Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
3-99998531-G-C | TBC1D23 | c.92G>C | p.Cys31Ser | Missense | 2/18 | - |
5-169230145-C-A | DOCK2 | c.2638C>A | p.Leu880Met | Missense | 26/52 | - |
21-46311778-C-T | ITGB2 | c.1358G>A | p.Ser453Asn | Missense | 11/16 | - |
15-42585099-A-G | GANC | c.496A>G | p.Ile166Val | Missense | 5/24 | - |
21-47410727-C-T | COL6A1 | c.1043C>T | p.Ser348Leu | Missense | 14/35 | - |
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 | - |
2-46839434-T-C | PIGF | c.370A>G | p.Thr124Ala | Missense | 4/7 | - |
1-183184663-G-A | LAMC2 | c.344G>A | p.Arg115Gln | Missense | 3/23 | - |
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 | - |
15-58855748-C-T | LIPC | c.1214C>T | p.Thr405Met | Missense | 8/9 | - |
5-39331894-G-A | C9 | c.499C>T | p.Pro167Ser | Missense | 5/11 | - |
22-45923827-A-C | FBLN1 | c.422A>C | p.Gln141Pro | Missense | 4/17 | - |
22-45923827-A-G | FBLN1 | c.422A>G | p.Gln141Arg | Missense | 4/17 | - |
22-45923827-A-T | FBLN1 | c.422A>T | p.Gln141Leu | Missense | 4/17 | - |
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 | - |
1-57395228-G-A | C8B | c.1625C>T | p.Thr542Ile | Missense | 12/12 | - |
2-215891583-C-G | ABCA12 | c.1141G>C | p.Val381Leu | Missense | 10/53 | - |
22-39621819-G-C | PDGFB | c.635C>G | p.Thr212Arg | Missense | 6/7 | - |
5-174869045-G-C | DRD1 | c.1058C>G | p.Ala353Gly | 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 | - |
21-47544599-G-A | COL6A2 | c.1706G>A | p.Arg569Gln | Missense | 22/28 | - |
13-31819325-T-C | B3GLCT | c.271-1835T>C | - | IntronicSNV | - | 4/14 |
22-45958823-C-T | FBLN1 | c.1698-11568C>T | - | IntronicSNV | - | 14/16 |
6-76728524-C-T | IMPG1 | c.718G>A | p.Val240Ile | Missense | 7/17 | - |
2-188348943-G-A | TFPI | c.536C>T | p.Pro179Leu | Missense | 6/8 | - |
6-76751738-C-T | IMPG1 | c.173G>A | p.Arg58Lys | Missense | 2/17 | - |
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 | - |
20-52773992-C-A | CYP24A1 | c.1369G>T | p.Val457Phe | Missense | 10/12 | - |
1-159683814-G-A | CRP | c.176C>T | p.Thr59Met | Missense | 2/2 | - |
20-61450599-C-G | COL9A3 | c.209C>G | p.Pro70Arg | Missense | 4/32 | - |
1-207643432-C-G | CR2 | c.1210C>G | p.Pro404Ala | Missense | 6/19 | - |
20-61467564-C-G | COL9A3 | c.1427C>G | p.Pro476Arg | Missense | 28/32 | - |
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 | - |
1-197297965-G-A | CRB1 | c.484G>A | p.Val162Met | Missense | 2/12 | - |
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 | - |
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 | - |
22-45919038-G-A | FBLN1 | c.186-2385G>A | - | IntronicSNV | - | 2/16 |
20-61450599-C-T | COL9A3 | c.209C>T | p.Pro70Leu | Missense | 4/32 | - |
19-1050996-G-A | ABCA7 | c.2629G>A | p.Ala877Thr | Missense | 19/47 | - |
3-171404481-G-T | PLD1 | c.1861C>A | p.His621Asn | Missense | 16/27 | - |
9-101912471-A-G | TGFBR1 | c.*884A>G | - | 3-UTRSNV | 8/8 | - |
17-66878099-C-G | ABCA8 | c.3731G>C | p.Cys1244Ser | Missense | 29/38 | - |
2-228110691-C-A | COL4A3 | c.346C>A | p.Pro116Thr | Missense | 6/52 | - |
2-21232044-C-T | APOB | c.7696G>A | p.Glu2566Lys | Missense | 26/29 | - |
1-183091040-G-A | LAMC1 | c.2173G>A | p.Ala725Thr | Missense | 12/28 | - |
5-156991445-G-A | ADAM19 | c.187C>T | p.Leu63Phe | Missense | 3/23 | - |
6-7231523-C-T | RREB1 | c.3191C>T | p.Pro1064Leu | Missense | 10/12 | - |
21-47546080-G-C | COL6A2 | c.2351G>C | p.Arg784Pro | Missense | 26/28 | - |
7-99786108-T-C | STAG3 | c.466T>C | p.Ser156Pro | Missense | 6/34 | - |
21-47546080-G-A | COL6A2 | c.2351G>A | p.Arg784His | Missense | 26/28 | - |
7-99654862-T-G | ZSCAN21 | c.233T>G | p.Ile78Ser | Missense | 2/4 | - |
15-63421686-A-T | LACTB | c.955A>T | p.Ser319Cys | Missense | 5/6 | - |
19-51742917-G-T | CD33 | c.1069G>T | p.Glu357* | Nonsense | 7/7 | - |
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 | - |
1-196711067-G-C | CFH | c.3019G>C | p.Val1007Leu | Missense | 19/22 | - |
9-133942515-C-T | LAMC3 | c.2516C>T | p.Thr839Met | Missense | 14/28 | - |
6-32150063-C-G | AGER | c.925G>C | p.Gly309Arg | Missense | 8/11 | - |
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 | - |
7-99764240-A-G | GAL3ST4 | c.314T>C | p.Phe105Ser | Missense | 3/4 | - |
1-161479663-A-G | FCGR2A | c.415A>G | p.Met139Val | Missense | 4/7 | - |
20-56735870-G-A | C20orf85 | c.406G>A | p.Val136Met | Missense | 4/4 | - |
1-196683002-A-C | CFH | c.1474A>C | p.Ile492Leu | Missense | 10/22 | - |
6-42666136-G-A | PRPH2 | c.938C>T | p.Pro313Leu | Missense | 3/3 | - |
1-183212412-G-A | LAMC2 | c.3459G>A | p.Arg1153Arg | Synonymous | 23/23 | - |
3-52551981-G-A | STAB1 | c.4723G>A | p.Val1575Met | Missense | 45/69 | - |
19-1051944-G-A | ABCA7 | c.2966G>A | p.Arg989His | Missense | 22/47 | - |
22-31533855-G-T | PLA2G3 | c.907C>A | p.Arg303Arg | Synonymous | 4/7 | - |
18-334837-G-A | COLEC12 | c.1721C>T | p.Pro574Leu | Missense | 6/10 | - |
22-39621784-G-C | PDGFB | c.670C>G | p.Arg224Gly | Missense | 6/7 | - |
1-233122172-G-A | PCNX2 | c.5906C>T | p.Thr1969Met | Missense | 33/34 | - |
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 | - |
9-101816909-A-G | COL15A1 | c.3002A>G | p.Lys1001Arg | Missense | 32/42 | - |
22-31533855-G-A | PLA2G3 | c.907C>T | p.Arg303* | Nonsense | 4/7 | - |
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 | - |
9-101912471-A-T | TGFBR1 | c.*884A>T | - | 3-UTRSNV | 8/8 | - |
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 | - |
17-6901889-A-C | ALOX12 | c.399A>C | p.Lys133Asn | Missense | 3/14 | - |
22-42525134-C-T | CYP2D6 | c.406G>A | p.Val136Ile | Missense | 3/9 | - |
1-185934999-G-A | HMCN1 | c.2164G>A | p.Glu722Lys | Missense | 14/107 | - |
15-39874396-T-G | THBS1 | c.70T>G | p.Ser24Ala | Missense | 3/22 | - |
15-42702858-G-A | CAPN3 | c.2257G>A | p.Asp753Asn | Missense | 21/24 | - |
17-21208417-G-A | MAP2K3 | c.751G>A | p.Val251Ile | Missense | 9/12 | - |
17-48267454-G-C | COL1A1 | c.2467C>G | p.Pro823Ala | Missense | 36/51 | - |
6-32063460-G-A | TNXB | c.2170C>T | p.Arg724Cys | Missense | 3/44 | - |
3-99481539-G-T | COL8A1 | c.-4+17674G>T | - | intron_variant | - | 3/4 |
17-48267454-G-T | COL1A1 | c.2467C>A | p.Pro823Thr | Missense | 36/51 | - |
6-30675997-C-T | MDC1 | c.2359G>A | p.Gly787Arg | Missense | 8/15 | - |
16-81298254-C-T | BCO1 | c.481C>T | p.Arg161Cys | Missense | 5/11 | - |
6-32006867-G-A | CYP21A2 | c.293-4G>A | - | IntronicSNV | - | 2/9 |
4-110667408-A-G | CFI | c.1399T>C | p.Cys467Arg | Missense | 11/13 | - |
18-74696703-C-T | MBP | c.549+28G>A | - | IntronicSNV | - | 6/6 |
2-21232125-C-T | APOB | c.7615G>A | p.Val2539Ile | Missense | 26/29 | - |
17-48263206-T-C | COL1A1 | c.4181A>G | p.Asn1394Ser | Missense | 50/51 | - |
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 | - |
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 | - |
2-228110691-C-T | COL4A3 | c.346C>T | p.Pro116Ser | Missense | 6/52 | - |
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 | - |
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 | - |
6-31736835-C-T | VWA7 | c.1463G>A | p.Arg488Gln | Missense | 10/17 | - |
5-41158777-C-T | C6 | c.1967G>A | p.Arg656Gln | Missense | 13/18 | - |
6-43582176-C-A | POLH | c.2024C>A | p.Ser675Tyr | Missense | 11/11 | - |
3-48627789-C-A | COL7A1 | c.1907G>T | p.Gly636Val | Missense | 15/118 | - |
5-156915323-G-C | ADAM19 | c.2500C>G | p.Pro834Ala | Missense | 21/23 | - |
20-60885119-C-A | LAMA5 | c.10753G>T | p.Asp3585Tyr | Missense | 78/80 | - |
10-105794406-G-A | COL17A1 | c.3739C>T | p.Arg1247Trp | Missense | 51/56 | - |
1-173884010-A-T | SERPINC1 | c.89T>A | p.Val30Glu | Missense | 2/7 | - |
2-237490000-C-T | ACKR3 | c.892C>T | p.His298Tyr | Missense | 2/2 | - |
6-70873265-C-G | COL19A1 | c.2377C>G | p.Pro793Ala | Missense | 36/51 | - |
19-5844804-C-G | FUT3 | c.47G>C | p.Cys16Ser | Missense | 3/3 | - |
11-34482910-G-A | CAT | c.1169G>A | p.Gly390Asp | Missense | 9/13 | - |
4-110667600-C-T | CFI | c.1207G>A | p.Asp403Asn | Missense | 11/13 | - |
4-57797230-C-T | REST | c.2206C>T | p.Pro736Ser | Missense | 4/4 | - |
2-215882771-G-C | ABCA12 | c.1743C>G | p.Asp581Glu | Missense | 14/53 | - |
15-39874909-G-A | THBS1 | c.583G>A | p.Ala195Thr | Missense | 3/22 | - |
5-35065328-C-T | PRLR | c.1732G>A | p.Glu578Lys | Missense | 10/10 | - |
1-186141181-C-G | HMCN1 | c.15732C>G | p.His5244Gln | Missense | 102/107 | - |
1-94517254-C-G | ABCA4 | c.2588G>C | p.Gly863Ala | Missense | 17/50 | - |
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 | - |
8-2063891-G-C | MYOM2 | c.3320G>C | p.Gly1107Ala | Missense | 26/37 | - |
1-186141181-C-A | HMCN1 | c.15732C>A | p.His5244Gln | Missense | 102/107 | - |
7-99971735-A-G | PILRA | c.133A>G | p.Met45Val | Missense | 2/7 | - |
11-85707896-C-G | PICALM | c.1231G>C | p.Ala411Pro | Missense | 12/20 | - |
4-57797037-G-T | REST | c.2013G>T | p.Glu671Asp | Missense | 4/4 | - |
4-57797037-G-A | REST | c.2013G>A | p.Glu671Glu | Synonymous | 4/4 | - |
7-17379805-A-G | AHR | c.2356A>G | p.Met786Val | Missense | 10/11 | - |
7-17379796-G-A | AHR | c.2347G>A | p.Val783Met | Missense | 10/11 | - |
10-81318680-C-T | SFTPA2 | c.254G>A | p.Arg85His | Missense | 4/6 | - |
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 | - |
16-23079836-C-T | USP31 | c.3590G>A | p.Arg1197Gln | Missense | 16/16 | - |
9-136319670-C-T | ADAMTS13 | c.3178C>T | p.Arg1060Trp | Missense | 24/29 | - |
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 | - |
19-6734232-G-A | GPR108 | c.461C>T | p.Pro154Leu | Missense | 5/18 | - |
19-6734232-G-C | GPR108 | c.461C>G | p.Pro154Arg | Missense | 5/18 | - |
8-8999019-C-T | PPP1R3B | c.143G>A | p.Gly48Glu | Missense | 2/2 | - |
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 | - |
20-60884852-G-A | LAMA5 | c.10868C>T | p.Ala3623Val | Missense | 79/80 | - |
6-32149140-C-T | AGER | c.1106G>A | p.Arg369Gln | Missense | 10/11 | - |
21-47552201-C-G | COL6A2 | c.2795C>G | p.Pro932Arg | Missense | 28/28 | - |
4-110681527-C-G | CFI | c.782G>C | p.Gly261Ala | Missense | 6/13 | - |
4-110667378-C-G | CFI | c.1429G>C | p.Asp477His | Missense | 11/13 | - |
1-155026438-C-T | ADAM15 | c.316C>T | p.Arg106Trp | Missense | 4/21 | - |
4-110663677-G-A | CFI | c.1504C>T | p.Arg502Cys | Missense | 12/13 | - |
3-93598150-A-G | PROS1 | c.1501T>C | p.Ser501Pro | Missense | 13/15 | - |
6-31918154-A-G | CFB | c.1598A>G | p.Lys533Arg | Missense | 12/18 | - |
4-120419806-G-C | PDE5A | c.2578C>G | p.Gln860Glu | Missense | 21/21 | - |
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 | - |
13-31897910-G-A | B3GLCT | c.1207G>A | p.Val403Ile | Missense | 14/15 | - |
6-31931747-G-C | SKIV2L | c.1705G>C | p.Val569Leu | Missense | 16/28 | - |
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 | - |
7-94940880-A-C | PON1 | c.380T>G | p.Met127Arg | Missense | 5/9 | - |
6-32041661-C-T | TNXB | c.4444G>A | p.Val1482Met | Missense | 12/44 | - |
4-184932032-G-A | STOX2 | c.2041G>A | p.Val681Ile | Missense | 3/4 | - |
1-31349983-C-T | SDC3 | c.286G>A | p.Ala96Thr | Missense | 3/5 | - |
5-41382364-C-T | PLCXD3 | c.376G>A | p.Glu126Lys | Missense | 2/3 | - |
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 | - |
15-81558093-A-G | IL16 | c.515A>G | p.Asn172Ser | Missense | 4/19 | - |
10-98802722-G-T | SLIT1 | c.2100C>A | p.Asn700Lys | Missense | 20/37 | - |
6-160969693-T-C | LPA | c.4974-2A>G | - | IntronicSNV | - | 30/38 |
22-31532702-A-C | PLA2G3 | c.1283T>G | p.Leu428Arg | Missense | 6/7 | - |
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 | - |
9-120476694-G-T | TLR4 | c.2288G>T | p.Arg763Leu | Missense | 3/3 | - |
3-52551973-C-T | STAB1 | c.4715C>T | p.Ala1572Val | Missense | 45/69 | - |
13-95735520-C-A | ABCC4 | c.2560G>T | p.Val854Phe | Missense | 21/31 | - |
13-47303075-C-A | LRCH1 | c.1858C>A | p.Arg620Ser | Missense | 17/19 | - |
19-10395877-C-T | ICAM1 | c.1513C>T | p.Arg505Cys | Missense | 7/7 | - |
19-5844406-G-T | FUT3 | c.445C>A | p.Leu149Met | Missense | 3/3 | - |
9-21077313-G-T | IFNB1 | c.556C>A | p.Arg186Arg | Synonymous | 1/1 | - |
16-56995935-C-G | CETP | c.44C>G | p.Ala15Gly | Missense | 1/16 | - |
20-60900388-C-G | LAMA5 | c.5513G>C | p.Arg1838Pro | Missense | 41/80 | - |
15-62207854-T-C | VPS13C | c.8294A>G | p.Lys2765Arg | Missense | 59/83 | - |
5-40936541-T-C | C7 | c.382T>C | p.Cys128Arg | Missense | 5/18 | - |
7-100085880-C-T | NYAP1 | c.536C>T | p.Ser179Phe | Missense | 4/7 | - |
20-60900388-C-T | LAMA5 | c.5513G>A | p.Arg1838Gln | Missense | 41/80 | - |
1-233122172-G-C | PCNX2 | c.5906C>G | p.Thr1969Arg | Missense | 33/34 | - |
2-165557069-T-C | COBLL1 | c.1540A>G | p.Met514Val | Missense | 10/14 | - |
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 | - |
6-116559406-T-G | NT5DC1 | c.978T>G | p.Ser326Arg | Missense | 10/12 | - |
3-171452701-C-T | PLD1 | c.494G>A | p.Arg165His | Missense | 5/27 | - |
5-169509815-G-T | DOCK2 | c.5446G>T | p.Ala1816Ser | Missense | 52/52 | - |
15-62212298-C-A | VPS13C | c.7316G>T | p.Arg2439Leu | Missense | 55/83 | - |
18-50683873-G-A | DCC | c.1409G>A | p.Gly470Asp | Missense | 8/29 | - |
1-183209311-C-T | LAMC2 | c.3206C>T | p.Thr1069Met | Missense | 21/23 | - |
22-42525089-G-A | CYP2D6 | c.451C>T | p.Gln151* | Nonsense | 3/9 | - |
4-72622601-T-C | GC | c.862A>G | p.Asn288Asp | Missense | 8/13 | - |
4-110670400-C-G | CFI | c.1122G>C | p.Trp374Cys | Missense | 10/13 | - |
20-56735870-G-T | C20orf85 | c.406G>T | p.Val136Leu | Missense | 4/4 | - |
15-66821230-A-C | ZWILCH | c.1010A>C | p.Lys337Thr | Missense | 11/19 | - |
15-66821230-A-G | ZWILCH | c.1010A>G | p.Lys337Arg | Missense | 11/19 | - |
15-62207911-A-T | VPS13C | c.8237T>A | p.Ile2746Asn | Missense | 59/83 | - |
15-62207911-A-G | VPS13C | c.8237T>C | p.Ile2746Thr | Missense | 59/83 | - |
10-45941076-A-C | ALOX5 | c.1966A>C | p.Lys656Gln | Missense | 14/14 | - |
