PMID: 35115730

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature neuroscience
Baxi, Emily G EG, Thompson, Terri T, Li, Jonathan J, Kaye, Julia A JA, Lim, Ryan G RG, Wu, Jie J, Ramamoorthy, Divya D, Lima, Leandro L, Vaibhav, Vineet V, Matlock, Andrea A, Frank, Aaron A, Coyne, Alyssa N AN, Landin, Barry B, Ornelas, Loren L, Mosmiller, Elizabeth E, Thrower, Sara S, Farr, S Michelle SM, Panther, Lindsey L, Gomez, Emilda E, Galvez, Erick E, Perez, Daniel D, Meepe, Imara I, Lei, Susan S, Mandefro, Berhan B, Trost, Hannah H, Pinedo, Louis L, Banuelos, Maria G MG, Liu, Chunyan C, Moran, Ruby R, Garcia, Veronica V, Workman, Michael M, Ho, Richie R, Wyman, Stacia S, Roggenbuck, Jennifer J, Harms, Matthew B MB, Stocksdale, Jennifer J, Miramontes, Ricardo R, Wang, Keona K, Venkatraman, Vidya V, Holewenski, Ronald R, Sundararaman, Niveda N, Pandey, Rakhi R, Manalo, Danica-Mae DM, Donde, Aneesh A, Huynh, Nhan N, Adam, Miriam M, Wassie, Brook T BT, Vertudes, Edward E, Amirani, Naufa N, Raja, Krishna K, Thomas, Reuben R, Hayes, Lindsey L, Lenail, Alex A, Cerezo, Aianna A, Luppino, Sarah S, Farrar, Alanna A, Pothier, Lindsay L, Prina, Carolyn C, Morgan, Todd T, Jamil, Arish A, Heintzman, Sarah S, Jockel-Balsarotti, Jennifer J, Karanja, Elizabeth E, Markway, Jesse J, McCallum, Molly M, Joslin, Ben B, Alibazoglu, Deniz D, Kolb, Stephen S, Ajroud-Driss, Senda S, Baloh, Robert R, Heitzman, Daragh D, Miller, Tim T, Glass, Jonathan D JD, Patel-Murray, Natasha Leanna NL, Yu, Hong H, Sinani, Ervin E, Vigneswaran, Prasha P, Sherman, Alexander V AV, Ahmad, Omar O, Roy, Promit P, Beavers, Jay C JC, Zeiler, Steven S, Krakauer, John W JW, Agurto, Carla C, Cecchi, Guillermo G, Bellard, Mary M, Raghav, Yogindra Y, Sachs, Karen K, Ehrenberger, Tobias T, Bruce, Elizabeth E, Cudkowicz, Merit E ME, Maragakis, Nicholas N, Norel, Raquel R, Van Eyk, Jennifer E JE, Finkbeiner, Steven S, Berry, James J, Sareen, Dhruv D, Thompson, Leslie M LM, Fraenkel, Ernest E, Svendsen, Clive N CN, Rothstein, Jeffrey D JD
2022-02-03

3105 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-131721127-C-T SLC22A5 c.760C>T p.R254* Nonsense 4/10 -
12-103234270-C-T PAH c.1223G>A p.R408Q Missense 12/13 -
12-111856571-G-C SH2B3 c.622G>C p.E208Q Missense 2/8 -
4-106320294-G-A PPA2 c.683C>T p.P228L Missense 8/12 -
14-94847386-G-A SERPINA1 c.739C>T p.R247C Missense 3/5 -
14-94844866-G-A SERPINA1 c.1177C>T p.P393S Missense 5/5 -
14-94849388-G-A SERPINA1 c.187C>T p.R63C Missense 2/5 -
14-94847404-T-A SERPINA1 c.721A>T p.K241* Nonsense 3/5 -
4-6303194-C-T WFS1 c.1672C>T p.R558C Missense 8/8 -
4-47663848-G-A CORIN c.1615C>T p.R539C Missense 12/22 -
12-6554611-G-A CD27 c.158G>A p.C53Y Missense 2/6 -
13-52518297-T-G ATP7B c.3191A>C p.E1064A Missense 14/21 -
14-23883310-G-A MYH7 c.5561C>T p.T1854M Missense 38/40 -
19-11231154-C-T LDLR c.2096C>T p.P699L Missense 14/18 -
17-8006708-G-A ALOXE3 c.1889C>T p.P630L Missense 15/16 -
17-40001630-G-A KLHL10 c.937G>A p.A313T Missense 3/5 -
13-28494372-C-A PDX1 c.97C>A p.P33T Missense 1/2 -
17-7127698-C-T ACADVL c.1591C>T p.R531W Missense 16/20 -
8-19809316-G-C LPL c.286G>C p.V96L Missense 3/10 -
8-19805708-G-A LPL c.106G>A p.D36N Missense 2/10 -
17-6329101-C-T AIPL1 c.834G>A p.W278* Nonsense 6/6 -
1-17371319-C-T SDHB c.137G>A p.R46Q Missense 2/8 -
X-66766162-C-T AR c.1174C>T p.P392S Missense 1/8 -
16-8905030-G-A PMM2 c.442G>A p.D148N Missense 5/8 -
18-12337348-C-T AFG3L2 c.2167G>A p.V723M Missense 16/17 -
15-89873415-G-A POLG c.752C>T p.T251I Missense 3/23 -
4-1807494-G-A FGFR3 c.1663G>A p.V555M Missense 13/18 -
1-145416320-T-A HJV c.665T>A p.I222N Missense 4/4 -
16-56868680-G-T NUP93 c.1772G>T p.G591V Missense 16/22 -
3-10108951-G-A FANCD2 c.2444G>A p.R815Q Missense 26/44 -
X-153997508-A-C DKC1 c.838A>C p.S280R Missense 9/15 -
1-94471025-C-T ABCA4 c.6119G>A p.R2040Q Missense 44/50 -
X-105279368-C-T SERPINA7 c.631G>A p.A211T Missense 3/5 -
22-29130462-TG-T CHEK2 c.247delC p.Q83Kfs*27 Frameshift 2/15 -
10-31750140-A-C ZEB1 c.233A>C p.N78T Missense 2/9 -
X-105278361-C-A SERPINA7 c.909G>T p.L303F Missense 4/5 -
22-38131357-G-T TRIOBP c.5014G>T p.G1672* Nonsense 9/24 -
12-50349360-C-T AQP2 c.785C>T p.P262L Missense 4/4 -
3-38647444-C-T SCN5A c.1336G>A p.E446K Missense 10/28 -
17-41063408-C-T G6PC1 c.1039C>T p.Q347* Nonsense 5/5 -
11-89028410-C-CT TYR c.1467dupT p.A490Cfs*20 Frameshift 5/5 -
18-21119949-T-A NPC1 c.2621A>T p.D874V Missense 18/25 -
1-172634776-A-G FASLG c.466A>G p.R156G Missense 4/4 -
17-4806322-C-T CHRNE c.37G>A p.G13R Missense 1/12 -
14-74953134-C-T NPC2 c.88G>A p.V30M Missense 2/5 -
7-144098634-G-A NOBOX c.349C>T p.R117W Missense 4/10 -
10-135180494-G-A ECHS1 c.518C>T p.A173V Missense 5/8 -
11-47364285-C-G MYBPC3 c.1468G>C p.G490R Missense 17/35 -
3-10083368-C-T FANCD2 c.757C>T p.R253* Nonsense 10/44 -
7-33066500-G-A NT5C3A c.166C>T p.R56* Nonsense 2/9 -
7-33066500-G-C NT5C3A c.166C>G p.R56G Missense 2/9 -
1-20971042-G-A PINK1 c.836G>A p.R279H Missense 4/8 -
10-13164390-C-A OPTN c.785C>A p.S262* Nonsense 8/15 -
17-18046894-G-A MYO15A c.5925G>A p.W1975* Nonsense 26/66 -
2-215928882-A-T ABCA12 c.224T>A p.L75H Missense 3/53 -
17-48246607-G-A SGCA c.739G>A p.V247M Missense 6/10 -
17-78069149-C-T CCDC40 c.2920C>T p.Q974* Nonsense 18/20 -
7-107302171-G-C SLC26A4 c.85G>C p.E29Q Missense 2/21 -
11-88911122-A-G TYR c.1A>G p.M1? Missense 1/5 -
1-156108510-C-T LMNA c.1930C>T p.R644C Missense 11/12 -
2-26644264-C-T DRC1 c.352C>T p.Q118* Nonsense 3/17 -
5-135398363-G-C TGFBI c.1998G>C p.R666S Missense 16/17 -
15-28259941-T-C OCA2 c.1025A>G p.Y342C Missense 9/24 -
11-88911363-C-T TYR c.242C>T p.P81L Missense 1/5 -
11-105950201-G-A AASDHPPT c.191G>A p.R64H Missense 2/6 -
2-44539792-T-C SLC3A1 c.1400T>C p.M467T Missense 8/10 -
14-23886504-C-A MYH7 c.4377G>T p.K1459N Missense 32/40 -
2-241816973-G-A AGXT c.866G>A p.R289H Missense 9/11 -
17-42338993-C-T SLC4A1 c.118G>A p.E40K Missense 4/20 -
12-123434446-G-A ABCB9 c.736C>T p.R246W Missense 4/12 -
11-36597187-G-A RAG1 c.2333G>A p.R778Q Missense 2/2 -
7-144098983-C-A NOBOX c.271G>T p.G91W Missense 3/10 -
1-158624528-G-T SPTA1 c.2909C>A p.A970D Missense 21/52 -
12-22035732-G-A ABCC9 c.1987C>T p.R663C Missense 16/40 -
8-43054647-G-A HGSNAT c.1843G>A p.A615T Missense 18/18 -
2-220078652-C-T ABCB6 c.1474G>A p.A492T Missense 9/19 -
1-154574541-G-C ADAR c.577C>G p.P193A Missense 2/15 -
8-133894854-C-T TG c.886C>T p.R296* Nonsense 7/48 -
1-10042688-G-A NMNAT1 c.769G>A p.E257K Missense 5/5 -
10-101565157-A-G ABCC2 c.1483A>G p.K495E Missense 11/32 -
3-7503305-G-A GRM7 c.1411G>A p.G471R Missense 7/10 -
2-110332292-C-T SEPTIN10 c.466G>A p.E156K Missense 5/11 -
6-32814909-C-T TAP1 c.2156G>A p.R659Q Missense 10/11 -
13-52534410-C-T ATP7B c.1995G>A p.M665I Missense 7/21 -
2-220075521-C-T ABCB6 c.2168G>A p.R723Q Missense 16/19 -
9-98011537-G-A FANCC c.37C>T p.Q13* Nonsense 2/15 -
1-11082509-G-T TARDBP c.1043G>T p.G348V Missense 6/6 -
4-88533540-A-T DSPP c.202A>T p.R68W Missense 4/5 -
11-71146886-C-G DHCR7 c.964-1G>C - IntronicSNV - 8/8
11-71146886-C-A DHCR7 c.964-1G>T - IntronicSNV - 8/8
5-156895736-C-A NIPAL4 c.527C>A p.A114D Missense 4/6 -
12-88477713-T-A CEP290 c.4723A>T p.K1575* Nonsense 36/54 -
16-16251599-C-T ABCC6 c.3803G>A p.R1268Q Missense 27/31 -
4-187158034-G-A KLKB1 c.428G>A p.S143N Missense 5/15 -
16-8898702-T-C PMM2 c.255+2T>C - IntronicSNV - 3/7
17-56356502-A-G MPO c.752T>C p.M251T Missense 6/12 -
17-78086728-G-A GAA c.1942G>A p.G648S Missense 14/20 -
19-33355167-C-T SLC7A9 c.313G>A p.G105R Missense 4/13 -
X-154221416-T-G F8 c.396A>C p.E132D Missense 4/26 -
4-74274452-C-T ALB c.412C>T p.R138* Nonsense 4/15 -
7-30058726-T-TG FKBP14 c.362_362dupC p.E122Rfs*7 Frameshift 3/4 -
2-220081416-G-A ABCB6 c.826C>T p.R276W Missense 3/19 -
5-131729380-G-A SLC22A5 c.1463G>A p.R488H Missense 9/10 -
11-17418602-C-T ABCC8 c.3989-9G>A - IntronicSNV - 32/38
11-17418602-C-G ABCC8 c.3989-9G>C - IntronicSNV - 32/38
1-23233346-G-A EPHB2 c.2032G>A p.D678N Missense 11/16 -
11-6645369-C-T DCHS1 c.7538G>A p.R2513H Missense 21/21 -
14-75472570-G-T EIF2B2 c.599G>T p.G200V Missense 5/8 -
1-35250943-G-A GJB3 c.580G>A p.A194T Missense 2/2 -
5-112102960-C-T APC c.295C>T p.R99W Missense 4/16 -
2-220082504-C-T ABCB6 c.575G>A p.R192Q Missense 2/19 -
2-220078006-C-T ABCB6 c.1762G>A p.G588S Missense 12/19 -
17-56348226-T-G MPO c.2031-2A>C - IntronicSNV - 11/11
3-132394747-G-A UBA5 c.1111G>A p.A371T Missense 11/12 -
3-169485336-A-G ACTRT3 c.1003T>C p.S335P Missense 2/2 -
12-57406650-T-C TAC3 c.248A>G p.H83R Missense 5/7 -
15-80472572-G-A FAH c.1062+5G>A - IntronicSNV - 12/13
1-215848678-C-T USH2A c.12575G>A p.R4192H Missense 63/72 -
4-996165-G-A IDUA c.1081G>A p.A361T Missense 8/14 -
2-219755011-T-A WNT10A c.682T>A p.F228I Missense 3/4 -
6-42935188-C-T PEX6 c.1802G>A p.R601Q Missense 8/17 -
16-5128790-C-T ALG1 c.773C>T p.S258L Missense 7/13 -
21-43808545-G-T TMPRSS3 c.413C>A p.A138E Missense 5/13 -
3-183906916-C-T ABCF3 c.1018C>T p.R340W Missense 10/21 -
12-98928103-C-T TMPO c.565+2487C>T - IntronicSNV - 3/8
17-7577138-C-T TP53 c.800G>A p.R267Q Missense 8/11 -
16-8891763-TC-T PMM2 c.24delC p.C9Afs*27 Frameshift 1/8 -
22-29121071-ATCT-A CHEK2 c.483_485delAGA p.E161del InFrameDeletion 4/15 -
19-13008638-C-T GCDH c.1204C>T p.R402W Missense 11/12 -
2-234237188-C-T SAG c.577C>T p.R193* Nonsense 8/16 -
1-46726525-C-T RAD54L c.604C>T p.R202C Missense 7/18 -
19-13007063-G-C GCDH c.680G>C p.R227P Missense 8/12 -
17-4806002-A-G CHRNE c.103T>C p.Y35H Missense 2/12 -
15-65313871-G-A MTFMT c.626C>T p.S209L Missense 4/9 -
17-56355397-G-A MPO c.995C>T p.A332V Missense 7/12 -
16-31105945-C-A VKORC1 c.106G>T p.D36Y Missense 1/3 -
2-110342776-C-T SEPTIN10 c.340G>A p.E114K Missense 4/11 -
14-94780642-A-T SERPINA6 c.344T>A p.L115H Missense 2/5 -
1-16458722-C-T EPHA2 c.2162G>A p.R721Q Missense 13/17 -
2-219754840-C-T WNT10A c.511C>T p.R171C Missense 3/4 -
9-136501834-T-C DBH c.339+2T>C - IntronicSNV - 1/11
12-103234177-C-T PAH c.1315+1G>A - IntronicSNV - 12/12
17-40693092-C-T NAGLU c.889C>T p.R297* Nonsense 5/6 -
1-94466624-C-T ABCA4 c.6320G>A p.R2107H Missense 46/50 -
15-45408056-T-C DUOXA2 c.205+2T>C - IntronicSNV - 2/5
15-72638575-C-A HEXA c.1421+1G>T - IntronicSNV - 12/13
15-72638575-C-G HEXA c.1421+1G>C - IntronicSNV - 12/13
8-43046697-G-T HGSNAT c.1209G>T p.W403C Missense 12/18 -
1-70881670-C-T CTH c.200C>T p.T67I Missense 2/12 -
1-100387136-T-TA AGL c.4529_4529dupA p.Y1510* Nonsense 34/34 -
1-94512565-C-T ABCA4 c.2828G>A p.R943Q Missense 19/50 -
6-161127501-A-G PLG c.112A>G p.K38E Missense 2/19 -
12-103248932-C-T PAH c.688G>A p.V230I Missense 6/13 -
20-35559186-A-T SAMHD1 c.602T>A p.I201N Missense 5/16 -
16-68856041-G-A CDH1 c.1849G>A p.A617T Missense 12/16 -
11-134128923-C-G ACAD8 c.512C>G p.S171C Missense 5/11 -
11-134131650-G-A ACAD8 c.958G>A p.A320T Missense 9/11 -
4-187178437-G-A KLKB1 c.1643G>A p.C548Y Missense 14/15 -
12-103234285-G-A PAH c.1208C>T p.A403V Missense 12/13 -
9-132581031-A-T TOR1A c.613T>A p.F205I Missense 3/5 -
12-103288671-A-G PAH c.194T>C p.I65T Missense 3/13 -
17-79767715-G-A GCGR c.118G>A p.G40S Missense 3/14 -
16-2348469-C-T ABCA3 c.1814G>A p.R605Q Missense 15/33 -
8-55537560-C-T RP1 c.1118C>T p.T373I Missense 4/4 -
9-100616939-C-G FOXE1 c.743C>G p.A248G Missense 1/1 -
1-21889712-G-A ALPL c.407G>A p.R136H Missense 5/12 -
21-33039600-C-T SOD1 c.269C>T p.A90V Missense 4/5 -
3-52022837-C-T ACY1 c.1057C>T p.R353C Missense 14/15 -
X-66941751-C-G AR c.2395C>G p.Q799E Missense 6/8 -
8-145107390-C-T OPLAH c.3265G>A p.V1089I Missense 23/28 -
3-43474174-C-T ANO10 c.1843G>A p.D615N Missense 12/13 -
17-59937223-G-C BRIP1 c.139C>G p.P47A Missense 3/20 -
2-38298338-C-T CYP1B1 c.1159G>A p.E387K Missense 3/3 -
11-22257752-G-T ANO5 c.692G>T p.G231V Missense 8/22 -
1-115222237-T-A AMPD1 c.959A>T p.K287I Missense 7/16 -
14-92403294-C-T FBLN5 c.376G>A p.V126M Missense 4/11 -
7-107312627-C-T SLC26A4 c.349C>T p.L117F Missense 4/21 -
5-223624-C-T SDHA c.91C>T p.R31* Nonsense 2/15 -
5-1253913-G-A TERT c.3329C>T p.T1110M Missense 16/16 -
12-64017904-C-T DPY19L2 c.869G>A p.R290H Missense 8/22 -
19-57746411-C-G AURKC c.744C>G p.Y248* Nonsense 6/7 -
1-156848918-C-T NTRK1 c.1810C>T p.H604Y Missense 15/17 -
14-75514138-C-A MLH3 c.2221G>T p.V741F Missense 2/13 -
11-2181149-C-T INS c.266G>A p.R89H Missense 3/3 -
2-10188123-C-T KLF11 c.659C>T p.T220M Missense 3/4 -
1-92941647-T-C GFI1 c.1208A>G p.K403R Missense 7/7 -
5-179260777-C-T SQSTM1 c.1160C>T p.P387L Missense 7/8 -
16-56865830-C-T NUP93 c.1162C>T p.R388W Missense 11/22 -
15-72103931-G-A NR2E3 c.227G>A p.R76Q Missense 2/9 -
X-120183030-T-G GLUD2 c.1492T>G p.S498A Missense 1/1 -
11-27680107-G-A BDNF c.5C>T p.T2I Missense 2/2 -
1-94502756-G-A ABCA4 c.3758C>T p.T1253M Missense 25/50 -
2-21229068-G-A APOB c.10672C>T p.R3558C Missense 26/29 -
7-48411787-A-C ABCA13 c.10826A>C p.H3609P Missense 33/62 -
7-48626771-C-T ABCA13 c.14527C>T p.R4843C Missense 57/62 -
2-241810850-G-C AGXT c.508G>C p.G170R Missense 4/11 -
11-36615075-G-A RAG2 c.644C>T p.T215I Missense 2/2 -
2-109545744-C-T EDAR c.266G>A p.R89H Missense 4/12 -
7-107315415-G-T SLC26A4 c.626G>T p.G209V Missense 6/21 -
7-107330570-A-G SLC26A4 c.1151A>G p.E384G Missense 10/21 -
5-73981270-T-C HEXB c.185T>C p.L62S Missense 1/14 -
11-68701332-C-A IGHMBP2 c.1488C>A p.C496* Nonsense 10/15 -
15-72642859-C-T HEXA c.805G>A p.G269S Missense 7/14 -
12-121416663-G-A HNF1A c.92G>A p.G31D Missense 1/10 -
1-94490550-C-T ABCA4 c.4594G>A p.D1532N Missense 31/50 -
12-121437407-A-G HNF1A c.1745A>G p.H582R Missense 9/10 -
12-121437410-G-A HNF1A c.1748G>A p.R583Q Missense 9/10 -
10-69881254-A-G MYPN c.59A>G p.Y20C Missense 2/20 -
11-112099388-A-G PTS c.155A>G p.N52S Missense 2/6 -
10-69961675-G-A MYPN c.3583G>A p.V1195M Missense 18/20 -
1-236911044-C-T ACTN2 c.1484C>T p.T495M Missense 13/21 -
2-98275354-G-A ACTR1B c.428C>T p.A143V Missense 5/11 -
12-103237484-G-A PAH c.1139C>T p.T380M Missense 11/13 -
21-43808633-G-A TMPRSS3 c.325C>T p.R109W Missense 5/13 -
5-56777915-C-T ACTBL2 c.620G>A p.R207Q Missense 1/1 -
13-52520508-G-A ATP7B c.2972C>T p.T991M Missense 13/21 -
13-51519581-G-A RNASEH2B c.529G>A p.A177T Missense 7/11 -
15-73616159-C-T HCN4 c.2275G>A p.V759I Missense 8/8 -
19-33350838-G-A SLC7A9 c.782C>T p.P261L Missense 8/13 -
17-61557773-A-G ACE c.731A>G p.Y244C Missense 5/25 -
1-215963510-C-T USH2A c.10073G>A p.C3358Y Missense 51/72 -
1-156107469-C-T LMNA c.1633C>T p.R545C Missense 10/12 -
7-117243663-C-T CFTR c.2735C>T p.S912L Missense 17/27 -
9-104189856-C-G ALDOB c.448G>C p.A150P Missense 5/9 -
9-104189780-G-T ALDOB c.524C>A p.A175D Missense 5/9 -
9-37783990-T-G EXOSC3 c.395A>C p.D132A Missense 2/4 -
15-72642925-G-A HEXA c.739C>T p.R247W Missense 7/14 -
4-110681527-C-T CFI c.782G>A p.G261D Missense 6/13 -
2-241808314-C-A AGXT c.32C>A p.P11H Missense 1/11 -
16-16272711-C-T ABCC6 c.2359G>A p.V787I Missense 18/31 -
4-104079848-C-T CENPE c.2797G>A p.D933N Missense 23/49 -
14-81528523-C-T TSHR c.202C>T p.P68S Missense 2/10 -
15-89866691-C-T POLG c.2209G>A p.G737R Missense 13/23 -
15-89866691-C-G POLG c.2209G>C p.G737R Missense 13/23 -
7-42007446-C-T GLI3 c.2179G>A p.G727R Missense 14/15 -
9-139569202-T-A AGPAT2 c.646A>T p.K216* Nonsense 5/6 -
7-107334918-T-G SLC26A4 c.1334T>G p.L445W Missense 11/21 -
4-89034502-G-A ABCG2 c.1147C>T p.R383C Missense 9/16 -
1-197396685-C-T CRB1 c.2230C>T p.R744* Nonsense 7/12 -
17-7906488-CCTGCTT-C GUCY2D c.129_134delTCTGCT p.L44_L45del InFrameDeletion 2/20 -
11-68562328-C-T CPT1A c.823G>A p.A275T Missense 8/19 -
11-17470143-A-G ABCC8 c.1252T>C p.C418R Missense 8/39 -
1-11082616-G-C TARDBP c.1150G>C p.G384R Missense 6/6 -
15-75185647-G-A MPI c.656G>A p.R219Q Missense 5/8 -
16-88902151-C-T GALNS c.740G>A p.G247D Missense 7/14 -
17-46024048-G-A PNPO c.686G>A p.R229Q Missense 7/7 -
17-46019139-A-T PNPO c.98A>T p.D33V Missense 1/7 -
3-57144258-T-G IL17RD c.392A>C p.K131T Missense 4/13 -
22-51063820-G-A ARSA c.1283C>T p.P428L Missense 8/8 -
3-57140161-G-A IL17RD c.572C>T p.P191L Missense 6/13 -
16-72048540-C-T DHODH c.403C>T p.R135C Missense 3/9 -
X-154091426-C-T F8 c.6506G>A p.R2169H Missense 23/26 -
1-25889633-C-A LDLRAP1 c.605C>A p.S202Y Missense 6/9 -
13-101763567-G-A NALCN c.2203C>T p.R735* Nonsense 19/44 -
7-92123810-CT-C PEX1 c.2916delA p.G973Afs*16 Frameshift 18/24 -
10-16960686-ATAACCTC-A CUBN c.6928_6934delGAGGTTA p.E2310Cfs*3 Frameshift 45/67 -
8-145740367-CA-C RECQL4 c.1573delT p.C525Afs*33 Frameshift 9/22 -
15-90174856-T-C KIF7 c.2981A>G p.Q994R Missense 15/19 -
1-52863445-C-T ORC1 c.314G>A p.R105Q Missense 4/17 -
7-92132483-T-TA PEX1 c.2097dupT p.I700Yfs*42 Frameshift 13/24 -
16-57938727-G-GC CNGB1 c.2544_2544dupG p.L849Afs*3 Frameshift 26/33 -
2-58386913-C-CTAAT FANCL c.1114_1115insATTA p.G372Dfs*2 Frameshift 14/14 -
19-57743437-TC-T AURKC c.145delC p.L49Wfs*23 Frameshift 3/7 -
17-56350827-GGGGTTGGGTTCCAT-G MPO c.1555_1568del14 p.M519Pfs*21 Frameshift 9/12 -
21-43809151-TG-T TMPRSS3 c.208delC p.H70Tfs*19 Frameshift 4/13 -
15-72638920-G-GGATA HEXA c.1274_1277dup p.Y427Ifs*5 Frameshift 11/14 -
2-15674726-G-GA NBAS c.686_686dup p.S230Qfs*4 Frameshift 9/52 -
14-23890217-C-A MYH7 c.3286G>T p.D1096Y Missense 26/40 -
10-124800121-C-T ACADSB c.443C>T p.T148I Missense 4/11 -
5-53751640-G-T HSPB3 c.21G>T p.R7S Missense 1/1 -
15-73615912-G-A HCN4 c.2522C>T p.S841L Missense 8/8 -
1-183532437-G-A NCF2 c.1183C>T p.R395W Missense 13/15 -
18-12340333-T-C AFG3L2 c.1847A>G p.Y616C Missense 15/17 -
16-3304158-C-T MEFV c.910G>A p.G304R Missense 2/10 -
14-92403402-C-T FBLN5 c.268G>A p.G90S Missense 4/11 -
11-108012373-C-T ACAT1 c.772C>T p.R258C Missense 8/12 -
1-156106048-C-T LMNA c.1201C>T p.R401C Missense 7/12 -
22-38528924-C-T PLA2G6 c.991G>A p.D331N Missense 7/17 -
9-131085426-G-C COQ4 c.202G>C p.D68H Missense 2/7 -
1-68895518-G-A RPE65 c.1543C>T p.R515W Missense 14/14 -
1-68912520-C-T RPE65 c.118G>A p.G40S Missense 3/14 -
11-124739931-C-T ROBO3 c.733C>T p.R245W Missense 4/28 -
5-35867540-C-CA IL7R c.361_361dupA p.I121Nfs*8 Frameshift 3/8 -
5-35072712-T-G PRLR c.508A>C p.I170L Missense 6/10 -
12-56118211-G-A RDH5 c.839G>A p.R280H Missense 5/5 -
8-87645092-C-T CNGB3 c.1208G>A p.R403Q Missense 11/18 -
16-31102655-G-A VKORC1 c.292C>T p.R98W Missense 3/3 -
10-48416473-C-T GDF2 c.221G>A p.G74E Missense 1/2 -
3-32181723-A-G GPD1L c.370A>G p.I124V Missense 4/8 -
2-38298092-G-A CYP1B1 c.1405C>T p.R469W Missense 3/3 -
8-105436573-G-T DPYS c.1137C>A p.S379R Missense 7/10 -
16-2329071-G-A ABCA3 c.4420C>T p.R1474W Missense 29/33 -
16-89598369-G-A SPG7 c.1045G>A p.G349S Missense 8/17 -
12-21695522-T-G GYS2 c.1553A>C p.E518A Missense 13/16 -
10-48414216-C-T GDF2 c.652G>A p.D218N Missense 2/2 -
17-48761053-G-A ABCC3 c.3890G>A p.R1297H Missense 27/31 -
22-50966041-C-T TYMP c.622G>A p.V208M Missense 5/10 -
7-40498796-C-T SUGCT c.1006C>T p.R329W Missense 11/14 -
