.1801-894C>T | - | IntronicSNV | - | 15/48 |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
1-62977558-A-T | DOCK7 | c.4190-1214T>A | - | IntronicSNV | - | 32/48 |
3-141106063-T-C | ZBTB38 | c.-351+284T>C | - | intron_variant | - | 5/7 |
5-74879890-G-A | POLK | c.1059+648G>A | - | IntronicSNV | - | 8/14 |
19-45357291-G-A | NECTIN2 | c.88+7421G>A | - | IntronicSNV | - | 1/5 |
1-62977558-A-C | DOCK7 | c.4190-1214T>G | - | IntronicSNV | - | 32/48 |
1-63128325-A-G | DOCK7 | c.144+371T>C | - | IntronicSNV | - | 2/48 |
20-33975181-C-A | UQCC1 | c.130-3245G>T | - | IntronicSNV | - | 2/9 |
1-62934308-A-G | DOCK7 | c.6119+5345T>C | - | IntronicSNV | - | 47/48 |
1-63001120-A-C | DOCK7 | c.3518+44T>G | - | IntronicSNV | - | 28/48 |
19-45395909-C-G | TOMM40 | c.343-185C>G | - | IntronicSNV | - | 3/9 |
7-151406005-C-T | PRKAG2 | c.467-33282G>A | - | IntronicSNV | - | 3/15 |
16-56908045-C-T | SLC12A3 | c.1095+1347C>T | - | IntronicSNV | - | 8/25 |
16-56866196-T-C | NUP93 | c.1252-11T>C | - | IntronicSNV | - | 11/21 |
15-58741177-C-G | LIPC | c.88+16858C>G | - | IntronicSNV | - | 1/8 |
16-57011185-G-A | CETP | c.982-818G>A | - | IntronicSNV | - | 10/15 |
2-169784955-A-C | ABCB11 | c.3412-1083T>G | - | IntronicSNV | - | 25/27 |
16-53821690-A-G | FTO | c.46-22362A>G | - | IntronicSNV | - | 1/8 |
1-62943954-G-A | DOCK7 | c.5416-458C>T | - | IntronicSNV | - | 42/48 |
7-44219705-T-C | GCK | c.45+8803A>G | - | IntronicSNV | - | 1/9 |
8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
6-142668901-T-C | ADGRG6 | c.104-19805T>C | - | IntronicSNV | - | 2/24 |
16-53815161-T-G | FTO | c.46-28891T>G | - | IntronicSNV | - | 1/8 |
2-169789575-C-T | ABCB11 | c.3057-532G>A | - | IntronicSNV | - | 23/27 |
1-63046039-T-C | DOCK7 | c.1872-1402A>G | - | IntronicSNV | - | 16/48 |
6-142707133-T-G | ADGRG6 | c.1138+3977T>G | - | IntronicSNV | - | 5/24 |
2-169779896-T-A | ABCB11 | c.*236A>T | - | 3-UTRSNV | 28/28 | - |
2-169779896-T-C | ABCB11 | c.*236A>G | - | 3-UTRSNV | 28/28 | - |
2-169779896-T-G | ABCB11 | c.*236A>C | - | 3-UTRSNV | 28/28 | - |
2-44084600-A-T | ABCG8 | c.964+4593A>T | - | IntronicSNV | - | 6/12 |
16-53822237-A-G | FTO | c.46-21815A>G | - | IntronicSNV | - | 1/8 |
7-151415536-C-T | PRKAG2 | c.467-42813G>A | - | IntronicSNV | - | 3/15 |
16-56908703-C-G | SLC12A3 | c.1095+2005C>G | - | IntronicSNV | - | 8/25 |
20-33909784-C-T | UQCC1 | c.574-7216G>A | - | IntronicSNV | - | 7/9 |
2-44086591-G-T | ABCG8 | c.964+6584G>T | - | IntronicSNV | - | 6/12 |
20-33958253-A-T | UQCC1 | c.406+3734T>A | - | IntronicSNV | - | 5/9 |
15-58735005-A-G | LIPC | c.88+10686A>G | - | IntronicSNV | - | 1/8 |
19-45379060-A-T | NECTIN2 | c.1042+1325A>T | - | IntronicSNV | - | 5/5 |
1-63093617-C-T | DOCK7 | c.1283-2545G>A | - | IntronicSNV | - | 11/48 |
19-45379060-A-C | NECTIN2 | c.1042+1325A>C | - | IntronicSNV | - | 5/5 |
1-62982994-G-A | DOCK7 | c.3844-3425C>T | - | IntronicSNV | - | 30/48 |
2-169779156-G-A | ABCB11 | c.*976C>T | - | IntergenicSNV | 28/28 | - |
1-62934846-G-A | DOCK7 | c.6119+4807C>T | - | IntronicSNV | - | 47/48 |
19-45299199-G-T | CBLC | c.1362+1661G>T | - | IntronicSNV | - | 9/10 |
16-53830452-A-G | FTO | c.46-13600A>G | - | IntronicSNV | - | 1/8 |
19-45299199-G-A | CBLC | c.1362+1661G>A | - | IntronicSNV | - | 9/10 |
2-169743887-A-T | SPC25 | c.199+1849T>A | - | IntronicSNV | - | 3/6 |
19-45255679-G-C | BCL3 | c.410+1042G>C | - | IntronicSNV | - | 2/8 |
2-169743887-A-G | SPC25 | c.199+1849T>C | - | IntronicSNV | - | 3/6 |
8-19816371-T-C | LPL | c.1019-400T>C | - | IntronicSNV | - | 6/9 |
2-169797652-T-C | ABCB11 | c.2610+3463A>G | - | IntronicSNV | - | 21/27 |
16-56769902-A-G | NUP93 | c.-15+5779A>G | - | intron_variant | - | 1/21 |
19-45169408-A-T | PVR | c.*4329A>T | - | 3_prime_UTR_variant | 8/8 | - |
2-169789720-T-C | ABCB11 | c.3057-677A>G | - | IntronicSNV | - | 23/27 |
1-63147040-A-C | DOCK7 | c.38+6858T>G | - | IntronicSNV | - | 1/48 |
20-33973378-G-A | UQCC1 | c.130-1442C>T | - | IntronicSNV | - | 2/9 |
15-89391617-A-G | ACAN | c.1732+348A>G | - | IntronicSNV | - | 9/15 |
15-58741891-A-G | LIPC | c.88+17572A>G | - | IntronicSNV | - | 1/8 |
2-169806021-T-G | ABCB11 | c.2344-4550A>C | - | IntronicSNV | - | 19/27 |
2-21263639-T-G | APOB | c.383+171A>C | - | IntronicSNV | - | 4/28 |
1-62933758-G-A | DOCK7 | c.6119+5895C>T | - | IntronicSNV | - | 47/48 |
20-33905619-G-A | UQCC1 | c.574-3051C>T | - | IntronicSNV | - | 7/9 |
16-57011452-G-A | CETP | c.982-551G>A | - | IntronicSNV | - | 10/15 |
1-63099023-T-C | DOCK7 | c.1116+146A>G | - | IntronicSNV | - | 10/48 |
6-142694049-G-A | ADGRG6 | c.1069+2119G>A | - | IntronicSNV | - | 4/24 |
1-63009900-A-T | DOCK7 | c.2767-484T>A | - | IntronicSNV | - | 22/48 |
16-57014875-A-G | CETP | c.1147-195A>G | - | IntronicSNV | - | 11/15 |
1-63009900-A-G | DOCK7 | c.2767-484T>C | - | IntronicSNV | - | 22/48 |
16-57014875-A-C | CETP | c.1147-195A>C | - | IntronicSNV | - | 11/15 |
16-57017474-G-A | CETP | c.1408-30G>A | - | IntronicSNV | - | 15/15 |
19-11277232-G-A | KANK2 | c.*2C>T | - | 3-UTRSNV | 11/11 | - |
19-11277232-G-T | KANK2 | c.*2C>A | - | 3-UTRSNV | 11/11 | - |
19-45372794-G-A | NECTIN2 | c.479-2316G>A | - | IntronicSNV | - | 2/5 |
16-53811788-A-G | FTO | c.46-32264A>G | - | IntronicSNV | - | 1/8 |
1-63085997-T-A | DOCK7 | c.1426-333A>T | - | IntronicSNV | - | 12/48 |
20-33983314-T-A | UQCC1 | c.25-1315A>T | - | IntronicSNV | - | 1/9 |
2-169797732-T-C | ABCB11 | c.2610+3383A>G | - | IntronicSNV | - | 21/27 |
1-63012056-A-G | DOCK7 | c.2767-2640T>C | - | IntronicSNV | - | 22/48 |
5-74639178-A-G | HMGCR | c.166-500A>G | - | IntronicSNV | - | 2/19 |
1-63073975-C-T | DOCK7 | c.1682+10402G>A | - | IntronicSNV | - | 14/48 |
7-151413124-T-C | PRKAG2 | c.467-40401A>G | - | IntronicSNV | - | 3/15 |
1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
16-53821413-T-C | FTO | c.46-22639T>C | - | IntronicSNV | - | 1/8 |
6-126666416-C-T | CENPW | c.127-935C>T | - | IntronicSNV | - | 1/2 |
8-118185938-A-G | SLC30A8 | c.*1018A>G | - | 3-UTRSNV | 8/8 | - |
7-44203912-A-G | GCK | c.46-10850T>C | - | IntronicSNV | - | 1/9 |
16-53828066-C-T | FTO | c.46-15986C>T | - | IntronicSNV | - | 1/8 |
7-151413194-T-C | PRKAG2 | c.467-40471A>G | - | IntronicSNV | - | 3/15 |
2-44063098-G-C | ABCG5 | c.265+1875C>G | - | IntronicSNV | - | 2/12 |
6-142648056-A-T | ADGRG6 | c.103+17275A>T | - | IntronicSNV | - | 2/24 |
1-62916796-T-C | USP1 | c.*144T>C | - | 3-UTRSNV | 9/9 | - |
1-63040728-G-A | DOCK7 | c.2112+2205C>T | - | IntronicSNV | - | 18/48 |
8-19817401-A-G | LPL | c.1139+510A>G | - | IntronicSNV | - | 7/9 |
