PMID: 24036952

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature genetics
JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, JI Goldstein, M Triebwasser, HE Anderson, J Zerbib, D Kavanagh, E Souied, N Katsanis, MJ Daly, JP Atkinson, S Raychaudhuri
2013-11

1905 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-57598512-G-A LRP1 c.11174G>A p.Gly3725Glu Missense 72/89 -
1-171605387-T-C MYOC c.1193A>G p.Lys398Arg Missense 3/3 -
17-21216820-G-A MAP2K3 c.931G>A p.Ala311Thr Missense 11/12 -
17-21216820-G-T MAP2K3 c.931G>T p.Ala311Ser Missense 11/12 -
12-52585677-G-A KRT80 c.10C>T p.Arg4Cys Missense 1/9 -
11-46897434-T-C LRP4 c.3620A>G p.Asn1207Ser Missense 26/38 -
1-186092103-C-T HMCN1 c.12250C>T p.His4084Tyr Missense 81/107 -
19-54848826-C-T LILRA4 c.797G>A p.Arg266His Missense 5/8 -
6-32180684-A-C NOTCH4 c.2443T>G p.Cys815Gly Missense 16/30 -
19-6707888-T-C C3 c.1898A>G p.Lys633Arg Missense 15/41 -
20-60893635-C-A LAMA5 c.7114G>T p.Asp2372Tyr Missense 53/80 -
15-75012979-G-A CYP1A1 c.1390C>T p.Arg464Cys Missense 7/7 -
7-80292426-G-A CD36 c.550G>A p.Asp184Asn Missense 6/14 -
5-37815941-C-T GDNF c.448G>A p.Asp150Asn Missense 3/3 -
4-110662178-C-T CFI c.1623G>A p.Trp541* Nonsense 13/13 -
16-56995935-C-A CETP c.44C>A p.Ala15Asp Missense 1/16 -
16-56995935-C-G CETP c.44C>G p.Ala15Gly Missense 1/16 -
9-137804881-G-A FCN1 c.449C>T p.Thr150Met Missense 6/9 -
16-53878082-G-A FTO c.767G>A p.Ser256Asn Missense 4/9 -
8-123965432-G-A ZHX2 c.1682G>A p.Arg561Gln Missense 3/4 -
3-39307962-C-A CX3CR1 c.39G>T p.Glu13Asp Missense 2/2 -
20-60900388-C-T LAMA5 c.5513G>A p.Arg1838Gln Missense 41/80 -
7-99817878-C-T PVRIG c.260C>T p.Thr87Met Missense 3/6 -
6-30593528-C-T MRPS18B c.731C>T p.Ala244Val Missense 7/7 -
3-93598150-A-G PROS1 c.1501T>C p.Ser501Pro Missense 13/15 -
9-133942515-C-G LAMC3 c.2516C>G p.Thr839Arg Missense 14/28 -
1-94496039-C-T ABCA4 c.4297G>A p.Val1433Ile Missense 29/50 -
6-116442686-C-A COL10A1 c.593G>T p.Arg198Leu Missense 3/3 -
10-81372166-C-A SFTPA1 c.271C>A p.Pro91Thr Missense 4/6 -
7-99627504-C-G ZKSCAN1 c.601C>G p.Pro201Ala Missense 4/6 -
8-141744806-G-A PTK2 c.2096+544C>T - IntronicSNV - 22/31
17-76399916-A-G PGS1 c.1148A>G p.Tyr383Cys Missense 7/10 -
4-110670400-C-A CFI c.1122G>T p.Trp374Cys Missense 10/13 -
1-196964886-A-T CFHR5 c.647A>T p.Asn216Ile Missense 5/10 -
18-47113165-C-G LIPG c.1426C>G p.Arg476Gly Missense 9/10 -
7-94937419-G-A PON1 c.602C>T p.Ala201Val Missense 6/9 -
9-133952618-T-C LAMC3 c.3674T>C p.Val1225Ala Missense 22/28 -
4-120427058-C-T PDE5A c.2219G>A p.Arg740Lys Missense 17/21 -
3-48627789-C-A COL7A1 c.1907G>T p.Gly636Val Missense 15/118 -
13-111082772-G-T COL4A2 c.574G>T p.Val192Phe Missense 9/48 -
21-47402620-C-A COL6A1 c.170C>A p.Ala57Asp Missense 2/35 -
1-94473287-G-A ABCA4 c.5908C>T p.Leu1970Phe Missense 43/50 -
4-110605744-A-T MCUB c.758A>T p.Tyr253Phe Missense 6/8 -
17-48267454-G-C COL1A1 c.2467C>G p.Pro823Ala Missense 36/51 -
17-48267454-G-T COL1A1 c.2467C>A p.Pro823Thr Missense 36/51 -
6-30653141-C-G PPP1R18 c.655G>C p.Val219Leu Missense 1/3 -
15-37184546-T-C MEIS2 c.*152A>G - 3_prime_UTR_variant 13/13 -
15-58957371-C-G ADAM10 c.510G>C p.Gln170His Missense 5/16 -
7-100064620-G-A TSC22D4 c.1150C>T p.Arg384Trp Missense 5/5 -
7-100064620-G-T TSC22D4 c.1150C>A p.Arg384Arg Synonymous 5/5 -
10-55973755-G-A PCDH15 c.1039C>T p.Leu347Phe Missense 10/33 -
7-99473801-A-G OR2AE1 c.856T>C p.Ser286Pro Missense 1/1 -
1-94508969-G-A ABCA4 c.3113C>T p.Ala1038Val Missense 21/50 -
4-1806131-T-A FGFR3 c.1150T>A p.Phe384Ile Missense 9/18 -
1-151502589-G-A CGN c.2311G>A p.Glu771Lys Missense 12/21 -
16-31286886-G-A ITGAM c.875G>A p.Arg292His Missense 9/30 -
1-100476986-G-A SLC35A3 c.531G>A p.Met177Ile Missense 5/8 -
6-31686943-C-T LY6G6C c.308G>A p.Arg103Gln Missense 3/3 -
3-48624040-C-T COL7A1 c.3359G>A p.Arg1120Lys Missense 25/118 -
16-55857559-C-A CES1 c.439G>T p.Gly147Cys Missense 4/14 -
1-227068398-G-T PSEN2 c.1-1211G>T - IntronicSNV - 3/12
10-75675086-T-C PLAU c.1048T>C p.Tyr350His Missense 10/11 -
4-110662173-A-G CFI c.1628T>C p.Val543Ala Missense 13/13 -
1-11106642-G-A MASP2 c.383C>T p.Thr128Met Missense 3/11 -
20-44757524-C-G CD40 c.679C>G p.Pro227Ala Missense 9/9 -
20-44757524-C-T CD40 c.679C>T p.Pro227Ser Missense 9/9 -
17-61562322-T-C ACE c.1922-275T>C - IntronicSNV - 12/24
20-52781100-C-T CYP24A1 c.735G>A p.Met245Ile Missense 6/12 -
5-156918638-G-A ADAM19 c.2080C>T p.Pro694Ser Missense 18/23 -
6-116443023-C-T COL10A1 c.256G>A p.Gly86Arg Missense 3/3 -
19-10395877-C-T ICAM1 c.1513C>T p.Arg505Cys Missense 7/7 -
16-53288510-T-C CHD9 c.4022T>C p.Val1341Ala Missense 18/39 -
11-27680107-G-A BDNF c.5C>T p.Thr2Ile Missense 1/1 -
1-120478125-A-C NOTCH2 c.3625T>G p.Phe1209Val Missense 22/34 -
15-75013051-C-T CYP1A1 c.1318G>A p.Asp440Asn Missense 7/7 -
10-55582088-C-T PCDH15 c.5398G>A p.Val1800Ile Missense 33/33 -
1-232564288-T-G SIPA1L2 c.4279A>C p.Met1427Leu Missense 15/21 -
1-11105542-C-T MASP2 c.467G>A p.Cys156Tyr Missense 4/11 -
13-113803236-G-A F10 c.872G>A p.Arg291Gln Missense 8/8 -
21-46932115-G-A COL18A1 c.4354G>A - missense_variant 41/41 -
15-66853414-G-A LCTL c.635C>T p.Thr212Met Missense 7/14 -
4-110678925-T-A CFI c.898A>T p.Thr300Ser Missense 7/13 -
4-110678925-T-C CFI c.898A>G p.Thr300Ala Missense 7/13 -
22-32914209-C-A SYN3 c.1428G>T p.Gln476His Missense 13/14 -
7-2752196-C-G AMZ1 c.1181C>G p.Pro394Arg Missense 7/7 -
7-2752196-C-T AMZ1 c.1181C>T p.Pro394Leu Missense 7/7 -
4-110670750-G-A CFI c.949C>T p.Arg317Trp Missense 9/13 -
17-1674431-C-A SERPINF1 c.392C>A p.Ala131Asp Missense 4/8 -
16-23099059-T-A USP31 c.1513A>T p.Thr505Ser Missense 8/16 -
17-48275339-G-A COL1A1 c.613C>T p.Pro205Ser Missense 8/51 -
1-186136015-G-A HMCN1 c.15515G>A p.Arg5172His Missense 100/107 -
5-41195939-G-T C6 c.542C>A p.Thr181Lys Missense 5/18 -
5-41195939-G-A C6 c.542C>T p.Thr181Ile Missense 5/18 -
12-123805261-G-A SBNO1 c.2473C>T p.Pro825Ser Missense 18/32 -
15-42644231-G-A GANC c.2639G>A p.Gly880Asp Missense 24/24 -
15-42644231-G-C GANC c.2639G>C p.Gly880Ala Missense 24/24 -
2-56145071-T-C EFEMP1 c.246A>G p.Glu82Glu Synonymous 5/12 -
22-39631786-C-T PDGFB c.157G>A p.Gly53Arg Missense 2/7 -
3-118621387-G-T IGSF11 c.1276C>A p.Arg426Arg Synonymous 7/7 -
3-118621387-G-A IGSF11 c.1276C>T p.Arg426Trp Missense 7/7 -
17-61560846-C-G ACE c.1513C>G p.Pro505Ala Missense 10/25 -
1-233394248-T-C PCNX2 c.1360A>G p.Thr454Ala Missense 5/34 -
6-32135005-C-T EGFL8 c.572C>T p.Pro191Leu Missense 6/9 -
9-77752523-C-G OSTF1 c.478C>G p.Leu160Val Missense 8/10 -
19-13051130-G-A CALR c.566G>A p.Ser189Asn Missense 5/9 -
7-100004867-T-C ZCWPW1 c.1049A>G p.His350Arg Missense 11/18 -
9-130578230-G-A ENG c.1844C>T p.Ser615Leu Missense 14/14 -
9-130578230-G-C ENG c.1844C>G p.Ser615Trp Missense 14/14 -
11-85707896-C-G PICALM c.1231G>C p.Ala411Pro Missense 12/20 -
15-62219337-G-A VPS13C c.6340C>T p.Leu2114Phe Missense 50/83 -
1-77987594-G-A AK5 c.1394G>A p.Arg465Gln Missense 12/14 -
8-2000428-G-A MYOM2 c.260G>A p.Ser87Asn Missense 3/37 -
15-75043539-C-T CYP1A2 c.841C>T p.Arg281Trp Missense 3/7 -
7-100420010-G-A EPHB4 c.691C>T p.Pro231Ser Missense 4/17 -
7-100420010-G-C EPHB4 c.691C>G p.Pro231Ala Missense 4/17 -
4-1809191-G-A FGFR3 c.*202G>A - 3-UTRSNV 18/18 -
10-124175436-G-A PLEKHA1 c.530G>A p.Ser177Asn Missense 7/12 -
21-46929372-G-A COL18A1 c.3883G>A - missense_variant 38/41 -
12-12332842-C-A LRP6 c.1447G>T p.Val483Leu Missense 7/23 -
12-12332842-C-T LRP6 c.1447G>A p.Val483Ile Missense 7/23 -
1-183209311-C-A LAMC2 c.3206C>A p.Thr1069Lys Missense 21/23 -
1-151491026-C-T CGN c.31C>T p.Arg11Trp Missense 2/21 -
1-207760852-G-A CR1 c.4302G>A p.Met1434Ile Missense 26/39 -
6-31855727-C-T EHMT2 c.1757G>A p.Arg586Gln Missense 14/28 -
1-151503071-G-A CGN c.2420G>A p.Arg807Gln Missense 13/21 -
7-99706126-G-A AP4M1 c.*1621G>A - IntergenicSNV 15/15 -
19-10385540-A-T ICAM1 c.167A>T p.Lys56Met Missense 2/7 -
8-139164185-T-C FAM135B c.2533A>G p.Ile845Val Missense 13/20 -
1-182026013-G-T ZNF648 c.1133C>A p.Ser378* Nonsense 2/2 -
20-60893611-C-T LAMA5 c.7138G>A p.Gly2380Ser Missense 53/80 -
6-161127501-A-G PLG c.112A>G p.Lys38Glu Missense 2/19 -
13-111164315-C-T COL4A2 c.4916C>T p.Ser1639Leu Missense 48/48 -
4-103225569-G-C SLC39A8 c.745C>G p.Pro249Ala Missense 5/8 -
9-101767245-G-A COL15A1 c.1266G>A p.Met422Ile Missense 9/42 -
6-32151458-G-A AGER c.229C>T p.Arg77Cys Missense 3/11 -
7-99971849-A-G PILRA c.247A>G p.Ser83Gly Missense 2/7 -
4-110682715-A-T CFI c.616T>A p.Tyr206Asn Missense 4/13 -
1-31347320-G-A SDC3 c.986C>T p.Thr329Ile Missense 4/5 -
1-161487823-A-C FCGR2A c.836A>C p.Asp279Ala Missense 7/7 -
3-100016789-G-C TBC1D23 c.899G>C p.Ser300Thr Missense 9/18 -
15-66813446-C-G ZWILCH c.650C>G p.Thr217Arg Missense 7/19 -
15-66813446-C-T ZWILCH c.650C>T p.Thr217Ile Missense 7/19 -
22-38478804-A-G SLC16A8 c.77T>C p.Phe26Ser Missense 2/5 -
10-105836074-G-A COL17A1 c.316C>T p.Arg106Cys Missense 5/56 -
17-74383509-G-A SPHK1 c.1039G>A p.Asp347Asn Missense 6/6 -
3-133473346-G-A TF c.333G>A p.Gln111Gln Synonymous 4/17 -
7-81334825-C-T HGF c.1891G>A p.Val631Met Missense 17/18 -
7-81334825-C-G HGF c.1891G>C p.Val631Leu Missense 17/18 -
20-52788189-C-G CYP24A1 c.470G>C p.Arg157Pro Missense 3/12 -
20-52788189-C-T CYP24A1 c.470G>A p.Arg157Gln Missense 3/12 -
19-6734292-T-A GPR108 c.401A>T p.Gln134Leu Missense 5/18 -
19-6734292-T-C GPR108 c.401A>G p.Gln134Arg Missense 5/18 -
4-178257364-G-C NEIL3 c.516G>C p.Gln172His Missense 4/10 -
9-133932415-C-T LAMC3 c.2039C>T p.Thr680Met Missense 12/28 -
6-116599896-G-T TSPYL1 c.1098C>A p.Phe366Leu Missense 1/1 -
1-100459132-G-A SLC35A3 c.22G>A p.Val8Ile Missense 2/8 -
6-31731195-C-T SAPCD1 c.118C>T p.Arg40Cys Missense 2/5 -
4-178262648-G-T NEIL3 c.721G>T p.Ala241Ser Missense 6/10 -
2-215882749-G-T ABCA12 c.1765C>A p.Pro589Thr Missense 14/53 -
15-66821230-A-G ZWILCH c.1010A>G p.Lys337Arg Missense 11/19 -
15-66857141-G-A LCTL c.155C>T p.Thr52Met Missense 3/14 -
2-21231278-G-A APOB c.8462C>T p.Pro2821Leu Missense 26/29 -
21-47532093-G-A COL6A2 c.316G>A p.Glu106Lys Missense 3/28 -
16-31374624-G-A ITGAX c.1639G>A p.Glu547Lys Missense 14/30 -
16-31374624-G-C ITGAX c.1639G>C p.Glu547Gln Missense 14/30 -
7-2752456-C-A AMZ1 c.1441C>A p.Arg481Arg Synonymous 7/7 -
1-94544977-A-T ABCA4 c.1140T>A p.Asn380Lys Missense 9/50 -
4-178272608-G-C NEIL3 c.944G>C p.Arg315Pro Missense 7/10 -
4-178272608-G-A NEIL3 c.944G>A p.Arg315Gln Missense 7/10 -
20-60893638-G-C LAMA5 c.7111C>G p.Arg2371Gly Missense 53/80 -
20-60893638-G-A LAMA5 c.7111C>T p.Arg2371Cys Missense 53/80 -
17-61566095-A-G ACE c.2392A>G p.Ile798Val Missense 16/25 -
6-32188010-T-C NOTCH4 c.1211A>G p.Asp404Gly Missense 7/30 -
6-32188010-T-A NOTCH4 c.1211A>T p.Asp404Val Missense 7/30 -
17-66871468-G-C ABCA8 c.4444C>G p.Leu1482Val Missense 35/38 -
8-23082369-C-G TNFRSF10A c.206G>C p.Arg69Pro Missense 1/10 -
6-32150086-C-T AGER c.902G>A p.Cys301Tyr Missense 8/11 -
6-32150086-C-G AGER c.902G>C p.Cys301Ser Missense 8/11 -
4-57829669-G-A NOA1 c.2044C>T p.Pro682Ser Missense 7/7 -
9-21077313-G-A IFNB1 c.556C>T p.Arg186* Nonsense 1/1 -
6-116443735-T-A COL10A1 c.155-611A>T - IntronicSNV - 2/2
9-125152621-G-A PTGS1 c.1441G>A p.Val481Ile Missense 10/11 -
5-156915323-G-C ADAM19 c.2500C>G p.Pro834Ala Missense 21/23 -
15-62300929-A-G VPS13C c.914T>C p.Val305Ala Missense 12/83 -
7-99654642-G-A ZSCAN21 c.13G>A p.Val5Ile Missense 2/4 -
4-110667554-T-A CFI c.1253A>T p.His418Leu Missense 11/13 -
22-32914312-C-T SYN3 c.1325G>A p.Arg442His Missense 13/14 -
11-85779721-G-C PICALM c.102C>G p.Ile34Met Missense 1/20 -
6-161152807-G-A PLG c.1469G>A p.Arg490Gln Missense 12/19 -
15-62214756-A-C VPS13C c.6686T>G p.Ile2229Arg Missense 52/83 -
15-62214756-A-G VPS13C c.6686T>C p.Ile2229Thr Missense 52/83 -
6-116720466-G-A DSE c.53G>A p.Cys18Tyr Missense 2/6 -
6-116720466-G-T DSE c.53G>T p.Cys18Phe Missense 2/6 -
4-110670459-C-T CFI c.1063G>A p.Val355Met Missense 10/13 -
6-30647035-G-T PPP1R18 c.1743C>A p.Asp581Glu Missense 2/3 -
19-10398465-C-T ICAM4 c.648C>T p.Leu216Leu Synonymous 2/3 -
6-31726056-C-T MSH5 c.1129C>T p.Leu377Phe Missense 13/25 -
1-20305003-G-A PLA2G2A c.55C>T p.His19Tyr Missense 4/6 -
1-11090885-G-A MASP2 c.1142C>T p.Thr381Ile Missense 9/11 -
18-580412-G-A CETN1 c.4G>A p.Ala2Thr Missense 1/1 -
3-99885200-A-G CMSS1 c.377A>G p.Asn126Ser Missense 5/10 -
4-157891943-T-C PDGFC c.113A>G p.Gln38Arg Missense 1/6 -
1-196709833-C-T CFH c.2867C>T p.Thr956Met Missense 18/22 -
10-50680959-G-A ERCC6 c.2825C>T p.Thr942Met Missense 15/21 -
1-94487490-A-G ABCA4 c.4685T>C p.Ile1562Thr Missense 33/50 -
1-103488522-C-G COL11A1 c.898-1197G>C - IntronicSNV - 6/64
8-135614553-G-C ZFAT c.1373C>G p.Ser458Cys Missense 7/17 -
11-112070431-A-C BCO2 c.644A>C p.Tyr215Ser Missense 6/12 -
11-112070431-A-G BCO2 c.644A>G p.Tyr215Cys Missense 6/12 -
9-77683986-C-T NMRK1 c.422G>A p.Gly141Glu Missense 7/9 -
15-66839296-G-C ZWILCH c.*279G>C - IntronicSNV 19/19 -
15-66839296-G-T ZWILCH c.*279G>T - IntronicSNV 19/19 -
21-47552201-C-G COL6A2 c.2795C>G p.Pro932Arg Missense 28/28 -
3-52535766-C-T STAB1 c.328C>T p.His110Tyr Missense 3/69 -
1-150789884-C-T ARNT c.1486G>A p.Asp496Asn Missense 15/21 -
9-87338511-G-T NTRK2 c.607G>T p.Ala203Ser Missense 9/15 -
9-87338511-G-A NTRK2 c.607G>A p.Ala203Thr Missense 9/15 -
1-100343254-G-A AGL c.1481G>A p.Arg494His Missense 12/34 -
9-120470884-A-G TLR4 c.137A>G p.Tyr46Cys Missense 2/3 -
21-46875961-G-T COL18A1 c.517G>T p.Gly173Cys Missense 1/41 -
3-107491892-G-A BBX c.1324G>A p.Ala442Thr Missense 11/17 -
15-42457972-C-A VPS39 c.1723G>T p.Asp575Tyr Missense 17/25 -
22-42525089-G-C CYP2D6 c.451C>G p.Gln151Glu Missense 3/9 -
1-100343254-G-C AGL c.1481G>C p.Arg494Pro Missense 12/34 -
17-80207454-C-T CSNK1D c.910G>A p.Ala304Thr Missense 7/10 -
4-110687712-T-G CFI c.326A>C p.Glu109Ala Missense 2/13 -
19-1057343-G-A ABCA7 c.4795G>A p.Val1599Met Missense 35/47 -
20-60888510-G-A LAMA5 c.8665C>T p.Pro2889Ser Missense 64/80 -
19-10395141-G-A ICAM1 c.988G>A p.Val330Met Missense 5/7 -
1-185934999-G-A HMCN1 c.2164G>A p.Glu722Lys Missense 14/107 -
2-215910574-G-C ABCA12 c.859C>G p.Arg287Gly Missense 7/53 -
13-53298212-T-G CNMD c.388A>C p.Lys130Gln Missense 4/7 -
1-186024643-G-A HMCN1 c.6981G>A p.Met2327Ile Missense 45/107 -
