Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
4-95533967-T-C | PDLIM5 | c.594-5188T>C | - | IntronicSNV | - | 7/12 |
16-68818903-T-C | CDH1 | c.164-16670T>C | - | IntronicSNV | - | 2/15 |
7-97793209-G-T | LMTK2 | c.657+4472G>T | - | IntronicSNV | - | 6/13 |
6-160782662-A-G | SLC22A3 | c.429+12782A>G | - | IntronicSNV | - | 1/10 |
6-160782662-A-T | SLC22A3 | c.429+12782A>T | - | IntronicSNV | - | 1/10 |
6-127595786-C-A | RNF146 | c.-348-5590C>A | - | intron_variant | - | 1/4 |
15-48739274-A-G | FBN1 | c.5672-255T>C | - | IntronicSNV | - | 46/65 |
15-48799348-T-G | FBN1 | c.1837+1431A>C | - | IntronicSNV | - | 15/65 |
15-48799348-T-C | FBN1 | c.1837+1431A>G | - | IntronicSNV | - | 15/65 |
7-98010811-G-A | BAIAP2L1 | c.52-19067C>T | - | IntronicSNV | - | 1/13 |
3-128110770-G-A | EEFSEC | c.1601-16142G>A | - | IntronicSNV | - | 6/6 |
16-68725783-G-A | CDH3 | c.1956G>A | p.Lys652Lys | Synonymous | 13/16 | - |
15-48836119-T-C | FBN1 | c.539-6114A>G | - | IntronicSNV | - | 6/65 |
16-52558673-T-G | TOX3 | c.87+21876A>C | - | IntronicSNV | - | 1/6 |
7-97763497-C-T | LMTK2 | c.104-3130C>T | - | IntronicSNV | - | 1/13 |
15-48770580-A-G | FBN1 | c.3964+3272T>C | - | IntronicSNV | - | 32/65 |
15-48887603-T-C | FBN1 | c.538+877A>G | - | IntronicSNV | - | 6/65 |
4-95496882-C-T | PDLIM5 | c.292-212C>T | - | IntronicSNV | - | 4/12 |
12-50939807-A-G | DIP2B | c.100+40784A>G | - | IntronicSNV | - | 1/37 |
15-48821824-T-C | FBN1 | c.863-3372A>G | - | IntronicSNV | - | 8/65 |
10-123661663-C-G | ATE1 | c.813+243G>C | - | IntronicSNV | - | 6/11 |
7-97993506-C-T | BAIAP2L1 | c.52-1762G>A | - | IntronicSNV | - | 1/13 |
12-50647224-C-T | LIMA1 | c.1-4690G>A | - | IntronicSNV | - | 1/10 |
16-68819007-C-T | CDH1 | c.164-16566C>T | - | IntronicSNV | - | 2/15 |
15-48720526-G-A | FBN1 | c.6997+17C>T | - | IntronicSNV | - | 57/65 |
15-48720526-G-C | FBN1 | c.6997+17C>G | - | IntronicSNV | - | 57/65 |
6-127650299-T-C | ECHDC1 | c.220+1655A>G | - | IntronicSNV | - | 2/5 |
15-48754122-G-T | FBN1 | c.5224+1157C>A | - | IntronicSNV | - | 42/65 |
7-97969140-C-T | BAIAP2L1 | c.214+15214G>A | - | IntronicSNV | - | 3/13 |
6-41519654-A-G | FOXP4 | c.-17+5049A>G | - | intron_variant | - | 1/16 |
7-27983781-C-T | JAZF1 | c.188+47747G>A | - | IntronicSNV | - | 2/4 |
3-128015236-C-T | EEFSEC | c.786+31612C>T | - | IntronicSNV | - | 4/6 |
3-37960151-A-G | CTDSPL | c.80-28397A>G | - | IntronicSNV | - | 1/6 |
17-36098987-G-A | HNF1B | c.544+444C>T | - | IntronicSNV | - | 2/8 |
10-123624175-T-A | ATE1 | c.975+5346A>T | - | IntronicSNV | - | 8/11 |
15-48810499-G-T | FBN1 | c.1148-1940C>A | - | IntronicSNV | - | 10/65 |
14-54417522-A-G | BMP4 | c.455T>C | p.Val152Ala | Missense | 4/4 | - |
15-48861517-A-C | FBN1 | c.538+26963T>G | - | IntronicSNV | - | 6/65 |
15-48859253-A-G | FBN1 | c.538+29227T>C | - | IntronicSNV | - | 6/65 |
5-10464049-C-T | ROPN1L | c.594-911C>T | - | IntronicSNV | - | 4/4 |
16-68731365-T-G | CDH3 | c.2281-729T>G | - | IntronicSNV | - | 15/15 |
16-68731365-T-C | CDH3 | c.2281-729T>C | - | IntronicSNV | - | 15/15 |
6-151930249-G-A | CCDC170 | c.1711-6329G>A | - | IntronicSNV | - | 9/10 |
6-41548540-C-T | FOXP4 | c.300+2721C>T | - | IntronicSNV | - | 3/16 |
6-41548540-C-G | FOXP4 | c.300+2721C>G | - | IntronicSNV | - | 3/16 |
7-28016334-T-A | JAZF1 | c.188+15194A>T | - | IntronicSNV | - | 2/4 |
7-28016334-T-C | JAZF1 | c.188+15194A>G | - | IntronicSNV | - | 2/4 |
16-68790502-C-T | CDH1 | c.163+18188C>T | - | IntronicSNV | - | 2/15 |
15-48768673-A-G | FBN1 | c.3965-1826T>C | - | IntronicSNV | - | 32/65 |
16-68809599-G-A | CDH1 | c.164-25974G>A | - | IntronicSNV | - | 2/15 |
15-33010736-G-A | GREM1 | c.-2+374G>A | - | intron_variant | - | 1/1 |
16-52558907-C-A | TOX3 | c.87+21642G>T | - | IntronicSNV | - | 1/6 |
6-160774441-G-T | SLC22A3 | c.429+4561G>T | - | IntronicSNV | - | 1/10 |
4-95500223-C-T | PDLIM5 | c.383+3038C>T | - | IntronicSNV | - | 5/12 |
3-37974341-G-C | CTDSPL | c.80-14207G>C | - | IntronicSNV | - | 1/6 |
11-1906174-G-A | LSP1 | c.717+363G>A | - | IntronicSNV | - | 7/10 |
2-43541598-C-T | THADA | c.4438+5987G>A | - | IntronicSNV | - | 31/37 |
2-43541598-C-G | THADA | c.4438+5987G>C | - | IntronicSNV | - | 31/37 |
22-40466872-A-G | TNRC6B | c.-121+25870A>G | - | intron_variant | - | 1/23 |
7-98005332-A-G | BAIAP2L1 | c.52-13588T>C | - | IntronicSNV | - | 1/13 |
6-41525739-A-G | FOXP4 | c.1-7760A>G | - | IntronicSNV | - | 1/16 |
16-68784587-G-T | CDH1 | c.163+12273G>T | - | IntronicSNV | - | 2/15 |
16-68784587-G-A | CDH1 | c.163+12273G>A | - | IntronicSNV | - | 2/15 |
6-160774441-G-C | SLC22A3 | c.429+4561G>C | - | IntronicSNV | - | 1/10 |
3-128083332-A-G | EEFSEC | c.1600+6116A>G | - | IntronicSNV | - | 6/6 |
15-48897416-G-A | FBN1 | c.347-4985C>T | - | IntronicSNV | - | 4/65 |
5-10456693-G-A | ROPN1L | c.418-4603G>A | - | IntronicSNV | - | 3/4 |
7-27987582-T-C | JAZF1 | c.188+43946A>G | - | IntronicSNV | - | 2/4 |
3-169568492-A-G | LRRC31 | c.1159+915T>C | - | IntronicSNV | - | 7/8 |
4-95470815-G-A | PDLIM5 | c.249-23687G>A | - | IntronicSNV | - | 3/12 |
15-48816812-A-C | FBN1 | c.988+1515T>G | - | IntronicSNV | - | 9/65 |
4-95452900-G-T | PDLIM5 | c.248+7874G>T | - | IntronicSNV | - | 3/12 |
10-126683766-G-A | CTBP2 | c.566-514C>T | - | IntronicSNV | - | 6/10 |
22-40479811-G-A | TNRC6B | c.-120-33248G>A | - | intron_variant | - | 1/23 |
7-97937258-T-C | BAIAP2L1 | c.956-50A>G | - | IntronicSNV | - | 9/13 |
10-123652873-G-A | ATE1 | c.942+6508C>T | - | IntronicSNV | - | 7/11 |
15-48888988-A-T | FBN1 | c.443-413T>A | - | IntronicSNV | - | 5/65 |
10-123651061-T-G | ATE1 | c.942+8320A>C | - | IntronicSNV | - | 7/11 |
3-27433397-A-G | SLC4A7 | c.3091-98T>C | - | IntronicSNV | - | 20/24 |
5-56113850-G-T | MAP3K1 | c.482+1968G>T | - | IntronicSNV | - | 1/19 |
22-40514647-T-C | TNRC6B | c.1-7175T>C | - | IntronicSNV | - | 1/23 |
10-123641251-G-A | ATE1 | c.943-11698C>T | - | IntronicSNV | - | 7/11 |
3-169497585-A-G | MYNN | c.1060+236A>G | - | IntronicSNV | - | 3/7 |
15-48882966-A-C | FBN1 | c.538+5514T>G | - | IntronicSNV | - | 6/65 |
10-123724632-C-G | NSMCE4A | c.753+169G>C | - | IntronicSNV | - | 5/10 |
3-37996268-G-A | CTDSPL | c.234+7566G>A | - | IntronicSNV | - | 2/6 |
7-27936709-T-C | JAZF1 | c.189-1674A>G | - | IntronicSNV | - | 2/4 |
3-127933822-T-G | EEFSEC | c.317-31857T>G | - | IntronicSNV | - | 1/6 |
22-40475326-A-G | TNRC6B | c.-121+34324A>G | - | intron_variant | - | 1/23 |
16-68698886-C-T | CDH3 | c.161-11402C>T | - | IntronicSNV | - | 2/15 |
3-169545652-G-T | LRRIQ4 | c.1021-895G>T | - | IntronicSNV | - | 1/4 |
5-10450427-T-C | ROPN1L | c.417+202T>C | - | IntronicSNV | - | 3/4 |
6-127606160-G-A | RNF146 | c.-129-1035G>A | - | intron_variant | - | 3/4 |
7-98005778-A-G | BAIAP2L1 | c.52-14034T>C | - | IntronicSNV | - | 1/13 |
13-95879410-G-A | ABCC4 | c.531+7454C>T | - | IntronicSNV | - | 4/30 |
20-60938648-C-T | LAMA5 | c.298-1040G>A | - | IntronicSNV | - | 1/79 |
16-74489732-T-A | GLG1 | c.3372+815A>T | - | IntronicSNV | - | 25/26 |
10-80834562-A-G | ZMIZ1 | c.-337+5535A>G | - | intron_variant | - | 1/24 |
5-10450427-T-A | ROPN1L | c.417+202T>A | - | IntronicSNV | - | 3/4 |
15-48861287-A-G | FBN1 | c.538+27193T>C | - | IntronicSNV | - | 6/65 |
15-48861287-A-C | FBN1 | c.538+27193T>G | - | IntronicSNV | - | 6/65 |
12-50744119-G-A | FAM186A | c.6496C>T | p.His2166Tyr | Missense | 4/8 | - |
10-123661672-G-A | ATE1 | c.813+234C>T | - | IntronicSNV | - | 6/11 |
6-151918856-T-G | CCDC170 | c.1710+1144T>G | - | IntronicSNV | - | 9/10 |
6-151918856-T-C | CCDC170 | c.1710+1144T>C | - | IntronicSNV | - | 9/10 |
12-50671370-T-C | LIMA1 | c.-24+5833A>G | - | intron_variant | - | 1/10 |
5-10460216-C-T | ROPN1L | c.418-1080C>T | - | IntronicSNV | - | 3/4 |
5-10460216-C-A | ROPN1L | c.418-1080C>A | - | IntronicSNV | - | 3/4 |
2-20979753-G-A | LDAH | c.299-5014C>T | - | IntronicSNV | - | 3/6 |
12-50668538-C-T | LIMA1 | c.-24+8665G>A | - | intron_variant | - | 1/10 |
3-127913263-A-G | EEFSEC | c.316+40597A>G | - | IntronicSNV | - | 1/6 |
15-48780089-A-C | FBN1 | c.3337+221T>G | - | IntronicSNV | - | 27/65 |
3-37962690-G-A | CTDSPL | c.80-25858G>A | - | IntronicSNV | - | 1/6 |
6-160839350-C-A | SLC22A3 | c.975+7472C>A | - | IntronicSNV | - | 5/10 |
6-160839350-C-T | SLC22A3 | c.975+7472C>T | - | IntronicSNV | - | 5/10 |
5-45266589-A-G | HCN1 | c.1783+602T>C | - | IntronicSNV | - | 7/7 |
15-48783058-A-G | FBN1 | c.2855-783T>C | - | IntronicSNV | - | 24/65 |
15-48751329-C-G | FBN1 | c.5296+1114G>C | - | IntronicSNV | - | 43/65 |
6-151939181-G-A | CCDC170 | c.2047G>A | p.Val683Ile | Missense | 11/11 | - |
21-31185447-G-C | GRIK1 | c.119-119065C>G | - | IntronicSNV | - | 1/16 |
15-48849728-C-T | FBN1 | c.539-19723G>A | - | IntronicSNV | - | 6/65 |
7-27958773-T-C | JAZF1 | c.189-23738A>G | - | IntronicSNV | - | 2/4 |
21-31185447-G-A | GRIK1 | c.119-119065C>T | - | IntronicSNV | - | 1/16 |
7-97925240-T-C | BAIAP2L1 | c.1423-1817A>G | - | IntronicSNV | - | 12/13 |
15-48897323-C-A | FBN1 | c.347-4892G>T | - | IntronicSNV | - | 4/65 |
15-48897323-C-G | FBN1 | c.347-4892G>C | - | IntronicSNV | - | 4/65 |
4-95558854-T-C | PDLIM5 | c.782-2573T>C | - | IntronicSNV | - | 8/12 |
11-1941946-T-C | TNNT3 | c.-19+954T>C | - | intron_variant | - | 1/15 |
15-33010736-G-C | GREM1 | c.-2+374G>C | - | intron_variant | - | 1/1 |
16-68832943-C-T | CDH1 | c.164-2630C>T | - | IntronicSNV | - | 2/15 |
16-68809207-C-T | CDH1 | c.164-26366C>T | - | IntronicSNV | - | 2/15 |
16-68727069-C-G | CDH3 | c.2002+1240C>G | - | IntronicSNV | - | 13/15 |
16-68727069-C-T | CDH3 | c.2002+1240C>T | - | IntronicSNV | - | 13/15 |
15-48821048-G-A | FBN1 | c.863-2596C>T | - | IntronicSNV | - | 8/65 |
6-117252091-T-C | RFX6 | c.2612-403T>C | - | IntronicSNV | - | 18/18 |
3-169486271-C-A | ACTRT3 | c.201-133G>T | - | IntronicSNV | - | 1/1 |
6-160872786-C-G | SLC22A3 | c.*698C>G | - | 3-UTRSNV | 11/11 | - |
6-160865645-G-C | SLC22A3 | c.1510+871G>C | - | IntronicSNV | - | 9/10 |
6-127638348-A-T | ECHDC1 | c.364-701T>A | - | IntronicSNV | - | 3/5 |
20-60913495-T-G | LAMA5 | c.1618+29A>C | - | IntronicSNV | - | 12/79 |
4-106137033-G-A | TET2 | c.1-18067G>A | - | IntronicSNV | - | 2/2 |
6-160834515-T-C | SLC22A3 | c.975+2637T>C | - | IntronicSNV | - | 5/10 |
16-68728611-G-A | CDH3 | c.2003-547G>A | - | IntronicSNV | - | 13/15 |
10-123350191-T-C | FGFR2 | c.109+3032A>G | - | IntronicSNV | - | 2/17 |
7-98028466-T-C | BAIAP2L1 | c.51+1648A>G | - | IntronicSNV | - | 1/13 |
5-45285718-A-C | HCN1 | c.1618+17983T>G | - | IntronicSNV | - | 6/7 |
5-56118875-G-A | MAP3K1 | c.482+6993G>A | - | IntronicSNV | - | 1/19 |
7-97773812-C-A | LMTK2 | c.376+2959C>A | - | IntronicSNV | - | 3/13 |
11-111156836-T-C | C11orf53 | c.*57T>C | - | 3-UTRSNV | 5/5 | - |
6-127653758-G-C | ECHDC1 | c.1-1585C>G | - | IntronicSNV | - | 1/5 |
6-127653758-G-A | ECHDC1 | c.1-1585C>T | - | IntronicSNV | - | 1/5 |
10-123351324-T-C | FGFR2 | c.109+1899A>G | - | IntronicSNV | - | 2/17 |
12-51179340-G-A | ATF1 | c.93+5319G>A | - | IntronicSNV | - | 2/6 |
10-123649969-A-G | ATE1 | c.942+9412T>C | - | IntronicSNV | - | 7/11 |
10-123643711-A-C | ATE1 | c.943-14158T>G | - | IntronicSNV | - | 7/11 |
2-63087778-T-C | EHBP1 | c.862+1352T>C | - | IntronicSNV | - | 9/24 |
6-160820978-G-A | SLC22A3 | c.533+1864G>A | - | IntronicSNV | - | 2/10 |
12-50747005-T-C | FAM186A | c.3610A>G | p.Arg1204Gly | Missense | 4/8 | - |
7-97922851-C-T | BAIAP2L1 | c.1518G>A | p.Ser506Ser | Synonymous | 14/14 | - |
7-97935671-C-G | BAIAP2L1 | c.1241+80G>C | - | IntronicSNV | - | 11/13 |
13-95866614-G-A | ABCC4 | c.532-3579C>T | - | IntronicSNV | - | 4/30 |
13-95888277-T-C | ABCC4 | c.307-1189A>G | - | IntronicSNV | - | 3/30 |
3-127905518-G-A | EEFSEC | c.316+32852G>A | - | IntronicSNV | - | 1/6 |
9-6233376-T-C | IL33 | c.1-8319T>C | - | IntronicSNV | - | 1/7 |
17-47436749-G-C | ZNF652 | c.-259+3026C>G | - | intron_variant | - | 1/5 |
17-48244531-C-G | SGCA | c.38-198C>G | - | IntronicSNV | - | 1/9 |
6-51634608-C-T | PKHD1 | c.8642+2892G>A | - | IntronicSNV | - | 55/66 |
7-97797778-G-A | LMTK2 | c.658-3075G>A | - | IntronicSNV | - | 6/13 |
16-68806508-C-A | CDH1 | c.164-29065C>A | - | IntronicSNV | - | 2/15 |
3-87291880-G-C | CHMP2B | c.126+1940G>C | - | IntronicSNV | - | 2/5 |
10-80937805-G-T | ZMIZ1 | c.1-23585G>T | - | IntronicSNV | - | 1/24 |
3-127905451-A-G | EEFSEC | c.316+32785A>G | - | IntronicSNV | - | 1/6 |
10-123645577-C-T | ATE1 | c.942+13804G>A | - | IntronicSNV | - | 7/11 |
2-20987739-G-A | LDAH | c.298+2276C>T | - | IntronicSNV | - | 3/6 |
7-98016417-C-A | BAIAP2L1 | c.51+13697G>T | - | IntronicSNV | - | 1/13 |
16-68806539-G-T | CDH1 | c.164-29034G>T | - | IntronicSNV | - | 2/15 |
3-127948060-A-T | EEFSEC | c.317-17619A>T | - | IntronicSNV | - | 1/6 |
3-27492150-G-C | SLC4A7 | c.115+1758C>G | - | IntronicSNV | - | 2/24 |
16-68778996-G-A | CDH1 | c.163+6682G>A | - | IntronicSNV | - | 2/15 |