2-169817403-C-T | ABCB11 | c.2179-2765G>A | - | IntronicSNV | - | 18/27 |
5-74651909-G-C | HMGCR | c.1881-259G>C | - | IntronicSNV | - | 14/19 |
5-176821449-A-C | SLC34A1 | c.1174+253A>C | - | IntronicSNV | - | 10/12 |
1-62996838-C-T | DOCK7 | c.3519-1721G>A | - | IntronicSNV | - | 28/48 |
9-107666414-T-G | ABCA1 | c.1-454A>C | - | IntronicSNV | - | 1/49 |
1-63061906-C-T | DOCK7 | c.1683-9611G>A | - | IntronicSNV | - | 14/48 |
1-62923858-G-A | DOCK7 | c.6120-482C>T | - | IntronicSNV | - | 47/48 |
2-44063098-G-T | ABCG5 | c.265+1875C>A | - | IntronicSNV | - | 2/12 |
1-155178782-A-T | MTX1 | c.187A>T | p.Thr63Ser | Missense | 1/7 | - |
8-19808131-G-T | LPL | c.250-1149G>T | - | IntronicSNV | - | 2/9 |
16-53798523-G-A | FTO | c.46-45529G>A | - | IntronicSNV | - | 1/8 |
1-62988972-T-C | DOCK7 | c.3843+4850A>G | - | IntronicSNV | - | 30/48 |
1-62977307-C-T | DOCK7 | c.4190-963G>A | - | IntronicSNV | - | 32/48 |
1-62977307-C-A | DOCK7 | c.4190-963G>T | - | IntronicSNV | - | 32/48 |
19-45183885-C-G | CEACAM19 | c.706+279C>G | - | IntronicSNV | - | 5/7 |
19-45376284-C-G | NECTIN2 | c.775+878C>G | - | IntronicSNV | - | 3/5 |
2-169765737-A-G | G6PC2 | c.*1148A>G | - | 3-UTRSNV | 5/5 | - |
7-44223721-G-A | GCK | c.45+4787C>T | - | IntronicSNV | - | 1/9 |
2-27741072-C-A | GCKR | c.1423-583C>A | - | IntronicSNV | - | 16/18 |
15-58730498-C-G | LIPC | c.88+6179C>G | - | IntronicSNV | - | 1/8 |
15-58730498-C-T | LIPC | c.88+6179C>T | - | IntronicSNV | - | 1/8 |
20-33967523-T-G | UQCC1 | c.333+2198A>C | - | IntronicSNV | - | 4/9 |
6-160997118-A-T | LPA | c.4631+1050T>A | - | IntronicSNV | - | 28/38 |
6-160997118-A-G | LPA | c.4631+1050T>C | - | IntronicSNV | - | 28/38 |
16-53818813-A-G | FTO | c.46-25239A>G | - | IntronicSNV | - | 1/8 |
3-170743051-C-T | SLC2A2 | c.15+1394G>A | - | IntronicSNV | - | 1/10 |
15-89388905-C-T | ACAN | c.1221C>T | p.Val407Val | Synonymous | 7/16 | - |
2-169789306-T-C | ABCB11 | c.3057-263A>G | - | IntronicSNV | - | 23/27 |
1-62928549-G-A | DOCK7 | c.6120-5173C>T | - | IntronicSNV | - | 47/48 |
16-53822502-T-G | FTO | c.46-21550T>G | - | IntronicSNV | - | 1/8 |
2-169784987-A-G | ABCB11 | c.3412-1115T>C | - | IntronicSNV | - | 25/27 |
6-142715195-T-C | ADGRG6 | c.1340+100T>C | - | IntronicSNV | - | 8/24 |
20-33956004-A-T | UQCC1 | c.407-1587T>A | - | IntronicSNV | - | 5/9 |
3-170743051-C-A | SLC2A2 | c.15+1394G>T | - | IntronicSNV | - | 1/10 |
1-63048277-A-C | DOCK7 | c.1871+578T>G | - | IntronicSNV | - | 16/48 |
1-62993620-T-C | DOCK7 | c.3843+202A>G | - | IntronicSNV | - | 30/48 |
20-33924112-C-T | UQCC1 | c.573+10855G>A | - | IntronicSNV | - | 7/9 |
2-169784940-G-A | ABCB11 | c.3412-1068C>T | - | IntronicSNV | - | 25/27 |
16-56873495-C-T | NUP93 | c.2199C>T | p.Ala733Ala | Synonymous | 20/22 | - |
16-53845487-C-A | FTO | c.123+1358C>A | - | IntronicSNV | - | 2/8 |
16-53845487-C-G | FTO | c.123+1358C>G | - | IntronicSNV | - | 2/8 |
1-62996046-C-A | DOCK7 | c.3519-929G>T | - | IntronicSNV | - | 28/48 |
2-169760082-T-C | G6PC2 | c.329-933T>C | - | IntronicSNV | - | 2/4 |
3-141125705-C-G | ZBTB38 | c.-1+2832C>G | - | intron_variant | - | 7/7 |
1-62996046-C-G | DOCK7 | c.3519-929G>C | - | IntronicSNV | - | 28/48 |
3-141118028-A-G | ZBTB38 | c.-106+2683A>G | - | intron_variant | - | 6/7 |
3-141118028-A-T | ZBTB38 | c.-106+2683A>T | - | intron_variant | - | 6/7 |
16-53803187-A-T | FTO | c.46-40865A>T | - | IntronicSNV | - | 1/8 |
8-76478768-C-T | HNF4G | c.*2437C>T | - | 3-UTRSNV | 10/10 | - |
1-63105253-A-C | DOCK7 | c.819-2979T>G | - | IntronicSNV | - | 7/48 |
2-169802329-C-A | ABCB11 | c.2344-858G>T | - | IntronicSNV | - | 19/27 |
1-63105253-A-G | DOCK7 | c.819-2979T>C | - | IntronicSNV | - | 7/48 |
1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
16-57009941-T-C | CETP | c.981+878T>C | - | IntronicSNV | - | 10/15 |
1-63139730-C-T | DOCK7 | c.39-10929G>A | - | IntronicSNV | - | 1/48 |
20-33948919-A-T | UQCC1 | c.464+5441T>A | - | IntronicSNV | - | 6/9 |
16-53827962-A-G | FTO | c.46-16090A>G | - | IntronicSNV | - | 1/8 |
5-76742615-G-C | WDR41 | c.697+2970C>G | - | IntronicSNV | - | 8/12 |
15-89383854-C-A | ACAN | c.629+437C>A | - | IntronicSNV | - | 4/15 |
16-53827479-A-G | FTO | c.46-16573A>G | - | IntronicSNV | - | 1/8 |
1-63094692-A-G | DOCK7 | c.1282+2219T>C | - | IntronicSNV | - | 11/48 |
20-33987298-T-A | UQCC1 | c.25-5299A>T | - | IntronicSNV | - | 1/9 |
19-11206530-T-A | LDLR | c.68-4369T>A | - | IntronicSNV | - | 1/17 |
16-53821615-A-G | FTO | c.46-22437A>G | - | IntronicSNV | - | 1/8 |
2-169801905-T-A | ABCB11 | c.2344-434A>T | - | IntronicSNV | - | 19/27 |
1-62983693-A-C | DOCK7 | c.3844-4124T>G | - | IntronicSNV | - | 30/48 |
1-62983693-A-G | DOCK7 | c.3844-4124T>C | - | IntronicSNV | - | 30/48 |
1-63139730-C-G | DOCK7 | c.39-10929G>C | - | IntronicSNV | - | 1/48 |
19-45357377-T-C | NECTIN2 | c.88+7507T>C | - | IntronicSNV | - | 1/5 |
19-45357377-T-G | NECTIN2 | c.88+7507T>G | - | IntronicSNV | - | 1/5 |
1-62945631-C-T | DOCK7 | c.5416-2135G>A | - | IntronicSNV | - | 42/48 |
19-11206969-G-A | LDLR | c.68-3930G>A | - | IntronicSNV | - | 1/17 |
5-74642848-A-T | HMGCR | c.451-181A>T | - | IntronicSNV | - | 5/19 |
5-74689249-T-A | COL4A3BP | c.1189-3737A>T | - | IntronicSNV | - | 11/17 |
20-33987298-T-C | UQCC1 | c.25-5299A>G | - | IntronicSNV | - | 1/9 |
2-169792188-C-G | ABCB11 | c.2815-253G>C | - | IntronicSNV | - | 22/27 |
1-62999675-C-G | DOCK7 | c.3518+1489G>C | - | IntronicSNV | - | 28/48 |
1-62911751-A-T | USP1 | c.1249+651A>T | - | IntronicSNV | - | 6/8 |
1-62911751-A-C | USP1 | c.1249+651A>C | - | IntronicSNV | - | 6/8 |
1-62911751-A-G | USP1 | c.1249+651A>G | - | IntronicSNV | - | 6/8 |
2-169744551-A-G | SPC25 | c.199+1185T>C | - | IntronicSNV | - | 3/6 |
1-63006595-A-T | DOCK7 | c.2953-1032T>A | - | IntronicSNV | - | 24/48 |
11-65560620-C-T | OVOL1 | c.101-882C>T | - | IntronicSNV | - | 1/3 |
16-56972713-G-A | HERPUD1 | c.429-436G>A | - | IntronicSNV | - | 4/7 |
16-53814363-G-T | FTO | c.46-29689G>T | - | IntronicSNV | - | 1/8 |
2-169797927-A-G | ABCB11 | c.2610+3188T>C | - | IntronicSNV | - | 21/27 |
16-53810943-C-T | FTO | c.46-33109C>T | - | IntronicSNV | - | 1/8 |
16-56802246-T-G | NUP93 | c.297+9679T>G | - | IntronicSNV | - | 3/21 |
2-27734972-G-A | GCKR | c.1422+3854G>A | - | IntronicSNV | - | 16/18 |
16-56802246-T-C | NUP93 | c.297+9679T>C | - | IntronicSNV | - | 3/21 |
1-63006842-A-T | DOCK7 | c.2953-1279T>A | - | IntronicSNV | - | 24/48 |
1-63113511-C-A | DOCK7 | c.733-64G>T | - | IntronicSNV | - | 6/48 |