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 | - |
8-2054077-A-G | MYOM2 | c.2780A>G | p.Tyr927Cys | Missense | 22/37 | - |
7-2752330-C-T | AMZ1 | c.1315C>T | p.Arg439Cys | Missense | 7/7 | - |
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 | - |
3-49568543-C-G | DAG1 | c.599C>G | p.Thr200Ser | Missense | 6/6 | - |
2-69732797-G-T | AAK1 | c.2173C>A | p.Pro725Thr | Missense | 16/22 | - |
3-49548226-A-G | DAG1 | c.259A>G | p.Ile87Val | Missense | 5/6 | - |
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 | - |
10-81371595-C-T | SFTPA1 | c.14C>T | p.Pro5Leu | Missense | 3/6 | - |
1-232650941-T-C | SIPA1L2 | c.145A>G | p.Thr49Ala | Missense | 1/21 | - |
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 | - |
1-183197677-C-T | LAMC2 | c.1637C>T | p.Ala546Val | Missense | 11/23 | - |
2-21224843-G-A | APOB | c.13451C>T | p.Thr4484Met | Missense | 29/29 | - |
2-21224843-G-T | APOB | c.13451C>A | p.Thr4484Lys | 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 | - |
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 | - |
6-31939416-T-C | DXO | c.37A>G | p.Thr13Ala | Missense | 2/7 | - |
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 | - |
12-57587715-G-A | LRP1 | c.7838G>A | p.Arg2613Gln | Missense | 48/89 | - |
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 | - |
1-183190055-C-A | LAMC2 | c.599C>A | p.Ala200Glu | Missense | 5/23 | - |
7-99691871-C-G | MCM7 | c.1245G>C | p.Glu415Asp | Missense | 12/14 | - |
8-2005591-C-G | MYOM2 | c.389C>G | p.Ala130Gly | Missense | 4/37 | - |
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 | - |
4-110670680-A-G | CFI | c.1019T>C | p.Ile340Thr | Missense | 9/13 | - |
9-137779251-G-A | FCN2 | c.932G>A | p.Arg311Gln | Missense | 8/8 | - |
17-76399916-A-C | PGS1 | c.1148A>C | p.Tyr383Ser | Missense | 7/10 | - |
16-23160057-C-T | USP31 | c.535G>A | p.Gly179Ser | Missense | 1/16 | - |
9-107578618-C-T | ABCA1 | c.3544G>A | p.Ala1182Thr | Missense | 25/50 | - |
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 | - |
2-165551669-A-G | COBLL1 | c.2347T>C | p.Ser783Pro | Missense | 12/14 | - |
12-8212221-A-C | C3AR1 | c.561T>G | p.Phe187Leu | Missense | 2/2 | - |
1-171301882-T-A | FMO4 | c.662T>A | p.Leu221His | Missense | 7/10 | - |
7-99808703-C-T | STAG3 | c.3308C>T | p.Pro1103Leu | Missense | 30/34 | - |
3-52547252-A-G | STAB1 | c.3265A>G | p.Ser1089Gly | Missense | 30/69 | - |
6-161010615-T-C | LPA | c.3917A>G | p.His1306Arg | Missense | 24/39 | - |
9-27172662-C-T | TEK | c.677C>T | p.Ala226Val | Missense | 5/23 | - |
15-42643546-C-T | GANC | c.2551C>T | p.His851Tyr | 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 | - |
1-94497563-C-T | ABCA4 | c.3899G>A | p.Arg1300Gln | Missense | 27/50 | - |
15-66807942-G-A | ZWILCH | c.280G>A | p.Glu94Lys | Missense | 4/19 | - |
7-100074938-G-T | TSC22D4 | c.724C>A | p.Leu242Met | Missense | 2/5 | - |
4-77100837-C-T | SCARB2 | c.445G>A | p.Val149Met | Missense | 4/12 | - |
2-56145110-G-T | EFEMP1 | c.207C>A | p.Leu69Leu | Synonymous | 5/12 | - |
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 | - |
3-171417570-G-A | PLD1 | c.1192C>T | p.Arg398Cys | Missense | 12/27 | - |
3-133496032-G-A | TF | c.2012G>A | p.Gly671Glu | Missense | 16/17 | - |
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 | - |
22-31533855-G-C | PLA2G3 | c.907C>G | p.Arg303Gly | Missense | 4/7 | - |
2-215876783-T-C | ABCA12 | c.2033A>G | p.Asn678Ser | Missense | 16/53 | - |
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 | - |
1-40766942-G-A | COL9A2 | c.1982C>T | p.Pro661Leu | Missense | 32/32 | - |
1-40766942-G-C | COL9A2 | c.1982C>G | p.Pro661Arg | Missense | 32/32 | - |
4-128608927-G-A | INTU | c.1354G>A | p.Ala452Thr | Missense | 8/16 | - |
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 | - |
6-161152819-C-A | PLG | c.1481C>A | p.Ala494Glu | Missense | 12/19 | - |
16-17202757-C-T | XYLT1 | c.2675G>A | p.Arg892Gln | Missense | 12/12 | - |
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 | - |
8-6372298-G-A | ANGPT2 | c.932C>T | p.Ala311Val | Missense | 6/9 | - |
6-31736835-C-A | VWA7 | c.1463G>T | p.Arg488Leu | Missense | 10/17 | - |
6-31736835-C-G | VWA7 | c.1463G>C | p.Arg488Pro | Missense | 10/17 | - |
5-156915323-G-A | ADAM19 | c.2500C>T | p.Pro834Ser | Missense | 21/23 | - |
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 | - |
6-32188010-T-C | NOTCH4 | c.1211A>G | p.Asp404Gly | Missense | 7/30 | - |
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 | - |
9-130578230-G-A | ENG | c.1844C>T | p.Ser615Leu | Missense | 14/14 | - |
1-186934559-G-A | PLA2G4A | c.1598G>A | p.Arg533Gln | Missense | 15/18 | - |
16-57394457-C-T | CCL22 | c.182C>T | p.Pro61Leu | Missense | 2/3 | - |
9-139840122-G-C | C8G | c.175G>C | p.Ala59Pro | Missense | 2/7 | - |
9-139840122-G-A | C8G | c.175G>A | p.Ala59Thr | Missense | 2/7 | - |
20-60902366-G-A | LAMA5 | c.5035C>T | p.Arg1679Trp | Missense | 38/80 | - |
1-182571142-G-C | RGS16 | c.346C>G | p.Gln116Glu | Missense | 4/5 | - |
3-48628920-C-T | COL7A1 | c.1613G>A | p.Arg538His | Missense | 12/118 | - |
20-60892813-G-A | LAMA5 | c.7261C>T | p.Arg2421Trp | Missense | 54/80 | - |
5-156918697-G-C | ADAM19 | c.2021C>G | p.Pro674Arg | Missense | 18/23 | - |
4-187004500-C-T | TLR3 | c.1660C>T | p.Pro554Ser | Missense | 4/5 | - |
9-123751971-G-A | C5 | c.3029C>T | p.Ala1010Val | Missense | 24/41 | - |
15-62270845-T-C | VPS13C | c.2141A>G | p.Gln714Arg | Missense | 21/83 | - |
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 | - |
21-47545899-C-A | COL6A2 | c.2170C>A | p.Arg724Ser | Missense | 26/28 | - |
11-68177472-A-T | LRP5 | c.2182A>T | p.Met728Leu | Missense | 10/23 | - |
9-72071342-T-C | APBA1 | c.1609A>G | p.Met537Val | Missense | 8/13 | - |
1-176679311-T-C | PAPPA2 | c.3650T>C | p.Leu1217Pro | Missense | 11/23 | - |
22-38478666-C-G | SLC16A8 | c.214+1G>C | - | IntronicSNV | - | 2/4 |
22-38478666-C-T | SLC16A8 | c.214+1G>A | - | 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 | - |
15-42438355-G-A | PLA2G4F | c.1504C>T | p.Arg502Cys | Missense | 14/20 | - |
9-107582258-T-A | ABCA1 | c.3053A>T | p.Asp1018Val | Missense | 21/50 | - |
17-4542794-C-G | ALOX15 | c.268G>C | p.Asp90His | Missense | 2/14 | - |
1-207782856-A-G | CR1 | c.4768A>G | p.Lys1590Glu | Missense | 29/39 | - |
4-69962375-T-C | UGT2B7 | c.137T>C | p.Leu46Pro | Missense | 1/6 | - |
20-44640275-G-A | MMP9 | c.886G>A | p.Gly296Ser | Missense | 6/13 | - |
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 | - |
6-116325108-G-A | FRK | c.398C>T | p.Ser133Leu | Missense | 2/8 | - |
16-81298282-C-A | BCO1 | c.509C>A | p.Thr170Lys | Missense | 5/11 | - |
9-130578230-G-C | ENG | c.1844C>G | p.Ser615Trp | Missense | 14/14 | - |
6-32064161-C-T | TNXB | c.1469G>A | p.Arg490Gln | Missense | 3/44 | - |
12-2797746-G-A | CACNA1C | c.5918G>A | p.Arg1973Gln | Missense | 46/47 | - |
2-206592624-C-A | NRP2 | c.1000C>A | p.Arg334Ser | Missense | 7/17 | - |
2-228012183-A-G | COL4A4 | c.17T>C | p.Ile6Thr | Missense | 2/48 | - |
19-13051130-G-C | CALR | c.566G>C | p.Ser189Thr | Missense | 5/9 | - |
1-183187613-C-T | LAMC2 | c.493C>T | p.Arg165Cys | Missense | 4/23 | - |
22-31536074-A-T | PLA2G3 | c.267T>A | p.His89Gln | Missense | 1/7 | - |
6-32185028-C-T | NOTCH4 | c.1640G>A | p.Arg547Gln | Missense | 10/30 | - |
7-150698352-G-T | NOS3 | c.1267G>T | p.Ala423Ser | Missense | 11/27 | - |
7-99702875-G-C | AP4M1 | c.740G>C | p.Gly247Ala | Missense | 10/15 | - |
2-21225354-T-C | APOB | c.12940A>G | p.Ile4314Val | Missense | 29/29 | - |
18-34901833-C-G | CELF4 | c.381G>C | p.Pro127Pro | Synonymous | 3/13 | - |
19-31768945-G-A | TSHZ3 | c.1754C>T | p.Pro585Leu | Missense | 2/2 | - |
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 | - |
16-2103392-A-T | TSC2 | c.275A>T | p.Glu92Val | Missense | 4/42 | - |
5-156923974-C-T | ADAM19 | c.1522G>A | p.Gly508Ser | Missense | 14/23 | - |
7-22771039-T-A | IL6 | c.486T>A | p.Asp162Glu | Missense | 5/5 | - |
22-31536074-A-G | PLA2G3 | c.267T>C | p.His89His | Synonymous | 1/7 | - |
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 | - |
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 | - |
22-33257322-T-C | TIMP3 | c.*1958T>C | - | 3-UTRSNV | 5/5 | - |
4-110667431-T-G | CFI | c.1376A>C | p.Tyr459Ser | Missense | 11/13 | - |
7-22771039-T-C | IL6 | c.486T>C | p.Asp162Asp | Synonymous | 5/5 | - |
1-94528818-C-T | ABCA4 | c.1610G>A | p.Arg537His | Missense | 12/50 | - |
1-230386238-A-C | GALNT2 | c.941A>C | p.Asp314Ala | Missense | 10/16 | - |
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 | - |
9-107589246-T-G | ABCA1 | c.2320A>C | p.Thr774Pro | Missense | 16/50 | - |
17-61568577-C-T | ACE | c.2747C>T | p.Thr916Met | Missense | 19/25 | - |
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 | - |
1-186151390-A-G | HMCN1 | c.16385A>G | p.Gln5462Arg | Missense | 105/107 | - |
1-155106446-G-C | EFNA1 | c.521G>C | p.Arg174Pro | Missense | 5/5 | - |
1-155106446-G-A | EFNA1 | c.521G>A | p.Arg174Gln | Missense | 5/5 | - |
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 | - |
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 | - |
16-23080375-C-T | USP31 | c.3051G>A | p.Lys1017Lys | Synonymous | 16/16 | - |
6-30529622-G-A | PRR3 | c.181G>A | p.Gly61Ser | Missense | 3/4 | - |
21-47421960-T-C | COL6A1 | c.2042T>C | p.Ile681Thr | Missense | 31/35 | - |
1-183196682-A-G | LAMC2 | c.1318A>G | p.Ile440Val | Missense | 10/23 | - |
21-46308800-C-T | ITGB2 | c.1888G>A | p.Glu630Lys | Missense | 14/16 | - |
17-4535299-G-A | ALOX15 | c.1694C>T | p.Pro565Leu | Missense | 13/14 | - |
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 | - |
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 | - |
1-120459122-C-T | NOTCH2 | c.6223G>A | p.Val2075Met | Missense | 34/34 | - |
5-169111345-C-T | DOCK2 | c.752C>T | p.Thr251Met | Missense | 8/52 | - |
1-183192390-G-A | LAMC2 | c.884G>A | p.Arg295Gln | Missense | 7/23 | - |
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 | - |
12-48272845-G-A | VDR | c.52C>T | p.Arg18Trp | Missense | 3/10 | - |
17-80320049-G-T | TEX19 | c.23G>T | p.Arg8Leu | 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 | - |
3-9970063-G-A | IL17RC | c.907G>A | p.Ala303Thr | Missense | 10/18 | - |
1-27700455-C-T | FCN3 | c.232+1G>A | - | IntronicSNV | - | 3/7 |
5-124036907-G-A | ZNF608 | c.962C>T | p.Thr321Met | Missense | 2/9 | - |
13-47275283-G-A | LRCH1 | c.1341G>A | p.Met447Ile | Missense | 11/19 | - |
2-215910612-T-C | ABCA12 | c.821A>G | p.Gln274Arg | Missense | 7/53 | - |
19-6678030-T-G | C3 | c.4855A>C | p.Ser1619Arg | Missense | 41/41 | - |
22-29621173-G-A | EMID1 | c.371G>A | p.Arg124Gln | Missense | 4/15 | - |
17-74383648-C-G | SPHK1 | c.1178C>G | p.Pro393Arg | Missense | 6/6 | - |
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 | - |
10-50732202-T-G | ERCC6 | c.1274A>C | p.Asp425Ala | Missense | 5/21 | - |
12-7242740-C-G | C1R | c.336G>C | - | missense_variant | 3/9 | - |
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 | - |
1-161487823-A-C | FCGR2A | c.836A>C | p.Asp279Ala | Missense | 7/7 | - |
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 | - |
6-169053866-G-A | SMOC2 | c.1243G>A | p.Val415Met | Missense | 11/13 | - |
6-161162369-T-A | PLG | c.2045T>A | p.Ile682Asn | Missense | 17/19 | - |
12-20769270-G-A | PDE3A | c.1376G>A | p.Arg459Gln | Missense | 4/16 | - |
7-2752065-G-A | AMZ1 | c.1050G>A | p.Ser350Ser | Synonymous | 7/7 | - |
3-48622995-C-T | COL7A1 | c.3889G>A | p.Glu1297Lys | Missense | 31/118 | - |
9-15211342-T-C | TTC39B | c.536A>G | p.Gln179Arg | Missense | 5/20 | - |
4-55984959-C-G | KDR | c.170G>C | p.Arg57Thr | Missense | 3/30 | - |
4-55984959-C-T | KDR | c.170G>A | p.Arg57Lys | Missense | 3/30 | - |
16-81298301-T-C | BCO1 | c.528T>C | p.Asp176Asp | Synonymous | 5/11 | - |
5-41150035-A-T | C6 | c.2381+2T>A | - | IntronicSNV | - | 16/17 |
5-41150035-A-G | C6 | c.2381+2T>C | - | IntronicSNV | - | 16/17 |
12-7173893-G-A | C1S | c.943G>A | p.Asp315Asn | Missense | 8/12 | - |
1-186052024-G-A | HMCN1 | c.8815G>A | p.Gly2939Ser | Missense | 57/107 | - |
2-69746142-C-G | AAK1 | c.1441G>C | p.Ala481Pro | Missense | 12/22 | - |
3-107517460-C-T | BBX | c.2354C>T | p.Thr785Met | Missense | 15/17 | - |
10-105792717-G-A | COL17A1 | c.4304C>T | p.Ala1435Val | Missense | 54/56 | - |
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 | - |
1-186014876-G-A | HMCN1 | c.6361G>A | p.Val2121Met | Missense | 41/107 | - |
1-226026377-C-T | EPHX1 | c.387C>T | p.His129His | Synonymous | 4/9 | - |
1-11105542-C-T | MASP2 | c.467G>A | p.Cys156Tyr | Missense | 4/11 | - |
19-31770506-C-A | TSHZ3 | c.193G>T | p.Ala65Ser | Missense | 2/2 | - |
19-31770506-C-T | TSHZ3 | c.193G>A | p.Ala65Thr | Missense | 2/2 | - |
20-44639599-C-G | MMP9 | c.559C>G | p.Leu187Val | Missense | 4/13 | - |
7-2752383-C-T | AMZ1 | c.1368C>T | p.Ser456Ser | Synonymous | 7/7 | - |
1-196928188-A-G | CFHR2 | c.791A>G | p.Tyr264Cys | Missense | 5/5 | - |
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 | - |
11-10508903-G-A | AMPD3 | c.958G>A | p.Val320Met | 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 | - |
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 | - |
1-22964120-C-G | C1QA | c.11C>G | p.Pro4Arg | Missense | 2/3 | - |
1-207641950-C-T | CR2 | c.524C>T | p.Pro175Leu | Missense | 3/19 | - |
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 | - |
4-110687712-T-G | CFI | c.326A>C | p.Glu109Ala | Missense | 2/13 | - |
7-99474007-T-C | OR2AE1 | c.650A>G | p.Tyr217Cys | Missense | 1/1 | - |
17-37243923-G-A | PLXDC1 | c.844C>T | p.Arg282Cys | Missense | 8/14 | - |
15-66853414-G-A | LCTL | c.635C>T | p.Thr212Met | Missense | 7/14 | - |
21-47552006-G-A | COL6A2 | c.2600G>A | p.Arg867Gln | Missense | 28/28 | - |
4-55131118-C-T | PDGFRA | c.661C>T | p.Leu221Phe | Missense | 5/23 | - |
