PMID: 23001124

Breast cancer risk-associated SNPs modulate the affinity of chromatin for FOXA1 and alter gene expression.

Nature genetics
R Cowper-Sal lari, X Zhang, JB Wright, SD Bailey, MD Cole, J Eeckhoute, JH Moore, M Lupien
2012-11

1441 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-126684074-C-G CTBP2 c.566-822G>C - IntronicSNV - 6/10
11-111171646-T-G COLCA2 c.-190+300T>G - intron_variant - 2/4
11-111154072-A-C C11orf53 c.164-729A>C - intron_variant - 3/4
2-20887369-C-A LDAH c.787-515G>T - IntronicSNV - 6/6
16-68832750-A-G CDH1 c.164-2823A>G - IntronicSNV - 2/15
15-48753624-C-A FBN1 c.5225-1110G>T - IntronicSNV - 42/65
3-127948060-A-T EEFSEC c.317-17619A>T - IntronicSNV - 1/6
3-127948060-A-G EEFSEC c.317-17619A>G - IntronicSNV - 1/6
10-123640521-T-C ATE1 c.943-10968A>G - IntronicSNV - 7/11
15-48834860-A-G FBN1 c.539-4855T>C - IntronicSNV - 6/65
4-95494126-G-A PDLIM5 c.249-376G>A - IntronicSNV - 3/12
7-97927045-G-A BAIAP2L1 c.1423-3622C>T - IntronicSNV - 12/13
6-152129129-C-A ESR1 c.82C>A p.Arg28Ser Missense 1/8 -
6-51540062-T-A PKHD1 c.10157-15295A>T - IntronicSNV - 60/66
13-95865018-C-T ABCC4 c.532-1983G>A - IntronicSNV - 4/30
4-95581543-A-T PDLIM5 c.1259-2030A>T - IntronicSNV - 11/12
22-40436973-G-C FAM83F c.*11404G>C - IntergenicSNV 5/5 -
7-97937258-T-C BAIAP2L1 c.956-50A>G - IntronicSNV - 9/13
7-97937258-T-A BAIAP2L1 c.956-50A>T - IntronicSNV - 9/13
19-38743962-A-G PPP1R14A c.202-348T>C - IntronicSNV - 1/3
4-95555932-C-T PDLIM5 c.782-5495C>T - IntronicSNV - 8/12
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
20-60964064-A-G CABLES2 c.*1963T>C - 3-UTRSNV 10/10 -
16-68788909-G-T CDH1 c.163+16595G>T - IntronicSNV - 2/15
10-123583975-T-C ATE1 c.1257+12258A>G - IntronicSNV - 10/11
6-160774459-C-T SLC22A3 c.429+4579C>T - IntronicSNV - 1/10
4-95466965-T-C PDLIM5 c.248+21939T>C - IntronicSNV - 3/12
7-98016373-G-A BAIAP2L1 c.51+13741C>T - IntronicSNV - 1/13
11-111140043-C-G C11orf53 c.121-12080C>G - intron_variant - 2/4
7-97859060-C-T TECPR1 c.2283-582G>A - IntronicSNV - 15/25
3-169568492-A-T LRRC31 c.1159+915T>A - IntronicSNV - 7/8
3-127920023-T-C EEFSEC c.317-45656T>C - IntronicSNV - 1/6
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-C CDH1 c.163+2486G>C - IntronicSNV - 2/15
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
4-95528867-T-A PDLIM5 c.594-10288T>A - IntronicSNV - 7/12
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
6-160772842-C-T SLC22A3 c.429+2962C>T - IntronicSNV - 1/10
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
10-123332577-C-T FGFR2 c.110-7359G>A - IntronicSNV - 2/17
10-123332577-C-G FGFR2 c.110-7359G>C - IntronicSNV - 2/17
6-151939848-C-T CCDC170 c.*566C>T - 3-UTRSNV 11/11 -
3-169554084-G-A LRRIQ4 c.1531-1183G>A - IntronicSNV - 4/4
7-28030486-T-C JAZF1 c.188+1042A>G - IntronicSNV - 2/4
6-117218355-G-A RFX6 c.672+1985G>A - IntronicSNV - 6/18
2-20929067-T-C LDAH c.703+10664A>G - IntronicSNV - 5/6
15-48813835-G-T FBN1 c.989-821C>A - IntronicSNV - 9/65
7-98010811-G-T BAIAP2L1 c.52-19067C>A - IntronicSNV - 1/13
3-27433397-A-T SLC4A7 c.3091-98T>A - IntronicSNV - 20/24
10-5926131-G-A ANKRD16 c.579-91C>T - IntronicSNV - 3/7
10-80846608-T-C ZMIZ1 c.-337+17581T>C - intron_variant - 1/24
6-160774441-G-A SLC22A3 c.429+4561G>A - IntronicSNV - 1/10
6-160774441-G-T SLC22A3 c.429+4561G>T - IntronicSNV - 1/10
15-48779138-G-T FBN1 c.3589+134C>A - IntronicSNV - 29/65
3-169568510-T-C LRRC31 c.1159+897A>G - IntronicSNV - 7/8
7-98005332-A-C BAIAP2L1 c.52-13588T>G - IntronicSNV - 1/13
11-1884342-G-A LSP1 c.53+9915G>A - IntronicSNV - 1/10
4-95579366-T-C PDLIM5 c.1258+668T>C - IntronicSNV - 11/12
10-123652873-G-A ATE1 c.942+6508C>T - IntronicSNV - 7/11
12-51042890-C-A DIP2B c.301+8255C>A - IntronicSNV - 3/37
15-48720271-C-G FBN1 c.6997+272G>C - IntronicSNV - 57/65
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
6-160863532-T-C SLC22A3 c.1289-261T>C - IntronicSNV - 7/10
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
7-27997214-G-C JAZF1 c.188+34314C>G - IntronicSNV - 2/4
6-41527698-G-A FOXP4 c.1-5801G>A - IntronicSNV - 1/16
7-98016417-C-G BAIAP2L1 c.51+13697G>C - IntronicSNV - 1/13
10-123649969-A-G ATE1 c.942+9412T>C - IntronicSNV - 7/11
12-51128832-A-G DIP2B c.4044-24A>G - IntronicSNV - 33/37
15-48906577-A-G FBN1 c.165-1288T>C - IntronicSNV - 2/65
7-27936709-T-G JAZF1 c.189-1674A>C - IntronicSNV - 2/4
4-95544162-C-T PDLIM5 c.781+4820C>T - IntronicSNV - 8/12
12-50727811-C-T FAM186A c.6579G>A p.Met2193Ile Missense 5/8 -
7-97822115-T-A LMTK2 c.2338T>A p.Leu780Met Missense 11/14 -
12-50744119-G-A FAM186A c.6496C>T p.His2166Tyr Missense 4/8 -
6-117251251-C-T RFX6 c.2611+1117C>T - IntronicSNV - 18/18
13-95872515-A-C ABCC4 c.532-9480T>G - IntronicSNV - 4/30
5-44809945-G-C MRPS30 c.601+280G>C - IntronicSNV - 1/4
4-95465526-G-A PDLIM5 c.248+20500G>A - IntronicSNV - 3/12
17-48263903-A-G COL1A1 c.3815-35T>C - IntronicSNV - 48/50
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 -
2-43537711-C-A THADA c.4438+9874G>T - IntronicSNV - 31/37
6-117210606-A-G RFX6 c.567-4544A>G - IntronicSNV - 4/18
4-95428800-A-G PDLIM5 c.97-16075A>G - IntronicSNV - 2/12
12-51073523-G-A DIP2B c.1114+864G>A - IntronicSNV - 8/37
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
3-128119565-A-G EEFSEC c.1601-7347A>G - IntronicSNV - 6/6
10-123338975-A-G FGFR2 c.110-13757T>C - IntronicSNV - 2/17
11-1891284-T-A LSP1 c.54-10033T>A - IntronicSNV - 1/10
13-95878842-G-A ABCC4 c.531+8022C>T - IntronicSNV - 4/30
7-97925382-T-G BAIAP2L1 c.1423-1959A>C - IntronicSNV - 12/13
6-51516958-T-C PKHD1 c.11175-2940A>G - IntronicSNV - 61/66
7-97934150-T-C BAIAP2L1 c.1242-462A>G - IntronicSNV - 11/13
6-160838361-A-G SLC22A3 c.975+6483A>G - IntronicSNV - 5/10
6-127633810-A-T ECHDC1 c.497+2151T>A - IntronicSNV - 5/5
15-48894610-G-C FBN1 c.347-2179C>G - IntronicSNV - 4/65
13-95866580-A-C ABCC4 c.532-3545T>G - IntronicSNV - 4/30
13-95866580-A-G ABCC4 c.532-3545T>C - 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
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 -
19-33572397-G-A GPATCH1 c.73+225G>A - IntronicSNV - 1/19
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
6-117245001-T-C RFX6 c.1555+614T>C - IntronicSNV - 14/18
6-117240593-G-A RFX6 c.1182+134G>A - IntronicSNV - 11/18
2-43590329-C-T THADA c.4228-18953G>A - IntronicSNV - 29/37
15-48912623-C-T FBN1 c.165-7334G>A - IntronicSNV - 2/65
10-123591176-T-C ATE1 c.1257+5057A>G - IntronicSNV - 10/11
16-52571605-T-A TOX3 c.87+8944A>T - IntronicSNV - 1/6
16-52571605-T-C TOX3 c.87+8944A>G - IntronicSNV - 1/6
5-56177443-G-C MAP3K1 c.2416G>C p.Asp806His Missense 14/20 -
10-123722906-C-T NSMCE4A c.754-63G>A - IntronicSNV - 5/10
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
10-80852768-T-G ZMIZ1 c.-337+23741T>G - intron_variant - 1/24
4-95438406-T-C PDLIM5 c.97-6469T>C - IntronicSNV - 2/12
6-160858188-G-A SLC22A3 c.1233G>A p.Ala411Ala Synonymous 7/11 -
15-48822627-C-T FBN1 c.862+3650G>A - IntronicSNV - 8/65
7-97931489-G-T BAIAP2L1 c.1422+2019C>A - IntronicSNV - 12/13
7-97931489-G-C BAIAP2L1 c.1422+2019C>G - IntronicSNV - 12/13
7-97931489-G-A BAIAP2L1 c.1422+2019C>T - IntronicSNV - 12/13
6-51635481-T-C PKHD1 c.8642+2019A>G - IntronicSNV - 55/66
12-50730458-C-T FAM186A c.6504-2572G>A - IntronicSNV - 4/7
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
5-10451154-G-A ROPN1L c.417+929G>A - IntronicSNV - 3/4
10-5926931-A-C ANKRD16 c.578+755T>G - IntronicSNV - 3/7
12-50739008-C-T FAM186A c.6503+5104G>A - IntronicSNV - 4/7
16-68728976-C-G CDH3 c.2003-182C>G - IntronicSNV - 13/15
3-128095652-T-C EEFSEC c.1600+18436T>C - IntronicSNV - 6/6
6-160797625-G-T SLC22A3 c.430-21386G>T - IntronicSNV - 1/10
3-127918000-G-A EEFSEC c.316+45334G>A - IntronicSNV - 1/6
6-160791370-C-A SLC22A3 c.429+21490C>A - IntronicSNV - 1/10
12-51185764-C-G ATF1 c.94-3928C>G - IntronicSNV - 2/6
12-50730458-C-G FAM186A c.6504-2572G>C - IntronicSNV - 4/7
10-123633529-A-G ATE1 c.943-3976T>C - IntronicSNV - 7/11
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
10-5926931-A-G ANKRD16 c.578+755T>C - IntronicSNV - 3/7
4-95555833-G-A PDLIM5 c.782-5594G>A - IntronicSNV - 8/12
7-97975542-T-G BAIAP2L1 c.214+8812A>C - IntronicSNV - 3/13
7-97975542-T-A BAIAP2L1 c.214+8812A>T - IntronicSNV - 3/13
10-123651987-T-C ATE1 c.942+7394A>G - IntronicSNV - 7/11
6-51634438-T-C PKHD1 c.8642+3062A>G - IntronicSNV - 55/66
6-51634438-T-A PKHD1 c.8642+3062A>T - IntronicSNV - 55/66
15-48835935-C-T FBN1 c.539-5930G>A - IntronicSNV - 6/65
15-48896830-T-C FBN1 c.347-4399A>G - IntronicSNV - 4/65
6-127634244-G-T ECHDC1 c.497+1717C>A - IntronicSNV - 5/5
12-51074873-T-A DIP2B c.1206+327T>A - IntronicSNV - 9/37
12-50665946-G-T LIMA1 c.-24+11257C>A - intron_variant - 1/10
6-51518321-T-G PKHD1 c.11175-4303A>C - IntronicSNV - 61/66
4-95514609-A-C PDLIM5 c.593+7014A>C - IntronicSNV - 7/12
4-106138146-T-C TET2 c.1-16954T>C - IntronicSNV - 2/2
4-95493721-A-G PDLIM5 c.249-781A>G - IntronicSNV - 3/12
3-127913263-A-G EEFSEC c.316+40597A>G - IntronicSNV - 1/6
