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

3834 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-22150120-C-T LDLRAD2 c.*1412C>T - 3-UTRSNV 5/5 -
1-226026406-A-G EPHX1 c.416A>G p.H139R Missense 4/9 -
3-123457893-G-A MYLK c.439C>T p.P147S Missense 7/34 -
7-55229255-G-A EGFR c.1562G>A p.R521K Missense 13/28 -
5-7878179-C-T MTRR c.524C>T p.S175L Missense 5/15 -
6-46672943-A-G PLA2G7 c.1136T>C p.V379A Missense 11/12 -
19-50905310-G-A POLD1 c.518G>A p.S173N Missense 5/27 -
1-196642233-G-A CFH c.184G>A p.V62I Missense 2/22 -
4-72618323-G-T GC c.1307C>A p.T436K Missense 11/13 -
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 -
11-67250676-G-A AIP c.47G>A p.R16H Missense 1/6 -
12-53069014-T-C KRT1 c.1898A>G p.K633R Missense 9/9 -
20-44642406-G-C MMP9 c.1721G>C p.R574P Missense 10/13 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
9-90322023-G-A DAPK1 c.4037G>A p.S1346N Missense 26/26 -
19-10395683-A-G ICAM1 c.1405A>G p.K469E Missense 6/7 -
9-136302010-C-T ADAMTS13 c.1370C>T p.P457L Missense 12/29 -
21-45107562-T-C RRP1B c.1307T>C p.L436P Missense 13/16 -
2-234183368-A-G ATG16L1 c.898A>G p.T300A Missense 9/18 -
11-20805286-G-A NELL1 c.245G>A p.R82Q Missense 3/20 -
5-256509-G-A SDHA c.1969G>A p.V657I Missense 15/15 -
1-110466555-G-A CSF1 c.1312G>A p.G438R Missense 6/9 -
14-93399101-C-T CHGA c.1195C>T p.R399W Missense 7/8 -
1-89522646-G-C GBP1 c.1046C>G p.T349S Missense 7/11 -
19-8326904-G-A CERS4 c.1096G>A p.A366T Missense 12/12 -
9-127262802-C-G NR5A1 c.437G>C p.G146A Missense 4/7 -
15-90213229-G-C PLIN1 c.580C>G p.P194A Missense 5/9 -
4-71888240-C-T DCK c.364C>T p.P122S Missense 3/7 -
2-86400824-G-A IMMT c.370C>T p.P124S Missense 4/15 -
10-106027059-G-A GSTO1 c.622G>A p.E208K Missense 6/6 -
10-106022789-C-A GSTO1 c.419C>A p.A140D Missense 4/6 -
5-78421959-G-A BHMT c.716G>A p.R239Q Missense 6/8 -
11-17418477-C-A ABCC8 c.4105G>T p.A1369S Missense 33/39 -
4-24801315-G-A SOD3 c.172G>A p.A58T Missense 2/2 -
18-9117867-T-C NDUFV2 c.86T>C p.V29A Missense 2/8 -
1-110279701-C-T GSTM3 c.670G>A p.V224I Missense 9/9 -
17-42989063-C-T GFAP c.883G>A p.D295N Missense 5/9 -
11-66360021-C-T CCDC87 c.466G>A p.A156T Missense 1/1 -
6-52767205-T-G GSTA3 c.211A>C p.I71L Missense 4/7 -
9-135786904-A-G TSC1 c.965T>C p.M322T Missense 10/23 -
15-86124946-T-C AKAP13 c.3647T>C p.M1216T Missense 7/37 -
22-44335885-A-G PNPLA3 c.992A>G p.E331G Missense 7/9 -
8-67380528-T-C ADHFE1 c.1345T>C p.C449R Missense 14/14 -
10-81926702-G-A ANXA11 c.688C>T p.R230C Missense 7/16 -
1-182551337-A-C RNASEL c.1623T>G p.D541E Missense 4/7 -
14-20925154-T-A APEX1 c.444T>A p.D148E Missense 5/5 -
7-107834613-G-C NRCAM c.1633C>G p.P545A Missense 17/33 -
7-111981007-G-A ZNF277 c.1090G>A p.V364M Missense 11/12 -
1-117487711-T-A PTGFRN c.829T>A p.S277T Missense 3/9 -
10-87484382-C-T GRID1 c.1585G>A p.V529I Missense 11/16 -
7-82582846-C-T PCLO c.7423G>A p.V2475I Missense 5/25 -
11-102713620-T-C MMP3 c.133A>G p.K45E Missense 2/10 -
6-94120639-T-C EPHA7 c.412A>G p.I138V Missense 3/17 -
2-160112881-G-T WDSUB1 c.958C>A p.R320S Missense 9/11 -
2-169847329-T-C ABCB11 c.890A>G p.E297G Missense 9/28 -
19-49658209-A-C HRC c.286T>G p.S96A Missense 1/6 -
20-60887581-G-A LAMA5 c.9235C>T p.R3079W Missense 68/80 -
16-12060163-A-G TNFRSF17 c.242A>G p.N81S Missense 2/3 -
10-131557525-A-G MGMT c.427A>G p.I143V Missense 5/5 -
11-71726168-G-C NUMA1 c.2381C>G p.A794G Missense 15/27 -
20-5903323-G-A CHGB c.533G>A p.R178Q Missense 4/5 -
3-108147728-T-C MYH15 c.3373A>G p.T1125A Missense 28/42 -
4-95496882-C-T PDLIM5 c.407C>T p.S136F Missense 5/13 -
7-134889141-G-A WDR91 c.770C>T p.P257L Missense 6/15 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
1-153431406-C-G S100A7 c.84G>C p.E28D Missense 2/3 -
6-161807855-C-G PRKN c.1138G>C p.V380L Missense 10/12 -
2-152139416-G-A NMI c.47C>T p.S16L Missense 2/8 -
11-124793682-T-C HEPACAM c.652A>G p.M218V Missense 3/7 -
12-7022085-T-A LRRC23 c.950T>A p.V317E Missense 7/8 -
7-95041016-G-C PON2 c.443C>G p.A148G Missense 5/9 -
4-38774889-T-C TLR10 c.2323A>G p.I775V Missense 4/4 -
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 -
16-89628073-G-A RPL13 c.334G>A p.A112T Missense 4/6 -
22-43558972-G-A TSPO c.485G>A p.R162H Missense 4/4 -
1-236702210-A-G LGALS8 c.166A>G p.M56V Missense 4/10 -
10-88722398-A-T SNCG c.329A>T p.E110V Missense 4/5 -
16-3724465-G-C TRAP1 c.919C>G p.R307G Missense 9/18 -
9-139616742-A-G FAM69B c.472A>G p.S158G Missense 4/5 -
5-96124330-T-C ERAP1 c.1583A>G p.K528R Missense 11/19 -
17-4720469-C-T PLD2 c.1730C>T p.T577I Missense 17/25 -
6-24503590-C-T ALDH5A1 c.538C>T p.H180Y Missense 3/10 -
3-45588912-G-A LARS2 c.2602G>A p.E868K Missense 22/22 -
19-10475652-C-A TYK2 c.1084G>T p.V362F Missense 8/25 -
12-121622196-A-G P2RX7 c.1379A>G p.Q460R Missense 13/13 -
1-76378502-G-A MSH4 c.2741G>A p.S914N Missense 20/20 -
18-33725931-G-A ELP2 c.913G>A p.V305M Missense 10/22 -
1-51826921-T-C EPS15 c.2466A>G p.I822M Missense 24/25 -
16-31336888-C-T ITGAM c.2573C>T p.A858V Missense 21/30 -
11-113270160-A-G ANKK1 c.1469A>G p.H490R Missense 8/8 -
6-41900406-C-T BYSL c.1276C>T p.P426S Missense 7/7 -
9-101056122-T-C GABBR2 c.2605A>G p.T869A Missense 18/19 -
2-100055506-A-G REV1 c.770T>C p.F257S Missense 6/23 -
19-51361472-C-A KLK3 c.394C>A p.L132I Missense 3/5 -
5-96118852-G-C ERAP1 c.2188C>G p.Q730E Missense 15/19 -
18-6986227-G-A LAMA1 c.5288C>T p.A1763V Missense 37/63 -
6-30041009-A-G RNF39 c.403T>C p.S135P missense_variant 3/4 -
2-168931636-C-T STK39 c.1195G>A p.A399T Missense 11/18 -
18-21140432-T-C NPC1 c.644A>G p.H215R Missense 6/25 -
14-94844947-C-T SERPINA1 c.1096G>A p.E366K Missense 5/5 -
17-35311114-G-T AATF c.739G>T p.A247S Missense 4/12 -
11-5246908-C-G HBB c.364G>C p.E122Q Missense 3/3 -
17-648186-G-A GEMIN4 c.3097C>T p.R1033C Missense 2/2 -
17-649935-G-C GEMIN4 c.1348C>G p.Q450E Missense 2/2 -
9-71843023-C-A TJP2 c.1446C>A p.D482E Missense 9/23 -
3-195800811-C-T TFRC c.424G>A p.G142S Missense 4/19 -
17-78079597-A-G GAA c.596A>G p.H199R Missense 3/20 -
17-78079669-G-A GAA c.668G>A p.R223H Missense 3/20 -
1-8045079-G-A PARK7 c.535G>A p.A179T Missense 7/7 -
4-6304133-G-A WFS1 c.2611G>A p.V871M Missense 8/8 -
5-33989518-C-T AMACR c.829G>A p.E277K Missense 5/5 -
5-33998883-A-G AMACR c.602T>C p.L201S Missense 4/5 -
19-14038791-C-T CC2D1A c.2402C>T p.T801M Missense 23/29 -
17-42990750-C-G GFAP c.667G>C p.E223Q Missense 4/9 -
5-78135241-C-T ARSB c.1151G>A p.S384N Missense 6/8 -
19-41510282-A-G CYP2B6 c.415A>G p.K139E Missense 3/9 -
6-38650628-T-G GLO1 c.332A>C p.E111A Missense 4/6 -
10-7618686-T-G ITIH5 c.1708A>C p.T570P Missense 10/15 -
9-111659483-T-A ELP1 c.2446A>T p.I816L Missense 23/37 -
1-89582690-G-C GBP2 c.853C>G p.P285A Missense 6/11 -
16-4033436-T-C ADCY9 c.2316A>G p.I772M Missense 7/11 -
19-50713713-C-A MYH14 c.91C>A p.P31T Missense 2/43 -
16-15820863-C-T MYH11 c.3700G>A p.A1234T Missense 28/41 -
1-150484987-G-A ECM1 c.1243G>A p.G415S Missense 8/10 -
15-101718950-T-C CHSY1 c.1052A>G p.K351R Missense 3/3 -
20-25282967-C-T ABHD12 c.1045G>A p.A349T Missense 12/13 -
2-219526649-G-A BCS1L c.628G>A p.D210N Missense 4/8 -
6-24291203-T-C DCDC2 c.661A>G p.S221G Missense 5/10 -
1-40775937-G-A COL9A2 c.737C>T p.T246M Missense 14/32 -
1-100964667-A-G CDC14A c.1604A>G p.Q535R Missense 15/16 -
6-45916999-G-T CLIC5 c.293C>A p.P98H Missense 3/6 -
7-45753418-G-A ADCY1 c.3184G>A p.G1062S Missense 20/20 -
15-101718402-T-A CHSY1 c.1600A>T p.I534L Missense 3/3 -
13-60566644-T-C DIAPH3 c.1088A>G p.N363S Missense 10/28 -
2-170072887-G-C LRP2 c.5702C>G p.A1901G Missense 35/79 -
1-160011280-C-T KCNJ10 c.1043G>A p.R348H Missense 2/2 -
7-24758818-G-T GSDME c.424C>A p.P142T Missense 4/10 -
19-12772090-C-T MAN2B1 c.1010G>A p.R337Q Missense 7/24 -
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 -
10-102770514-T-C PDZD7 c.2132A>G p.H711R Missense 15/17 -
3-142402975-T-C PLS1 c.707T>C p.V236A Missense 7/16 -
2-55872538-T-C PNPT1 c.1768A>G p.N590D Missense 22/28 -
10-102782113-A-T PDZD7 c.572T>A p.V191E Missense 5/17 -
10-26463443-C-T MYO3A c.4250C>T p.T1417I Missense 30/35 -
11-76890818-G-A MYO7A c.2405G>A p.R802H Missense 21/49 -
3-193334991-G-A OPA1 c.473G>A p.S158N Missense 4/31 -
2-55912120-T-C PNPT1 c.361A>G p.I121V Missense 4/28 -
7-31855625-C-G PDE1C c.1726G>C p.V576L Missense 15/18 -
11-17544404-C-G USH1C c.946G>C p.E316Q Missense 12/27 -
9-140095048-G-A TPRN c.116C>T p.P39L Missense 1/4 -
9-117840255-A-C TNC c.2641T>G p.S881A Missense 7/28 -
1-215848645-T-C USH2A c.12608A>G p.Q4203R Missense 63/72 -
22-38151567-C-T TRIOBP c.5588C>T p.A1863V Missense 15/24 -
9-117846580-T-C TNC c.2039A>G p.Q680R Missense 4/28 -
16-2546318-C-T TBC1D24 c.169C>T p.R57C Missense 2/8 -
9-117848394-T-C TNC c.1616A>G p.Q539R Missense 3/28 -
9-71835842-C-A TJP2 c.382C>A p.Q128K Missense 5/23 -
9-71851040-C-G TJP2 c.1877C>G p.T626S Missense 13/23 -
9-71851877-G-A TJP2 c.2004G>A p.M668I Missense 14/23 -
9-71851877-G-C TJP2 c.2004G>C p.M668I Missense 14/23 -
14-20925154-T-G APEX1 c.444T>G p.D148E Missense 5/5 -
4-17640880-C-G FAM184B c.2659G>C p.E887Q Missense 14/18 -
5-82491684-T-G XRCC4 c.411T>G p.N137K Missense 4/8 -
6-109323519-G-T SESN1 c.307C>A p.L103I Missense 2/10 -
3-124462824-A-G UMPS c.1336A>G p.I446V Missense 6/6 -
11-34969112-A-G PDHX c.301A>G p.T101A Missense 3/11 -
1-16351275-A-G CLCNKA c.247A>G p.R83G Missense 4/20 -
14-94847415-A-G SERPINA1 c.710T>C p.V237A Missense 3/5 -
5-70900270-T-A MCCC2 c.599T>A p.I200N Missense 6/17 -
14-96777468-G-C ATG2B c.4147C>G p.Q1383E Missense 28/42 -
12-117705934-T-A NOS1 c.1855A>T p.M619L Missense 11/29 -
11-68562328-C-T CPT1A c.823G>A p.A275T Missense 8/19 -
16-89613123-A-G SPG7 c.1507A>G p.T503A Missense 11/17 -
6-151669875-A-G AKAP12 c.349A>G p.K117E Missense 4/5 -
4-9909923-G-A SLC2A9 c.1049C>T p.P350L Missense 8/12 -
4-114294537-G-A ANK2 c.11791G>A p.E3931K Missense 45/46 -
11-5255582-C-A HBD c.82G>T p.A28S Missense 1/3 -
3-195300740-C-T APOD c.226G>A p.V76M Missense 3/5 -
3-42906116-T-C ACKR2 c.122T>C p.V41A Missense 3/3 -
4-56319244-G-T CLOCK c.1183C>A p.L395I Missense 15/23 -
19-17837512-G-A MAP1S c.1319G>A p.C440Y Missense 5/7 -
19-50154904-A-C SCAF1 c.1258A>C p.T420P Missense 7/11 -
19-49994740-C-A RPL13A c.461C>A p.A154D Missense 7/8 -
19-34868776-T-C GPI c.623T>C p.I208T Missense 6/18 -
19-48954421-G-A GRWD1 c.956G>A p.R319Q Missense 6/7 -
19-39322087-T-G ECH1 c.122A>C p.E41A Missense 2/10 -
22-50722167-T-C PLXNB2 c.2434A>G p.T812A Missense 15/37 -
17-78078656-G-A GAA c.271G>A p.D91N Missense 2/20 -
3-128976451-C-G COPG1 c.718C>G p.L240V Missense 9/24 -
11-57076820-T-G TNKS1BP1 c.3365A>C p.Y1122S Missense 6/12 -
17-7366619-T-C ZBTB4 c.1682A>G p.N561S Missense 4/4 -
11-499066-C-T RNH1 c.563G>A p.R188H Missense 6/11 -
12-120954490-C-T COQ5 c.454G>A p.A152T Missense 3/7 -
12-121600253-T-C P2RX7 c.463T>C p.Y155H Missense 5/13 -
1-113162494-G-A CAPZA1 c.28G>A p.D10N Missense 1/10 -
19-45412314-T-A APOE c.761T>A p.V254E Missense 4/4 -
2-138759649-C-T HNMT c.314C>T p.T105I Missense 4/6 -
19-11350488-C-T ANGPTL8 c.175C>T p.R59W Missense 1/4 -
18-21112206-C-T NPC1 c.3797G>A p.R1266Q Missense 25/25 -
2-118732831-G-A CCDC93 c.683C>T p.P228L Missense 9/24 -
19-19329924-C-T NCAN c.274C>T p.P92S Missense 3/15 -
15-72509811-T-C PKM c.185A>G p.K62R Missense 3/11 -
12-121592689-T-C P2RX7 c.227T>C p.V76A Missense 2/13 -
22-41903841-C-G ACO2 c.220C>G p.L74V Missense 3/18 -
3-32860125-G-T TRIM71 c.553G>T p.A185S Missense 1/4 -
1-53676448-G-A CPT2 c.1102G>A p.V368I Missense 4/5 -
3-126733406-G-A PLXNA1 c.2690G>A p.R897H Missense 13/32 -
1-113456546-A-T SLC16A1 c.1470T>A p.D490E Missense 5/5 -
9-140638534-G-A EHMT1 c.1162G>A p.A388T Missense 6/27 -
20-39797465-T-C PLCG1 c.2438T>C p.I813T Missense 21/32 -
11-237087-A-G PSMD13 c.38A>G p.N13S Missense 1/13 -
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 -
7-91630620-G-T AKAP9 c.1389G>T p.M463I Missense 8/50 -
14-94847386-G-A SERPINA1 c.739C>T p.R247C Missense 3/5 -
4-1818625-T-C LETM1 c.1760A>G p.K587R Missense 12/14 -
6-30593485-C-G MRPS18B c.688C>G p.P230A Missense 7/7 -
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 -
7-4901191-T-C RADIL c.535+16045A>G - IntronicSNV - 2/14
4-95506837-A-G PDLIM5 c.832A>G p.T278A Missense 6/13 -
5-108714298-T-C PJA2 c.890A>G p.Q297R Missense 4/10 -
6-29910663-G-A HLA-A c.203G>A p.R68K Missense 2/8 -
6-29912856-A-T HLA-A c.1033A>T p.T345S Missense 6/8 -
6-126278230-G-C HINT3 c.107G>C p.G36A Missense 1/5 -
19-10742170-A-G SLC44A2 c.461A>G p.Q154R Missense 7/22 -
7-138764233-C-T ZC3HAV1 c.1454G>A p.R485K Missense 4/13 -
6-36922684-A-C PI16 c.148A>C p.T50P Missense 1/7 -
13-25000617-C-G PARP4 c.4966G>C p.A1656P Missense 33/34 -
1-217955553-G-A SPATA17 c.761G>A p.R254H Missense 8/11 -
7-86468254-G-A GRM3 c.1424G>A p.G475D Missense 4/6 -
6-151673589-G-A AKAP12 c.4063G>A p.E1355K Missense 4/5 -
6-151674326-A-C AKAP12 c.4800A>C p.E1600D Missense 4/5 -
8-10469233-A-G RP1L1 c.2375T>C p.L792P Missense 4/4 -
8-11995062-G-A USP17L2 c.1208C>T p.A403V Missense 1/1 -
6-151894567-G-A CCDC170 c.1033G>A p.E345K Missense 6/11 -
9-35712003-G-A TLN1 c.3680C>T p.S1227L Missense 28/57 -
9-114359624-C-A PTGR1 c.79G>T p.A27S Missense 2/10 -
6-126210395-T-G NCOA7 c.1195T>G p.S399A Missense 9/16 -
7-51097063-T-G COBL c.1730A>C p.D577A Missense 10/13 -
19-13409696-C-G CACNA1A c.2751G>C p.E917D Missense 19/47 -
11-68512543-A-G TESMIN c.667T>C p.C223R Missense 4/10 -
12-2908330-C-A FKBP4 c.591C>A p.N197K Missense 5/10 -
12-48526712-G-A PFKM c.299G>A p.R100Q Missense 5/23 -
12-50727811-C-T FAM186A c.6579G>A p.M2193I Missense 5/8 -
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 -
11-65403651-C-A PCNX3 c.5466C>A p.H1822Q Missense 33/35 -
11-46898771-T-C LRP4 c.3256A>G p.I1086V Missense 23/38 -
11-65547333-G-A AP5B1 c.631C>T p.L211F Missense 2/2 -
17-27893893-C-A ABHD15 c.92G>T p.R31L Missense 1/2 -
17-48628470-T-A SPATA20 c.1495T>A p.S499T Missense 12/17 -
17-46022065-G-A PNPO c.347G>A p.R116Q Missense 3/7 -
15-67528374-T-G AAGAB c.394A>C p.I132L Missense 4/10 -
16-4445327-C-T CORO7 c.578G>A p.R193Q Missense 7/28 -
15-90784250-T-C GDPGP1 c.110T>C p.M37T Missense 4/4 -
17-1686410-T-C SMYD4 c.2180A>G p.Y727C Missense 10/11 -
8-145057868-A-G PARP10 c.1889T>C p.V630A Missense 8/11 -
2-29240783-A-G TOGARAM2 c.1321A>G p.I441V Missense 10/20 -
17-38122680-G-T GSDMA c.382G>T p.V128L Missense 3/12 -
17-38122680-G-C GSDMA c.382G>C p.V128L Missense 3/12 -
14-64491695-T-C SYNE2 c.5906T>C p.M1969T Missense 40/116 -
21-47850484-G-C PCNT c.7977G>C p.Q2659H Missense 37/47 -
22-50319079-T-G CRELD2 c.883T>G p.S295A Missense 9/10 -
22-50728062-T-C PLXNB2 c.952A>G p.K318E Missense 3/37 -
3-391100-A-G CHL1 c.907A>G p.T303A Missense 10/28 -
15-102264304-G-C TARS3 c.287C>G p.A96G Missense 1/19 -
9-21818057-T-C MTAP c.203T>C p.M68T Missense 4/8 -
4-44682465-T-C GUF1 c.173T>C p.L58P Missense 2/17 -
4-178274835-A-C NEIL3 c.1413A>C p.Q471H Missense 8/10 -
6-79708000-A-C PHIP c.1988T>G p.V663G Missense 18/40 -
9-131565554-T-C TBC1D13 c.569T>C p.V190A Missense 8/12 -
19-9060541-C-T MUC16 c.26905G>A p.V8969M Missense 3/84 -
4-7716932-T-C SORCS2 c.2146T>C p.S716P Missense 17/27 -
6-80626375-T-C ELOVL4 c.895A>G p.M299V Missense 6/6 -
10-81923357-G-T ANXA11 c.962C>A p.T321N Missense 10/16 -
10-81927002-C-T ANXA11 c.629G>A p.R210Q Missense 6/16 -
11-46702070-G-A ARHGAP1 c.787C>T p.L263F Missense 9/13 -
18-346546-G-A COLEC12 c.1076C>T p.T359M Missense 5/10 -
19-3728464-G-C TJP3 c.34G>C p.A12P Missense 2/21 -
12-60173356-A-T SLC16A7 c.1333A>T p.T445S Missense 6/6 -
13-41382711-A-T SLC25A15 c.760A>T p.I254L Missense 6/7 -
16-29791575-C-G ZG16 c.339C>G p.D113E Missense 4/4 -
16-1822642-C-G MRPS34 c.327G>C p.L109F Missense 2/3 -
19-19136541-C-T SUGP2 c.616G>A p.G206S Missense 3/11 -
10-68040325-C-T CTNNA3 c.1787G>A p.S596N Missense 13/18 -
19-4859937-T-C PLIN3 c.166A>G p.I56V Missense 3/8 -
8-74005131-A-G SBSPON c.172T>C p.F58L Missense 1/5 -
3-58118555-G-A FLNB c.4411G>A p.V1471M Missense 26/46 -
22-29885016-G-A NEFH c.1387G>A p.E463K Missense 4/4 -
22-38074614-G-A LGALS1 c.214G>A p.E72K Missense 3/4 -
2-135744373-G-A MAP3K19 c.2069C>T p.S690L Missense 10/13 -
1-22165987-G-A HSPG2 c.9766C>T p.H3256Y Missense 73/97 -
2-183622547-T-G DNAJC10 c.1938T>G p.H646Q Missense 19/24 -
8-18080308-A-T NAT1 c.752A>T p.D251V Missense 3/3 -
1-226923938-A-C ITPKB c.1222T>G p.S408A Missense 2/8 -
12-53088484-C-T KRT77 c.1006G>A p.D336N Missense 5/9 -
19-56369189-G-A NLRP4 c.430G>A p.A144T Missense 3/10 -
15-83680287-A-G C15orf40 c.73T>C p.C25R Missense 1/4 -
1-158612236-A-G SPTA1 c.4702T>C p.C1568R Missense 33/52 -
11-74053547-C-T PGM2L1 c.1591G>A p.V531I Missense 12/14 -
9-130242166-A-G LRSAM1 c.952A>G p.N318D Missense 14/26 -
5-179290845-T-G TBC1D9B c.3305A>C p.K1102T Missense 21/21 -
9-74840668-G-A GDA c.790G>A p.V264M Missense 8/14 -
10-70645376-A-C STOX1 c.1824A>C p.E608D Missense 3/4 -
2-99992822-A-C EIF5B c.1565A>C p.K522T Missense 10/24 -
1-100575933-G-A SASS6 c.776C>T p.A259V Missense 8/17 -
16-88709828-A-G CYBA c.521T>C p.V174A Missense 6/6 -
1-183085755-A-G LAMC1 c.1372A>G p.I458V Missense 7/28 -
2-211060050-T-G ACADL c.997A>C p.K333Q Missense 9/11 -
10-25888180-A-G GPR158 c.3625A>G p.I1209V Missense 11/11 -
8-145729727-C-A GPT c.40C>A p.H14N Missense 1/11 -
3-52554304-G-C STAB1 c.5497G>C p.A1833P Missense 52/69 -
6-151672812-G-A AKAP12 c.3286G>A p.V1096I Missense 4/5 -
17-38122686-G-A GSDMA c.388G>A p.E130K Missense 3/12 -
4-186111639-T-C CFAP97 c.712A>G p.T238A Missense 2/5 -
11-11986061-T-C DKK3 c.1003A>G p.R335G Missense 7/7 -
22-19968971-G-A ARVCF c.659C>T p.P220L Missense 5/20 -
19-17316782-T-C MYO9B c.5078T>C p.V1693A Missense 32/40 -
4-10099340-T-C WDR1 c.553A>G p.I185V Missense 5/15 -
11-18267027-C-T SAA2 c.266G>A p.R89H Missense 4/4 -
3-186006618-G-C DGKG c.425C>G p.T142S Missense 6/25 -
6-24596478-T-G KIAA0319 c.424A>C p.T142P Missense 3/21 -
1-236706862-G-C LGALS8 c.552G>C p.R184S Missense 8/10 -