2-169794983-G-A | ABCB11 | c.2611-2040C>T | - | IntronicSNV | - | 21/27 |
20-33894091-A-G | UQCC1 | c.765+378T>C | - | IntronicSNV | - | 9/9 |
20-33971914-C-T | UQCC1 | c.152G>A | p.Arg51Gln | Missense | 3/10 | - |
5-74910870-A-G | ANKDD1B | c.194-1759A>G | - | IntronicSNV | - | 1/13 |
1-63113719-T-C | DOCK7 | c.732+58A>G | - | IntronicSNV | - | 6/48 |
16-53820996-C-G | FTO | c.46-23056C>G | - | IntronicSNV | - | 1/8 |
18-46837578-G-T | DYM | c.763+20656C>A | - | IntronicSNV | - | 8/16 |
16-53820996-C-A | FTO | c.46-23056C>A | - | IntronicSNV | - | 1/8 |
18-46888639-G-C | DYM | c.494+892C>G | - | IntronicSNV | - | 6/16 |
1-63106767-C-A | DOCK7 | c.819-4493G>T | - | IntronicSNV | - | 7/48 |
15-58741134-A-T | LIPC | c.88+16815A>T | - | IntronicSNV | - | 1/8 |
15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
16-53799905-A-G | FTO | c.46-44147A>G | - | IntronicSNV | - | 1/8 |
1-63074442-C-A | DOCK7 | c.1682+9935G>T | - | IntronicSNV | - | 14/48 |
16-67690688-C-A | CARMIL2 | c.4037-16C>A | - | IntronicSNV | - | 35/37 |
11-66899619-A-G | KDM2A | c.42+10790A>G | - | IntronicSNV | - | 2/20 |
16-67690688-C-T | CARMIL2 | c.4037-16C>T | - | IntronicSNV | - | 35/37 |
1-63055470-G-A | DOCK7 | c.1683-3175C>T | - | IntronicSNV | - | 14/48 |
2-169803939-G-T | ABCB11 | c.2344-2468C>A | - | IntronicSNV | - | 19/27 |
5-176821375-C-T | SLC34A1 | c.1174+179C>T | - | IntronicSNV | - | 10/12 |
8-19819439-A-G | LPL | c.1323-187A>G | - | IntronicSNV | - | 8/9 |
3-141091595-T-A | ZBTB38 | c.-480+2807T>A | - | intron_variant | - | 3/7 |
2-169797732-T-A | ABCB11 | c.2610+3383A>T | - | IntronicSNV | - | 21/27 |
1-63006087-C-A | DOCK7 | c.2953-524G>T | - | IntronicSNV | - | 24/48 |
2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
2-169780885-T-C | ABCB11 | c.3765+282A>G | - | IntronicSNV | - | 27/27 |
1-63018170-T-G | DOCK7 | c.2766+233A>C | - | IntronicSNV | - | 22/48 |
1-63018170-T-C | DOCK7 | c.2766+233A>G | - | IntronicSNV | - | 22/48 |
2-169782869-T-C | ABCB11 | c.3618+797A>G | - | IntronicSNV | - | 26/27 |
8-19819536-T-G | LPL | c.1323-90T>G | - | IntronicSNV | - | 8/9 |
2-44065090-G-A | ABCG5 | c.148C>T | p.Arg50Cys | Missense | 2/13 | - |
2-44065090-G-T | ABCG5 | c.148C>A | p.Arg50Ser | Missense | 2/13 | - |
2-169813353-C-T | ABCB11 | c.2343+1121G>A | - | IntronicSNV | - | 19/27 |
16-53821862-C-T | FTO | c.46-22190C>T | - | IntronicSNV | - | 1/8 |
1-63012107-C-G | DOCK7 | c.2767-2691G>C | - | IntronicSNV | - | 22/48 |
7-44204426-C-T | GCK | c.46-11364G>A | - | IntronicSNV | - | 1/9 |
1-63012107-C-T | DOCK7 | c.2767-2691G>A | - | IntronicSNV | - | 22/48 |
3-141130835-C-A | ZBTB38 | c.-1+7962C>A | - | intron_variant | - | 7/7 |
19-45175069-G-C | CEACAM19 | c.1-135G>C | - | 5-UTRSNV | 1/8 | - |
11-66988048-C-A | KDM2A | c.957+1174C>A | - | IntronicSNV | - | 10/20 |
3-141114293-A-G | ZBTB38 | c.-350-808A>G | - | intron_variant | - | 5/7 |
20-33954913-C-A | UQCC1 | c.407-496G>T | - | IntronicSNV | - | 5/9 |
3-141130835-C-T | ZBTB38 | c.-1+7962C>T | - | intron_variant | - | 7/7 |
8-19811901-T-C | LPL | c.775+37T>C | - | IntronicSNV | - | 5/9 |
15-89391581-C-A | ACAN | c.1732+312C>A | - | IntronicSNV | - | 9/15 |
15-58741134-A-C | LIPC | c.88+16815A>C | - | IntronicSNV | - | 1/8 |
16-57002663-C-A | CETP | c.234-635C>A | - | IntronicSNV | - | 2/15 |
16-53822183-C-T | FTO | c.46-21869C>T | - | IntronicSNV | - | 1/8 |
2-169792171-C-T | ABCB11 | c.2815-236G>A | - | IntronicSNV | - | 22/27 |
20-33960450-T-A | UQCC1 | c.406+1537A>T | - | IntronicSNV | - | 5/9 |
20-33960450-T-C | UQCC1 | c.406+1537A>G | - | IntronicSNV | - | 5/9 |
6-142699948-A-C | ADGRG6 | c.1070-3140A>C | - | IntronicSNV | - | 4/24 |
6-142734204-T-C | ADGRG6 | c.2457+1656T>C | - | IntronicSNV | - | 17/24 |
8-19819077-T-G | LPL | c.1322+483T>G | - | IntronicSNV | - | 8/9 |
5-74637711-A-T | HMGCR | c.1-720A>T | - | IntronicSNV | - | 1/19 |
2-169764491-T-C | G6PC2 | c.970T>C | p.Ser324Pro | Missense | 5/5 | - |
16-56873789-T-C | NUP93 | c.2220+273T>C | - | IntronicSNV | - | 20/21 |
16-53831146-C-T | FTO | c.46-12906C>T | - | IntronicSNV | - | 1/8 |
8-19816238-A-C | LPL | c.1019-533A>C | - | IntronicSNV | - | 6/9 |
19-45395844-G-A | TOMM40 | c.342+127G>A | - | IntronicSNV | - | 3/9 |
5-74773420-T-A | COL4A3BP | c.232-18414A>T | - | IntronicSNV | - | 2/17 |
5-74773420-T-C | COL4A3BP | c.232-18414A>G | - | IntronicSNV | - | 2/17 |
6-142664439-T-A | ADGRG6 | c.104-24267T>A | - | IntronicSNV | - | 2/24 |
19-45253491-C-G | BCL3 | c.257-993C>G | - | IntronicSNV | - | 1/8 |
2-169764176-G-C | G6PC2 | c.655G>C | p.Val219Leu | Missense | 5/5 | - |
16-56884081-G-C | NUP93 | c.*5560G>C | - | IntergenicSNV | 22/22 | - |
16-56909598-C-T | SLC12A3 | c.1096-2391C>T | - | IntronicSNV | - | 8/25 |
4-17994298-T-C | LCORL | c.155-19790A>G | - | IntronicSNV | - | 1/6 |
7-44223942-G-A | GCK | c.45+4566C>T | - | IntronicSNV | - | 1/9 |
1-63046578-C-A | DOCK7 | c.1872-1941G>T | - | IntronicSNV | - | 16/48 |
16-53815435-T-C | FTO | c.46-28617T>C | - | IntronicSNV | - | 1/8 |
6-142716286-G-T | ADGRG6 | c.1340+1191G>T | - | IntronicSNV | - | 8/24 |
1-63121294-G-A | DOCK7 | c.145-1464C>T | - | IntronicSNV | - | 2/48 |
2-169806321-A-G | ABCB11 | c.2344-4850T>C | - | IntronicSNV | - | 19/27 |
2-169703974-G-A | NOSTRIN | c.397-3620G>A | - | IntronicSNV | - | 7/14 |
7-44205906-A-C | GCK | c.46-12844T>G | - | IntronicSNV | - | 1/9 |
16-57003146-T-C | CETP | c.234-152T>C | - | IntronicSNV | - | 2/15 |
18-47109955-A-C | LIPG | c.1187A>C | p.Asn396Thr | Missense | 8/10 | - |
7-44203006-C-T | GCK | c.46-9944G>A | - | IntronicSNV | - | 1/9 |
18-47109955-A-G | LIPG | c.1187A>G | p.Asn396Ser | Missense | 8/10 | - |
1-62970184-T-A | DOCK7 | c.4671+117A>T | - | IntronicSNV | - | 36/48 |
3-141110074-A-G | ZBTB38 | c.-351+4295A>G | - | intron_variant | - | 5/7 |
20-33972899-A-C | UQCC1 | c.130-963T>G | - | IntronicSNV | - | 2/9 |
1-63010110-G-C | DOCK7 | c.2767-694C>G | - | IntronicSNV | - | 22/48 |
16-56855192-C-T | NUP93 | c.565-224C>T | - | IntronicSNV | - | 6/21 |
16-57002732-T-G | CETP | c.234-566T>G | - | IntronicSNV | - | 2/15 |
16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
20-33995780-A-G | UQCC1 | c.24+3963T>C | - | IntronicSNV | - | 1/9 |
8-19811897-C-G | LPL | c.775+33C>G | - | IntronicSNV | - | 5/9 |
1-62987289-T-C | DOCK7 | c.3843+6533A>G | - | IntronicSNV | - | 30/48 |
19-53599256-A-T | ZNF160 | c.-129-4283T>A | - | intron_variant | - | 1/5 |
8-19820916-C-T | LPL | c.1427+1186C>T | - | IntronicSNV | - | 9/9 |
3-141147414-T-C | ZBTB38 | c.1-13817T>C | - | IntronicSNV | - | 7/7 |