3-127944477-C-A EEFSEC c.317-21202C>A - IntronicSNV - 1/6
6-51654431-T-C PKHD1 c.8440+1603A>G - IntronicSNV - 53/66
6-51635011-C-T PKHD1 c.8642+2489G>A - IntronicSNV - 55/66
22-40493860-C-T TNRC6B c.-120-19199C>T - intron_variant - 1/23
4-95460949-G-A PDLIM5 c.248+15923G>A - IntronicSNV - 3/12
3-169512145-C-A LRRC34 c.1096-519G>T - IntronicSNV - 9/9
10-80834685-C-T ZMIZ1 c.-337+5658C>T - intron_variant - 1/24
3-127944477-C-G EEFSEC c.317-21202C>G - 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
6-41519522-G-A FOXP4 c.-17+4917G>A - intron_variant - 1/16
13-95886276-T-C ABCC4 c.531+588A>G - IntronicSNV - 4/30
7-97921533-A-G BAIAP2L1 c.*1300T>C - 3-UTRSNV 14/14 -
9-6219176-G-C IL33 c.-12+3324G>C - intron_variant - 1/7
4-95510638-G-A PDLIM5 c.593+3043G>A - IntronicSNV - 7/12
6-160856843-C-T SLC22A3 c.976-969C>T - IntronicSNV - 5/10
15-48779138-G-A FBN1 c.3589+134C>T - IntronicSNV - 29/65
6-51650799-A-G PKHD1 c.8440+5235T>C - IntronicSNV - 53/66
6-117252197-C-T RFX6 c.2612-297C>T - IntronicSNV - 18/18
6-160860430-C-T SLC22A3 c.1288+2187C>T - IntronicSNV - 7/10
6-127630963-A-T ECHDC1 c.497+4998T>A - IntronicSNV - 5/5
4-106151642-G-A TET2 c.1-3458G>A - IntronicSNV - 2/2
4-95544285-T-C PDLIM5 c.781+4943T>C - IntronicSNV - 8/12
13-95866067-A-G ABCC4 c.532-3032T>C - IntronicSNV - 4/30
18-46454048-A-T SMAD7 c.743-5768T>A - IntronicSNV - 3/3
2-63134879-C-A EHBP1 c.1290+33212C>A - IntronicSNV - 11/24
15-48820901-T-C FBN1 c.863-2449A>G - IntronicSNV - 8/65
10-80838868-T-C ZMIZ1 c.-337+9841T>C - intron_variant - 1/24
10-126683857-C-T CTBP2 c.566-605G>A - IntronicSNV - 6/10
6-117230721-T-A RFX6 c.673-1377T>A - IntronicSNV - 6/18
5-10453701-A-C ROPN1L c.417+3476A>C - IntronicSNV - 3/4
6-160840252-G-A SLC22A3 c.975+8374G>A - IntronicSNV - 5/10
4-95481377-G-A PDLIM5 c.249-13125G>A - IntronicSNV - 3/12
3-128064118-A-C EEFSEC c.1443+3386A>C - IntronicSNV - 5/6
13-95838784-G-T ABCC4 c.1545+171C>A - IntronicSNV - 11/30
3-128038834-C-T EEFSEC c.787-21242C>T - IntronicSNV - 4/6
15-48861476-A-G FBN1 c.538+27004T>C - IntronicSNV - 6/65
6-117251663-C-T RFX6 c.2612-831C>T - IntronicSNV - 18/18
16-68824008-A-G CDH1 c.164-11565A>G - IntronicSNV - 2/15
6-117235656-G-C RFX6 c.781-1515G>C - IntronicSNV - 7/18
6-51619444-G-A PKHD1 c.8797+138C>T - IntronicSNV - 56/66
15-48724768-C-T FBN1 c.6739+295G>A - IntronicSNV - 55/65
15-48724768-C-G FBN1 c.6739+295G>C - IntronicSNV - 55/65
12-50650564-G-A LIMA1 c.1-8030C>T - IntronicSNV - 1/10
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
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
6-117242021-T-C RFX6 c.1327+404T>C - IntronicSNV - 12/18
12-51209636-A-G ATF1 c.671+1414A>G - IntronicSNV - 6/6
6-117206395-G-A RFX6 c.566+2804G>A - IntronicSNV - 4/18
16-68729525-C-T CDH3 c.2134-155C>T - IntronicSNV - 14/15
16-68729525-C-G CDH3 c.2134-155C>G - IntronicSNV - 14/15
6-151941461-G-A CCDC170 c.*2179G>A - 3-UTRSNV 11/11 -
5-10443851-G-A ROPN1L c.131+1441G>A - IntronicSNV - 1/4
4-95582359-C-T PDLIM5 c.1259-1214C>T - IntronicSNV - 11/12
6-127659473-A-T ECHDC1 c.-3+5008T>A - intron_variant - 1/5
3-37966945-G-A CTDSPL c.80-21603G>A - IntronicSNV - 1/6
10-123649718-C-T ATE1 c.942+9663G>A - IntronicSNV - 7/11
6-160770360-A-G SLC22A3 c.429+480A>G - IntronicSNV - 1/10
7-27937267-C-T JAZF1 c.189-2232G>A - IntronicSNV - 2/4
10-123346116-G-A FGFR2 c.109+7107C>T - IntronicSNV - 2/17
7-97781799-C-T LMTK2 c.450+1032C>T - IntronicSNV - 4/13
7-97878710-T-C TECPR1 c.-20+1996A>G - intron_variant - 2/25
10-123630087-A-G ATE1 c.943-534T>C - IntronicSNV - 7/11
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
3-127916551-G-A EEFSEC c.316+43885G>A - IntronicSNV - 1/6
11-111152496-C-A C11orf53 c.163+331C>A - intron_variant - 3/4
11-111152496-C-G C11orf53 c.163+331C>G - intron_variant - 3/4
20-60930093-G-A LAMA5 c.451-1786C>T - IntronicSNV - 2/79
6-41550172-C-T FOXP4 c.301-2335C>T - IntronicSNV - 3/16
21-31172315-C-T GRIK1 c.119-105933G>A - IntronicSNV - 1/16
15-48757195-A-G FBN1 c.4942+570T>C - IntronicSNV - 40/65
22-40526472-C-A TNRC6B c.45+4606C>A - IntronicSNV - 3/23
3-128094493-T-C EEFSEC c.1600+17277T>C - IntronicSNV - 6/6
2-63238346-G-C EHBP1 c.3316+14445G>C - IntronicSNV - 21/24
15-48859733-A-G FBN1 c.538+28747T>C - IntronicSNV - 6/65
2-63027337-T-G EHBP1 c.313-25885T>G - IntronicSNV - 5/24
3-27468297-C-G SLC4A7 c.1124-2654G>C - IntronicSNV - 7/24
7-27937203-C-T JAZF1 c.189-2168G>A - IntronicSNV - 2/4
15-48836119-T-C FBN1 c.539-6114A>G - IntronicSNV - 6/65
6-127650299-T-G ECHDC1 c.220+1655A>C - IntronicSNV - 2/5
6-127650299-T-A ECHDC1 c.220+1655A>T - IntronicSNV - 2/5
6-127650299-T-C ECHDC1 c.220+1655A>G - IntronicSNV - 2/5
16-68810923-T-C CDH1 c.164-24650T>C - IntronicSNV - 2/15
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
3-169486144-A-G ACTRT3 c.201-6T>C - IntronicSNV - 1/1
16-74491733-A-G GLG1 c.3265+39T>C - IntronicSNV - 24/26
16-68802282-G-A CDH1 c.163+29968G>A - IntronicSNV - 2/15
6-117215114-T-C RFX6 c.567-36T>C - IntronicSNV - 4/18
7-98004562-T-C BAIAP2L1 c.52-12818A>G - IntronicSNV - 1/13
21-31166904-T-A GRIK1 c.119-100522A>T - IntronicSNV - 1/16
16-52536885-C-A TOX3 c.88-34399G>T - IntronicSNV - 1/6
5-10450427-T-A ROPN1L c.417+202T>A - IntronicSNV - 3/4
3-127934329-T-A EEFSEC c.317-31350T>A - IntronicSNV - 1/6
9-6233082-A-T IL33 c.1-8613A>T - IntronicSNV - 1/7
4-95451193-G-T PDLIM5 c.248+6167G>T - IntronicSNV - 3/12
9-6233082-A-G IL33 c.1-8613A>G - IntronicSNV - 1/7
3-127940353-T-G EEFSEC c.317-25326T>G - IntronicSNV - 1/6
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
16-52543645-C-A TOX3 c.87+36904G>T - IntronicSNV - 1/6
3-27416999-T-C SLC4A7 c.*1256A>G - 3-UTRSNV 25/25 -
7-97921834-A-G BAIAP2L1 c.*999T>C - 3-UTRSNV 14/14 -
16-68809273-T-C CDH1 c.164-26300T>C - IntronicSNV - 2/15
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
3-87291880-G-T CHMP2B c.126+1940G>T - IntronicSNV - 2/5
20-60895697-C-T LAMA5 c.6677G>A p.Arg2226His Missense 50/80 -
10-123348902-T-C FGFR2 c.109+4321A>G - IntronicSNV - 2/17
10-123724289-T-G NSMCE4A c.753+512A>C - IntronicSNV - 5/10
10-123602565-A-C ATE1 c.976-1787T>G - IntronicSNV - 8/11
12-51032415-A-G DIP2B c.173-2092A>G - IntronicSNV - 2/37
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
15-48809080-G-A FBN1 c.1148-521C>T - IntronicSNV - 10/65
16-68832414-T-C CDH1 c.164-3159T>C - IntronicSNV - 2/15
10-123660230-C-G ATE1 c.814-721G>C - IntronicSNV - 6/11
2-20924110-T-C LDAH c.703+15621A>G - IntronicSNV - 5/6
6-127655614-G-A ECHDC1 c.1-3441C>T - IntronicSNV - 1/5
7-97965016-A-G BAIAP2L1 c.215-15406T>C - IntronicSNV - 3/13
10-123637700-G-A ATE1 c.943-8147C>T - IntronicSNV - 7/11
10-123625190-T-C ATE1 c.975+4331A>G - IntronicSNV - 8/11
10-5926079-A-C ANKRD16 c.579-39T>G - IntronicSNV - 3/7
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 -
10-123676747-G-A ATE1 c.234-3339C>T - IntronicSNV - 3/11
10-123676747-G-C ATE1 c.234-3339C>G - IntronicSNV - 3/11
10-123351302-G-A FGFR2 c.109+1921C>T - IntronicSNV - 2/17
6-117212689-A-G RFX6 c.567-2461A>G - IntronicSNV - 4/18
15-48813835-G-C FBN1 c.989-821C>G - IntronicSNV - 9/65
15-48813835-G-A FBN1 c.989-821C>T - IntronicSNV - 9/65
4-95574123-G-A PDLIM5 c.957-1488G>A - IntronicSNV - 9/12
16-52538040-T-C TOX3 c.88-35554A>G - IntronicSNV - 1/6
21-31132797-C-G GRIK1 c.119-66415G>C - IntronicSNV - 1/16
13-95862409-A-T ABCC4 c.621+537T>A - IntronicSNV - 5/30
3-37992540-T-C CTDSPL c.234+3838T>C - IntronicSNV - 2/6
6-160850273-C-T SLC22A3 c.976-7539C>T - IntronicSNV - 5/10
3-169563450-T-C LRRC31 c.1327+2458A>G - IntronicSNV - 8/8
15-48905710-C-A FBN1 c.165-421G>T - IntronicSNV - 2/65
15-48857455-A-G FBN1 c.539-27450T>C - IntronicSNV - 6/65
15-48905710-C-T FBN1 c.165-421G>A - IntronicSNV - 2/65
16-68797893-C-A CDH1 c.163+25579C>A - IntronicSNV - 2/15
16-52571533-A-T TOX3 c.87+9016T>A - IntronicSNV - 1/6
16-68797893-C-T CDH1 c.163+25579C>T - IntronicSNV - 2/15
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
6-51655133-A-C PKHD1 c.8440+901T>G - IntronicSNV - 53/66
10-123727970-A-T NSMCE4A c.502-649T>A - IntronicSNV - 3/10
20-60970675-G-A CABLES2 c.528-605C>T - IntronicSNV - 3/9
10-123727970-A-G NSMCE4A c.502-649T>C - IntronicSNV - 3/10
4-95441162-C-T PDLIM5 c.97-3713C>T - IntronicSNV - 2/12
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
11-111135745-A-G C11orf53 c.120+8928A>G - intron_variant - 2/4
19-17430915-G-A DDA1 c.*450G>A - 3-UTRSNV 5/5 -
13-95878641-T-C ABCC4 c.531+8223A>G - IntronicSNV - 4/30
6-117246429-A-C RFX6 c.1679-187A>C - IntronicSNV - 15/18
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
3-127895226-A-G EEFSEC c.316+22560A>G - IntronicSNV - 1/6
22-40496656-C-T TNRC6B c.-120-16403C>T - intron_variant - 1/23
11-111173290-C-T COLCA2 c.-190+1944C>T - intron_variant - 2/4
16-68790394-G-A CDH1 c.163+18080G>A - IntronicSNV - 2/15
10-123334930-G-A FGFR2 c.110-9712C>T - IntronicSNV - 2/17
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
2-20970053-G-A LDAH c.468+4517C>T - IntronicSNV - 4/6