3-32180100-G-A GPD1L c.247G>A p.E83K Missense 3/8 -
6-1611569-C-T FOXC1 c.889C>T p.P297S Missense 1/1 -
22-24896179-G-C UPB1 c.209G>C p.R70P Missense 2/10 -
22-24896224-C-A UPB1 c.254C>A p.A85E Missense 2/10 -
17-76993427-CAG-C CANT1 c.277_278delCT p.L93Vfs*89 Frameshift 3/5 -
7-6042301-G-C PMS2 c.354-34C>G - IntronicSNV - 4/14
6-10557208-C-G GCNT2 c.925+27139C>G - IntronicSNV - 3/4
6-10557208-C-T GCNT2 c.925+27139C>T - IntronicSNV - 3/4
2-58386928-G-GTAAT VRK2 c.*102_*105dup - 3-UTRInsertion 13/13 -
2-26690102-C-T OTOF c.4228-1G>A - IntronicSNV - 34/46
2-71795213-G-A DYSF c.2697+1G>A - IntronicSNV - 25/55
2-71743371-CG-C DYSF c.951+1delG - Frameshift - 9/55
2-98986540-G-A CNGA3 c.101+1G>A - IntronicSNV - 2/7
2-219679182-G-T CYP27A1 c.1263+1G>T - IntronicSNV - 7/8
2-234676583-G-T UGT1A1 c.1084+1G>T - IntronicSNV - 3/4
3-25775474-C-G NGLY1 c.1150-1G>C - IntronicSNV - 7/11
3-33156042-C-A CRTAP c.471+2C>A - IntronicSNV - 1/6
3-33156042-C-G CRTAP c.471+2C>G - IntronicSNV - 1/6
3-33156042-C-T CRTAP c.471+2C>T - IntronicSNV - 1/6
3-100988418-C-A IMPG2 c.829-1G>T - IntronicSNV - 7/18
3-120371438-C-A HGD c.342+1G>T - IntronicSNV - 5/13
3-120371438-C-T HGD c.342+1G>A - IntronicSNV - 5/13
1-46658110-T-C POMGNT1 c.1285-2A>G - IntronicSNV - 15/21
5-176829461-C-A F12 c.1681-1G>T - IntronicSNV - 13/13
5-176829461-C-G F12 c.1681-1G>C - IntronicSNV - 13/13
5-176829461-C-T F12 c.1681-1G>A - IntronicSNV - 13/13
6-70991091-A-T COL9A1 c.876+2T>A - IntronicSNV - 8/37
8-90996752-C-T NBN c.37+1G>A - IntronicSNV - 1/15
8-145541756-A-G DGAT1 c.751+2T>C - IntronicSNV - 8/16
2-26690102-C-A OTOF c.4228-1G>T - IntronicSNV - 34/46
9-271626-G-C DOCK8 c.54-1G>C - IntronicSNV - 1/47
9-271626-G-T DOCK8 c.54-1G>T - IntronicSNV - 1/47
12-48525177-G-A PFKM c.237+1G>A - IntronicSNV - 4/22
12-103234177-C-A PAH c.1315+1G>T - IntronicSNV - 12/12
12-110002982-C-T MMAB c.291-1G>A - IntronicSNV - 3/8
13-100955253-G-A PCCA c.1284+1G>A - IntronicSNV - 14/23
14-74763035-C-A ABCD4 c.542+1G>T - IntronicSNV - 5/18
14-74763035-C-T ABCD4 c.542+1G>A - IntronicSNV - 5/18
14-74947404-C-T NPC2 c.441+1G>A - IntronicSNV - 4/4
15-28200303-C-A OCA2 c.1842+1G>T - IntronicSNV - 17/23
15-28200303-C-T OCA2 c.1842+1G>A - IntronicSNV - 17/23
15-72103821-A-C NR2E3 c.119-2A>C - IntronicSNV - 1/8
17-33904914-C-A PEX12 c.126+1G>T - IntronicSNV - 1/2
17-33904914-C-T PEX12 c.126+1G>A - IntronicSNV - 1/2
17-37828497-G-A PGAP3 c.*559C>T - 3-UTRSNV 8/8 -
17-45009566-G-A GOSR2 c.336+1G>A - IntronicSNV - 4/5
19-7710082-G-C STXBP2 c.1247-1G>C - IntronicSNV - 14/18
19-11311390-A-C DOCK6 c.5939+2T>G - IntronicSNV - 46/47
19-11311390-A-G DOCK6 c.5939+2T>C - IntronicSNV - 46/47
19-13010520-A-G GCDH c.*165A>G - 3-UTRSNV 12/12 -
20-5966567-G-A MCM8 c.1954-1G>A - IntronicSNV - 15/18
21-19715821-A-C TMPRSS15 c.1428+2T>G - IntronicSNV - 12/24
22-51065593-C-T ARSA c.465+1G>A - IntronicSNV - 2/7
4-95972859-G-A BMPR1B c.1-52717G>A - IntronicSNV - 3/12
17-77755928-C-G CBX2 c.288+328C>G - IntronicSNV - 4/4
17-77755928-C-T CBX2 c.288+328C>T - IntronicSNV - 4/4
7-55270399-C-T EGFR c.3271+81C>T - IntronicSNV - 27/27
22-45958823-C-T FBLN1 c.1698-11568C>T - IntronicSNV - 14/16
17-42328579-G-A SLC4A1 c.2603C>T p.P868L Missense 19/20 -
19-5831840-C-T FUT6 c.739G>A p.E247K Missense 3/3 -
2-220077985-C-T ABCB6 c.1783G>A p.V595M Missense 12/19 -
6-10586904-C-T GCNT2 c.926-34680C>T - IntronicSNV - 3/4
3-158367833-G-A GFM1 c.689+887G>A - IntronicSNV - 5/17
10-134495372-G-T INPP5A c.307-8524G>T - IntronicSNV - 4/15
7-95814326-G-A SLC25A13 c.934-3C>T - IntronicSNV - 9/17
7-95814326-G-T SLC25A13 c.934-3C>A - IntronicSNV - 9/17
18-53070927-G-A TCF4 c.305-178C>T - IntronicSNV - 5/19
2-220075140-C-A ABCB6 c.2314G>T p.V772F Missense 17/19 -
4-89052998-G-T ABCG2 c.335C>A p.P112Q Missense 4/16 -
7-100491451-G-C ACHE c.403C>G p.P135A Missense 2/5 -
9-131107830-T-G SLC27A4 c.556+2T>G - IntronicSNV - 3/12
10-13337608-T-C PHYH c.135-2A>G - IntronicSNV - 2/8
10-124797364-G-A ACADSB c.303+1G>A - IntronicSNV - 3/10
11-6638385-C-A TPP1 c.509-1G>T - IntronicSNV - 5/12
11-6638385-C-G TPP1 c.509-1G>C - IntronicSNV - 5/12
11-6638385-C-T TPP1 c.509-1G>A - IntronicSNV - 5/12
11-67816547-G-A TCIRG1 c.1674-1G>A - IntronicSNV - 14/19
11-71906793-T-C FOLR1 c.493+2T>C - IntronicSNV - 3/3
6-135754257-C-T AHI1 c.2174G>A p.W725* Nonsense 16/29 -
2-219678877-C-T CYP27A1 c.1151C>T p.P384L Missense 6/9 -
2-227892720-C-T COL4A4 c.3979G>A p.V1327M Missense 42/48 -
10-12154929-G-A DHTKD1 c.2185G>A p.G729R Missense 13/17 -
4-187195347-G-T F11 c.403G>T p.E135* Nonsense 5/15 -
2-74177777-A-G DGUOK c.509A>G p.Q170R Missense 4/7 -
1-209799066-G-A LAMB3 c.1903C>T p.R635* Nonsense 14/23 -
2-179320828-C-T PJVK c.499C>T p.R167* Nonsense 4/7 -
2-166626727-G-A GALNT3 c.484C>T p.R162* Nonsense 2/11 -
15-43552349-C-A TGM5 c.337G>T p.G113C Missense 3/13 -
13-113773012-G-A F7 c.1025G>A p.R342Q Missense 8/8 -
2-85780566-C-T GGCX c.944G>A p.W315* Nonsense 8/15 -
13-113795286-G-A F10 c.424G>A p.E142K Missense 5/8 -
3-48628154-G-A COL7A1 c.1732C>T p.R578* Nonsense 14/119 -
19-49700017-G-A TRPM4 c.2531G>A p.G844D Missense 17/25 -
7-6045633-A-G PMS2 c.53T>C p.I18T Missense 2/15 -
19-49469093-G-A FTL c.169G>A p.E57K Missense 2/4 -
10-14968855-G-C DCLRE1C c.959C>G p.S320C Missense 11/14 -
8-95411725-T-G RAD54B c.1295A>C p.E432A Missense 8/15 -
10-50690821-G-A ERCC6 c.2081C>T p.P694L Missense 10/21 -
11-68696783-C-T IGHMBP2 c.1193C>T p.A398V Missense 8/15 -
1-46743589-C-G RAD54L c.1970C>G p.S657C Missense 17/18 -
19-45855574-G-A ERCC2 c.2083C>T p.R695C Missense 22/23 -
19-45868311-G-A ERCC2 c.466C>T p.R156* Nonsense 6/23 -
11-76869378-G-A MYO7A c.905G>A p.R302H Missense 9/49 -
19-50365057-T-TGTTGTCGATGGCGACCC PNKP c.1253_1269dup p.T424Gfs*49 frameshift_variant 14/17 -
16-89833576-G-C FANCA c.2574C>G p.S858R Missense 27/43 -
1-94543278-G-A ABCA4 c.1522C>T p.R508C Missense 11/50 -
1-94510248-C-G ABCA4 c.2971G>A p.G991R Missense 20/50 -
16-20429586-G-C ACSM5 c.410G>C p.R137P Missense 3/14 -
9-111617776-G-C ACTL7B c.435C>G p.H145Q Missense 1/1 -
9-111617776-G-T ACTL7B c.435C>A p.H145Q Missense 1/1 -
12-56487641-G-A ERBB3 c.1574G>A p.R525Q Missense 13/28 -
18-19751656-G-A GATA6 c.551G>A p.S184N Missense 2/7 -
2-234676872-C-T UGT1A1 c.1091C>T p.P364L Missense 4/5 -
1-156846289-G-T NTRK1 c.1730G>T p.G577V Missense 14/17 -
8-11405576-G-A BLK c.211G>A p.A71T Missense 4/13 -
X-55035701-C-T ALAS2 c.1676G>A p.R559H Missense 11/11 -
20-62045527-C-G KCNQ2 c.1545G>C p.E515D Missense 14/17 -
20-62045527-C-A KCNQ2 c.1545G>T p.E515D Missense 14/17 -
22-41282458-G-A XPNPEP3 c.731G>A p.R244Q Missense 4/10 -
9-104184181-G-C ALDOB c.1005C>G p.N335K Missense 9/9 -
1-45798472-T-C MUTYH c.455A>G p.Y152C Missense 7/16 -
11-47353666-G-T MYBPC3 c.3771C>A p.N1257K Missense 33/35 -
11-47363546-C-T MYBPC3 c.1786G>A p.G596R Missense 18/35 -
14-23888815-T-G MYH7 c.3730A>C p.N1244H Missense 28/40 -
14-23894555-G-A MYH7 c.2359C>T p.R787C Missense 21/40 -
13-52536002-A-T ATP7B c.1917T>A p.H639Q Missense 6/21 -
13-52536002-A-C ATP7B c.1917T>G p.H639Q Missense 6/21 -
15-48779598-C-T FBN1 c.3374G>A p.R1125Q Missense 28/66 -
11-2606484-C-T KCNQ1 c.1075C>T p.Q359* Nonsense 8/16 -
14-23897052-T-C MYH7 c.1630A>G p.T544A Missense 16/40 -
1-43296522-G-C ERMAP c.169G>C p.G57R Missense 4/12 -
14-23899076-A-G MYH7 c.1046T>C p.M349T Missense 12/40 -
14-23902299-C-T MYH7 c.339G>A p.M113I Missense 4/40 -
3-46900985-C-T MYL3 c.461G>A p.R154H Missense 4/7 -
X-38262948-G-C OTC c.618G>C p.M206I Missense 6/10 -
X-38262948-G-A OTC c.618G>A p.M206I Missense 6/10 -
X-38262948-G-T OTC c.618G>T p.M206I Missense 6/10 -
7-6036994-C-T PMS2 c.766G>A p.G256S Missense 7/15 -
7-6038849-G-A PMS2 c.595C>T p.R199C Missense 6/15 -
2-31754383-T-C SRD5A2 c.689A>G p.H230R missense_variant 5/6 -
19-38934252-C-T RYR1 c.325C>T p.R109W Missense 4/106 -
1-156104674-CGG-TGT LMNA c.718_720delCGGinsTGT p.R240C Missense 4/12 -
1-45798117-C-T MUTYH c.650G>A p.R217H Missense 9/16 -
1-12057420-G-A MFN2 c.541G>A p.V181M Missense 6/19 -
19-38937350-G-T RYR1 c.742G>T p.G248W Missense 9/106 -
1-237494193-C-T RYR2 c.184C>T p.L62F Missense 3/105 -
1-237433884-C-T RYR2 c.136C>T p.L46F Missense 2/105 -
16-2132500-G-A TSC2 c.3878G>A p.W1293* Nonsense 32/42 -
16-2132501-G-A TSC2 c.3879G>A p.W1293* Nonsense 32/42 -
1-11860307-C-T MTHFR c.548G>A p.R183Q Missense 4/12 -
1-12008092-C-T PLOD1 c.136C>T p.R46C Missense 2/19 -
1-43395326-G-A SLC2A1 c.805C>T p.R269C Missense 6/10 -
1-21546547-CCG-ACA ECE1 c.2212_2214delCGGinsTGT p.R738C Missense 19/19 -
1-21546501-G-A ECE1 c.2260C>T p.R754C Missense 19/19 -
1-23189553-G-T EPHB2 c.835G>T p.A279S Missense 4/16 -
1-24122673-C-T GALE c.956G>A p.G319E Missense 11/12 -
1-24123212-T-C GALE c.770A>G p.K257R Missense 9/12 -
1-24144010-C-G HMGCL c.208G>C p.V70L Missense 3/9 -
1-26136244-G-C SELENON c.943G>C p.G315R Missense 7/13 -
1-46655211-C-T POMGNT1 c.1814G>A p.R605H Missense 21/22 -
1-46655645-C-T POMGNT1 c.1666G>A p.D556N Missense 20/22 -
1-26139254-G-C SELENON c.1358G>C p.W453S Missense 10/13 -
1-46656396-C-T POMGNT1 c.1600G>A p.D534N Missense 18/22 -
1-47748036-G-C STIL c.1229C>G p.P410R Missense 11/17 -
1-53676037-C-T CPT2 c.691C>T p.R231W Missense 4/5 -
1-55464998-G-A BSND c.139G>A p.G47R Missense 1/4 -
1-100672060-T-A DBT c.1150A>T p.S384C Missense 9/11 -
1-94476377-C-T ABCA4 c.5693G>A p.R1898H Missense 40/50 -
1-55524222-C-T PCSK9 c.1405C>T p.R469W Missense 9/12 -
1-57406638-G-A C8B c.1282C>T p.R428* Nonsense 9/12 -
1-63872032-T-C ALG6 c.391T>C p.Y131H Missense 6/15 -
1-76198349-G-A ACADM c.139G>A p.E47K Missense 3/12 -
1-76198337-G-A ACADM c.127G>A p.E43K Missense 3/12 -
1-94520797-CAG-AAA ABCA4 c.2455_2457delCTGinsTTT p.L819F Missense 16/50 -
1-94480221-G-C ABCA4 c.5338C>G p.P1780A Missense 38/50 -
1-94487404-C-T ABCA4 c.4771G>A p.G1591R Missense 33/50 -
1-94487490-A-G ABCA4 c.4685T>C p.I1562T Missense 33/50 -
1-94495021-C-T ABCA4 c.4519G>A p.G1507R Missense 30/50 -
1-94564443-CAC-GAT ABCA4 c.673_675delGTGinsATC p.V225I Missense 6/50 -
1-161138933-C-G PPOX c.767C>G p.P256R Missense 7/13 -
1-161137805-C-G PPOX c.359C>G p.P120R Missense 5/13 -
1-94512602-C-T ABCA4 c.2791G>A p.V931M Missense 19/50 -
1-94514477-G-A ABCA4 c.2690C>T p.T897I Missense 18/50 -
1-94528142-A-C ABCA4 c.1928T>G p.V643G Missense 13/50 -
1-100672060-T-C DBT c.1150A>G p.S384G Missense 9/11 -
1-115220086-C-T AMPD1 c.1373G>A p.R425H Missense 10/16 -
1-115221116-C-A AMPD1 c.930G>T p.M310I Missense 8/16 -
1-94568686-C-T ABCA4 c.455G>A p.R152Q Missense 5/50 -
1-98293683-G-A DPYD c.220C>T p.R74* Nonsense 3/23 -
1-168014447-G-A DCAF6 c.2240G>A p.R747Q Missense 16/22 -
2-31754489-C-T SRD5A2 c.583G>A p.G195S missense_variant 5/6 -
2-44507944-AGA-TGG SLC3A1 c.520_522delAGAinsTGG p.R174W Missense 2/10 -
2-44539746-C-T SLC3A1 c.1354C>T p.R452W Missense 8/10 -
2-44502921-CGC-TGG SLC3A1 c.247_249delCGCinsTGG p.R83W Missense 1/10 -
2-47273468-A-G TTC7A c.1817A>G p.K606R Missense 16/20 -
2-47277182-T-C TTC7A c.2014T>C p.S672P Missense 17/20 -
2-47221604-T-C TTC7A c.952T>C p.S318P Missense 7/20 -
2-47278953-T-C TTC7A c.2086T>C p.S696P Missense 18/20 -
2-55408742-C-T CLHC1 c.1145G>A p.R382Q Missense 10/13 -
2-55874559-C-T PNPT1 c.1525G>A p.V509I Missense 19/28 -
2-58388659-C-CATTA FANCL c.1017_1018insTAAT p.E340* Nonsense 12/14 -
2-152357937-G-A NEB c.23989C>T p.R7997* Nonsense 168/182 -
2-166797556-T-A TTC21B c.691A>T p.T231S Missense 6/29 -
2-166847979-T-C SCN1A c.5806A>G p.K1936E Missense 29/29 -
2-170068598-C-T LRP2 c.6160G>A p.D2054N Missense 37/79 -
2-178879181-G-A PDE11A c.919C>T p.R307* Nonsense 2/20 -
2-179424743-G-A TTN c.86116C>T p.R28706* Nonsense 326/363 -
2-179500233-C-T TTN c.41818G>A p.E13940K Missense 227/363 -
2-179442805-C-T TTN c.68437G>A p.E22813K Missense 322/363 -
2-227872828-G-A COL4A4 c.4715C>T p.P1572L Missense 47/48 -
2-228176554-C-T COL4A3 c.4981C>T p.R1661C Missense 52/52 -
2-233388180-G-T PRSS56 c.904G>T p.V302F Missense 8/13 -
2-233398797-G-A CHRND c.1204G>A p.E402K Missense 10/12 -
2-234669457-T-A UGT1A1 c.524T>A p.L175Q Missense 1/5 -
2-234669607-T-G UGT1A1 c.674T>G p.V225G Missense 1/5 -
3-32169650-G-A GPD1L c.130G>A p.E44K Missense 2/8 -
3-33109737-G-A GLB1 c.442C>T p.R148C Missense 4/16 -
3-38518844-G-A ACVR2B c.119G>A p.R40H Missense 2/11 -
3-38592885-T-C SCN5A c.4975A>G p.I1659V Missense 28/28 -
3-38592936-T-C SCN5A c.4924A>G p.I1642V Missense 28/28 -
3-38603947-G-A SCN5A c.3919C>T p.L1307F Missense 22/28 -
3-38607975-CAG-AAA SCN5A c.3760_3762delCTGinsTTT p.L1254F Missense 21/28 -
3-39307160-C-T CX3CR1 c.841G>A p.V281I Missense 2/2 -
3-43607165-C-T ANO10 c.1273G>A p.D425N Missense 8/13 -
3-48603736-G-A COL7A1 c.8371C>T p.R2791W Missense 114/119 -
3-133476698-A-G TF c.956A>G p.H319R Missense 8/17 -
3-133496032-G-A TF c.2012G>A p.G671E Missense 16/17 -
3-135975430-C-T PCCB c.337C>T p.R113* Nonsense 3/15 -
3-139071543-C-T MRPS22 c.787C>T p.R263C Missense 6/8 -
3-148714111-G-C GYG1 c.166G>C p.D56H Missense 3/8 -
3-148896396-C-G CP c.2684G>C p.G895A Missense 16/19 -
3-165548187-G-A BCHE c.635C>T p.A212V Missense 2/4 -
1-147380823-T-G GJA8 c.741T>G p.I247M Missense 2/2 -
1-152285144-G-A FLG c.2218C>T p.R740* Nonsense 3/3 -
1-152286299-G-A FLG c.1063C>T p.Q355* Nonsense 3/3 -
1-152287839-C-A FLG c.94G>T p.E32* Nonsense 2/3 -
1-155264517-C-A PKLR c.721G>T p.E241* Nonsense 6/11 -
1-156146640-G-A SEMA4A c.2138G>A p.R713Q Missense 15/15 -
1-158632583-G-T SPTA1 c.2373C>A p.D791E Missense 17/52 -
1-160011281-G-A KCNJ10 c.1042C>T p.R348C Missense 2/2 -
1-198723433-T-C PTPRC c.3545T>C p.L1182S Missense 32/33 -
1-201337340-G-A TNNT2 c.113C>T p.A38V Missense 6/17 -
1-216371836-C-A USH2A c.3902G>T p.G1301V Missense 18/72 -
1-220311332-G-A IARS2 c.2122G>A p.E708K Missense 17/23 -
1-231406597-A-G GNPAT c.1373A>G p.D458G Missense 10/16 -
1-231408061-A-G GNPAT c.1526A>G p.D509G Missense 11/16 -
1-236998886-G-C MTR c.1228G>C p.A410P Missense 14/33 -
2-26705384-G-T OTOF c.1469C>A p.P490Q Missense 14/47 -
1-237058770-C-T MTR c.3518C>T p.P1173L Missense 31/33 -
1-237729972-C-T RYR2 c.3320C>T p.T1107M Missense 28/105 -
2-1491613-C-T TPO c.1618C>T p.R540* Nonsense 10/17 -
2-1497783-C-G TPO c.1978C>G p.Q660E Missense 11/17 -
2-26688886-C-T OTOF c.4559G>A p.R1520Q Missense 37/47 -
2-26700309-C-T OTOF c.2381G>A p.R794H Missense 20/47 -
2-65237863-G-A SLC1A4 c.766G>A p.E256K Missense 4/8 -
2-71058878-A-G CD207 c.790T>C p.W264R Missense 5/6 -
2-71337204-G-A MCEE c.427C>T p.R143C Missense 3/3 -
2-71357342-CG-TA MCEE c.7_8delCGinsTA p.R3* Nonsense 1/3 -
2-71351575-G-A MCEE c.139C>T p.R47* Nonsense 2/3 -
2-71738977-G-A DYSF c.386G>A p.G129E Missense 5/56 -
2-71827854-G-A DYSF c.3779G>A p.R1260H Missense 34/56 -
2-71829924-A-G DYSF c.3946A>G p.I1316V Missense 36/56 -
2-179571356-G-A TTN c.29245C>T p.Q9749* Nonsense 102/363 -
2-71883359-A-C DYSF c.4694A>C p.K1565T Missense 43/56 -
2-71896321-G-A DYSF c.5626G>A p.D1876N Missense 50/56 -
2-74691832-G-A MOGS c.370C>T p.Q124* Nonsense 2/4 -
2-84670490-C-T SUCLG1 c.236G>A p.G79D Missense 3/9 -
2-96930912-C-T TMEM127 c.208G>A p.D70N Missense 2/4 -
2-113819727-C-T IL36RN c.142C>T p.R48W Missense 4/5 -
2-128179014-G-A PROC c.226G>A p.V76M Missense 3/9 -
2-179456541-T-C TTN c.60005A>G p.D20002G Missense 303/363 -
2-182423344-G-A CERKL c.769C>T p.R257* Nonsense 5/13 -
2-189963479-C-T COL5A2 c.376G>A p.G126S Missense 5/54 -
2-202598100-T-A ALS2 c.2479A>T p.T827S Missense 13/34 -
2-211465360-C-T CPS1 c.1631C>T p.T544M Missense 15/38 -
2-215813331-C-T ABCA12 c.7093G>A p.D2365N Missense 47/53 -
2-219526006-C-T BCS1L c.296C>T p.P99L Missense 2/8 -
2-219526571-C-T BCS1L c.550C>T p.R184C Missense 4/8 -
2-219678910-G-A CYP27A1 c.1184G>A p.R395H Missense 6/9 -
2-219679439-C-G CYP27A1 c.1435C>G p.R479G Missense 8/9 -
2-219747090-C-A WNT10A c.321C>A p.C107* Nonsense 2/4 -
2-219754966-G-A WNT10A c.637G>A p.G213S Missense 3/4 -
2-219754978-G-A WNT10A c.649G>A p.D217N Missense 3/4 -
2-219757826-A-C WNT10A c.1087A>C p.N363H Missense 4/4 -
2-238242176-G-C COL6A3 c.9245C>G p.P3082R Missense 42/44 -
2-238245116-G-C COL6A3 c.8627C>G p.P2876R Missense 40/44 -
2-238280504-C-T COL6A3 c.4156G>A p.E1386K Missense 9/44 -
2-241808753-G-A AGXT c.332G>A p.R111Q Missense 2/11 -
3-9932435-CCGGCACCGA-C JAGN1 c.35_43delCCGACGGCA p.T12_G14del InFrameDeletion 1/2 -
3-9971557-C-T IL17RC c.1132C>T p.Q378* Nonsense 13/19 -
3-9970030-C-T IL17RC c.919C>T p.Q307* Nonsense 11/19 -
3-9979308-G-A CRELD1 c.320G>A p.R107H Missense 4/11 -
3-14200382-G-T XPC c.1001C>A p.P334H Missense 9/16 -
3-48621017-G-A COL7A1 c.4373C>T p.P1458L Missense 41/119 -
3-49160649-G-T LAMB2 c.4140C>A p.N1380K Missense 26/32 -
3-49568275-G-A DAG1 c.331G>A p.D111N Missense 3/3 -
3-170198680-C-A SLC7A14 c.1391G>T p.C464F Missense 7/8 -
3-172737276-C-T SPATA16 c.848G>A p.R283Q Missense 4/11 -
1-115226899-C-A AMPD1 c.567G>T p.Q156H Missense 5/16 -
3-181430719-G-A SOX2 c.571G>A p.A191T Missense 1/1 -
3-183854445-G-A EIF2B5 c.241G>A p.E81K Missense 2/16 -
1-115226911-C-A AMPD1 c.555G>T p.Q152H Missense 5/16 -
1-115226911-C-G AMPD1 c.456G>C p.Q152H Missense 5/16 -
1-116275561-G-C CASQ2 c.567C>G p.F189L Missense 5/11 -
1-120286529-G-A PHGDH c.1468G>A p.V490M Missense 12/12 -
1-145415323-T-A HJV c.142T>A p.S48T Missense 3/4 -
2-31754489-C-G SRD5A2 c.583G>C p.G195R missense_variant 5/6 -
4-647908-C-T PDE6B c.892C>T p.Q298* Nonsense 5/22 -
3-184071561-C-T CLCN2 c.1744G>A p.D582N Missense 16/24 -
4-654379-C-T PDE6B c.1591C>T p.R531* Nonsense 12/22 -
4-5577974-G-A EVC2 c.3265C>T p.Q1089* Nonsense 18/22 -
4-5586559-G-A EVC2 c.2848C>T p.R950W Missense 17/22 -
4-5749953-C-T EVC c.1018C>T p.R340* Nonsense 8/21 -
4-5755524-G-A EVC c.1328G>A p.R443Q Missense 10/21 -
4-6303408-G-A WFS1 c.1886G>A p.R629Q Missense 8/8 -
4-6303542-G-C WFS1 c.2020G>C p.G674R Missense 8/8 -
4-6303717-G-A WFS1 c.2195G>A p.R732H Missense 8/8 -
4-6303785-T-C WFS1 c.2263T>C p.C755R Missense 8/8 -
4-68620023-G-T GNRHR c.31C>A p.Q11K Missense 1/3 -
4-70898903-G-A HTN3 c.122G>A p.R41Q Missense 5/6 -
4-70897813-AG-CA HTN3 c.91_92delAGinsCA p.R31Q Missense 4/6 -
4-70898922-T-A HTN3 c.141T>A p.Y47* Nonsense 5/6 -
4-76489574-G-A ODAPH c.318G>A p.W106* Nonsense 2/2 -
4-104068584-T-C CENPE c.4063A>G p.K1355E Missense 29/49 -
4-106377875-G-A PPA2 c.185C>T p.P62L Missense 2/12 -
4-114269433-A-G ANK2 c.4373A>G p.E1458G Missense 36/46 -
3-184071510-C-T CLCN2 c.1795G>A p.D599N Missense 16/24 -
4-114274737-CTG-ATC ANK2 c.4963_4965delCTGinsATC p.L1655I Missense 38/46 -
4-120107298-A-G MYOZ2 c.738A>G p.I246M Missense 6/6 -
4-159620245-C-T ETFDH c.1079C>T p.A360V Missense 9/13 -
4-159627430-C-T ETFDH c.1375C>T p.H459Y Missense 11/13 -
5-1272311-C-T TERT c.2371G>A p.V791I Missense 7/16 -
5-37816112-G-A GDNF c.277C>T p.R93W Missense 3/3 -
5-37834776-GCG-CCA GDNF c.121_123delCGCinsTGG p.R41W Missense 2/3 -
5-38925351-A-C OSMR c.2090A>C p.K697T Missense 15/18 -
