Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-44636822-C-A | CD82 | c.337C>A | p.Leu113Met | Missense | 7/10 | - |
1-27057656-G-A | ARID1A | c.1364G>A | p.Gly455Glu | Missense | 3/20 | - |
1-27099851-C-T | ARID1A | c.3730C>T | p.Pro1244Ser | Missense | 15/20 | - |
15-66727455-G-C | MAP2K1 | c.171G>C | p.Lys57Asn | Missense | 2/11 | - |
8-95182742-C-G | CDH17 | c.949G>C | p.Gly317Arg | Missense | 9/18 | - |
17-35837062-G-C | TADA2A | c.1307G>C | p.Arg436Thr | Missense | 16/16 | - |
7-73466127-C-T | ELN | c.847C>T | p.Pro283Ser | Missense | 16/33 | - |
1-110883546-T-G | RBM15 | c.1519T>G | p.Trp507Gly | Missense | 1/3 | - |
7-73457009-G-A | ELN | c.298G>A | p.Ala100Thr | Missense | 6/33 | - |
6-151152894-G-T | PLEKHG1 | c.2647G>T | p.Asp883Tyr | Missense | 16/17 | - |
7-1522291-C-A | INTS1 | c.3594G>T | p.Lys1198Asn | Missense | 27/48 | - |
7-4011116-A-T | SDK1 | c.1733A>T | p.His578Leu | Missense | 12/45 | - |
17-7577121-G-A | TP53 | c.817C>T | p.Arg273Cys | Missense | 8/11 | - |
8-121301977-C-A | COL14A1 | c.4208C>A | p.Ser1403* | Nonsense | 34/48 | - |
7-75190671-T-A | HIP1 | c.1153A>T | p.Ser385Cys | Missense | 13/31 | - |
15-41388080-G-A | INO80 | c.190C>T | p.Gln64* | Nonsense | 3/36 | - |
2-141641494-C-T | LRP1B | c.4061G>A | p.Ser1354Asn | Missense | 25/91 | - |
2-141680578-A-G | LRP1B | c.3275T>C | p.Ile1092Thr | Missense | 21/91 | - |
1-201983140-G-A | ELF3 | c.989G>A | p.Ser330Asn | Missense | 8/9 | - |
1-27097686-T-C | ARID1A | c.3275T>C | p.Leu1092Ser | Missense | 12/20 | - |
7-1542687-T-C | INTS1 | c.199A>G | p.Ser67Gly | Missense | 3/48 | - |
20-5282862-T-A | PROKR2 | c.979A>T | p.Met327Leu | Missense | 3/3 | - |
3-58120357-A-G | FLNB | c.4529A>G | p.Lys1510Arg | Missense | 27/46 | - |
8-95183115-C-G | CDH17 | c.882G>C | p.Val294Val | Synonymous | 8/18 | - |
7-138603515-CG-TA | KIAA1549 | c.856_857delCGinsTA | p.Arg286* | Nonsense | 2/20 | - |
9-124329507-G-A | DAB2IP | c.40G>A | p.Glu14Lys | Missense | 1/17 | - |
17-35825639-C-T | TADA2A | c.817C>T | p.His273Tyr | Missense | 11/16 | - |
19-51135883-C-T | SYT3 | c.334G>A | p.Gly112Arg | Missense | 2/9 | - |
20-5294877-G-A | PROKR2 | c.139C>T | p.Arg47Trp | Missense | 2/3 | - |
19-35617610-C-T | LGI4 | c.863G>A | p.Trp288* | Nonsense | 8/9 | - |
1-27099849-A-T | ARID1A | c.3728A>T | p.Asp1243Val | Missense | 15/20 | - |
11-26568996-T-G | ANO3 | c.1188T>G | p.Phe396Leu | Missense | 12/27 | - |
5-112170745-C-T | APC | c.1841C>T | p.Ala614Val | Missense | 15/16 | - |
5-112179240-C-G | APC | c.7949C>G | p.Ala2650Gly | Missense | 16/16 | - |
11-26463544-G-C | ANO3 | c.126G>C | p.Gln42His | Missense | 2/27 | - |