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 | - |
4-110638824-C-T | PLA2G12A | c.331G>A | p.Asp111Asn | Missense | 3/4 | - |
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 |
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 | - |
6-32185028-C-A | NOTCH4 | c.1640G>T | p.Arg547Leu | Missense | 10/30 | - |
3-52556184-C-G | STAB1 | c.6403C>G | p.Pro2135Ala | Missense | 59/69 | - |
17-73738809-C-T | ITGB4 | c.2929C>T | p.Arg977Cys | Missense | 25/40 | - |
4-110670749-C-T | CFI | c.950G>A | p.Arg317Gln | Missense | 9/13 | - |
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 | - |
4-110681789-G-T | CFI | c.662C>A | p.Ser221Tyr | Missense | 5/13 | - |
15-62315982-T-C | VPS13C | c.386-263A>G | - | IntronicSNV | - | 5/82 |
9-77684824-G-A | NMRK1 | c.304C>T | p.Leu102Phe | Missense | 5/9 | - |
7-75401263-C-T | CCL26 | c.132G>A | p.Trp44* | Nonsense | 3/4 | - |
2-54080702-A-C | GPR75-ASB3 | c.101+6263T>G | - | IntronicSNV | - | 1/9 |
17-1674431-C-T | SERPINF1 | c.392C>T | p.Ala131Val | Missense | 4/8 | - |
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 | - |
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 | - |
1-63063465-C-T | ANGPTL3 | c.228C>T | p.Asn76Asn | Synonymous | 1/7 | - |
8-2092718-C-T | MYOM2 | c.4211C>T | p.Thr1404Ile | Missense | 37/37 | - |
6-169626325-C-T | THBS2 | c.2488G>A | p.Gly830Ser | Missense | 17/23 | - |
17-21207838-G-C | MAP2K3 | c.669G>C | p.Met223Ile | Missense | 8/12 | - |
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 | - |
5-5140798-C-T | ADAMTS16 | c.94C>T | p.Pro32Ser | Missense | 2/23 | - |
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 | - |
19-6667151-C-T | TNFSF14 | c.271G>A | p.Glu91Lys | Missense | 4/5 | - |
16-23099059-T-A | USP31 | c.1513A>T | p.Thr505Ser | Missense | 8/16 | - |
1-233231463-T-A | PCNX2 | c.3946+38A>T | - | IntronicSNV | - | 22/33 |
6-31732097-G-A | SAPCD1 | c.406G>A | p.Glu136Lys | Missense | 4/5 | - |
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 | - |
9-77684824-G-C | NMRK1 | c.304C>G | p.Leu102Val | Missense | 5/9 | - |
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-T | COL6A2 | c.1769C>T | p.Thr590Met | Missense | 23/28 | - |
9-135779052-G-A | TSC1 | c.2194C>T | p.His732Tyr | Missense | 17/23 | - |
10-81372166-C-T | SFTPA1 | c.271C>T | p.Pro91Ser | Missense | 4/6 | - |
2-215910574-G-T | ABCA12 | c.859C>A | p.Arg287Arg | Synonymous | 7/53 | - |
20-10622214-C-A | JAG1 | c.2810G>T | p.Arg937Leu | Missense | 23/26 | - |
16-23080375-C-G | USP31 | c.3051G>C | p.Lys1017Asn | Missense | 16/16 | - |
20-10622214-C-T | JAG1 | c.2810G>A | p.Arg937Gln | Missense | 23/26 | - |
9-15175098-G-A | TTC39B | c.1877C>T | p.Pro626Leu | Missense | 19/20 | - |
4-57777171-C-G | REST | c.367C>G | p.Pro123Ala | Missense | 2/4 | - |
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-G | SFTPA1 | c.271C>G | p.Pro91Ala | Missense | 4/6 | - |
5-35065513-T-A | PRLR | c.1547A>T | p.Asn516Ile | Missense | 10/10 | - |
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 | - |
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 | - |
1-232539219-C-T | SIPA1L2 | c.4915G>A | p.Gly1639Ser | Missense | 19/21 | - |
22-38478793-C-T | SLC16A8 | c.88G>A | p.Gly30Ser | Missense | 2/5 | - |
17-76400105-T-G | PGS1 | c.1337T>G | p.Leu446Arg | Missense | 7/10 | - |
6-161006084-G-T | LPA | c.4283C>A | p.Pro1428Gln | Missense | 26/39 | - |
4-57843300-T-C | NOA1 | c.452A>G | p.Gln151Arg | Missense | 1/7 | - |
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-T | PAPPA2 | c.2375C>T | p.Thr792Ile | Missense | 5/23 | - |
2-46842119-A-G | PIGF | c.185T>C | p.Val62Ala | Missense | 2/7 | - |
1-120468201-A-T | NOTCH2 | c.4238T>A | p.Leu1413His | Missense | 25/34 | - |
9-77683924-T-G | NMRK1 | c.484A>C | p.Thr162Pro | Missense | 7/9 | - |
3-118621387-G-T | IGSF11 | c.1276C>A | p.Arg426Arg | Synonymous | 7/7 | - |
7-73013995-G-A | MLXIPL | c.932C>T | p.Pro311Leu | Missense | 8/17 | - |
1-232539219-C-G | SIPA1L2 | c.4915G>C | p.Gly1639Arg | Missense | 19/21 | - |
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 | - |
12-58159173-C-G | CYP27B1 | c.496G>C | p.Val166Leu | Missense | 3/9 | - |
19-1056169-G-A | ABCA7 | c.4343G>A | p.Gly1448Asp | Missense | 32/47 | - |
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 | - |
13-95735484-T-C | ABCC4 | c.2596A>G | p.Ile866Val | Missense | 21/31 | - |
15-42442838-C-T | PLA2G4F | c.739G>A | p.Val247Met | Missense | 8/20 | - |
19-54848172-G-C | LILRA4 | c.1195C>G | p.Arg399Gly | Missense | 6/8 | - |
19-54848172-G-A | LILRA4 | c.1195C>T | p.Arg399Cys | Missense | 6/8 | - |
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 | - |
2-21225500-A-G | APOB | c.12794T>C | p.Val4265Ala | Missense | 29/29 | - |
5-139936825-G-C | SRA1 | c.94C>G | p.Gln32Glu | Missense | 2/5 | - |
3-46307313-A-G | CCR3 | c.718A>G | p.Ile240Val | Missense | 3/3 | - |
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 | - |
10-50667120-T-G | ERCC6 | c.4223A>C | p.Glu1408Ala | Missense | 21/21 | - |
2-215917233-G-A | ABCA12 | c.485C>T | p.Ala162Val | Missense | 5/53 | - |
9-135772014-C-T | TSC1 | c.3103G>A | p.Gly1035Ser | Missense | 23/23 | - |
21-47551964-G-A | COL6A2 | c.2558G>A | p.Arg853Gln | Missense | 28/28 | - |
6-29911284-T-A | HLA-A | c.583T>A | p.Tyr195Asn | Missense | 3/8 | - |
1-226033035-T-A | EPHX1 | c.1355T>A | p.Leu452Gln | Missense | 9/9 | - |
4-57829669-G-C | NOA1 | c.2044C>G | p.Pro682Ala | Missense | 7/7 | - |
11-116707044-A-T | APOA1 | c.284T>A | p.Phe95Tyr | Missense | 4/4 | - |
9-137309155-G-A | RXRA | c.762G>A | p.Met254Ile | Missense | 5/10 | - |
6-160969693-T-G | LPA | c.4974-2A>C | - | IntronicSNV | - | 30/38 |
2-3673680-A-G | COLEC11 | c.203-11443A>G | - | IntronicSNV | - | 3/6 |
12-73056956-G-A | TRHDE | c.3056G>A | p.Gly1019Glu | Missense | 19/19 | - |
9-133928352-G-C | LAMC3 | c.1939G>C | p.Gly647Arg | Missense | 11/28 | - |
9-133928352-G-A | LAMC3 | c.1939G>A | p.Gly647Ser | Missense | 11/28 | - |
3-52556127-A-G | STAB1 | c.6346A>G | p.Thr2116Ala | Missense | 59/69 | - |
7-2752383-C-A | AMZ1 | c.1368C>A | p.Ser456Arg | Missense | 7/7 | - |
9-125152621-G-A | PTGS1 | c.1441G>A | p.Val481Ile | Missense | 10/11 | - |
7-99445188-G-T | CYP3A43 | c.341-8026G>T | - | IntronicSNV | - | 4/9 |
7-99445188-G-A | CYP3A43 | c.341-8026G>A | - | IntronicSNV | - | 4/9 |
1-15832495-T-G | CASP9 | c.461A>C | p.His154Pro | Missense | 5/9 | - |
15-62219337-G-A | VPS13C | c.6340C>T | p.Leu2114Phe | Missense | 50/83 | - |
6-30529700-C-T | PRR3 | c.259C>T | p.Arg87Trp | Missense | 3/4 | - |
8-2000428-G-A | MYOM2 | c.260G>A | p.Ser87Asn | Missense | 3/37 | - |
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 | - |
10-88419700-G-T | OPN4 | c.849G>T | p.Trp283Cys | Missense | 6/10 | - |
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 | - |
20-60902965-G-A | LAMA5 | c.4754C>T | p.Ala1585Val | Missense | 36/80 | - |
20-61453149-T-C | COL9A3 | c.410T>C | p.Leu137Pro | Missense | 8/32 | - |
5-39308335-C-T | C9 | c.1237G>A | p.Ala413Thr | Missense | 8/11 | - |
2-189861933-C-A | COL3A1 | c.1804C>A | p.Pro602Thr | Missense | 25/51 | - |
2-189861933-C-G | COL3A1 | c.1804C>G | p.Pro602Ala | Missense | 25/51 | - |
6-161007619-G-A | LPA | c.3991C>T | p.Arg1331Cys | Missense | 25/39 | - |
6-161007619-G-T | LPA | c.3991C>A | p.Arg1331Ser | Missense | 25/39 | - |
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 | - |
11-85701307-T-C | PICALM | c.1394A>G | p.His465Arg | Missense | 13/20 | - |
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 | - |
1-232534919-C-T | SIPA1L2 | c.5123G>A | p.Arg1708Gln | Missense | 21/21 | - |
12-48380926-G-A | COL2A1 | c.1300C>T | p.Pro434Ser | Missense | 21/54 | - |
16-23079872-C-T | USP31 | c.3554G>A | p.Arg1185Gln | Missense | 16/16 | - |
16-23079872-C-G | USP31 | c.3554G>C | p.Arg1185Pro | Missense | 16/16 | - |
16-23079872-C-A | USP31 | c.3554G>T | p.Arg1185Leu | Missense | 16/16 | - |
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 | - |
6-31836994-C-T | SLC44A4 | c.1045G>A | p.Ala349Thr | 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 | - |
6-30647035-G-T | PPP1R18 | c.1743C>A | p.Asp581Glu | Missense | 2/3 | - |
4-110681763-C-T | CFI | c.688G>A | p.Val230Met | Missense | 5/13 | - |
6-31931747-G-A | SKIV2L | c.1705G>A | p.Val569Met | Missense | 16/28 | - |
4-69795670-G-A | UGT2A3 | c.1445C>T | p.Thr482Ile | Missense | 6/6 | - |
17-1673303-C-G | SERPINF1 | c.242C>G | p.Ser81Cys | Missense | 3/8 | - |
7-99564870-C-T | AZGP1 | c.653G>A | p.Gly218Glu | Missense | 4/4 | - |
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 | - |
15-42436737-C-T | PLA2G4F | c.1886G>A | p.Arg629His | Missense | 17/20 | - |
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 | - |
4-76943947-G-T | CXCL10 | c.85C>A | p.Arg29Ser | Missense | 2/4 | - |
16-2112558-G-A | TSC2 | c.1318G>A | p.Gly440Ser | Missense | 13/42 | - |
3-107491892-G-T | BBX | c.1324G>T | p.Ala442Ser | Missense | 11/17 | - |
17-1673303-C-A | SERPINF1 | c.242C>A | p.Ser81Tyr | Missense | 3/8 | - |
7-99564870-C-G | AZGP1 | c.653G>C | p.Gly218Ala | Missense | 4/4 | - |
4-69796307-C-T | UGT2A3 | c.1261G>A | p.Glu421Lys | Missense | 5/6 | - |
3-48613683-G-A | COL7A1 | c.5819C>T | p.Pro1940Leu | Missense | 70/118 | - |
20-10625624-C-T | JAG1 | c.2231G>A | p.Arg744Gln | Missense | 18/26 | - |
20-61458135-G-A | COL9A3 | c.755G>A | p.Arg252Gln | Missense | 15/32 | - |
8-2033495-G-T | MYOM2 | c.1617G>T | p.Lys539Asn | Missense | 14/37 | - |
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 | - |
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 | - |
4-84216649-G-A | HPSE | c.1480C>T | p.Gln494* | Nonsense | 13/13 | - |
1-63063616-C-T | ANGPTL3 | c.379C>T | p.Leu127Phe | Missense | 1/7 | - |
1-183079729-C-T | LAMC1 | c.961C>T | p.Pro321Ser | Missense | 4/28 | - |
17-6908625-G-A | ALOX12 | c.1211G>A | p.Arg404Gln | Missense | 9/14 | - |
5-141993631-C-T | FGF1 | c.62G>A | p.Gly21Glu | Missense | 2/4 | - |
2-21232455-A-C | APOB | c.7285T>G | p.Ser2429Ala | Missense | 26/29 | - |
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 | - |
11-68177524-C-A | LRP5 | c.2234C>A | p.Ala745Glu | Missense | 10/23 | - |
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 | - |
2-227917090-T-C | COL4A4 | c.2899A>G | p.Ile967Val | Missense | 32/48 | - |
16-53860139-G-A | FTO | c.487G>A | p.Ala163Thr | Missense | 3/9 | - |
2-215821412-C-T | ABCA12 | c.6208G>A | p.Val2070Ile | Missense | 42/53 | - |
2-215821412-C-G | ABCA12 | c.6208G>C | p.Val2070Leu | Missense | 42/53 | - |
9-136302063-C-T | ADAMTS13 | c.1423C>T | p.Pro475Ser | Missense | 12/29 | - |
20-44639599-C-T | MMP9 | c.559C>T | p.Leu187Phe | Missense | 4/13 | - |
7-100014021-C-T | ZCWPW1 | c.538G>A | p.Glu180Lys | Missense | 7/18 | - |
8-2041834-A-C | MYOM2 | c.2041A>C | p.Ile681Leu | Missense | 17/37 | - |
6-401527-C-G | IRF4 | c.846C>G | p.Asp282Glu | Missense | 7/9 | - |
3-48629340-G-A | COL7A1 | c.1348C>T | p.Arg450Cys | Missense | 10/118 | - |
9-101782725-G-A | COL15A1 | c.1701+1G>A | - | IntronicSNV | - | 12/41 |
9-101782725-G-T | COL15A1 | c.1701+1G>T | - | IntronicSNV | - | 12/41 |
9-15187992-A-T | TTC39B | c.1372T>A | p.Cys458Ser | Missense | 14/20 | - |
17-80320049-G-A | TEX19 | c.23G>A | p.Arg8Gln | Missense | 2/2 | - |
6-32011639-T-C | TNXB | c.11411A>G | p.Gln3804Arg | Missense | 35/44 | - |
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 | - |
19-54848145-G-C | LILRA4 | c.1222C>G | p.His408Asp | Missense | 6/8 | - |
20-60928304-A-G | LAMA5 | c.454T>C | p.Phe152Leu | Missense | 3/80 | - |
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 | - |
4-110681781-C-T | CFI | c.670G>A | p.Asp224Asn | Missense | 5/13 | - |
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 | - |
9-137801759-T-C | FCN1 | c.866A>G | p.Asn289Ser | Missense | 9/9 | - |
21-47536717-G-A | COL6A2 | c.988G>A | p.Asp330Asn | Missense | 10/28 | - |
4-110681450-C-T | CFI | c.859G>A | p.Gly287Arg | Missense | 6/13 | - |
3-107435532-C-T | BBX | c.241C>T | p.Arg81Trp | Missense | 5/17 | - |
1-196695675-G-T | CFH | c.1949G>T | p.Gly650Val | Missense | 13/22 | - |
20-61449904-C-T | COL9A3 | c.182C>T | p.Pro61Leu | Missense | 3/32 | - |
15-38228620-G-A | TMCO5A | c.96G>A | p.Gln32Gln | Synonymous | 3/12 | - |
13-111164315-C-T | COL4A2 | c.4916C>T | p.Ser1639Leu | Missense | 48/48 | - |
4-110908933-T-C | EGF | c.2525T>C | p.Met842Thr | Missense | 17/23 | - |
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-T | LRCH1 | c.1858C>T | p.Arg620Cys | Missense | 17/19 | - |
20-56728632-G-A | C20orf85 | c.101G>A | p.Arg34Gln | Missense | 2/4 | - |
8-6479161-A-T | MCPH1 | c.2401A>T | p.Ser801Cys | Missense | 13/14 | - |
8-6479161-A-G | MCPH1 | c.2401A>G | p.Ser801Gly | Missense | 13/14 | - |
8-18258126-A-G | NAT2 | c.613A>G | p.Met205Val | Missense | 2/2 | - |
19-47844951-C-G | C5AR2 | c.895C>G | p.Leu299Val | Missense | 2/2 | - |
17-74383648-C-T | SPHK1 | c.1178C>T | p.Pro393Leu | Missense | 6/6 | - |
9-21077313-G-C | IFNB1 | c.556C>G | p.Arg186Gly | Missense | 1/1 | - |
12-12279793-C-A | LRP6 | c.4144G>T | p.Val1382Phe | Missense | 20/23 | - |
9-133928352-G-T | LAMC3 | c.1939G>T | p.Gly647Cys | Missense | 11/28 | - |
8-2040288-G-A | MYOM2 | c.1943G>A | p.Cys648Tyr | Missense | 16/37 | - |
1-103355059-G-T | COL11A1 | c.4068C>A | p.Asp1356Glu | Missense | 57/65 | - |
1-68910315-C-T | RPE65 | c.394G>A | p.Ala132Thr | Missense | 5/14 | - |
6-30632655-T-C | DHX16 | c.1240A>G | p.Asn414Asp | Missense | 7/20 | - |
8-27462662-G-A | CLU | c.608C>T | p.Thr203Ile | Missense | 5/9 | - |
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 | - |
11-65638718-C-T | EFEMP2 | c.277G>A | p.Gly93Ser | Missense | 4/11 | - |
2-189855743-G-A | COL3A1 | c.812G>A | p.Arg271Gln | Missense | 11/51 | - |
3-9974882-A-G | IL17RC | c.1723A>G | p.Ser575Gly | Missense | 18/18 | - |
