Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
19-49206417-A-G | FUT2 | c.204A>G | p.Ala68Ala | Synonymous | 2/2 | - |
7-73017005-A-G | MLXIPL | c.902-2980T>C | - | IntronicSNV | - | 7/16 |
11-116701122-C-G | APOC3 | c.1-177C>G | - | IntronicSNV | - | 1/3 |
11-116701122-C-A | APOC3 | c.1-177C>A | - | IntronicSNV | - | 1/3 |
16-57017319-G-A | CETP | c.1403G>A | p.Arg468Gln | Missense | 15/16 | - |
3-136080537-G-C | STAG1 | c.2787+1671C>G | - | IntronicSNV | - | 26/33 |
5-52193237-A-G | ITGA1 | c.1091-49A>G | - | IntronicSNV | - | 9/28 |
3-136080537-G-T | STAG1 | c.2787+1671C>A | - | IntronicSNV | - | 26/33 |
2-70524142-A-G | FAM136A | c.*279T>C | - | 3-UTRSNV | 3/3 | - |
1-55518467-A-G | PCSK9 | c.799+3A>G | - | IntronicSNV | - | 5/11 |
9-86617265-A-T | RMI1 | c.1364A>T | p.Asn455Ile | Missense | 3/3 | - |
9-86617265-A-G | RMI1 | c.1364A>G | p.Asn455Ser | Missense | 3/3 | - |
20-44585420-A-G | ZNF335 | c.2442+805T>C | - | IntronicSNV | - | 17/27 |
1-63133468-T-A | DOCK7 | c.39-4667A>T | - | IntronicSNV | - | 1/48 |
6-127493141-G-A | RSPO3 | c.634+16558G>A | - | IntronicSNV | - | 4/4 |
20-7961715-G-T | TMX4 | c.*1183C>A | - | 3-UTRSNV | 8/8 | - |
2-44066247-G-C | ABCG8 | c.55G>C | p.Asp19His | Missense | 1/13 | - |
9-2640759-A-G | VLDLR | c.326-618A>G | - | IntronicSNV | - | 3/18 |
1-63133930-G-A | DOCK7 | c.39-5129C>T | - | IntronicSNV | - | 1/48 |
7-12269417-C-A | TMEM106B | c.554C>A | p.Thr185Asn | Missense | 6/9 | - |
19-52324216-G-C | FPR3 | c.1-2786G>C | - | IntronicSNV | - | 1/1 |
19-52324216-G-A | FPR3 | c.1-2786G>A | - | IntronicSNV | - | 1/1 |
7-87076587-C-A | ABCB4 | c.834-66G>T | - | IntronicSNV | - | 8/27 |
11-116883777-G-A | SIK3 | c.274-55997C>T | - | intron_variant | - | 1/23 |
11-116883777-G-T | SIK3 | c.274-55997C>A | - | intron_variant | - | 1/23 |
22-37462936-A-T | TMPRSS6 | c.2207T>A | p.Val736Asp | Missense | 17/18 | - |
9-107662304-G-A | ABCA1 | c.66+3591C>T | - | IntronicSNV | - | 2/49 |
4-3473139-A-G | DOK7 | c.101-1994A>G | - | IntronicSNV | - | 2/6 |
11-61597972-A-G | FADS2 | c.207+1903A>G | - | IntronicSNV | - | 1/11 |
15-93604505-C-A | RGMA | c.131-8768G>T | - | IntronicSNV | - | 2/3 |
2-136403749-C-T | R3HDM1 | c.1623+652C>T | - | IntronicSNV | - | 16/25 |
16-56908884-G-A | SLC12A3 | c.1095+2186G>A | - | IntronicSNV | - | 8/25 |
3-132209203-A-G | DNAJC13 | c.3469-538A>G | - | IntronicSNV | - | 31/55 |
16-56856572-A-G | NUP93 | c.655-1047A>G | - | IntronicSNV | - | 7/21 |
1-55520408-G-C | PCSK9 | c.800-1258G>C | - | IntronicSNV | - | 5/11 |
2-44072576-G-T | ABCG8 | c.166-718G>T | - | IntronicSNV | - | 2/12 |
1-220985811-T-C | MARC1 | c.888-823T>C | - | IntronicSNV | - | 6/6 |
6-127452639-C-G | RSPO3 | c.97+12205C>G | - | IntronicSNV | - | 1/4 |
19-17299146-G-A | MYO9B | c.2688+292G>A | - | IntronicSNV | - | 19/39 |
17-66882466-T-G | ABCA8 | c.3309+692A>C | - | IntronicSNV | - | 24/37 |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
16-85707367-G-C | GSE1 | c.*1222G>C | - | 3-UTRSNV | 16/16 | - |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
17-486821-C-A | VPS53 | c.1226+2689G>T | - | IntronicSNV | - | 12/17 |
7-107140239-A-G | COG5 | c.631+27443T>C | - | IntronicSNV | - | 6/20 |
22-46627603-C-T | PPARA | c.712-86C>T | - | IntronicSNV | - | 6/7 |
17-486821-C-T | VPS53 | c.1226+2689G>A | - | IntronicSNV | - | 12/17 |
8-116663898-G-A | TRPS1 | c.-122+16874C>T | - | intron_variant | - | 1/6 |
12-124491529-G-C | ZNF664 | c.-660-4399G>C | - | intron_variant | - | 3/4 |
16-53809247-G-A | FTO | c.46-34805G>A | - | IntronicSNV | - | 1/8 |
5-74656539-T-G | HMGCR | c.*372T>G | - | 3-UTRSNV | 20/20 | - |
16-78007470-A-T | VAT1L | c.1161+1640A>T | - | IntronicSNV | - | 8/8 |
2-21231524-G-A | APOB | c.8216C>T | p.Pro2739Leu | Missense | 26/29 | - |
19-10813364-T-C | QTRT1 | c.451+434T>C | - | IntronicSNV | - | 3/9 |
12-126018205-G-C | TMEM132B | c.1278+14034G>C | - | IntronicSNV | - | 4/8 |
16-78007470-A-C | VAT1L | c.1161+1640A>C | - | IntronicSNV | - | 8/8 |