12-7242740-C-G C1R c.336G>C - missense_variant 3/9 -
20-60884880-C-T LAMA5 c.10840G>A p.Gly3614Arg Missense 79/80 -
4-110662253-A-G CFI c.1548T>C p.Gly516Gly Synonymous 13/13 -
2-21232044-C-T APOB c.7696G>A p.Glu2566Lys Missense 26/29 -
18-63525114-T-A CDH7 c.1298T>A p.Val433Asp Missense 8/12 -
20-60884880-C-G LAMA5 c.10840G>C p.Gly3614Arg Missense 79/80 -
6-33156845-C-T COL11A2 c.353G>A p.Arg118Gln Missense 3/5 -
3-48613683-G-A COL7A1 c.5819C>T p.Pro1940Leu Missense 70/118 -
21-47404305-T-C COL6A1 c.350T>C p.Val117Ala Missense 3/35 -
6-33156845-C-G COL11A2 c.353G>C p.Arg118Pro Missense 3/5 -
10-75671356-G-A PLAU c.43G>A p.Val15Met Missense 2/11 -
18-47113165-C-T LIPG c.1426C>T p.Arg476Trp Missense 9/10 -
6-116442686-C-T COL10A1 c.593G>A p.Arg198His Missense 3/3 -
3-99885200-A-T CMSS1 c.377A>T p.Asn126Ile Missense 5/10 -
17-21203961-G-A MAP2K3 c.270G>A p.Met90Ile Missense 4/12 -
11-65638718-C-T EFEMP2 c.277G>A p.Gly93Ser Missense 4/11 -
1-227073271-C-T PSEN2 c.389C>T p.Ser130Leu Missense 6/13 -
16-24202451-C-G PRKCB c.1763C>G p.Pro588Arg Missense 16/17 -
1-207647643-G-A CR2 c.2121G>A p.Trp707* Nonsense 12/19 -
2-228173636-A-G COL4A3 c.4484A>G p.Gln1495Arg Missense 49/52 -
1-57333311-C-A C8A c.107C>A p.Ala36Glu Missense 2/11 -
1-57333311-C-T C8A c.107C>T p.Ala36Val Missense 2/11 -
1-151502487-C-T CGN c.2209C>T p.Arg737Trp Missense 12/21 -
6-32159931-G-C GPSM3 c.139C>G p.His47Asp Missense 6/8 -
1-183102632-G-A LAMC1 c.3796G>A p.Glu1266Lys Missense 22/28 -
6-29911284-T-A HLA-A c.583T>A p.Tyr195Asn Missense 3/8 -
1-20442878-C-T PLA2G2D c.133G>A p.Gly45Ser Missense 2/3 -
19-54848722-C-A LILRA4 c.901G>T p.Val301Phe Missense 5/8 -
18-34850818-C-T CELF4 c.1012G>A p.Val338Met Missense 8/13 -
6-30520367-C-T GNL1 c.976G>A p.Glu326Lys Missense 8/12 -
20-52781100-C-G CYP24A1 c.735G>C p.Met245Ile Missense 6/12 -
6-139694603-T-A CITED2 c.479A>T p.His160Leu Missense 2/2 -
11-74168361-C-T KCNE3 c.248G>A p.Arg83His Missense 3/3 -
12-120652725-C-T PXN c.1079G>A p.Arg360Gln Missense 8/11 -
7-100033038-C-T PPP1R35 c.707G>A p.Arg236His Missense 4/4 -
20-60893611-C-G LAMA5 c.7138G>C p.Gly2380Arg Missense 53/80 -
3-52551566-G-C STAB1 c.4564G>C p.Val1522Leu Missense 44/69 -
1-196716375-C-T CFH c.3628C>T p.Arg1210Cys Missense 22/22 -
4-110667641-C-T CFI c.1166G>A p.Arg389His Missense 11/13 -
1-207648456-G-T CR2 c.2434G>T p.Val812Leu Missense 13/19 -
21-47422614-G-T COL6A1 c.2424G>T p.Gln808His Missense 33/35 -
7-2752330-C-G AMZ1 c.1315C>G p.Arg439Gly Missense 7/7 -
4-110662144-G-C CFI c.1657C>G p.Pro553Ala Missense 13/13 -
4-110662144-G-A CFI c.1657C>T p.Pro553Ser Missense 13/13 -
5-41186248-A-G C6 c.650T>C p.Ile217Thr Missense 6/18 -
9-27172662-C-T TEK c.677C>T p.Ala226Val Missense 5/23 -
7-17379796-G-A AHR c.2347G>A p.Val783Met Missense 10/11 -
1-94528806-A-G ABCA4 c.1622T>C p.Leu541Pro Missense 12/50 -
6-32159931-G-T GPSM3 c.139C>A p.His47Asn Missense 6/8 -
18-64211445-T-G CDH19 c.977A>C p.His326Pro Missense 7/12 -
6-29911284-T-C HLA-A c.583T>C p.Tyr195His Missense 3/8 -
1-233397909-T-C PCNX2 c.362A>G p.Asn121Ser Missense 3/34 -
19-6670070-C-A TNFSF14 c.11G>T p.Ser4Ile Missense 2/5 -
6-32170264-G-T NOTCH4 c.3344C>A p.Ala1115Asp Missense 21/30 -
15-90344348-C-A ANPEP c.1813G>T p.Val605Leu Missense 12/21 -
19-10397987-A-G ICAM4 c.299A>G p.Gln100Arg Missense 1/3 -
15-90344348-C-T ANPEP c.1813G>A p.Val605Ile Missense 12/21 -
1-94502756-G-A ABCA4 c.3758C>T p.Thr1253Met Missense 25/50 -
15-75014727-G-A CYP1A1 c.712C>T p.Pro238Ser Missense 2/7 -
4-110670416-T-G CFI c.1106A>C p.Tyr369Ser Missense 10/13 -
12-125263039-C-T SCARB1 c.*94G>A - 3_prime_UTR_variant 13/13 -
9-137293514-C-T RXRA c.65C>T p.Pro22Leu Missense 2/10 -
1-120458270-G-C NOTCH2 c.7075C>G p.Pro2359Ala Missense 34/34 -
1-120458270-G-A NOTCH2 c.7075C>T p.Pro2359Ser Missense 34/34 -
5-41186186-T-G C6 c.712A>C p.Asn238His Missense 6/18 -
1-183205708-G-C LAMC2 c.2570G>C p.Arg857Pro Missense 17/23 -
1-22987340-G-A C1QB c.223G>A p.Gly75Arg Missense 3/3 -
1-183205708-G-A LAMC2 c.2570G>A p.Arg857Gln Missense 17/23 -
5-75913927-C-T F2RL2 c.605G>A p.Arg202Gln Missense 2/2 -
3-171431726-C-G PLD1 c.868G>C p.Glu290Gln Missense 9/27 -
6-32133930-G-A EGFL8 c.1-13G>A - 5-UTRSNV 2/9 -
7-99697373-G-A MCM7 c.-489C>T - 5_prime_UTR_variant 3/14 -
11-114310345-C-T REXO2 c.95C>T p.Ala32Val Missense 1/7 -
3-46306642-G-A CCR3 c.47G>A p.Arg16Lys Missense 3/3 -
20-60911434-A-C LAMA5 c.2285T>G p.Phe762Cys Missense 18/80 -
12-110034320-G-A MVK c.1129G>A p.Val377Ile Missense 11/11 -
1-171303690-T-C FMO4 c.968T>C p.Val323Ala Missense 8/10 -
6-32134395-C-G EGFL8 c.222C>G p.Tyr74* Nonsense 3/9 -
9-2643709-G-A VLDLR c.902G>A p.Arg301Gln Missense 6/19 -
6-30680968-C-T MDC1 c.751G>A p.Glu251Lys Missense 5/15 -
4-110682726-C-A CFI c.605G>T p.Arg202Ile Missense 4/13 -
4-110685795-A-G CFI c.380T>C p.Val127Ala Missense 3/13 -
10-81697811-C-G SFTPD c.925G>C p.Glu309Gln Missense 8/8 -
10-81697811-C-T SFTPD c.925G>A p.Glu309Lys Missense 8/8 -
3-99397141-T-C COL8A1 c.-129+2576T>C - intron_variant - 2/4
18-50592531-A-T DCC c.1256A>T p.Lys419Met Missense 7/29 -
6-32007840-C-T CYP21A2 c.797C>T p.Ala266Val Missense 7/10 -
1-186107048-G-A HMCN1 c.13868G>A p.Arg4623Gln Missense 89/107 -
18-50592531-A-G DCC c.1256A>G p.Lys419Arg Missense 7/29 -
6-30570135-C-T PPP1R10 c.2291G>A p.Ser764Asn Missense 19/20 -
10-105816892-C-T COL17A1 c.1306G>A p.Gly436Arg Missense 17/56 -
6-30711759-G-A IER3 c.425C>T p.Ala142Val Missense 2/2 -
6-31864410-C-T EHMT2 c.301G>A p.Asp101Asn Missense 3/28 -
18-74728772-A-G MBP c.177+16T>C - IntronicSNV - 1/6
6-30459130-A-C HLA-E c.827A>C p.Gln276Pro Missense 4/8 -
1-57406638-G-C C8B c.1282C>G p.Arg428Gly Missense 9/12 -
21-47423649-A-G COL6A1 c.2809A>G p.Lys937Glu Missense 35/35 -
17-37296025-C-T PLXDC1 c.137G>A p.Arg46Gln Missense 2/14 -
10-50679030-T-C ERCC6 c.3061A>G p.Ile1021Val Missense 17/21 -
5-37816112-G-A GDNF c.277C>T p.Arg93Trp Missense 3/3 -
20-23065733-C-G CD93 c.1097G>C p.Arg366Pro Missense 1/2 -
6-32063600-T-C TNXB c.2030A>G p.Asp677Gly Missense 3/44 -
20-60893637-C-T LAMA5 c.7112G>A p.Arg2371His Missense 53/80 -
20-60893637-C-A LAMA5 c.7112G>T p.Arg2371Leu Missense 53/80 -
20-60893637-C-G LAMA5 c.7112G>C p.Arg2371Pro Missense 53/80 -
3-48602866-C-A COL7A1 c.8504G>T p.Arg2835Leu Missense 115/118 -
3-48602866-C-T COL7A1 c.8504G>A p.Arg2835His Missense 115/118 -
16-2103389-C-T TSC2 c.272C>T p.Pro91Leu Missense 4/42 -
1-203452409-G-A PRELP c.97G>A p.Gly33Arg Missense 2/3 -
11-117160380-T-G BACE1 c.1108A>C p.Met370Leu Missense 8/8 -
19-50376237-C-G AKT1S1 c.376G>C p.Asp126His Missense 2/5 -
1-120468201-A-T NOTCH2 c.4238T>A p.Leu1413His Missense 25/34 -
19-50376237-C-A AKT1S1 c.376G>T p.Asp126Tyr Missense 2/5 -
21-47423475-A-G COL6A1 c.2635A>G p.Ser879Gly Missense 35/35 -
10-105816916-C-T COL17A1 c.1282G>A p.Gly428Ser Missense 17/56 -
10-105816916-C-G COL17A1 c.1282G>C p.Gly428Arg Missense 17/56 -
4-110667561-T-G CFI c.1246A>C p.Ile416Leu Missense 11/13 -
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
21-47552449-A-C COL6A2 c.3043A>C p.Ile1015Leu Missense 28/28 -
4-110687847-G-A CFI c.191C>T p.Pro64Leu Missense 2/13 -
9-88574781-T-C NAA35 c.347T>C p.Leu116Ser Missense 5/23 -
8-2005572-G-A MYOM2 c.370G>A p.Asp124Asn Missense 4/37 -
9-88574781-T-G NAA35 c.347T>G p.Leu116Trp Missense 5/23 -
6-32065113-C-T TNXB c.517G>A p.Ala173Thr Missense 3/44 -
9-27197588-C-T TEK c.1900C>T p.Leu634Phe Missense 12/23 -
6-31939416-T-C DXO c.37A>G p.Thr13Ala Missense 2/7 -
11-34475387-C-G CAT c.625C>G p.His209Asp Missense 6/13 -
1-171605478-G-A MYOC c.1102C>T p.Gln368* Nonsense 3/3 -
6-7229356-G-A RREB1 c.1024G>A p.Asp342Asn Missense 10/12 -
16-2138546-G-A TSC2 c.5359G>A p.Gly1787Ser Missense 42/42 -
1-57333304-C-T C8A c.100C>T p.Pro34Ser Missense 2/11 -
22-38478793-C-T SLC16A8 c.88G>A p.Gly30Ser Missense 2/5 -
17-66878774-G-C ABCA8 c.3674C>G p.Thr1225Arg Missense 28/38 -
12-57587039-G-A LRP1 c.7636G>A p.Gly2546Ser Missense 46/89 -
5-35065328-C-G PRLR c.1732G>C p.Glu578Gln Missense 10/10 -
9-123782336-G-A C5 c.1424C>T p.Ala475Val Missense 12/41 -
16-17202757-C-T XYLT1 c.2675G>A p.Arg892Gln Missense 12/12 -
12-57590915-G-A LRP1 c.9043G>A p.Gly3015Ser Missense 56/89 -
5-141980317-C-T FGF1 c.223G>A p.Glu75Lys Missense 3/4 -
1-183212412-G-A LAMC2 c.3459G>A p.Arg1153Arg Synonymous 23/23 -
5-141980317-C-G FGF1 c.223G>C p.Glu75Gln Missense 3/4 -
3-48623625-C-T COL7A1 c.3605G>A p.Arg1202His Missense 27/118 -
4-128694557-G-A SLC25A31 c.776G>A p.Arg259Gln Missense 6/6 -
12-57589510-T-C LRP1 c.8507T>C p.Val2836Ala Missense 53/89 -
6-30671969-G-C MDC1 c.4991C>G p.Thr1664Ser Missense 10/15 -
6-7240793-C-T RREB1 c.3809-5864C>T - IntronicSNV - 10/11
9-136314986-G-A ADAMTS13 c.2944G>A p.Gly982Arg Missense 23/29 -
22-42523475-C-T CYP2D6 c.1147G>A p.Glu383Lys Missense 7/9 -
1-110256120-T-G GSTM5 c.192T>G p.Ile64Met Missense 4/8 -
12-9321534-G-A PZP c.2038C>T p.Arg680* Nonsense 17/36 -
6-161011993-G-T LPA c.3770C>A p.Thr1257Lys Missense 23/39 -
6-161011993-G-A LPA c.3770C>T p.Thr1257Met Missense 23/39 -
22-39621819-G-A PDGFB c.635C>T p.Thr212Met Missense 6/7 -
7-73482987-G-A ELN c.2132G>A p.Gly711Asp Missense 33/33 -
6-32188815-C-G NOTCH4 c.739G>C p.Gly247Arg Missense 4/30 -
6-31734385-C-T VWA7 c.2039G>A p.Arg680Gln Missense 14/17 -
15-89758328-A-T RLBP1 c.488T>A p.Ile163Asn Missense 6/9 -
6-31734385-C-A VWA7 c.2039G>T p.Arg680Leu Missense 14/17 -
19-7150532-G-A INSR c.2243C>T p.Ser748Leu Missense 11/22 -
10-45941076-A-C ALOX5 c.1966A>C p.Lys656Gln Missense 14/14 -
15-66615250-A-G DIS3L c.1303A>G p.Ile435Val Missense 10/17 -
8-20005574-A-G SLC18A1 c.1154T>C p.Leu385Pro Missense 14/17 -
1-230979207-C-A C1orf198 c.820G>T p.Ala274Ser Missense 3/4 -
1-151491836-C-T CGN c.841C>T p.Arg281Trp Missense 2/21 -
1-203452929-G-A PRELP c.617G>A p.Arg206Lys Missense 2/3 -
13-28971113-T-C FLT1 c.1644A>G p.Ile548Met Missense 12/30 -
15-75015045-C-G CYP1A1 c.394G>C p.Ala132Pro Missense 2/7 -
16-31373457-C-T ITGAX c.1148C>T p.Pro383Leu Missense 11/30 -
22-38476276-C-T SLC16A8 c.1198+571G>A - IntronicSNV - 4/4
3-171394618-T-A PLD1 c.2002A>T p.Ile668Phe Missense 18/27 -
11-10514930-A-G AMPD3 c.1001A>G p.Asn334Ser Missense 7/15 -
10-69672479-G-A SIRT1 c.1606G>A p.Glu536Lys Missense 8/9 -
17-80320303-G-T TEX19 c.277G>T p.Gly93Trp Missense 2/2 -
4-37445868-G-C NWD2 c.2258G>C p.Arg753Pro Missense 7/7 -
4-37445868-G-A NWD2 c.2258G>A p.Arg753His Missense 7/7 -
1-230979207-C-T C1orf198 c.820G>A p.Ala274Thr Missense 3/4 -
11-6432427-G-A APBB1 c.151C>T p.Arg51Cys Missense 2/15 -
17-4535186-T-C ALOX15 c.1807A>G p.Met603Val Missense 13/14 -
17-4535186-T-G ALOX15 c.1807A>C p.Met603Leu Missense 13/14 -
13-31821256-C-G B3GLCT c.347+20C>G - IntronicSNV - 5/14
13-31821256-C-A B3GLCT c.347+20C>A - IntronicSNV - 5/14
3-99998531-G-C TBC1D23 c.92G>C p.Cys31Ser Missense 2/18 -
21-46888545-G-A COL18A1 c.1036G>A p.Ala346Thr Missense 2/41 -
1-151496718-C-T CGN c.1285C>T p.Arg429Cys Missense 7/21 -
2-165584614-T-C COBLL1 c.526A>G p.Ile176Val Missense 4/14 -
15-42448659-C-A PLA2G4F c.89G>T p.Gly30Val Missense 1/20 -
15-89755113-A-C RLBP1 c.545T>G p.Phe182Cys Missense 7/9 -
4-128694706-C-T SLC25A31 c.925C>T p.His309Tyr Missense 6/6 -
12-7241570-C-T C1R c.781G>A - missense_variant 6/9 -
12-7241570-C-A C1R c.781G>T - missense_variant 6/9 -
10-98825794-C-T SLIT1 c.463G>A p.Gly155Arg Missense 5/37 -
20-23065548-C-T CD93 c.1282G>A p.Val428Met Missense 1/2 -
15-62283295-T-C VPS13C c.1355-2A>G - IntronicSNV - 15/82
8-123966052-A-G ZHX2 c.2302A>G p.Thr768Ala Missense 3/4 -
11-59940500-C-T MS4A6A c.736G>A p.Val246Met Missense 7/7 -
14-62207575-G-A HIF1A c.1762G>A p.Ala588Thr Missense 12/15 -
16-17292204-G-C XYLT1 c.1154C>G p.Pro385Arg Missense 5/12 -
17-73738426-G-A ITGB4 c.2638G>A p.Asp880Asn Missense 24/40 -
1-207646222-G-A CR2 c.1676G>A p.Gly559Glu Missense 10/19 -
1-207646222-G-C CR2 c.1676G>C p.Gly559Ala Missense 10/19 -
1-183090920-A-C LAMC1 c.2053A>C p.Thr685Pro Missense 12/28 -
1-100349757-A-G AGL c.2390A>G p.Asn797Ser Missense 18/34 -
1-230379092-A-T GALNT2 c.648A>T p.Gln216His Missense 7/16 -
12-123806084-T-C SBNO1 c.2318A>G p.Asn773Ser Missense 17/32 -
10-50667120-T-G ERCC6 c.4223A>C p.Glu1408Ala Missense 21/21 -
16-2112998-A-G TSC2 c.1387A>G p.Ile463Val Missense 14/42 -
17-80280768-G-A SECTM1 c.523C>T p.Gln175* Nonsense 4/5 -
17-78896587-G-A RPTOR c.2584G>A p.Ala862Thr Missense 22/34 -
17-73728300-G-C ITGB4 c.1434G>C p.Gln478His Missense 12/40 -
16-17228439-C-T XYLT1 c.1918G>A p.Gly640Ser Missense 9/12 -
22-38516893-C-T PLA2G6 c.1453G>A p.Gly485Ser Missense 11/16 -
1-120458122-A-T NOTCH2 c.7223T>A p.Leu2408His Missense 34/34 -
6-401527-C-T IRF4 c.846C>T p.Asp282Asp Synonymous 7/9 -
11-59940500-C-A MS4A6A c.736G>T p.Val246Leu Missense 7/7 -
21-46876004-C-T COL18A1 c.560C>T p.Thr187Ile Missense 1/41 -
1-183197677-C-A LAMC2 c.1637C>A p.Ala546Asp Missense 11/23 -
4-55972029-C-T KDR c.1615G>A p.Gly539Arg Missense 12/30 -
9-130588920-G-A ENG c.392C>T p.Pro131Leu Missense 4/14 -
1-183090920-A-G LAMC1 c.2053A>G p.Thr685Ala Missense 12/28 -
4-110681766-A-G CFI c.685T>C p.Cys229Arg Missense 5/13 -
9-15175098-G-A TTC39B c.1877C>T p.Pro626Leu Missense 19/20 -
4-110670680-A-G CFI c.1019T>C p.Ile340Thr Missense 9/13 -
5-75913784-T-C F2RL2 c.748A>G p.Asn250Asp Missense 2/2 -
16-2124321-C-A TSC2 c.2476C>A p.Leu826Met Missense 22/42 -
10-50667120-T-C ERCC6 c.4223A>G p.Glu1408Gly Missense 21/21 -
3-9974919-C-T IL17RC c.1760C>T p.Ala587Val Missense 18/18 -
13-47260054-T-C LRCH1 c.700T>C p.Ser234Pro Missense 5/19 -
2-165551103-T-G COBLL1 c.2913A>C p.Lys971Asn Missense 12/14 -
20-23064912-T-C CD93 c.1918A>G p.Met640Val Missense 1/2 -
1-120459251-G-T NOTCH2 c.6094C>A p.His2032Asn Missense 34/34 -
2-187511466-A-G ITGAV c.1213A>G p.Ile405Val Missense 13/30 -
4-110682680-C-G CFI c.651G>C p.Gln217His Missense 4/13 -
1-120458122-A-G NOTCH2 c.7223T>C p.Leu2408Pro Missense 34/34 -
2-21227503-T-C APOB c.11833A>G p.Thr3945Ala Missense 27/29 -
21-46876004-C-A COL18A1 c.560C>A p.Thr187Asn Missense 1/41 -
9-6250600-G-T IL33 c.217+1G>T - IntronicSNV - 3/7
8-18258126-A-T NAT2 c.613A>T p.Met205Leu Missense 2/2 -
22-45972941-G-T FBLN1 c.1925G>T p.Arg642Leu Missense 16/17 -
22-45972941-G-A FBLN1 c.1925G>A p.Arg642Gln Missense 16/17 -
21-46932115-G-T COL18A1 c.4354G>T - missense_variant 41/41 -