16-56975277-A-G | HERPUD1 | c.903-767A>G | - | IntronicSNV | - | 6/7 |
19-45395266-G-A | TOMM40 | c.274+320G>A | - | IntronicSNV | - | 2/9 |
16-53799977-T-C | FTO | c.46-44075T>C | - | IntronicSNV | - | 1/8 |
16-53799977-T-G | FTO | c.46-44075T>G | - | IntronicSNV | - | 1/8 |
19-45373565-G-A | NECTIN2 | c.479-1545G>A | - | IntronicSNV | - | 2/5 |
8-19824667-C-T | LPL | c.*1846C>T | - | 3-UTRSNV | 10/10 | - |
6-161005610-C-T | LPA | c.4289+468G>A | - | IntronicSNV | - | 26/38 |
3-141142691-G-A | ZBTB38 | c.1-18540G>A | - | IntronicSNV | - | 7/7 |
5-74759183-T-A | COL4A3BP | c.232-4177A>T | - | IntronicSNV | - | 2/17 |
5-74759183-T-C | COL4A3BP | c.232-4177A>G | - | IntronicSNV | - | 2/17 |
20-33942263-A-G | UQCC1 | c.465-7188T>C | - | IntronicSNV | - | 6/9 |
16-56908703-C-T | SLC12A3 | c.1095+2005C>T | - | IntronicSNV | - | 8/25 |
1-62903363-C-G | USP1 | c.-70+1130C>G | - | intron_variant | - | 1/8 |
3-141093285-T-C | ZBTB38 | c.-480+4497T>C | - | intron_variant | - | 3/7 |
8-4102424-A-G | CSMD1 | c.415+175051T>C | - | IntronicSNV | - | 3/69 |
20-33896757-G-C | UQCC1 | c.652-2175C>G | - | IntronicSNV | - | 8/9 |
2-169784493-A-G | ABCB11 | c.3412-621T>C | - | IntronicSNV | - | 25/27 |
2-169764546-C-G | G6PC2 | c.1025C>G | p.Ser342Cys | Missense | 5/5 | - |
16-57000885-G-A | CETP | c.234-2413G>A | - | IntronicSNV | - | 2/15 |
6-142702234-A-G | ADGRG6 | c.1070-854A>G | - | IntronicSNV | - | 4/24 |
7-44247258-C-T | YKT6 | c.393+167C>T | - | IntronicSNV | - | 4/6 |
1-62963914-G-C | DOCK7 | c.4672-1746C>G | - | IntronicSNV | - | 36/48 |
2-44086591-G-A | ABCG8 | c.964+6584G>A | - | IntronicSNV | - | 6/12 |
6-142755024-C-T | ADGRG6 | c.3236-3547C>T | - | IntronicSNV | - | 21/24 |
8-19817361-T-G | LPL | c.1139+470T>G | - | IntronicSNV | - | 7/9 |
3-141092050-G-T | ZBTB38 | c.-480+3262G>T | - | intron_variant | - | 3/7 |
16-56948292-A-G | SLC12A3 | c.*975A>G | - | 3-UTRSNV | 26/26 | - |
16-53819367-G-A | FTO | c.46-24685G>A | - | IntronicSNV | - | 1/8 |
2-21244000-G-T | APOB | c.2817-1223C>A | - | IntronicSNV | - | 18/28 |
1-63005950-T-C | DOCK7 | c.2953-387A>G | - | IntronicSNV | - | 24/48 |
19-45361646-A-G | NECTIN2 | c.89-6882A>G | - | IntronicSNV | - | 1/5 |
13-28496119-T-C | PDX1 | c.406+1438T>C | - | IntronicSNV | - | 1/1 |
2-169813396-G-A | ABCB11 | c.2343+1078C>T | - | IntronicSNV | - | 19/27 |
1-62930224-G-A | DOCK7 | c.6120-6848C>T | - | IntronicSNV | - | 47/48 |
16-53819198-G-A | FTO | c.46-24854G>A | - | IntronicSNV | - | 1/8 |
16-53819198-G-C | FTO | c.46-24854G>C | - | IntronicSNV | - | 1/8 |
16-53800200-C-T | FTO | c.46-43852C>T | - | IntronicSNV | - | 1/8 |
16-56876845-T-G | NUP93 | c.2349+1100T>G | - | IntronicSNV | - | 21/21 |
16-57004889-G-A | CETP | c.528-56G>A | - | IntronicSNV | - | 5/15 |
19-11207982-T-C | LDLR | c.68-2917T>C | - | IntronicSNV | - | 1/17 |
16-57005301-C-T | CETP | c.658+8C>T | - | IntronicSNV | - | 7/15 |
19-11205975-G-A | LDLR | c.68-4924G>A | - | IntronicSNV | - | 1/17 |
19-11205975-G-C | LDLR | c.68-4924G>C | - | IntronicSNV | - | 1/17 |
16-67253519-T-C | LRRC29 | c.-135+4210A>G | - | intron_variant | - | 2/6 |
19-45319631-G-A | BCAM | c.1078+1614G>A | - | IntronicSNV | - | 8/14 |
13-28496419-G-C | PDX1 | c.406+1738G>C | - | IntronicSNV | - | 1/1 |
1-155151493-C-T | TRIM46 | c.1285+404C>T | - | IntronicSNV | - | 7/9 |
1-63124465-T-G | DOCK7 | c.144+4231A>C | - | IntronicSNV | - | 2/48 |
6-26184102-G-A | HIST1H2BE | c.79G>A | p.Gly27Ser | Missense | 1/1 | - |
19-45182423-C-T | CEACAM19 | c.659+215C>T | - | IntronicSNV | - | 4/7 |
19-45182423-C-G | CEACAM19 | c.659+215C>G | - | IntronicSNV | - | 4/7 |
15-99271135-A-G | IGF1R | c.640+19799A>G | - | IntronicSNV | - | 2/20 |
16-53801343-C-A | FTO | c.46-42709C>A | - | IntronicSNV | - | 1/8 |
16-53801343-C-T | FTO | c.46-42709C>T | - | IntronicSNV | - | 1/8 |
16-53822142-C-A | FTO | c.46-21910C>A | - | IntronicSNV | - | 1/8 |
16-53822142-C-T | FTO | c.46-21910C>T | - | IntronicSNV | - | 1/8 |
4-9994215-C-T | SLC2A9 | c.323+4190G>A | - | IntronicSNV | - | 4/12 |
16-53806280-C-G | FTO | c.46-37772C>G | - | IntronicSNV | - | 1/8 |
16-53822651-A-G | FTO | c.46-21401A>G | - | IntronicSNV | - | 1/8 |
9-107666513-T-G | ABCA1 | c.1-553A>C | - | IntronicSNV | - | 1/49 |
16-53822651-A-T | FTO | c.46-21401A>T | - | IntronicSNV | - | 1/8 |
20-33927006-A-C | UQCC1 | c.573+7961T>G | - | IntronicSNV | - | 7/9 |
16-72140553-G-A | DHX38 | c.2600+537G>A | - | IntronicSNV | - | 19/26 |
16-53801985-C-T | FTO | c.46-42067C>T | - | IntronicSNV | - | 1/8 |
14-23866713-A-G | MYH6 | c.1962+39T>C | - | IntronicSNV | - | 16/38 |
19-45296364-G-A | CBLC | c.1138-367G>A | - | IntronicSNV | - | 7/10 |
6-142742659-T-A | ADGRG6 | c.3235+1418T>A | - | IntronicSNV | - | 21/24 |
6-142760962-T-G | ADGRG6 | c.3491-1083T>G | - | IntronicSNV | - | 23/24 |
7-151411494-G-A | PRKAG2 | c.467-38771C>T | - | IntronicSNV | - | 3/15 |
16-56974791-A-G | HERPUD1 | c.902+634A>G | - | IntronicSNV | - | 6/7 |
1-62904575-T-A | USP1 | c.1-964T>A | - | IntronicSNV | - | 1/8 |
1-62904575-T-G | USP1 | c.1-964T>G | - | IntronicSNV | - | 1/8 |
2-169796288-T-A | ABCB11 | c.2611-3345A>T | - | IntronicSNV | - | 21/27 |
2-169796288-T-C | ABCB11 | c.2611-3345A>G | - | IntronicSNV | - | 21/27 |
7-151411494-G-T | PRKAG2 | c.467-38771C>A | - | IntronicSNV | - | 3/15 |
6-142669338-A-G | ADGRG6 | c.104-19368A>G | - | IntronicSNV | - | 2/24 |
1-62955862-C-T | DOCK7 | c.5269-1126G>A | - | IntronicSNV | - | 40/48 |
13-28495193-G-T | PDX1 | c.406+512G>T | - | IntronicSNV | - | 1/1 |
5-74653462-T-G | HMGCR | c.1987-1020T>G | - | IntronicSNV | - | 15/19 |
1-63019919-G-A | DOCK7 | c.2597-1347C>T | - | IntronicSNV | - | 21/48 |
16-53823727-T-C | FTO | c.46-20325T>C | - | IntronicSNV | - | 1/8 |
20-33980860-T-C | UQCC1 | c.129+1035A>G | - | IntronicSNV | - | 2/9 |
2-169796285-A-G | ABCB11 | c.2611-3342T>C | - | IntronicSNV | - | 21/27 |
19-11207777-C-T | LDLR | c.68-3122C>T | - | IntronicSNV | - | 1/17 |
1-62983751-C-A | DOCK7 | c.3844-4182G>T | - | IntronicSNV | - | 30/48 |
1-63049551-A-G | DOCK7 | c.1801-626T>C | - | IntronicSNV | - | 15/48 |
1-63049551-A-C | DOCK7 | c.1801-626T>G | - | IntronicSNV | - | 15/48 |
16-57001985-A-C | CETP | c.234-1313A>C | - | IntronicSNV | - | 2/15 |
16-57001985-A-T | CETP | c.234-1313A>T | - | IntronicSNV | - | 2/15 |
16-56906006-C-T | SLC12A3 | c.853-257C>T | - | IntronicSNV | - | 6/25 |
1-63084030-G-A | DOCK7 | c.1682+347C>T | - | IntronicSNV | - | 14/48 |
2-169806738-G-A | ABCB11 | c.2344-5267C>T | - | IntronicSNV | - | 19/27 |