1-230304051-C-T | GALNT2 | c.127-9913C>T | - | IntronicSNV | - | 1/15 |
12-121416650-A-T | HNF1A | c.79A>T | p.Ile27Phe | Missense | 1/10 | - |
12-123830939-C-T | SBNO1 | c.238-825G>A | - | IntronicSNV | - | 3/31 |
7-138455108-A-G | ATP6V0A4 | c.117+768T>C | - | IntronicSNV | - | 3/21 |
8-145043543-A-G | PLEC | c.193+5802T>C | - | IntronicSNV | - | 2/32 |
4-3186244-A-G | HTT | c.4866+2047A>G | - | IntronicSNV | - | 37/66 |
2-21231524-G-T | APOB | c.8216C>A | p.Pro2739Gln | Missense | 26/29 | - |
3-170739663-G-A | SLC2A2 | c.16-3251C>T | - | IntronicSNV | - | 1/10 |
11-126243952-G-A | ST3GAL4 | c.-61+17755G>A | - | intron_variant | - | 1/10 |
12-126018205-G-A | TMEM132B | c.1278+14034G>A | - | IntronicSNV | - | 4/8 |
1-109817192-A-G | CELSR2 | c.*521A>G | - | 3-UTRSNV | 34/34 | - |
2-44066247-G-A | ABCG8 | c.55G>A | p.Asp19Asn | Missense | 1/13 | - |
1-230294715-C-T | GALNT2 | c.127-19249C>T | - | IntronicSNV | - | 1/15 |
4-87982876-C-T | AFF1 | c.1038+14130C>T | - | IntronicSNV | - | 3/19 |
4-87982876-C-A | AFF1 | c.1038+14130C>A | - | IntronicSNV | - | 3/19 |
12-101873956-C-T | SPIC | c.210+484C>T | - | IntronicSNV | - | 4/5 |
2-44074000-G-A | ABCG8 | c.322+550G>A | - | IntronicSNV | - | 3/12 |
16-72057282-A-G | DHODH | c.973+65A>G | - | IntronicSNV | - | 7/8 |
7-72881807-C-T | BAZ1B | c.2867-1076G>A | - | IntronicSNV | - | 9/19 |
19-10970558-A-C | C19orf38 | c.462-33A>C | - | IntronicSNV | - | 4/6 |
13-32953388-T-C | BRCA2 | c.8755-66T>C | - | IntronicSNV | - | 21/26 |
11-61552680-G-T | MYRF | c.3181-592G>T | - | IntronicSNV | - | 24/25 |
12-121423285-T-G | HNF1A | c.327-3351T>G | - | IntronicSNV | - | 1/9 |
6-137076010-C-T | MAP3K5 | c.449-34283G>A | - | IntronicSNV | - | 1/29 |
16-72144174-T-G | DHX38 | c.3478-681T>G | - | IntronicSNV | - | 25/26 |
19-49218060-C-T | MAMSTR | c.219+3G>A | - | IntronicSNV | - | 4/7 |
12-123796238-C-T | SBNO1 | c.3218-562G>A | - | IntronicSNV | - | 24/31 |
3-112936246-C-T | BOC | c.-82+1125C>T | - | intron_variant | - | 2/19 |
19-8461663-G-A | RAB11B | c.41-3084G>A | - | IntronicSNV | - | 1/4 |
17-37813856-G-C | STARD3 | c.298-172G>C | - | IntronicSNV | - | 3/14 |
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 |
19-35556744-T-C | HPN | c.1051-28T>C | - | IntronicSNV | - | 12/13 |
9-136141870-C-T | ABO | c.29-4299G>A | - | IntronicSNV | - | 1/7 |
1-55631650-G-A | USP24 | c.862-27C>T | - | IntronicSNV | - | 6/67 |
1-156700651-T-G | RRNAD1 | c.112-1132T>G | - | IntronicSNV | - | 1/7 |
4-87982876-C-G | AFF1 | c.1038+14130C>G | - | IntronicSNV | - | 3/19 |
1-55631650-G-T | USP24 | c.862-27C>A | - | IntronicSNV | - | 6/67 |
12-112007756-C-T | ATXN2 | c.252-14033G>A | - | intron_variant | - | 1/24 |
16-57007446-T-A | CETP | c.930+24T>A | - | IntronicSNV | - | 9/15 |
16-57007446-T-G | CETP | c.930+24T>G | - | IntronicSNV | - | 9/15 |
2-21239866-T-A | APOB | c.3122-345A>T | - | IntronicSNV | - | 20/28 |
15-58726744-G-C | LIPC | c.88+2425G>C | - | IntronicSNV | - | 1/8 |
7-17911038-C-T | SNX13 | c.753+2113G>A | - | IntronicSNV | - | 8/25 |
7-78001018-T-C | MAGI2 | c.1046-2488A>G | - | IntronicSNV | - | 6/21 |
11-47298360-G-A | MADD | c.1041G>A | p.Glu347Glu | Synonymous | 5/33 | - |
10-134459388-A-G | INPP5A | c.134A>G | p.Lys45Arg | Missense | 3/16 | - |
1-10556447-G-C | PEX14 | c.84+1069G>C | - | IntronicSNV | - | 2/8 |
19-45574113-T-C | CLASRP | c.*10T>C | - | 3-UTRSNV | 21/21 | - |
19-45574113-T-G | CLASRP | c.*10T>G | - | 3-UTRSNV | 21/21 | - |
12-125283766-C-T | SCARB1 | c.1128+904G>A | - | IntronicSNV | - | 8/12 |
6-36645696-A-G | CDKN1A | c.-20A>G | - | 5_prime_UTR_variant | 2/4 | - |
1-10556447-G-T | PEX14 | c.84+1069G>T | - | IntronicSNV | - | 2/8 |
12-46200396-G-T | ARID2 | c.285-4805G>T | - | IntronicSNV | - | 3/20 |
21-33059831-T-C | SCAF4 | c.2043+789A>G | - | IntronicSNV | - | 16/19 |
4-89741269-G-C | FAM13A | c.29+2858C>G | - | IntronicSNV | - | 1/17 |
6-160980330-T-C | LPA | c.4632-1727A>G | - | IntronicSNV | - | 28/38 |