1-94543389-C-T ABCA4 c.1411G>A p.Glu471Lys Missense 11/50 -
21-46932115-G-C COL18A1 c.4354G>C - missense_variant 41/41 -
7-99802331-C-T STAG3 c.2884C>T p.Arg962Trp Missense 27/34 -
3-9965636-C-A IL17RC c.649C>A p.His217Asn Missense 7/18 -
6-32041621-G-T TNXB c.4484C>A p.Thr1495Lys Missense 12/44 -
6-32178570-C-T NOTCH4 c.2824G>A p.Gly942Arg Missense 18/30 -
6-70990715-C-T COL9A1 c.904G>A p.Gly302Ser Missense 9/38 -
12-52579331-C-T KRT80 c.341G>A p.Arg114His Missense 2/9 -
9-87338515-C-A NTRK2 c.611C>A p.Pro204His Missense 9/15 -
10-88422062-G-T OPN4 c.1127G>T p.Arg376Leu Missense 8/10 -
17-73728022-G-A ITGB4 c.1345G>A p.Gly449Ser Missense 11/40 -
10-88422062-G-A OPN4 c.1127G>A p.Arg376His Missense 8/10 -
6-32170037-A-C NOTCH4 c.3571T>G p.Cys1191Gly Missense 21/30 -
6-32170037-A-G NOTCH4 c.3571T>C p.Cys1191Arg Missense 21/30 -
19-1059056-G-A ABCA7 c.5435G>A p.Arg1812His Missense 40/47 -
19-1059056-G-T ABCA7 c.5435G>T p.Arg1812Leu Missense 40/47 -
19-54848826-C-A LILRA4 c.797G>T p.Arg266Leu Missense 5/8 -
1-182026596-C-T ZNF648 c.550G>A p.Ala184Thr Missense 2/2 -
2-21225912-C-G APOB c.12382G>C p.Val4128Leu Missense 29/29 -
2-21225912-C-T APOB c.12382G>A p.Val4128Met Missense 29/29 -
2-227660067-C-T IRS1 c.3388G>A p.Gly1130Ser Missense 1/2 -
17-61562654-C-T ACE c.1979C>T p.Ser660Phe Missense 13/25 -
17-61562654-C-G ACE c.1979C>G p.Ser660Cys Missense 13/25 -
15-42631950-C-T GANC c.1927C>T p.Arg643Cys Missense 17/24 -
16-76486472-A-G CNTNAP4 c.1136A>G - missense_variant 9/25 -
7-94038649-G-A COL1A2 c.808G>A p.Val270Ile Missense 17/52 -
22-42526712-G-T CYP2D6 c.82C>A p.Arg28Ser Missense 1/9 -
18-18571171-T-A ROCK1 c.2109A>T p.Gln703His Missense 18/33 -
4-1806629-C-T FGFR3 c.1345C>T p.Pro449Ser Missense 10/18 -
13-28885760-G-A FLT1 c.3602C>T p.Pro1201Leu Missense 27/30 -
6-116422098-C-A NT5DC1 c.5C>A p.Ala2Asp Missense 1/12 -
6-116325150-C-G FRK c.356G>C p.Gly119Ala Missense 2/8 -
15-75012979-G-T CYP1A1 c.1390C>A p.Arg464Ser Missense 7/7 -
16-23200921-G-A SCNN1G c.547G>A p.Gly183Ser Missense 3/13 -
8-6371240-C-T ANGPT2 c.1158G>A p.Leu386Leu Synonymous 7/9 -
8-6371240-C-G ANGPT2 c.1158G>C p.Leu386Phe Missense 7/9 -
8-6371240-C-A ANGPT2 c.1158G>T p.Leu386Phe Missense 7/9 -
6-30652729-G-A PPP1R18 c.1067C>T p.Pro356Leu Missense 1/3 -
15-42734562-G-C ZNF106 c.3403C>G p.Arg1135Gly Missense 7/19 -
1-155028450-C-A ADAM15 c.718C>A p.Leu240Met Missense 8/21 -
22-42526712-G-A CYP2D6 c.82C>T p.Arg28Cys Missense 1/9 -
12-57556205-C-T LRP1 c.2308C>T p.Arg770Trp Missense 14/89 -
12-123798209-T-C SBNO1 c.3175A>G p.Met1059Val Missense 24/32 -
9-15214237-T-C TTC39B c.382A>G p.Thr128Ala Missense 4/20 -
9-15214237-T-G TTC39B c.382A>C p.Thr128Pro Missense 4/20 -
15-42568547-C-G GANC c.31C>G p.Leu11Val Missense 2/24 -
1-27699991-G-T FCN3 c.253C>A p.Arg85Arg Synonymous 4/8 -
1-27699991-G-A FCN3 c.253C>T p.Arg85Trp Missense 4/8 -
10-105798263-C-T COL17A1 c.2971G>A p.Val991Met Missense 45/56 -
15-66812943-C-T ZWILCH c.536C>T p.Ser179Phe Missense 6/19 -
17-4540514-C-T ALOX15 c.847G>A p.Gly283Arg Missense 7/14 -
21-47423649-A-C COL6A1 c.2809A>C p.Lys937Gln Missense 35/35 -
17-1673303-C-T SERPINF1 c.242C>T p.Ser81Phe Missense 3/8 -
15-81592384-C-T IL16 c.2717C>T p.Ser906Leu Missense 14/19 -
4-110638764-A-G PLA2G12A c.391T>C p.Cys131Arg Missense 3/4 -
6-76660397-T-C IMPG1 c.1706A>G p.Lys569Arg Missense 13/17 -
6-32159674-G-A GPSM3 c.157C>T p.Arg53Cys Missense 7/8 -
7-99706052-C-A AP4M1 c.*1547C>A - IntergenicSNV 15/15 -
19-6707931-C-T C3 c.1855G>A p.Val619Met Missense 15/41 -
5-40959622-C-T C7 c.1561C>T p.Arg521Cys Missense 12/18 -
19-1056931-G-A ABCA7 c.4612G>A p.Val1538Ile Missense 34/47 -
6-161137766-G-A PLG c.758G>A p.Arg253His Missense 7/19 -
9-107554263-C-A ABCA1 c.5774G>T p.Arg1925Leu Missense 43/50 -
7-150696076-G-A NOS3 c.859G>A p.Asp287Asn Missense 8/27 -
1-20440717-C-T PLA2G2D c.*32G>A - 3-UTRSNV 3/3 -
15-90328681-G-A ANPEP c.2803C>T p.Arg935Trp Missense 21/21 -
8-18729350-G-A PSD3 c.1024C>T p.Arg342Cys Missense 3/16 -
8-23058188-T-C TNFRSF10A c.703+12A>G - IntronicSNV - 5/9
8-23058188-T-A TNFRSF10A c.703+12A>T - IntronicSNV - 5/9
5-41176765-G-A C6 c.980C>T p.Thr327Met Missense 8/18 -
4-57830655-G-A NOA1 c.1802C>T p.Pro601Leu Missense 6/7 -
11-10327547-C-G ADM c.150C>G p.Ser50Arg Missense 3/4 -
11-36615697-C-T RAG2 c.22G>A p.Val8Ile Missense 2/2 -
1-207850900-G-C CR1L c.264G>C p.Lys88Asn Missense 2/12 -
15-66621382-G-A DIS3L c.2027G>A p.Arg676His Missense 13/17 -
9-133928039-G-A LAMC3 c.1792G>A p.Gly598Arg Missense 10/28 -
20-23065733-C-T CD93 c.1097G>A p.Arg366His Missense 1/2 -
1-196965193-G-A CFHR5 c.832G>A p.Gly278Ser Missense 6/10 -
8-2054361-C-T MYOM2 c.2972C>T p.Ser991Phe Missense 23/37 -
10-135345657-G-T CYP2E1 c.517G>T p.Gly173Cys Missense 4/9 -
10-135345657-G-A CYP2E1 c.517G>A p.Gly173Ser Missense 4/9 -
4-110681679-C-T CFI c.772G>A p.Ala258Thr Missense 5/13 -
9-107554263-C-T ABCA1 c.5774G>A p.Arg1925Gln Missense 43/50 -
19-54848178-C-T LILRA4 c.1189G>A p.Gly397Ser Missense 6/8 -
6-31742367-C-T VWA7 c.647G>A p.Ser216Asn Missense 5/17 -
4-110890274-G-A EGF c.1723G>A p.Gly575Arg Missense 11/23 -
18-334748-C-T COLEC12 c.1810G>A p.Asp604Asn Missense 6/10 -
18-334748-C-G COLEC12 c.1810G>C p.Asp604His Missense 6/10 -
6-31778948-C-T HSPA1L c.802G>A p.Ala268Thr Missense 2/2 -
10-55973766-C-T PCDH15 c.1028G>A p.Arg343Lys Missense 10/33 -
10-26792144-G-A APBB1IP c.472G>A p.Ala158Thr Missense 6/15 -
20-60908497-G-A LAMA5 c.3062C>T p.Ala1021Val Missense 25/80 -
6-70972993-T-C COL9A1 c.1349A>G p.Glu450Gly Missense 19/38 -
19-47823149-C-G C5AR1 c.115C>G p.Leu39Val Missense 2/2 -
3-171455697-G-C PLD1 c.145C>G p.Pro49Ala Missense 2/27 -
11-116661001-G-A APOA5 c.944C>T p.Ala315Val Missense 4/4 -
15-42743265-A-G ZNF106 c.1136T>C p.Leu379Pro Missense 2/19 -
6-160969693-T-C LPA c.4974-2A>G - IntronicSNV - 30/38
19-51728729-G-A CD33 c.293G>A p.Arg98Lys Missense 2/7 -
7-2752456-C-T AMZ1 c.1441C>T p.Arg481* Nonsense 7/7 -
1-183196682-A-C LAMC2 c.1318A>C p.Ile440Leu Missense 10/23 -
5-35065862-C-G PRLR c.1198G>C p.Glu400Gln Missense 10/10 -
17-80203891-C-T CSNK1D c.1222G>A p.Gly408Ser Missense 9/10 -
1-183184663-G-A LAMC2 c.344G>A p.Arg115Gln Missense 3/23 -
1-203452409-G-T PRELP c.97G>T p.Gly33Trp Missense 2/3 -
3-118624560-C-T IGSF11 c.586G>A p.Val196Ile Missense 5/7 -
11-65639462-G-C EFEMP2 c.139C>G p.Pro47Ala Missense 3/11 -
11-65639462-G-A EFEMP2 c.139C>T p.Pro47Ser Missense 3/11 -
6-32097421-G-A FKBPL c.137C>T p.Thr46Met Missense 2/2 -
4-110662068-A-G CFI c.1733T>C p.Ile578Thr Missense 13/13 -
7-95024007-G-C PON3 c.94C>G p.Arg32Gly Missense 2/9 -
12-9346789-A-G PZP c.1138T>C p.Phe380Leu Missense 11/36 -
12-9346789-A-T PZP c.1138T>A p.Phe380Ile Missense 11/36 -
8-6599270-G-A AGPAT5 c.584G>A p.Arg195His Missense 5/8 -
5-169230145-C-A DOCK2 c.2638C>A p.Leu880Met Missense 26/52 -
15-42585099-A-G GANC c.496A>G p.Ile166Val Missense 5/24 -
4-110682771-C-T CFI c.560G>A p.Arg187Gln Missense 4/13 -
15-89442723-T-A MFGE8 c.1067A>T p.Asn356Ile Missense 8/8 -
1-151498143-G-A CGN c.1640G>A p.Arg547Lys Missense 9/21 -
20-50048830-C-T NFATC2 c.2496G>A p.Met832Ile Missense 9/11 -
18-50592531-A-C DCC c.1256A>C p.Lys419Thr Missense 7/29 -
15-66857613-A-G LCTL c.91T>C p.Ser31Pro Missense 2/14 -
6-31915584-A-C CFB c.724A>C p.Ile242Leu Missense 5/18 -
6-31915584-A-G CFB c.724A>G p.Ile242Val Missense 5/18 -
1-57397497-A-T C8B c.1607T>A p.Val536Asp Missense 11/12 -
15-62212467-C-T VPS13C c.7147G>A p.Val2383Ile Missense 55/83 -
7-99704892-C-T AP4M1 c.*387C>T - IntergenicSNV 15/15 -
17-37814687-G-A STARD3 c.446G>A p.Cys149Tyr Missense 6/15 -
20-52774675-G-C CYP24A1 c.1186C>G p.Arg396Gly Missense 9/12 -
20-52774675-G-A CYP24A1 c.1186C>T p.Arg396Trp Missense 9/12 -
5-41155088-T-C C6 c.2087A>G p.Asp696Gly Missense 14/18 -
22-45923827-A-C FBLN1 c.422A>C p.Gln141Pro Missense 4/17 -
6-70916662-C-T COL19A1 c.3281C>T p.Pro1094Leu Missense 50/51 -
20-60899513-C-G LAMA5 c.5627G>C p.Gly1876Ala Missense 42/80 -
20-60899513-C-A LAMA5 c.5627G>T p.Gly1876Val Missense 42/80 -
5-39331894-G-A C9 c.499C>T p.Pro167Ser Missense 5/11 -
22-45923827-A-T FBLN1 c.422A>T p.Gln141Leu Missense 4/17 -
22-45923827-A-G FBLN1 c.422A>G p.Gln141Arg Missense 4/17 -
16-23200963-G-A SCNN1G c.589G>A p.Glu197Lys Missense 3/13 -
1-183190055-C-A LAMC2 c.599C>A p.Ala200Glu Missense 5/23 -
2-215891583-C-G ABCA12 c.1141G>C p.Val381Leu Missense 10/53 -
15-42437975-C-T PLA2G4F c.1661G>A p.Cys554Tyr Missense 15/20 -
15-81591816-A-G IL16 c.2149A>G p.Ile717Val Missense 14/19 -
3-52550173-G-A STAB1 c.4063G>A p.Glu1355Lys Missense 38/69 -
21-47544599-G-A COL6A2 c.1706G>A p.Arg569Gln Missense 22/28 -
5-174869045-G-A DRD1 c.1058C>T p.Ala353Val Missense 2/2 -
17-37817254-G-T STARD3 c.1055G>T p.Arg352Leu Missense 13/15 -
17-37817254-G-A STARD3 c.1055G>A p.Arg352His Missense 13/15 -
17-1673263-G-C SERPINF1 c.202G>C p.Val68Leu Missense 3/8 -
5-156991445-G-A ADAM19 c.187C>T p.Leu63Phe Missense 3/23 -
13-31819325-T-C B3GLCT c.271-1835T>C - IntronicSNV - 4/14
6-76728524-C-T IMPG1 c.718G>A p.Val240Ile Missense 7/17 -
15-58855748-C-T LIPC c.1214C>T p.Thr405Met Missense 8/9 -
2-188348943-G-A TFPI c.536C>T p.Pro179Leu Missense 6/8 -
7-22771038-A-T IL6 c.485A>T p.Asp162Val Missense 5/5 -
16-2138570-C-T TSC2 c.5383C>T p.Arg1795Cys Missense 42/42 -
20-52773992-C-T CYP24A1 c.1369G>A p.Val457Ile Missense 10/12 -
1-159683814-G-A CRP c.176C>T p.Thr59Met Missense 2/2 -
20-61450599-C-T COL9A3 c.209C>T p.Pro70Leu Missense 4/32 -
17-4542349-T-C ALOX15 c.416A>G p.Tyr139Cys Missense 3/14 -
6-32150063-C-G AGER c.925G>C p.Gly309Arg Missense 8/11 -
1-207307932-G-A C4BPA c.1268G>A p.Gly423Glu Missense 9/12 -
1-155028692-C-A ADAM15 c.881C>A p.Pro294His Missense 9/21 -
1-155028692-C-T ADAM15 c.881C>T p.Pro294Leu Missense 9/21 -
8-2054077-A-G MYOM2 c.2780A>G p.Tyr927Cys Missense 22/37 -
22-45919038-G-A FBLN1 c.186-2385G>A - IntronicSNV - 2/16
9-101912471-A-G TGFBR1 c.*884A>G - 3-UTRSNV 8/8 -
3-133496032-G-T TF c.2012G>T p.Gly671Val Missense 16/17 -
1-103355059-G-T COL11A1 c.4068C>A p.Asp1356Glu Missense 57/65 -
6-76751738-C-T IMPG1 c.173G>A p.Arg58Lys Missense 2/17 -
1-57395228-G-A C8B c.1625C>T p.Thr542Ile Missense 12/12 -
20-52773992-C-A CYP24A1 c.1369G>T p.Val457Phe Missense 10/12 -
20-61450599-C-G COL9A3 c.209C>G p.Pro70Arg Missense 4/32 -
20-61467564-C-G COL9A3 c.1427C>G p.Pro476Arg Missense 28/32 -
2-189861933-C-G COL3A1 c.1804C>G p.Pro602Ala Missense 25/51 -
19-51742917-G-A CD33 c.1069G>A p.Glu357Lys Missense 7/7 -
6-32150063-C-T AGER c.925G>A p.Gly309Arg Missense 8/11 -
1-233398749-T-G PCNX2 c.314A>C p.Asp105Ala Missense 2/34 -
16-66426144-G-A CDH5 c.1075G>A p.Val359Ile Missense 7/12 -
1-15833555-T-G CASP9 c.220A>C p.Met74Leu Missense 4/9 -
1-15833555-T-C CASP9 c.220A>G p.Met74Val Missense 4/9 -
3-9959640-T-C IL17RC c.161T>C p.Val54Ala Missense 3/18 -
8-2054077-A-C MYOM2 c.2780A>C p.Tyr927Ser Missense 22/37 -
3-171404481-G-T PLD1 c.1861C>A p.His621Asn Missense 16/27 -
9-101912471-A-T TGFBR1 c.*884A>T - 3-UTRSNV 8/8 -
17-66878099-C-G ABCA8 c.3731G>C p.Cys1244Ser Missense 29/38 -
8-38871509-G-A ADAM9 c.280G>A p.Val94Ile Missense 4/22 -
7-99786108-T-C STAG3 c.466T>C p.Ser156Pro Missense 6/34 -
2-21228263-G-A APOB c.11477C>T p.Thr3826Met Missense 26/29 -
19-51742917-G-T CD33 c.1069G>T p.Glu357* Nonsense 7/7 -
21-47546080-G-C COL6A2 c.2351G>C p.Arg784Pro Missense 26/28 -
21-47546080-G-A COL6A2 c.2351G>A p.Arg784His Missense 26/28 -
1-196711067-G-T CFH c.3019G>T p.Val1007Leu Missense 19/22 -
1-196711067-G-A CFH c.3019G>A p.Val1007Met Missense 19/22 -
9-133942515-C-T LAMC3 c.2516C>T p.Thr839Met Missense 14/28 -
1-196711067-G-C CFH c.3019G>C p.Val1007Leu Missense 19/22 -
19-5844796-C-T FUT3 c.55G>A p.Ala19Thr Missense 3/3 -
15-63421686-A-T LACTB c.955A>T p.Ser319Cys Missense 5/6 -
21-47423706-G-A COL6A1 c.2866G>A p.Glu956Lys Missense 35/35 -
4-110667387-G-A CFI c.1420C>T p.Arg474* Nonsense 11/13 -
20-56735870-G-T C20orf85 c.406G>T p.Val136Leu Missense 4/4 -
4-110681789-G-T CFI c.662C>A p.Ser221Tyr Missense 5/13 -
1-94543268-C-T ABCA4 c.1532G>A p.Arg511His Missense 11/50 -
4-110662063-G-A CFI c.1738C>T p.Gln580* Nonsense 13/13 -
20-56735870-G-A C20orf85 c.406G>A p.Val136Met Missense 4/4 -
7-99764240-A-G GAL3ST4 c.314T>C p.Phe105Ser Missense 3/4 -
1-196683002-A-C CFH c.1474A>C p.Ile492Leu Missense 10/22 -
20-44530943-G-A PLTP c.1138C>T p.Arg380Trp Missense 12/16 -
18-334837-G-A COLEC12 c.1721C>T p.Pro574Leu Missense 6/10 -
1-233122172-G-A PCNX2 c.5906C>T p.Thr1969Met Missense 33/34 -
8-135649838-G-A ZFAT c.278C>T p.Pro93Leu Missense 4/17 -
5-156918697-G-A ADAM19 c.2021C>T p.Pro674Leu Missense 18/23 -
19-1051944-G-A ABCA7 c.2966G>A p.Arg989His Missense 22/47 -
22-39621784-G-C PDGFB c.670C>G p.Arg224Gly Missense 6/7 -
21-46309312-G-A ITGB2 c.1756C>T p.Arg586Trp Missense 13/16 -
7-150698352-G-A NOS3 c.1267G>A p.Ala423Thr Missense 11/27 -
1-103428312-G-T COL11A1 c.2573C>A p.Pro858Gln Missense 37/65 -
20-23028659-G-A THBD c.1483C>T p.Pro495Ser Missense 1/1 -
18-18546896-T-C ROCK1 c.3334A>G p.Thr1112Ala Missense 27/33 -
9-101816909-A-G COL15A1 c.3002A>G p.Lys1001Arg Missense 32/42 -
22-31533855-G-C PLA2G3 c.907C>G p.Arg303Gly Missense 4/7 -
1-120465364-C-T NOTCH2 c.4897G>A p.Val1633Ile Missense 27/34 -
4-110682726-C-T CFI c.605G>A p.Arg202Lys Missense 4/13 -
12-7241570-C-G C1R c.781G>C - missense_variant 6/9 -
1-186151390-A-G HMCN1 c.16385A>G p.Gln5462Arg Missense 105/107 -
15-42702858-G-A CAPN3 c.2257G>A p.Asp753Asn Missense 21/24 -
3-99481539-G-T COL8A1 c.-4+17674G>T - intron_variant - 3/4
6-32063460-G-A TNXB c.2170C>T p.Arg724Cys Missense 3/44 -
4-110638824-C-T PLA2G12A c.331G>A p.Asp111Asn Missense 3/4 -
6-32006867-G-A CYP21A2 c.293-4G>A - IntronicSNV - 2/9
4-178359970-A-C AGA c.436T>G p.Leu146Val Missense 4/9 -
4-110667408-A-G CFI c.1399T>C p.Cys467Arg Missense 11/13 -
1-173884010-A-T SERPINC1 c.89T>A p.Val30Glu Missense 2/7 -
17-48263206-T-C COL1A1 c.4181A>G p.Asn1394Ser Missense 50/51 -
3-52556127-A-G STAB1 c.6346A>G p.Thr2116Ala Missense 59/69 -
15-66807942-G-A ZWILCH c.280G>A p.Glu94Lys Missense 4/19 -
20-44538243-G-A PLTP c.397C>T p.Arg133Trp Missense 5/16 -
16-23079408-T-C USP31 c.4018A>G p.Ser1340Gly Missense 16/16 -
18-346700-C-T COLEC12 c.922G>A p.Glu308Lys Missense 5/10 -
