PMID: 35136070

SMAP is a pipeline for sample matching in proteogenomics.

Nature communications
Li, Ling L, Niu, Mingming M, Erickson, Alyssa A, Luo, Jie J, Rowbotham, Kincaid K, Guo, Kai K, Huang, He H, Li, Yuxin Y, Jiang, Yi Y, Hur, Junguk J, Liu, Chunyu C, Peng, Junmin J, Wang, Xusheng X
2022-02-08

2915 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-101568755-C-A NFKBIZ c.283C>A p.Q95K Missense 1/12 -
22-19951271-G-A COMT c.472G>A p.V158M Missense 4/6 -
4-72618334-A-C GC c.1296T>G p.D432E Missense 11/13 -
4-72618334-A-T GC c.1296T>A p.D432E Missense 11/13 -
4-72618323-G-T GC c.1307C>A p.T436K Missense 11/13 -
11-67257823-C-A AIP c.682C>A p.Q228K Missense 5/6 -
20-5904028-C-T CHGB c.1238C>T p.P413L Missense 4/5 -
19-19329924-C-T NCAN c.274C>T p.P92S Missense 3/15 -
2-234183368-A-G ATG16L1 c.898A>G p.T300A Missense 9/18 -
6-160113872-A-G SOD2 c.47T>C p.V16A Missense 2/5 -
19-45316704-T-A BCAM c.611T>A p.M204K Missense 6/15 -
14-94844947-C-T SERPINA1 c.1096G>A p.E366K Missense 5/5 -
19-10395683-A-G ICAM1 c.1405A>G p.K469E Missense 6/7 -
11-17418477-C-A ABCC8 c.4105G>T p.A1369S Missense 33/39 -
12-110013879-G-A MVK c.155G>A p.S52N Missense 3/11 -
5-96118852-G-C ERAP1 c.2188C>G p.Q730E Missense 15/19 -
1-110279701-C-T GSTM3 c.670G>A p.V224I Missense 9/9 -
18-31320229-A-G ASXL3 c.2861A>G p.N954S Missense 11/12 -
6-46672943-A-G PLA2G7 c.1136T>C p.V379A Missense 11/12 -
5-160042903-G-T ATP10B c.2595C>A p.N865K Missense 17/26 -
17-78305871-G-A RNF213 c.3583G>A p.V1195M Missense 21/68 -
14-20925154-T-A APEX1 c.444T>A p.D148E Missense 5/5 -
14-20925154-T-G APEX1 c.444T>G p.D148E Missense 5/5 -
12-121600253-T-C P2RX7 c.463T>C p.Y155H Missense 5/13 -
13-25029218-C-T PARP4 c.2695G>A p.A899T Missense 22/34 -
1-183085755-A-G LAMC1 c.1372A>G p.I458V Missense 7/28 -
5-96124330-T-C ERAP1 c.1583A>G p.K528R Missense 11/19 -
12-121592689-T-C P2RX7 c.227T>C p.V76A Missense 2/13 -
12-121622196-A-G P2RX7 c.1379A>G p.Q460R Missense 13/13 -
7-55229255-G-A EGFR c.1562G>A p.R521K Missense 13/28 -
4-38774889-T-C TLR10 c.2323A>G p.I775V Missense 4/4 -
10-5138747-A-G AKR1C3 c.230A>G p.E77G Missense 2/9 -
1-183094547-T-C LAMC1 c.2663T>C p.L888P Missense 15/28 -
14-24620821-A-T RNF31 c.1865A>T p.Q622L Missense 10/21 -
12-108956433-C-T ISCU c.35C>T p.A12V Missense 1/5 -
20-44642406-G-C MMP9 c.1721G>C p.R574P Missense 10/13 -
7-95041016-G-C PON2 c.443C>G p.A148G Missense 5/9 -
6-31595882-C-A PRRC2A c.1631C>A p.T544K Missense 12/31 -
16-3721773-G-C TRAP1 c.1185C>G p.D395E Missense 11/18 -
14-39556185-G-C SEC23A c.631C>G p.L211V Missense 6/20 -
4-178274835-A-T NEIL3 c.1413A>T p.Q471H Missense 8/10 -
4-178274835-A-C NEIL3 c.1413A>C p.Q471H Missense 8/10 -
1-150484987-G-A ECM1 c.1243G>A p.G415S Missense 8/10 -
12-11183286-G-C TAS2R31 c.649C>G p.Q217E Missense 1/1 -
10-105810400-T-C COL17A1 c.2107A>G p.M703V Missense 27/56 -
3-42906116-T-C ACKR2 c.122T>C p.V41A Missense 3/3 -
14-20924167-G-C APEX1 c.153G>C p.Q51H Missense 3/5 -
19-42231159-G-A CEACAM5 c.2032G>A p.G678R Missense 9/10 -
1-155175089-C-T THBS3 c.305G>A p.R102Q Missense 3/23 -
19-10742170-A-G SLC44A2 c.461A>G p.Q154R Missense 7/22 -
3-52556890-A-G STAB1 c.6844A>G p.I2282V Missense 62/69 -
13-26273432-G-A ATP8A2 c.2333G>A p.R778Q Missense 25/37 -
10-30316072-C-G KIAA1462 c.3005G>C p.S1002T Missense 3/4 -
1-226026406-A-G EPHX1 c.416A>G p.H139R Missense 4/9 -
19-16025176-C-T CYP4F11 c.1336G>A p.D446N Missense 11/12 -
21-37518706-G-A CBR3 c.730G>A p.V244M Missense 3/3 -
22-41903841-C-G ACO2 c.220C>G p.L74V Missense 3/18 -
19-2109157-T-C AP3D1 c.3400A>G p.I1134V Missense 30/32 -
1-197070697-T-C ASPM c.7684A>G p.S2562G Missense 18/28 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
19-10475652-C-A TYK2 c.1084G>T p.V362F Missense 8/25 -
3-98307696-T-G CPOX c.814A>C p.N272H Missense 4/7 -
18-21140432-T-C NPC1 c.644A>G p.H215R Missense 6/25 -
3-108147728-T-C MYH15 c.3373A>G p.T1125A Missense 28/42 -
7-12269417-C-G TMEM106B c.554C>G p.T185S Missense 5/8 -
5-138857919-T-C TMEM173 c.695A>G p.H232R Missense 6/8 -
2-86400824-G-A IMMT c.370C>T p.P124S Missense 4/15 -
6-24503590-C-T ALDH5A1 c.538C>T p.H180Y Missense 3/10 -
12-6711147-C-A CHD4 c.417G>T p.E139D Missense 4/40 -
12-6711147-C-G CHD4 c.417G>C p.E139D Missense 4/40 -
9-132580901-C-G TOR1A c.646G>C p.D216H Missense 4/5 -
1-158597507-G-C SPTA1 c.5572C>G p.L1858V Missense 40/52 -
2-202626242-C-T ALS2 c.475G>A p.E159K Missense 4/34 -
9-139368953-G-A SEC16A c.3115C>T p.R1039C Missense 3/32 -
11-7694002-G-A CYB5R2 c.55C>T p.P19S Missense 2/9 -
8-67380528-T-C ADHFE1 c.1345T>C p.C449R Missense 14/14 -
1-196642233-G-A CFH c.184G>A p.V62I Missense 2/22 -
19-55527081-C-T GP6 c.745G>A p.A249T Missense 7/8 -
19-49671952-G-A TRPM4 c.755G>A p.R252H Missense 6/25 -
1-237841390-A-G RYR2 c.8873A>G p.Q2958R Missense 61/105 -
4-24801315-G-A SOD3 c.172G>A p.A58T Missense 2/2 -
7-107834613-G-C NRCAM c.1633C>G p.P545A Missense 17/33 -
2-138759649-C-T HNMT c.314C>T p.T105I Missense 4/6 -
1-186101539-A-G HMCN1 c.13310A>G p.Q4437R Missense 86/107 -
16-88709828-A-G CYBA c.521T>C p.V174A Missense 6/6 -
19-49658209-A-C HRC c.286T>G p.S96A Missense 1/6 -
17-42991449-C-T GFAP c.469G>A p.D157N Missense 2/9 -
17-648186-G-A GEMIN4 c.3097C>T p.R1033C Missense 2/2 -
11-619789-T-G CDHR5 c.1071A>C p.R357S Missense 10/15 -
14-24736961-T-C RABGGTA c.1258A>G p.T420A Missense 14/17 -
10-106022789-C-A GSTO1 c.419C>A p.A140D Missense 4/6 -
2-236957822-G-A AGAP1 c.2011G>A p.V671I Missense 16/18 -
7-100486754-G-C UFSP1 c.139C>G p.L47V Missense 1/1 -
1-182551337-A-C RNASEL c.1623T>G p.D541E Missense 4/7 -
5-7878179-C-T MTRR c.524C>T p.S175L Missense 5/15 -
5-78421959-G-A BHMT c.716G>A p.R239Q Missense 6/8 -
2-169847329-T-C ABCB11 c.890A>G p.E297G Missense 9/28 -
3-195800811-C-T TFRC c.424G>A p.G142S Missense 4/19 -
8-18080308-A-T NAT1 c.752A>T p.D251V Missense 3/3 -
14-64935411-C-T AKAP5 c.299C>T p.P100L Missense 2/2 -
22-30163526-A-G UQCR10 c.139A>G p.I47V Missense 1/2 -
1-113456546-A-T SLC16A1 c.1470T>A p.D490E Missense 5/5 -
11-102713620-T-C MMP3 c.133A>G p.K45E Missense 2/10 -
2-209108301-T-C IDH1 c.548A>G p.Y183C Missense 6/10 -
16-4033436-T-C ADCY9 c.2316A>G p.I772M Missense 7/11 -
14-88401213-T-C GALC c.1921A>G p.T641A Missense 17/17 -
17-78079597-A-G GAA c.596A>G p.H199R Missense 3/20 -
20-5903848-C-G CHGB c.1058C>G p.A353G Missense 4/5 -
14-93399101-C-T CHGA c.1195C>T p.R399W Missense 7/8 -
19-13409696-C-G CACNA1A c.2751G>C p.E917D Missense 19/47 -
19-13409472-T-A CACNA1A c.2975A>T p.E992V Missense 19/47 -
6-38650628-T-G GLO1 c.332A>C p.E111A Missense 4/6 -
19-45412314-T-A APOE c.761T>A p.V254E Missense 4/4 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
17-38122680-G-C GSDMA c.382G>C p.V128L Missense 3/12 -
12-88440676-G-C C12orf29 c.712G>C p.V238L Missense 6/7 -
11-237087-A-G PSMD13 c.38A>G p.N13S Missense 1/13 -
10-81926702-G-A ANXA11 c.688C>T p.R230C Missense 7/16 -
17-38122680-G-T GSDMA c.382G>T p.V128L Missense 3/12 -
19-41510282-A-G CYP2B6 c.415A>G p.K139E Missense 3/9 -
1-36898067-T-C OSCP1 c.391A>G p.T131A Missense 3/10 -
5-256509-G-A SDHA c.1969G>A p.V657I Missense 15/15 -
1-53676448-G-A CPT2 c.1102G>A p.V368I Missense 4/5 -
16-31336888-C-T ITGAM c.2573C>T p.A858V Missense 21/30 -
7-91630620-G-T AKAP9 c.1389G>T p.M463I Missense 8/50 -
6-29012067-C-T OR2W1 c.886G>A p.D296N Missense 1/1 -
11-47188411-C-T ARFGAP2 c.1232G>A p.S411N Missense 13/16 -
22-36623920-G-A APOL2 c.544C>T p.R182C Missense 5/5 -
7-97822115-T-A LMTK2 c.2338T>A p.L780M Missense 11/14 -
1-145608556-C-T POLR3C c.251G>A p.R84Q Missense 3/16 -
14-94847386-G-A SERPINA1 c.739C>T p.R247C Missense 3/5 -
1-36886117-C-T OSCP1 c.919G>A p.G307R Missense 8/10 -
11-11986061-T-C DKK3 c.1003A>G p.R335G Missense 7/7 -
6-49415448-C-T MUT c.1495G>A p.A499T Missense 8/13 -
6-49403282-T-C MUT c.2011A>G p.I671V Missense 12/13 -
11-5246908-C-G HBB c.364G>C p.E122Q Missense 3/3 -
6-31324615-C-T HLA-B c.193G>A p.A65T Missense 2/8 -
3-58552329-C-G FAM107A c.421G>C p.E141Q Missense 4/4 -
11-118352769-G-A KMT2A c.3974G>A p.S1325N Missense 7/36 -
19-10887847-G-A DNM2 c.643G>A p.D215N Missense 5/21 -
9-135203409-A-C SETX c.3576T>G p.D1192E Missense 10/26 -
9-135203409-A-T SETX c.3576T>A p.D1192E Missense 10/26 -
6-161807855-C-G PARK2 c.1138G>C p.V380L Missense 10/12 -
14-105643046-C-T NUDT14 c.253G>A p.G85R Missense 4/5 -
10-5008137-A-G AKR1C1 c.116A>G p.K39R Missense 2/9 -
12-53516878-G-A SOAT2 c.1250G>A p.R417Q Missense 13/15 -
14-96777468-G-C ATG2B c.4147C>G p.Q1383E Missense 28/42 -
11-71943961-C-A INPPL1 c.1894C>A p.L632I Missense 16/28 -
15-78454050-T-A IDH3A c.417T>A p.D139E Missense 5/11 -
1-226567661-G-A PARP1 c.1505C>T p.A502V Missense 10/23 -
3-14220032-C-G XPC c.37G>C p.G13R Missense 1/16 -
6-29912857-C-G HLA-A c.1034C>G p.T345S Missense 6/8 -
5-73076511-C-A ARHGEF28 c.851C>A p.P284Q Missense 7/36 -
1-51826921-T-C EPS15 c.2466A>G p.I822M Missense 24/25 -
9-38396002-C-T ALDH1B1 c.257C>T p.A86V Missense 2/2 -
1-8045079-G-A PARK7 c.535G>A p.A179T Missense 7/7 -
11-65547333-G-A AP5B1 c.631C>T p.L211F Missense 2/2 -
12-114837349-C-A TBX5 c.331G>T p.D111Y Missense 4/9 -
12-52842643-C-T KRT6B c.1186G>A p.D396N Missense 6/9 -
11-62473053-G-A BSCL2 c.124C>T p.R42C Missense 2/11 -
5-153413390-C-T FAM114A2 c.364G>A p.G122S Missense 4/14 -
11-57571209-A-G CTNND1 c.1537A>G p.N513D Missense 8/21 -
18-48458662-G-A ME2 c.1349G>A p.G450E Missense 13/16 -
12-57037209-T-C ATP5F1B c.770A>G p.N257S Missense 5/10 -
8-145732180-G-C GPT c.1354G>C p.V452L Missense 10/11 -
6-80626375-T-C ELOVL4 c.895A>G p.M299V Missense 6/6 -
3-13395579-C-A NUP210 c.2357G>T p.R786L Missense 17/40 -
14-21542766-A-G ARHGEF40 c.877A>G p.K293E Missense 3/24 -
10-68040325-C-T CTNNA3 c.1787G>A p.S596N Missense 13/18 -
20-3577062-G-A ATRN c.3455G>A p.R1152K Missense 21/29 -
10-105762972-T-C SLK c.2036T>C p.I679T Missense 9/19 -
11-86123556-A-G CCDC81 c.1346A>G p.Y449C Missense 11/15 -
22-37407109-G-C TST c.853C>G p.P285A Missense 3/3 -
19-11350488-C-T ANGPTL8 c.175C>T p.R59W Missense 1/4 -
22-23523285-G-T BCR c.138G>T p.E46D Missense 1/23 -
1-46032311-A-G AKR1A1 c.155A>G p.N52S Missense 3/9 -
16-14969016-T-G NOMO1 c.2178T>G p.N726K Missense 19/31 -
16-14969016-T-A NOMO1 c.2178T>A p.N726K Missense 19/31 -
16-70512234-C-T FCSK c.2701C>T p.R901W Missense 21/24 -
19-4013276-A-T PIAS4 c.383A>T p.K128M Missense 2/11 -
17-42745254-C-A MEIOC c.1975C>A p.R659S Missense 5/8 -
10-70645376-A-C STOX1 c.1824A>C p.E608D Missense 3/4 -
8-98703317-A-G MTDH c.949A>G p.T317A Missense 6/12 -
10-81923357-G-T ANXA11 c.962C>A p.T321N Missense 10/16 -
12-104187732-G-T NT5DC3 c.797C>A p.A266E Missense 7/14 -
12-2908330-C-A FKBP4 c.591C>A p.N197K Missense 5/10 -
1-89523756-G-T GBP1 c.793C>A p.Q265K Missense 6/11 -
11-108586617-A-G DDX10 c.1334A>G p.E445G Missense 11/18 -
17-30183857-T-C COPRS c.127A>G p.S43G Missense 2/4 -
17-663472-C-A GLOD4 c.838G>T p.A280S Missense 9/9 -
8-120596023-A-G ENPP2 c.1477T>C p.S493P Missense 17/25 -
16-58752466-C-T GOT2 c.562G>A p.G188S Missense 5/10 -
10-101912064-T-C ERLIN1 c.871A>G p.I291V Missense 11/11 -
1-110466555-G-A CSF1 c.1312G>A p.G438R Missense 6/9 -
14-94847415-A-G SERPINA1 c.710T>C p.V237A Missense 3/5 -
9-127262802-C-G NR5A1 c.437G>C p.G146A Missense 4/7 -
1-234745009-A-G IRF2BP2 c.232T>C p.S78P Missense 1/2 -
2-159517871-C-T PKP4 c.2120C>T p.A707V Missense 13/22 -
17-56787304-G-A RAD51C c.790G>A p.G264S Missense 5/9 -
5-132408967-G-A HSPA4 c.475G>A p.A159T Missense 5/19 -
10-64564934-C-G ADO c.115C>G p.P39A Missense 1/1 -
9-136501756-G-C DBH c.263G>C p.G88A Missense 1/12 -
11-121393684-G-A SORL1 c.1582G>A p.A528T Missense 11/48 -
5-160042903-G-C ATP10B c.2595C>G p.N865K Missense 17/26 -
12-107360943-G-A TMEM263 c.49G>A p.D17N Missense 3/4 -
17-78078656-G-A GAA c.271G>A p.D91N Missense 2/20 -
14-21549893-G-C ARHGEF40 c.2866G>C p.V956L Missense 14/24 -
17-78306280-A-G RNF213 c.3992A>G p.D1331G Missense 21/68 -
18-74728823-C-T MBP c.541G>A p.G181S Missense 4/9 -
19-8326904-G-A CERS4 c.1096G>A p.A366T Missense 12/12 -
2-55872538-T-C PNPT1 c.1768A>G p.N590D Missense 22/28 -
20-1426393-C-T NSFL1C c.868G>A p.D290N Missense 8/9 -
7-89984409-A-G GTPBP10 c.329A>G p.N110S Missense 4/10 -
17-5461671-G-C NLRP1 c.2345C>G p.T782S Missense 4/17 -
9-139235415-C-T GPSM1 c.1172C>T p.S391L Missense 9/14 -
4-128811117-G-C PLK4 c.1556G>C p.W519S Missense 7/16 -
10-81925866-T-C ANXA11 c.832A>G p.I278V Missense 8/16 -
1-184020945-G-A TSEN15 c.56G>A p.G19D Missense 1/5 -
2-111598958-C-T ACOXL c.764C>T p.T255M Missense 10/18 -
15-62254989-T-C VPS13C c.3394A>G p.I1132V Missense 33/85 -
21-38081500-G-A SIM2 c.208G>A p.A70T Missense 2/11 -
5-169015479-G-A SPDL1 c.59G>A p.R20Q Missense 2/12 -
22-19959473-C-T ARVCF c.2717G>A p.R906Q Missense 18/20 -
22-43558972-G-A TSPO c.485G>A p.R162H Missense 4/4 -
17-46022065-G-A PNPO c.347G>A p.R116Q Missense 3/7 -
4-71888240-C-T DCK c.364C>T p.P122S Missense 3/7 -
20-39797465-T-C PLCG1 c.2438T>C p.I813T Missense 21/32 -
7-1976457-C-T MAD1L1 c.1673G>A p.R558H Missense 17/19 -
14-68265135-G-A ZFYVE26 c.1844C>T p.S615F Missense 11/42 -
11-113270160-A-G ANKK1 c.1469A>G p.H490R Missense 8/8 -
17-78079669-G-A GAA c.668G>A p.R223H Missense 3/20 -
1-16256007-T-C SPEN c.3272T>C p.L1091P Missense 11/15 -
2-208632817-G-A FZD5 c.647C>T p.P216L Missense 2/2 -
22-29885473-C-T NEFH c.1844C>T p.P615L Missense 4/4 -
6-100964147-G-C ASCC3 c.5984C>G p.S1995C Missense 39/42 -
11-46898771-T-C LRP4 c.3256A>G p.I1086V Missense 23/38 -
11-68562328-C-T CPT1A c.823G>A p.A275T Missense 8/19 -
20-25398748-C-T GINS1 c.247C>T p.R83C Missense 4/7 -
17-649935-G-C GEMIN4 c.1348C>G p.Q450E Missense 2/2 -
12-3724583-T-C CRACR2A c.2134A>G p.T712A Missense 20/20 -
6-109323519-G-T SESN1 c.307C>A p.L103I Missense 2/10 -
7-134135621-T-C AKR1B1 c.268A>G p.K90E Missense 3/10 -
19-2226772-G-C DOT1L c.4252G>C p.V1418L Missense 27/28 -
9-271638-C-T DOCK8 c.65C>T p.A22V Missense 2/48 -
7-24758818-G-T DFNA5 c.424C>A p.P142T Missense 4/10 -
21-47558552-G-A FTCD c.1313C>T p.A438V Missense 12/14 -
17-71196139-C-T COG1 c.1049C>T p.T350M Missense 5/14 -
6-24291203-T-C DCDC2 c.661A>G p.S221G Missense 5/10 -
11-58978684-G-A MPEG1 c.1655C>T p.P552L Missense 1/1 -
4-9909923-G-A SLC2A9 c.1049C>T p.P350L Missense 8/12 -
6-161807855-C-A PRKN c.1138G>T p.V380L Missense 10/12 -
5-80409526-T-C RASGRF2 c.2257T>C p.S753P Missense 15/27 -
9-8518052-G-C PTPRD c.1339C>G p.Q447E Missense 21/46 -
17-42989063-C-T GFAP c.883G>A p.D295N Missense 5/9 -
17-42992715-G-A GFAP c.140C>T p.P47L Missense 1/9 -
17-42990750-C-G GFAP c.667G>C p.E223Q Missense 4/9 -
11-71726168-G-C NUMA1 c.2381C>G p.A794G Missense 15/27 -
16-89598369-G-A SPG7 c.1045G>A p.G349S Missense 8/17 -
11-33777334-C-T FBXO3 c.661G>A p.V221I Missense 5/11 -
3-167508198-G-A SERPINI1 c.289G>A p.V97I Missense 3/9 -
16-58743454-A-C GOT2 c.1037T>G p.V346G Missense 9/10 -
1-117122130-T-C IGSF3 c.3218A>G p.Q1073R Missense 10/11 -
12-128900005-G-A TMEM132C c.814G>A p.V272I Missense 2/9 -
5-33989518-C-T AMACR c.829G>A p.E277K Missense 5/5 -
15-45661678-T-A GATM c.330A>T p.Q110H Missense 3/9 -
15-45661678-T-G GATM c.330A>C p.Q110H Missense 3/9 -
18-43310415-G-A SLC14A1 c.130G>A p.E44K Missense 3/10 -
1-22150118-C-T LDLRAD2 c.*1410C>T - 3-UTRSNV 5/5 -
14-77845121-A-G SAMD15 c.1360A>G p.K454E Missense 1/3 -
2-152139416-G-A NMI c.47C>T p.S16L Missense 2/8 -
6-151674326-A-C AKAP12 c.4800A>C p.E1600D Missense 4/5 -
4-88416188-G-T SPARCL1 c.146C>A p.A49D Missense 3/11 -
1-75175886-T-C CRYZ c.526A>G p.I176V Missense 6/9 -
3-12848822-T-C CAND2 c.230T>C p.V77A Missense 3/15 -
3-58118555-G-A FLNB c.4411G>A p.V1471M Missense 26/46 -
16-30408765-C-T ZNF48 c.194C>T p.A65V Missense 3/3 -
9-140917779-G-T CACNA1B c.2584G>T p.A862S Missense 19/47 -
17-78302157-C-A RNF213 c.3397C>A p.Q1133K Missense 20/68 -
11-64789194-T-C ARL2 c.422T>C p.V141A Missense 5/5 -
15-43818052-G-A MAP1A c.4381G>A p.D1461N Missense 4/6 -
16-4933939-G-C PPL c.4717C>G p.Q1573E Missense 22/22 -
11-48166267-G-T PTPRJ c.2616G>T p.E872D Missense 13/25 -
3-49701298-G-A BSN c.11587G>A p.A3863T Missense 8/12 -
4-96106322-A-G UNC5C c.2162T>C p.M721T Missense 13/16 -
10-135184126-G-A ECHS1 c.224C>T p.T75I Missense 2/8 -
12-7090193-A-G LPCAT3 c.650T>C p.I217T Missense 6/13 -
13-25831888-T-C MTMR6 c.955A>G p.I319V Missense 8/14 -
14-105935824-G-A MTA1 c.1834G>A p.A612T Missense 19/21 -
1-205031116-C-T CNTN2 c.1097C>T p.P366L Missense 9/23 -
12-53069014-T-C KRT1 c.1898A>G p.K633R Missense 9/9 -
4-123838758-A-G NUDT6 c.340T>C p.C114R Missense 2/5 -
3-52523405-C-T NISCH c.3167C>T p.A1056V Missense 17/21 -
5-108714298-T-C PJA2 c.890A>G p.Q297R Missense 4/10 -
1-16259813-A-G SPEN c.7078A>G p.N2360D Missense 11/15 -
17-3947644-T-C ZZEF1 c.6040A>G p.I2014V Missense 38/55 -
3-16364954-C-T RFTN1 c.1261G>A p.V421I Missense 9/10 -
11-61108974-G-A TKFC c.553G>A p.A185T Missense 6/18 -
2-44004010-T-C DYNC2LI1 c.98T>C p.F33S Missense 2/13 -
1-93620393-G-A TMED5 c.524C>T p.T175I Missense 4/4 -
3-119219573-A-G TIMMDC1 c.226A>G p.N76D Missense 2/7 -
7-4841313-A-G RADIL c.2813T>C p.L938P Missense 12/15 -
9-131565554-T-C TBC1D13 c.569T>C p.V190A Missense 8/12 -
16-12897578-G-T CPPED1 c.56C>A p.A19D Missense 1/4 -
3-44884647-C-A KIF15 c.3616C>A p.L1206M Missense 30/35 -
6-5260936-A-C LYRM4 c.31T>G p.S11A Missense 1/3 -
10-25888180-A-G GPR158 c.3625A>G p.I1209V Missense 11/11 -
16-84522897-G-T MEAK7 c.516C>A p.D172E Missense 4/8 -
20-7963041-C-G TMX4 c.907G>C p.G303R Missense 8/8 -
2-38604351-A-G ATL2 c.52T>C p.W18R Missense 1/13 -
17-48628470-T-A SPATA20 c.1495T>A p.S499T Missense 12/17 -
3-46008790-G-A FYCO1 c.2036C>T p.A679V Missense 8/18 -
16-4445327-C-T CORO7 c.578G>A p.R193Q Missense 7/28 -
19-17450016-T-C GTPBP3 c.749T>C p.V250A Missense 6/9 -
4-169928842-G-T CBR4 c.208C>A p.L70M Missense 2/5 -
8-145057868-A-G PARP10 c.1889T>C p.V630A Missense 8/11 -
6-150184882-G-C LRP11 c.275C>G p.P92R Missense 1/7 -
1-27339103-G-T TENT5B c.59C>A p.T20K Missense 1/2 -
9-108147763-T-G SLC44A1 c.1930T>G p.S644A Missense 15/16 -
1-75214441-A-G TYW3 c.361A>G p.M121V Missense 4/6 -
1-110301260-C-T EPS8L3 c.487G>A p.G163S Missense 7/19 -
4-84383810-C-T ABRAXAS1 c.1042G>A p.A348T Missense 9/9 -