7-27966984-C-T | JAZF1 | c.189-31949G>A | - | IntronicSNV | - | 2/4 |
12-50652929-T-C | LIMA1 | c.1-10395A>G | - | IntronicSNV | - | 1/10 |
16-68784587-G-C | CDH1 | c.163+12273G>C | - | IntronicSNV | - | 2/15 |
10-126684074-C-G | CTBP2 | c.566-822G>C | - | IntronicSNV | - | 6/10 |
15-48753624-C-A | FBN1 | c.5225-1110G>T | - | IntronicSNV | - | 42/65 |
10-126688200-C-A | CTBP2 | c.359-1461G>T | - | IntronicSNV | - | 5/10 |
11-111171646-T-G | COLCA2 | c.-190+300T>G | - | intron_variant | - | 2/4 |
15-48834860-A-G | FBN1 | c.539-4855T>C | - | IntronicSNV | - | 6/65 |
4-95494126-G-A | PDLIM5 | c.249-376G>A | - | IntronicSNV | - | 3/12 |
20-60964064-A-G | CABLES2 | c.*1963T>C | - | 3-UTRSNV | 10/10 | - |
4-95555932-C-T | PDLIM5 | c.782-5495C>T | - | IntronicSNV | - | 8/12 |
6-152129129-C-A | ESR1 | c.82C>A | p.Arg28Ser | Missense | 1/8 | - |
10-123726133-C-T | NSMCE4A | c.653+1037G>A | - | IntronicSNV | - | 4/10 |
4-95581543-A-T | PDLIM5 | c.1259-2030A>T | - | IntronicSNV | - | 11/12 |
22-40436973-G-C | FAM83F | c.*11404G>C | - | IntergenicSNV | 5/5 | - |
10-123619877-C-T | ATE1 | c.975+9644G>A | - | IntronicSNV | - | 8/11 |
7-97937258-T-A | BAIAP2L1 | c.956-50A>T | - | IntronicSNV | - | 9/13 |
19-38743962-A-G | PPP1R14A | c.202-348T>C | - | IntronicSNV | - | 1/3 |
20-60918087-G-C | LAMA5 | c.1477+2787C>G | - | IntronicSNV | - | 11/79 |
3-169567241-A-T | LRRC31 | c.1160-1166T>A | - | IntronicSNV | - | 7/8 |
7-97807882-C-G | LMTK2 | c.792-6481C>G | - | IntronicSNV | - | 7/13 |
13-95885342-A-T | ABCC4 | c.531+1522T>A | - | IntronicSNV | - | 4/30 |
13-95885342-A-G | ABCC4 | c.531+1522T>C | - | IntronicSNV | - | 4/30 |
16-68788909-G-T | CDH1 | c.163+16595G>T | - | IntronicSNV | - | 2/15 |
6-160774459-C-T | SLC22A3 | c.429+4579C>T | - | IntronicSNV | - | 1/10 |
4-95466965-T-C | PDLIM5 | c.248+21939T>C | - | IntronicSNV | - | 3/12 |
4-95441592-C-T | PDLIM5 | c.97-3283C>T | - | IntronicSNV | - | 2/12 |
11-111140043-C-G | C11orf53 | c.121-12080C>G | - | intron_variant | - | 2/4 |
10-123660230-C-G | ATE1 | c.814-721G>C | - | IntronicSNV | - | 6/11 |
15-48816812-A-T | FBN1 | c.988+1515T>A | - | IntronicSNV | - | 9/65 |
5-56119190-C-A | MAP3K1 | c.482+7308C>A | - | IntronicSNV | - | 1/19 |
16-68774800-G-T | CDH1 | c.163+2486G>T | - | IntronicSNV | - | 2/15 |
6-127635285-C-A | ECHDC1 | c.497+676G>T | - | IntronicSNV | - | 5/5 |
21-31128903-T-A | GRIK1 | c.119-62521A>T | - | IntronicSNV | - | 1/16 |
21-31128903-T-C | GRIK1 | c.119-62521A>G | - | IntronicSNV | - | 1/16 |
6-151932778-A-G | CCDC170 | c.1711-3800A>G | - | IntronicSNV | - | 9/10 |
16-68774800-G-C | CDH1 | c.163+2486G>C | - | IntronicSNV | - | 2/15 |
10-123624305-T-C | ATE1 | c.975+5216A>G | - | IntronicSNV | - | 8/11 |
7-97822210-G-A | LMTK2 | c.2433G>A | p.Pro811Pro | Synonymous | 11/14 | - |
7-97924483-G-A | BAIAP2L1 | c.1423-1060C>T | - | IntronicSNV | - | 12/13 |
4-95579739-A-T | PDLIM5 | c.1258+1041A>T | - | IntronicSNV | - | 11/12 |
2-20878105-A-G | GDF7 | c.*6920A>G | - | IntergenicSNV | 2/2 | - |
19-33584491-C-T | GPATCH1 | c.455+66C>T | - | IntronicSNV | - | 4/19 |
7-28005988-C-A | JAZF1 | c.188+25540G>T | - | IntronicSNV | - | 2/4 |
12-51042890-C-A | DIP2B | c.301+8255C>A | - | IntronicSNV | - | 3/37 |
10-123332577-C-T | FGFR2 | c.110-7359G>A | - | IntronicSNV | - | 2/17 |
10-123332577-C-G | FGFR2 | c.110-7359G>C | - | IntronicSNV | - | 2/17 |
7-28030486-T-C | JAZF1 | c.188+1042A>G | - | IntronicSNV | - | 2/4 |
2-20929067-T-C | LDAH | c.703+10664A>G | - | IntronicSNV | - | 5/6 |
15-48813835-G-T | FBN1 | c.989-821C>A | - | IntronicSNV | - | 9/65 |
10-5926131-G-A | ANKRD16 | c.579-91C>T | - | IntronicSNV | - | 3/7 |
6-117222162-T-G | RFX6 | c.672+5792T>G | - | IntronicSNV | - | 6/18 |
6-160774441-G-A | SLC22A3 | c.429+4561G>A | - | IntronicSNV | - | 1/10 |
7-98005332-A-C | BAIAP2L1 | c.52-13588T>G | - | IntronicSNV | - | 1/13 |
3-169554084-G-A | LRRIQ4 | c.1531-1183G>A | - | IntronicSNV | - | 4/4 |
6-117218355-G-A | RFX6 | c.672+1985G>A | - | IntronicSNV | - | 6/18 |
7-98010811-G-T | BAIAP2L1 | c.52-19067C>A | - | IntronicSNV | - | 1/13 |
3-27433397-A-T | SLC4A7 | c.3091-98T>A | - | IntronicSNV | - | 20/24 |
15-48779138-G-T | FBN1 | c.3589+134C>A | - | IntronicSNV | - | 29/65 |
3-169568510-T-C | LRRC31 | c.1159+897A>G | - | IntronicSNV | - | 7/8 |
11-1884342-G-A | LSP1 | c.53+9915G>A | - | IntronicSNV | - | 1/10 |
15-48720271-C-G | FBN1 | c.6997+272G>C | - | IntronicSNV | - | 57/65 |
4-95537849-A-G | PDLIM5 | c.594-1306A>G | - | IntronicSNV | - | 7/12 |
7-27997214-G-C | JAZF1 | c.188+34314C>G | - | IntronicSNV | - | 2/4 |
6-41527698-G-A | FOXP4 | c.1-5801G>A | - | IntronicSNV | - | 1/16 |
13-95891416-T-A | ABCC4 | c.307-4328A>T | - | IntronicSNV | - | 3/30 |
13-95862196-A-G | ABCC4 | c.622-345T>C | - | IntronicSNV | - | 5/30 |
12-51086931-T-C | DIP2B | c.1719+135T>C | - | IntronicSNV | - | 14/37 |
15-48910240-A-G | FBN1 | c.165-4951T>C | - | IntronicSNV | - | 2/65 |
16-68729112-A-T | CDH3 | c.2003-46A>T | - | IntronicSNV | - | 13/15 |
16-68729112-A-G | CDH3 | c.2003-46A>G | - | IntronicSNV | - | 13/15 |
7-97927045-G-A | BAIAP2L1 | c.1423-3622C>T | - | IntronicSNV | - | 12/13 |
15-48906577-A-G | FBN1 | c.165-1288T>C | - | IntronicSNV | - | 2/65 |
17-48263903-A-G | COL1A1 | c.3815-35T>C | - | IntronicSNV | - | 48/50 |
10-126691180-G-A | CTBP2 | c.358+349C>T | - | IntronicSNV | - | 5/10 |
4-95586279-T-G | PDLIM5 | c.*1061T>G | - | 3-UTRSNV | 13/13 | - |
6-117251251-C-T | RFX6 | c.2611+1117C>T | - | IntronicSNV | - | 18/18 |
13-95872515-A-C | ABCC4 | c.532-9480T>G | - | IntronicSNV | - | 4/30 |
7-27936709-T-G | JAZF1 | c.189-1674A>C | - | IntronicSNV | - | 2/4 |
3-127935461-G-T | EEFSEC | c.317-30218G>T | - | IntronicSNV | - | 1/6 |
7-98016417-C-G | BAIAP2L1 | c.51+13697G>C | - | IntronicSNV | - | 1/13 |
4-95544162-C-T | PDLIM5 | c.781+4820C>T | - | IntronicSNV | - | 8/12 |
7-97822115-T-A | LMTK2 | c.2338T>A | p.Leu780Met | Missense | 11/14 | - |
15-48720271-C-A | FBN1 | c.6997+272G>T | - | IntronicSNV | - | 57/65 |
5-10453133-A-G | ROPN1L | c.417+2908A>G | - | IntronicSNV | - | 3/4 |
4-95439956-A-C | PDLIM5 | c.97-4919A>C | - | IntronicSNV | - | 2/12 |
3-169506141-C-T | MYNN | c.*1675C>T | - | 3-UTRSNV | 8/8 | - |
7-98016373-G-A | BAIAP2L1 | c.51+13741C>T | - | IntronicSNV | - | 1/13 |
2-43537711-C-A | THADA | c.4438+9874G>T | - | IntronicSNV | - | 31/37 |
4-95428800-A-G | PDLIM5 | c.97-16075A>G | - | IntronicSNV | - | 2/12 |
6-117210606-A-G | RFX6 | c.567-4544A>G | - | IntronicSNV | - | 4/18 |
12-51073523-G-A | DIP2B | c.1114+864G>A | - | IntronicSNV | - | 8/37 |
7-27989768-G-A | JAZF1 | c.188+41760C>T | - | IntronicSNV | - | 2/4 |
10-123338975-A-T | FGFR2 | c.110-13757T>A | - | IntronicSNV | - | 2/17 |
10-123677907-T-G | ATE1 | c.233+3957A>C | - | IntronicSNV | - | 3/11 |
10-123677907-T-C | ATE1 | c.233+3957A>G | - | IntronicSNV | - | 3/11 |
10-123338975-A-G | FGFR2 | c.110-13757T>C | - | IntronicSNV | - | 2/17 |
6-51516958-T-C | PKHD1 | c.11175-2940A>G | - | IntronicSNV | - | 61/66 |
13-95878842-G-A | ABCC4 | c.531+8022C>T | - | IntronicSNV | - | 4/30 |
19-33572397-G-A | GPATCH1 | c.73+225G>A | - | IntronicSNV | - | 1/19 |
7-97934150-T-C | BAIAP2L1 | c.1242-462A>G | - | IntronicSNV | - | 11/13 |
4-106138146-T-C | TET2 | c.1-16954T>C | - | IntronicSNV | - | 2/2 |
7-97925382-T-G | BAIAP2L1 | c.1423-1959A>C | - | IntronicSNV | - | 12/13 |
6-127633810-A-T | ECHDC1 | c.497+2151T>A | - | IntronicSNV | - | 5/5 |
13-95866580-A-G | ABCC4 | c.532-3545T>C | - | IntronicSNV | - | 4/30 |
2-43590329-C-T | THADA | c.4228-18953G>A | - | IntronicSNV | - | 29/37 |
6-41536587-T-G | FOXP4 | c.204+2885T>G | - | IntronicSNV | - | 2/16 |
16-68815838-T-A | CDH1 | c.164-19735T>A | - | IntronicSNV | - | 2/15 |
15-33025979-C-T | GREM1 | c.*2533C>T | - | 3-UTRSNV | 2/2 | - |
6-160838361-A-G | SLC22A3 | c.975+6483A>G | - | IntronicSNV | - | 5/10 |
15-48729648-T-C | FBN1 | c.6314-64A>G | - | IntronicSNV | - | 51/65 |
13-95866580-A-C | ABCC4 | c.532-3545T>G | - | IntronicSNV | - | 4/30 |
4-95580404-C-T | PDLIM5 | c.1258+1706C>T | - | IntronicSNV | - | 11/12 |
16-52544078-A-G | TOX3 | c.87+36471T>C | - | IntronicSNV | - | 1/6 |
16-68822341-C-G | CDH1 | c.164-13232C>G | - | IntronicSNV | - | 2/15 |
6-160853286-G-A | SLC22A3 | c.976-4526G>A | - | IntronicSNV | - | 5/10 |
15-48912623-C-T | FBN1 | c.165-7334G>A | - | IntronicSNV | - | 2/65 |
6-117245001-T-C | RFX6 | c.1555+614T>C | - | IntronicSNV | - | 14/18 |
10-123591176-T-C | ATE1 | c.1257+5057A>G | - | IntronicSNV | - | 10/11 |
7-98027306-T-C | BAIAP2L1 | c.51+2808A>G | - | IntronicSNV | - | 1/13 |
6-127597780-G-T | RNF146 | c.-348-3596G>T | - | intron_variant | - | 1/4 |
6-127597780-G-C | RNF146 | c.-348-3596G>C | - | intron_variant | - | 1/4 |
22-40505863-T-G | TNRC6B | c.-120-7196T>G | - | intron_variant | - | 1/23 |
16-52571605-T-A | TOX3 | c.87+8944A>T | - | IntronicSNV | - | 1/6 |
16-52571605-T-C | TOX3 | c.87+8944A>G | - | IntronicSNV | - | 1/6 |
7-97931489-G-T | BAIAP2L1 | c.1422+2019C>A | - | IntronicSNV | - | 12/13 |
15-48839065-G-A | FBN1 | c.539-9060C>T | - | IntronicSNV | - | 6/65 |
10-123722906-C-T | NSMCE4A | c.754-63G>A | - | IntronicSNV | - | 5/10 |
15-48822627-C-T | FBN1 | c.862+3650G>A | - | IntronicSNV | - | 8/65 |
7-97931489-G-C | BAIAP2L1 | c.1422+2019C>G | - | IntronicSNV | - | 12/13 |
7-97931489-G-A | BAIAP2L1 | c.1422+2019C>T | - | IntronicSNV | - | 12/13 |
15-48894610-G-C | FBN1 | c.347-2179C>G | - | IntronicSNV | - | 4/65 |
6-117240593-G-A | RFX6 | c.1182+134G>A | - | IntronicSNV | - | 11/18 |
5-56177443-G-C | MAP3K1 | c.2416G>C | p.Asp806His | Missense | 14/20 | - |
16-68721470-T-C | CDH3 | c.1626T>C | p.Asn542Asn | Synonymous | 12/16 | - |
13-95865018-C-G | ABCC4 | c.532-1983G>C | - | IntronicSNV | - | 4/30 |
13-95865018-C-T | ABCC4 | c.532-1983G>A | - | IntronicSNV | - | 4/30 |
4-95438406-T-C | PDLIM5 | c.97-6469T>C | - | IntronicSNV | - | 2/12 |
3-128095652-T-C | EEFSEC | c.1600+18436T>C | - | IntronicSNV | - | 6/6 |
6-51635481-T-C | PKHD1 | c.8642+2019A>G | - | IntronicSNV | - | 55/66 |
6-160797625-G-T | SLC22A3 | c.430-21386G>T | - | IntronicSNV | - | 1/10 |
12-50730458-C-G | FAM186A | c.6504-2572G>C | - | IntronicSNV | - | 4/7 |
3-127946788-G-A | EEFSEC | c.317-18891G>A | - | IntronicSNV | - | 1/6 |
3-127918000-G-A | EEFSEC | c.316+45334G>A | - | IntronicSNV | - | 1/6 |
12-51185764-C-G | ATF1 | c.94-3928C>G | - | IntronicSNV | - | 2/6 |
12-50730458-C-T | FAM186A | c.6504-2572G>A | - | IntronicSNV | - | 4/7 |
10-123633529-A-G | ATE1 | c.943-3976T>C | - | IntronicSNV | - | 7/11 |
12-51089734-T-A | DIP2B | c.1917T>A | p.Thr639Thr | Synonymous | 16/38 | - |
4-95503902-T-C | PDLIM5 | c.384-2814T>C | - | IntronicSNV | - | 5/12 |
10-126697327-A-G | CTBP2 | c.59-5266T>C | - | IntronicSNV | - | 3/10 |
3-87290389-A-G | CHMP2B | c.126+449A>G | - | IntronicSNV | - | 2/5 |
10-126697327-A-T | CTBP2 | c.59-5266T>A | - | IntronicSNV | - | 3/10 |
7-97950620-A-G | BAIAP2L1 | c.215-1010T>C | - | IntronicSNV | - | 3/13 |
3-87290389-A-T | CHMP2B | c.126+449A>T | - | IntronicSNV | - | 2/5 |
5-10451154-G-A | ROPN1L | c.417+929G>A | - | IntronicSNV | - | 3/4 |
10-5926931-A-C | ANKRD16 | c.578+755T>G | - | IntronicSNV | - | 3/7 |
10-5926931-A-G | ANKRD16 | c.578+755T>C | - | IntronicSNV | - | 3/7 |
10-80852768-T-G | ZMIZ1 | c.-337+23741T>G | - | intron_variant | - | 1/24 |
12-50739008-C-T | FAM186A | c.6503+5104G>A | - | IntronicSNV | - | 4/7 |
7-97975542-T-G | BAIAP2L1 | c.214+8812A>C | - | IntronicSNV | - | 3/13 |
4-95555833-G-A | PDLIM5 | c.782-5594G>A | - | IntronicSNV | - | 8/12 |
6-51634438-T-C | PKHD1 | c.8642+3062A>G | - | IntronicSNV | - | 55/66 |
7-97975542-T-A | BAIAP2L1 | c.214+8812A>T | - | IntronicSNV | - | 3/13 |
6-51634438-T-A | PKHD1 | c.8642+3062A>T | - | IntronicSNV | - | 55/66 |
10-123651987-T-C | ATE1 | c.942+7394A>G | - | IntronicSNV | - | 7/11 |
15-48835935-C-T | FBN1 | c.539-5930G>A | - | IntronicSNV | - | 6/65 |
15-48896830-T-C | FBN1 | c.347-4399A>G | - | IntronicSNV | - | 4/65 |
12-51074873-T-A | DIP2B | c.1206+327T>A | - | IntronicSNV | - | 9/37 |
6-51518321-T-G | PKHD1 | c.11175-4303A>C | - | IntronicSNV | - | 61/66 |
4-95514609-A-C | PDLIM5 | c.593+7014A>C | - | IntronicSNV | - | 7/12 |
3-127944477-C-G | EEFSEC | c.317-21202C>G | - | IntronicSNV | - | 1/6 |
3-127944477-C-A | EEFSEC | c.317-21202C>A | - | IntronicSNV | - | 1/6 |
3-37961683-A-G | CTDSPL | c.80-26865A>G | - | IntronicSNV | - | 1/6 |
3-37961683-A-C | CTDSPL | c.80-26865A>C | - | IntronicSNV | - | 1/6 |
10-123645925-C-T | ATE1 | c.942+13456G>A | - | IntronicSNV | - | 7/11 |
5-10451417-T-C | ROPN1L | c.417+1192T>C | - | IntronicSNV | - | 3/4 |
13-95886276-T-C | ABCC4 | c.531+588A>G | - | IntronicSNV | - | 4/30 |
6-41519522-G-A | FOXP4 | c.-17+4917G>A | - | intron_variant | - | 1/16 |
6-51654431-T-C | PKHD1 | c.8440+1603A>G | - | IntronicSNV | - | 53/66 |
9-6219176-G-C | IL33 | c.-12+3324G>C | - | intron_variant | - | 1/7 |