13-111143601-A-G COL4A2 c.3368A>G p.Glu1123Gly Missense 37/48 -
6-43582176-C-A POLH c.2024C>A p.Ser675Tyr Missense 11/11 -
20-60885119-C-A LAMA5 c.10753G>T p.Asp3585Tyr Missense 78/80 -
3-49568543-C-G DAG1 c.599C>G p.Thr200Ser Missense 6/6 -
2-237490000-C-T ACKR3 c.892C>T p.His298Tyr Missense 2/2 -
2-21232125-C-T APOB c.7615G>A p.Val2539Ile Missense 26/29 -
6-30675997-C-T MDC1 c.2359G>A p.Gly787Arg Missense 8/15 -
3-52556127-A-C STAB1 c.6346A>C p.Thr2116Pro Missense 59/69 -
2-9683364-T-C ADAM17 c.148A>G p.Ile50Val Missense 2/19 -
15-42436737-C-T PLA2G4F c.1886G>A p.Arg629His Missense 17/20 -
3-48630252-G-A COL7A1 c.802C>T p.Pro268Ser Missense 6/118 -
16-76513340-C-T CNTNAP4 c.1784C>T - missense_variant 13/25 -
2-20403998-G-A SDC1 c.203C>T p.Thr68Met Missense 4/6 -
5-41158777-C-T C6 c.1967G>A p.Arg656Gln Missense 13/18 -
4-128608927-G-A INTU c.1354G>A p.Ala452Thr Missense 8/16 -
5-156915323-G-A ADAM19 c.2500C>T p.Pro834Ser Missense 21/23 -
15-62160901-C-T VPS13C c.10691G>A p.Arg3564His Missense 79/83 -
6-32020572-C-T TNXB c.8984G>A p.Arg2995His Missense 26/44 -
9-77684824-G-C NMRK1 c.304C>G p.Leu102Val Missense 5/9 -
1-196952092-C-T CFHR5 c.136C>T p.Pro46Ser Missense 2/10 -
6-70873265-C-G COL19A1 c.2377C>G p.Pro793Ala Missense 36/51 -
2-206590654-C-T NRP2 c.838C>T p.Pro280Ser Missense 6/17 -
19-5844804-C-G FUT3 c.47G>C p.Cys16Ser Missense 3/3 -
6-7231523-C-T RREB1 c.3191C>T p.Pro1064Leu Missense 10/12 -
16-57394457-C-T CCL22 c.182C>T p.Pro61Leu Missense 2/3 -
11-34482910-G-A CAT c.1169G>A p.Gly390Asp Missense 9/13 -
13-95705380-G-A ABCC4 c.3425C>T p.Thr1142Met Missense 27/31 -
4-110667600-C-T CFI c.1207G>A p.Asp403Asn Missense 11/13 -
5-35065328-C-T PRLR c.1732G>A p.Glu578Lys Missense 10/10 -
8-2063891-G-C MYOM2 c.3320G>C p.Gly1107Ala Missense 26/37 -
17-74383648-C-T SPHK1 c.1178C>T p.Pro393Leu Missense 6/6 -
1-186141181-C-G HMCN1 c.15732C>G p.His5244Gln Missense 102/107 -
1-186141181-C-A HMCN1 c.15732C>A p.His5244Gln Missense 102/107 -
4-57797037-G-T REST c.2013G>T p.Glu671Asp Missense 4/4 -
7-17379805-A-G AHR c.2356A>G p.Met786Val Missense 10/11 -
10-81318680-C-T SFTPA2 c.254G>A p.Arg85His Missense 4/6 -
16-23079836-C-T USP31 c.3590G>A p.Arg1197Gln Missense 16/16 -
4-57797230-C-T REST c.2206C>T p.Pro736Ser Missense 4/4 -
12-72666650-A-T TRHDE c.92A>T p.Glu31Val Missense 1/19 -
2-188349633-G-T TFPI c.440C>A p.Thr147Lys Missense 5/8 -
7-75932207-C-T HSPB1 c.178C>T p.Pro60Ser Missense 1/3 -
4-57797037-G-A REST c.2013G>A p.Glu671Glu Synonymous 4/4 -
7-99654862-T-G ZSCAN21 c.233T>G p.Ile78Ser Missense 2/4 -
3-52543906-C-A STAB1 c.2368C>A p.Leu790Ile Missense 23/69 -
10-81318680-C-G SFTPA2 c.254G>C p.Arg85Pro Missense 4/6 -
6-160963771-C-A LPA c.5468G>T p.Gly1823Val Missense 34/39 -
9-136319670-C-A ADAMTS13 c.3178C>A p.Arg1060Arg Synonymous 24/29 -
12-2659186-G-A CACNA1C c.1468G>A p.Gly490Arg Missense 10/47 -
7-150707344-G-C NOS3 c.2654G>C p.Arg885Thr Missense 21/27 -
6-31734313-C-A VWA7 c.2111G>T p.Gly704Val Missense 14/17 -
17-48267454-G-A COL1A1 c.2467C>T p.Pro823Ser Missense 36/51 -
19-6734232-G-C GPR108 c.461C>G p.Pro154Arg Missense 5/18 -
20-61449904-C-A COL9A3 c.182C>A p.Pro61Gln Missense 3/32 -
11-10508808-A-G AMPD3 c.863A>G p.Asn288Ser Missense 6/15 -
20-60884852-G-T LAMA5 c.10868C>A p.Ala3623Glu Missense 79/80 -
21-47423040-A-G COL6A1 c.2441A>G p.Lys814Arg Missense 34/35 -
6-32149140-C-T AGER c.1106G>A p.Arg369Gln Missense 10/11 -
20-60902366-G-A LAMA5 c.5035C>T p.Arg1679Trp Missense 38/80 -
15-39874909-G-A THBS1 c.583G>A p.Ala195Thr Missense 3/22 -
4-110681527-C-T CFI c.782G>A p.Gly261Asp Missense 6/13 -
3-93598150-A-C PROS1 c.1501T>G p.Ser501Ala Missense 13/15 -
4-110667378-C-G CFI c.1429G>C p.Asp477His Missense 11/13 -
6-30619226-C-G C6orf136 c.345C>G p.Asp115Glu Missense 3/5 -
6-31918154-A-G CFB c.1598A>G p.Lys533Arg Missense 12/18 -
1-155026438-C-T ADAM15 c.316C>T p.Arg106Trp Missense 4/21 -
6-31747510-C-T VARS c.3163G>A p.Val1055Ile Missense 27/30 -
6-31747510-C-A VARS c.3163G>T p.Val1055Phe Missense 27/30 -
1-183196682-A-G LAMC2 c.1318A>G p.Ile440Val Missense 10/23 -
8-8999019-C-T PPP1R3B c.143G>A p.Gly48Glu Missense 2/2 -
13-31897910-G-A B3GLCT c.1207G>A p.Val403Ile Missense 14/15 -
6-7182266-A-G RREB1 c.122A>G p.Lys41Arg Missense 4/12 -
15-42439369-G-A PLA2G4F c.1372C>T p.Leu458Phe Missense 13/20 -
1-233122172-G-C PCNX2 c.5906C>G p.Thr1969Arg Missense 33/34 -
5-41382364-C-T PLCXD3 c.376G>A p.Glu126Lys Missense 2/3 -
10-98802722-G-T SLIT1 c.2100C>A p.Asn700Lys Missense 20/37 -
22-31532702-A-G PLA2G3 c.1283T>C p.Leu428Pro Missense 6/7 -
22-31532702-A-C PLA2G3 c.1283T>G p.Leu428Arg Missense 6/7 -
9-120476694-G-T TLR4 c.2288G>T p.Arg763Leu Missense 3/3 -
9-21077313-G-T IFNB1 c.556C>A p.Arg186Arg Synonymous 1/1 -
20-60900388-C-G LAMA5 c.5513G>C p.Arg1838Pro Missense 41/80 -
5-35072685-C-T PRLR c.535G>A p.Glu179Lys Missense 6/10 -
2-228158021-C-T COL4A3 c.3325C>T p.Pro1109Ser Missense 38/52 -
9-21077313-G-C IFNB1 c.556C>G p.Arg186Gly Missense 1/1 -
4-184932032-G-A STOX2 c.2041G>A p.Val681Ile Missense 3/4 -
19-10398842-G-A ICAM4 c.*62G>A - 3-UTRSNV 3/3 -
3-52551020-G-C STAB1 c.4384G>C p.Gly1462Arg Missense 42/69 -
3-52551020-G-A STAB1 c.4384G>A p.Gly1462Ser Missense 42/69 -
4-110662140-T-A CFI c.1661A>T p.Glu554Val Missense 13/13 -
22-39621819-G-C PDGFB c.635C>G p.Thr212Arg Missense 6/7 -
7-100085880-C-T NYAP1 c.536C>T p.Ser179Phe Missense 4/7 -
17-76399916-A-C PGS1 c.1148A>C p.Tyr383Ser Missense 7/10 -
15-89758328-A-G RLBP1 c.488T>C p.Ile163Thr Missense 6/9 -
15-62270845-T-C VPS13C c.2141A>G p.Gln714Arg Missense 21/83 -
15-62207854-T-C VPS13C c.8294A>G p.Lys2765Arg Missense 59/83 -
2-228118867-G-A COL4A3 c.805G>A p.Glu269Lys Missense 14/52 -
5-40936541-T-C C7 c.382T>C p.Cys128Arg Missense 5/18 -
2-215815751-T-G ABCA12 c.6704A>C p.Glu2235Ala Missense 45/53 -
2-165557069-T-C COBLL1 c.1540A>G p.Met514Val Missense 10/14 -
21-47545899-C-A COL6A2 c.2170C>A p.Arg724Ser Missense 26/28 -
20-61451305-C-T COL9A3 c.280C>T p.Pro94Ser Missense 5/32 -
13-113795286-G-A F10 c.424G>A p.Glu142Lys Missense 5/8 -
15-62212298-C-A VPS13C c.7316G>T p.Arg2439Leu Missense 55/83 -
1-183209311-C-T LAMC2 c.3206C>T p.Thr1069Met Missense 21/23 -
5-169509815-G-T DOCK2 c.5446G>T p.Ala1816Ser Missense 52/52 -
22-45958823-C-T FBLN1 c.1698-11568C>T - IntronicSNV - 14/16
4-110670400-C-G CFI c.1122G>C p.Trp374Cys Missense 10/13 -
15-66821230-A-C ZWILCH c.1010A>C p.Lys337Thr Missense 11/19 -
1-161479663-A-G FCGR2A c.415A>G p.Met139Val Missense 4/7 -
15-62207911-A-G VPS13C c.8237T>C p.Ile2746Thr Missense 59/83 -
15-62207911-A-T VPS13C c.8237T>A p.Ile2746Asn Missense 59/83 -
12-57587715-G-A LRP1 c.7838G>A p.Arg2613Gln Missense 48/89 -
1-196964886-A-G CFHR5 c.647A>G p.Asn216Ser Missense 5/10 -
15-75042492-G-A CYP1A2 c.413G>A p.Arg138His Missense 2/7 -
18-34901815-C-T CELF4 c.399G>A p.Ala133Ala Synonymous 3/13 -
17-73746884-G-A ITGB4 c.3598G>A p.Gly1200Arg Missense 29/40 -
1-100349983-C-T AGL c.2522C>T p.Ser841Phe Missense 19/34 -
3-49548226-A-G DAG1 c.259A>G p.Ile87Val Missense 5/6 -
7-2752330-C-T AMZ1 c.1315C>T p.Arg439Cys Missense 7/7 -
9-135772014-C-T TSC1 c.3103G>A p.Gly1035Ser Missense 23/23 -
18-64218391-T-C CDH19 c.715A>G p.Thr239Ala Missense 5/12 -
16-23080313-C-T USP31 c.3113G>A p.Ser1038Asn Missense 16/16 -
2-21224843-G-T APOB c.13451C>A p.Thr4484Lys Missense 29/29 -
21-47552201-C-T COL6A2 c.2795C>T p.Pro932Leu Missense 28/28 -
1-120479948-T-C NOTCH2 c.3479A>G p.His1160Arg Missense 21/34 -
22-42525089-G-A CYP2D6 c.451C>T p.Gln151* Nonsense 3/9 -
18-50683873-G-A DCC c.1409G>A p.Gly470Asp Missense 8/29 -
12-120653407-G-A PXN c.832-331C>T - IntronicSNV - 6/10
15-75012925-C-T CYP1A1 c.1444G>A p.Val482Met Missense 7/7 -
7-99564870-C-G AZGP1 c.653G>C p.Gly218Ala Missense 4/4 -
2-69732797-G-T AAK1 c.2173C>A p.Pro725Thr Missense 16/22 -
2-69732797-G-C AAK1 c.2173C>G p.Pro725Ala Missense 16/22 -
7-2752330-C-A AMZ1 c.1315C>A p.Arg439Ser Missense 7/7 -
2-9695682-G-A ADAM17 c.53C>T p.Pro18Leu Missense 1/19 -
1-232650941-T-C SIPA1L2 c.145A>G p.Thr49Ala Missense 1/21 -
2-21224843-G-A APOB c.13451C>T p.Thr4484Met Missense 29/29 -
6-31829865-C-G NEU1 c.263G>C p.Gly88Ala Missense 2/6 -
1-183192395-A-G LAMC2 c.889A>G p.Thr297Ala Missense 7/23 -
12-57569339-G-A LRP1 c.3644G>A p.Gly1215Glu Missense 23/89 -
7-95024007-G-A PON3 c.94C>T p.Arg32* Nonsense 2/9 -
19-6678030-T-C C3 c.4855A>G p.Ser1619Gly Missense 41/41 -
1-183204831-C-T LAMC2 c.2422C>T p.Pro808Ser Missense 16/23 -
1-183204831-C-G LAMC2 c.2422C>G p.Pro808Ala Missense 16/23 -
22-42523613-C-T CYP2D6 c.1009G>A p.Asp337Asn Missense 7/9 -
3-52546872-G-A STAB1 c.3056G>A p.Arg1019His Missense 29/69 -
17-4535035-G-A ALOX15 c.1849C>T p.Pro617Ser Missense 14/14 -
18-331717-C-T COLEC12 c.2014G>A p.Glu672Lys Missense 8/10 -
7-99691871-C-G MCM7 c.1245G>C p.Glu415Asp Missense 12/14 -
22-42525134-C-T CYP2D6 c.406G>A p.Val136Ile Missense 3/9 -
8-2005591-C-G MYOM2 c.389C>G p.Ala130Gly Missense 4/37 -
6-139694603-T-G CITED2 c.479A>C p.His160Pro Missense 2/2 -
17-4542794-C-G ALOX15 c.268G>C p.Asp90His Missense 2/14 -
16-31374633-C-T ITGAX c.1648C>T p.Arg550Trp Missense 14/30 -
7-100091306-C-A NYAP1 c.2306C>A p.Pro769His Missense 7/7 -
16-23160057-C-T USP31 c.535G>A p.Gly179Ser Missense 1/16 -
1-203455861-A-T PRELP c.1001A>T p.Asn334Ile Missense 3/3 -
5-134910364-T-C CXCL14 c.182A>G - missense_variant 3/4 -
6-70851789-A-G COL19A1 c.1487A>G p.Glu496Gly Missense 21/51 -
8-2007303-C-T MYOM2 c.590C>T p.Ala197Val Missense 6/37 -
9-123787743-A-G C5 c.989T>C p.Ile330Thr Missense 9/41 -
9-107578618-C-T ABCA1 c.3544G>A p.Ala1182Thr Missense 25/50 -
2-165551669-A-G COBLL1 c.2347T>C p.Ser783Pro Missense 12/14 -
9-137779251-G-A FCN2 c.932G>A p.Arg311Gln Missense 8/8 -
21-46875961-G-A COL18A1 c.517G>A p.Gly173Ser Missense 1/41 -
7-2752065-G-C AMZ1 c.1050G>C p.Ser350Ser Synonymous 7/7 -
7-99808703-C-T STAG3 c.3308C>T p.Pro1103Leu Missense 30/34 -
15-42643546-C-T GANC c.2551C>T p.His851Tyr Missense 23/24 -
12-2694651-C-T CACNA1C c.2449C>T p.Pro817Ser Missense 17/47 -
2-56145110-G-T EFEMP1 c.207C>A p.Leu69Leu Synonymous 5/12 -
19-6734289-T-C GPR108 c.404A>G p.Lys135Arg Missense 5/18 -
9-136305552-G-A ADAMTS13 c.1874G>A p.Arg625His Missense 16/29 -
1-110260040-A-G GSTM5 c.649A>G p.Ser217Gly Missense 8/8 -
16-81298282-C-A BCO1 c.509C>A p.Thr170Lys Missense 5/11 -
3-171417570-G-A PLD1 c.1192C>T p.Arg398Cys Missense 12/27 -
22-42526775-C-T CYP2D6 c.19G>A p.Val7Met Missense 1/9 -
2-21238323-G-A APOB c.3427C>T p.Pro1143Ser Missense 22/29 -
1-171301882-T-A FMO4 c.662T>A p.Leu221His Missense 7/10 -
12-8212221-A-C C3AR1 c.561T>G p.Phe187Leu Missense 2/2 -
3-52547252-A-G STAB1 c.3265A>G p.Ser1089Gly Missense 30/69 -
1-183091040-G-A LAMC1 c.2173G>A p.Ala725Thr Missense 12/28 -
6-161010615-T-C LPA c.3917A>G p.His1306Arg Missense 24/39 -
15-42643546-C-A GANC c.2551C>A p.His851Asn Missense 23/24 -
6-80626470-A-G ELOVL4 c.800T>C p.Ile267Thr Missense 6/6 -
2-219679475-G-T CYP27A1 c.1471G>T p.Ala491Ser Missense 8/9 -
2-219679475-G-A CYP27A1 c.1471G>A p.Ala491Thr Missense 8/9 -
5-39308335-C-T C9 c.1237G>A p.Ala413Thr Missense 8/11 -
1-94497563-C-T ABCA4 c.3899G>A p.Arg1300Gln Missense 27/50 -
7-100074938-G-T TSC22D4 c.724C>A p.Leu242Met Missense 2/5 -
11-68177472-A-T LRP5 c.2182A>T p.Met728Leu Missense 10/23 -
2-215876783-T-C ABCA12 c.2033A>G p.Asn678Ser Missense 16/53 -
1-40766942-G-A COL9A2 c.1982C>T p.Pro661Leu Missense 32/32 -
1-40766942-G-C COL9A2 c.1982C>G p.Pro661Arg Missense 32/32 -
20-61467564-C-T COL9A3 c.1427C>T p.Pro476Leu Missense 28/32 -
17-66878099-C-T ABCA8 c.3731G>A p.Cys1244Tyr Missense 29/38 -
3-133496032-G-A TF c.2012G>A p.Gly671Glu Missense 16/17 -
6-161152819-C-A PLG c.1481C>A p.Ala494Glu Missense 12/19 -
3-48603736-G-A COL7A1 c.8371C>T p.Arg2791Trp Missense 113/118 -
22-39621784-G-A PDGFB c.670C>T p.Arg224Trp Missense 6/7 -
22-31533855-G-T PLA2G3 c.907C>A p.Arg303Arg Synonymous 4/7 -
22-31533855-G-A PLA2G3 c.907C>T p.Arg303* Nonsense 4/7 -
6-161152819-C-T PLG c.1481C>T p.Ala494Val Missense 12/19 -
18-50848468-A-G DCC c.2105A>G p.Asn702Ser Missense 14/29 -
4-110681521-C-A CFI c.788G>T p.Gly263Val Missense 6/13 -
4-57777078-G-A REST c.274G>A p.Gly92Arg Missense 2/4 -
6-31736835-C-G VWA7 c.1463G>C p.Arg488Pro Missense 10/17 -
6-31736835-C-T VWA7 c.1463G>A p.Arg488Gln Missense 10/17 -
6-31736835-C-A VWA7 c.1463G>T p.Arg488Leu Missense 10/17 -
2-237489232-G-A ACKR3 c.124G>A p.Val42Ile Missense 2/2 -
9-139840122-G-C C8G c.175G>C p.Ala59Pro Missense 2/7 -
4-84232010-A-G HPSE c.707T>C p.Phe236Ser Missense 6/13 -
4-84232010-A-C HPSE c.707T>G p.Phe236Cys Missense 6/13 -
9-136320444-G-A ADAMTS13 c.3287G>A p.Arg1096His Missense 25/29 -
8-108296964-C-T ANGPT1 c.1151G>A p.Arg384Gln Missense 7/9 -
9-139840122-G-A C8G c.175G>A p.Ala59Thr Missense 2/7 -
1-186934559-G-A PLA2G4A c.1598G>A p.Arg533Gln Missense 15/18 -
2-215882771-G-C ABCA12 c.1743C>G p.Asp581Glu Missense 14/53 -
1-182571142-G-C RGS16 c.346C>G p.Gln116Glu Missense 4/5 -
9-123751971-G-A C5 c.3029C>T p.Ala1010Val Missense 24/41 -
3-48628920-C-T COL7A1 c.1613G>A p.Arg538His Missense 12/118 -
4-187004500-C-T TLR3 c.1660C>T p.Pro554Ser Missense 4/5 -
20-60892813-G-A LAMA5 c.7261C>T p.Arg2421Trp Missense 54/80 -
22-38478666-C-G SLC16A8 c.214+1G>C - IntronicSNV - 2/4
7-99474143-G-A OR2AE1 c.514C>T p.Arg172Trp Missense 1/1 -
7-99474143-G-T OR2AE1 c.514C>A p.Arg172Arg Synonymous 1/1 -
4-69962375-T-C UGT2B7 c.137T>C p.Leu46Pro Missense 1/6 -
9-107582258-T-A ABCA1 c.3053A>T p.Asp1018Val Missense 21/50 -
20-44640275-G-A MMP9 c.886G>A p.Gly296Ser Missense 6/13 -
6-116325108-G-A FRK c.398C>T p.Ser133Leu Missense 2/8 -
19-13051130-G-C CALR c.566G>C p.Ser189Thr Missense 5/9 -
16-81298282-C-T BCO1 c.509C>T p.Thr170Met Missense 5/11 -
12-2797746-G-A CACNA1C c.5918G>A p.Arg1973Gln Missense 46/47 -
2-228012183-A-G COL4A4 c.17T>C p.Ile6Thr Missense 2/48 -
1-100349983-C-A AGL c.2522C>A p.Ser841Tyr Missense 19/34 -
1-183187613-C-T LAMC2 c.493C>T p.Arg165Cys Missense 4/23 -
14-103592967-G-C TNFAIP2 c.173G>C p.Ser58Thr Missense 1/11 -
21-47545899-C-T COL6A2 c.2170C>T p.Arg724Cys Missense 26/28 -
11-68177524-C-A LRP5 c.2234C>A p.Ala745Glu Missense 10/23 -
6-116559406-T-G NT5DC1 c.978T>G p.Ser326Arg Missense 10/12 -
1-176679311-T-C PAPPA2 c.3650T>C p.Leu1217Pro Missense 11/23 -