6-32020572-C-T | TNXB | c.8984G>A | p.Arg2995His | Missense | 26/44 | - |
4-157891963-C-A | PDGFC | c.93G>T | p.Gln31His | Missense | 1/6 | - |
4-110681708-C-T | CFI | c.743G>A | p.Gly248Glu | Missense | 5/13 | - |
2-206590654-C-T | NRP2 | c.838C>T | p.Pro280Ser | Missense | 6/17 | - |
2-21228263-G-A | APOB | c.11477C>T | p.Thr3826Met | Missense | 26/29 | - |
2-21228263-G-T | APOB | c.11477C>A | p.Thr3826Lys | Missense | 26/29 | - |
21-47552449-A-C | COL6A2 | c.3043A>C | p.Ile1015Leu | Missense | 28/28 | - |
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 | - |
4-178359970-A-C | AGA | c.436T>G | p.Leu146Val | Missense | 4/9 | - |
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 | - |
3-48621017-G-A | COL7A1 | c.4373C>T | p.Pro1458Leu | Missense | 40/118 | - |
16-2112989-G-A | TSC2 | c.1378G>A | p.Ala460Thr | Missense | 14/42 | - |
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 | - |
1-57409459-C-A | C8B | c.1144G>T | p.Asp382Tyr | Missense | 8/12 | - |
6-31747833-G-A | VARS | c.3023C>T | p.Pro1008Leu | Missense | 26/30 | - |
15-62204043-G-A | VPS13C | c.8582C>T | p.Ser2861Leu | Missense | 61/83 | - |
6-30681090-G-A | MDC1 | c.629C>T | p.Pro210Leu | Missense | 5/15 | - |
21-46932115-G-A | COL18A1 | c.4354G>A | - | missense_variant | 41/41 | - |
9-137804881-G-A | FCN1 | c.449C>T | p.Thr150Met | Missense | 6/9 | - |
17-48629370-G-A | SPATA20 | c.1786G>A | p.Val596Met | Missense | 14/17 | - |
13-47260054-T-C | LRCH1 | c.700T>C | p.Ser234Pro | Missense | 5/19 | - |
1-196684857-GTG-ATC | CFH | c.1654_1656delGTGinsATC | p.Val552Ile | Missense | 11/22 | - |
8-2041820-C-T | MYOM2 | c.2027C>T | p.Thr676Met | Missense | 17/37 | - |
17-37226111-C-T | PLXDC1 | c.1381G>A | p.Glu461Lys | Missense | 13/14 | - |
1-22964189-G-A | C1QA | c.80G>A | p.Arg27Gln | Missense | 2/3 | - |
2-21224850-T-C | APOB | c.13444A>G | p.Ile4482Val | Missense | 29/29 | - |
1-186113727-G-A | HMCN1 | c.14158G>A | p.Ala4720Thr | Missense | 91/107 | - |
8-23106860-C-T | CHMP7 | c.437C>T | p.Ala146Val | Missense | 3/11 | - |
5-169310407-C-T | DOCK2 | c.2799+42551C>T | - | IntronicSNV | - | 27/51 |
5-169310407-C-G | DOCK2 | c.2799+42551C>G | - | IntronicSNV | - | 27/51 |
16-31391381-G-A | ITGAX | c.3055G>A | p.Val1019Met | Missense | 26/30 | - |
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 | - |
6-31855727-C-T | EHMT2 | c.1757G>A | p.Arg586Gln | Missense | 14/28 | - |
8-23049208-C-A | TNFRSF10A | c.1406G>T | - | Missense | 10/10 | - |
1-57333311-C-T | C8A | c.107C>T | p.Ala36Val | Missense | 2/11 | - |
9-107589238-C-G | ABCA1 | c.2328G>C | p.Lys776Asn | Missense | 16/50 | - |
4-37445144-A-G | NWD2 | c.1534A>G | p.Ile512Val | Missense | 7/7 | - |
10-55600246-G-T | PCDH15 | c.3817C>A | p.Arg1273Ser | Missense | 29/33 | - |
8-116631660-T-C | TRPS1 | c.665A>G | p.Asn222Ser | Missense | 3/7 | - |
1-120548095-C-T | NOTCH2 | c.272G>A | p.Arg91Gln | Missense | 3/34 | - |
16-31340609-G-T | ITGAM | c.2853G>T | p.Met951Ile | Missense | 24/30 | - |
11-36614215-T-C | RAG2 | c.1504A>G | p.Met502Val | Missense | 2/2 | - |
5-35065862-C-G | PRLR | c.1198G>C | p.Glu400Gln | Missense | 10/10 | - |
9-133884693-G-T | LAMC3 | c.92G>T | p.Arg31Leu | Missense | 1/28 | - |
11-61730325-C-G | BEST1 | c.1699C>G | p.Leu567Val | Missense | 10/11 | - |
9-107582258-T-C | ABCA1 | c.3053A>G | p.Asp1018Gly | Missense | 21/50 | - |
6-31916951-T-C | CFB | c.1169-69T>C | - | IntronicSNV | - | 8/17 |
9-87325623-C-A | NTRK2 | c.500C>A | p.Ser167Tyr | Missense | 8/15 | - |
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 | - |
4-69811110-A-C | UGT2A3 | c.778T>G | p.Trp260Gly | Missense | 2/6 | - |
4-110590479-G-A | MCUB | c.451+4929G>A | - | IntronicSNV | - | 4/7 |
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 | - |
4-177650866-C-A | VEGFC | c.182G>T | p.Arg61Leu | Missense | 2/7 | - |
4-177650866-C-T | VEGFC | c.182G>A | p.Arg61Gln | Missense | 2/7 | - |
4-69796319-T-A | UGT2A3 | c.1249A>T | p.Thr417Ser | Missense | 5/6 | - |
6-43565568-G-T | POLH | c.626G>T | p.Gly209Val | Missense | 5/11 | - |
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 | - |
17-48625801-A-G | SPATA20 | c.283A>G | p.Asn95Asp | Missense | 3/17 | - |
14-62204819-G-T | HIF1A | c.1264G>T | p.Asp422Tyr | Missense | 10/15 | - |
1-207648499-G-A | CR2 | c.2477G>A | p.Arg826His | Missense | 13/19 | - |
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 | - |
6-32011639-T-A | TNXB | c.11411A>T | p.Gln3804Leu | Missense | 35/44 | - |
1-183204796-C-T | LAMC2 | c.2387C>T | p.Ala796Val | Missense | 16/23 | - |
8-123964912-G-A | ZHX2 | c.1162G>A | p.Val388Ile | Missense | 3/4 | - |
6-161152085-G-A | PLG | c.1259G>A | p.Gly420Asp | Missense | 11/19 | - |
1-186072648-G-A | HMCN1 | c.10618G>A | p.Val3540Ile | Missense | 69/107 | - |
15-42734481-G-T | ZNF106 | c.3484C>A | p.Pro1162Thr | Missense | 7/19 | - |
20-60885242-C-T | LAMA5 | c.10726G>A | p.Glu3576Lys | Missense | 77/80 | - |
20-44637635-C-T | MMP9 | c.70C>T | p.Arg24Cys | Missense | 1/13 | - |
6-31731195-C-T | SAPCD1 | c.118C>T | p.Arg40Cys | Missense | 2/5 | - |
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 | - |
5-174869327-G-T | DRD1 | c.776C>A | p.Ser259Tyr | Missense | 2/2 | - |
17-66928460-T-C | ABCA8 | c.766A>G | p.Thr256Ala | Missense | 6/38 | - |
12-20522796-T-C | PDE3A | c.578T>C | p.Val193Ala | Missense | 1/16 | - |
17-73738426-G-A | ITGB4 | c.2638G>A | p.Asp880Asn | Missense | 24/40 | - |
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 | - |
17-33255068-C-A | CCT6B | c.1592G>T | - | Missense | 14/14 | - |
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 | - |
16-66847575-C-T | NAE1 | c.926G>A | p.Arg309His | Missense | 13/20 | - |
4-120423809-A-T | PDE5A | c.2333T>A | p.Ile778Lys | Missense | 19/21 | - |
4-120423809-A-G | PDE5A | c.2333T>C | p.Ile778Thr | Missense | 19/21 | - |
20-60888510-G-A | LAMA5 | c.8665C>T | p.Pro2889Ser | Missense | 64/80 | - |
10-1284303-C-T | ADARB2 | c.1252G>A | p.Gly418Ser | Missense | 5/10 | - |
2-215798851-G-A | ABCA12 | c.7631C>T | p.Thr2544Ile | Missense | 52/53 | - |
20-61453127-G-A | COL9A3 | c.388G>A | p.Gly130Ser | Missense | 8/32 | - |
20-23064912-T-A | CD93 | c.1918A>T | p.Met640Leu | Missense | 1/2 | - |
4-1806131-T-C | FGFR3 | c.1150T>C | p.Phe384Leu | Missense | 9/18 | - |
1-186121995-A-T | HMCN1 | c.15010A>T | p.Thr5004Ser | Missense | 96/107 | - |
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 | - |
5-39331786-T-C | C9 | c.607A>G | p.Ile203Val | Missense | 5/11 | - |
1-57341737-C-T | C8A | c.319C>T | p.Arg107Cys | Missense | 4/11 | - |
1-94505604-A-C | ABCA4 | c.3602T>G | p.Leu1201Arg | Missense | 24/50 | - |
2-21224850-T-A | APOB | c.13444A>T | p.Ile4482Phe | Missense | 29/29 | - |
2-21225912-C-T | APOB | c.12382G>A | p.Val4128Met | Missense | 29/29 | - |
16-81298282-C-T | BCO1 | c.509C>T | p.Thr170Met | Missense | 5/11 | - |
8-2033495-G-C | MYOM2 | c.1617G>C | p.Lys539Asn | Missense | 14/37 | - |
1-206905941-G-T | MAPKAPK2 | c.*505G>T | - | 3-UTRSNV | 10/10 | - |
2-227660067-C-G | IRS1 | c.3388G>C | p.Gly1130Arg | Missense | 1/2 | - |
4-177713326-T-A | VEGFC | c.140A>T | p.Glu47Val | Missense | 1/7 | - |
20-44639214-C-T | MMP9 | c.464C>T | p.Thr155Ile | Missense | 3/13 | - |
6-31750517-T-C | VARS | c.1868A>G | p.Asn623Ser | Missense | 15/30 | - |
17-66902302-G-A | ABCA8 | c.2161C>T | p.Leu721Phe | Missense | 17/38 | - |
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 | - |
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 | - |
11-34475387-C-G | CAT | c.625C>G | p.His209Asp | Missense | 6/13 | - |
17-61562654-C-G | ACE | c.1979C>G | p.Ser660Cys | Missense | 13/25 | - |
10-105800115-C-T | COL17A1 | c.2755G>A | p.Asp919Asn | Missense | 40/56 | - |
2-237489232-G-A | ACKR3 | c.124G>A | p.Val42Ile | Missense | 2/2 | - |
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 | - |
4-110662144-G-A | CFI | c.1657C>T | p.Pro553Ser | Missense | 13/13 | - |
9-114994395-G-C | PTBP3 | c.1004C>G | p.Thr335Arg | Missense | 9/14 | - |
12-123808302-C-T | SBNO1 | c.2047G>A | p.Asp683Asn | Missense | 16/32 | - |
8-135614553-G-C | ZFAT | c.1373C>G | p.Ser458Cys | Missense | 7/17 | - |
1-233296041-G-A | PCNX2 | c.3505C>T | p.Arg1169Trp | Missense | 19/34 | - |
3-9974543-G-C | IL17RC | c.1477+1G>C | - | IntronicSNV | - | 17/17 |
1-22987340-G-A | C1QB | c.223G>A | p.Gly75Arg | Missense | 3/3 | - |
2-21229446-G-C | APOB | c.10294C>G | p.Gln3432Glu | Missense | 26/29 | - |
16-81323953-G-C | BCO1 | c.1415G>C | p.Gly472Ala | Missense | 11/11 | - |
3-46306642-G-A | CCR3 | c.47G>A | p.Arg16Lys | Missense | 3/3 | - |
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 | - |
3-100951820-G-A | IMPG2 | c.3038C>T | p.Pro1013Leu | Missense | 15/19 | - |
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 | - |
6-116446506-A-T | COL10A1 | c.150T>A | p.Ser50Arg | Missense | 2/3 | - |
19-5844796-C-T | FUT3 | c.55G>A | p.Ala19Thr | Missense | 3/3 | - |
4-178283446-G-T | NEIL3 | c.1639G>T | p.Ala547Ser | Missense | 10/10 | - |
22-42523475-C-T | CYP2D6 | c.1147G>A | p.Glu383Lys | Missense | 7/9 | - |
22-42523475-C-G | CYP2D6 | c.1147G>C | p.Glu383Gln | Missense | 7/9 | - |
2-20234122-C-A | LAPTM4A | c.583G>T | p.Val195Leu | Missense | 6/7 | - |
2-20234122-C-T | LAPTM4A | c.583G>A | p.Val195Met | Missense | 6/7 | - |
4-178272608-G-C | NEIL3 | c.944G>C | p.Arg315Pro | Missense | 7/10 | - |
20-60898581-T-C | LAMA5 | c.5995A>G | p.Thr1999Ala | Missense | 45/80 | - |
17-61556415-G-C | ACE | c.465G>C | p.Lys155Asn | Missense | 3/25 | - |
4-55138648-T-C | PDGFRA | c.1325T>C | p.Leu442Pro | Missense | 9/23 | - |
15-66813452-C-T | ZWILCH | c.656C>T | p.Thr219Ile | Missense | 7/19 | - |
10-50678884-T-G | ERCC6 | c.3122A>C | p.Gln1041Pro | Missense | 18/21 | - |
10-50678884-T-A | ERCC6 | c.3122A>T | p.Gln1041Leu | Missense | 18/21 | - |
2-206581033-G-A | NRP2 | c.368G>A | p.Arg123Lys | Missense | 3/17 | - |
1-68904660-A-C | RPE65 | c.963T>G | p.Asn321Lys | Missense | 9/14 | - |
6-32032628-C-T | TNXB | c.6811G>A | p.Val2271Met | Missense | 19/44 | - |
6-161137790-G-C | PLG | c.782G>C | p.Arg261Pro | Missense | 7/19 | - |
6-161137790-G-A | PLG | c.782G>A | p.Arg261His | Missense | 7/19 | - |
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 | - |
16-57015076-G-C | CETP | c.1153G>C | p.Val385Leu | Missense | 12/16 | - |
20-60893697-C-T | LAMA5 | c.7052G>A | p.Arg2351Gln | Missense | 53/80 | - |
19-54848145-G-A | LILRA4 | c.1222C>T | p.His408Tyr | Missense | 6/8 | - |
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 | - |
10-81372080-C-T | SFTPA1 | c.185C>T | p.Pro62Leu | Missense | 4/6 | - |
6-76640695-G-A | IMPG1 | c.2218C>T | p.Leu740Phe | Missense | 15/17 | - |
2-21227503-T-C | APOB | c.11833A>G | p.Thr3945Ala | Missense | 27/29 | - |
9-6250600-G-A | IL33 | c.217+1G>A | - | IntronicSNV | - | 3/7 |
8-38869207-G-C | ADAM9 | c.226G>C | p.Glu76Gln | Missense | 3/22 | - |
1-161641187-C-T | FCGR2B | c.139C>T | p.Pro47Ser | Missense | 3/8 | - |
1-196928157-C-T | CFHR2 | c.760C>T | p.Arg254* | Nonsense | 5/5 | - |
5-123983778-C-T | ZNF608 | c.2299G>A | p.Gly767Arg | Missense | 4/9 | - |
6-116381177-T-C | FRK | c.298A>G | p.Ile100Val | Missense | 1/8 | - |
15-66845438-T-G | LCTL | c.1081A>C | p.Ser361Arg | Missense | 10/14 | - |
4-128632210-T-C | INTU | c.2512T>C | p.Cys838Arg | Missense | 14/16 | - |
15-42631950-C-T | GANC | c.1927C>T | p.Arg643Cys | Missense | 17/24 | - |
11-46911956-T-C | LRP4 | c.1787A>G | p.His596Arg | Missense | 14/38 | - |
18-18571171-T-A | ROCK1 | c.2109A>T | p.Gln703His | Missense | 18/33 | - |
10-50690906-G-A | ERCC6 | c.1996C>T | p.Arg666Cys | Missense | 10/21 | - |
15-89448988-C-T | MFGE8 | c.685G>A | p.Gly229Arg | Missense | 5/8 | - |
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 | - |
1-227071475-C-T | PSEN2 | c.211C>T | p.Arg71Trp | Missense | 5/13 | - |
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 | - |
19-51728729-G-A | CD33 | c.293G>A | p.Arg98Lys | Missense | 2/7 | - |
4-110687919-T-C | CFI | c.119A>G | p.His40Arg | Missense | 2/13 | - |
1-94502906-C-T | ABCA4 | c.3608G>A | p.Gly1203Glu | Missense | 25/50 | - |
1-226026377-C-A | EPHX1 | c.387C>A | p.His129Gln | Missense | 4/9 | - |
16-57015076-G-A | CETP | c.1153G>A | p.Val385Met | Missense | 12/16 | - |
10-135351264-G-A | CYP2E1 | c.1165G>A | p.Val389Ile | Missense | 8/9 | - |
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 | - |
4-178359960-G-C | AGA | c.446C>G | p.Thr149Ser | Missense | 4/9 | - |
9-133948184-G-C | LAMC3 | c.3379G>C | p.Glu1127Gln | Missense | 19/28 | - |
7-2748787-T-C | AMZ1 | c.680T>C | p.Val227Ala | Missense | 5/7 | - |
21-46913477-G-C | COL18A1 | c.2880G>C | p.Gln960His | Missense | 25/41 | - |
16-76555177-A-T | CNTNAP4 | c.2503A>T | - | missense_variant | 17/25 | - |
17-61574284-C-G | ACE | c.3629C>G | p.Thr1210Arg | Missense | 24/25 | - |
16-76555177-A-G | CNTNAP4 | c.2503A>G | - | missense_variant | 17/25 | - |
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 | - |
6-31732059-T-C | SAPCD1 | c.368T>C | p.Leu123Pro | Missense | 4/5 | - |
8-2054077-A-C | MYOM2 | c.2780A>C | p.Tyr927Ser | Missense | 22/37 | - |
1-11102940-G-A | MASP2 | c.881C>T | p.Thr294Met | Missense | 6/11 | - |
17-21208417-G-T | MAP2K3 | c.751G>T | p.Val251Phe | Missense | 9/12 | - |
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 | - |
1-196679455-A-C | CFH | c.1337-3410A>C | - | IntronicSNV | - | 9/21 |
16-2120487-G-A | TSC2 | c.1747G>A | p.Ala583Thr | Missense | 17/42 | - |
6-30624241-T-C | DHX16 | c.2357A>G | p.Tyr786Cys | Missense | 15/20 | - |
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 | - |
12-125299559-G-A | SCARB1 | c.386C>T | p.Ser129Leu | Missense | 3/13 | - |
18-18546896-T-G | ROCK1 | c.3334A>C | p.Thr1112Pro | Missense | 27/33 | - |
9-130588920-G-T | ENG | c.392C>A | p.Pro131Gln | Missense | 4/14 | - |