10-116719543-G-A TRUB1 c.500G>A p.R167K Missense 4/8 -
15-102264304-G-C TARS3 c.287C>G p.A96G Missense 1/19 -
14-103342049-T-C TRAF3 c.386T>C p.M129T Missense 5/12 -
14-74058832-C-T ACOT4 c.169C>T p.R57C Missense 1/3 -
17-39659913-G-A KRT13 c.560C>T p.A187V Missense 2/8 -
17-4796286-C-T MINK1 c.2324C>T p.P775L Missense 20/32 -
1-173516871-G-C SLC9C2 c.1514C>G p.A505G Missense 13/28 -
8-10469233-A-G RP1L1 c.2375T>C p.L792P Missense 4/4 -
14-64522674-G-C SYNE2 c.9757G>C p.D3253H Missense 49/116 -
14-64491695-T-C SYNE2 c.5906T>C p.M1969T Missense 40/116 -
1-100575933-G-A SASS6 c.776C>T p.A259V Missense 8/17 -
1-225607144-C-T LBR c.461G>A p.S154N Missense 5/14 -
7-102743893-C-T NAPEPLD c.1165G>A p.D389N Missense 5/5 -
11-20805286-G-A NELL1 c.245G>A p.R82Q Missense 3/20 -
2-219678877-C-T CYP27A1 c.1151C>T p.P384L Missense 6/9 -
2-85554080-G-A TGOLN2 c.775C>T p.R259W Missense 2/4 -
22-29885204-G-C NEFH c.1575G>C p.K525N Missense 4/4 -
22-29885204-G-T NEFH c.1575G>T p.K525N Missense 4/4 -
22-29881797-A-C NEFH c.1169A>C p.N390T Missense 3/4 -
6-39859484-A-C DAAM2 c.2327A>C p.K776T Missense 19/25 -
17-7366619-T-C ZBTB4 c.1682A>G p.N561S Missense 4/4 -
16-2122886-G-A TSC2 c.2257G>A p.A753T Missense 21/42 -
1-158654938-A-G SPTA1 c.224T>C p.I75T Missense 2/52 -
1-118166385-G-A TENT5C c.895G>A p.E299K Missense 2/2 -
12-60173357-C-G SLC16A7 c.1334C>G p.T445S Missense 6/6 -
12-60173356-A-T SLC16A7 c.1333A>T p.T445S Missense 6/6 -
12-113589799-G-A CFAP73 c.133G>A p.A45T Missense 2/8 -
12-123344021-G-A HIP1R c.2344G>A p.V782M Missense 23/32 -
17-80863857-T-C TBCD c.1850T>C p.M617T Missense 20/39 -
18-33718326-A-C ELP2 c.382A>C p.T128P Missense 4/22 -
19-17316782-T-C MYO9B c.5078T>C p.V1693A Missense 32/40 -
20-56189985-C-G ZBP1 c.460G>C p.D154H Missense 4/8 -
21-44324365-G-A NDUFV3 c.1243G>A p.D415N Missense 3/4 -
10-87484382-C-T GRID1 c.1585G>A p.V529I Missense 11/16 -
12-117705934-T-A NOS1 c.1855A>T p.M619L Missense 11/29 -
16-1997004-C-T RPL3L c.784G>A p.V262M Missense 6/10 -
16-11374994-C-A PRM1 c.102G>T p.R34S Missense 1/2 -
3-49689210-G-A BSN c.2221G>A p.A741T Missense 5/12 -
2-84670490-C-T SUCLG1 c.236G>A p.G79D Missense 3/9 -
7-44104839-C-T PGAM2 c.290G>A p.G97D Missense 1/3 -
10-70645376-A-T STOX1 c.1824A>T p.E608D Missense 3/4 -
11-5255582-C-A HBD c.82G>T p.A28S Missense 1/3 -
11-73717247-C-T UCP3 c.304G>A p.V102I Missense 3/7 -
X-19375782-A-C PDHA1 c.844A>C p.M282L Missense 9/11 -
14-74539060-T-C ALDH6A1 c.194A>G p.N65S Missense 4/12 -
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 -
4-108948850-C-A HADH c.643C>A p.P215T Missense 6/8 -
5-132100013-G-A SEPTIN8 c.250C>T p.R84W Missense 3/10 -
12-109639483-G-A ACACB c.2890G>A p.D964N Missense 19/53 -
19-39220016-G-A ACTN4 c.2680G>A p.G894S Missense 21/21 -
1-200870222-G-A C1orf106 c.455G>A p.R152H Missense 5/10 -
12-52981512-G-A KRT72 c.1213C>T p.R405W Missense 7/9 -
12-53242579-C-T KRT78 c.136G>A p.G46R Missense 1/9 -
12-53242579-C-G KRT78 c.136G>C p.G46R Missense 1/9 -
12-106460938-G-C NUAK1 c.1628C>G p.P543R Missense 7/7 -
16-460358-G-C DECR2 c.453G>C p.K151N Missense 5/9 -
16-460358-G-T DECR2 c.453G>T p.K151N Missense 5/9 -
17-8644854-C-T CCDC42 c.430G>A p.A144T Missense 4/7 -
17-37316988-T-C ARL5C c.347A>G p.Q116R Missense 5/6 -
17-79954544-T-A ASPSCR1 c.755T>A p.L252Q Missense 7/16 -
18-6980523-T-C LAMA1 c.6004A>G p.K2002E Missense 42/63 -
19-12876964-G-T HOOK2 c.1464C>A p.H488Q Missense 15/23 -
19-12876964-G-C HOOK2 c.1464C>G p.H488Q Missense 15/23 -
20-25259006-G-T PYGB c.907G>T p.A303S Missense 8/20 -
20-25262769-G-A PYGB c.1504G>A p.D502N Missense 12/20 -
21-47850484-G-T PCNT c.7977G>T p.Q2659H Missense 37/47 -
21-47850484-G-C PCNT c.7977G>C p.Q2659H Missense 37/47 -
22-25424579-C-A KIAA1671 c.613C>A p.P205T Missense 3/13 -
11-75378674-A-C MAP6 c.741T>G p.I247M Missense 1/4 -
6-43403496-C-T ABCC10 c.1616C>T p.T539M Missense 5/22 -
12-39973395-C-T ABCD2 c.1819G>A p.D607N Missense 8/10 -
10-114177616-G-A ACSL5 c.1231G>A p.G411R Missense 14/21 -
5-56778305-A-G ACTBL2 c.230T>C p.V77A Missense 1/1 -
9-111625629-C-G ACTL7A c.1027C>G p.L343V Missense 1/1 -
6-25605091-G-A CARMIL1 c.3604G>A p.G1202S Missense 34/37 -
11-117711076-C-T FXYD6 c.217G>A p.G73R Missense 6/8 -
12-49390677-T-C DDN c.1982A>G p.E661G Missense 2/2 -
17-79093822-A-G AATK c.3797T>C p.F1266S Missense 12/14 -
11-117711076-C-G FXYD6 c.217G>C p.G73R Missense 6/8 -
9-135786904-A-G TSC1 c.965T>C p.M322T Missense 10/23 -
1-40775937-G-A COL9A2 c.737C>T p.T246M Missense 14/32 -
2-209108317-C-T IDH1 c.532G>A p.V178I Missense 6/10 -
6-117086378-C-A FAM162B c.213G>T p.Q71H Missense 2/4 -
6-117086378-C-G FAM162B c.213G>C p.Q71H Missense 2/4 -
16-88782050-G-A PIEZO1 c.7529C>T p.P2510L Missense 51/51 -
3-12881028-C-T RPL32 c.98G>A p.R33H Missense 3/4 -
4-72622601-T-C GC c.862A>G p.N288D Missense 8/13 -
2-21232044-C-T APOB c.7696G>A p.E2566K Missense 26/29 -
4-95496882-C-T PDLIM5 c.407C>T p.S136F Missense 5/13 -
10-106027059-G-A GSTO1 c.622G>A p.E208K Missense 6/6 -
1-115466098-C-G SYCP1 c.1747C>G p.L583V Missense 21/32 -
17-2203167-T-G SMG6 c.880A>C p.K294Q Missense 2/19 -
3-123457893-G-A MYLK c.439C>T p.P147S Missense 7/34 -
3-180377529-G-C CCDC39 c.545C>G p.T182S Missense 5/20 -
19-11537603-G-A CCDC151 c.614C>T p.T205I Missense 5/13 -
6-71298323-C-T SDHAF4 c.223C>T p.P75S Missense 3/3 -
12-109283278-C-T DAO c.343C>T p.R115W Missense 4/11 -
1-12032953-G-A PLOD1 c.1927G>A p.V643I Missense 18/19 -
10-127496038-T-A UROS c.338A>T p.D113V Missense 6/10 -
16-11374994-C-G PRM1 c.102G>C p.R34S Missense 1/2 -
17-27208326-C-T FLOT2 c.982G>A p.A328T Missense 9/11 -
17-4720469-C-T PLD2 c.1730C>T p.T577I Missense 17/25 -
1-16351275-A-G CLCNKA c.247A>G p.R83G Missense 4/20 -
3-135721781-C-G PPP2R3A c.1441C>G p.P481A Missense 2/14 -
1-185976370-A-G HMCN1 c.4586A>G p.N1529S Missense 30/107 -
X-153587375-T-C FLNA c.4451A>G p.Q1484R Missense 26/48 -
19-10742166-C-T SLC44A2 c.457C>T p.L153F Missense 7/22 -
3-45134822-T-C CDCP1 c.1574A>G p.Q525R Missense 6/9 -
19-51361472-C-A KLK3 c.394C>A p.L132I Missense 3/5 -
1-47282755-G-C CYP4B1 c.1109G>C p.C370S Missense 9/12 -
9-101056122-T-C GABBR2 c.2605A>G p.T869A Missense 18/19 -
10-61831984-G-T ANK3 c.8655C>A p.H2885Q Missense 37/44 -
2-211060050-T-G ACADL c.997A>C p.K333Q Missense 9/11 -
6-52767205-T-G GSTA3 c.211A>C p.I71L Missense 4/7 -
1-110231746-A-G GSTM1 c.254A>G p.N85S Missense 4/8 -
1-110257647-T-C GSTM5 c.439T>C p.W147R Missense 6/8 -
2-198351804-C-G HSPD1 c.1688G>C p.G563A Missense 12/12 -
17-1782952-A-G RPA1 c.1051A>G p.T351A Missense 11/17 -
2-100055506-A-G REV1 c.770T>C p.F257S Missense 6/23 -
22-50728062-T-C PLXNB2 c.952A>G p.K318E Missense 3/37 -
13-99083321-C-T FARP1 c.1930C>T p.H644Y Missense 18/27 -
7-134618710-A-G CALD1 c.1190A>G p.H397R Missense 5/15 -
2-169824983-T-C ABCB11 c.2029A>G p.M677V Missense 17/28 -
21-45107562-T-C RRP1B c.1307T>C p.L436P Missense 13/16 -
6-94120639-T-C EPHA7 c.412A>G p.I138V Missense 3/17 -
4-114294537-G-A ANK2 c.11791G>A p.E3931K Missense 45/46 -
16-89613123-A-G SPG7 c.1507A>G p.T503A Missense 11/17 -
3-46009487-G-A FYCO1 c.1339C>T p.R447C Missense 8/18 -
16-4431360-G-A VASN c.482G>A p.R161Q Missense 2/2 -
14-105850798-C-T PACS2 c.1889C>T p.A630V Missense 17/25 -
2-136537941-C-A UBXN4 c.1374C>A p.S458R Missense 12/13 -
2-136537941-C-G UBXN4 c.1374C>G p.S458R Missense 12/13 -
11-124793682-T-C HEPACAM c.652A>G p.M218V Missense 3/7 -
2-160112881-G-T WDSUB1 c.958C>A p.R320S Missense 9/11 -
12-122326812-T-C PSMD9 c.50T>C p.V17A Missense 1/6 -
5-89703641-C-G CETN3 c.28G>C p.V10L Missense 2/5 -
1-236702210-A-G LGALS8 c.166A>G p.M56V Missense 4/10 -
16-89628073-G-A RPL13 c.334G>A p.A112T Missense 4/6 -
16-3724465-G-C TRAP1 c.919C>G p.R307G Missense 9/18 -
20-5903323-G-A CHGB c.533G>A p.R178Q Missense 4/5 -
7-134889141-G-A WDR91 c.770C>T p.P257L Missense 6/15 -
1-15909850-C-G AGMAT c.313G>C p.G105R Missense 2/7 -
7-6449496-T-C DAGLB c.1991A>G p.Q664R Missense 15/15 -
20-61512606-T-C DIDO1 c.4702A>G p.T1568A Missense 16/16 -
6-30548210-A-G ABCF1 c.592A>G p.N198D Missense 8/25 -
17-66267650-T-G SLC16A6 c.651A>C p.E217D Missense 5/6 -
17-66267650-T-A SLC16A6 c.651A>T p.E217D Missense 5/6 -
11-67250676-G-A AIP c.47G>A p.R16H Missense 1/6 -
1-237730059-C-T RYR2 c.3407C>T p.A1136V Missense 28/105 -
4-164246489-T-G NPY1R c.1121A>C p.K374T Missense 3/3 -
12-122018756-C-T KDM2B c.61G>A p.A21T Missense 1/23 -
17-64738819-A-G PRKCA c.1465A>G p.M489V Missense 13/17 -
4-6304133-G-A WFS1 c.2611G>A p.V871M Missense 8/8 -
15-33446311-G-C FMN1 c.805C>G p.P269A Missense 4/21 -
18-72234625-C-T CNDP1 c.713C>T p.A238V Missense 6/12 -
4-114279628-T-C ANK2 c.9854T>C p.I3285T Missense 38/46 -
X-135292164-G-A FHL1 c.871G>A p.D291N Missense 6/6 -
2-179839888-G-A CCDC141 c.422C>T p.A141V Missense 4/24 -
9-136302010-C-T ADAMTS13 c.1370C>T p.P457L Missense 12/29 -
2-99992822-A-C EIF5B c.1565A>C p.K522T Missense 10/24 -
11-117267884-A-G CEP164 c.3356A>G p.Q1119R Missense 27/33 -
7-149152906-G-A ZNF777 c.208C>T p.R70W Missense 2/6 -
20-55088404-A-G RTF2 c.511A>G p.M171V Missense 6/9 -
11-47306628-G-A MADD c.2294G>A p.R765Q Missense 13/36 -
8-131124559-T-C ASAP1 c.2182A>G p.I728V Missense 24/30 -
2-179558366-T-C TTN c.31564A>G p.I10522V Missense 119/363 -
2-179579093-T-C TTN c.26408A>G p.N8803S Missense 91/363 -
3-58395863-A-G PXK c.1442A>G p.K481R Missense 16/18 -
17-48629458-A-G SPATA20 c.1874A>G p.K625R Missense 14/17 -
13-42465713-C-T VWA8 c.494G>A p.R165H Missense 5/45 -
22-50319079-T-G CRELD2 c.883T>G p.S295A Missense 9/10 -
12-7022085-T-A LRRC23 c.950T>A p.V317E Missense 7/8 -
16-1822642-C-A MRPS34 c.327G>T p.L109F Missense 2/3 -
16-1822642-C-G MRPS34 c.327G>C p.L109F Missense 2/3 -
19-40978640-G-A SPTBN4 c.112G>A p.A38T Missense 2/36 -
19-15587185-C-T PGLYRP2 c.296G>A p.R99Q Missense 2/5 -
5-33998883-A-G AMACR c.602T>C p.L201S Missense 4/5 -
18-9117867-T-C NDUFV2 c.86T>C p.V29A Missense 2/8 -
16-840378-A-G CHTF18 c.731A>G p.K244R Missense 6/22 -
11-82996988-A-G CCDC90B c.28T>C p.F10L Missense 1/9 -
11-82996986-A-T CCDC90B c.30T>A p.F10L Missense 1/9 -
11-82996986-A-C CCDC90B c.30T>G p.F10L Missense 1/9 -
8-144671956-G-A EEF1D c.296C>T p.A99V Missense 3/10 -
16-420140-G-A MRPL28 c.79C>T p.H27Y Missense 2/6 -
9-100823135-G-C NANS c.204G>C p.E68D Missense 2/6 -
9-100823135-G-T NANS c.204G>T p.E68D Missense 2/6 -
19-4859937-T-C PLIN3 c.166A>G p.I56V Missense 3/8 -
7-107593989-T-C LAMB1 c.3065A>G p.Q1022R Missense 22/34 -
11-34969112-A-G PDHX c.301A>G p.T101A Missense 3/11 -
17-4856580-T-C ENO3 c.254T>C p.V85A Missense 5/12 -
17-4856376-A-G ENO3 c.212A>G p.N71S Missense 4/12 -
6-126278230-G-C HINT3 c.107G>C p.G36A Missense 1/5 -
6-41900406-C-T BYSL c.1276C>T p.P426S Missense 7/7 -
2-37456032-C-T CEBPZ c.304G>A p.V102I Missense 2/16 -
8-22428658-T-C SORBS3 c.1667T>C p.I556T Missense 18/21 -
7-138740037-G-C ZC3HAV1 c.2101C>G p.Q701E Missense 10/13 -
20-7963041-C-T TMX4 c.907G>A p.G303R Missense 8/8 -
16-3721773-G-T TRAP1 c.1185C>A p.D395E Missense 11/18 -
14-68249499-C-T ZFYVE26 c.4370G>A p.C1457Y Missense 21/42 -
20-60901986-G-A LAMA5 c.5149C>T p.H1717Y Missense 39/80 -
20-60899206-C-T LAMA5 c.5698G>A p.V1900M Missense 43/80 -
20-60902389-G-A LAMA5 c.5012C>T p.T1671M Missense 38/80 -
19-48954421-G-A GRWD1 c.956G>A p.R319Q Missense 6/7 -
6-151674326-A-T AKAP12 c.4800A>T p.E1600D Missense 4/5 -
6-151669875-A-G AKAP12 c.349A>G p.K117E Missense 4/5 -
6-151672185-A-T AKAP12 c.2659A>T p.S887C Missense 4/5 -
6-151670172-A-C AKAP12 c.646A>C p.K216Q Missense 4/5 -
18-33725931-G-A ELP2 c.913G>A p.V305M Missense 10/22 -
13-46103935-A-G COG3 c.2240A>G p.N747S Missense 21/23 -
12-101702045-G-A UTP20 c.2078G>A p.R693K Missense 18/62 -
15-67528374-T-G AAGAB c.394A>C p.I132L Missense 4/10 -
15-63433766-G-A LACTB c.1406G>A p.R469K Missense 6/6 -
16-1545448-A-G TELO2 c.437A>G p.Q146R Missense 3/21 -
10-12143105-C-G DHTKD1 c.1821C>G p.I607M Missense 10/17 -
2-85622059-T-C CAPG c.1004A>G p.H335R Missense 10/10 -
2-183622547-T-A DNAJC10 c.1938T>A p.H646Q Missense 19/24 -
2-183622547-T-G DNAJC10 c.1938T>G p.H646Q Missense 19/24 -
2-183584755-G-A DNAJC10 c.226G>A p.D76N Missense 4/24 -
1-236208773-C-T NID1 c.736G>A p.V246I Missense 3/20 -
4-42020142-A-G SLC30A9 c.289A>G p.T97A Missense 3/18 -
19-731144-A-G PALM c.319A>G p.T107A Missense 5/9 -
9-117848394-T-C TNC c.1616A>G p.Q539R Missense 3/28 -
11-6239344-G-A FHIP1B c.1472C>T p.T491M Missense 9/12 -
13-60566644-T-C DIAPH3 c.1088A>G p.N363S Missense 10/28 -
16-65025718-G-A CDH11 c.764C>T p.T255M Missense 6/13 -
17-79173184-T-C CEP131 c.1189A>G p.T397A Missense 10/26 -
19-7992976-T-C TIMM44 c.1114A>G p.I372V Missense 11/13 -
1-226923505-G-T ITPKB c.1655C>A p.P552Q Missense 2/8 -
5-52096889-C-A PELO c.661C>A p.L221M Missense 2/3 -
6-79708000-A-C PHIP c.1988T>G p.V663G Missense 18/40 -
11-117222592-G-A CEP164 c.281G>A p.S94N Missense 5/33 -
17-45904420-C-T MRPL10 c.373G>A p.V125I Missense 3/5 -
1-151374025-T-C PSMB4 c.701T>C p.I234T Missense 6/7 -
21-46387078-G-T SLX9 c.482G>T p.S161I Missense 4/6 -
4-175225452-G-A CEP44 c.439G>A p.G147S Missense 6/12 -
11-74053547-C-T PGM2L1 c.1591G>A p.V531I Missense 12/14 -
11-7687715-T-C CYB5R2 c.625A>G p.N209D Missense 8/9 -
9-130242166-A-G LRSAM1 c.952A>G p.N318D Missense 14/26 -
17-76060875-C-G TNRC6C c.2459C>G p.P820R Missense 5/22 -
17-76060866-C-G TNRC6C c.2450C>G p.P817R Missense 5/22 -
2-20824498-C-T HS1BP3 c.778G>A p.V260M Missense 5/7 -
15-83680287-A-G C15orf40 c.73T>C p.C25R Missense 1/4 -
7-38807165-C-T VPS41 c.1219G>A p.E407K Missense 15/29 -
1-236706862-G-C LGALS8 c.552G>C p.R184S Missense 8/10 -
1-236706862-G-T LGALS8 c.552G>T p.R184S Missense 8/10 -
19-51856469-G-A ETFB c.292C>T p.R98C Missense 3/6 -
14-69704553-G-T EXD2 c.1554G>T p.Q518H Missense 9/10 -
14-69704553-G-C EXD2 c.1554G>C p.Q518H Missense 9/10 -
5-89769728-T-C MBLAC2 c.382A>G p.T128A Missense 1/2 -
13-41323397-C-T MRPS31 c.835G>A p.D279N Missense 6/7 -
9-35712003-G-A TLN1 c.3680C>T p.S1227L Missense 28/57 -
19-7747293-T-G TRAPPC5 c.154T>G p.S52A Missense 2/2 -
14-75230953-C-T YLPM1 c.761C>T p.P254L Missense 1/21 -
19-17837512-G-A MAP1S c.1319G>A p.C440Y Missense 5/7 -
3-16419309-C-T RFTN1 c.742G>A p.E248K Missense 5/10 -
10-51827934-G-A WASHC2A c.73G>A p.V25M Missense 2/31 -
2-174946760-T-C OLA1 c.761A>G p.Y254C Missense 8/11 -
1-222802376-A-G MIA3 c.1814A>G p.K605R Missense 4/28 -
1-222803204-A-G MIA3 c.2642A>G p.E881G Missense 4/28 -
13-31891746-G-A B3GLCT c.1108G>A p.E370K Missense 13/15 -
16-84522897-G-C MEAK7 c.516C>G p.D172E Missense 4/8 -
22-44379838-A-G SAMM50 c.1033A>G p.I345V Missense 12/15 -
5-179290845-T-G TBC1D9B c.3305A>C p.K1102T Missense 21/21 -
2-178417142-C-T TTC30B c.350G>A p.R117H Missense 1/1 -
19-34868776-T-C GPI c.623T>C p.I208T Missense 6/18 -
1-114948281-A-G TRIM33 c.2519T>C p.I840T Missense 15/20 -
2-191161622-T-C HIBCH c.136A>G p.T46A Missense 3/14 -
14-96781912-T-C ATG2B c.3370A>G p.N1124D Missense 22/42 -
19-50154904-A-C SCAF1 c.1258A>C p.T420P Missense 7/11 -
17-33288882-T-A ZNF830 c.297T>A p.H99Q Missense 1/1 -
17-33288882-T-G ZNF830 c.297T>G p.H99Q Missense 1/1 -
15-86123988-G-A AKAP13 c.2689G>A p.V897M Missense 7/37 -
15-86124946-T-C AKAP13 c.3647T>C p.M1216T Missense 7/37 -
1-228362682-G-A IBA57 c.631G>A p.G211S Missense 2/3 -
1-213031948-G-C FLVCR1 c.154G>C p.A52P Missense 1/10 -
1-186321242-C-T TPR c.2335G>A p.V779I Missense 19/51 -
1-89522646-G-C GBP1 c.1046C>G p.T349S Missense 7/11 -
1-89522647-T-A GBP1 c.1045A>T p.T349S Missense 7/11 -
6-33756532-G-A LEMD2 c.362C>T p.A121V Missense 1/9 -
1-6705944-C-T DNAJC11 c.799G>A p.V267M Missense 8/16 -
1-27210721-T-C GPN2 c.790A>G p.R264G Missense 4/5 -
9-104152846-G-A MRPL50 c.379C>T p.L127F Missense 2/2 -
1-19565344-C-G EMC1 c.1034G>C p.S345T Missense 10/23 -
1-19413261-T-G UBR4 c.14599A>C p.M4867L Missense 100/106 -
1-19413261-T-A UBR4 c.14599A>T p.M4867L Missense 100/106 -
9-71843023-C-A TJP2 c.1446C>A p.D482E Missense 9/23 -
11-62291953-A-C AHNAK c.9936T>G p.D3312E Missense 5/5 -
11-62291953-A-T AHNAK c.9936T>A p.D3312E Missense 5/5 -
16-12758966-T-C CPPED1 c.722A>G p.K241R Missense 4/4 -
13-25008630-A-G PARP4 c.4649T>C p.L1550P Missense 31/34 -
13-25000617-C-G PARP4 c.4966G>C p.A1656P Missense 33/34 -
13-25020863-G-A PARP4 c.3322C>T p.R1108C Missense 27/34 -
2-30863108-A-G LCLAT1 c.754A>G p.I252V Missense 6/6 -
9-114359624-C-A PTGR1 c.79G>T p.A27S Missense 2/10 -
1-117487711-T-A PTGFRN c.829T>A p.S277T Missense 3/9 -
11-34910397-C-T APIP c.227G>A p.C76Y Missense 4/7 -
12-93181768-C-A EEA1 c.3025G>T p.A1009S Missense 22/29 -
17-18221010-A-G SMCR8 c.1907A>G p.N636S Missense 1/2 -
2-173339808-G-A ITGA6 c.1138G>A p.A380T Missense 7/26 -
11-20404613-T-G HTATIP2 c.591T>G p.S197R Missense 5/5 -
11-20404613-T-A HTATIP2 c.591T>A p.S197R Missense 5/5 -
11-20404611-A-C HTATIP2 c.589A>C p.S197R Missense 5/5 -
19-12772090-C-T MAN2B1 c.1010G>A p.R337Q Missense 7/24 -
2-118743630-G-A CCDC93 c.535C>T p.R179C Missense 7/24 -
3-128976451-C-G COPG1 c.718C>G p.L240V Missense 9/24 -
11-48166267-G-C PTPRJ c.2616G>C p.E872D Missense 13/25 -
3-140178485-G-A CLSTN2 c.1096G>A p.V366I Missense 7/17 -
17-33269648-C-G CCT6B c.740G>C p.G247A Missense 7/14 -
12-105546172-G-A WASHC4 c.2701G>A p.V901I Missense 26/33 -
19-19136541-C-T SUGP2 c.616G>A p.G206S Missense 3/11 -
3-158366900-G-A GFM1 c.643G>A p.V215I Missense 5/18 -
6-4031998-A-G PRPF4B c.247A>G p.I83V Missense 2/15 -
6-3010390-C-T NQO2 c.139C>T p.L47F Missense 3/7 -
11-18102014-G-A SAAL1 c.1357C>T p.R453C Missense 12/12 -
19-622336-T-G POLRMT c.1664A>C p.E555A Missense 9/21 -
22-41736090-G-A ZC3H7B c.1087G>A p.D363N Missense 10/23 -
1-36752433-C-T THRAP3 c.602C>T p.A201V Missense 4/12 -
7-44444122-G-A NUDCD3 c.703C>T p.R235C Missense 4/6 -
9-21816758-G-A MTAP c.166G>A p.V56I Missense 3/8 -
12-88440676-G-T C12orf29 c.712G>T p.V238L Missense 6/7 -
21-47777063-G-A PCNT c.2111G>A p.G704E Missense 13/47 -
17-66246416-A-G AMZ2 c.88A>G p.N30D Missense 2/7 -
17-8402755-T-C MYH10 c.3784A>G p.T1262A Missense 30/43 -
17-41133071-T-A RUNDC1 c.478T>A p.W160R Missense 1/5 -
17-41133071-T-C RUNDC1 c.478T>C p.W160R Missense 1/5 -
1-156641537-C-T NES c.2443G>A p.V815I Missense 4/4 -
6-126210395-T-G NCOA7 c.1195T>G p.S399A Missense 9/16 -