7-97921533-A-G | BAIAP2L1 | c.*1300T>C | - | 3-UTRSNV | 14/14 | - |
6-51635011-C-T | PKHD1 | c.8642+2489G>A | - | IntronicSNV | - | 55/66 |
6-160856843-C-T | SLC22A3 | c.976-969C>T | - | IntronicSNV | - | 5/10 |
4-95510638-G-A | PDLIM5 | c.593+3043G>A | - | IntronicSNV | - | 7/12 |
12-50727811-C-T | FAM186A | c.6579G>A | p.Met2193Ile | Missense | 5/8 | - |
22-40493860-C-T | TNRC6B | c.-120-19199C>T | - | intron_variant | - | 1/23 |
15-48779138-G-A | FBN1 | c.3589+134C>T | - | IntronicSNV | - | 29/65 |
4-95460949-G-A | PDLIM5 | c.248+15923G>A | - | IntronicSNV | - | 3/12 |
6-117252197-C-T | RFX6 | c.2612-297C>T | - | IntronicSNV | - | 18/18 |
3-128119565-A-G | EEFSEC | c.1601-7347A>G | - | IntronicSNV | - | 6/6 |
3-169512145-C-A | LRRC34 | c.1096-519G>T | - | IntronicSNV | - | 9/9 |
4-95493721-A-G | PDLIM5 | c.249-781A>G | - | IntronicSNV | - | 3/12 |
10-80834685-C-T | ZMIZ1 | c.-337+5658C>T | - | intron_variant | - | 1/24 |
4-106151642-G-A | TET2 | c.1-3458G>A | - | IntronicSNV | - | 2/2 |
4-95563972-G-A | PDLIM5 | c.956+2371G>A | - | IntronicSNV | - | 9/12 |
4-95544285-T-C | PDLIM5 | c.781+4943T>C | - | IntronicSNV | - | 8/12 |
6-160860430-C-T | SLC22A3 | c.1288+2187C>T | - | IntronicSNV | - | 7/10 |
15-48820901-T-C | FBN1 | c.863-2449A>G | - | IntronicSNV | - | 8/65 |
18-46454048-A-T | SMAD7 | c.743-5768T>A | - | IntronicSNV | - | 3/3 |
10-80838868-T-C | ZMIZ1 | c.-337+9841T>C | - | intron_variant | - | 1/24 |
4-95481377-G-A | PDLIM5 | c.249-13125G>A | - | IntronicSNV | - | 3/12 |
10-126683857-C-T | CTBP2 | c.566-605G>A | - | IntronicSNV | - | 6/10 |
6-117230721-T-A | RFX6 | c.673-1377T>A | - | IntronicSNV | - | 6/18 |
2-63134879-C-A | EHBP1 | c.1290+33212C>A | - | IntronicSNV | - | 11/24 |
13-95838784-G-T | ABCC4 | c.1545+171C>A | - | IntronicSNV | - | 11/30 |
6-160840252-G-A | SLC22A3 | c.975+8374G>A | - | IntronicSNV | - | 5/10 |
5-82973210-C-A | HAPLN1 | c.1-3868G>T | - | IntronicSNV | - | 1/4 |
15-48861476-A-G | FBN1 | c.538+27004T>C | - | IntronicSNV | - | 6/65 |
6-117251663-C-T | RFX6 | c.2612-831C>T | - | IntronicSNV | - | 18/18 |
18-46453156-A-T | SMAD7 | c.743-4876T>A | - | IntronicSNV | - | 3/3 |
11-111140043-C-T | C11orf53 | c.121-12080C>T | - | intron_variant | - | 2/4 |
12-50650564-G-A | LIMA1 | c.1-8030C>T | - | IntronicSNV | - | 1/10 |
16-68824008-A-G | CDH1 | c.164-11565A>G | - | IntronicSNV | - | 2/15 |
10-80835868-G-A | ZMIZ1 | c.-337+6841G>A | - | intron_variant | - | 1/24 |
5-83014848-T-C | HAPLN1 | c.-27+1760A>G | - | intron_variant | - | 1/4 |
6-117235656-G-C | RFX6 | c.781-1515G>C | - | IntronicSNV | - | 7/18 |
6-51619444-G-A | PKHD1 | c.8797+138C>T | - | IntronicSNV | - | 56/66 |
10-80845411-G-A | ZMIZ1 | c.-337+16384G>A | - | intron_variant | - | 1/24 |
10-80845411-G-C | ZMIZ1 | c.-337+16384G>C | - | intron_variant | - | 1/24 |
7-97972946-T-C | BAIAP2L1 | c.214+11408A>G | - | IntronicSNV | - | 3/13 |
15-48724768-C-T | FBN1 | c.6739+295G>A | - | IntronicSNV | - | 55/65 |
12-51209636-A-G | ATF1 | c.671+1414A>G | - | IntronicSNV | - | 6/6 |
6-117242021-T-A | RFX6 | c.1327+404T>A | - | IntronicSNV | - | 12/18 |
6-117242021-T-C | RFX6 | c.1327+404T>C | - | IntronicSNV | - | 12/18 |
10-123662780-C-A | ATE1 | c.584-645G>T | - | IntronicSNV | - | 5/11 |
16-68729525-C-T | CDH3 | c.2134-155C>T | - | IntronicSNV | - | 14/15 |
3-169514585-A-T | LRRC34 | c.760T>A | p.Leu254Ile | Missense | 7/10 | - |
6-117206395-G-A | RFX6 | c.566+2804G>A | - | IntronicSNV | - | 4/18 |
16-68729525-C-G | CDH3 | c.2134-155C>G | - | IntronicSNV | - | 14/15 |
6-151941461-G-A | CCDC170 | c.*2179G>A | - | 3-UTRSNV | 11/11 | - |
15-48759291-G-T | FBN1 | c.4747+844C>A | - | IntronicSNV | - | 38/65 |
7-27937267-C-T | JAZF1 | c.189-2232G>A | - | IntronicSNV | - | 2/4 |
5-10443851-G-A | ROPN1L | c.131+1441G>A | - | IntronicSNV | - | 1/4 |
3-37966945-G-A | CTDSPL | c.80-21603G>A | - | IntronicSNV | - | 1/6 |
10-123649718-C-T | ATE1 | c.942+9663G>A | - | IntronicSNV | - | 7/11 |
6-127659473-A-T | ECHDC1 | c.-3+5008T>A | - | intron_variant | - | 1/5 |
10-123346116-G-A | FGFR2 | c.109+7107C>T | - | IntronicSNV | - | 2/17 |
6-160770360-A-G | SLC22A3 | c.429+480A>G | - | IntronicSNV | - | 1/10 |
7-97781799-C-T | LMTK2 | c.450+1032C>T | - | IntronicSNV | - | 4/13 |
3-128094493-T-C | EEFSEC | c.1600+17277T>C | - | IntronicSNV | - | 6/6 |
7-97878710-T-C | TECPR1 | c.-20+1996A>G | - | intron_variant | - | 2/25 |
22-40526472-C-A | TNRC6B | c.45+4606C>A | - | IntronicSNV | - | 3/23 |
2-63027337-T-G | EHBP1 | c.313-25885T>G | - | IntronicSNV | - | 5/24 |
10-123630087-A-G | ATE1 | c.943-534T>C | - | IntronicSNV | - | 7/11 |
2-63238346-G-C | EHBP1 | c.3316+14445G>C | - | IntronicSNV | - | 21/24 |
15-48859733-A-G | FBN1 | c.538+28747T>C | - | IntronicSNV | - | 6/65 |
3-27468297-C-G | SLC4A7 | c.1124-2654G>C | - | IntronicSNV | - | 7/24 |
6-127650299-T-G | ECHDC1 | c.220+1655A>C | - | IntronicSNV | - | 2/5 |
7-27937203-C-T | JAZF1 | c.189-2168G>A | - | IntronicSNV | - | 2/4 |
6-127650299-T-A | ECHDC1 | c.220+1655A>T | - | IntronicSNV | - | 2/5 |
11-111152496-C-A | C11orf53 | c.163+331C>A | - | intron_variant | - | 3/4 |
17-47436749-G-A | ZNF652 | c.-259+3026C>T | - | intron_variant | - | 1/5 |
15-48778216-C-G | FBN1 | c.3590-523G>C | - | IntronicSNV | - | 29/65 |
16-68810923-T-C | CDH1 | c.164-24650T>C | - | IntronicSNV | - | 2/15 |
11-111152496-C-G | C11orf53 | c.163+331C>G | - | intron_variant | - | 3/4 |
6-41550172-C-T | FOXP4 | c.301-2335C>T | - | IntronicSNV | - | 3/16 |
20-60930093-G-A | LAMA5 | c.451-1786C>T | - | IntronicSNV | - | 2/79 |
20-60930093-G-C | LAMA5 | c.451-1786C>G | - | IntronicSNV | - | 2/79 |
5-83010095-G-A | HAPLN1 | c.-27+6513C>T | - | intron_variant | - | 1/4 |
6-41550172-C-A | FOXP4 | c.301-2335C>A | - | IntronicSNV | - | 3/16 |
3-169486144-A-G | ACTRT3 | c.201-6T>C | - | IntronicSNV | - | 1/1 |
21-31172315-C-T | GRIK1 | c.119-105933G>A | - | IntronicSNV | - | 1/16 |
15-48757195-A-G | FBN1 | c.4942+570T>C | - | IntronicSNV | - | 40/65 |
16-74491733-A-G | GLG1 | c.3265+39T>C | - | IntronicSNV | - | 24/26 |
21-31166904-T-A | GRIK1 | c.119-100522A>T | - | IntronicSNV | - | 1/16 |
16-68802282-G-A | CDH1 | c.163+29968G>A | - | IntronicSNV | - | 2/15 |
7-98004562-T-C | BAIAP2L1 | c.52-12818A>G | - | IntronicSNV | - | 1/13 |
3-127934329-T-A | EEFSEC | c.317-31350T>A | - | IntronicSNV | - | 1/6 |
6-117215114-T-C | RFX6 | c.567-36T>C | - | IntronicSNV | - | 4/18 |
16-52536885-C-A | TOX3 | c.88-34399G>T | - | IntronicSNV | - | 1/6 |
9-6233082-A-G | IL33 | c.1-8613A>G | - | IntronicSNV | - | 1/7 |
4-95451193-G-T | PDLIM5 | c.248+6167G>T | - | IntronicSNV | - | 3/12 |
9-6233082-A-T | IL33 | c.1-8613A>T | - | IntronicSNV | - | 1/7 |
9-6240324-T-C | IL33 | c.1-1371T>C | - | IntronicSNV | - | 1/7 |
19-33572972-A-G | GPATCH1 | c.73+800A>G | - | IntronicSNV | - | 1/19 |
21-31159150-A-G | GRIK1 | c.119-92768T>C | - | IntronicSNV | - | 1/16 |
3-127940353-T-G | EEFSEC | c.317-25326T>G | - | IntronicSNV | - | 1/6 |
7-97921834-A-G | BAIAP2L1 | c.*999T>C | - | 3-UTRSNV | 14/14 | - |
3-127895226-A-G | EEFSEC | c.316+22560A>G | - | IntronicSNV | - | 1/6 |
16-52543645-C-A | TOX3 | c.87+36904G>T | - | IntronicSNV | - | 1/6 |
13-95838523-A-G | ABCC4 | c.1545+432T>C | - | IntronicSNV | - | 11/30 |
4-95473162-A-G | PDLIM5 | c.249-21340A>G | - | IntronicSNV | - | 3/12 |
3-87291880-G-A | CHMP2B | c.126+1940G>A | - | IntronicSNV | - | 2/5 |
20-60895697-C-T | LAMA5 | c.6677G>A | p.Arg2226His | Missense | 50/80 | - |
3-87291880-G-T | CHMP2B | c.126+1940G>T | - | IntronicSNV | - | 2/5 |
10-123724289-T-G | NSMCE4A | c.753+512A>C | - | IntronicSNV | - | 5/10 |
16-68809273-T-C | CDH1 | c.164-26300T>C | - | IntronicSNV | - | 2/15 |
10-123602565-A-C | ATE1 | c.976-1787T>G | - | IntronicSNV | - | 8/11 |
12-51032415-A-G | DIP2B | c.173-2092A>G | - | IntronicSNV | - | 2/37 |
10-123348902-T-C | FGFR2 | c.109+4321A>G | - | IntronicSNV | - | 2/17 |
10-123676747-G-A | ATE1 | c.234-3339C>T | - | IntronicSNV | - | 3/11 |
3-127931402-A-G | EEFSEC | c.317-34277A>G | - | IntronicSNV | - | 1/6 |
10-123676747-G-C | ATE1 | c.234-3339C>G | - | IntronicSNV | - | 3/11 |
4-106125309-C-T | TET2 | c.-47+13647C>T | - | intron_variant | - | 2/2 |
4-106125309-C-G | TET2 | c.-47+13647C>G | - | intron_variant | - | 2/2 |
2-20924110-T-C | LDAH | c.703+15621A>G | - | IntronicSNV | - | 5/6 |
6-117212689-A-G | RFX6 | c.567-2461A>G | - | IntronicSNV | - | 4/18 |
4-95579366-T-C | PDLIM5 | c.1258+668T>C | - | IntronicSNV | - | 11/12 |
15-48809080-G-A | FBN1 | c.1148-521C>T | - | IntronicSNV | - | 10/65 |
15-48813835-G-A | FBN1 | c.989-821C>T | - | IntronicSNV | - | 9/65 |
6-127655614-G-A | ECHDC1 | c.1-3441C>T | - | IntronicSNV | - | 1/5 |
15-48813835-G-C | FBN1 | c.989-821C>G | - | IntronicSNV | - | 9/65 |
4-95574123-G-A | PDLIM5 | c.957-1488G>A | - | IntronicSNV | - | 9/12 |
15-48713996-G-A | FBN1 | c.7571-113C>T | - | IntronicSNV | - | 61/65 |
7-97965016-A-G | BAIAP2L1 | c.215-15406T>C | - | IntronicSNV | - | 3/13 |
10-123637700-G-A | ATE1 | c.943-8147C>T | - | IntronicSNV | - | 7/11 |
10-5926079-A-C | ANKRD16 | c.579-39T>G | - | IntronicSNV | - | 3/7 |
10-123625190-T-C | ATE1 | c.975+4331A>G | - | IntronicSNV | - | 8/11 |
21-31132797-C-T | GRIK1 | c.119-66415G>A | - | IntronicSNV | - | 1/16 |
4-95561459-A-G | PDLIM5 | c.814A>G | p.Thr272Ala | Missense | 9/13 | - |
21-31132797-C-G | GRIK1 | c.119-66415G>C | - | IntronicSNV | - | 1/16 |
3-37992540-T-C | CTDSPL | c.234+3838T>C | - | IntronicSNV | - | 2/6 |
3-169563450-T-C | LRRC31 | c.1327+2458A>G | - | IntronicSNV | - | 8/8 |
13-95862409-A-T | ABCC4 | c.621+537T>A | - | IntronicSNV | - | 5/30 |
6-160850273-C-T | SLC22A3 | c.976-7539C>T | - | IntronicSNV | - | 5/10 |
15-48857455-A-G | FBN1 | c.539-27450T>C | - | IntronicSNV | - | 6/65 |
15-48905710-C-A | FBN1 | c.165-421G>T | - | IntronicSNV | - | 2/65 |
15-48905710-C-T | FBN1 | c.165-421G>A | - | IntronicSNV | - | 2/65 |
16-68797893-C-T | CDH1 | c.163+25579C>T | - | IntronicSNV | - | 2/15 |
16-68797893-C-A | CDH1 | c.163+25579C>A | - | IntronicSNV | - | 2/15 |
12-50665946-G-T | LIMA1 | c.-24+11257C>A | - | intron_variant | - | 1/10 |
16-52571533-A-T | TOX3 | c.87+9016T>A | - | IntronicSNV | - | 1/6 |
6-51655133-A-C | PKHD1 | c.8440+901T>G | - | IntronicSNV | - | 53/66 |
16-52571533-A-G | TOX3 | c.87+9016T>C | - | IntronicSNV | - | 1/6 |
3-169503432-C-T | MYNN | c.1571-772C>T | - | IntronicSNV | - | 7/7 |
9-6219176-G-T | IL33 | c.-12+3324G>T | - | intron_variant | - | 1/7 |
20-60970675-G-A | CABLES2 | c.528-605C>T | - | IntronicSNV | - | 3/9 |
10-123727970-A-G | NSMCE4A | c.502-649T>C | - | IntronicSNV | - | 3/10 |
10-123727970-A-T | NSMCE4A | c.502-649T>A | - | IntronicSNV | - | 3/10 |
4-95562877-C-T | PDLIM5 | c.956+1276C>T | - | IntronicSNV | - | 9/12 |
6-160779134-G-A | SLC22A3 | c.429+9254G>A | - | IntronicSNV | - | 1/10 |
10-123647228-C-T | ATE1 | c.942+12153G>A | - | IntronicSNV | - | 7/11 |
4-95441162-C-G | PDLIM5 | c.97-3713C>G | - | IntronicSNV | - | 2/12 |
4-95441162-C-T | PDLIM5 | c.97-3713C>T | - | IntronicSNV | - | 2/12 |
10-123653034-G-T | ATE1 | c.942+6347C>A | - | IntronicSNV | - | 7/11 |
11-111135745-A-G | C11orf53 | c.120+8928A>G | - | intron_variant | - | 2/4 |
13-95878641-T-C | ABCC4 | c.531+8223A>G | - | IntronicSNV | - | 4/30 |
19-17430915-G-A | DDA1 | c.*450G>A | - | 3-UTRSNV | 5/5 | - |
2-20970053-G-A | LDAH | c.468+4517C>T | - | IntronicSNV | - | 4/6 |
17-48274291-T-A | COL1A1 | c.804+80A>T | - | IntronicSNV | - | 11/50 |
6-117246429-A-C | RFX6 | c.1679-187A>C | - | IntronicSNV | - | 15/18 |
20-60899182-C-G | LAMA5 | c.5722G>C | p.Ala1908Pro | Missense | 43/80 | - |
15-48747440-C-T | FBN1 | c.5422+1394G>A | - | IntronicSNV | - | 44/65 |
12-51203953-A-G | ATF1 | c.328+581A>G | - | IntronicSNV | - | 4/6 |
20-60899182-C-T | LAMA5 | c.5722G>A | p.Ala1908Thr | Missense | 43/80 | - |
6-160782934-G-T | SLC22A3 | c.429+13054G>T | - | IntronicSNV | - | 1/10 |
6-160782934-G-A | SLC22A3 | c.429+13054G>A | - | IntronicSNV | - | 1/10 |
6-160782934-G-C | SLC22A3 | c.429+13054G>C | - | IntronicSNV | - | 1/10 |
22-40496656-C-T | TNRC6B | c.-120-16403C>T | - | intron_variant | - | 1/23 |
16-68790394-G-A | CDH1 | c.163+18080G>A | - | IntronicSNV | - | 2/15 |
7-27988939-T-C | JAZF1 | c.188+42589A>G | - | IntronicSNV | - | 2/4 |
12-50784312-T-G | FAM186A | c.192+5764A>C | - | IntronicSNV | - | 1/7 |
2-63087778-T-A | EHBP1 | c.862+1352T>A | - | IntronicSNV | - | 9/24 |
15-48706571-A-T | FBN1 | c.8051+1162T>A | - | IntronicSNV | - | 64/65 |
22-40453964-A-C | TNRC6B | c.-121+12962A>C | - | intron_variant | - | 1/23 |
22-40453964-A-G | TNRC6B | c.-121+12962A>G | - | intron_variant | - | 1/23 |
12-50749294-A-G | FAM186A | c.1321T>C | p.Leu441Leu | Synonymous | 4/8 | - |
3-27487705-C-A | SLC4A7 | c.262+2437G>T | - | IntronicSNV | - | 3/24 |
10-123334930-G-T | FGFR2 | c.110-9712C>A | - | IntronicSNV | - | 2/17 |