20-60899182-C-G LAMA5 c.5722G>C p.Ala1908Pro Missense 43/80 -
6-160782934-G-A SLC22A3 c.429+13054G>A - IntronicSNV - 1/10
6-160782934-G-C SLC22A3 c.429+13054G>C - IntronicSNV - 1/10
10-123334930-G-T FGFR2 c.110-9712C>A - IntronicSNV - 2/17
10-126688968-A-G CTBP2 c.359-2229T>C - IntronicSNV - 5/10
22-40453964-A-C TNRC6B c.-121+12962A>C - intron_variant - 1/23
15-48706571-A-T FBN1 c.8051+1162T>A - IntronicSNV - 64/65
22-40453964-A-G TNRC6B c.-121+12962A>G - intron_variant - 1/23
15-48835355-T-C FBN1 c.539-5350A>G - IntronicSNV - 6/65
3-37966515-A-G CTDSPL c.80-22033A>G - IntronicSNV - 1/6
5-10460216-C-A ROPN1L c.418-1080C>A - IntronicSNV - 3/4
12-50749294-A-G FAM186A c.1321T>C p.Leu441Leu Synonymous 4/8 -
6-127621748-A-G ECHDC1 c.498-10326T>C - IntronicSNV - 5/5
6-127621748-A-T ECHDC1 c.498-10326T>A - IntronicSNV - 5/5
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
12-51080940-T-C DIP2B c.1551+475T>C - IntronicSNV - 12/37
6-41536427-C-T FOXP4 c.204+2725C>T - IntronicSNV - 2/16
6-151934614-A-G CCDC170 c.1711-1964A>G - IntronicSNV - 9/10
3-127889404-T-C EEFSEC c.316+16738T>C - IntronicSNV - 1/6
22-40464936-A-G TNRC6B c.-121+23934A>G - intron_variant - 1/23
12-50750471-G-T FAM186A c.584-440C>A - IntronicSNV - 3/7
16-52549935-C-T TOX3 c.87+30614G>A - IntronicSNV - 1/6
5-56125353-A-T MAP3K1 c.482+13471A>T - IntronicSNV - 1/19
2-20988399-T-C LDAH c.298+1616A>G - IntronicSNV - 3/6
5-82973396-T-C HAPLN1 c.1-4054A>G - IntronicSNV - 1/4
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
7-97951118-T-C BAIAP2L1 c.215-1508A>G - IntronicSNV - 3/13
7-97880226-T-G TECPR1 c.-20+480A>C - intron_variant - 2/25
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
6-117252341-A-G RFX6 c.2612-153A>G - IntronicSNV - 18/18
5-56125353-A-G MAP3K1 c.482+13471A>G - IntronicSNV - 1/19
5-56132115-C-G MAP3K1 c.482+20233C>G - IntronicSNV - 1/19
3-128075398-T-G EEFSEC c.1444-1662T>G - IntronicSNV - 5/6
15-48753145-C-A FBN1 c.5225-631G>T - IntronicSNV - 42/65
6-117252672-C-A RFX6 c.*3C>A - 3-UTRSNV 19/19 -
12-51185950-C-T ATF1 c.94-3742C>T - IntronicSNV - 2/6
16-68732977-G-A CDH3 c.*674G>A - IntergenicSNV 16/16 -
15-48774288-A-G FBN1 c.3839-311T>C - IntronicSNV - 31/65
15-48774288-A-C FBN1 c.3839-311T>G - IntronicSNV - 31/65
15-48900586-T-C FBN1 c.346+2339A>G - IntronicSNV - 4/65
15-48770106-T-C FBN1 c.3965-3259A>G - IntronicSNV - 32/65
21-31172454-C-A GRIK1 c.119-106072G>T - IntronicSNV - 1/16
6-160969738-C-G LPA c.4974-47G>C - IntronicSNV - 30/38
6-160858188-G-C SLC22A3 c.1233G>C p.Ala411Ala Synonymous 7/11 -
10-5926154-A-G ANKRD16 c.579-114T>C - IntronicSNV - 3/7
15-48750520-C-A FBN1 c.5297-1561G>T - IntronicSNV - 43/65
6-151914113-G-A CCDC170 c.1294-129G>A - IntronicSNV - 7/10
6-127610021-G-C ECHDC1 c.*993C>G - 3-UTRSNV 6/6 -
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
6-41527698-G-C FOXP4 c.1-5801G>C - IntronicSNV - 1/16
3-169493283-C-T MYNN c.266+934C>T - IntronicSNV - 2/7
5-56133748-G-T MAP3K1 c.483-18679G>T - IntronicSNV - 1/19
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
5-56133748-G-C MAP3K1 c.483-18679G>C - IntronicSNV - 1/19
6-41544494-A-G FOXP4 c.205-1230A>G - IntronicSNV - 2/16
19-38773522-T-C SPINT2 c.107-4994T>C - IntronicSNV - 1/5
15-48710468-A-G FBN1 c.7819+2416T>C - IntronicSNV - 63/65
7-97826340-G-A LMTK2 c.4107+2456G>A - IntronicSNV - 11/13
10-123653034-G-T ATE1 c.942+6347C>A - IntronicSNV - 7/11
5-56210923-G-A SETD9 c.812+130G>A - IntronicSNV - 5/5
6-41544494-A-C FOXP4 c.205-1230A>C - IntronicSNV - 2/16
3-128081260-G-C EEFSEC c.1600+4044G>C - IntronicSNV - 6/6
7-97817321-A-G LMTK2 c.998+1011A>G - IntronicSNV - 9/13
4-95528173-G-A PDLIM5 c.594-10982G>A - IntronicSNV - 7/12
3-128038373-C-A EEFSEC c.787-21703C>A - IntronicSNV - 4/6
3-169554264-T-C LRRIQ4 c.1531-1003T>C - IntronicSNV - 4/4
6-160851766-T-C SLC22A3 c.976-6046T>C - IntronicSNV - 5/10
10-123609422-T-G ATE1 c.976-8644A>C - IntronicSNV - 8/11
12-50641572-C-T LIMA1 c.119+844G>A - IntronicSNV - 2/10
6-160868654-C-T SLC22A3 c.1511-97C>T - IntronicSNV - 9/10
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 -
13-95876101-C-G ABCC4 c.531+10763G>C - IntronicSNV - 4/30
6-41554182-A-G FOXP4 c.511-565A>G - IntronicSNV - 5/16
22-40434757-A-G FAM83F c.*9188A>G - IntergenicSNV 5/5 -
10-5930579-G-A ANKRD16 c.314+425C>T - IntronicSNV - 1/7
4-95571976-G-C PDLIM5 c.957-3635G>C - IntronicSNV - 9/12
4-95575323-G-A PDLIM5 c.957-288G>A - IntronicSNV - 9/12
7-97741795-C-T LMTK2 c.103+5203C>T - IntronicSNV - 1/13
21-31152048-G-A GRIK1 c.119-85666C>T - IntronicSNV - 1/16
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
22-40468008-T-C TNRC6B c.-121+27006T>C - intron_variant - 1/23
7-97739317-G-A LMTK2 c.103+2725G>A - IntronicSNV - 1/13
6-117252136-G-A RFX6 c.2612-358G>A - IntronicSNV - 18/18
16-68774283-T-C CDH1 c.163+1969T>C - IntronicSNV - 2/15
7-97798117-G-A LMTK2 c.658-2736G>A - IntronicSNV - 6/13
19-17354825-C-T NR2F6 c.278+927G>A - IntronicSNV - 1/3
3-27421457-C-G SLC4A7 c.3564-3121G>C - IntronicSNV - 24/24
3-127940534-A-G EEFSEC c.317-25145A>G - IntronicSNV - 1/6
3-127888067-G-A EEFSEC c.316+15401G>A - IntronicSNV - 1/6
6-117247715-C-T RFX6 c.1886-475C>T - IntronicSNV - 16/18
6-127640190-A-G ECHDC1 c.364-2543T>C - IntronicSNV - 3/5
16-68713823-C-A CDH3 c.813C>A p.Thr271Thr Synonymous 7/16 -
13-95858058-A-G ABCC4 c.1161+728T>C - IntronicSNV - 8/30
6-117250515-G-C RFX6 c.2611+381G>C - IntronicSNV - 18/18
10-80836590-C-T ZMIZ1 c.-337+7563C>T - intron_variant - 1/24
7-97960066-A-G BAIAP2L1 c.215-10456T>C - IntronicSNV - 3/13
3-27421457-C-T SLC4A7 c.3564-3121G>A - IntronicSNV - 24/24
10-126737997-A-C CTBP2 c.1-10374T>G - IntronicSNV - 2/10
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
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-T ECHDC1 c.364-2543T>A - IntronicSNV - 3/5
4-95573998-T-C PDLIM5 c.957-1613T>C - IntronicSNV - 9/12
16-68713823-C-T CDH3 c.813C>T p.Thr271Thr Synonymous 7/16 -
15-48792444-A-G FBN1 c.2114-1209T>C - IntronicSNV - 17/65
15-48790716-T-C FBN1 c.2167+466A>G - IntronicSNV - 18/65
6-127664661-G-A ECHDC1 c.-183C>T - 5_prime_UTR_variant 1/6 -
6-127664661-G-C ECHDC1 c.-183C>G - 5_prime_UTR_variant 1/6 -
15-48933821-C-T FBN1 c.164+2982G>A - IntronicSNV - 2/65
6-117237524-G-T RFX6 c.972+47G>T - IntronicSNV - 9/18
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
3-127923187-T-C EEFSEC c.317-42492T>C - IntronicSNV - 1/6
3-169518455-T-C LRRC34 c.657+3386A>G - IntronicSNV - 6/9
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 -
5-56172646-T-C MAP3K1 c.1965+1509T>C - IntronicSNV - 10/19
4-95458450-C-T PDLIM5 c.248+13424C>T - IntronicSNV - 3/12
4-95458450-C-A PDLIM5 c.248+13424C>A - IntronicSNV - 3/12
5-56226410-T-C MIER3 c.829+81A>G - IntronicSNV - 9/12
15-48706571-A-G FBN1 c.8051+1162T>C - IntronicSNV - 64/65
7-27987582-T-C JAZF1 c.188+43946A>G - IntronicSNV - 2/4
6-160808901-G-T SLC22A3 c.430-10110G>T - IntronicSNV - 1/10
4-95459422-C-A PDLIM5 c.248+14396C>A - IntronicSNV - 3/12
20-60916713-A-T LAMA5 c.1478-3049T>A - IntronicSNV - 11/79
13-95861804-A-G ABCC4 c.669T>C p.Ile223Ile Synonymous 6/31 -
13-95875518-C-T ABCC4 c.531+11346G>A - IntronicSNV - 4/30
16-68814826-G-A CDH1 c.164-20747G>A - IntronicSNV - 2/15
21-31179674-G-C GRIK1 c.119-113292C>G - IntronicSNV - 1/16
5-82982945-T-C HAPLN1 c.1-13603A>G - IntronicSNV - 1/4
6-160770312-A-G SLC22A3 c.429+432A>G - IntronicSNV - 1/10
10-126695673-G-A CTBP2 c.59-3612C>T - IntronicSNV - 3/10
14-54418411-G-T BMP4 c.370+160C>A - IntronicSNV - 3/3
10-123642743-G-T ATE1 c.943-13190C>A - IntronicSNV - 7/11
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
2-43541598-C-G THADA c.4438+5987G>C - IntronicSNV - 31/37
21-31179353-C-G GRIK1 c.119-112971G>C - IntronicSNV - 1/16
15-48801935-C-T FBN1 c.1714+306G>A - IntronicSNV - 14/65
6-160822925-A-G SLC22A3 c.533+3811A>G - IntronicSNV - 2/10
5-44810740-T-C MRPS30 c.602-371T>C - IntronicSNV - 1/4
10-126696872-T-C CTBP2 c.59-4811A>G - IntronicSNV - 3/10
10-123348662-T-G FGFR2 c.109+4561A>C - IntronicSNV - 2/17
10-123348662-T-A FGFR2 c.109+4561A>T - IntronicSNV - 2/17
6-160772900-G-A SLC22A3 c.429+3020G>A - IntronicSNV - 1/10
10-123642743-G-C ATE1 c.943-13190C>G - IntronicSNV - 7/11
6-117239141-T-C RFX6 c.973-59T>C - IntronicSNV - 9/18
6-160771192-G-C SLC22A3 c.429+1312G>C - IntronicSNV - 1/10
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 -
2-43541598-C-T THADA c.4438+5987G>A - IntronicSNV - 31/37
7-97982103-A-G BAIAP2L1 c.214+2251T>C - IntronicSNV - 3/13
19-33604531-C-T GPATCH1 c.1893-142C>T - IntronicSNV - 13/19
10-123718277-A-G NSMCE4A c.*574T>C - IntronicSNV - 10/10
16-52563626-G-A TOX3 c.87+16923C>T - IntronicSNV - 1/6
3-127933786-C-T EEFSEC c.317-31893C>T - IntronicSNV - 1/6
4-95579739-A-C PDLIM5 c.1258+1041A>C - IntronicSNV - 11/12
6-151925783-G-A CCDC170 c.1710+8071G>A - IntronicSNV - 9/10
15-48847615-C-A FBN1 c.539-17610G>T - IntronicSNV - 6/65
3-37996477-T-G CTDSPL c.234+7775T>G - IntronicSNV - 2/6
5-82994293-T-A HAPLN1 c.-27+22315A>T - intron_variant - 1/4