5-39341369-A-C C9 c.355T>G p.C119G Missense 4/11 -
5-39342214-G-T C9 c.162C>A p.C54* Nonsense 2/11 -
5-40959622-C-A C7 c.1561C>A p.R521S Missense 12/18 -
5-41862758-G-A OXCT1 c.173C>T p.T58M Missense 2/17 -
5-70895499-G-C MCCC2 c.295G>C p.E99Q Missense 4/17 -
3-193360597-A-C OPA1 c.1193A>C p.D398A Missense 12/31 -
5-70936845-G-A MCCC2 c.1015G>A p.V339M Missense 11/17 -
5-78351682-T-C DMGDH c.326A>G p.H109R Missense 3/16 -
5-70936895-A-T MCCC2 c.1065A>T p.L355F Missense 11/17 -
5-70931025-G-T MCCC2 c.951G>T p.L317F Missense 10/17 -
5-70931025-G-C MCCC2 c.951G>C p.L317F Missense 10/17 -
5-74014629-C-T HEXB c.1250C>T p.P417L Missense 11/14 -
5-74014746-A-C HEXB c.1367A>C p.Y456S Missense 11/14 -
5-74842932-G-A POLK c.85G>A p.E29K Missense 1/14 -
5-78135214-T-G ARSB c.1178A>C p.H393P Missense 6/8 -
5-125885979-C-G ALDH7A1 c.1324G>C p.E442Q Missense 15/18 -
5-125890020-C-G ALDH7A1 c.1159G>C p.E387Q Missense 13/18 -
3-193353283-A-C OPA1 c.920A>C p.D307A Missense 9/31 -
4-114288907-C-A ANK2 c.11218C>A p.L3740I Missense 42/46 -
5-127674667-C-T FBN2 c.3430G>A p.E1144K Missense 26/65 -
5-131705800-C-T SLC22A5 c.136C>T p.P46S Missense 1/10 -
5-131714100-G-T SLC22A5 c.424G>T p.A142S Missense 2/10 -
5-131722758-G-A SLC22A5 c.866G>A p.R289Q Missense 5/10 -
5-131728202-T-G SLC22A5 c.1345T>G p.Y449D Missense 8/10 -
5-136961507-T-C KLHL3 c.1670A>G p.Y557C Missense 14/15 -
8-100832259-A-G VPS13B c.8903A>G p.N2968S Missense 49/62 -
5-176813232-GGTCCCCAAGCTGCGCCAGGCT-G SLC34A1 c.272_292del21 p.V91_A97del InFrameDeletion 4/13 -
5-177027249-G-A B4GALT7 c.38G>A p.W13* Nonsense 1/6 -
5-177031208-C-T B4GALT7 c.79C>T p.R27W Missense 2/6 -
5-177638965-T-A PHYKPL c.1310A>T p.E437V Missense 12/13 -
5-179248034-C-T SQSTM1 c.98C>T p.A33V Missense 1/8 -
5-180045911-G-A FLT4 c.2860C>T p.P954S Missense 21/30 -
6-5369353-G-A FARS2 c.550G>A p.D184N Missense 2/7 -
6-7583814-G-C DSP c.6319G>C p.V2107L Missense 24/24 -
6-35980078-C-T SLC26A8 c.260G>A p.R87Q Missense 3/20 -
6-42930887-C-A GNMT c.529C>A p.H177N Missense 4/6 -
6-43581755-A-G POLH c.1603A>G p.K535E Missense 11/11 -
6-49580247-C-T RHAG c.808G>A p.V270I Missense 6/10 -
6-51889474-C-T PKHD1 c.5134G>A p.G1712R Missense 32/67 -
6-51920391-A-T PKHD1 c.1830T>A p.Y610* Nonsense 19/67 -
6-57059615-A-T RAB23 c.434T>A p.L145* Nonsense 5/7 -
6-72960710-G-A RIMS1 c.2459G>A p.R820H Missense 14/34 -
6-74191932-G-A MTO1 c.1430G>A p.R477H Missense 8/12 -
6-88228397-G-A RARS2 c.1366C>T p.R456C Missense 16/20 -
6-107780215-T-G PDSS2 c.275A>C p.H92P Missense 1/8 -
6-110012688-T-C FIG4 c.50T>C p.L17P Missense 1/23 -
6-135639715-G-A AHI1 c.3368C>T p.S1123F Missense 26/29 -
6-135644371-T-C AHI1 c.3257A>G p.E1086G Missense 25/29 -
6-152771836-C-T SYNE1 c.3319G>A p.E1107K Missense 27/146 -
6-152461162-C-T SYNE1 c.25381G>A p.E8461K Missense 140/146 -
7-30671863-C-T GARS1 c.1904C>T p.S635L Missense 16/17 -
7-44104839-C-T PGAM2 c.290G>A p.G97D Missense 1/3 -
7-44104896-C-T PGAM2 c.233G>A p.W78* Nonsense 1/3 -
7-65546812-G-A ASL c.35G>A p.R12Q Missense 3/17 -
7-65554101-A-G ASL c.857A>G p.Q286R Missense 12/17 -
7-66458286-C-G SBDS c.377G>C p.R126T Missense 3/5 -
7-83590853-G-A SEMA3A c.2150C>T p.T717I Missense 17/17 -
8-42977872-T-A POMK c.905T>A p.V302D Missense 5/5 -
7-87060844-C-T ABCB4 c.1769G>A p.R590Q Missense 15/28 -
7-87082273-T-C ABCB4 c.523A>G p.T175A Missense 6/28 -
7-94040411-G-A COL1A2 c.1295G>A p.R432Q Missense 23/52 -
5-141693833-C-T SPRY4 c.841G>A p.V281I Missense 2/2 -
7-99700562-C-G AP4M1 c.330C>G p.Y110* Nonsense 4/15 -
7-100225917-C-T TFR2 c.1403G>A p.R468H Missense 11/18 -
7-103281044-G-A RELN c.2015C>T p.P672L Missense 17/65 -
7-107302089-G-C SLC26A4 c.3G>C p.M1? Missense 2/21 -
22-29115452-AGTC-A CHEK2 c.612_614delGAC p.T205del InFrameDeletion 5/15 -
7-107329499-T-C SLC26A4 c.1003T>C p.F335L Missense 9/21 -
7-107336408-A-C SLC26A4 c.1468A>C p.I490L Missense 13/21 -
7-107342483-G-A SLC26A4 c.2015G>A p.G672E Missense 17/21 -
7-117243829-G-T CFTR c.2901G>T p.L967F Missense 17/27 -
7-117243829-G-C CFTR c.2901G>C p.L967F Missense 17/27 -
7-138417791-A-G ATP6V0A4 c.1739T>C p.M580T Missense 17/22 -
7-143021579-C-T CLCN1 c.847C>T p.L283F Missense 7/23 -
7-143028358-G-A CLCN1 c.1013G>A p.R338Q Missense 9/23 -
5-141694213-T-C SPRY4 c.461A>G p.K154R Missense 2/2 -
5-149361189-G-T SLC26A2 c.2033G>T p.G678V Missense 3/3 -
7-150648023-T-C KCNH2 c.2131A>G p.I711V Missense 8/15 -
7-150878511-C-G ASB10 c.619G>C p.V207L Missense 3/6 -
7-150884003-C-T ASB10 c.215G>A p.R72H Missense 1/6 -
7-155596307-C-T SHH c.676G>A p.A226T Missense 3/3 -
8-10480384-G-A RP1L1 c.328C>T p.P110S Missense 2/4 -
8-16026077-C-A MSR1 c.520G>T p.D174Y Missense 4/10 -
8-31012139-GAC-G WRN c.3689_3690delCA p.T1230Rfs*21 SpliceAcceptorDeletion 32/35 -
8-38282064-A-G FGFR1 c.899T>C p.I300T Missense 7/18 -
9-136320496-C-A ADAMTS13 c.3339C>A p.C1113* Nonsense 25/29 -
8-55372085-T-A SOX17 c.775T>A p.Y259N Missense 2/2 -
8-55541461-T-G RP1 c.5019T>G p.Y1673* Nonsense 4/4 -
8-67089624-G-C CRH c.89C>G p.P30R Missense 2/2 -
8-68396032-G-A CPA6 c.809C>T p.A270V Missense 8/11 -
8-86392989-A-G CA2 c.754A>G p.N252D Missense 7/7 -
8-87641222-A-C CNGB3 c.1405T>G p.Y469D Missense 12/18 -
8-97157413-G-T GDF6 c.746C>A p.A249E Missense 2/2 -
8-97172796-C-A GDF6 c.125G>T p.G42V Missense 1/2 -
8-100887723-C-CGAT VPS13B c.11823_11824insGAT p.H3941_L3942insD InFrameInsertion 62/62 -
8-100887648-A-AGAT VPS13B c.11750_11752dup p.D3917dup InFrameInsertion 62/62 -
8-106813942-G-T ZFPM2 c.1632G>T p.M544I Missense 8/8 -
8-106814279-A-G ZFPM2 c.1969A>G p.S657G Missense 8/8 -
8-133141666-T-C KCNQ3 c.2462A>G p.N821S Missense 15/15 -
8-133146616-G-A KCNQ3 c.1720C>T p.P574S Missense 13/15 -
5-149502705-G-A PDGFRB c.2083C>T p.R695C Missense 15/23 -
8-133900495-G-A TG c.2443G>A p.G815R Missense 10/48 -
8-143956440-C-T CYP11B1 c.1331G>A p.G444D Missense 8/9 -
8-143956502-A-C CYP11B1 c.1269T>G p.Y423* Nonsense 8/9 -
8-145739460-A-G RECQL4 c.1910T>C p.F637S Missense 12/22 -
9-12704564-C-T TYRP1 c.1120C>T p.R374* Nonsense 6/8 -
9-12694246-A-T TYRP1 c.250A>T p.R84* Nonsense 2/8 -
9-32984779-C-T APTX c.662G>A p.W207* Nonsense 6/8 -
9-32984778-C-T APTX c.621G>A p.W207* Nonsense 6/8 -
9-32974493-C-T APTX c.837G>A p.W279* Nonsense 7/8 -
9-34650438-A-G GALT c.1132A>G p.I378V Missense 11/11 -
9-36217526-C-T GNE c.2005G>A p.G669R Missense 12/12 -
9-36219976-C-T GNE c.1675G>A p.G559R Missense 10/12 -
9-36219976-C-G GNE c.1675G>C p.G559R Missense 10/12 -
6-24533845-G-C ALDH5A1 c.1513G>C p.G505R Missense 10/10 -
9-36218221-G-A GNE c.1892C>T p.A631V Missense 11/12 -
5-150723155-C-A SLC36A2 c.260G>T p.G87V Missense 3/10 -
9-36222845-G-A GNE c.1562C>T p.A521V Missense 9/12 -
9-36227394-C-A GNE c.1132G>T p.D378Y Missense 7/12 -
9-97864024-G-A FANCC c.1642C>T p.R548* Nonsense 15/15 -
9-97912338-G-A FANCC c.553C>T p.R185* Nonsense 7/15 -
9-123313096-C-G CDK5RAP2 c.280G>C p.G94R Missense 4/38 -
9-126139229-G-A CRB2 c.3746G>A p.R1249Q Missense 13/13 -
9-133333936-G-T ASS1 c.323G>T p.R108L Missense 4/15 -
9-133355785-G-A ASS1 c.787G>A p.V263M Missense 11/15 -
9-135202049-G-A SETX c.4936C>T p.Q1646* Nonsense 10/26 -
9-135205028-G-T SETX c.1957C>A p.Q653K Missense 10/26 -
9-135205178-T-C SETX c.1807A>G p.N603D Missense 10/26 -
9-136404923-G-A ADAMTSL2 c.340G>A p.E114K Missense 5/19 -
9-138670668-G-A KCNT1 c.2729G>A p.R910Q Missense 23/31 -
10-14977469-C-T DCLRE1C c.457G>A p.G153R Missense 6/14 -
10-14987109-G-A DCLRE1C c.241C>T p.R81* Nonsense 3/14 -
10-17113456-C-T CUBN c.2594G>A p.S865N Missense 19/67 -
10-27826978-T-A RAB18 c.619T>A p.*207Kext*20 Missense 7/7 -
10-27826978-T-C RAB18 c.619T>C p.*207Qext*20 Missense 7/7 -
10-50958895-T-A OGDHL c.886A>T p.M296L Missense 7/23 -
10-70645376-A-T STOX1 c.1824A>T p.E608D Missense 3/4 -
10-72360648-C-T PRF1 c.11G>A p.R4H Missense 2/3 -
10-73468926-C-T CDH23 c.3178C>T p.R1060W Missense 27/70 -
10-73892817-T-C ASCC1 c.869A>G p.N290S Missense 8/10 -
10-75860710-TTTG-T VCL c.1877_1879delTTG p.F626_D627delinsY MultiAAMissense 14/22 -
10-75871781-CTGT-C VCL c.2862_2864delGTT p.L955del InFrameDeletion 19/22 -
10-85960394-C-T CDHR1 c.476C>T p.A159V Missense 6/17 -
10-99344567-C-T HOGA1 c.107C>T p.A36V Missense 1/7 -
10-99361676-C-T HOGA1 c.763C>T p.R255* Nonsense 6/7 -
10-100249808-CTT-C HPSE2 c.1465_1466delAA p.N489Pfs*126 SpliceDonorDeletion 10/12 -
11-5247914-C-T HBB c.208G>A p.G70S Missense 2/3 -
10-101595950-A-T ABCC2 c.3517A>T p.I1173F Missense 25/32 -
10-101829514-C-T CPN1 c.533G>A p.G178D Missense 3/9 -
10-102748875-G-A TWNK c.908G>A p.R303Q Missense 1/5 -
5-151202476-C-T GLRA1 c.1108G>A p.G370S Missense 9/9 -
5-151208511-G-A GLRA1 c.1030C>T p.R344* Nonsense 8/9 -
5-167937606-C-T RARS1 c.1367C>T p.S456L Missense 12/15 -
11-36614367-C-G RAG2 c.1352G>C p.G451A Missense 2/2 -
11-46747447-G-A F2 c.598G>A p.E200K Missense 7/14 -
11-46748311-G-A F2 c.1054G>A p.E352K Missense 9/14 -
11-47359047-C-T MYBPC3 c.2497G>A p.A833T Missense 25/35 -
11-47463227-A-G RAPSN c.848T>C p.L283P Missense 5/8 -
11-61161437-G-T TMEM216 c.218G>T p.R73L Missense 3/5 -
11-65307505-G-A LTBP3 c.3364C>T p.Q1122* Nonsense 24/28 -
11-76895733-G-T MYO7A c.3476G>T p.G1159V Missense 27/49 -
11-76903205-T-TCTCCATGAGCAAACAGCGGGG MYO7A c.4036_4037insCCATGAGCAAACAGCGGGGCT p.F1345_F1346insSMSKQRG InFrameInsertion 31/49 -
11-76924956-A-ACCATGAGCAAACAGCGGGGCT MYO7A c.6490_6491insCCATGAGCAAACAGCGGGGCT p.N2164delinsTMSKQRGY MultiAAMissense 48/49 -
11-76924929-A-ACCATGAGCAAACAGCGGGGCT MYO7A c.6466_6467insTGAGCAAACAGCGGGGCTCCA p.T2155_K2156insMSKQRGS InFrameInsertion 48/49 -
11-76925703-G-GCCATGAGCAAACAGCGGGGCT MYO7A c.6614_6634dup p.M2205_S2211dup inframe_insertion 49/49 -
11-77838457-G-A ALG8 c.121C>T p.R41* Nonsense 2/13 -
11-85347215-G-T TMEM126B c.635G>T p.G212V Missense 5/5 -
12-110023907-T-C MVK c.608T>C p.V203A Missense 6/11 -
12-56115631-C-T RDH5 c.469C>T p.R157W Missense 3/5 -
12-81101832-G-T MYF6 c.334G>T p.A112S Missense 1/3 -
12-88476854-C-A CEP290 c.4966G>T p.E1656* Nonsense 37/54 -
12-89744637-T-C DUSP6 c.566A>G p.N189S Missense 2/3 -
12-102164255-T-G GNPTAB c.1042A>C p.I348L Missense 9/21 -
12-103248972-G-C PAH c.648C>G p.Y216* Nonsense 6/13 -
12-106824181-T-A POLR3B c.1394T>A p.V465E Missense 14/28 -
12-109999603-C-T MMAB c.403G>A p.A135T Missense 5/9 -
14-24731434-G-T TGM1 c.125C>A p.S42Y Missense 2/15 -
13-73409497-G-A PIBF1 c.1214G>A p.R405Q Missense 9/18 -
13-77570143-T-C CLN5 c.593T>C p.L149P Missense 3/4 -
13-95243122-C-A TGDS c.298G>T p.A100S Missense 4/12 -
3-52023042-G-A ACY1 c.1178G>A p.R393H Missense 15/15 -
3-57232242-T-C HESX1 c.541A>G p.T181A Missense 4/4 -
3-57272139-G-A APPL1 c.280G>A p.D94N Missense 4/22 -
3-81695554-A-T GBE1 c.771T>A p.F257L Missense 6/16 -
3-128627047-G-A ACAD9 c.1298G>A p.R433Q Missense 13/18 -
3-128628253-C-T ACAD9 c.1552C>T p.R518C Missense 15/18 -
11-5255582-C-A HBD c.82G>T p.A28S Missense 1/3 -
11-17531093-G-C USH1C c.1823C>G p.P608R Missense 18/27 -
11-18291302-G-A SAA1 c.269G>A p.G90D Missense 4/4 -
11-18303533-G-A HPS5 c.3293C>T p.T1098I Missense 22/23 -
11-19204266-G-A CSRP3 c.536C>T p.T179M Missense 6/6 -
11-19207878-C-T CSRP3 c.299G>A p.R100H Missense 4/6 -
11-22239808-A-G ANO5 c.155A>G p.N52S Missense 4/22 -
11-66618639-C-T PC c.2095G>A p.V699M Missense 17/23 -
11-67258278-C-T AIP c.807C>T p.F269= Synonymous 6/6 -
11-67258382-G-A AIP c.911G>A p.R304Q Missense 6/6 -
11-67816350-G-A TCIRG1 c.1559G>A p.W520* Nonsense 14/20 -
11-68174018-G-C LRP5 c.1828G>C p.G610R Missense 9/23 -
11-68549252-G-A CPT1A c.1339C>T p.R447* Nonsense 11/19 -
11-68582864-C-T CPT1A c.79G>A p.A27T Missense 2/19 -
11-71155134-C-G DHCR7 c.226G>C p.V76L Missense 4/9 -
11-72004653-G-A CLPB c.1792C>T p.R598C Missense 16/16 -
11-72013356-G-A CLPB c.1159C>T p.R387* Nonsense 10/16 -
11-72013383-T-C CLPB c.1132A>G p.R378G Missense 10/16 -
11-73716889-G-A UCP3 c.427C>T p.R143* Nonsense 4/7 -
11-73717247-C-T UCP3 c.304G>A p.V102I Missense 3/7 -
11-76853809-G-A MYO7A c.73G>A p.G25R Missense 3/49 -
11-76867946-A-G MYO7A c.631A>G p.S211G Missense 7/49 -
11-76873963-C-A MYO7A c.1619C>A p.P540H Missense 14/49 -
9-140082459-C-A ANAPC2 c.214G>T p.E72* Nonsense 2/13 -
11-86663032-T-C FZD4 c.766A>G p.I256V Missense 2/2 -
11-88961100-C-A TYR c.1146C>A p.N382K Missense 3/5 -
11-103191758-G-A DYNC2H1 c.11726G>A p.G3909D Missense 81/89 -
11-108143299-A-G ATM c.3118A>G p.M1040V Missense 21/63 -
11-117222588-C-T CEP164 c.277C>T p.R93W Missense 5/33 -
11-117859199-A-G IL10RA c.170A>G p.Y57C Missense 2/7 -
11-118039454-C-T SCN2B c.83G>A p.R28Q Missense 2/4 -
11-118897689-G-A SLC37A4 c.742C>T p.Q248* Missense 7/11 -
12-110019280-T-C MVK c.452T>C p.V151A Missense 5/11 -
11-118962156-G-A HMBS c.532G>A p.D178N Missense 9/14 -
11-128709126-A-G KCNJ1 c.1013T>C p.M338T Missense 3/3 -
12-2659186-G-A CACNA1C c.1468G>A p.G490R Missense 10/47 -
12-6125802-A-T VWF c.5191T>A p.S1731T Missense 30/52 -
12-6458350-A-G SCNN1A c.1477T>C p.W493R Missense 10/13 -
12-7842773-G-A GDF3 c.796C>T p.R266C Missense 2/2 -
12-12334271-C-T LRP6 c.1079G>A p.R360H Missense 6/23 -
12-32994103-T-C PKP2 c.1415A>G p.K472R Missense 6/13 -
12-49445189-TGGCTCCTCAGGCCGGGGGGACAGGTGC-T KMT2D c.2250_2276del27 p.R755_P763del InFrameDeletion 11/55 -
12-52760957-C-T KRT85 c.233G>A p.R78H Missense 1/9 -
12-52965165-A-G KRT74 c.821T>C p.F274S Missense 4/9 -
12-53703408-A-G AAAS c.787T>C p.S263P Missense 8/16 -
12-53715207-G-T AAAS c.43C>A p.Q15K Missense 1/16 -
14-24729786-GAC-CAT TGM1 c.625_627delGTCinsATG p.V209M Missense 4/15 -
15-65793031-G-C DPP8 c.459C>G p.Y153* Nonsense 4/20 -
12-121176971-C-T ACADS c.1058C>T p.S353L Missense 9/10 -
12-121177117-G-A ACADS c.1105G>A p.G369S Missense 10/10 -
12-121177169-G-A ACADS c.1157G>A p.R386H Missense 10/10 -
12-121432080-C-G HNF1A c.827C>G p.A276G Missense 4/10 -
12-121435391-C-T HNF1A c.1424C>T p.P475L Missense 7/10 -
13-20763366-C-T GJB2 c.355G>A p.E119K Missense 2/2 -
13-20763710-C-T GJB2 c.11G>A p.G4D Missense 2/2 -
19-11224362-A-G LDLR c.1510A>G p.K504E Missense 10/18 -
13-23909622-G-T SACS c.8393C>A p.P2798Q Missense 10/10 -
13-24380133-C-T MIPEP c.1804G>A p.E602K Missense 16/19 -
13-25458581-A-ATTC CENPJ c.3495_3497dup p.K1165dup InFrameInsertion 14/17 -
13-28498711-C-T PDX1 c.725C>T p.P242L Missense 2/2 -
13-37583420-G-C EXOSC8 c.815G>C p.S272T Missense 11/11 -
13-48523626-C-A SUCLA2 c.1220G>T p.R407L Missense 9/11 -
13-52520433-T-G ATP7B c.3047A>C p.E1016A Missense 13/21 -
13-52520427-G-A ATP7B c.3053C>T p.A1018V Missense 13/21 -
16-1841712-T-TTGCGCAGGC IGFALS c.706_707insGCCTGCGCA p.A235_N236insSLR InFrameInsertion 2/2 -
14-21161845-A-T ANG c.122A>T p.K41I Missense 2/2 -
14-21161931-A-G ANG c.208A>G p.I70V Missense 2/2 -
14-21762904-C-T RPGRIP1 c.154C>T p.R52* Nonsense 3/25 -
14-21790040-G-T RPGRIP1 c.1639G>T p.A547S Missense 14/25 -
14-21811196-A-G RPGRIP1 c.3341A>G p.D1114G Missense 22/25 -
14-21788188-A-G RPGRIP1 c.1319A>G p.D440G Missense 12/25 -
14-24724663-C-T TGM1 c.1552G>A p.V518M Missense 11/15 -
10-48416429-T-G GDF2 c.265A>C p.M89L Missense 1/2 -
14-74759326-T-C ABCD4 c.956A>G p.Y319C Missense 10/19 -
14-74946991-C-T NPC2 c.442G>A p.V148I Missense 5/5 -
14-74953107-C-T NPC2 c.115G>A p.V39M Missense 2/5 -
14-76211872-C-T TTLL5 c.1435C>T p.R479* Nonsense 17/32 -
14-77745107-T-C POMT2 c.1997A>G p.Y666C Missense 19/21 -
14-81558891-C-G TSHR c.484C>G p.P162A Missense 6/10 -
15-40457337-C-T BUB1B c.119C>T p.T40M Missense 2/23 -
14-81609572-T-G TSHR c.1170T>G p.C390W Missense 10/10 -
14-88431926-T-C GALC c.956A>G p.Y319C Missense 9/17 -
14-88434700-T-C GALC c.887A>G p.Y296C Missense 8/17 -
14-88452941-T-C GALC c.334A>G p.T112A Missense 4/17 -
14-92472218-T-C TRIP11 c.2102A>G p.N701S Missense 11/21 -
14-92472221-T-C TRIP11 c.2099A>G p.N700S Missense 11/21 -
14-95085642-C-G SERPINA3 c.754C>G p.P252A Missense 3/5 -
15-40494810-G-A BUB1B c.1649G>A p.R550Q Missense 14/23 -
15-40702898-G-A IVD c.367G>A p.G120R Missense 4/12 -
15-40702955-C-T IVD c.424C>T p.R139C Missense 4/12 -
15-40707653-C-T IVD c.941C>T p.A311V Missense 9/12 -
15-41689256-A-G NDUFAF1 c.2T>C p.M1? Missense 2/5 -
15-42676690-G-A CAPN3 c.319G>A p.E107K Missense 2/24 -
15-42691746-C-T CAPN3 c.1250C>T p.T417M Missense 10/24 -
15-74481585-T-G STRA6 c.961A>C p.T321P Missense 12/19 -
15-58855748-C-T LIPC c.1214C>T p.T405M Missense 8/9 -
15-72637803-G-A HEXA c.1510C>T p.R504C Missense 13/14 -
15-72637858-C-A HEXA c.1455G>T p.W485C Missense 13/14 -
15-72637858-C-G HEXA c.1455G>C p.W485C Missense 13/14 -
15-72637891-C-G HEXA c.1422G>C p.W474C Missense 13/14 -
15-72641566-CCC-GCT HEXA c.838_840delGGGinsAGC p.G280S Missense 8/14 -
15-74472461-C-T STRA6 c.1964G>A p.R655H Missense 19/19 -
19-45864872-G-C ERCC2 c.1147C>G p.L383V Missense 12/23 -
15-74483230-G-A STRA6 c.878C>T p.P293L Missense 11/19 -
15-74635368-C-T CYP11A1 c.940G>A p.E314K Missense 5/9 -
15-80472526-C-T FAH c.1021C>T p.R341W Missense 12/14 -
15-85186799-G-A WDR73 c.1039C>T p.H347Y Missense 8/8 -
16-1412062-CCAA-C GNPTG c.347_349delACA p.N116del InFrameDeletion 6/11 -
16-1657188-TGGACAG-T IFT140 c.74_79delCTGTCC p.P25_V26del InFrameDeletion 3/31 -
16-1621516-AGGAGTT-A IFT140 c.1538_1543delAACTCC p.Q513_L514del InFrameDeletion 14/31 -
16-1642177-C-G IFT140 c.634G>C p.G212R Missense 6/31 -
17-6329049-ACGGCTCCAGCTC-A AIPL1 c.874_885del12 p.E292_P295del InFrameDeletion 6/6 -
16-57957231-G-C CNGB1 c.1589C>G p.P530R Missense 18/33 -
16-70548253-G-A COG4 c.529C>T p.R177* Nonsense 4/19 -
16-81298282-C-T BCO1 c.509C>T p.T170M Missense 5/11 -
16-88800060-C-T PIEZO1 c.2423G>A p.R808Q Missense 18/51 -
16-88800139-C-T PIEZO1 c.2344G>A p.G782S Missense 18/51 -
16-89169073-C-T ACSF3 c.728C>T p.P243L Missense 4/11 -
16-89211719-C-T ACSF3 c.1411C>T p.R471W Missense 9/11 -
17-6329058-GCTCCAGCACTTT-G AIPL1 c.865_876del12 p.K289_E292del InFrameDeletion 6/6 -
16-89220556-C-T ACSF3 c.1672C>T p.R558W Missense 11/11 -
16-89245959-C-T CDH15 c.178C>T p.R60C Missense 2/14 -
16-89599025-G-T SPG7 c.1305G>T p.Q435H Missense 9/17 -
16-89620349-T-C SPG7 c.2084T>C p.L695P Missense 15/17 -
17-3550800-G-A CTNS c.124G>A p.V42I Missense 4/12 -
17-4925475-C-T KIF1C c.2099C>T p.P700L Missense 22/23 -
17-4926868-C-T KIF1C c.2734C>T p.R912W Missense 23/23 -
17-6328875-G-A AIPL1 c.1060C>T p.P354S Missense 6/6 -
17-6328809-G-A AIPL1 c.1126C>T p.P376S Missense 6/6 -
18-31320169-T-G ASXL3 c.2801T>G p.L934* Nonsense 11/12 -
17-7123838-C-T ACADVL c.194C>T p.P65L Missense 3/20 -
17-7125504-GGCC-G ACADVL c.761_763delGCC p.G254_L255delinsV MultiAAMissense 9/20 -
17-7125569-AAGG-A ACADVL c.829_831delGAG p.E277del InFrameDeletion 9/20 -
17-7125996-GAGA-G ACADVL c.896_898delAGA p.K299del InFrameDeletion 10/20 -
17-7124977-AAAT-A ACADVL c.600_602delATA p.K200_Y201delinsN MultiAAMissense 7/20 -
17-7125525-T-C ACADVL c.782T>C p.V261A Missense 9/20 -
17-7127562-G-A ACADVL c.1532G>A p.R511Q Missense 15/20 -