7-99474158-G-T | OR2AE1 | c.499C>A | p.Pro167Thr | Missense | 1/1 | - |
9-137777100-A-G | FCN2 | c.317A>G | p.Lys106Arg | Missense | 5/8 | - |
22-33255244-C-T | TIMP3 | c.516C>T | p.Phe172Phe | Synonymous | 5/5 | - |
14-62187212-G-C | HIF1A | c.148G>C | p.Val50Leu | Missense | 2/15 | - |
1-57373737-G-T | C8A | c.1331G>T | p.Arg444Leu | Missense | 9/11 | - |
1-57373737-G-A | C8A | c.1331G>A | p.Arg444His | Missense | 9/11 | - |
10-105794406-G-T | COL17A1 | c.3739C>A | p.Arg1247Arg | Synonymous | 51/56 | - |
10-105794406-G-C | COL17A1 | c.3739C>G | p.Arg1247Gly | Missense | 51/56 | - |
1-196952092-C-T | CFHR5 | c.136C>T | p.Pro46Ser | Missense | 2/10 | - |
1-185976299-C-G | HMCN1 | c.4515C>G | p.Asp1505Glu | Missense | 30/107 | - |
1-94517254-C-T | ABCA4 | c.2588G>A | p.Gly863Glu | Missense | 17/50 | - |
8-38879190-C-T | ADAM9 | c.701C>T | p.Ala234Val | Missense | 8/22 | - |
14-103600056-C-T | TNFAIP2 | c.1739C>T | p.Thr580Met | Missense | 10/11 | - |
1-155028450-C-T | ADAM15 | c.718C>T | p.Leu240Leu | Synonymous | 8/21 | - |
12-9307415-G-A | PZP | c.3571C>T | p.Arg1191Cys | Missense | 29/36 | - |
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 | - |
18-63476982-A-G | CDH7 | c.253A>G | p.Ile85Val | Missense | 3/12 | - |
2-228118867-G-A | COL4A3 | c.805G>A | p.Glu269Lys | Missense | 14/52 | - |
13-95705380-G-C | ABCC4 | c.3425C>G | p.Thr1142Arg | Missense | 27/31 | - |
13-95705380-G-A | ABCC4 | c.3425C>T | p.Thr1142Met | Missense | 27/31 | - |
18-18546896-T-C | ROCK1 | c.3334A>G | p.Thr1112Ala | Missense | 27/33 | - |
7-150707344-G-A | NOS3 | c.2654G>A | p.Arg885Lys | Missense | 21/27 | - |
7-150707344-G-C | NOS3 | c.2654G>C | p.Arg885Thr | Missense | 21/27 | - |
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 | - |
3-171321023-C-T | PLD1 | c.3070G>A | p.Val1024Ile | Missense | 27/27 | - |
1-196709816-G-T | CFH | c.2850G>T | p.Gln950His | Missense | 18/22 | - |
1-196709816-G-A | CFH | c.2850G>A | p.Gln950Gln | Synonymous | 18/22 | - |
19-6736607-A-G | GPR108 | c.236T>C | p.Leu79Pro | Missense | 2/18 | - |
3-52551973-C-A | STAB1 | c.4715C>A | p.Ala1572Asp | Missense | 45/69 | - |
1-156786487-A-T | SH2D2A | c.14T>A | p.Leu5Gln | Missense | 1/9 | - |
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 | - |
1-186072727-G-A | HMCN1 | c.10697G>A | p.Gly3566Asp | Missense | 69/107 | - |
17-21205561-T-C | MAP2K3 | c.506T>C | p.Ile169Thr | Missense | 6/12 | - |
20-44540037-A-G | PLTP | c.55T>C | p.Phe19Leu | Missense | 2/16 | - |
6-31848492-G-C | EHMT2 | c.3410C>G | p.Ala1137Gly | Missense | 27/28 | - |
6-31734313-C-A | VWA7 | c.2111G>T | p.Gly704Val | Missense | 14/17 | - |
22-45960864-G-T | FBLN1 | c.1698-9527G>T | - | IntronicSNV | - | 14/16 |
22-45960864-G-A | FBLN1 | c.1698-9527G>A | - | IntronicSNV | - | 14/16 |
20-61449904-C-A | COL9A3 | c.182C>A | p.Pro61Gln | Missense | 3/32 | - |
10-105816862-C-T | COL17A1 | c.1336G>A | p.Gly446Ser | Missense | 17/56 | - |
10-105816862-C-G | COL17A1 | c.1336G>C | p.Gly446Arg | Missense | 17/56 | - |
15-75014027-A-G | CYP1A1 | c.857T>C | p.Ile286Thr | Missense | 3/7 | - |
1-120510113-G-T | NOTCH2 | c.1396C>A | p.Gln466Lys | Missense | 8/34 | - |
3-52548194-C-T | STAB1 | c.3511C>T | p.Arg1171Cys | Missense | 33/69 | - |
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 | - |
5-35065513-T-C | PRLR | c.1547A>G | p.Asn516Ser | Missense | 10/10 | - |
2-9633092-C-T | ADAM17 | c.2017G>A | p.Val673Ile | Missense | 17/19 | - |
15-62146742-T-C | VPS13C | c.11047A>G | p.Ile3683Val | Missense | 83/83 | - |
6-32150086-C-T | AGER | c.902G>A | p.Cys301Tyr | Missense | 8/11 | - |
9-107578620-G-A | ABCA1 | c.3542C>T | p.Ser1181Phe | Missense | 25/50 | - |
16-66436722-G-A | CDH5 | c.2005G>A | p.Gly669Ser | Missense | 12/12 | - |
16-17211545-C-T | XYLT1 | c.2515G>A | p.Val839Ile | Missense | 11/12 | - |
4-110681470-C-T | CFI | c.839G>A | p.Gly280Asp | Missense | 6/13 | - |
1-203452409-G-C | PRELP | c.97G>C | p.Gly33Arg | Missense | 2/3 | - |
11-10508903-G-C | AMPD3 | c.958G>C | p.Val320Leu | Missense | 6/15 | - |
4-55968597-G-A | KDR | c.2066C>T | p.Thr689Met | Missense | 14/30 | - |
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 | - |
15-89453043-G-C | MFGE8 | c.185C>G | p.Ala62Gly | Missense | 2/8 | - |
6-32097421-G-C | FKBPL | c.137C>G | p.Thr46Arg | Missense | 2/2 | - |
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 | - |
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 | - |
8-38871509-G-A | ADAM9 | c.280G>A | p.Val94Ile | Missense | 4/22 | - |
2-21234674-C-T | APOB | c.5066G>A | p.Arg1689His | Missense | 26/29 | - |
6-116574940-C-T | TSPYL4 | c.232G>A | p.Ala78Thr | Missense | 1/1 | - |
7-100091306-C-T | NYAP1 | c.2306C>T | p.Pro769Leu | Missense | 7/7 | - |
10-105840422-T-C | COL17A1 | c.10A>G | p.Thr4Ala | Missense | 2/56 | - |
9-120476817-G-A | TLR4 | c.2411G>A | p.Arg804Gln | Missense | 3/3 | - |
1-63063465-C-G | ANGPTL3 | c.228C>G | p.Asn76Lys | Missense | 1/7 | - |
16-53265391-T-C | CHD9 | c.2347T>C | p.Phe783Leu | Missense | 9/39 | - |
9-107594878-G-A | ABCA1 | c.1486C>T | p.Arg496Trp | Missense | 12/50 | - |
7-100004867-T-C | ZCWPW1 | c.1049A>G | p.His350Arg | Missense | 11/18 | - |
21-46897893-T-C | COL18A1 | c.1761+14T>C | - | IntronicSNV | - | 7/40 |
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-A | LRP1 | c.3644G>A | p.Gly1215Glu | Missense | 23/89 | - |
12-57569339-G-T | LRP1 | c.3644G>T | p.Gly1215Val | Missense | 23/89 | - |
6-31687027-G-C | LY6G6C | c.224C>G | p.Ala75Gly | Missense | 3/3 | - |
10-50680422-C-T | ERCC6 | c.2924G>A | p.Arg975Gln | Missense | 16/21 | - |
10-50680422-C-A | ERCC6 | c.2924G>T | p.Arg975Leu | Missense | 16/21 | - |
1-31347320-G-C | SDC3 | c.986C>G | p.Thr329Arg | Missense | 4/5 | - |
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-G | PVRIG | c.37C>G | p.Pro13Ala | Missense | 2/6 | - |
7-99817570-C-T | PVRIG | c.37C>T | p.Pro13Ser | Missense | 2/6 | - |
15-62212770-T-C | VPS13C | c.7010A>G | p.His2337Arg | Missense | 54/83 | - |
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 | - |
7-150706640-G-A | NOS3 | c.2479G>A | p.Val827Met | Missense | 20/27 | - |
11-10518373-C-T | AMPD3 | c.1472C>T | p.Ser491Leu | Missense | 10/15 | - |
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 | - |
4-187003729-C-G | TLR3 | c.889C>G | p.Leu297Val | Missense | 4/5 | - |
13-80095078-G-A | NDFIP2 | c.455G>A | p.Ser152Asn | Missense | 2/8 | - |
6-161006084-G-A | LPA | c.4283C>T | p.Pro1428Leu | Missense | 26/39 | - |
4-57843291-C-G | NOA1 | c.461G>C | p.Gly154Ala | Missense | 1/7 | - |
4-57843291-C-T | NOA1 | c.461G>A | p.Gly154Glu | Missense | 1/7 | - |
4-57843291-C-A | NOA1 | c.461G>T | p.Gly154Val | Missense | 1/7 | - |
11-117160380-T-C | BACE1 | c.1108A>G | p.Met370Val | Missense | 8/8 | - |
20-60897158-C-A | LAMA5 | c.6413G>T | p.Ser2138Ile | Missense | 48/80 | - |
9-77684860-C-G | NMRK1 | c.268G>C | p.Glu90Gln | Missense | 5/9 | - |
1-94467548-C-G | ABCA4 | c.6148G>C | p.Val2050Leu | Missense | 45/50 | - |
6-30671760-C-T | MDC1 | c.5200G>A | p.Ala1734Thr | Missense | 10/15 | - |
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 | - |
1-176659510-C-A | PAPPA2 | c.2375C>A | p.Thr792Asn | Missense | 5/23 | - |
6-32041543-G-A | TNXB | c.4562C>T | p.Ala1521Val | Missense | 12/44 | - |
4-110662179-C-T | CFI | c.1622G>A | p.Trp541* | Nonsense | 13/13 | - |
6-132645195-C-T | MOXD1 | c.988G>A | p.Asp330Asn | Missense | 7/12 | - |
6-31692395-C-T | MPIG6B | c.532C>T | p.Pro178Ser | Missense | 4/6 | - |
11-6432089-A-C | APBB1 | c.489T>G | p.Asp163Glu | Missense | 2/15 | - |
6-30679963-A-C | MDC1 | c.1756T>G | p.Ser586Ala | Missense | 5/15 | - |
7-73010191-C-T | MLXIPL | c.2167G>A | p.Glu723Lys | Missense | 14/17 | - |
4-110670437-C-G | CFI | c.1085G>C | p.Gly362Ala | Missense | 10/13 | - |
1-176659510-C-G | PAPPA2 | c.2375C>G | p.Thr792Ser | Missense | 5/23 | - |
1-186024643-G-T | HMCN1 | c.6981G>T | p.Met2327Ile | Missense | 45/107 | - |
15-90342752-C-G | ANPEP | c.1858G>C | p.Val620Leu | Missense | 13/21 | - |
20-60926766-G-A | LAMA5 | c.950C>T | p.Pro317Leu | Missense | 6/80 | - |
9-77684860-C-T | NMRK1 | c.268G>A | p.Glu90Lys | Missense | 5/9 | - |
1-11106630-G-A | MASP2 | c.395C>T | p.Ala132Val | Missense | 3/11 | - |
4-157891963-C-G | PDGFC | c.93G>C | p.Gln31His | Missense | 1/6 | - |
4-69978329-C-T | UGT2B7 | c.1465C>T | p.His489Tyr | Missense | 6/6 | - |
7-100004394-C-T | ZCWPW1 | c.1093G>A | p.Glu365Lys | Missense | 12/18 | - |
1-196295914-C-G | KCNT2 | c.2209G>C | p.Val737Leu | Missense | 19/28 | - |
20-60885127-C-T | LAMA5 | c.10745G>A | p.Arg3582Gln | Missense | 78/80 | - |
15-42731805-T-C | ZNF106 | c.3901A>G | p.Asn1301Asp | Missense | 8/19 | - |
16-56977087-G-C | HERPUD1 | c.1058G>C | p.Arg353Thr | Missense | 8/8 | - |
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 | - |
9-133948184-G-A | LAMC3 | c.3379G>A | p.Glu1127Lys | Missense | 19/28 | - |
1-227068398-G-T | PSEN2 | c.1-1211G>T | - | IntronicSNV | - | 3/12 |
3-46306765-C-G | CCR3 | c.170C>G | p.Pro57Arg | Missense | 3/3 | - |
6-32097475-T-C | FKBPL | c.83A>G | p.Asn28Ser | Missense | 2/2 | - |
3-46306765-C-T | CCR3 | c.170C>T | p.Pro57Leu | Missense | 3/3 | - |
4-57797510-A-G | REST | c.2486A>G | p.Glu829Gly | Missense | 4/4 | - |
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 | - |
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 | - |
1-22965687-C-T | C1QA | c.525C>T | p.Ile175Ile | Synonymous | 3/3 | - |
3-52543906-C-A | STAB1 | c.2368C>A | p.Leu790Ile | Missense | 23/69 | - |
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 | - |
6-32032628-C-A | TNXB | c.6811G>T | p.Val2271Leu | Missense | 19/44 | - |
6-32032628-C-G | TNXB | c.6811G>C | p.Val2271Leu | Missense | 19/44 | - |
1-120548095-C-A | NOTCH2 | c.272G>T | p.Arg91Leu | Missense | 3/34 | - |
7-150693897-G-A | NOS3 | c.466G>A | p.Glu156Lys | Missense | 5/27 | - |
7-150693897-G-C | NOS3 | c.466G>C | p.Glu156Gln | Missense | 5/27 | - |
7-80300449-T-G | CD36 | c.975T>G | p.Tyr325* | Nonsense | 10/14 | - |
11-36614521-C-G | RAG2 | c.1198G>C | p.Asp400His | Missense | 2/2 | - |
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 | - |
7-99818851-G-T | PVRIG | c.958G>T | p.Glu320* | Nonsense | 6/6 | - |
6-31930462-G-A | SKIV2L | c.1212-29G>A | - | IntronicSNV | - | 11/27 |
3-100963593-T-C | IMPG2 | c.1582A>G | p.Ile528Val | Missense | 13/19 | - |
9-101830911-A-G | COL15A1 | c.3912A>G | p.Ile1304Met | Missense | 41/42 | - |
6-30860313-A-T | DDR1 | c.1093A>T | p.Ile365Phe | Missense | 7/17 | - |
16-57394393-T-C | CCL22 | c.118T>C | p.Tyr40His | Missense | 2/3 | - |
1-94543268-C-T | ABCA4 | c.1532G>A | p.Arg511His | Missense | 11/50 | - |
16-23080653-G-C | USP31 | c.2773C>G | p.Pro925Ala | Missense | 16/16 | - |
1-103488522-C-T | COL11A1 | c.898-1197G>A | - | IntronicSNV | - | 6/64 |
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 | - |
5-124080382-T-A | ZNF608 | c.301A>T | p.Thr101Ser | Missense | 1/9 | - |
4-110663722-C-A | CFI | c.1459G>T | p.Gly487Cys | Missense | 12/13 | - |
19-10385540-A-T | ICAM1 | c.167A>T | p.Lys56Met | Missense | 2/7 | - |
6-36076169-A-G | MAPK14 | c.1028A>G | p.Asp343Gly | Missense | 12/12 | - |
6-32052255-T-C | TNXB | c.3380A>G | p.Lys1127Arg | Missense | 8/44 | - |
19-54848722-C-T | LILRA4 | c.901G>A | p.Val301Ile | Missense | 5/8 | - |
19-54848722-C-G | LILRA4 | c.901G>C | p.Val301Leu | Missense | 5/8 | - |
16-55518043-G-A | MMP2 | c.346G>A | p.Glu116Lys | Missense | 3/13 | - |
8-19818551-G-A | LPL | c.1279G>A | p.Ala427Thr | Missense | 8/10 | - |
1-176563779-G-A | PAPPA2 | c.1039G>A | p.Val347Met | Missense | 3/23 | - |
6-32150356-A-T | AGER | c.811T>A | p.Trp271Arg | Missense | 7/11 | - |
9-101894904-G-A | TGFBR1 | c.343+3522G>A | - | IntronicSNV | - | 2/7 |
15-81592384-C-T | IL16 | c.2717C>T | p.Ser906Leu | Missense | 14/19 | - |
16-66426144-G-T | CDH5 | c.1075G>T | p.Val359Phe | Missense | 7/12 | - |
1-249211096-G-A | PGBD2 | c.1-441G>A | - | IntronicSNV | - | 2/2 |
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 | - |
16-66426144-G-A | CDH5 | c.1075G>A | p.Val359Ile | 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 | - |
1-31349983-C-G | SDC3 | c.286G>C | p.Ala96Pro | Missense | 3/5 | - |
11-6422240-C-T | APBB1 | c.1651G>A | p.Val551Ile | Missense | 12/15 | - |
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 | - |
1-196706677-G-T | CFH | c.2669G>T | p.Ser890Ile | Missense | 17/22 | - |
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-A | COL18A1 | c.646+136C>A | - | IntronicSNV | - | 1/40 |
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-A | LOXL2 | c.157G>T | p.Val53Leu | Missense | 2/14 | - |
12-9013783-C-T | A2ML1 | c.3392C>T | p.Thr1131Met | Missense | 28/36 | - |
15-42740560-T-C | ZNF106 | c.2776A>G | p.Arg926Gly | Missense | 3/19 | - |
11-6423873-T-C | APBB1 | c.1187A>G | p.Asn396Ser | Missense | 7/15 | - |
1-196918738-C-T | CFHR2 | c.212C>T | p.Thr71Met | Missense | 2/5 | - |
9-135786451-G-T | TSC1 | c.1079C>A | p.Thr360Asn | Missense | 11/23 | - |
9-139841132-G-T | C8G | c.586G>T | p.Val196Phe | Missense | 6/7 | - |
2-215910574-G-A | ABCA12 | c.859C>T | p.Arg287* | Nonsense | 7/53 | - |
16-31341424-C-A | ITGAM | c.2999C>A | p.Thr1000Asn | Missense | 26/30 | - |
5-41382364-C-G | PLCXD3 | c.376G>C | p.Glu126Gln | Missense | 2/3 | - |
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 | - |
7-99757982-T-C | GAL3ST4 | c.1030A>G | p.Ser344Gly | Missense | 4/4 | - |
2-215813807-T-C | ABCA12 | c.6919A>G | p.Ile2307Val | Missense | 46/53 | - |
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 | - |
19-6734292-T-A | GPR108 | c.401A>T | p.Gln134Leu | Missense | 5/18 | - |
6-169064783-A-G | SMOC2 | c.1315A>G | p.Asn439Asp | Missense | 12/13 | - |
7-100071904-C-T | TSC22D4 | c.922G>A | p.Asp308Asn | Missense | 3/5 | - |