1-151733335-T-G MRPL9 c.629A>C p.E210A Missense 6/7 -
6-45916999-G-T CLIC5 c.293C>A p.P98H Missense 3/6 -
9-111659483-T-G ELP1 c.2446A>C p.I816L Missense 23/37 -
9-111659483-T-A ELP1 c.2446A>T p.I816L Missense 23/37 -
2-233537125-A-G EFHD1 c.557A>G p.K186R Missense 3/4 -
11-62439569-G-A UQCC3 c.265G>A p.G89S Missense 2/2 -
13-47354101-C-T ESD c.569G>A p.G190E Missense 8/10 -
15-90784930-C-A GDPGP1 c.790C>A p.P264T Missense 4/4 -
15-90784250-T-C GDPGP1 c.110T>C p.M37T Missense 4/4 -
4-10099340-T-C WDR1 c.553A>G p.I185V Missense 5/15 -
18-61160287-T-C SERPINB5 c.526T>C p.S176P Missense 5/7 -
8-38095662-C-T DDHD2 c.557C>T p.T186M Missense 5/18 -
14-21551069-T-C ARHGEF40 c.3566T>C p.L1189S Missense 16/24 -
14-21549893-G-T ARHGEF40 c.2866G>T p.V956L Missense 14/24 -
2-61575308-A-G USP34 c.1982T>C p.M661T Missense 15/80 -
22-19929227-C-A TXNRD2 c.100G>T p.A34S Missense 1/18 -
2-69736561-A-G AAK1 c.1808T>C p.V603A Missense 14/22 -
2-55912120-T-C PNPT1 c.361A>G p.I121V Missense 4/28 -
16-23536684-T-C EARS2 c.1369A>G p.S457G Missense 8/9 -
8-145001654-CT-TG PLEC c.3679_3680delAGinsCA p.R1227Q Missense 27/32 -
19-46141845-T-C EML2 c.97A>G p.M33V Missense 3/19 -
3-183861243-A-G EIF2B5 c.1759A>G p.I587V Missense 13/16 -
9-8486142-A-G PTPRD c.2675T>C p.V892A Missense 28/46 -
10-131557525-A-G MGMT c.427A>G p.I112V Missense 4/5 -
10-105762591-G-A SLK c.1655G>A p.C552Y Missense 9/19 -
22-29196469-G-A XBP1 c.44C>T p.P15L Missense 1/5 -
6-29910663-G-A HLA-A c.203G>A p.R68K Missense 2/8 -
6-29911203-A-C HLA-A c.502A>C p.K168Q Missense 3/8 -
6-29911272-T-G HLA-A c.571T>G p.W191G Missense 3/8 -
6-29912856-A-T HLA-A c.1033A>T p.T345S Missense 6/8 -
6-31239090-G-C HLA-C c.379C>G p.L127V Missense 3/8 -
1-236413230-T-A ERO1B c.386A>T p.D129V Missense 5/16 -
6-31239417-C-T HLA-C c.302G>A p.S101N Missense 2/8 -
6-31322303-C-G HLA-B c.1046G>C p.C349S Missense 7/8 -
6-31324064-T-A HLA-B c.499A>T p.T167S Missense 3/8 -
6-31324516-C-A HLA-B c.292G>T p.D98Y Missense 2/8 -
6-32632659-C-T HLA-DQB1 c.295G>A p.V99I Missense 2/5 -
6-33036999-T-C HLA-DPA1 c.425A>G p.K142R Missense 3/5 -
6-33048640-A-G HLA-DPB1 c.292A>G p.K98E Missense 2/6 -
6-33048689-G-A HLA-DPB1 c.341G>A p.G114E Missense 2/6 -
1-175375469-C-A TNR c.382G>T p.A128S Missense 3/23 -
22-43579049-T-C TTLL12 c.284A>G p.N95S Missense 2/14 -
3-105260520-C-T ALCAM c.902C>T p.T301M Missense 8/16 -
9-124081138-G-A GSN c.1171G>A p.D391N Missense 10/18 -
4-114275049-G-A ANK2 c.5275G>A p.E1759K Missense 38/46 -
2-190924861-A-G MSTN c.674T>C p.I225T Missense 2/3 -
16-68344696-C-T SLC7A6OS c.134G>A p.G45D Missense 1/5 -
3-193334991-G-A OPA1 c.473G>A p.S158N Missense 4/31 -
1-64095165-A-G PGM1 c.316A>G p.I106V Missense 2/11 -
1-64095111-A-G PGM1 c.262A>G p.I88V Missense 2/11 -
1-205180578-C-T DSTYK c.86G>A p.R29Q Missense 1/13 -
2-240951071-C-T NDUFA10 c.712G>A p.E238K Missense 6/10 -
16-21982936-G-A UQCRC2 c.761G>A p.R254H Missense 9/14 -
5-134076812-G-A CAMLG c.232G>A p.V78I Missense 2/4 -
6-138202173-G-A TNFAIP3 c.2090G>A p.R697K Missense 9/9 -
3-46592987-A-G LRRC2 c.95T>C p.V32A Missense 2/9 -
9-134334588-A-G PRRC2B c.1249A>G p.M417V Missense 11/32 -
12-32908705-G-T YARS2 c.104C>A p.A35D Missense 1/5 -
16-24788645-T-A TNRC6A c.555T>A p.N185K Missense 5/25 -
11-63767166-C-T MACROD1 c.734G>A p.S245N Missense 6/11 -
17-26099450-G-C NOS2 c.1588C>G p.R530G Missense 14/27 -
15-41195121-G-A VPS18 c.2504G>A p.R835Q Missense 5/5 -
2-21229446-G-C APOB c.10294C>G p.Q3432E Missense 26/29 -
10-81111337-C-T PPIF c.410C>T p.P137L Missense 4/6 -
15-85525556-C-G PDE8A c.163C>G p.L55V Missense 1/22 -
14-88442712-C-T GALC c.742G>A p.D248N Missense 7/17 -
1-22150120-C-T LDLRAD2 c.*1412C>T - 3-UTRSNV 5/5 -
22-46724731-C-G GTSE1 c.1871C>G p.A624G Missense 10/12 -
6-116943975-G-A RSPH4A c.731G>A p.R244H Missense 2/6 -
11-8159884-C-G RIC3 c.362G>C p.G121A Missense 3/6 -
5-140168151-G-T PCDHA1 c.2276G>T p.C759F Missense 1/4 -
X-50659009-T-C BMP15 c.581T>C p.F194S Missense 2/2 -
7-102952123-G-C PMPCB c.1188G>C p.E396D Missense 10/13 -
7-102952123-G-T PMPCB c.1188G>T p.E396D Missense 10/13 -
5-33448792-C-A TARS1 c.284C>A p.A95E Missense 3/19 -
19-33878837-G-A PEPD c.1303C>T p.L435F Missense 14/15 -
9-140127051-G-A SLC34A3 c.200G>A p.R67H Missense 4/13 -
7-82582846-C-T PCLO c.7423G>A p.V2475I Missense 5/25 -
10-88722398-A-T SNCG c.329A>T p.E110V Missense 4/5 -
19-56369189-G-A NLRP4 c.430G>A p.A144T Missense 3/10 -
11-764414-A-G TALDO1 c.962A>G p.K321R Missense 7/8 -
18-6986227-G-A LAMA1 c.5288C>T p.A1763V Missense 37/63 -
5-78135241-C-T ARSB c.1151G>A p.S384N Missense 6/8 -
9-139990813-C-T MAN1B1 c.590C>T p.P197L Missense 4/13 -
18-21112206-C-T NPC1 c.3797G>A p.R1266Q Missense 25/25 -
7-12263971-G-A TMEM106B c.401G>A p.S134N Missense 4/8 -
1-22181895-C-T HSPG2 c.5899G>A p.V1967I Missense 47/97 -
6-24596478-T-G KIAA0319 c.424A>C p.T142P Missense 3/21 -
6-107088231-C-T QRSL1 c.32C>T p.A11V Missense 2/11 -
3-180377530-T-A CCDC39 c.544A>T p.T182S Missense 5/20 -
2-166868749-G-A SCN1A c.3749C>T p.T1250M Missense 22/29 -
1-38411444-C-T INPP5B c.136G>A p.G46S Missense 3/24 -
11-7509566-A-T OLFML1 c.338A>T p.E113V Missense 2/3 -
11-103026168-C-A DYNC2H1 c.3682C>A p.L1228I Missense 25/89 -
19-8326944-G-A CERS4 c.1136G>A p.R379Q Missense 12/12 -
1-153431406-C-G S100A7 c.84G>C p.E28D Missense 2/3 -
2-54135936-T-C PSME4 c.2614A>G p.I872V Missense 22/47 -
7-29070209-G-A CPVL c.1304C>T p.A435V Missense 12/13 -
14-94750486-T-C SERPINA10 c.1151A>G p.Q384R Missense 5/5 -
16-3716025-A-T TRAP1 c.1330T>A p.Y444N Missense 12/18 -
18-72244208-G-A CNDP1 c.946G>A p.D316N Missense 8/12 -
4-56319244-G-T CLOCK c.1183C>A p.L395I Missense 15/23 -
3-184070588-C-G CLCN2 c.2154G>C p.E718D Missense 19/24 -
3-184070588-C-A CLCN2 c.2154G>T p.E718D Missense 19/24 -
19-39322087-T-G ECH1 c.122A>C p.E41A Missense 2/10 -
19-49994740-C-A RPL13A c.461C>A p.A154D Missense 7/8 -
X-151093082-G-A MAGEA4 c.946G>A p.G316R Missense 3/3 -
X-151093082-G-C MAGEA4 c.946G>C p.G316R Missense 3/3 -
13-23904298-T-G SACS c.13717A>C p.N4573H Missense 10/10 -
20-2398064-G-A TGM6 c.1523G>A p.G508D Missense 10/13 -
10-118661351-G-A SHTN1 c.1598C>T p.P533L Missense 16/17 -
19-39218649-G-A ACTN4 c.2401G>A p.V801M Missense 19/21 -
3-180359790-T-C CCDC39 c.1865A>G p.E622G Missense 13/20 -
22-19263214-G-A CLTCL1 c.182C>T p.P61L Missense 2/33 -
18-18564483-G-C ROCK1 c.2318C>G p.T773S Missense 20/33 -
17-5085637-G-A ZNF594 c.1915C>T p.L639F Missense 2/2 -
1-205892259-C-T SLC26A9 c.1724G>A p.R575Q Missense 16/21 -
22-37581383-C-T C1QTNF6 c.164G>A p.G55D Missense 2/3 -
9-71835842-C-A TJP2 c.382C>A p.Q128K Missense 5/23 -
9-71851877-G-A TJP2 c.2004G>A p.M668I Missense 14/23 -
3-63645410-A-G SNTN c.155A>G p.K52R Missense 3/4 -
1-156035717-A-G RAB25 c.59A>G p.E20G Missense 2/5 -
6-36393816-A-G PXT1 c.44T>C p.V15A Missense 3/5 -
12-120954490-C-T COQ5 c.454G>A p.A152T Missense 3/7 -
1-201869257-G-A LMOD1 c.884C>T p.T295M Missense 2/3 -
10-101157438-G-C GOT1 c.1108C>G p.Q370E Missense 9/9 -
8-145729727-C-A GPT c.40C>A p.H14N Missense 1/11 -
6-26452211-C-T BTN3A3 c.1327C>T p.R443W Missense 11/11 -
6-31603189-G-A PRRC2A c.5320G>A p.V1774M Missense 23/31 -
14-52496387-C-A NID2 c.2279G>T p.G760V Missense 10/22 -
2-170072887-G-C LRP2 c.5702C>G p.A1901G Missense 35/79 -
10-5931230-C-T ANKRD16 c.88G>A p.G30R Missense 1/8 -
15-34077949-G-A RYR3 c.9355G>A p.E3119K Missense 66/104 -
19-17749893-G-A UNC13A c.3080C>T p.P1027L Missense 25/44 -
15-45695382-G-A SPATA5L1 c.755G>A p.R252Q Missense 1/8 -
6-36922684-A-C PI16 c.148A>C p.T50P Missense 1/7 -
1-226923938-A-C ITPKB c.1222T>G p.S408A Missense 2/8 -
4-95506837-A-G PDLIM5 c.832A>G p.T278A Missense 6/13 -
12-50727811-C-T FAM186A c.6579G>A p.M2193I Missense 5/8 -
10-70748784-G-A KIFBP c.196G>A p.G66S Missense 1/7 -
13-25823441-C-T MTMR6 c.1795G>A p.A599T Missense 14/14 -
6-31936679-C-T SKIV2L c.3212C>T p.A1071V Missense 26/28 -
10-91065949-A-C IFIT2 c.236A>C p.E79A Missense 2/2 -
22-29885016-G-A NEFH c.1387G>A p.E463K Missense 4/4 -
22-45749966-G-C SMC1B c.3165C>G p.F1055L Missense 21/25 -
3-9986249-A-G CRELD1 c.1249A>G p.I417V Missense 11/11 -
11-102248377-C-T BIRC2 c.1517C>T p.A506V Missense 7/9 -
9-117846580-T-C TNC c.2039A>G p.Q680R Missense 4/28 -
16-78149000-C-T WWOX c.358C>T p.R120W Missense 4/9 -
1-159856388-C-T CFAP45 c.680G>A p.R227Q Missense 6/12 -
15-62243197-T-C VPS13C c.4483A>G p.I1495V Missense 40/85 -
12-121622115-C-T P2RX7 c.1298C>T p.A433V Missense 13/13 -
6-24476431-T-C GPLD1 c.308A>G p.N103S Missense 4/25 -
16-65022234-C-T CDH11 c.825G>A p.M275I Missense 7/13 -
16-1254271-G-A CACNA1H c.2264G>A p.G755D Missense 10/35 -
17-80041173-G-A FASN c.5470C>T p.R1824W Missense 32/43 -
6-30041009-A-G RNF39 c.403T>C p.S135P missense_variant 3/4 -
1-89582690-G-C GBP2 c.853C>G p.P285A Missense 6/11 -
20-1433259-G-A NSFL1C c.664C>T p.L222F Missense 7/9 -
1-22310807-A-G CELA3B c.625A>G p.I209V Missense 6/8 -
3-49462410-T-C NICN1 c.572A>G p.H191R Missense 5/6 -
2-242610172-A-G ATG4B c.989A>G p.N330S Missense 11/13 -
9-90322023-G-A DAPK1 c.4037G>A p.S1346N Missense 26/26 -
19-50713713-C-A MYH14 c.91C>A p.P31T Missense 2/43 -
3-45588912-G-A LARS2 c.2602G>A p.E868K Missense 22/22 -
9-117840255-A-C TNC c.2641T>G p.S881A Missense 7/28 -
16-31286964-T-A ITGAM c.953T>A p.F318Y Missense 9/30 -
4-94750491-C-G ATOH1 c.414C>G p.D138E Missense 1/1 -
4-94750491-C-A ATOH1 c.414C>A p.D138E Missense 1/1 -
18-57000469-T-A LMAN1 c.1228A>T p.M410L Missense 11/13 -
12-52886911-T-C KRT6A c.62A>G p.N21S Missense 1/9 -
4-3526645-C-T LRPAP1 c.338G>A p.R113H Missense 2/8 -
7-12269416-A-T TMEM106B c.553A>T p.T185S Missense 5/8 -
1-75038228-A-C ERICH3 c.3166T>G p.L1056V Missense 14/15 -
5-32263316-C-T MTMR12 c.616G>A p.D206N Missense 7/16 -
2-153405580-C-G FMNL2 c.328C>G p.L110V Missense 4/26 -
4-184612553-G-C TRAPPC11 c.1978G>C p.V660L Missense 19/30 -
6-656555-G-T HUS1B c.390C>A p.H130Q Missense 1/1 -
6-656555-G-C HUS1B c.390C>G p.H130Q Missense 1/1 -
4-85525421-G-C CDS1 c.143G>C p.G48A Missense 2/13 -
8-95143172-T-G CDH17 c.2216A>C p.E739A Missense 16/18 -
9-19058921-G-A HAUS6 c.1844C>T p.A615V Missense 16/17 -
10-35897304-C-T GJD4 c.863C>T p.T288M Missense 2/2 -
X-129546713-G-A RBMX2 c.860G>A p.R287H Missense 6/6 -
2-233498506-C-T EFHD1 c.92C>T p.A31V Missense 1/4 -
7-86468254-G-A GRM3 c.1424G>A p.G475D Missense 4/6 -
1-32145693-C-T COL16A1 c.2620G>A p.G874R Missense 40/71 -
3-65342433-A-C MAGI1 c.4009T>G p.L1337V Missense 23/23 -
3-142402975-T-C PLS1 c.707T>C p.V236A Missense 7/16 -
3-148597612-C-T CPA3 c.512C>T p.T171M Missense 6/11 -
1-33777674-A-C A3GALT2 c.314T>G p.L105R Missense 4/5 -
16-46755060-T-C MYLK3 c.1960A>G p.I654V Missense 9/13 -
17-79671332-T-C MRPL12 c.133T>C p.C45R Missense 2/5 -
22-32914231-C-T SYN3 c.1409G>A p.S470N Missense 13/14 -
19-44117961-C-T SRRM5 c.1688C>T p.P563L Missense 1/1 -
19-22846652-A-C ZNF492 c.181A>C p.N61H Missense 4/4 -
2-166747445-G-C TTC21B c.3004C>G p.L1002V Missense 23/29 -
6-152671448-G-A SYNE1 c.11756C>T p.A3919V Missense 72/146 -
5-73992881-A-G HEXB c.619A>G p.I207V Missense 5/14 -
1-152957832-C-A SPRR1A c.126C>A p.H42Q Missense 2/2 -
1-152957832-C-G SPRR1A c.126C>G p.H42Q Missense 2/2 -
1-152957887-G-A SPRR1A c.181G>A p.V61I Missense 2/2 -
1-153431406-C-A S100A7 c.84G>T p.E28D Missense 2/3 -
1-153926078-T-C CRTC2 c.439A>G p.M147V Missense 5/14 -
1-158612236-A-G SPTA1 c.4702T>C p.C1568R Missense 33/52 -
1-204199614-C-T PLEKHA6 c.2510G>A p.R837K Missense 18/23 -
1-223567803-G-A CCDC185 c.986G>A p.G329D Missense 1/1 -
1-23419374-G-T LUZP1 c.1381C>A p.Q461K Missense 4/5 -
1-23419383-C-T LUZP1 c.1372G>A p.G458S Missense 4/5 -
1-24419496-A-G MYOM3 c.1031T>C p.M344T Missense 10/37 -
1-247752367-A-G OR2G2 c.706A>G p.R236G Missense 1/1 -
1-35260202-G-A GJA4 c.388G>A p.V130I Missense 2/2 -
1-6531589-C-T PLEKHG5 c.1240G>A p.A414T Missense 12/21 -
10-117075175-G-A ATRNL1 c.2966G>A p.S989N Missense 18/29 -
10-30316208-T-C JCAD c.2869A>G p.R957G Missense 3/4 -
10-61831271-T-C ANK3 c.9368A>G p.K3123R Missense 37/44 -
10-7618686-T-G ITIH5 c.1708A>C p.T570P Missense 10/15 -
11-124006993-G-A VWA5A c.1517G>A p.R506K Missense 13/19 -
11-18267027-C-T SAA2 c.266G>A p.R89H Missense 4/4 -
11-5443887-T-C OR51Q1 c.457T>C p.C153R Missense 1/1 -
11-6789929-C-A OR2AG2 c.260G>T p.R87L Missense 2/2 -
11-6807163-C-G OR2AG1 c.895C>G p.R299G Missense 2/2 -
12-122817580-A-G CLIP1 c.2821T>C p.S941P Missense 15/26 -
12-133306589-C-T ANKLE2 c.2159G>A p.R720H Missense 11/13 -
12-32137565-G-A RESF1 c.3676G>A p.V1226I Missense 4/6 -
12-48723324-C-G H1-7 c.250C>G p.R84G Missense 1/1 -
12-52981442-C-A KRT72 c.1283G>T p.R428L Missense 7/9 -
12-58025813-G-C B4GALNT1 c.103C>G p.L35V Missense 2/11 -
13-41382711-A-C SLC25A15 c.760A>C p.I254L Missense 6/7 -
13-41382711-A-T SLC25A15 c.760A>T p.I254L Missense 6/7 -
13-50306528-T-C KPNA3 c.362A>G p.K121R Missense 6/17 -
15-42568547-C-G GANC c.31C>G p.L11V Missense 2/24 -
15-55652719-A-G CCPG1 c.1252T>C p.Y418H Missense 8/9 -
15-57731728-A-G CGNL1 c.1531A>G p.T511A Missense 2/19 -
15-72432583-A-G SENP8 c.619A>G p.T207A Missense 2/2 -
15-90213229-G-C PLIN1 c.580C>G p.P194A Missense 5/9 -
16-12060163-A-G TNFRSF17 c.242A>G p.N81S Missense 2/3 -
16-29791575-C-G ZG16 c.339C>G p.D113E Missense 4/4 -
16-29791575-C-A ZG16 c.339C>A p.D113E Missense 4/4 -
16-4945687-G-T PPL c.1003C>A p.L335M Missense 10/22 -
16-84209738-T-C DNAAF1 c.1898T>C p.L633S Missense 11/12 -
17-10222462-G-A MYH13 c.3383C>T p.A1128V Missense 27/41 -
17-1686410-T-C SMYD4 c.2180A>G p.Y727C Missense 10/11 -
17-21318782-G-A KCNJ12 c.128G>A p.R43H Missense 3/3 -
17-42992542-G-A GFAP c.313C>T p.R105W Missense 1/9 -
19-40368395-C-T FCGBP c.12953G>A p.R4318H Missense 28/36 -
19-53344919-T-G ZNF468 c.628A>C p.M210L Missense 4/4 -
19-53344919-T-A ZNF468 c.628A>T p.M210L Missense 4/4 -
2-103149100-G-A SLC9A4 c.2350G>A p.G784S Missense 12/12 -
2-157406249-G-A GPD2 c.791G>A p.R264H Missense 7/17 -
2-228883721-T-C SPHKAP c.1849A>G p.K617E Missense 7/12 -
2-239039312-C-T ESPNL c.1957C>T p.R653W Missense 9/9 -
2-27167617-G-A DPYSL5 c.1534G>A p.A512T Missense 12/13 -
2-99812070-G-A MRPL30 c.388G>A p.A130T Missense 6/6 -
20-47273726-C-T PREX1 c.1975G>A p.V659M Missense 18/40 -
20-5903517-A-G CHGB c.727A>G p.T243A Missense 4/5 -
20-60887581-G-A LAMA5 c.9235C>T p.R3079W Missense 68/80 -
22-24038847-T-C RGL4 c.1133T>C p.V378A Missense 7/11 -
22-26854441-G-A HPS4 c.1816C>T p.H606Y Missense 12/14 -
22-26862212-T-C HPS4 c.686A>G p.E229G Missense 9/14 -
3-118866376-C-T TEX55 c.1340C>T p.S447L Missense 1/3 -
3-136574501-A-G SLC35G2 c.1199A>G p.K400R Missense 2/2 -
3-145917761-T-C PLSCR4 c.463A>G p.I155V Missense 6/9 -
3-391100-A-G CHL1 c.907A>G p.T303A Missense 10/28 -
3-52554304-G-C STAB1 c.5497G>C p.A1833P Missense 52/69 -
4-186111639-T-C CFAP97 c.712A>G p.T238A Missense 2/5 -
4-186379899-G-C CCDC110 c.1842C>G p.I614M Missense 6/7 -
4-187630597-C-G FAT1 c.385G>C p.V129L Missense 2/27 -
4-187630597-C-A FAT1 c.385G>T p.V129L Missense 2/27 -
4-7716932-T-C SORCS2 c.2146T>C p.S716P Missense 17/27 -
4-87809020-C-G C4orf36 c.247G>C p.V83L Missense 4/5 -
4-87809020-C-A C4orf36 c.247G>T p.V83L Missense 4/5 -
4-90169925-A-G GPRIN3 c.1337T>C p.V446A Missense 2/2 -
5-1467004-A-G LPCAT1 c.1280T>C p.M427T Missense 13/14 -
5-149006640-C-T ARHGEF37 c.1466C>T p.P489L Missense 11/13 -
5-149374932-T-C TIGD6 c.980A>G p.Q327R Missense 2/2 -
13-111213794-A-G RAB20 c.73T>C p.Y25H Missense 1/2 -
1-151735576-T-C MRPL9 c.200A>G p.E67G Missense 2/7 -
1-236141174-T-C NID1 c.3737A>G p.Q1246R Missense 20/20 -
16-15820863-C-T MYH11 c.3700G>A p.A1234T Missense 28/41 -
17-38122686-G-A GSDMA c.388G>A p.E130K Missense 3/12 -
17-6406883-C-T PITPNM3 c.238G>A p.A80T Missense 4/20 -
2-38604351-A-T ATL2 c.52T>A p.W18R Missense 1/13 -
7-129938598-G-T CPA4 c.81G>T p.L27F Missense 2/11 -
7-129938598-G-C CPA4 c.81G>C p.L27F Missense 2/11 -
5-82837631-G-T VCAN c.8809G>T p.D2937Y Missense 8/15 -
6-105776866-A-C PREP c.1051T>G p.L351V Missense 9/15 -
6-34498328-C-T PACSIN1 c.1001C>T p.A334V Missense 8/10 -
6-51483961-T-C PKHD1 c.12143A>G p.Q4048R Missense 67/67 -
6-96651740-A-G FUT9 c.709A>G p.T237A Missense 3/3 -
6-99825348-T-C COQ3 c.400A>G p.K134E Missense 4/7 -
7-102098010-G-A ALKBH4 c.740C>T p.A247V Missense 3/3 -
7-11581121-T-C THSD7A c.1747A>G p.N583D Missense 6/28 -
7-138764233-C-T ZC3HAV1 c.1454G>A p.R485K Missense 4/13 -
7-45122464-A-C NACAD c.3315T>G p.D1105E Missense 2/8 -
7-45122464-A-T NACAD c.3315T>A p.D1105E Missense 2/8 -
7-45124465-A-C NACAD c.1314T>G p.D438E Missense 2/8 -
7-45124465-A-T NACAD c.1314T>A p.D438E Missense 2/8 -
7-51097063-T-G COBL c.1730A>C p.D577A Missense 10/13 -
7-82764425-C-G PCLO c.2441G>C p.S814T Missense 3/25 -
7-89854446-T-G STEAP2 c.50T>G p.F17C Missense 3/6 -
7-91630620-G-C AKAP9 c.1389G>C p.M463I Missense 8/50 -
7-91630620-G-A AKAP9 c.1389G>A p.M463I Missense 8/50 -
7-92734983-A-G SAMD9 c.428T>C p.I143T Missense 3/3 -
8-11995062-G-A USP17L2 c.1208C>T p.A403V Missense 1/1 -
8-133053309-T-C OC90 c.439A>G p.S147G Missense 6/14 -
8-139165289-T-C FAM135B c.1429A>G p.I477V Missense 13/20 -
8-74893821-A-G TMEM70 c.748A>G p.T250A Missense 3/3 -
8-86351997-G-A CA3 c.91G>A p.V31I Missense 2/7 -
8-8860620-T-C ERI1 c.47T>C p.L16P Missense 1/7 -
9-139616742-A-G DIPK1B c.472A>G p.S158G Missense 4/5 -
9-139973820-C-T UAP1L1 c.956C>T p.A319V Missense 5/9 -
9-35870001-T-C OR13J1 c.398A>G p.H133R Missense 1/1 -
9-71843023-C-G TJP2 c.1446C>G p.D482E Missense 9/23 -
9-79318998-A-G PRUNE2 c.7531T>C p.S2511P Missense 9/19 -
16-20554458-C-T ACSM2B c.1408G>A p.G470R Missense 11/14 -
5-54439466-G-A CDC20B c.361C>T p.R121C Missense 4/12 -
16-20554458-C-G ACSM2B c.1408G>C p.G470R Missense 11/14 -
1-151337703-C-T SELENBP1 c.1099G>A p.E367K Missense 10/12 -
9-131341997-T-G SPTAN1 c.1303T>G p.S435A Missense 10/57 -
1-36552585-C-T TEKT2 c.686C>T p.A229V Missense 6/10 -
14-21467909-C-T SLC39A2 c.124C>T p.R42W Missense 2/4 -
11-66333800-G-C CTSF c.683C>G p.T228R Missense 5/13 -
7-100883449-C-T FIS1 c.335G>A p.R112Q Missense 4/5 -
22-43280404-G-T PACSIN2 c.773C>A p.S258Y Missense 6/11 -
5-143586755-G-A KCTD16 c.478G>A p.D160N Missense 3/4 -
4-88344154-C-A NUDT9 c.97C>A p.Q33K Missense 1/8 -
1-16459836-A-G EPHA2 c.1892T>C p.M631T Missense 11/17 -