10-123334930-G-A | FGFR2 | c.110-9712C>T | - | IntronicSNV | - | 2/17 |
10-126688968-A-G | CTBP2 | c.359-2229T>C | - | IntronicSNV | - | 5/10 |
15-48835355-T-C | FBN1 | c.539-5350A>G | - | IntronicSNV | - | 6/65 |
6-127621748-A-T | ECHDC1 | c.498-10326T>A | - | IntronicSNV | - | 5/5 |
3-37966515-A-G | CTDSPL | c.80-22033A>G | - | IntronicSNV | - | 1/6 |
12-51080940-T-C | DIP2B | c.1551+475T>C | - | IntronicSNV | - | 12/37 |
19-33527888-T-C | RHPN2 | c.185+7267A>G | - | IntronicSNV | - | 2/14 |
5-56229288-C-T | MIER3 | c.596-63G>A | - | IntronicSNV | - | 7/12 |
4-95576397-A-G | PDLIM5 | c.1137+606A>G | - | IntronicSNV | - | 10/12 |
15-48803214-G-A | FBN1 | c.1589-848C>T | - | IntronicSNV | - | 13/65 |
3-127889404-T-C | EEFSEC | c.316+16738T>C | - | IntronicSNV | - | 1/6 |
6-151934614-A-G | CCDC170 | c.1711-1964A>G | - | IntronicSNV | - | 9/10 |
6-41536427-C-T | FOXP4 | c.204+2725C>T | - | IntronicSNV | - | 2/16 |
7-97880226-T-G | TECPR1 | c.-20+480A>C | - | intron_variant | - | 2/25 |
12-50750471-G-T | FAM186A | c.584-440C>A | - | IntronicSNV | - | 3/7 |
16-52549935-C-T | TOX3 | c.87+30614G>A | - | IntronicSNV | - | 1/6 |
3-128081260-G-C | EEFSEC | c.1600+4044G>C | - | IntronicSNV | - | 6/6 |
2-20988399-T-C | LDAH | c.298+1616A>G | - | IntronicSNV | - | 3/6 |
4-95579592-G-T | PDLIM5 | c.1258+894G>T | - | IntronicSNV | - | 11/12 |
13-95874956-T-C | ABCC4 | c.531+11908A>G | - | IntronicSNV | - | 4/30 |
6-160770918-T-G | SLC22A3 | c.429+1038T>G | - | IntronicSNV | - | 1/10 |
15-48744489-C-A | FBN1 | c.5545+270G>T | - | IntronicSNV | - | 45/65 |
4-95504312-T-C | PDLIM5 | c.384-2404T>C | - | IntronicSNV | - | 5/12 |
3-128075398-T-G | EEFSEC | c.1444-1662T>G | - | IntronicSNV | - | 5/6 |
7-97951118-T-C | BAIAP2L1 | c.215-1508A>G | - | IntronicSNV | - | 3/13 |
16-52548037-A-G | TOX3 | c.87+32512T>C | - | IntronicSNV | - | 1/6 |
5-56132115-C-G | MAP3K1 | c.482+20233C>G | - | IntronicSNV | - | 1/19 |
6-127621748-A-G | ECHDC1 | c.498-10326T>C | - | IntronicSNV | - | 5/5 |
7-97880226-T-C | TECPR1 | c.-20+480A>G | - | intron_variant | - | 2/25 |
5-44812566-C-T | MRPS30 | c.853+444C>T | - | IntronicSNV | - | 3/4 |
5-56125353-A-G | MAP3K1 | c.482+13471A>G | - | IntronicSNV | - | 1/19 |
6-117252672-C-A | RFX6 | c.*3C>A | - | 3-UTRSNV | 19/19 | - |
5-56125353-A-T | MAP3K1 | c.482+13471A>T | - | IntronicSNV | - | 1/19 |
16-68732977-G-A | CDH3 | c.*674G>A | - | IntergenicSNV | 16/16 | - |
10-80842974-G-A | ZMIZ1 | c.-337+13947G>A | - | intron_variant | - | 1/24 |
15-48774288-A-C | FBN1 | c.3839-311T>G | - | IntronicSNV | - | 31/65 |
15-48774288-A-G | FBN1 | c.3839-311T>C | - | IntronicSNV | - | 31/65 |
10-123645710-T-C | ATE1 | c.942+13671A>G | - | IntronicSNV | - | 7/11 |
21-31172454-C-A | GRIK1 | c.119-106072G>T | - | IntronicSNV | - | 1/16 |
10-5926154-A-G | ANKRD16 | c.579-114T>C | - | IntronicSNV | - | 3/7 |
6-160858188-G-A | SLC22A3 | c.1233G>A | p.Ala411Ala | Synonymous | 7/11 | - |
6-127596985-A-G | RNF146 | c.-348-4391A>G | - | intron_variant | - | 1/4 |
16-52555742-A-G | TOX3 | c.87+24807T>C | - | IntronicSNV | - | 1/6 |
17-36096300-A-G | HNF1B | c.545-2486T>C | - | IntronicSNV | - | 2/8 |
6-41527698-G-C | FOXP4 | c.1-5801G>C | - | IntronicSNV | - | 1/16 |
3-169493283-C-G | MYNN | c.266+934C>G | - | IntronicSNV | - | 2/7 |
3-169552381-A-G | LRRIQ4 | c.1530+1410A>G | - | IntronicSNV | - | 4/4 |
4-106131210-C-T | TET2 | c.-47+19548C>T | - | intron_variant | - | 2/2 |
10-123650692-T-C | ATE1 | c.942+8689A>G | - | IntronicSNV | - | 7/11 |
19-38773522-T-C | SPINT2 | c.107-4994T>C | - | IntronicSNV | - | 1/5 |
15-48710468-A-G | FBN1 | c.7819+2416T>C | - | IntronicSNV | - | 63/65 |
15-48900586-T-C | FBN1 | c.346+2339A>G | - | IntronicSNV | - | 4/65 |
15-48770106-T-C | FBN1 | c.3965-3259A>G | - | IntronicSNV | - | 32/65 |
6-160969738-C-G | LPA | c.4974-47G>C | - | IntronicSNV | - | 30/38 |
15-48750520-C-A | FBN1 | c.5297-1561G>T | - | IntronicSNV | - | 43/65 |
6-160858188-G-C | SLC22A3 | c.1233G>C | p.Ala411Ala | Synonymous | 7/11 | - |
6-127610021-G-C | ECHDC1 | c.*993C>G | - | 3-UTRSNV | 6/6 | - |
3-169493283-C-T | MYNN | c.266+934C>T | - | IntronicSNV | - | 2/7 |
15-48710468-A-T | FBN1 | c.7819+2416T>A | - | IntronicSNV | - | 63/65 |
7-97826340-G-A | LMTK2 | c.4107+2456G>A | - | IntronicSNV | - | 11/13 |
5-56210923-G-A | SETD9 | c.812+130G>A | - | IntronicSNV | - | 5/5 |
7-97793209-G-A | LMTK2 | c.657+4472G>A | - | IntronicSNV | - | 6/13 |
6-41544494-A-G | FOXP4 | c.205-1230A>G | - | IntronicSNV | - | 2/16 |
6-41544494-A-C | FOXP4 | c.205-1230A>C | - | IntronicSNV | - | 2/16 |
3-128038373-C-A | EEFSEC | c.787-21703C>A | - | IntronicSNV | - | 4/6 |
4-95528173-G-A | PDLIM5 | c.594-10982G>A | - | IntronicSNV | - | 7/12 |
4-95424226-G-A | PDLIM5 | c.97-20649G>A | - | IntronicSNV | - | 2/12 |
3-169554264-T-C | LRRIQ4 | c.1531-1003T>C | - | IntronicSNV | - | 4/4 |
10-123609422-T-G | ATE1 | c.976-8644A>C | - | IntronicSNV | - | 8/11 |
6-160851766-T-C | SLC22A3 | c.976-6046T>C | - | IntronicSNV | - | 5/10 |
6-160868654-C-T | SLC22A3 | c.1511-97C>T | - | IntronicSNV | - | 9/10 |
12-50641572-C-T | LIMA1 | c.119+844G>A | - | IntronicSNV | - | 2/10 |
19-33602856-A-G | GPATCH1 | c.1764+48A>G | - | IntronicSNV | - | 12/19 |
16-68729785-C-T | CDH3 | c.2239C>T | p.Arg747Trp | Missense | 15/16 | - |
16-68729785-C-A | CDH3 | c.2239C>A | p.Arg747Arg | Synonymous | 15/16 | - |
22-40434757-A-G | FAM83F | c.*9188A>G | - | IntergenicSNV | 5/5 | - |
6-41554182-A-G | FOXP4 | c.511-565A>G | - | IntronicSNV | - | 5/16 |
3-127934774-C-A | EEFSEC | c.317-30905C>A | - | IntronicSNV | - | 1/6 |
22-40443219-T-C | TNRC6B | c.-121+2217T>C | - | intron_variant | - | 1/23 |
4-95571976-G-C | PDLIM5 | c.957-3635G>C | - | IntronicSNV | - | 9/12 |
16-52572832-G-A | TOX3 | c.87+7717C>T | - | IntronicSNV | - | 1/6 |
7-97782821-G-T | LMTK2 | c.451-1249G>T | - | IntronicSNV | - | 4/13 |
7-97782821-G-A | LMTK2 | c.451-1249G>A | - | IntronicSNV | - | 4/13 |
6-51634964-G-A | PKHD1 | c.8642+2536C>T | - | IntronicSNV | - | 55/66 |
6-117247907-A-C | RFX6 | c.1886-283A>C | - | IntronicSNV | - | 16/18 |
6-117252136-G-A | RFX6 | c.2612-358G>A | - | IntronicSNV | - | 18/18 |
13-95876101-C-G | ABCC4 | c.531+10763G>C | - | IntronicSNV | - | 4/30 |
10-123351302-G-A | FGFR2 | c.109+1921C>T | - | IntronicSNV | - | 2/17 |
15-48701029-C-T | FBN1 | c.*2158G>A | - | 3-UTRSNV | 66/66 | - |
10-5930579-G-A | ANKRD16 | c.314+425C>T | - | IntronicSNV | - | 1/7 |
7-97741795-C-T | LMTK2 | c.103+5203C>T | - | IntronicSNV | - | 1/13 |
4-95575323-G-A | PDLIM5 | c.957-288G>A | - | IntronicSNV | - | 9/12 |
13-95837662-T-C | ABCC4 | c.1545+1293A>G | - | IntronicSNV | - | 11/30 |
22-40468008-T-C | TNRC6B | c.-121+27006T>C | - | intron_variant | - | 1/23 |
16-68774283-T-C | CDH1 | c.163+1969T>C | - | IntronicSNV | - | 2/15 |
13-95858058-A-G | ABCC4 | c.1161+728T>C | - | IntronicSNV | - | 8/30 |
7-97798117-G-A | LMTK2 | c.658-2736G>A | - | IntronicSNV | - | 6/13 |
3-27421457-C-G | SLC4A7 | c.3564-3121G>C | - | IntronicSNV | - | 24/24 |
6-117250515-G-C | RFX6 | c.2611+381G>C | - | IntronicSNV | - | 18/18 |
19-17354825-C-T | NR2F6 | c.278+927G>A | - | IntronicSNV | - | 1/3 |
7-97960066-A-G | BAIAP2L1 | c.215-10456T>C | - | IntronicSNV | - | 3/13 |
3-27421457-C-T | SLC4A7 | c.3564-3121G>A | - | IntronicSNV | - | 24/24 |
3-127940534-A-G | EEFSEC | c.317-25145A>G | - | IntronicSNV | - | 1/6 |
6-151942194-T-G | CCDC170 | c.*2912T>G | - | 3-UTRSNV | 11/11 | - |
10-123651503-G-A | ATE1 | c.942+7878C>T | - | IntronicSNV | - | 7/11 |
10-126685344-C-T | CTBP2 | c.565+1189G>A | - | IntronicSNV | - | 6/10 |
7-97792820-G-A | LMTK2 | c.657+4083G>A | - | IntronicSNV | - | 6/13 |
4-106120756-T-G | TET2 | c.-47+9094T>G | - | intron_variant | - | 2/2 |
4-106120756-T-A | TET2 | c.-47+9094T>A | - | intron_variant | - | 2/2 |
6-127640190-A-G | ECHDC1 | c.364-2543T>C | - | IntronicSNV | - | 3/5 |
16-68713823-C-T | CDH3 | c.813C>T | p.Thr271Thr | Synonymous | 7/16 | - |
6-127640190-A-T | ECHDC1 | c.364-2543T>A | - | IntronicSNV | - | 3/5 |
16-68713823-C-A | CDH3 | c.813C>A | p.Thr271Thr | Synonymous | 7/16 | - |
7-97739317-G-A | LMTK2 | c.103+2725G>A | - | IntronicSNV | - | 1/13 |
15-48792444-A-G | FBN1 | c.2114-1209T>C | - | IntronicSNV | - | 17/65 |
6-127664661-G-C | ECHDC1 | c.-183C>G | - | 5_prime_UTR_variant | 1/6 | - |
6-117237524-G-T | RFX6 | c.972+47G>T | - | IntronicSNV | - | 9/18 |
15-48790716-T-C | FBN1 | c.2167+466A>G | - | IntronicSNV | - | 18/65 |
15-48933821-C-T | FBN1 | c.164+2982G>A | - | IntronicSNV | - | 2/65 |
5-44809945-G-C | MRPS30 | c.601+280G>C | - | IntronicSNV | - | 1/4 |
6-117237524-G-A | RFX6 | c.972+47G>A | - | IntronicSNV | - | 9/18 |
10-80849153-C-T | ZMIZ1 | c.-337+20126C>T | - | intron_variant | - | 1/24 |
6-160808901-G-T | SLC22A3 | c.430-10110G>T | - | IntronicSNV | - | 1/10 |
3-127923187-T-C | EEFSEC | c.317-42492T>C | - | IntronicSNV | - | 1/6 |
7-97946902-T-C | BAIAP2L1 | c.349-234A>G | - | IntronicSNV | - | 5/13 |
6-117243260-T-C | RFX6 | c.1383T>C | p.Thr461Thr | Synonymous | 13/19 | - |
3-169518455-T-C | LRRC34 | c.657+3386A>G | - | IntronicSNV | - | 6/9 |
5-56172646-T-C | MAP3K1 | c.1965+1509T>C | - | IntronicSNV | - | 10/19 |
4-95458450-C-A | PDLIM5 | c.248+13424C>A | - | IntronicSNV | - | 3/12 |
4-95458450-C-T | PDLIM5 | c.248+13424C>T | - | IntronicSNV | - | 3/12 |
5-56226410-T-C | MIER3 | c.829+81A>G | - | IntronicSNV | - | 9/12 |
15-48734445-C-G | FBN1 | c.6038-402G>C | - | IntronicSNV | - | 49/65 |
15-48706571-A-G | FBN1 | c.8051+1162T>C | - | IntronicSNV | - | 64/65 |
13-95861804-A-G | ABCC4 | c.669T>C | p.Ile223Ile | Synonymous | 6/31 | - |
4-95459422-C-A | PDLIM5 | c.248+14396C>A | - | IntronicSNV | - | 3/12 |
13-95875518-C-T | ABCC4 | c.531+11346G>A | - | IntronicSNV | - | 4/30 |
6-160822925-A-G | SLC22A3 | c.533+3811A>G | - | IntronicSNV | - | 2/10 |
20-60916713-A-T | LAMA5 | c.1478-3049T>A | - | IntronicSNV | - | 11/79 |
10-123583975-T-C | ATE1 | c.1257+12258A>G | - | IntronicSNV | - | 10/11 |
16-68814826-G-A | CDH1 | c.164-20747G>A | - | IntronicSNV | - | 2/15 |
15-48805637-G-A | FBN1 | c.1588+109C>T | - | IntronicSNV | - | 13/65 |
5-44810740-T-C | MRPS30 | c.602-371T>C | - | IntronicSNV | - | 1/4 |
19-33575064-G-A | GPATCH1 | c.73+2892G>A | - | IntronicSNV | - | 1/19 |
5-82982945-T-C | HAPLN1 | c.1-13603A>G | - | IntronicSNV | - | 1/4 |
6-160770312-A-G | SLC22A3 | c.429+432A>G | - | IntronicSNV | - | 1/10 |
10-126696872-T-C | CTBP2 | c.59-4811A>G | - | IntronicSNV | - | 3/10 |
10-126695673-G-A | CTBP2 | c.59-3612C>T | - | IntronicSNV | - | 3/10 |
10-123642743-G-C | ATE1 | c.943-13190C>G | - | IntronicSNV | - | 7/11 |
10-123348662-T-G | FGFR2 | c.109+4561A>C | - | IntronicSNV | - | 2/17 |
10-123348662-T-A | FGFR2 | c.109+4561A>T | - | IntronicSNV | - | 2/17 |
10-123642743-G-T | ATE1 | c.943-13190C>A | - | IntronicSNV | - | 7/11 |
6-160771192-G-C | SLC22A3 | c.429+1312G>C | - | IntronicSNV | - | 1/10 |
6-160868701-G-A | SLC22A3 | c.1511-50G>A | - | IntronicSNV | - | 9/10 |
16-68791306-C-G | CDH1 | c.163+18992C>G | - | IntronicSNV | - | 2/15 |
16-68791306-C-A | CDH1 | c.163+18992C>A | - | IntronicSNV | - | 2/15 |
19-33599323-G-T | GPATCH1 | c.1286-1300G>T | - | IntronicSNV | - | 10/19 |
6-160771192-G-A | SLC22A3 | c.429+1312G>A | - | IntronicSNV | - | 1/10 |
21-31178234-T-G | GRIK1 | c.119-111852A>C | - | IntronicSNV | - | 1/16 |
4-95548550-G-A | PDLIM5 | c.781+9208G>A | - | IntronicSNV | - | 8/12 |
7-97822115-T-C | LMTK2 | c.2338T>C | p.Leu780Leu | Synonymous | 11/14 | - |
7-97822115-T-G | LMTK2 | c.2338T>G | p.Leu780Val | Missense | 11/14 | - |
21-31179353-C-G | GRIK1 | c.119-112971G>C | - | IntronicSNV | - | 1/16 |
15-48801935-C-T | FBN1 | c.1714+306G>A | - | IntronicSNV | - | 14/65 |
7-97982103-A-G | BAIAP2L1 | c.214+2251T>C | - | IntronicSNV | - | 3/13 |
5-56120646-G-A | MAP3K1 | c.482+8764G>A | - | IntronicSNV | - | 1/19 |
2-20888265-A-G | LDAH | c.787-1411T>C | - | IntronicSNV | - | 6/6 |
19-33604531-C-T | GPATCH1 | c.1893-142C>T | - | IntronicSNV | - | 13/19 |
6-160842537-T-G | SLC22A3 | c.975+10659T>G | - | IntronicSNV | - | 5/10 |
10-123718277-A-G | NSMCE4A | c.*574T>C | - | IntronicSNV | - | 10/10 |
6-151925783-G-A | CCDC170 | c.1710+8071G>A | - | IntronicSNV | - | 9/10 |
3-127933786-C-T | EEFSEC | c.317-31893C>T | - | IntronicSNV | - | 1/6 |
4-95579739-A-C | PDLIM5 | c.1258+1041A>C | - | IntronicSNV | - | 11/12 |
16-52563626-G-A | TOX3 | c.87+16923C>T | - | IntronicSNV | - | 1/6 |
15-48847615-C-A | FBN1 | c.539-17610G>T | - | IntronicSNV | - | 6/65 |
5-82994293-T-A | HAPLN1 | c.-27+22315A>T | - | intron_variant | - | 1/4 |
13-95864808-G-T | ABCC4 | c.532-1773C>A | - | IntronicSNV | - | 4/30 |
3-27451106-G-C | SLC4A7 | c.1740-85C>G | - | IntronicSNV | - | 12/24 |
3-37996477-T-G | CTDSPL | c.234+7775T>G | - | IntronicSNV | - | 2/6 |
6-151933175-A-G | CCDC170 | c.1711-3403A>G | - | IntronicSNV | - | 9/10 |
21-31191663-G-A | GRIK1 | c.118+120038C>T | - | IntronicSNV | - | 1/16 |