2-135762344-C-T | MAP3K19 | c.235+661G>A | - | IntronicSNV | - | 3/9 |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
19-45296806-C-T | CBLC | c.1213C>T | p.His405Tyr | Missense | 8/11 | - |
10-113933886-A-T | GPAM | c.414-283T>A | - | IntronicSNV | - | 6/21 |
6-35278796-A-C | DEF6 | c.423+375A>C | - | IntronicSNV | - | 3/10 |
19-45296806-C-G | CBLC | c.1213C>G | p.His405Asp | Missense | 8/11 | - |
10-113933886-A-G | GPAM | c.414-283T>C | - | IntronicSNV | - | 6/21 |
6-35278796-A-T | DEF6 | c.423+375A>T | - | IntronicSNV | - | 3/10 |
4-89741269-G-A | FAM13A | c.29+2858C>T | - | IntronicSNV | - | 1/17 |
16-53809247-G-C | FTO | c.46-34805G>C | - | IntronicSNV | - | 1/8 |
19-10970558-A-G | C19orf38 | c.462-33A>G | - | IntronicSNV | - | 4/6 |
2-44099582-G-A | ABCG8 | c.1211+137G>A | - | IntronicSNV | - | 8/12 |
19-45382034-A-G | NECTIN2 | c.*157A>G | - | 3-UTRSNV | 6/6 | - |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
12-51055708-C-T | DIP2B | c.427+1606C>T | - | IntronicSNV | - | 4/37 |
10-5254847-A-G | AKR1C4 | c.681-110A>G | - | IntronicSNV | - | 6/8 |
18-47457559-T-C | MYO5B | c.2004-1591A>G | - | IntronicSNV | - | 16/39 |
11-122534504-T-C | UBASH3B | c.161+7586T>C | - | IntronicSNV | - | 1/13 |
3-60524340-A-G | FHIT | c.1-1645T>C | - | IntronicSNV | - | 3/9 |
22-50878927-G-A | PPP6R2 | c.2294-324G>A | - | IntronicSNV | - | 20/22 |
3-132163200-G-T | DNAJC13 | c.69-2119G>T | - | IntronicSNV | - | 2/55 |
12-125338529-C-T | SCARB1 | c.126+9612G>A | - | IntronicSNV | - | 1/12 |
19-54783375-T-A | LILRB2 | c.483A>T | p.Glu161Asp | Missense | 5/14 | - |
6-116312893-A-T | FRK | c.466+12147T>A | - | IntronicSNV | - | 2/7 |
7-138455108-A-C | ATP6V0A4 | c.117+768T>G | - | IntronicSNV | - | 3/21 |
11-61573684-T-C | FADS1 | c.976+452A>G | - | IntronicSNV | - | 6/11 |
18-21161134-C-T | NPC1 | c.57+5117G>A | - | IntronicSNV | - | 1/24 |
11-13355770-C-T | ARNTL | c.-135+7756C>T | - | intron_variant | - | 3/19 |
2-63149557-G-A | EHBP1 | c.1291-20296G>A | - | IntronicSNV | - | 11/24 |
20-39878956-C-T | ZHX3 | c.-151+18674G>A | - | intron_variant | - | 2/3 |
9-107684230-T-G | ABCA1 | c.-93+5986A>C | - | intron_variant | - | 1/49 |
7-77994294-G-A | MAGI2 | c.1103+4179C>T | - | IntronicSNV | - | 7/21 |
7-77994294-G-C | MAGI2 | c.1103+4179C>G | - | IntronicSNV | - | 7/21 |
19-7224431-G-A | INSR | c.653-39783C>T | - | IntronicSNV | - | 2/21 |
2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
8-19823192-T-C | LPL | c.*371T>C | - | 3-UTRSNV | 10/10 | - |
19-33899065-G-A | PEPD | c.818+3513C>T | - | IntronicSNV | - | 11/14 |
19-8433196-C-A | ANGPTL4 | c.548-907C>A | - | IntronicSNV | - | 3/6 |
20-39672618-T-A | TOP1 | c.58+14523T>A | - | IntronicSNV | - | 2/20 |
19-8431581-G-A | ANGPTL4 | c.547+378G>A | - | IntronicSNV | - | 3/6 |
19-8431581-G-C | ANGPTL4 | c.547+378G>C | - | IntronicSNV | - | 3/6 |
3-36979042-A-G | TRANK1 | c.23+7236T>C | - | IntronicSNV | - | 1/22 |
19-49232226-G-A | RASIP1 | c.1801C>T | p.Arg601Cys | Missense | 5/12 | - |
16-72001521-G-C | PKD1L3 | c.2286+284C>G | - | IntronicSNV | - | 14/30 |
10-46013277-A-C | MARCH8 | c.102+15281T>G | - | IntronicSNV | - | 2/6 |
19-45398633-G-C | TOMM40 | c.643+1310G>C | - | IntronicSNV | - | 6/9 |
8-10683929-G-C | PINX1 | c.302-175C>G | - | IntronicSNV | - | 4/6 |
12-109950144-A-G | UBE3B | c.1956+1036A>G | - | IntronicSNV | - | 18/27 |
20-39811275-G-C | ZHX3 | c.*2556C>G | - | 3-UTRSNV | 4/4 | - |
8-10683929-G-T | PINX1 | c.302-175C>A | - | IntronicSNV | - | 4/6 |
15-58740588-C-A | LIPC | c.88+16269C>A | - | IntronicSNV | - | 1/8 |
1-109796757-G-C | CELSR2 | c.3310+746G>C | - | IntronicSNV | - | 1/33 |
15-58740588-C-T | LIPC | c.88+16269C>T | - | IntronicSNV | - | 1/8 |
3-172223982-T-C | TNFSF10 | c.*692A>G | - | 3-UTRSNV | 3/3 | - |
11-61569306-C-G | FADS1 | c.*577G>C | - | 3-UTRSNV | 12/12 | - |
7-116358044-A-T | MET | c.1201-13678A>T | - | IntronicSNV | - | 2/20 |
19-11202306-G-T | LDLR | c.67+2015G>T | - | IntronicSNV | - | 1/17 |