8-144557681-C-T ZC3H3 c.1790G>A p.R597Q Missense 5/12 -
1-76378502-G-A MSH4 c.2741G>A p.S914N Missense 20/20 -
19-51170706-A-G SHANK1 c.4511T>C p.V1504A Missense 23/24 -
19-51172526-G-C SHANK1 c.2691C>G p.D897E Missense 23/24 -
21-44317156-A-C NDUFV3 c.168A>C p.K56N Missense 2/4 -
1-160011280-C-T KCNJ10 c.1043G>A p.R348H Missense 2/2 -
6-151914299-G-A CCDC170 c.1351G>A p.E451K Missense 8/11 -
3-32860125-G-T TRIM71 c.553G>T p.A185S Missense 1/4 -
18-5419723-C-T EPB41L3 c.1493G>A p.R498Q Missense 12/23 -
16-15814883-C-T MYH11 c.4604G>A p.R1535Q Missense 33/41 -
1-149762961-T-C FCGR1A c.1013T>C p.I338T Missense 6/6 -
3-124449406-A-G UMPS c.88A>G p.S30G Missense 1/6 -
9-140638534-G-A EHMT1 c.1162G>A p.A388T Missense 6/27 -
14-75360066-C-T DLST c.611C>T p.P204L Missense 9/15 -
16-2263836-C-G PGP c.859G>C p.G287R Missense 2/2 -
19-14584366-T-C PTGER1 c.767A>G p.H256R Missense 2/3 -
8-17820758-G-T PCM1 c.2612G>T p.G871V Missense 17/39 -
19-40408821-C-G FCGBP c.4018G>C p.V1340L Missense 8/36 -
16-2263836-C-T PGP c.859G>A p.G287R Missense 2/2 -
7-21640361-T-C DNAH11 c.3068T>C p.V1023A Missense 16/82 -
12-57578673-G-A LRP1 c.6238G>A p.D2080N Missense 39/89 -
11-33079580-A-G TCP11L1 c.533A>G p.K178R Missense 5/10 -
20-5903388-A-C CHGB c.598A>C p.N200H Missense 4/5 -
2-29383256-G-T CLIP4 c.1457G>T p.R486L Missense 12/16 -
6-168459845-G-C FRMD1 c.1366C>G p.Q456E Missense 10/11 -
2-219526649-G-A BCS1L c.628G>A p.D210N Missense 4/8 -
X-153589848-G-A FLNA c.3035C>T p.S1012L Missense 21/48 -
19-50905310-G-A POLD1 c.518G>A p.S173N Missense 5/27 -
19-14038791-C-T CC2D1A c.2402C>T p.T801M Missense 23/29 -
2-170493863-A-G PPIG c.2095A>G p.N699D Missense 14/14 -
5-70900270-T-A MCCC2 c.599T>A p.I200N Missense 6/17 -
2-29295284-A-T C2orf71 c.1844T>A p.V615D Missense 1/2 -
15-43816513-G-A MAP1A c.2842G>A p.V948I Missense 4/6 -
8-103663914-T-C KLF10 c.646A>G p.T216A Missense 3/4 -
19-15272218-G-A NOTCH3 c.6221C>T p.P2074L Missense 33/33 -
12-48526712-G-A PFKM c.299G>A p.R100Q Missense 5/23 -
16-3708170-C-T TRAP1 c.2075G>A p.R692H Missense 18/18 -
17-5461672-T-A NLRP1 c.2344A>T p.T782S Missense 4/17 -
3-124462824-A-G UMPS c.1336A>G p.I446V Missense 6/6 -
16-3727629-C-T TRAP1 c.574G>A p.E192K Missense 6/18 -
16-21976762-G-A UQCRC2 c.548G>A p.R183Q Missense 7/14 -
16-71318001-G-T CMTR2 c.1823C>A p.T608K Missense 3/3 -
4-111398208-A-G ENPEP c.638A>G p.Q213R Missense 1/20 -
11-108277861-C-T C11orf65 c.190G>A p.A64T Missense 4/9 -
7-150269542-G-T GIMAP4 c.384G>T p.E128D Missense 3/3 -
17-42750898-A-T MEIOC c.2622A>T p.R874S Missense 7/8 -
4-17640880-C-G FAM184B c.2659G>C p.E887Q Missense 14/18 -
1-229631734-T-C NUP133 c.880A>G p.I294V Missense 7/26 -
X-119580269-A-C LAMP2 c.755T>G p.I252S Missense 6/9 -
3-7494417-A-T GRM7 c.1298A>T p.Y433F Missense 6/10 -
14-74970041-A-G LTBP2 c.4769T>C p.V1590A Missense 33/36 -
12-113376480-G-A OAS3 c.145G>A p.A49T Missense 1/16 -
X-48838048-T-G GRIPAP1 c.1733A>C p.E578A Missense 19/26 -
1-209796950-A-C LAMB3 c.2258T>G p.V753G Missense 16/23 -
20-5904289-G-A CHGB c.1499G>A p.R500K Missense 4/5 -
19-1397443-G-A GAMT c.626C>T p.T209M Missense 6/6 -
20-5966763-A-G MCM8 c.2149A>G p.I717V Missense 16/19 -
1-11710561-T-G FBXO2 c.353A>C p.K118T Missense 2/6 -
1-11710060-T-C FBXO2 c.463A>G p.S155G Missense 3/6 -
20-36869769-C-T KIAA1755 c.764G>A p.R255Q Missense 3/14 -
12-113321161-G-T RPH3A c.1390G>T p.V464L Missense 16/22 -
1-110709720-G-A SLC6A17 c.169G>A p.A57T Missense 2/12 -
1-949608-G-A ISG15 c.248G>A p.S83N Missense 2/2 -
5-43613046-A-G NNT c.188A>G p.K63R Missense 3/22 -
9-124072992-G-A GSN c.382G>A p.V128M Missense 5/18 -
1-26504066-G-A CNKSR1 c.28G>A p.G10R Missense 1/21 -
2-69723170-G-C AAK1 c.2312C>G p.P771R Missense 17/22 -
4-166416765-C-T CPE c.1268C>T p.A423V Missense 8/9 -
1-63999868-T-C EFCAB7 c.785T>C p.M262T Missense 6/14 -
2-109088343-A-G GCC2 c.2558A>G p.E853G Missense 6/23 -
4-104012365-A-G BDH2 c.326T>C p.M109T Missense 5/10 -
10-26518671-G-A GAD2 c.805G>A p.A269T Missense 7/16 -
1-156507025-C-T IQGAP3 c.3370G>A p.A1124T Missense 27/38 -
10-135044009-G-A UTF1 c.217G>A p.G73R Missense 1/2 -
6-36976637-G-T FGD2 c.96G>T p.Q32H Missense 2/16 -
6-36976637-G-C FGD2 c.96G>C p.Q32H Missense 2/16 -
10-135044009-G-C UTF1 c.217G>C p.G73R Missense 1/2 -
14-68035879-A-G PLEKHH1 c.1288A>G p.T430A Missense 8/29 -
15-40259848-A-C EIF2AK4 c.1321A>C p.I441L Missense 9/39 -
2-70037739-C-G ANXA4 c.411C>G p.S137R Missense 7/13 -
2-70037739-C-A ANXA4 c.411C>A p.S137R Missense 7/13 -
2-70037737-A-C ANXA4 c.409A>C p.S137R Missense 7/13 -
19-13409407-C-T CACNA1A c.3040G>A p.E1014K Missense 19/47 -
1-36886117-C-G OSCP1 c.919G>C p.G307R Missense 8/10 -
1-110466555-G-C CSF1 c.1312G>C p.G438R Missense 6/9 -
1-152732567-G-A KPRP c.503G>A p.R168H Missense 2/2 -
3-193036783-G-A ATP13A5 c.2030C>T p.A677V Missense 17/30 -
6-74079464-C-T OOEP c.52G>A p.A18T Missense 1/3 -
10-15256194-G-A FAM171A1 c.1393C>T p.P465S Missense 8/8 -
11-1972143-G-A MRPL23 c.32G>A p.R11Q Missense 2/5 -
16-84158248-G-C HSDL1 c.980C>G p.S327C Missense 6/6 -
17-8701799-G-T MFSD6L c.640C>A p.P214T Missense 1/1 -
17-78449948-C-T NPTX1 c.299G>A p.G100D Missense 1/5 -
18-43497710-A-G EPG5 c.3173T>C p.V1058A Missense 17/44 -
19-2278755-C-T PEAK3 c.440G>A p.R147H Missense 3/4 -
4-71471905-G-A AMBN c.802G>A p.G268R Missense 13/13 -
12-176139-A-T IQSEC3 c.91A>T p.T31S Missense 1/14 -
11-65403651-C-A PCNX3 c.5466C>A p.H1822Q Missense 33/35 -
14-68353784-G-T RAD51B c.619G>T p.V207L Missense 7/11 -
4-3526642-T-C LRPAP1 c.341A>G p.N114S Missense 2/8 -
15-33916136-G-A RYR3 c.2486G>A p.R829H Missense 20/104 -
8-145114844-C-T OPLAH c.92G>A p.R31Q Missense 2/28 -
5-180048641-G-A FLT4 c.1921C>T p.P641S Missense 13/30 -
6-76640803-G-A IMPG1 c.2110C>T p.R704W Missense 15/17 -
2-152506811-C-T NEB c.7310G>A p.R2437Q Missense 54/182 -
13-77529644-A-G ACOD1 c.455A>G p.N152S Missense 4/5 -
9-71851040-C-G TJP2 c.1877C>G p.T626S Missense 13/23 -
9-71851039-A-T TJP2 c.1876A>T p.T626S Missense 13/23 -
19-20808143-T-A ZNF626 c.540A>T p.K180N Missense 4/4 -
19-20808143-T-G ZNF626 c.540A>C p.K180N Missense 4/4 -
21-34038278-A-G SYNJ1 c.2237T>C p.I707T Missense 17/33 -
10-120931928-C-A PRDX3 c.517G>T p.G173C Missense 5/7 -
12-8376723-G-T FAM90A1 c.212C>A p.P71Q Missense 5/7 -
9-115652255-G-C SLC46A2 c.707C>G p.P236R Missense 1/4 -
2-163144694-T-C IFIH1 c.1046A>G p.K349R Missense 5/16 -
4-77100807-T-C SCARB2 c.475A>G p.M159V Missense 4/12 -
17-10541644-C-G MYH3 c.3445G>C p.E1149Q Missense 27/41 -
X-23723711-C-G ACOT9 c.934G>C p.E312Q Missense 13/16 -
X-49114808-C-A FOXP3 c.155G>T p.G52V Missense 2/12 -
6-88125473-A-G CFAP206 c.353A>G p.D118G Missense 5/13 -
16-2155426-T-C PKD1 c.7913A>G p.H2638R Missense 21/46 -
19-35250660-G-A ZNF599 c.1046C>T p.T349M Missense 4/4 -
11-619789-T-A CDHR5 c.1071A>T p.R357S Missense 10/15 -
7-132193335-A-G PLXNA4 c.118T>C p.F40L Missense 2/32 -
7-131883311-C-T PLXNA4 c.2671G>A p.A891T Missense 13/32 -
19-41944237-T-C ATP5SL c.101A>G p.N34S Missense 2/6 -
12-9751127-T-C KLRB1 c.382A>G p.S128G Missense 4/6 -
5-70308262-C-T NAIP c.481G>A p.A161T Missense 4/17 -
6-11103979-G-A ERVFRD-1 c.1565C>T p.T522M Missense 2/2 -
10-105762909-C-G SLK c.1973C>G p.A658G Missense 9/19 -
10-90673047-G-A STAMBPL1 c.610G>A p.E204K Missense 6/11 -
18-745840-T-C YES1 c.592A>G p.I198V Missense 6/12 -
8-145662005-G-C TONSL c.1950C>G p.D650E Missense 16/26 -
10-104231098-G-A MFSD13A c.773G>A p.R258Q Missense 6/10 -
X-153594535-G-A FLNA c.1286C>T p.T429M Missense 9/48 -
2-168931636-C-T STK39 c.1195G>A p.A399T Missense 11/18 -
X-48682972-A-G HDAC6 c.3598A>G p.N1200D Missense 29/29 -
2-27887034-C-A SLC4A1AP c.415C>A p.P139T Missense 1/14 -
2-68622914-G-A PLEK c.1019G>A p.R340K Missense 9/9 -
2-191064753-C-T C2orf88 c.167C>T p.T56I Missense 2/2 -
3-33458266-T-C UBP1 c.326A>G p.N109S Missense 3/16 -
3-137796424-G-A DZIP1L c.1339C>T p.R447C Missense 11/16 -
1-16534255-C-G ARHGEF19 c.712G>C p.E238Q Missense 4/16 -
1-22165987-G-A HSPG2 c.9766C>T p.H3256Y Missense 73/97 -
1-23418153-C-T LUZP1 c.2602G>A p.D868N Missense 4/5 -
3-184801094-G-A C3orf70 c.454C>T p.P152S Missense 2/2 -
3-186006618-G-C DGKG c.425C>G p.T142S Missense 6/25 -
3-194061906-T-C CPN2 c.1526A>G p.Q509R Missense 2/2 -
4-44682465-T-C GUF1 c.173T>C p.L58P Missense 2/17 -
4-54011526-A-G SCFD2 c.1535T>C p.L512S Missense 5/9 -
4-156273768-T-C MAP9 c.1801A>G p.N601D Missense 13/14 -
5-149003627-C-T ARHGEF37 c.1388C>T p.A463V Missense 10/13 -
5-176308303-C-T HK3 c.2627G>A p.R876H Missense 18/19 -
1-42693597-A-G FOXJ3 c.485T>C p.V162A Missense 5/13 -
6-85473758-C-T TBX18 c.142G>A p.G48R Missense 1/8 -
8-74005131-A-G SBSPON c.172T>C p.F58L Missense 1/5 -
8-110283256-T-C NUDCD1 c.1277A>G p.N426S Missense 8/10 -
8-144808926-C-T FAM83H c.2705G>A p.G902E Missense 5/5 -
9-102677589-T-C STX17 c.68T>C p.I23T Missense 2/8 -
10-18266989-G-A SLC39A12 c.910G>A p.V304I Missense 5/13 -
10-28260151-A-G ODAD2 c.1028T>C p.I343T Missense 8/20 -
10-115644040-G-A NHLRC2 c.940G>A p.V314I Missense 5/11 -
11-792692-G-C SLC25A22 c.448C>G p.L150V Missense 7/10 -
12-234939-C-G IQSEC3 c.764C>G p.A255G Missense 3/14 -
12-29659798-C-T TMTC1 c.2630G>A p.R877Q Missense 18/18 -
12-53045626-T-C KRT2 c.301A>G p.S101G Missense 1/9 -
12-53088484-C-T KRT77 c.1006G>A p.D336N Missense 5/9 -
12-60173363-A-T SLC16A7 c.1340A>T p.E447V Missense 6/6 -
12-64062052-G-A DPY19L2 c.122C>T p.A41V Missense 1/22 -
12-113796566-A-C PLBD2 c.161A>C p.Q54P Missense 1/12 -
12-123200977-A-C HCAR3 c.308T>G p.V103G Missense 1/1 -
1-215848645-T-C USH2A c.12608A>G p.Q4203R Missense 63/72 -
10-134736076-T-G CFAP46 c.1393A>C p.I465L Missense 12/58 -
10-135051653-A-G VENTX c.235A>G p.M79V Missense 1/3 -
10-70044031-T-C PBLD c.770A>G p.H257R Missense 10/10 -
14-24424420-C-T DHRS4 c.305C>T p.T102M Missense 2/8 -
16-4935505-T-C PPL c.3151A>G p.K1051E Missense 22/22 -
3-122060404-C-T CSTA c.287C>T p.T96M Missense 3/3 -
16-29706444-C-T QPRT c.473C>T p.A158V Missense 2/4 -
9-115940942-C-T FKBP15 c.2054G>A p.G685D Missense 20/28 -
X-125954826-C-A PRR32 c.205C>A p.Q69K Missense 2/2 -
3-14199940-C-A XPC c.1443G>T p.K481N Missense 9/16 -
9-127693601-G-T GOLGA1 c.220C>A p.L74I Missense 4/23 -
1-196918738-C-T CFHR2 c.212C>T p.T71M Missense 2/5 -
16-2815784-G-C SRRM2 c.5255G>C p.R1752P Missense 11/15 -
16-3606938-C-A NLRC3 c.2157G>T p.K719N Missense 8/21 -
14-20924167-G-T APEX1 c.153G>T p.Q51H Missense 3/5 -
7-39610177-A-G YAE1 c.202A>G p.K68E Missense 2/3 -
2-233127938-C-G DIS3L2 c.1447C>G p.R483G Missense 13/21 -
3-81754732-A-G GBE1 c.176T>C p.I59T Missense 2/16 -
1-165648710-G-A ALDH9A1 c.899C>T p.A300V Missense 6/11 -
1-887799-C-T NOC2L c.1184G>A p.R395H Missense 10/19 -
1-906300-G-A PLEKHN1 c.526G>A p.A176T Missense 6/16 -
1-982302-C-A AGRN c.3353C>A p.T1118K Missense 19/36 -
1-985378-G-A AGRN c.4840G>A p.E1614K Missense 27/36 -
1-1290917-G-C MXRA8 c.289C>G p.Q97E Missense 3/10 -
1-1387764-G-A ATAD3C c.172G>A p.G58R Missense 3/12 -
1-1387764-G-C ATAD3C c.172G>C p.G58R Missense 3/12 -
1-1452703-G-A ATAD3A c.295G>A p.A99T Missense 3/16 -
1-2252937-C-T MORN1 c.1379G>A p.R460Q Missense 14/14 -
1-3389995-T-G ARHGEF16 c.1214T>G p.I405S Missense 8/15 -
1-3679886-C-T CCDC27 c.1169C>T p.P390L Missense 7/12 -
1-3745924-G-A CEP104 c.2057C>T p.A686V Missense 15/22 -
1-6046264-G-A NPHP4 c.86C>T p.T29M Missense 2/30 -
1-6111765-G-A KCNAB2 c.169G>A p.G57S Missense 2/16 -
1-6698390-C-T DNAJC11 c.1288G>A p.D430N Missense 12/16 -
1-9165669-G-A GPR157 c.668C>T p.A223V Missense 3/4 -
1-9775972-T-A PIK3CD c.436T>A p.F146I Missense 5/24 -
1-9811653-C-T CLSTN1 c.527G>A p.G176E Missense 5/19 -
1-10239569-C-G UBE4B c.3796C>G p.P1266A Missense 27/28 -
1-11087272-T-A MASP2 c.1731A>T p.Q577H Missense 11/11 -
1-11087272-T-G MASP2 c.1731A>C p.Q577H Missense 11/11 -
1-12443209-C-T VPS13D c.11365C>T p.L3789F Missense 58/70 -
1-15428057-G-C KAZN c.1566G>C p.E522D Missense 11/15 -
1-15428057-G-T KAZN c.1566G>T p.E522D Missense 11/15 -
1-15909850-C-T AGMAT c.313G>A p.G105R Missense 2/7 -
1-16559044-C-A CPLANE2 c.488G>T p.G163V Missense 4/5 -
1-17256695-G-A CROCC c.614G>A p.R205Q Missense 5/37 -
1-17420146-C-T PADI2 c.445G>A p.A149T Missense 5/16 -
1-17690206-C-A PADI4 c.1948C>A p.R650S Missense 16/16 -
1-18152665-T-C ACTL8 c.752T>C p.M251T Missense 3/3 -
1-18702848-C-T IGSF21 c.1060C>T p.R354W Missense 7/10 -
1-19199448-G-T ALDH4A1 c.1583C>A p.T528N Missense 15/15 -
1-19212007-G-A ALDH4A1 c.413C>T p.P138L Missense 5/15 -
1-21926100-C-A RAP1GAP c.1663G>T p.A555S Missense 21/25 -
1-22165963-T-C HSPG2 c.9790A>G p.I3264V Missense 73/97 -
1-22191361-G-C HSPG2 c.4601C>G p.P1534R Missense 36/97 -
1-22839498-A-G ZBTB40 c.2543A>G p.N848S Missense 12/18 -
1-23845566-G-A E2F2 c.794C>T p.T265I Missense 5/7 -
1-23857249-C-T E2F2 c.37G>A p.G13R Missense 1/7 -
1-23857249-C-G E2F2 c.37G>C p.G13R Missense 1/7 -
1-24978954-C-T SRRM1 c.755C>T p.P252L Missense 7/17 -
1-25555551-C-T SYF2 c.196G>A p.A66T Missense 3/7 -
1-26504066-G-C CNKSR1 c.28G>C p.G10R Missense 1/21 -
1-27219196-C-T GPATCH3 c.1198G>A p.E400K Missense 5/7 -
1-29602227-G-T PTPRU c.1412G>T p.R471L Missense 8/30 -
1-31842320-T-C FABP3 c.158A>G p.K53R Missense 2/4 -
1-32145693-C-G COL16A1 c.2620G>C p.G874R Missense 40/71 -
1-32256433-C-T SPOCD1 c.3422G>A p.R1141K Missense 16/16 -
1-32800320-C-T MARCKSL1 c.466G>A p.A156T Missense 2/2 -
1-33292008-G-A S100PBP c.308G>A p.S103N Missense 3/7 -
1-36226755-C-G CLSPN c.946G>C p.D316H Missense 7/25 -
1-36557307-C-T ADPRS c.397C>T p.R133C Missense 3/6 -
1-39957979-A-G BMP8A c.316A>G p.M106V Missense 1/7 -
1-40703178-C-T RLF c.2804C>T p.P935L Missense 8/8 -
1-43772818-G-A TIE1 c.646G>A p.G216R Missense 5/23 -
1-43772818-G-C TIE1 c.646G>C p.G216R Missense 5/23 -
1-44058233-G-A PTPRF c.1774G>A p.V592I Missense 11/34 -
1-45980626-T-C PRDX1 c.302A>G p.N101S Missense 4/6 -
1-46032307-G-A AKR1A1 c.151G>A p.G51S Missense 3/9 -
1-47282754-T-A CYP4B1 c.1108T>A p.C370S Missense 9/12 -
1-47765811-T-C STIL c.467A>G p.H156R Missense 6/17 -
1-52851608-G-A ORC1 c.1397C>T p.T466M Missense 9/17 -
1-62672415-C-T L1TD1 c.115C>T p.P39S Missense 3/4 -
1-62739226-C-T KANK4 c.1550G>A p.R517K Missense 3/10 -
1-62740264-T-C KANK4 c.512A>G p.H171R Missense 3/10 -
1-64120039-G-A PGM1 c.1501G>A p.V501I Missense 10/11 -
1-70819679-C-A ANKRD13C c.413G>T p.G138V Missense 1/13 -
1-71536574-G-C ZRANB2 c.619C>G p.R207G Missense 7/10 -
1-75188902-C-T CRYZ c.164G>A p.R55H Missense 3/9 -
1-79358827-G-T ADGRL4 c.1797C>A p.H599Q Missense 13/15 -
1-79358827-G-C ADGRL4 c.1797C>G p.H599Q Missense 13/15 -
1-89322983-T-G GTF2B c.723A>C p.E241D Missense 6/7 -
1-89322983-T-A GTF2B c.723A>T p.E241D Missense 6/7 -
1-89652071-T-C GBP4 c.1652A>G p.E551G Missense 10/11 -
1-100349757-A-G AGL c.2390A>G p.N797S Missense 18/34 -
1-100361925-G-A AGL c.3343G>A p.G1115R Missense 25/34 -
1-100361925-G-C AGL c.3343G>C p.G1115R Missense 25/34 -
1-100681587-A-G DBT c.724T>C p.S242P Missense 6/11 -
1-100964667-A-G CDC14A c.1604A>G p.Q535R Missense 15/16 -
1-109779073-G-A SARS1 c.1160G>A p.G387E Missense 9/11 -
1-109878903-C-G SORT1 c.1330G>C p.E444Q Missense 11/20 -
1-110050180-C-T AMIGO1 c.1355G>A p.G452D Missense 2/2 -
1-110257647-T-A GSTM5 c.439T>A p.W147R Missense 6/8 -
1-110302450-C-G EPS8L3 c.105G>C p.M35I Missense 4/19 -
1-110302450-C-T EPS8L3 c.105G>A p.M35I Missense 4/19 -
1-110302450-C-A EPS8L3 c.105G>T p.M35I Missense 4/19 -
1-113162494-G-A CAPZA1 c.28G>A p.D10N Missense 1/10 -
1-117660820-C-T TRIM45 c.1058G>A p.R353Q Missense 2/6 -
1-118165936-C-T TENT5C c.446C>T p.T149I Missense 2/2 -
1-145562938-G-A ANKRD35 c.2626G>A p.E876K Missense 10/14 -
1-145606361-T-C POLR3C c.592A>G p.K198E Missense 5/16 -
1-150444432-C-T RPRD2 c.3008C>T p.T1003I Missense 11/11 -
1-151015564-G-A BNIPL c.566G>A p.R189H Missense 5/10 -
1-151491674-C-T CGN c.679C>T p.R227W Missense 2/21 -
1-151502966-C-G CGN c.2315C>G p.A772G Missense 13/21 -
1-151751274-C-G TDRKH c.770G>C p.G257A Missense 6/13 -
1-151955753-G-C S100A10 c.180C>G p.D60E Missense 3/3 -
1-151955753-G-T S100A10 c.180C>A p.D60E Missense 3/3 -
1-152084531-G-C TCHH c.1162C>G p.Q388E Missense 3/3 -
1-152084582-C-G TCHH c.1111G>C p.E371Q Missense 3/3 -
1-152084984-C-G TCHH c.709G>C p.V237L Missense 3/3 -
1-152084984-C-A TCHH c.709G>T p.V237L Missense 3/3 -
1-152129087-T-C RPTN c.488A>G p.K163R Missense 3/3 -
1-152331240-G-A FLG2 c.121C>T p.L41F Missense 2/3 -
1-152883786-C-G IVL c.1513C>G p.Q505E Missense 2/2 -
1-153390642-G-C S100A7A c.84G>C p.E28D Missense 2/3 -
1-153390642-G-T S100A7A c.84G>T p.E28D Missense 2/3 -
1-153580155-C-A S100A16 c.167G>T p.R56L Missense 3/3 -
1-153591508-C-T S100A13 c.160G>A p.G54S Missense 3/3 -
1-153652104-C-G NPR1 c.520C>G p.R174G Missense 1/22 -
1-154541971-T-G CHRNB2 c.98T>G p.V33G Missense 2/6 -
1-156563805-G-A NAXE c.796G>A p.A266T Missense 6/6 -
1-156616814-C-G BCAN c.313C>G p.R105G Missense 3/14 -
1-156628415-C-T BCAN c.2518C>T p.L840F Missense 13/14 -
1-158612719-C-T SPTA1 c.4490G>A p.G1497E Missense 32/52 -
1-158631144-C-G SPTA1 c.2520G>C p.E840D Missense 18/52 -
1-158631144-C-A SPTA1 c.2520G>T p.E840D Missense 18/52 -
1-158639328-C-T SPTA1 c.1703G>A p.R568H Missense 14/52 -
1-159854251-T-C CFAP45 c.872A>G p.E291G Missense 7/12 -
1-160090727-C-T ATP1A2 c.44C>T p.T15M Missense 2/23 -
1-160607241-A-G SLAMF1 c.155T>C p.I52T Missense 2/7 -
1-160654857-A-T CD48 c.205T>A p.W69R Missense 2/4 -
1-160654857-A-G CD48 c.205T>C p.W69R Missense 2/4 -
1-160811488-T-C CD244 c.265A>G p.N89D Missense 2/9 -
1-161008424-G-A TSTD1 c.50C>T p.A17V Missense 2/4 -
1-162367103-G-C SH2D1B c.366C>G p.N122K Missense 4/4 -
1-162367103-G-T SH2D1B c.366C>A p.N122K Missense 4/4 -
2-179590329-C-T TTN c.20602G>A p.G6868R Missense 71/363 -
2-179590329-C-G TTN c.20602G>C p.G6868R Missense 71/363 -
2-190660537-G-A PMS1 c.175G>A p.E59K Missense 3/13 -
2-191110893-C-T HIBCH c.796G>A p.D266N Missense 10/14 -
2-192701407-G-C CAVIN2 c.520C>G p.Q174E Missense 2/2 -
2-197954676-G-A ANKRD44 c.1181C>T p.S394L Missense 11/28 -
2-198359436-T-C HSPD1 c.551A>G p.N184S Missense 5/12 -
2-198948717-A-G PLCL1 c.476A>G p.D159G Missense 2/6 -
2-198949344-A-G PLCL1 c.1103A>G p.Q368R Missense 2/6 -
2-200776353-T-G C2orf69 c.192T>G p.D64E Missense 1/2 -