5-176815880-G-A | SLC34A1 | c.936+507G>A | - | IntronicSNV | - | 8/12 |
1-63033941-T-A | DOCK7 | c.2113-6567A>T | - | IntronicSNV | - | 18/48 |
1-62904936-G-C | USP1 | c.1-603G>C | - | IntronicSNV | - | 1/8 |
1-63033941-T-C | DOCK7 | c.2113-6567A>G | - | IntronicSNV | - | 18/48 |
1-63012071-A-C | DOCK7 | c.2767-2655T>G | - | IntronicSNV | - | 22/48 |
1-62904936-G-A | USP1 | c.1-603G>A | - | IntronicSNV | - | 1/8 |
3-141094769-C-T | ZBTB38 | c.-479-5498C>T | - | intron_variant | - | 3/7 |
16-53804965-T-C | FTO | c.46-39087T>C | - | IntronicSNV | - | 1/8 |
12-57844049-C-T | INHBC | c.*244C>T | - | 3-UTRSNV | 2/2 | - |
16-53812614-G-A | FTO | c.46-31438G>A | - | IntronicSNV | - | 1/8 |
16-53804965-T-A | FTO | c.46-39087T>A | - | IntronicSNV | - | 1/8 |
16-56834234-G-A | NUP93 | c.360+1784G>A | - | IntronicSNV | - | 4/21 |
20-33907909-T-C | UQCC1 | c.574-5341A>G | - | IntronicSNV | - | 7/9 |
16-56863229-T-A | NUP93 | c.927+208T>A | - | IntronicSNV | - | 9/21 |
2-169789492-G-A | ABCB11 | c.3057-449C>T | - | IntronicSNV | - | 23/27 |
2-169738539-T-C | SPC25 | c.200-4645A>G | - | IntronicSNV | - | 3/6 |
20-33937704-G-A | UQCC1 | c.465-2629C>T | - | IntronicSNV | - | 6/9 |
6-142651052-G-A | ADGRG6 | c.103+20271G>A | - | IntronicSNV | - | 2/24 |
19-11206729-T-G | LDLR | c.68-4170T>G | - | IntronicSNV | - | 1/17 |
2-169787686-C-T | ABCB11 | c.3214-314G>A | - | IntronicSNV | - | 24/27 |
20-33995945-T-A | UQCC1 | c.24+3798A>T | - | IntronicSNV | - | 1/9 |
19-45318351-A-G | BCAM | c.1078+334A>G | - | IntronicSNV | - | 8/14 |
1-63078222-A-T | DOCK7 | c.1682+6155T>A | - | IntronicSNV | - | 14/48 |
2-169765377-A-T | G6PC2 | c.*788A>T | - | 3-UTRSNV | 5/5 | - |
20-33934301-T-C | UQCC1 | c.573+666A>G | - | IntronicSNV | - | 7/9 |
20-33934437-T-A | UQCC1 | c.573+530A>T | - | IntronicSNV | - | 7/9 |
20-33924130-C-G | UQCC1 | c.573+10837G>C | - | IntronicSNV | - | 7/9 |
19-11206729-T-C | LDLR | c.68-4170T>C | - | IntronicSNV | - | 1/17 |
1-109817838-T-C | CELSR2 | c.*1167T>C | - | 3-UTRSNV | 34/34 | - |
20-33995945-T-C | UQCC1 | c.24+3798A>G | - | IntronicSNV | - | 1/9 |
1-62974150-A-T | DOCK7 | c.4287-421T>A | - | IntronicSNV | - | 33/48 |
6-142667380-C-T | ADGRG6 | c.104-21326C>T | - | IntronicSNV | - | 2/24 |
1-55505647-G-A | PCSK9 | c.137G>A | p.Arg46His | Missense | 1/12 | - |
1-63020816-C-A | DOCK7 | c.2596+680G>T | - | IntronicSNV | - | 21/48 |
3-170735099-G-A | SLC2A2 | c.108+1221C>T | - | IntronicSNV | - | 2/10 |
2-169759598-C-A | G6PC2 | c.328+534C>A | - | IntronicSNV | - | 2/4 |
2-169782149-A-G | ABCB11 | c.3619-836T>C | - | IntronicSNV | - | 26/27 |
16-53840525-C-T | FTO | c.46-3527C>T | - | IntronicSNV | - | 1/8 |
15-58724842-G-A | LIPC | c.88+523G>A | - | IntronicSNV | - | 1/8 |
1-62940097-G-A | DOCK7 | c.6013-338C>T | - | IntronicSNV | - | 46/48 |
16-57006829-T-G | CETP | c.751-414T>G | - | IntronicSNV | - | 8/15 |
1-63075826-G-A | DOCK7 | c.1682+8551C>T | - | IntronicSNV | - | 14/48 |
1-63042738-A-G | DOCK7 | c.2112+195T>C | - | IntronicSNV | - | 18/48 |
3-141125439-T-C | ZBTB38 | c.-1+2566T>C | - | intron_variant | - | 7/7 |
3-141139330-G-A | ZBTB38 | c.-1+16457G>A | - | intron_variant | - | 7/7 |
16-56999328-C-T | CETP | c.233+2292C>T | - | IntronicSNV | - | 2/15 |
8-19815256-A-T | LPL | c.1019-1515A>T | - | IntronicSNV | - | 6/9 |
1-63007721-A-T | DOCK7 | c.2952+558T>A | - | IntronicSNV | - | 24/48 |
2-148716428-T-A | ORC4 | c.233A>T | p.Asn78Ile | Missense | 5/14 | - |
2-148716428-T-G | ORC4 | c.233A>C | p.Asn78Thr | Missense | 5/14 | - |
1-63101123-G-A | DOCK7 | c.886-530C>T | - | IntronicSNV | - | 8/48 |
3-141073675-G-A | ZBTB38 | c.-738-13788G>A | - | intron_variant | - | 1/7 |
2-169812217-T-A | ABCB11 | c.2343+2257A>T | - | IntronicSNV | - | 19/27 |
2-169812217-T-C | ABCB11 | c.2343+2257A>G | - | IntronicSNV | - | 19/27 |
3-141087623-T-C | ZBTB38 | c.-578T>C | - | 5_prime_UTR_variant | 2/8 | - |
2-44084600-A-G | ABCG8 | c.964+4593A>G | - | IntronicSNV | - | 6/12 |
2-169706079-T-C | NOSTRIN | c.397-1515T>C | - | IntronicSNV | - | 7/14 |
11-117220429-A-C | CEP164 | c.195-2077A>C | - | IntronicSNV | - | 4/32 |
16-57010232-C-T | CETP | c.981+1169C>T | - | IntronicSNV | - | 10/15 |
16-53803156-G-A | FTO | c.46-40896G>A | - | IntronicSNV | - | 1/8 |
2-148716428-T-C | ORC4 | c.233A>G | p.Asn78Ser | Missense | 5/14 | - |
1-63101123-G-C | DOCK7 | c.886-530C>G | - | IntronicSNV | - | 8/48 |
3-141085972-T-C | ZBTB38 | c.-738-1491T>C | - | intron_variant | - | 1/7 |
19-11209764-C-T | LDLR | c.68-1135C>T | - | IntronicSNV | - | 1/17 |
19-11206530-T-C | LDLR | c.68-4369T>C | - | IntronicSNV | - | 1/17 |
1-62923863-C-T | DOCK7 | c.6120-487G>A | - | IntronicSNV | - | 47/48 |
16-53834608-G-A | FTO | c.46-9444G>A | - | IntronicSNV | - | 1/8 |
1-62991905-T-C | DOCK7 | c.3843+1917A>G | - | IntronicSNV | - | 30/48 |
3-141155857-A-G | ZBTB38 | c.1-5374A>G | - | IntronicSNV | - | 3/7 |
6-142655801-T-G | ADGRG6 | c.103+25020T>G | - | IntronicSNV | - | 2/24 |
1-234420503-G-A | SLC35F3 | c.609-24344G>A | - | IntronicSNV | - | 3/7 |
1-62950858-C-T | DOCK7 | c.5415+2211G>A | - | IntronicSNV | - | 42/48 |
2-169785449-A-C | ABCB11 | c.3412-1577T>G | - | IntronicSNV | - | 25/27 |
6-142717303-A-G | ADGRG6 | c.1341-1447A>G | - | IntronicSNV | - | 8/24 |
16-53822387-C-T | FTO | c.46-21665C>T | - | IntronicSNV | - | 1/8 |
2-169802310-G-A | ABCB11 | c.2344-839C>T | - | IntronicSNV | - | 19/27 |
16-57014319-A-G | CETP | c.1147-751A>G | - | IntronicSNV | - | 11/15 |
16-53800629-C-G | FTO | c.46-43423C>G | - | IntronicSNV | - | 1/8 |
16-57009376-T-A | CETP | c.981+313T>A | - | IntronicSNV | - | 10/15 |
16-53830867-T-C | FTO | c.46-13185T>C | - | IntronicSNV | - | 1/8 |
16-53830867-T-A | FTO | c.46-13185T>A | - | IntronicSNV | - | 1/8 |
7-44209322-G-A | GCK | c.46-16260C>T | - | IntronicSNV | - | 1/9 |
14-23865885-G-C | MYH6 | c.2292+18C>G | - | IntronicSNV | - | 19/38 |
6-142717303-A-T | ADGRG6 | c.1341-1447A>T | - | IntronicSNV | - | 8/24 |
16-53842908-G-A | FTO | c.46-1144G>A | - | IntronicSNV | - | 1/8 |
20-33907909-T-A | UQCC1 | c.574-5341A>T | - | IntronicSNV | - | 7/9 |
2-169803674-C-T | ABCB11 | c.2344-2203G>A | - | IntronicSNV | - | 19/27 |
2-169795467-A-G | ABCB11 | c.2611-2524T>C | - | IntronicSNV | - | 21/27 |
8-19797916-G-T | LPL | c.88+877G>T | - | IntronicSNV | - | 1/9 |
16-53834607-T-C | FTO | c.46-9445T>C | - | IntronicSNV | - | 1/8 |
19-11210314-G-A | LDLR | c.68-585G>A | - | IntronicSNV | - | 1/17 |
19-11209576-G-C | LDLR | c.68-1323G>C | - | IntronicSNV | - | 1/17 |
7-44259706-G-A | CAMK2B | c.1305C>T | p.Asn435Asn | Synonymous | 15/16 | - |