17-7128292-G-A ACADVL c.1844G>A p.R615Q Missense 20/20 -
17-17118598-C-T FLCN c.1333G>A p.A445T Missense 12/14 -
1-179966166-C-T CEP350 c.874C>T p.Q292* Nonsense 6/38 -
17-7979005-T-C ALOX12B c.1562A>G p.Y521C Missense 12/15 -
17-8790433-G-A PIK3R5 c.1885C>T p.P629S Missense 12/19 -
17-12896274-C-T ELAC2 c.2342G>A p.R781H Missense 24/24 -
17-12899902-C-T ELAC2 c.1621G>A p.A541T Missense 17/24 -
17-12899905-C-T ELAC2 c.1618G>A p.A540T Missense 17/24 -
17-12901748-C-T ELAC2 c.1501G>A p.A501T Missense 16/24 -
17-16220000-T-C PIGL c.500T>C p.L167P Missense 5/7 -
17-37840962-G-A PGAP3 c.320C>T p.S107L Missense 3/8 -
17-39998527-A-C KLHL10 c.647A>C p.Q216P Missense 2/5 -
17-42463054-G-C ITGA2B c.439C>G p.L147V Missense 4/30 -
17-59821793-CTT-C BRIP1 c.2255_2256delAA p.K752Rfs*12 SpliceDonorDeletion 15/20 -
17-72305484-G-A DNAI2 c.1304G>A p.W435* Nonsense 10/14 -
17-73518081-G-T TSEN54 c.919G>T p.A307S Missense 8/11 -
18-3457439-A-T TGIF1 c.320A>T p.Q107L Missense 3/3 -
18-3457570-A-G TGIF1 c.451A>G p.T151A Missense 3/3 -
18-20548818-C-T RBBP8 c.298C>T p.R100W Missense 5/19 -
18-28648997-GTCC-G DSC2 c.2368_2370delGGA p.G790del InFrameDeletion 15/16 -
18-29116222-A-C DSG2 c.1481A>C p.D494A Missense 11/15 -
18-33793365-C-T MOCOS c.1255C>T p.R419* Nonsense 7/15 -
18-61654237-C-T SERPINB8 c.850C>T p.R284* Nonsense 7/7 -
19-5896466-C-A NDUFA11 c.311G>T p.R104L Missense 3/4 -
19-11240345-C-T LDLR c.2546C>T p.S849L Missense 17/18 -
19-11488727-T-C EPOR c.1460A>G p.N487S Missense 8/8 -
19-16601330-T-C CALR3 c.245A>G p.K82R Missense 3/9 -
19-17927755-G-A INSL3 c.304C>T p.R102C Missense 2/2 -
19-30193654-T-C C19orf12 c.391A>G p.K131E Missense 3/3 -
19-33353033-T-C SLC7A9 c.695A>G p.Y232C Missense 6/13 -
19-34262922-C-T CHST8 c.229C>T p.R77W Missense 5/5 -
19-36497493-C-T SYNE4 c.699G>A p.W233* Nonsense 5/8 -
19-38897643-C-T FAM98C c.844C>T p.R282* Nonsense 7/8 -
19-39002893-T-C RYR1 c.9242T>C p.M3081T Missense 63/106 -
19-39034444-C-T RYR1 c.11941C>T p.H3981Y Missense 87/106 -
19-45452024-A-C APOC2 c.122A>C p.K41T Missense 3/4 -
19-45452080-G-A APOC2 c.178G>A p.E60K Missense 3/4 -
19-45452429-A-C APOC2 c.229A>C p.K77Q Missense 4/4 -
19-45855507-G-C ERCC2 c.2150C>G p.A717G Missense 22/23 -
19-45856059-C-G ERCC2 c.1847G>C p.R616P Missense 20/23 -
19-45856397-C-G ERCC2 c.1775G>C p.R592P Missense 19/23 -
19-45860626-G-C ERCC2 c.1381C>G p.L461V Missense 15/23 -
19-45912070-A-G POLR1G c.844A>G p.T282A Missense 3/3 -
19-46271631-C-T SIX5 c.472G>A p.A158T Missense 1/3 -
19-49564639-G-A NTF4 c.616C>T p.R206W Missense 2/2 -
19-49686146-G-A TRPM4 c.1575G>A p.W525* Nonsense 11/25 -
19-50747534-G-T MYH14 c.1150G>T p.G384C Missense 11/43 -
19-51411852-C-T KLK4 c.458G>A p.W153* Nonsense 3/5 -
19-55667971-C-T TNNI3 c.150G>A p.K50= Synonymous 4/8 -
22-29130662-ACTG-A CHEK2 c.45_47delCAG p.S16del InFrameDeletion 2/15 -
20-741709-G-C SLC52A3 c.1371C>G p.F457L Missense 5/5 -
20-744167-A-T SLC52A3 c.1048T>A p.L350M Missense 3/5 -
20-5294763-G-A PROKR2 c.253C>T p.R85C Missense 2/3 -
20-13765892-G-A NDUFAF5 c.178G>A p.A60T Missense 1/11 -
20-18505200-G-T SEC23B c.490G>T p.V164L Missense 5/20 -
20-18505624-C-T SEC23B c.649C>T p.R217* Nonsense 6/20 -
20-30232603-G-A COX4I2 c.412G>A p.E138K Missense 5/5 -
20-30408160-C-A MYLK2 c.284C>A p.A95E Missense 3/13 -
20-33519830-G-A GSS c.941C>T p.P314L Missense 10/13 -
20-35563451-G-A SAMHD1 c.490C>T p.R164* Nonsense 4/16 -
20-43255231-CC-AT ADA c.227_228delGGinsAT p.R76H Missense 4/12 -
20-43251694-C-T ADA c.632G>A p.R211H Missense 7/12 -
20-48140626-C-T PTGIS c.824G>A p.R275Q Missense 6/10 -
20-52775614-G-A CYP24A1 c.1039C>T p.Q347* Nonsense 8/12 -
21-19685292-G-C TMPRSS15 c.2135C>G p.S712* Nonsense 18/25 -
21-37833693-C-T CLDN14 c.301G>A p.G101R Missense 2/2 -
21-43795829-A-G TMPRSS3 c.1340T>C p.M447T Missense 12/13 -
22-29120977-TTAG-T CHEK2 c.577_579delCTA p.L193del InFrameDeletion 4/15 -
22-29121042-TGTA-T CHEK2 c.513_515delTAC p.N171_T172delinsK MultiAAMissense 4/15 -
22-29121233-T-C CHEK2 c.442A>G p.R148G Missense 3/15 -
22-40760969-G-A ADSL c.1277G>A p.R426H Missense 12/13 -
22-40761031-T-C ADSL c.1339T>C p.S447P Missense 12/13 -
22-41574281-TGCAACAGCAGCA-T EP300 c.6574_6585del12 p.Q2192_Q2195del InFrameDeletion 31/31 -
22-42457043-C-T NAGA c.986G>A p.R329Q Missense 8/9 -
22-42457056-C-T NAGA c.973G>A p.E325K Missense 8/9 -
22-42463140-G-C NAGA c.479C>G p.S160C Missense 4/9 -
22-50518820-G-A MLC1 c.274C>T p.P92S Missense 4/12 -
22-50893287-T-C SBF1 c.4768A>G p.T1590A Missense 35/41 -
22-50966140-C-T TYMP c.523G>A p.V175M Missense 5/10 -
22-50967020-C-T TYMP c.437G>A p.R146H Missense 4/10 -
22-51064461-T-A ARSA c.1010A>T p.D337V Missense 6/8 -
22-51065121-T-A ARSA c.752A>T p.D251V Missense 4/8 -
X-2871204-C-G ARSL c.410G>C p.G137A Missense 5/11 -
X-19375782-A-C PDHA1 c.844A>C p.M282L Missense 9/11 -
X-19362156-A-C PDHA1 c.1A>C p.M1? Missense 1/11 -
X-19362156-A-T PDHA1 c.1A>T p.M1? Missense 1/11 -
X-31496398-T-C DMD c.8762A>G p.H2921R Missense 59/79 -
X-31496426-T-C DMD c.8734A>G p.N2912D Missense 59/79 -
X-31496431-T-A DMD c.8729A>T p.E2910V Missense 59/79 -
X-31496434-T-A DMD c.8726A>T p.E2909V Missense 59/79 -
X-43817783-G-A NDP c.109C>T p.R37* Nonsense 2/3 -
2-9645428-G-A ADAM17 c.1411C>T p.Q471* Nonsense 12/19 -
X-48386663-C-T EBP c.511C>T p.R171C Missense 5/5 -
X-50653985-C-T BMP15 c.202C>T p.R68W Missense 1/2 -
X-50658966-G-A BMP15 c.538G>A p.A180T Missense 2/2 -
X-66931295-C-A AR c.1937C>A p.A646D Missense 4/8 -
X-68836358-G-T EDA c.206G>T p.R69L Missense 1/8 -
X-69255284-G-A EDA c.1001G>A p.R334H Missense 8/8 -
X-76856021-T-C ATRX c.5579A>G p.N1860S Missense 23/35 -
X-84563194-C-T POF1B c.986G>A p.R329Q Missense 10/17 -
X-105278284-T-A SERPINA7 c.986A>T p.Y329F Missense 4/5 -
X-105280479-C-T SERPINA7 c.571G>A p.D191N Missense 2/5 -
X-119005968-G-C NDUFA1 c.94G>C p.G32R Missense 1/3 -
X-136649499-C-G ZIC3 c.649C>G p.P217A Missense 1/3 -
12-53703020-G-A AAAS c.856C>T p.R286* Nonsense 9/16 -
7-121718973-G-A AASS c.2428C>T p.Q810* Nonsense 22/24 -
7-87069674-A-T ABCB4 c.1401T>A p.Y467* Nonsense 13/28 -
7-87069674-A-C ABCB4 c.1401T>G p.Y467* Nonsense 13/28 -
2-220075187-G-A ABCB6 c.2267C>T p.A756V Missense 17/19 -
12-49169162-C-T ADCY6 c.1904G>A p.R635H Missense 11/22 -
12-49171899-G-A ADCY6 c.1006C>T p.R336W Missense 3/22 -
4-178359970-A-C AGA c.436T>G p.L146V Missense 4/9 -
11-47726227-C-A AGBL2 c.454G>T p.E152* Nonsense 7/19 -
11-47727091-G-A AGBL2 c.382C>T p.R128* Nonsense 6/19 -
4-107248643-C-T AIMP1 c.217C>T p.R49* Nonsense 3/7 -
7-91691743-G-T AKAP9 c.5920G>T p.E1974* Nonsense 24/50 -
9-116151734-C-T ALAD c.785G>A p.R262Q Missense 10/12 -
9-116155790-C-T ALAD c.50G>A p.R17Q Missense 2/12 -
10-97388152-TCT-CCA ALDH18A1 c.904_906delAGAinsTGG p.R302W Missense 8/18 -
10-97376299-G-A ALDH18A1 c.1540C>T p.R514W Missense 13/18 -
12-112229964-G-A ALDH2 c.895G>A p.D299N Missense 8/13 -
14-74531536-A-G ALDH6A1 c.1492T>C p.Y498H Missense 11/12 -
14-74538992-G-A ALDH6A1 c.262C>T p.R88C Missense 4/12 -
14-74539060-T-C ALDH6A1 c.194A>G p.N65S Missense 4/12 -
14-74539275-A-G ALDH6A1 c.151T>C p.S51P Missense 3/12 -
16-30078636-C-T ALDOA c.223C>T p.H75Y Missense 3/10 -
16-30078639-C-T ALDOA c.226C>T p.R76C Missense 3/10 -
16-30078813-C-G ALDOA c.317C>G p.T106S Missense 4/10 -
16-30078812-A-T ALDOA c.316A>T p.T106S Missense 4/10 -
16-30078568-C-G ALDOA c.155C>G p.T52S Missense 3/10 -
16-30078567-A-T ALDOA c.154A>T p.T52S Missense 3/10 -
9-104187213-C-T ALDOB c.911G>A p.R304Q Missense 8/9 -
1-63064445-C-T ANGPTL3 c.574C>T p.Q192* Nonsense 2/7 -
17-64216701-C-T APOH c.575G>A p.G192E Missense 5/8 -
17-64212935-C-T APOH c.755G>A p.G252E Missense 6/8 -
21-27264107-G-A APP c.2138C>T p.A713V Missense 17/18 -
21-27284152-C-T APP c.1810G>A p.V604M Missense 14/18 -
21-27462316-G-A APP c.298C>T p.R100W Missense 3/18 -
12-50355886-T-A AQP5 c.86T>A p.L29Q Missense 1/4 -
12-50357902-C-G AQP5 c.556C>G p.P186A Missense 3/4 -
22-51064624-G-A ARSA c.937C>T p.R313* Nonsense 5/8 -
8-37986381-A-G ASH2L c.1439A>G p.Y480C Missense 12/16 -
8-37978524-A-G ASH2L c.1022A>G p.Y341C Missense 10/16 -
1-176983985-T-C ASTN1 c.1465A>G p.M489V Missense 8/23 -
18-31320169-T-A ASXL3 c.2801T>A p.L934* Nonsense 11/12 -
3-10417194-T-C ATP2B2 c.1336A>G p.I446V Missense 11/23 -
1-235647766-G-A B3GALNT2 c.427C>T p.R143* Nonsense 4/12 -
11-66281934-G-T BBS1 c.217G>T p.G73* Nonsense 4/17 -
4-42122134-G-A BEND4 c.1324C>T p.Q442* Nonsense 5/6 -
17-1174108-C-T BHLHA9 c.251C>T p.A84V Missense 1/1 -
13-103527663-C-T BIVM-ERCC5 c.4333C>T p.L1445F Missense 23/23 -
13-103527672-G-C BIVM-ERCC5 c.4342G>C p.D1448H Missense 23/23 -
13-103513863-G-C ERCC5 c.679G>C p.D227H Missense 7/15 -
8-22053056-G-A BMP1 c.1721G>A p.C574Y Missense 13/20 -
8-22053089-G-A BMP1 c.1754G>A p.R585H Missense 13/20 -
8-22059342-G-A BMP1 c.2134G>A p.G712S Missense 16/20 -
8-22059375-G-A BMP1 c.2167G>A p.G723S Missense 16/20 -
10-43288009-A-G BMS1 c.848A>G p.Y283C Missense 7/23 -
7-2578899-G-A BRAT1 c.1684C>T p.R562* Nonsense 13/14 -
15-40476000-C-T BUB1B c.667C>T p.Q223* Nonsense 6/23 -
9-140811855-T-C CACNA1B c.938T>C p.M313T Missense 6/47 -
9-140866015-A-G CACNA1B c.1514A>G p.N505S Missense 11/47 -
9-140870469-G-T CACNA1B c.1654G>T p.G552W Missense 12/47 -
1-181688960-T-C CACNA1E c.1712T>C p.L571S Missense 13/48 -
17-48655854-T-C CACNA1G c.2230T>C p.Y744H Missense 9/38 -
12-1969369-G-A CACNA2D4 c.1882C>T p.R628* Nonsense 19/38 -
7-116544296-T-A CAPZA2 c.285T>A p.C95* Nonsense 5/10 -
3-121980963-C-T CASR c.1081C>T p.Q361* Nonsense 4/7 -
12-49298864-C-T CCDC65 c.268C>T p.R90* Nonsense 2/8 -
19-18990162-A-G CERS1 c.788T>C p.V263A Missense 5/8 -
7-80301310-T-G CD36 c.1079T>G p.L360* Nonsense 11/15 -
2-87017465-G-T CD8A c.389C>A p.P130Q Missense 2/6 -
10-73565943-G-A CDH23 c.8083G>A p.D2695N Missense 57/70 -
10-73406288-G-A CDH23 c.1363G>A p.D455N Missense 14/70 -
20-60503452-G-A CDH4 c.1976G>A p.R659Q Missense 12/16 -
13-26974623-C-T CDK8 c.967C>T p.R323* Nonsense 10/13 -
13-26928009-A-T CDK8 c.448A>T p.R150* Nonsense 4/13 -
4-56840914-C-T CEP135 c.1252C>T p.R418* Nonsense 11/26 -
11-117282575-C-T CEP164 c.4228C>T p.Q1410* Nonsense 32/33 -
12-88465123-C-A CEP290 c.5959G>T p.E1987* Nonsense 43/54 -
10-73767882-C-A CHST3 c.1093C>A p.R365S Missense 3/3 -
16-75512898-C-G CHST6 c.829G>C p.A277P Missense 3/3 -
16-75513384-G-A CHST6 c.343C>T p.R115C Missense 3/3 -
9-130941558-G-A CIZ1 c.928C>T p.R310* Nonsense 8/17 -
9-130941629-CG-TA CIZ1 c.856_857delCGinsTA p.R286* Nonsense 8/17 -
X-10182011-G-A CLCN4 c.1867G>A p.E623K Missense 11/13 -
16-1498391-C-T CLCN7 c.1978G>A p.G660S Missense 21/25 -
16-1507305-C-A CLCN7 c.772G>T p.A258S Missense 9/25 -
16-1507736-C-T CLCN7 c.697G>A p.G233S Missense 8/25 -
1-16350420-C-T CLCNKA c.226C>T p.R76* Nonsense 3/20 -
1-16358742-C-T CLCNKA c.1801C>T p.Q601* Nonsense 17/20 -
19-6366374-G-A CLPP c.661G>A p.E221K Missense 5/6 -
17-57762984-G-T CLTC c.4642G>T p.E1548* Nonsense 30/32 -
17-57762996-G-T CLTC c.4654G>T p.E1552* Nonsense 30/32 -
16-3554755-C-T CLUAP1 c.58C>T p.R20* Nonsense 2/12 -
8-87645045-C-T CNGB3 c.1255G>A p.E419K Missense 11/18 -
6-33152794-G-T COL11A2 c.914C>A p.S305* Nonsense 7/66 -
4-109971321-G-A COL25A1 c.382C>T p.R128* Nonsense 4/38 -
2-227917083-G-C COL4A4 c.2906C>G p.S969* Nonsense 32/48 -
2-3691072-G-A COLEC11 c.367G>A p.G123R Missense 6/7 -
1-160268666-A-C COPA c.1946T>G p.F649C Missense 19/33 -
16-19085268-A-G COQ7 c.278A>G p.H93R Missense 3/6 -
4-47680029-C-T CORIN c.1175G>A p.C392Y Missense 9/22 -
4-47685795-C-T CORIN c.974G>A p.C325Y Missense 7/22 -
4-47682226-C-T CORIN c.1064G>A p.C355Y Missense 8/22 -
1-53675952-T-G CPT2 c.606T>G p.Y202* Nonsense 4/5 -
1-207647643-G-A CR2 c.2298G>A p.W766* Nonsense 13/20 -
22-25627654-G-C CRYBB2 c.533G>C p.G178A Missense 6/6 -
5-138260288-C-T CTNNA1 c.1636C>T p.R546* Nonsense 12/18 -
20-44522702-C-A CTSA c.822C>A p.C256* Nonsense 8/15 -
10-16948208-G-A CUBN c.7906C>T p.R2636* Nonsense 50/67 -
10-16982151-G-A CUBN c.5428C>T p.R1810* Nonsense 37/67 -
2-38302015-C-A CYP1B1 c.517G>T p.E173* Nonsense 2/3 -
2-136669045-C-T DARS1 c.1249G>A p.D417N Missense 14/16 -
2-136673942-C-G DARS1 c.960G>C p.R320S Missense 11/16 -
2-136673942-C-A DARS1 c.960G>T p.R320S Missense 11/16 -
2-136681990-A-C DARS1 c.643T>G p.F215V Missense 8/16 -
9-136513028-C-T DBH c.1085C>T p.A362V Missense 6/12 -
6-24291298-G-A DCDC2 c.566C>T p.T189I Missense 5/10 -
1-162722908-A-C DDR2 c.106A>C p.M36L Missense 4/18 -
1-162724626-G-A DDR2 c.398G>A p.R133Q Missense 5/18 -
1-162724632-G-A DDR2 c.404G>A p.R135H Missense 5/18 -
1-162725004-T-C DDR2 c.476T>C p.I159T Missense 6/18 -
1-200618285-C-T DDX59 c.1384G>A p.E462K Missense 6/8 -
1-200635556-C-T DDX59 c.313G>A p.E105K Missense 2/8 -
1-200619614-C-T DDX59 c.1253G>A p.R418H Missense 5/8 -
1-55337283-C-T DHCR24 c.616G>A p.E206K Missense 5/9 -
5-13717512-C-T DNAH5 c.12617G>A p.W4206* Nonsense 73/79 -
5-13776686-G-A DNAH5 c.9235C>T p.R3079* Nonsense 55/79 -
5-13864741-C-T DNAH5 c.4361G>A p.R1454Q Missense 28/79 -
5-13919443-G-A DNAH5 c.817C>T p.Q273* Nonsense 7/79 -
5-34936257-C-A DNAJC21 c.324C>A p.Y108* Nonsense 4/12 -
5-34936257-C-G DNAJC21 c.324C>G p.Y108* Nonsense 4/12 -
19-10262093-C-T DNMT1 c.2246G>A p.W749* Nonsense 24/41 -
19-10262092-C-T DNMT1 c.2247G>A p.W749* Nonsense 24/41 -
2-25469932-G-T DNMT3A c.1110C>A p.Y370* Nonsense 9/23 -
2-25469932-G-C DNMT3A c.1110C>G p.Y370* Nonsense 9/23 -
4-3491503-C-A DOK7 c.752C>A p.A251E Missense 6/7 -
4-3491503-C-T DOK7 c.752C>T p.A251V Missense 6/7 -
15-65793031-G-T DPP8 c.459C>A p.Y153* Nonsense 4/20 -
8-105463545-G-A DPYS c.352C>T p.R118* Nonsense 2/10 -
8-105463547-C-T DPYS c.350G>A p.W117* Nonsense 2/10 -
11-117391896-C-T DSCAML1 c.1342G>A p.A388T Missense 6/33 -
11-103041639-C-T DYNC2H1 c.5176C>T p.R1726* Nonsense 34/89 -
11-19259665-A-T E2F8 c.30T>A p.C10* Nonsense 3/13 -
4-148460970-G-A EDNRA c.902G>A p.R301H Missense 6/8 -
4-148453684-G-A EDNRA c.575G>A p.R192H Missense 4/8 -
7-55214374-T-C EGFR c.500T>C p.I167T Missense 4/28 -
7-55268044-C-T EGFR c.2884C>T p.R962C Missense 24/28 -
15-40265890-C-A EIF2AK4 c.1758C>A p.Y586* Nonsense 11/39 -
15-40265890-C-G EIF2AK4 c.1758C>G p.Y586* Nonsense 11/39 -
15-40309387-C-T EIF2AK4 c.4009C>T p.R1337* Nonsense 29/39 -
1-45446770-G-A EIF2B3 c.71C>T p.P24L Missense 2/12 -
3-183855449-G-A EIF2B5 c.362G>A p.R121Q Missense 3/16 -
3-183855694-G-A EIF2B5 c.515G>A p.R172Q Missense 4/16 -
3-183859764-C-T EIF2B5 c.1208C>T p.A403V Missense 8/16 -
1-19566469-A-T EMC1 c.797T>A p.L266* Nonsense 8/23 -
1-19566469-A-C EMC1 c.797T>G p.L266* Nonsense 8/23 -
5-111570393-T-C EPB41L4A c.1025A>G p.Q342R Missense 12/23 -
5-111600663-C-G EPB41L4A c.484G>C p.E162Q Missense 6/23 -
12-56478852-G-A ERBB3 c.308G>A p.R103H Missense 3/28 -
12-56492308-G-A ERBB3 c.2641G>A p.E881K Missense 22/28 -
12-56481375-G-A ERBB3 c.562G>A p.E188K Missense 5/28 -
19-45856516-A-G ERCC2 c.1742T>C p.L581P Missense 18/23 -
19-45860755-G-A ERCC2 c.1354C>T p.Q452* Nonsense 14/23 -
19-45860760-C-T ERCC2 c.1349G>A p.R450H Missense 14/23 -
19-45864886-C-T ERCC2 c.1133G>A p.R378H Missense 12/23 -
19-45867167-C-T ERCC2 c.952G>A p.A318T Missense 11/23 -
16-14020608-G-A ERCC4 c.579G>A p.W193* Nonsense 3/11 -
10-50701183-C-T ERCC6 c.1801G>A p.G601S Missense 8/21 -
10-50701212-G-A ERCC6 c.1772C>T p.P591L Missense 8/21 -
6-152265358-AGA-TGT ESR1 c.811_813delAGAinsTGT p.R271C Missense 4/8 -
6-152420094-C-T ESR1 c.1781C>T p.T594M Missense 8/8 -
4-5664955-T-A EVC2 c.1024A>T p.K342* Nonsense 9/22 -
13-37577143-C-T EXOSC8 c.191C>T p.A64V Missense 4/11 -
13-37580084-G-A EXOSC8 c.266G>A p.C89Y Missense 6/11 -
11-44257852-C-T EXT2 c.1945C>T p.R649* Nonsense 13/14 -
6-65655687-G-A EYS c.2380C>T p.R794* Nonsense 15/43 -
1-197031092-G-T F13B c.273C>A p.C91* Nonsense 3/12 -
11-46749571-C-A F2 c.1156C>A p.P386T Missense 10/14 -
13-113769985-C-G F7 c.376C>G p.Q126E Missense 5/8 -
13-113771136-C-G F7 c.562C>G p.Q188E Missense 6/8 -
13-113773030-G-A F7 c.1043G>A p.C348Y Missense 8/8 -
8-139165385-C-A FAM135B c.1333G>T p.E445* Nonsense 13/20 -
8-144811340-G-A FAM83H c.601C>T p.Q201* Nonsense 3/5 -
16-89857830-G-A FANCA c.1340C>T p.S447L Missense 14/43 -
9-97869464-G-A FANCC c.1417C>T p.Q473* Nonsense 14/15 -
22-45937231-G-C FBLN1 c.1045G>C p.E349Q Missense 9/17 -
22-45946483-G-A FBLN1 c.1685G>A p.R562H Missense 14/17 -
22-45970420-G-A FBLN1 c.1727G>A p.R576H Missense 15/17 -
4-1807488-G-A FGFR3 c.1657G>A p.V553M Missense 13/18 -
5-176522681-C-G FGFR4 c.1778C>G p.A593G Missense 13/18 -
5-176522561-C-G FGFR4 c.1658C>G p.A553G Missense 13/18 -
5-176522701-A-G FGFR4 c.1798A>G p.M600V Missense 13/18 -
2-71012698-G-T FIGLA c.458C>A p.S153* Nonsense 3/5 -
2-71012698-G-C FIGLA c.458C>G p.S153* Nonsense 3/5 -
3-58083563-C-T FLNB c.1006C>T p.Q336* Nonsense 7/46 -
5-131034659-G-A FNIP1 c.1153C>T p.Q385* Nonsense 11/18 -
1-74835092-A-G TNNI3K c.1490A>G p.Y497C Missense 16/25 -
1-74905180-C-T TNNI3K c.1885C>T p.R629C Missense 20/25 -
4-48551547-C-T FRYL c.4727G>A p.W1576* Nonsense 39/64 -
4-48551546-C-T FRYL c.4728G>A p.W1576* Nonsense 39/64 -
3-46003824-G-T FYCO1 c.3330C>A p.C1110* Nonsense 11/18 -
17-78083792-G-C GAA c.1375G>C p.D459H Missense 9/20 -
4-47405591-T-C GABRB1 c.698T>C p.L233P Missense 7/9 -
2-171702054-C-T GAD1 c.790C>T p.R264C Missense 8/17 -
14-88406319-C-T GALC c.1841G>A p.W614* Nonsense 16/17 -
14-88406318-C-T GALC c.1842G>A p.W614* Nonsense 16/17 -
9-35741799-C-T GBA2 c.656G>A p.W219* Nonsense 4/17 -
9-35741798-C-T GBA2 c.657G>A p.W219* Nonsense 4/17 -
10-48416429-T-A GDF2 c.265A>T p.M89L Missense 1/2 -
3-158402330-C-A GFM1 c.1782C>A p.C594* Nonsense 15/18 -
X-70443624-G-A GJB1 c.67G>A p.V23I Missense 2/2 -
1-35226919-C-T GJB4 c.64C>T p.R22C Missense 2/2 -
1-35226924-C-G GJB4 c.69C>G p.I23M Missense 2/2 -
1-35227226-G-A GJB4 c.371G>A p.R124Q Missense 2/2 -
1-35227330-C-T GJB4 c.475C>T p.P159S Missense 2/2 -
1-35227363-C-T GJB4 c.508C>T p.P170S Missense 2/2 -
1-35227390-C-T GJB4 c.535C>T p.R179W Missense 2/2 -
1-35227391-G-A GJB4 c.536G>A p.R179Q Missense 2/2 -
9-6592910-C-A GLDC c.1342G>T p.E448* Nonsense 10/25 -
1-182355450-A-G GLUL c.416T>C p.L139P Missense 4/7 -
3-52325879-C-T GLYCTK c.646C>T p.R216W Missense 4/5 -
5-150646936-G-A GM2A c.506G>A p.R169H Missense 4/4 -
3-49760503-C-G GMPPB c.304G>C p.D102H Missense 4/9 -
3-49761042-C-G GMPPB c.118G>C p.A40P Missense 1/9 -
19-3119207-C-T GNA11 c.739C>T p.R247W Missense 6/7 -
16-56368661-G-A GNAO1 c.485G>A p.R162Q Missense 5/9 -
2-157370003-A-T GPD2 c.656A>T p.Y219F Missense 6/17 -
2-157413926-C-A GPD2 c.997C>A p.P333T Missense 9/17 -
8-144297001-G-A GPIHBP1 c.295G>A p.E99K Missense 3/4 -
9-37424897-C-T GRHPR c.139C>T p.R47* Nonsense 2/9 -
9-37436747-G-T GRHPR c.955G>T p.G319W Missense 9/9 -
4-94159575-T-A GRID2 c.1179T>A p.N393K Missense 8/16 -
3-7503305-G-C GRM7 c.1411G>C p.G471R Missense 7/10 -
20-33517258-G-A GSS c.1247C>T p.P416L Missense 12/13 -