2-200776353-T-A C2orf69 c.192T>A p.D64E Missense 1/2 -
2-202357196-A-G C2CD6 c.3868T>C p.F1290L Missense 15/16 -
2-202357194-A-T C2CD6 c.3870T>A p.F1290L Missense 15/16 -
2-202357194-A-C C2CD6 c.3870T>G p.F1290L Missense 15/16 -
2-202400872-G-A C2CD6 c.1378C>T p.P460S Missense 13/16 -
2-207026131-G-A EEF1B2 c.265G>A p.G89R Missense 3/6 -
2-207026131-G-C EEF1B2 c.265G>C p.G89R Missense 3/6 -
2-209035751-G-A C2orf80 c.491C>T p.A164V Missense 8/9 -
2-211085464-A-G ACADL c.140T>C p.I47T Missense 2/11 -
2-211085491-G-A ACADL c.113C>T p.T38I Missense 2/11 -
2-211306138-T-G LANCL1 c.437A>C p.H146P Missense 5/10 -
2-217012977-G-T XRCC5 c.1648G>T p.A550S Missense 14/21 -
2-219528898-C-G RNF25 c.1162G>C p.E388Q Missense 10/10 -
2-220313633-G-A SPEG c.1753G>A p.G585S Missense 4/41 -
2-220404335-C-T CHPF c.2098G>A p.E700K Missense 4/4 -
2-223505628-G-A FARSB c.292C>T p.R98W Missense 4/17 -
2-224463129-T-C SCG2 c.872A>G p.Q291R Missense 2/2 -
2-224463820-A-G SCG2 c.181T>C p.Y61H Missense 2/2 -
2-224828547-G-T MRPL44 c.723G>T p.L241F Missense 3/4 -
2-224828547-G-C MRPL44 c.723G>C p.L241F Missense 3/4 -
2-228881941-G-T SPHKAP c.3629C>A p.A1210D Missense 7/12 -
2-231042873-C-T SP110 c.1447G>A p.G483R Missense 13/19 -
2-231042873-C-G SP110 c.1447G>C p.G483R Missense 13/19 -
2-232326517-T-G NCL c.347A>C p.K116T Missense 3/14 -
2-232457880-T-C TEX44 c.218T>C p.V73A Missense 1/1 -
2-234750380-C-T HJURP c.1046G>A p.R349H Missense 8/9 -
2-238427194-T-C MLPH c.458T>C p.L153P Missense 5/16 -
2-241401673-G-A GPC1 c.391G>A p.G131R Missense 3/9 -
2-241401673-G-C GPC1 c.391G>C p.G131R Missense 3/9 -
3-48643235-C-A UQCRC1 c.265G>T p.A89S Missense 3/13 -
2-242204015-T-C HDLBP c.82A>G p.T28A Missense 4/28 -
2-242498984-C-G BOK c.86C>G p.A29G Missense 2/5 -
2-242606080-G-A ATG4B c.559G>A p.V187I Missense 8/13 -
2-242674803-G-A D2HGDH c.164G>A p.R55Q Missense 2/10 -
3-439968-G-C CHL1 c.3153G>C p.E1051D Missense 25/28 -
3-5216072-A-G ARL8B c.484A>G p.I162V Missense 6/7 -
3-12544829-G-A TSEN2 c.377G>A p.R126H Missense 5/12 -
3-12861608-G-A CAND2 c.2968G>A p.V990I Missense 11/15 -
3-12880956-T-C RPL32 c.170A>G p.N57S Missense 3/4 -
3-12962074-G-A IQSEC1 c.1876C>T p.P626S Missense 6/15 -
3-13379371-C-T NUP210 c.3518G>A p.R1173H Missense 26/40 -
3-13649600-G-A FBLN2 c.1345G>A p.G449R Missense 3/18 -
3-13649600-G-C FBLN2 c.1345G>C p.G449R Missense 3/18 -
3-14199940-C-G XPC c.1443G>C p.K481N Missense 9/16 -
3-14220032-C-T XPC c.37G>A p.G13R Missense 1/16 -
3-14862235-G-A FGD5 c.1657G>A p.V553M Missense 1/20 -
3-15115872-A-G RBSN c.1772T>C p.L591P Missense 14/14 -
3-15137528-C-G RBSN c.100G>C p.E34Q Missense 4/14 -
3-15297787-T-C SH3BP5 c.1174A>G p.N392D Missense 9/9 -
3-32586521-C-T DYNC1LI1 c.415G>A p.V139I Missense 4/13 -
3-37144467-CT-TG LRRFIP2 c.820_821delAGinsCA p.R274Q Missense 15/28 -
3-39108050-T-G WDR48 c.280T>G p.S94A Missense 4/19 -
3-44285446-A-G TOPAZ1 c.1448A>G p.Q483R Missense 2/20 -
3-44852353-A-G KIF15 c.1987A>G p.T663A Missense 17/35 -
3-45132872-C-T CDCP1 c.1786G>A p.G596S Missense 7/9 -
3-47545919-G-A ELP6 c.224C>T p.A75V Missense 4/7 -
3-48309828-C-G ZNF589 c.647C>G p.T216R Missense 4/4 -
3-48664473-C-T SLC26A6 c.1909G>A p.D637N Missense 18/21 -
3-49153935-G-T USP19 c.1232C>A p.T411N Missense 8/27 -
3-49373027-T-C USP4 c.104A>G p.Y35C Missense 2/22 -
3-49662566-C-T BSN c.383C>T p.T128M Missense 2/12 -
3-49679930-C-T BSN c.863C>T p.P288L Missense 3/12 -
3-49689642-C-T BSN c.2653C>T p.P885S Missense 5/12 -
3-49690627-G-A BSN c.3638G>A p.G1213D Missense 5/12 -
3-49691434-C-T BSN c.4445C>T p.P1482L Missense 5/12 -
3-49698115-G-A BSN c.8837G>A p.R2946Q Missense 6/12 -
3-49700582-G-A BSN c.10991G>A p.R3664Q Missense 7/12 -
3-49701910-C-T BSN c.11663C>T p.P3888L Missense 9/12 -
3-51672170-A-G RAD54L2 c.1693A>G p.T565A Missense 12/23 -
3-51746781-C-T GRM2 c.743C>T p.A248V Missense 3/6 -
3-51929096-C-T IQCF1 c.428G>A p.R143H Missense 4/4 -
3-52027986-T-G RPL29 c.259A>C p.K87Q Missense 4/4 -
3-52366368-A-G DNAH1 c.1244A>G p.K415R Missense 8/78 -
3-52378540-G-C DNAH1 c.1321G>C p.V441L Missense 9/78 -
3-52378540-G-T DNAH1 c.1321G>T p.V441L Missense 9/78 -
3-52426643-G-A DNAH1 c.10216G>A p.V3406I Missense 64/78 -
3-53263383-A-G TKT c.1177T>C p.F393L Missense 9/14 -
3-53263381-G-T TKT c.1179C>A p.F393L Missense 9/14 -
3-53263381-G-C TKT c.1179C>G p.F393L Missense 9/14 -
3-53267183-C-T TKT c.737G>A p.R246Q Missense 6/14 -
3-53269028-G-C TKT c.600C>G p.D200E Missense 5/14 -
3-53269028-G-T TKT c.600C>A p.D200E Missense 5/14 -
3-53269087-T-C TKT c.541A>G p.I181V Missense 5/14 -
3-53834369-G-A CACNA1D c.5017G>A p.E1673K Missense 41/48 -
3-56020014-AA-CT ERC2 c.2257_2258delTTinsAG p.L753R Missense 12/18 -
3-56330401-G-T ERC2 c.720C>A p.H240Q Missense 3/18 -
3-56330401-G-C ERC2 c.720C>G p.H240Q Missense 3/18 -
3-57542456-T-C PDE12 c.350T>C p.V117A Missense 1/3 -
3-58080583-A-G FLNB c.808A>G p.M270V Missense 5/46 -
3-58552997-C-A FAM107A c.265G>T p.A89S Missense 3/4 -
3-101283792-C-G TRMT10C c.167C>G p.P56R Missense 2/2 -
3-101293097-A-G PCNP c.38A>G p.K13R Missense 1/5 -
3-101568656-TC-GG NFKBIZ c.184_185delTCinsGG p.S62G Missense 1/12 -
3-107097072-T-C CCDC54 c.638T>C p.I213T Missense 1/1 -
3-111603151-G-T PHLDB2 c.227G>T p.G76V Missense 2/18 -
3-111710287-G-C ABHD10 c.640G>C p.V214L Missense 5/5 -
3-111710398-A-G ABHD10 c.751A>G p.I251V Missense 5/5 -
3-113052314-G-C CFAP44 c.3554C>G p.P1185R Missense 25/35 -
3-113179485-T-C SPICE1 c.1414A>G p.R472G Missense 12/18 -
6-34360064-A-G NUDT3 c.76T>C p.F26L Missense 1/5 -
3-113285388-T-G SIDT1 c.344T>G p.L115R Missense 2/25 -
3-113377207-T-C USF3 c.3322A>G p.T1108A Missense 7/7 -
3-122296638-G-A PARP15 c.124G>A p.V42M Missense 1/12 -
3-122419083-C-A PARP14 c.1682C>A p.A561E Missense 6/17 -
3-126451937-G-T CHCHD6 c.283G>T p.A95S Missense 4/8 -
3-126733406-G-A PLXNA1 c.2690G>A p.R897H Missense 13/32 -
3-126748749-A-G PLXNA1 c.4903A>G p.S1635G Missense 28/32 -
3-130293046-G-C COL6A6 c.3224G>C p.G1075A Missense 7/36 -
3-133467337-G-T TF c.125G>T p.R42L Missense 2/17 -
3-133670066-G-A SLCO2A1 c.847C>T p.P283S Missense 6/14 -
3-133748570-G-A SLCO2A1 c.77C>T p.S26L Missense 1/14 -
3-134080570-CCG-GCT AMOTL2 c.1357_1359delCGGinsAGC p.R453S Missense 6/10 -
3-134090193-G-A AMOTL2 c.83C>T p.T28M Missense 2/10 -
3-139257727-T-C RBP1 c.334A>G p.M112V Missense 2/4 -
3-140123483-A-G CLSTN2 c.512A>G p.E171G Missense 4/17 -
3-141006211-G-A PXYLP1 c.421G>A p.G141R Missense 5/6 -
3-141006211-G-C PXYLP1 c.421G>C p.G141R Missense 5/6 -
3-153840389-T-C ARHGEF26 c.608T>C p.F203S Missense 2/15 -
3-153958173-A-G ARHGEF26 c.2105A>G p.N702S Missense 12/15 -
3-156266724-C-T SSR3 c.329G>A p.R110K Missense 3/5 -
3-156413682-A-C TIPARP c.1115A>C p.N372T Missense 4/6 -
3-156697028-C-T LEKR1 c.791C>T p.A264V Missense 7/13 -
3-169572694-C-T LRRC31 c.898G>A p.E300K Missense 6/9 -
3-171394548-C-A PLD1 c.2072G>T p.R691L Missense 18/27 -
3-179119066-C-T GNB4 c.958G>A p.V320I Missense 10/10 -
3-179408054-C-T USP13 c.320C>T p.A107V Missense 3/21 -
3-182584077-T-G ATP11B c.1465T>G p.F489V Missense 14/30 -
3-186006619-T-A DGKG c.424A>T p.T142S Missense 6/25 -
3-187088958-C-T RTP4 c.538C>T p.H180Y Missense 2/2 -
3-194408444-G-A FAM43A c.889G>A p.E297K Missense 1/1 -
3-195300740-C-T APOD c.226G>A p.V76M Missense 3/5 -
3-195300800-A-C APOD c.166T>G p.F56V Missense 3/5 -
3-195792376-T-C TFRC c.1136A>G p.N379S Missense 10/19 -
3-196234847-C-T SMCO1 c.556G>A p.V186M Missense 3/3 -
4-366596-A-G ZNF141 c.370A>G p.K124E Missense 4/4 -
4-668009-G-A ATP5ME c.28C>T p.L10F Missense 1/4 -
4-982821-C-A SLC26A1 c.1906G>T p.D636Y Missense 3/3 -
4-1818625-T-C LETM1 c.1760A>G p.K587R Missense 12/14 -
4-1824020-C-T LETM1 c.1496G>A p.R499H Missense 10/14 -
4-3519881-C-T LRPAP1 c.631G>A p.D211N Missense 5/8 -
4-7666160-G-A SORCS2 c.1033G>A p.G345R Missense 7/27 -
4-7666160-G-C SORCS2 c.1033G>C p.G345R Missense 7/27 -
4-8605841-G-A CPZ c.635G>A p.S212N Missense 4/11 -
4-9452222-C-G DEFB131A c.195C>G p.D65E Missense 2/2 -
4-9452222-C-A DEFB131A c.195C>A p.D65E Missense 2/2 -
4-10446707-C-T ZNF518B c.1246G>A p.V416I Missense 3/3 -
4-13604206-C-T BOD1L1 c.4318G>A p.V1440I Missense 10/26 -
4-37836294-G-A PGM2 c.304G>A p.V102M Missense 3/14 -
4-41263776-A-C UCHL1 c.370A>C p.M124L Missense 5/9 -
4-41263776-A-T UCHL1 c.370A>T p.M124L Missense 5/9 -
4-47537548-G-A ATP10D c.799G>A p.V267M Missense 6/23 -
4-47570876-G-A ATP10D c.2876G>A p.S959N Missense 16/23 -
4-47809012-G-A CORIN c.116C>T p.A39V Missense 2/22 -
4-47839939-C-T CORIN c.28G>A p.E10K Missense 1/22 -
4-47896315-A-G NFXL1 c.1334T>C p.V445A Missense 11/23 -
4-48027327-G-A NIPAL1 c.289G>A p.A97T Missense 2/6 -
4-68484837-C-G UBA6 c.3037G>C p.V1013L Missense 33/33 -
4-68484837-C-A UBA6 c.3037G>T p.V1013L Missense 33/33 -
4-68534392-C-T UBA6 c.670G>A p.A224T Missense 9/33 -
4-69337325-C-A TMPRSS11E c.474C>A p.H158Q Missense 5/10 -
4-69337325-C-G TMPRSS11E c.474C>G p.H158Q Missense 5/10 -
4-70799939-C-G CSN1S1 c.61C>G p.L21V Missense 3/16 -
4-70898905-G-C HTN3 c.124G>C p.G42R Missense 5/6 -
4-71471905-G-C AMBN c.802G>C p.G268R Missense 13/13 -
4-71508539-G-A ENAM c.1396G>A p.V466I Missense 9/9 -
4-71555598-C-A UTP3 c.1204C>A p.L402I Missense 1/1 -
4-74274363-A-G ALB c.323A>G p.Y108C Missense 4/15 -
4-77089557-C-T SCARB2 c.1186G>A p.V396I Missense 9/12 -
4-79371331-C-T FRAS1 c.6301C>T p.H2101Y Missense 45/74 -
4-79507418-C-T ANXA3 c.317C>T p.A106V Missense 6/13 -
4-83785581-A-C SEC31A c.1368T>G p.N456K Missense 11/27 -
4-83785581-A-T SEC31A c.1368T>A p.N456K Missense 11/27 -
4-88116529-C-G KLHL8 c.163G>C p.G55R Missense 2/10 -
4-88578220-G-A DMP1 c.91G>A p.E31K Missense 3/6 -
4-90171195-C-T GPRIN3 c.67G>A p.D23N Missense 2/2 -
4-91230579-G-A CCSER1 c.1144G>A p.G382S Missense 2/11 -
4-91549361-A-G CCSER1 c.1910A>G p.K637R Missense 6/11 -
4-96761363-T-A PDHA2 c.62T>A p.V21E Missense 1/1 -
4-104013796-T-C BDH2 c.209A>G p.N70S Missense 4/10 -
4-104057383-T-C CENPE c.6437A>G p.Y2146C Missense 40/49 -
4-113568861-C-T LARP7 c.1013C>T p.T338I Missense 8/13 -
4-114274230-G-C ANK2 c.4456G>C p.V1486L Missense 38/46 -
4-114276880-T-C ANK2 c.7106T>C p.V2369A Missense 38/46 -
4-114276906-G-A ANK2 c.7132G>A p.E2378K Missense 38/46 -
4-114279674-C-G ANK2 c.9900C>G p.S3300R Missense 38/46 -
4-114279674-C-A ANK2 c.9900C>A p.S3300R Missense 38/46 -
4-114279672-A-C ANK2 c.9898A>C p.S3300R Missense 38/46 -
4-122590824-A-G ANXA5 c.836T>C p.I279T Missense 12/13 -
4-151141918-A-C DCLK2 c.1120A>C p.I374L Missense 6/16 -
4-151141918-A-T DCLK2 c.1120A>T p.I374L Missense 6/16 -
4-156274377-T-C MAP9 c.1496A>G p.K499R Missense 11/14 -
4-159631800-C-T PPID c.1004G>A p.G335E Missense 9/10 -
4-159894311-A-G C4orf45 c.217T>C p.Y73H Missense 2/5 -
4-164435265-A-C TMA16 c.194A>C p.Q65P Missense 4/7 -
4-169196609-C-T DDX60 c.2191G>A p.V731I Missense 16/38 -
4-170990375-C-T AADAT c.727G>A p.V243I Missense 7/13 -
4-187522507-C-G FAT1 c.11556G>C p.E3852D Missense 21/27 -
4-187522507-C-A FAT1 c.11556G>T p.E3852D Missense 21/27 -
4-189060945-C-T TRIML1 c.233C>T p.A78V Missense 1/6 -
5-7900056-A-G MTRR c.1982A>G p.H661R Missense 15/15 -
5-10250538-T-C CCT5 c.86T>C p.M29T Missense 1/11 -
5-10261701-C-G CCT5 c.1023C>G p.I341M Missense 8/11 -
5-10411635-A-C MARCHF6 c.1882A>C p.N628H Missense 19/26 -
5-10683642-C-T DAP c.194G>A p.R65Q Missense 3/4 -
5-17275563-G-C BASP1 c.238G>C p.E80Q Missense 2/2 -
5-17275966-C-T BASP1 c.641C>T p.A214V Missense 2/2 -
5-17275996-C-A BASP1 c.671C>A p.T224N Missense 2/2 -
5-33462212-G-A TARS1 c.1739G>A p.G580D Missense 16/19 -
5-36972056-T-G NIPBL c.781T>G p.S261A Missense 8/47 -
5-39126145-C-T FYB1 c.2000G>A p.R667Q Missense 12/19 -
5-41909884-C-A RIMOC1 c.244C>A p.L82I Missense 3/6 -
5-43556822-G-A PAIP1 c.127C>T p.H43Y Missense 1/11 -
5-52398005-T-C MOCS2 c.148A>G p.T50A Missense 4/7 -
5-56778225-T-C ACTBL2 c.310A>G p.I104V Missense 1/1 -
5-56778405-C-T ACTBL2 c.130G>A p.V44I Missense 1/1 -
5-60448723-G-A NDUFAF2 c.451G>A p.G151S Missense 4/4 -
5-64976539-A-T SGTB c.562T>A p.S188T Missense 7/11 -
5-68603851-A-C CCDC125 c.458T>G p.I153R Missense 5/12 -
5-68709884-G-A RAD17 c.1778G>A p.R593K Missense 19/19 -
5-71756654-C-G ZNF366 c.670G>C p.E224Q Missense 2/5 -
5-78612017-G-A JMY c.2854G>A p.D952N Missense 10/11 -
5-79024747-C-G CMYA5 c.159C>G p.D53E Missense 2/13 -
5-79024747-C-A CMYA5 c.159C>A p.D53E Missense 2/13 -
5-82406931-T-C XRCC4 c.224T>C p.L75S Missense 3/8 -
5-82491684-T-G XRCC4 c.411T>G p.N137K Missense 4/8 -
5-82491684-T-A XRCC4 c.411T>A p.N137K Missense 4/8 -
5-82808027-C-T VCAN c.854C>T p.A285V Missense 6/15 -
5-82816284-T-C VCAN c.2159T>C p.V720A Missense 7/15 -
5-82937374-C-T HAPLN1 c.1006G>A p.G336S Missense 5/5 -
5-82937538-T-C HAPLN1 c.842A>G p.N281S Missense 5/5 -
5-89703641-C-A CETN3 c.28G>T p.V10L Missense 2/5 -
5-89783924-T-G POLR3G c.225T>G p.I75M Missense 3/8 -
5-96478219-G-A LIX1 c.62C>T p.P21L Missense 1/6 -
5-101834469-G-A SLCO6A1 c.80C>T p.A27V Missense 1/14 -
5-109940891-C-T TMEM232 c.1195G>A p.D399N Missense 10/14 -
5-110096992-A-G SLC25A46 c.767A>G p.K256R Missense 8/8 -
5-125880710-T-C ALDH7A1 c.1567A>G p.T523A Missense 18/18 -
5-125887715-T-G ALDH7A1 c.1315A>C p.K439Q Missense 14/18 -
5-132097292-C-T SEPTIN8 c.820G>A p.V274M Missense 7/10 -
5-132435253-C-G HSPA4 c.1946C>G p.T649S Missense 16/19 -
5-132435252-A-T HSPA4 c.1945A>T p.T649S Missense 16/19 -
5-134782443-T-C DCANP1 c.356A>G p.K119R Missense 1/1 -
5-138160248-G-T CTNNA1 c.618G>T p.Q206H Missense 6/18 -
5-138160248-G-C CTNNA1 c.618G>C p.Q206H Missense 6/18 -
5-139231255-C-T NRG2 c.1706G>A p.R569H Missense 9/10 -
5-139661097-T-G PFDN1 c.222A>C p.E74D Missense 3/4 -
5-139661097-T-A PFDN1 c.222A>T p.E74D Missense 3/4 -
5-140222788-A-G PCDHA8 c.1882A>G p.T628A Missense 1/4 -
5-140503474-C-G PCDHB4 c.1894C>G p.R632G Missense 1/1 -
5-140730384-G-T PCDHGB1 c.557G>T p.S186I Missense 1/4 -
5-140751840-C-A PCDHGB3 c.1879C>A p.R627S Missense 1/4 -
5-140772573-C-T PCDHGA8 c.193C>T p.R65C Missense 1/4 -
5-140795128-T-C PCDHGA10 c.2386T>C p.S796P Missense 1/4 -
5-141052386-C-G ARAP3 c.1200G>C p.M400I Missense 8/33 -
5-141052386-C-T ARAP3 c.1200G>A p.M400I Missense 8/33 -
5-141052386-C-A ARAP3 c.1200G>T p.M400I Missense 8/33 -
5-141248963-T-G PCDH1 c.74A>C p.H25P Missense 2/5 -
5-145439659-G-A SH3RF2 c.1786G>A p.A596T Missense 9/10 -
5-149003626-G-A ARHGEF37 c.1387G>A p.A463T Missense 10/13 -
5-150029383-C-T SYNPO c.1546C>T p.P516S Missense 2/3 -
5-154278151-G-A GEMIN5 c.3194C>T p.A1065V Missense 23/28 -
5-156531694-G-C HAVCR2 c.461C>G p.T154S Missense 3/7 -
5-156531695-T-A HAVCR2 c.460A>T p.T154S Missense 3/7 -
5-157065499-A-G SOX30 c.1619T>C p.L540P Missense 4/5 -
5-157106855-G-A C5orf52 c.328G>A p.A110T Missense 3/3 -
5-159437621-C-G TTC1 c.86C>G p.A29G Missense 2/8 -
5-159659262-G-C FABP6 c.225G>C p.M75I Missense 2/4 -
5-159659262-G-A FABP6 c.225G>A p.M75I Missense 2/4 -
5-159659262-G-T FABP6 c.225G>T p.M75I Missense 2/4 -
5-169020469-G-A SPDL1 c.448G>A p.V150I Missense 4/12 -
5-176016559-C-T CDHR2 c.3148C>T p.R1050W Missense 24/32 -
5-176025334-C-T GPRIN1 c.1502G>A p.G501E Missense 2/2 -
5-179268995-C-T MRNIP c.361G>A p.E121K Missense 5/7 -
5-180631828-G-C TRIM7 c.283C>G p.Q95E Missense 1/7 -
6-491150-C-A EXOC2 c.2596G>T p.A866S Missense 26/28 -
6-2893754-A-G SERPINB9 c.458T>C p.I153T Missense 5/7 -
6-3010298-A-G NQO2 c.47A>G p.K16R Missense 3/7 -
6-3012778-G-A NQO2 c.173G>A p.G58D Missense 4/7 -
6-7395322-A-G RIOK1 c.313A>G p.M105V Missense 3/17 -
6-10709581-A-G PAK1IP1 c.1075A>G p.K359E Missense 10/10 -
6-10942964-A-G SYCP2L c.1939A>G p.N647D Missense 23/30 -
6-12164348-C-T HIVEP1 c.7811C>T p.P2604L Missense 9/9 -
6-17688693-C-T NUP153 c.268G>A p.D90N Missense 2/22 -
6-24436901-T-C GPLD1 c.2261A>G p.E754G Missense 22/25 -
6-24559300-C-T KIAA0319 c.2675G>A p.R892Q Missense 17/21 -
6-27279805-G-T POM121L2 c.145C>A p.P49T Missense 1/1 -
6-27879397-T-C OR2B2 c.701A>G p.Q234R Missense 1/1 -
6-29430334-C-T OR2H1 c.788C>T p.P263L Missense 4/4 -
6-30135009-T-G TRIM15 c.438T>G p.D146E Missense 2/7 -
6-30135009-T-A TRIM15 c.438T>A p.D146E Missense 2/7 -
6-30593485-C-G MRPS18B c.688C>G p.P230A Missense 7/7 -
6-30610758-G-T ATAT1 c.902G>T p.G301V Missense 10/13 -
6-30672888-A-T MDC1 c.4072T>A p.S1358T Missense 10/15 -
6-30673013-A-G MDC1 c.3947T>C p.M1316T Missense 10/15 -
6-31105900-C-A PSORS1C2 c.239G>T p.G80V Missense 2/2 -
6-31322410-A-T HLA-B c.1045T>A p.C349S Missense 6/8 -
6-31324063-G-C HLA-B c.500C>G p.T167S Missense 3/8 -
6-31600106-C-A PRRC2A c.3656C>A p.S1219Y Missense 16/31 -
6-31600696-G-A PRRC2A c.4246G>A p.G1416S Missense 16/31 -
6-31868938-C-T ZBTB12 c.145G>A p.V49I Missense 2/2 -
6-31937373-C-T SKIV2L c.3622C>T p.R1208C Missense 28/28 -
6-32159931-G-C GPSM3 c.139C>G p.H47D Missense 2/4 -
6-32782926-G-T HLA-DOB c.256C>A p.Q86K Missense 2/6 -
6-33257969-C-T PFDN6 c.83C>T p.S28L Missense 2/4 -
6-33405980-C-T SYNGAP1 c.1298C>T p.A433V Missense 8/19 -
6-34360062-G-T NUDT3 c.78C>A p.F26L Missense 1/5 -
6-34360062-G-C NUDT3 c.78C>G p.F26L Missense 1/5 -
6-36652117-C-T CDKN1A c.239C>T p.T80M Missense 2/3 -
6-36953903-G-A MTCH1 c.47C>T p.A16V Missense 1/12 -
6-38084405-C-T ZFAND3 c.419C>T p.T140M Missense 5/6 -
6-38881708-G-A DNAH8 c.9943G>A p.A3315T Missense 67/93 -
6-38905864-C-T DNAH8 c.11678C>T p.A3893V Missense 78/93 -
6-38906729-C-T DNAH8 c.11972C>T p.T3991I Missense 79/93 -
6-39869235-G-T DAAM2 c.2969G>T p.R990L Missense 24/25 -
6-40399877-C-T LRFN2 c.976G>A p.D326N Missense 2/3 -
6-42072274-C-T C6orf132 c.3376G>A p.A1126T Missense 4/5 -
6-42666136-G-A PRPH2 c.938C>T p.P313L Missense 3/3 -
6-43252029-T-C TTBK1 c.3551T>C p.L1184S Missense 14/15 -
6-44218163-G-A HSP90AB1 c.784G>A p.G262S Missense 6/12 -
6-46632594-T-C SLC25A27 c.590T>C p.I197T Missense 5/9 -
6-46657421-G-T TDRD6 c.1556G>T p.R519I Missense 1/4 -
6-49519169-T-C C6orf141 c.664T>C p.S222P Missense 1/1 -
6-52998936-C-T GCM1 c.262G>A p.A88T Missense 3/6 -
6-72889549-C-T RIMS1 c.743C>T p.S248L Missense 5/34 -
6-76024220-C-T FILIP1 c.1328G>A p.S443N Missense 5/6 -
6-76728524-C-T IMPG1 c.718G>A p.V240I Missense 7/17 -
6-84025039-C-T ME1 c.694G>A p.V232I Missense 6/14 -
6-84634296-C-G CYB5R4 c.799C>G p.P267A Missense 10/16 -
6-85473758-C-G TBX18 c.142G>C p.G48R Missense 1/8 -