14-20876438-G-A TEP1 c.161C>T p.T54M Missense 2/55 -
1-11710561-T-G FBXO2 c.353A>C p.K118T Missense 2/6 -
8-124449466-C-T NTAQ1 c.400C>T p.R134C Missense 5/6 -
16-30408765-C-T ZNF48 c.194C>T p.A65V Missense 3/3 -
12-6711147-C-A CHD4 c.417G>T p.E139D Missense 4/40 -
7-29070209-G-A CPVL c.1304C>T p.A435V Missense 12/13 -
16-68344696-C-T SLC7A6OS c.134G>A p.G45D Missense 1/5 -
11-62439569-G-A UQCC3 c.265G>A p.G89S Missense 2/2 -
6-151670172-A-C AKAP12 c.646A>C p.K216Q Missense 4/5 -
4-84383810-C-T FAM175A c.1042G>A p.A348T Missense 9/9 -
13-42465713-C-T VWA8 c.494G>A p.R165H Missense 5/45 -
13-25029218-C-T PARP4 c.2695G>A p.A899T Missense 22/34 -
1-186321242-C-T TPR c.2335G>A p.V779I Missense 19/51 -
14-64522674-G-C SYNE2 c.9757G>C p.D3253H Missense 49/116 -
3-49701298-G-A BSN c.11587G>A p.A3863T Missense 8/12 -
2-236957822-G-A AGAP1 c.2011G>A p.V671I Missense 16/18 -
4-90169925-A-G GPRIN3 c.1337T>C p.V446A Missense 2/2 -
19-2278755-C-T PEAK3 c.440G>A p.R147H Missense 3/4 -
18-5397377-C-T EPB41L3 c.2521G>A p.V841M Missense 18/23 -
2-99812070-G-A MRPL30 c.388G>A p.A130T Missense 6/6 -
6-29911203-A-C HLA-A c.502A>C p.K168Q Missense 3/8 -
17-6406883-C-T PITPNM3 c.238G>A p.A80T Missense 4/20 -
6-31324516-C-A HLA-B c.292G>T p.D98Y Missense 2/8 -
12-123344021-G-A HIP1R c.2344G>A p.V782M Missense 23/32 -
9-79318998-A-G PRUNE2 c.7531T>C p.S2511P Missense 9/19 -
13-25008630-A-G PARP4 c.4649T>C p.L1550P Missense 31/34 -
9-131343207-G-A SPTAN1 c.1330G>A p.V444I Missense 11/57 -
11-433867-G-A ANO9 c.152C>T p.A51V Missense 3/23 -
15-86123988-G-A AKAP13 c.2689G>A p.V897M Missense 7/37 -
6-85473758-C-T TBX18 c.142G>A p.G48R Missense 1/8 -
2-191064753-C-T C2orf88 c.167C>T p.T56I Missense 2/2 -
14-105643046-C-T NUDT14 c.253G>A p.G85R Missense 4/5 -
2-157406249-G-A GPD2 c.791G>A p.R264H Missense 7/17 -
9-35870001-T-C OR13J1 c.398A>G p.H133R Missense 1/1 -
1-223567803-G-A CCDC185 c.986G>A p.G329D Missense 1/1 -
6-31322303-C-G HLA-B c.1046G>C p.C349S Missense 7/8 -
1-222803204-A-G MIA3 c.2642A>G p.E881G Missense 4/28 -
3-122060404-C-T CSTA c.287C>T p.T96M Missense 3/3 -
10-129907544-G-C MKI67 c.2560C>G p.L854V Missense 13/15 -
1-23419383-C-T LUZP1 c.1372G>A p.G458S Missense 4/5 -
1-19565344-C-G EMC1 c.1034G>C p.S345T Missense 10/23 -
13-25020863-G-A PARP4 c.3322C>T p.R1108C Missense 27/34 -
1-36886117-C-T OSCP1 c.919G>A p.G307R Missense 8/10 -
9-38396002-C-T ALDH1B1 c.257C>T p.A86V Missense 2/2 -
2-178417142-C-T TTC30B c.350G>A p.R117H Missense 1/1 -
1-27339103-G-T TENT5B c.59C>A p.T20K Missense 1/2 -
1-162367103-G-T SH2D1B c.366C>A p.N122K Missense 4/4 -
4-42020142-A-G SLC30A9 c.289A>G p.T97A Missense 3/18 -
1-226923505-G-T ITPKB c.1655C>A p.P552Q Missense 2/8 -
8-133053309-T-C OC90 c.439A>G p.S147G Missense 6/14 -
2-85554080-G-A TGOLN2 c.775C>T p.R259W Missense 2/4 -
11-75298468-A-C MAP6 c.2078T>G p.V693G Missense 4/4 -
6-31239090-G-C HLA-C c.379C>G p.L127V Missense 3/8 -
17-66246416-A-G AMZ2 c.88A>G p.N30D Missense 2/7 -
1-23418153-C-T LUZP1 c.2602G>A p.D868N Missense 4/5 -
15-72432583-A-G SENP8 c.619A>G p.T207A Missense 2/2 -
10-117075175-G-A ATRNL1 c.2966G>A p.S989N Missense 18/29 -
18-31320229-A-G ASXL3 c.2861A>G p.N954S Missense 11/12 -
11-67257823-C-A AIP c.682C>A p.Q228K Missense 5/6 -
3-194061906-T-C CPN2 c.1526A>G p.Q509R Missense 2/2 -
6-29012067-C-T OR2W1 c.886G>A p.D296N Missense 1/1 -
4-96106322-A-G UNC5C c.2162T>C p.M721T Missense 13/16 -
1-1387764-G-A ATAD3C c.172G>A p.G58R Missense 3/12 -
3-13395579-C-A NUP210 c.2357G>T p.R786L Missense 17/40 -
17-79173184-T-C CEP131 c.1189A>G p.T397A Missense 10/26 -
4-88416188-G-T SPARCL1 c.146C>A p.A49D Missense 3/11 -
1-23419374-G-T LUZP1 c.1381C>A p.Q461K Missense 4/5 -
2-85622059-T-C CAPG c.1004A>G p.H335R Missense 10/10 -
2-61575308-A-G USP34 c.1982T>C p.M661T Missense 15/80 -
20-61512606-T-C DIDO1 c.4702A>G p.T1568A Missense 16/16 -
7-134618710-A-G CALD1 c.1190A>G p.H397R Missense 5/15 -
9-271638-C-T DOCK8 c.65C>T p.A22V Missense 2/48 -
1-93620393-G-A TMED5 c.524C>T p.T175I Missense 4/4 -
16-4945687-G-T PPL c.1003C>A p.L335M Missense 10/22 -
1-236413230-T-A ERO1B c.386A>T p.D129V Missense 5/16 -
10-51827934-G-A WASHC2A c.73G>A p.V25M Missense 2/31 -
7-89854446-T-G STEAP2 c.50T>G p.F17C Missense 3/6 -
22-24038847-T-C RGL4 c.1133T>C p.V378A Missense 7/11 -
16-88787673-G-A PIEZO1 c.5569C>T p.P1857S Missense 39/51 -
7-107593989-T-C LAMB1 c.3065A>G p.Q1022R Missense 22/34 -
20-25259006-G-T PYGB c.907G>T p.A303S Missense 8/20 -
5-52096889-C-A PELO c.661C>A p.L221M Missense 2/3 -
11-6789294-G-C OR2AG2 c.895C>G p.R299G Missense 2/2 -
11-5443887-T-C OR51Q1 c.457T>C p.C153R Missense 1/1 -
11-7687715-T-C CYB5R2 c.625A>G p.N209D Missense 8/9 -
12-53045626-T-C KRT2 c.301A>G p.S101G Missense 1/9 -
19-41944237-T-C ATP5SL c.101A>G p.N34S Missense 2/6 -
5-180631828-G-C TRIM7 c.283C>G p.Q95E Missense 1/7 -
16-65025718-G-A CDH11 c.764C>T p.T255M Missense 6/13 -
17-11522986-A-G DNAH9 c.1238A>G p.E413G Missense 6/69 -
3-58552329-C-G FAM107A c.421G>C p.E141Q Missense 4/4 -
19-13409472-T-A CACNA1A c.2975A>T p.E992V Missense 19/47 -
11-619789-T-G CDHR5 c.1071A>C p.R357S Missense 10/15 -
1-234745009-A-G IRF2BP2 c.232T>C p.S78P Missense 1/2 -
3-45134822-T-C CDCP1 c.1574A>G p.Q525R Missense 6/9 -
6-147136244-A-G ADGB c.4895A>G p.H1632R Missense 36/36 -
19-55527081-C-T GP6 c.745G>A p.A249T Missense 7/8 -
2-37456032-C-T CEBPZ c.304G>A p.V102I Missense 2/16 -
2-233498506-C-T EFHD1 c.92C>T p.A31V Missense 1/4 -
3-58080583-A-G FLNB c.808A>G p.M270V Missense 5/46 -
22-26854441-G-A HPS4 c.1816C>T p.H606Y Missense 12/14 -
13-47354101-C-T ESD c.569G>A p.G190E Missense 8/10 -
1-151733335-T-G MRPL9 c.629A>C p.E210A Missense 6/7 -
16-4933939-G-C PPL c.4717C>G p.Q1573E Missense 22/22 -
18-43497710-A-G EPG5 c.3173T>C p.V1058A Missense 17/44 -
15-45695382-G-A SPATA5L1 c.755G>A p.R252Q Missense 1/8 -
20-2638882-T-C NOP56 c.1727T>C p.V576A Missense 12/12 -
8-22428658-T-C SORBS3 c.1667T>C p.I556T Missense 18/21 -
22-25424579-C-A KIAA1671 c.613C>A p.P205T Missense 3/13 -
3-52523405-C-T NISCH c.3167C>T p.A1056V Missense 17/21 -
10-15256194-G-A FAM171A1 c.1393C>T p.P465S Missense 8/8 -
1-75214441-A-G TYW3 c.361A>G p.M121V Missense 4/6 -
16-420140-G-A MRPL28 c.79C>T p.H27Y Missense 2/6 -
5-73076511-C-A ARHGEF28 c.851C>A p.P284Q Missense 7/36 -
7-6449496-T-C DAGLB c.1991A>G p.Q664R Missense 15/15 -
11-117267884-A-G CEP164 c.3356A>G p.Q1119R Missense 27/33 -
17-79093822-A-G AATK c.3797T>C p.F1266S Missense 12/14 -
6-25605091-G-A CARMIL1 c.3604G>A p.G1202S Missense 34/37 -
12-52981512-G-A KRT72 c.1213C>T p.R405W Missense 7/9 -
5-1467004-A-G LPCAT1 c.1280T>C p.M427T Missense 13/14 -
9-8518052-G-C PTPRD c.1339C>G p.Q447E Missense 21/46 -
6-123833457-G-C TRDN c.601C>G p.L201V Missense 7/41 -
17-79514129-G-A FAAP100 c.1979C>T p.P660L Missense 5/9 -
16-840378-A-G CHTF18 c.731A>G p.K244R Missense 6/22 -
14-103342049-T-C TRAF3 c.386T>C p.M129T Missense 5/12 -
13-31891746-G-A B3GLCT c.1108G>A p.E370K Missense 13/15 -
11-20404613-T-G HTATIP2 c.591T>G p.S197R Missense 5/5 -
13-41323397-C-T MRPS31 c.835G>A p.D279N Missense 6/7 -
8-74893821-A-G TMEM70 c.748A>G p.T250A Missense 3/3 -
2-56411817-C-T CCDC85A c.58C>T p.P20S Missense 1/6 -
2-238427194-T-C MLPH c.458T>C p.L153P Missense 5/16 -
13-46103935-A-G COG3 c.2240A>G p.N747S Missense 21/23 -
17-33288882-T-G ZNF830 c.297T>G p.H99Q Missense 1/1 -
4-164435265-A-C TMA16 c.194A>C p.Q65P Missense 4/7 -
14-74058832-C-T ACOT4 c.169C>T p.R57C Missense 1/3 -
1-152957887-G-A SPRR1A c.181G>A p.V61I Missense 2/2 -
17-17942293-C-T ATPAF2 c.35G>A p.G12E Missense 1/8 -
17-76060875-C-G TNRC6C c.2459C>G p.P820R Missense 5/22 -
7-138740037-G-C ZC3HAV1 c.2101C>G p.Q701E Missense 10/13 -
1-3745924-G-A CEP104 c.2057C>T p.A686V Missense 15/22 -
3-153840389-T-C ARHGEF26 c.608T>C p.F203S Missense 2/15 -
12-88440676-G-C C12orf29 c.712G>C p.V238L Missense 6/7 -
20-7963041-C-T TMX4 c.907G>A p.G303R Missense 8/8 -
19-731144-A-G PALM c.319A>G p.T107A Missense 5/9 -
12-48723324-C-G H1-7 c.250C>G p.R84G Missense 1/1 -
20-16360219-C-T KIF16B c.2428G>A p.G810R Missense 19/26 -
3-118866376-C-T C3orf30 c.1340C>T p.S447L Missense 1/3 -
17-8701799-G-T MFSD6L c.640C>A p.P214T Missense 1/1 -
10-30316072-C-G JCAD c.3005G>C p.S1002T Missense 3/4 -
1-63999868-T-C EFCAB7 c.785T>C p.M262T Missense 6/14 -
20-5903388-A-C CHGB c.598A>C p.N200H Missense 4/5 -
11-7509566-A-T OLFML1 c.338A>T p.E113V Missense 2/3 -
12-108956433-C-T ISCU c.35C>T p.A12V Missense 1/5 -
4-54011526-A-G SCFD2 c.1535T>C p.L512S Missense 5/9 -
1-236208773-C-T NID1 c.736G>A p.V246I Missense 3/20 -
19-40368395-C-T FCGBP c.12953G>A p.R4318H Missense 28/36 -
19-622336-T-G POLRMT c.1664A>C p.E555A Missense 9/21 -
12-39973395-C-T ABCD2 c.1819G>A p.D607N Missense 8/10 -
9-38595886-T-C ANKRD18A c.1451A>G p.N484S Missense 9/16 -
2-103149100-G-A SLC9A4 c.2350G>A p.G784S Missense 12/12 -
22-26862212-T-C HPS4 c.686A>G p.E229G Missense 9/14 -
4-123838758-A-G NUDT6 c.340T>C p.C114R Missense 2/5 -
19-1615796-G-A TCF3 c.1475C>T p.A492V Missense 17/19 -
2-30863108-A-G LCLAT1 c.754A>G p.I252V Missense 6/6 -
3-122419083-C-A PARP14 c.1682C>A p.A561E Missense 6/17 -
5-82837631-G-T VCAN c.8809G>T p.D2937Y Missense 8/15 -
3-126451937-G-T CHCHD6 c.283G>T p.A95S Missense 4/8 -
10-50901934-A-C C10orf53 c.212A>C p.E71A Missense 2/3 -
12-113796566-A-C PLBD2 c.161A>C p.Q54P Missense 1/12 -
14-52496387-C-A NID2 c.2279G>T p.G760V Missense 10/22 -
14-69704553-G-T EXD2 c.1554G>T p.Q518H Missense 9/10 -
10-135184126-G-A ECHS1 c.224C>T p.T75I Missense 2/8 -
15-42568547-C-G GANC c.31C>G p.L11V Missense 2/24 -
12-3724583-T-C CRACR2A c.2134A>G p.T712A Missense 20/20 -
14-68035879-A-G PLEKHH1 c.1288A>G p.T430A Missense 8/29 -
4-156273768-T-C MAP9 c.1801A>G p.N601D Missense 13/14 -
1-152957832-C-A SPRR1A c.126C>A p.H42Q Missense 2/2 -
16-12758966-T-C CPPED1 c.722A>G p.K241R Missense 4/4 -
19-17450016-T-C GTPBP3 c.749T>C p.V250A Missense 6/9 -
15-65684513-C-T IGDCC4 c.2081G>A p.R694Q Missense 11/20 -
9-79324955-C-T PRUNE2 c.2235G>A p.M745I Missense 8/19 -
14-71109153-C-G TTC9 c.307C>G p.P103A Missense 1/3 -
18-66542006-G-T CCDC102B c.1037G>T p.C346F Missense 5/8 -
9-135203409-A-C SETX c.3576T>G p.D1192E Missense 10/26 -
18-47318626-T-C ACAA2 c.649A>G p.M217V Missense 6/10 -
17-78302157-C-A RNF213 c.3397C>A p.Q1133K Missense 20/68 -
20-5903848-C-G CHGB c.1058C>G p.A353G Missense 4/5 -
18-57000469-T-A LMAN1 c.1228A>T p.M410L Missense 11/13 -
1-52851608-G-A ORC1 c.1397C>T p.T466M Missense 9/17 -
5-138857919-T-C STING1 c.695A>G p.H232R Missense 6/8 -
1-114948281-A-G TRIM33 c.2519T>C p.I840T Missense 15/20 -
8-38095662-C-T DDHD2 c.557C>T p.T186M Missense 5/18 -
1-64097432-C-T PGM1 c.661C>T p.R221C Missense 4/11 -
16-1545448-A-G TELO2 c.437A>G p.Q146R Missense 3/21 -
1-247752367-A-G OR2G2 c.706A>G p.R236G Missense 1/1 -
1-213031948-G-C FLVCR1 c.154G>C p.A52P Missense 1/10 -
19-51170706-A-G SHANK1 c.4511T>C p.V1504A Missense 23/24 -
2-68622914-G-A PLEK c.1019G>A p.R340K Missense 9/9 -
1-183094547-T-C LAMC1 c.2663T>C p.L888P Missense 15/28 -
12-106460938-G-C NUAK1 c.1628C>G p.P543R Missense 7/7 -
2-233537125-A-G EFHD1 c.557A>G p.K186R Missense 3/4 -
11-58978684-G-A MPEG1 c.1655C>T p.P552L Missense 1/1 -
1-184020945-G-A TSEN15 c.56G>A p.G19D Missense 1/5 -
3-101283792-C-G TRMT10C c.167C>G p.P56R Missense 2/2 -
19-15587185-C-T PGLYRP2 c.296G>A p.R99Q Missense 2/5 -
19-40408821-C-G FCGBP c.4018G>C p.V1340L Missense 8/36 -
12-128900005-G-A TMEM132C c.814G>A p.V272I Missense 2/9 -
1-16534255-C-G ARHGEF19 c.712G>C p.E238Q Missense 4/16 -
9-730054-A-G KANK1 c.2702A>G p.N901S Missense 4/12 -
14-88401213-T-C GALC c.1921A>G p.T641A Missense 17/17 -
4-169928842-G-T CBR4 c.208C>A p.L70M Missense 2/5 -
2-170493863-A-G PPIG c.2095A>G p.N699D Missense 14/14 -
7-119915032-G-A KCND2 c.346G>A p.D116N Missense 1/6 -
5-141248963-T-G PCDH1 c.74A>C p.H25P Missense 2/5 -
1-152084531-G-C TCHH c.1162C>G p.Q388E Missense 3/3 -
6-49415448-C-T MMUT c.1495G>A p.A499T Missense 8/13 -
20-1426393-C-T NSFL1C c.868G>A p.D290N Missense 8/9 -
3-33458266-T-C UBP1 c.326A>G p.N109S Missense 3/16 -
6-96651740-A-G FUT9 c.709A>G p.T237A Missense 3/3 -
1-243354791-C-T CEP170 c.637G>A p.G213S Missense 8/20 -
21-47777063-G-A PCNT c.2111G>A p.G704E Missense 13/47 -
5-125887715-T-G ALDH7A1 c.1315A>C p.K439Q Missense 14/18 -
3-15115872-A-G RBSN c.1772T>C p.L591P Missense 14/14 -
14-21549893-G-C ARHGEF40 c.2866G>C p.V956L Missense 14/24 -
2-183584755-G-A DNAJC10 c.226G>A p.D76N Missense 4/24 -
3-136574501-A-G SLC35G2 c.1199A>G p.K400R Missense 2/2 -
15-63433766-G-A LACTB c.1406G>A p.R469K Missense 6/6 -
8-120596023-A-G ENPP2 c.1477T>C p.S493P Missense 17/25 -
8-95143172-T-G CDH17 c.2216A>C p.E739A Missense 16/18 -
16-84209738-T-C DNAAF1 c.1898T>C p.L633S Missense 11/12 -
16-58743454-A-C GOT2 c.1037T>G p.V346G Missense 9/10 -
17-2203167-T-G SMG6 c.880A>C p.K294Q Missense 2/19 -
1-186101539-A-G HMCN1 c.13310A>G p.Q4437R Missense 86/107 -
14-21551069-T-C ARHGEF40 c.3566T>C p.L1189S Missense 16/24 -
21-22746187-T-C NCAM2 c.1049T>C p.L350P Missense 9/18 -
3-12848822-T-C CAND2 c.230T>C p.V77A Missense 3/15 -
4-186379899-G-C CCDC110 c.1842C>G p.I614M Missense 6/7 -
8-139165289-T-C FAM135B c.1429A>G p.I477V Missense 13/20 -
5-54439466-G-A CDC20B c.361C>T p.R121C Missense 4/12 -
5-149374932-T-C TIGD6 c.980A>G p.Q327R Missense 2/2 -
10-134736076-T-G CFAP46 c.1393A>C p.I465L Missense 12/58 -
3-158366900-G-A GFM1 c.643G>A p.V215I Missense 5/18 -
4-104013796-T-C BDH2 c.209A>G p.N70S Missense 4/10 -
1-27210721-T-C GPN2 c.790A>G p.R264G Missense 4/5 -
1-42693597-A-G FOXJ3 c.485T>C p.V162A Missense 5/13 -
4-156274377-T-C MAP9 c.1496A>G p.K499R Missense 11/14 -
22-44379838-A-G SAMM50 c.1033A>G p.I345V Missense 12/15 -
3-44884647-C-A KIF15 c.3616C>A p.L1206M Missense 30/35 -
11-75378674-A-C MAP6 c.741T>G p.I247M Missense 1/4 -
14-39556185-G-C SEC23A c.631C>G p.L211V Missense 6/20 -
22-19959473-C-T ARVCF c.2717G>A p.R906Q Missense 18/20 -
18-43310415-G-A SLC14A1 c.130G>A p.E44K Missense 3/10 -
11-61108974-G-A TKFC c.553G>A p.A185T Missense 6/18 -
8-101154066-G-A FBXO43 c.416C>T p.P139L Missense 2/5 -
4-189060945-C-T TRIML1 c.233C>T p.A78V Missense 1/6 -
15-43818052-G-A MAP1A c.4381G>A p.D1461N Missense 4/6 -
22-23523285-G-C BCR c.138G>C p.E46D Missense 1/23 -
22-23523285-G-T BCR c.138G>T p.E46D Missense 1/23 -
14-31099738-A-G SCFD1 c.188A>G p.K63R Missense 3/25 -
10-101147692-G-A CNNM1 c.2456G>A p.R819Q Missense 8/11 -
19-16025176-C-T CYP4F11 c.1336G>A p.D446N Missense 11/12 -
15-40259848-A-C EIF2AK4 c.1321A>C p.I441L Missense 9/39 -
9-108147763-T-G SLC44A1 c.1930T>G p.S644A Missense 15/16 -
2-152506811-C-T NEB c.7310G>A p.R2437Q Missense 54/182 -
15-45661678-T-A GATM c.330A>T p.Q110H Missense 3/9 -
1-19413261-T-A UBR4 c.14599A>T p.M4867L Missense 100/106 -
5-153413390-C-T FAM114A2 c.364G>A p.G122S Missense 4/14 -
11-64789194-T-C ARL2 c.422T>C p.V141A Missense 5/5 -
17-39659913-G-A KRT13 c.560C>T p.A187V Missense 2/8 -
14-31763142-T-A HEATR5A c.5788A>T p.I1930L Missense 35/36 -
14-31763142-T-G HEATR5A c.5788A>C p.I1930L Missense 35/36 -
2-174946760-T-C OLA1 c.761A>G p.Y254C Missense 8/11 -
2-152527608-C-T NEB c.4435G>A p.V1479I Missense 38/182 -
18-6980523-T-C LAMA1 c.6004A>G p.K2002E Missense 42/63 -
10-28260151-A-G ODAD2 c.1028T>C p.I343T Missense 8/20 -
12-105546172-G-A WASHC4 c.2701G>A p.V901I Missense 26/33 -
14-96781912-T-C ATG2B c.3370A>G p.N1124D Missense 22/42 -
20-25262769-G-A PYGB c.1504G>A p.D502N Missense 12/20 -
6-99825348-T-C COQ3 c.400A>G p.K134E Missense 4/7 -
6-100964147-G-C ASCC3 c.5984C>G p.S1995C Missense 39/42 -
19-51172526-G-C SHANK1 c.2691C>G p.D897E Missense 23/24 -
6-168459845-G-C FRMD1 c.1366C>G p.Q456E Missense 10/11 -
17-30183857-T-C COPRS c.127A>G p.S43G Missense 2/4 -
14-21542766-A-G ARHGEF40 c.877A>G p.K293E Missense 3/24 -
6-31595882-C-A PRRC2A c.1631C>A p.T544K Missense 12/31 -
1-36752433-C-T THRAP3 c.602C>T p.A201V Missense 4/12 -
6-33036999-T-C HLA-DPA1 c.425A>G p.K142R Missense 3/5 -
11-7694002-G-A CYB5R2 c.55C>T p.P19S Missense 2/9 -
16-84522897-G-C MEAK7 c.516C>G p.D172E Missense 4/8 -
16-84522897-G-T MEAK7 c.516C>A p.D172E Missense 4/8 -
6-49403282-T-C MMUT c.2011A>G p.I671V Missense 12/13 -
3-12861608-G-A CAND2 c.2968G>A p.V990I Missense 11/15 -
3-46008790-G-A FYCO1 c.2036C>T p.A679V Missense 8/18 -
16-84158248-G-C HSDL1 c.980C>G p.S327C Missense 6/6 -
3-145917761-T-C PLSCR4 c.463A>G p.I155V Missense 6/9 -
16-23536684-T-C EARS2 c.1369A>G p.S457G Missense 8/9 -
12-49390677-T-C DDN c.1982A>G p.E661G Missense 2/2 -
7-82764425-C-G PCLO c.2441G>C p.S814T Missense 3/25 -
1-89652071-T-C GBP4 c.1652A>G p.E551G Missense 10/11 -
16-88791458-G-A PIEZO1 c.4193C>T p.P1398L Missense 30/51 -
7-129938598-G-T CPA4 c.81G>T p.L27F Missense 2/11 -
1-75175886-T-C CRYZ c.526A>G p.I176V Missense 6/9 -
3-140178485-G-A CLSTN2 c.1096G>A p.V366I Missense 7/17 -
17-4796274-T-C MINK1 c.2312T>C p.V771A Missense 20/32 -
1-205031116-C-T CNTN2 c.1097C>T p.P366L Missense 9/23 -
2-99439603-G-A CRACDL c.1133C>T p.A378V Missense 7/10 -
12-64062052-G-A DPY19L2 c.122C>T p.A41V Missense 1/22 -
21-44324365-G-A NDUFV3 c.1243G>A p.D415N Missense 3/4 -
1-225607144-C-T LBR c.461G>A p.S154N Missense 5/14 -
6-33048689-G-A HLA-DPB1 c.341G>A p.G114E Missense 2/6 -
17-80863857-T-C TBCD c.1850T>C p.M617T Missense 20/39 -
17-48629458-A-G SPATA20 c.1874A>G p.K625R Missense 14/17 -
8-131124559-T-C ASAP1 c.2182A>G p.I728V Missense 24/30 -
11-117222592-G-A CEP164 c.281G>A p.S94N Missense 5/33 -
2-179558366-T-C TTN c.31564A>G p.I10522V Missense 119/363 -
17-33269648-C-G CCT6B c.740G>C p.G247A Missense 7/14 -
16-12897578-G-T CPPED1 c.56C>A p.A19D Missense 1/4 -
1-202935911-T-C CYB5R1 c.131A>G p.N44S Missense 2/9 -
19-46518651-A-G CCDC61 c.811A>G p.T271A Missense 7/14 -
20-47273726-C-T PREX1 c.1975G>A p.V659M Missense 18/40 -
16-58752466-C-T GOT2 c.562G>A p.G188S Missense 5/10 -