21-31191663-G-A GRIK1 c.118+120038C>T - IntronicSNV - 1/16
13-95864808-G-T ABCC4 c.532-1773C>A - IntronicSNV - 4/30
4-95537849-A-G PDLIM5 c.594-1306A>G - IntronicSNV - 7/12
21-31191663-G-T GRIK1 c.118+120038C>A - IntronicSNV - 1/16
4-95572699-C-T PDLIM5 c.957-2912C>T - IntronicSNV - 9/12
6-151933175-A-G CCDC170 c.1711-3403A>G - IntronicSNV - 9/10
3-169562797-G-A LRRC31 c.1327+3111C>T - IntronicSNV - 8/8
10-80842552-A-G ZMIZ1 c.-337+13525A>G - intron_variant - 1/24
6-151939770-T-C CCDC170 c.*488T>C - 3-UTRSNV 11/11 -
13-95863358-A-G ABCC4 c.532-323T>C - IntronicSNV - 4/30
16-68718750-A-G CDH3 c.1424+23A>G - IntronicSNV - 10/15
10-123726133-C-T NSMCE4A c.653+1037G>A - IntronicSNV - 4/10
12-51179340-G-A ATF1 c.93+5319G>A - IntronicSNV - 2/6
12-51040397-G-C DIP2B c.301+5762G>C - IntronicSNV - 3/37
15-48933821-C-G FBN1 c.164+2982G>C - IntronicSNV - 2/65
3-37969001-A-G CTDSPL c.80-19547A>G - IntronicSNV - 1/6
7-97796635-C-T LMTK2 c.658-4218C>T - IntronicSNV - 6/13
12-50744753-T-C FAM186A c.5862A>G p.Lys1954Lys Synonymous 4/8 -
5-56159578-T-C MAP3K1 c.835-983T>C - IntronicSNV - 3/19
6-160807161-C-T SLC22A3 c.430-11850C>T - IntronicSNV - 1/10
16-68834156-C-T CDH1 c.164-1417C>T - IntronicSNV - 2/15
16-68834156-C-G CDH1 c.164-1417C>G - IntronicSNV - 2/15
15-48847733-T-A FBN1 c.539-17728A>T - IntronicSNV - 6/65
15-48847733-T-C FBN1 c.539-17728A>G - IntronicSNV - 6/65
16-52548037-A-G TOX3 c.87+32512T>C - IntronicSNV - 1/6
4-95588075-G-A PDLIM5 c.*2857G>A - 3-UTRSNV 13/13 -
7-97957104-T-G BAIAP2L1 c.215-7494A>C - IntronicSNV - 3/13
12-50637295-T-C LIMA1 c.119+5121A>G - IntronicSNV - 2/10
10-123669255-G-A ATE1 c.583+1166C>T - IntronicSNV - 5/11
6-127636823-T-C ECHDC1 c.416+772A>G - IntronicSNV - 4/5
3-128122396-G-A EEFSEC c.1601-4516G>A - IntronicSNV - 6/6
3-27473556-G-C SLC4A7 c.752-396C>G - IntronicSNV - 6/24
16-52548302-C-T TOX3 c.87+32247G>A - IntronicSNV - 1/6
16-68816260-G-C CDH1 c.164-19313G>C - IntronicSNV - 2/15
16-68816260-G-A CDH1 c.164-19313G>A - IntronicSNV - 2/15
15-48883696-T-C FBN1 c.538+4784A>G - IntronicSNV - 6/65
13-95863143-A-G ABCC4 c.532-108T>C - IntronicSNV - 4/30
21-31184827-A-G GRIK1 c.119-118445T>C - IntronicSNV - 1/16
7-97825188-G-A LMTK2 c.4107+1304G>A - IntronicSNV - 11/13
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
15-48827144-T-C FBN1 c.737-742A>G - IntronicSNV - 7/65
16-68728976-C-A CDH3 c.2003-182C>A - IntronicSNV - 13/15
3-127946788-G-C EEFSEC c.317-18891G>C - IntronicSNV - 1/6
3-127946788-G-A EEFSEC c.317-18891G>A - IntronicSNV - 1/6
3-127935461-G-C EEFSEC c.317-30218G>C - IntronicSNV - 1/6
6-151939350-A-C CCDC170 c.*68A>C - 3-UTRSNV 11/11 -
3-169558821-G-A LRRC31 c.1328-720C>T - IntronicSNV - 8/8
3-127935461-G-T EEFSEC c.317-30218G>T - IntronicSNV - 1/6
19-38772481-T-C SPINT2 c.107-6035T>C - IntronicSNV - 1/5
12-50725965-T-C FAM186A c.6697-361A>G - IntronicSNV - 5/7
6-127635285-C-T ECHDC1 c.497+676G>A - IntronicSNV - 5/5
2-20979753-G-C LDAH c.299-5014C>G - IntronicSNV - 3/6
6-127600630-G-A RNF146 c.-348-746G>A - intron_variant - 1/4
3-169528449-C-T LRRC34 c.139+1749G>A - IntronicSNV - 1/9
2-173311553-A-G ITGA6 c.183-18714A>G - IntronicSNV - 1/25
6-160799605-C-T SLC22A3 c.430-19406C>T - IntronicSNV - 1/10
10-123653972-A-G ATE1 c.942+5409T>C - IntronicSNV - 7/11
7-97959214-A-T BAIAP2L1 c.215-9604T>A - IntronicSNV - 3/13
4-95493246-A-G PDLIM5 c.249-1256A>G - IntronicSNV - 3/12
6-41516351-A-G FOXP4 c.-17+1746A>G - intron_variant - 1/16
22-40488127-C-T TNRC6B c.1-33695C>T - IntronicSNV - 1/23
15-48703823-A-G FBN1 c.8227-247T>C - IntronicSNV - 65/65
9-6237547-A-C IL33 c.1-4148A>C - IntronicSNV - 1/7
10-126690383-C-T CTBP2 c.358+1146G>A - IntronicSNV - 5/10
3-128095767-G-A EEFSEC c.1600+18551G>A - IntronicSNV - 6/6
21-31132624-G-T GRIK1 c.119-66242C>A - IntronicSNV - 1/16
7-97959214-A-C BAIAP2L1 c.215-9604T>G - IntronicSNV - 3/13
3-127916551-G-C EEFSEC c.316+43885G>C - IntronicSNV - 1/6
6-41547312-T-C FOXP4 c.300+1493T>C - IntronicSNV - 3/16
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 -
15-48850485-G-T FBN1 c.539-20480C>A - IntronicSNV - 6/65
15-48805637-G-A FBN1 c.1588+109C>T - IntronicSNV - 13/65
21-31145829-C-T GRIK1 c.119-79447G>A - IntronicSNV - 1/16
6-151939560-T-C CCDC170 c.*278T>C - 3-UTRSNV 11/11 -
7-97951886-G-C BAIAP2L1 c.215-2276C>G - IntronicSNV - 3/13
12-50934931-G-A DIP2B c.100+35908G>A - IntronicSNV - 1/37
21-31155268-G-A GRIK1 c.119-88886C>T - IntronicSNV - 1/16
13-95878852-G-A ABCC4 c.531+8012C>T - IntronicSNV - 4/30
15-48728634-C-T FBN1 c.6496+524G>A - IntronicSNV - 53/65
16-68821271-G-C CDH1 c.164-14302G>C - IntronicSNV - 2/15
3-37961376-A-C CTDSPL c.80-27172A>C - IntronicSNV - 1/6
10-123656394-T-A ATE1 c.942+2987A>T - IntronicSNV - 7/11
10-123656394-T-C ATE1 c.942+2987A>G - IntronicSNV - 7/11
17-36096300-A-G HNF1B c.545-2486T>C - IntronicSNV - 2/8
4-95441310-G-A PDLIM5 c.97-3565G>A - IntronicSNV - 2/12
4-95508755-C-T PDLIM5 c.593+1160C>T - IntronicSNV - 7/12
6-160802239-C-T SLC22A3 c.430-16772C>T - IntronicSNV - 1/10
6-160851766-T-G SLC22A3 c.976-6046T>G - IntronicSNV - 5/10
7-28009981-G-A JAZF1 c.188+21547C>T - IntronicSNV - 2/4
10-80846608-T-A ZMIZ1 c.-337+17581T>A - intron_variant - 1/24
3-169493283-C-G MYNN c.266+934C>G - IntronicSNV - 2/7
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
16-68689419-G-A CDH3 c.160+9766G>A - IntronicSNV - 2/15
19-33554109-T-A RHPN2 c.69+1581A>T - IntronicSNV - 1/14
16-68728611-G-A CDH3 c.2003-547G>A - IntronicSNV - 13/15
10-123679684-C-T ATE1 c.233+2180G>A - IntronicSNV - 3/11
4-95527759-C-G PDLIM5 c.594-11396C>G - IntronicSNV - 7/12
13-95865899-C-A ABCC4 c.532-2864G>T - IntronicSNV - 4/30
11-111119694-T-C C11orf53 c.10+3106T>C - intron_variant - 1/4
15-48894908-G-A FBN1 c.347-2477C>T - IntronicSNV - 4/65
4-95505975-C-T PDLIM5 c.384-741C>T - IntronicSNV - 5/12
4-95449752-C-G PDLIM5 c.248+4726C>G - IntronicSNV - 3/12
13-95866467-C-T ABCC4 c.532-3432G>A - IntronicSNV - 4/30
6-41552040-T-C FOXP4 c.301-467T>C - IntronicSNV - 3/16
7-97944744-G-T BAIAP2L1 c.639+28C>A - IntronicSNV - 7/13
10-123619877-C-T ATE1 c.975+9644G>A - IntronicSNV - 8/11
16-68721340-G-A CDH3 c.1571-75G>A - IntronicSNV - 11/15
19-38765072-C-T SPINT2 c.106+9434C>T - IntronicSNV - 1/5
10-123726201-A-T NSMCE4A c.653+969T>A - IntronicSNV - 4/10
10-123726201-A-C NSMCE4A c.653+969T>G - IntronicSNV - 4/10
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
3-169552381-A-G LRRIQ4 c.1530+1410A>G - IntronicSNV - 4/4
15-48734445-C-G FBN1 c.6038-402G>C - IntronicSNV - 49/65
5-56120646-G-C MAP3K1 c.482+8764G>C - IntronicSNV - 1/19
5-56120646-G-A MAP3K1 c.482+8764G>A - IntronicSNV - 1/19
12-50636364-A-G LIMA1 c.119+6052T>C - IntronicSNV - 2/10
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
17-48273155-A-C COL1A1 c.1056+129T>G - IntronicSNV - 16/50
10-123658129-A-T ATE1 c.942+1252T>A - IntronicSNV - 7/11
2-20884586-G-C LDAH c.*2077C>G - IntergenicSNV 7/7 -
6-117231616-A-T RFX6 c.673-482A>T - IntronicSNV - 6/18
3-128059610-G-A EEFSEC c.787-466G>A - IntronicSNV - 4/6
3-169559234-G-A LRRC31 c.1328-1133C>T - IntronicSNV - 8/8
7-97944744-G-C BAIAP2L1 c.639+28C>G - IntronicSNV - 7/13
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
7-97746387-G-A LMTK2 c.103+9795G>A - IntronicSNV - 1/13
3-128046643-G-A EEFSEC c.787-13433G>A - IntronicSNV - 4/6
10-123666459-C-T ATE1 c.583+3962G>A - IntronicSNV - 5/11
10-123666459-C-A ATE1 c.583+3962G>T - IntronicSNV - 5/11
7-97816638-G-C LMTK2 c.998+328G>C - IntronicSNV - 9/13
5-83003535-G-A HAPLN1 c.-27+13073C>T - intron_variant - 1/4
15-48775793-C-T FBN1 c.3838+222G>A - IntronicSNV - 31/65
12-51089287-G-T DIP2B c.1813+144G>T - IntronicSNV - 15/37
10-123594941-A-G ATE1 c.1257+1292T>C - IntronicSNV - 10/11
10-123624175-T-C ATE1 c.975+5346A>G - IntronicSNV - 8/11
6-127607026-T-A RNF146 c.1-736T>A - IntronicSNV - 3/4
6-127607026-T-C RNF146 c.1-736T>C - IntronicSNV - 3/4
15-48734624-G-A FBN1 c.6038-581C>T - IntronicSNV - 49/65
7-97922851-C-T BAIAP2L1 c.1518G>A p.Ser506Ser Synonymous 14/14 -
22-40452119-T-C TNRC6B c.-121+11117T>C - intron_variant - 1/23
4-106148758-G-C TET2 c.1-6342G>C - IntronicSNV - 2/2
5-56175566-C-G MAP3K1 c.2087+638C>G - IntronicSNV - 11/19
4-106148758-G-A TET2 c.1-6342G>A - IntronicSNV - 2/2
15-48710468-A-T FBN1 c.7819+2416T>A - IntronicSNV - 63/65
3-169570241-A-C LRRC31 c.992-667T>G - IntronicSNV - 6/8
6-160774486-C-A SLC22A3 c.429+4606C>A - IntronicSNV - 1/10
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 -
4-95521863-G-A PDLIM5 c.593+14268G>A - IntronicSNV - 7/12
15-48891965-C-T FBN1 c.442+371G>A - IntronicSNV - 5/65
5-56125904-T-C MAP3K1 c.482+14022T>C - IntronicSNV - 1/19
11-111140043-C-T C11orf53 c.121-12080C>T - intron_variant - 2/4
12-50946955-A-G DIP2B c.100+47932A>G - IntronicSNV - 1/37
19-38746567-C-G PPP1R14A c.201+212G>C - IntronicSNV - 1/3
6-160774486-C-T SLC22A3 c.429+4606C>T - IntronicSNV - 1/10
3-169522387-G-C LRRC34 c.529-418C>G - IntronicSNV - 5/9
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