1-63112320-C-A | DOCK7 | c.818+1042G>T | - | IntronicSNV | - | 7/48 |
19-11209576-G-A | LDLR | c.68-1323G>A | - | IntronicSNV | - | 1/17 |
3-141094769-C-A | ZBTB38 | c.-479-5498C>A | - | intron_variant | - | 3/7 |
20-33914208-A-G | UQCC1 | c.574-11640T>C | - | IntronicSNV | - | 7/9 |
5-176819252-C-T | SLC34A1 | c.937-1443C>T | - | IntronicSNV | - | 8/12 |
20-33952620-G-A | UQCC1 | c.464+1740C>T | - | IntronicSNV | - | 6/9 |
2-169801628-A-C | ABCB11 | c.2344-157T>G | - | IntronicSNV | - | 19/27 |
8-19819077-T-A | LPL | c.1322+483T>A | - | IntronicSNV | - | 8/9 |
18-46754064-G-T | DYM | c.1460+29316C>A | - | IntronicSNV | - | 13/16 |
19-45176340-T-C | CEACAM19 | c.424+104T>C | - | IntronicSNV | - | 2/7 |
4-9944052-A-G | SLC2A9 | c.595-383T>C | - | IntronicSNV | - | 6/12 |
16-56997551-C-T | CETP | c.233+515C>T | - | IntronicSNV | - | 2/15 |
2-169812125-G-A | ABCB11 | c.2343+2349C>T | - | IntronicSNV | - | 19/27 |
6-126664333-C-A | CENPW | c.126+2788C>A | - | IntronicSNV | - | 1/2 |
6-126664333-C-T | CENPW | c.126+2788C>T | - | IntronicSNV | - | 1/2 |
8-19797916-G-C | LPL | c.88+877G>C | - | IntronicSNV | - | 1/9 |
1-63098235-G-A | DOCK7 | c.1116+934C>T | - | IntronicSNV | - | 10/48 |
20-33973315-T-G | UQCC1 | c.130-1379A>C | - | IntronicSNV | - | 2/9 |
20-33973315-T-A | UQCC1 | c.130-1379A>T | - | IntronicSNV | - | 2/9 |
3-141142691-G-T | ZBTB38 | c.1-18540G>T | - | IntronicSNV | - | 7/7 |
20-34023962-G-A | GDF5 | c.631+1116C>T | - | IntronicSNV | - | 1/1 |
15-58741384-C-G | LIPC | c.88+17065C>G | - | IntronicSNV | - | 1/8 |
19-11265020-G-A | SPC24 | c.160+1273C>T | - | IntronicSNV | - | 1/4 |
15-58724792-T-A | LIPC | c.88+473T>A | - | IntronicSNV | - | 1/8 |
5-176815124-T-C | SLC34A1 | c.774T>C | p.His258His | Synonymous | 7/13 | - |
20-33907909-T-G | UQCC1 | c.574-5341A>C | - | IntronicSNV | - | 7/9 |
5-74640490-C-T | HMGCR | c.365+333C>T | - | IntronicSNV | - | 4/19 |
14-23865885-G-A | MYH6 | c.2292+18C>T | - | IntronicSNV | - | 19/38 |
3-141101961-C-T | ZBTB38 | c.-417+1632C>T | - | intron_variant | - | 4/7 |
2-169813371-G-A | ABCB11 | c.2343+1103C>T | - | IntronicSNV | - | 19/27 |
1-62904295-C-T | USP1 | c.1-1244C>T | - | IntronicSNV | - | 1/8 |
2-44073656-T-C | ABCG8 | c.322+206T>C | - | IntronicSNV | - | 3/12 |
1-63056670-G-A | DOCK7 | c.1683-4375C>T | - | IntronicSNV | - | 14/48 |
7-44248828-G-A | YKT6 | c.459+1031G>A | - | IntronicSNV | - | 5/6 |
7-44248828-G-C | YKT6 | c.459+1031G>C | - | IntronicSNV | - | 5/6 |
7-151406220-A-G | PRKAG2 | c.467-33497T>C | - | IntronicSNV | - | 3/15 |
6-142691549-A-C | ADGRG6 | c.688A>C | p.Lys230Gln | Missense | 4/25 | - |
16-56834254-C-G | NUP93 | c.360+1804C>G | - | IntronicSNV | - | 4/21 |
2-169816936-G-A | ABCB11 | c.2179-2298C>T | - | IntronicSNV | - | 18/27 |
8-19813667-T-G | LPL | c.1018+73T>G | - | IntronicSNV | - | 6/9 |
1-62977419-G-A | DOCK7 | c.4190-1075C>T | - | IntronicSNV | - | 32/48 |
1-63099023-T-A | DOCK7 | c.1116+146A>T | - | IntronicSNV | - | 10/48 |
19-45672478-G-A | TRAPPC6A | c.127-4026C>T | - | IntronicSNV | - | 1/5 |
1-62926057-A-T | DOCK7 | c.6120-2681T>A | - | IntronicSNV | - | 47/48 |
16-56852822-G-T | NUP93 | c.564+172G>T | - | IntronicSNV | - | 6/21 |
19-11262969-G-T | SPC24 | c.161-3055C>A | - | IntronicSNV | - | 1/4 |
8-62481520-A-G | ASPH | c.1150-1643T>C | - | IntronicSNV | - | 16/24 |
5-74816944-C-T | POLK | c.-14+9205C>T | - | intron_variant | - | 1/14 |
2-169608348-T-G | CERS6 | c.846-13754T>G | - | IntronicSNV | - | 8/9 |
2-169802252-G-T | ABCB11 | c.2344-781C>A | - | IntronicSNV | - | 19/27 |
16-56863229-T-C | NUP93 | c.927+208T>C | - | IntronicSNV | - | 9/21 |
16-53819169-T-C | FTO | c.46-24883T>C | - | IntronicSNV | - | 1/8 |
20-33936338-G-A | UQCC1 | c.465-1263C>T | - | IntronicSNV | - | 6/9 |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
16-53813450-A-T | FTO | c.46-30602A>T | - | IntronicSNV | - | 1/8 |
6-142750516-A-G | ADGRG6 | c.3236-8055A>G | - | IntronicSNV | - | 21/24 |
16-53810686-T-C | FTO | c.46-33366T>C | - | IntronicSNV | - | 1/8 |
19-45357003-C-G | NECTIN2 | c.88+7133C>G | - | IntronicSNV | - | 1/5 |
1-63049593-C-T | DOCK7 | c.1801-668G>A | - | IntronicSNV | - | 15/48 |
2-169721381-A-G | NOSTRIN | c.1188A>G | p.Gly396Gly | Synonymous | 15/15 | - |
5-74909972-C-T | ANKDD1B | c.193+2320C>T | - | IntronicSNV | - | 1/13 |
15-58731567-A-G | LIPC | c.88+7248A>G | - | IntronicSNV | - | 1/8 |
6-142713842-G-A | ADGRG6 | c.1225-243G>A | - | IntronicSNV | - | 6/24 |
5-74909972-C-G | ANKDD1B | c.193+2320C>G | - | IntronicSNV | - | 1/13 |
20-33966260-T-C | UQCC1 | c.333+3461A>G | - | IntronicSNV | - | 4/9 |
16-56873840-G-A | NUP93 | c.2220+324G>A | - | IntronicSNV | - | 20/21 |
5-176824137-C-G | SLC34A1 | c.1416+62C>G | - | IntronicSNV | - | 12/12 |
5-176824137-C-T | SLC34A1 | c.1416+62C>T | - | IntronicSNV | - | 12/12 |
16-56996211-G-A | CETP | c.118+202G>A | - | IntronicSNV | - | 1/15 |
3-141109321-A-G | ZBTB38 | c.-351+3542A>G | - | intron_variant | - | 5/7 |
1-63025942-G-T | DOCK7 | c.2200-1051C>A | - | IntronicSNV | - | 19/48 |
1-62954971-T-C | DOCK7 | c.5269-235A>G | - | IntronicSNV | - | 40/48 |
19-45356141-C-T | NECTIN2 | c.88+6271C>T | - | IntronicSNV | - | 1/5 |
1-62927797-T-G | DOCK7 | c.6120-4421A>C | - | IntronicSNV | - | 47/48 |
20-34022387-A-T | GDF5 | c.826T>A | p.Ser276Thr | Missense | 2/2 | - |
20-34022387-A-C | GDF5 | c.826T>G | p.Ser276Ala | Missense | 2/2 | - |
1-109817245-C-T | CELSR2 | c.*574C>T | - | 3-UTRSNV | 34/34 | - |
3-170724883-T-C | SLC2A2 | c.612+54A>G | - | IntronicSNV | - | 5/10 |
15-58741884-T-A | LIPC | c.88+17565T>A | - | IntronicSNV | - | 1/8 |
15-58741884-T-C | LIPC | c.88+17565T>C | - | IntronicSNV | - | 1/8 |
1-109817245-C-G | CELSR2 | c.*574C>G | - | 3-UTRSNV | 34/34 | - |
8-19820405-G-A | LPL | c.1427+675G>A | - | IntronicSNV | - | 9/9 |
20-33912180-A-C | UQCC1 | c.574-9612T>G | - | IntronicSNV | - | 7/9 |
8-19818042-G-A | LPL | c.1140-370G>A | - | IntronicSNV | - | 7/9 |
19-45351891-A-G | NECTIN2 | c.88+2021A>G | - | IntronicSNV | - | 1/5 |
2-169781530-A-T | ABCB11 | c.3619-217T>A | - | IntronicSNV | - | 26/27 |
5-176814656-G-A | SLC34A1 | c.533-107G>A | - | IntronicSNV | - | 5/12 |
16-56856955-G-A | NUP93 | c.655-664G>A | - | IntronicSNV | - | 7/21 |
1-62926371-A-G | DOCK7 | c.6120-2995T>C | - | IntronicSNV | - | 47/48 |
20-33968067-T-C | UQCC1 | c.333+1654A>G | - | IntronicSNV | - | 4/9 |
1-62968491-C-G | DOCK7 | c.4671+1810G>C | - | IntronicSNV | - | 36/48 |
1-62968491-C-T | DOCK7 | c.4671+1810G>A | - | IntronicSNV | - | 36/48 |