8-2088749-A-G | MYOM2 | c.3904A>G | p.Thr1302Ala | Missense | 33/37 | - |
8-2088749-A-T | MYOM2 | c.3904A>T | p.Thr1302Ser | Missense | 33/37 | - |
15-62214756-A-C | VPS13C | c.6686T>G | p.Ile2229Arg | Missense | 52/83 | - |
10-75675086-T-A | PLAU | c.1048T>A | p.Tyr350Asn | Missense | 10/11 | - |
12-120652725-C-T | PXN | c.1079G>A | p.Arg360Gln | Missense | 8/11 | - |
16-81324160-G-A | BCO1 | c.1622G>A | p.Cys541Tyr | Missense | 11/11 | - |
8-139164185-T-G | FAM135B | c.2533A>C | p.Ile845Leu | Missense | 13/20 | - |
16-57394360-G-T | CCL22 | c.85G>T | p.Ala29Ser | Missense | 2/3 | - |
20-60901785-G-A | LAMA5 | c.5246C>T | p.Pro1749Leu | Missense | 40/80 | - |
17-73738798-C-A | ITGB4 | c.2918C>A | p.Thr973Asn | Missense | 25/40 | - |
8-123965432-G-A | ZHX2 | c.1682G>A | p.Arg561Gln | Missense | 3/4 | - |
6-47563608-A-G | CD2AP | c.1120A>G | p.Thr374Ala | Missense | 12/18 | - |
8-23225708-C-T | LOXL2 | c.157G>A | p.Val53Met | Missense | 2/14 | - |
1-110260040-A-G | GSTM5 | c.649A>G | p.Ser217Gly | Missense | 8/8 | - |
4-110687890-G-C | CFI | c.148C>G | p.Pro50Ala | Missense | 2/13 | - |
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 | - |
1-155030364-G-A | ADAM15 | c.1454G>A | p.Gly485Glu | Missense | 14/21 | - |
15-42734481-G-A | ZNF106 | c.3484C>T | p.Pro1162Ser | Missense | 7/19 | - |
11-10500134-G-A | AMPD3 | c.310G>A | p.Asp104Asn | Missense | 3/15 | - |
16-2103368-C-T | TSC2 | c.251C>T | p.Ala84Val | Missense | 4/42 | - |
2-189864023-G-A | COL3A1 | c.2035G>A | p.Ala679Thr | Missense | 30/51 | - |
21-47552089-A-C | COL6A2 | c.2683A>C | p.Ser895Arg | Missense | 28/28 | - |
16-24202451-C-A | PRKCB | c.1763C>A | p.Pro588His | Missense | 16/17 | - |
15-89758328-A-G | RLBP1 | c.488T>C | p.Ile163Thr | Missense | 6/9 | - |
1-94476377-C-T | ABCA4 | c.5693G>A | p.Arg1898His | Missense | 40/50 | - |
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 |
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 | - |
20-60899224-G-A | LAMA5 | c.5680C>T | p.Arg1894Cys | Missense | 43/80 | - |
1-171303836-G-A | FMO4 | c.1114G>A | p.Gly372Ser | Missense | 8/10 | - |
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 | - |
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 | - |
5-40959622-C-A | C7 | c.1561C>A | p.Arg521Ser | Missense | 12/18 | - |
2-69734636-G-A | AAK1 | c.2081C>T | p.Thr694Met | Missense | 15/22 | - |
19-1057343-G-A | ABCA7 | c.4795G>A | p.Val1599Met | Missense | 35/47 | - |
10-75671356-G-T | PLAU | c.43G>T | p.Val15Leu | Missense | 2/11 | - |
10-75671356-G-A | PLAU | c.43G>A | p.Val15Met | Missense | 2/11 | - |
10-75671356-G-C | PLAU | c.43G>C | p.Val15Leu | Missense | 2/11 | - |
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 | - |
3-52546872-G-C | STAB1 | c.3056G>C | p.Arg1019Pro | Missense | 29/69 | - |
3-52546872-G-A | STAB1 | c.3056G>A | p.Arg1019His | Missense | 29/69 | - |
10-26856265-G-T | APBB1IP | c.1849G>T | p.Ala617Ser | Missense | 15/15 | - |
10-26856265-G-A | APBB1IP | c.1849G>A | p.Ala617Thr | Missense | 15/15 | - |
1-100340787-G-A | AGL | c.1160G>A | p.Arg387Gln | Missense | 9/34 | - |
13-95858806-C-T | ABCC4 | c.1141G>A | p.Val381Ile | Missense | 8/31 | - |
6-31779728-C-G | HSPA1L | c.22G>C | p.Ala8Pro | Missense | 2/2 | - |
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 | - |
6-76657130-G-A | IMPG1 | c.1945C>T | p.Leu649Phe | Missense | 14/17 | - |
20-60895865-C-G | LAMA5 | c.6578G>C | p.Arg2193Pro | Missense | 49/80 | - |
20-60895865-C-T | LAMA5 | c.6578G>A | p.Arg2193His | Missense | 49/80 | - |
7-81392140-G-A | HGF | c.137C>T | p.Ala46Val | Missense | 2/18 | - |
1-196964886-A-G | CFHR5 | c.647A>G | p.Asn216Ser | Missense | 5/10 | - |
16-31373457-C-T | ITGAX | c.1148C>T | p.Pro383Leu | Missense | 11/30 | - |
20-23030015-C-T | THBD | c.127G>A | p.Ala43Thr | Missense | 1/1 | - |
19-54848178-C-T | LILRA4 | c.1189G>A | p.Gly397Ser | Missense | 6/8 | - |
4-110682781-C-T | CFI | c.550G>A | p.Val184Met | Missense | 4/13 | - |
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-A | ERCC6 | c.400C>T | p.Arg134Trp | Missense | 2/21 | - |
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 | - |
3-93619677-C-T | PROS1 | c.698G>A | p.Arg233Lys | Missense | 7/15 | - |
17-80207454-C-T | CSNK1D | c.910G>A | p.Ala304Thr | Missense | 7/10 | - |
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 | - |
22-42523613-C-T | CYP2D6 | c.1009G>A | p.Asp337Asn | Missense | 7/9 | - |
22-31532702-A-G | PLA2G3 | c.1283T>C | p.Leu428Pro | Missense | 6/7 | - |
1-103345315-C-T | COL11A1 | c.4850G>A | p.Arg1617His | Missense | 64/65 | - |
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 | - |
8-38869207-G-A | ADAM9 | c.226G>A | p.Glu76Lys | 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 | - |
9-120476694-G-A | TLR4 | c.2288G>A | p.Arg763His | Missense | 3/3 | - |
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 | - |
8-6599270-G-A | AGPAT5 | c.584G>A | p.Arg195His | Missense | 5/8 | - |
19-10394455-G-T | ICAM1 | c.630G>T | p.Gln210His | Missense | 3/7 | - |
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 | - |
11-65636053-T-C | EFEMP2 | c.775A>G | p.Ile259Val | Missense | 8/11 | - |
6-43746949-T-C | VEGFA | c.962+294T>C | - | IntronicSNV | - | 5/7 |
4-55955969-C-T | KDR | c.3193G>A | p.Ala1065Thr | Missense | 24/30 | - |
16-53860253-G-A | FTO | c.601G>A | p.Val201Ile | Missense | 3/9 | - |
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 | - |
5-139930696-C-T | SRA1 | c.449G>A | p.Gly150Glu | Missense | 4/5 | - |
12-57585281-A-G | LRP1 | c.7415A>G | p.Asn2472Ser | Missense | 44/89 | - |
4-57830655-G-A | NOA1 | c.1802C>T | p.Pro601Leu | Missense | 6/7 | - |
6-30633261-C-T | DHX16 | c.916G>A | p.Gly306Arg | Missense | 5/20 | - |
4-57829669-G-T | NOA1 | c.2044C>A | p.Pro682Thr | Missense | 7/7 | - |
1-20302201-C-T | PLA2G2A | c.428G>A | p.Arg143His | Missense | 6/6 | - |
20-23028640-G-A | THBD | c.1502C>T | p.Pro501Leu | Missense | 1/1 | - |
20-50048830-C-T | NFATC2 | c.2496G>A | p.Met832Ile | Missense | 9/11 | - |
14-102551163-T-A | HSP90AA1 | c.836A>T | p.Lys279Met | Missense | 5/11 | - |
10-105797396-C-T | COL17A1 | c.3206G>A | p.Arg1069Gln | Missense | 46/56 | - |
10-105797396-C-A | COL17A1 | c.3206G>T | p.Arg1069Leu | Missense | 46/56 | - |
10-105797396-C-G | COL17A1 | c.3206G>C | p.Arg1069Pro | Missense | 46/56 | - |
7-95024007-G-C | PON3 | c.94C>G | p.Arg32Gly | Missense | 2/9 | - |
12-123806084-T-C | SBNO1 | c.2318A>G | p.Asn773Ser | Missense | 17/32 | - |
1-40773150-G-T | COL9A2 | c.976C>A | p.Gln326Lys | Missense | 19/32 | - |
1-40773150-G-A | COL9A2 | c.976C>T | p.Gln326* | Nonsense | 19/32 | - |
22-33059665-G-C | SYN3 | c.709-66943C>G | - | IntronicSNV | - | 6/13 |
12-57597253-G-T | LRP1 | c.10900G>T | p.Ala3634Ser | Missense | 70/89 | - |
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 | - |
5-123982685-C-G | ZNF608 | c.3392G>C | p.Ser1131Thr | Missense | 4/9 | - |
15-38228620-G-T | TMCO5A | c.96G>T | p.Gln32His | Missense | 3/12 | - |
1-186121996-C-T | HMCN1 | c.15011C>T | p.Thr5004Ile | Missense | 96/107 | - |
15-89453043-G-A | MFGE8 | c.185C>T | p.Ala62Val | Missense | 2/8 | - |
12-57598512-G-A | LRP1 | c.11174G>A | p.Gly3725Glu | Missense | 72/89 | - |
6-31747216-C-T | VARS | c.3386G>A | p.Arg1129Gln | Missense | 28/30 | - |
17-21216820-G-A | MAP2K3 | c.931G>A | p.Ala311Thr | Missense | 11/12 | - |
1-171605387-T-C | MYOC | c.1193A>G | p.Lys398Arg | Missense | 3/3 | - |
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 | - |
20-44530943-G-A | PLTP | c.1138C>T | p.Arg380Trp | Missense | 12/16 | - |
19-10385540-A-G | ICAM1 | c.167A>G | p.Lys56Arg | Missense | 2/7 | - |
11-46897434-T-C | LRP4 | c.3620A>G | p.Asn1207Ser | Missense | 26/38 | - |
1-94496039-C-T | ABCA4 | c.4297G>A | p.Val1433Ile | Missense | 29/50 | - |
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 | - |
16-53878082-G-A | FTO | c.767G>A | p.Ser256Asn | Missense | 4/9 | - |
3-39307962-C-A | CX3CR1 | c.39G>T | p.Glu13Asp | Missense | 2/2 | - |
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 | - |
15-62160901-C-T | VPS13C | c.10691G>A | p.Arg3564His | Missense | 79/83 | - |
20-60893635-C-A | LAMA5 | c.7114G>T | p.Asp2372Tyr | Missense | 53/80 | - |
12-72666650-A-T | TRHDE | c.92A>T | p.Glu31Val | Missense | 1/19 | - |
15-75012979-G-A | CYP1A1 | c.1390C>T | p.Arg464Cys | Missense | 7/7 | - |
7-99461219-G-A | CYP3A43 | c.983G>A | p.Gly328Glu | Missense | 9/10 | - |
5-37815941-C-T | GDNF | c.448G>A | p.Asp150Asn | Missense | 3/3 | - |
9-139841132-G-A | C8G | c.586G>A | p.Val196Ile | Missense | 6/7 | - |
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-C | PROS1 | c.1501T>G | p.Ser501Ala | Missense | 13/15 | - |
9-133942515-C-G | LAMC3 | c.2516C>G | p.Thr839Arg | Missense | 14/28 | - |
1-218607532-G-C | TGFB2 | c.619G>C | p.Val207Leu | Missense | 3/7 | - |
11-85779721-G-C | PICALM | c.102C>G | p.Ile34Met | Missense | 1/20 | - |
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 | - |
4-110662140-T-A | CFI | c.1661A>T | p.Glu554Val | Missense | 13/13 | - |
4-110670400-C-A | CFI | c.1122G>T | p.Trp374Cys | Missense | 10/13 | - |
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 | - |
1-196964886-A-T | CFHR5 | c.647A>T | p.Asn216Ile | Missense | 5/10 | - |
21-47402620-C-A | COL6A1 | c.170C>A | p.Ala57Asp | Missense | 2/35 | - |
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 | - |
4-110687908-C-T | CFI | c.130G>A | p.Asp44Asn | Missense | 2/13 | - |
13-111082772-G-T | COL4A2 | c.574G>T | p.Val192Phe | Missense | 9/48 | - |
1-207850900-G-C | CR1L | c.264G>C | p.Lys88Asn | Missense | 2/12 | - |
11-36615697-C-T | RAG2 | c.22G>A | p.Val8Ile | Missense | 2/2 | - |
4-110605744-A-T | MCUB | c.758A>T | p.Tyr253Phe | Missense | 6/8 | - |
1-151491836-C-A | CGN | c.841C>A | p.Arg281Arg | Synonymous | 2/21 | - |
17-48267454-G-A | COL1A1 | c.2467C>T | p.Pro823Ser | 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 | - |
2-21225912-C-A | APOB | c.12382G>T | p.Val4128Leu | Missense | 29/29 | - |
1-151502589-G-A | CGN | c.2311G>A | p.Glu771Lys | Missense | 12/21 | - |
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 | - |
10-75675086-T-C | PLAU | c.1048T>C | p.Tyr350His | Missense | 10/11 | - |
4-110662173-A-G | CFI | c.1628T>C | p.Val543Ala | Missense | 13/13 | - |
7-99473801-A-G | OR2AE1 | c.856T>C | p.Ser286Pro | Missense | 1/1 | - |
4-1806131-T-A | FGFR3 | c.1150T>A | p.Phe384Ile | Missense | 9/18 | - |
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 | - |
1-100476986-G-C | SLC35A3 | c.531G>C | 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 | - |
16-53288510-T-G | CHD9 | c.4022T>G | p.Val1341Gly | Missense | 18/39 | - |
17-61562322-T-C | ACE | c.1922-275T>C | - | IntronicSNV | - | 12/24 |
5-156918638-G-A | ADAM19 | c.2080C>T | p.Pro694Ser | Missense | 18/23 | - |
19-54844989-C-T | LILRA4 | c.1354G>A | p.Val452Met | Missense | 8/8 | - |
6-116443023-C-T | COL10A1 | c.256G>A | p.Gly86Arg | Missense | 3/3 | - |
15-62238002-G-A | VPS13C | c.4931C>T | p.Ala1644Val | Missense | 43/83 | - |
4-110681527-C-T | CFI | c.782G>A | p.Gly261Asp | Missense | 6/13 | - |
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 | - |
16-53288510-T-C | CHD9 | c.4022T>C | p.Val1341Ala | Missense | 18/39 | - |
11-27680107-G-T | BDNF | c.5C>A | p.Thr2Asn | Missense | 1/1 | - |
11-27680107-G-A | BDNF | c.5C>T | p.Thr2Ile | Missense | 1/1 | - |
7-2752065-G-C | AMZ1 | c.1050G>C | p.Ser350Ser | Synonymous | 7/7 | - |
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 | - |
7-99720002-G-T | CNPY4 | c.239G>T | p.Ser80Ile | Missense | 2/6 | - |
1-232564288-T-G | SIPA1L2 | c.4279A>C | p.Met1427Leu | Missense | 15/21 | - |
2-215815751-T-G | ABCA12 | c.6704A>C | p.Glu2235Ala | Missense | 45/53 | - |
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 | - |
7-2752196-C-G | AMZ1 | c.1181C>G | p.Pro394Arg | Missense | 7/7 | - |
22-32914209-C-A | SYN3 | c.1428G>T | p.Gln476His | Missense | 13/14 | - |
7-2752196-C-T | AMZ1 | c.1181C>T | p.Pro394Leu | Missense | 7/7 | - |
3-9974919-C-T | IL17RC | c.1760C>T | p.Ala587Val | Missense | 18/18 | - |
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 | - |
1-151491836-C-T | CGN | c.841C>T | p.Arg281Trp | Missense | 2/21 | - |
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 | - |
9-107554263-C-T | ABCA1 | c.5774G>A | p.Arg1925Gln | Missense | 43/50 | - |
2-56145071-T-C | EFEMP1 | c.246A>G | p.Glu82Glu | Synonymous | 5/12 | - |
1-183206566-G-A | LAMC2 | c.2681G>A | p.Arg894His | Missense | 18/23 | - |
22-39631786-C-T | PDGFB | c.157G>A | p.Gly53Arg | Missense | 2/7 | - |
22-31534280-G-A | PLA2G3 | c.764C>T | p.Ala255Val | Missense | 3/7 | - |
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 | - |
7-99697373-G-A | MCM7 | c.-489C>T | - | 5_prime_UTR_variant | 3/14 | - |
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 | - |
7-17379157-G-A | AHR | c.1708G>A | p.Val570Ile | Missense | 10/11 | - |
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 | - |
1-77987594-G-A | AK5 | c.1394G>A | p.Arg465Gln | Missense | 12/14 | - |
4-1809191-G-A | FGFR3 | c.*202G>A | - | 3-UTRSNV | 18/18 | - |
6-30514529-G-A | GNL1 | c.1526C>T | p.Ala509Val | Missense | 11/12 | - |
4-57797230-C-G | REST | c.2206C>G | p.Pro736Ala | Missense | 4/4 | - |
15-75043539-C-T | CYP1A2 | c.841C>T | p.Arg281Trp | Missense | 3/7 | - |
7-100420010-G-C | EPHB4 | c.691C>G | p.Pro231Ala | Missense | 4/17 | - |
21-46929372-G-A | COL18A1 | c.3883G>A | - | missense_variant | 38/41 | - |
10-124175436-G-A | PLEKHA1 | c.530G>A | p.Ser177Asn | Missense | 7/12 | - |
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 | - |
1-94528774-C-T | ABCA4 | c.1654G>A | p.Val552Ile | Missense | 12/50 | - |
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 | - |
1-151503071-G-A | CGN | c.2420G>A | p.Arg807Gln | Missense | 13/21 | - |