15-48907181-C-T FBN1 c.165-1892G>A - IntronicSNV - 2/65
6-41533579-C-A FOXP4 c.81C>A p.Ala27Ala Synonymous 2/17 -
7-97960664-G-A BAIAP2L1 c.215-11054C>T - IntronicSNV - 3/13
8-23538008-C-A NKX3-1 c.*726G>T - 3-UTRSNV 3/3 -
8-23538008-C-T NKX3-1 c.*726G>A - 3-UTRSNV 3/3 -
12-51190606-C-T ATF1 c.194+814C>T - IntronicSNV - 3/6
6-151940260-A-G CCDC170 c.*978A>G - 3-UTRSNV 11/11 -
6-160807432-C-A SLC22A3 c.430-11579C>A - IntronicSNV - 1/10
3-169545652-G-T LRRIQ4 c.1021-895G>T - IntronicSNV - 1/4
3-169545652-G-A LRRIQ4 c.1021-895G>A - IntronicSNV - 1/4
15-48734624-G-T FBN1 c.6038-581C>A - IntronicSNV - 49/65
13-95872515-A-T ABCC4 c.532-9480T>A - IntronicSNV - 4/30
15-48839065-G-A FBN1 c.539-9060C>T - IntronicSNV - 6/65
5-10464107-C-T ROPN1L c.594-853C>T - IntronicSNV - 4/4
15-48702457-C-A FBN1 c.*730G>T - 3-UTRSNV 66/66 -
6-51676999-C-A PKHD1 c.8302+18660G>T - IntronicSNV - 52/66
7-27992390-T-C JAZF1 c.188+39138A>G - IntronicSNV - 2/4
3-37955247-G-A CTDSPL c.80-33301G>A - IntronicSNV - 1/6
10-123733962-C-T NSMCE4A c.293-366G>A - IntronicSNV - 1/10
10-123592061-G-A ATE1 c.1257+4172C>T - IntronicSNV - 10/11
13-95837662-T-C ABCC4 c.1545+1293A>G - IntronicSNV - 11/30
16-68727130-A-T CDH3 c.2002+1301A>T - IntronicSNV - 13/15
7-97945115-C-T BAIAP2L1 c.487-191G>A - IntronicSNV - 6/13
7-27962929-T-C JAZF1 c.189-27894A>G - IntronicSNV - 2/4
15-48852492-A-G FBN1 c.539-22487T>C - IntronicSNV - 6/65
7-97784367-G-A LMTK2 c.569+179G>A - IntronicSNV - 5/13
4-106115450-G-T TET2 c.-47+3788G>T - intron_variant - 2/2
16-68804068-G-A CDH1 c.164-31505G>A - IntronicSNV - 2/15
4-95509763-A-G PDLIM5 c.593+2168A>G - IntronicSNV - 7/12
15-48864797-C-G FBN1 c.538+23683G>C - IntronicSNV - 6/65
21-31152048-G-C GRIK1 c.119-85666C>G - IntronicSNV - 1/16
7-98000929-C-T BAIAP2L1 c.52-9185G>A - IntronicSNV - 1/13
17-48274309-T-A COL1A1 c.804+62A>T - IntronicSNV - 11/50
17-48274309-T-C COL1A1 c.804+62A>G - IntronicSNV - 11/50
15-48852492-A-T FBN1 c.539-22487T>A - IntronicSNV - 6/65
7-97762474-C-T LMTK2 c.104-4153C>T - IntronicSNV - 1/13
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
10-126697086-G-A CTBP2 c.59-5025C>T - IntronicSNV - 3/10
7-97915902-C-T BRI3 c.245+4137C>T - IntronicSNV - 2/2
15-48799381-T-A FBN1 c.1837+1398A>T - IntronicSNV - 15/65
10-123596823-T-G ATE1 c.1158-491A>C - IntronicSNV - 9/11
15-48729648-T-C FBN1 c.6314-64A>G - IntronicSNV - 51/65
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
11-111120698-C-G C11orf53 c.10+4110C>G - intron_variant - 1/4
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
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 -
4-95587587-T-C PDLIM5 c.*2369T>C - 3-UTRSNV 13/13 -
6-117244676-T-C RFX6 c.1555+289T>C - IntronicSNV - 14/18
4-95438714-C-T PDLIM5 c.97-6161C>T - IntronicSNV - 2/12
3-37966079-G-A CTDSPL c.80-22469G>A - IntronicSNV - 1/6
13-95879441-A-C ABCC4 c.531+7423T>G - IntronicSNV - 4/30
6-151936214-C-G CCDC170 c.1711-364C>G - IntronicSNV - 9/10
2-20985528-C-T LDAH c.298+4487G>A - IntronicSNV - 3/6
13-95879441-A-T ABCC4 c.531+7423T>A - IntronicSNV - 4/30
21-31179134-C-T GRIK1 c.119-112752G>A - IntronicSNV - 1/16
3-128114587-T-C EEFSEC c.1601-12325T>C - IntronicSNV - 6/6
6-160872151-C-T SLC22A3 c.*63C>T - 3-UTRSNV 11/11 -
12-50764711-G-A FAM186A c.193-7564C>T - IntronicSNV - 1/7
13-95858135-G-A ABCC4 c.1161+651C>T - IntronicSNV - 8/30
7-97772658-C-T LMTK2 c.376+1805C>T - IntronicSNV - 3/13
22-40507282-T-C TNRC6B c.-120-5777T>C - intron_variant - 1/23
4-95472630-C-T PDLIM5 c.249-21872C>T - IntronicSNV - 3/12
3-127930866-C-A EEFSEC c.317-34813C>A - IntronicSNV - 1/6
3-127907929-A-G EEFSEC c.316+35263A>G - IntronicSNV - 1/6
11-1888614-C-T LSP1 c.54-12703C>T - IntronicSNV - 1/10
11-111125512-G-A C11orf53 c.11-1196G>A - intron_variant - 1/4
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
15-48736684-A-T FBN1 c.6037+54T>A - IntronicSNV - 49/65
10-123641704-G-A ATE1 c.943-12151C>T - IntronicSNV - 7/11
4-95580441-T-C PDLIM5 c.1258+1743T>C - IntronicSNV - 11/12
4-95424226-G-A PDLIM5 c.97-20649G>A - IntronicSNV - 2/12
5-44814597-A-C MRPS30 c.1031-418A>C - IntronicSNV - 4/4
3-27471831-A-C SLC4A7 c.1123+958T>G - IntronicSNV - 7/24
7-97741795-C-A LMTK2 c.103+5203C>A - IntronicSNV - 1/13
6-117218479-C-A RFX6 c.672+2109C>A - IntronicSNV - 6/18
4-106128760-G-A TET2 c.-47+17098G>A - intron_variant - 2/2
6-51549912-G-A PKHD1 c.10157-25145C>T - IntronicSNV - 60/66
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
2-20878153-T-C GDF7 c.*6968T>C - IntergenicSNV 2/2 -
10-123645710-T-C ATE1 c.942+13671A>G - IntronicSNV - 7/11
6-41558443-A-G FOXP4 c.1395+358A>G - IntronicSNV - 12/16
12-50723993-A-G FAM186A c.7034+363T>C - IntronicSNV - 7/7
10-126688200-C-T CTBP2 c.359-1461G>A - IntronicSNV - 5/10
3-87280088-C-T CHMP2B c.34+3382C>T - 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
15-48905816-T-C FBN1 c.165-527A>G - IntronicSNV - 2/65
15-48812020-A-T FBN1 c.1147+836T>A - IntronicSNV - 10/65
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
6-127649350-C-T ECHDC1 c.221-1061G>A - IntronicSNV - 2/5
15-48742841-T-C FBN1 c.5546-1751A>G - IntronicSNV - 45/65
19-17448660-T-C GTPBP3 c.54-157T>C - IntronicSNV - 1/8
3-127918955-C-T EEFSEC c.316+46289C>T - IntronicSNV - 1/6
6-117249558-C-T RFX6 c.2399-364C>T - IntronicSNV - 17/18
19-38759180-T-C SPINT2 c.106+3542T>C - IntronicSNV - 1/5
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-G FBN1 c.1147+836T>C - IntronicSNV - 10/65
6-160827670-C-T SLC22A3 c.534-403C>T - IntronicSNV - 2/10
15-48742841-T-G FBN1 c.5546-1751A>C - IntronicSNV - 45/65
5-56143419-T-C MAP3K1 c.483-9008T>C - IntronicSNV - 1/19
12-50641572-C-A LIMA1 c.119+844G>T - IntronicSNV - 2/10
15-48763268-C-T FBN1 c.4337-315G>A - IntronicSNV - 35/65
16-68804342-T-C CDH1 c.164-31231T>C - IntronicSNV - 2/15
15-48821742-C-G FBN1 c.863-3290G>C - IntronicSNV - 8/65
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
4-95440721-C-T PDLIM5 c.97-4154C>T - IntronicSNV - 2/12
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
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-G ANKRD16 c.*34-264G>C - intron_variant - 7/7
7-27977363-T-C JAZF1 c.189-42328A>G - IntronicSNV - 2/4
5-56125904-T-A MAP3K1 c.482+14022T>A - IntronicSNV - 1/19
10-5904918-C-T ANKRD16 c.*34-264G>A - intron_variant - 7/7
15-48760897-G-A FBN1 c.4460-166C>T - IntronicSNV - 36/65
20-60962624-T-C RPS21 c.51-43T>C - IntronicSNV - 2/5
15-48870456-C-T FBN1 c.538+18024G>A - IntronicSNV - 6/65
20-60937597-A-G LAMA5 c.309T>C p.Cys103Cys Synonymous 2/80 -
17-48269903-A-G COL1A1 c.1930-14T>C - IntronicSNV - 28/50
6-51638877-T-C PKHD1 c.8555-1290A>G - IntronicSNV - 54/66
12-50754563-T-G FAM186A c.559A>C p.Lys187Gln Missense 3/8 -
12-51074199-T-C DIP2B c.1115-256T>C - IntronicSNV - 8/37
18-46454048-A-G SMAD7 c.743-5768T>C - IntronicSNV - 3/3
3-27487705-C-T SLC4A7 c.262+2437G>A - IntronicSNV - 3/24
2-63059927-G-A EHBP1 c.634+1634G>A - IntronicSNV - 7/24
16-74485788-C-T GLG1 c.*166G>A - 3-UTRSNV 27/27 -
10-123733955-A-G NSMCE4A c.293-359T>C - IntronicSNV - 1/10
21-31177511-A-G GRIK1 c.119-111129T>C - IntronicSNV - 1/16
8-23538533-A-T NKX3-1 c.*201T>A - 3-UTRSNV 3/3 -
15-48926002-G-A FBN1 c.164+10801C>T - IntronicSNV - 2/65
7-97929738-A-G BAIAP2L1 c.1422+3770T>C - IntronicSNV - 12/13
7-97929738-A-C BAIAP2L1 c.1422+3770T>G - IntronicSNV - 12/13
10-123340311-C-A FGFR2 c.109+12912G>T - IntronicSNV - 2/17
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
5-56224339-G-T MIER3 c.921+255C>A - IntronicSNV - 10/12
10-80846814-C-T ZMIZ1 c.-337+17787C>T - intron_variant - 1/24
10-5905231-T-C ANKRD16 c.*34-577A>G - intron_variant - 7/7
20-60927412-G-A LAMA5 c.573C>T p.Ser191Ser Synonymous 4/80 -
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
5-82973210-C-A HAPLN1 c.1-3868G>T - IntronicSNV - 1/4
3-128036786-C-T EEFSEC c.787-23290C>T - IntronicSNV - 4/6
15-48701029-C-T FBN1 c.*2158G>A - 3-UTRSNV 66/66 -
3-127892037-T-C EEFSEC c.316+19371T>C - IntronicSNV - 1/6
11-1945884-G-A TNNT3 c.50-445G>A - IntronicSNV - 4/15
7-97983774-C-T BAIAP2L1 c.214+580G>A - IntronicSNV - 3/13
6-117217382-C-G RFX6 c.672+1012C>G - IntronicSNV - 6/18
6-151936677-G-A CCDC170 c.1810G>A p.Val604Ile Missense 10/11 -
6-117217382-C-T RFX6 c.672+1012C>T - IntronicSNV - 6/18
16-68815000-C-T CDH1 c.164-20573C>T - IntronicSNV - 2/15
10-123354726-T-G FGFR2 c.1-1395A>C - IntronicSNV - 1/17
16-68716179-T-C CDH3 c.997-26T>C - IntronicSNV - 8/15
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 -
3-127991149-C-G EEFSEC c.786+7525C>G - IntronicSNV - 4/6
16-68801077-A-T CDH1 c.163+28763A>T - IntronicSNV - 2/15
4-95586279-T-G PDLIM5 c.*1061T>G - 3-UTRSNV 13/13 -
14-54418411-G-A BMP4 c.370+160C>T - IntronicSNV - 3/3
7-97826232-G-A LMTK2 c.4107+2348G>A - IntronicSNV - 11/13
4-95458942-G-T PDLIM5 c.248+13916G>T - IntronicSNV - 3/12
11-1912726-A-G LSP1 c.*14-277A>G - intron_variant - 10/10
5-45285752-A-G HCN1 c.1618+17949T>C - IntronicSNV - 6/7
4-95559083-G-A PDLIM5 c.782-2344G>A - IntronicSNV - 8/12