13-48942710-T-G | RB1 | c.1097T>G | p.Val366Gly | Missense | 11/27 | - |
1-27023873-A-T | ARID1A | c.979A>T | p.Lys327* | Nonsense | 1/20 | - |
7-73457477-G-T | ELN | c.406G>T | p.Val136Leu | Missense | 8/33 | - |
14-68270965-T-A | ZFYVE26 | c.1288A>T | p.Arg430* | Nonsense | 9/42 | - |
3-38639357-C-G | SCN5A | c.2125G>C | p.Gly709Arg | Missense | 14/28 | - |
2-25471040-C-T | DNMT3A | c.721G>A | p.Glu241Lys | Missense | 7/23 | - |
1-27023174-C-T | ARID1A | c.280C>T | p.Pro94Ser | Missense | 1/20 | - |
12-40748190-T-A | LRRK2 | c.6666T>A | p.Gly2222Gly | Synonymous | 45/51 | - |
7-75182874-A-G | HIP1 | c.2173T>C | p.Cys725Arg | Missense | 22/31 | - |
15-41364199-T-G | INO80 | c.1453A>C | p.Asn485His | Missense | 12/36 | - |
20-30419645-G-A | MYLK2 | c.1564G>A | p.Val522Ile | Missense | 11/13 | - |
3-58140559-CTC-ATG | FLNB | c.6676_6678delCTCinsATG | p.Leu2226Met | Missense | 40/46 | - |
8-95182670-G-C | CDH17 | c.1021C>G | p.Pro341Ala | Missense | 9/18 | - |
1-27097704-A-T | ARID1A | c.3293A>T | p.Gln1098Leu | Missense | 12/20 | - |
1-27089565-A-C | ARID1A | c.2521A>C | p.Met841Leu | Missense | 8/20 | - |
9-95738639-C-T | FGD3 | c.101C>T | p.Ala34Val | Missense | 3/18 | - |
5-170148867-A-T | KCNIP1 | c.362A>T | p.Asn121Ile | Missense | 4/8 | - |
6-151054873-C-T | PLEKHG1 | c.56C>T | p.Ala19Val | Missense | 3/17 | - |
7-4026948-G-C | SDK1 | c.2125G>C | p.Glu709Gln | Missense | 14/45 | - |
3-188326976-C-T | LPP | c.457C>T | p.Pro153Ser | Missense | 6/11 | - |
7-73460523-G-A | ELN | c.547G>A | p.Gly183Ser | Missense | 11/33 | - |
7-75221832-G-A | HIP1 | c.185C>T | p.Thr62Met | Missense | 3/31 | - |
19-8190788-G-A | FBN3 | c.2719C>T | p.Arg907Trp | Missense | 22/64 | - |
7-73462841-C-T | ELN | c.754C>T | p.Pro252Ser | Missense | 15/33 | - |
17-7574003-G-A | TP53 | c.1024C>T | p.Arg342* | Nonsense | 10/11 | - |
17-7578515-T-C | TP53 | c.415A>G | p.Lys139Glu | Missense | 5/11 | - |
7-1526299-C-G | INTS1 | c.2938G>C | p.Gly980Arg | Missense | 22/48 | - |
8-131949376-C-T | ADCY8 | c.1424G>A | p.Arg475His | Missense | 5/18 | - |
17-7577056-C-G | TP53 | c.882G>C | p.Glu294Asp | Missense | 8/11 | - |
20-36784455-C-A | TGM2 | c.227G>T | p.Arg76Leu | Missense | 3/10 | - |
3-38639431-G-A | SCN5A | c.2051C>T | p.Pro684Leu | Missense | 14/28 | - |
20-30408256-G-A | MYLK2 | c.380G>A | p.Arg127Lys | Missense | 3/13 | - |
8-99440299-G-A | KCNS2 | c.92G>A | p.Arg31His | Missense | 2/2 | - |
12-52376522-C-A | ACVR1B | c.864C>A | p.Ala288Ala | Synonymous | 5/10 | - |
13-48953773-C-T | RB1 | c.1376C>T | p.Ser459Phe | Missense | 14/27 | - |
1-110884557-G-A | RBM15 | c.2530G>A | p.Glu844Lys | Missense | 1/3 | - |