19-33878837-G-A PEPD c.1303C>T p.L435F Missense 14/15 -
20-16360177-G-T KIF16B c.2470C>A p.R824S Missense 19/26 -
3-193036783-G-A ATP13A5 c.2030C>T p.A677V Missense 17/30 -
9-140917779-G-T CACNA1B c.2584G>T p.A862S Missense 19/47 -
7-1976457-C-T MAD1L1 c.1673G>A p.R558H Missense 17/19 -
13-25831888-T-C MTMR6 c.955A>G p.I319V Missense 8/14 -
18-72244208-G-A CNDP1 c.946G>A p.D316N Missense 8/12 -
6-5260936-A-C LYRM4 c.31T>G p.S11A Missense 1/3 -
1-100361925-G-A AGL c.3343G>A p.G1115R Missense 25/34 -
8-8860620-T-C ERI1 c.47T>C p.L16P Missense 1/7 -
1-15909850-C-G AGMAT c.313G>C p.G105R Missense 2/7 -
20-5903517-A-G CHGB c.727A>G p.T243A Missense 4/5 -
7-102743893-C-T NAPEPLD c.1165G>A p.D389N Missense 5/5 -
1-117122130-T-C IGSF3 c.3218A>G p.Q1073R Missense 10/11 -
2-228883721-T-C SPHKAP c.1849A>G p.K617E Missense 7/12 -
6-3010390-C-T NQO2 c.139C>T p.L47F Missense 3/7 -
17-21318782-G-A KCNJ12 c.128G>A p.R43H Missense 3/3 -
1-15428057-G-T KAZN c.1566G>T p.E522D Missense 11/15 -
11-47188411-C-T ARFGAP2 c.1232G>A p.S411N Missense 13/16 -
10-115644040-G-A NHLRC2 c.940G>A p.V314I Missense 5/11 -
18-6993673-T-C LAMA1 c.4975A>G p.I1659V Missense 35/63 -
17-78305871-G-A RNF213 c.3583G>A p.V1195M Missense 21/68 -
6-150184882-G-C LRP11 c.275C>G p.P92R Missense 1/7 -
1-173516871-G-C SLC9C2 c.1514C>G p.A505G Missense 13/28 -
1-236141174-T-C NID1 c.3737A>G p.Q1246R Missense 20/20 -
4-87809020-C-G C4orf36 c.247G>C p.V83L Missense 4/5 -
1-204199614-C-T PLEKHA6 c.2510G>A p.R837K Missense 18/23 -
7-12269417-C-G TMEM106B c.554C>G p.T185S Missense 5/8 -
19-7747293-T-G TRAPPC5 c.154T>G p.S52A Missense 2/2 -
3-52556890-A-G STAB1 c.6844A>G p.I2282V Missense 62/69 -
9-140396121-A-G PNPLA7 c.1532T>C p.V511A Missense 15/35 -
19-9024871-C-T MUC16 c.36991G>A p.E12331K Missense 16/84 -
22-19969106-A-G ARVCF c.524T>C p.V175A Missense 5/20 -
10-105762591-G-A SLK c.1655G>A p.C552Y Missense 9/19 -
7-149152906-G-A ZNF777 c.208C>T p.R70W Missense 2/6 -
6-4031998-A-G PRPF4B c.247A>G p.I83V Missense 2/15 -
2-179579093-T-C TTN c.26408A>G p.N8803S Missense 91/363 -
9-21816758-G-A MTAP c.166G>A p.V56I Missense 3/8 -
12-108954862-G-C SART3 c.69C>G p.D23E Missense 1/19 -
18-745840-T-C YES1 c.592A>G p.I198V Missense 6/12 -
5-73992881-A-G HEXB c.619A>G p.I207V Missense 5/14 -
17-4856376-A-G ENO3 c.212A>G p.N71S Missense 4/12 -
5-140168151-G-T PCDHA1 c.2276G>T p.C759F Missense 1/4 -
1-152331240-G-A FLG2 c.121C>T p.L41F Missense 2/3 -
10-116719543-G-A TRUB1 c.500G>A p.R167K Missense 4/8 -
10-12143105-C-G DHTKD1 c.1821C>G p.I607M Missense 10/17 -
17-4796286-C-T MINK1 c.2324C>T p.P775L Missense 20/32 -
19-47768128-G-C CCDC9 c.645G>C p.E215D Missense 7/12 -
9-111659483-T-G ELP1 c.2446A>C p.I816L Missense 23/37 -
8-86351997-G-A CA3 c.91G>A p.V31I Missense 2/7 -
2-111598958-C-T ACOXL c.764C>T p.T255M Missense 10/18 -
11-6239344-G-A FAM160A2 c.1472C>T p.T491M Missense 9/12 -
7-11581121-T-C THSD7A c.1747A>G p.N583D Missense 6/28 -
2-191161622-T-C HIBCH c.136A>G p.T46A Missense 3/14 -
15-40655845-C-G DISP2 c.139C>G p.P47A Missense 2/8 -
11-34910397-C-T APIP c.227G>A p.C76Y Missense 4/7 -
7-89984409-A-G GTPBP10 c.329A>G p.N110S Missense 4/10 -
11-86123556-A-G CCDC81 c.1346A>G p.Y449C Missense 11/15 -
17-4856580-T-C ENO3 c.254T>C p.V85A Missense 5/12 -
3-183861243-A-G EIF2B5 c.1759A>G p.I587V Missense 13/16 -
14-105935824-G-A MTA1 c.1834G>A p.A612T Missense 19/21 -
3-148597612-C-T CPA3 c.512C>T p.T171M Missense 6/11 -
15-45661678-T-G GATM c.330A>C p.Q110H Missense 3/9 -
14-74036216-A-G ACOT2 c.272A>G p.E91G Missense 1/3 -
5-134076812-G-A CAMLG c.232G>A p.V78I Missense 2/4 -
12-58025813-G-C B4GALNT1 c.103C>G p.L35V Missense 2/11 -
11-121393684-G-A SORL1 c.1582G>A p.A528T Missense 11/48 -
2-44004010-T-C DYNC2LI1 c.98T>C p.F33S Missense 2/13 -
6-51483961-T-C PKHD1 c.12143A>G p.Q4048R Missense 67/67 -
14-24736961-T-C RABGGTA c.1258A>G p.T420A Missense 14/17 -
12-53497402-A-G SOAT2 c.41A>G p.E14G Missense 1/15 -
12-52981442-C-A KRT72 c.1283G>T p.R428L Missense 7/9 -
1-24419496-A-G MYOM3 c.1031T>C p.M344T Missense 10/37 -
18-33718326-A-C ELP2 c.382A>C p.T128P Missense 4/22 -
16-3721773-G-C TRAP1 c.1185C>G p.D395E Missense 11/18 -
8-144671956-G-A EEF1D c.296C>T p.A99V Missense 3/10 -
18-61160287-T-C SERPINB5 c.526T>C p.S176P Missense 5/7 -
3-52378540-G-C DNAH1 c.1321G>C p.V441L Missense 9/78 -
1-16256007-T-C SPEN c.3272T>C p.L1091P Missense 11/15 -
21-37518706-G-A CBR3 c.730G>A p.V244M Missense 3/3 -
17-51901703-C-G KIF2B c.1309C>G p.R437G Missense 1/1 -
9-79319874-C-A PRUNE2 c.7316G>T p.S2439I Missense 8/19 -
1-75038228-A-C ERICH3 c.3166T>G p.L1056V Missense 14/15 -
5-89769728-T-C MBLAC2 c.382A>G p.T128A Missense 1/2 -
7-100137085-G-C AGFG2 c.116G>C p.C39S Missense 1/12 -
4-111398208-A-G ENPEP c.638A>G p.Q213R Missense 1/20 -
1-16259813-A-G SPEN c.7078A>G p.N2360D Missense 11/15 -
11-82996986-A-C CCDC90B c.30T>G p.F10L Missense 1/9 -
17-66267650-T-G SLC16A6 c.651A>C p.E217D Missense 5/6 -
17-41133071-T-C RUNDC1 c.478T>C p.W160R Missense 1/5 -
6-29911272-T-G HLA-A c.571T>G p.W191G Missense 3/8 -
1-222802376-A-G MIA3 c.1814A>G p.K605R Missense 4/28 -
10-70044031-T-C PBLD c.770A>G p.H257R Missense 10/10 -
12-113589799-G-A CFAP73 c.133G>A p.A45T Missense 2/8 -
12-133306589-C-T ANKLE2 c.2159G>A p.R720H Missense 11/13 -
10-18266989-G-A SLC39A12 c.910G>A p.V304I Missense 5/13 -
10-64564934-C-G ADO c.115C>G p.P39A Missense 1/1 -
17-78306280-A-G RNF213 c.3992A>G p.D1331G Missense 21/68 -
7-4841313-A-G RADIL c.2813T>C p.L938P Missense 12/15 -
5-149003627-C-T ARHGEF37 c.1388C>T p.A463V Missense 10/13 -
10-105810400-T-C COL17A1 c.2107A>G p.M703V Missense 27/56 -
6-72889549-C-T RIMS1 c.743C>T p.S248L Missense 5/34 -
19-14040896-G-A CC2D1A c.2716G>A p.A906T Missense 27/29 -
20-5904028-C-T CHGB c.1238C>T p.P413L Missense 4/5 -
1-152732567-G-A KPRP c.503G>A p.R168H Missense 2/2 -
7-150269542-G-T GIMAP4 c.384G>T p.E128D Missense 3/3 -
2-55870297-T-C PNPT1 c.2065A>G p.I689V Missense 25/28 -
7-45122464-A-C NACAD c.3315T>G p.D1105E Missense 2/8 -
12-52886911-T-C KRT6A c.62A>G p.N21S Missense 1/9 -
7-64452830-C-T ERV3-1 c.575G>A p.C192Y Missense 2/2 -
2-70047948-A-C ANXA4 c.901A>C p.I301L Missense 12/13 -
11-1775352-C-T CTSD c.844G>A p.G282R Missense 7/9 -
2-98422079-C-A TMEM131 c.2143G>T p.V715L Missense 20/41 -
2-118582189-G-A DDX18 c.1111G>A p.V371I Missense 8/14 -
2-131113748-G-C PTPN18 c.68G>C p.G23A Missense 1/15 -
2-130832364-G-A POTEF c.2681C>T p.T894I Missense 17/17 -
21-34997018-C-T CRYZL1 c.115G>A p.A39T Missense 3/13 -
21-45560145-G-A GATD3 c.442G>A p.V148M Missense 5/7 -
2-152487332-C-T NEB c.9620G>A p.R3207H Missense 67/182 -
2-163144694-T-C IFIH1 c.1046A>G p.K349R Missense 5/16 -
11-61959636-C-T SCGB1D1 c.164C>T p.A55V Missense 2/3 -
11-62285571-C-T AHNAK c.16318G>A p.V5440M Missense 5/5 -
11-62298068-A-G AHNAK c.3821T>C p.V1274A Missense 5/5 -
1-22191361-G-C HSPG2 c.4601C>G p.P1534R Missense 36/97 -
22-32849470-T-A BPIFC c.145A>T p.M49L Missense 2/15 -
1-47282755-G-C CYP4B1 c.1109G>C p.C370S Missense 9/12 -
22-37531375-C-T IL2RB c.811G>A p.G271R Missense 8/10 -
1-175372347-C-T TNR c.905G>A p.S302N Missense 4/23 -
11-85396271-C-A CCDC89 c.903G>T p.E301D Missense 1/1 -
11-75298917-C-A MAP6 c.1629G>T p.M543I Missense 4/4 -
2-240951071-C-T NDUFA10 c.712G>A p.E238K Missense 6/10 -
11-108277861-C-T C11orf65 c.190G>A p.A64T Missense 4/9 -
1-193038360-A-G RO60 c.176A>G p.E59G Missense 2/9 -
X-9866233-G-T SHROOM2 c.2794G>T p.A932S Missense 5/10 -
11-118307316-C-G KMT2A c.89C>G p.A30G Missense 1/36 -
X-17767602-C-T SCML1 c.281C>T p.A94V Missense 5/8 -
X-20134957-G-A MAP7D2 c.41C>T p.P14L Missense 1/17 -
11-119229758-T-C USP2 c.1148A>G p.N383S Missense 6/13 -
X-45051096-G-T DIPK2B c.398C>A p.A133E Missense 2/5 -
12-520944-G-A CCDC77 c.70G>A p.V24I Missense 4/13 -
3-15297787-T-C SH3BP5 c.1174A>G p.N392D Missense 9/9 -
X-91456393-G-A PCDH11X c.3053G>A p.R1018Q Missense 7/11 -
3-32586521-C-T DYNC1LI1 c.415G>A p.V139I Missense 4/13 -
X-135430013-C-T ADGRG4 c.4148C>T p.T1383M Missense 6/26 -
12-15102799-C-G ARHGDIB c.202G>C p.V68L Missense 3/6 -
X-153594535-G-A FLNA c.1286C>T p.T429M Missense 9/48 -
4-175225452-G-A CEP44 c.439G>A p.G147S Missense 6/12 -
3-49689642-C-T BSN c.2653C>T p.P885S Missense 5/12 -
3-57542456-T-C PDE12 c.350T>C p.V117A Missense 1/3 -
3-53269087-T-C TKT c.541A>G p.I181V Missense 5/14 -
3-53269028-G-T TKT c.600C>A p.D200E Missense 5/14 -
3-53267183-C-T TKT c.737G>A p.R246Q Missense 6/14 -
3-65342433-A-C MAGI1 c.4009T>G p.L1337V Missense 23/23 -
12-50190160-C-T NCKAP5L c.1483G>A p.G495S Missense 8/13 -
3-107097072-T-C CCDC54 c.638T>C p.I213T Missense 1/1 -
12-52962167-T-C KRT74 c.1141A>G p.S381G Missense 7/9 -
17-18221010-A-G SMCR8 c.1907A>G p.N636S Missense 1/2 -
12-85450426-G-A LRRIQ1 c.1855G>A p.E619K Missense 8/27 -
3-179408054-C-T USP13 c.320C>T p.A107V Missense 3/21 -
3-169572694-C-T LRRC31 c.898G>A p.E300K Missense 6/9 -
3-167508198-G-A SERPINI1 c.289G>A p.V97I Missense 3/9 -
12-117691500-C-T NOS1 c.2591G>A p.G864D Missense 17/29 -
12-114837349-C-A TBX5 c.331G>T p.D111Y Missense 4/9 -
12-122864920-G-A CLIP1 c.80C>T p.T27M Missense 2/26 -
12-123706359-G-C MPHOSPH9 c.432C>G p.N144K Missense 5/24 -
12-123661295-T-C MPHOSPH9 c.2396A>G p.H799R Missense 16/24 -
3-194408444-G-A FAM43A c.889G>A p.E297K Missense 1/1 -
13-32332484-G-A RXFP2 c.184G>A p.A62T Missense 2/18 -
13-50306528-T-C KPNA3 c.362A>G p.K121R Missense 6/17 -
4-68484837-C-A UBA6 c.3037G>T p.V1013L Missense 33/33 -
4-77100807-T-C SCARB2 c.475A>G p.M159V Missense 4/12 -
14-24424420-C-T DHRS4 c.305C>T p.T102M Missense 2/8 -
14-24522938-A-C CARMIL3 c.61A>C p.S21R Missense 2/40 -
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 -
4-114274230-G-C ANK2 c.4456G>C p.V1486L Missense 38/46 -
4-114279674-C-A ANK2 c.9900C>A p.S3300R Missense 38/46 -
4-128811117-G-C PLK4 c.1556G>C p.W519S Missense 7/16 -
4-159631800-C-T PPID c.1004G>A p.G335E Missense 9/10 -
4-184600620-G-A TRAPPC11 c.946G>A p.D316N Missense 9/30 -
4-166416765-C-T CPE c.1268C>T p.A423V Missense 8/9 -
5-36972056-T-G NIPBL c.781T>G p.S261A Missense 8/47 -
5-70308262-C-T NAIP c.481G>A p.A161T Missense 4/17 -
15-33445809-C-A FMN1 c.1307G>T p.G436V Missense 4/21 -
15-43818926-C-T MAP1A c.5255C>T p.A1752V Missense 4/6 -
15-52060519-C-G TMOD2 c.187C>G p.P63A Missense 3/10 -
5-132408967-G-A HSPA4 c.475G>A p.A159T Missense 5/19 -
15-72954796-G-T GOLGA6B c.1051G>T p.V351L Missense 11/18 -
15-78454050-T-A IDH3A c.417T>A p.D139E Missense 5/11 -
15-78562867-T-C DNAJA4 c.161T>C p.V54A Missense 2/7 -
15-79606186-G-A TMED3 c.256G>A p.D86N Missense 2/3 -
5-143586755-G-A KCTD16 c.478G>A p.D160N Missense 3/4 -
5-154278151-G-A GEMIN5 c.3194C>T p.A1065V Missense 23/28 -
5-176308303-C-T HK3 c.2627G>A p.R876H Missense 18/19 -
7-97822115-T-A LMTK2 c.2338T>A p.L780M Missense 11/14 -
6-10709581-A-G PAK1IP1 c.1075A>G p.K359E Missense 10/10 -
16-2946697-A-T FLYWCH2 c.247A>T p.T83S Missense 3/4 -
16-2815784-G-C SRRM2 c.5255G>C p.R1752P Missense 11/15 -
16-46755060-T-C MYLK3 c.1960A>G p.I654V Missense 9/13 -
6-71298323-C-T SDHAF4 c.223C>T p.P75S Missense 3/3 -
16-57493629-G-C COQ9 c.864G>C p.K288N Missense 7/9 -
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 -
6-123714775-C-T TRDN c.1099G>A p.A367T Missense 13/41 -
6-116943975-G-A RSPH4A c.731G>A p.R244H Missense 2/6 -
6-144844317-C-T UTRN c.5899C>T p.R1967W Missense 40/74 -
16-89813078-G-C FANCA c.3427C>G p.L1143V Missense 35/43 -
6-158349699-C-T SNX9 c.1253C>T p.T418M Missense 12/18 -
6-159655190-G-A FNDC1 c.3646G>A p.D1216N Missense 11/23 -
17-1611317-A-G TLCD2 c.542T>C p.L181P Missense 4/4 -
7-6189373-C-T USP42 c.1546C>T p.H516Y Missense 13/18 -
17-26900817-T-C ALDOC c.935A>G p.N312S Missense 8/9 -
7-44096482-G-A DBNL c.454G>A p.V152M Missense 5/13 -
17-27208326-C-T FLOT2 c.982G>A p.A328T Missense 9/11 -
18-47463727-G-A MYO5B c.1793C>T p.P598L Missense 15/40 -
7-82585758-G-C PCLO c.4511C>G p.T1504S Missense 5/25 -
17-42750898-A-T MEIOC c.2622A>T p.R874S Missense 7/8 -
17-42991449-C-T GFAP c.469G>A p.D157N Missense 2/9 -
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 -
18-5397383-G-A EPB41L3 c.2515C>T p.P839S Missense 18/23 -
18-28991349-A-G DSG4 c.2293A>G p.T765A Missense 15/16 -
8-22168677-C-T PIWIL2 c.1853C>T p.A618V Missense 16/23 -
11-57427232-A-G CLP1 c.284A>G p.N95S Missense 2/3 -
8-79629586-C-T ZC2HC1A c.836C>T p.S279F Missense 9/9 -
19-4311977-C-T FSD1 c.629C>T p.P210L Missense 7/13 -
8-124664065-G-A KLHL38 c.1102C>T p.P368S Missense 2/4 -
19-5790108-C-T DUS3L c.337G>A p.V113M Missense 2/13 -
19-6141593-T-A ACSBG2 c.39T>A p.D13E Missense 2/15 -
19-6452423-C-T SLC25A23 c.971G>A p.R324H Missense 8/10 -
19-8381489-T-G NDUFA7 c.142A>C p.K48Q Missense 3/4 -
19-13041131-G-T FARSA c.409C>A p.Q137K Missense 4/13 -
8-145732180-G-C GPT c.1354G>C p.V452L Missense 10/11 -
1-29602227-G-T PTPRU c.1412G>T p.R471L Missense 8/30 -
19-13411451-T-G CACNA1A c.2192A>C p.E731A Missense 18/47 -
19-13409407-C-T CACNA1A c.3040G>A p.E1014K Missense 19/47 -
9-17340839-T-A CNTLN c.1659T>A p.D553E Missense 11/26 -
19-15234344-G-A ILVBL c.179C>T p.A60V Missense 3/16 -
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 -
19-19042798-C-T HOMER3 c.677G>A p.R226Q Missense 7/10 -
1-46032307-G-A AKR1A1 c.151G>A p.G51S Missense 3/9 -
9-79320439-T-G PRUNE2 c.6751A>C p.I2251L Missense 8/19 -
19-38810700-G-A KCNK6 c.110G>A p.R37Q Missense 1/3 -
6-24476431-T-C GPLD1 c.308A>G p.N103S Missense 4/25 -
1-110050180-C-T AMIGO1 c.1355G>A p.G452D Missense 2/2 -
9-123586913-T-G PSMD5 c.865A>C p.I289L Missense 7/10 -
3-46009487-G-A FYCO1 c.1339C>T p.R447C Missense 8/18 -
19-44777087-G-A ZNF233 c.274G>A p.E92K Missense 5/5 -
1-117660820-C-T TRIM45 c.1058G>A p.R353Q Missense 2/6 -
19-45815163-G-A CKM c.497C>T p.T166M Missense 5/8 -
19-48848554-C-T TMEM143 c.427G>A p.D143N Missense 4/8 -
1-151337703-C-T SELENBP1 c.1099G>A p.E367K Missense 10/12 -
1-152883786-C-G IVL c.1513C>G p.Q505E Missense 2/2 -
1-156616814-C-G BCAN c.313C>G p.R105G Missense 3/14 -
10-35897304-C-T GJD4 c.863C>T p.T288M Missense 2/2 -
1-208212224-C-T PLXNA2 c.4606G>A p.V1536M Missense 25/32 -
20-35835826-G-A RPN2 c.841G>A p.D281N Missense 7/17 -
19-17749893-G-A UNC13A c.3080C>T p.P1027L Missense 25/44 -
19-44896570-C-T ZNF285 c.76G>A p.D26N Missense 3/4 -
10-105164845-G-C PDCD11 c.469G>C p.G157R Missense 5/36 -
20-58576449-T-G CDH26 c.2149T>G p.C717G Missense 15/18 -
10-115489187-A-C CASP7 c.800A>C p.D267A Missense 7/7 -
10-106130801-G-A CFAP58 c.1079G>A p.G360E Missense 7/18 -
11-124006993-G-A VWA5A c.1517G>A p.R506K Missense 13/19 -
7-45124465-A-T NACAD c.1314T>A p.D438E Missense 2/8 -
16-70512234-C-T FCSK c.2701C>T p.R901W Missense 21/24 -
18-66564514-G-C CCDC102B c.1112G>C p.R371T Missense 6/8 -
22-29879534-C-A NEFH c.1054C>A p.R352S Missense 2/4 -
19-34957830-C-T UBA2 c.1652C>T p.P551L Missense 16/17 -
4-114279628-T-C ANK2 c.9854T>C p.I3285T Missense 38/46 -
6-32632659-C-T HLA-DQB1 c.295G>A p.V99I Missense 2/5 -
7-91603056-C-T AKAP9 c.80C>T p.S27L Missense 2/50 -
9-139973820-C-T UAP1L1 c.956C>T p.A319V Missense 5/9 -
7-102098010-G-A ALKBH4 c.740C>T p.A247V Missense 3/3 -
1-185976370-A-G HMCN1 c.4586A>G p.N1529S Missense 30/107 -
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 -
6-36393816-A-G PXT1 c.44T>C p.V15A Missense 3/5 -
1-175375469-C-A TNR c.382G>T p.A128S Missense 3/23 -
22-36623920-G-A APOL2 c.544C>T p.R182C Missense 5/5 -
4-169196609-C-T DDX60 c.2191G>A p.V731I Missense 16/38 -
1-200534255-T-A KIF14 c.4013A>T p.E1338V Missense 25/30 -
2-198949344-A-G PLCL1 c.1103A>G p.Q368R Missense 2/6 -
5-68709884-G-A RAD17 c.1778G>A p.R593K Missense 19/19 -
5-43613046-A-G NNT c.188A>G p.K63R Missense 3/22 -
11-48166267-G-C PTPRJ c.2616G>C p.E872D Missense 13/25 -
6-144747444-G-A UTRN c.427G>A p.V143I Missense 6/74 -
8-144557681-C-T ZC3H3 c.1790G>A p.R597Q Missense 5/12 -
20-16360654-T-C KIF16B c.1993A>G p.I665V Missense 19/26 -
2-136537941-C-G UBXN4 c.1374C>G p.S458R Missense 12/13 -
2-136537941-C-A UBXN4 c.1374C>A p.S458R Missense 12/13 -
17-8644854-C-T CCDC42 c.430G>A p.A144T Missense 4/7 -
6-36976637-G-C FGD2 c.96G>C p.Q32H Missense 2/16 -
15-41991300-A-T MGA c.2131A>T p.I711L Missense 5/24 -
3-122296638-G-A PARP15 c.124G>A p.V42M Missense 1/12 -
1-159856388-C-T CFAP45 c.680G>A p.R227Q Missense 6/12 -
9-130656852-C-T ST6GALNAC6 c.236G>A p.R79Q Missense 4/7 -
3-49698115-G-A BSN c.8837G>A p.R2946Q Missense 6/12 -
6-31936679-C-T SKIV2L c.3212C>T p.A1071V Missense 26/28 -
12-122186240-G-A TMEM120B c.197G>A p.R66H Missense 3/12 -
16-58752439-C-T GOT2 c.589G>A p.D197N Missense 5/10 -
14-91772264-C-A CCDC88C c.3202G>T p.A1068S Missense 19/30 -
14-94750486-T-C SERPINA10 c.1151A>G p.Q384R Missense 5/5 -
2-209108317-C-T IDH1 c.532G>A p.V178I Missense 6/10 -
1-110231746-A-G GSTM1 c.254A>G p.N85S Missense 4/8 -
8-33246645-A-G FUT10 c.1048T>C p.Y350H Missense 4/5 -
2-21225500-A-G APOB c.12794T>C p.V4265A Missense 29/29 -
14-74970041-A-G LTBP2 c.4769T>C p.V1590A Missense 33/36 -
18-5419723-C-T EPB41L3 c.1493G>A p.R498Q Missense 12/23 -
2-21229446-G-C APOB c.10294C>G p.Q3432E Missense 26/29 -
7-5413923-C-T TNRC18 c.2992G>A p.A998T Missense 10/30 -
16-3716025-A-T TRAP1 c.1330T>A p.Y444N Missense 12/18 -
3-111710398-A-G ABHD10 c.751A>G p.I251V Missense 5/5 -
6-90347511-T-C LYRM2 c.136A>G p.K46E Missense 2/3 -
6-33048640-A-G HLA-DPB1 c.292A>G p.K98E Missense 2/6 -
2-99949559-T-C TXNDC9 c.115A>G p.M39V Missense 2/5 -
9-102677589-T-C STX17 c.68T>C p.I23T Missense 2/8 -
9-134334588-A-G PRRC2B c.1249A>G p.M417V Missense 11/32 -
6-88125473-A-G CFAP206 c.353A>G p.D118G Missense 5/13 -
1-196918738-C-T CFHR2 c.212C>T p.T71M Missense 2/5 -
13-20425911-C-A ZMYM5 c.410G>T p.C137F Missense 3/8 -
15-42235316-C-T EHD4 c.460G>A p.V154I Missense 3/6 -
17-1782952-A-G RPA1 c.1051A>G p.T351A Missense 11/17 -
16-71318001-G-T CMTR2 c.1823C>A p.T608K Missense 3/3 -
19-41074162-G-A SPTBN4 c.6930G>A p.M2310I Missense 31/36 -