10-123649649-A-G ATE1 c.942+9732T>C - IntronicSNV - 7/11
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
16-68818245-T-G CDH1 c.164-17328T>G - IntronicSNV - 2/15
6-160842537-T-G SLC22A3 c.975+10659T>G - IntronicSNV - 5/10
6-160842537-T-C SLC22A3 c.975+10659T>C - IntronicSNV - 5/10
4-95579800-G-A PDLIM5 c.1258+1102G>A - IntronicSNV - 11/12
3-27432206-T-C SLC4A7 c.3160-611A>G - IntronicSNV - 21/24
6-127655614-G-C ECHDC1 c.1-3441C>G - IntronicSNV - 1/5
4-106151843-T-C TET2 c.1-3257T>C - IntronicSNV - 2/2
10-123644345-G-A ATE1 c.943-14792C>T - IntronicSNV - 7/11
5-10463797-A-G ROPN1L c.594-1163A>G - IntronicSNV - 4/4
20-60920700-T-C LAMA5 c.1477+174A>G - IntronicSNV - 11/79
4-106140501-G-T TET2 c.1-14599G>T - IntronicSNV - 2/2
16-68706933-A-G CDH3 c.161-3355A>G - IntronicSNV - 2/15
12-50746917-A-G FAM186A c.3698T>C p.Leu1233Pro Missense 4/8 -
4-106152984-T-C TET2 c.1-2116T>C - IntronicSNV - 2/2
15-48910591-A-G FBN1 c.165-5302T>C - IntronicSNV - 2/65
15-48714838-T-G FBN1 c.7454-573A>C - IntronicSNV - 60/65
3-169553498-G-T LRRIQ4 c.1531-1769G>T - IntronicSNV - 4/4
7-97859060-C-G TECPR1 c.2283-582G>C - IntronicSNV - 15/25
13-95875614-T-A ABCC4 c.531+11250A>T - IntronicSNV - 4/30
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-C ABCC4 c.531+11250A>G - IntronicSNV - 4/30
4-106144735-A-C TET2 c.1-10365A>C - IntronicSNV - 2/2
16-68710737-T-C CDH3 c.246+364T>C - IntronicSNV - 3/15
15-48798708-C-T FBN1 c.1838-1364G>A - IntronicSNV - 15/65
16-68710737-T-G CDH3 c.246+364T>G - IntronicSNV - 3/15
6-160840252-G-T SLC22A3 c.975+8374G>T - IntronicSNV - 5/10
15-48864001-T-C FBN1 c.538+24479A>G - IntronicSNV - 6/65
6-117248218-T-C RFX6 c.1914T>C p.Gly638Gly Synonymous 17/19 -
15-48896086-T-A FBN1 c.347-3655A>T - IntronicSNV - 4/65
3-127942379-A-G EEFSEC c.317-23300A>G - IntronicSNV - 1/6
6-51634964-G-A PKHD1 c.8642+2536C>T - IntronicSNV - 55/66
6-51666631-T-C PKHD1 c.8303-10460A>G - IntronicSNV - 52/66
4-95441592-C-G PDLIM5 c.97-3283C>G - IntronicSNV - 2/12
7-97922851-C-A BAIAP2L1 c.1518G>T p.Ser506Ser Synonymous 14/14 -
10-126695847-G-A CTBP2 c.59-3786C>T - IntronicSNV - 3/10
6-160776325-A-G SLC22A3 c.429+6445A>G - IntronicSNV - 1/10
21-31129999-C-T GRIK1 c.119-63617G>A - IntronicSNV - 1/16
6-117247907-A-C RFX6 c.1886-283A>C - IntronicSNV - 16/18
6-160791370-C-G SLC22A3 c.429+21490C>G - IntronicSNV - 1/10
15-48779402-C-T FBN1 c.3464-5G>A - IntronicSNV - 28/65
3-37972794-T-A CTDSPL c.80-15754T>A - IntronicSNV - 1/6
6-160872652-G-A SLC22A3 c.*564G>A - 3-UTRSNV 11/11 -
6-41568064-G-A FOXP4 c.*1390G>A - 3-UTRSNV 17/17 -
4-95441592-C-T PDLIM5 c.97-3283C>T - IntronicSNV - 2/12
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
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 -
10-123600590-A-G ATE1 c.1157+7T>C - IntronicSNV - 9/11
10-123650931-A-G ATE1 c.942+8450T>C - IntronicSNV - 7/11
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
16-68829021-C-T CDH1 c.164-6552C>T - IntronicSNV - 2/15
10-123645887-C-T ATE1 c.942+13494G>A - IntronicSNV - 7/11
3-128092102-A-G EEFSEC c.1600+14886A>G - IntronicSNV - 6/6
5-56206073-G-T SETD9 c.98+503G>T - IntronicSNV - 1/5
10-5916771-C-T ANKRD16 c.*3322G>A - IntronicSNV - 7/7
10-123648057-G-C ATE1 c.942+11324C>G - IntronicSNV - 7/11
18-46453156-A-T SMAD7 c.743-4876T>A - IntronicSNV - 3/3
6-41557117-A-C FOXP4 c.1063-392A>C - IntronicSNV - 9/16
11-111133005-C-T C11orf53 c.120+6188C>T - intron_variant - 2/4
6-151939627-G-A CCDC170 c.*345G>A - 3-UTRSNV 11/11 -
15-48819502-G-A FBN1 c.863-1050C>T - IntronicSNV - 8/65
2-63213970-T-C EHBP1 c.2714-1096T>C - IntronicSNV - 16/24
16-68837496-A-G CDH1 c.387+1700A>G - IntronicSNV - 3/15
10-123725466-G-T NSMCE4A c.654-566C>A - IntronicSNV - 4/10
5-56190986-A-G MAP3K1 c.*1479A>G - 3-UTRSNV 20/20 -
16-68814590-T-C CDH1 c.164-20983T>C - 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
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
10-80852602-G-C ZMIZ1 c.-337+23575G>C - intron_variant - 1/24
10-80852602-G-A ZMIZ1 c.-337+23575G>A - intron_variant - 1/24
16-52555002-G-A TOX3 c.87+25547C>T - IntronicSNV - 1/6
16-52555002-G-C TOX3 c.87+25547C>G - IntronicSNV - 1/6
5-56172778-G-A MAP3K1 c.1965+1641G>A - IntronicSNV - 10/19
5-56235548-C-T MIER3 c.181-704G>A - IntronicSNV - 3/12
16-52539597-A-G TOX3 c.88-37111T>C - IntronicSNV - 1/6
7-27983781-C-T JAZF1 c.188+47747G>A - IntronicSNV - 2/4
16-68814948-T-A CDH1 c.164-20625T>A - IntronicSNV - 2/15
15-48843598-C-T FBN1 c.539-13593G>A - IntronicSNV - 6/65
13-95889241-C-A ABCC4 c.307-2153G>T - IntronicSNV - 3/30
4-95453777-T-G PDLIM5 c.248+8751T>G - IntronicSNV - 3/12
18-46453929-C-T SMAD7 c.743-5649G>A - IntronicSNV - 3/3
5-83007311-C-T HAPLN1 c.-27+9297G>A - intron_variant - 1/4
9-6237547-A-G IL33 c.1-4148A>G - IntronicSNV - 1/7
4-95503578-T-C PDLIM5 c.384-3138T>C - IntronicSNV - 5/12
6-160810720-C-T SLC22A3 c.430-8291C>T - IntronicSNV - 1/10
6-117252247-C-T RFX6 c.2612-247C>T - IntronicSNV - 18/18
17-36096515-T-C HNF1B c.545-2701A>G - IntronicSNV - 2/8
17-36096515-T-G HNF1B c.545-2701A>C - IntronicSNV - 2/8
5-10459751-G-T ROPN1L c.418-1545G>T - IntronicSNV - 3/4
22-40455378-T-A TNRC6B c.-121+14376T>A - intron_variant - 1/23
3-27427225-A-G SLC4A7 c.3465+158T>C - IntronicSNV - 23/24
15-48753624-C-T FBN1 c.5225-1110G>A - IntronicSNV - 42/65
16-68727130-A-C CDH3 c.2002+1301A>C - IntronicSNV - 13/15
16-68778457-C-T CDH1 c.163+6143C>T - IntronicSNV - 2/15
7-97853795-G-T TECPR1 c.2690+318C>A - IntronicSNV - 19/25
12-51202862-A-G ATF1 c.195-377A>G - IntronicSNV - 3/6
2-43501802-G-A THADA c.5296+5102C>T - IntronicSNV - 36/37
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
12-50940983-T-G DIP2B c.100+41960T>G - IntronicSNV - 1/37
21-31185292-A-G GRIK1 c.119-118910T>C - IntronicSNV - 1/16
13-95861981-C-G ABCC4 c.622-130G>C - IntronicSNV - 5/30
16-68713730-G-A CDH3 c.720G>A p.Thr240Thr Synonymous 7/16 -
10-123658595-C-T ATE1 c.942+786G>A - IntronicSNV - 7/11
6-41538545-T-C FOXP4 c.204+4843T>C - IntronicSNV - 2/16
10-123716888-T-G NSMCE4A c.*13-114A>C - intron_variant - 10/10
3-87279318-C-A CHMP2B c.34+2612C>A - IntronicSNV - 1/5
3-87279318-C-G CHMP2B c.34+2612C>G - IntronicSNV - 1/5
15-48771419-C-G FBN1 c.3964+2433G>C - IntronicSNV - 32/65
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
15-48754122-G-T FBN1 c.5224+1157C>A - IntronicSNV - 42/65
13-95866778-A-C ABCC4 c.532-3743T>G - IntronicSNV - 4/30
5-10448978-C-A ROPN1L c.255+483C>A - IntronicSNV - 2/4
16-52558907-C-A TOX3 c.87+21642G>T - IntronicSNV - 1/6
12-50763415-G-A FAM186A c.193-6268C>T - IntronicSNV - 1/7
15-48795877-G-A FBN1 c.2113+107C>T - IntronicSNV - 17/65
12-50763415-G-T FAM186A c.193-6268C>A - IntronicSNV - 1/7
6-127655485-C-T ECHDC1 c.1-3312G>A - IntronicSNV - 1/5
19-52380681-T-A ZNF577 c.188-51A>T - IntronicSNV - 5/6
17-48274291-T-A COL1A1 c.804+80A>T - IntronicSNV - 11/50
17-48274291-T-G COL1A1 c.804+80A>C - IntronicSNV - 11/50
3-169558373-G-A LRRC31 c.1328-272C>T - IntronicSNV - 8/8
3-169558373-G-C LRRC31 c.1328-272C>G - IntronicSNV - 8/8
7-97807882-C-T LMTK2 c.792-6481C>T - IntronicSNV - 7/13
16-68822599-G-A CDH1 c.164-12974G>A - IntronicSNV - 2/15
19-17371568-T-C USHBP1 c.643-737A>G - IntronicSNV - 4/12
12-50964106-C-T DIP2B c.101-55653C>T - IntronicSNV - 1/37
6-127636733-A-G ECHDC1 c.417-692T>C - IntronicSNV - 4/5
15-48931451-T-A FBN1 c.164+5352A>T - IntronicSNV - 2/65
12-51064064-A-G DIP2B c.428-905A>G - IntronicSNV - 4/37
7-97792576-G-A LMTK2 c.657+3839G>A - IntronicSNV - 6/13
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
7-97792820-G-A LMTK2 c.657+4083G>A - IntronicSNV - 6/13
3-27492150-G-A SLC4A7 c.115+1758C>T - IntronicSNV - 2/24
7-97762474-C-G LMTK2 c.104-4153C>G - IntronicSNV - 1/13
15-48755168-T-C FBN1 c.5224+111A>G - IntronicSNV - 42/65
4-95562682-C-T PDLIM5 c.956+1081C>T - IntronicSNV - 9/12
21-31189387-A-G GRIK1 c.118+122314T>C - IntronicSNV - 1/16
21-31181420-A-G GRIK1 c.119-115038T>C - IntronicSNV - 1/16
15-48740097-C-T FBN1 c.5671+868G>A - IntronicSNV - 46/65
6-117222162-T-G RFX6 c.672+5792T>G - IntronicSNV - 6/18
10-126696496-T-C CTBP2 c.59-4435A>G - IntronicSNV - 3/10
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
6-117242021-T-A RFX6 c.1327+404T>A - IntronicSNV - 12/18
22-40505863-T-A TNRC6B c.-120-7196T>A - intron_variant - 1/23
7-97992095-C-T BAIAP2L1 c.52-351G>A - IntronicSNV - 1/13
7-97992095-C-G BAIAP2L1 c.52-351G>C - IntronicSNV - 1/13
16-52566454-T-G TOX3 c.87+14095A>C - IntronicSNV - 1/6
16-52566454-T-A TOX3 c.87+14095A>T - IntronicSNV - 1/6
3-169566247-T-C LRRC31 c.1160-172A>G - IntronicSNV - 7/8
7-27975745-C-T JAZF1 c.189-40710G>A - IntronicSNV - 2/4
20-60918087-G-C LAMA5 c.1477+2787C>G - IntronicSNV - 11/79
13-95862896-A-G ABCC4 c.621+50T>C - IntronicSNV - 5/30
13-95862896-A-C ABCC4 c.621+50T>G - IntronicSNV - 5/30
7-97944986-G-A BAIAP2L1 c.487-62C>T - IntronicSNV - 6/13
7-97857675-T-C TECPR1 c.2411-247A>G - IntronicSNV - 16/25
6-51540062-T-G PKHD1 c.10157-15295A>C - IntronicSNV - 60/66