21-31191663-G-T | GRIK1 | c.118+120038C>A | - | IntronicSNV | - | 1/16 |
4-95572699-C-T | PDLIM5 | c.957-2912C>T | - | IntronicSNV | - | 9/12 |
10-80842552-A-G | ZMIZ1 | c.-337+13525A>G | - | intron_variant | - | 1/24 |
3-169562797-G-A | LRRC31 | c.1327+3111C>T | - | IntronicSNV | - | 8/8 |
16-68718750-A-G | CDH3 | c.1424+23A>G | - | IntronicSNV | - | 10/15 |
13-95863358-A-G | ABCC4 | c.532-323T>C | - | IntronicSNV | - | 4/30 |
6-151939770-T-C | CCDC170 | c.*488T>C | - | 3-UTRSNV | 11/11 | - |
16-68816260-G-C | CDH1 | c.164-19313G>C | - | IntronicSNV | - | 2/15 |
16-68816260-G-A | CDH1 | c.164-19313G>A | - | IntronicSNV | - | 2/15 |
12-50637295-T-C | LIMA1 | c.119+5121A>G | - | IntronicSNV | - | 2/10 |
4-95588075-G-A | PDLIM5 | c.*2857G>A | - | 3-UTRSNV | 13/13 | - |
15-48753145-C-A | FBN1 | c.5225-631G>T | - | IntronicSNV | - | 42/65 |
4-106123582-G-A | TET2 | c.-47+11920G>A | - | intron_variant | - | 2/2 |
7-97957104-T-G | BAIAP2L1 | c.215-7494A>C | - | IntronicSNV | - | 3/13 |
10-123669255-G-A | ATE1 | c.583+1166C>T | - | IntronicSNV | - | 5/11 |
22-40507282-T-C | TNRC6B | c.-120-5777T>C | - | intron_variant | - | 1/23 |
15-48933821-C-G | FBN1 | c.164+2982G>C | - | IntronicSNV | - | 2/65 |
12-51040397-G-C | DIP2B | c.301+5762G>C | - | IntronicSNV | - | 3/37 |
5-45285752-A-G | HCN1 | c.1618+17949T>C | - | IntronicSNV | - | 6/7 |
3-37969001-A-G | CTDSPL | c.80-19547A>G | - | IntronicSNV | - | 1/6 |
6-117252341-A-G | RFX6 | c.2612-153A>G | - | IntronicSNV | - | 18/18 |
12-50744753-T-C | FAM186A | c.5862A>G | p.Lys1954Lys | Synonymous | 4/8 | - |
7-97796635-C-T | LMTK2 | c.658-4218C>T | - | IntronicSNV | - | 6/13 |
3-128122396-G-A | EEFSEC | c.1601-4516G>A | - | IntronicSNV | - | 6/6 |
6-127636823-T-C | ECHDC1 | c.416+772A>G | - | IntronicSNV | - | 4/5 |
3-27473556-G-C | SLC4A7 | c.752-396C>G | - | IntronicSNV | - | 6/24 |
16-52548302-C-T | TOX3 | c.87+32247G>A | - | IntronicSNV | - | 1/6 |
12-51185950-C-T | ATF1 | c.94-3742C>T | - | IntronicSNV | - | 2/6 |
5-56159578-T-C | MAP3K1 | c.835-983T>C | - | IntronicSNV | - | 3/19 |
6-160807161-C-T | SLC22A3 | c.430-11850C>T | - | IntronicSNV | - | 1/10 |
15-48847733-T-A | FBN1 | c.539-17728A>T | - | IntronicSNV | - | 6/65 |
15-48847733-T-C | FBN1 | c.539-17728A>G | - | IntronicSNV | - | 6/65 |
13-95863143-A-G | ABCC4 | c.532-108T>C | - | IntronicSNV | - | 4/30 |
16-68834156-C-T | CDH1 | c.164-1417C>T | - | IntronicSNV | - | 2/15 |
16-68834156-C-G | CDH1 | c.164-1417C>G | - | IntronicSNV | - | 2/15 |
21-31184827-A-G | GRIK1 | c.119-118445T>C | - | IntronicSNV | - | 1/16 |
15-48883696-T-C | FBN1 | c.538+4784A>G | - | IntronicSNV | - | 6/65 |
16-68728976-C-G | CDH3 | c.2003-182C>G | - | IntronicSNV | - | 13/15 |
4-95447392-G-A | PDLIM5 | c.248+2366G>A | - | IntronicSNV | - | 3/12 |
15-48789634-T-C | FBN1 | c.2168-46A>G | - | IntronicSNV | - | 18/65 |
5-10449219-A-G | ROPN1L | c.255+724A>G | - | IntronicSNV | - | 2/4 |
7-97825188-G-A | LMTK2 | c.4107+1304G>A | - | IntronicSNV | - | 11/13 |
15-48782563-T-A | FBN1 | c.2855-288A>T | - | IntronicSNV | - | 24/65 |
3-127946788-G-C | EEFSEC | c.317-18891G>C | - | IntronicSNV | - | 1/6 |
15-48827144-T-C | FBN1 | c.737-742A>G | - | IntronicSNV | - | 7/65 |
3-128095767-G-A | EEFSEC | c.1600+18551G>A | - | IntronicSNV | - | 6/6 |
6-151939350-A-C | CCDC170 | c.*68A>C | - | 3-UTRSNV | 11/11 | - |
3-127935461-G-C | EEFSEC | c.317-30218G>C | - | IntronicSNV | - | 1/6 |
6-127635285-C-T | ECHDC1 | c.497+676G>A | - | IntronicSNV | - | 5/5 |
6-160799605-C-T | SLC22A3 | c.430-19406C>T | - | IntronicSNV | - | 1/10 |
10-123653972-A-G | ATE1 | c.942+5409T>C | - | IntronicSNV | - | 7/11 |
3-169528449-C-T | LRRC34 | c.139+1749G>A | - | IntronicSNV | - | 1/9 |
3-169558821-G-A | LRRC31 | c.1328-720C>T | - | IntronicSNV | - | 8/8 |
19-38772481-T-C | SPINT2 | c.107-6035T>C | - | IntronicSNV | - | 1/5 |
12-50725965-T-C | FAM186A | c.6697-361A>G | - | IntronicSNV | - | 5/7 |
6-127600630-G-A | RNF146 | c.-348-746G>A | - | intron_variant | - | 1/4 |
12-51011256-A-T | DIP2B | c.101-8503A>T | - | IntronicSNV | - | 1/37 |
9-6237547-A-C | IL33 | c.1-4148A>C | - | IntronicSNV | - | 1/7 |
10-126690383-C-T | CTBP2 | c.358+1146G>A | - | IntronicSNV | - | 5/10 |
21-31132624-G-T | GRIK1 | c.119-66242C>A | - | IntronicSNV | - | 1/16 |
7-97959214-A-T | BAIAP2L1 | c.215-9604T>A | - | IntronicSNV | - | 3/13 |
6-41516351-A-G | FOXP4 | c.-17+1746A>G | - | intron_variant | - | 1/16 |
7-97959214-A-C | BAIAP2L1 | c.215-9604T>G | - | IntronicSNV | - | 3/13 |
4-95493246-A-G | PDLIM5 | c.249-1256A>G | - | IntronicSNV | - | 3/12 |
3-127916551-G-C | EEFSEC | c.316+43885G>C | - | IntronicSNV | - | 1/6 |
6-41547312-T-C | FOXP4 | c.300+1493T>C | - | IntronicSNV | - | 3/16 |
12-50934931-G-A | DIP2B | c.100+35908G>A | - | IntronicSNV | - | 1/37 |
22-40488127-C-T | TNRC6B | c.1-33695C>T | - | IntronicSNV | - | 1/23 |
15-48703823-A-G | FBN1 | c.8227-247T>C | - | IntronicSNV | - | 65/65 |
15-48850485-G-T | FBN1 | c.539-20480C>A | - | IntronicSNV | - | 6/65 |
6-151939560-T-C | CCDC170 | c.*278T>C | - | 3-UTRSNV | 11/11 | - |
21-31145829-C-T | GRIK1 | c.119-79447G>A | - | IntronicSNV | - | 1/16 |
4-95497654-G-A | PDLIM5 | c.383+469G>A | - | IntronicSNV | - | 5/12 |
6-117244374-T-C | RFX6 | c.1542T>C | p.Asn514Asn | Synonymous | 14/19 | - |
7-97951886-G-C | BAIAP2L1 | c.215-2276C>G | - | IntronicSNV | - | 3/13 |
3-37961376-A-C | CTDSPL | c.80-27172A>C | - | IntronicSNV | - | 1/6 |
13-95878852-G-A | ABCC4 | c.531+8012C>T | - | IntronicSNV | - | 4/30 |
21-31155268-G-A | GRIK1 | c.119-88886C>T | - | IntronicSNV | - | 1/16 |
16-68832414-T-C | CDH1 | c.164-3159T>C | - | IntronicSNV | - | 2/15 |
16-68821271-G-C | CDH1 | c.164-14302G>C | - | IntronicSNV | - | 2/15 |
15-48728634-C-T | FBN1 | c.6496+524G>A | - | IntronicSNV | - | 53/65 |
10-123656394-T-A | ATE1 | c.942+2987A>T | - | IntronicSNV | - | 7/11 |
10-123656394-T-C | ATE1 | c.942+2987A>G | - | IntronicSNV | - | 7/11 |
7-97859060-C-T | TECPR1 | c.2283-582G>A | - | IntronicSNV | - | 15/25 |
4-95508755-C-T | PDLIM5 | c.593+1160C>T | - | IntronicSNV | - | 7/12 |
6-160851766-T-G | SLC22A3 | c.976-6046T>G | - | IntronicSNV | - | 5/10 |
7-28009981-G-A | JAZF1 | c.188+21547C>T | - | IntronicSNV | - | 2/4 |
6-160802239-C-T | SLC22A3 | c.430-16772C>T | - | IntronicSNV | - | 1/10 |
15-48715448-A-T | FBN1 | c.7454-1183T>A | - | IntronicSNV | - | 60/65 |
15-48715448-A-G | FBN1 | c.7454-1183T>C | - | IntronicSNV | - | 60/65 |
20-60897487-C-T | LAMA5 | c.6184G>A | p.Asp2062Asn | Missense | 47/80 | - |
12-51179340-G-C | ATF1 | c.93+5319G>C | - | IntronicSNV | - | 2/6 |
10-126737997-A-C | CTBP2 | c.1-10374T>G | - | IntronicSNV | - | 2/10 |
19-33554109-T-A | RHPN2 | c.69+1581A>T | - | IntronicSNV | - | 1/14 |
12-50744171-T-A | FAM186A | c.6444A>T | p.Thr2148Thr | Synonymous | 4/8 | - |
10-123679684-C-T | ATE1 | c.233+2180G>A | - | IntronicSNV | - | 3/11 |
13-95865899-C-A | ABCC4 | c.532-2864G>T | - | IntronicSNV | - | 4/30 |
5-56120646-G-C | MAP3K1 | c.482+8764G>C | - | IntronicSNV | - | 1/19 |
15-48894908-G-A | FBN1 | c.347-2477C>T | - | IntronicSNV | - | 4/65 |
6-117249384-A-C | RFX6 | c.2399-538A>C | - | IntronicSNV | - | 17/18 |
16-68689419-G-A | CDH3 | c.160+9766G>A | - | IntronicSNV | - | 2/15 |
6-127777516-T-C | SOGA3 | c.*202-2270A>G | - | intron_variant | - | 7/11 |
10-123679684-C-G | ATE1 | c.233+2180G>C | - | IntronicSNV | - | 3/11 |
11-111119694-T-C | C11orf53 | c.10+3106T>C | - | intron_variant | - | 1/4 |
4-95505975-C-T | PDLIM5 | c.384-741C>T | - | IntronicSNV | - | 5/12 |
12-50636364-A-G | LIMA1 | c.119+6052T>C | - | IntronicSNV | - | 2/10 |
2-20884586-G-C | LDAH | c.*2077C>G | - | IntergenicSNV | 7/7 | - |
4-95449752-C-G | PDLIM5 | c.248+4726C>G | - | IntronicSNV | - | 3/12 |
15-48784497-T-C | FBN1 | c.2854+161A>G | - | IntronicSNV | - | 24/65 |
4-95430064-T-C | PDLIM5 | c.97-14811T>C | - | IntronicSNV | - | 2/12 |
15-48705206-T-C | FBN1 | c.8052-266A>G | - | IntronicSNV | - | 64/65 |
10-123658129-A-T | ATE1 | c.942+1252T>A | - | IntronicSNV | - | 7/11 |
3-127916551-G-A | EEFSEC | c.316+43885G>A | - | IntronicSNV | - | 1/6 |
6-117231616-A-T | RFX6 | c.673-482A>T | - | IntronicSNV | - | 6/18 |
3-169559234-G-A | LRRC31 | c.1328-1133C>T | - | IntronicSNV | - | 8/8 |
13-95866467-C-T | ABCC4 | c.532-3432G>A | - | IntronicSNV | - | 4/30 |
7-97944744-G-T | BAIAP2L1 | c.639+28C>A | - | IntronicSNV | - | 7/13 |
19-38765072-C-T | SPINT2 | c.106+9434C>T | - | IntronicSNV | - | 1/5 |
7-97746387-G-A | LMTK2 | c.103+9795G>A | - | IntronicSNV | - | 1/13 |
3-128046643-G-A | EEFSEC | c.787-13433G>A | - | IntronicSNV | - | 4/6 |
3-128059610-G-A | EEFSEC | c.787-466G>A | - | IntronicSNV | - | 4/6 |
10-80836590-C-T | ZMIZ1 | c.-337+7563C>T | - | intron_variant | - | 1/24 |
6-41552040-T-C | FOXP4 | c.301-467T>C | - | IntronicSNV | - | 3/16 |
7-97944744-G-C | BAIAP2L1 | c.639+28C>G | - | IntronicSNV | - | 7/13 |
16-68721340-G-A | CDH3 | c.1571-75G>A | - | IntronicSNV | - | 11/15 |
12-50674753-C-T | LIMA1 | c.-24+2450G>A | - | intron_variant | - | 1/10 |
5-56163787-G-A | MAP3K1 | c.1301+1983G>A | - | IntronicSNV | - | 6/19 |
5-56163787-G-T | MAP3K1 | c.1301+1983G>T | - | IntronicSNV | - | 6/19 |
3-37993376-T-A | CTDSPL | c.234+4674T>A | - | IntronicSNV | - | 2/6 |
3-37993376-T-G | CTDSPL | c.234+4674T>G | - | IntronicSNV | - | 2/6 |
10-123726201-A-T | NSMCE4A | c.653+969T>A | - | IntronicSNV | - | 4/10 |
10-123726201-A-C | NSMCE4A | c.653+969T>G | - | IntronicSNV | - | 4/10 |
10-80937805-G-A | ZMIZ1 | c.1-23585G>A | - | IntronicSNV | - | 1/24 |
5-56133748-G-T | MAP3K1 | c.483-18679G>T | - | IntronicSNV | - | 1/19 |
5-56133748-G-C | MAP3K1 | c.483-18679G>C | - | IntronicSNV | - | 1/19 |
10-123666459-C-T | ATE1 | c.583+3962G>A | - | IntronicSNV | - | 5/11 |
10-123666459-C-A | ATE1 | c.583+3962G>T | - | IntronicSNV | - | 5/11 |
12-51089287-G-T | DIP2B | c.1813+144G>T | - | IntronicSNV | - | 15/37 |
7-97816638-G-C | LMTK2 | c.998+328G>C | - | IntronicSNV | - | 9/13 |
15-48724768-C-G | FBN1 | c.6739+295G>C | - | IntronicSNV | - | 55/65 |
15-48775793-C-T | FBN1 | c.3838+222G>A | - | IntronicSNV | - | 31/65 |
9-6236977-A-T | IL33 | c.1-4718A>T | - | IntronicSNV | - | 1/7 |
11-111173290-C-T | COLCA2 | c.-190+1944C>T | - | intron_variant | - | 2/4 |
5-83003535-G-A | HAPLN1 | c.-27+13073C>T | - | intron_variant | - | 1/4 |
10-123594941-A-G | ATE1 | c.1257+1292T>C | - | IntronicSNV | - | 10/11 |
10-123624175-T-C | ATE1 | c.975+5346A>G | - | IntronicSNV | - | 8/11 |
3-169522387-G-C | LRRC34 | c.529-418C>G | - | IntronicSNV | - | 5/9 |
15-48734624-G-A | FBN1 | c.6038-581C>T | - | IntronicSNV | - | 49/65 |
6-127607026-T-A | RNF146 | c.1-736T>A | - | IntronicSNV | - | 3/4 |
6-127607026-T-C | RNF146 | c.1-736T>C | - | IntronicSNV | - | 3/4 |
6-41533579-C-A | FOXP4 | c.81C>A | p.Ala27Ala | Synonymous | 2/17 | - |
15-48760897-G-A | FBN1 | c.4460-166C>T | - | IntronicSNV | - | 36/65 |
6-160775578-G-T | SLC22A3 | c.429+5698G>T | - | IntronicSNV | - | 1/10 |
5-56175566-C-G | MAP3K1 | c.2087+638C>G | - | IntronicSNV | - | 11/19 |
4-106148758-G-C | TET2 | c.1-6342G>C | - | IntronicSNV | - | 2/2 |
4-106148758-G-A | TET2 | c.1-6342G>A | - | IntronicSNV | - | 2/2 |
3-169570241-A-C | LRRC31 | c.992-667T>G | - | IntronicSNV | - | 6/8 |
12-50727706-G-C | FAM186A | c.6684C>G | p.His2228Gln | Missense | 5/8 | - |
12-50727706-G-A | FAM186A | c.6684C>T | p.His2228His | Synonymous | 5/8 | - |
7-97957517-G-A | BAIAP2L1 | c.215-7907C>T | - | IntronicSNV | - | 3/13 |
4-95527759-C-T | PDLIM5 | c.594-11396C>T | - | IntronicSNV | - | 7/12 |
4-95521863-G-T | PDLIM5 | c.593+14268G>T | - | IntronicSNV | - | 7/12 |
4-95521863-G-A | PDLIM5 | c.593+14268G>A | - | IntronicSNV | - | 7/12 |
15-48907181-C-T | FBN1 | c.165-1892G>A | - | IntronicSNV | - | 2/65 |
15-48905816-T-C | FBN1 | c.165-527A>G | - | IntronicSNV | - | 2/65 |
12-50747005-T-A | FAM186A | c.3610A>T | p.Arg1204Trp | Missense | 4/8 | - |
4-95527759-C-G | PDLIM5 | c.594-11396C>G | - | IntronicSNV | - | 7/12 |
8-23538008-C-A | NKX3-1 | c.*726G>T | - | 3-UTRSNV | 3/3 | - |
7-97960664-G-A | BAIAP2L1 | c.215-11054C>T | - | IntronicSNV | - | 3/13 |
8-23538008-C-T | NKX3-1 | c.*726G>A | - | 3-UTRSNV | 3/3 | - |
5-56125904-T-C | MAP3K1 | c.482+14022T>C | - | IntronicSNV | - | 1/19 |
5-56125904-T-A | MAP3K1 | c.482+14022T>A | - | IntronicSNV | - | 1/19 |
17-48244531-C-T | SGCA | c.38-198C>T | - | IntronicSNV | - | 1/9 |
12-51190606-C-T | ATF1 | c.194+814C>T | - | IntronicSNV | - | 3/6 |
6-151940260-A-G | CCDC170 | c.*978A>G | - | 3-UTRSNV | 11/11 | - |
12-50946955-A-G | DIP2B | c.100+47932A>G | - | IntronicSNV | - | 1/37 |
19-38746567-C-G | PPP1R14A | c.201+212G>C | - | IntronicSNV | - | 1/3 |
6-160807432-C-A | SLC22A3 | c.430-11579C>A | - | IntronicSNV | - | 1/10 |
6-160840252-G-T | SLC22A3 | c.975+8374G>T | - | IntronicSNV | - | 5/10 |
6-160774486-C-A | SLC22A3 | c.429+4606C>A | - | IntronicSNV | - | 1/10 |