22-38478666-C-T SLC16A8 c.214+1G>A - IntronicSNV - 2/4
15-42438355-G-A PLA2G4F c.1504C>T p.Arg502Cys Missense 14/20 -
1-207782856-A-G CR1 c.4768A>G p.Lys1590Glu Missense 29/39 -
4-110685721-C-T CFI c.454G>A p.Val152Met Missense 3/13 -
9-2635545-G-A VLDLR c.175G>A p.Val59Ile Missense 2/19 -
6-32064161-C-T TNXB c.1469G>A p.Arg490Gln Missense 3/44 -
8-23049208-C-A TNFRSF10A c.1406G>T - Missense 10/10 -
2-206592624-C-A NRP2 c.1000C>A p.Arg334Ser Missense 7/17 -
7-99461219-G-A CYP3A43 c.983G>A p.Gly328Glu Missense 9/10 -
1-94487404-C-T ABCA4 c.4771G>A p.Gly1591Arg Missense 33/50 -
22-31536074-A-T PLA2G3 c.267T>A p.His89Gln Missense 1/7 -
22-31536074-A-G PLA2G3 c.267T>C p.His89His Synonymous 1/7 -
7-150698352-G-T NOS3 c.1267G>T p.Ala423Ser Missense 11/27 -
2-206592624-C-T NRP2 c.1000C>T p.Arg334Cys Missense 7/17 -
19-8436373-C-T ANGPTL4 c.1006C>T p.Arg336Cys Missense 6/7 -
1-207643432-C-G CR2 c.1210C>G p.Pro404Ala Missense 6/19 -
2-21225354-T-C APOB c.12940A>G p.Ile4314Val Missense 29/29 -
7-99702875-G-C AP4M1 c.740G>C p.Gly247Ala Missense 10/15 -
18-34901833-C-G CELF4 c.381G>C p.Pro127Pro Synonymous 3/13 -
22-33257322-T-C TIMP3 c.*1958T>C - 3-UTRSNV 5/5 -
18-34901833-C-T CELF4 c.381G>A p.Pro127Pro Synonymous 3/13 -
1-11308007-C-T MTOR c.985G>A p.Ala329Thr Missense 7/58 -
19-31768945-G-A TSHZ3 c.1754C>T p.Pro585Leu Missense 2/2 -
16-81298301-T-C BCO1 c.528T>C p.Asp176Asp Synonymous 5/11 -
16-81298301-T-G BCO1 c.528T>G p.Asp176Glu Missense 5/11 -
10-105792717-G-T COL17A1 c.4304C>A p.Ala1435Asp Missense 54/56 -
4-110667431-T-G CFI c.1376A>C p.Tyr459Ser Missense 11/13 -
16-2103392-A-T TSC2 c.275A>T p.Glu92Val Missense 4/42 -
7-22771039-T-C IL6 c.486T>C p.Asp162Asp Synonymous 5/5 -
7-22771039-T-A IL6 c.486T>A p.Asp162Glu Missense 5/5 -
1-94528818-C-T ABCA4 c.1610G>A p.Arg537His Missense 12/50 -
6-32185028-C-T NOTCH4 c.1640G>A p.Arg547Gln Missense 10/30 -
4-110687908-C-T CFI c.130G>A p.Asp44Asn Missense 2/13 -
1-230386238-A-C GALNT2 c.941A>C p.Asp314Ala Missense 10/16 -
9-107589246-T-G ABCA1 c.2320A>C p.Thr774Pro Missense 16/50 -
19-1050996-G-A ABCA7 c.2629G>A p.Ala877Thr Missense 19/47 -
8-18729328-C-A PSD3 c.1046G>T p.Gly349Val Missense 3/16 -
7-73008233-G-A MLXIPL c.2521C>T p.Arg841Trp Missense 17/17 -
19-7125518-C-T INSR c.3034G>A p.Val1012Met Missense 17/22 -
4-110682737-A-T CFI c.594T>A p.Phe198Leu Missense 4/13 -
4-110682737-A-C CFI c.594T>G p.Phe198Leu Missense 4/13 -
6-30529622-G-A PRR3 c.181G>A p.Gly61Ser Missense 3/4 -
1-22964189-G-A C1QA c.80G>A p.Arg27Gln Missense 2/3 -
1-155106446-G-C EFNA1 c.521G>C p.Arg174Pro Missense 5/5 -
21-47421960-T-C COL6A1 c.2042T>C p.Ile681Thr Missense 31/35 -
2-215821412-C-G ABCA12 c.6208G>C p.Val2070Leu Missense 42/53 -
21-46308800-C-T ITGB2 c.1888G>A p.Glu630Lys Missense 14/16 -
1-120510113-G-T NOTCH2 c.1396C>A p.Gln466Lys Missense 8/34 -
1-196295914-C-G KCNT2 c.2209G>C p.Val737Leu Missense 19/28 -
2-127808076-G-C BIN1 c.1595C>G p.Thr532Arg Missense 18/19 -
2-127808076-G-A BIN1 c.1595C>T p.Thr532Met Missense 18/19 -
1-120459122-C-T NOTCH2 c.6223G>A p.Val2075Met Missense 34/34 -
1-183192390-G-A LAMC2 c.884G>A p.Arg295Gln Missense 7/23 -
12-48272845-G-A VDR c.52C>T p.Arg18Trp Missense 3/10 -
4-15780060-C-T CD38 c.23C>T p.Pro8Leu Missense 1/8 -
9-137582841-C-T COL5A1 c.193C>T p.Arg65Trp Missense 2/66 -
6-30679197-T-C MDC1 c.2213A>G p.Gln738Arg Missense 7/15 -
17-61568577-C-T ACE c.2747C>T p.Thr916Met Missense 19/25 -
16-23080375-C-G USP31 c.3051G>C p.Lys1017Asn Missense 16/16 -
16-23080375-C-T USP31 c.3051G>A p.Lys1017Lys Synonymous 16/16 -
17-58525018-C-T APPBP2 c.1682G>A p.Ser561Asn Missense 13/13 -
6-7230559-G-C RREB1 c.2227G>C p.Glu743Gln Missense 10/12 -
6-7230559-G-A RREB1 c.2227G>A p.Glu743Lys Missense 10/12 -
2-189855743-G-A COL3A1 c.812G>A p.Arg271Gln Missense 11/51 -
17-4535299-G-A ALOX15 c.1694C>T p.Pro565Leu Missense 13/14 -
8-2088749-A-G MYOM2 c.3904A>G p.Thr1302Ala Missense 33/37 -
11-68115489-A-G LRP5 c.266A>G p.Gln89Arg Missense 2/23 -
1-120459122-C-G NOTCH2 c.6223G>C p.Val2075Leu Missense 34/34 -
5-169111345-C-T DOCK2 c.752C>T p.Thr251Met Missense 8/52 -
1-183192390-G-C LAMC2 c.884G>C p.Arg295Pro Missense 7/23 -
19-10395650-C-T ICAM1 c.1372C>T p.Arg458Trp Missense 6/7 -
12-48272845-G-T VDR c.52C>A p.Arg18Arg Synonymous 3/10 -
16-53860139-G-A FTO c.487G>A p.Ala163Thr Missense 3/9 -
17-80320049-G-A TEX19 c.23G>A p.Arg8Gln Missense 2/2 -
12-57556220-G-C LRP1 c.2323G>C p.Ala775Pro Missense 14/89 -
12-57556220-G-A LRP1 c.2323G>A p.Ala775Thr Missense 14/89 -
7-143095466-C-T EPHA1 c.1412G>A p.Arg471Gln Missense 7/18 -
1-27700455-C-T FCN3 c.232+1G>A - IntronicSNV - 3/7
13-47275283-G-A LRCH1 c.1341G>A p.Met447Ile Missense 11/19 -
5-124036907-G-A ZNF608 c.962C>T p.Thr321Met Missense 2/9 -
19-6678030-T-G C3 c.4855A>C p.Ser1619Arg Missense 41/41 -
2-215910612-T-C ABCA12 c.821A>G p.Gln274Arg Missense 7/53 -
15-42630673-A-G GANC c.1828A>G p.Ile610Val Missense 16/24 -
17-74383648-C-G SPHK1 c.1178C>G p.Pro393Arg Missense 6/6 -
22-29621173-G-A EMID1 c.371G>A p.Arg124Gln Missense 4/15 -
1-203455861-A-G PRELP c.1001A>G p.Asn334Ser Missense 3/3 -
4-110682739-A-G CFI c.592T>C p.Phe198Leu Missense 4/13 -
12-57605313-G-A LRP1 c.13135G>A p.Gly4379Ser Missense 85/89 -
22-33255244-C-T TIMP3 c.516C>T p.Phe172Phe Synonymous 5/5 -
3-9970063-G-A IL17RC c.907G>A p.Ala303Thr Missense 10/18 -
19-6718146-T-G C3 c.463A>C p.Lys155Gln Missense 4/41 -
1-57351704-G-T C8A c.960G>T p.Glu320Asp Missense 7/11 -
7-99720002-G-T CNPY4 c.239G>T p.Ser80Ile Missense 2/6 -
8-6372298-G-A ANGPT2 c.932C>T p.Ala311Val Missense 6/9 -
1-196706677-G-A CFH c.2669G>A p.Ser890Asn Missense 17/22 -
1-196706677-G-C CFH c.2669G>C p.Ser890Thr Missense 17/22 -
15-62238002-G-A VPS13C c.4931C>T p.Ala1644Val Missense 43/83 -
15-39874396-T-G THBS1 c.70T>G p.Ser24Ala Missense 3/22 -
6-161162369-T-A PLG c.2045T>A p.Ile682Asn Missense 17/19 -
16-53288510-T-G CHD9 c.4022T>G p.Val1341Gly Missense 18/39 -
12-20769270-G-A PDE3A c.1376G>A p.Arg459Gln Missense 4/16 -
9-15211342-T-C TTC39B c.536A>G p.Gln179Arg Missense 5/20 -
17-66878774-G-A ABCA8 c.3674C>T p.Thr1225Ile Missense 28/38 -
4-55984959-C-T KDR c.170G>A p.Arg57Lys Missense 3/30 -
4-55984959-C-G KDR c.170G>C p.Arg57Thr Missense 3/30 -
12-7173893-G-A C1S c.943G>A p.Asp315Asn Missense 8/12 -
11-27680107-G-T BDNF c.5C>A p.Thr2Asn Missense 1/1 -
5-41150035-A-T C6 c.2381+2T>A - IntronicSNV - 16/17
5-41150035-A-G C6 c.2381+2T>C - IntronicSNV - 16/17
2-69746142-C-G AAK1 c.1441G>C p.Ala481Pro Missense 12/22 -
7-2752065-G-A AMZ1 c.1050G>A p.Ser350Ser Synonymous 7/7 -
6-169053866-G-A SMOC2 c.1243G>A p.Val415Met Missense 11/13 -
1-186014876-G-A HMCN1 c.6361G>A p.Val2121Met Missense 41/107 -
19-31770506-C-T TSHZ3 c.193G>A p.Ala65Thr Missense 2/2 -
1-226026377-C-T EPHX1 c.387C>T p.His129His Synonymous 4/9 -
19-31770506-C-A TSHZ3 c.193G>T p.Ala65Ser Missense 2/2 -
1-196928188-A-G CFHR2 c.791A>G p.Tyr264Cys Missense 5/5 -
7-2752383-C-A AMZ1 c.1368C>A p.Ser456Arg Missense 7/7 -
7-2752383-C-T AMZ1 c.1368C>T p.Ser456Ser Synonymous 7/7 -
16-81298254-C-T BCO1 c.481C>T p.Arg161Cys Missense 5/11 -
10-105792717-G-A COL17A1 c.4304C>T p.Ala1435Val Missense 54/56 -
3-107517460-C-T BBX c.2354C>T p.Thr785Met Missense 15/17 -
1-186052024-G-A HMCN1 c.8815G>A p.Gly2939Ser Missense 57/107 -
6-35285719-A-C DEF6 c.859A>C p.Asn287His Missense 6/11 -
11-10508903-G-T AMPD3 c.958G>T p.Val320Leu Missense 6/15 -
7-100016781-T-C ZCWPW1 c.314A>G p.Glu105Gly Missense 5/18 -
10-55944995-C-T PCDH15 c.1339G>A p.Asp447Asn Missense 12/33 -
3-186944222-T-C MASP1 c.1528A>G p.Ser510Gly Missense 12/16 -
2-21260934-G-A APOB c.433C>T p.Pro145Ser Missense 5/29 -
2-21260934-G-C APOB c.433C>G p.Pro145Ala Missense 5/29 -
20-23065548-C-A CD93 c.1282G>T p.Val428Leu Missense 1/2 -
6-31727989-A-G MSH5 c.1808A>G p.Lys603Arg Missense 19/25 -
11-10508903-G-A AMPD3 c.958G>A p.Val320Met Missense 6/15 -
6-31939898-C-T STK19 c.125C>T p.Ala42Val Missense 1/8 -
4-128595296-A-T INTU c.1109A>T p.Asn370Ile Missense 6/16 -
1-207641950-C-T CR2 c.524C>T p.Pro175Leu Missense 3/19 -
7-99474007-T-C OR2AE1 c.650A>G p.Tyr217Cys Missense 1/1 -
6-32097475-T-C FKBPL c.83A>G p.Asn28Ser Missense 2/2 -
17-37243923-G-A PLXDC1 c.844C>T p.Arg282Cys Missense 8/14 -
4-55131118-C-T PDGFRA c.661C>T p.Leu221Phe Missense 5/23 -
1-186007990-C-T HMCN1 c.5881C>T p.Leu1961Phe Missense 38/107 -
1-185964136-C-T HMCN1 c.3695C>T p.Thr1232Met Missense 24/107 -
21-47552006-G-T COL6A2 c.2600G>T p.Arg867Leu Missense 28/28 -
21-47552006-G-A COL6A2 c.2600G>A p.Arg867Gln Missense 28/28 -
6-32185028-C-A NOTCH4 c.1640G>T p.Arg547Leu Missense 10/30 -
1-173873176-C-A SERPINC1 c.1246G>T p.Ala416Ser Missense 7/7 -
8-2037874-C-T MYOM2 c.1688C>T p.Thr563Met Missense 15/37 -
9-101908365-T-G TGFBR1 c.900-402T>G - IntronicSNV - 5/7
15-62315982-T-C VPS13C c.386-263A>G - IntronicSNV - 5/82
2-54080702-A-C GPR75-ASB3 c.101+6263T>G - IntronicSNV - 1/9
4-110670749-C-T CFI c.950G>A p.Arg317Gln Missense 9/13 -
3-99979884-C-G TBC1D23 c.22C>G p.Pro8Ala Missense 1/18 -
3-99979884-C-T TBC1D23 c.22C>T p.Pro8Ser Missense 1/18 -
1-63063465-C-T ANGPTL3 c.228C>T p.Asn76Asn Synonymous 1/7 -
5-169111233-C-T DOCK2 c.640C>T p.Arg214Trp Missense 8/52 -
13-47409048-G-A HTR2A c.1340C>T p.Ala447Val Missense 4/4 -
1-196706677-G-T CFH c.2669G>T p.Ser890Ile Missense 17/22 -
17-73738809-C-T ITGB4 c.2929C>T p.Arg977Cys Missense 25/40 -
3-52556184-C-G STAB1 c.6403C>G p.Pro2135Ala Missense 59/69 -
13-28964035-T-A FLT1 c.1867A>T p.Ile623Phe Missense 13/30 -
13-28964035-T-C FLT1 c.1867A>G p.Ile623Val Missense 13/30 -
9-77684824-G-A NMRK1 c.304C>T p.Leu102Phe Missense 5/9 -
17-1674431-C-T SERPINF1 c.392C>T p.Ala131Val Missense 4/8 -
8-18393438-G-C PSD3 c.2959C>G p.Leu987Val Missense 16/16 -
8-18393438-G-A PSD3 c.2959C>T p.Leu987Phe Missense 16/16 -
1-110257854-C-T GSTM5 c.559C>T p.Arg187Cys Missense 7/8 -
4-178359960-G-C AGA c.446C>G p.Thr149Ser Missense 4/9 -
10-75671356-G-C PLAU c.43G>C p.Val15Leu Missense 2/11 -
17-21207838-G-C MAP2K3 c.669G>C p.Met223Ile Missense 8/12 -
8-2092718-C-T MYOM2 c.4211C>T p.Thr1404Ile Missense 37/37 -
18-18546896-T-G ROCK1 c.3334A>C p.Thr1112Pro Missense 27/33 -
11-68191036-G-A LRP5 c.3107G>A p.Arg1036Gln Missense 14/23 -
11-68191036-G-T LRP5 c.3107G>T p.Arg1036Leu Missense 14/23 -
19-10385540-A-G ICAM1 c.167A>G p.Lys56Arg Missense 2/7 -
19-6667151-C-T TNFSF14 c.271G>A p.Glu91Lys Missense 4/5 -
5-5140798-C-T ADAMTS16 c.94C>T p.Pro32Ser Missense 2/23 -
6-31732097-G-A SAPCD1 c.406G>A p.Glu136Lys Missense 4/5 -
20-60893697-C-T LAMA5 c.7052G>A p.Arg2351Gln Missense 53/80 -
1-233231463-T-A PCNX2 c.3946+38A>T - IntronicSNV - 22/33
6-32149219-G-A AGER c.1027C>T p.Leu343Leu Synonymous 10/11 -
3-50655190-G-T MAPKAPK3 c.194G>T p.Arg65Leu Missense 2/11 -
19-8434123-G-C ANGPTL4 c.568G>C p.Glu190Gln Missense 4/7 -
3-93595918-T-C PROS1 c.1762A>G p.Thr588Ala Missense 14/15 -
2-215910574-G-T ABCA12 c.859C>A p.Arg287Arg Synonymous 7/53 -
1-151491836-C-A CGN c.841C>A p.Arg281Arg Synonymous 2/21 -
20-60901932-C-T LAMA5 c.5203G>A p.Val1735Met Missense 39/80 -
9-123785738-G-T C5 c.1060C>A p.Leu354Met Missense 10/41 -
7-150708035-A-T NOS3 c.2945A>T p.Gln982Leu Missense 23/27 -
21-47544833-C-A COL6A2 c.1769C>A p.Thr590Lys Missense 23/28 -
21-47544833-C-T COL6A2 c.1769C>T p.Thr590Met Missense 23/28 -
9-135779052-G-A TSC1 c.2194C>T p.His732Tyr Missense 17/23 -
4-84227453-C-T HPSE c.1109G>A p.Gly370Asp Missense 10/13 -
20-10622214-C-A JAG1 c.2810G>T p.Arg937Leu Missense 23/26 -
10-135351264-G-A CYP2E1 c.1165G>A p.Val389Ile Missense 8/9 -
10-135351264-G-T CYP2E1 c.1165G>T p.Val389Leu Missense 8/9 -
9-101817602-G-A COL15A1 c.3140G>A p.Gly1047Asp Missense 34/42 -
10-81372166-C-T SFTPA1 c.271C>T p.Pro91Ser Missense 4/6 -
10-81372166-C-G SFTPA1 c.271C>G p.Pro91Ala Missense 4/6 -
5-35065513-T-A PRLR c.1547A>T p.Asn516Ile Missense 10/10 -
5-35065513-T-C PRLR c.1547A>G p.Asn516Ser Missense 10/10 -
5-174869045-G-C DRD1 c.1058C>G p.Ala353Gly Missense 2/2 -
7-100403131-C-A EPHB4 c.2670G>T p.Glu890Asp Missense 15/17 -
15-42193356-G-T EHD4 c.1113C>A p.Phe371Leu Missense 6/6 -
2-215914446-C-G ABCA12 c.597G>C p.Trp199Cys Missense 6/53 -
7-99490052-C-T TRIM4 c.1237G>A p.Asp413Asn Missense 7/7 -
7-99490052-C-A TRIM4 c.1237G>T p.Asp413Tyr Missense 7/7 -
1-183206566-G-A LAMC2 c.2681G>A p.Arg894His Missense 18/23 -
1-196695675-G-T CFH c.1949G>T p.Gly650Val Missense 13/22 -
20-10622214-C-T JAG1 c.2810G>A p.Arg937Gln Missense 23/26 -
16-81324160-G-A BCO1 c.1622G>A p.Cys541Tyr Missense 11/11 -
4-57777171-C-G REST c.367C>G p.Pro123Ala Missense 2/4 -
9-77683924-T-G NMRK1 c.484A>C p.Thr162Pro Missense 7/9 -
17-76400105-T-G PGS1 c.1337T>G p.Leu446Arg Missense 7/10 -
4-57843300-T-C NOA1 c.452A>G p.Gln151Arg Missense 1/7 -
6-161006084-G-T LPA c.4283C>A p.Pro1428Gln Missense 26/39 -
1-155106446-G-A EFNA1 c.521G>A p.Arg174Gln Missense 5/5 -
19-54844989-C-T LILRA4 c.1354G>A p.Val452Met Missense 8/8 -
3-49548225-G-C DAG1 c.258G>C p.Leu86Phe Missense 5/6 -
1-196712596-A-T CFH c.3148A>T p.Asn1050Tyr Missense 20/22 -
1-176659510-C-G PAPPA2 c.2375C>G p.Thr792Ser Missense 5/23 -
1-176659510-C-A PAPPA2 c.2375C>A p.Thr792Asn Missense 5/23 -
1-176659510-C-T PAPPA2 c.2375C>T p.Thr792Ile Missense 5/23 -
2-46842119-A-G PIGF c.185T>C p.Val62Ala Missense 2/7 -
7-73013995-G-A MLXIPL c.932C>T p.Pro311Leu Missense 8/17 -
1-232539219-C-T SIPA1L2 c.4915G>A p.Gly1639Ser Missense 19/21 -
1-232539219-C-G SIPA1L2 c.4915G>C p.Gly1639Arg Missense 19/21 -
12-58159173-C-G CYP27B1 c.496G>C p.Val166Leu Missense 3/9 -
1-57341803-G-A C8A c.385G>A p.Asp129Asn Missense 4/11 -
9-136302010-C-T ADAMTS13 c.1370C>T p.Pro457Leu Missense 12/29 -
2-215917233-G-A ABCA12 c.485C>T p.Ala162Val Missense 5/53 -
18-74696703-C-T MBP c.549+28G>A - IntronicSNV - 6/6
4-110682801-T-A CFI c.530A>T p.Asn177Ile Missense 4/13 -
17-61562373-A-G ACE c.1922-224A>G - IntronicSNV - 12/24
13-29001349-T-G FLT1 c.1383A>C p.Gln461His Missense 10/30 -
13-29001349-T-C FLT1 c.1383A>G p.Gln461Gln Synonymous 10/30 -
7-17379157-G-A AHR c.1708G>A p.Val570Ile Missense 10/11 -
19-54848172-G-C LILRA4 c.1195C>G p.Arg399Gly Missense 6/8 -
13-95735484-T-C ABCC4 c.2596A>G p.Ile866Val Missense 21/31 -
1-207648499-G-A CR2 c.2477G>A p.Arg826His Missense 13/19 -
