Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
3-101568755-C-A | NFKBIZ | c.283C>A | p.Q95K | Missense | 1/12 | - |
22-19951271-G-A | COMT | c.472G>A | p.V158M | Missense | 4/6 | - |
4-72618334-A-C | GC | c.1296T>G | p.D432E | Missense | 11/13 | - |
4-72618334-A-T | GC | c.1296T>A | p.D432E | Missense | 11/13 | - |
4-72618323-G-T | GC | c.1307C>A | p.T436K | Missense | 11/13 | - |
11-67257823-C-A | AIP | c.682C>A | p.Q228K | Missense | 5/6 | - |
20-5904028-C-T | CHGB | c.1238C>T | p.P413L | Missense | 4/5 | - |
19-19329924-C-T | NCAN | c.274C>T | p.P92S | Missense | 3/15 | - |
2-234183368-A-G | ATG16L1 | c.898A>G | p.T300A | Missense | 9/18 | - |
6-160113872-A-G | SOD2 | c.47T>C | p.V16A | Missense | 2/5 | - |
19-45316704-T-A | BCAM | c.611T>A | p.M204K | Missense | 6/15 | - |
14-94844947-C-T | SERPINA1 | c.1096G>A | p.E366K | Missense | 5/5 | - |
19-10395683-A-G | ICAM1 | c.1405A>G | p.K469E | Missense | 6/7 | - |
11-17418477-C-A | ABCC8 | c.4105G>T | p.A1369S | Missense | 33/39 | - |
12-110013879-G-A | MVK | c.155G>A | p.S52N | Missense | 3/11 | - |
5-96118852-G-C | ERAP1 | c.2188C>G | p.Q730E | Missense | 15/19 | - |
1-110279701-C-T | GSTM3 | c.670G>A | p.V224I | Missense | 9/9 | - |
18-31320229-A-G | ASXL3 | c.2861A>G | p.N954S | Missense | 11/12 | - |
6-46672943-A-G | PLA2G7 | c.1136T>C | p.V379A | Missense | 11/12 | - |
5-160042903-G-T | ATP10B | c.2595C>A | p.N865K | Missense | 17/26 | - |
17-78305871-G-A | RNF213 | c.3583G>A | p.V1195M | Missense | 21/68 | - |
14-20925154-T-A | APEX1 | c.444T>A | p.D148E | Missense | 5/5 | - |
14-20925154-T-G | APEX1 | c.444T>G | p.D148E | Missense | 5/5 | - |
12-121600253-T-C | P2RX7 | c.463T>C | p.Y155H | Missense | 5/13 | - |
13-25029218-C-T | PARP4 | c.2695G>A | p.A899T | Missense | 22/34 | - |
1-183085755-A-G | LAMC1 | c.1372A>G | p.I458V | Missense | 7/28 | - |
5-96124330-T-C | ERAP1 | c.1583A>G | p.K528R | Missense | 11/19 | - |
12-121592689-T-C | P2RX7 | c.227T>C | p.V76A | Missense | 2/13 | - |
12-121622196-A-G | P2RX7 | c.1379A>G | p.Q460R | Missense | 13/13 | - |
7-55229255-G-A | EGFR | c.1562G>A | p.R521K | Missense | 13/28 | - |
4-38774889-T-C | TLR10 | c.2323A>G | p.I775V | Missense | 4/4 | - |
10-5138747-A-G | AKR1C3 | c.230A>G | p.E77G | Missense | 2/9 | - |
1-183094547-T-C | LAMC1 | c.2663T>C | p.L888P | Missense | 15/28 | - |
14-24620821-A-T | RNF31 | c.1865A>T | p.Q622L | Missense | 10/21 | - |
12-108956433-C-T | ISCU | c.35C>T | p.A12V | Missense | 1/5 | - |
20-44642406-G-C | MMP9 | c.1721G>C | p.R574P | Missense | 10/13 | - |
7-95041016-G-C | PON2 | c.443C>G | p.A148G | Missense | 5/9 | - |
6-31595882-C-A | PRRC2A | c.1631C>A | p.T544K | Missense | 12/31 | - |
16-3721773-G-C | TRAP1 | c.1185C>G | p.D395E | Missense | 11/18 | - |
14-39556185-G-C | SEC23A | c.631C>G | p.L211V | Missense | 6/20 | - |
4-178274835-A-T | NEIL3 | c.1413A>T | p.Q471H | Missense | 8/10 | - |
4-178274835-A-C | NEIL3 | c.1413A>C | p.Q471H | Missense | 8/10 | - |
1-150484987-G-A | ECM1 | c.1243G>A | p.G415S | Missense | 8/10 | - |
12-11183286-G-C | TAS2R31 | c.649C>G | p.Q217E | Missense | 1/1 | - |
10-105810400-T-C | COL17A1 | c.2107A>G | p.M703V | Missense | 27/56 | - |
3-42906116-T-C | ACKR2 | c.122T>C | p.V41A | Missense | 3/3 | - |
14-20924167-G-C | APEX1 | c.153G>C | p.Q51H | Missense | 3/5 | - |
19-42231159-G-A | CEACAM5 | c.2032G>A | p.G678R | Missense | 9/10 | - |
1-155175089-C-T | THBS3 | c.305G>A | p.R102Q | Missense | 3/23 | - |
19-10742170-A-G | SLC44A2 | c.461A>G | p.Q154R | Missense | 7/22 | - |
3-52556890-A-G | STAB1 | c.6844A>G | p.I2282V | Missense | 62/69 | - |
13-26273432-G-A | ATP8A2 | c.2333G>A | p.R778Q | Missense | 25/37 | - |