3-169545652-G-A | LRRIQ4 | c.1021-895G>A | - | IntronicSNV | - | 1/4 |
6-160774486-C-T | SLC22A3 | c.429+4606C>T | - | IntronicSNV | - | 1/10 |
15-48734624-G-T | FBN1 | c.6038-581C>A | - | IntronicSNV | - | 49/65 |
15-48702457-C-A | FBN1 | c.*730G>T | - | 3-UTRSNV | 66/66 | - |
13-95872515-A-T | ABCC4 | c.532-9480T>A | - | IntronicSNV | - | 4/30 |
6-51676999-C-A | PKHD1 | c.8302+18660G>T | - | IntronicSNV | - | 52/66 |
10-123733962-C-T | NSMCE4A | c.293-366G>A | - | IntronicSNV | - | 1/10 |
7-27992390-T-C | JAZF1 | c.188+39138A>G | - | IntronicSNV | - | 2/4 |
3-37955247-G-A | CTDSPL | c.80-33301G>A | - | IntronicSNV | - | 1/6 |
16-68727130-A-T | CDH3 | c.2002+1301A>T | - | IntronicSNV | - | 13/15 |
10-123592061-G-A | ATE1 | c.1257+4172C>T | - | IntronicSNV | - | 10/11 |
15-48864797-C-G | FBN1 | c.538+23683G>C | - | IntronicSNV | - | 6/65 |
7-97945115-C-T | BAIAP2L1 | c.487-191G>A | - | IntronicSNV | - | 6/13 |
21-31152048-G-A | GRIK1 | c.119-85666C>T | - | IntronicSNV | - | 1/16 |
21-31152048-G-C | GRIK1 | c.119-85666C>G | - | IntronicSNV | - | 1/16 |
7-98000929-C-T | BAIAP2L1 | c.52-9185G>A | - | IntronicSNV | - | 1/13 |
7-27962929-T-C | JAZF1 | c.189-27894A>G | - | IntronicSNV | - | 2/4 |
7-97762474-C-G | LMTK2 | c.104-4153C>G | - | IntronicSNV | - | 1/13 |
6-160863532-T-C | SLC22A3 | c.1289-261T>C | - | IntronicSNV | - | 7/10 |
17-48274309-T-A | COL1A1 | c.804+62A>T | - | IntronicSNV | - | 11/50 |
17-48274309-T-C | COL1A1 | c.804+62A>G | - | IntronicSNV | - | 11/50 |
22-40452119-T-C | TNRC6B | c.-121+11117T>C | - | intron_variant | - | 1/23 |
15-48852492-A-G | FBN1 | c.539-22487T>C | - | IntronicSNV | - | 6/65 |
15-48852492-A-T | FBN1 | c.539-22487T>A | - | IntronicSNV | - | 6/65 |
7-97762474-C-T | LMTK2 | c.104-4153C>T | - | IntronicSNV | - | 1/13 |
21-31189387-A-G | GRIK1 | c.118+122314T>C | - | IntronicSNV | - | 1/16 |
7-97784367-G-A | LMTK2 | c.569+179G>A | - | IntronicSNV | - | 5/13 |
15-48715600-T-A | FBN1 | c.7454-1335A>T | - | IntronicSNV | - | 60/65 |
15-48715600-T-C | FBN1 | c.7454-1335A>G | - | IntronicSNV | - | 60/65 |
7-97865458-T-A | TECPR1 | c.1181+630A>T | - | IntronicSNV | - | 10/25 |
7-97865458-T-C | TECPR1 | c.1181+630A>G | - | IntronicSNV | - | 10/25 |
10-126697086-G-A | CTBP2 | c.59-5025C>T | - | IntronicSNV | - | 3/10 |
4-106115450-G-T | TET2 | c.-47+3788G>T | - | intron_variant | - | 2/2 |
16-74485788-C-T | GLG1 | c.*166G>A | - | 3-UTRSNV | 27/27 | - |
7-97915902-C-T | BRI3 | c.245+4137C>T | - | IntronicSNV | - | 2/2 |
4-95509763-A-G | PDLIM5 | c.593+2168A>G | - | IntronicSNV | - | 7/12 |
15-48799381-T-A | FBN1 | c.1837+1398A>T | - | IntronicSNV | - | 15/65 |
10-123596823-T-G | ATE1 | c.1158-491A>C | - | IntronicSNV | - | 9/11 |
16-68817439-C-G | CDH1 | c.164-18134C>G | - | IntronicSNV | - | 2/15 |
4-106160365-A-C | TET2 | c.*1768A>C | - | 3-UTRSNV | 3/3 | - |
16-74490529-G-A | GLG1 | c.3372+18C>T | - | IntronicSNV | - | 25/26 |
16-68817439-C-T | CDH1 | c.164-18134C>T | - | IntronicSNV | - | 2/15 |
4-95587587-T-C | PDLIM5 | c.*2369T>C | - | 3-UTRSNV | 13/13 | - |
9-6535500-C-T | GLDC | c.2838+564G>A | - | IntronicSNV | - | 23/24 |
6-127645719-T-A | ECHDC1 | c.363+2428A>T | - | IntronicSNV | - | 3/5 |
11-111120698-C-T | C11orf53 | c.10+4110C>T | - | intron_variant | - | 1/4 |
11-111120698-C-G | C11orf53 | c.10+4110C>G | - | intron_variant | - | 1/4 |
7-97921533-A-T | BAIAP2L1 | c.*1300T>A | - | 3-UTRSNV | 14/14 | - |
15-48744005-T-C | FBN1 | c.5545+754A>G | - | IntronicSNV | - | 45/65 |
4-95586224-A-G | PDLIM5 | c.*1006A>G | - | 3-UTRSNV | 13/13 | - |
4-95586224-A-T | PDLIM5 | c.*1006A>T | - | 3-UTRSNV | 13/13 | - |
6-117244676-T-C | RFX6 | c.1555+289T>C | - | IntronicSNV | - | 14/18 |
13-95879441-A-C | ABCC4 | c.531+7423T>G | - | IntronicSNV | - | 4/30 |
6-151936214-C-G | CCDC170 | c.1711-364C>G | - | IntronicSNV | - | 9/10 |
3-128114587-T-C | EEFSEC | c.1601-12325T>C | - | IntronicSNV | - | 6/6 |
13-95879441-A-T | ABCC4 | c.531+7423T>A | - | IntronicSNV | - | 4/30 |
21-31179134-C-T | GRIK1 | c.119-112752G>A | - | IntronicSNV | - | 1/16 |
2-20985528-C-T | LDAH | c.298+4487G>A | - | IntronicSNV | - | 3/6 |
6-160872151-C-T | SLC22A3 | c.*63C>T | - | 3-UTRSNV | 11/11 | - |
7-97772658-C-T | LMTK2 | c.376+1805C>T | - | IntronicSNV | - | 3/13 |
3-127930866-C-A | EEFSEC | c.317-34813C>A | - | IntronicSNV | - | 1/6 |
4-95472630-C-T | PDLIM5 | c.249-21872C>T | - | IntronicSNV | - | 3/12 |
10-80846608-T-A | ZMIZ1 | c.-337+17581T>A | - | intron_variant | - | 1/24 |
10-123641704-G-A | ATE1 | c.943-12151C>T | - | IntronicSNV | - | 7/11 |
11-1888614-C-T | LSP1 | c.54-12703C>T | - | IntronicSNV | - | 1/10 |
10-123641704-G-C | ATE1 | c.943-12151C>G | - | IntronicSNV | - | 7/11 |
5-44814597-A-C | MRPS30 | c.1031-418A>C | - | IntronicSNV | - | 4/4 |
4-95580441-T-C | PDLIM5 | c.1258+1743T>C | - | IntronicSNV | - | 11/12 |
11-111125512-G-A | C11orf53 | c.11-1196G>A | - | intron_variant | - | 1/4 |
3-27471831-A-C | SLC4A7 | c.1123+958T>G | - | IntronicSNV | - | 7/24 |
7-97784061-T-C | LMTK2 | c.451-9T>C | - | IntronicSNV | - | 4/13 |
12-50764711-G-A | FAM186A | c.193-7564C>T | - | IntronicSNV | - | 1/7 |
11-111125512-G-T | C11orf53 | c.11-1196G>T | - | intron_variant | - | 1/4 |
10-80849336-A-G | ZMIZ1 | c.-337+20309A>G | - | intron_variant | - | 1/24 |
7-97741795-C-A | LMTK2 | c.103+5203C>A | - | IntronicSNV | - | 1/13 |
15-48736684-A-T | FBN1 | c.6037+54T>A | - | IntronicSNV | - | 49/65 |
3-127907929-A-G | EEFSEC | c.316+35263A>G | - | IntronicSNV | - | 1/6 |
6-51549912-G-A | PKHD1 | c.10157-25145C>T | - | IntronicSNV | - | 60/66 |
6-117218479-C-A | RFX6 | c.672+2109C>A | - | IntronicSNV | - | 6/18 |
2-20878153-T-C | GDF7 | c.*6968T>C | - | IntergenicSNV | 2/2 | - |
4-106128760-G-A | TET2 | c.-47+17098G>A | - | intron_variant | - | 2/2 |
6-127777039-T-A | SOGA3 | c.*202-1793A>T | - | intron_variant | - | 7/11 |
6-127777039-T-C | SOGA3 | c.*202-1793A>G | - | intron_variant | - | 7/11 |
12-50723993-A-G | FAM186A | c.7034+363T>C | - | IntronicSNV | - | 7/7 |
6-41558443-A-G | FOXP4 | c.1395+358A>G | - | IntronicSNV | - | 12/16 |
6-117249558-C-T | RFX6 | c.2399-364C>T | - | IntronicSNV | - | 17/18 |
3-87280088-C-T | CHMP2B | c.34+3382C>T | - | IntronicSNV | - | 1/5 |
3-127918955-C-T | EEFSEC | c.316+46289C>T | - | IntronicSNV | - | 1/6 |
19-38759180-T-C | SPINT2 | c.106+3542T>C | - | IntronicSNV | - | 1/5 |
3-37977417-G-C | CTDSPL | c.80-11131G>C | - | IntronicSNV | - | 1/6 |
3-37977417-G-T | CTDSPL | c.80-11131G>T | - | IntronicSNV | - | 1/6 |
15-48812020-A-G | FBN1 | c.1147+836T>C | - | IntronicSNV | - | 10/65 |
10-123643711-A-G | ATE1 | c.943-14158T>C | - | IntronicSNV | - | 7/11 |
7-97956180-G-A | BAIAP2L1 | c.215-6570C>T | - | IntronicSNV | - | 3/13 |
15-48812020-A-T | FBN1 | c.1147+836T>A | - | IntronicSNV | - | 10/65 |
6-160827670-C-T | SLC22A3 | c.534-403C>T | - | IntronicSNV | - | 2/10 |
4-95587675-T-C | PDLIM5 | c.*2457T>C | - | 3-UTRSNV | 13/13 | - |
3-169568116-G-C | LRRC31 | c.1159+1291C>G | - | IntronicSNV | - | 7/8 |
3-169568116-G-A | LRRC31 | c.1159+1291C>T | - | IntronicSNV | - | 7/8 |
15-48742841-T-G | FBN1 | c.5546-1751A>C | - | IntronicSNV | - | 45/65 |
6-127649350-C-T | ECHDC1 | c.221-1061G>A | - | IntronicSNV | - | 2/5 |
15-48742841-T-C | FBN1 | c.5546-1751A>G | - | IntronicSNV | - | 45/65 |
12-50641572-C-A | LIMA1 | c.119+844G>T | - | IntronicSNV | - | 2/10 |
5-56143419-T-C | MAP3K1 | c.483-9008T>C | - | IntronicSNV | - | 1/19 |
15-48763268-C-T | FBN1 | c.4337-315G>A | - | IntronicSNV | - | 35/65 |
19-17448660-T-C | GTPBP3 | c.54-157T>C | - | IntronicSNV | - | 1/8 |
15-48891965-C-T | FBN1 | c.442+371G>A | - | IntronicSNV | - | 5/65 |
4-95528867-T-A | PDLIM5 | c.594-10288T>A | - | IntronicSNV | - | 7/12 |
15-48821742-C-G | FBN1 | c.863-3290G>C | - | IntronicSNV | - | 8/65 |
10-126688200-C-T | CTBP2 | c.359-1461G>A | - | IntronicSNV | - | 5/10 |
16-68804342-T-C | CDH1 | c.164-31231T>C | - | IntronicSNV | - | 2/15 |
7-97952167-G-A | BAIAP2L1 | c.215-2557C>T | - | IntronicSNV | - | 3/13 |
15-48821742-C-T | FBN1 | c.863-3290G>A | - | IntronicSNV | - | 8/65 |
7-97952167-G-C | BAIAP2L1 | c.215-2557C>G | - | IntronicSNV | - | 3/13 |
6-160868668-A-G | SLC22A3 | c.1511-83A>G | - | IntronicSNV | - | 9/10 |
22-40454069-T-C | TNRC6B | c.-121+13067T>C | - | intron_variant | - | 1/23 |
16-68832750-A-G | CDH1 | c.164-2823A>G | - | IntronicSNV | - | 2/15 |
22-40454069-T-G | TNRC6B | c.-121+13067T>G | - | intron_variant | - | 1/23 |
6-41568906-G-A | FOXP4 | c.*2232G>A | - | 3-UTRSNV | 17/17 | - |
10-5904918-C-T | ANKRD16 | c.*34-264G>A | - | intron_variant | - | 7/7 |
4-95440721-C-T | PDLIM5 | c.97-4154C>T | - | IntronicSNV | - | 2/12 |
7-27977363-T-C | JAZF1 | c.189-42328A>G | - | IntronicSNV | - | 2/4 |
10-5904918-C-G | ANKRD16 | c.*34-264G>C | - | intron_variant | - | 7/7 |
20-60962624-T-C | RPS21 | c.51-43T>C | - | IntronicSNV | - | 2/5 |
15-48870456-C-T | FBN1 | c.538+18024G>A | - | IntronicSNV | - | 6/65 |
17-48269903-A-G | COL1A1 | c.1930-14T>C | - | IntronicSNV | - | 28/50 |
20-60937597-A-G | LAMA5 | c.309T>C | p.Cys103Cys | Synonymous | 2/80 | - |
6-127630963-A-T | ECHDC1 | c.497+4998T>A | - | IntronicSNV | - | 5/5 |
10-80846814-C-T | ZMIZ1 | c.-337+17787C>T | - | intron_variant | - | 1/24 |
12-50754563-T-G | FAM186A | c.559A>C | p.Lys187Gln | Missense | 3/8 | - |
10-5905231-T-C | ANKRD16 | c.*34-577A>G | - | intron_variant | - | 7/7 |
18-46454048-A-G | SMAD7 | c.743-5768T>C | - | IntronicSNV | - | 3/3 |
20-60927412-G-A | LAMA5 | c.573C>T | p.Ser191Ser | Synonymous | 4/80 | - |
12-51074199-T-C | DIP2B | c.1115-256T>C | - | IntronicSNV | - | 8/37 |
2-63059927-G-A | EHBP1 | c.634+1634G>A | - | IntronicSNV | - | 7/24 |
2-63059927-G-T | EHBP1 | c.634+1634G>T | - | IntronicSNV | - | 7/24 |
4-106075498-T-G | TET2 | c.-193+8255T>G | - | intron_variant | - | 1/2 |
10-123337117-C-T | FGFR2 | c.110-11899G>A | - | IntronicSNV | - | 2/17 |
3-27487705-C-T | SLC4A7 | c.262+2437G>A | - | IntronicSNV | - | 3/24 |
21-31149625-C-G | GRIK1 | c.119-83243G>C | - | IntronicSNV | - | 1/16 |
10-123733955-A-G | NSMCE4A | c.293-359T>C | - | IntronicSNV | - | 1/10 |
16-68814502-A-G | CDH1 | c.164-21071A>G | - | IntronicSNV | - | 2/15 |
3-128036786-C-T | EEFSEC | c.787-23290C>T | - | IntronicSNV | - | 4/6 |
21-31177511-A-G | GRIK1 | c.119-111129T>C | - | IntronicSNV | - | 1/16 |
7-97929738-A-G | BAIAP2L1 | c.1422+3770T>C | - | IntronicSNV | - | 12/13 |
15-48926002-G-A | FBN1 | c.164+10801C>T | - | IntronicSNV | - | 2/65 |
7-97929738-A-C | BAIAP2L1 | c.1422+3770T>G | - | IntronicSNV | - | 12/13 |
10-123340311-C-A | FGFR2 | c.109+12912G>T | - | IntronicSNV | - | 2/17 |
3-27416999-T-C | SLC4A7 | c.*1256A>G | - | 3-UTRSNV | 25/25 | - |
6-160848167-A-T | SLC22A3 | c.976-9645A>T | - | IntronicSNV | - | 5/10 |
6-160848167-A-C | SLC22A3 | c.976-9645A>C | - | IntronicSNV | - | 5/10 |
6-117247692-A-T | RFX6 | c.1886-498A>T | - | IntronicSNV | - | 16/18 |
6-117247692-A-G | RFX6 | c.1886-498A>G | - | IntronicSNV | - | 16/18 |
6-51638877-T-C | PKHD1 | c.8555-1290A>G | - | IntronicSNV | - | 54/66 |
7-97983774-C-T | BAIAP2L1 | c.214+580G>A | - | IntronicSNV | - | 3/13 |
16-52538040-T-C | TOX3 | c.88-35554A>G | - | IntronicSNV | - | 1/6 |
11-1945884-G-A | TNNT3 | c.50-445G>A | - | IntronicSNV | - | 4/15 |
3-127892037-T-C | EEFSEC | c.316+19371T>C | - | IntronicSNV | - | 1/6 |
6-151936677-G-A | CCDC170 | c.1810G>A | p.Val604Ile | Missense | 10/11 | - |
6-117217382-C-G | RFX6 | c.672+1012C>G | - | IntronicSNV | - | 6/18 |
16-68716179-T-C | CDH3 | c.997-26T>C | - | IntronicSNV | - | 8/15 |
10-123354726-T-G | FGFR2 | c.1-1395A>C | - | IntronicSNV | - | 1/17 |
16-68815000-C-T | CDH1 | c.164-20573C>T | - | IntronicSNV | - | 2/15 |
5-82973396-T-C | HAPLN1 | c.1-4054A>G | - | IntronicSNV | - | 1/4 |
16-68815000-C-G | CDH1 | c.164-20573C>G | - | IntronicSNV | - | 2/15 |
15-48913357-C-T | FBN1 | c.165-8068G>A | - | IntronicSNV | - | 2/65 |
6-127610021-G-A | ECHDC1 | c.*993C>T | - | 3-UTRSNV | 6/6 | - |
10-123650931-A-G | ATE1 | c.942+8450T>C | - | IntronicSNV | - | 7/11 |
13-95866067-A-G | ABCC4 | c.532-3032T>C | - | IntronicSNV | - | 4/30 |
4-95559083-G-A | PDLIM5 | c.782-2344G>A | - | IntronicSNV | - | 8/12 |
10-123649649-A-G | ATE1 | c.942+9732T>C | - | IntronicSNV | - | 7/11 |
16-68801077-A-T | CDH1 | c.163+28763A>T | - | IntronicSNV | - | 2/15 |
22-40472399-G-A | TNRC6B | c.-121+31397G>A | - | intron_variant | - | 1/23 |
16-68801077-A-C | CDH1 | c.163+28763A>C | - | IntronicSNV | - | 2/15 |
3-127888067-G-A | EEFSEC | c.316+15401G>A | - | IntronicSNV | - | 1/6 |
16-68818245-T-G | CDH1 | c.164-17328T>G | - | IntronicSNV | - | 2/15 |
14-54418411-G-T | BMP4 | c.370+160C>A | - | IntronicSNV | - | 3/3 |
7-97826232-G-A | LMTK2 | c.4107+2348G>A | - | IntronicSNV | - | 11/13 |
14-54418411-G-A | BMP4 | c.370+160C>T | - | IntronicSNV | - | 3/3 |
6-160842537-T-C | SLC22A3 | c.975+10659T>C | - | IntronicSNV | - | 5/10 |