1-115252231-A-T | NRAS | c.409T>A | p.Tyr137Asn | Missense | 4/7 | - |
7-75368162-G-A | HIP1 | c.77C>T | p.Ala26Val | Missense | 1/31 | - |
2-206920990-C-T | INO80D | c.896G>A | p.Arg299Gln | Missense | 4/11 | - |
15-41346188-A-G | INO80 | c.2213T>C | p.Ile738Thr | Missense | 19/36 | - |
1-236899007-C-T | ACTN2 | c.770C>T | p.Ala257Val | Missense | 8/21 | - |
8-95172324-C-T | CDH17 | c.1426G>A | p.Asp476Asn | Missense | 12/18 | - |
12-124341718-G-A | DNAH10 | c.6200G>A | p.Arg2067His | Missense | 36/78 | - |
7-73471988-C-T | ELN | c.1376C>T | p.Ala459Val | Missense | 22/33 | - |
8-88249206-G-A | CNBD1 | c.637G>A | p.Val213Met | Missense | 6/11 | - |
2-164466238-C-G | FIGN | c.2104G>C | p.Val702Leu | Missense | 3/3 | - |
5-112162849-A-C | APC | c.1453A>C | p.Met485Leu | Missense | 12/16 | - |
5-112176372-G-C | APC | c.5081G>C | p.Gly1694Ala | Missense | 16/16 | - |
1-27092764-C-A | ARID1A | c.2785C>A | p.Pro929Thr | Missense | 9/20 | - |
2-206882424-C-A | INO80D | c.1522G>T | p.Glu508* | Nonsense | 8/11 | - |
7-73474790-C-G | ELN | c.1706C>G | p.Pro569Arg | Missense | 25/33 | - |
7-73474323-G-T | ELN | c.1522G>T | p.Gly508Cys | Missense | 23/33 | - |
17-49296318-A-C | MBTD1 | c.376T>G | p.Leu126Val | Missense | 5/17 | - |
14-68220440-G-T | ZFYVE26 | c.7172C>A | p.Ala2391Asp | Missense | 39/42 | - |
2-141004693-G-T | LRP1B | c.13286C>A | p.Pro4429Gln | Missense | 87/91 | - |
7-73457469-G-T | ELN | c.398G>T | p.Gly133Val | Missense | 8/33 | - |
7-75221421-C-T | HIP1 | c.337G>A | p.Asp113Asn | Missense | 4/31 | - |
12-40728902-C-T | LRRK2 | c.5891C>T | p.Ala1964Val | Missense | 40/51 | - |
1-110882041-G-T | RBM15 | c.14G>T | p.Gly5Val | Missense | 1/3 | - |
7-75178290-G-A | HIP1 | c.2305C>T | p.Pro769Ser | Missense | 23/31 | - |
8-95178175-C-T | CDH17 | c.1096G>A | p.Asp366Asn | Missense | 10/18 | - |
6-151117016-C-T | PLEKHG1 | c.607C>T | p.Gln203* | Nonsense | 6/17 | - |
5-170148800-C-T | KCNIP1 | c.295C>T | p.Leu99Leu | Synonymous | 4/8 | - |
5-115298621-G-A | LVRN | c.307G>A | p.Val103Met | Missense | 1/20 | - |
5-32395347-C-T | ZFR | c.1897G>A | p.Glu633Lys | Missense | 11/20 | - |
20-5283234-G-A | PROKR2 | c.607C>T | p.Gln203* | Nonsense | 3/3 | - |
1-20811734-G-A | CAMK2N1 | c.139C>T | p.Leu47Leu | Synonymous | 1/2 | - |
7-73456997-G-T | ELN | c.286G>T | p.Val96Leu | Missense | 6/33 | - |
1-20810156-G-A | CAMK2N1 | c.223C>T | p.Pro75Ser | Missense | 2/2 | - |
1-156851340-G-A | NTRK1 | c.2297G>A | p.Arg766Gln | Missense | 17/17 | - |
3-38645514-C-T | SCN5A | c.1579G>A | p.Gly527Arg | Missense | 12/28 | - |
15-41379858-C-G | INO80 | c.560G>C | p.Ser187Thr | Missense | 6/36 | - |