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
3-37965193-A-G CTDSPL c.80-23355A>G - IntronicSNV - 1/6
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
3-37969439-T-C CTDSPL c.80-19109T>C - IntronicSNV - 1/6
7-97865458-T-C TECPR1 c.1181+630A>G - IntronicSNV - 10/25
7-97786282-G-A LMTK2 c.569+2094G>A - IntronicSNV - 5/13
15-48845722-G-A FBN1 c.539-15717C>T - IntronicSNV - 6/65
22-40505863-T-G TNRC6B c.-120-7196T>G - intron_variant - 1/23
5-56177443-G-A MAP3K1 c.2416G>A p.Asp806Asn Missense 14/20 -
6-151924607-T-A CCDC170 c.1710+6895T>A - IntronicSNV - 9/10
22-40504116-C-T TNRC6B c.1-17706C>T - IntronicSNV - 1/23
3-127934774-C-A EEFSEC c.317-30905C>A - IntronicSNV - 1/6
6-117239086-A-G RFX6 c.973-114A>G - IntronicSNV - 9/18
7-27958773-T-G JAZF1 c.189-23738A>C - IntronicSNV - 2/4
4-95452228-A-T PDLIM5 c.248+7202A>T - IntronicSNV - 3/12
3-27445430-G-A SLC4A7 c.2049-555C>T - IntronicSNV - 14/24
12-50665227-T-C LIMA1 c.-24+11976A>G - intron_variant - 1/10
4-95452228-A-G PDLIM5 c.248+7202A>G - IntronicSNV - 3/12
10-126650696-A-G ZRANB1 c.815-4467A>G - IntronicSNV - 1/8
15-48732692-A-G FBN1 c.6163+1226T>C - IntronicSNV - 50/65
6-117251887-A-G RFX6 c.2612-607A>G - IntronicSNV - 18/18
3-169514585-A-T LRRC34 c.760T>A p.Leu254Ile Missense 7/10 -
10-123661663-C-G ATE1 c.813+243G>C - IntronicSNV - 6/11
3-169565571-T-C LRRC31 c.1327+337A>G - IntronicSNV - 8/8
6-160775578-G-T SLC22A3 c.429+5698G>T - IntronicSNV - 1/10
5-82985576-T-G HAPLN1 c.1-16234A>C - IntronicSNV - 1/4
12-50744171-T-C FAM186A c.6444A>G p.Thr2148Thr Synonymous 4/8 -
12-50744171-T-A FAM186A c.6444A>T p.Thr2148Thr Synonymous 4/8 -
20-60899206-C-G LAMA5 c.5698G>C p.Val1900Leu Missense 43/80 -
12-50744171-T-G FAM186A c.6444A>C p.Thr2148Thr Synonymous 4/8 -
20-60899206-C-T LAMA5 c.5698G>A p.Val1900Met Missense 43/80 -
21-31166664-T-A GRIK1 c.119-100282A>T - IntronicSNV - 1/16
4-95574211-C-T PDLIM5 c.957-1400C>T - IntronicSNV - 9/12
3-127934329-T-G EEFSEC c.317-31350T>G - IntronicSNV - 1/6
2-20977533-T-A LDAH c.299-2794A>T - IntronicSNV - 3/6
2-20977533-T-C LDAH c.299-2794A>G - IntronicSNV - 3/6
6-41550172-C-A FOXP4 c.301-2335C>A - IntronicSNV - 3/16
4-95484001-G-C PDLIM5 c.249-10501G>C - IntronicSNV - 3/12
18-46448805-T-C SMAD7 c.743-525A>G - IntronicSNV - 3/3
10-126697210-T-C CTBP2 c.59-5149A>G - IntronicSNV - 3/10
3-27444524-G-C SLC4A7 c.2294+106C>G - IntronicSNV - 15/24
6-127646649-G-C ECHDC1 c.363+1498C>G - IntronicSNV - 3/5
13-95863505-A-G ABCC4 c.532-470T>C - IntronicSNV - 4/30
16-68821126-C-T CDH1 c.164-14447C>T - IntronicSNV - 2/15
12-51089734-T-C DIP2B c.1917T>C p.Thr639Thr Synonymous 16/38 -
12-51089734-T-A DIP2B c.1917T>A p.Thr639Thr Synonymous 16/38 -
16-54032493-A-G FTO c.1364+64472A>G - IntronicSNV - 8/8
3-128038689-C-A EEFSEC c.787-21387C>A - IntronicSNV - 4/6
3-169524862-A-C LRRC34 c.445-143T>G - IntronicSNV - 4/9
15-48720271-C-T FBN1 c.6997+272G>A - IntronicSNV - 57/65
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
3-127931402-A-G EEFSEC c.317-34277A>G - IntronicSNV - 1/6
15-48759291-G-T FBN1 c.4747+844C>A - IntronicSNV - 38/65
3-169558711-T-A LRRC31 c.1328-610A>T - IntronicSNV - 8/8
15-48713996-G-C FBN1 c.7571-113C>G - IntronicSNV - 61/65
3-37993376-T-G CTDSPL c.234+4674T>G - IntronicSNV - 2/6
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
3-127934329-T-C EEFSEC c.317-31350T>C - IntronicSNV - 1/6
16-52571436-A-C TOX3 c.87+9113T>G - IntronicSNV - 1/6
10-123662780-C-A ATE1 c.584-645G>T - IntronicSNV - 5/11
10-123662780-C-T ATE1 c.584-645G>A - IntronicSNV - 5/11
20-60912117-C-T LAMA5 c.2165-275G>A - IntronicSNV - 16/79
13-95878407-T-C ABCC4 c.531+8457A>G - IntronicSNV - 4/30
10-123674629-C-T ATE1 c.234-1221G>A - IntronicSNV - 3/11
16-52536885-C-T TOX3 c.88-34399G>A - IntronicSNV - 1/6
3-169554129-G-A LRRIQ4 c.1531-1138G>A - IntronicSNV - 4/4
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
4-95444407-G-T PDLIM5 c.97-468G>T - IntronicSNV - 2/12
21-31189792-T-C GRIK1 c.118+121909A>G - IntronicSNV - 1/16
7-28028227-G-A JAZF1 c.188+3301C>T - IntronicSNV - 2/4
5-82985739-T-G HAPLN1 c.1-16397A>C - IntronicSNV - 1/4
4-95453735-C-T PDLIM5 c.248+8709C>T - IntronicSNV - 3/12
19-17423373-G-T DDA1 c.4-1459G>T - IntronicSNV - 1/4
3-27451106-G-C SLC4A7 c.1740-85C>G - IntronicSNV - 12/24
15-48783269-G-C FBN1 c.2855-994C>G - IntronicSNV - 24/65
15-48783269-G-A FBN1 c.2855-994C>T - IntronicSNV - 24/65
17-48261852-A-G COL1A1 c.*1011T>C - 3-UTRSNV 51/51 -
11-1912296-A-G LSP1 c.*14-707A>G - intron_variant - 10/10
15-48805096-C-T FBN1 c.1588+650G>A - IntronicSNV - 13/65
3-169518455-T-G LRRC34 c.657+3386A>C - IntronicSNV - 6/9
16-68818903-T-A CDH1 c.164-16670T>A - IntronicSNV - 2/15
4-95577290-T-C PDLIM5 c.1138-1288T>C - IntronicSNV - 10/12
3-127961396-A-T EEFSEC c.317-4283A>T - IntronicSNV - 1/6
4-106123582-G-C TET2 c.-47+11920G>C - intron_variant - 2/2
6-160782662-A-T SLC22A3 c.429+12782A>T - IntronicSNV - 1/10
16-68817439-C-G CDH1 c.164-18134C>G - IntronicSNV - 2/15
3-37949176-A-T CTDSPL c.80-39372A>T - IntronicSNV - 1/6
19-52381616-G-T ZNF577 c.187+26C>A - IntronicSNV - 5/6
15-48747440-C-T FBN1 c.5422+1394G>A - IntronicSNV - 44/65
4-95528867-T-C PDLIM5 c.594-10288T>C - IntronicSNV - 7/12
10-80937805-G-A ZMIZ1 c.1-23585G>A - IntronicSNV - 1/24
9-6236977-A-T IL33 c.1-4718A>T - IntronicSNV - 1/7
5-56220382-T-C MIER3 c.922-513A>G - IntronicSNV - 10/12
3-37996268-G-A CTDSPL c.234+7566G>A - IntronicSNV - 2/6
7-97793209-G-A LMTK2 c.657+4472G>A - IntronicSNV - 6/13
16-68728938-C-T CDH3 c.2003-220C>T - IntronicSNV - 13/15
3-37949176-A-C CTDSPL c.80-39372A>C - IntronicSNV - 1/6
15-48782563-T-C FBN1 c.2855-288A>G - IntronicSNV - 24/65
15-48782563-T-A FBN1 c.2855-288A>T - IntronicSNV - 24/65
12-51197717-C-T ATF1 c.195-5522C>T - IntronicSNV - 3/6
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
7-97912241-C-T BRI3 c.245+476C>T - IntronicSNV - 2/2
6-117251495-A-G RFX6 c.2612-999A>G - IntronicSNV - 18/18
15-48803839-T-C FBN1 c.1589-1473A>G - IntronicSNV - 13/65
22-40482752-G-A TNRC6B c.-120-30307G>A - intron_variant - 1/23
4-95419519-G-A PDLIM5 c.97-25356G>A - IntronicSNV - 2/12
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
3-27487705-C-A SLC4A7 c.262+2437G>T - IntronicSNV - 3/24
21-31179134-C-A GRIK1 c.119-112752G>T - IntronicSNV - 1/16
5-56151744-G-A MAP3K1 c.483-683G>A - IntronicSNV - 1/19
4-95563972-G-A PDLIM5 c.956+2371G>A - IntronicSNV - 9/12
11-1943120-G-A TNNT3 c.1-985G>A - IntronicSNV - 1/15
7-27983781-C-G JAZF1 c.188+47747G>C - IntronicSNV - 2/4
3-169500487-G-A MYNN c.1399+56G>A - IntronicSNV - 5/7
16-68819614-C-T CDH1 c.164-15959C>T - IntronicSNV - 2/15
16-52577835-T-A TOX3 c.87+2714A>T - IntronicSNV - 1/6
5-82973210-C-G HAPLN1 c.1-3868G>C - IntronicSNV - 1/4
3-127963448-A-G EEFSEC c.317-2231A>G - IntronicSNV - 1/6
6-127633959-T-C ECHDC1 c.497+2002A>G - IntronicSNV - 5/5
7-97763497-C-T LMTK2 c.104-3130C>T - IntronicSNV - 1/13
3-127934218-A-G EEFSEC c.317-31461A>G - IntronicSNV - 1/6
15-48864367-A-G FBN1 c.538+24113T>C - IntronicSNV - 6/65
3-169502180-T-A MYNN c.1484-230T>A - IntronicSNV - 6/7
3-169502180-T-C MYNN c.1484-230T>C - IntronicSNV - 6/7
4-106116961-C-G TET2 c.-47+5299C>G - intron_variant - 2/2
10-80842974-G-A ZMIZ1 c.-337+13947G>A - intron_variant - 1/24
4-95511681-T-C PDLIM5 c.593+4086T>C - IntronicSNV - 7/12
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
6-127605898-C-T RNF146 c.-129-1297C>T - intron_variant - 3/4
10-123732431-A-G NSMCE4A c.370+1088T>C - IntronicSNV - 2/10
15-48911684-T-C FBN1 c.165-6395A>G - IntronicSNV - 2/65
19-33575064-G-A GPATCH1 c.73+2892G>A - IntronicSNV - 1/19
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
7-28005988-C-T JAZF1 c.188+25540G>A - IntronicSNV - 2/4
6-41533579-C-T FOXP4 c.81C>T p.Ala27Ala Synonymous 2/17 -
16-68815549-T-A CDH1 c.164-20024T>A - IntronicSNV - 2/15
12-50762489-G-A FAM186A c.193-5342C>T - IntronicSNV - 1/7
5-56114526-T-G MAP3K1 c.482+2644T>G - IntronicSNV - 1/19
12-50757628-G-A FAM186A c.193-481C>T - IntronicSNV - 1/7
4-95586279-T-C PDLIM5 c.*1061T>C - 3-UTRSNV 13/13 -
4-95526241-T-A PDLIM5 c.594-12914T>A - IntronicSNV - 7/12
16-68814502-A-G CDH1 c.164-21071A>G - IntronicSNV - 2/15
3-128122820-T-A EEFSEC c.1601-4092T>A - IntronicSNV - 6/6
3-128122820-T-C EEFSEC c.1601-4092T>C - IntronicSNV - 6/6
3-128071809-A-T EEFSEC c.1444-5251A>T - 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
10-123340311-C-T FGFR2 c.109+12912G>A - IntronicSNV - 2/17
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
4-106097339-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
15-48931451-T-C FBN1 c.164+5352A>G - IntronicSNV - 2/65
3-127911820-G-A EEFSEC c.316+39154G>A - IntronicSNV - 1/6
4-95575601-C-T PDLIM5 c.957-10C>T - IntronicSNV - 9/12
19-17422649-G-A DDA1 c.3+2183G>A - IntronicSNV - 1/4
19-17422649-G-C DDA1 c.3+2183G>C - IntronicSNV - 1/4
12-51173733-A-G ATF1 c.1-196A>G - IntronicSNV - 1/6
3-128071809-A-G EEFSEC c.1444-5251A>G - IntronicSNV - 5/6
4-95588274-G-A PDLIM5 c.*3056G>A - 3-UTRSNV 13/13 -