5-35646784-A-G | SPEF2 | c.601A>G | p.Arg201Gly | Missense | 5/10 | - |
20-60893611-C-G | LAMA5 | c.7138G>C | p.Gly2380Arg | Missense | 53/80 | - |
7-99706126-G-A | AP4M1 | c.*1621G>A | - | IntergenicSNV | 15/15 | - |
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 | - |
6-161127501-A-G | PLG | c.112A>G | p.Lys38Glu | Missense | 2/19 | - |
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 | - |
4-110682715-A-T | CFI | c.616T>A | p.Tyr206Asn | Missense | 4/13 | - |
7-99971849-A-G | PILRA | c.247A>G | p.Ser83Gly | Missense | 2/7 | - |
1-31347320-G-A | SDC3 | c.986C>T | p.Thr329Ile | Missense | 4/5 | - |
3-100016789-G-C | TBC1D23 | c.899G>C | p.Ser300Thr | Missense | 9/18 | - |
15-66813446-C-T | ZWILCH | c.650C>T | p.Thr217Ile | Missense | 7/19 | - |
20-56728632-G-T | C20orf85 | c.101G>T | p.Arg34Leu | Missense | 2/4 | - |
15-66813446-C-G | ZWILCH | c.650C>G | p.Thr217Arg | 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 | - |
20-52788189-C-G | CYP24A1 | c.470G>C | p.Arg157Pro | Missense | 3/12 | - |
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-T | CYP24A1 | c.470G>A | p.Arg157Gln | Missense | 3/12 | - |
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 | - |
19-54848144-T-A | LILRA4 | c.1223A>T | p.His408Leu | Missense | 6/8 | - |
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 | - |
21-47532093-G-A | COL6A2 | c.316G>A | p.Glu106Lys | Missense | 3/28 | - |
4-178262648-G-T | NEIL3 | c.721G>T | p.Ala241Ser | Missense | 6/10 | - |
4-84227453-C-T | HPSE | c.1109G>A | p.Gly370Asp | Missense | 10/13 | - |
15-66857141-G-A | LCTL | c.155C>T | p.Thr52Met | Missense | 3/14 | - |
4-57829669-G-A | NOA1 | c.2044C>T | p.Pro682Ser | Missense | 7/7 | - |
1-94544977-A-T | ABCA4 | c.1140T>A | p.Asn380Lys | Missense | 9/50 | - |
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 | - |
17-66871468-G-C | ABCA8 | c.4444C>G | p.Leu1482Val | Missense | 35/38 | - |
6-32188010-T-A | NOTCH4 | c.1211A>T | p.Asp404Val | Missense | 7/30 | - |
8-23082369-C-G | TNFRSF10A | c.206G>C | p.Arg69Pro | Missense | 1/10 | - |
5-41186248-A-G | C6 | c.650T>C | p.Ile217Thr | Missense | 6/18 | - |
2-21231278-G-A | APOB | c.8462C>T | p.Pro2821Leu | Missense | 26/29 | - |
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 |
13-113803236-G-A | F10 | c.872G>A | p.Arg291Gln | Missense | 8/8 | - |
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 | - |
6-161152807-G-A | PLG | c.1469G>A | p.Arg490Gln | Missense | 12/19 | - |
7-99654642-G-A | ZSCAN21 | c.13G>A | p.Val5Ile | Missense | 2/4 | - |
15-62214756-A-G | VPS13C | c.6686T>C | p.Ile2229Thr | Missense | 52/83 | - |
3-133496032-G-T | TF | c.2012G>T | p.Gly671Val | Missense | 16/17 | - |
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 | - |
8-23082477-G-A | TNFRSF10A | c.98C>T | p.Thr33Ile | Missense | 1/10 | - |
19-10398465-C-T | ICAM4 | c.648C>T | p.Leu216Leu | Synonymous | 2/3 | - |
1-20305003-G-A | PLA2G2A | c.55C>T | p.His19Tyr | Missense | 4/6 | - |
4-110670459-C-T | CFI | c.1063G>A | p.Val355Met | Missense | 10/13 | - |
6-31726056-C-T | MSH5 | c.1129C>T | p.Leu377Phe | Missense | 13/25 | - |
4-157891943-T-C | PDGFC | c.113A>G | p.Gln38Arg | Missense | 1/6 | - |
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 | - |
1-196709833-C-T | CFH | c.2867C>T | p.Thr956Met | Missense | 18/22 | - |
3-99885200-A-T | CMSS1 | c.377A>T | p.Asn126Ile | Missense | 5/10 | - |
9-6255967-G-C | IL33 | c.613-1G>C | - | IntronicSNV | - | 7/7 |
17-73733421-G-A | ITGB4 | c.2009G>A | p.Arg670His | Missense | 17/40 | - |
3-99885200-A-G | CMSS1 | c.377A>G | p.Asn126Ser | Missense | 5/10 | - |
1-103488522-C-G | COL11A1 | c.898-1197G>C | - | IntronicSNV | - | 6/64 |
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 | - |
15-66839296-G-C | ZWILCH | c.*279G>C | - | IntronicSNV | 19/19 | - |
15-66839296-G-T | ZWILCH | c.*279G>T | - | IntronicSNV | 19/19 | - |
3-52535766-C-T | STAB1 | c.328C>T | p.His110Tyr | Missense | 3/69 | - |
19-54848722-C-A | LILRA4 | c.901G>T | p.Val301Phe | Missense | 5/8 | - |
21-47544833-C-A | COL6A2 | c.1769C>A | p.Thr590Lys | Missense | 23/28 | - |
9-120470884-A-G | TLR4 | c.137A>G | p.Tyr46Cys | Missense | 2/3 | - |
1-150789884-C-T | ARNT | c.1486G>A | p.Asp496Asn | Missense | 15/21 | - |
21-46875961-G-A | COL18A1 | c.517G>A | p.Gly173Ser | Missense | 1/41 | - |
21-46875961-G-T | COL18A1 | c.517G>T | p.Gly173Cys | Missense | 1/41 | - |
13-28971113-T-C | FLT1 | c.1644A>G | p.Ile548Met | Missense | 12/30 | - |
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 | - |
6-31734385-C-A | VWA7 | c.2039G>T | p.Arg680Leu | Missense | 14/17 | - |
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 | - |
6-33156845-C-G | COL11A2 | c.353G>C | p.Arg118Pro | Missense | 3/5 | - |
7-94953733-T-C | PON1 | c.55A>G | p.Asn19Asp | Missense | 1/9 | - |
1-94487490-A-G | ABCA4 | c.4685T>C | p.Ile1562Thr | Missense | 33/50 | - |
18-50683873-G-T | DCC | c.1409G>T | p.Gly470Val | Missense | 8/29 | - |
19-10395141-G-A | ICAM1 | c.988G>A | p.Val330Met | Missense | 5/7 | - |
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 | - |
18-63525114-T-A | CDH7 | c.1298T>A | p.Val433Asp | Missense | 8/12 | - |
20-60884880-C-T | LAMA5 | c.10840G>A | p.Gly3614Arg | Missense | 79/80 | - |
20-60884880-C-G | LAMA5 | c.10840G>C | p.Gly3614Arg | Missense | 79/80 | - |
17-80320303-G-T | TEX19 | c.277G>T | p.Gly93Trp | Missense | 2/2 | - |
1-186024643-G-A | HMCN1 | c.6981G>A | p.Met2327Ile | Missense | 45/107 | - |
4-110662253-A-G | CFI | c.1548T>C | p.Gly516Gly | Synonymous | 13/13 | - |
21-47404305-T-C | COL6A1 | c.350T>C | p.Val117Ala | Missense | 3/35 | - |
10-55973755-G-A | PCDH15 | c.1039C>T | p.Leu347Phe | Missense | 10/33 | - |
6-33156845-C-T | COL11A2 | c.353G>A | p.Arg118Gln | Missense | 3/5 | - |
17-1673303-C-T | SERPINF1 | c.242C>T | p.Ser81Phe | Missense | 3/8 | - |
22-37904616-G-A | CARD10 | c.983C>T | p.Ala328Val | Missense | 5/20 | - |
6-116442686-C-A | COL10A1 | c.593G>T | p.Arg198Leu | Missense | 3/3 | - |
6-116442686-C-T | COL10A1 | c.593G>A | p.Arg198His | Missense | 3/3 | - |
22-42525089-G-C | CYP2D6 | c.451C>G | p.Gln151Glu | Missense | 3/9 | - |
18-47113165-C-T | LIPG | c.1426C>T | p.Arg476Trp | Missense | 9/10 | - |
7-2752456-C-A | AMZ1 | c.1441C>A | p.Arg481Arg | Synonymous | 7/7 | - |
17-4542349-T-C | ALOX15 | c.416A>G | p.Tyr139Cys | Missense | 3/14 | - |
1-94473287-G-A | ABCA4 | c.5908C>T | p.Leu1970Phe | Missense | 43/50 | - |
6-43571679-T-C | POLH | c.815T>C | p.Ile272Thr | Missense | 7/11 | - |
17-21203961-G-A | MAP2K3 | c.270G>A | p.Met90Ile | Missense | 4/12 | - |
20-52781100-C-T | CYP24A1 | c.735G>A | p.Met245Ile | Missense | 6/12 | - |
1-227073271-C-T | PSEN2 | c.389C>T | p.Ser130Leu | Missense | 6/13 | - |
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 | - |
1-186007990-C-T | HMCN1 | c.5881C>T | p.Leu1961Phe | Missense | 38/107 | - |
1-207647643-G-A | CR2 | c.2121G>A | p.Trp707* | Nonsense | 12/19 | - |
11-74168361-C-T | KCNE3 | c.248G>A | p.Arg83His | Missense | 3/3 | - |
2-69732797-G-C | AAK1 | c.2173C>G | p.Pro725Ala | Missense | 16/22 | - |
20-60893611-C-T | LAMA5 | c.7138G>A | p.Gly2380Ser | Missense | 53/80 | - |
7-100033038-C-T | PPP1R35 | c.707G>A | p.Arg236His | Missense | 4/4 | - |
2-228173636-A-G | COL4A3 | c.4484A>G | p.Gln1495Arg | Missense | 49/52 | - |
3-52551566-G-C | STAB1 | c.4564G>C | p.Val1522Leu | Missense | 44/69 | - |
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 | - |
1-57333311-C-A | C8A | c.107C>A | p.Ala36Glu | Missense | 2/11 | - |
15-90344348-C-A | ANPEP | c.1813G>T | p.Val605Leu | Missense | 12/21 | - |
21-47422614-G-T | COL6A1 | c.2424G>T | p.Gln808His | Missense | 33/35 | - |
1-151502487-C-T | CGN | c.2209C>T | p.Arg737Trp | Missense | 12/21 | - |
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 | - |
1-100349983-C-A | AGL | c.2522C>A | p.Ser841Tyr | Missense | 19/34 | - |
17-80203891-C-T | CSNK1D | c.1222G>A | p.Gly408Ser | Missense | 9/10 | - |
16-81303891-T-C | BCO1 | c.971T>C | p.Ile324Thr | Missense | 7/11 | - |
6-32159931-G-C | GPSM3 | c.139C>G | p.His47Asp | Missense | 6/8 | - |
10-50680959-G-A | ERCC6 | c.2825C>T | p.Thr942Met | Missense | 15/21 | - |
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 | - |
1-183102632-G-A | LAMC1 | c.3796G>A | p.Glu1266Lys | Missense | 22/28 | - |
12-125263039-C-T | SCARB1 | c.*94G>A | - | 3_prime_UTR_variant | 13/13 | - |
1-20442878-C-T | PLA2G2D | c.133G>A | p.Gly45Ser | Missense | 2/3 | - |
1-233397909-T-C | PCNX2 | c.362A>G | p.Asn121Ser | Missense | 3/34 | - |
18-34850818-C-T | CELF4 | c.1012G>A | p.Val338Met | Missense | 8/13 | - |
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 | - |
17-1674431-C-A | SERPINF1 | c.392C>A | p.Ala131Asp | Missense | 4/8 | - |
19-10397987-A-G | ICAM4 | c.299A>G | p.Gln100Arg | Missense | 1/3 | - |
1-94502756-G-A | ABCA4 | c.3758C>T | p.Thr1253Met | Missense | 25/50 | - |
6-29911284-T-C | HLA-A | c.583T>C | p.Tyr195His | Missense | 3/8 | - |
16-24202451-C-G | PRKCB | c.1763C>G | p.Pro588Arg | Missense | 16/17 | - |
6-30520367-C-T | GNL1 | c.976G>A | p.Glu326Lys | Missense | 8/12 | - |
15-90344348-C-T | ANPEP | c.1813G>A | p.Val605Ile | Missense | 12/21 | - |
4-110670416-T-G | CFI | c.1106A>C | p.Tyr369Ser | Missense | 10/13 | - |
1-100327853-A-G | AGL | c.334A>G | p.Ile112Val | Missense | 4/34 | - |
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 | - |
9-77683986-C-T | NMRK1 | c.422G>A | p.Gly141Glu | Missense | 7/9 | - |
15-75014727-G-A | CYP1A1 | c.712C>T | p.Pro238Ser | Missense | 2/7 | - |
1-183205708-G-C | LAMC2 | c.2570G>C | p.Arg857Pro | Missense | 17/23 | - |
1-183205708-G-A | LAMC2 | c.2570G>A | p.Arg857Gln | Missense | 17/23 | - |
11-114310345-C-T | REXO2 | c.95C>T | p.Ala32Val | Missense | 1/7 | - |
6-32133930-G-A | EGFL8 | c.1-13G>A | - | 5-UTRSNV | 2/9 | - |
3-171431726-C-G | PLD1 | c.868G>C | p.Glu290Gln | Missense | 9/27 | - |
20-60911434-A-C | LAMA5 | c.2285T>G | p.Phe762Cys | Missense | 18/80 | - |
20-44533618-C-T | PLTP | c.845G>A | p.Arg282Gln | Missense | 9/16 | - |
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 | - |
6-30680968-C-T | MDC1 | c.751G>A | p.Glu251Lys | Missense | 5/15 | - |
9-2643709-G-A | VLDLR | c.902G>A | p.Arg301Gln | Missense | 6/19 | - |
4-110682726-C-A | CFI | c.605G>T | p.Arg202Ile | Missense | 4/13 | - |
9-137777120-C-T | FCN2 | c.337C>T | p.His113Tyr | Missense | 5/8 | - |
1-94487404-C-T | ABCA4 | c.4771G>A | p.Gly1591Arg | Missense | 33/50 | - |
4-110685795-A-G | CFI | c.380T>C | p.Val127Ala | Missense | 3/13 | - |
10-81697811-C-T | SFTPD | c.925G>A | p.Glu309Lys | Missense | 8/8 | - |
10-81697811-C-G | SFTPD | c.925G>C | p.Glu309Gln | Missense | 8/8 | - |
3-99397141-T-C | COL8A1 | c.-129+2576T>C | - | intron_variant | - | 2/4 |
6-32007840-C-T | CYP21A2 | c.797C>T | p.Ala266Val | Missense | 7/10 | - |
18-50592531-A-T | DCC | c.1256A>T | p.Lys419Met | Missense | 7/29 | - |
18-50592531-A-G | DCC | c.1256A>G | p.Lys419Arg | Missense | 7/29 | - |
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 | - |
2-20403998-G-A | SDC1 | c.203C>T | p.Thr68Met | Missense | 4/6 | - |
6-31864410-C-T | EHMT2 | c.301G>A | p.Asp101Asn | Missense | 3/28 | - |
6-30570135-C-T | PPP1R10 | c.2291G>A | p.Ser764Asn | Missense | 19/20 | - |
21-47423475-A-G | COL6A1 | c.2635A>G | p.Ser879Gly | Missense | 35/35 | - |
7-17378917-A-G | AHR | c.1468A>G | p.Met490Val | Missense | 10/11 | - |
6-32063600-T-C | TNXB | c.2030A>G | p.Asp677Gly | Missense | 3/44 | - |
10-50679030-T-C | ERCC6 | c.3061A>G | p.Ile1021Val | Missense | 17/21 | - |
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 | - |
20-60893637-C-T | LAMA5 | c.7112G>A | p.Arg2371His | Missense | 53/80 | - |
2-215914446-C-G | ABCA12 | c.597G>C | p.Trp199Cys | Missense | 6/53 | - |
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 | - |
1-203452409-G-A | PRELP | c.97G>A | p.Gly33Arg | Missense | 2/3 | - |
16-2103389-C-T | TSC2 | c.272C>T | p.Pro91Leu | Missense | 4/42 | - |
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 | - |
19-50376237-C-A | AKT1S1 | c.376G>T | p.Asp126Tyr | Missense | 2/5 | - |
18-74728772-A-G | MBP | c.177+16T>C | - | IntronicSNV | - | 1/6 |
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 | - |
5-37816112-G-A | GDNF | c.277C>T | p.Arg93Trp | Missense | 3/3 | - |
10-105816916-C-G | COL17A1 | c.1282G>C | p.Gly428Arg | Missense | 17/56 | - |
16-56997233-G-A | CETP | c.233+197G>A | - | IntronicSNV | - | 2/15 |
4-110667561-T-G | CFI | c.1246A>C | p.Ile416Leu | Missense | 11/13 | - |
6-139694603-T-G | CITED2 | c.479A>C | p.His160Pro | Missense | 2/2 | - |
4-110687847-G-A | CFI | c.191C>T | p.Pro64Leu | Missense | 2/13 | - |
8-2005572-G-A | MYOM2 | c.370G>A | p.Asp124Asn | Missense | 4/37 | - |
9-88574781-T-C | NAA35 | c.347T>C | p.Leu116Ser | Missense | 5/23 | - |
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 | - |
1-171605478-G-A | MYOC | c.1102C>T | p.Gln368* | Nonsense | 3/3 | - |
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 | - |
15-75042492-G-A | CYP1A2 | c.413G>A | p.Arg138His | Missense | 2/7 | - |
6-7229356-G-A | RREB1 | c.1024G>A | p.Asp342Asn | Missense | 10/12 | - |
17-66878774-G-A | ABCA8 | c.3674C>T | p.Thr1225Ile | Missense | 28/38 | - |
12-57587039-G-A | LRP1 | c.7636G>A | p.Gly2546Ser | Missense | 46/89 | - |
17-66878774-G-C | ABCA8 | c.3674C>G | p.Thr1225Arg | Missense | 28/38 | - |
5-35065328-C-G | PRLR | c.1732G>C | p.Glu578Gln | Missense | 10/10 | - |
1-203452929-G-A | PRELP | c.617G>A | p.Arg206Lys | Missense | 2/3 | - |
9-123782336-G-A | C5 | c.1424C>T | p.Ala475Val | Missense | 12/41 | - |
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 | - |
5-141980317-C-G | FGF1 | c.223G>C | p.Glu75Gln | Missense | 3/4 | - |
4-128694557-G-A | SLC25A31 | c.776G>A | p.Arg259Gln | Missense | 6/6 | - |