7-116358044-A-G | MET | c.1201-13678A>G | - | IntronicSNV | - | 2/20 |
8-116602855-T-C | TRPS1 | c.2097-3024A>G | - | IntronicSNV | - | 4/6 |
3-24293001-T-C | THRB | c.1-22551A>G | - | IntronicSNV | - | 2/9 |
1-55526428-T-G | PCSK9 | c.1682-620T>G | - | IntronicSNV | - | 10/11 |
1-55526428-T-C | PCSK9 | c.1682-620T>C | - | IntronicSNV | - | 10/11 |
7-100285974-A-C | GIGYF1 | c.1-113T>G | - | 5-UTRSNV | 1/24 | - |
1-110198727-C-G | GSTM4 | c.1-285C>G | - | 5-UTRSNV | 1/8 | - |
7-100285974-A-T | GIGYF1 | c.1-113T>A | - | 5-UTRSNV | 1/24 | - |
12-57707295-C-T | R3HDM2 | c.1-3084G>A | - | IntergenicSNV | - | 1/23 |
17-45732605-G-A | KPNB1 | c.283-1621G>A | - | IntronicSNV | - | 3/21 |
5-74655726-C-T | HMGCR | c.2458-84C>T | - | IntronicSNV | - | 18/19 |
18-47093864-C-T | LIPG | c.332C>T | p.Thr111Ile | Missense | 3/10 | - |
18-47093864-C-A | LIPG | c.332C>A | p.Thr111Lys | Missense | 3/10 | - |
2-136403749-C-A | R3HDM1 | c.1623+652C>A | - | IntronicSNV | - | 16/25 |
1-62921586-T-C | DOCK7 | c.6288-459A>G | - | IntronicSNV | - | 48/48 |
9-107662305-C-T | ABCA1 | c.66+3590G>A | - | IntronicSNV | - | 2/49 |
2-27735033-G-A | GCKR | c.1422+3915G>A | - | IntronicSNV | - | 16/18 |
9-107662305-C-G | ABCA1 | c.66+3590G>C | - | IntronicSNV | - | 2/49 |
9-107662305-C-A | ABCA1 | c.66+3590G>T | - | IntronicSNV | - | 2/49 |
17-76388202-A-G | PGS1 | c.144-355A>G | - | IntronicSNV | - | 1/9 |
2-169830155-G-A | ABCB11 | c.1434+70C>T | - | IntronicSNV | - | 13/27 |
11-117095283-C-T | PCSK7 | c.915+134G>A | - | IntronicSNV | - | 7/16 |
11-77976208-C-G | GAB2 | c.377-14762G>C | - | IntronicSNV | - | 2/9 |
1-63041800-T-C | DOCK7 | c.2112+1133A>G | - | IntronicSNV | - | 18/48 |
20-39724338-T-C | TOP1 | c.731-1522T>C | - | IntronicSNV | - | 9/20 |
7-72907459-C-T | BAZ1B | c.572-208G>A | - | IntronicSNV | - | 4/19 |
1-62953373-G-A | DOCK7 | c.5401-290C>T | - | IntronicSNV | - | 41/48 |
4-3186244-A-T | HTT | c.4866+2047A>T | - | IntronicSNV | - | 37/66 |
2-44074431-C-A | ABCG8 | c.322+981C>A | - | IntronicSNV | - | 3/12 |
19-11242307-G-C | LDLR | c.*315G>C | - | 3-UTRSNV | 18/18 | - |
5-72926514-A-G | ARHGEF28 | c.-12+4367A>G | - | intron_variant | - | 1/36 |
1-63041800-T-G | DOCK7 | c.2112+1133A>C | - | IntronicSNV | - | 18/48 |
22-38546033-T-A | PLA2G6 | c.210-4373A>T | - | IntronicSNV | - | 2/15 |
3-152171870-C-G | MBNL1 | c.962-1461C>G | - | IntronicSNV | - | 6/9 |
22-38546033-T-C | PLA2G6 | c.210-4373A>G | - | IntronicSNV | - | 2/15 |
8-19680259-G-A | INTS10 | c.523+228G>A | - | IntronicSNV | - | 5/16 |
10-46013277-A-T | MARCH8 | c.102+15281T>A | - | IntronicSNV | - | 2/6 |
19-11147615-G-A | SMARCA4 | c.4170+1807G>A | - | IntronicSNV | - | 29/34 |
3-31797201-C-T | OSBPL10 | c.538-7589G>A | - | IntronicSNV | - | 3/10 |
11-61557826-T-C | TMEM258 | c.113+139A>G | - | IntronicSNV | - | 2/3 |
4-146808682-C-T | ZNF827 | c.1267-1372G>A | - | IntronicSNV | - | 3/14 |
17-81045854-T-C | METRNL | c.556+2655T>C | - | IntronicSNV | - | 2/3 |
16-56942921-A-T | SLC12A3 | c.2952-4255A>T | - | IntronicSNV | - | 25/25 |
3-60812147-G-A | FHIT | c.-110-4442C>T | - | intron_variant | - | 3/9 |
15-38545725-A-G | SPRED1 | c.32+307A>G | - | IntronicSNV | - | 1/6 |
15-38545725-A-C | SPRED1 | c.32+307A>C | - | IntronicSNV | - | 1/6 |
1-109823962-T-C | PSRC1 | c.520-89A>G | - | IntronicSNV | - | 4/7 |
16-12222297-T-C | SNX29 | c.1467-1190T>C | - | IntronicSNV | - | 12/20 |
16-72097827-C-T | HPR | c.5+668C>T | - | IntronicSNV | - | 1/4 |
16-81534790-T-A | CMIP | c.18+5691T>A | - | IntronicSNV | - | 1/20 |
16-72097827-C-A | HPR | c.5+668C>A | - | IntronicSNV | - | 1/4 |
15-75289722-T-C | SCAMP5 | c.-49+1708T>C | - | intron_variant | - | 1/6 |
17-45425115-G-T | EFCAB13 | c.518-59G>T | - | IntronicSNV | - | 8/24 |
17-45425115-G-A | EFCAB13 | c.518-59G>A | - | IntronicSNV | - | 8/24 |
16-57009932-C-T | CETP | c.981+869C>T | - | IntronicSNV | - | 10/15 |
20-39811275-G-T | ZHX3 | c.*2556C>A | - | 3-UTRSNV | 4/4 | - |