6-86195033-G-A NT5E c.832G>A p.V278I Missense 4/9 -
6-88125455-T-C CFAP206 c.335T>C p.V112A Missense 5/13 -
6-90347511-T-C LYRM2 c.136A>G p.K46E Missense 2/3 -
6-107103510-G-C QRSL1 c.1063G>C p.V355L Missense 9/11 -
6-107103510-G-T QRSL1 c.1063G>T p.V355L Missense 9/11 -
6-108197775-G-A SEC63 c.2027C>T p.T676I Missense 19/21 -
6-123714775-C-T TRDN c.1099G>A p.A367T Missense 13/41 -
6-123833457-G-C TRDN c.601C>G p.L201V Missense 7/41 -
6-129513837-A-G LAMA2 c.1621A>G p.S541G Missense 12/65 -
6-129959721-C-T ARHGAP18 c.370G>A p.G124R Missense 3/15 -
6-130182304-G-C TMEM244 c.30C>G p.S10R Missense 1/5 -
6-130182304-G-T TMEM244 c.30C>A p.S10R Missense 1/5 -
6-130182306-T-G TMEM244 c.28A>C p.S10R Missense 1/5 -
6-132874526-C-G TAAR8 c.695C>G p.T232S Missense 1/1 -
6-132874525-A-T TAAR8 c.694A>T p.T232S Missense 1/1 -
6-133091458-A-T SLC18B1 c.1322T>A p.I441N Missense 14/14 -
6-136681926-T-G MAP7 c.1712A>C p.E571A Missense 13/18 -
6-142539730-G-A VTA1 c.874G>A p.V292I Missense 8/8 -
6-144779908-G-A UTRN c.2287G>A p.G763S Missense 19/74 -
6-144844317-C-T UTRN c.5899C>T p.R1967W Missense 40/74 -
6-144854342-G-A UTRN c.6179G>A p.G2060D Missense 42/74 -
6-147136244-A-G ADGB c.4895A>G p.H1632R Missense 36/36 -
6-151672151-G-C AKAP12 c.2625G>C p.K875N Missense 4/5 -
6-151672151-G-T AKAP12 c.2625G>T p.K875N Missense 4/5 -
6-151672399-G-C AKAP12 c.2873G>C p.R958T Missense 4/5 -
6-151672774-C-T AKAP12 c.3248C>T p.A1083V Missense 4/5 -
6-151672812-G-A AKAP12 c.3286G>A p.V1096I Missense 4/5 -
6-151673589-G-A AKAP12 c.4063G>A p.E1355K Missense 4/5 -
6-151744739-T-G RMND1 c.858A>C p.E286D Missense 7/12 -
6-151744739-T-A RMND1 c.858A>T p.E286D Missense 7/12 -
6-151894567-G-A CCDC170 c.1033G>A p.E345K Missense 6/11 -
6-158349699-C-T SNX9 c.1253C>T p.T418M Missense 12/18 -
6-158923709-C-T TULP4 c.3014C>T p.P1005L Missense 13/14 -
6-159655190-G-A FNDC1 c.3646G>A p.D1216N Missense 11/23 -
6-166721108-G-T PRR18 c.523C>A p.L175I Missense 1/1 -
6-167752274-C-T TTLL2 c.187C>T p.P63S Missense 2/3 -
6-170627797-A-G FAM120B c.1319A>G p.Y440C Missense 2/11 -
7-1487384-C-G MICALL2 c.352G>C p.V118L Missense 4/17 -
7-1487384-C-A MICALL2 c.352G>T p.V118L Missense 4/17 -
7-2472455-A-T CHST12 c.181A>T p.T61S Missense 2/2 -
7-2692634-C-T TTYH3 c.1010C>T p.P337L Missense 9/14 -
7-3341304-G-A SDK1 c.86G>A p.R29Q Missense 1/45 -
7-4841308-C-T RADIL c.2818G>A p.G940S Missense 12/15 -
7-4900418-A-G PAPOLB c.1024T>C p.F342L Missense 1/1 -
7-4900416-A-T PAPOLB c.1026T>A p.F342L Missense 1/1 -
7-4900416-A-C PAPOLB c.1026T>G p.F342L Missense 1/1 -
7-4901191-T-C PAPOLB c.251A>G p.K84R Missense 1/1 -
7-5413923-C-T TNRC18 c.2992G>A p.A998T Missense 10/30 -
7-6189373-C-T USP42 c.1546C>T p.H516Y Missense 13/18 -
7-5983092-G-A RSPH10B c.1621C>T p.R541C Missense 15/21 -
7-16445813-G-A CRPPA c.407C>T p.A136V Missense 2/10 -
7-20193894-C-G MACC1 c.2268G>C p.K756N Missense 6/7 -
7-20193894-C-A MACC1 c.2268G>T p.K756N Missense 6/7 -
7-21813606-A-T DNAH11 c.9325A>T p.T3109S Missense 56/82 -
7-30538442-G-C GGCT c.400C>G p.P134A Missense 3/4 -
7-31855625-C-G PDE1C c.1726G>C p.V576L Missense 15/18 -
7-37053009-C-G ELMO1 c.1332G>C p.M444I Missense 16/22 -
7-37053009-C-T ELMO1 c.1332G>A p.M444I Missense 16/22 -
7-37053009-C-A ELMO1 c.1332G>T p.M444I Missense 16/22 -
7-40039097-C-T CDK13 c.2180C>T p.T727I Missense 4/14 -
7-43830880-A-G BLVRA c.167A>G p.Q56R Missense 4/8 -
7-44092484-G-C DBNL c.271G>C p.D91H Missense 4/13 -
7-44096482-G-A DBNL c.454G>A p.V152M Missense 5/13 -
7-44431978-T-C NUDCD3 c.893A>G p.D298G Missense 5/6 -
7-44611235-T-C DDX56 c.746A>G p.Y249C Missense 6/14 -
7-45125700-C-T NACAD c.79G>A p.D27N Missense 2/8 -
7-45144211-G-A TBRG4 c.833C>T p.A278V Missense 4/11 -
7-45753418-G-A ADCY1 c.3184G>A p.G1062S Missense 20/20 -
7-48318242-G-A ABCA13 c.7451G>A p.R2484K Missense 18/62 -
7-51096036-G-T COBL c.2757C>A p.H919Q Missense 10/13 -
7-51096036-G-C COBL c.2757C>G p.H919Q Missense 10/13 -
7-53103766-G-T POM121L12 c.402G>T p.W134C Missense 1/1 -
7-53103766-G-C POM121L12 c.402G>C p.W134C Missense 1/1 -
7-56125757-A-G CCT6A c.686A>G p.Y229C Missense 6/14 -
7-63809227-G-A ZNF736 c.986G>A p.S329N Missense 4/4 -
7-64452830-C-T ERV3-1 c.575G>A p.C192Y Missense 2/2 -
7-70800578-G-A GALNT17 c.281G>A p.R94Q Missense 2/11 -
7-78131047-G-A MAGI2 c.812C>T p.P271L Missense 5/22 -
7-82579610-C-T PCLO c.10294G>A p.D3432N Missense 6/25 -
7-82585758-G-C PCLO c.4511C>G p.T1504S Missense 5/25 -
7-82585759-T-A PCLO c.4510A>T p.T1504S Missense 5/25 -
7-82595233-G-A PCLO c.3871C>T p.P1291S Missense 4/25 -
7-82784588-C-T PCLO c.1369G>A p.G457R Missense 2/25 -
7-82784588-C-G PCLO c.1369G>C p.G457R Missense 2/25 -
7-86998764-A-G CROT c.620A>G p.H207R Missense 7/18 -
7-88963299-G-T ZNF804B c.1003G>T p.D335Y Missense 4/4 -
7-88964061-A-C ZNF804B c.1765A>C p.K589Q Missense 4/4 -
7-89891331-G-A CFAP69 c.317G>A p.R106H Missense 4/23 -
7-91603056-C-T AKAP9 c.80C>T p.S27L Missense 2/50 -
7-91855043-A-C KRIT1 c.1245T>G p.I415M Missense 12/19 -
7-94540527-G-A PPP1R9A c.1102G>A p.D368N Missense 2/20 -
7-98246958-C-T NPTX2 c.185C>T p.A62V Missense 1/5 -
7-98992084-C-T ARPC1B c.1091C>T p.S364L Missense 10/10 -
7-99630948-A-G ZKSCAN1 c.820A>G p.N274D Missense 6/6 -
7-99755343-C-T TRAPPC14 c.550G>A p.V184I Missense 3/11 -
7-100075358-G-A TSC22D4 c.304C>T p.P102S Missense 2/5 -
7-100137084-T-A AGFG2 c.115T>A p.C39S Missense 1/12 -
7-100137085-G-C AGFG2 c.116G>C p.C39S Missense 1/12 -
7-100806341-C-A VGF c.1784G>T p.R595L Missense 2/2 -
7-100817818-G-T NAT16 c.271C>A p.P91T Missense 2/4 -
7-101267298-G-C MYL10 c.175C>G p.L59V Missense 3/8 -
7-102939019-T-C PMPCB c.104T>C p.L35S Missense 2/13 -
7-111981007-G-A ZNF277 c.1090G>A p.V364M Missense 11/12 -
7-119915432-C-T KCND2 c.746C>T p.A249V Missense 1/6 -
7-121652919-G-T PTPRZ1 c.3819G>T p.L1273F Missense 12/30 -
7-121652919-G-C PTPRZ1 c.3819G>C p.L1273F Missense 12/30 -
7-127326788-A-C SND1 c.200A>C p.Q67P Missense 2/24 -
7-128480652-G-A FLNC c.1600G>A p.E534K Missense 10/48 -
7-131865473-G-A PLXNA4 c.3511C>T p.P1171S Missense 19/32 -
7-132193333-A-T PLXNA4 c.120T>A p.F40L Missense 2/32 -
7-132193333-A-C PLXNA4 c.120T>G p.F40L Missense 2/32 -
7-133812220-G-A LRGUK c.100G>A p.A34T Missense 1/20 -
7-139796755-C-G KDM7A c.2109G>C p.M703I Missense 16/20 -
7-139796755-C-T KDM7A c.2109G>A p.M703I Missense 16/20 -
7-139796755-C-A KDM7A c.2109G>T p.M703I Missense 16/20 -
7-148709346-T-C PDIA4 c.721A>G p.T241A Missense 5/10 -
7-148716209-A-G PDIA4 c.350T>C p.V117A Missense 3/10 -
7-150269542-G-C GIMAP4 c.384G>C p.E128D Missense 3/3 -
7-154767477-C-T PAXIP1 c.1003G>A p.V335I Missense 6/21 -
7-157202503-G-A DNAJB6 c.706G>A p.D236N Missense 9/10 -
8-2033500-C-T MYOM2 c.1622C>T p.P541L Missense 14/37 -
8-8235055-G-C PRAG1 c.864C>G p.C288W Missense 3/6 -
8-11702705-C-T CTSB c.949G>A p.D317N Missense 10/10 -
8-13424817-A-G C8orf48 c.317A>G p.K106R Missense 1/1 -
8-17228606-T-G MTMR7 c.250A>C p.I84L Missense 3/14 -
8-17228606-T-A MTMR7 c.250A>T p.I84L Missense 3/14 -
8-17794871-T-C PCM1 c.325T>C p.F109L Missense 4/39 -
8-17794873-C-A PCM1 c.327C>A p.F109L Missense 4/39 -
8-17794873-C-G PCM1 c.327C>G p.F109L Missense 4/39 -
8-18658878-G-T PSD3 c.1925C>A p.A642E Missense 7/16 -
8-21955034-C-T FHIP2B c.305C>T p.P102L Missense 4/17 -
8-22106646-G-A POLR3D c.745G>A p.V249I Missense 7/9 -
8-22168677-C-T PIWIL2 c.1853C>T p.A618V Missense 16/23 -
8-22481763-G-A BIN3 c.452C>T p.T151M Missense 7/9 -
8-24157589-A-G ADAM28 c.149A>G p.Q50R Missense 2/23 -
8-27151632-T-G TRIM35 c.727A>C p.M243L Missense 3/6 -
8-27151632-T-A TRIM35 c.727A>T p.M243L Missense 3/6 -
8-27925173-T-C NUGGC c.569A>G p.D190G Missense 6/19 -
8-28209314-C-T ZNF395 c.931G>A p.D311N Missense 7/10 -
8-28950348-C-T KIF13B c.4372G>A p.V1458M Missense 37/40 -
8-33246645-A-G FUT10 c.1048T>C p.Y350H Missense 4/5 -
8-37690649-G-A ADGRA2 c.1219G>A p.G407S Missense 9/19 -
8-37756662-G-T RAB11FIP1 c.298C>A p.L100I Missense 1/6 -
8-48878875-C-T MCM4 c.961C>T p.R321C Missense 9/17 -
8-54742078-T-C ATP6V1H c.232A>G p.I78V Missense 4/14 -
8-55055320-C-T MRPL15 c.527C>T p.T176I Missense 4/5 -
8-57026229-C-A MOS c.313G>T p.A105S Missense 1/1 -
8-59329457-A-G UBXN2B c.133A>G p.K45E Missense 2/8 -
8-67356832-C-G ADHFE1 c.202C>G p.L68V Missense 5/14 -
8-71646136-G-A XKR9 c.599G>A p.C200Y Missense 5/5 -
8-72967795-T-C TRPA1 c.1405A>G p.I469V Missense 12/27 -
8-74005129-G-T SBSPON c.174C>A p.F58L Missense 1/5 -
8-74005129-G-C SBSPON c.174C>G p.F58L Missense 1/5 -
8-75757392-C-T PI15 c.422C>T p.P141L Missense 4/6 -
8-79629586-C-T ZC2HC1A c.836C>T p.S279F Missense 9/9 -
8-80942341-C-G MRPS28 c.143G>C p.R48P Missense 1/3 -
8-82357149-A-G PMP2 c.149T>C p.I50T Missense 2/4 -
8-95861739-G-A INTS8 c.1310G>A p.G437E Missense 11/27 -
8-99101429-T-A ERICH5 c.184T>A p.L62I Missense 2/3 -
8-99101544-C-T ERICH5 c.299C>T p.S100F Missense 2/3 -
8-99161063-T-G POP1 c.1731T>G p.S577R Missense 13/16 -
8-99161063-T-A POP1 c.1731T>A p.S577R Missense 13/16 -
8-99161061-A-C POP1 c.1729A>C p.S577R Missense 13/16 -
8-101154066-G-A FBXO43 c.416C>T p.P139L Missense 2/5 -
8-110287630-T-C NUDCD1 c.1124A>G p.Q375R Missense 7/10 -
8-121354634-C-G COL14A1 c.4837C>G p.Q1613E Missense 44/48 -
8-124449466-C-T NTAQ1 c.400C>T p.R134C Missense 5/6 -
8-124664065-G-A KLHL38 c.1102C>T p.P368S Missense 2/4 -
8-126021519-A-G SQLE c.1042A>G p.I348V Missense 6/11 -
8-133187752-T-C KCNQ3 c.881A>G p.E294G Missense 5/15 -
8-134296524-C-T NDRG1 c.31G>A p.A11T Missense 2/16 -
8-139164523-T-C FAM135B c.2195A>G p.H732R Missense 13/20 -
8-143436034-A-G TSNARE1 c.52T>C p.F18L Missense 2/14 -
8-143436032-G-T TSNARE1 c.54C>A p.F18L Missense 2/14 -
8-143436032-G-C TSNARE1 c.54C>G p.F18L Missense 2/14 -
8-143747023-C-T JRK c.455G>A p.S152N Missense 2/3 -
8-144620810-G-C ZC3H3 c.727C>G p.L243V Missense 2/12 -
8-144671728-C-T EEF1D c.524G>A p.R175Q Missense 3/10 -
8-144671456-C-T EEF1D c.796G>A p.G266S Missense 3/10 -
8-144999565-C-T PLEC c.4532G>A p.R1511Q Missense 31/32 -
8-144999940-G-A PLEC c.4157C>T p.A1386V Missense 31/32 -
8-145108191-T-C OPLAH c.2792A>G p.Q931R Missense 20/28 -
8-145140496-C-T GPAA1 c.1472C>T p.P491L Missense 11/12 -
8-145662005-G-T TONSL c.1950C>A p.D650E Missense 16/26 -
8-145732180-G-T GPT c.1354G>T p.V452L Missense 10/11 -
8-145749942-G-C LRRC24 c.321C>G p.S107R Missense 3/5 -
8-145749942-G-T LRRC24 c.321C>A p.S107R Missense 3/5 -
8-145749944-T-G LRRC24 c.319A>C p.S107R Missense 3/5 -
9-730054-A-G KANK1 c.2702A>G p.N901S Missense 4/12 -
9-5832840-C-T ERMP1 c.188G>A p.G63D Missense 1/15 -
9-5832928-G-C ERMP1 c.100C>G p.R34G Missense 1/15 -
9-5906952-A-T MLANA c.242A>T p.H81L Missense 4/5 -
9-15571630-T-A CCDC171 c.50T>A p.I17N Missense 3/26 -
9-15578890-T-C CCDC171 c.221T>C p.V74A Missense 4/26 -
9-17340839-T-G CNTLN c.1659T>G p.D553E Missense 11/26 -
9-17340839-T-A CNTLN c.1659T>A p.D553E Missense 11/26 -
9-19058598-C-A HAUS6 c.2167G>T p.D723Y Missense 16/17 -
9-27292474-T-C EQTN c.301A>G p.N101D Missense 4/8 -
9-32633036-C-T TAF1L c.2542G>A p.D848N Missense 1/1 -
9-34256579-C-T KIF24 c.3026G>A p.R1009K Missense 11/13 -
9-34972352-G-A PHF24 c.388G>A p.D130N Missense 3/8 -
9-35811229-A-G SPAG8 c.814T>C p.Y272H Missense 2/7 -
9-35958056-C-T OR2S2 c.40G>A p.V14I Missense 1/1 -
9-36147798-A-C GLIPR2 c.29A>C p.H10P Missense 2/5 -
9-38577101-G-A ANKRD18A c.2690C>T p.A897V Missense 14/16 -
9-38595886-T-C ANKRD18A c.1451A>G p.N484S Missense 9/16 -
9-38596301-T-C ANKRD18A c.1036A>G p.N346D Missense 9/16 -
9-71549847-G-A PIP5K1B c.1243G>A p.A415T Missense 13/16 -
9-71851877-G-C TJP2 c.2004G>C p.M668I Missense 14/23 -
9-71851877-G-T TJP2 c.2004G>T p.M668I Missense 14/23 -
9-71862965-C-T TJP2 c.2705C>T p.S902F Missense 19/23 -
9-74360234-C-T CEMIP2 c.734G>A p.R245K Missense 4/24 -
9-74840668-G-A GDA c.790G>A p.V264M Missense 8/14 -
9-75542082-A-G ALDH1A1 c.454T>C p.F152L Missense 5/13 -
9-75542080-A-T ALDH1A1 c.456T>A p.F152L Missense 5/13 -
9-75542080-A-C ALDH1A1 c.456T>G p.F152L Missense 5/13 -
9-79002397-C-T RFK c.386G>A p.R129Q Missense 4/4 -
9-79319874-C-A PRUNE2 c.7316G>T p.S2439I Missense 8/19 -
9-79320439-T-G PRUNE2 c.6751A>C p.I2251L Missense 8/19 -
9-79320439-T-A PRUNE2 c.6751A>T p.I2251L Missense 8/19 -
9-79324955-C-G PRUNE2 c.2235G>C p.M745I Missense 8/19 -
9-79324955-C-T PRUNE2 c.2235G>A p.M745I Missense 8/19 -
9-79324955-C-A PRUNE2 c.2235G>T p.M745I Missense 8/19 -
9-79438584-T-C PRUNE2 c.720A>G p.I240M Missense 6/19 -
9-79465455-C-T PRUNE2 c.268G>A p.D90N Missense 3/19 -
9-79908273-G-A VPS13A c.3356G>A p.G1119E Missense 32/72 -
9-86495276-C-T KIF27 c.2579G>A p.R860Q Missense 11/18 -
9-90345935-A-C CTSL c.915A>C p.E305D Missense 8/8 -
9-90345935-A-T CTSL c.915A>T p.E305D Missense 8/8 -
9-95480915-G-A BICD2 c.2012C>T p.A671V Missense 5/7 -
9-105767074-C-T CYLC2 c.278C>T p.A93V Missense 4/8 -
9-107379798-A-G OR13C9 c.688T>C p.S230P Missense 1/1 -
9-108230553-G-T FSD1L c.287G>T p.S96I Missense 4/14 -
9-111678508-C-T ELP1 c.934G>A p.E312K Missense 10/37 -
9-113013717-G-A TXN c.50C>T p.A17V Missense 2/5 -
9-114304105-G-A ZNF483 c.890G>A p.G297D Missense 6/6 -
9-114341122-G-A PTGR1 c.605C>T p.T202I Missense 7/10 -
9-114341221-A-G PTGR1 c.506T>C p.V169A Missense 7/10 -
9-116187302-C-G C9orf43 c.811C>G p.P271A Missense 9/14 -
9-117354865-A-C ATP6V1G1 c.116A>C p.E39A Missense 2/3 -
9-119460579-G-T TRIM32 c.558G>T p.Q186H Missense 2/2 -
9-119460579-G-C TRIM32 c.558G>C p.Q186H Missense 2/2 -
9-123586913-T-G PSMD5 c.865A>C p.I289L Missense 7/10 -
9-124088908-C-G GSN c.1535C>G p.T512S Missense 13/18 -
9-124088907-A-T GSN c.1534A>T p.T512S Missense 13/18 -
9-124089635-A-G GSN c.1637A>G p.K546R Missense 14/18 -
9-124089692-C-T GSN c.1694C>T p.T565M Missense 14/18 -
9-125782737-A-G RABGAP1 c.1793A>G p.K598R Missense 13/26 -
9-129854069-G-A ANGPTL2 c.1162C>T p.P388S Missense 4/5 -
9-129854107-C-T ANGPTL2 c.1124G>A p.R375H Missense 4/5 -
9-130656852-C-T ST6GALNAC6 c.236G>A p.R79Q Missense 4/7 -
9-130889953-C-G PTGES2 c.44G>C p.G15A Missense 1/7 -
9-131285907-C-T GLE1 c.679C>T p.R227C Missense 6/16 -
9-131343207-G-A SPTAN1 c.1330G>A p.V444I Missense 11/57 -
9-136217563-G-A RPL7A c.607G>A p.A203T Missense 6/8 -
9-138395969-A-G MRPS2 c.881A>G p.H294R Missense 4/4 -
9-138439806-C-T OBP2A c.367C>T p.R123C Missense 4/7 -
9-139244192-G-A GPSM1 c.1432G>A p.V478I Missense 11/14 -
9-139282289-T-C SNAPC4 c.1135A>G p.M379V Missense 11/23 -
9-139702095-C-T CCDC183 c.1558C>T p.R520W Missense 14/14 -
9-139733736-C-T RABL6 c.1556C>T p.P519L Missense 12/15 -
9-139934887-G-A NPDC1 c.710C>T p.P237L Missense 7/9 -
9-139992294-T-G MAN1B1 c.635T>G p.V212G Missense 5/13 -
9-140095048-G-A TPRN c.116C>T p.P39L Missense 1/4 -
9-140173320-C-A TOR4A c.179C>A p.P60Q Missense 2/2 -
9-140396121-A-G PNPLA7 c.1532T>C p.V511A Missense 15/35 -
9-140441302-C-A PNPLA7 c.253G>T p.G85C Missense 4/35 -
9-140772434-G-A CACNA1B c.49G>A p.G17S Missense 1/47 -
10-1043174-A-G GTPBP4 c.487A>G p.T163A Missense 5/17 -
10-1279718-C-G ADARB2 c.1431G>C p.E477D Missense 6/10 -
10-1279718-C-A ADARB2 c.1431G>T p.E477D Missense 6/10 -
10-5435783-G-T TUBAL3 c.1038C>A p.H346Q Missense 4/4 -
10-5435783-G-C TUBAL3 c.1038C>G p.H346Q Missense 4/4 -
10-5931230-C-G ANKRD16 c.88G>C p.G30R Missense 1/8 -
10-11505743-G-A USP6NL c.1184C>T p.P395L Missense 15/15 -
10-11912065-C-G PROSER2 c.968C>G p.P323R Missense 4/4 -
10-12595329-A-G CAMK1D c.198A>G p.I66M Missense 2/11 -
10-18270341-A-G SLC39A12 c.1025A>G p.Q342R Missense 6/13 -
10-24922388-T-C ARHGAP21 c.383A>G p.N128S Missense 6/26 -
10-26463443-C-T MYO3A c.4250C>T p.T1417I Missense 30/35 -
10-27057895-T-C ABI1 c.605A>G p.E202G Missense 6/11 -
10-30315355-T-C JCAD c.3722A>G p.E1241G Missense 3/4 -
10-30317039-A-G JCAD c.2038T>C p.S680P Missense 3/4 -
10-31137481-C-T ZNF438 c.1853G>A p.G618D Missense 6/7 -
10-43318572-T-C BMS1 c.3139T>C p.F1047L Missense 20/23 -
10-43318574-T-A BMS1 c.3141T>A p.F1047L Missense 20/23 -
10-43318574-T-G BMS1 c.3141T>G p.F1047L Missense 20/23 -
10-45480356-G-A RASSF4 c.469G>A p.G157S Missense 6/11 -
10-46121607-T-C ZFAND4 c.1664A>G p.K555R Missense 7/10 -
10-50901840-C-T C10orf53 c.118C>T p.H40Y Missense 2/3 -
10-50901934-A-C C10orf53 c.212A>C p.E71A Missense 2/3 -
10-61831290-T-C ANK3 c.9349A>G p.I3117V Missense 37/44 -
10-61831984-G-C ANK3 c.8655C>G p.H2885Q Missense 37/44 -
10-68688019-A-G LRRTM3 c.1345A>G p.M449V Missense 2/3 -
10-70661195-G-A DDX50 c.55G>A p.E19K Missense 1/15 -
10-72434602-C-T ADAMTS14 c.373C>T p.R125W Missense 2/22 -
10-73832011-C-T SPOCK2 c.250G>A p.D84N Missense 4/11 -
10-79745881-T-C POLR3A c.2938A>G p.I980V Missense 22/31 -
10-81927002-C-T ANXA11 c.629G>A p.R210Q Missense 6/16 -
10-87966145-C-T GRID1 c.496G>A p.V166I Missense 3/16 -
10-88730271-G-A ADIRF c.163G>A p.D55N Missense 3/3 -
10-90983509-T-G LIPA c.754A>C p.I252L Missense 7/10 -
10-90983509-T-A LIPA c.754A>T p.I252L Missense 7/10 -
10-94654755-A-C EXOC6 c.390A>C p.E130D Missense 4/22 -
10-94654755-A-T EXOC6 c.390A>T p.E130D Missense 4/22 -
10-94714427-C-G EXOC6 c.1567C>G p.L523V Missense 16/22 -
10-97154830-T-C SORBS1 c.1225A>G p.T409A Missense 14/33 -
10-98369519-G-A PIK3AP1 c.2120C>T p.T707M Missense 14/17 -
10-99683022-T-C CRTAC1 c.557A>G p.K186R Missense 4/15 -
10-99696059-C-T CRTAC1 c.289G>A p.V97I Missense 3/15 -
10-101147692-G-A CNNM1 c.2456G>A p.R819Q Missense 8/11 -
10-102770514-T-C PDZD7 c.2132A>G p.H711R Missense 15/17 -
10-102782113-A-T PDZD7 c.572T>A p.V191E Missense 5/17 -
10-103920505-AG-CC NOLC1 c.1396_1397delAGinsCC p.S466P Missense 10/13 -
10-104176471-C-T PSD c.325G>A p.A109T Missense 2/17 -
10-104497484-C-A SFXN2 c.934C>A p.L312I Missense 12/12 -
10-105038008-A-G INA c.1040A>G p.H347R Missense 1/3 -
10-105164845-G-C PDCD11 c.469G>C p.G157R Missense 5/36 -
10-105178380-G-A PDCD11 c.2095G>A p.E699K Missense 15/36 -
10-105184991-C-T PDCD11 c.3014C>T p.P1005L Missense 20/36 -
10-106130801-G-A CFAP58 c.1079G>A p.G360E Missense 7/18 -
10-108337303-A-C SORCS1 c.3382T>G p.L1128V Missense 26/26 -
10-112572607-G-T RBM20 c.2452G>T p.A818S Missense 9/14 -
10-114177616-G-C ACSL5 c.1231G>C p.G411R Missense 14/21 -
10-115489187-A-C CASP7 c.800A>C p.D267A Missense 7/7 -
10-116014752-G-T VWA2 c.206G>T p.R69M Missense 4/14 -
10-118434357-C-T HSPA12A c.1963G>A p.A655T Missense 12/12 -