3-48623625-C-T | COL7A1 | c.3605G>A | p.Arg1202His | Missense | 27/118 | - |
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-A | LPA | c.3770C>T | p.Thr1257Met | Missense | 23/39 | - |
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 | - |
15-89758328-A-T | RLBP1 | c.488T>A | p.Ile163Asn | Missense | 6/9 | - |
6-31734385-C-T | VWA7 | c.2039G>A | p.Arg680Gln | Missense | 14/17 | - |
19-7150532-G-A | INSR | c.2243C>T | p.Ser748Leu | Missense | 11/22 | - |
8-20005574-A-G | SLC18A1 | c.1154T>C | p.Leu385Pro | Missense | 14/17 | - |
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 | - |
6-30619226-C-G | C6orf136 | c.345C>G | p.Asp115Glu | Missense | 3/5 | - |
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 | - |
6-161011993-G-T | LPA | c.3770C>A | p.Thr1257Lys | Missense | 23/39 | - |
4-110662063-G-A | CFI | c.1738C>T | p.Gln580* | Nonsense | 13/13 | - |
22-39621819-G-A | PDGFB | c.635C>T | p.Thr212Met | Missense | 6/7 | - |
1-230979207-C-A | C1orf198 | c.820G>T | p.Ala274Ser | Missense | 3/4 | - |
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 | - |
6-32150086-C-G | AGER | c.902G>C | p.Cys301Ser | Missense | 8/11 | - |
1-230979207-C-T | C1orf198 | c.820G>A | p.Ala274Thr | Missense | 3/4 | - |
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 |
5-41155088-T-C | C6 | c.2087A>G | p.Asp696Gly | Missense | 14/18 | - |
22-38476276-C-T | SLC16A8 | c.1198+571G>A | - | IntronicSNV | - | 4/4 |
15-75015045-C-G | CYP1A1 | c.394G>C | p.Ala132Pro | Missense | 2/7 | - |
3-171394618-T-A | PLD1 | c.2002A>T | p.Ile668Phe | Missense | 18/27 | - |
10-69672479-G-A | SIRT1 | c.1606G>A | p.Glu536Lys | Missense | 8/9 | - |
15-66615250-A-G | DIS3L | c.1303A>G | p.Ile435Val | Missense | 10/17 | - |
21-46888545-G-A | COL18A1 | c.1036G>A | p.Ala346Thr | Missense | 2/41 | - |
2-165584614-T-C | COBLL1 | c.526A>G | p.Ile176Val | Missense | 4/14 | - |
1-151496718-C-T | CGN | c.1285C>T | p.Arg429Cys | Missense | 7/21 | - |
15-42448659-C-A | PLA2G4F | c.89G>T | p.Gly30Val | Missense | 1/20 | - |
4-128694706-C-T | SLC25A31 | c.925C>T | p.His309Tyr | Missense | 6/6 | - |
15-89755113-A-C | RLBP1 | c.545T>G | p.Phe182Cys | Missense | 7/9 | - |
12-7241570-C-G | C1R | c.781G>C | - | missense_variant | 6/9 | - |
12-7241570-C-A | C1R | c.781G>T | - | missense_variant | 6/9 | - |
12-7241570-C-T | C1R | c.781G>A | - | missense_variant | 6/9 | - |
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 |
4-110670750-G-A | CFI | c.949C>T | p.Arg317Trp | Missense | 9/13 | - |
8-123966052-A-G | ZHX2 | c.2302A>G | p.Thr768Ala | Missense | 3/4 | - |
1-186107048-G-A | HMCN1 | c.13868G>A | p.Arg4623Gln | Missense | 89/107 | - |
11-59940500-C-T | MS4A6A | c.736G>A | p.Val246Met | Missense | 7/7 | - |
1-230379092-A-T | GALNT2 | c.648A>T | p.Gln216His | Missense | 7/16 | - |
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 | - |
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 | - |
2-165551103-T-G | COBLL1 | c.2913A>C | p.Lys971Asn | Missense | 12/14 | - |
14-62207575-G-A | HIF1A | c.1762G>A | p.Ala588Thr | Missense | 12/15 | - |
10-98825794-C-T | SLIT1 | c.463G>A | p.Gly155Arg | Missense | 5/37 | - |
17-61574284-C-T | ACE | c.3629C>T | p.Thr1210Met | Missense | 24/25 | - |
1-207307932-G-A | C4BPA | c.1268G>A | p.Gly423Glu | Missense | 9/12 | - |
16-17292204-G-C | XYLT1 | c.1154C>G | p.Pro385Arg | Missense | 5/12 | - |
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 | - |
1-203455861-A-T | PRELP | c.1001A>T | p.Asn334Ile | Missense | 3/3 | - |
1-100349757-A-G | AGL | c.2390A>G | p.Asn797Ser | Missense | 18/34 | - |
20-44639599-C-A | MMP9 | c.559C>A | p.Leu187Ile | Missense | 4/13 | - |
4-110681766-A-G | CFI | c.685T>C | p.Cys229Arg | Missense | 5/13 | - |
11-6432427-G-A | APBB1 | c.151C>T | p.Arg51Cys | Missense | 2/15 | - |
17-73728300-G-C | ITGB4 | c.1434G>C | p.Gln478His | Missense | 12/40 | - |
5-41186186-T-G | C6 | c.712A>C | p.Asn238His | Missense | 6/18 | - |
20-23064912-T-C | CD93 | c.1918A>G | p.Met640Val | Missense | 1/2 | - |
16-17228439-C-T | XYLT1 | c.1918G>A | p.Gly640Ser | Missense | 9/12 | - |
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 | - |
22-38516893-C-T | PLA2G6 | c.1453G>A | p.Gly485Ser | Missense | 11/16 | - |
1-120458122-A-G | NOTCH2 | c.7223T>C | p.Leu2408Pro | Missense | 34/34 | - |
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 | - |
6-30680111-T-C | MDC1 | c.1608A>G | p.Ile536Met | Missense | 5/15 | - |
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 | - |
21-46876004-C-A | COL18A1 | c.560C>A | p.Thr187Asn | 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 | - |
9-6250600-G-T | IL33 | c.217+1G>T | - | IntronicSNV | - | 3/7 |
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 | - |
1-183090920-A-C | LAMC1 | c.2053A>C | p.Thr685Pro | Missense | 12/28 | - |
8-18258126-A-T | NAT2 | c.613A>T | p.Met205Leu | Missense | 2/2 | - |
22-45972941-G-A | FBLN1 | c.1925G>A | p.Arg642Gln | Missense | 16/17 | - |
22-45972941-G-T | FBLN1 | c.1925G>T | p.Arg642Leu | Missense | 16/17 | - |
20-23065584-C-T | CD93 | c.1246G>A | p.Val416Ile | Missense | 1/2 | - |
1-94543389-C-T | ABCA4 | c.1411G>A | p.Glu471Lys | Missense | 11/50 | - |
21-46932115-G-T | COL18A1 | c.4354G>T | - | missense_variant | 41/41 | - |
21-46932115-G-C | COL18A1 | c.4354G>C | - | missense_variant | 41/41 | - |
3-9965636-C-A | IL17RC | c.649C>A | p.His217Asn | Missense | 7/18 | - |
7-99802331-C-T | STAG3 | c.2884C>T | p.Arg962Trp | Missense | 27/34 | - |
6-32178570-C-T | NOTCH4 | c.2824G>A | p.Gly942Arg | Missense | 18/30 | - |
6-32041621-G-T | TNXB | c.4484C>A | p.Thr1495Lys | Missense | 12/44 | - |
12-52579331-C-T | KRT80 | c.341G>A | p.Arg114His | Missense | 2/9 | - |
1-120469147-T-C | NOTCH2 | c.3980A>G | p.Asp1327Gly | Missense | 24/34 | - |
6-70990715-C-T | COL9A1 | c.904G>A | p.Gly302Ser | Missense | 9/38 | - |
9-87338515-C-A | NTRK2 | c.611C>A | p.Pro204His | Missense | 9/15 | - |
16-76486472-A-G | CNTNAP4 | c.1136A>G | - | missense_variant | 9/25 | - |
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 | - |
10-88422062-G-T | OPN4 | c.1127G>T | p.Arg376Leu | Missense | 8/10 | - |
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 | - |
17-73728022-G-A | ITGB4 | c.1345G>A | p.Gly449Ser | Missense | 11/40 | - |
19-1059056-G-T | ABCA7 | c.5435G>T | p.Arg1812Leu | Missense | 40/47 | - |
19-1059056-G-A | ABCA7 | c.5435G>A | p.Arg1812His | Missense | 40/47 | - |
1-182026596-C-T | ZNF648 | c.550G>A | p.Ala184Thr | Missense | 2/2 | - |
6-161152206-T-A | PLG | c.1380T>A | p.Ser460Arg | Missense | 11/19 | - |
2-21225912-C-G | APOB | c.12382G>C | p.Val4128Leu | 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 | - |
15-75012979-G-T | CYP1A1 | c.1390C>A | p.Arg464Ser | Missense | 7/7 | - |
2-21238367-C-T | APOB | c.3383G>A | p.Arg1128His | Missense | 22/29 | - |
16-23200921-G-A | SCNN1G | c.547G>A | p.Gly183Ser | Missense | 3/13 | - |
1-155028450-C-A | ADAM15 | c.718C>A | p.Leu240Met | Missense | 8/21 | - |
7-94038649-G-A | COL1A2 | c.808G>A | p.Val270Ile | Missense | 17/52 | - |
6-116422098-C-A | NT5DC1 | c.5C>A | p.Ala2Asp | Missense | 1/12 | - |
22-42526712-G-A | CYP2D6 | c.82C>T | p.Arg28Cys | Missense | 1/9 | - |
22-42526712-G-T | CYP2D6 | c.82C>A | p.Arg28Ser | Missense | 1/9 | - |
4-1806629-C-T | FGFR3 | c.1345C>T | p.Pro449Ser | Missense | 10/18 | - |
12-57556205-C-T | LRP1 | c.2308C>T | p.Arg770Trp | Missense | 14/89 | - |
13-28885760-G-A | FLT1 | c.3602C>T | p.Pro1201Leu | Missense | 27/30 | - |
12-123798209-T-C | SBNO1 | c.3175A>G | p.Met1059Val | Missense | 24/32 | - |
15-42630673-A-G | GANC | c.1828A>G | p.Ile610Val | Missense | 16/24 | - |
1-196927185-G-T | CFHR2 | c.595G>T | p.Glu199* | Nonsense | 4/5 | - |
6-116325150-C-G | FRK | c.356G>C | p.Gly119Ala | Missense | 2/8 | - |
19-54848826-C-A | LILRA4 | c.797G>T | p.Arg266Leu | Missense | 5/8 | - |
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 | - |
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 | - |
3-107466840-C-T | BBX | c.779C>T | p.Ala260Val | Missense | 9/17 | - |
10-105798263-C-T | COL17A1 | c.2971G>A | p.Val991Met | Missense | 45/56 | - |
15-42568547-C-G | GANC | c.31C>G | p.Leu11Val | Missense | 2/24 | - |
15-42568547-C-A | GANC | c.31C>A | p.Leu11Ile | Missense | 2/24 | - |
3-39307927-T-C | CX3CR1 | c.74A>G | p.Asp25Gly | Missense | 2/2 | - |
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 | - |
15-66812943-C-T | ZWILCH | c.536C>T | p.Ser179Phe | Missense | 6/19 | - |
1-183177132-G-A | LAMC2 | c.196G>A | p.Glu66Lys | Missense | 2/23 | - |
7-100420010-G-A | EPHB4 | c.691C>T | p.Pro231Ser | Missense | 4/17 | - |
4-110638764-A-G | PLA2G12A | c.391T>C | p.Cys131Arg | Missense | 3/4 | - |
10-55973766-C-T | PCDH15 | c.1028G>A | p.Arg343Lys | Missense | 10/33 | - |
5-5239309-G-A | ADAMTS16 | c.2200G>A | p.Val734Ile | Missense | 15/23 | - |
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 | - |
8-2054361-C-T | MYOM2 | c.2972C>T | p.Ser991Phe | Missense | 23/37 | - |
6-30459130-A-C | HLA-E | c.827A>C | p.Gln276Pro | Missense | 4/8 | - |
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 | - |
6-161137766-G-A | PLG | c.758G>A | p.Arg253His | Missense | 7/19 | - |
4-110681679-C-T | CFI | c.772G>A | p.Ala258Thr | Missense | 5/13 | - |
9-107554263-C-A | ABCA1 | c.5774G>T | p.Arg1925Leu | Missense | 43/50 | - |
11-10327547-C-G | ADM | c.150C>G | p.Ser50Arg | Missense | 3/4 | - |
15-42643546-C-A | GANC | c.2551C>A | p.His851Asn | Missense | 23/24 | - |
6-32159674-G-A | GPSM3 | c.157C>T | p.Arg53Cys | Missense | 7/8 | - |
16-57394360-G-A | CCL22 | c.85G>A | p.Ala29Thr | Missense | 2/3 | - |
7-99706052-C-A | AP4M1 | c.*1547C>A | - | IntergenicSNV | 15/15 | - |
19-6707931-C-T | C3 | c.1855G>A | p.Val619Met | Missense | 15/41 | - |
7-150696076-G-A | NOS3 | c.859G>A | p.Asp287Asn | Missense | 8/27 | - |
6-31742367-C-T | VWA7 | c.647G>A | p.Ser216Asn | Missense | 5/17 | - |
1-20440717-C-T | PLA2G2D | c.*32G>A | - | 3-UTRSNV | 3/3 | - |
1-207818658-T-G | CR1L | c.80T>G | p.Leu27Arg | Missense | 1/12 | - |
21-47423040-A-G | COL6A1 | c.2441A>G | p.Lys814Arg | Missense | 34/35 | - |
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 | - |
4-110890274-G-A | EGF | c.1723G>A | p.Gly575Arg | Missense | 11/23 | - |
8-23058188-T-C | TNFRSF10A | c.703+12A>G | - | IntronicSNV | - | 5/9 |
8-23058188-T-A | TNFRSF10A | c.703+12A>T | - | IntronicSNV | - | 5/9 |
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 | - |
5-41176765-G-A | C6 | c.980C>T | p.Thr327Met | Missense | 8/18 | - |
2-215882749-G-T | ABCA12 | c.1765C>A | p.Pro589Thr | Missense | 14/53 | - |
15-66621382-G-A | DIS3L | c.2027G>A | p.Arg676His | Missense | 13/17 | - |
7-80292426-G-A | CD36 | c.550G>A | p.Asp184Asn | Missense | 6/14 | - |
3-9970088-C-T | IL17RC | c.932C>T | p.Ala311Val | Missense | 10/18 | - |
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 | - |
20-23065733-C-G | CD93 | c.1097G>C | p.Arg366Pro | Missense | 1/2 | - |
10-26792144-G-A | APBB1IP | c.472G>A | p.Ala158Thr | Missense | 6/15 | - |
17-48275339-G-C | COL1A1 | c.613C>G | p.Pro205Ala | Missense | 8/51 | - |
1-196965193-G-A | CFHR5 | c.832G>A | p.Gly278Ser | Missense | 6/10 | - |
6-76660397-T-C | IMPG1 | c.1706A>G | p.Lys569Arg | Missense | 13/17 | - |
16-23200963-G-A | SCNN1G | c.589G>A | p.Glu197Lys | Missense | 3/13 | - |
20-60908497-G-A | LAMA5 | c.3062C>T | p.Ala1021Val | Missense | 25/80 | - |
15-62300929-A-G | VPS13C | c.914T>C | p.Val305Ala | Missense | 12/83 | - |
19-47823149-C-G | C5AR1 | c.115C>G | p.Leu39Val | Missense | 2/2 | - |
9-136320444-G-T | ADAMTS13 | c.3287G>T | p.Arg1096Leu | Missense | 25/29 | - |
11-116661001-G-A | APOA5 | c.944C>T | p.Ala315Val | Missense | 4/4 | - |
3-171455697-G-C | PLD1 | c.145C>G | p.Pro49Ala | Missense | 2/27 | - |
6-70972993-T-C | COL9A1 | c.1349A>G | p.Glu450Gly | Missense | 19/38 | - |
15-42743265-A-G | ZNF106 | c.1136T>C | p.Leu379Pro | Missense | 2/19 | - |
1-100343254-G-C | AGL | c.1481G>C | p.Arg494Pro | Missense | 12/34 | - |
11-10514930-A-G | AMPD3 | c.1001A>G | p.Asn334Ser | Missense | 7/15 | - |
1-203452409-G-T | PRELP | c.97G>T | p.Gly33Trp | Missense | 2/3 | - |
5-75913927-C-T | F2RL2 | c.605G>A | p.Arg202Gln | Missense | 2/2 | - |
5-174869045-G-A | DRD1 | c.1058C>T | p.Ala353Val | Missense | 2/2 | - |
11-65639462-G-C | EFEMP2 | c.139C>G | p.Pro47Ala | Missense | 3/11 | - |
18-50592531-A-C | DCC | c.1256A>C | p.Lys419Thr | Missense | 7/29 | - |
6-32097421-G-A | FKBPL | c.137C>T | p.Thr46Met | Missense | 2/2 | - |
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 | - |
3-52550173-G-A | STAB1 | c.4063G>A | p.Glu1355Lys | Missense | 38/69 | - |
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 | - |
3-118624560-C-T | IGSF11 | c.586G>A | p.Val196Ile | Missense | 5/7 | - |
11-65639462-G-A | EFEMP2 | c.139C>T | p.Pro47Ser | Missense | 3/11 | - |
15-66857613-A-G | LCTL | c.91T>C | p.Ser31Pro | Missense | 2/14 | - |
4-110662068-A-G | CFI | c.1733T>C | p.Ile578Thr | Missense | 13/13 | - |
15-62212467-C-T | VPS13C | c.7147G>A | p.Val2383Ile | Missense | 55/83 | - |
12-2694651-C-T | CACNA1C | c.2449C>T | p.Pro817Ser | Missense | 17/47 | - |
9-137293514-C-T | RXRA | c.65C>T | p.Pro22Leu | Missense | 2/10 | - |
12-9346789-A-G | PZP | c.1138T>C | p.Phe380Leu | Missense | 11/36 | - |
1-227071449-G-A | PSEN2 | c.185G>A | p.Arg62His | Missense | 5/13 | - |
7-99704892-C-T | AP4M1 | c.*387C>T | - | IntergenicSNV | 15/15 | - |
10-105816916-C-T | COL17A1 | c.1282G>A | p.Gly428Ser | Missense | 17/56 | - |
12-9346789-A-T | PZP | c.1138T>A | p.Phe380Ile | Missense | 11/36 | - |
20-52774675-G-C | CYP24A1 | c.1186C>G | p.Arg396Gly | Missense | 9/12 | - |
17-37814687-G-A | STARD3 | c.446G>A | p.Cys149Tyr | Missense | 6/15 | - |
20-52774675-G-A | CYP24A1 | c.1186C>T | p.Arg396Trp | Missense | 9/12 | - |