15-42442838-C-T PLA2G4F c.739G>A p.Val247Met Missense 8/20 -
19-54848172-G-A LILRA4 c.1195C>T p.Arg399Cys Missense 6/8 -
6-161152206-T-A PLG c.1380T>A p.Ser460Arg Missense 11/19 -
1-161645058-T-C FCGR2B c.772T>C p.Tyr258His Missense 6/8 -
1-161645058-T-G FCGR2B c.772T>G p.Tyr258Asp Missense 6/8 -
5-139936825-G-C SRA1 c.94C>G p.Gln32Glu Missense 2/5 -
20-61453149-T-C COL9A3 c.410T>C p.Leu137Pro Missense 8/32 -
7-99798530-C-T STAG3 c.1999C>T p.Arg667Cys Missense 19/34 -
7-99798530-C-A STAG3 c.1999C>A p.Arg667Ser Missense 19/34 -
3-39307927-T-C CX3CR1 c.74A>G p.Asp25Gly Missense 2/2 -
1-226033035-T-A EPHX1 c.1355T>A p.Leu452Gln Missense 9/9 -
1-207818658-T-G CR1L c.80T>G p.Leu27Arg Missense 1/12 -
9-137309155-G-A RXRA c.762G>A p.Met254Ile Missense 5/10 -
7-99817570-C-G PVRIG c.37C>G p.Pro13Ala Missense 2/6 -
1-100327853-A-G AGL c.334A>G p.Ile112Val Missense 4/34 -
12-73056956-G-A TRHDE c.3056G>A p.Gly1019Glu Missense 19/19 -
7-99445188-G-A CYP3A43 c.341-8026G>A - IntronicSNV - 4/9
20-60902965-G-A LAMA5 c.4754C>T p.Ala1585Val Missense 36/80 -
3-46307313-A-G CCR3 c.718A>G p.Ile240Val Missense 3/3 -
21-47551964-G-A COL6A2 c.2558G>A p.Arg853Gln Missense 28/28 -
5-5239309-G-A ADAMTS16 c.2200G>A p.Val734Ile Missense 15/23 -
11-116707044-A-T APOA1 c.284T>A p.Phe95Tyr Missense 4/4 -
19-1056169-G-A ABCA7 c.4343G>A p.Gly1448Asp Missense 32/47 -
9-133928352-G-A LAMC3 c.1939G>A p.Gly647Ser Missense 11/28 -
7-99445188-G-T CYP3A43 c.341-8026G>T - IntronicSNV - 4/9
6-161007619-G-T LPA c.3991C>A p.Arg1331Ser Missense 25/39 -
2-189861933-C-A COL3A1 c.1804C>A p.Pro602Thr Missense 25/51 -
6-30514529-G-A GNL1 c.1526C>T p.Ala509Val Missense 11/12 -
6-161007619-G-A LPA c.3991C>T p.Arg1331Cys Missense 25/39 -
10-88419700-G-T OPN4 c.849G>T p.Trp283Cys Missense 6/10 -
8-2000428-G-T MYOM2 c.260G>T p.Ser87Ile Missense 3/37 -
2-227920747-C-T COL4A4 c.2630G>A p.Arg877Gln Missense 30/48 -
17-80320049-G-T TEX19 c.23G>T p.Arg8Leu Missense 2/2 -
6-31837009-G-C SLC44A4 c.1030C>G p.Gln344Glu Missense 12/20 -
14-92403294-C-T FBLN5 c.376G>A p.Val126Met Missense 4/11 -
18-49867224-T-C DCC c.67T>C p.Phe23Leu Missense 1/29 -
6-30529700-C-T PRR3 c.259C>T p.Arg87Trp Missense 3/4 -
6-42666136-G-A PRPH2 c.938C>T p.Pro313Leu Missense 3/3 -
11-85701307-T-C PICALM c.1394A>G p.His465Arg Missense 13/20 -
20-23028659-G-T THBD c.1483C>A p.Pro495Thr Missense 1/1 -
7-2752322-C-T AMZ1 c.1307C>T p.Ala436Val Missense 7/7 -
6-30570113-T-G PPP1R10 c.2313A>C p.Glu771Asp Missense 19/20 -
2-113539246-C-T IL1A c.254G>A p.Arg85Gln Missense 4/7 -
2-215852398-T-C ABCA12 c.3949A>G p.Met1317Val Missense 27/53 -
1-218520315-G-A TGFB2 c.272G>A p.Arg91His Missense 1/7 -
16-23079872-C-G USP31 c.3554G>C p.Arg1185Pro Missense 16/16 -
1-232534919-C-T SIPA1L2 c.5123G>A p.Arg1708Gln Missense 21/21 -
16-23079872-C-T USP31 c.3554G>A p.Arg1185Gln Missense 16/16 -
16-23079872-C-A USP31 c.3554G>T p.Arg1185Leu Missense 16/16 -
8-2033495-G-T MYOM2 c.1617G>T p.Lys539Asn Missense 14/37 -
4-76924756-T-C CXCL9 c.373A>G p.Thr125Ala Missense 4/4 -
6-31836994-C-G SLC44A4 c.1045G>C p.Ala349Pro Missense 12/20 -
2-21229905-T-C APOB c.9835A>G p.Ser3279Gly Missense 26/29 -
1-183105709-G-A LAMC1 c.4303G>A p.Ala1435Thr Missense 25/28 -
1-151508290-A-G CGN c.3113A>G p.Glu1038Gly Missense 18/21 -
10-81318681-G-C SFTPA2 c.253C>G p.Arg85Gly Missense 4/6 -
10-81318681-G-A SFTPA2 c.253C>T p.Arg85Cys Missense 4/6 -
4-76943947-G-T CXCL10 c.85C>A p.Arg29Ser Missense 2/4 -
3-107491892-G-T BBX c.1324G>T p.Ala442Ser Missense 11/17 -
4-69795670-G-A UGT2A3 c.1445C>T p.Thr482Ile Missense 6/6 -
20-44639214-C-T MMP9 c.464C>T p.Thr155Ile Missense 3/13 -
9-107578620-G-A ABCA1 c.3542C>T p.Ser1181Phe Missense 25/50 -
20-61458135-G-A COL9A3 c.755G>A p.Arg252Gln Missense 15/32 -
8-2033495-G-C MYOM2 c.1617G>C p.Lys539Asn Missense 14/37 -
6-31836994-C-T SLC44A4 c.1045G>A p.Ala349Thr Missense 12/20 -
4-110681763-C-T CFI c.688G>A p.Val230Met Missense 5/13 -
12-48380926-G-A COL2A1 c.1300C>T p.Pro434Ser Missense 21/54 -
6-31931747-G-A SKIV2L c.1705G>A p.Val569Met Missense 16/28 -
6-31931747-G-C SKIV2L c.1705G>C p.Val569Leu Missense 16/28 -
19-5844406-G-T FUT3 c.445C>A p.Leu149Met Missense 3/3 -
19-5844406-G-A FUT3 c.445C>T p.Leu149Leu Synonymous 3/3 -
4-76943947-G-A CXCL10 c.85C>T p.Arg29Cys Missense 2/4 -
20-60897158-C-A LAMA5 c.6413G>T p.Ser2138Ile Missense 48/80 -
16-2112558-G-A TSC2 c.1318G>A p.Gly440Ser Missense 13/42 -
17-1673303-C-G SERPINF1 c.242C>G p.Ser81Cys Missense 3/8 -
17-1673303-C-A SERPINF1 c.242C>A p.Ser81Tyr Missense 3/8 -
7-99564870-C-T AZGP1 c.653G>A p.Gly218Glu Missense 4/4 -
4-69796307-C-T UGT2A3 c.1261G>A p.Glu421Lys Missense 5/6 -
15-81592311-C-T IL16 c.2644C>T p.Arg882Trp Missense 14/19 -
20-60893635-C-G LAMA5 c.7114G>C p.Asp2372His Missense 53/80 -
20-60893635-C-T LAMA5 c.7114G>A p.Asp2372Asn Missense 53/80 -
2-215821412-C-T ABCA12 c.6208G>A p.Val2070Ile Missense 42/53 -
16-2133798-G-A TSC2 c.3986G>A p.Arg1329His Missense 33/42 -
6-31836976-G-A SLC44A4 c.1063C>T p.Pro355Ser Missense 12/20 -
9-101767303-G-A COL15A1 c.1324G>A p.Ala442Thr Missense 9/42 -
9-101767303-G-T COL15A1 c.1324G>T p.Ala442Ser Missense 9/42 -
1-63063616-C-T ANGPTL3 c.379C>T p.Leu127Phe Missense 1/7 -
4-84216649-G-A HPSE c.1480C>T p.Gln494* Nonsense 13/13 -
17-6908625-G-A ALOX12 c.1211G>A p.Arg404Gln Missense 9/14 -
1-151503071-G-C CGN c.2420G>C p.Arg807Pro Missense 13/21 -
2-21232455-A-T APOB c.7285T>A p.Ser2429Thr Missense 26/29 -
1-183079729-C-T LAMC1 c.961C>T p.Pro321Ser Missense 4/28 -
5-141993631-C-T FGF1 c.62G>A p.Gly21Glu Missense 2/4 -
20-10625624-C-T JAG1 c.2231G>A p.Arg744Gln Missense 18/26 -
15-39885869-G-C THBS1 c.3267G>C p.Gln1089His Missense 19/22 -
11-68177524-C-T LRP5 c.2234C>T p.Ala745Val Missense 10/23 -
2-21232455-A-C APOB c.7285T>G p.Ser2429Ala Missense 26/29 -
19-54848144-T-A LILRA4 c.1223A>T p.His408Leu Missense 6/8 -
6-401527-C-G IRF4 c.846C>G p.Asp282Glu Missense 7/9 -
6-30680111-T-C MDC1 c.1608A>G p.Ile536Met Missense 5/15 -
3-48629340-G-A COL7A1 c.1348C>T p.Arg450Cys Missense 10/118 -
8-2041834-A-C MYOM2 c.2041A>C p.Ile681Leu Missense 17/37 -
9-101782725-G-A COL15A1 c.1701+1G>A - IntronicSNV - 12/41
9-101782725-G-T COL15A1 c.1701+1G>T - IntronicSNV - 12/41
9-136302063-C-T ADAMTS13 c.1423C>T p.Pro475Ser Missense 12/29 -
6-32011639-T-C TNXB c.11411A>G p.Gln3804Arg Missense 35/44 -
9-15187992-A-T TTC39B c.1372T>A p.Cys458Ser Missense 14/20 -
5-35646784-A-G SPEF2 c.601A>G p.Arg201Gly Missense 5/10 -
19-6707129-G-A C3 c.2203C>T p.Arg735Trp Missense 17/41 -
22-38565343-C-T PLA2G6 c.91G>A p.Asp31Asn Missense 2/16 -
17-33255068-C-A CCT6B c.1592G>T - Missense 14/14 -
20-44639599-C-G MMP9 c.559C>G p.Leu187Val Missense 4/13 -
20-44639599-C-T MMP9 c.559C>T p.Leu187Phe Missense 4/13 -
20-44639599-C-A MMP9 c.559C>A p.Leu187Ile Missense 4/13 -
2-227917090-T-C COL4A4 c.2899A>G p.Ile967Val Missense 32/48 -
7-100014021-C-T ZCWPW1 c.538G>A p.Glu180Lys Missense 7/18 -
19-54848145-G-A LILRA4 c.1222C>T p.His408Tyr Missense 6/8 -
19-54848145-G-C LILRA4 c.1222C>G p.His408Asp Missense 6/8 -
8-18258126-A-G NAT2 c.613A>G p.Met205Val Missense 2/2 -
6-31544562-C-T TNF c.251C>T p.Pro84Leu Missense 3/4 -
6-31544562-C-G TNF c.251C>G p.Pro84Arg Missense 3/4 -
20-60928304-A-G LAMA5 c.454T>C p.Phe152Leu Missense 3/80 -
9-137801759-T-C FCN1 c.866A>G p.Asn289Ser Missense 9/9 -
7-150693604-G-C NOS3 c.383G>C p.Arg128Pro Missense 4/27 -
7-150693604-G-A NOS3 c.383G>A p.Arg128Gln Missense 4/27 -
4-110667590-C-T CFI c.1217G>A p.Arg406His Missense 11/13 -
13-47303075-C-A LRCH1 c.1858C>A p.Arg620Ser Missense 17/19 -
1-155030364-G-A ADAM15 c.1454G>A p.Gly485Glu Missense 14/21 -
8-6479161-A-T MCPH1 c.2401A>T p.Ser801Cys Missense 13/14 -
6-31779728-C-G HSPA1L c.22G>C p.Ala8Pro Missense 2/2 -
9-133928352-G-C LAMC3 c.1939G>C p.Gly647Arg Missense 11/28 -
9-133928352-G-T LAMC3 c.1939G>T p.Gly647Cys Missense 11/28 -
12-29423524-G-T FAR2 c.142G>T p.Ala48Ser Missense 2/12 -
12-29423524-G-A FAR2 c.142G>A p.Ala48Thr Missense 2/12 -
21-47536717-G-A COL6A2 c.988G>A p.Asp330Asn Missense 10/28 -
1-183197677-C-T LAMC2 c.1637C>T p.Ala546Val Missense 11/23 -
3-107435532-C-T BBX c.241C>T p.Arg81Trp Missense 5/17 -
4-110681450-C-T CFI c.859G>A p.Gly287Arg Missense 6/13 -
13-47303075-C-T LRCH1 c.1858C>T p.Arg620Cys Missense 17/19 -
20-56728632-G-A C20orf85 c.101G>A p.Arg34Gln Missense 2/4 -
20-56728632-G-T C20orf85 c.101G>T p.Arg34Leu Missense 2/4 -
8-6479161-A-G MCPH1 c.2401A>G p.Ser801Gly Missense 13/14 -
12-12279793-C-A LRP6 c.4144G>T p.Val1382Phe Missense 20/23 -
1-68910315-C-T RPE65 c.394G>A p.Ala132Thr Missense 5/14 -
8-2040288-G-A MYOM2 c.1943G>A p.Cys648Tyr Missense 16/37 -
19-47844951-C-G C5AR2 c.895C>G p.Leu299Val Missense 2/2 -
8-27462662-G-A CLU c.608C>T p.Thr203Ile Missense 5/9 -
4-110908933-T-C EGF c.2525T>C p.Met842Thr Missense 17/23 -
17-73733421-G-A ITGB4 c.2009G>A p.Arg670His Missense 17/40 -
11-6432089-A-C APBB1 c.489T>G p.Asp163Glu Missense 2/15 -
14-96157206-C-T TCL1B c.296C>T p.Ala99Val Missense 2/4 -
17-73733421-G-T ITGB4 c.2009G>T p.Arg670Leu Missense 17/40 -
16-31383786-C-T ITGAX c.2248C>T p.Arg750Trp Missense 18/30 -
16-31383786-C-A ITGAX c.2248C>A p.Arg750Arg Synonymous 18/30 -
7-94940880-A-C PON1 c.380T>G p.Met127Arg Missense 5/9 -
3-9974882-A-G IL17RC c.1723A>G p.Ser575Gly Missense 18/18 -
4-110681708-C-T CFI c.743G>A p.Gly248Glu Missense 5/13 -
16-53321892-A-G CHD9 c.5213A>G p.Lys1738Arg Missense 27/39 -
4-41015942-A-G APBB2 c.493T>C p.Tyr165His Missense 6/17 -
8-20036702-C-T SLC18A1 c.418G>A p.Gly140Arg Missense 4/17 -
16-2133701-G-A TSC2 c.3889G>A p.Ala1297Thr Missense 33/42 -
1-155030534-G-A ADAM15 c.1624G>A p.Ala542Thr Missense 14/21 -
1-161642981-C-T FCGR2B c.608C>T p.Thr203Met Missense 4/8 -
6-116381177-T-C FRK c.298A>G p.Ile100Val Missense 1/8 -
10-50732202-T-G ERCC6 c.1274A>C p.Asp425Ala Missense 5/21 -
2-21228263-G-T APOB c.11477C>A p.Thr3826Lys Missense 26/29 -
15-62204043-G-A VPS13C c.8582C>T p.Ser2861Leu Missense 61/83 -
16-31391381-G-A ITGAX c.3055G>A p.Val1019Met Missense 26/30 -
17-33269927-T-C CCT6B c.615-2A>G - IntronicSNV - 5/13
17-33269927-T-G CCT6B c.615-2A>C - IntronicSNV - 5/13
7-143088584-C-T EPHA1 c.2897G>A p.Arg966His Missense 18/18 -
3-48621017-G-A COL7A1 c.4373C>T p.Pro1458Leu Missense 40/118 -
12-120660780-C-T PXN c.379G>A p.Ala127Thr Missense 4/11 -
12-120660780-C-G PXN c.379G>C p.Ala127Pro Missense 4/11 -
7-99809499-G-A STAG3 c.3597G>A p.Met1199Ile Missense 32/34 -
1-196684857-GTG-ATC CFH c.1654_1656delGTGinsATC p.Val552Ile Missense 11/22 -
5-169310407-C-T DOCK2 c.2799+42551C>T - IntronicSNV - 27/51
6-32041621-G-A TNXB c.4484C>T p.Thr1495Ile Missense 12/44 -
4-37444961-G-A NWD2 c.1351G>A p.Val451Met Missense 7/7 -
1-249211619-G-A PGBD2 c.83G>A p.Arg28Gln Missense 3/3 -
6-161006084-G-A LPA c.4283C>T p.Pro1428Leu Missense 26/39 -
9-107589238-C-G ABCA1 c.2328G>C p.Lys776Asn Missense 16/50 -
16-2112989-G-A TSC2 c.1378G>A p.Ala460Thr Missense 14/42 -
4-110590479-G-A MCUB c.451+4929G>A - IntronicSNV - 4/7
6-30681090-G-A MDC1 c.629C>T p.Pro210Leu Missense 5/15 -
17-48629370-G-A SPATA20 c.1786G>A p.Val596Met Missense 14/17 -
2-3673680-A-G COLEC11 c.203-11443A>G - IntronicSNV - 3/6
1-227071449-G-A PSEN2 c.185G>A p.Arg62His Missense 5/13 -
15-66813452-C-T ZWILCH c.656C>T p.Thr219Ile Missense 7/19 -
17-37226111-C-T PLXDC1 c.1381G>A p.Glu461Lys Missense 13/14 -
8-23106860-C-T CHMP7 c.437C>T p.Ala146Val Missense 3/11 -
5-169310407-C-G DOCK2 c.2799+42551C>G - IntronicSNV - 27/51
4-37445144-A-G NWD2 c.1534A>G p.Ile512Val Missense 7/7 -
1-120548095-C-T NOTCH2 c.272G>A p.Arg91Gln Missense 3/34 -
1-68904660-A-C RPE65 c.963T>G p.Asn321Lys Missense 9/14 -
8-116631660-T-C TRPS1 c.665A>G p.Asn222Ser Missense 3/7 -
9-87325623-C-A NTRK2 c.500C>A p.Ser167Tyr Missense 8/15 -
16-31340609-G-T ITGAM c.2853G>T p.Met951Ile Missense 24/30 -
4-69811110-A-C UGT2A3 c.778T>G p.Trp260Gly Missense 2/6 -
4-69811110-A-T UGT2A3 c.778T>A p.Trp260Arg Missense 2/6 -
3-9959410-G-A IL17RC c.119G>A p.Arg40His Missense 2/18 -
4-110590479-G-T MCUB c.451+4929G>T - IntronicSNV - 4/7
11-61730325-C-T BEST1 c.1699C>T p.Leu567Phe Missense 10/11 -
11-61730325-C-G BEST1 c.1699C>G p.Leu567Val Missense 10/11 -
9-133884693-G-T LAMC3 c.92G>T p.Arg31Leu Missense 1/28 -
9-107582258-T-C ABCA1 c.3053A>G p.Asp1018Gly Missense 21/50 -
1-11106630-G-A MASP2 c.395C>T p.Ala132Val Missense 3/11 -
6-31916951-T-C CFB c.1169-69T>C - IntronicSNV - 8/17
22-31534280-G-A PLA2G3 c.764C>T p.Ala255Val Missense 3/7 -
7-99757982-T-C GAL3ST4 c.1030A>G p.Ser344Gly Missense 4/4 -
4-177650866-C-T VEGFC c.182G>A p.Arg61Gln Missense 2/7 -
6-43565568-G-T POLH c.626G>T p.Gly209Val Missense 5/11 -
1-186072648-G-A HMCN1 c.10618G>A p.Val3540Ile Missense 69/107 -
14-62204819-G-T HIF1A c.1264G>T p.Asp422Tyr Missense 10/15 -
9-137777120-C-T FCN2 c.337C>T p.His113Tyr Missense 5/8 -
9-72071342-T-C APBA1 c.1609A>G p.Met537Val Missense 8/13 -
4-57797230-C-G REST c.2206C>G p.Pro736Ala Missense 4/4 -
15-42740560-T-C ZNF106 c.2776A>G p.Arg926Gly Missense 3/19 -
1-196918738-C-T CFHR2 c.212C>T p.Thr71Met Missense 2/5 -
2-21229446-G-C APOB c.10294C>G p.Gln3432Glu Missense 26/29 -
1-183204796-C-T LAMC2 c.2387C>T p.Ala796Val Missense 16/23 -
15-42734481-G-T ZNF106 c.3484C>A p.Pro1162Thr Missense 7/19 -
17-66928460-T-C ABCA8 c.766A>G p.Thr256Ala Missense 6/38 -
6-30632655-T-C DHX16 c.1240A>G p.Asn414Asp Missense 7/20 -
12-9360927-T-C PZP c.11A>G p.Asp4Gly Missense 1/36 -
6-43604268-A-G MAD2L1BP c.197A>G p.Gln66Arg Missense 2/3 -
5-174869327-G-T DRD1 c.776C>A p.Ser259Tyr Missense 2/2 -
11-36614841-T-C RAG2 c.878A>G p.Glu293Gly Missense 2/2 -
4-120422407-T-G PDE5A c.2408A>C p.Asp803Ala Missense 20/21 -
6-169626325-C-T THBS2 c.2488G>A p.Gly830Ser Missense 17/23 -
6-31747833-G-A VARS c.3023C>T p.Pro1008Leu Missense 26/30 -
1-185976370-A-G HMCN1 c.4586A>G p.Asn1529Ser Missense 30/107 -
1-207510733-A-G CD55 c.1039A>G p.Lys347Glu Missense 8/10 -
11-36614215-T-C RAG2 c.1504A>G p.Met502Val Missense 2/2 -
17-48625801-A-G SPATA20 c.283A>G p.Asn95Asp Missense 3/17 -
2-21242613-G-A APOB c.2981C>T p.Pro994Leu Missense 19/29 -
2-189851842-C-T COL3A1 c.505C>T p.Leu169Phe Missense 5/51 -
20-44637635-C-T MMP9 c.70C>T p.Arg24Cys Missense 1/13 -
6-32011639-T-A TNXB c.11411A>T p.Gln3804Leu Missense 35/44 -