19-3821408-G-A ZFR2 c.1561C>T p.R521C Missense 10/19 -
1-201869257-G-A LMOD1 c.884C>T p.T295M Missense 2/3 -
22-37581383-C-T C1QTNF6 c.164G>A p.G55D Missense 2/3 -
2-26679362-G-A DRC1 c.2200G>A p.V734M Missense 17/17 -
2-198359436-T-C HSPD1 c.551A>G p.N184S Missense 5/12 -
3-58395863-A-G PXK c.1442A>G p.K481R Missense 16/18 -
X-19375782-A-C PDHA1 c.844A>C p.M282L Missense 9/11 -
11-124252963-A-T OR8B2 c.277T>A p.S93T Missense 2/2 -
2-233127938-C-G DIS3L2 c.1447C>G p.R483G Missense 13/21 -
9-124088908-C-G GSN c.1535C>G p.T512S Missense 13/18 -
1-9811653-C-T CLSTN1 c.527G>A p.G176E Missense 5/19 -
1-220193423-T-C EPRS1 c.1256A>G p.Y419C Missense 10/32 -
2-172691260-C-T SLC25A12 c.728G>A p.R243K Missense 7/18 -
19-58437754-T-A ZNF418 c.1795A>T p.T599S Missense 4/6 -
13-103528048-C-T ERCC5 c.3356C>T p.A1119V Missense 15/15 -
2-198351804-C-G HSPD1 c.1688G>C p.G563A Missense 12/12 -
2-202400872-G-A C2CD6 c.1378C>T p.P460S Missense 13/16 -
5-159437621-C-G TTC1 c.86C>G p.A29G Missense 2/8 -
5-160042903-G-T ATP10B c.2595C>A p.N865K Missense 17/26 -
20-5966763-A-G MCM8 c.2149A>G p.I717V Missense 16/19 -
14-20924167-G-C APEX1 c.153G>C p.Q51H Missense 3/5 -
12-6711147-C-G CHD4 c.417G>C p.E139D Missense 4/40 -
2-169824983-T-C ABCB11 c.2029A>G p.M677V Missense 17/28 -
3-52378540-G-T DNAH1 c.1321G>T p.V441L Missense 9/78 -
7-100486754-G-C UFSP1 c.139C>G p.L47V Missense 1/1 -
15-85525556-C-G PDE8A c.163C>G p.L55V Missense 1/22 -
14-91780445-G-A CCDC88C c.1715C>T p.S572L Missense 15/30 -
7-51096036-G-C COBL c.2757C>G p.H919Q Missense 10/13 -
2-166747445-G-C TTC21B c.3004C>G p.L1002V Missense 23/29 -
9-132580901-C-G TOR1A c.646G>C p.D216H Missense 4/5 -
11-73717247-C-T UCP3 c.304G>A p.V102I Missense 3/7 -
6-31603189-G-A PRRC2A c.5320G>A p.V1774M Missense 23/31 -
12-110013879-G-A MVK c.155G>A p.S52N Missense 3/11 -
2-17963123-A-G GEN1 c.2644A>G p.K882E Missense 14/14 -
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 -
19-5692192-C-T LONP1 c.2731G>A p.V911I Missense 18/18 -
12-53293585-C-A KRT8 c.955G>T p.A319S Missense 5/8 -
X-27840405-G-A MAGEB10 c.982G>A p.V328I Missense 3/3 -
1-237730059-C-T RYR2 c.3407C>T p.A1136V Missense 28/105 -
1-237841390-A-G RYR2 c.8873A>G p.Q2958R Missense 61/105 -
10-61831290-T-C ANK3 c.9349A>G p.I3117V Missense 37/44 -
10-61831984-G-T ANK3 c.8655C>A p.H2885Q Missense 37/44 -
10-5138747-A-G AKR1C3 c.230A>G p.E77G Missense 2/9 -
17-79954544-T-A ASPSCR1 c.755T>A p.L252Q Missense 7/16 -
12-57578673-G-A LRP1 c.6238G>A p.D2080N Missense 39/89 -
11-124791314-T-C HEPACAM c.971A>G p.N324S Missense 7/7 -
5-159659262-G-A FABP6 c.225G>A p.M75I Missense 2/4 -
1-197070697-T-C ASPM c.7684A>G p.S2562G Missense 18/28 -
17-56787304-G-A RAD51C c.790G>A p.G264S Missense 5/9 -
14-20925270-G-A APEX1 c.560G>A p.R187H Missense 5/5 -
2-209108301-T-C IDH1 c.548A>G p.Y183C Missense 6/10 -
16-65022234-C-G CDH11 c.825G>C p.M275I Missense 7/13 -
16-65022234-C-T CDH11 c.825G>A p.M275I Missense 7/13 -
16-65022234-C-A CDH11 c.825G>T p.M275I Missense 7/13 -
11-62290719-A-G AHNAK c.11170T>C p.S3724P Missense 5/5 -
2-242204015-T-C HDLBP c.82A>G p.T28A Missense 4/28 -
11-33777334-C-T FBXO3 c.661G>A p.V221I Missense 5/11 -
14-64935411-C-T AKAP5 c.299C>T p.P100L Missense 2/2 -
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 -
2-242674803-G-A D2HGDH c.164G>A p.R55Q Missense 2/10 -
2-190924861-A-G MSTN c.674T>C p.I225T Missense 2/3 -
14-24620821-A-T RNF31 c.1865A>T p.Q622L Missense 10/21 -
10-61831271-T-C ANK3 c.9368A>G p.K3123R Missense 37/44 -
10-101157438-G-C GOT1 c.1108C>G p.Q370E Missense 9/9 -
X-19560176-A-C SH3KBP1 c.1759T>G p.S587A Missense 16/18 -
2-173339808-G-A ITGA6 c.1138G>A p.A380T Missense 7/26 -
1-47765811-T-C STIL c.467A>G p.H156R Missense 6/17 -
5-80409526-T-C RASGRF2 c.2257T>C p.S753P Missense 15/27 -
3-53263383-A-G TKT c.1177T>C p.F393L Missense 9/14 -
2-21232044-C-T APOB c.7696G>A p.E2566K Missense 26/29 -
2-110959026-G-T NPHP1 c.115C>A p.P39T Missense 2/20 -
5-180048641-G-A FLT4 c.1921C>T p.P641S Missense 13/30 -
10-101912064-T-C ERLIN1 c.871A>G p.I291V Missense 11/11 -
22-21165311-T-C PI4KA c.1015A>G p.I339V Missense 9/55 -
9-131341997-T-G SPTAN1 c.1303T>G p.S435A Missense 10/57 -
17-8159165-G-A PFAS c.617G>A p.R206H Missense 6/28 -
9-135203409-A-T SETX c.3576T>A p.D1192E Missense 10/26 -
2-217012977-G-T XRCC5 c.1648G>T p.A550S Missense 14/21 -
14-69369274-C-T ACTN1 c.682G>A p.V228I Missense 8/22 -
1-156507025-C-T IQGAP3 c.3370G>A p.A1124T Missense 27/38 -
1-156641537-C-T NES c.2443G>A p.V815I Missense 4/4 -
3-98307696-T-G CPOX c.814A>C p.N272H Missense 4/7 -
9-139235415-C-T GPSM1 c.1172C>T p.S391L Missense 9/14 -
9-124072992-G-A GSN c.382G>A p.V128M Missense 5/18 -
9-8486142-A-G PTPRD c.2675T>C p.V892A Missense 28/46 -
16-15808876-C-G MYH11 c.5676G>C p.E1892D Missense 40/41 -
9-139368953-G-A SEC16A c.3115C>T p.R1039C Missense 3/32 -
19-2109157-T-C AP3D1 c.3400A>G p.I1134V Missense 30/32 -
1-19199448-G-T ALDH4A1 c.1583C>A p.T528N Missense 15/15 -
20-60892545-C-T LAMA5 c.7367G>A p.R2456H Missense 55/80 -
11-108032233-C-A NPAT c.3580G>T p.G1194C Missense 17/18 -
16-3708170-C-T TRAP1 c.2075G>A p.R692H Missense 18/18 -
2-27887034-C-A SLC4A1AP c.415C>A p.P139T Missense 1/14 -
9-136501756-G-C DBH c.263G>C p.G88A Missense 1/12 -
12-52994896-A-G KRT72 c.341T>C p.M114T Missense 1/9 -
19-45316704-T-A BCAM c.611T>A p.M204K Missense 6/15 -
19-39218649-G-A ACTN4 c.2401G>A p.V801M Missense 19/21 -
6-31324615-C-T HLA-B c.193G>A p.A65T Missense 2/8 -
21-38081500-G-A SIM2 c.208G>A p.A70T Missense 2/11 -
18-8636320-A-G RAB12 c.586A>G p.I196V Missense 5/6 -
9-124089692-C-T GSN c.1694C>T p.T565M Missense 14/18 -
5-138160248-G-C CTNNA1 c.618G>C p.Q206H Missense 6/18 -
20-3577062-G-A ATRN c.3455G>A p.R1152K Missense 21/29 -
4-91230579-G-A CCSER1 c.1144G>A p.G382S Missense 2/11 -
10-30316208-T-C KIAA1462 c.2869A>G p.R957G Missense 3/4 -
16-78149000-C-T WWOX c.358C>T p.R120W Missense 4/9 -
4-164246489-T-G NPY1R c.1121A>C p.K374T Missense 3/3 -
6-31239417-C-T HLA-C c.302G>A p.S101N Missense 2/8 -
21-44317156-A-C NDUFV3 c.168A>C p.K56N Missense 2/4 -
6-3012778-G-A NQO2 c.173G>A p.G58D Missense 4/7 -
3-46501282-CT-GC LTF c.70_71delAGinsGC p.S24A Missense 2/17 -
4-47839939-C-T CORIN c.28G>A p.E10K Missense 1/22 -
11-70118489-G-A PPFIA1 c.211G>A p.V71I Missense 2/28 -
3-156413682-A-C TIPARP c.1115A>C p.N372T Missense 4/6 -
1-145608556-C-T POLR3C c.251G>A p.R84Q Missense 3/16 -
12-53516878-G-A SOAT2 c.1250G>A p.R417Q Missense 13/15 -
10-5008137-A-G AKR1C1 c.116A>G p.K39R Missense 2/9 -
1-21926100-C-A RAP1GAP c.1663G>T p.A555S Missense 21/25 -
11-18102014-G-A SAAL1 c.1357C>T p.R453C Missense 12/12 -
11-118352769-G-A KMT2A c.3974G>A p.S1325N Missense 7/36 -
1-179783287-C-G FAM163A c.467C>G p.A156G Missense 5/5 -
11-93148179-T-C DEUP1 c.1537T>C p.C513R Missense 13/14 -
11-94760037-G-A KDM4E c.1316G>A p.R439H Missense 1/1 -
13-111335406-C-T CARS2 c.647G>A p.G216E Missense 6/15 -
1-32145693-C-T COL16A1 c.2620G>A p.G874R Missense 40/71 -
10-134021576-C-T STK32C c.1399G>A p.E467K Missense 12/12 -
14-23346317-G-A LRP10 c.1723G>A p.A575T Missense 7/7 -
16-67325711-C-T KCTD19 c.2248G>A p.E750K Missense 13/16 -
19-23926428-C-T ZNF681 c.1924G>A p.G642S Missense 4/4 -
16-88782050-G-A PIEZO1 c.7529C>T p.P2510L Missense 51/51 -
17-7324877-G-A SPEM1 c.883G>A p.E295K Missense 3/3 -
19-8326944-G-A CERS4 c.1136G>A p.R379Q Missense 12/12 -
19-2226772-G-C DOT1L c.4252G>C p.V1418L Missense 27/28 -
19-55594996-C-G EPS8L1 c.1369C>G p.Q457E Missense 14/20 -
17-9792903-G-A GLP2R c.1543G>A p.A515T Missense 13/13 -
19-55823344-G-A BRSK1 c.2245G>A p.G749S Missense 19/19 -
21-47558552-G-A FTCD c.1313C>T p.A438V Missense 12/14 -
22-29885204-G-C NEFH c.1575G>C p.K525N Missense 4/4 -
22-29885473-C-T NEFH c.1844C>T p.P615L Missense 4/4 -
2-27167617-G-A DPYSL5 c.1534G>A p.A512T Missense 12/13 -
2-209035751-G-A C2orf80 c.491C>T p.A164V Missense 8/9 -
22-42307226-T-C SHISA8 c.658A>G p.S220G Missense 2/4 -
20-1918204-C-T SIRPA c.1505C>T p.P502L Missense 8/8 -
18-5397128-G-A EPB41L3 c.2770C>T p.R924C Missense 18/23 -
3-48664473-C-T SLC26A6 c.1909G>A p.D637N Missense 18/21 -
18-5397404-A-C EPB41L3 c.2494T>G p.S832A Missense 18/23 -
5-60448723-G-A NDUFAF2 c.451G>A p.G151S Missense 4/4 -
3-49701910-C-T BSN c.11663C>T p.P3888L Missense 9/12 -
22-46724731-C-G GTSE1 c.1871C>G p.A624G Missense 10/12 -
3-126748749-A-G PLXNA1 c.4903A>G p.S1635G Missense 28/32 -
22-37407109-G-C TST c.853C>G p.P285A Missense 3/3 -
2-219528898-C-G RNF25 c.1162G>C p.E388Q Missense 10/10 -
21-46387078-G-T SLX9 c.482G>T p.S161I Missense 4/6 -
4-71471905-G-A AMBN c.802G>A p.G268R Missense 13/13 -
6-36652117-C-T CDKN1A c.239C>T p.T80M Missense 2/3 -
9-139934887-G-A NPDC1 c.710C>T p.P237L Missense 7/9 -
8-24208774-A-T ADAM28 c.2129A>T p.H710L Missense 20/23 -
6-133091458-A-T SLC18B1 c.1322T>A p.I441N Missense 14/14 -
X-71801001-T-C PHKA1 c.3523A>G p.M1175V Missense 32/32 -
9-138395969-A-G MRPS2 c.881A>G p.H294R Missense 4/4 -
6-10942964-A-G SYCP2L c.1939A>G p.N647D Missense 23/30 -
9-5906952-A-T MLANA c.242A>T p.H81L Missense 4/5 -
4-982821-C-A IDUA c.299+1084C>A - IntronicSNV - 2/13
8-71646136-G-A XKR9 c.599G>A p.C200Y Missense 5/5 -
4-74274363-A-G ALB c.323A>G p.Y108C Missense 4/15 -
12-58128378-C-G AGAP2 c.1312G>C p.E438Q Missense 3/19 -
19-33183191-G-A NUDT19 c.325G>A p.D109N Missense 1/3 -
10-5435783-G-C TUBAL3 c.1038C>G p.H346Q Missense 4/4 -
7-128480652-G-A FLNC c.1600G>A p.E534K Missense 10/48 -
12-6646375-A-G GAPDH c.436A>G p.I146V Missense 6/9 -
6-491150-C-A EXOC2 c.2596G>T p.A866S Missense 26/28 -
19-54376826-A-T MYADM c.43A>T p.T15S Missense 3/3 -
20-25228984-C-G PYGB c.170C>G p.A57G Missense 1/20 -
11-70271499-T-G CTTN c.1019T>G p.V340G Missense 13/18 -
22-17468886-G-A GAB4 c.650C>T p.S217L Missense 3/10 -
20-25398748-C-T GINS1 c.247C>T p.R83C Missense 4/7 -
11-111624270-T-C PPP2R1B c.1061A>G p.K354R Missense 9/15 -
20-2398064-G-A TGM6 c.1523G>A p.G508D Missense 10/13 -
10-45480356-G-A RASSF4 c.469G>A p.G157S Missense 6/11 -
6-129513837-A-G LAMA2 c.1621A>G p.S541G Missense 12/65 -
5-132097292-C-T SEPTIN8 c.820G>A p.V274M Missense 7/10 -
8-67356832-C-G ADHFE1 c.202C>G p.L68V Missense 5/14 -
10-98369519-G-A PIK3AP1 c.2120C>T p.T707M Missense 14/17 -
14-93399011-G-A CHGA c.1105G>A p.D369N Missense 7/8 -
3-439968-G-C CHL1 c.3153G>C p.E1051D Missense 25/28 -
6-152671448-G-A SYNE1 c.11756C>T p.A3919V Missense 72/146 -
2-190660537-G-A PMS1 c.175G>A p.E59K Missense 3/13 -
9-79908273-G-A VPS13A c.3356G>A p.G1119E Missense 32/72 -
2-65216842-C-T SLC1A4 c.65C>T p.P22L Missense 1/8 -
11-792640-C-T SLC25A22 c.500G>A p.R167Q Missense 7/10 -
20-1433259-G-A NSFL1C c.664C>T p.L222F Missense 7/9 -
19-51871194-C-T CLDND2 c.256G>A p.D86N Missense 2/4 -
10-97154830-T-C SORBS1 c.1225A>G p.T409A Missense 14/33 -
X-50659009-T-C BMP15 c.581T>C p.F194S Missense 2/2 -
17-64738819-A-G PRKCA c.1465A>G p.M489V Missense 13/17 -
1-152129087-T-C RPTN c.488A>G p.K163R Missense 3/3 -
X-23723711-C-G ACOT9 c.934G>C p.E312Q Missense 13/16 -
14-88442712-C-T GALC c.742G>A p.D248N Missense 7/17 -
12-113321161-G-T RPH3A c.1390G>T p.V464L Missense 16/22 -
1-158597507-G-C SPTA1 c.5572C>G p.L1858V Missense 40/52 -
5-112173324-G-A APC c.2033G>A p.S678N Missense 16/16 -
4-72622601-T-C GC c.862A>G p.N288D Missense 8/13 -
16-77918617-G-A VAT1L c.995G>A p.R332Q Missense 7/9 -
5-52398005-T-C MOCS2 c.148A>G p.T50A Missense 4/7 -
16-81010073-C-T CMC2 c.157G>A p.V53I Missense 4/4 -
1-949608-G-A ISG15 c.248G>A p.S83N Missense 2/2 -
9-104152846-G-A MRPL50 c.379C>T p.L127F Missense 2/2 -
1-46032311-A-G AKR1A1 c.155A>G p.N52S Missense 3/9 -
9-140611197-G-A EHMT1 c.205G>A p.A69T Missense 3/27 -
21-35281421-T-C ATP5PO c.293A>G p.K98R Missense 4/7 -
1-151374025-T-C PSMB4 c.701T>C p.I234T Missense 6/7 -
7-92734983-A-G SAMD9 c.428T>C p.I143T Missense 3/3 -
12-7090193-A-G LPCAT3 c.650T>C p.I217T Missense 6/13 -
2-98263883-A-G COX5B c.254A>G p.N85S Missense 3/4 -
10-91065949-A-C IFIT2 c.236A>C p.E79A Missense 2/2 -
13-28004098-T-C GTF3A c.394T>C p.Y132H Missense 3/9 -
19-17212987-CT-AG MYO9B c.460_461delCTinsAG p.L154S Missense 2/40 -
4-3526645-C-T LRPAP1 c.338G>A p.R113H Missense 2/8 -
8-20068700-A-G ATP6V1B2 c.476A>G p.N159S Missense 6/14 -
19-17622737-G-A PGLS c.256G>A p.D86N Missense 1/5 -
9-100823135-G-C NANS c.204G>C p.E68D Missense 2/6 -
17-5271763-G-A RABEP1 c.1884G>A p.M628I Missense 12/18 -
4-3526642-T-C LRPAP1 c.341A>G p.N114S Missense 2/8 -
17-45904420-C-T MRPL10 c.373G>A p.V125I Missense 3/5 -
2-70037739-C-G ANXA4 c.411C>G p.S137R Missense 7/13 -
8-98703317-A-G MTDH c.949A>G p.T317A Missense 6/12 -
6-151751283-T-C RMND1 c.719A>G p.K240R Missense 5/12 -
20-32664601-C-A RALY c.638C>A p.A213E Missense 7/10 -
16-2263836-C-T PGP c.859G>A p.G287R Missense 2/2 -
7-56125757-A-G CCT6A c.686A>G p.Y229C Missense 6/14 -
1-31842320-T-C FABP3 c.158A>G p.K53R Missense 2/4 -
4-68534392-C-T UBA6 c.670G>A p.A224T Missense 9/33 -
10-70748784-G-A KIFBP c.196G>A p.G66S Missense 1/7 -
10-105762909-C-G SLK c.1973C>G p.A658G Missense 9/19 -
1-36898067-T-C OSCP1 c.391A>G p.T131A Missense 3/10 -
19-13059563-G-A RAD23A c.536G>A p.R179Q Missense 5/9 -
20-3180666-C-A DDRGK1 c.491G>T p.R164L Missense 4/9 -
18-13008615-C-G CEP192 c.451C>G p.L151V Missense 4/45 -
19-1397443-G-A GAMT c.626C>T p.T209M Missense 6/6 -
15-102264476-C-A TARS3 c.115G>T p.A39S Missense 1/19 -
16-1877558-G-A FAHD1 c.328G>A p.D110N Missense 1/1 -
11-102248377-C-T BIRC2 c.1517C>T p.A506V Missense 7/9 -
22-30163526-A-G UQCR10 c.139A>G p.I47V Missense 1/2 -
7-39610177-A-G YAE1 c.202A>G p.K68E Missense 2/3 -
7-102952123-G-T PMPCB c.1188G>T p.E396D Missense 10/13 -
17-56436127-C-T RNF43 c.1010G>A p.R337Q Missense 9/10 -
3-7494417-A-T GRM7 c.1298A>T p.Y433F Missense 6/10 -
7-2472455-A-T CHST12 c.181A>T p.T61S Missense 2/2 -
10-112572607-G-T RBM20 c.2452G>T p.A818S Missense 9/14 -
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 -
16-1254271-G-A CACNA1H c.2264G>A p.G755D Missense 10/35 -
2-202626242-C-T ALS2 c.475G>A p.E159K Missense 4/34 -
1-180013235-T-G CEP350 c.4549T>G p.S1517A Missense 21/38 -
7-102944355-G-A PMPCB c.524G>A p.R175H Missense 5/13 -
17-5461671-G-C NLRP1 c.2345C>G p.T782S Missense 4/17 -
15-64275867-C-T DAPK2 c.179G>A p.R60Q Missense 3/12 -
2-219678877-C-T CYP27A1 c.1151C>T p.P384L Missense 6/9 -
20-62076674-C-T KCNQ2 c.431G>A p.R144Q Missense 3/17 -
22-46658832-C-T PKDREJ c.388G>A p.V130M Missense 1/1 -
8-37690649-G-A ADGRA2 c.1219G>A p.G407S Missense 9/19 -
1-153926078-T-C CRTC2 c.439A>G p.M147V Missense 5/14 -
5-140795128-T-C PCDHGB4 c.2397+25280T>C - IntronicSNV - 1/3
4-47537548-G-A ATP10D c.799G>A p.V267M Missense 6/23 -
14-102898363-C-T TECPR2 c.1315C>T p.P439S Missense 8/20 -
19-4714275-G-A DPP9 c.131C>T p.A44V Missense 4/22 -
X-100490911-C-G DRP2 c.180C>G p.S60R Missense 4/24 -
X-100490911-C-A DRP2 c.180C>A p.S60R Missense 4/24 -
X-100490909-A-C DRP2 c.178A>C p.S60R Missense 4/24 -
19-7992976-T-C TIMM44 c.1114A>G p.I372V Missense 11/13 -
9-71851039-A-T TJP2 c.1876A>T p.T626S Missense 13/23 -
12-29659798-C-T TMTC1 c.2630G>A p.R877Q Missense 18/18 -
20-7963041-C-G TMX4 c.907G>C p.G303R Missense 8/8 -
1-23845566-G-A E2F2 c.794C>T p.T265I Missense 5/7 -
1-19212007-G-A ALDH4A1 c.413C>T p.P138L Missense 5/15 -
22-37964189-T-G CDC42EP1 c.538T>G p.S180A Missense 3/3 -
11-103026168-C-A DYNC2H1 c.3682C>A p.L1228I Missense 25/89 -
8-143436034-A-G TSNARE1 c.52T>C p.F18L Missense 2/14 -
20-34785935-C-G EPB41L1 c.1640C>G p.P547R Missense 14/22 -
20-34797801-C-T EPB41L1 c.2060C>T p.P687L Missense 15/22 -
12-1137217-A-G ERC1 c.148A>G p.S50G Missense 2/19 -
17-10404032-T-C MYH1 c.3776A>G p.Q1259R Missense 28/40 -
2-239039312-C-T ESPNL c.1957C>T p.R653W Missense 9/9 -
9-34972352-G-A PHF24 c.388G>A p.D130N Missense 3/8 -
5-159659262-G-C FABP6 c.225G>C p.M75I Missense 2/4 -
5-159659262-G-T FABP6 c.225G>T p.M75I Missense 2/4 -
17-80046994-C-T FASN c.2155G>A p.E719K Missense 14/43 -
13-99083321-C-T FARP1 c.1930C>T p.H644Y Missense 18/27 -
1-75188902-C-T CRYZ c.164G>A p.R55H Missense 3/9 -
10-11505743-G-A USP6NL c.1184C>T p.P395L Missense 15/15 -
2-85843431-C-T USP39 c.113C>T p.P38L Missense 1/13 -
12-13128263-C-G HEBP1 c.549G>C p.E183D Missense 4/4 -
X-135292164-G-A FHL1 c.871G>A p.D291N Missense 6/6 -
16-2946698-C-G FLYWCH2 c.248C>G p.T83S Missense 3/4 -
5-56778225-T-C ACTBL2 c.310A>G p.I104V Missense 1/1 -
19-4312042-C-G FSD1 c.694C>G p.L232V Missense 7/13 -
12-64815144-A-G XPOT c.973A>G p.I325V Missense 9/25 -
14-68249499-C-T ZFYVE26 c.4370G>A p.C1457Y Missense 21/42 -
14-104194228-A-G ZFYVE21 c.335A>G p.K112R Missense 3/7 -
14-68265135-G-A ZFYVE26 c.1844C>T p.S615F Missense 11/42 -
19-19744988-C-T GMIP c.2096G>A p.R699Q Missense 19/21 -
16-30581676-C-A ZNF688 c.392G>T p.S131I Missense 3/3 -
1-9165669-G-A GPR157 c.668C>T p.A223V Missense 3/4 -
X-48838048-T-G GRIPAP1 c.1733A>C p.E578A Missense 19/26 -
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 -
20-47634040-A-T ARFGEF2 c.4462A>T p.T1488S Missense 33/39 -
10-90673047-G-A STAMBPL1 c.610G>A p.E204K Missense 6/11 -
19-12876964-G-C HOOK2 c.1464C>G p.H488Q Missense 15/23 -
16-22826241-T-C HS3ST2 c.310T>C p.S104P Missense 1/2 -
10-24922388-T-C ARHGAP21 c.383A>G p.N128S Missense 6/26 -
3-12544829-G-A TSEN2 c.377G>A p.R126H Missense 5/12 -
10-88730271-G-A ADIRF c.163G>A p.D55N Missense 3/3 -
11-82996986-A-T CCDC90B c.30T>A p.F10L Missense 1/9 -
X-78618630-T-C ITM2A c.250A>G p.I84V Missense 3/6 -
12-234939-C-G IQSEC3 c.764C>G p.A255G Missense 3/14 -
1-6531589-C-T PLEKHG5 c.1240G>A p.A414T Missense 12/21 -
22-43579049-T-C TTLL12 c.284A>G p.N95S Missense 2/14 -
11-118656770-G-T DDX6 c.191C>A p.T64N Missense 2/14 -
15-57731728-A-G CGNL1 c.1531A>G p.T511A Missense 2/19 -
21-31802880-G-A KRTAP13-4 c.287G>A p.G96D Missense 1/1 -
X-119580269-A-C LAMP2 c.755T>G p.I252S Missense 6/9 -
2-20824498-C-T HS1BP3 c.778G>A p.V260M Missense 5/7 -