10-120810725-G-C EIF3A c.2305C>G p.Q769E Missense 15/22 -
10-124595830-A-G CUZD1 c.854T>C p.I285T Missense 6/9 -
10-126172791-G-A LHPP c.209G>A p.R70K Missense 2/7 -
10-129868686-A-G PTPRE c.1265A>G p.D422G Missense 14/21 -
10-129905239-G-A MKI67 c.4865C>T p.P1622L Missense 13/15 -
10-134014422-G-A DPYSL4 c.1045G>A p.A349T Missense 10/14 -
10-134021576-C-T STK32C c.1399G>A p.E467K Missense 12/12 -
11-433867-G-A ANO9 c.152C>T p.A51V Missense 3/23 -
11-499066-C-T RNH1 c.563G>A p.R188H Missense 6/11 -
11-792640-C-T SLC25A22 c.500G>A p.R167Q Missense 7/10 -
11-1267727-T-C MUC5B c.9617T>C p.I3206T Missense 31/49 -
11-1775352-C-T CTSD c.844G>A p.G282R Missense 7/9 -
11-1775352-C-G CTSD c.844G>C p.G282R Missense 7/9 -
11-4944666-G-A OR51G1 c.904C>T p.R302C Missense 1/1 -
11-5290899-C-T HBE1 c.100G>A p.V34I Missense 2/3 -
11-6190854-C-T OR52B2 c.703G>A p.A235T Missense 1/1 -
11-6231210-G-A C11orf42 c.203G>A p.R68Q Missense 2/3 -
11-6231378-G-A C11orf42 c.371G>A p.R124H Missense 2/3 -
11-6459657-G-C HPX c.419C>G p.P140R Missense 5/10 -
11-6789294-G-C OR2AG2 c.895C>G p.R299G Missense 2/2 -
11-6789300-C-G OR2AG2 c.889G>C p.V297L Missense 2/2 -
11-6898789-G-A OR10A4 c.911G>A p.R304Q Missense 1/1 -
11-7509386-C-T OLFML1 c.158C>T p.T53M Missense 2/3 -
11-8728736-C-T DENND2B c.2467G>A p.A823T Missense 13/20 -
11-10483275-A-G AMPD3 c.209A>G p.E70G Missense 2/15 -
11-17544404-C-G USH1C c.946G>C p.E316Q Missense 12/27 -
11-34938249-A-C PDHX c.47A>C p.Y16S Missense 1/11 -
11-34938272-C-G PDHX c.70C>G p.R24G Missense 1/11 -
11-43427466-C-A TTC17 c.1726C>A p.L576M Missense 13/24 -
11-45671452-G-A CHST1 c.1022C>T p.T341I Missense 4/4 -
11-46702070-G-A ARHGAP1 c.787C>T p.L263F Missense 9/13 -
11-47656268-C-T MTCH2 c.325G>A p.V109I Missense 5/13 -
11-57069375-A-G TNKS1BP1 c.4877T>C p.V1626A Missense 9/12 -
11-57069568-T-C TNKS1BP1 c.4814A>G p.H1605R Missense 8/12 -
11-57076820-T-G TNKS1BP1 c.3365A>C p.Y1122S Missense 6/12 -
11-57427232-A-G CLP1 c.284A>G p.N95S Missense 2/3 -
11-57464253-G-A ZDHHC5 c.1030G>A p.D344N Missense 10/12 -
11-58346953-G-A ZFP91 c.199G>A p.A67T Missense 1/11 -
11-59420423-C-T PATL1 c.1190G>A p.R397Q Missense 10/19 -
11-59573986-T-C MRPL16 c.590A>G p.K197R Missense 4/4 -
11-59857292-G-T MS4A2 c.184G>T p.G62W Missense 2/7 -
11-60689534-C-T TMEM109 c.629C>T p.A210V Missense 4/4 -
11-61026652-G-T VWCE c.2363C>A p.T788K Missense 20/20 -
11-61959636-C-T SCGB1D1 c.164C>T p.A55V Missense 2/3 -
11-62038448-G-A SCGB2A2 c.151G>A p.D51N Missense 2/3 -
11-62285571-C-T AHNAK c.16318G>A p.V5440M Missense 5/5 -
11-62290719-A-G AHNAK c.11170T>C p.S3724P Missense 5/5 -
11-62290818-C-G AHNAK c.11071G>C p.V3691L Missense 5/5 -
11-62290818-C-A AHNAK c.11071G>T p.V3691L Missense 5/5 -
11-62293925-C-A AHNAK c.7964G>T p.G2655V Missense 5/5 -
11-62294309-C-T AHNAK c.7580G>A p.G2527D Missense 5/5 -
11-62296535-T-C AHNAK c.5354A>G p.D1785G Missense 5/5 -
11-62298068-A-G AHNAK c.3821T>C p.V1274A Missense 5/5 -
11-62397114-T-C GANAB c.1780A>G p.M594V Missense 15/24 -
11-62397965-C-T GANAB c.1399G>A p.V467I Missense 12/24 -
11-62474608-G-C BSCL2 c.60C>G p.D20E Missense 1/11 -
11-62474608-G-T BSCL2 c.60C>A p.D20E Missense 1/11 -
11-63999987-A-G DNAJC4 c.266A>G p.E89G Missense 3/6 -
11-64060618-G-T KCNK4 c.128G>T p.R43L Missense 2/7 -
11-64087269-G-A PRDX5 c.235G>A p.A79T Missense 2/6 -
11-64527211-A-C PYGM c.160T>G p.F54V Missense 1/20 -
11-64854812-G-A ZFPL1 c.653G>A p.R218Q Missense 7/8 -
11-64876836-G-A VPS51 c.1528G>A p.D510N Missense 6/10 -
11-64882810-G-A TM7SF2 c.917G>A p.G306E Missense 8/10 -
11-65164362-C-T FRMD8 c.674C>T p.P225L Missense 7/11 -
11-65305555-G-A SCYL1 c.2149G>A p.D717N Missense 16/18 -
11-65338363-C-A ZNRD2 c.178C>A p.L60I Missense 3/4 -
11-65349692-G-C EHBP1L1 c.1549G>C p.G517R Missense 9/19 -
11-65386284-G-A PCNX3 c.1451G>A p.R484Q Missense 6/35 -
11-65403651-C-G PCNX3 c.5466C>G p.H1822Q Missense 33/35 -
11-65416753-C-T SIPA1 c.2327C>T p.T776M Missense 10/16 -
11-65649682-C-T CTSW c.323C>T p.A108V Missense 4/10 -
11-66358274-A-C CCDC87 c.2213T>G p.L738R Missense 1/1 -
11-66360021-C-T CCDC87 c.466G>A p.A156T Missense 1/1 -
11-67184914-C-A CARNS1 c.40C>A p.P14T Missense 3/10 -
11-67842185-G-A CHKA c.629C>T p.P210L Missense 4/12 -
11-68512543-A-G TESMIN c.667T>C p.C223R Missense 4/10 -
11-70118489-G-A PPFIA1 c.211G>A p.V71I Missense 2/28 -
11-70271499-T-G CTTN c.1019T>G p.V340G Missense 13/18 -
11-75298468-A-C MAP6 c.2078T>G p.V693G Missense 4/4 -
11-75298917-C-G MAP6 c.1629G>C p.M543I Missense 4/4 -
11-75298917-C-T MAP6 c.1629G>A p.M543I Missense 4/4 -
11-75298917-C-A MAP6 c.1629G>T p.M543I Missense 4/4 -
11-75316901-T-C MAP6 c.1268A>G p.D423G Missense 3/4 -
11-75694476-A-G UVRAG c.745A>G p.N249D Missense 8/15 -
11-76890818-G-A MYO7A c.2405G>A p.R802H Missense 21/49 -
11-77412755-C-T RSF1 c.1519G>A p.A507T Missense 6/16 -
11-77921746-G-A USP35 c.2845G>A p.D949N Missense 10/11 -
11-85396271-C-G CCDC89 c.903G>C p.E301D Missense 1/1 -
11-85396271-C-A CCDC89 c.903G>T p.E301D Missense 1/1 -
11-93148179-T-C DEUP1 c.1537T>C p.C513R Missense 13/14 -
11-93803617-C-T HEPHL1 c.1141C>T p.R381C Missense 6/20 -
11-94352943-T-C PIWIL4 c.2186T>C p.I729T Missense 18/20 -
11-94760037-G-A KDM4E c.1316G>A p.R439H Missense 1/1 -
11-96117467-G-C CCDC82 c.445C>G p.Q149E Missense 4/10 -
11-96125196-T-G JRKL c.1383T>G p.S461R Missense 2/2 -
11-96125196-T-A JRKL c.1383T>A p.S461R Missense 2/2 -
11-96125194-A-C JRKL c.1381A>C p.S461R Missense 2/2 -
11-100061865-A-G CNTN5 c.1588A>G p.I530V Missense 14/25 -
11-102643636-C-A MMP10 c.1168G>T p.A390S Missense 8/10 -
11-107427543-C-T ALKBH8 c.316G>A p.V106M Missense 3/12 -
11-108032233-C-A NPAT c.3580G>T p.G1194C Missense 17/18 -
11-111624270-T-C PPP2R1B c.1061A>G p.K354R Missense 9/15 -
11-118307316-C-G KMT2A c.89C>G p.A30G Missense 1/36 -
11-118656770-G-T DDX6 c.191C>A p.T64N Missense 2/14 -
11-118922814-T-C HYOU1 c.1193A>G p.K398R Missense 11/26 -
11-119183093-C-T MCAM c.907G>A p.G303R Missense 8/16 -
11-119183093-C-G MCAM c.907G>C p.G303R Missense 8/16 -
11-119185677-T-C MCAM c.266A>G p.E89G Missense 3/16 -
11-119229758-T-C USP2 c.1148A>G p.N383S Missense 6/13 -
11-120833194-G-C GRIK4 c.2070G>C p.M690I Missense 18/21 -
11-120833194-G-A GRIK4 c.2070G>A p.M690I Missense 18/21 -
11-120833194-G-T GRIK4 c.2070G>T p.M690I Missense 18/21 -
11-122795644-C-G JHY c.904C>G p.Q302E Missense 4/9 -
11-124252963-A-T OR8B2 c.277T>A p.S93T Missense 2/2 -
11-124623847-T-C ESAM c.868A>G p.I290V Missense 7/7 -
11-124791314-T-C HEPACAM c.971A>G p.N324S Missense 7/7 -
11-124951719-G-A SLC37A2 c.802G>A p.G268S Missense 9/18 -
11-134029825-C-T NCAPD3 c.3829G>A p.G1277R Missense 29/35 -
11-134029825-C-G NCAPD3 c.3829G>C p.G1277R Missense 29/35 -
12-176140-C-G IQSEC3 c.92C>G p.T31S Missense 1/14 -
12-520944-G-A CCDC77 c.70G>A p.V24I Missense 4/13 -
12-1137217-A-G ERC1 c.148A>G p.S50G Missense 2/19 -
12-2908330-C-G FKBP4 c.591C>G p.N197K Missense 5/10 -
12-3728529-C-T CRACR2A c.1942G>A p.G648R Missense 18/20 -
12-3728529-C-G CRACR2A c.1942G>C p.G648R Missense 18/20 -
12-6646375-A-G GAPDH c.436A>G p.I146V Missense 6/9 -
12-8667856-T-G CLEC4D c.53T>G p.L18R Missense 2/6 -
12-13128263-C-G HEBP1 c.549G>C p.E183D Missense 4/4 -
12-13128263-C-A HEBP1 c.549G>T p.E183D Missense 4/4 -
12-15102799-C-G ARHGDIB c.202G>C p.V68L Missense 3/6 -
12-16510615-G-A MGST1 c.203G>A p.R68K Missense 3/4 -
12-26834858-G-A ITPR2 c.1358C>T p.A453V Missense 13/57 -
12-32137381-C-G RESF1 c.3492C>G p.D1164E Missense 4/6 -
12-32137381-C-A RESF1 c.3492C>A p.D1164E Missense 4/6 -
12-40422173-G-C SLC2A13 c.855C>G p.N285K Missense 3/10 -
12-40422173-G-T SLC2A13 c.855C>A p.N285K Missense 3/10 -
12-49994291-T-C FAM186B c.1132A>G p.M378V Missense 4/7 -
12-50190160-C-T NCKAP5L c.1483G>A p.G495S Missense 8/13 -
12-50727811-C-G FAM186A c.6579G>C p.M2193I Missense 5/8 -
12-50727811-C-A FAM186A c.6579G>T p.M2193I Missense 5/8 -
12-50744129-C-G FAM186A c.6486G>C p.R2162S Missense 4/8 -
12-50744129-C-A FAM186A c.6486G>T p.R2162S Missense 4/8 -
12-51068409-G-A DIP2B c.793G>A p.D265N Missense 6/38 -
12-52961980-C-T KRT74 c.1328G>A p.R443H Missense 7/9 -
12-52962050-G-A KRT74 c.1258C>T p.R420W Missense 7/9 -
12-52962167-T-C KRT74 c.1141A>G p.S381G Missense 7/9 -
12-52966249-T-A KRT74 c.674A>T p.D225V Missense 2/9 -
12-52994896-A-G KRT72 c.341T>C p.M114T Missense 1/9 -
12-53293585-C-A KRT8 c.955G>T p.A319S Missense 5/8 -
12-53497402-A-G SOAT2 c.41A>G p.E14G Missense 1/15 -
12-53663433-G-C ESPL1 c.707G>C p.R236T Missense 3/31 -
12-56532580-C-T ESYT1 c.2462C>T p.P821L Missense 23/31 -
12-57556220-G-C LRP1 c.2323G>C p.A775P Missense 14/89 -
12-57602950-C-G LRP1 c.12230C>G p.T4077R Missense 79/89 -
12-58128378-C-G AGAP2 c.1312G>C p.E438Q Missense 3/19 -
12-60168732-G-T SLC16A7 c.656G>T p.S219I Missense 5/6 -
12-64815144-A-G XPOT c.973A>G p.I325V Missense 9/25 -
12-69083373-G-A NUP107 c.161G>A p.R54Q Missense 3/28 -
12-75601481-G-T KCNC2 c.283C>A p.H95N Missense 2/5 -
12-83359384-C-T TMTC2 c.1730C>T p.T577M Missense 6/12 -
12-85450426-G-A LRRIQ1 c.1855G>A p.E619K Missense 8/27 -
12-93175790-G-A EEA1 c.3272C>T p.S1091L Missense 23/29 -
12-93196332-C-T EEA1 c.2518G>A p.E840K Missense 19/29 -
12-93245979-G-A EEA1 c.614C>T p.T205I Missense 8/29 -
12-101702003-T-C UTP20 c.2036T>C p.L679S Missense 18/62 -
12-101777351-G-A UTP20 c.7960G>A p.V2654I Missense 60/62 -
12-105150838-G-A CHST11 c.316G>A p.D106N Missense 3/3 -
12-105534127-A-G WASHC4 c.1508A>G p.H503R Missense 16/33 -
12-105759610-G-T C12orf75 c.97G>T p.D33Y Missense 3/6 -
12-106632873-A-C CKAP4 c.1738T>G p.L580V Missense 2/2 -
12-106633557-G-C CKAP4 c.1054C>G p.L352V Missense 2/2 -
12-108169293-C-A ASCL4 c.301C>A p.P100T Missense 1/1 -
12-108954862-G-C SART3 c.69C>G p.D23E Missense 1/19 -
12-108954862-G-T SART3 c.69C>A p.D23E Missense 1/19 -
12-111291296-A-G CCDC63 c.97A>G p.K33E Missense 3/12 -
12-112481521-C-T NAA25 c.2158G>A p.V720I Missense 18/24 -
12-113285527-C-A RPH3A c.110C>A p.P37H Missense 5/22 -
12-113321161-G-C RPH3A c.1390G>C p.V464L Missense 16/22 -
12-113440906-G-A OAS2 c.1178G>A p.R393Q Missense 6/10 -
12-113624763-C-T RITA1 c.212C>T p.S71L Missense 3/4 -
12-117691500-C-T NOS1 c.2591G>A p.G864D Missense 17/29 -
12-117705934-T-G NOS1 c.1855A>C p.M619L Missense 11/29 -
12-117749339-A-C NOS1 c.784T>G p.F262V Missense 3/29 -
12-120907309-T-A SRSF9 c.104A>T p.Y35F Missense 1/4 -
12-122186240-G-A TMEM120B c.197G>A p.R66H Missense 3/12 -
12-122669310-G-C LRRC43 c.395G>C p.R132P Missense 2/12 -
12-122864920-G-A CLIP1 c.80C>T p.T27M Missense 2/26 -
12-123661295-T-C MPHOSPH9 c.2396A>G p.H799R Missense 16/24 -
12-123706359-G-C MPHOSPH9 c.432C>G p.N144K Missense 5/24 -
12-123706359-G-T MPHOSPH9 c.432C>A p.N144K Missense 5/24 -
12-125561151-A-G AACS c.352A>G p.I118V Missense 3/18 -
12-133277860-G-A PXMP2 c.424G>A p.A142T Missense 4/5 -
12-133294371-A-G PGAM5 c.572A>G p.K191R Missense 4/6 -
13-19748038-C-T TUBA3C c.1318G>A p.V440M Missense 5/5 -
13-19751245-T-C TUBA3C c.878A>G p.N293S Missense 4/5 -
13-19753484-C-G TUBA3C c.223G>C p.V75L Missense 2/5 -
13-20425911-C-A ZMYM5 c.410G>T p.C137F Missense 3/8 -
13-20797262-C-T GJB6 c.358G>A p.D120N Missense 5/5 -
13-21715103-G-A SAP18 c.208G>A p.V70I Missense 2/4 -
13-25264761-C-T ATP12A c.701C>T p.T234M Missense 7/23 -
13-28004098-T-C GTF3A c.394T>C p.Y132H Missense 3/9 -
13-30110294-T-C SLC7A1 c.32A>G p.Q11R Missense 3/13 -
13-31231872-T-C USPL1 c.1658T>C p.I553T Missense 9/9 -
13-31232430-C-G USPL1 c.2216C>G p.S739C Missense 9/9 -
13-31713011-CC-AT HSPH1 c.2114_2115delGGinsAT p.R705H Missense 16/18 -
13-32332484-G-A RXFP2 c.184G>A p.A62T Missense 2/18 -
13-41814531-C-T MTRF1 c.736G>A p.G246S Missense 6/10 -
13-41894893-A-G NAA16 c.335A>G p.D112G Missense 4/20 -
13-42874690-G-A AKAP11 c.1808G>A p.R603H Missense 8/13 -
13-49848469-G-C CDADC1 c.1043G>C p.G348A Missense 6/10 -
13-80911504-T-C SPRY2 c.337A>G p.T113A Missense 2/2 -
13-100511247-G-A CLYBL c.382G>A p.V128I Missense 3/9 -
13-103401347-G-A CCDC168 c.1700C>T p.P567L Missense 4/4 -
13-103528048-C-T BIVM-ERCC5 c.4718C>T p.A1573V Missense 23/23 -
13-111156250-G-A COL4A2 c.4195G>A p.V1399I Missense 44/48 -
13-111176355-C-T RAB20 c.362G>A p.G121E Missense 2/2 -
13-111274631-GTG-ATC NAXD c.115_117delGTGinsATC p.V39I Missense 2/10 -
13-111335406-C-T CARS2 c.647G>A p.G216E Missense 6/15 -
13-111335479-T-C CARS2 c.574A>G p.N192D Missense 6/15 -
14-20876438-G-A TEP1 c.161C>T p.T54M Missense 2/55 -
14-20925270-G-A APEX1 c.560G>A p.R187H Missense 5/5 -
14-21862289-G-A CHD8 c.5665C>T p.R1889C Missense 32/38 -
14-23346317-G-A LRP10 c.1723G>A p.A575T Missense 7/7 -
14-24522940-C-G CARMIL3 c.63C>G p.S21R Missense 2/40 -
14-24522940-C-A CARMIL3 c.63C>A p.S21R Missense 2/40 -
14-24522938-A-C CARMIL3 c.61A>C p.S21R Missense 2/40 -
14-24546811-T-G CPNE6 c.1546T>G p.S516A Missense 16/17 -
14-24586567-G-A DCAF11 c.376G>A p.A126T Missense 4/15 -
14-24606543-A-G PSME1 c.149A>G p.N50S Missense 4/11 -
14-24798433-T-A ADCY4 c.1358A>T p.E453V Missense 10/25 -
14-31099738-A-G SCFD1 c.188A>G p.K63R Missense 3/25 -
14-31762635-T-C HEATR5A c.6017A>G p.K2006R Missense 36/36 -
14-31763142-T-G HEATR5A c.5788A>C p.I1930L Missense 35/36 -
14-31763142-T-A HEATR5A c.5788A>T p.I1930L Missense 35/36 -
14-39649802-G-A PNN c.889G>A p.V297M Missense 9/9 -
14-39901012-G-A FBXO33 c.355C>T p.P119S Missense 1/4 -
14-52481922-G-T NID2 c.3100C>A p.P1034T Missense 15/22 -
14-53385853-A-T FERMT2 c.379T>A p.C127S Missense 3/15 -
14-53385852-C-G FERMT2 c.380G>C p.C127S Missense 3/15 -
14-56108429-A-T KTN1 c.2123A>T p.K708I Missense 18/44 -
14-57700585-T-G EXOC5 c.731A>C p.N244T Missense 9/18 -
14-57948291-G-A CCDC198 c.481C>T p.R161C Missense 4/6 -
14-59950676-A-C L3HYPDH c.359T>G p.L120R Missense 1/5 -
14-60194357-C-A RTN1 c.1045G>T p.G349C Missense 3/9 -
14-60212912-C-T RTN1 c.529G>A p.E177K Missense 2/9 -
14-61788875-C-T PRKCH c.56C>T p.A19V Missense 1/14 -
14-64457747-C-G SYNE2 c.2560C>G p.Q854E Missense 21/116 -
14-64494308-C-G SYNE2 c.6511C>G p.L2171V Missense 43/116 -
14-64519392-A-C SYNE2 c.8761A>C p.K2921Q Missense 48/116 -
14-64898328-A-G MTHFD1 c.1390A>G p.I464V Missense 14/28 -
14-68123282-T-C VTI1B c.391A>G p.M131V Missense 4/6 -
14-68353784-G-C RAD51B c.619G>C p.V207L Missense 7/11 -
14-69369274-C-T ACTN1 c.682G>A p.V228I Missense 8/22 -
14-70038670-C-T CCDC177 c.1670G>A p.R557Q Missense 2/2 -
14-70418985-C-T SMOC1 c.230C>T p.P77L Missense 2/12 -
14-71109153-C-G TTC9 c.307C>G p.P103A Missense 1/3 -
14-72976936-G-A RGS6 c.1040G>A p.R347Q Missense 14/18 -
14-74036216-A-G ACOT2 c.272A>G p.E91G Missense 1/3 -
14-77229472-A-G VASH1 c.308A>G p.K103R Missense 1/7 -
14-77929028-T-C AHSA1 c.398T>C p.V133A Missense 4/9 -
14-86088238-C-T FLRT2 c.380C>T p.A127V Missense 2/2 -
14-91772264-C-A CCDC88C c.3202G>T p.A1068S Missense 19/30 -
14-91780445-G-A CCDC88C c.1715C>T p.S572L Missense 15/30 -
14-93398717-C-T CHGA c.811C>T p.R271W Missense 7/8 -
14-93399011-G-A CHGA c.1105G>A p.D369N Missense 7/8 -
14-93649713-T-C MOAP1 c.875A>G p.Q292R Missense 3/3 -
14-93649990-C-T MOAP1 c.598G>A p.V200I Missense 3/3 -
14-94394818-G-T FAM181A c.187G>T p.A63S Missense 2/2 -
14-102898363-C-T TECPR2 c.1315C>T p.P439S Missense 8/20 -
14-103574815-G-A EXOC3L4 c.1937G>A p.R646Q Missense 10/11 -
14-104194228-A-G ZFYVE21 c.335A>G p.K112R Missense 3/7 -
14-104452645-T-C TDRD9 c.1103T>C p.M368T Missense 8/36 -
14-105643046-C-G NUDT14 c.253G>C p.G85R Missense 4/5 -
15-29561869-T-G NSMCE3 c.41A>C p.Q14P Missense 1/1 -
15-32744768-G-A GOLGA8O c.233C>T p.P78L Missense 4/19 -
15-32925302-G-A ARHGAP11A c.1228G>A p.V410I Missense 9/12 -
15-33445809-C-A FMN1 c.1307G>T p.G436V Missense 4/21 -
15-38228620-G-T TMCO5A c.96G>T p.Q32H Missense 3/12 -
15-38228620-G-C TMCO5A c.96G>C p.Q32H Missense 3/12 -
15-40655845-C-G DISP2 c.139C>G p.P47A Missense 2/8 -
15-41991300-A-C MGA c.2131A>C p.I711L Missense 5/24 -
15-41991300-A-T MGA c.2131A>T p.I711L Missense 5/24 -
15-42149800-T-C SPTBN5 c.8335A>G p.K2779E Missense 50/68 -
15-42168400-C-T SPTBN5 c.4034G>A p.R1345H Missense 21/68 -
15-42169007-G-C SPTBN5 c.3851C>G p.T1284R Missense 19/68 -
15-42171483-G-A SPTBN5 c.3157C>T p.H1053Y Missense 16/68 -
15-42174812-G-T SPTBN5 c.2017C>A p.Q673K Missense 10/68 -
15-42235316-C-T EHD4 c.460G>A p.V154I Missense 3/6 -
15-42983572-G-A STARD9 c.9796G>A p.G3266S Missense 23/33 -
15-43817500-A-G MAP1A c.3829A>G p.T1277A Missense 4/6 -
15-43818926-C-T MAP1A c.5255C>T p.A1752V Missense 4/6 -
15-44849698-G-A EIF3J c.421G>A p.A141T Missense 6/8 -
15-45661601-G-A GATM c.407C>T p.T136M Missense 3/9 -
15-52060519-C-G TMOD2 c.187C>G p.P63A Missense 3/10 -
15-57745898-T-C CGNL1 c.2072T>C p.M691T Missense 7/19 -
15-57820861-A-G CGNL1 c.3049A>G p.M1017V Missense 13/19 -
15-57838308-T-G CGNL1 c.3644T>G p.V1215G Missense 18/19 -
15-59806496-G-T FAM81A c.659G>T p.G220V Missense 7/9 -
15-62174893-G-C VPS13C c.9526C>G p.R3176G Missense 69/85 -
15-62207911-A-G VPS13C c.8366T>C p.I2789T Missense 61/85 -
15-62246670-T-G VPS13C c.4249A>C p.I1417L Missense 38/85 -
15-62360366-C-G C2CD4A c.554C>G p.P185R Missense 2/2 -
15-63009832-G-A TLN2 c.2821G>A p.A941T Missense 21/56 -
15-63092900-G-C TLN2 c.6409G>C p.E2137Q Missense 47/56 -
15-64275867-C-T DAPK2 c.179G>A p.R60Q Missense 3/12 -
15-65684226-G-A IGDCC4 c.2216C>T p.P739L Missense 12/20 -
15-65684513-C-T IGDCC4 c.2081G>A p.R694Q Missense 11/20 -
15-65851028-G-A HACD3 c.380G>A p.R127H Missense 5/11 -
15-67528778-A-T AAGAB c.329T>A p.M110K Missense 3/10 -
15-68653946-C-T ITGA11 c.454G>A p.V152M Missense 5/30 -
15-72286923-C-T MYO9A c.1474G>A p.V492M Missense 10/42 -
15-72338423-G-A MYO9A c.482C>T p.T161I Missense 2/42 -
15-72954796-G-C GOLGA6B c.1051G>C p.V351L Missense 11/18 -
15-72954796-G-T GOLGA6B c.1051G>T p.V351L Missense 11/18 -
15-72954848-G-A GOLGA6B c.1103G>A p.R368Q Missense 11/18 -
15-73843370-A-G REC114 c.425A>G p.Q142R Missense 4/6 -
15-75969335-C-T CSPG4 c.5525G>A p.R1842Q Missense 10/10 -
15-78454050-T-G IDH3A c.417T>G p.D139E Missense 5/11 -
15-78461324-C-T IDH3A c.1078C>T p.R360C Missense 11/11 -
15-78562867-T-C DNAJA4 c.161T>C p.V54A Missense 2/7 -
15-78572717-A-G DNAJA4 c.1109A>G p.N370S Missense 7/7 -
15-79089098-C-T ADAMTS7 c.653G>A p.R218H Missense 4/24 -