2-20887369-C-A | LDAH | c.787-515G>T | - | IntronicSNV | - | 6/6 |
4-95579800-G-A | PDLIM5 | c.1258+1102G>A | - | IntronicSNV | - | 11/12 |
4-95458942-G-T | PDLIM5 | c.248+13916G>T | - | IntronicSNV | - | 3/12 |
6-127655614-G-C | ECHDC1 | c.1-3441C>G | - | IntronicSNV | - | 1/5 |
11-1912726-A-G | LSP1 | c.*14-277A>G | - | intron_variant | - | 10/10 |
3-27432206-T-C | SLC4A7 | c.3160-611A>G | - | IntronicSNV | - | 21/24 |
6-117248218-T-C | RFX6 | c.1914T>C | p.Gly638Gly | Synonymous | 17/19 | - |
3-127991149-C-G | EEFSEC | c.786+7525C>G | - | IntronicSNV | - | 4/6 |
4-106151843-T-C | TET2 | c.1-3257T>C | - | IntronicSNV | - | 2/2 |
10-123640521-T-C | ATE1 | c.943-10968A>G | - | IntronicSNV | - | 7/11 |
6-151939848-C-T | CCDC170 | c.*566C>T | - | 3-UTRSNV | 11/11 | - |
4-106140501-G-T | TET2 | c.1-14599G>T | - | IntronicSNV | - | 2/2 |
16-68706933-A-G | CDH3 | c.161-3355A>G | - | IntronicSNV | - | 2/15 |
3-127948060-A-G | EEFSEC | c.317-17619A>G | - | IntronicSNV | - | 1/6 |
3-169553498-G-T | LRRIQ4 | c.1531-1769G>T | - | IntronicSNV | - | 4/4 |
5-10460981-G-C | ROPN1L | c.418-315G>C | - | IntronicSNV | - | 3/4 |
16-68800452-T-C | CDH1 | c.163+28138T>C | - | IntronicSNV | - | 2/15 |
13-95875614-T-A | ABCC4 | c.531+11250A>T | - | IntronicSNV | - | 4/30 |
13-95875614-T-C | ABCC4 | c.531+11250A>G | - | IntronicSNV | - | 4/30 |
16-68710737-T-C | CDH3 | c.246+364T>C | - | IntronicSNV | - | 3/15 |
16-68710737-T-G | CDH3 | c.246+364T>G | - | IntronicSNV | - | 3/15 |
15-48864001-T-C | FBN1 | c.538+24479A>G | - | IntronicSNV | - | 6/65 |
5-10453701-A-C | ROPN1L | c.417+3476A>C | - | IntronicSNV | - | 3/4 |
5-10463797-A-G | ROPN1L | c.594-1163A>G | - | IntronicSNV | - | 4/4 |
10-123644345-G-A | ATE1 | c.943-14792C>T | - | IntronicSNV | - | 7/11 |
20-60920700-T-C | LAMA5 | c.1477+174A>G | - | IntronicSNV | - | 11/79 |
12-50746917-A-G | FAM186A | c.3698T>C | p.Leu1233Pro | Missense | 4/8 | - |
15-48910591-A-G | FBN1 | c.165-5302T>C | - | IntronicSNV | - | 2/65 |
15-48714838-T-G | FBN1 | c.7454-573A>C | - | IntronicSNV | - | 60/65 |
4-106152984-T-C | TET2 | c.1-2116T>C | - | IntronicSNV | - | 2/2 |
7-97859060-C-G | TECPR1 | c.2283-582G>C | - | IntronicSNV | - | 15/25 |
4-106144735-A-C | TET2 | c.1-10365A>C | - | IntronicSNV | - | 2/2 |
15-48798708-C-T | FBN1 | c.1838-1364G>A | - | IntronicSNV | - | 15/65 |
3-127942379-A-G | EEFSEC | c.317-23300A>G | - | IntronicSNV | - | 1/6 |
15-48896086-T-A | FBN1 | c.347-3655A>T | - | IntronicSNV | - | 4/65 |
6-51666631-T-C | PKHD1 | c.8303-10460A>G | - | IntronicSNV | - | 52/66 |
10-126695847-G-A | CTBP2 | c.59-3786C>T | - | IntronicSNV | - | 3/10 |
7-97922851-C-A | BAIAP2L1 | c.1518G>T | p.Ser506Ser | Synonymous | 14/14 | - |
3-128064118-A-C | EEFSEC | c.1443+3386A>C | - | IntronicSNV | - | 5/6 |
6-160776325-A-G | SLC22A3 | c.429+6445A>G | - | IntronicSNV | - | 1/10 |
21-31129999-C-T | GRIK1 | c.119-63617G>A | - | IntronicSNV | - | 1/16 |
12-51128832-A-G | DIP2B | c.4044-24A>G | - | IntronicSNV | - | 33/37 |
10-5916771-C-T | ANKRD16 | c.*3322G>A | - | IntronicSNV | - | 7/7 |
6-127634244-G-T | ECHDC1 | c.497+1717C>A | - | IntronicSNV | - | 5/5 |
3-169568492-A-T | LRRC31 | c.1159+915T>A | - | IntronicSNV | - | 7/8 |
6-160791370-C-G | SLC22A3 | c.429+21490C>G | - | IntronicSNV | - | 1/10 |
6-160791370-C-A | SLC22A3 | c.429+21490C>A | - | IntronicSNV | - | 1/10 |
10-123645887-C-T | ATE1 | c.942+13494G>A | - | IntronicSNV | - | 7/11 |
3-37966079-G-A | CTDSPL | c.80-22469G>A | - | IntronicSNV | - | 1/6 |
6-160872652-G-A | SLC22A3 | c.*564G>A | - | 3-UTRSNV | 11/11 | - |
4-95582359-C-T | PDLIM5 | c.1259-1214C>T | - | IntronicSNV | - | 11/12 |
15-48779402-C-T | FBN1 | c.3464-5G>A | - | IntronicSNV | - | 28/65 |
3-37972794-T-A | CTDSPL | c.80-15754T>A | - | IntronicSNV | - | 1/6 |
6-41568064-G-A | FOXP4 | c.*1390G>A | - | 3-UTRSNV | 17/17 | - |
3-128092102-A-G | EEFSEC | c.1600+14886A>G | - | IntronicSNV | - | 6/6 |
5-56206073-G-T | SETD9 | c.98+503G>T | - | IntronicSNV | - | 1/5 |
6-41515224-G-C | FOXP4 | c.-17+619G>C | - | intron_variant | - | 1/16 |
6-41515224-G-A | FOXP4 | c.-17+619G>A | - | intron_variant | - | 1/16 |
16-68830511-A-T | CDH1 | c.164-5062A>T | - | IntronicSNV | - | 2/15 |
16-68830511-A-G | CDH1 | c.164-5062A>G | - | IntronicSNV | - | 2/15 |
16-68829021-C-T | CDH1 | c.164-6552C>T | - | IntronicSNV | - | 2/15 |
20-60913495-T-C | LAMA5 | c.1618+29A>G | - | IntronicSNV | - | 12/79 |
8-23538533-A-G | NKX3-1 | c.*201T>C | - | 3-UTRSNV | 3/3 | - |
8-23538533-A-T | NKX3-1 | c.*201T>A | - | 3-UTRSNV | 3/3 | - |
3-128038834-C-T | EEFSEC | c.787-21242C>T | - | IntronicSNV | - | 4/6 |
5-10464107-C-T | ROPN1L | c.594-853C>T | - | IntronicSNV | - | 4/4 |
13-95858058-A-C | ABCC4 | c.1161+728T>G | - | IntronicSNV | - | 8/30 |
10-123600590-A-G | ATE1 | c.1157+7T>C | - | IntronicSNV | - | 9/11 |
22-40464936-A-G | TNRC6B | c.-121+23934A>G | - | intron_variant | - | 1/23 |
12-51086275-G-A | DIP2B | c.1655-457G>A | - | IntronicSNV | - | 13/37 |
15-48816080-G-A | FBN1 | c.988+2247C>T | - | IntronicSNV | - | 9/65 |
7-97925534-T-C | BAIAP2L1 | c.1423-2111A>G | - | IntronicSNV | - | 12/13 |
3-127991149-C-A | EEFSEC | c.786+7525C>A | - | IntronicSNV | - | 4/6 |
11-111154072-A-C | C11orf53 | c.164-729A>C | - | intron_variant | - | 3/4 |
3-127920023-T-C | EEFSEC | c.317-45656T>C | - | IntronicSNV | - | 1/6 |
10-123649464-C-T | ATE1 | c.942+9917G>A | - | IntronicSNV | - | 7/11 |
4-95441592-C-G | PDLIM5 | c.97-3283C>G | - | IntronicSNV | - | 2/12 |
10-123648057-G-C | ATE1 | c.942+11324C>G | - | IntronicSNV | - | 7/11 |
11-111133005-C-T | C11orf53 | c.120+6188C>T | - | intron_variant | - | 2/4 |
15-48819502-G-A | FBN1 | c.863-1050C>T | - | IntronicSNV | - | 8/65 |
6-41557117-A-C | FOXP4 | c.1063-392A>C | - | IntronicSNV | - | 9/16 |
16-68837496-A-G | CDH1 | c.387+1700A>G | - | IntronicSNV | - | 3/15 |
2-63213970-T-C | EHBP1 | c.2714-1096T>C | - | IntronicSNV | - | 16/24 |
5-56190986-A-G | MAP3K1 | c.*1479A>G | - | 3-UTRSNV | 20/20 | - |
6-151939627-G-A | CCDC170 | c.*345G>A | - | 3-UTRSNV | 11/11 | - |
16-68814590-T-C | CDH1 | c.164-20983T>C | - | IntronicSNV | - | 2/15 |
10-80852602-G-A | ZMIZ1 | c.-337+23575G>A | - | intron_variant | - | 1/24 |
16-68814948-T-A | CDH1 | c.164-20625T>A | - | IntronicSNV | - | 2/15 |
7-28028432-A-G | JAZF1 | c.188+3096T>C | - | IntronicSNV | - | 2/4 |
6-117252759-T-G | RFX6 | c.*90T>G | - | 3-UTRSNV | 19/19 | - |
13-95889241-C-T | ABCC4 | c.307-2153G>A | - | IntronicSNV | - | 3/30 |
13-95889241-C-A | ABCC4 | c.307-2153G>T | - | IntronicSNV | - | 3/30 |
6-160771363-C-T | SLC22A3 | c.429+1483C>T | - | IntronicSNV | - | 1/10 |
6-160771363-C-G | SLC22A3 | c.429+1483C>G | - | IntronicSNV | - | 1/10 |
6-160771363-C-A | SLC22A3 | c.429+1483C>A | - | IntronicSNV | - | 1/10 |
7-97817321-A-G | LMTK2 | c.998+1011A>G | - | IntronicSNV | - | 9/13 |
16-52555002-G-A | TOX3 | c.87+25547C>T | - | IntronicSNV | - | 1/6 |
16-52555002-G-C | TOX3 | c.87+25547C>G | - | IntronicSNV | - | 1/6 |
4-95453777-T-G | PDLIM5 | c.248+8751T>G | - | IntronicSNV | - | 3/12 |
5-83007311-C-T | HAPLN1 | c.-27+9297G>A | - | intron_variant | - | 1/4 |
18-46453929-C-T | SMAD7 | c.743-5649G>A | - | IntronicSNV | - | 3/3 |
5-56235548-C-T | MIER3 | c.181-704G>A | - | IntronicSNV | - | 3/12 |
4-95503578-T-C | PDLIM5 | c.384-3138T>C | - | IntronicSNV | - | 5/12 |
16-52539597-A-G | TOX3 | c.88-37111T>C | - | IntronicSNV | - | 1/6 |
9-6237547-A-G | IL33 | c.1-4148A>G | - | IntronicSNV | - | 1/7 |
2-43501802-G-A | THADA | c.5296+5102C>T | - | IntronicSNV | - | 36/37 |
6-160810720-C-T | SLC22A3 | c.430-8291C>T | - | IntronicSNV | - | 1/10 |
10-123725466-G-T | NSMCE4A | c.654-566C>A | - | IntronicSNV | - | 4/10 |
15-48806953-T-C | FBN1 | c.1468+631A>G | - | IntronicSNV | - | 12/65 |
17-36102035-G-T | HNF1B | c.345-2405C>A | - | IntronicSNV | - | 1/8 |
17-36102035-G-C | HNF1B | c.345-2405C>G | - | IntronicSNV | - | 1/8 |
17-36096515-T-C | HNF1B | c.545-2701A>G | - | IntronicSNV | - | 2/8 |
17-36096515-T-G | HNF1B | c.545-2701A>C | - | IntronicSNV | - | 2/8 |
12-50940983-T-G | DIP2B | c.100+41960T>G | - | IntronicSNV | - | 1/37 |
5-10459751-G-T | ROPN1L | c.418-1545G>T | - | IntronicSNV | - | 3/4 |
3-27427225-A-G | SLC4A7 | c.3465+158T>C | - | IntronicSNV | - | 23/24 |
21-31185292-A-G | GRIK1 | c.119-118910T>C | - | IntronicSNV | - | 1/16 |
22-40455378-T-A | TNRC6B | c.-121+14376T>A | - | intron_variant | - | 1/23 |
16-68713730-G-A | CDH3 | c.720G>A | p.Thr240Thr | Synonymous | 7/16 | - |
15-48753624-C-T | FBN1 | c.5225-1110G>A | - | IntronicSNV | - | 42/65 |
13-95861981-C-G | ABCC4 | c.622-130G>C | - | IntronicSNV | - | 5/30 |
16-68818390-C-T | CDH1 | c.164-17183C>T | - | IntronicSNV | - | 2/15 |
16-68727130-A-C | CDH3 | c.2002+1301A>C | - | IntronicSNV | - | 13/15 |
12-50763415-G-T | FAM186A | c.193-6268C>A | - | IntronicSNV | - | 1/7 |
10-123658595-C-T | ATE1 | c.942+786G>A | - | IntronicSNV | - | 7/11 |
6-41538545-T-C | FOXP4 | c.204+4843T>C | - | IntronicSNV | - | 2/16 |
12-50757628-G-A | FAM186A | c.193-481C>T | - | IntronicSNV | - | 1/7 |
15-48843598-C-T | FBN1 | c.539-13593G>A | - | IntronicSNV | - | 6/65 |
3-87279318-C-A | CHMP2B | c.34+2612C>A | - | IntronicSNV | - | 1/5 |
3-87279318-C-G | CHMP2B | c.34+2612C>G | - | IntronicSNV | - | 1/5 |
7-97853795-G-T | TECPR1 | c.2690+318C>A | - | IntronicSNV | - | 19/25 |
6-117252247-C-T | RFX6 | c.2612-247C>T | - | IntronicSNV | - | 18/18 |
5-10448978-C-A | ROPN1L | c.255+483C>A | - | IntronicSNV | - | 2/4 |
12-50763415-G-A | FAM186A | c.193-6268C>T | - | IntronicSNV | - | 1/7 |
16-68778457-C-T | CDH1 | c.163+6143C>T | - | IntronicSNV | - | 2/15 |
10-123716888-T-G | NSMCE4A | c.*13-114A>C | - | intron_variant | - | 10/10 |
12-51202862-A-G | ATF1 | c.195-377A>G | - | IntronicSNV | - | 3/6 |
15-48864797-C-T | FBN1 | c.538+23683G>A | - | IntronicSNV | - | 6/65 |
10-80842827-C-A | ZMIZ1 | c.-337+13800C>A | - | intron_variant | - | 1/24 |
16-68802936-C-T | CDH1 | c.163+30622C>T | - | IntronicSNV | - | 2/15 |
15-48754122-G-C | FBN1 | c.5224+1157C>G | - | IntronicSNV | - | 42/65 |
13-95866778-A-C | ABCC4 | c.532-3743T>G | - | IntronicSNV | - | 4/30 |
19-52380681-T-A | ZNF577 | c.188-51A>T | - | IntronicSNV | - | 5/6 |
6-127655485-C-T | ECHDC1 | c.1-3312G>A | - | IntronicSNV | - | 1/5 |
15-48795877-G-A | FBN1 | c.2113+107C>T | - | IntronicSNV | - | 17/65 |
3-169558373-G-C | LRRC31 | c.1328-272C>G | - | IntronicSNV | - | 8/8 |
17-48274291-T-G | COL1A1 | c.804+80A>C | - | IntronicSNV | - | 11/50 |
3-169558373-G-A | LRRC31 | c.1328-272C>T | - | IntronicSNV | - | 8/8 |
7-97807882-C-T | LMTK2 | c.792-6481C>T | - | IntronicSNV | - | 7/13 |
7-97807882-C-A | LMTK2 | c.792-6481C>A | - | IntronicSNV | - | 7/13 |
6-51650799-A-G | PKHD1 | c.8440+5235T>C | - | IntronicSNV | - | 53/66 |
16-68822599-G-A | CDH1 | c.164-12974G>A | - | IntronicSNV | - | 2/15 |
7-97792576-G-A | LMTK2 | c.657+3839G>A | - | IntronicSNV | - | 6/13 |
16-52566454-T-G | TOX3 | c.87+14095A>C | - | IntronicSNV | - | 1/6 |
3-169566247-T-C | LRRC31 | c.1160-172A>G | - | IntronicSNV | - | 7/8 |
12-50964106-C-T | DIP2B | c.101-55653C>T | - | IntronicSNV | - | 1/37 |
19-17371568-T-C | USHBP1 | c.643-737A>G | - | IntronicSNV | - | 4/12 |
6-127636733-A-G | ECHDC1 | c.417-692T>C | - | IntronicSNV | - | 4/5 |
10-80846608-T-C | ZMIZ1 | c.-337+17581T>C | - | intron_variant | - | 1/24 |
16-52566454-T-A | TOX3 | c.87+14095A>T | - | IntronicSNV | - | 1/6 |
12-51064064-A-G | DIP2B | c.428-905A>G | - | IntronicSNV | - | 4/37 |
7-27975745-C-T | JAZF1 | c.189-40710G>A | - | IntronicSNV | - | 2/4 |
4-95554249-A-T | PDLIM5 | c.782-7178A>T | - | IntronicSNV | - | 8/12 |
12-50646754-G-A | LIMA1 | c.1-4220C>T | - | IntronicSNV | - | 1/10 |
4-95445791-G-A | PDLIM5 | c.248+765G>A | - | IntronicSNV | - | 3/12 |
3-27492150-G-A | SLC4A7 | c.115+1758C>T | - | IntronicSNV | - | 2/24 |
13-95862896-A-C | ABCC4 | c.621+50T>G | - | IntronicSNV | - | 5/30 |
7-97944986-G-A | BAIAP2L1 | c.487-62C>T | - | IntronicSNV | - | 6/13 |
13-95862896-A-G | ABCC4 | c.621+50T>C | - | IntronicSNV | - | 5/30 |
15-48755168-T-C | FBN1 | c.5224+111A>G | - | IntronicSNV | - | 42/65 |
7-97857675-T-C | TECPR1 | c.2411-247A>G | - | IntronicSNV | - | 16/25 |
6-51540062-T-G | PKHD1 | c.10157-15295A>C | - | IntronicSNV | - | 60/66 |
6-51540062-T-A | PKHD1 | c.10157-15295A>T | - | IntronicSNV | - | 60/66 |
4-95562682-C-T | PDLIM5 | c.956+1081C>T | - | IntronicSNV | - | 9/12 |
22-40505863-T-A | TNRC6B | c.-120-7196T>A | - | intron_variant | - | 1/23 |
4-95562682-C-A | PDLIM5 | c.956+1081C>A | - | IntronicSNV | - | 9/12 |
22-40464204-T-C | TNRC6B | c.-121+23202T>C | - | intron_variant | - | 1/23 |
6-51689516-C-T | PKHD1 | c.8302+6143G>A | - | IntronicSNV | - | 52/66 |
21-31181420-A-G | GRIK1 | c.119-115038T>C | - | IntronicSNV | - | 1/16 |
15-48931451-T-A | FBN1 | c.164+5352A>T | - | IntronicSNV | - | 2/65 |
5-82985739-T-G | HAPLN1 | c.1-16397A>C | - | IntronicSNV | - | 1/4 |