3-39108050-T-G WDR48 c.280T>G p.S94A Missense 4/19 -
19-5711910-C-T LONP1 c.742G>A p.D248N Missense 4/18 -
12-53242579-C-T KRT78 c.136G>A p.G46R Missense 1/9 -
5-149006640-C-T ARHGEF37 c.1466C>T p.P489L Missense 11/13 -
3-12962074-G-A IQSEC1 c.1876C>T p.P626S Missense 6/15 -
6-76640803-G-A IMPG1 c.2110C>T p.R704W Missense 15/17 -
19-17305607-A-G MYO9B c.3371A>G p.E1124G Missense 22/40 -
15-75969335-C-T CSPG4 c.5525G>A p.R1842Q Missense 10/10 -
2-38604351-A-T ATL2 c.52T>A p.W18R Missense 1/13 -
2-38604351-A-G ATL2 c.52T>C p.W18R Missense 1/13 -
1-62740264-T-C KANK4 c.512A>G p.H171R Missense 3/10 -
19-53344919-T-G ZNF468 c.628A>C p.M210L Missense 4/4 -
10-70645376-A-T STOX1 c.1824A>T p.E608D Missense 3/4 -
15-42168400-C-T SPTBN5 c.4034G>A p.R1345H Missense 21/68 -
3-16364954-C-T RFTN1 c.1261G>A p.V421I Missense 9/10 -
1-151015564-G-A BNIPL c.566G>A p.R189H Missense 5/10 -
3-48309828-C-G ZNF589 c.647C>G p.T216R Missense 4/4 -
19-20808143-T-G ZNF626 c.540A>C p.K180N Missense 4/4 -
19-20808143-T-A ZNF626 c.540A>T p.K180N Missense 4/4 -
16-30566747-G-A ZNF764 c.992C>T p.A331V Missense 3/3 -
5-17275966-C-T BASP1 c.641C>T p.A214V Missense 2/2 -
5-56778305-A-G ACTBL2 c.230T>C p.V77A Missense 1/1 -
17-3947644-T-C ZZEF1 c.6040A>G p.I2014V Missense 38/55 -
12-51068409-G-A DIP2B c.793G>A p.D265N Missense 6/38 -
15-43817500-A-G MAP1A c.3829A>G p.T1277A Missense 4/6 -
11-47306628-G-A MADD c.2294G>A p.R765Q Missense 13/36 -
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 -
7-21640361-T-C DNAH11 c.3068T>C p.V1023A Missense 16/82 -
18-74728823-C-T MBP c.541G>A p.G181S Missense 4/9 -
17-1674434-C-G SERPINF1 c.395C>G p.P132R Missense 4/8 -
18-48458662-G-A ME2 c.1349G>A p.G450E Missense 13/16 -
6-30673013-A-G MDC1 c.3947T>C p.M1316T Missense 10/15 -
9-100823135-G-T NANS c.204G>T p.E68D Missense 2/6 -
2-232457880-T-C TEX44 c.218T>C p.V73A Missense 1/1 -
20-55088404-A-G RTF2 c.511A>G p.M171V Missense 6/9 -
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 -
19-6913707-C-T ADGRE1 c.1166C>T p.T389M Missense 11/21 -
1-110301260-C-T EPS8L3 c.487G>A p.G163S Missense 7/19 -
14-75360066-C-T DLST c.611C>T p.P204L Missense 9/15 -
20-60899206-C-T LAMA5 c.5698G>A p.V1900M Missense 43/80 -
1-205389592-G-A LEMD1 c.73C>T p.P25S Missense 2/6 -
2-211085491-G-A ACADL c.113C>T p.T38I Missense 2/11 -
4-184612553-G-C TRAPPC11 c.1978G>C p.V660L Missense 19/30 -
21-37734516-T-C MORC3 c.1442T>C p.M481T Missense 13/17 -
16-24788645-T-A TNRC6A c.555T>A p.N185K Missense 5/25 -
2-131520178-C-G AMER3 c.533C>G p.A178G Missense 2/2 -
14-77845121-A-G SAMD15 c.1360A>G p.K454E Missense 1/3 -
22-32111362-T-C PRR14L c.2463A>G p.I821M Missense 4/9 -
1-6705944-C-T DNAJC11 c.799G>A p.V267M Missense 8/16 -
17-72306291-G-A DNAI2 c.1483G>A p.V495I Missense 11/14 -
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 -
1-162367103-G-C SH2D1B c.366C>G p.N122K Missense 4/4 -
12-93181768-C-A EEA1 c.3025G>T p.A1009S Missense 22/29 -
11-62291953-A-T AHNAK c.9936T>A p.D3312E Missense 5/5 -
22-45749966-G-C SMC1B c.3165C>G p.F1055L Missense 21/25 -
11-119185677-T-C MCAM c.266A>G p.E89G Missense 3/16 -
4-104098100-T-C CENPE c.1346A>G p.K449R Missense 14/49 -
6-33257969-C-T PFDN6 c.83C>T p.S28L Missense 2/4 -
5-149003626-G-A ARHGEF37 c.1387G>A p.A463T Missense 10/13 -
11-6789929-C-A OR2AG2 c.260G>T p.R87L Missense 2/2 -
1-152957832-C-G SPRR1A c.126C>G p.H42Q Missense 2/2 -
15-59806496-G-T FAM81A c.659G>T p.G220V Missense 7/9 -
4-187630597-C-G FAT1 c.385G>C p.V129L Missense 2/27 -
16-4431360-G-A VASN c.482G>A p.R161Q Missense 2/2 -
6-168463624-G-A FRMD1 c.820C>T p.R274C Missense 7/11 -
8-57026229-C-A MOS c.313G>T p.A105S Missense 1/1 -
17-78449948-C-T NPTX1 c.299G>A p.G100D Missense 1/5 -
3-49690627-G-A BSN c.3638G>A p.G1213D Missense 5/12 -
1-180010911-A-G CEP350 c.4336A>G p.T1446A Missense 19/38 -
9-111625629-C-G ACTL7A c.1027C>G p.L343V Missense 1/1 -
6-34498328-C-T PACSIN1 c.1001C>T p.A334V Missense 8/10 -
12-11183286-G-C TAS2R31 c.649C>G p.Q217E Missense 1/1 -
9-15571630-T-A CCDC171 c.50T>A p.I17N Missense 3/26 -
21-44317156-A-T NDUFV3 c.168A>T p.K56N Missense 2/4 -
9-79438584-T-C PRUNE2 c.720A>G p.I240M Missense 6/19 -
1-229631734-T-C NUP133 c.880A>G p.I294V Missense 7/26 -
12-32137565-G-A RESF1 c.3676G>A p.V1226I Missense 4/6 -
14-59950676-A-C L3HYPDH c.359T>G p.L120R Missense 1/5 -
15-90784930-C-A GDPGP1 c.790C>A p.P264T Missense 4/4 -
17-36714562-G-A SRCIN1 c.2102C>T p.A701V Missense 11/19 -
2-29383256-G-T CLIP4 c.1457G>T p.R486L Missense 12/16 -
11-62296535-T-C AHNAK c.5354A>G p.D1785G Missense 5/5 -
6-151672185-A-T AKAP12 c.2659A>T p.S887C Missense 4/5 -
1-35260202-G-A GJA4 c.388G>A p.V130I Missense 2/2 -
1-205033518-C-G CNTN2 c.1309C>G p.L437V Missense 11/23 -
2-69723170-G-C AAK1 c.2312C>G p.P771R Missense 17/22 -
1-89523756-G-T GBP1 c.793C>A p.Q265K Missense 6/11 -
2-208632817-G-A FZD5 c.647C>T p.P216L Missense 2/2 -
1-64095111-A-G PGM1 c.262A>G p.I88V Missense 2/11 -
19-4859631-G-T PLIN3 c.319C>A p.L107I Missense 4/8 -
6-17688693-C-T NUP153 c.268G>A p.D90N Missense 2/22 -
3-184801094-G-A C3orf70 c.454C>T p.P152S Missense 2/2 -
1-236734770-T-G HEATR1 c.3829A>C p.I1277L Missense 28/45 -
6-85473758-C-G TBX18 c.142G>C p.G48R Missense 1/8 -
1-247151487-C-T ZNF695 c.330G>A p.M110I Missense 4/4 -
1-71536574-G-C ZRANB2 c.619C>G p.R207G Missense 7/10 -
1-6046264-G-A NPHP4 c.86C>T p.T29M Missense 2/30 -
1-228362682-G-A IBA57 c.631G>A p.G211S Missense 2/3 -
17-76060866-C-G TNRC6C c.2450C>G p.P817R Missense 5/22 -
9-116187302-C-G C9orf43 c.811C>G p.P271A Missense 9/14 -
4-170990375-C-T AADAT c.727G>A p.V243I Missense 7/13 -
21-47858248-A-G PCNT c.9271A>G p.S3091G Missense 41/47 -
1-64120039-G-A PGM1 c.1501G>A p.V501I Missense 10/11 -
16-2155426-T-C PKD1 c.7913A>G p.H2638R Missense 21/46 -
20-5904289-G-A CHGB c.1499G>A p.R500K Missense 4/5 -
11-45671452-G-A CHST1 c.1022C>T p.T341I Missense 4/4 -
12-104187732-G-T NT5DC3 c.797C>A p.A266E Missense 7/14 -
11-65416753-C-T SIPA1 c.2327C>T p.T776M Missense 10/16 -
9-19058921-G-A HAUS6 c.1844C>T p.A615V Missense 16/17 -
11-100061865-A-G CNTN5 c.1588A>G p.I530V Missense 14/25 -
14-70418985-C-T SMOC1 c.230C>T p.P77L Missense 2/12 -
13-19748038-C-T TUBA3C c.1318G>A p.V440M Missense 5/5 -
3-180377529-G-C CCDC39 c.545C>G p.T182S Missense 5/20 -
19-47768128-G-T CCDC9 c.645G>T p.E215D Missense 7/12 -
1-159854251-T-C CFAP45 c.872A>G p.E291G Missense 7/12 -
3-49689210-G-A BSN c.2221G>A p.A741T Missense 5/12 -
3-16419309-C-T RFTN1 c.742G>A p.E248K Missense 5/10 -
15-62254989-T-C VPS13C c.3394A>G p.I1132V Missense 33/85 -
16-89598369-G-A SPG7 c.1045G>A p.G349S Missense 8/17 -
1-12032953-G-A PLOD1 c.1927G>A p.V643I Missense 18/19 -
7-127326788-A-C SND1 c.200A>C p.Q67P Missense 2/24 -
15-62243197-T-C VPS13C c.4483A>G p.I1495V Missense 40/85 -
17-685752-G-A MRM3 c.134G>A p.G45E Missense 1/4 -
11-48166267-G-T PTPRJ c.2616G>T p.E872D Missense 13/25 -
11-34938272-C-G PDHX c.70C>G p.R24G Missense 1/11 -
12-133294371-A-G PGAM5 c.572A>G p.K191R Missense 4/6 -
7-94540527-G-A PPP1R9A c.1102G>A p.D368N Missense 2/20 -
19-49671952-G-A TRPM4 c.755G>A p.R252H Missense 6/25 -
1-154541971-T-G CHRNB2 c.98T>G p.V33G Missense 2/6 -
17-79517729-G-A FAAP100 c.791C>T p.A264V Missense 3/9 -
3-124449406-A-G UMPS c.88A>G p.S30G Missense 1/6 -
1-110302450-C-T EPS8L3 c.105G>A p.M35I Missense 4/19 -
9-71549847-G-A PIP5K1B c.1243G>A p.A415T Missense 13/16 -
6-15496930-C-T JARID2 c.1474C>T p.R492C Missense 7/18 -
14-75230953-C-T YLPM1 c.761C>T p.P254L Missense 1/21 -
3-184070588-C-G CLCN2 c.2154G>C p.E718D Missense 19/24 -
7-44444122-G-A NUDCD3 c.703C>T p.R235C Missense 4/6 -
16-29706444-C-T QPRT c.473C>T p.A158V Missense 2/4 -
2-242610172-A-G ATG4B c.989A>G p.N330S Missense 11/13 -
6-27879397-T-C OR2B2 c.701A>G p.Q234R Missense 1/1 -
16-47697618-A-G PHKB c.2309A>G p.Y770C Missense 24/31 -
1-151502966-C-G CGN c.2315C>G p.A772G Missense 13/21 -
5-96478219-G-A LIX1 c.62C>T p.P21L Missense 1/6 -
9-115652255-G-C SLC46A2 c.707C>G p.P236R Missense 1/4 -
6-46632594-T-C SLC25A27 c.590T>C p.I197T Missense 5/9 -
7-88964061-A-C ZNF804B c.1765A>C p.K589Q Missense 4/4 -
6-151672399-G-C AKAP12 c.2873G>C p.R958T Missense 4/5 -
4-71471905-G-C AMBN c.802G>C p.G268R Missense 13/13 -
6-151672774-C-T AKAP12 c.3248C>T p.A1083V Missense 4/5 -
11-62293925-C-A AHNAK c.7964G>T p.G2655V Missense 5/5 -
16-29791575-C-A ZG16 c.339C>A p.D113E Missense 4/4 -
10-79745881-T-C POLR3A c.2938A>G p.I980V Missense 22/31 -
3-135721781-C-G PPP2R3A c.1441C>G p.P481A Missense 2/14 -
7-133812220-G-A LRGUK c.100G>A p.A34T Missense 1/20 -
9-79324955-C-G PRUNE2 c.2235G>C p.M745I Missense 8/19 -
9-79324955-C-A PRUNE2 c.2235G>T p.M745I Missense 8/19 -
6-105776866-A-C PREP c.1051T>G p.L351V Missense 9/15 -
9-79320439-T-A PRUNE2 c.6751A>T p.I2251L Missense 8/19 -
9-79465455-C-T PRUNE2 c.268G>A p.D90N Missense 3/19 -
10-94714427-C-G EXOC6 c.1567C>G p.L523V Missense 16/22 -
17-40341909-G-A GHDC c.1405C>T p.R469C Missense 10/10 -
3-46592987-A-G LRRC2 c.95T>C p.V32A Missense 2/9 -
11-792692-G-C SLC25A22 c.448C>G p.L150V Missense 7/10 -
6-107088231-C-T QRSL1 c.32C>T p.A11V Missense 2/11 -
1-79358827-G-T ADGRL4 c.1797C>A p.H599Q Missense 13/15 -
1-15909850-C-T AGMAT c.313G>A p.G105R Missense 2/7 -
11-62294309-C-T AHNAK c.7580G>A p.G2527D Missense 5/5 -
1-16459836-A-G EPHA2 c.1892T>C p.M631T Missense 11/17 -
3-63645410-A-G SNTN c.155A>G p.K52R Missense 3/4 -
5-32263316-C-T MTMR12 c.616G>A p.D206N Missense 7/16 -
2-69736561-A-G AAK1 c.1808T>C p.V603A Missense 14/22 -
12-125561151-A-G AACS c.352A>G p.I118V Missense 3/18 -
1-22181895-C-T HSPG2 c.5899G>A p.V1967I Missense 47/97 -
14-77929028-T-C AHSA1 c.398T>C p.V133A Missense 4/9 -
18-2595443-G-T NDC80 c.1044G>T p.E348D Missense 11/17 -
19-10363251-A-C MRPL4 c.149A>C p.K50T Missense 3/9 -
1-70819679-C-A ANKRD13C c.413G>T p.G138V Missense 1/13 -
12-120907309-T-A SRSF9 c.104A>T p.Y35F Missense 1/4 -
7-16445813-G-A ISPD c.407C>T p.A136V Missense 2/10 -
4-47570876-G-A ATP10D c.2876G>A p.S959N Missense 16/23 -
18-61323259-A-T SERPINB3 c.805T>A p.W269R Missense 8/8 -
10-5931230-C-T ANKRD16 c.88G>A p.G30R Missense 1/8 -
10-5931230-C-G ANKRD16 c.88G>C p.G30R Missense 1/8 -
4-114279674-C-G ANK2 c.9900C>G p.S3300R Missense 38/46 -
4-114279672-A-C ANK2 c.9898A>C p.S3300R Missense 38/46 -
3-44852353-A-G KIF15 c.1987A>G p.T663A Missense 17/35 -
6-656555-G-T HUS1B c.390C>A p.H130Q Missense 1/1 -
20-58576432-A-G CDH26 c.2132A>G p.Q711R Missense 15/18 -
14-24546811-T-G CPNE6 c.1546T>G p.S516A Missense 16/17 -
9-74360234-C-T CEMIP2 c.734G>A p.R245K Missense 4/24 -
2-27887160-C-T SLC4A1AP c.541C>T p.R181C Missense 1/14 -
1-110709720-G-A SLC6A17 c.169G>A p.A57T Missense 2/12 -
17-47284735-T-C GNGT2 c.50A>G p.Q17R Missense 3/4 -
3-51929096-C-T IQCF1 c.428G>A p.R143H Missense 4/4 -
5-101834469-G-A SLCO6A1 c.80C>T p.A27V Missense 1/14 -
2-112990912-C-T ZC3H8 c.658G>A p.E220K Missense 6/9 -
17-18220268-A-G SMCR8 c.1165A>G p.I389V Missense 1/2 -
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 -
17-27943024-A-G CORO6 c.1232T>C p.L411P Missense 9/10 -
3-130293046-G-C COL6A6 c.3224G>C p.G1075A Missense 7/36 -
15-42171483-G-A SPTBN5 c.3157C>T p.H1053Y Missense 16/68 -
7-89891331-G-A CFAP69 c.317G>A p.R106H Missense 4/23 -
2-70488470-C-T PCYOX1 c.446C>T p.S149F Missense 3/6 -
2-118743630-G-A CCDC93 c.535C>T p.R179C Missense 7/24 -
X-49030770-C-A PLP2 c.434C>A p.T145N Missense 4/5 -
2-242498984-C-G BOK c.86C>G p.A29G Missense 2/5 -
6-26452211-C-T BTN3A3 c.1327C>T p.R443W Missense 11/11 -
16-21976762-G-A UQCRC2 c.548G>A p.R183Q Missense 7/14 -
5-33462212-G-A TARS1 c.1739G>A p.G580D Missense 16/19 -
X-77225099-C-T PGAM4 c.37G>A p.E13K Missense 1/1 -
6-76728524-C-T IMPG1 c.718G>A p.V240I Missense 7/17 -
9-5832928-G-C ERMP1 c.100C>G p.R34G Missense 1/15 -
17-32647357-A-T CCL8 c.146A>T p.E49V Missense 2/3 -
11-66358274-A-C CCDC87 c.2213T>G p.L738R Missense 1/1 -
2-152220510-A-G TNFAIP6 c.148A>G p.T50A Missense 2/6 -
13-100511247-G-A CLYBL c.382G>A p.V128I Missense 3/9 -
12-122817580-A-G CLIP1 c.2821T>C p.S941P Missense 15/26 -
2-192701407-G-C CAVIN2 c.520C>G p.Q174E Missense 2/2 -
18-46163049-C-T CTIF c.245C>T p.P82L Missense 3/12 -
11-62397114-T-C GANAB c.1780A>G p.M594V Missense 15/24 -
6-33756532-G-A LEMD2 c.362C>T p.A121V Missense 1/9 -
4-9452222-C-A DEFB131A c.195C>A p.D65E Missense 2/2 -
1-16559044-C-A CPLANE2 c.488G>T p.G163V Missense 4/5 -
3-105260520-C-T ALCAM c.902C>T p.T301M Missense 8/16 -
1-151735576-T-C MRPL9 c.200A>G p.E67G Missense 2/7 -
1-110466555-G-C CSF1 c.1312G>C p.G438R Missense 6/9 -
6-3010298-A-G NQO2 c.47A>G p.K16R Missense 3/7 -
9-140127051-G-A SLC34A3 c.200G>A p.R67H Missense 4/13 -
19-46141845-T-C EML2 c.97A>G p.M33V Missense 3/19 -
11-33079580-A-G TCP11L1 c.533A>G p.K178R Missense 5/10 -
2-234750380-C-T HJURP c.1046G>A p.R349H Missense 8/9 -
7-102952123-G-C PMPCB c.1188G>C p.E396D Missense 10/13 -
7-43830880-A-G BLVRA c.167A>G p.Q56R Missense 4/8 -
5-78612017-G-A JMY c.2854G>A p.D952N Missense 10/11 -
11-60689534-C-T TMEM109 c.629C>T p.A210V Missense 4/4 -
8-145114844-C-T OPLAH c.92G>A p.R31Q Missense 2/28 -
2-241401673-G-A GPC1 c.391G>A p.G131R Missense 3/9 -
18-29126057-C-T DSG2 c.2708C>T p.T903I Missense 15/15 -
1-17690206-C-A PADI4 c.1948C>A p.R650S Missense 16/16 -
3-9986249-A-G CRELD1 c.1249A>G p.I417V Missense 11/11 -
5-169015479-G-A SPDL1 c.59G>A p.R20Q Missense 2/12 -
16-19471571-G-A TMC5 c.1063G>A p.A355T Missense 6/22 -
X-153589848-G-A FLNA c.3035C>T p.S1012L Missense 21/48 -
17-42992715-G-A GFAP c.140C>T p.P47L Missense 1/9 -
11-77412755-C-T RSF1 c.1519G>A p.A507T Missense 6/16 -
16-2263836-C-G PGP c.859G>C p.G287R Missense 2/2 -
1-243434337-C-T SDCCAG8 c.278C>T p.P93L Missense 3/18 -
19-42231159-G-A CEACAM5 c.2032G>A p.G678R Missense 9/10 -
19-42231159-G-C CEACAM5 c.2032G>C p.G678R Missense 9/10 -
4-37836294-G-A PGM2 c.304G>A p.V102M Missense 3/14 -
16-67866443-C-T CENPT c.116G>A p.R39Q Missense 5/16 -
10-18270341-A-G SLC39A12 c.1025A>G p.Q342R Missense 6/13 -
20-36869769-C-T KIAA1755 c.764G>A p.R255Q Missense 3/14 -
4-7666160-G-A SORCS2 c.1033G>A p.G345R Missense 7/27 -
7-100883449-C-T FIS1 c.335G>A p.R112Q Missense 4/5 -
13-25823441-C-T MTMR6 c.1795G>A p.A599T Missense 14/14 -
11-57464253-G-A ZDHHC5 c.1030G>A p.D344N Missense 10/12 -
20-60902389-G-A LAMA5 c.5012C>T p.T1671M Missense 38/80 -
20-60901986-G-A LAMA5 c.5149C>T p.H1717Y Missense 39/80 -
12-133277860-G-A PXMP2 c.424G>A p.A142T Missense 4/5 -
17-7320874-C-T NLGN2 c.2264C>T p.A755V Missense 7/7 -
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 -
1-151751274-C-G TDRKH c.770G>C p.G257A Missense 6/13 -
18-60232248-A-G ZCCHC2 c.1765A>G p.K589E Missense 11/14 -
2-198948717-A-G PLCL1 c.476A>G p.D159G Missense 2/6 -
22-32914312-C-T SYN3 c.1328G>A p.R443H Missense 13/14 -
4-1824020-C-T LETM1 c.1496G>A p.R499H Missense 10/14 -
17-4908241-G-A KIF1C c.1111G>A p.A371T Missense 13/23 -
14-21862289-G-A CHD8 c.5665C>T p.R1889C Missense 32/38 -
17-37343130-A-G CACNB1 c.467T>C p.V156A Missense 5/14 -
12-83359384-C-T TMTC2 c.1730C>T p.T577M Missense 6/12 -
6-42666136-G-A PRPH2 c.938C>T p.P313L Missense 3/3 -
10-26518671-G-A GAD2 c.805G>A p.A269T Missense 7/16 -
14-68353784-G-T RAD51B c.619G>T p.V207L Missense 7/11 -
2-179839888-G-A CCDC141 c.422C>T p.A141V Missense 4/24 -
6-170627797-A-G FAM120B c.1319A>G p.Y440C Missense 2/11 -
1-156035717-A-G RAB25 c.59A>G p.E20G Missense 2/5 -
2-131486765-C-G GPR148 c.41C>G p.A14G Missense 1/1 -
1-64095165-A-G PGM1 c.316A>G p.I106V Missense 2/11 -
12-52966249-T-A KRT74 c.674A>T p.D225V Missense 2/9 -
9-140772434-G-A CACNA1B c.49G>A p.G17S Missense 1/47 -
7-134135621-T-C AKR1B1 c.268A>G p.K90E Missense 3/10 -
12-176139-A-T IQSEC3 c.91A>T p.T31S Missense 1/14 -
3-133670066-G-A SLCO2A1 c.847C>T p.P283S Missense 6/14 -
9-38577101-G-A ANKRD18A c.2690C>T p.A897V Missense 14/16 -
6-107103510-G-T QRSL1 c.1063G>T p.V355L Missense 9/11 -
3-133748570-G-A SLCO2A1 c.77C>T p.S26L Missense 1/14 -
9-108230553-G-T FSD1L c.287G>T p.S96I Missense 4/14 -
22-50721492-C-T PLXNB2 c.2803G>A p.V935I Missense 17/37 -
1-155175089-C-T THBS3 c.286+902G>A p.R102Q UnclassifiedSNV 3/23 -
1-22150118-C-T HSPG2 c.12994G>A p.V4332I Missense 96/97 -
15-33446311-G-C FMN1 c.805C>G p.P269A Missense 4/21 -
16-1997004-C-T RPL3L c.784G>A p.V262M Missense 6/10 -
19-40978640-G-A SPTBN4 c.112G>A p.A38T Missense 2/36 -
12-52842643-C-T KRT6B c.1186G>A p.D396N Missense 6/9 -
2-65299298-C-A CEP68 c.1068C>A p.N356K Missense 3/7 -
14-57700585-T-G EXOC5 c.731A>C p.N244T Missense 9/18 -
16-24788645-T-G TNRC6A c.555T>G p.N185K Missense 5/25 -
22-18369986-T-C MICAL3 c.2017A>G p.K673E Missense 15/32 -
16-1995589-C-T RPL3L c.1078G>A p.V360M Missense 9/10 -
19-6458228-A-C SLC25A23 c.264T>G p.S88R Missense 2/10 -
19-6458228-A-T SLC25A23 c.264T>A p.S88R Missense 2/10 -
19-6458230-T-G SLC25A23 c.262A>C p.S88R Missense 2/10 -
3-49332025-C-G USP4 c.1698G>C p.E566D Missense 14/22 -
3-49332025-C-A USP4 c.1698G>T p.E566D Missense 14/22 -
19-35250660-G-A ZNF599 c.1046C>T p.T349M Missense 4/4 -
5-139231255-C-T NRG2 c.1706G>A p.R569H Missense 9/10 -
13-77529644-A-G ACOD1 c.455A>G p.N152S Missense 4/5 -
21-34038278-A-G SYNJ1 c.2237T>C p.I707T Missense 17/33 -
17-4925481-C-T KIF1C c.2105C>T p.T702I Missense 22/23 -
4-122590824-A-G ANXA5 c.836T>C p.I279T Missense 12/13 -
8-133187752-T-C KCNQ3 c.881A>G p.E294G Missense 5/15 -
16-10788294-G-A TEKT5 c.437C>T p.S146L Missense 1/7 -
2-85923169-A-C GNLY c.245A>C p.K82T Missense 3/5 -
12-57556220-G-C LRP1 c.2323G>C p.A775P Missense 14/89 -
1-100361925-G-C AGL c.3343G>C p.G1115R Missense 25/34 -
X-118771122-C-T SEPTIN6 c.824G>A p.R275Q Missense 7/11 -
4-71508539-G-A ENAM c.1396G>A p.V466I Missense 9/9 -
11-71943961-C-A INPPL1 c.1894C>A p.L632I Missense 16/28 -
1-982302-C-A AGRN c.3353C>A p.T1118K Missense 19/36 -
14-64494308-C-G SYNE2 c.6511C>G p.L2171V Missense 43/116 -
X-153587375-T-C FLNA c.4451A>G p.Q1484R Missense 26/48 -