2-25505349-A-T | DNMT3A | c.409T>A | p.Cys137Ser | Missense | 4/23 | - |
7-4009048-C-G | SDK1 | c.1706C>G | p.Thr569Ser | Missense | 11/45 | - |
1-115256500-A-C | NRAS | c.211T>G | p.Tyr71Asp | Missense | 3/7 | - |
1-27023020-G-C | ARID1A | c.126G>C | p.Ala42Ala | Synonymous | 1/20 | - |
7-73474227-G-A | ELN | c.1426G>A | p.Gly476Ser | Missense | 23/33 | - |
10-82271948-T-G | TSPAN14 | c.499T>G | p.Tyr167Asp | Missense | 6/9 | - |
8-95161052-G-A | CDH17 | c.1847C>T | p.Thr616Ile | Missense | 14/18 | - |
21-41559851-C-T | DSCAM | c.2617G>A | p.Glu873Lys | Missense | 13/33 | - |
1-27022943-C-T | ARID1A | c.49C>T | p.Pro17Ser | Missense | 1/20 | - |
21-31914024-G-T | KRTAP19-6 | c.129C>A | p.Cys43* | Nonsense | 1/1 | - |
7-138665871-G-C | KIAA1549 | c.145C>G | p.Leu49Val | Missense | 1/20 | - |
2-206870153-C-A | INO80D | c.2023G>T | p.Ala675Ser | Missense | 11/11 | - |
3-38663918-T-A | SCN5A | c.455A>T | p.Asp152Val | Missense | 4/28 | - |
8-121292323-G-A | COL14A1 | c.3631G>A | p.Glu1211Lys | Missense | 29/48 | - |
1-16475487-C-T | EPHA2 | c.209G>A | p.Cys70Tyr | Missense | 3/17 | - |
17-25967719-G-C | LGALS9 | c.253G>C | p.Glu85Gln | Missense | 3/11 | - |
7-73455576-G-T | ELN | c.227G>T | p.Gly76Val | Missense | 5/33 | - |
1-115258683-A-T | NRAS | c.99T>A | p.Asp33Glu | Missense | 2/7 | - |
2-25464475-T-C | DNMT3A | c.2038A>G | p.Lys680Glu | Missense | 17/23 | - |
12-40689336-G-T | LRRK2 | c.2986G>T | p.Asp996Tyr | Missense | 23/51 | - |
13-49039417-G-C | RB1 | c.2402G>C | p.Gly801Ala | Missense | 23/27 | - |
3-38620878-C-T | SCN5A | c.3337G>A | p.Ala1113Thr | Missense | 18/28 | - |
5-112174192-C-A | APC | c.2901C>A | p.Val967Val | Synonymous | 16/16 | - |
7-138603921-C-T | KIAA1549 | c.451G>A | p.Ala151Thr | Missense | 2/20 | - |
1-27023037-G-T | ARID1A | c.143G>T | p.Gly48Val | Missense | 1/20 | - |
7-75187034-G-A | HIP1 | c.1505C>T | p.Ala502Val | Missense | 16/31 | - |
6-151151980-A-T | PLEKHG1 | c.1733A>T | p.Glu578Val | Missense | 16/17 | - |
5-112151213-C-T | APC | c.856C>T | p.His286Tyr | Missense | 9/16 | - |
13-58207860-G-A | PCDH17 | c.1180G>A | p.Gly394Arg | Missense | 1/4 | - |
17-7577605-C-T | TP53 | c.676G>A | p.Gly226Ser | Missense | 7/11 | - |
10-101591752-C-T | ABCC2 | c.3122C>T | p.Ala1041Val | Missense | 23/32 | - |
7-73461047-C-T | ELN | c.593C>T | p.Pro198Leu | Missense | 12/33 | - |
5-170159850-A-G | KCNIP1 | c.557A>G | p.Tyr186Cys | Missense | 6/8 | - |
2-25470528-T-C | DNMT3A | c.946A>G | p.Thr316Ala | Missense | 8/23 | - |
19-8190787-C-A | FBN3 | c.2720G>T | p.Arg907Leu | Missense | 22/64 | - |