6-161152085-G-A PLG c.1259G>A p.Gly420Asp Missense 11/19 -
15-42734481-G-A ZNF106 c.3484C>T p.Pro1162Ser Missense 7/19 -
5-7831992-G-T C5orf49 c.415C>A p.Pro139Thr Missense 3/3 -
5-7831992-G-A C5orf49 c.415C>T p.Pro139Ser Missense 3/3 -
9-107599376-A-G ABCA1 c.1196T>C p.Val399Ala Missense 11/50 -
16-55853498-G-C CES1 c.852C>G p.His284Gln Missense 7/14 -
1-94528774-C-T ABCA4 c.1654G>A p.Val552Ile Missense 12/50 -
10-26856265-G-T APBB1IP c.1849G>T p.Ala617Ser Missense 15/15 -
4-120423809-A-T PDE5A c.2333T>A p.Ile778Lys Missense 19/21 -
16-66847575-C-T NAE1 c.926G>A p.Arg309His Missense 13/20 -
4-72622601-T-C GC c.862A>G p.Asn288Asp Missense 8/13 -
4-120423809-A-G PDE5A c.2333T>C p.Ile778Thr Missense 19/21 -
6-31930462-G-A SKIV2L c.1212-29G>A - IntronicSNV - 11/27
20-61453127-G-A COL9A3 c.388G>A p.Gly130Ser Missense 8/32 -
10-1284303-C-T ADARB2 c.1252G>A p.Gly418Ser Missense 5/10 -
1-186121995-A-T HMCN1 c.15010A>T p.Thr5004Ser Missense 96/107 -
4-1806131-T-C FGFR3 c.1150T>C p.Phe384Leu Missense 9/18 -
5-39331786-T-C C9 c.607A>G p.Ile203Val Missense 5/11 -
1-196963213-G-A CFHR5 c.434G>A p.Gly145Glu Missense 4/10 -
15-75013051-C-A CYP1A1 c.1318G>T p.Asp440Tyr Missense 7/7 -
1-57341737-C-T C8A c.319C>T p.Arg107Cys Missense 4/11 -
2-21224850-T-A APOB c.13444A>T p.Ile4482Phe Missense 29/29 -
1-94505604-A-C ABCA4 c.3602T>G p.Leu1201Arg Missense 24/50 -
2-21224850-T-C APOB c.13444A>G p.Ile4482Val Missense 29/29 -
2-21225912-C-A APOB c.12382G>T p.Val4128Leu Missense 29/29 -
2-215798851-G-A ABCA12 c.7631C>T p.Thr2544Ile Missense 52/53 -
2-227660067-C-G IRS1 c.3388G>C p.Gly1130Arg Missense 1/2 -
1-206905941-G-T MAPKAPK2 c.*505G>T - 3-UTRSNV 10/10 -
4-177713326-T-A VEGFC c.140A>T p.Glu47Val Missense 1/7 -
17-48275339-G-C COL1A1 c.613C>G p.Pro205Ala Missense 8/51 -
6-31750517-T-C VARS c.1868A>G p.Asn623Ser Missense 15/30 -
3-100951820-G-A IMPG2 c.3038C>T p.Pro1013Leu Missense 15/19 -
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
22-42523610-C-T CYP2D6 c.1012G>A p.Val338Met Missense 7/9 -
10-105800115-C-T COL17A1 c.2755G>A p.Asp919Asn Missense 40/56 -
6-32032628-C-G TNXB c.6811G>C p.Val2271Leu Missense 19/44 -
9-135781205-T-C TSC1 c.1760A>G p.Lys587Arg Missense 15/23 -
6-76731868-C-T IMPG1 c.631G>A p.Asp211Asn Missense 6/17 -
1-120469147-T-C NOTCH2 c.3980A>G p.Asp1327Gly Missense 24/34 -
12-123808302-C-T SBNO1 c.2047G>A p.Asp683Asn Missense 16/32 -
16-81323953-G-C BCO1 c.1415G>C p.Gly472Ala Missense 11/11 -
3-9974543-G-C IL17RC c.1477+1G>C - IntronicSNV - 17/17
11-10521644-T-G AMPD3 c.1596T>G p.Phe532Leu Missense 11/15 -
15-62212298-C-T VPS13C c.7316G>A p.Arg2439His Missense 55/83 -
9-137726950-C-T COL5A1 c.5270C>T p.Thr1757Met Missense 65/66 -
19-31769366-C-T TSHZ3 c.1333G>A p.Val445Met Missense 2/2 -
19-31769366-C-G TSHZ3 c.1333G>C p.Val445Leu Missense 2/2 -
11-34475387-C-T CAT c.625C>T p.His209Tyr Missense 6/13 -
11-34475387-C-A CAT c.625C>A p.His209Asn Missense 6/13 -
9-114994395-G-C PTBP3 c.1004C>G p.Thr335Arg Missense 9/14 -
1-233296041-G-A PCNX2 c.3505C>T p.Arg1169Trp Missense 19/34 -
9-6255967-G-C IL33 c.613-1G>C - IntronicSNV - 7/7
20-60898581-T-C LAMA5 c.5995A>G p.Thr1999Ala Missense 45/80 -
6-116446506-A-T COL10A1 c.150T>A p.Ser50Arg Missense 2/3 -
17-61556415-G-C ACE c.465G>C p.Lys155Asn Missense 3/25 -
10-50678884-T-G ERCC6 c.3122A>C p.Gln1041Pro Missense 18/21 -
4-55138648-T-C PDGFRA c.1325T>C p.Leu442Pro Missense 9/23 -
10-50678884-T-A ERCC6 c.3122A>T p.Gln1041Leu Missense 18/21 -
9-136320444-G-T ADAMTS13 c.3287G>T p.Arg1096Leu Missense 25/29 -
2-206581033-G-A NRP2 c.368G>A p.Arg123Lys Missense 3/17 -
1-197297965-G-A CRB1 c.484G>A p.Val162Met Missense 2/12 -
4-178283446-G-T NEIL3 c.1639G>T p.Ala547Ser Missense 10/10 -
2-20234122-C-A LAPTM4A c.583G>T p.Val195Leu Missense 6/7 -
22-42523475-C-G CYP2D6 c.1147G>C p.Glu383Gln Missense 7/9 -
6-161137790-G-C PLG c.782G>C p.Arg261Pro Missense 7/19 -
2-20234122-C-T LAPTM4A c.583G>A p.Val195Met Missense 6/7 -
6-161137790-G-A PLG c.782G>A p.Arg261His Missense 7/19 -
6-32032628-C-T TNXB c.6811G>A p.Val2271Met Missense 19/44 -
1-196920053-A-G CFHR2 c.325A>G p.Thr109Ala Missense 3/5 -
11-46880592-G-C LRP4 c.5660C>G p.Ser1887Cys Missense 38/38 -
8-135602591-C-T ZFAT c.2447G>A p.Arg816Lys Missense 9/17 -
16-17292204-G-A XYLT1 c.1154C>T p.Pro385Leu Missense 5/12 -
15-62148607-G-A VPS13C c.10825C>T p.Arg3609* Nonsense 81/83 -
9-6250600-G-A IL33 c.217+1G>A - IntronicSNV - 3/7
10-81372080-C-T SFTPA1 c.185C>T p.Pro62Leu Missense 4/6 -
1-100476986-G-C SLC35A3 c.531G>C p.Met177Ile Missense 5/8 -
6-76640695-G-A IMPG1 c.2218C>T p.Leu740Phe Missense 15/17 -
16-76555177-A-T CNTNAP4 c.2503A>T - missense_variant 17/25 -
1-161641187-C-T FCGR2B c.139C>T p.Pro47Ser Missense 3/8 -
5-123983778-C-T ZNF608 c.2299G>A p.Gly767Arg Missense 4/9 -
1-196928157-C-T CFHR2 c.760C>T p.Arg254* Nonsense 5/5 -
4-128632210-T-C INTU c.2512T>C p.Cys838Arg Missense 14/16 -
15-89448988-C-T MFGE8 c.685G>A p.Gly229Arg Missense 5/8 -
10-50690906-G-A ERCC6 c.1996C>T p.Arg666Cys Missense 10/21 -
1-227071475-C-T PSEN2 c.211C>T p.Arg71Trp Missense 5/13 -
1-94502906-C-T ABCA4 c.3608G>A p.Gly1203Glu Missense 25/50 -
16-57015076-G-C CETP c.1153G>C p.Val385Leu Missense 12/16 -
16-57015076-G-A CETP c.1153G>A p.Val385Met Missense 12/16 -
9-133948184-G-C LAMC3 c.3379G>C p.Glu1127Gln Missense 19/28 -
21-46913477-G-C COL18A1 c.2880G>C p.Gln960His Missense 25/41 -
17-61574284-C-G ACE c.3629C>G p.Thr1210Arg Missense 24/25 -
17-61574284-C-T ACE c.3629C>T p.Thr1210Met Missense 24/25 -
20-23064912-T-A CD93 c.1918A>T p.Met640Leu Missense 1/2 -
16-76555177-A-G CNTNAP4 c.2503A>G - missense_variant 17/25 -
15-66845438-T-G LCTL c.1081A>C p.Ser361Arg Missense 10/14 -
11-46911956-T-C LRP4 c.1787A>G p.His596Arg Missense 14/38 -
6-116422098-C-T NT5DC1 c.5C>T p.Ala2Val Missense 1/12 -
10-105800115-C-G COL17A1 c.2755G>C p.Asp919His Missense 40/56 -
2-165551128-G-A COBLL1 c.2888C>T p.Ser963Phe Missense 12/14 -
1-103444970-A-T COL11A1 c.2230T>A p.Phe744Ile Missense 30/65 -
6-70890368-G-T COL19A1 c.2728G>T p.Val910Phe Missense 44/51 -
5-41149448-C-T C6 c.2518G>A p.Gly840Ser Missense 17/18 -
20-60911398-G-A LAMA5 c.2321C>T p.Thr774Ile Missense 18/80 -
20-23065689-C-T CD93 c.1141G>A p.Gly381Arg Missense 1/2 -
4-110687919-T-C CFI c.119A>G p.His40Arg Missense 2/13 -
1-226026377-C-A EPHX1 c.387C>A p.His129Gln Missense 4/9 -
16-17353090-G-C XYLT1 c.668C>G p.Ala223Gly Missense 3/12 -
6-30548210-A-G ABCF1 c.592A>G p.Asn198Asp Missense 8/25 -
7-2748787-T-C AMZ1 c.680T>C p.Val227Ala Missense 5/7 -
2-46839434-T-C PIGF c.370A>G p.Thr124Ala Missense 4/7 -
22-32914231-C-G SYN3 c.1406G>C p.Ser469Thr Missense 13/14 -
22-32914231-C-T SYN3 c.1406G>A p.Ser469Asn Missense 13/14 -
1-11102940-G-A MASP2 c.881C>T p.Thr294Met Missense 6/11 -
6-31732059-T-C SAPCD1 c.368T>C p.Leu123Pro Missense 4/5 -
11-46900530-T-C LRP4 c.3064A>G p.Asn1022Asp Missense 22/38 -
6-31730919-C-T SAPCD1 c.88C>T p.Pro30Ser Missense 1/5 -
3-52551981-G-A STAB1 c.4723G>A p.Val1575Met Missense 45/69 -
17-21208417-G-T MAP2K3 c.751G>T p.Val251Phe Missense 9/12 -
12-125299559-G-A SCARB1 c.386C>T p.Ser129Leu Missense 3/13 -
1-196679455-A-C CFH c.1337-3410A>C - IntronicSNV - 9/21
6-31938188-G-C DXO c.880C>G p.Arg294Gly Missense 5/7 -
6-31938188-G-A DXO c.880C>T p.Arg294Cys Missense 5/7 -
16-76486472-A-T CNTNAP4 c.1136A>T - missense_variant 9/25 -
16-2120487-G-A TSC2 c.1747G>A p.Ala583Thr Missense 17/42 -
5-40959622-C-A C7 c.1561C>A p.Arg521Ser Missense 12/18 -
6-30624241-T-C DHX16 c.2357A>G p.Tyr786Cys Missense 15/20 -
7-99474158-G-T OR2AE1 c.499C>A p.Pro167Thr Missense 1/1 -
5-156918697-G-C ADAM19 c.2021C>G p.Pro674Arg Missense 18/23 -
9-137777100-A-G FCN2 c.317A>G p.Lys106Arg Missense 5/8 -
1-57373737-G-T C8A c.1331G>T p.Arg444Leu Missense 9/11 -
7-99971735-A-G PILRA c.133A>G p.Met45Val Missense 2/7 -
2-228110691-C-T COL4A3 c.346C>T p.Pro116Ser Missense 6/52 -
2-228110691-C-A COL4A3 c.346C>A p.Pro116Thr Missense 6/52 -
9-130588920-G-T ENG c.392C>A p.Pro131Gln Missense 4/14 -
14-62187212-G-C HIF1A c.148G>C p.Val50Leu Missense 2/15 -
1-57373737-G-A C8A c.1331G>A p.Arg444His Missense 9/11 -
6-31848492-G-C EHMT2 c.3410C>G p.Ala1137Gly Missense 27/28 -
10-105794406-G-T COL17A1 c.3739C>A p.Arg1247Arg Synonymous 51/56 -
10-105794406-G-A COL17A1 c.3739C>T p.Arg1247Trp Missense 51/56 -
10-105794406-G-C COL17A1 c.3739C>G p.Arg1247Gly Missense 51/56 -
1-94517254-C-T ABCA4 c.2588G>A p.Gly863Glu Missense 17/50 -
1-94517254-C-G ABCA4 c.2588G>C p.Gly863Ala Missense 17/50 -
8-38879190-C-T ADAM9 c.701C>T p.Ala234Val Missense 8/22 -
1-155028450-C-T ADAM15 c.718C>T p.Leu240Leu Synonymous 8/21 -
18-63476982-A-G CDH7 c.253A>G p.Ile85Val Missense 3/12 -
13-95705380-G-C ABCC4 c.3425C>G p.Thr1142Arg Missense 27/31 -
7-150707344-G-T NOS3 c.2654G>T p.Arg885Met Missense 21/27 -
16-31391120-T-C ITGAX c.2911T>C p.Phe971Leu Missense 25/30 -
1-185976299-C-G HMCN1 c.4515C>G p.Asp1505Glu Missense 30/107 -
8-23082477-G-A TNFRSF10A c.98C>T p.Thr33Ile Missense 1/10 -
1-156786487-A-T SH2D2A c.14T>A p.Leu5Gln Missense 1/9 -
1-196709816-G-T CFH c.2850G>T p.Gln950His Missense 18/22 -
3-52551973-C-A STAB1 c.4715C>A p.Ala1572Asp Missense 45/69 -
1-186072727-G-A HMCN1 c.10697G>A p.Gly3566Asp Missense 69/107 -
20-44540037-A-G PLTP c.55T>C p.Phe19Leu Missense 2/16 -
14-103600056-C-T TNFAIP2 c.1739C>T p.Thr580Met Missense 10/11 -
6-116446576-A-G COL10A1 c.80T>C p.Met27Thr Missense 2/3 -
6-116446576-A-C COL10A1 c.80T>G p.Met27Arg Missense 2/3 -
7-150707344-G-A NOS3 c.2654G>A p.Arg885Lys Missense 21/27 -
3-171321023-C-T PLD1 c.3070G>A p.Val1024Ile Missense 27/27 -
1-196709816-G-A CFH c.2850G>A p.Gln950Gln Synonymous 18/22 -
3-52551973-C-T STAB1 c.4715C>T p.Ala1572Val Missense 45/69 -
9-136319670-C-T ADAMTS13 c.3178C>T p.Arg1060Trp Missense 24/29 -
9-137708884-C-T COL5A1 c.4135C>T p.Pro1379Ser Missense 53/66 -
3-52554531-G-A STAB1 c.5615G>A p.Arg1872His Missense 53/69 -
3-171452701-C-T PLD1 c.494G>A p.Arg165His Missense 5/27 -
19-6736607-A-G GPR108 c.236T>C p.Leu79Pro Missense 2/18 -
4-110663722-C-A CFI c.1459G>T p.Gly487Cys Missense 12/13 -
22-45960864-G-T FBLN1 c.1698-9527G>T - IntronicSNV - 14/16
17-21205561-T-C MAP2K3 c.506T>C p.Ile169Thr Missense 6/12 -
22-45960864-G-A FBLN1 c.1698-9527G>A - IntronicSNV - 14/16
10-105816862-C-T COL17A1 c.1336G>A p.Gly446Ser Missense 17/56 -
15-75014027-A-G CYP1A1 c.857T>C p.Ile286Thr Missense 3/7 -
10-105816862-C-G COL17A1 c.1336G>C p.Gly446Arg Missense 17/56 -
10-55600246-G-T PCDH15 c.3817C>A p.Arg1273Ser Missense 29/33 -
21-47552089-A-C COL6A2 c.2683A>C p.Ser895Arg Missense 28/28 -
19-6734232-G-A GPR108 c.461C>T p.Pro154Leu Missense 5/18 -
17-21208417-G-A MAP2K3 c.751G>A p.Val251Ile Missense 9/12 -
2-9633092-C-T ADAM17 c.2017G>A p.Val673Ile Missense 17/19 -
3-52548194-C-T STAB1 c.3511C>T p.Arg1171Cys Missense 33/69 -
15-62146742-T-C VPS13C c.11047A>G p.Ile3683Val Missense 83/83 -
1-120548095-C-A NOTCH2 c.272G>T p.Arg91Leu Missense 3/34 -
21-47552386-G-A COL6A2 c.2980G>A p.Ala994Thr Missense 28/28 -
9-2639898-A-G VLDLR c.242A>G p.Asn81Ser Missense 3/19 -
20-61449904-C-T COL9A3 c.182C>T p.Pro61Leu Missense 3/32 -
16-17211545-C-T XYLT1 c.2515G>A p.Val839Ile Missense 11/12 -
10-50680422-C-A ERCC6 c.2924G>T p.Arg975Leu Missense 16/21 -
4-110681470-C-T CFI c.839G>A p.Gly280Asp Missense 6/13 -
5-156923974-C-T ADAM19 c.1522G>A p.Gly508Ser Missense 14/23 -
1-203452409-G-C PRELP c.97G>C p.Gly33Arg Missense 2/3 -
1-57406638-G-T C8B c.1282C>A p.Arg428Arg Synonymous 9/12 -
1-57406638-G-A C8B c.1282C>T p.Arg428* Nonsense 9/12 -
1-100575941-C-G SASS6 c.768G>C p.Glu256Asp Missense 8/17 -
1-100575941-C-T SASS6 c.768G>A p.Glu256Glu Synonymous 8/17 -
2-21230828-T-G APOB c.8912A>C p.Asn2971Thr Missense 26/29 -
6-116720466-G-C DSE c.53G>C p.Cys18Ser Missense 2/6 -
7-150698349-G-A NOS3 c.1264G>A p.Ala422Thr Missense 11/27 -
7-100091306-C-T NYAP1 c.2306C>T p.Pro769Leu Missense 7/7 -
19-54848722-C-T LILRA4 c.901G>A p.Val301Ile Missense 5/8 -
9-120476817-G-A TLR4 c.2411G>A p.Arg804Gln Missense 3/3 -
16-53265391-T-C CHD9 c.2347T>C p.Phe783Leu Missense 9/39 -
2-21225500-A-G APOB c.12794T>C p.Val4265Ala Missense 29/29 -
10-55581779-T-C PCDH15 c.5707A>G p.Ile1903Val Missense 33/33 -
5-39342243-T-A C9 c.133A>T p.Met45Leu Missense 2/11 -
12-57569339-G-T LRP1 c.3644G>T p.Gly1215Val Missense 23/89 -
17-6901889-A-C ALOX12 c.399A>C p.Lys133Asn Missense 3/14 -
10-50680422-C-T ERCC6 c.2924G>A p.Arg975Gln Missense 16/21 -
1-31347320-G-C SDC3 c.986C>G p.Thr329Arg Missense 4/5 -
1-22964120-C-G C1QA c.11C>G p.Pro4Arg Missense 2/3 -
4-55968597-G-A KDR c.2066C>T p.Thr689Met Missense 14/30 -
2-21234674-C-T APOB c.5066G>A p.Arg1689His Missense 26/29 -
16-66436722-G-A CDH5 c.2005G>A p.Gly669Ser Missense 12/12 -
6-32097421-G-C FKBPL c.137C>G p.Thr46Arg Missense 2/2 -
20-60884852-G-A LAMA5 c.10868C>T p.Ala3623Val Missense 79/80 -
1-196927185-G-T CFHR2 c.595G>T p.Glu199* Nonsense 4/5 -
19-54848722-C-G LILRA4 c.901G>C p.Val301Leu Missense 5/8 -
6-116574940-C-T TSPYL4 c.232G>A p.Ala78Thr Missense 1/1 -
10-105840422-T-C COL17A1 c.10A>G p.Thr4Ala Missense 2/56 -
1-63063465-C-G ANGPTL3 c.228C>G p.Asn76Lys Missense 1/7 -
9-107594878-G-A ABCA1 c.1486C>T p.Arg496Trp Missense 12/50 -
4-110681527-C-G CFI c.782G>C p.Gly261Ala Missense 6/13 -
21-46897893-T-C COL18A1 c.1761+14T>C - IntronicSNV - 7/40
15-62212770-T-C VPS13C c.7010A>G p.His2337Arg Missense 54/83 -
4-15835921-G-T CD38 c.581G>T p.Arg194Leu Missense 4/8 -
4-15835921-G-A CD38 c.581G>A p.Arg194His Missense 4/8 -
7-99817570-C-T PVRIG c.37C>T p.Pro13Ser Missense 2/6 -
15-62212770-T-A VPS13C c.7010A>T p.His2337Leu Missense 54/83 -
3-9970031-A-G IL17RC c.875A>G p.Gln292Arg Missense 10/18 -
11-1775352-C-T CTSD c.844G>A p.Gly282Arg Missense 7/9 -
10-81371595-C-T SFTPA1 c.14C>T p.Pro5Leu Missense 3/6 -
4-110663677-G-A CFI c.1504C>T p.Arg502Cys Missense 12/13 -
11-10518373-C-T AMPD3 c.1472C>T p.Ser491Leu Missense 10/15 -
7-150706640-G-A NOS3 c.2479G>A p.Val827Met Missense 20/27 -
11-10518373-C-G AMPD3 c.1472C>G p.Ser491* Nonsense 10/15 -
1-207641950-C-G CR2 c.524C>G p.Pro175Arg Missense 3/19 -
13-80095078-G-A NDFIP2 c.455G>A p.Ser152Asn Missense 2/8 -
6-31687027-G-C LY6G6C c.224C>G p.Ala75Gly Missense 3/3 -
4-57843291-C-A NOA1 c.461G>T p.Gly154Val Missense 1/7 -