1-62922660-G-A | DOCK7 | c.6287+549C>T | - | IntronicSNV | - | 48/48 |
16-57017319-G-A | CETP | c.1403G>A | p.Arg468Gln | Missense | 15/16 | - |
20-33959315-T-C | UQCC1 | c.406+2672A>G | - | IntronicSNV | - | 5/9 |
20-33959315-T-A | UQCC1 | c.406+2672A>T | - | IntronicSNV | - | 5/9 |
19-11212470-T-A | LDLR | c.191-870T>A | - | IntronicSNV | - | 2/17 |
16-56865374-G-A | NUP93 | c.1086-380G>A | - | IntronicSNV | - | 10/21 |
16-56900100-A-G | SLC12A3 | c.282+671A>G | - | IntronicSNV | - | 1/25 |
20-33986271-T-C | UQCC1 | c.25-4272A>G | - | IntronicSNV | - | 1/9 |
3-170727351-G-A | SLC2A2 | c.496+396C>T | - | IntronicSNV | - | 4/10 |
16-57000938-G-A | CETP | c.234-2360G>A | - | IntronicSNV | - | 2/15 |
20-36842883-A-G | KIAA1755 | c.2902-738T>C | - | IntronicSNV | - | 13/13 |
20-33913322-G-T | UQCC1 | c.574-10754C>A | - | IntronicSNV | - | 7/9 |
20-33913322-G-A | UQCC1 | c.574-10754C>T | - | IntronicSNV | - | 7/9 |
6-142661156-G-T | ADGRG6 | c.104-27550G>T | - | IntronicSNV | - | 2/24 |
3-170734377-T-C | SLC2A2 | c.109-1857A>G | - | IntronicSNV | - | 2/10 |
5-176817636-A-G | SLC34A1 | c.936+2263A>G | - | IntronicSNV | - | 8/12 |
2-169816936-G-C | ABCB11 | c.2179-2298C>G | - | IntronicSNV | - | 18/27 |
1-62912120-C-G | USP1 | c.1250-892C>G | - | IntronicSNV | - | 6/8 |
16-53826028-T-A | FTO | c.46-18024T>A | - | IntronicSNV | - | 1/8 |
1-63090858-C-T | DOCK7 | c.1425+72G>A | - | IntronicSNV | - | 12/48 |
1-62988972-T-A | DOCK7 | c.3843+4850A>T | - | IntronicSNV | - | 30/48 |
6-142753338-G-A | ADGRG6 | c.3236-5233G>A | - | IntronicSNV | - | 21/24 |
2-169814655-G-A | ABCB11 | c.2179-17C>T | - | IntronicSNV | - | 18/27 |
5-32773275-A-G | NPR3 | c.1060-1539A>G | - | IntronicSNV | - | 3/7 |
14-23864804-T-C | MYH6 | c.2429+689A>G | - | IntronicSNV | - | 20/38 |
2-169814655-G-T | ABCB11 | c.2179-17C>A | - | IntronicSNV | - | 18/27 |
1-62949034-A-T | DOCK7 | c.5415+4035T>A | - | IntronicSNV | - | 42/48 |
8-19813529-A-G | LPL | c.953A>G | p.Asn318Ser | Missense | 6/10 | - |
6-142648235-G-A | ADGRG6 | c.103+17454G>A | - | IntronicSNV | - | 2/24 |
8-19824045-C-A | LPL | c.*1224C>A | - | 3-UTRSNV | 10/10 | - |
16-57001438-G-A | CETP | c.234-1860G>A | - | IntronicSNV | - | 2/15 |
16-57006590-C-G | CETP | c.750+595C>G | - | IntronicSNV | - | 8/15 |
2-44066247-G-C | ABCG8 | c.55G>C | p.Asp19His | Missense | 1/13 | - |
16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
3-141092050-G-C | ZBTB38 | c.-480+3262G>C | - | intron_variant | - | 3/7 |
6-142745883-T-G | ADGRG6 | c.3235+4642T>G | - | IntronicSNV | - | 21/24 |
2-169789016-T-C | ABCB11 | c.3084A>G | p.Ala1028Ala | Synonymous | 24/28 | - |
16-56834254-C-A | NUP93 | c.360+1804C>A | - | IntronicSNV | - | 4/21 |
7-44204322-G-A | GCK | c.46-11260C>T | - | IntronicSNV | - | 1/9 |
6-142703669-C-T | ADGRG6 | c.1138+513C>T | - | IntronicSNV | - | 5/24 |
1-62967987-C-T | DOCK7 | c.4671+2314G>A | - | IntronicSNV | - | 36/48 |
6-142703669-C-G | ADGRG6 | c.1138+513C>G | - | IntronicSNV | - | 5/24 |
6-142703669-C-A | ADGRG6 | c.1138+513C>A | - | IntronicSNV | - | 5/24 |
1-63133930-G-A | DOCK7 | c.39-5129C>T | - | IntronicSNV | - | 1/48 |
15-89392091-A-G | ACAN | c.1733-578A>G | - | IntronicSNV | - | 9/15 |
7-44216137-G-A | GCK | c.45+12371C>T | - | IntronicSNV | - | 1/9 |
1-62982891-C-A | DOCK7 | c.3844-3322G>T | - | IntronicSNV | - | 30/48 |
1-62982891-C-T | DOCK7 | c.3844-3322G>A | - | IntronicSNV | - | 30/48 |
1-62906728-C-T | USP1 | c.171-431C>T | - | IntronicSNV | - | 2/8 |
19-45315445-G-C | BCAM | c.230G>C | p.Arg77Pro | Missense | 3/15 | - |
20-33987576-G-A | UQCC1 | c.25-5577C>T | - | IntronicSNV | - | 1/9 |
19-45315445-G-A | BCAM | c.230G>A | p.Arg77His | Missense | 3/15 | - |
20-33987576-G-C | UQCC1 | c.25-5577C>G | - | IntronicSNV | - | 1/9 |
7-44226090-C-G | GCK | c.45+2418G>C | - | IntronicSNV | - | 1/9 |
1-63145439-G-A | DOCK7 | c.38+8459C>T | - | IntronicSNV | - | 1/48 |
2-169605967-G-A | CERS6 | c.846-16135G>A | - | IntronicSNV | - | 8/9 |
5-176817583-A-T | SLC34A1 | c.936+2210A>T | - | IntronicSNV | - | 8/12 |
20-33992761-T-A | UQCC1 | c.24+6982A>T | - | IntronicSNV | - | 1/9 |
19-45187163-A-G | CEACAM19 | c.*401A>G | - | 3-UTRSNV | 8/8 | - |
8-118185733-A-G | SLC30A8 | c.*813A>G | - | 3-UTRSNV | 8/8 | - |
2-21232804-G-A | APOB | c.6936C>T | p.Asp2312Asp | Synonymous | 26/29 | - |
1-63040728-G-T | DOCK7 | c.2112+2205C>A | - | IntronicSNV | - | 18/48 |
1-62960250-T-C | DOCK7 | c.4932-112A>G | - | IntronicSNV | - | 38/48 |
2-169809672-G-T | ABCB11 | c.2343+4802C>A | - | IntronicSNV | - | 19/27 |
16-53818460-G-T | FTO | c.46-25592G>T | - | IntronicSNV | - | 1/8 |
16-56996288-G-A | CETP | c.118+279G>A | - | IntronicSNV | - | 1/15 |
5-74808237-G-T | POLK | c.-14+498G>T | - | intron_variant | - | 1/14 |
15-58725839-A-G | LIPC | c.88+1520A>G | - | IntronicSNV | - | 1/8 |
3-170734438-A-G | SLC2A2 | c.108+1882T>C | - | IntronicSNV | - | 2/10 |
1-62999595-C-G | DOCK7 | c.3518+1569G>C | - | IntronicSNV | - | 28/48 |
19-45303311-G-A | CBLC | c.1363-327G>A | - | IntronicSNV | - | 9/10 |
16-57007353-C-T | CETP | c.861C>T | p.Phe287Phe | Synonymous | 9/16 | - |
5-74816944-C-G | POLK | c.-14+9205C>G | - | intron_variant | - | 1/14 |
20-33924130-C-A | UQCC1 | c.573+10837G>T | - | IntronicSNV | - | 7/9 |
2-169802252-G-A | ABCB11 | c.2344-781C>T | - | IntronicSNV | - | 19/27 |
5-176819252-C-G | SLC34A1 | c.937-1443C>G | - | IntronicSNV | - | 8/12 |
20-33969530-C-T | UQCC1 | c.333+191G>A | - | IntronicSNV | - | 4/9 |
3-193362377-T-C | OPA1 | c.1608+483T>C | - | IntronicSNV | - | 16/30 |
1-63130431-C-T | DOCK7 | c.39-1630G>A | - | IntronicSNV | - | 1/48 |
2-44055922-C-T | ABCG5 | c.502-668G>A | - | IntronicSNV | - | 4/12 |
1-63056112-G-A | DOCK7 | c.1683-3817C>T | - | IntronicSNV | - | 14/48 |
6-142724918-C-T | ADGRG6 | c.1872-21C>T | - | IntronicSNV | - | 12/24 |
20-33903636-C-T | UQCC1 | c.574-1068G>A | - | IntronicSNV | - | 7/9 |
20-33903636-C-G | UQCC1 | c.574-1068G>C | - | IntronicSNV | - | 7/9 |
2-169797640-G-T | ABCB11 | c.2610+3475C>A | - | IntronicSNV | - | 21/27 |
2-169779712-T-C | ABCB11 | c.*420A>G | - | 3-UTRSNV | 28/28 | - |
20-33995972-C-T | UQCC1 | c.24+3771G>A | - | IntronicSNV | - | 1/9 |
3-141096736-C-T | ZBTB38 | c.-479-3531C>T | - | intron_variant | - | 3/7 |
2-21259562-T-C | APOB | c.693+410A>G | - | IntronicSNV | - | 6/28 |
2-169780366-T-C | ABCB11 | c.3766-34A>G | - | IntronicSNV | - | 27/27 |
2-169806298-C-T | ABCB11 | c.2344-4827G>A | - | IntronicSNV | - | 19/27 |
8-19813702-G-T | LPL | c.1018+108G>T | - | IntronicSNV | - | 6/9 |