15-62207911-A-G VPS13C c.8366T>C p.I2789T Missense 61/85 -
1-154544129-C-T CHRNB2 c.830C>T p.T277M Missense 5/6 -
4-114275049-G-A ANK2 c.5275G>A p.E1759K Missense 38/46 -
20-31757090-G-A BPIFA2 c.139G>A p.V47I Missense 2/9 -
14-105850798-C-T PACS2 c.1889C>T p.A630V Missense 17/25 -
17-66267650-T-A SLC16A6 c.651A>T p.E217D Missense 5/6 -
17-10222462-G-A MYH13 c.3383C>T p.A1128V Missense 27/41 -
13-111156250-G-A COL4A2 c.4195G>A p.V1399I Missense 44/48 -
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 -
14-64898328-A-G MTHFD1 c.1390A>G p.I464V Missense 14/28 -
22-46708152-G-A GTSE1 c.877G>A p.A293T Missense 5/12 -
3-119219573-A-G TIMMDC1 c.226A>G p.N76D Missense 2/7 -
20-32251396-A-G NECAB3 c.388-3195T>C - IntronicSNV - 5/11
2-55277226-C-T RTN4 c.211G>A p.A71T Missense 1/9 -
11-85396271-C-G CCDC89 c.903G>C p.E301D Missense 1/1 -
1-150485042-CC-AG ECM1 c.1298_1299delCCinsAG p.T433K Missense 8/10 -
19-44117961-C-T SRRM5 c.1688C>T p.P563L Missense 1/1 -
21-40574434-T-C BRWD1 c.4402A>G p.I1468V Missense 38/41 -
8-134296524-C-T NDRG1 c.31G>A p.A11T Missense 2/16 -
8-145138065-C-T GPAA1 c.113C>T p.A38V Missense 2/12 -
9-71843023-C-G TJP2 c.1446C>G p.D482E Missense 9/23 -
19-41073863-C-T SPTBN4 c.6631C>T p.P2211S Missense 31/36 -
1-17266518-G-A CROCC c.1738G>A p.A580T Missense 13/37 -
1-226033035-T-A EPHX1 c.1355T>A p.L452Q Missense 9/9 -
7-129938598-G-C CPA4 c.81G>C p.L27F Missense 2/11 -
9-138439806-C-T OBP2A c.367C>T p.R123C Missense 4/7 -
13-30110294-T-C SLC7A1 c.32A>G p.Q11R Missense 3/13 -
12-101777351-G-A UTP20 c.7960G>A p.V2654I Missense 60/62 -
19-6182796-C-T ACSBG2 c.941C>T p.P314L Missense 9/15 -
8-95861739-G-A INTS8 c.1310G>A p.G437E Missense 11/27 -
8-110283256-T-C NUDCD1 c.1277A>G p.N426S Missense 8/10 -
21-45751822-G-A CFAP410 c.449C>T p.T150I Missense 5/7 -
2-152536332-T-C NEB c.3158A>G p.K1053R Missense 32/182 -
19-11541831-C-T ODAD3 c.254G>A p.R85Q Missense 2/13 -
6-43252029-T-C TTBK1 c.3551T>C p.L1184S Missense 14/15 -
22-32110943-G-A PRR14L c.2882C>T p.T961I Missense 4/9 -
22-19263214-G-A CLTCL1 c.182C>T p.P61L Missense 2/33 -
11-124951719-G-A SLC37A2 c.802G>A p.G268S Missense 9/18 -
17-33491164-A-G UNC45B c.1130A>G p.K377R Missense 9/20 -
21-45564766-C-G C21orf33 c.742C>G p.L248V Missense 7/7 -
1-220161969-T-C EPRS c.2738A>G p.E913G Missense 19/32 -
18-18564483-G-C ROCK1 c.2318C>G p.T773S Missense 20/33 -
16-24202451-C-A PRKCB c.1763C>A p.P588H Missense 16/17 -
16-74729356-G-C MLKL c.300C>G p.D100E Missense 2/11 -
9-111678508-C-T IKBKAP c.934G>A p.E312K Missense 10/37 -
11-93803617-C-T HEPHL1 c.1141C>T p.R381C Missense 6/20 -
9-86495276-C-T KIF27 c.2579G>A p.R860Q Missense 11/18 -
9-130889953-C-G PTGES2 c.44G>C p.G15A Missense 1/7 -
19-2252626-C-T JSRP1 c.698G>A p.R233Q Missense 7/7 -
10-105762972-T-C SLK c.2036T>C p.I679T Missense 9/19 -
X-48682972-A-G HDAC6 c.3598A>G p.N1200D Missense 29/29 -
1-3679886-C-T CCDC27 c.1169C>T p.P390L Missense 7/12 -
22-41736090-G-A ZC3H7B c.1087G>A p.D363N Missense 10/23 -
10-135044009-G-A UTF1 c.217G>A p.G73R Missense 1/2 -
X-9866265-C-A SHROOM2 c.2826C>A p.D942E Missense 5/10 -
9-136217563-G-A RPL7A c.607G>A p.A203T Missense 6/8 -
2-158177847-C-T ERMN c.791G>A p.R264Q Missense 3/3 -
8-17820758-G-T PCM1 c.2612G>T p.G871V Missense 17/39 -
19-42744253-G-C GSK3A c.325C>G p.Q109E Missense 2/11 -
1-152084984-C-A TCHH c.709G>T p.V237L Missense 3/3 -
1-152084984-C-G TCHH c.709G>C p.V237L Missense 3/3 -
1-205892259-C-T SLC26A9 c.1724G>A p.R575Q Missense 16/21 -
18-72234625-C-T CNDP1 c.713C>T p.A238V Missense 6/12 -
7-100075358-G-A TSC22D4 c.304C>T p.P102S Missense 2/5 -
2-224463820-A-G SCG2 c.181T>C p.Y61H Missense 2/2 -
11-764414-A-G TALDO1 c.962A>G p.K321R Missense 7/8 -
5-10683642-C-T DAP c.194G>A p.R65Q Missense 3/4 -
17-649779-T-C GEMIN4 c.1504A>G p.I502V Missense 2/2 -
12-121622115-C-T P2RX7 c.1298C>T p.A433V Missense 13/13 -
14-64457747-C-G SYNE2 c.2560C>G p.Q854E Missense 21/116 -
11-1972143-G-A MRPL23 c.32G>A p.R11Q Missense 2/5 -
20-45717928-A-G EYA2 c.712A>G p.T238A Missense 8/16 -
22-44360335-G-A SAMM50 c.136G>A p.V46I Missense 3/15 -
2-153468112-A-G FMNL2 c.1055A>G p.Y352C Missense 11/26 -
16-21974134-C-A UQCRC2 c.442C>A p.R148S Missense 6/14 -
10-12595329-A-G CAMK1D c.198A>G p.I66M Missense 2/11 -
11-120833194-G-A GRIK4 c.2070G>A p.M690I Missense 18/21 -
6-30548210-A-G ABCF1 c.592A>G p.N198D Missense 8/25 -
19-59082368-C-T MZF1 c.389G>A p.R130Q Missense 2/6 -
4-366596-A-G ZNF141 c.370A>G p.K124E Missense 4/4 -
15-44849698-G-A EIF3J c.421G>A p.A141T Missense 6/8 -
16-21982936-G-A UQCRC2 c.761G>A p.R254H Missense 9/14 -
16-256119-C-T LUC7L c.394G>A p.E132K Missense 5/10 -
3-52394028-G-A DNAH1 c.4504G>A p.V1502M Missense 27/78 -
19-44515492-T-A ZNF230 c.1301T>A p.F434Y Missense 5/5 -
1-33292008-G-A S100PBP c.308G>A p.S103N Missense 3/7 -
22-32914231-C-T SYN3 c.1409G>A p.S470N Missense 13/14 -
10-129905239-G-A MKI67 c.4865C>T p.P1622L Missense 13/15 -
2-54135936-T-C PSME4 c.2614A>G p.I872V Missense 22/47 -
1-38411444-C-T INPP5B c.136G>A p.G46S Missense 3/24 -
6-39869235-G-T DAAM2 c.2969G>T p.R990L Missense 24/25 -
3-133467337-G-T TF c.125G>T p.R42L Missense 2/17 -
3-14862235-G-A FGD5 c.1657G>A p.V553M Missense 1/20 -
8-22863501-A-G RHOBTB2 c.325A>G p.I109V Missense 4/10 -
1-173823011-C-A DARS2 c.1642C>A p.L548M Missense 15/17 -
3-44285446-A-G TOPAZ1 c.1448A>G p.Q483R Missense 2/20 -
12-106633557-G-C CKAP4 c.1054C>G p.L352V Missense 2/2 -
16-2259955-G-A BRICD5 c.434C>T p.S145F Missense 4/6 -
19-44103288-C-T ZNF576 c.391C>T p.R131C Missense 3/3 -
1-160811488-T-C CD244 c.265A>G p.N89D Missense 2/9 -
7-98992084-C-T ARPC1B c.1091C>T p.S364L Missense 10/10 -
17-45699143-G-C NPEPPS c.2617G>C p.E873Q Missense 23/23 -
17-38416827-G-A WIPF2 c.104G>A p.R35Q Missense 3/8 -
9-27292474-T-C EQTN c.301A>G p.N101D Missense 4/8 -
6-84634296-C-G CYB5R4 c.799C>G p.P267A Missense 10/16 -
2-220313633-G-A SPEG c.1753G>A p.G585S Missense 4/41 -
7-86998764-A-G CROT c.620A>G p.H207R Missense 7/18 -
3-14220032-C-T XPC c.37G>A p.G13R Missense 1/16 -
3-14220032-C-G XPC c.37G>C p.G13R Missense 1/16 -
16-15814883-C-T MYH11 c.4604G>A p.R1535Q Missense 33/41 -
15-55652719-A-G CCPG1 c.1252T>C p.Y418H Missense 8/9 -
15-72338423-G-A MYO9A c.482C>T p.T161I Missense 2/42 -
17-74942512-C-T MGAT5B c.1903C>T p.H635Y Missense 16/18 -
21-43162110-C-T RIPK4 c.1243G>A p.V415M Missense 8/8 -
X-129546713-G-A RBMX2 c.860G>A p.R287H Missense 6/6 -
19-13015347-G-A SYCE2 c.265C>T p.H89Y Missense 3/6 -
19-51856469-G-A ETFB c.292C>T p.R98C Missense 3/6 -
19-56467052-C-T NLRP8 c.1628C>T p.A543V Missense 3/10 -
6-167752274-C-T TTLL2 c.187C>T p.P63S Missense 2/3 -
4-3519881-C-T LRPAP1 c.631G>A p.D211N Missense 5/8 -
5-82406931-T-C XRCC4 c.224T>C p.L75S Missense 3/8 -
5-64976539-A-T SGTB c.562T>A p.S188T Missense 7/11 -
1-235922443-T-G LYST c.6710A>C p.Q2237P Missense 23/53 -
16-3727629-C-T TRAP1 c.574G>A p.E192K Missense 6/18 -
10-99683022-T-C CRTAC1 c.557A>G p.K186R Missense 4/15 -
4-151141918-A-C DCLK2 c.1120A>C p.I374L Missense 6/16 -
20-24952155-T-C APMAP c.479A>G p.N160S Missense 5/9 -
2-29295284-A-T PCARE c.1844T>A p.V615D Missense 1/2 -
14-24606543-A-G PSME1 c.149A>G p.N50S Missense 4/11 -
15-32925302-G-A ARHGAP11A c.1228G>A p.V410I Missense 9/12 -
13-31232430-C-G USPL1 c.2216C>G p.S739C Missense 9/9 -
11-96117467-G-C CCDC82 c.445C>G p.Q149E Missense 4/10 -
14-72976936-G-A RGS6 c.1040G>A p.R347Q Missense 14/18 -
1-26504066-G-A CNKSR1 c.28G>A p.G10R Missense 1/21 -
1-26504066-G-C CNKSR1 c.28G>C p.G10R Missense 1/21 -
5-179268995-C-T MRNIP c.361G>A p.E121K Missense 5/7 -
3-5216072-A-G ARL8B c.484A>G p.I162V Missense 6/7 -
12-16510615-G-A MGST1 c.203G>A p.R68K Missense 3/4 -
7-82784588-C-T PCLO c.1369G>A p.G457R Missense 2/25 -
6-42072274-C-T C6orf132 c.3376G>A p.A1126T Missense 4/5 -
5-82937538-T-C HAPLN1 c.842A>G p.N281S Missense 5/5 -
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 -
11-65338363-C-A ZNRD2 c.178C>A p.L60I Missense 3/4 -
5-150029383-C-T SYNPO c.1546C>T p.P516S Missense 2/3 -
3-49700582-G-A BSN c.10991G>A p.R3664Q Missense 7/12 -
17-45682880-T-C NPEPPS c.2057T>C p.I686T Missense 17/23 -
4-83785581-A-C SEC31A c.1368T>G p.N456K Missense 11/27 -
22-19455430-G-C UFD1L c.388C>G p.P130A Missense 5/12 -
7-2692634-C-T TTYH3 c.1010C>T p.P337L Missense 9/14 -
19-58483860-G-A C19orf18 c.239C>T p.T80M Missense 3/6 -
22-22277485-G-C PPM1F c.1345C>G p.Q449E Missense 8/8 -
16-597250-G-A CAPN15 c.412G>A p.E138K Missense 4/14 -
12-52962050-G-A KRT74 c.1258C>T p.R420W Missense 7/9 -
22-44151656-A-G EFCAB6 c.497T>C p.V166A Missense 6/32 -
13-19753484-C-G TUBA3C c.223G>C p.V75L Missense 2/5 -
1-186305747-C-A TPR c.4586G>T p.R1529L Missense 33/51 -
20-56189985-C-G ZBP1 c.460G>C p.D154H Missense 4/8 -
5-17275996-C-A BASP1 c.671C>A p.T224N Missense 2/2 -
5-33448792-C-A TARS1 c.284C>A p.A95E Missense 3/19 -
3-139257727-T-C RBP1 c.334A>G p.M112V Missense 2/4 -
10-105178380-G-A PDCD11 c.2095G>A p.E699K Missense 15/36 -
11-64854812-G-A ZFPL1 c.653G>A p.R218Q Missense 7/8 -
15-57820861-A-G CGNL1 c.3049A>G p.M1017V Missense 13/19 -
19-57985579-C-A ZNF772 c.410G>T p.G137V Missense 4/4 -
19-57987153-C-A ZNF772 c.74G>T p.G25V Missense 3/4 -
16-31089465-C-T ZNF646 c.1820C>T p.T607I Missense 2/3 -
17-4925675-G-A KIF1C c.2299G>A p.G767R Missense 22/23 -
3-47446172-G-A PTPN23 c.190G>A p.G64S Missense 3/25 -
1-45980626-T-C PRDX1 c.302A>G p.N101S Missense 4/6 -
7-99630948-A-G ZKSCAN1 c.820A>G p.N274D Missense 6/6 -
15-67528778-A-T AAGAB c.329T>A p.M110K Missense 3/10 -
19-53303656-T-A ZNF28 c.1442A>T p.H481L Missense 4/4 -
3-113179485-T-C SPICE1 c.1414A>G p.R472G Missense 12/18 -
19-2076974-T-G MOB3A c.460A>C p.K154Q Missense 4/5 -
14-93398717-C-T CHGA c.811C>T p.R271W Missense 7/8 -
7-131865473-G-A PLXNA4 c.3511C>T p.P1171S Missense 19/32 -
X-49104709-C-T CCDC22 c.1150C>T p.R384C Missense 10/17 -
1-985378-G-A AGRN c.4840G>A p.E1614K Missense 27/36 -
14-20924167-G-T APEX1 c.153G>T p.Q51H Missense 3/5 -
1-160654857-A-G CD48 c.205T>C p.W69R Missense 2/4 -
5-140772573-C-T PCDHGB3 c.2415+20197C>T - IntronicSNV - 1/3
1-110257647-T-C GSTM5 c.439T>C p.W147R Missense 6/8 -
3-101293097-A-G PCNP c.38A>G p.K13R Missense 1/5 -
4-70799939-C-G CSN1S1 c.61C>G p.L21V Missense 3/16 -
4-90171195-C-T GPRIN3 c.67G>A p.D23N Missense 2/2 -
6-84025039-C-T ME1 c.694G>A p.V232I Missense 6/14 -
11-3063460-A-G CARS1 c.301T>C p.W101R Missense 3/23 -
8-21955034-C-T FHIP2B c.305C>T p.P102L Missense 4/17 -
7-45125700-C-T NACAD c.79G>A p.D27N Missense 2/8 -
8-121354634-C-G COL14A1 c.4837C>G p.Q1613E Missense 44/48 -
17-29226348-T-A TEFM c.922A>T p.I308L Missense 4/4 -
19-10887847-G-A DNM2 c.643G>A p.D215N Missense 5/21 -
13-41814531-C-T MTRF1 c.736G>A p.G246S Missense 6/10 -
19-18278023-C-T PIK3R2 c.1643C>T p.A548V Missense 13/16 -
X-16846277-A-G TXLNG c.559A>G p.I187V Missense 4/10 -
5-41909884-C-A RIMOC1 c.244C>A p.L82I Missense 3/6 -
1-17420146-C-T PADI2 c.445G>A p.A149T Missense 5/16 -
15-101816797-G-C SELENOS c.160C>G p.R54G Missense 2/6 -
19-6432112-G-A SLC25A41 c.311C>T p.A104V Missense 2/7 -
2-27164818-G-A DPYSL5 c.1090G>A p.V364I Missense 10/13 -
2-191110893-C-T HIBCH c.796G>A p.D266N Missense 10/14 -
2-152551061-T-C NEB c.1757A>G p.K586R Missense 19/182 -
3-48643235-C-A UQCRC1 c.265G>T p.A89S Missense 3/13 -
16-20554458-C-G ACSM2B c.1408G>C p.G470R Missense 11/14 -
16-20554458-C-T ACSM2B c.1408G>A p.G470R Missense 11/14 -
12-40422173-G-C SLC2A13 c.855C>G p.N285K Missense 3/10 -
2-220312856-G-T SPEG c.976G>T p.A326S Missense 4/41 -
6-2893754-A-G SERPINB9 c.458T>C p.I153T Missense 5/7 -
4-187630597-C-A FAT1 c.385G>T p.V129L Missense 2/27 -
2-10932003-C-T PDIA6 c.502G>A p.D168N Missense 6/13 -
2-238427259-G-A MLPH c.523G>A p.A175T Missense 5/16 -
4-187172752-G-A KLKB1 c.980G>A p.R327H Missense 9/15 -
1-153431406-C-A S100A7 c.84G>T p.E28D Missense 2/3 -
1-236706862-G-T LGALS8 c.552G>T p.R184S Missense 8/10 -
1-89522647-T-A GBP1 c.1045A>T p.T349S Missense 7/11 -
12-88440676-G-T C12orf29 c.712G>T p.V238L Missense 6/7 -
13-41382711-A-C SLC25A15 c.760A>C p.I254L Missense 6/7 -
14-69704553-G-C EXD2 c.1554G>C p.Q518H Missense 9/10 -
17-33288882-T-A ZNF830 c.297T>A p.H99Q Missense 1/1 -
17-42992542-G-A GFAP c.313C>T p.R105W Missense 1/9 -
19-53344919-T-A ZNF468 c.628A>T p.M210L Missense 4/4 -
4-87809020-C-A C4orf36 c.247G>T p.V83L Missense 4/5 -
6-151674326-A-T AKAP12 c.4800A>T p.E1600D Missense 4/5 -
2-183622547-T-A DNAJC10 c.1938T>A p.H646Q Missense 19/24 -
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 -
8-145001654-CT-TG PLEC c.3679_3680delAGinsCA p.R1227Q Missense 27/32 -
8-54742078-T-C ATP6V1H c.232A>G p.I78V Missense 4/14 -
1-158654938-A-G SPTA1 c.224T>C p.I75T Missense 2/52 -
13-111213794-A-G RAB20 c.73T>C p.Y25H Missense 1/2 -
12-110232256-C-T TRPV4 c.1369G>A p.E457K Missense 8/16 -
1-33777674-A-C A3GALT2 c.314T>G p.L105R Missense 4/5 -
17-79671332-T-C MRPL12 c.133T>C p.C45R Missense 2/5 -
8-145108191-T-C OPLAH c.2792A>G p.Q931R Missense 20/28 -
19-22846652-A-C ZNF492 c.181A>C p.N61H Missense 4/4 -
7-44104839-C-T PGAM2 c.290G>A p.G97D Missense 1/3 -
1-226567661-G-A PARP1 c.1505C>T p.A502V Missense 10/23 -
6-39859484-A-C DAAM2 c.2327A>C p.K776T Missense 19/25 -
16-11374994-C-A PRM1 c.102G>T p.R34S Missense 1/2 -
22-29881797-A-C NEFH c.1169A>C p.N390T Missense 3/4 -
15-34077949-G-A RYR3 c.9355G>A p.E3119K Missense 66/104 -
12-109283278-C-T DAO c.343C>T p.R115W Missense 4/11 -
19-11537603-G-A CCDC151 c.614C>T p.T205I Missense 5/13 -
16-11374994-C-G PRM1 c.102G>C p.R34S Missense 1/2 -
15-33916136-G-A RYR3 c.2486G>A p.R829H Missense 20/104 -
16-72135487-C-T DHX38 c.1475C>T p.T492M Missense 11/27 -
2-64199317-G-A VPS54 c.440C>T p.T147I Missense 4/23 -
16-2122886-G-A TSC2 c.2257G>A p.A753T Missense 21/42 -
6-31322410-A-T HLA-B c.1045T>A p.C349S Missense 6/8 -
6-108197775-G-A SEC63 c.2027C>T p.T676I Missense 19/21 -
6-129959618-G-T ARHGAP18 c.473C>A p.T158N Missense 3/15 -
12-122018756-C-T KDM2B c.61G>A p.A21T Missense 1/23 -
21-45172469-A-G PDXK c.581A>G p.Q194R Missense 8/11 -
3-156697028-C-T LEKR1 c.791C>T p.A264V Missense 7/13 -
21-47532061-GC-AA COL6A2 c.284_285delGCinsAA p.R95Q Missense 3/28 -
5-140730384-G-T PCDHGB1 c.557G>T p.S186I Missense 1/4 -
1-165636636-A-G ALDH9A1 c.1259T>C p.V420A Missense 9/11 -
11-619789-T-A CDHR5 c.1071A>T p.R357S Missense 10/15 -
22-43555306-T-C TSPO c.62T>C p.V21A Missense 2/4 -
4-69337325-C-G TMPRSS11E c.474C>G p.H158Q Missense 5/10 -
4-90171221-G-A GPRIN3 c.41C>T p.S14F Missense 2/2 -
4-88584095-TCG-AAC DMP1 c.1165_1167delTCGinsAAC p.S389N Missense 6/6 -
4-104104432-C-G CENPE c.759G>C p.K253N Missense 10/49 -
4-104104432-C-A CENPE c.759G>T p.K253N Missense 10/49 -
15-75983040-CG-GA CSPG4 c.365_366delCGinsTC p.T122I Missense 3/10 -
15-74573102-A-G CCDC33 c.983A>G p.K328R Missense 9/19 -
15-42005670-A-C MGA c.3406A>C p.K1136Q Missense 9/24 -
19-41726574-A-G AXL c.119A>G p.N40S Missense 2/20 -
13-31903725-G-A B3GLCT c.1417G>A p.V473M Missense 15/15 -
1-1562550-C-T MIB2 c.1640C>T p.A490V Missense 11/20 -
19-55493757-G-A NLRP2 c.691G>A p.A231T Missense 6/13 -
2-159954268-T-G TANC1 c.181T>G p.S61A Missense 4/27 -
21-47410900-A-G COL6A1 c.1064A>G p.Q355R Missense 15/35 -
5-160042903-G-C ATP10B c.2595C>G p.N865K Missense 17/26 -
17-10541644-C-G MYH3 c.3445G>C p.E1149Q Missense 27/41 -
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 -
6-11103979-G-A ERVFRD-1 c.1565C>T p.T522M Missense 2/2 -
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 -
12-9751127-T-C KLRB1 c.382A>G p.S128G Missense 4/6 -
22-43280404-G-T PACSIN2 c.773C>A p.S258Y Missense 6/11 -
2-166868749-G-A SCN1A c.3749C>T p.T1250M Missense 22/29 -
1-226074594-C-T LEFTY1 c.934G>A p.G312R Missense 4/4 -
12-101702045-G-A UTP20 c.2078G>A p.R693K Missense 18/62 -
17-39661394-G-A KRT13 c.409C>T p.R137C Missense 1/8 -
1-89322983-T-A GTF2B c.723A>T p.E241D Missense 6/7 -
6-31868938-C-T ZBTB12 c.145G>A p.V49I Missense 2/2 -
11-77921746-G-A USP35 c.2845G>A p.D949N Missense 10/11 -
1-36552585-C-T TEKT2 c.686C>T p.A229V Missense 6/10 -
6-29912857-C-G HLA-A c.1034C>G p.T345S Missense 6/8 -
19-15272218-G-A NOTCH3 c.6221C>T p.P2074L Missense 33/33 -
6-38084405-C-T ZFAND3 c.419C>T p.T140M Missense 5/6 -
17-71196139-C-T COG1 c.1049C>T p.T350M Missense 5/14 -
6-46657421-G-T TDRD6 c.1556G>T p.R519I Missense 1/4 -
17-663472-C-A GLOD4 c.838G>T p.A280S Missense 9/9 -
12-107360943-G-A TMEM263 c.49G>A p.D17N Missense 3/4 -
7-12269416-A-T TMEM106B c.553A>T p.T185S Missense 5/8 -
17-5461672-T-A NLRP1 c.2344A>T p.T782S Missense 4/17 -
18-47317912-G-A ACAA2 c.811C>T p.H271Y Missense 7/10 -
1-109878903-C-G SORT1 c.1330G>C p.E444Q Missense 11/20 -
17-56283881-G-A MKS1 c.1435C>T p.R479C Missense 16/18 -
19-3651960-G-A PIP5K1C c.991C>T p.R331C Missense 8/18 -
3-49373027-T-C USP4 c.104A>G p.Y35C Missense 2/22 -
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 -
5-82816284-T-C VCAN c.2159T>C p.V720A Missense 7/15 -
6-31324064-T-A HLA-B c.499A>T p.T167S Missense 3/8 -
1-243319611-T-C CEP170 c.3823A>G p.M1275V Missense 14/20 -
2-179518003-A-G TTN c.38753T>C p.L12918S Missense 198/363 -
13-80911504-T-C SPRY2 c.337A>G p.T113A Missense 2/2 -
19-39384148-T-A SIRT2 c.132A>T p.L44F Missense 4/16 -
11-64527211-A-C PYGM c.160T>G p.F54V Missense 1/20 -
12-60168732-G-T SLC16A7 c.656G>T p.S219I Missense 5/6 -
14-64519392-A-C SYNE2 c.8761A>C p.K2921Q Missense 48/116 -
14-103574815-G-A EXOC3L4 c.1937G>A p.R646Q Missense 10/11 -
6-43226924-G-A TTBK1 c.1165G>A p.V389I Missense 11/15 -
3-51672170-A-G RAD54L2 c.1693A>G p.T565A Missense 12/23 -
9-130887585-C-G PTGES2 c.415G>C p.E139Q Missense 2/7 -
11-4944666-G-A OR51G1 c.904C>T p.R302C Missense 1/1 -
12-6709469-C-T CHD4 c.1156G>A p.D386N Missense 9/40 -
1-27219196-C-T GPATCH3 c.1198G>A p.E400K Missense 5/7 -
9-117354865-A-C ATP6V1G1 c.116A>C p.E39A Missense 2/3 -
19-630130-C-T POLRMT c.232G>A p.V78M Missense 3/21 -
15-78454050-T-G IDH3A c.417T>G p.D139E Missense 5/11 -