19-35616121-A-T | LGI4 | c.1590T>A | p.His530Gln | Missense | 9/9 | - |
9-133493210-G-A | FUBP3 | c.594G>A | p.Met198Ile | Missense | 8/19 | - |
1-16456034-C-A | EPHA2 | c.2720G>T | p.Arg907Leu | Missense | 16/17 | - |
7-75189111-G-A | HIP1 | c.1300C>T | p.Arg434Trp | Missense | 14/31 | - |
5-153855452-G-T | HAND1 | c.562C>A | p.Pro188Thr | Missense | 2/2 | - |
21-31852374-C-T | KRTAP19-1 | c.263G>A | p.Gly88Asp | Missense | 1/1 | - |
2-25470017-T-C | DNMT3A | c.1025A>G | p.Glu342Gly | Missense | 9/23 | - |
19-1457029-G-A | APC2 | c.994G>A | p.Ala332Thr | Missense | 9/15 | - |
7-75221706-C-A | HIP1 | c.311G>T | p.Arg104Leu | Missense | 3/31 | - |
8-95160990-C-T | CDH17 | c.1909G>A | p.Val637Met | Missense | 14/18 | - |
5-112179486-A-T | APC | c.8195A>T | p.Asp2732Val | Missense | 16/16 | - |
7-138603347-T-C | KIAA1549 | c.1025A>G | p.Tyr342Cys | Missense | 2/20 | - |
19-31769019-C-G | TSHZ3 | c.1680G>C | p.Met560Ile | Missense | 2/2 | - |
7-73471016-G-A | ELN | c.1330G>A | p.Ala444Thr | Missense | 21/33 | - |
7-73477690-G-A | ELN | c.1909G>A | p.Ala637Thr | Missense | 28/33 | - |
6-151152904-G-A | PLEKHG1 | c.2657G>A | p.Arg886His | Missense | 16/17 | - |
7-69364311-C-T | AUTS2 | c.349C>T | p.Arg117Cys | Missense | 2/18 | - |
11-26463533-T-C | ANO3 | c.115T>C | p.Cys39Arg | Missense | 2/27 | - |
2-25467195-C-G | DNMT3A | c.1680G>C | p.Val560Val | Synonymous | 15/23 | - |
1-27023835-GG-G | ARID1A | c.941delG | p.Gly314Alafs*49 | Frameshift | 1/20 | - |
7-73461095-C-A | ELN | c.641C>A | p.Pro214His | Missense | 12/33 | - |
19-8210792-C-T | FBN3 | c.380G>A | p.Gly127Glu | Missense | 5/64 | - |
2-164467966-C-T | FIGN | c.376G>A | p.Asp126Asn | Missense | 3/3 | - |
3-38645252-G-A | SCN5A | c.1841C>T | p.Pro614Leu | Missense | 12/28 | - |
15-66727495-A-G | MAP2K1 | c.211A>G | p.Ile71Val | Missense | 2/11 | - |
17-25974140-C-T | LGALS9 | c.754C>T | p.Gln252* | Nonsense | 9/11 | - |
18-24628462-C-T | CHST9 | c.127G>A | p.Val43Met | Missense | 3/6 | - |
19-8201283-C-T | FBN3 | c.1334G>A | p.Gly445Asp | Missense | 11/64 | - |
7-75192306-G-T | HIP1 | c.953C>A | p.Ala318Asp | Missense | 11/31 | - |
1-16464450-GG-G | EPHA2 | c.1213delC | p.His405Thrfs*2 | Frameshift | 5/17 | - |
7-73467505-G-A | ELN | c.962G>A | p.Gly321Asp | Missense | 18/33 | - |
3-123166420-C-T | ADCY5 | c.973G>A | p.Ala325Thr | Missense | 1/21 | - |
20-36793594-C-T | TGM2 | c.7G>A | p.Glu3Lys | Missense | 1/10 | - |
1-110883889-G-A | RBM15 | c.1862G>A | p.Trp621* | Nonsense | 1/3 | - |
1-27059210-C-T | ARID1A | c.1847C>T | p.Pro616Leu | Missense | 4/20 | - |
19-31770340-G-C | TSHZ3 | c.359C>G | p.Ala120Gly | Missense | 2/2 | - |