20-33519142-C-T GSS c.1108G>A p.G370R Missense 11/13 -
20-33524611-T-C GSS c.722A>G p.D241G Missense 8/13 -
20-33530809-G-C GSS c.276C>G p.S92R Missense 4/13 -
20-33530809-G-T GSS c.276C>A p.S92R Missense 4/13 -
20-33533757-T-G GSS c.274A>C p.S92R Missense 3/13 -
16-27514186-A-T GTF3C1 c.1901T>A p.L634* Nonsense 11/37 -
16-27514186-A-C GTF3C1 c.1901T>G p.L634* Nonsense 11/37 -
4-156634563-G-A GUCY1A1 c.1400G>A p.W467* Nonsense 7/10 -
4-156634564-G-A GUCY1A1 c.1401G>A p.W467* Nonsense 7/10 -
7-65439382-C-T GUSB c.1291G>A p.E431K Missense 8/12 -
7-65444841-C-T GUSB c.454G>A p.D152N Missense 3/12 -
10-71868800-C-T MACROH2A2 c.790C>T p.Q264* Nonsense 8/9 -
4-108935674-G-T HADH c.349G>T p.V117L Missense 3/8 -
4-108935686-G-C HADH c.361G>C p.V121L Missense 3/8 -
4-108935686-G-T HADH c.361G>T p.V121L Missense 3/8 -
4-108948850-C-A HADH c.643C>A p.P215T Missense 6/8 -
4-108955433-C-T HADH c.865C>T p.P289S Missense 8/8 -
5-140058615-C-T HARS1 c.494G>A p.R165H Missense 5/13 -
5-140073192-T-G HARS2 c.125T>G p.L42* Nonsense 2/13 -
5-45396650-G-A HCN1 c.1174C>T p.H392Y Missense 4/8 -
1-32768258-C-T HDAC1 c.86C>T p.P29L Missense 2/14 -
1-32797135-C-A HDAC1 c.1040C>A p.P347H Missense 10/14 -
15-63950798-G-A HERC1 c.9544C>T p.Q3182* Nonsense 48/78 -
5-130495166-G-A HINT1 c.355C>T p.R119W Missense 3/3 -
6-27839843-C-G H3C11 c.251G>C p.R84P Missense 1/1 -
1-228362969-C-T IBA57 c.826C>T p.R276C Missense 3/3 -
10-71103703-A-G HK1 c.184A>G p.K62E Missense 2/18 -
10-71139778-C-G HK1 c.1192C>G p.R398G Missense 9/18 -
10-71142274-C-G HK1 c.1297C>G p.R433G Missense 10/18 -
10-71151971-G-T HK1 c.2126G>T p.W709L Missense 15/18 -
10-71152004-A-G HK1 c.2159A>G p.D720G Missense 15/18 -
10-71152001-A-G HK1 c.2156A>G p.D719G Missense 15/18 -
10-71158535-C-G HK1 c.2560C>G p.L854V Missense 17/18 -
11-118960923-G-A HMBS c.446G>A p.R149Q Missense 8/14 -
11-118960925-AG-CA HMBS c.448_449delAGinsCA p.R150Q Missense 8/14 -
12-121434371-C-T HNF1A c.1135C>T p.P379S Missense 6/10 -
17-46607103-C-T HOXB1 c.712G>A p.A238T Missense 2/2 -
1-220316291-A-T IARS2 c.2566A>T p.K856* Nonsense 21/23 -
6-52884157-C-T CILK1 c.359G>A p.G120D Missense 6/14 -
2-209108284-T-C IDH1 c.565A>G p.I189V Missense 6/10 -
20-2640779-T-C IDH3B c.812A>G p.N271S Missense 9/12 -
3-129182409-G-A IFT122 c.356G>A p.W119* Nonsense 6/30 -
3-129182410-G-A IFT122 c.357G>A p.W119* Nonsense 6/30 -
3-160075365-C-T IFT80 c.551G>A p.W184* Nonsense 7/20 -
3-160075364-C-T IFT80 c.552G>A p.W184* Nonsense 7/20 -
21-34660451-C-A IL10RB c.689C>A p.S230* Nonsense 6/7 -
3-9960285-C-T IL17RC c.457C>T p.Q153* Nonsense 5/19 -
7-128034652-C-T IMPDH1 c.1552G>A p.E518K Missense 15/17 -
7-128035298-G-C IMPDH1 c.1292C>G p.A431G Missense 13/17 -
7-128038580-G-C IMPDH1 c.962C>G p.A321G Missense 10/17 -
7-128036731-G-C IMPDH1 c.1184C>G p.A395G Missense 12/17 -
7-128035310-G-A IMPDH1 c.1280C>T p.P427L Missense 13/17 -
7-128040212-C-T IMPDH1 c.811G>A p.V271M Missense 9/17 -
13-111371966-C-T ING1 c.527C>T p.P176L Missense 2/2 -
15-41377614-G-A INO80 c.826C>T p.R276C Missense 7/36 -
9-139324736-G-A INPP5E c.1795C>T p.R599* Nonsense 9/10 -
11-71948820-C-T INPPL1 c.3532C>T p.Q1178* Nonsense 26/28 -
11-613539-G-A IRF7 c.904C>T p.Q302* Nonsense 9/11 -
16-85942708-C-T IRF8 c.287C>T p.T96M Missense 3/9 -
16-85952145-T-C IRF8 c.724T>C p.Y242H Missense 7/9 -
20-3195932-G-A ITPA c.269G>A p.W90* Nonsense 5/8 -
20-3195933-G-A ITPA c.270G>A p.W90* Nonsense 5/8 -
12-26568376-G-A ITPR2 c.7166C>T p.T2389I Missense 51/57 -
12-26818856-T-A ITPR2 c.1538A>T p.N513I Missense 14/57 -
12-26839453-T-C ITPR2 c.1109A>G p.D370G Missense 11/57 -
21-35255938-C-A ITSN1 c.4639C>A p.R1547S Missense 36/40 -
9-5066712-G-A JAK2 c.1249G>A p.G417S Missense 10/25 -
9-5072540-C-T JAK2 c.1690C>T p.R564* Nonsense 13/25 -
11-17757620-C-G KCNC1 c.71C>G p.S24W Missense 1/4 -
1-210948803-A-T KCNH1 c.1999T>A p.C667S Missense 10/11 -
1-210948802-C-G KCNH1 c.2000G>C p.C667S Missense 10/11 -
1-210948886-C-T KCNH1 c.1916G>A p.G639E Missense 10/11 -
1-210970930-C-T KCNH1 c.1835G>A p.G612E Missense 9/11 -
1-211264032-C-T KCNH1 c.311G>A p.R104K Missense 4/11 -
1-211093071-A-G KCNH1 c.1373T>C p.M458T Missense 7/11 -
1-211092990-A-G KCNH1 c.1454T>C p.M485T Missense 7/11 -
6-39271759-G-T KCNK17 c.662C>A p.T221N Missense 4/5 -
6-73713714-T-C KCNQ5 c.482T>C p.L161S Missense 2/14 -
1-215785248-C-A KCTD3 c.1547C>A p.S516* Nonsense 15/18 -
1-215785248-C-G KCTD3 c.1547C>G p.S516* Nonsense 15/18 -
12-121880639-G-A KDM2B c.2605C>T p.R869W Missense 19/23 -
16-27585233-C-T KATNIP c.19C>T p.R7* Nonsense 2/28 -
16-27709663-C-T KATNIP c.955C>T p.R319* Nonsense 9/28 -
10-32323695-T-G KIF5B c.1034A>C p.E345A Missense 11/26 -
7-129756305-C-T KLHDC10 c.274C>T p.R92* Nonsense 3/10 -
17-40003558-G-A KLHL10 c.1348G>A p.A450T Missense 4/5 -
5-136969741-G-A KLHL3 c.1435C>T p.R479C Missense 12/15 -
5-136993874-TCT-ACA KLHL3 c.847_849delAGAinsTGT p.R283C Missense 8/15 -
5-136975627-G-A KLHL3 c.943C>T p.R315C Missense 9/15 -
19-51411644-C-A KLK4 c.583G>T p.G195* Nonsense 4/5 -
3-186459441-C-A KNG1 c.1256C>A p.S419* Nonsense 10/10 -
7-98786037-G-T KPNA7 c.786C>A p.C262* Nonsense 7/11 -
14-50768850-T-A L2HGDH c.293A>T p.H98L Missense 3/10 -
18-21399890-C-T LAMA3 c.2233C>T p.R745* Nonsense 19/75 -
20-60912886-C-T LAMA5 c.2000G>A p.G667D Missense 15/80 -
20-60942163-G-A LAMA5 c.139C>T p.P47S Missense 1/80 -
3-49163299-G-T LAMB2 c.2369C>A p.S790* Nonsense 18/32 -
3-49163299-G-C LAMB2 c.2369C>G p.S790* Nonsense 18/32 -
3-49169953-G-A LAMB2 c.220C>T p.Q74* Nonsense 2/32 -
1-32742387-G-T LCK c.964G>T p.G322W Missense 9/13 -
8-19805792-G-A LPL c.190G>A p.V64M Missense 2/10 -
1-66075751-G-A LEPR c.1874G>A p.W625* Nonsense 13/20 -
1-66075752-G-A LEPR c.1875G>A p.W625* Nonsense 13/20 -
3-185237080-A-T LIPH c.736T>A p.C246S Missense 6/10 -
2-97377602-G-A LMAN2L c.668C>T p.T223M Missense 5/8 -
5-96358164-G-A LNPEP c.2537G>A p.W846* Nonsense 14/18 -
5-96358165-G-A LNPEP c.2538G>A p.W846* Nonsense 14/18 -
19-5692207-C-A LONP1 c.2716G>T p.G906W Missense 18/18 -
19-5696688-A-G LONP1 c.1766T>C p.I589T Missense 11/18 -
19-5705880-G-A LONP1 c.1270C>T p.R424C Missense 8/18 -
19-5699111-G-A LONP1 c.1612C>T p.R538C Missense 10/18 -
4-155665641-C-G LRAT c.163C>G p.R55G Missense 2/3 -
1-113638521-C-T LRIG2 c.829C>T p.R277* Nonsense 7/18 -
12-57539126-G-A LRP1 c.694G>A p.A232T Missense 6/89 -
12-57572173-G-A LRP1 c.4393G>A p.G1465S Missense 27/89 -
12-57573202-C-T LRP1 c.4829C>T p.T1610M Missense 29/89 -
12-57573645-C-A LRP1 c.5047C>A p.Q1683K Missense 30/89 -
12-57594871-T-A LRP1 c.10280T>A p.I3427N Missense 65/89 -
21-47635171-G-A LSS c.934C>T p.R312W Missense 9/22 -
21-47641788-C-T LSS c.530G>A p.R177Q Missense 5/22 -
4-103578921-C-T MANBA c.1622G>A p.W541* Nonsense 12/17 -
2-174047645-T-A MAP3K20 c.311T>A p.M104K Missense 4/20 -
2-174062811-G-A MAP3K20 c.640G>A p.V214I Missense 8/20 -
5-68715702-C-T MARVELD2 c.490C>T p.R164* Nonsense 2/7 -
10-82034340-T-C MAT1A c.1021A>G p.T341A Missense 8/9 -
3-127323999-G-C MCM2 c.673G>C p.E225Q Missense 4/16 -
8-6478981-C-T MCPH1 c.2221C>T p.R741* Nonsense 13/14 -
19-42872634-C-T MEGF8 c.6301C>T p.R2101* Nonsense 36/42 -
1-40433345-C-T MFSD2A c.1057C>T p.R353W Missense 10/14 -
X-107084395-G-A MID2 c.500G>A p.R167Q Missense 2/10 -
7-131128432-C-T MKLN1 c.1366C>T p.R456* Nonsense 11/18 -
14-23311138-C-T MMP14 c.274C>T p.R92* Nonsense 3/10 -
14-23313581-A-C MMP14 c.1013A>C p.E338A Missense 7/10 -
2-202545582-G-C MPP4 c.908C>G p.P303R Missense 10/22 -
2-202545714-G-C MPP4 c.776C>G p.P259R Missense 10/22 -
2-202545682-A-G MPP4 c.808T>C p.F270L Missense 10/22 -
17-60757241-G-A MRC2 c.2276G>A p.W759* Nonsense 14/30 -
17-60757242-G-A MRC2 c.2277G>A p.W759* Nonsense 14/30 -
6-31726340-A-G MSH5 c.1159A>G p.S387G Missense 14/25 -
4-166261443-T-C MSMO1 c.602T>C p.I201T Missense 5/6 -
1-93576183-G-T MTF2 c.286G>T p.G96* Nonsense 3/15 -
19-50771512-G-A MYH14 c.2921G>A p.R974H Missense 24/43 -
14-23853809-C-A MYH6 c.5407G>T p.E1803* Nonsense 36/39 -
17-18024533-C-T MYO15A c.2419C>T p.Q807* Nonsense 2/66 -
17-18024813-G-A MYO15A c.2699G>A p.W900* Nonsense 2/66 -
17-18024814-G-A MYO15A c.2700G>A p.W900* Nonsense 2/66 -
22-26304337-C-T MYO18B c.5197C>T p.Q1733* Nonsense 32/44 -
22-26422866-C-A MYO18B c.6926C>A p.S2309* Nonsense 43/44 -
22-26422866-C-G MYO18B c.6926C>G p.S2309* Nonsense 43/44 -
10-26359062-C-A MYO3A c.1193C>A p.S398* Nonsense 13/35 -
1-171605322-T-A MYOC c.1258A>T p.N420Y Missense 3/3 -
1-171605330-C-A MYOC c.1250G>T p.W417L Missense 3/3 -
11-78154733-G-C NARS2 c.1236C>G p.Y412* Nonsense 12/14 -
5-60394822-G-A NDUFAF2 c.221G>A p.W74* Nonsense 3/4 -
2-207011681-A-G NDUFS1 c.683T>C p.V228A Missense 8/19 -
2-207011789-A-G NDUFS1 c.575T>C p.V192A Missense 8/19 -
11-47603664-C-T NDUFS3 c.406C>T p.R136C Missense 5/7 -
11-67803759-C-T NDUFS8 c.412C>T p.R138C Missense 6/7 -
11-67803828-C-A NDUFS8 c.481C>A p.P161T Missense 6/7 -
11-67803843-G-A NDUFS8 c.496G>A p.V166I Missense 6/7 -
4-170345796-G-A NEK1 c.3130C>T p.R1044* Nonsense 31/36 -
4-170477159-G-A NEK1 c.1354C>T p.Q452* Nonsense 17/36 -
2-219942018-G-A NHEJ1 c.775C>T p.Q259* Nonsense 7/8 -
19-54318207-G-A NLRP12 c.325C>T p.Q109* Nonsense 2/10 -
7-37924000-G-T NME8 c.1090G>T p.E364* Nonsense 13/18 -
7-37936584-C-T NME8 c.1657C>T p.R553* Nonsense 17/18 -
1-10032154-A-C NMNAT1 c.23A>C p.E8A Missense 2/5 -
1-10032168-G-A NMNAT1 c.37G>A p.A13T Missense 2/5 -
1-10042508-A-G NMNAT1 c.589A>G p.I197V Missense 5/5 -
1-10042553-G-A NMNAT1 c.634G>A p.V212M Missense 5/5 -
17-54671714-G-C NOG c.130G>C p.V44L Missense 1/1 -
17-54671714-G-T NOG c.130G>T p.V44L Missense 1/1 -
17-54671787-C-T NOG c.203C>T p.S68L Missense 1/1 -
19-36336604-G-A NPHS1 c.1724C>T p.P575L Missense 13/29 -
5-142680079-G-T NR3C1 c.1718C>A p.A573E Missense 5/9 -
5-142680076-G-T NR3C1 c.1721C>A p.A574E Missense 5/9 -
5-142689678-AG-CT NR3C1 c.1451_1452delCTinsAG p.A484E Missense 4/9 -
5-37310686-G-C NUP155 c.2596C>G p.L866V Missense 23/35 -
5-37337981-T-A NUP155 c.1286A>T p.D429V Missense 12/35 -
11-3740666-G-A NUP98 c.2375C>T p.P792L Missense 18/33 -
10-50947708-A-G OGDHL c.2318T>C p.M773T Missense 17/23 -
3-9793529-G-A OGG1 c.461G>A p.R154H Missense 3/7 -
8-145114778-C-T OPLAH c.158G>A p.R53H Missense 2/28 -
2-148695732-T-A ORC4 c.1105A>T p.K369* Nonsense 13/14 -
6-108385409-C-T OSTM1 c.497G>A p.W166* Nonsense 2/6 -
6-108385408-C-T OSTM1 c.498G>A p.W166* Nonsense 2/6 -
8-92090748-T-A OTUD6B c.570T>A p.Y160* Nonsense 4/7 -
8-92090748-T-G OTUD6B c.480T>G p.Y160* Nonsense 4/7 -
5-41762227-C-T OXCT1 c.1324G>A p.E442K Missense 14/17 -
10-34985299-C-T PARD3 c.169G>A p.G57R Missense 2/25 -
10-34985299-C-G PARD3 c.169G>C p.G57R Missense 2/25 -
3-136016902-G-A PCCB c.872G>A p.C291Y Missense 8/15 -
14-24566139-C-G PCK2 c.68C>G p.S23* Nonsense 2/10 -
14-24566162-C-T PCK2 c.91C>T p.R31* Nonsense 2/10 -
21-47817328-C-T PCNT c.4366C>T p.Q1456* Nonsense 22/47 -
21-47831979-C-T PCNT c.5992C>T p.Q1998* Nonsense 28/47 -
5-58285662-C-G PDE4D c.1372G>C p.D458H Missense 10/15 -
5-58511751-C-G PDE4D c.499G>C p.D167H Missense 2/15 -
5-58511784-C-G PDE4D c.466G>C p.D156H Missense 2/15 -
1-64101908-C-T PGM1 c.877C>T p.R293* Nonsense 6/11 -
1-120263830-T-G PHGDH c.176T>G p.V59G Missense 2/12 -
1-120277956-G-T PHGDH c.682G>T p.G228W Missense 7/12 -
16-88783580-C-A PIEZO1 c.6511G>T p.V2171F Missense 45/51 -
4-515631-G-A PIGG c.1515G>A p.W505* Nonsense 8/13 -
19-18273240-C-T PIK3R2 c.1033C>T p.R345W Missense 9/16 -
7-47847855-G-C PKD1L1 c.7817C>G p.S2606* Nonsense 52/57 -
4-88964387-G-A PKD2 c.1097G>A p.W366* Nonsense 5/15 -
4-88964388-G-A PKD2 c.1098G>A p.W366* Nonsense 5/15 -
11-64032487-C-A PLCB3 c.2717C>A p.S906* Nonsense 23/31 -
11-64032487-C-G PLCB3 c.2717C>G p.S906* Nonsense 23/31 -
1-6528354-G-A PLEKHG5 c.2542C>T p.R848* Nonsense 20/21 -
17-15142901-A-G PMP22 c.206T>C p.M69T Missense 4/5 -
10-118315551-A-G PNLIP c.851A>G p.Y284C Missense 9/13 -
12-89885848-C-T POC1B c.317G>A p.R106Q Missense 4/12 -
15-89870450-T-A POLG c.1381A>T p.K461* Nonsense 7/23 -
9-133543692-G-A PRDM12 c.562G>A p.A188T Missense 3/5 -
9-133556854-G-A PRDM12 c.902G>A p.C301Y Missense 5/5 -
4-121738060-T-A PRDM5 c.670A>T p.K224* Nonsense 6/16 -
4-81122553-G-C PRDM8 c.329G>C p.G110A Missense 3/4 -
4-81124567-G-C PRDM8 c.1951G>C p.E651Q Missense 4/4 -
19-54386447-A-T PRKCG c.201A>T p.Q67H Missense 2/18 -
19-54386447-A-C PRKCG c.201A>C p.Q67H Missense 2/18 -
14-30107992-G-A PRKD1 c.815C>T p.T272I Missense 5/18 -
1-150325376-G-A PRPF3 c.1973G>A p.R658H Missense 16/16 -
19-40900754-G-A PRX c.3505C>T p.Q1169* Nonsense 7/7 -
7-56087408-C-T PSPH c.160G>A p.G54R Missense 5/8 -
7-77221557-C-G PTPN12 c.476C>G p.P159R Missense 6/18 -
14-51378913-G-A PYGL c.1729C>T p.Q577* Nonsense 14/20 -
4-17488827-C-T QDPR c.662G>A p.R221Q Missense 7/7 -
2-135891575-C-T RAB3GAP1 c.1471C>T p.R491* Nonsense 15/24 -
8-95390578-T-C RAD54B c.2345A>G p.Q782R Missense 14/15 -
1-46726950-C-T RAD54L c.784C>T p.R262C Missense 8/18 -
1-46740280-G-A RAD54L c.1760G>A p.R587Q Missense 16/18 -
11-64502699-A-G RASGRP2 c.1297T>C p.S433P Missense 12/17 -
11-64504331-T-C RASGRP2 c.989A>G p.N330S Missense 9/17 -
12-56114973-G-A RDH5 c.5G>A p.W2* Nonsense 2/5 -
12-56114974-G-A RDH5 c.6G>A p.W2* Nonsense 2/5 -
1-8421550-C-T RERE c.2017G>A p.E673K Missense 18/23 -
1-8716080-C-T RERE c.277G>A p.E93K Missense 2/23 -
3-196214416-C-A RNF168 c.412G>T p.E138* Nonsense 3/6 -
11-124745041-G-A ROBO3 c.2108G>A p.R703Q Missense 14/28 -
11-62381042-C-T ROM1 c.289C>T p.R97* Nonsense 1/3 -
11-62381863-C-T ROM1 c.724C>T p.R242* Nonsense 2/3 -
X-18665373-C-G RS1 c.264G>C p.Q88H Missense 4/6 -
9-137300846-G-A RXRA c.491G>A p.R164H Missense 4/10 -
9-137300927-G-A RXRA c.572G>A p.R191H Missense 4/10 -
19-10334863-C-T S1PR2 c.719G>A p.G240D Missense 2/2 -
7-92732829-T-A SAMD9 c.2582A>T p.E861V Missense 3/3 -
14-95085581-C-A SERPINA3 c.693C>A p.F231L Missense 3/5 -
7-92733157-A-T SAMD9 c.2254T>A p.W752R Missense 3/3 -
7-92733201-T-C SAMD9 c.2210A>G p.H737R Missense 3/3 -
11-121177193-A-G SC5D c.442A>G p.K148E Missense 4/5 -
11-121178007-A-G SC5D c.686A>G p.H229R Missense 5/5 -
17-62045520-C-T SCN4A c.899G>A p.W300* Nonsense 6/24 -
17-62045519-C-T SCN4A c.900G>A p.W300* Nonsense 6/24 -
1-243468035-T-G SDCCAG8 c.696T>G p.Y232* Nonsense 7/18 -
14-39534163-C-A SEC23A c.1262G>T p.G421V Missense 11/20 -
14-39532577-C-A SEC23A c.1349G>T p.G450V Missense 12/20 -
14-39545273-G-A SEC23A c.853C>T p.R285C Missense 8/20 -
14-95085579-T-C SERPINA3 c.691T>C p.F231L Missense 3/5 -
14-95085581-C-G SERPINA3 c.693C>G p.F231L Missense 3/5 -
X-105278335-G-A SERPINA7 c.935C>T p.A312V Missense 4/5 -
1-173878734-A-G SERPINC1 c.1109T>C p.M370T Missense 5/7 -
1-173883797-G-C SERPINC1 c.302C>G p.S101C Missense 2/7 -
5-138287500-G-A SIL1 c.841C>T p.Q281* Nonsense 8/10 -
11-2924670-T-C SLC22A18 c.95T>C p.L32P Missense 2/11 -
11-2929502-G-T SLC22A18 c.184G>T p.G62C Missense 3/11 -
11-2946254-C-T SLC22A18 c.1102C>T p.L368F Missense 11/11 -
15-48431283-G-A SLC24A5 c.989G>A p.W330* Nonsense 7/9 -
10-70246947-G-A SLC25A16 c.796C>T p.R266W Missense 8/9 -
17-73282760-G-A SLC25A19 c.86C>T p.T29I Missense 3/8 -
3-39433446-C-T SLC25A38 c.559C>T p.R187* Nonsense 5/7 -
19-19217145-T-C SLC25A42 c.448T>C p.Y150H Missense 6/8 -
5-110075080-G-A SLC25A46 c.260G>A p.G87D Missense 1/8 -
5-110096971-G-A SLC25A46 c.746G>A p.G249D Missense 8/8 -
5-110074927-GG-AC SLC25A46 c.107_108delGGinsAC p.G36D Missense 1/8 -
6-35945057-A-G SLC26A8 c.1097T>C p.L366S Missense 9/20 -
9-131117454-C-T SLC27A4 c.1447C>T p.Q483* Nonsense 10/13 -
1-100480947-C-T SLC35A3 c.724C>T p.R242* Nonsense 6/8 -
12-56630264-C-T SLC39A5 c.1030C>T p.Q344* Nonsense 9/13 -
2-44528226-C-T SLC3A1 c.1096C>T p.Q366* Nonsense 6/10 -
4-72121023-A-T SLC4A4 c.160A>T p.K54* Nonsense 3/26 -
7-128846083-C-G SMO c.1013C>G p.A338G Missense 5/12 -
7-128846119-A-G SMO c.1049A>G p.Y350C Missense 5/12 -
7-128849142-T-C SMO c.1370T>C p.F457S Missense 8/12 -
11-6413349-G-T SMPD1 c.1054G>T p.E352* Nonsense 2/6 -
5-122163131-C-T SNX2 c.1414C>T p.R472* Nonsense 13/15 -
21-33036166-T-C SOD1 c.136T>C p.F46L Missense 2/5 -
21-33036168-C-A SOD1 c.138C>A p.F46L Missense 2/5 -
21-33036168-C-G SOD1 c.138C>G p.F46L Missense 2/5 -
21-33038785-T-C SOD1 c.193T>C p.F65L Missense 3/5 -
21-33038800-A-G SOD1 c.208A>G p.R70G Missense 3/5 -
21-33039594-T-C SOD1 c.263T>C p.V88A Missense 4/5 -
21-33040800-A-G SOD1 c.374A>G p.D125G Missense 5/5 -
21-33040883-G-A SOD1 c.457G>A p.A153T Missense 5/5 -
4-24801349-C-T SOD3 c.206C>T p.A69V Missense 2/2 -
2-32362014-G-T SPAST c.1390G>T p.E464* Nonsense 11/17 -
2-32361680-G-T SPAST c.1294G>T p.E432* Nonsense 10/17 -
12-49918500-C-T SPATS2 c.1147C>T p.R383* Nonsense 13/14 -
22-24810547-G-A SPECC1L c.3310G>A p.V1104M Missense 17/17 -
20-13140687-G-A SPTLC3 c.1453G>A p.V485M Missense 11/12 -
8-74621271-G-T STAU2 c.110C>A p.S37* Nonsense 4/15 -
8-74621271-G-C STAU2 c.110C>G p.S37* Nonsense 4/15 -
20-43629126-C-T STK4 c.925C>T p.Q309* Nonsense 8/11 -
3-4494720-G-A SUMF1 c.284C>T p.P95L Missense 2/9 -
12-56397769-C-T SUOX c.596C>T p.P199L Missense 5/5 -
12-56397802-C-T SUOX c.629C>T p.P210L Missense 5/5 -
12-56397822-C-T SUOX c.649C>T p.R217W Missense 5/5 -
12-56398248-C-T SUOX c.1075C>T p.R359C Missense 5/5 -
12-56398270-G-A SUOX c.1097G>A p.R366H Missense 5/5 -
6-32815422-A-G TAP1 c.1951T>C p.F591L Missense 9/11 -
6-32815420-A-T TAP1 c.1773T>A p.F591L Missense 9/11 -
6-32815420-A-C TAP1 c.1773T>G p.F591L Missense 9/11 -
6-32815422-A-C TAP1 c.1951T>G p.F591V Missense 9/11 -
6-32816448-G-A TAP1 c.1727C>T p.P516L Missense 7/11 -
6-32816488-C-A TAP1 c.1687G>T p.V503F Missense 7/11 -
6-32818813-T-C TAP1 c.1138A>G p.M320V Missense 4/11 -
6-32819948-T-G TAP1 c.962A>C p.Q261P Missense 3/11 -
16-71609825-C-T TAT c.340G>A p.G114S Missense 3/12 -
12-64891021-T-A TBK1 c.1941T>A p.Y647* Nonsense 18/21 -
12-64891021-T-G TBK1 c.1941T>G p.Y647* Nonsense 18/21 -
11-121000698-C-T TECTA c.2719C>T p.R907* Nonsense 10/24 -
16-1552987-G-A TELO2 c.1826G>A p.R609H Missense 15/21 -
11-78380192-T-C TENM4 c.7198A>G p.I2400V Missense 32/34 -
3-133475780-C-T TF c.797C>T p.P266L Missense 7/17 -
10-60154776-A-T TFAM c.683A>T p.K228M Missense 7/7 -
3-195789807-C-G TFRC c.1322G>C p.G441A Missense 12/19 -
13-95243112-T-A TGDS c.308A>T p.H103L Missense 4/12 -
16-3076413-A-G THOC6 c.410A>G p.K137R Missense 6/13 -
16-3076692-G-A THOC6 c.496G>A p.G166S Missense 8/13 -
13-52971367-C-A THSD1 c.1021G>T p.E341* Nonsense 3/5 -
4-166978426-G-T TLL1 c.1811G>T p.G604V Missense 14/21 -
4-166981213-G-T TLL1 c.1880G>T p.G627V Missense 15/21 -
4-166996129-A-G TLL1 c.2288A>G p.H763R Missense 17/21 -
9-35718889-G-A TLN1 c.1915C>T p.Q639* Nonsense 17/57 -
6-31544981-G-T TNF c.369G>T p.Q123H Missense 4/4 -
6-31544981-G-C TNF c.369G>C p.Q123H Missense 4/4 -
6-31545193-T-A TNF c.581T>A p.I194N Missense 4/4 -
17-16843692-G-T TNFRSF13B c.579C>A p.C193* Nonsense 4/5 -