10-80842416-T-C | ZMIZ1 | c.-337+13389T>C | - | intron_variant | - | 1/24 |
5-82986149-T-C | HAPLN1 | c.1-16807A>G | - | IntronicSNV | - | 1/4 |
3-169528523-G-T | LRRC34 | c.139+1675C>A | - | IntronicSNV | - | 1/9 |
3-37969439-T-C | CTDSPL | c.80-19109T>C | - | IntronicSNV | - | 1/6 |
7-97786282-G-A | LMTK2 | c.569+2094G>A | - | IntronicSNV | - | 5/13 |
15-48845722-G-A | FBN1 | c.539-15717C>T | - | IntronicSNV | - | 6/65 |
15-48828396-A-G | FBN1 | c.736+1412T>C | - | IntronicSNV | - | 7/65 |
6-127663116-C-T | ECHDC1 | c.-3+1365G>A | - | intron_variant | - | 1/5 |
6-117247715-C-T | RFX6 | c.1886-475C>T | - | IntronicSNV | - | 16/18 |
4-95441310-G-A | PDLIM5 | c.97-3565G>A | - | IntronicSNV | - | 2/12 |
3-37965193-A-G | CTDSPL | c.80-23355A>G | - | IntronicSNV | - | 1/6 |
10-80852602-G-C | ZMIZ1 | c.-337+23575G>C | - | intron_variant | - | 1/24 |
15-48740097-C-T | FBN1 | c.5671+868G>A | - | IntronicSNV | - | 46/65 |
10-126696496-T-C | CTBP2 | c.59-4435A>G | - | IntronicSNV | - | 3/10 |
5-56172778-G-A | MAP3K1 | c.1965+1641G>A | - | IntronicSNV | - | 10/19 |
5-56177443-G-A | MAP3K1 | c.2416G>A | p.Asp806Asn | Missense | 14/20 | - |
7-97992095-C-T | BAIAP2L1 | c.52-351G>A | - | IntronicSNV | - | 1/13 |
7-97992095-C-G | BAIAP2L1 | c.52-351G>C | - | IntronicSNV | - | 1/13 |
6-151924607-T-A | CCDC170 | c.1710+6895T>A | - | IntronicSNV | - | 9/10 |
22-40504116-C-T | TNRC6B | c.1-17706C>T | - | IntronicSNV | - | 1/23 |
4-95452228-A-G | PDLIM5 | c.248+7202A>G | - | IntronicSNV | - | 3/12 |
4-95588274-G-A | PDLIM5 | c.*3056G>A | - | 3-UTRSNV | 13/13 | - |
6-117239086-A-G | RFX6 | c.973-114A>G | - | IntronicSNV | - | 9/18 |
7-27958773-T-G | JAZF1 | c.189-23738A>C | - | IntronicSNV | - | 2/4 |
3-27445430-G-A | SLC4A7 | c.2049-555C>T | - | IntronicSNV | - | 14/24 |
4-95452228-A-T | PDLIM5 | c.248+7202A>T | - | IntronicSNV | - | 3/12 |
12-50665227-T-C | LIMA1 | c.-24+11976A>G | - | intron_variant | - | 1/10 |
6-117251887-A-G | RFX6 | c.2612-607A>G | - | IntronicSNV | - | 18/18 |
15-48732692-A-G | FBN1 | c.6163+1226T>C | - | IntronicSNV | - | 50/65 |
10-126650696-A-G | ZRANB1 | c.815-4467A>G | - | IntronicSNV | - | 1/8 |
3-169565571-T-C | LRRC31 | c.1327+337A>G | - | IntronicSNV | - | 8/8 |
20-60899206-C-T | LAMA5 | c.5698G>A | p.Val1900Met | Missense | 43/80 | - |
5-82985576-T-G | HAPLN1 | c.1-16234A>C | - | IntronicSNV | - | 1/4 |
12-50744171-T-G | FAM186A | c.6444A>C | p.Thr2148Thr | Synonymous | 4/8 | - |
12-50744171-T-C | FAM186A | c.6444A>G | p.Thr2148Thr | Synonymous | 4/8 | - |
20-60899206-C-G | LAMA5 | c.5698G>C | p.Val1900Leu | Missense | 43/80 | - |
4-95574211-C-T | PDLIM5 | c.957-1400C>T | - | IntronicSNV | - | 9/12 |
21-31166664-T-A | GRIK1 | c.119-100282A>T | - | IntronicSNV | - | 1/16 |
4-95465526-G-A | PDLIM5 | c.248+20500G>A | - | IntronicSNV | - | 3/12 |
2-20977533-T-A | LDAH | c.299-2794A>T | - | IntronicSNV | - | 3/6 |
2-20977533-T-C | LDAH | c.299-2794A>G | - | IntronicSNV | - | 3/6 |
3-127934329-T-G | EEFSEC | c.317-31350T>G | - | IntronicSNV | - | 1/6 |
6-127664661-G-A | ECHDC1 | c.-183C>T | - | 5_prime_UTR_variant | 1/6 | - |
3-127934329-T-C | EEFSEC | c.317-31350T>C | - | IntronicSNV | - | 1/6 |
10-126697210-T-C | CTBP2 | c.59-5149A>G | - | IntronicSNV | - | 3/10 |
22-40472399-G-T | TNRC6B | c.-121+31397G>T | - | intron_variant | - | 1/23 |
3-37960045-A-G | CTDSPL | c.80-28503A>G | - | IntronicSNV | - | 1/6 |
16-68728976-C-A | CDH3 | c.2003-182C>A | - | IntronicSNV | - | 13/15 |
4-95484001-G-C | PDLIM5 | c.249-10501G>C | - | IntronicSNV | - | 3/12 |
18-46448805-T-C | SMAD7 | c.743-525A>G | - | IntronicSNV | - | 3/3 |
3-169558711-T-A | LRRC31 | c.1328-610A>T | - | IntronicSNV | - | 8/8 |
3-27444524-G-C | SLC4A7 | c.2294+106C>G | - | IntronicSNV | - | 15/24 |
16-68821126-C-T | CDH1 | c.164-14447C>T | - | IntronicSNV | - | 2/15 |
6-127646649-G-C | ECHDC1 | c.363+1498C>G | - | IntronicSNV | - | 3/5 |
13-95863505-A-G | ABCC4 | c.532-470T>C | - | IntronicSNV | - | 4/30 |
15-48713996-G-C | FBN1 | c.7571-113C>G | - | IntronicSNV | - | 61/65 |
4-95573998-T-C | PDLIM5 | c.957-1613T>C | - | IntronicSNV | - | 9/12 |
12-51089734-T-C | DIP2B | c.1917T>C | p.Thr639Thr | Synonymous | 16/38 | - |
11-1891284-T-A | LSP1 | c.54-10033T>A | - | IntronicSNV | - | 1/10 |
16-54032493-A-G | FTO | c.1364+64472A>G | - | IntronicSNV | - | 8/8 |
5-83007333-G-A | HAPLN1 | c.-27+9275C>T | - | intron_variant | - | 1/4 |
5-83007333-G-C | HAPLN1 | c.-27+9275C>G | - | intron_variant | - | 1/4 |
3-128038689-C-A | EEFSEC | c.787-21387C>A | - | IntronicSNV | - | 4/6 |
16-68818903-T-A | CDH1 | c.164-16670T>A | - | IntronicSNV | - | 2/15 |
15-48720271-C-T | FBN1 | c.6997+272G>A | - | IntronicSNV | - | 57/65 |
3-169524862-A-C | LRRC34 | c.445-143T>G | - | IntronicSNV | - | 4/9 |
20-60912117-C-T | LAMA5 | c.2165-275G>A | - | IntronicSNV | - | 16/79 |
10-123662780-C-T | ATE1 | c.584-645G>A | - | IntronicSNV | - | 5/11 |
16-52571436-A-C | TOX3 | c.87+9113T>G | - | IntronicSNV | - | 1/6 |
5-44814004-G-A | MRPS30 | c.1030+620G>A | - | IntronicSNV | - | 4/4 |
4-95453735-C-T | PDLIM5 | c.248+8709C>T | - | IntronicSNV | - | 3/12 |
13-95878407-T-C | ABCC4 | c.531+8457A>G | - | IntronicSNV | - | 4/30 |
3-169554129-G-A | LRRIQ4 | c.1531-1138G>A | - | IntronicSNV | - | 4/4 |
6-117217382-C-T | RFX6 | c.672+1012C>T | - | IntronicSNV | - | 6/18 |
21-31189792-T-C | GRIK1 | c.118+121909A>G | - | IntronicSNV | - | 1/16 |
7-28028227-G-A | JAZF1 | c.188+3301C>T | - | IntronicSNV | - | 2/4 |
4-95444407-G-T | PDLIM5 | c.97-468G>T | - | IntronicSNV | - | 2/12 |
10-123674629-C-T | ATE1 | c.234-1221G>A | - | IntronicSNV | - | 3/11 |
16-52536885-C-T | TOX3 | c.88-34399G>A | - | IntronicSNV | - | 1/6 |
3-127938137-G-A | EEFSEC | c.317-27542G>A | - | IntronicSNV | - | 1/6 |
10-80851257-G-T | ZMIZ1 | c.-337+22230G>T | - | intron_variant | - | 1/24 |
15-48783269-G-C | FBN1 | c.2855-994C>G | - | IntronicSNV | - | 24/65 |
19-17423373-G-T | DDA1 | c.4-1459G>T | - | IntronicSNV | - | 1/4 |
15-48783269-G-A | FBN1 | c.2855-994C>T | - | IntronicSNV | - | 24/65 |
17-48261852-A-G | COL1A1 | c.*1011T>C | - | 3-UTRSNV | 51/51 | - |
6-117239141-T-C | RFX6 | c.973-59T>C | - | IntronicSNV | - | 9/18 |
15-48805096-C-T | FBN1 | c.1588+650G>A | - | IntronicSNV | - | 13/65 |
11-1912296-A-G | LSP1 | c.*14-707A>G | - | intron_variant | - | 10/10 |
4-95577290-T-C | PDLIM5 | c.1138-1288T>C | - | IntronicSNV | - | 10/12 |
3-169518455-T-G | LRRC34 | c.657+3386A>C | - | IntronicSNV | - | 6/9 |
3-127961396-A-T | EEFSEC | c.317-4283A>T | - | IntronicSNV | - | 1/6 |
19-52381616-G-T | ZNF577 | c.187+26C>A | - | IntronicSNV | - | 5/6 |
15-48782563-T-C | FBN1 | c.2855-288A>G | - | IntronicSNV | - | 24/65 |
7-97774859-A-G | LMTK2 | c.376+4006A>G | - | IntronicSNV | - | 3/13 |
2-43555506-T-C | THADA | c.4344-7827A>G | - | IntronicSNV | - | 30/37 |
4-95457089-G-A | PDLIM5 | c.248+12063G>A | - | IntronicSNV | - | 3/12 |
19-52381616-G-A | ZNF577 | c.187+26C>T | - | IntronicSNV | - | 5/6 |
4-106123582-G-C | TET2 | c.-47+11920G>C | - | intron_variant | - | 2/2 |
16-68728938-C-T | CDH3 | c.2003-220C>T | - | IntronicSNV | - | 13/15 |
3-37949176-A-T | CTDSPL | c.80-39372A>T | - | IntronicSNV | - | 1/6 |
3-37949176-A-C | CTDSPL | c.80-39372A>C | - | IntronicSNV | - | 1/6 |
12-51197717-C-T | ATF1 | c.195-5522C>T | - | IntronicSNV | - | 3/6 |
16-68804068-G-A | CDH1 | c.164-31505G>A | - | IntronicSNV | - | 2/15 |
17-48273155-A-C | COL1A1 | c.1056+129T>G | - | IntronicSNV | - | 16/50 |
4-95528867-T-C | PDLIM5 | c.594-10288T>C | - | IntronicSNV | - | 7/12 |
7-97912241-C-T | BRI3 | c.245+476C>T | - | IntronicSNV | - | 2/2 |
21-31179134-C-A | GRIK1 | c.119-112752G>T | - | IntronicSNV | - | 1/16 |
15-48803839-T-C | FBN1 | c.1589-1473A>G | - | IntronicSNV | - | 13/65 |
7-97944744-G-A | BAIAP2L1 | c.639+28C>T | - | IntronicSNV | - | 7/13 |
16-68809640-T-A | CDH1 | c.164-25933T>A | - | IntronicSNV | - | 2/15 |
4-95437443-A-T | PDLIM5 | c.97-7432A>T | - | IntronicSNV | - | 2/12 |
5-56151744-G-A | MAP3K1 | c.483-683G>A | - | IntronicSNV | - | 1/19 |
6-117251495-A-G | RFX6 | c.2612-999A>G | - | IntronicSNV | - | 18/18 |
5-56220382-T-C | MIER3 | c.922-513A>G | - | IntronicSNV | - | 10/12 |
4-95438714-C-T | PDLIM5 | c.97-6161C>T | - | IntronicSNV | - | 2/12 |
4-95419519-G-A | PDLIM5 | c.97-25356G>A | - | IntronicSNV | - | 2/12 |
22-40482752-G-A | TNRC6B | c.-120-30307G>A | - | intron_variant | - | 1/23 |
4-95437443-A-G | PDLIM5 | c.97-7432A>G | - | IntronicSNV | - | 2/12 |
7-27983781-C-G | JAZF1 | c.188+47747G>C | - | IntronicSNV | - | 2/4 |
11-1943120-G-A | TNNT3 | c.1-985G>A | - | IntronicSNV | - | 1/15 |
7-28005988-C-T | JAZF1 | c.188+25540G>A | - | IntronicSNV | - | 2/4 |
4-95511681-T-C | PDLIM5 | c.593+4086T>C | - | IntronicSNV | - | 7/12 |
6-127605898-C-T | RNF146 | c.-129-1297C>T | - | intron_variant | - | 3/4 |
16-52577835-T-A | TOX3 | c.87+2714A>T | - | IntronicSNV | - | 1/6 |
5-82973210-C-G | HAPLN1 | c.1-3868G>C | - | IntronicSNV | - | 1/4 |
6-160772842-C-T | SLC22A3 | c.429+2962C>T | - | IntronicSNV | - | 1/10 |
3-127963448-A-G | EEFSEC | c.317-2231A>G | - | IntronicSNV | - | 1/6 |
6-127633959-T-C | ECHDC1 | c.497+2002A>G | - | IntronicSNV | - | 5/5 |
21-31179674-G-C | GRIK1 | c.119-113292C>G | - | IntronicSNV | - | 1/16 |
4-95511681-T-A | PDLIM5 | c.593+4086T>A | - | IntronicSNV | - | 7/12 |
15-48876157-C-T | FBN1 | c.538+12323G>A | - | IntronicSNV | - | 6/65 |
16-68725486-A-G | CDH3 | c.1796-137A>G | - | IntronicSNV | - | 12/15 |
16-68819614-C-T | CDH1 | c.164-15959C>T | - | IntronicSNV | - | 2/15 |
10-123732431-A-G | NSMCE4A | c.370+1088T>C | - | IntronicSNV | - | 2/10 |
15-48911684-T-C | FBN1 | c.165-6395A>G | - | IntronicSNV | - | 2/65 |
15-48702873-G-A | FBN1 | c.*314C>T | - | 3-UTRSNV | 66/66 | - |
19-33537096-T-C | RHPN2 | c.70-1826A>G | - | IntronicSNV | - | 1/14 |
19-33537096-T-A | RHPN2 | c.70-1826A>T | - | IntronicSNV | - | 1/14 |
3-127934218-A-G | EEFSEC | c.317-31461A>G | - | IntronicSNV | - | 1/6 |
3-169502180-T-A | MYNN | c.1484-230T>A | - | IntronicSNV | - | 6/7 |
15-48864367-A-G | FBN1 | c.538+24113T>C | - | IntronicSNV | - | 6/65 |
3-169502180-T-C | MYNN | c.1484-230T>C | - | IntronicSNV | - | 6/7 |
4-95586279-T-C | PDLIM5 | c.*1061T>C | - | 3-UTRSNV | 13/13 | - |
4-106116961-C-G | TET2 | c.-47+5299C>G | - | intron_variant | - | 2/2 |
12-50762489-G-A | FAM186A | c.193-5342C>T | - | IntronicSNV | - | 1/7 |
5-56114526-T-G | MAP3K1 | c.482+2644T>G | - | IntronicSNV | - | 1/19 |
16-68815549-T-A | CDH1 | c.164-20024T>A | - | IntronicSNV | - | 2/15 |
10-123340311-C-T | FGFR2 | c.109+12912G>A | - | IntronicSNV | - | 2/17 |
13-95858135-G-A | ABCC4 | c.1161+651C>T | - | IntronicSNV | - | 8/30 |
6-117239086-A-C | RFX6 | c.973-114A>C | - | IntronicSNV | - | 9/18 |
3-127943328-A-G | EEFSEC | c.317-22351A>G | - | IntronicSNV | - | 1/6 |
5-56150622-G-C | MAP3K1 | c.483-1805G>C | - | IntronicSNV | - | 1/19 |
4-95526241-T-A | PDLIM5 | c.594-12914T>A | - | IntronicSNV | - | 7/12 |
3-128122820-T-A | EEFSEC | c.1601-4092T>A | - | IntronicSNV | - | 6/6 |
3-128122820-T-C | EEFSEC | c.1601-4092T>C | - | IntronicSNV | - | 6/6 |
15-48771419-C-G | FBN1 | c.3964+2433G>C | - | IntronicSNV | - | 32/65 |
15-48931451-T-C | FBN1 | c.164+5352A>G | - | IntronicSNV | - | 2/65 |
3-127911820-G-A | EEFSEC | c.316+39154G>A | - | IntronicSNV | - | 1/6 |
19-17422649-G-A | DDA1 | c.3+2183G>A | - | IntronicSNV | - | 1/4 |
19-17422649-G-C | DDA1 | c.3+2183G>C | - | IntronicSNV | - | 1/4 |
3-128071809-A-G | EEFSEC | c.1444-5251A>G | - | IntronicSNV | - | 5/6 |
10-123654632-T-C | ATE1 | c.942+4749A>G | - | IntronicSNV | - | 7/11 |
19-33573444-C-T | GPATCH1 | c.73+1272C>T | - | IntronicSNV | - | 1/19 |
3-169500487-G-A | MYNN | c.1399+56G>A | - | IntronicSNV | - | 5/7 |
6-41533579-C-T | FOXP4 | c.81C>T | p.Ala27Ala | Synonymous | 2/17 | - |
12-50939807-A-T | DIP2B | c.100+40784A>T | - | IntronicSNV | - | 1/37 |
4-106097339-T-C | TET2 | c.-192-14178T>C | - | intron_variant | - | 1/2 |
16-68814502-A-T | CDH1 | c.164-21071A>T | - | IntronicSNV | - | 2/15 |
4-95474122-G-A | PDLIM5 | c.249-20380G>A | - | IntronicSNV | - | 3/12 |
5-56224339-G-T | MIER3 | c.921+255C>A | - | IntronicSNV | - | 10/12 |
2-20979753-G-C | LDAH | c.299-5014C>G | - | IntronicSNV | - | 3/6 |
4-95575601-C-T | PDLIM5 | c.957-10C>T | - | IntronicSNV | - | 9/12 |
12-51173733-A-G | ATF1 | c.1-196A>G | - | IntronicSNV | - | 1/6 |
3-128071809-A-T | EEFSEC | c.1444-5251A>T | - | IntronicSNV | - | 5/6 |
16-53230106-G-C | CHD9 | c.1453-13288G>C | - | IntronicSNV | - | 2/38 |
6-160772900-G-A | SLC22A3 | c.429+3020G>A | - | IntronicSNV | - | 1/10 |
15-48901313-C-T | FBN1 | c.346+1612G>A | - | IntronicSNV | - | 4/65 |
15-48713996-G-T | FBN1 | c.7571-113C>A | - | IntronicSNV | - | 61/65 |
3-127903678-T-G | EEFSEC | c.316+31012T>G | - | IntronicSNV | - | 1/6 |
3-127903678-T-C | EEFSEC | c.316+31012T>C | - | IntronicSNV | - | 1/6 |