15-79606186-G-A TMED3 c.256G>A p.D86N Missense 2/3 -
15-84700108-C-T ADAMTSL3 c.4678C>T p.R1560C Missense 28/30 -
15-90118867-C-T TICRR c.50C>T p.A17V Missense 1/22 -
15-90177033-G-A KIF7 c.2476C>T p.R826W Missense 12/19 -
15-101718402-T-A CHSY1 c.1600A>T p.I534L Missense 3/3 -
15-101718950-T-C CHSY1 c.1052A>G p.K351R Missense 3/3 -
15-101816797-G-C SELENOS c.160C>G p.R54G Missense 2/6 -
15-102264476-C-A TARS3 c.115G>T p.A39S Missense 1/19 -
16-216367-G-T HBM c.193G>T p.A65S Missense 2/3 -
16-256119-C-T LUC7L c.394G>A p.E132K Missense 5/10 -
16-597250-G-A CAPN15 c.412G>A p.E138K Missense 4/14 -
16-716270-C-T WDR90 c.4660C>T p.P1554S Missense 37/41 -
16-816464-A-G MSLN c.1204A>G p.N402D Missense 13/18 -
16-1748853-G-A JPT2 c.427G>A p.G143S Missense 5/5 -
16-1877558-G-A FAHD1 c.328G>A p.D110N Missense 1/1 -
16-1995589-C-T RPL3L c.1078G>A p.V360M Missense 9/10 -
16-2086427-G-A SLC9A3R2 c.517G>A p.G173S Missense 3/7 -
16-2230928-G-A CASKIN1 c.2441C>T p.T814I Missense 18/20 -
16-2235026-G-A CASKIN1 c.1250C>T p.T417M Missense 13/20 -
16-2259955-G-A BRICD5 c.434C>T p.S145F Missense 4/6 -
16-2301527-A-T ECI1 c.41T>A p.L14Q Missense 1/7 -
16-2546318-C-T TBC1D24 c.169C>T p.R57C Missense 2/8 -
16-2946698-C-G FLYWCH2 c.248C>G p.T83S Missense 3/4 -
16-2946697-A-T FLYWCH2 c.247A>T p.T83S Missense 3/4 -
16-3486996-C-T ZNF597 c.703G>A p.V235I Missense 4/4 -
16-3606938-C-G NLRC3 c.2157G>C p.K719N Missense 8/21 -
16-3712016-G-T TRAP1 c.1912C>A p.L638M Missense 16/18 -
16-4828087-C-T SEPTIN12 c.875G>A p.R292H Missense 9/10 -
16-8729106-G-A METTL22 c.637G>A p.G213R Missense 5/11 -
16-8729106-G-C METTL22 c.637G>C p.G213R Missense 5/11 -
16-9858502-C-G GRIN2A c.2899G>C p.V967L Missense 13/13 -
16-9858502-C-A GRIN2A c.2899G>T p.V967L Missense 13/13 -
16-10788294-G-A TEKT5 c.437C>T p.S146L Missense 1/7 -
16-15808876-C-G MYH11 c.5676G>C p.E1892D Missense 40/41 -
16-15808876-C-A MYH11 c.5676G>T p.E1892D Missense 40/41 -
16-19471571-G-A TMC5 c.1063G>A p.A355T Missense 6/22 -
16-21974134-C-A UQCRC2 c.442C>A p.R148S Missense 6/14 -
16-22826241-T-C HS3ST2 c.310T>C p.S104P Missense 1/2 -
16-24202451-C-A PRKCB c.1763C>A p.P588H Missense 16/17 -
16-24788645-T-G TNRC6A c.555T>G p.N185K Missense 5/25 -
16-27772880-G-A KATNIP c.3778G>A p.E1260K Missense 19/28 -
16-30199805-G-A CORO1A c.1189G>A p.V397I Missense 10/11 -
16-30566747-G-A ZNF764 c.992C>T p.A331V Missense 3/3 -
16-30581676-C-A ZNF688 c.392G>T p.S131I Missense 3/3 -
16-30753135-G-A TMEM265 c.71G>A p.R24H Missense 2/3 -
16-31089465-C-T ZNF646 c.1820C>T p.T607I Missense 2/3 -
16-47697618-A-G PHKB c.2309A>G p.Y770C Missense 24/31 -
16-56704429-G-A MT1H c.40G>A p.A14T Missense 2/3 -
16-57201066-T-G PSME3IP1 c.421A>C p.I141L Missense 5/7 -
16-57201066-T-A PSME3IP1 c.421A>T p.I141L Missense 5/7 -
16-57493600-G-A COQ9 c.835G>A p.D279N Missense 7/9 -
16-57493629-G-C COQ9 c.864G>C p.K288N Missense 7/9 -
16-57493629-G-T COQ9 c.864G>T p.K288N Missense 7/9 -
16-70954687-G-A HYDIN c.7592C>T p.A2531V Missense 46/86 -
16-57550293-C-T CCDC102A c.1331G>A p.R444Q Missense 7/9 -
16-58752439-C-T GOT2 c.589G>A p.D197N Missense 5/10 -
16-65016165-C-G CDH11 c.1039G>C p.V347L Missense 8/13 -
16-65016165-C-A CDH11 c.1039G>T p.V347L Missense 8/13 -
16-65022234-C-G CDH11 c.825G>C p.M275I Missense 7/13 -
16-65022234-C-A CDH11 c.825G>T p.M275I Missense 7/13 -
16-67221389-T-C EXOC3L1 c.779A>G p.H260R Missense 5/14 -
16-67264648-C-T FHOD1 c.2714G>A p.R905Q Missense 18/22 -
16-67325711-C-T KCTD19 c.2248G>A p.E750K Missense 13/16 -
16-67866443-C-T CENPT c.116G>A p.R39Q Missense 5/16 -
16-68026991-G-A DPEP2 c.125C>T p.A42V Missense 2/11 -
16-68405450-T-C SMPD3 c.635A>G p.Y212C Missense 3/9 -
16-70698094-G-A MTSS2 c.1730C>T p.A577V Missense 15/15 -
16-72130111-G-A DHX38 c.55G>A p.D19N Missense 2/27 -
16-72135487-C-T DHX38 c.1475C>T p.T492M Missense 11/27 -
16-74729356-G-C MLKL c.300C>G p.D100E Missense 2/11 -
16-74729356-G-T MLKL c.300C>A p.D100E Missense 2/11 -
16-77918617-G-A VAT1L c.995G>A p.R332Q Missense 7/9 -
16-81010073-C-T CMC2 c.157G>A p.V53I Missense 4/4 -
16-81056257-G-A CENPN c.587G>A p.R196Q Missense 7/11 -
16-83842969-C-G HSBP1 c.172C>G p.Q58E Missense 3/4 -
16-88787673-G-A PIEZO1 c.5569C>T p.P1857S Missense 39/51 -
16-88791458-G-A PIEZO1 c.4193C>T p.P1398L Missense 30/51 -
16-89813078-G-C FANCA c.3427C>G p.L1143V Missense 35/43 -
17-649779-T-C GEMIN4 c.1504A>G p.I502V Missense 2/2 -
17-685752-G-A MRM3 c.134G>A p.G45E Missense 1/4 -
17-1552519-C-T RILP c.404G>A p.R135Q Missense 3/8 -
17-1611317-A-G TLCD2 c.542T>C p.L181P Missense 4/4 -
17-1674434-C-G SERPINF1 c.395C>G p.P132R Missense 4/8 -
17-2203109-T-C SMG6 c.938A>G p.D313G Missense 2/19 -
17-3802943-G-A P2RX1 c.860C>T p.P287L Missense 8/12 -
17-4701042-G-A PSMB6 c.368G>A p.R123Q Missense 4/6 -
17-4796274-T-C MINK1 c.2312T>C p.V771A Missense 20/32 -
17-4908241-G-A KIF1C c.1111G>A p.A371T Missense 13/23 -
17-4925481-C-T KIF1C c.2105C>T p.T702I Missense 22/23 -
17-4925675-G-A KIF1C c.2299G>A p.G767R Missense 22/23 -
17-4925675-G-C KIF1C c.2299G>C p.G767R Missense 22/23 -
17-5266301-C-T RABEP1 c.1658C>T p.T553M Missense 10/18 -
17-5271763-G-C RABEP1 c.1884G>C p.M628I Missense 12/18 -
17-5271763-G-A RABEP1 c.1884G>A p.M628I Missense 12/18 -
17-5271763-G-T RABEP1 c.1884G>T p.M628I Missense 12/18 -
17-7320874-C-T NLGN2 c.2264C>T p.A755V Missense 7/7 -
17-7324877-G-A SPEM1 c.883G>A p.E295K Missense 3/3 -
17-7838453-C-T CNTROB c.584C>T p.T195I Missense 4/19 -
17-7950265-A-G ALOX15B c.1328A>G p.Q443R Missense 10/14 -
17-8159165-G-A PFAS c.617G>A p.R206H Missense 6/28 -
17-8393828-C-T MYH10 c.4714G>A p.V1572M Missense 35/43 -
17-9596450-G-A USP43 c.1360G>A p.G454R Missense 9/15 -
17-9596450-G-C USP43 c.1360G>C p.G454R Missense 9/15 -
17-9792903-G-A GLP2R c.1543G>A p.A515T Missense 13/13 -
17-10212619-G-C MYH13 c.5101C>G p.R1701G Missense 35/41 -
17-10402312-C-G MYH1 c.3963G>C p.R1321S Missense 29/40 -
17-10402312-C-A MYH1 c.3963G>T p.R1321S Missense 29/40 -
17-10404032-T-C MYH1 c.3776A>G p.Q1259R Missense 28/40 -
17-10404653-C-T MYH1 c.3512G>A p.R1171Q Missense 27/40 -
17-10536949-G-C MYH3 c.4606C>G p.L1536V Missense 33/41 -
17-11757744-C-A DNAH9 c.9932C>A p.A3311D Missense 50/69 -
17-17942293-C-T ATPAF2 c.35G>A p.G12E Missense 1/8 -
17-18135849-G-A LLGL1 c.220G>A p.D74N Missense 3/23 -
17-18141783-A-G LLGL1 c.2066A>G p.N689S Missense 16/23 -
17-18161947-A-G FLII c.58T>C p.F20L Missense 1/30 -
17-18161945-G-T FLII c.60C>A p.F20L Missense 1/30 -
17-18161945-G-C FLII c.60C>G p.F20L Missense 1/30 -
17-18220268-A-G SMCR8 c.1165A>G p.I389V Missense 1/2 -
17-18541968-A-G TBC1D28 c.245T>C p.L82P Missense 7/10 -
17-26900817-T-C ALDOC c.935A>G p.N312S Missense 8/9 -
17-26902006-G-C ALDOC c.343C>G p.P115A Missense 4/9 -
17-26919798-G-T SPAG5 c.464C>A p.T155K Missense 3/24 -
17-26971167-C-T KIAA0100 c.107G>A p.R36Q Missense 2/39 -
17-27893893-C-A ABHD15 c.92G>T p.R31L Missense 1/2 -
17-27943024-A-G CORO6 c.1232T>C p.L411P Missense 9/10 -
17-28380552-A-C EFCAB5 c.1580A>C p.Q527P Missense 10/23 -
17-29187451-A-T ATAD5 c.2957A>T p.E986V Missense 10/23 -
17-29226348-T-G TEFM c.922A>C p.I308L Missense 4/4 -
17-29226348-T-A TEFM c.922A>T p.I308L Missense 4/4 -
17-32647357-A-T CCL8 c.146A>T p.E49V Missense 2/3 -
17-33491164-A-G UNC45B c.1130A>G p.K377R Missense 9/20 -
17-34956121-G-A DHRS11 c.604G>A p.E202K Missense 5/7 -
17-35311114-G-T AATF c.739G>T p.A247S Missense 4/12 -
17-35932057-T-C SYNRG c.931A>G p.M311V Missense 9/22 -
17-36714562-G-A SRCIN1 c.2102C>T p.A701V Missense 11/19 -
17-37343130-A-G CACNB1 c.467T>C p.V156A Missense 5/14 -
17-38416827-G-A WIPF2 c.104G>A p.R35Q Missense 3/8 -
17-39119986-C-T KRT39 c.601G>A p.G201S Missense 3/7 -
17-39661394-G-A KRT13 c.409C>T p.R137C Missense 1/8 -
17-40010572-G-A KLHL11 c.1547C>T p.T516I Missense 2/2 -
17-40341909-G-A GHDC c.1405C>T p.R469C Missense 10/10 -
17-40729267-C-G PSMC3IP c.189G>C p.K63N Missense 3/8 -
17-40729267-C-A PSMC3IP c.189G>T p.K63N Missense 3/8 -
17-42433931-C-A FAM171A2 c.465G>T p.Q155H Missense 4/8 -
17-42433931-C-G FAM171A2 c.465G>C p.Q155H Missense 4/8 -
17-42750898-A-C MEIOC c.2622A>C p.R874S Missense 7/8 -
17-45682880-T-C NPEPPS c.2057T>C p.I686T Missense 17/23 -
17-45699143-G-C NPEPPS c.2617G>C p.E873Q Missense 23/23 -
17-47284735-T-C GNGT2 c.50A>G p.Q17R Missense 3/4 -
17-47295162-A-G ABI3 c.347A>G p.Q116R Missense 3/8 -
17-51901703-C-G KIF2B c.1309C>G p.R437G Missense 1/1 -
17-54969585-T-C TRIM25 c.1369A>G p.I457V Missense 9/9 -
17-55189893-A-C AKAP1 c.2017A>C p.K673Q Missense 5/11 -
17-56385284-C-G TSPOAP1 c.4750G>C p.A1584P Missense 23/32 -
17-56436127-C-T RNF43 c.1010G>A p.R337Q Missense 9/10 -
17-66267480-G-T SLC16A6 c.821C>A p.P274H Missense 5/6 -
17-66397585-A-G ARSG c.1297A>G p.I433V Missense 11/12 -
17-72306291-G-A DNAI2 c.1483G>A p.V495I Missense 11/14 -
17-73627650-C-T RECQL5 c.1328G>A p.R443Q Missense 9/20 -
17-74942512-C-T MGAT5B c.1903C>T p.H635Y Missense 16/18 -
17-76115435-G-A TMC6 c.1754C>T p.P585L Missense 14/20 -
17-78055757-C-T CCDC40 c.1889C>T p.A630V Missense 12/20 -
17-78321904-A-G RNF213 c.9769A>G p.I3257V Missense 29/68 -
17-79514129-G-A FAAP100 c.1979C>T p.P660L Missense 5/9 -
17-79517729-G-A FAAP100 c.791C>T p.A264V Missense 3/9 -
17-79804328-G-C P4HB c.1033C>G p.R345G Missense 7/11 -
17-80046994-C-T FASN c.2155G>A p.E719K Missense 14/43 -
18-346546-G-A COLEC12 c.1076C>T p.T359M Missense 5/10 -
18-751739-T-G YES1 c.337A>C p.K113Q Missense 3/12 -
18-2595443-G-C NDC80 c.1044G>C p.E348D Missense 11/17 -
18-2595443-G-T NDC80 c.1044G>T p.E348D Missense 11/17 -
18-3079208-TCC-GCT MYOM1 c.4615_4617delGGAinsAGC p.G1539S Missense 34/38 -
18-3135692-T-A MYOM1 c.2062A>T p.T688S Missense 15/38 -
18-5397128-G-A EPB41L3 c.2770C>T p.R924C Missense 18/23 -
18-5397377-C-T EPB41L3 c.2521G>A p.V841M Missense 18/23 -
18-5397383-G-A EPB41L3 c.2515C>T p.P839S Missense 18/23 -
18-5397404-A-C EPB41L3 c.2494T>G p.S832A Missense 18/23 -
18-6993673-T-C LAMA1 c.4975A>G p.I1659V Missense 35/63 -
18-8636320-A-G RAB12 c.586A>G p.I196V Missense 5/6 -
18-13049020-A-G CEP192 c.2230A>G p.K744E Missense 16/45 -
18-18564484-T-A ROCK1 c.2317A>T p.T773S Missense 20/33 -
18-22020467-T-G IMPACT c.375T>G p.D125E Missense 6/11 -
18-22020467-T-A IMPACT c.375T>A p.D125E Missense 6/11 -
18-23731896-G-A PSMA8 c.304G>A p.D102N Missense 3/7 -
18-28991349-A-G DSG4 c.2293A>G p.T765A Missense 15/16 -
18-29126057-C-T DSG2 c.2708C>T p.T903I Missense 15/15 -
18-29450901-C-T TRAPPC8 c.2245G>A p.A749T Missense 15/29 -
18-31187565-A-G ASXL3 c.62A>G p.E21G Missense 2/12 -
18-44559904-C-G ELOA2 c.1732G>C p.V578L Missense 1/1 -
18-46163049-C-T CTIF c.245C>T p.P82L Missense 3/12 -
18-47317912-G-A ACAA2 c.811C>T p.H271Y Missense 7/10 -
18-47318626-T-C ACAA2 c.649A>G p.M217V Missense 6/10 -
18-47463727-G-A MYO5B c.1793C>T p.P598L Missense 15/40 -
18-55253824-G-C FECH c.29C>G p.A10G Missense 1/11 -
18-57000469-T-G LMAN1 c.1228A>C p.M410L Missense 11/13 -
18-60232248-A-G ZCCHC2 c.1765A>G p.K589E Missense 11/14 -
18-61078799-G-C VPS4B c.40C>G p.L14V Missense 2/11 -
18-61305261-T-G SERPINB4 c.865A>C p.M289L Missense 8/8 -
18-61305261-T-A SERPINB4 c.865A>T p.M289L Missense 8/8 -
18-61323259-A-T SERPINB3 c.805T>A p.W269R Missense 8/8 -
18-61323259-A-G SERPINB3 c.805T>C p.W269R Missense 8/8 -
18-63511111-G-A CDH7 c.1045G>A p.D349N Missense 7/12 -
18-66542006-G-T CCDC102B c.1037G>T p.C346F Missense 5/8 -
18-66564514-G-C CCDC102B c.1112G>C p.R371T Missense 6/8 -
18-76754962-G-T SALL3 c.2971G>T p.A991S Missense 2/3 -
19-623546-A-G POLRMT c.1198T>C p.F400L Missense 6/21 -
19-623544-A-T POLRMT c.1200T>A p.F400L Missense 6/21 -
19-623544-A-C POLRMT c.1200T>G p.F400L Missense 6/21 -
19-630130-C-T POLRMT c.232G>A p.V78M Missense 3/21 -
19-727021-G-A PALM c.71G>A p.R24Q Missense 3/9 -
19-731180-C-T PALM c.355C>T p.R119W Missense 5/9 -
19-1615796-G-A TCF3 c.1475C>T p.A492V Missense 17/19 -
19-1828152-G-T REXO1 c.636C>A p.H212Q Missense 2/16 -
19-1828152-G-C REXO1 c.636C>G p.H212Q Missense 2/16 -
19-1978927-G-C CSNK1G2 c.517G>C p.V173L Missense 6/12 -
19-1978927-G-T CSNK1G2 c.517G>T p.V173L Missense 6/12 -
19-2076974-T-G MOB3A c.460A>C p.K154Q Missense 4/5 -
19-2252626-C-T JSRP1 c.698G>A p.R233Q Missense 7/7 -
19-2435039-C-T LMNB2 c.815G>A p.R272Q Missense 5/12 -
19-3651960-G-A PIP5K1C c.991C>T p.R331C Missense 8/18 -
19-3821408-G-A ZFR2 c.1561C>T p.R521C Missense 10/19 -
19-4311977-C-T FSD1 c.629C>T p.P210L Missense 7/13 -
19-4312042-C-G FSD1 c.694C>G p.L232V Missense 7/13 -
19-4714275-G-A DPP9 c.131C>T p.A44V Missense 4/22 -
19-4852061-C-T PLIN3 c.601G>A p.D201N Missense 5/8 -
19-4859631-G-T PLIN3 c.319C>A p.L107I Missense 4/8 -
19-5215417-C-T PTPRS c.4201G>A p.D1401N Missense 28/38 -
19-5692192-C-T LONP1 c.2731G>A p.V911I Missense 18/18 -
19-5694903-C-G LONP1 c.2023G>C p.V675L Missense 14/18 -
19-5694903-C-A LONP1 c.2023G>T p.V675L Missense 14/18 -
19-5711910-C-T LONP1 c.742G>A p.D248N Missense 4/18 -
19-6141593-T-G ACSBG2 c.39T>G p.D13E Missense 2/15 -
19-6141593-T-A ACSBG2 c.39T>A p.D13E Missense 2/15 -
19-6222277-G-A MLLT1 c.965C>T p.S322F Missense 6/12 -
19-6432112-G-A SLC25A41 c.311C>T p.A104V Missense 2/7 -
19-6452423-C-T SLC25A23 c.971G>A p.R324H Missense 8/10 -
19-6913707-C-T ADGRE1 c.1166C>T p.T389M Missense 11/21 -
19-7676901-C-A CAMSAP3 c.1522C>A p.P508T Missense 11/17 -
19-7677440-C-G CAMSAP3 c.2061C>G p.D687E Missense 11/17 -
19-7677440-C-A CAMSAP3 c.2061C>A p.D687E Missense 11/17 -
19-7677658-C-T CAMSAP3 c.2279C>T p.A760V Missense 11/17 -
19-8381489-T-G NDUFA7 c.142A>C p.K48Q Missense 3/4 -
19-8400551-C-G KANK3 c.160G>C p.E54Q Missense 3/11 -
19-8973559-T-C MUC16 c.42757A>G p.T14253A Missense 77/84 -
19-9024871-C-T MUC16 c.36991G>A p.E12331K Missense 16/84 -
19-9060541-C-T MUC16 c.26905G>A p.V8969M Missense 3/84 -
19-9090314-C-T MUC16 c.1501G>A p.G501R Missense 1/84 -
19-9090314-C-G MUC16 c.1501G>C p.G501R Missense 1/84 -
19-10363251-A-C MRPL4 c.149A>C p.K50T Missense 3/9 -
19-10883157-C-T DNM2 c.238C>T p.H80Y Missense 3/21 -
19-11492737-G-A EPOR c.296C>T p.A99V Missense 3/8 -
19-11541831-C-T ODAD3 c.254G>A p.R85Q Missense 2/13 -
19-13015347-G-A SYCE2 c.265C>T p.H89Y Missense 3/6 -
19-13041131-G-T FARSA c.409C>A p.Q137K Missense 4/13 -
19-13059563-G-A RAD23A c.536G>A p.R179Q Missense 5/9 -
19-13409696-C-A CACNA1A c.2751G>T p.E917D Missense 19/47 -
19-13411451-T-G CACNA1A c.2192A>C p.E731A Missense 18/47 -
19-14040896-G-A CC2D1A c.2716G>A p.A906T Missense 27/29 -
19-14271040-C-T ADGRL1 c.1684G>A p.A562T Missense 8/23 -
19-15234344-G-A ILVBL c.179C>T p.A60V Missense 3/16 -
19-15586705-G-A PGLYRP2 c.776C>T p.T259M Missense 2/5 -
19-15662199-A-C CYP4F22 c.1513A>C p.K505Q Missense 14/14 -
19-15760887-T-C CYP4F3 c.812T>C p.I271T Missense 7/13 -
19-16472751-C-T EPS15L1 c.2425G>A p.E809K Missense 23/24 -
19-17305607-A-G MYO9B c.3371A>G p.E1124G Missense 22/40 -
19-17622737-G-A PGLS c.256G>A p.D86N Missense 1/5 -
19-18278023-C-T PIK3R2 c.1643C>T p.A548V Missense 13/16 -
19-19042798-C-T HOMER3 c.677G>A p.R226Q Missense 7/10 -
19-19744988-C-T GMIP c.2096G>A p.R699Q Missense 19/21 -
19-19747795-G-C GMIP c.1168C>G p.P390A Missense 12/21 -
19-23926428-C-T ZNF681 c.1924G>A p.G642S Missense 4/4 -
19-33119742-C-T ANKRD27 c.1223G>A p.G408D Missense 14/29 -
19-33183191-G-A NUDT19 c.325G>A p.D109N Missense 1/3 -
19-34706531-A-G LSM14A c.746A>G p.N249S Missense 6/10 -
19-34890208-C-G GPI c.1366C>G p.P456A Missense 15/18 -
19-34957830-C-T UBA2 c.1652C>T p.P551L Missense 16/17 -
19-35084467-G-C SCGB2B2 c.284C>G p.A95G Missense 3/3 -
19-36206203-T-G ZBTB32 c.675T>G p.S225R Missense 3/7 -
19-36206203-T-A ZBTB32 c.675T>A p.S225R Missense 3/7 -
19-36206201-A-C ZBTB32 c.673A>C p.S225R Missense 3/7 -
19-38810700-G-A KCNK6 c.110G>A p.R37Q Missense 1/3 -
19-39208597-C-G ACTN4 c.1174C>G p.Q392E Missense 11/21 -
19-39384148-T-A SIRT2 c.132A>T p.L44F Missense 4/16 -
19-39384148-T-G SIRT2 c.132A>C p.L44F Missense 4/16 -
19-40330874-G-A FBL c.377C>T p.S126L Missense 4/9 -
19-40331117-G-A FBL c.220C>T p.R74W Missense 3/9 -
19-40408821-C-A FCGBP c.4018G>T p.V1340L Missense 8/36 -
19-41073863-C-T SPTBN4 c.6631C>T p.P2211S Missense 31/36 -
19-41074162-G-C SPTBN4 c.6930G>C p.M2310I Missense 31/36 -
19-41074162-G-A SPTBN4 c.6930G>A p.M2310I Missense 31/36 -
19-41074162-G-T SPTBN4 c.6930G>T p.M2310I Missense 31/36 -
19-42231159-G-C CEACAM5 c.2032G>C p.G678R Missense 9/10 -
19-42744253-G-C GSK3A c.325C>G p.Q109E Missense 2/11 -
19-42910322-C-T LIPE c.2356G>A p.A786T Missense 7/10 -
19-43766044-C-A PSG9 c.677G>T p.S226I Missense 3/6 -
19-43766088-A-C PSG9 c.633T>G p.I211M Missense 3/6 -
19-43990795-G-A PHLDB3 c.1394C>T p.A465V Missense 12/16 -
19-44031269-C-A ETHE1 c.61G>T p.A21S Missense 1/7 -
19-44103288-C-T ZNF576 c.391C>T p.R131C Missense 3/3 -
19-44130315-C-T CADM4 c.625G>A p.G209R Missense 5/9 -
19-44130315-C-G CADM4 c.625G>C p.G209R Missense 5/9 -
19-44515492-T-A ZNF230 c.1301T>A p.F434Y Missense 5/5 -
19-44660897-G-A ZNF234 c.728G>A p.R243H Missense 6/6 -
19-44777087-G-A ZNF233 c.274G>A p.E92K Missense 5/5 -
19-44896570-C-T ZNF285 c.76G>A p.D26N Missense 3/4 -
19-44933919-T-A ZNF229 c.1037A>T p.D346V Missense 6/6 -
19-45375164-C-T NECTIN2 c.533C>T p.T178M Missense 3/9 -
19-45406310-G-A TOMM40 c.970G>A p.V324M Missense 9/9 -
19-45815163-G-A CKM c.497C>T p.T166M Missense 5/8 -
19-46289009-G-A DMWD c.1745C>T p.A582V Missense 3/5 -
19-46518651-A-G CCDC61 c.811A>G p.T271A Missense 7/14 -
19-46997522-C-T PNMA8B c.1201G>A p.V401I Missense 1/1 -
19-47768128-G-C CCDC9 c.645G>C p.E215D Missense 7/12 -
19-47768128-G-T CCDC9 c.645G>T p.E215D Missense 7/12 -
19-48593639-T-G PLA2G4C c.745A>C p.I249L Missense 8/17 -
19-48848554-C-T TMEM143 c.427G>A p.D143N Missense 4/8 -
19-49120041-G-A RPL18 c.239C>T p.A80V Missense 4/7 -
19-49424482-G-T NUCB1 c.1074G>T p.E358D Missense 11/13 -
19-49535834-G-A CGB2 c.83G>A p.R28H Missense 2/3 -
19-50037608-G-C RCN3 c.401G>C p.G134A Missense 3/7 -
19-50250707-C-T TSKS c.602G>A p.R201Q Missense 5/11 -
19-50780082-C-A MYH14 c.3749C>A p.A1250E Missense 29/43 -
19-50780084-G-T MYH14 c.3751G>T p.A1251S Missense 29/43 -
19-51172526-G-T SHANK1 c.2691C>A p.D897E Missense 23/24 -
19-51871194-C-T CLDND2 c.256G>A p.D86N Missense 2/4 -
19-51961257-C-T