7-73010191-C-T MLXIPL c.2167G>A p.Glu723Lys Missense 14/17 -
4-187003729-C-G TLR3 c.889C>G p.Leu297Val Missense 4/5 -
4-57843291-C-T NOA1 c.461G>A p.Gly154Glu Missense 1/7 -
4-57843291-C-G NOA1 c.461G>C p.Gly154Ala Missense 1/7 -
11-117160380-T-C BACE1 c.1108A>G p.Met370Val Missense 8/8 -
3-107466840-C-T BBX c.779C>T p.Ala260Val Missense 9/17 -
1-94467548-C-G ABCA4 c.6148G>C p.Val2050Leu Missense 45/50 -
4-110670437-C-G CFI c.1085G>C p.Gly362Ala Missense 10/13 -
6-30671760-C-T MDC1 c.5200G>A p.Ala1734Thr Missense 10/15 -
4-110662179-C-T CFI c.1622G>A p.Trp541* Nonsense 13/13 -
4-110663647-C-T CFI c.1534G>A p.Gly512Ser Missense 12/13 -
9-137591755-C-G COL5A1 c.278C>G p.Ala93Gly Missense 3/66 -
9-137591755-C-T COL5A1 c.278C>T p.Ala93Val Missense 3/66 -
1-186024643-G-T HMCN1 c.6981G>T p.Met2327Ile Missense 45/107 -
4-110681781-C-T CFI c.670G>A p.Asp224Asn Missense 5/13 -
6-32041543-G-A TNXB c.4562C>T p.Ala1521Val Missense 12/44 -
15-90342752-C-G ANPEP c.1858G>C p.Val620Leu Missense 13/21 -
6-132645195-C-T MOXD1 c.988G>A p.Asp330Asn Missense 7/12 -
11-36614521-C-G RAG2 c.1198G>C p.Asp400His Missense 2/2 -
15-42568547-C-A GANC c.31C>A p.Leu11Ile Missense 2/24 -
6-31692395-C-T MPIG6B c.532C>T p.Pro178Ser Missense 4/6 -
9-77684860-C-G NMRK1 c.268G>C p.Glu90Gln Missense 5/9 -
4-157891963-C-G PDGFC c.93G>C p.Gln31His Missense 1/6 -
4-157891963-C-A PDGFC c.93G>T p.Gln31His Missense 1/6 -
1-186113727-G-A HMCN1 c.14158G>A p.Ala4720Thr Missense 91/107 -
4-120419806-G-C PDE5A c.2578C>G p.Gln860Glu Missense 21/21 -
6-30860313-A-T DDR1 c.1093A>T p.Ile365Phe Missense 7/17 -
20-60885127-C-T LAMA5 c.10745G>A p.Arg3582Gln Missense 78/80 -
7-100004394-C-T ZCWPW1 c.1093G>A p.Glu365Lys Missense 12/18 -
20-60885242-C-T LAMA5 c.10726G>A p.Glu3576Lys Missense 77/80 -
15-42731805-T-C ZNF106 c.3901A>G p.Asn1301Asp Missense 8/19 -
12-20522796-T-C PDE3A c.578T>C p.Val193Ala Missense 1/16 -
1-176760568-C-G PAPPA2 c.4970C>G p.Pro1657Arg Missense 19/23 -
1-176760568-C-A PAPPA2 c.4970C>A p.Pro1657His Missense 19/23 -
1-176760568-C-T PAPPA2 c.4970C>T p.Pro1657Leu Missense 19/23 -
3-46306765-C-G CCR3 c.170C>G p.Pro57Arg Missense 3/3 -
4-177650866-C-A VEGFC c.182G>T p.Arg61Leu Missense 2/7 -
4-57797510-A-G REST c.2486A>G p.Glu829Gly Missense 4/4 -
20-60926766-G-A LAMA5 c.950C>T p.Pro317Leu Missense 6/80 -
6-30679963-A-C MDC1 c.1756T>G p.Ser586Ala Missense 5/15 -
9-77684860-C-T NMRK1 c.268G>A p.Glu90Lys Missense 5/9 -
4-69978329-C-T UGT2B7 c.1465C>T p.His489Tyr Missense 6/6 -
5-139930696-C-T SRA1 c.449G>A p.Gly150Glu Missense 4/5 -
7-80300449-T-G CD36 c.975T>G p.Tyr325* Nonsense 10/14 -
16-56977087-G-C HERPUD1 c.1058G>C p.Arg353Thr Missense 8/8 -
8-123964912-G-A ZHX2 c.1162G>A p.Val388Ile Missense 3/4 -
9-133948184-G-A LAMC3 c.3379G>A p.Glu1127Lys Missense 19/28 -
3-46306765-C-T CCR3 c.170C>T p.Pro57Leu Missense 3/3 -
12-57577915-C-T LRP1 c.5977C>T p.Arg1993Trp Missense 37/89 -
17-66902302-G-T ABCA8 c.2161C>A p.Leu721Ile Missense 17/38 -
17-66902302-G-A ABCA8 c.2161C>T p.Leu721Phe Missense 17/38 -
4-110682686-A-G CFI c.645T>C p.Tyr215Tyr Synonymous 4/13 -
6-30514577-G-A GNL1 c.1478C>T p.Ala493Val Missense 11/12 -
4-110667485-T-C CFI c.1322A>G p.Lys441Arg Missense 11/13 -
9-87338515-C-T NTRK2 c.611C>T p.Pro204Leu Missense 9/15 -
12-9004892-C-T A2ML1 c.2550C>T p.Asp850Asp Synonymous 20/36 -
12-9004892-C-A A2ML1 c.2550C>A p.Asp850Glu Missense 20/36 -
7-99818851-G-A PVRIG c.958G>A p.Glu320Lys Missense 6/6 -
7-99818851-G-T PVRIG c.958G>T p.Glu320* Nonsense 6/6 -
6-32032628-C-A TNXB c.6811G>T p.Val2271Leu Missense 19/44 -
3-100963593-T-C IMPG2 c.1582A>G p.Ile528Val Missense 13/19 -
7-150693897-G-C NOS3 c.466G>C p.Glu156Gln Missense 5/27 -
7-150693897-G-A NOS3 c.466G>A p.Glu156Lys Missense 5/27 -
9-101830911-A-G COL15A1 c.3912A>G p.Ile1304Met Missense 41/42 -
16-57394393-T-C CCL22 c.118T>C p.Tyr40His Missense 2/3 -
11-6422240-C-T APBB1 c.1651G>A p.Val551Ile Missense 12/15 -
16-23080653-G-C USP31 c.2773C>G p.Pro925Ala Missense 16/16 -
17-80280213-C-A SECTM1 c.571G>T p.Val191Phe Missense 5/5 -
12-2224449-G-A CACNA1C c.109G>A p.Gly37Arg Missense 2/47 -
6-32052255-T-C TNXB c.3380A>G p.Lys1127Arg Missense 8/44 -
8-19818551-G-A LPL c.1279G>A p.Ala427Thr Missense 8/10 -
16-55518043-G-A MMP2 c.346G>A p.Glu116Lys Missense 3/13 -
1-183177132-G-A LAMC2 c.196G>A p.Glu66Lys Missense 2/23 -
1-249211096-G-A PGBD2 c.1-441G>A - IntronicSNV - 2/2
6-32041661-C-T TNXB c.4444G>A p.Val1482Met Missense 12/44 -
16-66426144-G-T CDH5 c.1075G>T p.Val359Phe Missense 7/12 -
4-110681732-G-C CFI c.719C>G p.Ala240Gly Missense 5/13 -
19-7132173-G-C INSR c.2838C>G p.Asp946Glu Missense 14/22 -
1-22965687-C-T C1QA c.525C>T p.Ile175Ile Synonymous 3/3 -
1-103488522-C-T COL11A1 c.898-1197G>A - IntronicSNV - 6/64
5-124080382-T-A ZNF608 c.301A>T p.Thr101Ser Missense 1/9 -
6-36076169-A-G MAPK14 c.1028A>G p.Asp343Gly Missense 12/12 -
1-176563779-G-A PAPPA2 c.1039G>A p.Val347Met Missense 3/23 -
9-101894904-G-A TGFBR1 c.343+3522G>A - IntronicSNV - 2/7
6-32150356-A-T AGER c.811T>A p.Trp271Arg Missense 7/11 -
1-173873176-C-G SERPINC1 c.1246G>C p.Ala416Pro Missense 7/7 -
17-73728300-G-T ITGB4 c.1434G>T p.Gln478His Missense 12/40 -
6-161006105-C-T LPA c.4262G>A p.Arg1421Gln Missense 26/39 -
2-215813807-T-A ABCA12 c.6919A>T p.Ile2307Phe Missense 46/53 -
4-110667612-A-G CFI c.1195T>C p.Trp399Arg Missense 11/13 -
21-46876226-C-A COL18A1 c.646+136C>A - IntronicSNV - 1/40
2-215813807-T-C ABCA12 c.6919A>G p.Ile2307Val Missense 46/53 -
13-111117923-C-T COL4A2 c.1948C>T p.Pro650Ser Missense 25/48 -
7-100071904-C-G TSC22D4 c.922G>C p.Asp308His Missense 3/5 -
21-46876226-C-T COL18A1 c.646+136C>T - IntronicSNV - 1/40
6-70639408-G-A COL19A1 c.482G>A p.Arg161Gln Missense 6/51 -
2-206588569-C-T NRP2 c.725C>T p.Thr242Met Missense 5/17 -
8-23225708-C-T LOXL2 c.157G>A p.Val53Met Missense 2/14 -
1-31349983-C-G SDC3 c.286G>C p.Ala96Pro Missense 3/5 -
1-31349983-C-T SDC3 c.286G>A p.Ala96Thr Missense 3/5 -
8-23225708-C-A LOXL2 c.157G>T p.Val53Leu Missense 2/14 -
11-6423873-T-C APBB1 c.1187A>G p.Asn396Ser Missense 7/15 -
12-9013783-C-T A2ML1 c.3392C>T p.Thr1131Met Missense 28/36 -
5-41382364-C-G PLCXD3 c.376G>C p.Glu126Gln Missense 2/3 -
4-110687890-G-C CFI c.148C>G p.Pro50Ala Missense 2/13 -
8-135622851-G-C ZFAT c.460C>G p.Arg154Gly Missense 5/17 -
8-135622851-G-A ZFAT c.460C>T p.Arg154Trp Missense 5/17 -
6-31747216-C-T VARS c.3386G>A p.Arg1129Gln Missense 28/30 -
9-135786451-G-T TSC1 c.1079C>A p.Thr360Asn Missense 11/23 -
2-215910574-G-A ABCA12 c.859C>T p.Arg287* Nonsense 7/53 -
6-160969693-T-G LPA c.4974-2A>C - IntronicSNV - 30/38
16-31341424-C-A ITGAM c.2999C>A p.Thr1000Asn Missense 26/30 -
6-169064783-A-G SMOC2 c.1315A>G p.Asn439Asp Missense 12/13 -
22-37904616-G-A CARD10 c.983C>T p.Ala328Val Missense 5/20 -
8-2088749-A-T MYOM2 c.3904A>T p.Thr1302Ser Missense 33/37 -
10-75675086-T-A PLAU c.1048T>A p.Tyr350Asn Missense 10/11 -
8-139164185-T-G FAM135B c.2533A>C p.Ile845Leu Missense 13/20 -
20-60901785-G-A LAMA5 c.5246C>T p.Pro1749Leu Missense 40/80 -
9-139841132-G-T C8G c.586G>T p.Val196Phe Missense 6/7 -
9-139841132-G-A C8G c.586G>A p.Val196Ile Missense 6/7 -
1-218607532-G-C TGFB2 c.619G>C p.Val207Leu Missense 3/7 -
5-76129303-A-T F2RL1 c.871A>T p.Thr291Ser Missense 2/2 -
5-76129303-A-G F2RL1 c.871A>G p.Thr291Ala Missense 2/2 -
2-215815807-C-A ABCA12 c.6648G>T p.Arg2216Ser Missense 45/53 -
15-42734331-C-G ZNF106 c.3634G>C p.Val1212Leu Missense 7/19 -
15-42734331-C-A ZNF106 c.3634G>T p.Val1212Leu Missense 7/19 -
21-47410727-C-T COL6A1 c.1043C>T p.Ser348Leu Missense 14/35 -
7-17378917-A-G AHR c.1468A>G p.Met490Val Missense 10/11 -
7-100071904-C-T TSC22D4 c.922G>A p.Asp308Asn Missense 3/5 -
8-2041820-C-T MYOM2 c.2027C>T p.Thr676Met Missense 17/37 -
16-57394360-G-A CCL22 c.85G>A p.Ala29Thr Missense 2/3 -
16-57394360-G-T CCL22 c.85G>T p.Ala29Ser Missense 2/3 -
17-73738798-C-A ITGB4 c.2918C>A p.Thr973Asn Missense 25/40 -
6-47563608-A-G CD2AP c.1120A>G p.Thr374Ala Missense 12/18 -
4-69796319-T-A UGT2A3 c.1249A>T p.Thr417Ser Missense 5/6 -
9-115216344-G-A HSDL2 c.917G>A p.Arg306His Missense 9/11 -
14-62204808-C-T HIF1A c.1253C>T p.Thr418Ile Missense 10/15 -
4-110685820-C-T CFI c.355G>A p.Gly119Arg Missense 3/13 -
1-186105949-G-A HMCN1 c.13462G>A p.Val4488Met Missense 87/107 -
9-27168571-T-C TEK c.443T>C p.Ile148Thr Missense 3/23 -
6-70639408-G-T COL19A1 c.482G>T p.Arg161Leu Missense 6/51 -
2-189864023-G-A COL3A1 c.2035G>A p.Ala679Thr Missense 30/51 -
13-28897068-T-C FLT1 c.2812A>G p.Met938Val Missense 21/30 -
16-55853498-G-A CES1 c.852C>T p.His284His Synonymous 7/14 -
15-81558093-A-G IL16 c.515A>G p.Asn172Ser Missense 4/19 -
2-69734636-G-A AAK1 c.2081C>T p.Thr694Met Missense 15/22 -
10-75671356-G-T PLAU c.43G>T p.Val15Leu Missense 2/11 -
16-2103368-C-T TSC2 c.251C>T p.Ala84Val Missense 4/42 -
16-81303891-T-C BCO1 c.971T>C p.Ile324Thr Missense 7/11 -
1-94476377-C-T ABCA4 c.5693G>A p.Arg1898His Missense 40/50 -
11-10477939-G-A AMPD3 c.23-5123G>A - IntronicSNV - 1/14
2-227660781-T-C IRS1 c.2674A>G p.Ser892Gly Missense 1/2 -
1-171303836-G-A FMO4 c.1114G>A p.Gly372Ser Missense 8/10 -
1-57409459-C-A C8B c.1144G>T p.Asp382Tyr Missense 8/12 -
4-110682723-G-A CFI c.608C>T p.Thr203Ile Missense 4/13 -
3-52546872-G-T STAB1 c.3056G>T p.Arg1019Leu Missense 29/69 -
11-112085537-G-A BCO2 c.1283G>A p.Gly428Asp Missense 10/12 -
13-95858806-C-T ABCC4 c.1141G>A p.Val381Ile Missense 8/31 -
1-100340787-G-A AGL c.1160G>A p.Arg387Gln Missense 9/34 -
6-31779728-C-T HSPA1L c.22G>A p.Ala8Thr Missense 2/2 -
5-75914369-C-A F2RL2 c.163G>T p.Ala55Ser Missense 2/2 -
5-75914369-C-T F2RL2 c.163G>A p.Ala55Thr Missense 2/2 -
16-24202451-C-A PRKCB c.1763C>A p.Pro588His Missense 16/17 -
15-62261612-T-C VPS13C c.2668A>G p.Thr890Ala Missense 26/83 -
11-10477939-G-T AMPD3 c.23-5123G>T - IntronicSNV - 1/14
20-44533618-C-T PLTP c.845G>A p.Arg282Gln Missense 9/16 -
20-60899224-G-A LAMA5 c.5680C>T p.Arg1894Cys Missense 43/80 -
12-9307415-G-A PZP c.3571C>T p.Arg1191Cys Missense 29/36 -
11-10500134-G-A AMPD3 c.310G>A p.Asp104Asn Missense 3/15 -
3-52546872-G-C STAB1 c.3056G>C p.Arg1019Pro Missense 29/69 -
10-26856265-G-A APBB1IP c.1849G>A p.Ala617Thr Missense 15/15 -
6-76657130-G-A IMPG1 c.1945C>T p.Leu649Phe Missense 14/17 -
20-60895865-C-T LAMA5 c.6578G>A p.Arg2193His Missense 49/80 -
20-60895865-C-G LAMA5 c.6578G>C p.Arg2193Pro Missense 49/80 -
4-110682781-C-T CFI c.550G>A p.Val184Met Missense 4/13 -
7-81392140-G-A HGF c.137C>T p.Ala46Val Missense 2/18 -
20-23030015-C-T THBD c.127G>A p.Ala43Thr Missense 1/1 -
10-50740611-G-A ERCC6 c.400C>T p.Arg134Trp Missense 2/21 -
19-10395796-C-T ICAM1 c.1432C>T p.Arg478Trp Missense 7/7 -
19-10395796-C-G ICAM1 c.1432C>G p.Arg478Gly Missense 7/7 -
10-50740611-G-T ERCC6 c.400C>A p.Arg134Arg Synonymous 2/21 -
10-75672059-G-A PLAU c.172G>A p.Gly58Arg Missense 4/11 -
6-43571679-T-C POLH c.815T>C p.Ile272Thr Missense 7/11 -
3-93619677-C-T PROS1 c.698G>A p.Arg233Lys Missense 7/15 -
20-23065584-C-T CD93 c.1246G>A p.Val416Ile Missense 1/2 -
6-32178570-C-A NOTCH4 c.2824G>T p.Gly942Trp Missense 18/30 -
20-60907761-G-A LAMA5 c.3295C>T p.Leu1099Phe Missense 27/80 -
8-38869207-G-A ADAM9 c.226G>A p.Glu76Lys Missense 3/22 -
8-38869207-G-C ADAM9 c.226G>C p.Glu76Gln Missense 3/22 -
11-112072789-A-G BCO2 c.968A>G p.His323Arg Missense 8/12 -
4-69962882-T-A UGT2B7 c.644T>A p.Ile215Asn Missense 1/6 -
6-43746949-T-C VEGFA c.962+294T>C - IntronicSNV - 5/7
1-15832495-T-G CASP9 c.461A>C p.His154Pro Missense 5/9 -
4-77100837-C-T SCARB2 c.445G>A p.Val149Met Missense 4/12 -
4-55955969-C-T KDR c.3193G>A p.Ala1065Thr Missense 24/30 -
4-120419806-G-A PDE5A c.2578C>T p.Gln860* Nonsense 21/21 -
21-47412687-G-A COL6A1 c.1298G>A p.Arg433Gln Missense 19/35 -
18-50683873-G-T DCC c.1409G>T p.Gly470Val Missense 8/29 -
6-30633261-C-T DHX16 c.916G>A p.Gly306Arg Missense 5/20 -
3-9970088-C-T IL17RC c.932C>T p.Ala311Val Missense 10/18 -
4-110673634-G-T CFI c.930C>A p.Asp310Glu Missense 8/13 -
2-21228339-A-T APOB c.11401T>A p.Ser3801Thr Missense 26/29 -
19-10394455-G-T ICAM1 c.630G>T p.Gln210His Missense 3/7 -
13-95735520-C-A ABCC4 c.2560G>T p.Val854Phe Missense 21/31 -
4-57829669-G-C NOA1 c.2044C>G p.Pro682Ala Missense 7/7 -
4-57829669-G-T NOA1 c.2044C>A p.Pro682Thr Missense 7/7 -
1-103345315-C-T COL11A1 c.4850G>A p.Arg1617His Missense 64/65 -
2-21238367-C-T APOB c.3383G>A p.Arg1128His Missense 22/29 -
17-6913336-C-A ALOX12 c.1703C>A p.Thr568Asn Missense 13/14 -
15-62226423-T-G VPS13C c.5734A>C p.Asn1912His Missense 47/83 -
11-65636053-T-C EFEMP2 c.775A>G p.Ile259Val Missense 8/11 -
7-94953733-T-C PON1 c.55A>G p.Asn19Asp Missense 1/9 -
16-53860253-G-A FTO c.601G>A p.Val201Ile Missense 3/9 -
12-57585281-A-G LRP1 c.7415A>G p.Asn2472Ser Missense 44/89 -
9-120476694-G-A TLR4 c.2288G>A p.Arg763His Missense 3/3 -
7-99764196-G-A GAL3ST4 c.358C>T p.Arg120Cys Missense 3/4 -
7-99764196-G-C GAL3ST4 c.358C>G p.Arg120Gly Missense 3/4 -
1-20302201-C-T PLA2G2A c.428G>A p.Arg143His Missense 6/6 -
21-46311778-C-T ITGB2 c.1358G>A p.Ser453Asn Missense 11/16 -
14-102551163-T-A HSP90AA1 c.836A>T p.Lys279Met Missense 5/11 -
20-23028640-G-A THBD c.1502C>T p.Pro501Leu Missense 1/1 -
10-105797396-C-A COL17A1 c.3206G>T p.Arg1069Leu Missense 46/56 -
10-105797396-C-T COL17A1 c.3206G>A p.Arg1069Gln Missense 46/56 -
10-105797396-C-G COL17A1 c.3206G>C p.Arg1069Pro Missense 46/56 -
1-40773150-G-T COL9A2 c.976C>A p.Gln326Lys Missense 19/32 -
12-57597253-G-T LRP1 c.10900G>T p.Ala3634Ser Missense 70/89 -
1-40773150-G-A COL9A2 c.976C>T p.Gln326* Nonsense 19/32 -
7-75401263-C-T CCL26 c.132G>A p.Trp44* Nonsense 3/4 -
22-33059665-G-C SYN3 c.709-66943C>G - IntronicSNV - 6/13
12-57597253-G-A LRP1 c.10900G>A p.Ala3634Thr Missense 70/89 -
17-66933175-G-A ABCA8 c.383C>T p.Thr128Ile Missense 4/38 -
11-10508903-G-C AMPD3 c.958G>C p.Val320Leu Missense 6/15 -
3-48622995-C-T COL7A1 c.3889G>A p.Glu1297Lys Missense 31/118 -
5-123982685-C-G ZNF608 c.3392G>C p.Ser1131Thr Missense 4/9 -
15-38228620-G-A TMCO5A c.96G>A p.Gln32Gln Synonymous 3/12 -
15-38228620-G-T TMCO5A c.96G>T p.Gln32His Missense 3/12 -
15-89453043-G-A MFGE8 c.185C>T p.Ala62Val Missense 2/8 -
1-186121996-C-T HMCN1 c.15011C>T p.Thr5004Ile Missense 96/107 -
15-89453043-G-C MFGE8 c.185C>G p.Ala62Gly Missense 2/8 -