5-170145799-C-A | KCNIP1 | c.99C>A | p.Cys33* | Nonsense | 2/8 | - |
7-73466260-G-A | ELN | c.896G>A | p.Gly299Glu | Missense | 17/33 | - |
19-31770589-G-C | TSHZ3 | c.110C>G | p.Ala37Gly | Missense | 2/2 | - |
22-38641955-C-T | TMEM184B | c.344G>A | p.Arg115His | Missense | 3/9 | - |
8-121275226-C-T | COL14A1 | c.2989C>T | p.Pro997Ser | Missense | 24/48 | - |
X-63412530-G-A | AMER1 | c.637C>T | p.Gln213* | Nonsense | 2/2 | - |
6-36290159-G-C | C6orf222 | c.1532C>G | p.Ser511* | Nonsense | 9/12 | - |
2-206921339-C-T | INO80D | c.547G>A | p.Glu183Lys | Missense | 4/11 | - |
5-112175951-G-T | APC | c.4660G>T | p.Glu1554* | Nonsense | 16/16 | - |
1-236881174-G-T | ACTN2 | c.143G>T | p.Cys48Phe | Missense | 2/21 | - |
7-73452058-C-T | ELN | c.185C>T | p.Pro62Leu | Missense | 4/33 | - |
3-58140559-C-A | FLNB | c.6676C>A | p.Leu2226Ile | Missense | 40/46 | - |
1-27023006-G-A | ARID1A | c.112G>A | p.Glu38Lys | Missense | 1/20 | - |
1-115256466-A-G | NRAS | c.245T>C | p.Phe82Ser | Missense | 3/7 | - |
3-38674776-C-T | SCN5A | c.23G>A | p.Arg8Gln | Missense | 2/28 | - |
21-42064836-C-T | DSCAM | c.408G>A | p.Met136Ile | Missense | 3/33 | - |
17-7578200-C-T | TP53 | c.649G>A | p.Val217Met | Missense | 6/11 | - |
2-206884534-G-A | INO80D | c.1334C>T | p.Ala445Val | Missense | 7/11 | - |
8-95143107-G-A | CDH17 | c.2281C>T | p.Pro761Ser | Missense | 16/18 | - |
3-38674629-T-C | SCN5A | c.170A>G | p.Asp57Gly | Missense | 2/28 | - |
7-69064688-C-T | AUTS2 | c.49C>T | p.Arg17Trp | Missense | 1/18 | - |
3-58062952-A-G | FLNB | c.472A>G | p.Ile158Val | Missense | 2/46 | - |
9-134322013-A-G | PRRC2B | c.839A>G | p.Asp280Gly | Missense | 6/31 | - |
5-170145809-G-A | KCNIP1 | c.109G>A | p.Glu37Lys | Missense | 2/8 | - |
17-260315-G-T | C17orf97 | c.182G>T | p.Gly61Val | Missense | 1/2 | - |
2-164467285-C-A | FIGN | c.1057G>T | p.Asp353Tyr | Missense | 3/3 | - |
15-41377623-G-A | INO80 | c.817C>T | p.Leu273Leu | Synonymous | 7/36 | - |
3-188124101-G-A | LPP | c.193G>A | p.Gly65Ser | Missense | 3/11 | - |
7-73480279-G-T | ELN | c.2038G>T | p.Ala680Ser | Missense | 31/33 | - |
2-141571313-T-A | LRP1B | c.5272A>T | p.Asn1758Tyr | Missense | 32/91 | - |
1-27023064-A-G | ARID1A | c.170A>G | p.Glu57Gly | Missense | 1/20 | - |
8-121160124-C-A | COL14A1 | c.43C>A | p.Pro15Thr | Missense | 2/48 | - |
7-75192538-T-C | HIP1 | c.833A>G | p.Asn278Ser | Missense | 10/31 | - |
3-38620827-C-A | SCN5A | c.3388G>T | p.Glu1130* | Nonsense | 18/28 | - |
7-73461079-A-G | ELN | c.625A>G | p.Lys209Glu | Missense | 12/33 | - |
1-201981253-G-A | ELF3 | c.332G>A | p.Arg111His | Missense | 3/9 | - |