1-230297778-A-T | GALNT2 | c.127-16186A>T | - | IntronicSNV | - | 1/15 |
19-45396219-C-T | TOMM40 | c.435+33C>T | - | IntronicSNV | - | 4/9 |
22-18389513-GG-AG | MICAL3 | c.65_66delCCinsAG | p.Ala22Glu | Missense | 1/20 | - |
11-65391317-G-A | PCNX3 | c.2512-83G>A | - | IntronicSNV | - | 12/34 |
9-107563603-T-C | ABCA1 | c.4698+732A>G | - | IntronicSNV | - | 34/49 |
20-46290250-T-C | SULF2 | c.2494+267A>G | - | IntronicSNV | - | 18/20 |
20-7961715-G-A | TMX4 | c.*1183C>T | - | 3-UTRSNV | 8/8 | - |
6-160985526-G-A | LPA | c.4632-6923C>T | - | IntronicSNV | - | 28/38 |
16-72144174-T-C | DHX38 | c.3478-681T>C | - | IntronicSNV | - | 25/26 |
6-127476516-G-A | RSPO3 | c.567G>A | p.Leu189Leu | Synonymous | 4/5 | - |
3-32533010-C-T | CMTM6 | c.315+192G>A | - | IntronicSNV | - | 2/3 |
12-121416650-A-C | HNF1A | c.79A>C | p.Ile27Leu | Missense | 1/10 | - |
4-852313-C-T | GAK | c.3283+1081G>A | - | IntronicSNV | - | 24/27 |
11-47260319-A-G | DDB2 | c.1235-32A>G | - | IntronicSNV | - | 9/9 |
2-44074431-C-T | ABCG8 | c.322+981C>T | - | IntronicSNV | - | 3/12 |
16-72108093-G-A | HPR | c.92-90G>A | - | IntronicSNV | - | 2/4 |
4-88052219-T-C | AFF1 | c.2944-16T>C | - | IntronicSNV | - | 15/19 |
12-125264293-G-C | SCARB1 | c.*1-1161C>G | - | intron_variant | - | 12/12 |
8-19802711-T-C | LPL | c.89-2980T>C | - | IntronicSNV | - | 1/9 |
6-116337503-G-A | FRK | c.345-12342C>T | - | IntronicSNV | - | 1/7 |
7-87076587-C-T | ABCB4 | c.834-66G>A | - | IntronicSNV | - | 8/27 |
12-125264293-G-A | SCARB1 | c.*1-1161C>T | - | intron_variant | - | 12/12 |
12-125345643-G-A | SCARB1 | c.126+2498C>T | - | IntronicSNV | - | 1/12 |
7-72913168-G-C | BAZ1B | c.370-140C>G | - | IntronicSNV | - | 3/19 |
22-37462936-A-G | TMPRSS6 | c.2207T>C | p.Val736Ala | Missense | 17/18 | - |
3-50129399-C-T | RBM5 | c.18-77C>T | - | IntronicSNV | - | 2/24 |
2-211540489-C-A | CPS1 | c.4217C>A | p.Ala1406Asp | Missense | 37/39 | - |
15-100646979-C-A | ADAMTS17 | c.2016+2215G>T | - | IntronicSNV | - | 14/21 |
3-52532118-A-T | STAB1 | c.78+2611A>T | - | IntronicSNV | - | 1/68 |
22-26718894-A-G | SEZ6L | c.2015+9026A>G | - | IntronicSNV | - | 9/16 |
11-78099014-T-G | GAB2 | c.75+29678A>C | - | IntronicSNV | - | 1/9 |
16-57006829-T-A | CETP | c.751-414T>A | - | IntronicSNV | - | 8/15 |
9-136132875-T-C | ABO | c.294A>G | p.Ala98Ala | Synonymous | 7/8 | - |
9-136132875-T-G | ABO | c.294A>C | p.Ala98Ala | Synonymous | 7/8 | - |
2-165539661-T-C | COBLL1 | c.*2795A>G | - | 3-UTRSNV | 14/14 | - |
2-27999967-G-A | MRPL33 | c.149-2333G>A | - | IntronicSNV | - | 3/3 |
3-47061183-G-A | SETD2 | c.7431+67C>T | - | IntronicSNV | - | 19/20 |
2-165539661-T-A | COBLL1 | c.*2795A>T | - | 3-UTRSNV | 14/14 | - |
2-21263900-G-A | APOB | c.293C>T | p.Thr98Ile | Missense | 4/29 | - |
3-155547274-C-T | SLC33A1 | c.1482+203G>A | - | IntronicSNV | - | 5/5 |
3-47061183-G-C | SETD2 | c.7431+67C>G | - | IntronicSNV | - | 19/20 |
17-45732605-G-C | KPNB1 | c.283-1621G>C | - | IntronicSNV | - | 3/21 |
6-160578860-T-C | SLC22A1 | c.1599-688T>C | - | IntronicSNV | - | 10/10 |
9-136132875-T-A | ABO | c.294A>T | p.Ala98Ala | Synonymous | 7/8 | - |
8-19824492-T-C | LPL | c.*1671T>C | - | 3-UTRSNV | 10/10 | - |
4-858332-C-T | GAK | c.3166+578G>A | - | IntronicSNV | - | 23/27 |
8-19824492-T-A | LPL | c.*1671T>A | - | 3-UTRSNV | 10/10 | - |
1-220973563-C-T | MARC1 | c.753+2207C>T | - | IntronicSNV | - | 4/6 |
8-59338856-G-C | UBXN2B | c.189-4222G>C | - | IntronicSNV | - | 2/7 |
12-125265689-C-T | SCARB1 | c.*1540G>A | - | IntronicSNV | 13/13 | - |
1-110032431-T-G | ATXN7L2 | c.1038-121T>G | - | IntronicSNV | - | 7/10 |
21-40574305-A-G | BRWD1 | c.4531T>C | p.Ser1511Pro | Missense | 38/41 | - |
1-55569440-G-A | USP24 | c.5025+109C>T | - | IntronicSNV | - | 42/67 |
3-170727218-G-A | SLC2A2 | c.496+529C>T | - | IntronicSNV | - | 4/10 |
2-44092066-C-T | ABCG8 | c.965-7049C>T | - | IntronicSNV | - | 6/12 |
15-101905533-T-C | PCSK6 | c.1855+868A>G | - | intron_variant | - | 14/22 |