1-1148443-G-A TNFRSF4 c.299C>T p.T100M Missense 3/7 -
3-189587160-CGA-TGT TP63 c.1177_1179delCGAinsTGT p.R393C Missense 9/14 -
3-189612062-G-A TP63 c.1814G>A p.R605Q Missense 14/14 -
12-6979237-C-T TPI1 c.568C>T p.R190* Nonsense 6/7 -
11-6636123-G-A TPP1 c.1525C>T p.Q509* Nonsense 12/13 -
2-239233992-G-T TRAF3IP1 c.169G>T p.E57* Nonsense 2/17 -
4-184587545-C-T TRAPPC11 c.340C>T p.Q114* Nonsense 3/30 -
4-184605949-C-T TRAPPC11 c.1522C>T p.Q508* Nonsense 15/30 -
6-123687319-G-A TRDN c.1282C>T p.R428* Nonsense 20/41 -
4-122854142-G-C TRPC3 c.271C>G p.R91G Missense 2/12 -
12-110226215-C-T TRPV4 c.2198G>A p.W733* Nonsense 13/16 -
16-89999027-T-A TUBB3 c.106T>A p.Y36N Missense 2/4 -
16-90001497-G-A TUBB3 c.638G>A p.R213H Missense 4/4 -
6-35467877-A-G TULP1 c.1376T>C p.I459T Missense 14/15 -
11-88911756-G-A TYR c.635G>A p.R212K Missense 1/5 -
9-12695547-G-T TYRP1 c.418G>T p.E140* Nonsense 3/8 -
1-202304124-G-C UBE2T c.172C>G p.P58A Missense 3/7 -
4-41263938-C-T UCHL1 c.457C>T p.R153W Missense 6/9 -
17-33477096-G-T UNC45B c.235G>T p.A79S Missense 4/20 -
17-33510446-G-A UNC45B c.2374G>A p.V792I Missense 19/20 -
12-109541249-C-G UNG c.634C>G p.L212V Missense 6/7 -
11-17530905-T-A USH1C c.2011A>T p.K671* Nonsense 18/27 -
1-215848679-G-A USH2A c.12574C>T p.R4192C Missense 63/72 -
6-31759513-C-G VARS1 c.974G>C p.R325P Missense 8/30 -
9-35064264-T-G VCP c.595A>C p.N199H Missense 6/17 -
12-48238705-G-C VDR c.1108C>G p.R370G Missense 10/10 -
12-48238711-G-A VDR c.1102C>T p.R368C Missense 10/10 -
12-48251450-A-G VDR c.299T>C p.V100A Missense 5/10 -
12-48272845-G-A VDR c.52C>T p.R18W Missense 3/10 -
16-31102520-C-T VKORC1 c.427G>A p.V143M Missense 3/3 -
11-118940182-G-A VPS11 c.364G>A p.G122S missense_variant 4/17 -
11-118941057-C-G VPS11 c.583C>G p.Q195E missense_variant 5/17 -
11-118948633-C-G VPS11 c.1615C>G p.Q539E missense_variant 11/17 -
11-118948634-A-G VPS11 c.1616A>G p.Q539R missense_variant 11/17 -
11-118949519-T-C VPS11 c.2075T>C p.M692T missense_variant 14/17 -
11-118949572-C-T VPS11 c.2128C>T p.R710C missense_variant 14/17 -
11-118949623-G-A VPS11 c.2179G>A p.A727T missense_variant 14/17 -
11-118949623-G-C VPS11 c.2179G>C p.A727P missense_variant 14/17 -
11-118949623-G-T VPS11 c.2179G>T p.A727S missense_variant 14/17 -
11-118949901-C-A VPS11 c.2326C>A p.Q776K missense_variant 15/17 -
15-62199549-G-A VPS13C c.9019C>T p.R3007* Nonsense 66/85 -
1-150049784-G-A VPS45 c.614G>A p.R205H Missense 7/15 -
1-150053494-C-T VPS45 c.758C>T p.P253L Missense 8/15 -
5-132099979-A-G SEPTIN8 c.284T>C p.V95A Missense 3/10 -
2-20145702-G-A WDR35 c.1690C>T p.R564* Nonsense 16/27 -
7-158662599-G-A DYNC2I1 c.69G>A p.W23* Nonsense 2/25 -
22-41320390-C-G XPNPEP3 c.1261C>G p.H421D Missense 9/10 -
22-41320442-G-A XPNPEP3 c.1313G>A p.R438H Missense 9/10 -
1-180775217-T-C XPR1 c.467T>C p.F156S Missense 5/15 -
2-98341664-A-G ZAP70 c.512A>G p.E171G Missense 4/14 -
2-98351783-C-T ZAP70 c.1153C>T p.R385C Missense 10/14 -
14-105267650-G-C ZBTB42 c.116G>C p.R39P Missense 1/1 -
14-105267685-C-T ZBTB42 c.151C>T p.L51F Missense 1/1 -
1-52703892-C-A ZFYVE9 c.803C>A p.S268* Nonsense 4/19 -
1-52703892-C-G ZFYVE9 c.803C>G p.S268* Nonsense 4/19 -
17-4645715-G-A ZMYND15 c.1073G>A p.W358* Nonsense 5/14 -
17-4645716-G-A ZMYND15 c.1074G>A p.W358* Nonsense 5/14 -
17-4647310-G-A ZMYND15 c.1403G>A p.W468* Nonsense 8/14 -
1-220960497-G-A MTARC1 c.211G>A p.G71R Missense 1/7 -
1-220936372-G-A MTARC2 c.730G>A p.G244S Missense 4/8 -
19-8503282-G-A MARCHF2 c.593G>A p.R198H Missense 5/5 -
5-10377927-C-T MARCHF6 c.37C>T p.R13W Missense 2/26 -
12-58152378-C-T MARCHF9 c.739C>T p.R247C Missense 4/4 -
12-58152660-A-G MARCHF9 c.1021A>G p.M341V Missense 4/4 -
17-60802418-C-T MARCHF10 c.1985G>A p.C662Y Missense 7/11 -
22-19708122-A-G SEPTIN5 c.548A>G p.N183S Missense 7/12 -
X-118771108-G-C SEPTIN6 c.838C>G p.R280G Missense 7/11 -
X-118797599-A-G SEPTIN6 c.187T>C p.F63L Missense 3/11 -
5-132097207-C-T SEPTIN8 c.905G>A p.R302H Missense 7/10 -
5-132101148-A-G SEPTIN8 c.104T>C p.V35A Missense 2/10 -
5-132100013-G-A SEPTIN8 c.250C>T p.R84W Missense 3/10 -
5-132101185-C-T SEPTIN8 c.67G>A p.G23S Missense 2/10 -
17-75478411-G-A SEPTIN9 c.907G>A p.V303M Missense 4/12 -
2-110323408-C-T SEPTIN10 c.791G>A p.S264N Missense 7/11 -
2-110342825-TGA-GTT SEPTIN10 c.289_291delTCAinsAAC p.S97N Missense 4/11 -
2-110342893-T-C SEPTIN10 c.223A>G p.T75A Missense 4/11 -
16-4833669-C-T SEPTIN12 c.611G>A p.R204Q Missense 6/10 -
16-4833938-C-T SEPTIN12 c.506G>A p.G169E Missense 5/10 -
16-4835841-G-A SEPTIN12 c.341C>T p.P114L Missense 4/10 -
16-4836064-A-C SEPTIN12 c.209T>G p.F70C Missense 3/10 -
7-55914237-C-T SEPTIN14 c.148G>A p.G50R Missense 3/10 -
7-55914237-C-G SEPTIN14 c.148G>C p.G50R Missense 3/10 -
19-58862780-G-A A1BG c.887C>T p.P296L Missense 5/8 -
12-9221342-C-T A2M c.4360G>A p.E1454K Missense 34/36 -
12-9224998-C-T A2M c.4060G>A p.E1354K Missense 31/36 -
12-9222385-G-A A2M c.4219C>T p.R1407W Missense 33/36 -
12-9232312-T-C A2M c.2954A>G p.Y985C Missense 24/36 -
12-9251244-C-G A2M c.1810G>C p.V604L Missense 15/36 -
12-9251244-C-A A2M c.1810G>T p.V604L Missense 15/36 -
12-9251262-G-A A2M c.1792C>T p.R598C Missense 15/36 -
12-9259164-G-T A2M c.917C>A p.T306N Missense 9/36 -
12-9262475-C-T A2M c.661G>A p.V221M Missense 6/36 -
12-9262615-C-T A2M c.521G>A p.R174H Missense 6/36 -
12-9004388-G-A A2ML1 c.2243G>A p.G748E Missense 19/36 -
12-9009820-G-A A2ML1 c.2909G>A p.C970Y Missense 24/36 -
12-9009835-T-C A2ML1 c.2924T>C p.M975T Missense 24/36 -
12-9013481-G-A A2ML1 c.3269G>A p.G1090D Missense 27/36 -
22-43089668-G-A A4GALT c.290C>T p.S97L Missense 3/3 -
12-53701466-G-A AAAS c.1448C>T p.P483L Missense 16/16 -
12-53702520-G-A AAAS c.1076C>T p.P359L Missense 11/16 -
12-53701695-C-G AAAS c.1350G>C p.E450D Missense 15/16 -
12-53701857-G-C AAAS c.1310C>G p.P437R Missense 14/16 -
12-53702581-C-G AAAS c.1015G>C p.D339H Missense 11/16 -
12-53702751-C-T AAAS c.989G>A p.R330H Missense 10/16 -
12-53708133-C-G AAAS c.638G>C p.C213S Missense 7/16 -
12-125561098-A-G AACS c.299A>G p.N100S Missense 3/18 -
12-125609273-G-A AACS c.1144G>A p.A382T Missense 11/18 -
12-125609529-A-G AACS c.1268A>G p.Y423C Missense 12/18 -
3-151535176-G-A AADAC c.161G>A p.G54E Missense 2/5 -
3-151458626-C-G AADACL2 c.331C>G p.H111D Missense 2/5 -
1-12785608-T-A AADACL3 c.869T>A p.I290N missense_variant 4/4 -
1-12726496-C-G AADACL4 c.974C>G p.P325R Missense 4/4 -
9-99404124-G-C PRXL2C c.598C>G p.H200D Missense 6/6 -
9-99417386-C-T PRXL2C c.178G>A p.V60M Missense 1/6 -
2-219132282-C-A AAMP c.329G>T p.G110V Missense 3/11 -
2-219132279-C-A AAMP c.332G>T p.G111V Missense 3/11 -
2-219134188-C-A AAMP c.191G>T p.G64V Missense 2/11 -
17-74464920-C-T AANAT c.92C>T p.T31I Missense 2/4 -
17-74465302-C-T AANAT c.211C>T p.R71W Missense 3/4 -
16-70286740-C-T AARS1 c.2791G>A p.G931S Missense 21/21 -
16-70295023-C-A AARS1 c.1709G>T p.G570V Missense 13/21 -
16-70304215-G-A AARS1 c.700C>T p.P234S Missense 6/21 -
16-70305774-C-T AARS1 c.581G>A p.R194Q Missense 5/21 -
16-70305830-G-C AARS1 c.525C>G p.F175L Missense 5/21 -
6-44270870-C-T AARS2 c.2188G>A p.V730M Missense 16/22 -
6-44272177-C-T AARS2 c.1846G>A p.V616M Missense 13/22 -
6-44272836-C-G AARS2 c.1534G>C p.D512H Missense 11/22 -
17-41107982-T-G PTGES3L-AARSD1 c.1010A>C p.K337T Missense 12/17 -
17-41116127-C-T AARSD1 c.167G>A p.G56E Missense 2/12 -
17-41116242-C-T AARSD1 c.52G>A p.V18M Missense 2/12 -
4-57209093-G-A AASDH c.2815C>T p.P939S Missense 14/15 -
4-57204933-G-A AASDH c.2932C>T p.P978S Missense 15/15 -
4-57237713-A-C AASDH c.765T>G p.S255R Missense 5/15 -
4-57244392-T-A AASDH c.590A>T p.H197L Missense 4/15 -
7-121755144-G-C AASS c.1027C>G p.P343A Missense 9/24 -
7-121755199-A-C AASS c.972T>G p.D324E Missense 9/24 -
7-121755199-A-T AASS c.972T>A p.D324E Missense 9/24 -
7-121758435-T-A AASS c.613A>T p.I205L Missense 6/24 -
7-121769422-A-G AASS c.380T>C p.L127P Missense 3/24 -
17-79093198-C-A AATK c.4066G>T p.D1356Y Missense 13/14 -
17-79094984-C-T AATK c.2752G>A p.E918K Missense 11/14 -
17-79096100-C-G AATK c.1636G>C p.D546H Missense 11/14 -
17-79098785-G-A AATK c.785C>T p.T262M Missense 8/14 -
17-79100330-G-A AATK c.652C>T p.R218W Missense 7/14 -
17-79104986-C-G AATK c.209G>C p.G70A Missense 3/14 -
9-107554275-T-C ABCA1 c.5762A>G p.Y1921C Missense 43/50 -
9-107573154-C-T ABCA1 c.4102G>A p.V1368M Missense 29/50 -
9-107574874-C-T ABCA1 c.4031G>A p.R1344Q Missense 28/50 -
9-107582258-T-C ABCA1 c.3053A>G p.D1018G Missense 21/50 -
9-107582289-C-T ABCA1 c.3022G>A p.V1008M Missense 21/50 -
9-107588128-T-C ABCA1 c.2378A>G p.Y793C Missense 17/50 -
9-107593245-T-C ABCA1 c.1853A>G p.Y618C Missense 14/50 -
9-107651440-T-C ABCA1 c.103A>G p.I35V Missense 3/50 -
2-215798885-C-T ABCA12 c.7597G>A p.A2533T Missense 52/53 -
2-215813822-T-G ABCA12 c.6904A>C p.M2302L Missense 46/53 -
2-215813822-T-A ABCA12 c.6904A>T p.M2302L Missense 46/53 -
2-215818762-C-T ABCA12 c.6463G>A p.G2155S Missense 44/53 -
2-215821412-C-T ABCA12 c.6208G>A p.V2070I Missense 42/53 -
2-215831644-G-A ABCA12 c.5812C>T p.P1938S Missense 39/53 -
2-215833458-T-C ABCA12 c.5764A>G p.R1922G Missense 38/53 -
2-215835034-A-G ABCA12 c.5653T>C p.Y1885H Missense 37/53 -
2-215840669-G-A ABCA12 c.5221C>T p.R1741C Missense 34/53 -
2-215848503-C-T ABCA12 c.4250G>A p.R1417Q Missense 29/53 -
2-215882820-A-C ABCA12 c.1694T>G p.L565R Missense 14/53 -
2-215928906-A-T ABCA12 c.200T>A p.F67Y Missense 3/53 -
7-48232580-T-C ABCA13 c.94T>C p.W32R Missense 2/62 -
7-48288897-G-A ABCA13 c.1954G>A p.E652K Missense 15/62 -
7-48311533-T-G ABCA13 c.2270T>G p.F757C Missense 17/62 -
7-48311884-C-T ABCA13 c.2621C>T p.S874F Missense 17/62 -
7-48312723-T-G ABCA13 c.3460T>G p.W1154G Missense 17/62 -
7-48314389-T-C ABCA13 c.5126T>C p.L1709P Missense 17/62 -
7-48317849-T-A ABCA13 c.7058T>A p.F2353Y Missense 18/62 -
7-48352767-T-C ABCA13 c.9620T>C p.L3207P Missense 25/62 -
7-48353991-A-G ABCA13 c.9844A>G p.I3282V Missense 26/62 -
7-48356757-C-T ABCA13 c.9863C>T p.P3288L Missense 27/62 -
7-48378029-T-A ABCA13 c.10181T>A p.L3394H Missense 29/62 -
7-48390326-G-A ABCA13 c.10291G>A p.V3431M Missense 30/62 -
7-48391927-C-G ABCA13 c.10531C>G p.Q3511E Missense 31/62 -
7-48411772-G-A ABCA13 c.10811G>A p.R3604Q Missense 33/62 -
7-48414004-C-A ABCA13 c.11194C>A p.Q3732K Missense 34/62 -
7-48431604-G-C ABCA13 c.11741G>C p.R3914T Missense 38/62 -
7-48450140-C-T ABCA13 c.12094C>T p.H4032Y Missense 40/62 -
7-48450185-C-G ABCA13 c.12139C>G p.L4047V Missense 40/62 -
7-48520660-C-G ABCA13 c.13003C>G p.P4335A Missense 46/62 -
7-48520702-T-C ABCA13 c.13045T>C p.S4349P Missense 46/62 -
7-48547481-C-T ABCA13 c.13360C>T p.R4454C Missense 50/62 -
7-48547511-C-A ABCA13 c.13390C>A p.L4464M Missense 50/62 -
7-48550771-C-T ABCA13 c.13616C>T p.T4539M Missense 51/62 -
7-48556342-G-A ABCA13 c.13662G>A p.M4554I Missense 52/62 -
7-48556448-C-T ABCA13 c.13768C>T p.R4590W Missense 52/62 -
9-139909992-G-A ABCA2 c.3571C>T p.R1191C Missense 24/49 -
9-139910168-G-A ABCA2 c.3473C>T p.A1158V Missense 23/49 -
9-139910287-G-T ABCA2 c.3354C>A p.H1118Q Missense 23/49 -
9-139910287-G-C ABCA2 c.3354C>G p.H1118Q Missense 23/49 -
9-139910786-C-A ABCA2 c.3061G>T p.V1021F Missense 21/49 -
9-139910787-CAC-AAA ABCA2 c.3058_3060delGTGinsTTT p.V1020F Missense 21/49 -
9-139910828-C-T ABCA2 c.3019G>A p.A1007T Missense 21/49 -
9-139911032-G-A ABCA2 c.2917C>T p.R973C Missense 20/49 -
9-139911033-CCG-ACA ABCA2 c.2914_2916delCGGinsTGT p.R972C Missense 20/49 -
16-2328293-G-A ABCA3 c.4714C>T p.H1572Y Missense 30/33 -
16-2329055-A-G ABCA3 c.4436T>C p.M1479T Missense 29/33 -
16-2334358-T-C ABCA3 c.3784A>G p.S1262G Missense 25/33 -
16-2334866-G-A ABCA3 c.3617C>T p.A1206V Missense 24/33 -
16-2334904-G-C ABCA3 c.3579C>G p.I1193M Missense 24/33 -
16-2336909-G-A ABCA3 c.3064C>T p.R1022W Missense 22/33 -
16-2338141-C-T ABCA3 c.2890G>A p.G964S Missense 21/33 -
16-2338299-A-G ABCA3 c.2732T>C p.M911T Missense 21/33 -
16-2345661-G-C ABCA3 c.2344C>G p.P782A Missense 18/33 -
16-2347416-G-A ABCA3 c.2177C>T p.A726V Missense 17/33 -
16-2347468-G-A ABCA3 c.2125C>T p.R709W Missense 17/33 -
16-2347515-G-A ABCA3 c.2078C>T p.S693L Missense 17/33 -
16-2369821-G-T ABCA3 c.634C>A p.L212M Missense 8/33 -
1-94476842-C-A ABCA4 c.5560G>T p.V1854L Missense 39/50 -
1-94485278-C-T ABCA4 c.5056G>A p.V1686M Missense 36/50 -
1-94502328-G-A ABCA4 c.3830C>T p.T1277M Missense 26/50 -
1-94528143-C-T ABCA4 c.1927G>A p.V643M Missense 13/50 -
1-94528729-C-T ABCA4 c.1699G>A p.V567M Missense 12/50 -
1-94564483-C-T ABCA4 c.635G>A p.R212H Missense 6/50 -
17-67246743-G-A ABCA5 c.4555C>T p.H1519Y Missense 36/39 -
17-67247900-G-C ABCA5 c.4523C>G p.S1508C Missense 35/39 -
17-67266782-A-G ABCA5 c.3002T>C p.I1001T Missense 22/39 -
17-67267320-C-T ABCA5 c.2875G>A p.V959M Missense 21/39 -
17-67270252-A-G ABCA5 c.2612T>C p.I871T Missense 20/39 -
17-67280210-A-C ABCA5 c.2276T>G p.L759W Missense 18/39 -
17-67287450-A-G ABCA5 c.1513T>C p.Y505H Missense 12/39 -
17-67287465-A-C ABCA5 c.1498T>G p.L500V Missense 12/39 -
17-67300910-A-T ABCA5 c.830T>A p.M277K Missense 7/39 -
17-67303085-T-C ABCA5 c.569A>G p.N190S Missense 6/39 -
17-67075140-G-A ABCA6 c.4828C>T p.L1610F Missense 39/39 -
17-67077237-G-T ABCA6 c.4666C>A p.L1556I Missense 37/39 -
17-67080435-G-A ABCA6 c.4322C>T p.T1441M Missense 34/39 -
17-67083496-C-T ABCA6 c.3817G>A p.E1273K Missense 29/39 -
17-67099034-C-A ABCA6 c.2816G>T p.R939I Missense 21/39 -
17-67110991-T-C ABCA6 c.1694A>G p.N565S Missense 13/39 -
17-67111550-T-A ABCA6 c.1573A>T p.N525Y Missense 12/39 -
17-67111603-C-G ABCA6 c.1520G>C p.G507A Missense 12/39 -
17-67125797-C-A ABCA6 c.887G>T p.G296V Missense 7/39 -
17-67129888-G-A ABCA6 c.685C>T p.L229F Missense 6/39 -
19-1041385-C-A ABCA7 c.25C>A p.L9M Missense 2/47 -
19-1041905-A-C ABCA7 c.236A>C p.N79T Missense 4/47 -
19-1041935-A-C ABCA7 c.266A>C p.E89A Missense 4/47 -
19-1045026-C-T ABCA7 c.1241C>T p.A414V Missense 12/47 -
19-1045215-A-G ABCA7 c.1430A>G p.N477S Missense 12/47 -
19-1046239-C-G ABCA7 c.1456C>G p.P486A Missense 13/47 -
19-1046291-T-C ABCA7 c.1508T>C p.F503S Missense 13/47 -
19-1046842-C-T ABCA7 c.1664C>T p.T555M Missense 14/47 -
19-1046986-T-C ABCA7 c.1808T>C p.F603S Missense 14/47 -
19-1047169-T-C ABCA7 c.1859T>C p.L620P Missense 15/47 -
19-1047262-C-G ABCA7 c.1952C>G p.S651C Missense 15/47 -
19-1047560-G-T ABCA7 c.2176G>T p.D726Y Missense 16/47 -
19-1049292-T-G ABCA7 c.2408T>G p.L803R Missense 18/47 -
19-1049318-C-A ABCA7 c.2434C>A p.L812M Missense 18/47 -
19-1051005-C-T ABCA7 c.2638C>T p.R880W Missense 19/47 -
19-1051006-G-A ABCA7 c.2639G>A p.R880Q Missense 19/47 -
19-1051516-G-A ABCA7 c.2893G>A p.E965K Missense 21/47 -
19-1051944-G-A ABCA7 c.2966G>A p.R989H Missense 22/47 -
19-1052021-C-T ABCA7 c.3043C>T p.R1015C Missense 22/47 -
19-1053504-G-A ABCA7 c.3397G>A p.G1133R Missense 24/47 -
19-1053504-G-C ABCA7 c.3397G>C p.G1133R Missense 24/47 -
19-1053513-G-A ABCA7 c.3406G>A p.D1136N Missense 24/47 -
19-1054324-G-A ABCA7 c.3710G>A p.R1237H Missense 27/47 -
19-1055185-G-A ABCA7 c.4040G>A p.C1347Y Missense 30/47 -
19-1055248-C-T ABCA7 c.4103C>T p.P1368L Missense 30/47 -
19-1056183-C-T ABCA7 c.4357C>T p.R1453C Missense 32/47 -
19-1057343-G-A ABCA7 c.4795G>A p.V1599M Missense 35/47 -
19-1057960-G-A ABCA7 c.4927G>A p.V1643M Missense 36/47 -
19-1063637-C-T ABCA7 c.5807C>T p.T1936M Missense 43/47 -
19-1063859-A-G ABCA7 c.5948A>G p.H1983R Missense 44/47 -
17-66981048-G-T ABCA9 c.4357C>A p.P1453T Missense 34/39 -
17-66986056-C-T ABCA9 c.3853G>A p.A1285T Missense 30/39 -
17-66988398-G-A ABCA9 c.3634C>T p.H1212Y Missense 28/39 -
17-67004283-T-A ABCA9 c.3241A>T p.I1081F Missense 24/39 -
17-67014562-T-C ABCA9 c.2759A>G p.N920S Missense 20/39 -
17-67023242-T-C ABCA9 c.1925A>G p.D642G Missense 15/39 -
17-67023493-A-T ABCA9 c.1889T>A p.I630N Missense 14/39 -
17-67023942-A-T ABCA9 c.1630T>A p.Y544N Missense 13/39 -
1-229666015-C-G ABCB10 c.1576G>C p.V526L Missense 8/13 -
2-169783728-C-T ABCB11 c.3556G>A p.E1186K Missense 26/28 -
2-169814589-C-G ABCB11 c.2228G>C p.R743T Missense 19/28 -
2-169826015-G-A ABCB11 c.1856C>T p.T619M Missense 16/28 -
2-169826590-C-G ABCB11 c.1774G>C p.E592Q Missense 15/28 -
2-169833124-T-G ABCB11 c.1271A>C p.N424T Missense 12/28 -
2-169842655-C-G ABCB11 c.1048G>C p.D350H Missense 10/28 -
2-169842772-C-T ABCB11 c.931G>A p.A311T Missense 10/28 -
2-169847368-A-G ABCB11 c.851T>C p.V284A Missense 9/28 -
2-169869935-A-T ABCB11 c.236T>A p.V79E Missense 5/28 -
7-87069594-C-T ABCB4 c.1481G>A p.R494H Missense 13/28 -
7-87082366-G-C ABCB4 c.430C>G p.R144G Missense 6/28 -
7-20685748-G-A ABCB5 c.968G>A p.G323E Missense 9/28 -
7-20687600-A-G ABCB5 c.1105A>G p.I369V Missense 11/28 -
7-20687604-A-G ABCB5 c.1109A>G p.D370G Missense 11/28 -
7-20687678-T-G ABCB5 c.1183T>G p.Y395D Missense 11/28 -
7-20698201-C-T ABCB5 c.1609C>T p.R537C Missense 14/28 -
7-20721141-G-A ABCB5 c.1721G>A p.R574Q Missense 15/28 -
7-20721260-G-C ABCB5 c.1840G>C p.G614R Missense 15/28 -
7-20739693-G-A ABCB5 c.2272G>A p.G758S Missense 19/28 -
7-20744360-T-G ABCB5 c.2351T>G p.F784C Missense 20/28 -
7-20762799-G-C ABCB5 c.2582G>C p.G861A Missense 21/28 -
7-20766694-C-G ABCB5 c.2657C>G p.T886S Missense 22/28 -
7-20782621-T-C ABCB5 c.3146T>C p.V1049A Missense 25/28 -
7-20784936-C-A ABCB5 c.3304C>A p.L1102I Missense 26/28 -
7-20785002-G-A ABCB5 c.3370G>A p.E1124K Missense 26/28 -
7-20793113-A-G ABCB5 c.3560A>G p.D1187G Missense 27/28 -
7-150730966-C-G ABCB8 c.370C>G p.L124V Missense 2/16 -
7-150731381-G-A ABCB8 c.430G>A p.V144M Missense 3/16 -
7-150731408-G-A ABCB8 c.457G>A p.G153S Missense 3/16 -
7-150731875-G-A ABCB8 c.724G>A p.V242M Missense 5/16 -
7-150732675-G-A ABCB8 c.773G>A p.R258Q Missense 6/16 -
7-150732812-C-T ABCB8 c.910C>T p.R304C Missense 6/16 -
7-150737646-T-A ABCB8 c.1313T>A p.I438N Missense 11/16 -
7-150738260-G-C ABCB8 c.1558G>C p.D520H Missense 13/16 -
7-150739109-C-G ABCB8 c.1679C>G p.S560C Missense 14/16 -
7-150741183-C-T ABCB8 c.1891C>T p.R631W Missense 15/16 -
12-123414625-C-A ABCB9 c.2134G>T p.V712L Missense 12/12 -
12-123444361-C-T ABCB9 c.422G>A p.R141Q Missense 2/12 -
12-123430687-C-T ABCB9 c.1136G>A p.R379Q Missense 6/12 -
12-123433299-G-A ABCB9 c.925C>T p.R309W Missense 5/12 -
12-123444551-G-A ABCB9 c.232C>T p.R78W Missense 2/12 -
16-16126987-G-T ABCC1 c.637G>T p.A213S Missense 6/31 -
16-16130450-A-C ABCC1 c.799A>C p.K267Q Missense 7/31 -
16-16138528-A-C ABCC1 c.1031A>C p.Q344P Missense 8/31 -
16-16200716-G-C ABCC1 c.2857G>C p.A953P Missense 21/31 -
16-16170206-G-A ABCC1 c.1936G>A p.V646M Missense 15/31 -
16-16205244-G-A ABCC1 c.2884G>A p.V962M Missense 22/31 -
16-16208739-C-T ABCC1 c.3196C>T p.R1066W Missense 23/31 -
16-16208851-G-A ABCC1 c.3308G>A p.G1103D Missense 23/31 -
16-16208889-G-A ABCC1 c.3346G>A p.A1116T Missense 23/31 -
16-16180786-G-A ABCC1 c.2398G>A p.A800T Missense 18/31 -