3-49662566-C-T BSN c.383C>T p.T128M Missense 2/12 -
1-183206601-G-A LAMC2 c.2716G>A p.A906T Missense 18/23 -
4-47809012-G-A CORIN c.116C>T p.A39V Missense 2/22 -
10-5141522-A-G AKR1C3 c.451A>G p.M151V Missense 5/9 -
12-32137492-G-T RESF1 c.3603G>T p.E1201D Missense 4/6 -
12-113440906-G-A OAS2 c.1178G>A p.R393Q Missense 6/10 -
X-135430498-C-G ADGRG4 c.4633C>G p.P1545A Missense 6/26 -
6-151726967-A-G RMND1 c.1205T>C p.M402T Missense 11/12 -
1-236201523-G-A NID1 c.1166C>T p.T389M Missense 5/20 -
15-79089098-C-T ADAMTS7 c.653G>A p.R218H Missense 4/24 -
2-223505628-G-A FARSB c.292C>T p.R98W Missense 4/17 -
7-37053009-C-A ELMO1 c.1332G>T p.M444I Missense 16/22 -
15-90118867-C-T TICRR c.50C>T p.A17V Missense 1/22 -
5-145439659-G-A SH3RF2 c.1786G>A p.A596T Missense 9/10 -
6-152776622-C-T SYNE1 c.2831G>A p.R944Q Missense 24/146 -
12-112481521-C-T NAA25 c.2158G>A p.V720I Missense 18/24 -
3-187088995-C-T RTP4 c.575C>T p.A192V Missense 2/2 -
19-40331117-G-A FBL c.220C>T p.R74W Missense 3/9 -
12-111291296-A-G CCDC63 c.97A>G p.K33E Missense 3/12 -
11-62298502-C-T AHNAK c.3387G>A p.M1129I Missense 5/5 -
22-29879516-C-T NEFH c.1036C>T p.R346C Missense 2/4 -
9-115940942-C-T FKBP15 c.2054G>A p.G685D Missense 20/28 -
5-157106855-G-A C5orf52 c.328G>A p.A110T Missense 3/3 -
4-88578220-G-A DMP1 c.91G>A p.E31K Missense 3/6 -
6-151744739-T-G RMND1 c.858A>C p.E286D Missense 7/12 -
13-26273432-G-A ATP8A2 c.2333G>A p.R778Q Missense 25/37 -
5-176016559-C-T CDHR2 c.3148C>T p.R1050W Missense 24/32 -
1-234586237-T-C TARBP1 c.1798A>G p.T600A Missense 10/30 -
8-13424817-A-G C8orf48 c.317A>G p.K106R Missense 1/1 -
3-134090193-G-A AMOTL2 c.83C>T p.T28M Missense 2/10 -
7-45144211-G-A TBRG4 c.833C>T p.A278V Missense 4/11 -
19-9090314-C-T MUC16 c.1501G>A p.G501R Missense 1/84 -
20-2637087-A-G NOP56 c.1051A>G p.I351V Missense 9/12 -
12-117749339-A-C NOS1 c.784T>G p.F262V Missense 3/29 -
11-57571209-A-G CTNND1 c.1537A>G p.N513D Missense 8/21 -
11-5290899-C-T HBE1 c.100G>A p.V34I Missense 2/3 -
16-31277188-C-T ITGAM c.295C>T p.P99S Missense 4/30 -
19-4852061-C-T PLIN3 c.601G>A p.D201N Missense 5/8 -
2-211306138-T-G LANCL1 c.437A>C p.H146P Missense 5/10 -
9-140389598-C-A PNPLA7 c.2014G>T p.V672L Missense 19/35 -
X-49103246-C-T CCDC22 c.769C>T p.R257C Missense 7/17 -
17-18141783-A-G LLGL1 c.2066A>G p.N689S Missense 16/23 -
22-41742139-G-A ZC3H7B c.1592G>A p.G531D Missense 14/23 -
12-26834858-G-A ITPR2 c.1358C>T p.A453V Missense 13/57 -
10-135051653-A-G VENTX c.235A>G p.M79V Missense 1/3 -
1-165648710-G-A ALDH9A1 c.899C>T p.A300V Missense 6/11 -
19-43990795-G-A PHLDB3 c.1394C>T p.A465V Missense 12/16 -
17-76115435-G-A TMC6 c.1754C>T p.P585L Missense 14/20 -
3-15137528-C-G RBSN c.100G>C p.E34Q Missense 4/14 -
17-18541968-A-G TBC1D28 c.245T>C p.L82P Missense 7/10 -
16-31286964-T-A ITGAM c.953T>A p.F318Y Missense 9/30 -
13-23904298-T-G SACS c.13717A>C p.N4573H Missense 10/10 -
13-25264761-C-T ATP12A c.701C>T p.T234M Missense 7/23 -
16-216367-G-T HBM c.193G>T p.A65S Missense 2/3 -
3-49462410-T-C NICN1 c.572A>G p.H191R Missense 5/6 -
1-205631176-A-C SLC45A3 c.1037T>G p.V346G Missense 4/5 -
10-114177616-G-A ACSL5 c.1231G>A p.G411R Missense 14/21 -
10-114177616-G-C ACSL5 c.1231G>C p.G411R Missense 14/21 -
10-120931928-C-A PRDX3 c.517G>T p.G173C Missense 5/7 -
1-209933608-A-G TRAF3IP3 c.224A>G p.E75G Missense 3/17 -
5-39126145-C-T FYB1 c.2000G>A p.R667Q Missense 12/19 -
3-186006619-T-A DGKG c.424A>T p.T142S Missense 6/25 -
8-28209314-C-T ZNF395 c.931G>A p.D311N Missense 7/10 -
10-72434602-C-T ADAMTS14 c.373C>T p.R125W Missense 2/22 -
4-178274835-A-T NEIL3 c.1413A>T p.Q471H Missense 8/10 -
15-90177033-G-A KIF7 c.2476C>T p.R826W Missense 12/19 -
16-15808876-C-A MYH11 c.5676G>T p.E1892D Missense 40/41 -
3-179119066-C-T GNB4 c.958G>A p.V320I Missense 10/10 -
22-19918615-T-A TXNRD2 c.110A>T p.Q37L Missense 2/18 -
10-81925866-T-C ANXA11 c.832A>G p.I278V Missense 8/16 -
16-57493629-G-T COQ9 c.864G>T p.K288N Missense 7/9 -
20-44004020-T-C TP53TG5 c.427A>G p.T143A Missense 4/5 -
10-104176471-C-T PSD c.325G>A p.A109T Missense 2/17 -
14-21549893-G-T ARHGEF40 c.2866G>T p.V956L Missense 14/24 -
3-137796424-G-A DZIP1L c.1339C>T p.R447C Missense 11/16 -
7-44092484-G-C DBNL c.271G>C p.D91H Missense 4/13 -
17-18161945-G-T FLII c.60C>A p.F20L Missense 1/30 -
17-40729267-C-A PSMC3IP c.189G>T p.K63N Missense 3/8 -
1-36886117-C-G OSCP1 c.919G>C p.G307R Missense 8/10 -
17-55189893-A-C AKAP1 c.2017A>C p.K673Q Missense 5/11 -
4-79507418-C-T ANXA3 c.317C>T p.A106V Missense 6/13 -
9-129854107-C-T ANGPTL2 c.1124G>A p.R375H Missense 4/5 -
4-85525421-G-C CDS1 c.143G>C p.G48A Missense 2/13 -
10-129868686-A-G PTPRE c.1265A>G p.D422G Missense 14/21 -
17-78055757-C-T CCDC40 c.1889C>T p.A630V Missense 12/20 -
4-96761363-T-A PDHA2 c.62T>A p.V21E Missense 1/1 -
19-10742166-C-T SLC44A2 c.457C>T p.L153F Missense 7/22 -
11-6898789-G-A OR10A4 c.911G>A p.R304Q Missense 1/1 -
11-8159884-C-G RIC3 c.362G>C p.G121A Missense 3/6 -
6-31600106-C-A PRRC2A c.3656C>A p.S1219Y Missense 16/31 -
2-172928514-G-A METAP1D c.274G>A p.D92N Missense 3/10 -
12-57037209-T-C ATP5F1B c.770A>G p.N257S Missense 5/10 -
4-159894311-A-G C4orf45 c.217T>C p.Y73H Missense 2/5 -
1-247150739-C-T ZNF695 c.1078G>A p.A360T Missense 4/4 -
2-242606080-G-A ATG4B c.559G>A p.V187I Missense 8/13 -
5-7900056-A-G MTRR c.1982A>G p.H661R Missense 15/15 -
15-78572717-A-G DNAJA4 c.1109A>G p.N370S Missense 7/7 -
3-45132872-C-T CDCP1 c.1786G>A p.G596S Missense 7/9 -
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 -
19-4013276-A-T PIAS4 c.383A>T p.K128M Missense 2/11 -
11-102643636-C-A MMP10 c.1168G>T p.A390S Missense 8/10 -
19-49424482-G-T NUCB1 c.1074G>T p.E358D Missense 11/13 -
19-40330874-G-A FBL c.377C>T p.S126L Missense 4/9 -
1-231472537-C-G EXOC8 c.955G>C p.E319Q Missense 1/1 -
11-64087269-G-A PRDX5 c.235G>A p.A79T Missense 2/6 -
2-55276902-T-C RTN4 c.535A>G p.R179G Missense 1/9 -
2-71148395-C-A VAX2 c.415C>A p.L139M Missense 2/3 -
15-78461324-C-T IDH3A c.1078C>T p.R360C Missense 11/11 -
2-153405580-C-G FMNL2 c.328C>G p.L110V Missense 4/26 -
12-113285527-C-A RPH3A c.110C>A p.P37H Missense 5/22 -
1-200534651-T-G KIF14 c.3808A>C p.S1270R Missense 24/30 -
2-232326517-T-G NCL c.347A>C p.K116T Missense 3/14 -
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 -
11-118922814-T-C HYOU1 c.1193A>G p.K398R Missense 11/26 -
7-150269542-G-C GIMAP4 c.384G>C p.E128D Missense 3/3 -
2-84670490-C-T SUCLG1 c.236G>A p.G79D Missense 3/9 -
17-79804328-G-C P4HB c.1033C>G p.R345G Missense 7/11 -
19-46289009-G-A DMWD c.1745C>T p.A582V Missense 3/5 -
4-108948850-C-A HADH c.643C>A p.P215T Missense 6/8 -
20-3180724-G-A DDRGK1 c.433C>T p.R145W Missense 4/9 -
20-32247750-C-T NECAB3 c.584G>A p.R195H Missense 7/12 -
21-45746102-T-C PFKL c.2150T>C p.V717A Missense 21/22 -
12-32908705-G-T YARS2 c.104C>A p.A35D Missense 1/5 -
9-139733736-C-T RABL6 c.1556C>T p.P519L Missense 12/15 -
2-54858253-G-T SPTBN1 c.3069G>T p.E1023D Missense 16/36 -
12-93196332-C-T EEA1 c.2518G>A p.E840K Missense 19/29 -
12-106632873-A-C CKAP4 c.1738T>G p.L580V Missense 2/2 -
2-54880891-T-G SPTBN1 c.5723T>G p.V1908G Missense 27/36 -
5-125880710-T-C ALDH7A1 c.1567A>G p.T523A Missense 18/18 -
3-195300800-A-C APOD c.166T>G p.F56V Missense 3/5 -
19-49120041-G-A RPL18 c.239C>T p.A80V Missense 4/7 -
12-60173357-C-G SLC16A7 c.1334C>G p.T445S Missense 6/6 -
2-74699715-T-C MRPL53 c.73A>G p.K25E Missense 1/3 -
19-45375164-C-T NECTIN2 c.533C>T p.T178M Missense 3/9 -
19-33119742-C-T ANKRD27 c.1223G>A p.G408D Missense 14/29 -
3-49691434-C-T BSN c.4445C>T p.P1482L Missense 5/12 -
9-127693601-G-T GOLGA1 c.220C>A p.L74I Missense 4/23 -
19-39220016-G-A ACTN4 c.2680G>A p.G894S Missense 21/21 -
13-19751245-T-C TUBA3C c.878A>G p.N293S Missense 4/5 -
1-22165963-T-C HSPG2 c.9790A>G p.I3264V Missense 73/97 -
1-151955753-G-C S100A10 c.180C>G p.D60E Missense 3/3 -
5-132100013-G-A SEPTIN8 c.250C>T p.R84W Missense 3/10 -
14-24798433-T-A ADCY4 c.1358A>T p.E453V Missense 10/25 -
2-207026131-G-A EEF1B2 c.265G>A p.G89R Missense 3/6 -
17-7950265-A-G ALOX15B c.1328A>G p.Q443R Missense 10/14 -
8-80942341-C-G MRPS28 c.143G>C p.R48P Missense 1/3 -
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 -
4-48027327-G-A NIPAL1 c.289G>A p.A97T Missense 2/6 -
20-25264772-G-C PYGB c.1653G>C p.E551D Missense 14/20 -
20-25264772-G-T PYGB c.1653G>T p.E551D Missense 14/20 -
3-52426643-G-A DNAH1 c.10216G>A p.V3406I Missense 64/78 -
6-33405980-C-T SYNGAP1 c.1298C>T p.A433V Missense 8/19 -
3-81754732-A-G GBE1 c.176T>C p.I59T Missense 2/16 -
4-668009-G-A ATP5ME c.28C>T p.L10F Missense 1/4 -
6-86195033-G-A NT5E c.832G>A p.V278I Missense 4/9 -
15-63092900-G-C TLN2 c.6409G>C p.E2137Q Missense 47/56 -
8-82357149-A-G PMP2 c.149T>C p.I50T Missense 2/4 -
7-148716209-A-G PDIA4 c.350T>C p.V117A Missense 3/10 -
15-72286923-C-T MYO9A c.1474G>A p.V492M Missense 10/42 -
3-113285388-T-G SIDT1 c.344T>G p.L115R Missense 2/25 -
21-35468965-G-A SLC5A3 c.1468G>A p.A490T Missense 2/2 -
15-84700108-C-T ADAMTSL3 c.4678C>T p.R1560C Missense 28/30 -
8-126021519-A-G SQLE c.1042A>G p.I348V Missense 6/11 -
1-183101582-A-G LAMC1 c.3614A>G p.N1205S Missense 21/28 -
7-12263971-G-A TMEM106B c.401G>A p.S134N Missense 4/8 -
21-42770896-G-A MX2 c.1222G>A p.G408R Missense 9/14 -
21-42770896-G-C MX2 c.1222G>C p.G408R Missense 9/14 -
8-144620810-G-C ZC3H3 c.727C>G p.L243V Missense 2/12 -
8-110287630-T-C NUDCD1 c.1124A>G p.Q375R Missense 7/10 -
8-48878875-C-T MCM4 c.961C>T p.R321C Missense 9/17 -
17-5271763-G-C RABEP1 c.1884G>C p.M628I Missense 12/18 -
9-105767074-C-T CYLC2 c.278C>T p.A93V Missense 4/8 -
19-34706531-A-G LSM14A c.746A>G p.N249S Missense 6/10 -
11-117711076-C-G FXYD6 c.217G>C p.G73R Missense 6/8 -
8-55055320-C-T MRPL15 c.527C>T p.T176I Missense 4/5 -
9-32633036-C-T TAF1L c.2542G>A p.D848N Missense 1/1 -
22-41650338-G-A RANGAP1 c.1234C>T p.R412W Missense 11/16 -
1-10239569-C-G UBE4B c.3796C>G p.P1266A Missense 27/28 -
7-121652919-G-T PTPRZ1 c.3819G>T p.L1273F Missense 12/30 -
8-27925173-T-C NUGGC c.569A>G p.D190G Missense 6/19 -
15-32744768-G-A GOLGA8O c.233C>T p.P78L Missense 4/19 -
5-68603851-A-C CCDC125 c.458T>G p.I153R Missense 5/12 -
8-2033500-C-T MYOM2 c.1622C>T p.P541L Missense 14/37 -
10-81111337-C-T PPIF c.410C>T p.P137L Missense 4/6 -
17-5085637-G-A ZNF594 c.1915C>T p.L639F Missense 2/2 -
11-107427543-C-T ALKBH8 c.316G>A p.V106M Missense 3/12 -
6-656555-G-C HUS1B c.390C>G p.H130Q Missense 1/1 -
6-161807855-C-A PRKN c.1138G>T p.V380L Missense 10/12 -
1-6698390-C-T DNAJC11 c.1288G>A p.D430N Missense 12/16 -
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 -
9-140441302-C-A PNPLA7 c.253G>T p.G85C Missense 4/35 -
10-87966145-C-T GRID1 c.496G>A p.V166I Missense 3/16 -
1-62739226-C-T KANK4 c.1550G>A p.R517K Missense 3/10 -
17-10404653-C-T MYH1 c.3512G>A p.R1171Q Missense 27/40 -
1-100681587-A-G DBT c.724T>C p.S242P Missense 6/11 -
X-9866265-C-G SHROOM2 c.2826C>G p.D942E Missense 5/10 -
9-119460579-G-C TRIM32 c.558G>C p.Q186H Missense 2/2 -
5-56778405-C-T ACTBL2 c.130G>A p.V44I Missense 1/1 -
1-145606361-T-C POLR3C c.592A>G p.K198E Missense 5/16 -
19-52877677-G-A ZNF880 c.265G>A p.A89T Missense 3/4 -
3-53834369-G-A CACNA1D c.5017G>A p.E1673K Missense 41/48 -
17-8402755-T-C MYH10 c.3784A>G p.T1262A Missense 30/43 -
16-30199805-G-A CORO1A c.1189G>A p.V397I Missense 10/11 -
7-154767477-C-T PAXIP1 c.1003G>A p.V335I Missense 6/21 -
11-75316901-T-C MAP6 c.1268A>G p.D423G Missense 3/4 -
22-31981106-AG-CA SFI1 c.1399_1400delAGinsCA p.R467Q Missense 14/33 -
17-26902006-G-C ALDOC c.343C>G p.P115A Missense 4/9 -
6-76024220-C-T FILIP1 c.1328G>A p.S443N Missense 5/6 -
16-3486996-C-T ZNF597 c.703G>A p.V235I Missense 4/4 -
10-68688019-A-G LRRTM3 c.1345A>G p.M449V Missense 2/3 -
8-11702705-C-T CTSB c.949G>A p.D317N Missense 10/10 -
12-57602950-C-G LRP1 c.12230C>G p.T4077R Missense 79/89 -
8-17794873-C-G PCM1 c.327C>G p.F109L Missense 4/39 -
16-2086427-G-A SLC9A3R2 c.517G>A p.G173S Missense 3/7 -
1-205180578-C-T DSTYK c.86G>A p.R29Q Missense 1/13 -
2-75915015-C-G GCFC2 c.1628G>C p.S543T Missense 11/17 -
17-26961675-G-A KIAA0100 c.2930C>T p.A977V Missense 16/39 -
1-186077722-G-C HMCN1 c.10982G>C p.R3661P Missense 71/107 -
9-129854069-G-A ANGPTL2 c.1162C>T p.P388S Missense 4/5 -
12-40422173-G-T SLC2A13 c.855C>A p.N285K Missense 3/10 -
1-151491674-C-T CGN c.679C>T p.R227W Missense 2/21 -
16-57550293-C-T CCDC102A c.1331G>A p.R444Q Missense 7/9 -
2-157427763-C-G GPD2 c.1726C>G p.L576V Missense 13/17 -
6-7395322-A-G RIOK1 c.313A>G p.M105V Missense 3/17 -
1-11710060-T-C FBXO2 c.463A>G p.S155G Missense 3/6 -
6-88125455-T-C CFAP206 c.335T>C p.V112A Missense 5/13 -
22-24717517-C-T SPECC1L c.569C>T p.T190M Missense 5/17 -
6-136681926-T-G MAP7 c.1712A>C p.E571A Missense 13/18 -
19-11492737-G-A EPOR c.296C>T p.A99V Missense 3/8 -
7-99755343-C-T TRAPPC14 c.550G>A p.V184I Missense 3/11 -
7-82579610-C-T PCLO c.10294G>A p.D3432N Missense 6/25 -
6-36976637-G-T FGD2 c.96G>T p.Q32H Missense 2/16 -
13-31231872-T-C USPL1 c.1658T>C p.I553T Missense 9/9 -
4-10446707-C-T ZNF518B c.1246G>A p.V416I Missense 3/3 -
12-53663433-G-C ESPL1 c.707G>C p.R236T Missense 3/31 -
16-67221389-T-C EXOC3L1 c.779A>G p.H260R Missense 5/14 -
2-109088343-A-G GCC2 c.2558A>G p.E853G Missense 6/23 -
7-100806341-C-A VGF c.1784G>T p.R595L Missense 2/2 -
19-1978927-G-T CSNK1G2 c.517G>T p.V173L Missense 6/12 -
2-96076657-G-A FAHD2A c.568G>A p.D190N Missense 5/8 -
3-47545919-G-A ELP6 c.224C>T p.A75V Missense 4/7 -
19-48593639-T-G PLA2G4C c.745A>C p.I249L Missense 8/17 -
19-54872657-G-C LAIR1 c.230C>G p.A77G Missense 3/10 -
6-29429826-G-A OR2H1 c.280G>A p.G94R Missense 4/4 -
11-108586617-A-G DDX10 c.1334A>G p.E445G Missense 11/18 -
16-3712016-G-T TRAP1 c.1912C>A p.L638M Missense 16/18 -
17-10212619-G-C MYH13 c.5101C>G p.R1701G Missense 35/41 -
17-80041173-G-A FASN c.5470C>T p.R1824W Missense 32/43 -
1-3389995-T-G ARHGEF16 c.1214T>G p.I405S Missense 8/15 -
14-93649990-C-T MOAP1 c.598G>A p.V200I Missense 3/3 -
3-12880956-T-C RPL32 c.170A>G p.N57S Missense 3/4 -
6-24436901-T-C GPLD1 c.2261A>G p.E754G Missense 22/25 -
1-158639328-C-T SPTA1 c.1703G>A p.R568H Missense 14/52 -
16-4935505-T-C PPL c.3151A>G p.K1051E Missense 22/22 -
3-49679930-C-T BSN c.863C>T p.P288L Missense 3/12 -
3-51746781-C-T GRM2 c.743C>T p.A248V Missense 3/6 -
8-75757392-C-T PI15 c.422C>T p.P141L Missense 4/6 -
7-98246958-C-T NPTX2 c.185C>T p.A62V Missense 1/5 -
15-38228620-G-T TMCO5A c.96G>T p.Q32H Missense 3/12 -
21-47545899-C-T COL6A2 c.2170C>T p.R724C Missense 26/28 -
1-100349757-A-G AGL c.2390A>G p.N797S Missense 18/34 -
1-183072631-CA-TG LAMC1 c.587_588delCAinsTG p.T196M Missense 2/28 -
2-69748052-G-C AAK1 c.1124C>G p.T375S Missense 11/22 -
2-69748053-T-A AAK1 c.1123A>T p.T375S Missense 11/22 -
6-32159931-G-C GPSM3 c.139C>G p.H47D Missense 2/4 -
8-24157589-A-G ADAM28 c.149A>G p.Q50R Missense 2/23 -
18-63511111-G-A CDH7 c.1045G>A p.D349N Missense 7/12 -
15-65684226-G-A IGDCC4 c.2216C>T p.P739L Missense 12/20 -
6-40399877-C-T LRFN2 c.976G>A p.D326N Missense 2/3 -
14-94756525-T-C SERPINA10 c.406A>G p.T136A Missense 2/5 -
1-161008424-G-A TSTD1 c.50C>T p.A17V Missense 2/4 -
11-58346953-G-A ZFP91 c.199G>A p.A67T Missense 1/11 -
1-36557307-C-T ADPRS c.397C>T p.R133C Missense 3/6 -
7-40039097-C-T CDK13 c.2180C>T p.T727I Missense 4/14 -
14-74539060-T-C ALDH6A1 c.194A>G p.N65S Missense 4/12 -
11-66333800-G-C CTSF c.683C>G p.T228R Missense 5/13 -
6-129959721-C-T ARHGAP18 c.370G>A p.G124R Missense 3/15 -
1-156628415-C-T BCAN c.2518C>T p.L840F Missense 13/14 -
1-186344028-T-G TPR c.133A>C p.K45Q Missense 1/51 -
17-64637473-G-A PRKCA c.289G>A p.D97N Missense 4/17 -
1-185878503-C-G HMCN1 c.656C>G p.S219C Missense 5/107 -
1-180061976-G-C CEP350 c.6736G>C p.D2246H Missense 34/38 -
1-200534649-A-C KIF14 c.3810T>G p.S1270R Missense 24/30 -
1-200534649-A-T KIF14 c.3810T>A p.S1270R Missense 24/30 -
1-196927182-T-C CFHR2 c.592T>C p.S198P Missense 4/5 -
1-200811204-G-T CAMSAP2 c.1010G>T p.R337L Missense 7/17 -
1-209796950-A-C LAMB3 c.2258T>G p.V753G Missense 16/23 -
1-200870222-G-A INAVA c.455G>A p.R152H Missense 5/10 -
1-180897634-GT-AA KIAA1614 c.1130_1131delGTinsAA p.R377Q Missense 4/9 -
1-201176206-G-A IGFN1 c.2185G>A p.E729K Missense 12/24 -
1-167985033-C-T DCAF6 c.1393C>T p.P465S Missense 11/22 -
1-207195837-AG-TT C1orf116 c.1271_1272delCTinsAA p.P424Q Missense 4/4 -
1-193038591-A-G RO60 c.407A>G p.K136R Missense 2/9 -
1-201355556-C-G LAD1 c.933G>C p.R311S Missense 3/10 -
1-201355556-C-A LAD1 c.933G>T p.R311S Missense 3/10 -
1-183947632-C-T COLGALT2 c.286G>A p.D96N Missense 2/12 -
1-180886995-GTG-ATC KIAA1614 c.1006_1008delGTGinsATC p.V336I Missense 3/9 -
1-185880877-GTG-ATC HMCN1 c.865_867delGTGinsATC p.V289I Missense 6/107 -
1-182555013-CG-TT RNASEL c.928_929delCGinsAA p.R310K Missense 2/7 -
1-179363143-G-T AXDND1 c.969G>T p.L323F Missense 10/26 -
1-179363143-G-C AXDND1 c.969G>C p.L323F Missense 10/26 -
1-175375763-C-T TNR c.88G>A p.E30K Missense 3/23 -
1-180905233-G-A KIAA1614 c.2188G>A p.G730R Missense 5/9 -
1-180905233-G-C KIAA1614 c.2188G>C p.G730R Missense 5/9 -
1-180904415-C-G KIAA1614 c.1370C>G p.A457G Missense 5/9 -
1-183201807-C-T LAMC2 c.2035C>T p.L679F Missense 14/23 -
1-200817626-A-G CAMSAP2 c.1729A>G p.I577V Missense 11/17 -
1-204218352-C-T PLEKHA6 c.1634G>A p.R545K Missense 11/23 -
1-171621483-G-C MYOC c.269C>G p.A90G Missense 1/3 -
1-180904674-C-G KIAA1614 c.1629C>G p.I543M Missense 5/9 -
1-182551337-A-T RNASEL c.1623T>A p.D541E Missense 4/7 -
1-173743488-G-A KLHL20 c.1340G>A p.S447N Missense 9/12 -
1-203652469-G-A ATP2B4 c.136G>A p.V46I Missense 2/21 -
17-71199239-C-G COG1 c.2174C>G p.A725G Missense 8/14 -
17-56386189-G-C TSPOAP1 c.4444C>G p.L1482V Missense 22/32 -
17-48601083-G-A MYCBPAP c.1702G>A p.V525I Missense 12/19 -
17-56770086-G-C RAD51C c.82G>C p.V28L Missense 1/9 -
17-56770086-G-T RAD51C c.82G>T p.V28L Missense 1/9 -
17-66267510-T-A SLC16A6 c.791A>T p.D264V Missense 5/6 -