19-2814181-C-T | THOP1 | c.*907C>T | - | IntergenicSNV | 13/13 | - |
5-118729286-C-T | TNFAIP8 | c.*210C>T | - | 3-UTRSNV | 2/2 | - |
19-45302951-A-G | CBLC | c.1363-687A>G | - | IntronicSNV | - | 9/10 |
5-170459675-G-A | RANBP17 | c.1710+64294G>A | - | IntronicSNV | - | 14/27 |
15-44211273-T-C | FRMD5 | c.329+384A>G | - | IntronicSNV | - | 4/13 |
2-165551201-T-C | COBLL1 | c.2815A>G | p.Asn939Asp | Missense | 12/14 | - |
12-112310580-G-A | MAPKAPK5 | c.579+1596G>A | - | IntronicSNV | - | 7/13 |
19-10813364-T-A | QTRT1 | c.451+434T>A | - | IntronicSNV | - | 3/9 |
19-11277232-G-A | KANK2 | c.*2C>T | - | 3-UTRSNV | 11/11 | - |
19-11277232-G-T | KANK2 | c.*2C>A | - | 3-UTRSNV | 11/11 | - |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
16-15501099-T-C | MPV17L | c.311-582T>C | - | IntronicSNV | - | 1/2 |
1-109818306-G-T | CELSR2 | c.*1635G>T | - | 3-UTRSNV | 34/34 | - |
9-107662304-G-T | ABCA1 | c.66+3591C>A | - | IntronicSNV | - | 2/49 |
17-76403984-G-A | PGS1 | c.1402+3814G>A | - | IntronicSNV | - | 7/9 |
7-17919258-G-T | SNX13 | c.441-3845C>A | - | IntronicSNV | - | 5/25 |
7-17919258-G-A | SNX13 | c.441-3845C>T | - | IntronicSNV | - | 5/25 |
2-109232388-A-C | LIMS1 | c.-5+27507A>C | - | intron_variant | - | 1/9 |
7-12269417-C-G | TMEM106B | c.554C>G | p.Thr185Ser | Missense | 6/9 | - |
9-107662304-G-C | ABCA1 | c.66+3591C>G | - | IntronicSNV | - | 2/49 |
1-230293530-C-T | GALNT2 | c.127-20434C>T | - | IntronicSNV | - | 1/15 |
4-154224048-A-G | TRIM2 | c.1429+6860A>G | - | IntronicSNV | - | 6/11 |
7-6449272-A-G | DAGLB | c.*196T>C | - | 3-UTRSNV | 15/15 | - |
16-67680956-T-A | CARMIL2 | c.612-63T>A | - | IntronicSNV | - | 8/37 |
1-230293530-C-A | GALNT2 | c.127-20434C>A | - | IntronicSNV | - | 1/15 |
1-230293530-C-G | GALNT2 | c.127-20434C>G | - | IntronicSNV | - | 1/15 |
2-27731212-T-C | GCKR | c.1422+94T>C | - | IntronicSNV | - | 16/18 |
12-124460167-G-T | ZNF664 | c.-757+1600G>T | - | intron_variant | - | 2/4 |
3-52532118-A-G | STAB1 | c.78+2611A>G | - | IntronicSNV | - | 1/68 |
19-45574113-T-A | CLASRP | c.*10T>A | - | 3-UTRSNV | 21/21 | - |
19-3414088-G-A | NFIC | c.563-11016G>A | - | IntronicSNV | - | 2/8 |
6-160564476-C-G | SLC22A1 | c.1277-97C>G | - | IntronicSNV | - | 7/10 |
19-11347657-C-T | DOCK6 | c.2074-102G>A | - | IntronicSNV | - | 18/47 |
8-22457804-C-T | C8orf58 | c.40+531C>T | - | IntronicSNV | - | 1/6 |
11-116647607-C-T | ZPR1 | c.*2034G>A | - | IntergenicSNV | 14/14 | - |
16-57009941-T-C | CETP | c.981+878T>C | - | IntronicSNV | - | 10/15 |
1-109796757-G-A | CELSR2 | c.3310+746G>A | - | IntronicSNV | - | 1/33 |
8-118184783-C-T | SLC30A8 | c.973C>T | p.Arg325Trp | Missense | 8/8 | - |
8-118184783-C-A | SLC30A8 | c.973C>A | p.Arg325Arg | Synonymous | 8/8 | - |
1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
4-103188709-C-A | SLC39A8 | c.1171G>T | p.Ala391Ser | Missense | 7/8 | - |
19-45410002-G-A | APOE | c.43+78G>A | - | IntronicSNV | - | 2/3 |
4-103188709-C-T | SLC39A8 | c.1171G>A | p.Ala391Thr | Missense | 7/8 | - |
5-53298025-G-A | ARL15 | c.462+111007C>T | - | IntronicSNV | - | 4/4 |
9-15305378-G-C | TTC39B | c.240+1704C>G | - | IntronicSNV | - | 1/19 |
1-93816400-A-G | DR1 | c.221-3065A>G | - | IntronicSNV | - | 1/2 |
15-44266730-G-A | FRMD5 | c.103-50223C>T | - | IntronicSNV | - | 1/13 |
3-136103267-C-T | STAG1 | c.2278-6673G>A | - | IntronicSNV | - | 22/33 |
3-136103267-C-G | STAG1 | c.2278-6673G>C | - | IntronicSNV | - | 22/33 |
2-66665146-T-C | MEIS1 | c.239+51T>C | - | IntronicSNV | - | 2/12 |
2-44072576-G-C | ABCG8 | c.166-718G>C | - | IntronicSNV | - | 2/12 |
1-40028180-A-C | PABPC4 | c.1669-92T>G | - | IntronicSNV | - | 12/15 |
1-40028180-A-G | PABPC4 | c.1669-92T>C | - | IntronicSNV | - | 12/15 |
11-77976208-C-T | GAB2 | c.377-14762G>A | - | IntronicSNV | - | 2/9 |
17-76401318-C-T | PGS1 | c.1402+1148C>T | - | IntronicSNV | - | 7/9 |
19-11085543-T-C | SMARCA4 | c.1-9285T>C | - | IntronicSNV | - | 1/34 |
16-81534790-T-C | CMIP | c.18+5691T>C | - | IntronicSNV | - | 1/20 |