16-16208928-G-A ABCC1 c.3385G>A p.V1129I Missense 23/31 -
16-16215877-G-A ABCC1 c.3436G>A p.V1146I Missense 24/31 -
16-16225713-G-A ABCC1 c.3887G>A p.R1296Q Missense 27/31 -
6-43413658-C-T ABCC10 c.3352C>T p.R1118W Missense 15/22 -
16-16225727-C-T ABCC1 c.3901C>T p.R1301C Missense 27/31 -
16-16230476-T-A ABCC1 c.4267T>A p.C1423S Missense 29/31 -
16-16232319-C-T ABCC1 c.4391C>T p.T1464M Missense 30/31 -
16-16235037-G-A ABCC1 c.4495G>A p.V1499I Missense 31/31 -
6-43400839-G-A ABCC10 c.1121G>A p.R374H Missense 3/22 -
6-43400850-G-A ABCC10 c.1132G>A p.G378R Missense 3/22 -
6-43400974-T-C ABCC10 c.1256T>C p.V419A Missense 3/22 -
6-43401027-A-G ABCC10 c.1309A>G p.N437D Missense 3/22 -
6-43403496-C-T ABCC10 c.1616C>T p.T539M Missense 5/22 -
6-43403926-T-C ABCC10 c.1816T>C p.S606P Missense 6/22 -
6-43413652-G-A ABCC10 c.3346G>A p.V1116M Missense 15/22 -
6-43413574-C-T ABCC10 c.3268C>T p.R1090W Missense 15/22 -
6-43415482-C-T ABCC10 c.3766C>T p.R1256W Missense 18/22 -
6-43415483-G-A ABCC10 c.3767G>A p.R1256Q Missense 18/22 -
6-43415558-G-A ABCC10 c.3842G>A p.R1281H Missense 18/22 -
10-101556895-A-G ABCC2 c.674A>G p.D225G Missense 7/32 -
10-101559094-A-G ABCC2 c.998A>G p.D333G Missense 8/32 -
10-101578655-C-T ABCC2 c.2380C>T p.H794Y Missense 18/32 -
10-101578683-T-C ABCC2 c.2408T>C p.V803A Missense 18/32 -
10-101591492-G-T ABCC2 c.3008G>T p.W1003L Missense 22/32 -
10-101591737-T-C ABCC2 c.3107T>C p.I1036T Missense 23/32 -
13-95829970-A-G ABCC4 c.1718T>C p.L573S Missense 13/31 -
10-101591866-G-A ABCC2 c.3236G>A p.R1079Q Missense 23/32 -
10-101594176-C-T ABCC2 c.3298C>T p.R1100C Missense 24/32 -
10-101595975-G-A ABCC2 c.3542G>A p.R1181Q Missense 25/32 -
10-101603610-A-G ABCC2 c.3796A>G p.I1266V Missense 27/32 -
10-101604107-C-T ABCC2 c.3872C>T p.P1291L Missense 28/32 -
10-101610393-G-T ABCC2 c.4348G>T p.A1450S Missense 31/32 -
10-101611327-G-C ABCC2 c.4577G>C p.G1526A Missense 32/32 -
17-48734166-C-T ABCC3 c.326C>T p.P109L Missense 3/31 -
17-48734516-G-A ABCC3 c.458G>A p.R153H Missense 4/31 -
17-48738348-C-T ABCC3 c.871C>T p.R291W Missense 8/31 -
17-48738367-C-G ABCC3 c.890C>G p.P297R Missense 8/31 -
17-48738399-G-A ABCC3 c.922G>A p.G308S Missense 8/31 -
17-48741417-A-G ABCC3 c.1283A>G p.N428S Missense 10/31 -
17-48742536-CT-AG ABCC3 c.1361_1362delCTinsAG p.A454E Missense 11/31 -
17-48741440-C-A ABCC3 c.1306C>A p.Q436K Missense 10/31 -
17-48745231-T-A ABCC3 c.1643T>A p.L548Q Missense 13/31 -
17-48746541-G-A ABCC3 c.1978G>A p.V660M Missense 16/31 -
17-48746550-G-A ABCC3 c.1987G>A p.V663M Missense 16/31 -
17-48750447-C-T ABCC3 c.2357C>T p.A786V Missense 18/31 -
17-48750846-C-T ABCC3 c.2426C>T p.T809M Missense 19/31 -
17-48752837-G-A ABCC3 c.2714G>A p.R905K Missense 20/31 -
17-48755518-G-A ABCC3 c.3643G>A p.V1215I Missense 25/31 -
17-48755543-C-T ABCC3 c.3668C>T p.P1223L Missense 25/31 -
17-48760979-G-T ABCC3 c.3816G>T p.W1272C Missense 27/31 -
17-48760979-G-C ABCC3 c.3816G>C p.W1272C Missense 27/31 -
17-48761058-C-T ABCC3 c.3895C>T p.R1299W Missense 27/31 -
17-48762190-C-A ABCC3 c.4234C>A p.P1412T Missense 29/31 -
17-48762223-G-A ABCC3 c.4267G>A p.G1423R Missense 29/31 -
13-95673837-C-T ABCC4 c.3970G>A p.A1324T Missense 31/31 -
13-95705380-G-A ABCC4 c.3425C>T p.T1142M Missense 27/31 -
13-95726548-C-T ABCC4 c.2837G>A p.R946H Missense 23/31 -
13-95727749-G-A ABCC4 c.2743C>T p.R915W Missense 22/31 -
13-95768231-T-C ABCC4 c.2480A>G p.K827R Missense 20/31 -
13-95813508-A-G ABCC4 c.2390T>C p.L797S Missense 19/31 -
13-95830299-C-T ABCC4 c.1592G>A p.R531Q Missense 12/31 -
13-95899302-G-A ABCC4 c.233C>T p.P78L Missense 3/31 -
13-95899927-C-T ABCC4 c.155G>A p.R52H Missense 2/31 -
3-183660632-C-T ABCC5 c.3577G>A p.V1193M Missense 25/30 -
3-183665155-A-T ABCC5 c.3371T>A p.I1124N Missense 23/30 -
3-183665245-G-A ABCC5 c.3281C>T p.A1094V Missense 23/30 -
3-183667646-C-T ABCC5 c.3122G>A p.R1041H Missense 22/30 -
3-183669307-G-C ABCC5 c.2866C>G p.L956V Missense 20/30 -
3-183706481-A-G ABCC5 c.322T>C p.S108P Missense 4/30 -
16-16248588-C-T ABCC6 c.4105G>A p.E1369K Missense 29/31 -
16-16248791-C-T ABCC6 c.3980G>A p.G1327E Missense 28/31 -
16-16259596-G-A ABCC6 c.3190C>T p.R1064W Missense 23/31 -
16-16263577-T-C ABCC6 c.2921A>G p.D974G Missense 22/31 -
11-17426081-T-C ABCC8 c.3535A>G p.K1179E Missense 28/39 -
11-17434967-C-T ABCC8 c.2449G>A p.G817R Missense 20/39 -
11-17450177-G-A ABCC8 c.1858C>T p.R620C Missense 13/39 -
11-17464763-C-T ABCC8 c.1429G>A p.V477M Missense 9/39 -
11-17474719-C-T ABCC8 c.1123G>A p.A375T Missense 7/39 -
11-17474779-C-T ABCC8 c.1063G>A p.A355T Missense 7/39 -
11-17482130-G-A ABCC8 c.916C>T p.R306C Missense 6/39 -
12-21970198-A-C ABCC9 c.3815T>G p.L1272R Missense 33/40 -
X-152991428-G-A ABCD1 c.707G>A p.R236H Missense 1/10 -
X-152990986-C-T ABCD1 c.265C>T p.R89W Missense 1/10 -
X-152991541-C-T ABCD1 c.820C>T p.R274W Missense 1/10 -
X-152991616-C-T ABCD1 c.895C>T p.H299Y Missense 1/10 -
12-39973395-C-T ABCD2 c.1819G>A p.D607N Missense 8/10 -
12-39979971-A-T ABCD2 c.1775T>A p.I592K Missense 7/10 -
12-40013126-T-C ABCD2 c.292A>G p.K98E Missense 1/10 -
12-40013159-G-C ABCD2 c.259C>G p.Q87E Missense 1/10 -
1-94884042-C-T ABCD3 c.8C>T p.A3V Missense 1/23 -
1-94884068-A-T ABCD3 c.34A>T p.N12Y Missense 1/23 -
1-94924174-G-A ABCD3 c.122G>A p.G41E Missense 2/23 -
1-94940763-G-A ABCD3 c.470G>A p.R157K Missense 6/23 -
14-74753420-C-T ABCD4 c.1736G>A p.R579Q Missense 18/19 -
3-183910911-G-A ABCF3 c.1772G>A p.R591H Missense 19/21 -
14-74756738-G-A ABCD4 c.1411C>T p.R471W Missense 13/19 -
14-74759896-T-A ABCD4 c.775A>T p.T259S Missense 8/19 -
14-74759919-C-T ABCD4 c.752G>A p.R251H Missense 8/19 -
14-74759920-G-A ABCD4 c.751C>T p.R251C Missense 8/19 -
14-74766869-C-G ABCD4 c.141G>C p.L47F Missense 2/19 -
6-30551406-G-A ABCF1 c.937G>A p.A313T Missense 11/25 -
7-150912020-T-C ABCF2 c.1679A>G p.N560S Missense 14/15 -
3-183904039-T-A ABCF3 c.44T>A p.I15N Missense 1/21 -
3-183905973-G-A ABCF3 c.614G>A p.R205H Missense 7/21 -
3-183910615-A-T ABCF3 c.1681A>T p.S561C Missense 18/21 -
3-183910892-CGG-TGT ABCF3 c.1753_1755delCGGinsTGT p.R585C Missense 19/21 -
3-183910910-C-T ABCF3 c.1771C>T p.R591C Missense 19/21 -
3-183910893-GG-AT ABCF3 c.1754_1755delGGinsAT p.R585H Missense 19/21 -
3-183911416-G-A ABCF3 c.2060G>A p.R687H Missense 21/21 -
3-183911443-G-A ABCF3 c.2087G>A p.R696H Missense 21/21 -
21-43691209-G-A ABCG1 c.316G>A p.G106R Missense 3/15 -
21-43691200-G-A ABCG1 c.307G>A p.G103R Missense 3/15 -
21-43691200-G-C ABCG1 c.307G>C p.G103R Missense 3/15 -
4-89039374-T-C ABCG2 c.728A>G p.H243R Missense 7/16 -
11-119025526-C-T ABCG4 c.587C>T p.T196M Missense 6/15 -
11-119029283-G-A ABCG4 c.1184G>A p.R395Q Missense 11/15 -
2-44040259-C-G ABCG5 c.1952G>C p.R651T Missense 13/13 -
2-44040259-C-T ABCG5 c.1952G>A p.R651K Missense 13/13 -
18-19263904-C-T ABHD3 c.532G>A p.G178R Missense 4/9 -
2-44053537-C-T ABCG5 c.758G>A p.R253H Missense 6/13 -
2-44065003-C-T ABCG5 c.235G>A p.G79R Missense 2/13 -
2-44071736-C-G ABCG8 c.154C>G p.L52V Missense 2/13 -
2-44078891-G-A ABCG8 c.491G>A p.R164Q Missense 4/13 -
2-44079565-G-T ABCG8 c.634G>T p.G212W Missense 5/13 -
2-44079774-A-T ABCG8 c.731A>T p.D244V Missense 6/13 -
2-44100939-A-G ABCG8 c.1225A>G p.N409D Missense 9/13 -
2-44102404-G-T ABCG8 c.1608G>T p.W536C Missense 11/13 -
2-44102404-G-C ABCG8 c.1608G>C p.W536C Missense 11/13 -
2-44105044-G-A ABCG8 c.2014G>A p.D672N Missense 13/13 -
2-27351941-G-A ABHD1 c.404G>A p.S135N Missense 3/9 -
2-27353266-C-T ABHD1 c.988C>T p.P330S Missense 8/9 -
18-19263904-C-G ABHD3 c.532G>C p.G178R Missense 4/9 -
2-27353509-A-G ABHD1 c.1115A>G p.Y372C Missense 9/9 -
7-73151687-A-G ABHD11 c.497T>C p.I157T Missense 4/6 -
7-73151001-A-G ABHD11 c.836T>C p.I270T Missense 6/6 -
20-25289111-G-A ABHD12 c.769C>T p.R257W Missense 8/13 -
14-51352357-T-A ABHD12B c.512T>A p.V171D Missense 6/13 -
14-51344756-T-A ABHD12B c.191T>A p.V64D Missense 2/13 -
13-108882140-C-T ABHD13 c.574C>T p.R192C Missense 2/2 -
3-52021617-G-A ACY1 c.898G>A p.G300R Missense 12/15 -
3-52022597-T-G ACY1 c.979T>G p.F327V Missense 13/15 -
3-52023020-C-T ACY1 c.1156C>T p.R386C Missense 15/15 -
17-27889938-C-T ABHD15 c.1048G>A p.V350M Missense 2/2 -
17-27893251-G-A ABHD15 c.734C>T p.S245F Missense 1/2 -
17-27893405-G-A ABHD15 c.580C>T p.R194C Missense 1/2 -
3-43743914-G-T ABHD5 c.341G>T p.R114L Missense 3/7 -
3-43753233-G-A ABHD5 c.539G>A p.G180D Missense 4/7 -
3-43753245-G-A ABHD5 c.551G>A p.R184Q Missense 4/7 -
3-43732530-AG-CA ABHD5 c.46_47delAGinsCA p.R16Q Missense 1/7 -
17-47288106-T-C ABI3 c.20T>C p.L7P Missense 1/8 -
17-47293905-C-T ABI3 c.130C>T p.R44W Missense 2/8 -
17-47293920-G-A ABI3 c.145G>A p.E49K Missense 2/8 -
9-133738171-C-T ABL1 c.571C>T p.R191C Missense 4/11 -
1-179095607-G-C ABL2 c.592C>G p.R198G Missense 4/12 -
10-116211410-G-C ABLIM1 c.1567C>G p.R523G Missense 14/23 -
10-116225511-G-C ABLIM1 c.1387C>G p.R463G Missense 12/23 -
10-116227969-T-C ABLIM1 c.1282A>G p.R428G Missense 11/23 -
4-8062751-C-T ABLIM2 c.706G>A p.A236T Missense 7/21 -
4-8098877-G-A ABLIM2 c.287C>T p.S96L Missense 3/21 -
4-8098896-T-A ABLIM2 c.268A>T p.I90F Missense 3/21 -
4-8098926-C-T ABLIM2 c.238G>A p.G80S Missense 3/21 -
4-8098983-C-T ABLIM2 c.181G>A p.G61S Missense 3/21 -
5-148563144-C-T ABLIM3 c.143C>T p.T48I Missense 3/24 -
5-148590308-G-C ABLIM3 c.595G>C p.E199Q Missense 7/24 -
5-148610251-G-A ABLIM3 c.797G>A p.R266Q Missense 9/24 -
5-148612795-AG-CA ABLIM3 c.820_821delAGinsCA p.R274Q Missense 10/24 -
8-107773280-A-C ABRA c.1131T>G p.I377M Missense 2/2 -
8-107773309-A-G ABRA c.1102T>C p.W368R Missense 2/2 -
4-84391410-G-A ABRAXAS1 c.422C>T p.T141I Missense 5/9 -
3-127398954-C-T ABTB1 c.1156C>T p.R386C Missense 11/12 -
11-34378710-G-A ABTB2 c.421C>T p.R141C Missense 1/17 -
11-34378736-A-G ABTB2 c.395T>C p.L132P Missense 1/17 -
3-38164585-C-T ACAA1 c.1228G>A p.G410R Missense 12/12 -
3-38167089-G-A ACAA1 c.1166C>T p.T389M Missense 11/12 -
3-38173446-G-A ACAA1 c.374C>T p.S125L Missense 4/12 -
3-38173456-G-C ACAA1 c.364C>G p.Q122E Missense 4/12 -
3-38175477-C-T ACAA1 c.289G>A p.G97R Missense 3/12 -
3-38178415-C-G ACAA1 c.112G>C p.V38L Missense 1/12 -
3-38178415-C-A ACAA1 c.112G>T p.V38L Missense 1/12 -
18-47311616-G-T ACAA2 c.1060C>A p.L354M Missense 9/10 -
18-47318683-A-T ACAA2 c.592T>A p.Y198N Missense 6/10 -
18-47329071-C-G ACAA2 c.169G>C p.G57R Missense 2/10 -
18-47329199-C-T ACAA2 c.41G>A p.R14Q Missense 2/10 -
17-35583267-G-C ACACA c.3353C>G p.A1118G Missense 26/56 -
17-35583274-G-A ACACA c.3346C>T p.L1116F Missense 26/56 -
12-109604776-G-T ACACB c.764G>T p.G255V Missense 3/53 -
12-109604784-C-T ACACB c.772C>T p.R258W Missense 3/53 -
12-109605822-A-G ACACB c.908A>G p.D303G Missense 4/53 -
12-109610081-C-T ACACB c.1037C>T p.A346V Missense 6/53 -
12-109577641-C-T ACACB c.431C>T p.A144V Missense 2/53 -
12-109617756-T-G ACACB c.1682T>G p.V561G Missense 11/53 -
12-109617783-A-G ACACB c.1709A>G p.Y570C Missense 11/53 -
12-109623408-C-T ACACB c.1843C>T p.R615W Missense 12/53 -
12-109623436-G-A ACACB c.1871G>A p.G624E Missense 12/53 -
12-109625916-C-T ACACB c.2093C>T p.S698F Missense 13/53 -
12-109631455-G-T ACACB c.2402G>T p.G801V Missense 16/53 -
12-109639483-G-A ACACB c.2890G>A p.D964N Missense 19/53 -
12-109650663-A-G ACACB c.3272A>G p.H1091R Missense 22/53 -
12-109673146-G-A ACACB c.4376G>A p.R1459Q Missense 32/53 -
12-109577781-G-A ACACB c.571G>A p.G191S Missense 2/53 -
12-109675096-G-A ACACB c.4573G>A p.G1525S Missense 34/53 -
12-109677678-T-C ACACB c.4706T>C p.L1569P Missense 35/53 -
12-109677729-G-A ACACB c.4757G>A p.R1586H Missense 35/53 -
12-109680336-G-A ACACB c.5117G>A p.R1706Q Missense 37/53 -
12-109683531-A-G ACACB c.5279A>G p.N1760S Missense 38/53 -
12-109684030-C-T ACACB c.5348C>T p.P1783L Missense 39/53 -
12-109684039-G-A ACACB c.5357G>A p.R1786Q Missense 39/53 -
12-109684135-G-A ACACB c.5453G>A p.R1818Q Missense 39/53 -
12-109684180-C-A ACACB c.5498C>A p.A1833D Missense 39/53 -
12-109684221-G-A ACACB c.5539G>A p.V1847M Missense 39/53 -
12-109690956-T-C ACACB c.6038T>C p.M2013T Missense 43/53 -
12-109692110-G-A ACACB c.6137G>A p.R2046Q Missense 44/53 -
12-109696113-C-T ACACB c.6304C>T p.R2102W Missense 46/53 -
12-109698323-G-A ACACB c.6535G>A p.V2179M Missense 48/53 -
12-109698363-A-G ACACB c.6575A>G p.Y2192C Missense 48/53 -
12-109698419-A-G ACACB c.6631A>G p.I2211V Missense 48/53 -
12-109702093-C-T ACACB c.6844C>T p.R2282C Missense 50/53 -
12-109702141-G-A ACACB c.6892G>A p.A2298T Missense 50/53 -
12-112150347-G-A ACAD10 c.736G>A p.G246S Missense 6/21 -
12-112167753-G-A ACAD10 c.1387G>A p.D463N Missense 10/21 -
12-112182776-G-C ACAD10 c.2044G>C p.E682Q Missense 13/21 -
12-112184027-T-C ACAD10 c.2195T>C p.L732P Missense 14/21 -
12-112143579-T-C ACAD10 c.374T>C p.L125P Missense 4/21 -
12-112184086-G-A ACAD10 c.2254G>A p.E752K Missense 14/21 -
12-112184865-T-C ACAD10 c.2269T>C p.S757P Missense 15/21 -
12-112185166-A-T ACAD10 c.2462A>T p.N821I Missense 16/21 -
12-112187138-A-G ACAD10 c.2806A>G p.M936V Missense 18/21 -
12-112187140-G-A ACAD10 c.2808G>A p.M936I Missense 18/21 -
12-112187148-G-T ACAD10 c.2816G>T p.R939L Missense 18/21 -
12-112191669-C-T ACAD10 c.2911C>T p.R971W Missense 19/21 -
12-112191718-A-C ACAD10 c.2960A>C p.K987T Missense 19/21 -
12-112194215-G-A ACAD10 c.3118G>A p.D1040N Missense 21/21 -
3-132277856-C-G ACAD11 c.2302G>C p.E768Q Missense 20/20 -
3-132277907-G-A ACAD11 c.2251C>T p.R751C Missense 20/20 -
3-132278717-C-T ACAD11 c.2188G>A p.G730R Missense 19/20 -
3-132279976-T-A ACAD11 c.2087A>T p.D696V Missense 18/20 -
3-132294680-G-T ACAD11 c.1937C>A p.A646D Missense 17/20 -
3-132322120-C-T ACAD11 c.1574G>A p.R525Q Missense 13/20 -
3-132337609-G-C ACAD11 c.1283C>G p.A428G Missense 11/20 -
11-134131065-T-C ACAD8 c.833T>C p.I278T Missense 7/11 -
3-128614248-A-G ACAD9 c.442A>G p.I148V Missense 4/18 -
3-128616489-C-T ACAD9 c.569C>T p.A190V Missense 6/18 -
3-128621432-A-G ACAD9 c.919A>G p.M307V Missense 9/18 -
3-128623331-G-A ACAD9 c.1132G>A p.E378K Missense 11/18 -
3-128625072-C-T ACAD9 c.1258C>T p.R420C Missense 12/18 -
3-128627902-G-A ACAD9 c.1445G>A p.G482E Missense 14/18 -
3-128629605-T-A ACAD9 c.1714T>A p.C572S Missense 17/18 -
3-128629606-G-C ACAD9 c.1715G>C p.C572S Missense 17/18 -
2-211068107-C-A ACADL c.932G>T p.R311M Missense 8/11 -
2-211070402-C-G ACADL c.722G>C p.G241A Missense 6/11 -
1-76205722-G-T ACADM c.526G>T p.A176S Missense 7/12 -
12-121174919-T-C ACADS c.341T>C p.V114A Missense 3/10 -
12-121174928-G-A ACADS c.350G>A p.S117N Missense 3/10 -
12-121176678-G-A ACADS c.989G>A p.R330H Missense 8/10 -
12-121176980-C-T ACADS c.1067C>T p.A356V Missense 9/10 -
12-121176968-C-T ACADS c.1055C>T p.A352V Missense 9/10 -
10-124800869-G-A ACADSB c.655G>A p.V219M Missense 5/11 -
10-124812607-G-A ACADSB c.1159G>A p.E387K Missense 10/11 -
10-124812628-T-C ACADSB c.1180T>C p.Y394H Missense 10/11 -
17-7124144-T-C ACADVL c.337T>C p.F113L Missense 5/20 -
17-7124146-C-A ACADVL c.339C>A p.F113L Missense 5/20 -
17-7124146-C-G ACADVL c.339C>G p.F113L Missense 5/20 -
17-7125561-G-C ACADVL c.818G>C p.G273A Missense 9/20 -
17-7125598-G-C ACADVL c.855G>C p.E285D Missense 9/20 -
17-7125275-G-C ACADVL c.627G>C p.E209D Missense 8/20 -
17-7125275-G-T ACADVL c.627G>T p.E209D Missense 8/20 -
17-7127674-G-A ACADVL c.1567G>A p.G523R Missense 16/20 -
17-7127293-G-A ACADVL c.1339G>A p.G447R Missense 14/20 -
17-7127293-G-C ACADVL c.1339G>C p.G447R Missense 14/20 -
17-7128130-C-T ACADVL c.1754C>T p.A585V Missense 19/20 -
17-7128342-C-T ACADVL c.1894C>T p.R632C Missense 20/20 -
17-7251269-C-T ACAP1 c.1372C>T p.R458W Missense 15/22 -
3-195013109-G-A ACAP2 c.1838C>T p.A613V Missense 19/23 -
1-1229048-C-G ACAP3 c.2401G>C p.E801Q Missense 24/24 -
1-1231469-G-C ACAP3 c.1428C>G p.N476K Missense 17/24 -
1-1231469-G-T ACAP3 c.1428C>A p.N476K Missense 17/24 -
11-108012366-A-T ACAT1 c.765A>T p.E255D Missense 8/12 -
11-108012367-T-A ACAT1 c.766T>A p.Y256N Missense 8/12 -
11-108018050-A-G ACAT1 c.1217A>G p.E406G Missense 12/12 -
6-160199709-G-T ACAT2 c.1042G>T p.A348S Missense 9/9 -
10-27499809-C-T ACBD5 c.1138G>A p.G380R Missense 9/13 -
10-27499782-C-T ACBD5 c.1165G>A p.G389R Missense 9/13 -
10-27499782-C-G ACBD5 c.1165G>C p.G389R Missense 9/13 -
11-44095050-C-G ACCS c.402C>G p.D134E Missense 4/15 -
11-44099413-C-T ACCS c.673C>T p.R225C Missense 8/15 -
11-44099439-G-T ACCS c.699G>T p.K233N Missense 8/15 -
11-44073203-G-A ACCSL c.706G>A p.V236M Missense 5/14 -
11-44079906-G-T ACCSL c.1367G>T p.R456L Missense 12/14 -
17-61556453-T-C ACE c.503T>C p.L168P Missense 3/25 -
17-61557214-C-T ACE c.596C>T p.P199L Missense 4/25 -
17-61557724-C-T ACE c.682C>T p.R228C Missense 5/25 -
17-61557841-G-A ACE c.799G>A p.G267R Missense 5/25 -
17-61559850-C-T ACE c.1142C>T p.T381M Missense 8/25 -
17-61559951-G-A ACE c.1243G>A p.G415S Missense 8/25 -
17-61559967-T-C ACE c.1259T>C p.I420T Missense 8/25 -
17-61560846-C-G ACE c.1513C>G p.P505A Missense 10/25 -
17-61561806-T-A ACE c.1825T>A p.W609R Missense 12/25 -
17-61561806-T-C ACE c.1825T>C p.W609R Missense 12/25 -
17-61568577-C-T ACE c.2747C>T p.T916M Missense 19/25 -
17-61571755-C-A ACE c.3304C>A p.P1102T Missense 22/25 -
17-61574215-C-T ACE c.3560C>T p.T1187M Missense 24/25 -
19-6307218-C-T ACER1 c.572G>A p.R191H Missense 5/6 -
19-6312212-A-G ACER1 c.298T>C p.Y100H Missense 3/6 -
19-6312465-G-C ACER1 c.139C>G p.L47V Missense 2/6 -
19-6333510-T-G ACER1 c.53A>C p.N18T Missense 1/6 -
3-42906773-T-A ACKR2 c.779T>A p.F260Y Missense 3/3 -
17-40028410-T-A ACLY c.2668A>T p.I890F Missense 24/29 -
2-111691149-G-A ACOXL c.989G>A p.G330E Missense 12/18 -
17-40030070-T-C ACLY c.2636A>G p.Q879R Missense 23/29 -
17-40039467-A-C ACLY c.2173T>G p.Y725D Missense 20/29 -
17-40042453-G-A ACLY c.1984C>T p.R662C Missense 18/29 -
17-40043952-C-T ACLY c.1775G>A p.R592Q Missense 17/29 -
17-40049368-G-A ACLY c.1519C>T p.R507W Missense 15/29 -
17-40048621-T-A ACLY c.1681A>T p.R561W Missense 16/29 -
17-40049386-C-T ACLY c.1501G>A p.V501M Missense 15/29 -
17-40062815-T-C ACLY c.832A>G p.M278V Missense 8/29 -
2-135621089-C-A ACMSD c.374C>A p.A125E Missense 5/10 -
2-135630090-G-A ACMSD c.728G>A p.R243H Missense 8/10 -
2-135655939-C-T ACMSD c.878C>T p.P293L Missense 9/10 -
9-32407268-C-G ACO1 c.107C>G p.P36R Missense 3/21 -
9-32407324-G-A ACO1 c.163G>A p.V55M Missense 3/21 -
9-32408546-C-T ACO1 c.301C>T p.R101C Missense 4/21 -
9-32418473-A-G ACO1 c.622A>G p.T208A Missense 6/21 -
9-32419065-A-G ACO1 c.688A>G p.M230V Missense 7/21 -
9-32420986-C-T ACO1 c.931C>T p.P311S Missense 8/21 -
9-32423319-C-T ACO1 c.973C>T p.R325C Missense 9/21 -
9-32430509-C-A ACO1 c.1663C>A p.P555T Missense 14/21 -
22-41919850-G-T ACO2 c.1387G>T p.G463W Missense 12/18 -
22-41922272-G-A ACO2 c.1768G>A p.G590R Missense 15/18 -
22-41922272-G-C ACO2 c.1768G>C p.G590R Missense 15/18 -
1-55050464-A-G ACOT11 c.170A>G p.H57R Missense 2/16 -
1-55064970-C-T ACOT11 c.766C>T p.R256W Missense 8/16 -