2-20888265-A-G LDAH c.787-1411T>C - IntronicSNV - 6/6
6-151932778-A-G CCDC170 c.1711-3800A>G - IntronicSNV - 9/10
16-53230106-G-C CHD9 c.1453-13288G>C - IntronicSNV - 2/38
15-48901313-C-T FBN1 c.346+1612G>A - IntronicSNV - 4/65
15-48713996-G-T FBN1 c.7571-113C>A - IntronicSNV - 61/65
15-48713996-G-A FBN1 c.7571-113C>T - IntronicSNV - 61/65
5-44814004-G-A MRPS30 c.1030+620G>A - IntronicSNV - 4/4
3-127903678-T-C EEFSEC c.316+31012T>C - IntronicSNV - 1/6
3-127903678-T-G EEFSEC c.316+31012T>G - IntronicSNV - 1/6
4-106123582-G-A TET2 c.-47+11920G>A - intron_variant - 2/2
4-95533967-T-C PDLIM5 c.594-5188T>C - IntronicSNV - 7/12
7-97793209-G-T LMTK2 c.657+4472G>T - IntronicSNV - 6/13
16-68818903-T-C CDH1 c.164-16670T>C - IntronicSNV - 2/15
6-160782662-A-G SLC22A3 c.429+12782A>G - 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
7-98028466-T-C BAIAP2L1 c.51+1648A>G - IntronicSNV - 1/13
15-48799348-T-G FBN1 c.1837+1431A>C - IntronicSNV - 15/65
15-48799348-T-C FBN1 c.1837+1431A>G - IntronicSNV - 15/65
16-68725783-G-A CDH3 c.1956G>A p.Lys652Lys Synonymous 13/16 -
10-123641704-G-C ATE1 c.943-12151C>G - IntronicSNV - 7/11
7-98010811-G-A BAIAP2L1 c.52-19067C>T - IntronicSNV - 1/13
3-128110770-G-A EEFSEC c.1601-16142G>A - IntronicSNV - 6/6
16-52558673-T-G TOX3 c.87+21876A>C - IntronicSNV - 1/6
15-48770580-A-G FBN1 c.3964+3272T>C - IntronicSNV - 32/65
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
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
6-151930249-G-A CCDC170 c.1711-6329G>A - IntronicSNV - 9/10
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
3-128015236-C-T EEFSEC c.786+31612C>T - IntronicSNV - 4/6
15-48887603-T-C FBN1 c.538+877A>G - IntronicSNV - 6/65
12-50939807-A-T DIP2B c.100+40784A>T - IntronicSNV - 1/37
13-95858058-A-C ABCC4 c.1161+728T>G - IntronicSNV - 8/30
15-48720526-G-A FBN1 c.6997+17C>T - IntronicSNV - 57/65
15-48720526-G-C FBN1 c.6997+17C>G - IntronicSNV - 57/65
3-37960151-A-G CTDSPL c.80-28397A>G - IntronicSNV - 1/6
17-36098987-G-A HNF1B c.544+444C>T - IntronicSNV - 2/8
3-37974341-G-C CTDSPL c.80-14207G>C - IntronicSNV - 1/6
10-123624175-T-A ATE1 c.975+5346A>T - IntronicSNV - 8/11
15-48810499-G-T FBN1 c.1148-1940C>A - IntronicSNV - 10/65
16-68818390-C-T CDH1 c.164-17183C>T - IntronicSNV - 2/15
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
16-68731365-T-G CDH3 c.2281-729T>G - IntronicSNV - 15/15
21-31149625-C-G GRIK1 c.119-83243G>C - IntronicSNV - 1/16
5-10464049-C-T ROPN1L c.594-911C>T - IntronicSNV - 4/4
16-68731365-T-C CDH3 c.2281-729T>C - IntronicSNV - 15/15
6-41548540-C-T FOXP4 c.300+2721C>T - IntronicSNV - 3/16
6-41548540-C-G FOXP4 c.300+2721C>G - IntronicSNV - 3/16
16-68790502-C-T CDH1 c.163+18188C>T - IntronicSNV - 2/15
7-28016334-T-A JAZF1 c.188+15194A>T - IntronicSNV - 2/4
7-28016334-T-C JAZF1 c.188+15194A>G - IntronicSNV - 2/4
16-68809599-G-A CDH1 c.164-25974G>A - IntronicSNV - 2/15
15-48768673-A-G FBN1 c.3965-1826T>C - IntronicSNV - 32/65
7-97784061-T-C LMTK2 c.451-9T>C - IntronicSNV - 4/13
15-33010736-G-A GREM1 c.-2+374G>A - intron_variant - 1/1
15-33010736-G-C GREM1 c.-2+374G>C - intron_variant - 1/1
4-95500223-C-T PDLIM5 c.383+3038C>T - IntronicSNV - 5/12
11-1906174-G-A LSP1 c.717+363G>A - IntronicSNV - 7/10
7-98005332-A-G BAIAP2L1 c.52-13588T>C - IntronicSNV - 1/13
22-40466872-A-G TNRC6B c.-121+25870A>G - intron_variant - 1/23
15-48882966-A-C FBN1 c.538+5514T>G - IntronicSNV - 6/65
6-41525739-A-G FOXP4 c.1-7760A>G - IntronicSNV - 1/16
16-68784587-G-T CDH1 c.163+12273G>T - IntronicSNV - 2/15
6-160774441-G-C SLC22A3 c.429+4561G>C - IntronicSNV - 1/10
15-48897416-G-A FBN1 c.347-4985C>T - IntronicSNV - 4/65
5-10456693-G-A ROPN1L c.418-4603G>A - IntronicSNV - 3/4
10-123337117-C-T FGFR2 c.110-11899G>A - IntronicSNV - 2/17
22-40479811-G-A TNRC6B c.-120-33248G>A - intron_variant - 1/23
3-169497585-A-G MYNN c.1060+236A>G - IntronicSNV - 3/7
10-126691180-G-A CTBP2 c.358+349C>T - IntronicSNV - 5/10
16-68784587-G-C CDH1 c.163+12273G>C - IntronicSNV - 2/15
16-68784587-G-A CDH1 c.163+12273G>A - IntronicSNV - 2/15
3-128083332-A-G EEFSEC c.1600+6116A>G - IntronicSNV - 6/6
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
15-48888988-A-T FBN1 c.443-413T>A - IntronicSNV - 5/65
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
10-123651061-T-G ATE1 c.942+8320A>C - IntronicSNV - 7/11
10-123724632-C-G NSMCE4A c.753+169G>C - IntronicSNV - 5/10
7-27936709-T-C JAZF1 c.189-1674A>G - IntronicSNV - 2/4
22-40475326-A-G TNRC6B c.-121+34324A>G - intron_variant - 1/23
3-127933822-T-G EEFSEC c.317-31857T>G - IntronicSNV - 1/6
16-68698886-C-T CDH3 c.161-11402C>T - IntronicSNV - 2/15
13-95879410-G-A ABCC4 c.531+7454C>T - IntronicSNV - 4/30
10-123661672-G-A ATE1 c.813+234C>T - IntronicSNV - 6/11
6-127606160-G-A RNF146 c.-129-1035G>A - intron_variant - 3/4
4-95437443-A-G PDLIM5 c.97-7432A>G - IntronicSNV - 2/12
20-60938648-C-T LAMA5 c.298-1040G>A - IntronicSNV - 1/79
7-98005778-A-G BAIAP2L1 c.52-14034T>C - IntronicSNV - 1/13
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
15-48861287-A-G FBN1 c.538+27193T>C - IntronicSNV - 6/65
12-50671370-T-C LIMA1 c.-24+5833A>G - intron_variant - 1/10
5-10450427-T-C ROPN1L c.417+202T>C - IntronicSNV - 3/4
15-48861287-A-C FBN1 c.538+27193T>G - IntronicSNV - 6/65
6-117249384-A-C RFX6 c.2399-538A>C - IntronicSNV - 17/18
6-151918856-T-G CCDC170 c.1710+1144T>G - IntronicSNV - 9/10
6-151918856-T-C CCDC170 c.1710+1144T>C - IntronicSNV - 9/10
15-48780089-A-C FBN1 c.3337+221T>G - IntronicSNV - 27/65
5-10460216-C-T ROPN1L c.418-1080C>T - 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
3-37962690-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
15-48751329-C-G FBN1 c.5296+1114G>C - IntronicSNV - 43/65
6-151939181-G-A CCDC170 c.2047G>A p.Val683Ile Missense 11/11 -
7-27958773-T-C JAZF1 c.189-23738A>G - IntronicSNV - 2/4
22-40443219-T-C TNRC6B c.-121+2217T>C - intron_variant - 1/23
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
3-169528523-G-T LRRC34 c.139+1675C>A - IntronicSNV - 1/9
11-1941946-T-C TNNT3 c.-19+954T>C - intron_variant - 1/15
15-48783058-A-G FBN1 c.2855-783T>C - IntronicSNV - 24/65
15-48849728-C-T FBN1 c.539-19723G>A - IntronicSNV - 6/65
7-97921533-A-T BAIAP2L1 c.*1300T>A - 3-UTRSNV 14/14 -
21-31185447-G-A GRIK1 c.119-119065C>T - IntronicSNV - 1/16
21-31185447-G-C GRIK1 c.119-119065C>G - IntronicSNV - 1/16
16-68727069-C-G CDH3 c.2002+1240C>G - IntronicSNV - 13/15
16-68809207-C-T CDH1 c.164-26366C>T - IntronicSNV - 2/15
16-68727069-C-T CDH3 c.2002+1240C>T - IntronicSNV - 13/15
15-48821048-G-A FBN1 c.863-2596C>T - IntronicSNV - 8/65
3-169486271-C-A ACTRT3 c.201-133G>T - IntronicSNV - 1/1
6-117252091-T-C RFX6 c.2612-403T>C - IntronicSNV - 18/18
6-160865645-G-C SLC22A3 c.1510+871G>C - IntronicSNV - 9/10
6-160872786-C-G SLC22A3 c.*698C>G - 3-UTRSNV 11/11 -
6-127638348-A-T ECHDC1 c.364-701T>A - IntronicSNV - 3/5
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
10-123643711-A-C ATE1 c.943-14158T>G - IntronicSNV - 7/11
3-169567241-A-T LRRC31 c.1160-1166T>A - IntronicSNV - 7/8
2-63087778-T-C EHBP1 c.862+1352T>C - IntronicSNV - 9/24
7-27989768-G-A JAZF1 c.188+41760C>T - IntronicSNV - 2/4
20-60913495-T-G LAMA5 c.1618+29A>C - IntronicSNV - 12/79
12-51011256-A-T DIP2B c.101-8503A>T - IntronicSNV - 1/37
10-123351324-T-C FGFR2 c.109+1899A>G - IntronicSNV - 2/17
6-160834515-T-C SLC22A3 c.975+2637T>C - IntronicSNV - 5/10
10-123350191-T-C FGFR2 c.109+3032A>G - IntronicSNV - 2/17
16-68832943-C-T CDH1 c.164-2630C>T - IntronicSNV - 2/15
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 -
12-50747005-T-A FAM186A c.3610A>T p.Arg1204Trp Missense 4/8 -
4-106137033-G-A TET2 c.1-18067G>A - IntronicSNV - 2/2
17-48244531-C-T SGCA c.38-198C>T - IntronicSNV - 1/9
17-48244531-C-G SGCA c.38-198C>G - IntronicSNV - 1/9
7-97935671-C-G BAIAP2L1 c.1241+80G>C - IntronicSNV - 11/13
6-51634608-C-T PKHD1 c.8642+2892G>A - IntronicSNV - 55/66
13-95866614-G-A ABCC4 c.532-3579C>T - IntronicSNV - 4/30
10-123649464-C-T ATE1 c.942+9917G>A - IntronicSNV - 7/11
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
7-97797778-G-A LMTK2 c.658-3075G>A - IntronicSNV - 6/13
17-47436749-G-C ZNF652 c.-259+3026C>G - intron_variant - 1/5
7-97807882-C-A LMTK2 c.792-6481C>A - IntronicSNV - 7/13
3-87291880-G-C CHMP2B c.126+1940G>C - IntronicSNV - 2/5
16-68806508-C-A CDH1 c.164-29065C>A - IntronicSNV - 2/15
10-123645577-C-T ATE1 c.942+13804G>A - IntronicSNV - 7/11
10-80937805-G-T ZMIZ1 c.1-23585G>T - IntronicSNV - 1/24
3-127905451-A-G EEFSEC c.316+32785A>G - IntronicSNV - 1/6
2-20987739-G-A LDAH c.298+2276C>T - IntronicSNV - 3/6
7-98016417-C-A BAIAP2L1 c.51+13697G>T - IntronicSNV - 1/13
16-68778996-G-A CDH1 c.163+6682G>A - IntronicSNV - 2/15
16-68806539-G-T CDH1 c.164-29034G>T - IntronicSNV - 2/15
10-126688200-C-A CTBP2 c.359-1461G>T - IntronicSNV - 5/10
3-27492150-G-C SLC4A7 c.115+1758C>G - IntronicSNV - 2/24
7-27966984-C-T JAZF1 c.189-31949G>A - IntronicSNV - 2/4
12-50652929-T-C LIMA1 c.1-10395A>G - IntronicSNV - 1/10