12-110000193-C-G | MMAB | c.349-536G>C | - | IntronicSNV | - | 4/8 |
15-80705827-A-G | ARNT2 | c.31+8939A>G | - | IntronicSNV | - | 1/18 |
19-48376941-C-G | SULT2A1 | c.745+973G>C | - | IntronicSNV | - | 5/5 |
11-46743247-T-C | F2 | c.316+857T>C | - | IntronicSNV | - | 4/13 |
1-109813510-A-T | CELSR2 | c.7484-39A>T | - | IntronicSNV | - | 24/33 |
9-107665739-G-A | ABCA1 | c.66+156C>T | - | IntronicSNV | - | 2/49 |
16-20549777-G-A | ACSM2B | c.1630-1093C>T | - | IntronicSNV | - | 14/14 |
2-27574426-G-C | GTF3C2 | c.-25+5180C>G | - | intron_variant | - | 1/18 |
2-27574426-G-A | GTF3C2 | c.-25+5180C>T | - | intron_variant | - | 1/18 |
1-109813510-A-C | CELSR2 | c.7484-39A>C | - | IntronicSNV | - | 24/33 |
15-42683787-G-A | CAPN3 | c.946-1050G>A | - | IntronicSNV | - | 6/23 |
12-125284748-A-G | SCARB1 | c.1050T>C | p.Ala350Ala | Synonymous | 8/13 | - |
17-8161149-C-T | PFAS | c.1100C>T | p.Pro367Leu | Missense | 10/28 | - |
19-54783375-T-G | LILRB2 | c.483A>C | p.Glu161Asp | Missense | 5/14 | - |
10-70346740-T-C | TET1 | c.1914+12731T>C | - | IntronicSNV | - | 2/11 |
12-125284748-A-T | SCARB1 | c.1050T>A | p.Ala350Ala | Synonymous | 8/13 | - |
16-53799977-T-G | FTO | c.46-44075T>G | - | IntronicSNV | - | 1/8 |
4-88030261-G-T | AFF1 | c.1512+794G>T | - | IntronicSNV | - | 10/19 |
16-57015091-G-C | CETP | c.1168G>C | p.Ala390Pro | Missense | 12/16 | - |
16-53799977-T-C | FTO | c.46-44075T>C | - | IntronicSNV | - | 1/8 |
2-66680892-G-A | MEIS1 | c.631-10349G>A | - | IntronicSNV | - | 6/12 |
6-160400147-A-G | IGF2R | c.149+9720A>G | - | IntronicSNV | - | 1/47 |
19-45373565-G-A | NECTIN2 | c.479-1545G>A | - | IntronicSNV | - | 2/5 |
8-19824667-C-T | LPL | c.*1846C>T | - | 3-UTRSNV | 10/10 | - |
11-116655600-G-A | ZPR1 | c.791C>T | p.Ala264Val | Missense | 8/14 | - |
11-116655600-G-C | ZPR1 | c.791C>G | p.Ala264Gly | Missense | 8/14 | - |
16-67928042-G-A | PSKH1 | c.-71+768G>A | - | intron_variant | - | 1/2 |
3-50113034-A-G | RBM6 | c.3246+271A>G | - | IntronicSNV | - | 20/20 |
19-45487178-C-T | CLPTM1 | c.587-1298C>T | - | IntronicSNV | - | 5/13 |
8-145022657-G-T | PLEC | c.194-9797C>A | - | IntronicSNV | - | 2/32 |
16-57000885-G-A | CETP | c.234-2413G>A | - | IntronicSNV | - | 2/15 |
3-160086055-G-T | IFT80 | c.440-2115C>A | - | IntronicSNV | - | 5/19 |
1-55520408-G-A | PCSK9 | c.800-1258G>A | - | IntronicSNV | - | 5/11 |
9-107664301-C-T | ABCA1 | c.66+1594G>A | - | IntronicSNV | - | 2/49 |
4-858332-C-G | GAK | c.3166+578G>C | - | IntronicSNV | - | 23/27 |
8-145022657-G-A | PLEC | c.194-9797C>T | - | IntronicSNV | - | 2/32 |
2-27730940-T-C | GCKR | c.1337T>C | p.Leu446Pro | Missense | 15/19 | - |
12-107174646-A-C | RIC8B | c.85-3129A>C | - | IntronicSNV | - | 1/8 |
1-63124465-T-G | DOCK7 | c.144+4231A>C | - | IntronicSNV | - | 2/48 |
11-61569830-C-T | FADS1 | c.*53G>A | - | 3-UTRSNV | 12/12 | - |
8-116599199-T-C | TRPS1 | c.2700+29A>G | - | IntronicSNV | - | 5/6 |
2-21225281-C-T | APOB | c.13013G>A | p.Ser4338Asn | Missense | 29/29 | - |
2-46166321-A-G | PRKCE | c.413-37247A>G | - | IntronicSNV | - | 2/14 |
8-116599199-T-G | TRPS1 | c.2700+29A>C | - | IntronicSNV | - | 5/6 |
3-119560606-T-A | GSK3B | c.1195+1496A>T | - | IntronicSNV | - | 10/10 |
3-119560606-T-C | GSK3B | c.1195+1496A>G | - | IntronicSNV | - | 10/10 |
13-95284980-C-A | GPR180 | c.*5555C>A | - | 3-UTRSNV | 9/9 | - |
19-48376941-C-T | SULT2A1 | c.745+973G>A | - | IntronicSNV | - | 5/5 |
16-67954398-G-C | PSKH1 | c.958-6830G>C | - | IntronicSNV | - | 2/2 |
2-234679384-C-T | UGT1A1 | c.1305-1524C>T | - | IntronicSNV | - | 4/4 |
11-28279095-A-G | METTL15 | c.408-32658A>G | - | IntronicSNV | - | 4/7 |
16-57075781-C-T | NLRC5 | c.3030-113C>T | - | IntronicSNV | - | 17/47 |
11-28279095-A-T | METTL15 | c.408-32658A>T | - | IntronicSNV | - | 4/7 |
12-57844049-C-T | INHBC | c.*244C>T | - | 3-UTRSNV | 2/2 | - |
9-107589744-C-T | ABCA1 | c.2116-294G>A | - | IntronicSNV | - | 15/49 |