5-80626733-G-A ACOT12 c.1418C>T p.S473L Missense 14/15 -
5-80640000-C-T ACOT12 c.959G>A p.R320H Missense 9/15 -
6-24698178-A-G ACOT13 c.149A>G p.N50S Missense 2/3 -
6-24698187-G-T ACOT13 c.158G>T p.G53V Missense 2/3 -
14-74058757-G-T ACOT4 c.94G>T p.V32F Missense 1/3 -
14-74058773-C-T ACOT4 c.110C>T p.S37F Missense 1/3 -
14-74058937-C-A ACOT4 c.274C>A p.R92S Missense 1/3 -
14-74062305-T-G ACOT4 c.1213T>G p.F405V Missense 3/3 -
14-74062306-T-C ACOT4 c.1214T>C p.F405S Missense 3/3 -
20-44470511-C-T ACOT8 c.926G>A p.R309Q Missense 6/6 -
20-44477308-G-A ACOT8 c.269C>T p.P90L Missense 3/6 -
17-73944345-A-G ACOX1 c.1922T>C p.L641P Missense 13/14 -
17-73945434-C-T ACOX1 c.1592G>A p.C531Y Missense 12/14 -
17-73949589-G-A ACOX1 c.887C>T p.A296V Missense 7/14 -
17-73951993-G-T ACOX1 c.574C>A p.Q192K Missense 5/14 -
17-73953581-T-C ACOX1 c.497A>G p.N166S Missense 4/14 -
17-73953620-G-A ACOX1 c.458C>T p.T153I Missense 4/14 -
3-58516307-A-G ACOX2 c.878T>C p.M293T Missense 8/15 -
3-58517016-G-A ACOX2 c.781C>T p.R261W Missense 7/15 -
3-58517450-G-A ACOX2 c.673C>T p.R225W Missense 6/15 -
3-58520228-G-A ACOX2 c.182C>T p.P61L Missense 3/15 -
3-58520737-C-T ACOX2 c.97G>A p.V33M Missense 2/15 -
4-8391413-T-C ACOX3 c.1349A>G p.Y450C Missense 12/18 -
4-8407697-T-C ACOX3 c.761A>G p.N254S Missense 7/18 -
4-8416033-C-T ACOX3 c.529G>A p.D177N Missense 5/18 -
2-111551686-G-A ACOXL c.280G>A p.E94K Missense 5/18 -
2-111551725-G-A ACOXL c.319G>A p.E107K Missense 5/18 -
2-111556618-G-A ACOXL c.488G>A p.R163Q Missense 7/18 -
2-111556620-G-C ACOXL c.490G>C p.D164H Missense 7/18 -
2-111551710-AGA-TGG ACOXL c.304_306delAGAinsTGG p.R102W Missense 5/18 -
2-111666367-C-T ACOXL c.790C>T p.R264W Missense 11/18 -
2-111551710-AG-CA ACOXL c.304_305delAGinsCA p.R102Q Missense 5/18 -
2-111666368-G-A ACOXL c.791G>A p.R264Q Missense 11/18 -
2-111666380-G-T ACOXL c.803G>T p.G268V Missense 11/18 -
19-11687156-C-G ACP5 c.637G>C p.E213Q Missense 4/5 -
1-147131131-C-T ACP6 c.503G>A p.R168Q Missense 4/10 -
19-39591426-A-G ACP7 c.740A>G p.Y247C Missense 7/13 -
19-39591617-C-T ACP7 c.836C>T p.P279L Missense 8/13 -
19-39591653-G-A ACP7 c.872G>A p.C291Y Missense 8/13 -
19-39591793-C-T ACP7 c.919C>T p.R307C Missense 9/13 -
19-39591829-G-T ACP7 c.955G>T p.D319Y Missense 9/13 -
3-132051064-G-A ACP3 c.332G>A p.R111Q Missense 4/10 -
22-51178381-G-A ACR c.541G>A p.G181S Missense 3/5 -
12-6756035-G-A ACRBP c.187C>T p.R63C Missense 2/10 -
17-48551579-C-T ACSF2 c.1748C>T p.P583L Missense 15/16 -
16-89167714-C-G ACSF3 c.625C>G p.P209A Missense 3/11 -
20-33509200-T-C ACSS2 c.1345T>C p.W449R Missense 11/18 -
16-89167723-G-C ACSF3 c.634G>C p.V212L Missense 3/11 -
16-89212360-G-A ACSF3 c.1516G>A p.G506R Missense 10/11 -
4-185698092-C-T ACSL1 c.523G>A p.V175I Missense 6/21 -
10-114171715-A-G ACSL5 c.926A>G p.H309R Missense 11/21 -
10-114172997-G-A ACSL5 c.1015G>A p.D339N Missense 12/21 -
10-114177616-G-A ACSL5 c.1231G>A p.G411R Missense 14/21 -
10-114185175-T-C ACSL5 c.1673T>C p.I558T Missense 18/21 -
5-131302170-G-A ACSL6 c.1652C>T p.T551M Missense 17/21 -
5-131308521-G-A ACSL6 c.1234C>T p.R412C Missense 13/21 -
5-131325201-C-T ACSL6 c.451G>A p.V151M Missense 5/21 -
5-131326590-G-T ACSL6 c.341C>A p.A114D Missense 3/21 -
16-20787240-T-C ACSM3 c.299T>C p.L100P Missense 3/14 -
16-20792122-C-T ACSM3 c.725C>T p.P242L Missense 5/14 -
16-20793082-G-C ACSM3 c.992G>C p.R331P Missense 7/14 -
16-20796428-C-T ACSM3 c.1142C>T p.T381M Missense 8/14 -
16-20803581-T-G ACSM3 c.1478T>G p.V493G Missense 12/14 -
16-20429553-C-T ACSM5 c.377C>T p.P126L Missense 3/14 -
16-20432659-G-A ACSM5 c.703G>A p.G235R Missense 5/14 -
20-25004229-C-T ACSS1 c.680G>A p.R227H Missense 4/14 -
20-33470746-C-G ACSS2 c.328C>G p.R110G Missense 2/18 -
20-33464491-C-G ACSS2 c.43C>G p.R15G Missense 1/18 -
20-33500907-A-G ACSS2 c.383A>G p.N128S Missense 3/18 -
20-33501946-G-C ACSS2 c.691G>C p.D231H Missense 6/18 -
20-33509200-T-A ACSS2 c.1345T>A p.W449R Missense 11/18 -
20-33508429-T-A ACSS2 c.1060T>A p.W354R Missense 9/18 -
20-33508429-T-C ACSS2 c.1060T>C p.W354R Missense 9/18 -
12-81624900-T-C ACSS3 c.1579T>C p.Y527H Missense 12/16 -
1-229567481-G-A ACTA1 c.977C>T p.T326I Missense 6/7 -
10-90697882-G-A ACTA2 c.926C>T p.P309L Missense 8/9 -
10-90699287-G-T ACTA2 c.785C>A p.T262N Missense 7/9 -
5-56777481-T-C ACTBL2 c.1054A>G p.T352A Missense 1/1 -
5-56777916-G-A ACTBL2 c.619C>T p.R207W Missense 1/1 -
5-56777945-C-T ACTBL2 c.590G>A p.R197Q Missense 1/1 -
5-56778213-C-T ACTBL2 c.322G>A p.E108K Missense 1/1 -
5-56778287-A-G ACTBL2 c.248T>C p.M83T Missense 1/1 -
5-56778305-A-G ACTBL2 c.230T>C p.V77A Missense 1/1 -
5-56778423-G-T ACTBL2 c.112C>A p.R38S Missense 1/1 -
2-74141956-C-T ACTG2 c.763C>T p.R255C Missense 7/9 -
2-74146561-T-G ACTG2 c.990T>G p.I330M Missense 9/9 -
20-32255692-C-T ACTL10 c.389C>T p.P130L Missense 1/1 -
3-179294052-C-T ACTL6A c.524C>T p.T175I Missense 6/14 -
3-179294509-T-A ACTL6A c.673T>A p.S225T Missense 7/14 -
9-111624712-C-T ACTL7A c.110C>T p.P37L Missense 1/1 -
9-111624813-G-A ACTL7A c.211G>A p.A71T Missense 1/1 -
9-111624861-G-A ACTL7A c.259G>A p.G87S Missense 1/1 -
9-111625033-A-T ACTL7A c.431A>T p.D144V Missense 1/1 -
9-111625149-T-C ACTL7A c.547T>C p.Y183H Missense 1/1 -
9-111625197-G-A ACTL7A c.595G>A p.A199T Missense 1/1 -
9-111625242-G-A ACTL7A c.640G>A p.G214S Missense 1/1 -
9-111625374-A-T ACTL7A c.772A>T p.N258Y Missense 1/1 -
9-111625629-C-G ACTL7A c.1027C>G p.L343V Missense 1/1 -
9-111625851-G-A ACTL7A c.1249G>A p.V417I Missense 1/1 -
9-111617367-C-T ACTL7B c.844G>A p.E282K Missense 1/1 -
9-111617824-G-C ACTL7B c.387C>G p.I129M Missense 1/1 -
1-18149592-C-T ACTL8 c.89C>T p.P30L Missense 2/3 -
19-8807853-C-T ACTL9 c.1199G>A p.R400Q Missense 1/1 -
19-8807905-C-T ACTL9 c.1147G>A p.G383R Missense 1/1 -
19-8807905-C-G ACTL9 c.1147G>C p.G383R Missense 1/1 -
19-8808028-C-T ACTL9 c.1024G>A p.G342S Missense 1/1 -
14-69356945-A-C ACTN1 c.1145T>G p.L382W Missense 11/22 -
14-69369232-C-T ACTN1 c.724G>A p.V242M Missense 8/22 -
14-69376069-C-T ACTN1 c.560G>A p.R187Q Missense 6/22 -
1-236891020-C-A ACTN2 c.579C>A p.H193Q Missense 6/21 -
1-236891020-C-G ACTN2 c.579C>G p.H193Q Missense 6/21 -
1-236917289-G-A ACTN2 c.1882G>A p.E628K Missense 16/21 -
1-236920792-C-A ACTN2 c.2161C>A p.R721S Missense 18/21 -
1-236924333-C-T ACTN2 c.2386C>T p.R796C Missense 20/21 -
1-236924424-A-T ACTN2 c.2477A>T p.D826V Missense 20/21 -
1-236925911-G-A ACTN2 c.2677G>A p.D893N Missense 21/21 -
19-39220016-G-A ACTN4 c.2680G>A p.G894S Missense 21/21 -
14-58667012-A-G ACTR10 c.77A>G p.K26R Missense 1/13 -
14-58680370-C-G ACTR10 c.472C>G p.L158V Missense 6/13 -
2-98274979-C-T ACTR1B c.568G>A p.V190I Missense 6/11 -
2-98275089-G-A ACTR1B c.458C>T p.T153M Missense 6/11 -
2-98275102-C-T ACTR1B c.445G>A p.A149T Missense 6/11 -
2-98275402-A-G ACTR1B c.380T>C p.V127A Missense 5/11 -
2-98275863-G-C ACTR1B c.267C>G p.I89M Missense 4/11 -
2-65473826-A-T ACTR2 c.328A>T p.T110S Missense 3/9 -
2-114688945-A-G ACTR3 c.404A>G p.N135S Missense 5/12 -
20-37377173-G-A ACTR5 c.52G>A p.V18M Missense 1/9 -
20-37378721-G-A ACTR5 c.444G>A p.M148I Missense 2/9 -
20-37380925-G-A ACTR5 c.757G>A p.A253T Missense 3/9 -
20-37394941-C-G ACTR5 c.1354C>G p.P452A Missense 7/9 -
20-37400374-C-T ACTR5 c.1739C>T p.P580L Missense 9/9 -
20-37400388-C-T ACTR5 c.1753C>T p.R585C Missense 9/9 -
12-100598719-G-T ACTR6 c.70G>T p.V24F Missense 2/11 -
3-53902804-C-T ACTR8 c.1817G>A p.R606Q Missense 13/13 -
3-53908380-G-A ACTR8 c.923C>T p.A308V Missense 8/13 -
3-53911768-T-G ACTR8 c.416A>C p.Y139S Missense 4/13 -
X-127185153-A-T ACTRT1 c.1033T>A p.S345T Missense 1/1 -
X-127185247-C-A ACTRT1 c.939G>T p.R313S Missense 1/1 -
X-127186085-A-G ACTRT1 c.101T>C p.V34A Missense 1/1 -
1-2938416-T-C ACTRT2 c.166T>C p.Y56H Missense 1/1 -
1-2938728-G-A ACTRT2 c.478G>A p.G160R Missense 1/1 -
1-2938887-G-A ACTRT2 c.637G>A p.V213M Missense 1/1 -
1-2938924-T-G ACTRT2 c.674T>G p.L225W Missense 1/1 -
1-2938989-G-C ACTRT2 c.739G>C p.G247R Missense 1/1 -
3-169485790-G-C ACTRT3 c.549C>G p.D183E Missense 2/2 -
3-169485790-G-T ACTRT3 c.549C>A p.D183E Missense 2/2 -
3-169485845-A-G ACTRT3 c.494T>C p.F165S Missense 2/2 -
12-52380708-C-G ACVR1B c.1243C>G p.R415G Missense 7/9 -
2-158406803-C-G ACVR1C c.646G>C p.G216R Missense 4/9 -
2-158406865-A-G ACVR1C c.584T>C p.I195T Missense 4/9 -
3-38519870-C-G ACVR2B c.527C>G p.P176R Missense 5/11 -
12-52308356-C-A ACVRL1 c.759C>A p.H253Q Missense 6/10 -
12-52308356-C-G ACVRL1 c.759C>G p.H253Q Missense 6/10 -
12-52312771-A-T ACVRL1 c.1249A>T p.I417F Missense 9/10 -
12-52314610-C-T ACVRL1 c.1445C>T p.A482V Missense 10/10 -
11-67412537-A-G ACY3 c.613T>C p.F205L Missense 6/8 -
11-67414352-G-C ACY3 c.163C>G p.P55A Missense 3/8 -
11-67414358-C-T ACY3 c.157G>A p.A53T Missense 3/8 -
20-43249036-T-C ADA c.982A>G p.N328D Missense 11/12 -
20-43252858-A-T ADA c.591T>A p.H197Q Missense 6/12 -
12-88512304-A-AT CEP290 c.1666_1666dupA p.I556Nfs*20 Frameshift 17/54 -
1-19228997-GC-G ALDH4A1 c.21delG p.L8Sfs*23 Frameshift 1/15 -
1-63063592-GAACTC-G ANGPTL3 c.363_367delCTCAA p.N121Kfs*3 Frameshift 1/7 -
1-94508983-CT-C ABCA4 c.3098delA p.K1033Sfs*51 Frameshift 21/50 -
1-100382283-G-GA AGL c.4478_4478dupA p.R1494Efs*13 Frameshift 33/34 -
1-114442983-TCA-T AP4B1 c.656_657delTG p.L219* Frameshift 5/10 -
1-114442773-GCT-G AP4B1 c.865_866delAG p.S289Pfs*2 Frameshift 5/10 -
1-150526225-CCAGAGCCCAGGCCTCTGGCA-C ADAMTSL4 c.767_786del20 p.Q256Pfs*38 Frameshift 6/19 -
2-38302435-C-CGGTGGCATGA CYP1B1 c.96_97insTCATGCCACC p.V33Sfs*194 Frameshift 2/3 -
2-38298421-TTCTGCCTGCACTC-T CYP1B1 c.1064_1076del13 p.R355Hfs*69 Frameshift 3/3 -
2-58390594-C-CTTAA FANCL c.749_750insTTAA p.E250Dfs*2 Frameshift 9/14 -
2-179436954-G-GA TTN c.73904dupT p.S24636Lfs*8 Frameshift 326/363 -
2-179436379-G-GA TTN c.74479_74480insT p.T24827Ifs*10 Frameshift 326/363 -
2-179436580-G-GA TTN c.74278_74279insT p.T24760Ifs*2 Frameshift 326/363 -
2-179412957-T-TA TTN c.93395dupT p.L31132Ffs*5 Frameshift 339/363 -
2-179408695-G-GA TTN c.96175_96176insT p.A32059Vfs*4 Frameshift 346/363 -
2-179400243-T-TA TTN c.101098_101099insT p.D33700Vfs*13 Frameshift 358/363 -
2-182542971-T-TG NEUROD1 c.616_616dupC p.H206Pfs*38 Frameshift 2/2 -
2-233407223-CCT-C CHRNG c.597_598delCT p.F200Hfs*97 Frameshift 6/12 -
3-71830677-AT-A PROK2 c.163delA p.I55* Frameshift 2/4 -
3-120366735-T-TC HGD c.457_457dup p.D153Gfs*26 Frameshift 7/14 -
3-121527824-GAA-G IQCB1 c.424_425delTT p.F142Pfs*5 Frameshift 6/15 -
3-148727064-TG-T GYG1 c.487delG p.D163Tfs*5 Frameshift 5/8 -
3-182775102-TGG-T MCCC1 c.868_869delCC p.P290Sfs*5 Frameshift 8/19 -
3-182788804-ACT-A MCCC1 c.743_744delAG p.K248Ifs*15 Frameshift 7/19 -
3-182763230-CTG-C MCCC1 c.1052_1053delCA p.T351Rfs*3 Frameshift 10/19 -
3-182759427-CCA-C MCCC1 c.1193_1194delTG p.V398Gfs*19 Frameshift 11/19 -
3-182763204-TAA-T MCCC1 c.1079_1080delTT p.L360Qfs*25 Frameshift 10/19 -
3-182775129-GTC-G MCCC1 c.842_843delGA p.R281Pfs*6 Frameshift 8/19 -
4-16008260-T-TA PROM1 c.1354_1354dup p.Y452Lfs*13 Frameshift 13/28 -
4-16008287-G-GA PROM1 c.1327_1327dupT p.S443Ffs*22 Frameshift 13/28 -
4-79238630-AG-A FRAS1 c.1931delG p.G644Vfs*53 Frameshift 17/74 -
4-146567164-ATGAC-A MMAA c.593_596delCTGA p.T198Sfs*6 Frameshift 4/7 -
4-175443135-CAG-C HPGD c.175_176delCT p.L59Vfs*8 Frameshift 2/7 -
5-54529089-T-TGGGCC CCNO c.258_262dup p.Q88Rfs*8 Frameshift 1/3 -
5-54529089-T-TGGGCCGGGCC CCNO c.253_262dup p.Q88Rfs*51 Frameshift 1/3 -
5-70900186-A-AT MCCC2 c.517_517dup p.S173Ffs*25 Frameshift 6/17 -
5-80109505-TC-T MSH3 c.2760delC p.Y921Mfs*36 Frameshift 20/24 -
6-31085224-G-GAGGC CDSN c.164_167dup p.T57Pfs*6 Frameshift 2/2 -
6-42937451-AAGGCCTCC-A PEX6 c.1314_1321delGGAGGCCT p.E439Gfs*3 Frameshift 5/17 -
6-42941812-TTCCTGGAC-T PEX6 c.1051_1058delGTCCAGGA p.V351Rfs*31 Frameshift 3/17 -
7-33407440-TGCTC-T BBS9 c.1757_1760delCTCG p.A586Efs*26 Frameshift 17/23 -
6-64709007-TG-T EYS c.6794delC p.P2265Qfs*46 Frameshift 34/43 -
6-70411362-TC-T LMBRD1 c.1056delG p.N353Ifs*18 Frameshift 11/16 -
6-80878706-CAG-C BCKDHB c.595_596delAG p.P200* Frameshift 5/10 -
6-80877434-GGA-G BCKDHB c.383_384delGA p.G128Dfs*30 Frameshift 4/10 -
6-112390565-A-AAC CCN6 c.861_862insAC p.P270Tfs*44 Frameshift 5/5 -
6-112382280-A-AAC CCN6 c.189_190insAC p.Q46Tfs*21 Frameshift 2/5 -
6-112390619-T-TAC WISP3 c.862_863dup p.Q289Lfs*25 Frameshift 5/5 -
7-2583388-C-CT BRAT1 c.638_638dup p.V214Gfs*189 Frameshift 5/14 -
7-6026969-C-CT PMS2 c.1426_1426dupA p.S476Kfs*8 Frameshift 11/15 -
7-6026873-A-AT PMS2 c.1522_1522dupA p.I508Nfs*34 Frameshift 11/15 -
8-133650254-AAG-A DNAAF11 c.354_355delCT p.F119Sfs*10 Frameshift 4/12 -
7-33407455-TCTTG-T BBS9 c.1774_1777delGCTT p.A592Pfs*20 Frameshift 17/23 -
7-33423349-TCAAG-T BBS9 c.1861_1864delCAAG p.Q621Nfs*27 Frameshift 18/23 -
7-33423363-AAAAC-A BBS9 c.1877_1880delAACA p.K626Rfs*22 Frameshift 18/23 -
7-33388755-TTGTG-T BBS9 c.1405_1408delTGTG p.C469Ifs*8 Frameshift 13/23 -
7-33390908-TGCTG-T BBS9 c.1510_1513delGCTG p.A504Lfs*27 Frameshift 14/23 -
7-33390896-ATTGG-A BBS9 c.1498_1501delTTGG p.L500Kfs*31 Frameshift 14/23 -
7-33407424-TTCAC-T BBS9 c.1741_1744delCACT p.H581Sfs*2 Frameshift 17/23 -
7-33397516-TTGCC-T BBS9 c.1604_1607delGCCT p.C535Yfs*40 Frameshift 16/23 -
7-117188720-C-CAGAT CFTR c.1236_1237insGATA p.K413Dfs*6 Frameshift 10/27 -
7-117188810-A-AAGAT CFTR c.1327_1330dup p.I444Rfs*3 Frameshift 10/27 -
7-143036379-ATACCCTGCGGAGGC-A CLCN1 c.1437_1450del14 p.P480Hfs*24 Frameshift 13/23 -
8-133645040-CTT-C DNAAF11 c.598_599delAA p.K200Efs*3 Frameshift 5/12 -
8-133669090-ATT-A DNAAF11 c.240_241delAA p.K80Nfs*8 Frameshift 3/12 -
10-17130245-AG-A CUBN c.1865delC p.T622Ifs*7 Frameshift 15/67 -
10-100195072-TG-T HPS1 c.355delC p.H119Tfs*5 Frameshift 5/20 -
10-100481513-CAG-C HPSE2 c.856_857delCT p.L286Efs*19 Frameshift 5/12 -
10-100380434-AAT-A HPSE2 c.1129_1130delAT p.I377Lfs*3 Frameshift 8/12 -
10-100374687-CGA-C HPSE2 c.1292_1293delTC p.L431Rfs*6 Frameshift 9/12 -
10-127462856-T-TG MMP21 c.240_240dup p.K81Qfs*177 Frameshift 2/7 -
11-32456756-GC-G WT1 c.136delG p.A51Pfs*31 Frameshift 1/10 -
11-68707125-CAG-C IGHMBP2 c.2911_2912delAG p.R971Efs*4 Frameshift 15/15 -
11-108106541-TATCTC-T ATM c.478_482delTCTCA p.S160Afs*23 Frameshift 5/63 -
11-118897358-TAC-T SLC37A4 c.824_825delGT p.V275Rfs*50 Frameshift 8/11 -
11-118895914-TCC-T SLC37A4 c.1109_1110delGG p.G370Tfs*31 Frameshift 10/11 -
11-119216279-G-GA MFRP c.491_492insT p.N167Qfs*34 Frameshift 5/15 -
12-6153463-CG-C VWF c.2435delC p.P812Rfs*31 Frameshift 18/52 -
12-56118186-CCT-C RDH5 c.814_815delCT p.L272Dfs*63 Frameshift 5/5 -
12-56115685-CTA-C RDH5 c.523_524delTA p.Y175Lfs*12 Frameshift 3/5 -
12-88523489-G-GT CEP290 c.832_832dupA p.N278Kfs*20 Frameshift 10/54 -
12-88512477-A-AT CEP290 c.1564_1564dupA p.N522Kfs*2 Frameshift 16/54 -
12-123738316-T-TATCC C12orf65 c.96_99dup p.P34Ifs*25 Frameshift 2/3 -
13-20796930-A-AT GJB6 c.689_689dup p.N230Kfs*11 Frameshift 5/5 -
13-108862543-CAGAAT-C LIG4 c.1070_1074delATTCT p.D357Gfs*10 Frameshift 3/3 -
14-45628313-G-GA FANCM c.1413_1413dupA p.K473Efs*3 Frameshift 9/23 -
14-45628392-C-CA FANCM c.1491_1491dupA p.Q498Tfs*7 Frameshift 9/23 -
15-32929344-CAT-C ARHGAP11A c.2370_2371delAT p.C791* Frameshift 12/12 -
15-32928777-AAG-A ARHGAP11A c.1803_1804delAG p.K601Nfs*4 Frameshift 12/12 -
15-72638887-C-CGATA HEXA c.1310_1311insTATC p.E438Ifs*7 Frameshift 11/14 -
15-73614928-CCAAA-C HCN4 c.3502_3505delTTTG p.F1168Gfs*12 Frameshift 8/8 -
17-33902991-AAG-A PEX12 c.888_889delCT p.L297Tfs*12 Frameshift 3/3 -
17-36493522-AG-A GPR179 c.984delC p.S329Lfs*4 Frameshift 3/11 -
17-41052969-TC-T G6PC1 c.79delC p.Q27Rfs*9 Frameshift 1/5 -
17-56358094-GAGAGAAGAGAAGAA-G MPO c.13_26del14 p.F5Qfs*38 Frameshift 1/12 -
17-59761413-CTTTG-C BRIP1 c.2990_2993delCAAA p.T997Rfs*61 Frameshift 20/20 -
19-15636205-C-CG CYP4F22 c.59_59dupG p.I21Hfs*59 Frameshift 3/14 -
19-41110944-CT-C LTBP4 c.254delT p.L85Rfs*4 Frameshift 2/31 -
19-50365327-A-AGTTGTCGATGGCGACCC PNKP c.1161_1162insGGGTCGCCATCGACAAC p.S388Gfs*13 Frameshift 13/17 -
19-50365312-G-GGTTGTCGATGGCGACCC PNKP c.1176_1177insGGGTCGCCATCGACAAC p.H393Gfs*8 Frameshift 13/17 -
19-57742656-TC-T AURKC c.40delC p.Q14Nfs*58 Frameshift 1/7 -
19-57743136-GC-G AURKC c.85delC p.Q29Sfs*43 Frameshift 2/7 -
20-21112767-AAACT-A KIZ c.119_122delAACT p.K40Ifs*14 Frameshift 2/14 -
20-45355546-AG-A SLC2A10 c.1334delG p.G445Efs*40 Frameshift 3/5 -
8-133881997-GC-G TG c.202delC p.R68Afs*38 Frameshift 3/48 -
21-47565839-G-GC FTCD c.990_990dup p.P331Afs*2 Frameshift 9/14 -
22-23917217-AC-A IGLL1 c.258delG p.Q88Nfs*7 Frameshift 2/3 -
8-133883595-TC-T TG c.277delC p.L93Cfs*13 Frameshift 4/48 -
22-38122413-CAG-C TRIOBP c.3854_3855delGA p.R1285Tfs*95 Frameshift 7/24 -
22-51066047-A-AG ARSA c.160_160dupC p.L54Pfs*22 Frameshift 1/8 -
22-51065640-T-TG ARSA c.418_418dupC p.H140Pfs*36 Frameshift 2/8 -
13-101763478-GCG-TCA NALCN c.2290_2292delCGCinsTGA p.R764* Nonsense 19/44 -
13-103701773-G-A SLC10A2 c.785C>T p.T262M Missense 5/6 -
13-113772982-C-T F7 c.995C>T p.A332V Missense 8/8 -
13-115091085-C-A CHAMP1 c.1768C>A p.Q590K Missense 3/3 -
14-24729232-G-A TGM1 c.790C>T p.R264W Missense 5/15 -
14-31358879-T-C COCH c.1535T>C p.M512T Missense 12/12 -
14-32068516-G-T NUBPL c.313G>T p.D105Y Missense 4/11 -
14-39509974-T-C SEC23A c.2104A>G p.M702V Missense 18/20 -
14-54417117-C-T BMP4 c.860G>A p.R287H Missense 4/4 -
14-55310826-A-G GCH1 c.662T>C p.M221T Missense 6/6 -
14-64676751-C-T SYNE2 c.18632C>T p.T6211M Missense 103/116 -
14-64676265-C-T SYNE2 c.18509C>T p.T6170M Missense 102/116 -
14-66975273-A-T GPHN c.28A>T p.N10Y Missense 1/23 -
15-42693949-C-T CAPN3 c.1465C>T p.R489W Missense 11/24 -
15-42702191-G-A CAPN3 c.2113G>A p.D705N Missense 19/24 -
15-42702858-G-A CAPN3 c.2257G>A p.D753N Missense 21/24 -
15-42703497-C-A CAPN3 c.2393C>A p.A798E Missense 23/24 -
15-42702850-C-A CAPN3 c.2249C>A p.A750E Missense 21/24 -
15-42678383-C-A CAPN3 c.398C>A p.A133E Missense 3/24 -
15-48782203-C-T FBN1 c.2927G>A p.R976H Missense 25/66 -
15-49059645-A-C CEP152 c.2034T>G p.Y678* Nonsense 16/27 -
15-49060434-T-C CEP152 c.2000A>G p.K667R Missense 15/27 -
16-1841827-C-CGCGCAGGCT IGFALS c.583_591dup p.S195_R197dup InFrameInsertion 2/2 -
16-23200921-G-A SCNN1G c.547G>A p.G183S Missense 3/13 -
16-23200963-G-A SCNN1G c.589G>A p.E197K Missense 3/13 -
16-27454397-A-G IL21R c.467A>G p.Y156C Missense 5/9 -
16-31501798-A-G SLC5A2 c.1961A>G p.N654S Missense 14/14 -
16-56545141-G-C BBS2 c.401C>G p.P134R Missense 3/17 -
16-56548501-C-T BBS2 c.209G>A p.S70N Missense 2/17 -
17-6328870-GGGTGGCTCTGCA-G AIPL1 c.1053_1064del12 p.A352_P355del InFrameDeletion 6/6 -
17-6328935-GCTGCGTGGCACC-G AIPL1 c.988_999del12 p.G330_Q333del InFrameDeletion 6/6 -
17-6328943-GGCACCCTGGCTC-G AIPL1 c.981_992del12 p.S328_A331del InFrameDeletion 6/6 -
17-6328905-CGGGTGGCTCTGT-C AIPL1 c.1018_1029del12 p.T340_P343del