16-56908884-G-A | SLC12A3 | c.1095+2186G>A | - | IntronicSNV | - | 8/25 |
12-4384844-T-G | CCND2 | c.196-327T>G | - | IntronicSNV | - | 1/4 |
8-19813702-G-A | LPL | c.1018+108G>A | - | IntronicSNV | - | 6/9 |
8-118185025-G-A | SLC30A8 | c.*105G>A | - | 3-UTRSNV | 8/8 | - |
1-63130991-G-A | DOCK7 | c.39-2190C>T | - | IntronicSNV | - | 1/48 |
5-74651909-G-A | HMGCR | c.1881-259G>A | - | IntronicSNV | - | 14/19 |
16-56856572-A-G | NUP93 | c.655-1047A>G | - | IntronicSNV | - | 7/21 |
6-142746992-G-T | ADGRG6 | c.3235+5751G>T | - | IntronicSNV | - | 21/24 |
1-62967747-A-G | DOCK7 | c.4671+2554T>C | - | IntronicSNV | - | 36/48 |
6-142746992-G-A | ADGRG6 | c.3235+5751G>A | - | IntronicSNV | - | 21/24 |
6-142724439-T-C | ADGRG6 | c.1871+472T>C | - | IntronicSNV | - | 12/24 |
2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
1-63111069-G-C | DOCK7 | c.818+2293C>G | - | IntronicSNV | - | 7/48 |
16-57002663-C-G | CETP | c.234-635C>G | - | IntronicSNV | - | 2/15 |
16-57002663-C-T | CETP | c.234-635C>T | - | IntronicSNV | - | 2/15 |
15-58735222-A-C | LIPC | c.88+10903A>C | - | IntronicSNV | - | 1/8 |
5-74666492-C-T | COL4A3BP | c.*3534G>A | - | 3_prime_UTR_variant | 18/18 | - |
6-142706063-C-T | ADGRG6 | c.1138+2907C>T | - | IntronicSNV | - | 5/24 |
20-34025983-A-G | GDF5 | c.1-275T>C | - | 5-UTRSNV | 1/2 | - |
5-74666492-C-A | COL4A3BP | c.*3534G>T | - | 3_prime_UTR_variant | 18/18 | - |
1-63105538-T-A | DOCK7 | c.819-3264A>T | - | IntronicSNV | - | 7/48 |
7-44219074-T-C | GCK | c.45+9434A>G | - | IntronicSNV | - | 1/9 |
2-44057570-A-G | ABCG5 | c.501+1338T>C | - | IntronicSNV | - | 4/12 |
20-33960308-C-T | UQCC1 | c.406+1679G>A | - | IntronicSNV | - | 5/9 |
20-33960308-C-G | UQCC1 | c.406+1679G>C | - | IntronicSNV | - | 5/9 |
1-62939466-G-C | DOCK7 | c.6119+187C>G | - | IntronicSNV | - | 47/48 |
6-26184102-G-T | HIST1H2BE | c.79G>T | p.Gly27Cys | Missense | 1/1 | - |
7-44211337-T-C | GCK | c.45+17171A>G | - | IntronicSNV | - | 1/9 |
20-33894463-A-G | UQCC1 | c.765+6T>C | - | IntronicSNV | - | 9/9 |
2-44056148-A-T | ABCG5 | c.502-894T>A | - | IntronicSNV | - | 4/12 |
1-62903547-C-T | USP1 | c.-70+1314C>T | - | intron_variant | - | 1/8 |
19-8429323-G-A | ANGPTL4 | c.118G>A | p.Glu40Lys | Missense | 1/7 | - |
2-44057570-A-C | ABCG5 | c.501+1338T>G | - | IntronicSNV | - | 4/12 |
1-63094207-A-G | DOCK7 | c.1282+2704T>C | - | IntronicSNV | - | 11/48 |
9-107666414-T-C | ABCA1 | c.1-454A>G | - | IntronicSNV | - | 1/49 |
16-53831354-C-T | FTO | c.46-12698C>T | - | IntronicSNV | - | 1/8 |
16-53819937-A-T | FTO | c.46-24115A>T | - | IntronicSNV | - | 1/8 |
3-141115219-T-C | ZBTB38 | c.-232T>C | - | 5_prime_UTR_variant | 6/8 | - |
3-141115219-T-A | ZBTB38 | c.-232T>A | - | 5_prime_UTR_variant | 6/8 | - |
6-26184102-G-C | HIST1H2BE | c.79G>C | p.Gly27Arg | Missense | 1/1 | - |
1-62999675-C-T | DOCK7 | c.3518+1489G>A | - | IntronicSNV | - | 28/48 |
1-62903359-T-C | USP1 | c.-70+1126T>C | - | intron_variant | - | 1/8 |
16-53831771-G-T | FTO | c.46-12281G>T | - | IntronicSNV | - | 1/8 |
20-33910941-C-T | UQCC1 | c.574-8373G>A | - | IntronicSNV | - | 7/9 |
11-117018764-T-G | PAFAH1B2 | c.-8+3630T>G | - | intron_variant | - | 1/5 |
3-170715830-G-A | SLC2A2 | c.1437C>T | p.Phe479Phe | Synonymous | 11/11 | - |
3-170715830-G-T | SLC2A2 | c.1437C>A | p.Phe479Leu | Missense | 11/11 | - |
6-142687305-C-T | ADGRG6 | c.104-1401C>T | - | IntronicSNV | - | 2/24 |
20-33925094-T-G | UQCC1 | c.573+9873A>C | - | IntronicSNV | - | 7/9 |
20-33925094-T-C | UQCC1 | c.573+9873A>G | - | IntronicSNV | - | 7/9 |
3-141133960-G-A | ZBTB38 | c.-1+11087G>A | - | intron_variant | - | 7/7 |
15-58737661-C-A | LIPC | c.88+13342C>A | - | IntronicSNV | - | 1/8 |
1-62989807-C-T | DOCK7 | c.3843+4015G>A | - | IntronicSNV | - | 30/48 |
16-56834254-C-T | NUP93 | c.360+1804C>T | - | IntronicSNV | - | 4/21 |
7-44200884-T-C | GCK | c.46-7822A>G | - | IntronicSNV | - | 1/9 |
19-45253491-C-T | BCL3 | c.257-993C>T | - | IntronicSNV | - | 1/8 |
7-44243438-G-C | YKT6 | c.105-729G>C | - | IntronicSNV | - | 1/6 |
1-62945418-A-C | DOCK7 | c.5416-1922T>G | - | IntronicSNV | - | 42/48 |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
16-57010486-C-T | CETP | c.981+1423C>T | - | IntronicSNV | - | 10/15 |
1-63127705-C-T | DOCK7 | c.144+991G>A | - | IntronicSNV | - | 2/48 |
20-34025756-A-G | GDF5 | c.1-48T>C | - | 5-UTRSNV | 1/2 | - |
16-53818708-G-T | FTO | c.46-25344G>T | - | IntronicSNV | - | 1/8 |
1-63129082-T-C | DOCK7 | c.39-281A>G | - | IntronicSNV | - | 1/48 |
1-63049593-C-G | DOCK7 | c.1801-668G>C | - | IntronicSNV | - | 15/48 |
1-62963737-G-A | DOCK7 | c.4672-1569C>T | - | IntronicSNV | - | 36/48 |
16-57017662-G-A | CETP | c.*84G>A | - | 3-UTRSNV | 16/16 | - |
6-142703877-G-A | ADGRG6 | c.1138+721G>A | - | IntronicSNV | - | 5/24 |
16-53822440-G-A | FTO | c.46-21612G>A | - | IntronicSNV | - | 1/8 |
1-62977419-G-T | DOCK7 | c.4190-1075C>A | - | IntronicSNV | - | 32/48 |
15-58740094-C-G | LIPC | c.88+15775C>G | - | IntronicSNV | - | 1/8 |
16-53810546-C-A | FTO | c.46-33506C>A | - | IntronicSNV | - | 1/8 |
3-141133960-G-C | ZBTB38 | c.-1+11087G>C | - | intron_variant | - | 7/7 |
5-74757556-G-A | COL4A3BP | c.232-2550C>T | - | IntronicSNV | - | 2/17 |
7-44216754-C-T | GCK | c.45+11754G>A | - | IntronicSNV | - | 1/9 |
13-28497828-A-G | PDX1 | c.407-565A>G | - | IntronicSNV | - | 1/1 |
1-63128081-C-T | DOCK7 | c.144+615G>A | - | IntronicSNV | - | 2/48 |
14-23874117-T-C | MYH6 | c.531-86A>G | - | IntronicSNV | - | 6/38 |
16-57010948-T-G | CETP | c.982-1055T>G | - | IntronicSNV | - | 10/15 |
3-141109348-C-T | ZBTB38 | c.-351+3569C>T | - | intron_variant | - | 5/7 |
20-33905904-C-G | UQCC1 | c.574-3336G>C | - | IntronicSNV | - | 7/9 |
6-142766347-C-G | ADGRG6 | c.*1828C>G | - | 3-UTRSNV | 25/25 | - |
1-63009956-C-T | DOCK7 | c.2767-540G>A | - | IntronicSNV | - | 22/48 |
19-45448465-T-A | APOC4 | c.287T>A | p.Leu96His | Missense | 3/3 | - |
16-56872824-G-A | NUP93 | c.2019-40G>A | - | IntronicSNV | - | 18/21 |
1-62981440-G-A | DOCK7 | c.3844-1871C>T | - | IntronicSNV | - | 30/48 |
6-142703483-A-G | ADGRG6 | c.1138+327A>G | - | IntronicSNV | - | 5/24 |
3-141128804-G-A | ZBTB38 | c.-1+5931G>A | - | intron_variant | - | 7/7 |
3-141128804-G-C | ZBTB38 | c.-1+5931G>C | - | intron_variant | - | 7/7 |
2-169802310-G-T | ABCB11 | c.2344-839C>A | - | IntronicSNV | - | 19/27 |
20-33998486-C-T | UQCC1 | c.24+1257G>A | - | IntronicSNV | - | 1/9 |
20-33905904-C-A | UQCC1 | c.574-3336G>T | - | IntronicSNV | - | 7/9 |
19-45448465-T-G | APOC4 | c.287T>G | p.Leu96Arg | Missense | 3/3 | - |