7-73016862-T-C | MLXIPL | c.902-2837A>G | - | IntronicSNV | - | 7/16 |
14-24883887-G-A | NYNRIN | c.2932G>A | p.Ala978Thr | Missense | 9/9 | - |
7-17837859-C-T | SNX13 | c.2513+454G>A | - | IntronicSNV | - | 24/25 |
7-44579180-G-C | NPC1L1 | c.816C>G | p.Leu272Leu | Synonymous | 2/20 | - |
7-44579180-G-A | NPC1L1 | c.816C>T | p.Leu272Leu | Synonymous | 2/20 | - |
2-165619163-T-C | COBLL1 | c.42-18778A>G | - | IntronicSNV | - | 1/13 |
2-165619163-T-G | COBLL1 | c.42-18778A>C | - | IntronicSNV | - | 1/13 |
17-81045854-T-A | METRNL | c.556+2655T>A | - | IntronicSNV | - | 2/3 |
1-18808292-C-A | KLHDC7A | c.817C>A | p.His273Asn | Missense | 1/1 | - |
16-57006829-T-G | CETP | c.751-414T>G | - | IntronicSNV | - | 8/15 |
17-66875294-C-G | ABCA8 | c.3919-1474G>C | - | IntronicSNV | - | 30/37 |
19-11347493-T-C | DOCK6 | c.2136A>G | p.Thr712Thr | Synonymous | 19/48 | - |
8-18255410-A-G | NAT2 | c.1-2104A>G | - | IntronicSNV | - | 1/1 |
19-2814181-C-G | THOP1 | c.*907C>G | - | IntergenicSNV | 13/13 | - |
16-57010232-C-T | CETP | c.981+1169C>T | - | IntronicSNV | - | 10/15 |
13-111025118-A-G | COL4A2 | c.180+15219A>G | - | IntronicSNV | - | 4/47 |
12-125324798-C-A | SCARB1 | c.127-22545G>T | - | IntronicSNV | - | 1/12 |
12-110000193-C-T | MMAB | c.349-536G>A | - | IntronicSNV | - | 4/8 |
19-11336444-C-T | DOCK6 | c.2955+1569G>A | - | IntronicSNV | - | 24/47 |
1-92993807-C-T | EVI5 | c.2119-14280G>A | - | IntronicSNV | - | 17/17 |
16-15129940-C-T | PDXDC1 | c.2175C>T | p.His725His | Synonymous | 23/23 | - |
16-15129940-C-A | PDXDC1 | c.2175C>A | p.His725Gln | Missense | 23/23 | - |
11-61569306-C-A | FADS1 | c.*577G>T | - | 3-UTRSNV | 12/12 | - |
11-116718802-T-G | SIK3 | c.3676-478A>C | - | intron_variant | - | 21/23 |
11-116718802-T-A | SIK3 | c.3676-478A>T | - | intron_variant | - | 21/23 |
11-61548874-G-A | MYRF | c.2659+73G>A | - | IntronicSNV | - | 20/25 |
19-11206575-G-A | LDLR | c.68-4324G>A | - | IntronicSNV | - | 1/17 |
2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
15-44245931-A-T | FRMD5 | c.103-29424T>A | - | IntronicSNV | - | 1/13 |
9-107571208-G-A | ABCA1 | c.4274+539C>T | - | IntronicSNV | - | 30/49 |
18-9522606-G-A | RALBP1 | c.1053+99G>A | - | IntronicSNV | - | 4/9 |
1-230295691-G-A | GALNT2 | c.127-18273G>A | - | IntronicSNV | - | 1/15 |
1-205130413-A-G | DSTYK | c.1921T>C | p.Cys641Arg | Missense | 7/13 | - |
2-44092066-C-G | ABCG8 | c.965-7049C>G | - | IntronicSNV | - | 6/12 |
1-205130413-A-T | DSTYK | c.1921T>A | p.Cys641Ser | Missense | 7/13 | - |
19-19717056-A-G | PBX4 | c.120-6882T>C | - | IntronicSNV | - | 1/7 |
16-72052348-A-G | DHODH | c.517+1343A>G | - | IntronicSNV | - | 4/8 |
2-165540800-T-C | COBLL1 | c.*1656A>G | - | 3-UTRSNV | 14/14 | - |
6-160575985-C-T | SLC22A1 | c.1498+43C>T | - | IntronicSNV | - | 9/10 |
8-19815098-C-T | LPL | c.1018+1504C>T | - | IntronicSNV | - | 6/9 |
2-118576719-T-C | DDX18 | c.371-506T>C | - | IntronicSNV | - | 2/13 |
8-19812252-G-C | LPL | c.775+388G>C | - | IntronicSNV | - | 5/9 |
5-74656539-T-C | HMGCR | c.*372T>C | - | 3-UTRSNV | 20/20 | - |
8-19812252-G-T | LPL | c.775+388G>T | - | IntronicSNV | - | 5/9 |
8-19812252-G-A | LPL | c.775+388G>A | - | IntronicSNV | - | 5/9 |
1-150958836-A-G | ANXA9 | c.497A>G | p.Asp166Gly | Missense | 8/14 | - |
8-116602855-T-A | TRPS1 | c.2097-3024A>T | - | IntronicSNV | - | 4/6 |
16-78007470-A-G | VAT1L | c.1161+1640A>G | - | IntronicSNV | - | 8/8 |
1-220970028-A-G | MARC1 | c.493A>G | p.Thr165Ala | Missense | 3/7 | - |
1-230294715-C-A | GALNT2 | c.127-19249C>A | - | IntronicSNV | - | 1/15 |
1-63025942-G-T | DOCK7 | c.2200-1051C>A | - | IntronicSNV | - | 19/48 |
9-15304782-C-A | TTC39B | c.240+2300G>T | - | IntronicSNV | - | 1/19 |
12-125287648-A-G | SCARB1 | c.1010-2860T>C | - | IntronicSNV | - | 7/12 |
10-65301725-T-C | REEP3 | c.32+20388T>C | - | IntronicSNV | - | 1/7 |
12-121423285-T-A | HNF1A | c.327-3351T>A | - | IntronicSNV | - | 1/9 |
12-121423285-T-C | HNF1A | c.327-3351T>C | - | IntronicSNV | - | 1/9 |