17-66397585-A-G ARSG c.1297A>G p.I433V Missense 11/12 -
17-56385284-C-G TSPOAP1 c.4750G>C p.A1584P Missense 23/32 -
17-78059992-A-G CCDC40 c.2426A>G p.E809G Missense 14/20 -
17-66267480-G-T SLC16A6 c.821C>A p.P274H Missense 5/6 -
17-78321904-A-G RNF213 c.9769A>G p.I3257V Missense 29/68 -
17-71201708-C-T COG1 c.2399C>T p.P800L Missense 10/14 -
17-54969585-T-C TRIM25 c.1369A>G p.I457V Missense 9/9 -
17-73627650-C-T RECQL5 c.1328G>A p.R443Q Missense 9/20 -
17-71192838-C-G COG1 c.508C>G p.L170V Missense 2/14 -
17-73239575-G-A GGA3 c.377C>T p.P126L Missense 5/17 -
17-56288067-T-A MKS1 c.977A>T p.E326V Missense 11/18 -
17-73235155-A-G GGA3 c.1790T>C p.L597P Missense 15/17 -
17-76045518-T-G TNRC6C c.375T>G p.S125R Missense 4/22 -
17-76045518-T-A TNRC6C c.375T>A p.S125R Missense 4/22 -
17-76045516-A-C TNRC6C c.373A>C p.S125R Missense 4/22 -
17-78081434-C-G GAA c.771C>G p.I257M Missense 4/20 -
17-61574686-G-A ACE c.3880G>A p.G1294R Missense 25/25 -
17-61574686-G-C ACE c.3880G>C p.G1294R Missense 25/25 -
18-61306890-T-A SERPINB4 c.590A>T p.E197V Missense 6/8 -
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 -
18-3079208-TCC-GCT MYOM1 c.4615_4617delGGAinsAGC p.G1539S Missense 34/38 -
18-21115497-A-T NPC1 c.3413T>A p.M1138K Missense 22/25 -
18-29115252-AGA-CAT DSG2 c.1300_1302delAGAinsCAT p.R434H Missense 10/15 -
18-44559904-C-G ELOA2 c.1732G>C p.V578L Missense 1/1 -
18-3149194-G-A MYOM1 c.1849C>T p.P617S Missense 13/38 -
18-724509-CT-TG YES1 c.1546_1547delAGinsCA p.R516Q Missense 12/12 -
18-7080014-CT-TG LAMA1 c.304_305delAGinsCA p.R102Q Missense 3/63 -
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 -
18-13049020-A-G CEP192 c.2230A>G p.K744E Missense 16/45 -
18-61078799-G-C VPS4B c.40C>G p.L14V Missense 2/11 -
18-18564484-T-A ROCK1 c.2317A>T p.T773S Missense 20/33 -
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-G SERPINB3 c.805T>C p.W269R Missense 8/8 -
18-31312023-C-T ASXL3 c.971C>T p.A324V Missense 9/12 -
17-79866770-C-T PCYT2 c.322G>A p.D108N Missense 3/13 -
18-23731896-G-A PSMA8 c.304G>A p.D102N Missense 3/7 -
18-33736594-TCA-AAC ELP2 c.1441_1443delTCAinsAAC p.S481N Missense 13/22 -
18-3135692-T-A MYOM1 c.2062A>T p.T688S Missense 15/38 -
18-57013200-T-G LMAN1 c.906A>C p.K302N Missense 8/13 -
18-57013200-T-A LMAN1 c.906A>T p.K302N Missense 8/13 -
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 -
18-348115-T-C COLEC12 c.230A>G p.Q77R Missense 4/10 -
18-9126850-A-G NDUFV2 c.601A>G p.I201V Missense 7/8 -
18-745972-C-G YES1 c.550G>C p.V184L Missense 5/12 -
18-745972-C-A YES1 c.550G>T p.V184L Missense 5/12 -
18-348079-T-C COLEC12 c.266A>G p.D89G Missense 4/10 -
2-25315964-G-C EFR3B c.177G>C p.E59D Missense 3/23 -
2-25315964-G-T EFR3B c.177G>T p.E59D Missense 3/23 -
1-243433443-C-G SDCCAG8 c.104C>G p.A35G Missense 2/18 -
1-232596678-A-G SIPA1L2 c.3050T>C p.V1017A Missense 10/23 -
1-235582810-G-A TBCE c.394G>A p.V132I Missense 5/17 -
2-26637228-T-C DRC1 c.172T>C p.Y58H Missense 2/17 -
2-25314241-G-A EFR3B c.55G>A p.V19I Missense 2/23 -
2-27456238-G-A CAD c.3050G>A p.G1017E Missense 20/44 -
2-27462337-C-A CAD c.5392C>A p.Q1798K Missense 33/44 -
2-26663333-A-G DRC1 c.976A>G p.R326G Missense 8/17 -
1-231472816-G-T EXOC8 c.676C>A p.R226S Missense 1/1 -
2-31414959-A-G CAPN14 c.1120T>C p.F374L Missense 11/22 -
2-31414957-A-T CAPN14 c.1122T>A p.F374L Missense 11/22 -
2-31414957-A-C CAPN14 c.1122T>G p.F374L Missense 11/22 -
2-29295858-G-C PCARE c.1270C>G p.P424A Missense 1/2 -
1-245027527-T-C HNRNPU c.83A>G p.K28R Missense 1/14 -
1-247151487-C-G ZNF695 c.330G>C p.M110I Missense 4/4 -
1-247151487-C-A ZNF695 c.330G>T p.M110I Missense 4/4 -
1-248028200-A-G TRIM58 c.710A>G p.Q237R Missense 3/6 -
1-226074594-C-G LEFTY1 c.934G>C p.G312R Missense 4/4 -
1-248113061-C-A OR2L8 c.902C>A p.T301K Missense 1/1 -
1-229694149-A-G ABCB10 c.251T>C p.L84P Missense 1/13 -
1-248756167-C-A OR2T10 c.903G>T p.L301F Missense 2/2 -
1-248756167-C-G OR2T10 c.903G>C p.L301F Missense 2/2 -
1-248813510-A-G OR2T27 c.676T>C p.Y226H Missense 2/2 -
1-245027226-CGA-GTT HNRNPU c.382_384delTCGinsAAC p.S128N Missense 1/14 -
2-9731611-T-C YWHAQ c.328A>G p.T110A Missense 3/6 -
1-230561389-C-A PGBD5 c.286G>T p.A96S Missense 1/7 -
1-235600707-C-A TBCE c.1034C>A p.T345N Missense 12/17 -
2-37454771-G-A CEBPZ c.1565C>T p.T522I Missense 2/16 -
1-236702369-G-A LGALS8 c.325G>A p.V109M Missense 4/10 -
1-225611724-CCC-GCT LBR c.52_54delGGGinsAGC p.G18S Missense 2/14 -
19-1398917-C-T GAMT c.568G>A p.E190K Missense 5/6 -
2-99977615-C-T EIF5B c.251C>T p.T84I Missense 4/24 -
19-6222277-G-A MLLT1 c.965C>T p.S322F Missense 6/12 -
19-731180-C-T PALM c.355C>T p.R119W Missense 5/9 -
18-76754962-G-T SALL3 c.2971G>T p.A991S Missense 2/3 -
19-3736251-G-A TJP3 c.1216G>A p.V406M Missense 11/21 -
2-63182660-G-T EHBP1 c.2325G>T p.L775F Missense 14/23 -
2-63182660-G-C EHBP1 c.2325G>C p.L775F Missense 14/23 -
2-95539308-C-A TEKT4 c.542C>A p.T181N Missense 2/6 -
2-98428925-G-T TMEM131 c.1822C>A p.L608M Missense 17/41 -
2-40655818-C-T SLC8A1 c.1603G>A p.D535N Missense 2/11 -
2-84668450-T-A SUCLG1 c.452A>T p.D151V Missense 4/9 -
2-98422079-C-G TMEM131 c.2143G>C p.V715L Missense 20/41 -
2-99438487-G-A CRACDL c.2249C>T p.A750V Missense 7/10 -
2-69746325-G-A AAK1 c.1258C>T p.P420S Missense 12/22 -
2-64148370-TC-AT VPS54 c.1838_1839delGAinsAT p.R613H Missense 13/23 -
2-75891875-T-G GCFC2 c.2263A>C p.K755Q Missense 17/17 -
19-6141593-T-G ACSBG2 c.39T>G p.D13E Missense 2/15 -
2-105708997-G-A MRPS9 c.790G>A p.E264K Missense 8/11 -
2-54886366-A-G SPTBN1 c.6319A>G p.T2107A Missense 31/36 -
2-65299298-C-G CEP68 c.1068C>G p.N356K Missense 3/7 -
2-105654608-G-A MRPS9 c.58G>A p.G20S Missense 1/11 -
2-109066128-GGG-AGC GCC2 c.46_48delGGGinsAGC p.G16S Missense 2/23 -
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 -
2-113496554-C-T CKAP2L c.2084G>A p.R695Q Missense 9/9 -
2-40656477-CT-AG SLC8A1 c.943_944delAGinsCT p.R315L Missense 2/11 -
2-54858253-G-C SPTBN1 c.3069G>C p.E1023D Missense 16/36 -
2-113513726-T-C CKAP2L c.1222A>G p.N408D Missense 4/9 -
2-54877014-A-G SPTBN1 c.5465A>G p.Q1822R Missense 26/36 -
2-64141408-A-T VPS54 c.2242T>A p.L748I Missense 17/23 -
2-54856888-A-G SPTBN1 c.2617A>G p.N873D Missense 14/36 -
2-46605083-C-T EPAS1 c.1300C>T p.P434S Missense 10/16 -
2-85553977-G-A TGOLN2 c.878C>T p.A293V Missense 2/4 -
18-74728966-A-C MBP c.398T>G p.V133G Missense 4/9 -
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 -
19-4714185-GA-CC DPP9 c.220_221delTCinsGG p.S74G Missense 4/22 -
19-5274305-C-T PTPRS c.142G>A p.G48S Missense 3/38 -
19-7676901-C-A CAMSAP3 c.1522C>A p.P508T Missense 11/17 -
19-1979078-CG-TC CSNK1G2 c.668_669delCGinsTC p.T223I Missense 6/12 -
19-1828508-C-T REXO1 c.280G>A p.A94T Missense 2/16 -
19-5215417-C-T PTPRS c.4201G>A p.D1401N Missense 28/38 -
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 -
19-1978927-G-C CSNK1G2 c.517G>C p.V173L Missense 6/12 -
19-7677658-C-T CAMSAP3 c.2279C>T p.A760V Missense 11/17 -
19-727021-G-A PALM c.71G>A p.R24Q Missense 3/9 -
19-4719865-TCT-ATG DPP9 c.52_54delAGAinsCAT p.R18H Missense 3/22 -
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 -
19-4714344-G-A DPP9 c.62C>T p.S21L Missense 4/22 -
19-2213613-A-T DOT1L c.1633A>T p.R545W Missense 17/28 -
19-2435039-C-T LMNB2 c.815G>A p.R272Q Missense 5/12 -
2-170072841-CCC-GCT LRP2 c.5746_5748delGGGinsAGC p.G1916S Missense 35/79 -
2-170493741-C-T PPIG c.1973C>T p.S658F Missense 14/14 -
2-170493834-T-C PPIG c.2066T>C p.F689S Missense 14/14 -
2-160075821-GTG-TTT TANC1 c.3451_3453delGTGinsTTT p.V1151F Missense 21/27 -
2-171260887-A-G MYO3B c.2408A>G p.Q803R Missense 20/35 -
2-135757523-C-T MAP3K19 c.298G>A p.D100N Missense 7/13 -
2-116066872-C-A DPP10 c.118C>A p.L40M Missense 2/26 -
2-118706967-T-C CCDC93 c.1073A>G p.K358R Missense 14/24 -
2-157406203-GTA-ATG GPD2 c.745_747delGTAinsATG p.V249M Missense 7/17 -
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 -
2-175006585-T-C OLA1 c.517A>G p.R173G Missense 5/11 -
2-179536943-A-G TTN c.34982T>C p.V11661A Missense 155/363 -
2-133541293-C-T NCKAP5 c.3091G>A p.V1031I Missense 14/20 -
2-136537939-A-C UBXN4 c.1372A>C p.S458R Missense 12/13 -
2-179188943-G-A OSBPL6 c.142G>A p.E48K Missense 4/25 -
2-152528976-A-C NEB c.4206T>G p.N1402K Missense 37/182 -
2-152528976-A-T NEB c.4206T>A p.N1402K Missense 37/182 -
2-178482780-C-T TTC30A c.650G>A p.R217H Missense 1/1 -
2-173335732-C-G ITGA6 c.674C>G p.T225S Missense 5/26 -
2-173335731-A-T ITGA6 c.673A>T p.T225S Missense 5/26 -
2-159517871-C-T PKP4 c.2120C>T p.A707V Missense 13/22 -
2-163230011-T-C KCNH7 c.3293A>G p.K1098R Missense 15/16 -
2-166179753-A-C SCN2A c.1759A>C p.I587L Missense 12/27 -
2-170487359-G-A PPIG c.623G>A p.S208N Missense 10/14 -
2-159459611-C-T PKP4 c.275C>T p.S92L Missense 4/22 -
19-13409696-C-A CACNA1A c.2751G>T p.E917D Missense 19/47 -
19-19336017-G-T NCAN c.1010G>T p.R337L Missense 6/15 -
19-10883157-C-T DNM2 c.238C>T p.H80Y Missense 3/21 -
19-10385669-G-T ICAM1 c.296G>T p.G99V Missense 2/7 -
19-14034204-G-T CC2D1A c.1700G>T p.G567V Missense 15/29 -
19-17622750-G-T PGLS c.269G>T p.S90I Missense 1/5 -
19-17534555-CT-TG MVB12A c.587_588delCTinsTG p.T196M Missense 6/9 -
19-8400627-GC-TT KANK3 c.83_84delGCinsAA p.R28Q Missense 3/11 -
19-12876964-G-T HOOK2 c.1464C>A p.H488Q Missense 15/23 -
19-19747795-G-C GMIP c.1168C>G p.P390A Missense 12/21 -
19-14512276-A-G ADGRE5 c.976A>G p.I326V Missense 10/20 -
19-9090314-C-G MUC16 c.1501G>C p.G501R Missense 1/84 -
19-13058702-GT-AA RAD23A c.113_114delGTinsAA p.R38Q Missense 2/9 -
19-14271040-C-T ADGRL1 c.1684G>A p.A562T Missense 8/23 -
19-34890208-C-G GPI c.1366C>G p.P456A Missense 15/18 -
19-35084467-G-C SCGB2B2 c.284C>G p.A95G Missense 3/3 -
19-8316052-GT-AA CERS4 c.92_93delGTinsAA p.R31Q Missense 3/12 -
19-14029347-CGG-AGC CC2D1A c.904_906delCGGinsAGC p.R302S Missense 8/29 -
19-14584366-T-C PTGER1 c.767A>G p.H256R Missense 2/3 -
19-14507229-C-G ADGRE5 c.422C>G p.T141S Missense 5/20 -
19-14507228-A-T ADGRE5 c.421A>T p.T141S Missense 5/20 -
19-15586705-G-A PGLYRP2 c.776C>T p.T259M Missense 2/5 -
19-9091426-CT-TG MUC16 c.388_389delAGinsCA p.R130Q Missense 1/84 -
19-16472751-C-T EPS15L1 c.2425G>A p.E809K Missense 23/24 -
19-14262184-G-A ADGRL1 c.3911C>T p.P1304L Missense 23/23 -
19-17212787-G-T MYO9B c.260G>T p.R87L Missense 2/40 -
19-8973559-T-C MUC16 c.42757A>G p.T14253A Missense 77/84 -
19-8400551-C-G KANK3 c.160G>C p.E54Q Missense 3/11 -
2-220313273-G-A SPEG c.1393G>A p.E465K Missense 4/41 -
2-228882611-C-T SPHKAP c.2959G>A p.G987R Missense 7/12 -
2-228882611-C-G SPHKAP c.2959G>C p.G987R Missense 7/12 -
2-224463129-T-C SCG2 c.872A>G p.Q291R Missense 2/2 -
2-202939704-T-C KIAA2012 c.175T>C p.F59L Missense 2/24 -
2-202939706-T-A KIAA2012 c.177T>A p.F59L Missense 2/24 -
2-202939706-T-G KIAA2012 c.177T>G p.F59L Missense 2/24 -
2-211085464-A-G ACADL c.140T>C p.I47T Missense 2/11 -
2-209047732-G-T C2orf80 c.163C>A p.L55M Missense 4/9 -
2-209101820-C-A IDH1 c.1228G>T p.A410S Missense 10/10 -
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 -
2-207026131-G-C EEF1B2 c.265G>C p.G89R Missense 3/6 -
2-202446912-T-C C2CD6 c.545A>G p.N182S Missense 5/16 -
2-228881941-G-T SPHKAP c.3629C>A p.A1210D Missense 7/12 -
2-224462354-C-G SCG2 c.1647G>C p.E549D Missense 2/2 -
2-224462354-C-A SCG2 c.1647G>T p.E549D Missense 2/2 -
2-197954676-G-A ANKRD44 c.1181C>T p.S394L Missense 11/28 -
2-228197290-C-T MFF c.337C>T p.P113S Missense 4/9 -
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 -
2-219528803-GCG-CTT RNF25 c.1255_1257delCGCinsAAG p.R419K Missense 10/10 -
2-207027265-T-G EEF1B2 c.450T>G p.D150E Missense 5/6 -
2-207027265-T-A EEF1B2 c.450T>A p.D150E Missense 5/6 -
2-232323069-A-C NCL c.1197T>G p.N399K Missense 8/14 -
2-232323069-A-T NCL c.1197T>A p.N399K Missense 8/14 -
2-220404335-C-T CHPF c.2098G>A p.E700K Missense 4/4 -
19-39384156-G-A SIRT2 c.124C>T p.R42W Missense 4/16 -
19-42910322-C-T LIPE c.2356G>A p.A786T Missense 7/10 -
19-44031269-C-A ETHE1 c.61G>T p.A21S Missense 1/7 -
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 -
19-43763072-G-T PSG9 c.925C>A p.Q309K Missense 4/6 -
19-44116655-G-A SRRM5 c.382G>A p.G128R Missense 1/1 -
19-44116655-G-C SRRM5 c.382G>C p.G128R Missense 1/1 -
19-44660897-G-A ZNF234 c.728G>A p.R243H Missense 6/6 -
19-44351946-C-T ZNF283 c.1193C>T p.T398I Missense 7/7 -
19-45368536-G-A NECTIN2 c.97G>A p.D33N Missense 2/9 -
19-44933919-T-A ZNF229 c.1037A>T p.D346V Missense 6/6 -
19-43766088-A-C PSG9 c.633T>G p.I211M Missense 3/6 -
19-45406310-G-A TOMM40 c.970G>A p.V324M Missense 9/9 -
19-43766044-C-A PSG9 c.677G>T p.S226I Missense 3/6 -
19-40513215-TC-AA ZNF546 c.206_207delTCinsAA p.L69Q Missense 5/7 -
19-44116310-T-A SRRM5 c.37T>A p.S13T Missense 1/1 -
19-50037608-G-C RCN3 c.401G>C p.G134A Missense 3/7 -
19-38817963-G-A KCNK6 c.862G>A p.D288N Missense 3/3 -
19-39384148-T-G SIRT2 c.132A>C p.L44F Missense 4/16 -
19-40978559-A-G SPTBN4 c.31A>G p.M11V Missense 2/36 -
19-41074162-G-C SPTBN4 c.6930G>C p.M2310I Missense 31/36 -
19-41074162-G-T SPTBN4 c.6930G>T p.M2310I Missense 31/36 -
19-44933678-CAG-AAA ZNF229 c.1276_1278delCTGinsTTT p.L426F Missense 6/6 -
19-46997522-C-T PNMA8B c.1201G>A p.V401I Missense 1/1 -
19-49535834-G-A CGB2 c.83G>A p.R28H Missense 2/3 -
19-39208597-C-G ACTN4 c.1174C>G p.Q392E Missense 11/21 -
19-38810861-T-G KCNK6 c.271T>G p.W91G Missense 1/3 -
19-50250707-C-T TSKS c.602G>A p.R201Q Missense 5/11 -
19-40368810-C-T FCGBP c.12538G>A p.A4180T Missense 28/36 -
19-40433524-C-T FCGBP c.745G>A p.G249S Missense 2/36 -
19-40408821-C-A FCGBP c.4018G>T p.V1340L Missense 8/36 -
19-55815435-G-A BRSK1 c.1304G>A p.G435E Missense 13/19 -
3-13417133-CCC-GCT NUP210 c.1300_1302delGGGinsAGC p.G434S Missense 11/40 -
3-37090010-A-C MLH1 c.1899A>C p.E633D Missense 17/19 -
3-37090010-A-T MLH1 c.1899A>T p.E633D Missense 17/19 -
2-241569949-G-A GPR35 c.580G>A p.V194M Missense 2/2 -
2-242674871-GTC-ATG D2HGDH c.232_234delGTCinsATG p.V78M Missense 2/10 -
3-12856687-C-G CAND2 c.1054C>G p.R352G Missense 8/15 -
2-242755731-G-C NEU4 c.50G>C p.R17T Missense 2/4 -
3-430947-A-G CHL1 c.2260A>G p.M754V Missense 20/28 -
2-242590724-CA-TG ATG4B c.158_159delCAinsTG p.T53M Missense 3/13 -
2-242066265-C-T PASK c.2065G>A p.A689T Missense 10/18 -
2-239009277-C-A ESPNL c.217C>A p.P73T Missense 1/9 -
3-12531327-A-C TSEN2 c.28A>C p.K10Q Missense 2/12 -
2-242186531-AAC-CAT HDLBP c.1756_1758delGTTinsATG p.V586M Missense 15/28 -
3-14862292-G-A FGD5 c.1714G>A p.D572N Missense 1/20 -
3-10091064-G-A FANCD2 c.1420G>A p.V474I Missense 17/44 -
2-242607984-A-G ATG4B c.841A>G p.T281A Missense 10/13 -
2-241697822-C-T KIF1A c.2537G>A p.G846E Missense 26/49 -
3-12881028-C-T RPL32 c.98G>A p.R33H Missense 3/4 -
3-37092052-C-G MLH1 c.2179C>G p.H727D Missense 19/19 -
3-12977752-G-A IQSEC1 c.764C>T p.P255L Missense 3/15 -
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 -
3-14199940-C-A XPC c.1443G>T p.K481N Missense 9/16 -
3-12942845-G-A IQSEC1 c.2983C>T p.P994P Missense 15/15 -
2-241401673-G-C GPC1 c.391G>C p.G131R Missense 3/9 -
3-15131950-CT-GC RBSN c.244_245delAGinsGC p.S82A Missense 5/14 -
2-233498452-GG-AT EFHD1 c.38_39delGGinsAT p.R13H Missense 1/4 -
2-238287764-A-T COL6A3 c.2012T>A p.I671N Missense 6/44 -
3-14200238-T-C XPC c.1145A>G p.K382R Missense 9/16 -
19-57327057-T-C PEG3 c.2753A>G p.K918R Missense 10/10 -
19-56539224-G-A NLRP5 c.1625G>A p.R542K Missense 7/15 -
19-53453472-C-A ZNF816 c.1556G>T p.S519I Missense 4/4 -
19-53741068-CG-AC ZNF677 c.911_912delCGinsGT p.S304C Missense 5/5 -
19-52909227-C-T ZNF528 c.83C>T p.A28V Missense 5/7 -
19-54761023-C-T LILRB5 c.34G>A p.G12R Missense 1/13 -
19-54761023-C-G LILRB5 c.34G>C p.G12R Missense 1/13 -
19-54759332-T-C LILRB5 c.769A>G p.K257E Missense 5/13 -
19-57868793-T-C ZNF304 c.1556T>C p.I519T Missense 3/3 -
19-54942015-C-G TTYH1 c.964C>G p.L322V Missense 9/14 -
19-54946735-C-T TTYH1 c.1139C>T p.A380V Missense 11/14 -
19-53611968-C-G ZNF415 c.1330G>C p.E444Q Missense 4/4 -
19-55592141-C-G EPS8L1 c.431C>G p.A144G Missense 7/20 -
19-57868319-G-A ZNF304 c.1082G>A p.R361K Missense 3/3 -
19-52941335-C-T ZNF534 c.622C>T p.H208Y Missense 5/5 -
19-53518406-C-G ERVV-1 c.1063C>G p.Q355E Missense 1/1 -
19-51961257-C-T SIGLEC8 c.385G>A p.G129R Missense 1/7 -
19-51961257-C-G SIGLEC8 c.385G>C p.G129R Missense 1/7 -
19-51869531-G-C ETFB c.50C>G p.A17G Missense 1/6 -
19-56030250-G-A SSC5D c.4607G>A p.G1536E Missense 14/14 -
19-53611991-C-G ZNF415 c.1307G>C p.G436A Missense 4/4 -
19-56249649-T-G NLRP9 c.92A>C p.K31T Missense 1/9 -
19-56206160-AGG-CAT EPN1 c.1333_1335delAGGinsCAT p.R445H Missense 10/11 -
19-56249655-A-G NLRP9 c.86T>C p.L29P Missense 1/9 -
19-51856525-A-G ETFB c.236T>C p.L79P Missense 3/6 -
19-58600200-C-G ZSCAN18 c.408G>C p.M136I Missense 3/7 -
19-58600200-C-T ZSCAN18 c.408G>A p.M136I Missense 3/7 -
19-58600200-C-A ZSCAN18 c.408G>T p.M136I Missense 3/7 -
19-58967017-G-A ZNF324B c.706G>A p.G236S Missense 4/4 -
20-2844679-G-A VPS16 c.1561G>A p.D521N Missense 16/24 -
20-5935329-A-T MCM8 c.329A>T p.Y110F Missense 4/19 -
20-5965549-C-T MCM8 c.1856C>T p.T619I Missense 15/19 -
19-53517608-C-A ERVV-1 c.265C>A p.L89I Missense 1/1 -
19-51172526-G-T SHANK1 c.2691C>A p.D897E Missense 23/24 -
19-56206191-C-G EPN1 c.1364C>G p.P455R Missense 10/11 -
20-16360219-C-G KIF16B c.2428G>C p.G810R Missense 19/26 -
3-37144467-CT-TG LRRFIP2 c.820_821delAGinsCA p.R274Q Missense 15/28 -
3-37147010-G-A LRRFIP2 c.719C>T p.T240I Missense 14/28 -
3-44323503-T-A TOPAZ1 c.3416T>A p.L1139Q Missense 9/20 -
3-44826385-C-T KIF15 c.410C>T p.P137L Missense 6/35 -
3-38651278-A-G SCN5A c.881T>C p.V294A Missense 7/28 -
3-42906527-C-T ACKR2 c.533C>T p.P178L Missense 3/3 -
3-51663411-G-A RAD54L2 c.403G>A p.E135K Missense 5/23 -
3-56020014-AA-CT ERC2 c.2257_2258delTTinsAG p.L753R Missense 12/18 -
3-51690066-C-T RAD54L2 c.3106C>T p.R1036W Missense 20/23 -
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 -