22-38643871-T-C | TMEM184B | c.97A>G | p.Thr33Ala | Missense | 2/9 | - |
17-263279-C-A | C17orf97 | c.645C>A | p.Phe215Leu | Missense | 2/2 | - |
2-141707920-A-G | LRP1B | c.3020T>C | p.Phe1007Ser | Missense | 20/91 | - |
8-88218339-T-C | CNBD1 | c.550T>C | p.Ser184Pro | Missense | 5/11 | - |
19-8212208-T-C | FBN3 | c.157A>G | p.Ile53Val | Missense | 2/64 | - |
17-7579497-G-A | TP53 | c.190C>T | p.Pro64Ser | Missense | 4/11 | - |
18-25532317-T-G | CDH2 | c.2521A>C | p.Lys841Gln | Missense | 16/16 | - |
9-107553269-G-C | ABCA1 | c.5861C>G | p.Ser1954* | Nonsense | 44/50 | - |
1-27056253-T-C | ARID1A | c.1249T>C | p.Tyr417His | Missense | 2/20 | - |
5-112155039-C-T | APC | c.1310C>T | p.Pro437Leu | Missense | 10/16 | - |
6-151153185-G-A | PLEKHG1 | c.2938G>A | p.Ala980Thr | Missense | 16/17 | - |
20-5294859-T-C | PROKR2 | c.157A>G | p.Lys53Glu | Missense | 2/3 | - |
5-112154870-G-A | APC | c.1141G>A | p.Ala381Thr | Missense | 10/16 | - |
8-121180469-G-A | COL14A1 | c.419G>A | p.Arg140Lys | Missense | 5/48 | - |
5-112154750-C-G | APC | c.1021C>G | p.Gln341Glu | Missense | 10/16 | - |
1-27087895-C-G | ARID1A | c.2182C>G | p.Pro728Ala | Missense | 6/20 | - |
7-75174399-C-A | HIP1 | c.2647G>T | p.Ala883Ser | Missense | 26/31 | - |
7-73459573-G-GT | ELN | c.491_492insT | p.Val165Glyfs*12 | Frameshift | 10/33 | - |
15-41366748-G-A | INO80 | c.1147C>T | p.Arg383* | Nonsense | 10/36 | - |
7-75190636-A-C | HIP1 | c.1188T>G | p.Thr396Thr | Synonymous | 13/31 | - |
12-40618947-G-T | LRRK2 | c.14G>T | p.Ser5Ile | Missense | 1/51 | - |
7-138601735-GG-TG | KIAA1549 | c.2636_2637delCCinsTG | p.Thr879Met | Missense | 2/20 | - |
3-142511694-G-A | TRPC1 | c.1364G>A | p.Trp455* | Nonsense | 8/12 | - |
7-138603410-C-T | KIAA1549 | c.962G>A | p.Arg321Lys | Missense | 2/20 | - |
3-58108833-G-A | FLNB | c.3140G>A | p.Gly1047Asp | Missense | 21/46 | - |
7-138603864-G-A | KIAA1549 | c.508C>T | p.Arg170Trp | Missense | 2/20 | - |
17-49297746-C-G | MBTD1 | c.233G>C | p.Cys78Ser | Missense | 4/17 | - |
20-5282783-C-T | PROKR2 | c.1058G>A | p.Arg353His | Missense | 3/3 | - |
3-38651287-T-A | SCN5A | c.872A>T | p.Asn291Ile | Missense | 7/28 | - |
7-73442534-C-T | ELN | c.17C>T | p.Ala6Val | Missense | 1/33 | - |
3-38674677-T-G | SCN5A | c.122A>C | p.Glu41Ala | Missense | 2/28 | - |
14-68264958-C-A | ZFYVE26 | c.2021G>T | p.Gly674Val | Missense | 11/42 | - |
8-95183101-T-C | CDH17 | c.896A>G | p.Asp299Gly | Missense | 8/18 | - |
2-164467846-T-A | FIGN | c.496A>T | p.Ser166Cys | Missense | 3/3 | - |
2-141641431-C-T | LRP1B | c.4124G>A | p.Gly1375Glu | Missense | 25/91 | - |
7-73458250-G-T | ELN | c.469G>T | p.Gly157* | Nonsense | 9/33 | - |