10-30316072-C-G | KIAA1462 | c.3005G>C | p.S1002T | Missense | 3/4 | - |
1-226026406-A-G | EPHX1 | c.416A>G | p.H139R | Missense | 4/9 | - |
19-16025176-C-T | CYP4F11 | c.1336G>A | p.D446N | Missense | 11/12 | - |
21-37518706-G-A | CBR3 | c.730G>A | p.V244M | Missense | 3/3 | - |
22-41903841-C-G | ACO2 | c.220C>G | p.L74V | Missense | 3/18 | - |
19-2109157-T-C | AP3D1 | c.3400A>G | p.I1134V | Missense | 30/32 | - |
1-197070697-T-C | ASPM | c.7684A>G | p.S2562G | Missense | 18/28 | - |
2-21263900-G-A | APOB | c.293C>T | p.T98I | Missense | 4/29 | - |
19-10475652-C-A | TYK2 | c.1084G>T | p.V362F | Missense | 8/25 | - |
3-98307696-T-G | CPOX | c.814A>C | p.N272H | Missense | 4/7 | - |
18-21140432-T-C | NPC1 | c.644A>G | p.H215R | Missense | 6/25 | - |
3-108147728-T-C | MYH15 | c.3373A>G | p.T1125A | Missense | 28/42 | - |
7-12269417-C-G | TMEM106B | c.554C>G | p.T185S | Missense | 5/8 | - |
5-138857919-T-C | TMEM173 | c.695A>G | p.H232R | Missense | 6/8 | - |
2-86400824-G-A | IMMT | c.370C>T | p.P124S | Missense | 4/15 | - |
6-24503590-C-T | ALDH5A1 | c.538C>T | p.H180Y | Missense | 3/10 | - |
12-6711147-C-A | CHD4 | c.417G>T | p.E139D | Missense | 4/40 | - |
12-6711147-C-G | CHD4 | c.417G>C | p.E139D | Missense | 4/40 | - |
9-132580901-C-G | TOR1A | c.646G>C | p.D216H | Missense | 4/5 | - |
1-158597507-G-C | SPTA1 | c.5572C>G | p.L1858V | Missense | 40/52 | - |
2-202626242-C-T | ALS2 | c.475G>A | p.E159K | Missense | 4/34 | - |
9-139368953-G-A | SEC16A | c.3115C>T | p.R1039C | Missense | 3/32 | - |
11-7694002-G-A | CYB5R2 | c.55C>T | p.P19S | Missense | 2/9 | - |
8-67380528-T-C | ADHFE1 | c.1345T>C | p.C449R | Missense | 14/14 | - |
1-196642233-G-A | CFH | c.184G>A | p.V62I | Missense | 2/22 | - |
19-55527081-C-T | GP6 | c.745G>A | p.A249T | Missense | 7/8 | - |
19-49671952-G-A | TRPM4 | c.755G>A | p.R252H | Missense | 6/25 | - |
1-237841390-A-G | RYR2 | c.8873A>G | p.Q2958R | Missense | 61/105 | - |
4-24801315-G-A | SOD3 | c.172G>A | p.A58T | Missense | 2/2 | - |
7-107834613-G-C | NRCAM | c.1633C>G | p.P545A | Missense | 17/33 | - |
2-138759649-C-T | HNMT | c.314C>T | p.T105I | Missense | 4/6 | - |
1-186101539-A-G | HMCN1 | c.13310A>G | p.Q4437R | Missense | 86/107 | - |
16-88709828-A-G | CYBA | c.521T>C | p.V174A | Missense | 6/6 | - |
19-49658209-A-C | HRC | c.286T>G | p.S96A | Missense | 1/6 | - |
17-42991449-C-T | GFAP | c.469G>A | p.D157N | Missense | 2/9 | - |
17-648186-G-A | GEMIN4 | c.3097C>T | p.R1033C | Missense | 2/2 | - |
11-619789-T-G | CDHR5 | c.1071A>C | p.R357S | Missense | 10/15 | - |
14-24736961-T-C | RABGGTA | c.1258A>G | p.T420A | Missense | 14/17 | - |
10-106022789-C-A | GSTO1 | c.419C>A | p.A140D | Missense | 4/6 | - |
2-236957822-G-A | AGAP1 | c.2011G>A | p.V671I | Missense | 16/18 | - |
7-100486754-G-C | UFSP1 | c.139C>G | p.L47V | Missense | 1/1 | - |
1-182551337-A-C | RNASEL | c.1623T>G | p.D541E | Missense | 4/7 | - |
5-7878179-C-T | MTRR | c.524C>T | p.S175L | Missense | 5/15 | - |
5-78421959-G-A | BHMT | c.716G>A | p.R239Q | Missense | 6/8 | - |
2-169847329-T-C | ABCB11 | c.890A>G | p.E297G | Missense | 9/28 | - |
3-195800811-C-T | TFRC | c.424G>A | p.G142S | Missense | 4/19 | - |
8-18080308-A-T | NAT1 | c.752A>T | p.D251V | Missense | 3/3 | - |
14-64935411-C-T | AKAP5 | c.299C>T | p.P100L | Missense | 2/2 | - |
22-30163526-A-G | UQCR10 | c.139A>G | p.I47V | Missense | 1/2 | - |
1-113456546-A-T | SLC16A1 | c.1470T>A | p.D490E | Missense | 5/5 | - |
11-102713620-T-C | MMP3 | c.133A>G | p.K45E | Missense | 2/10 | - |
2-209108301-T-C | IDH1 | c.548A>G | p.Y183C | Missense | 6/10 | - |
16-4033436-T-C | ADCY9 | c.2316A>G | p.I772M | Missense | 7/11 | - |
14-88401213-T-C | GALC | c.1921A>G | p.T641A | Missense | 17/17 | - |
17-78079597-A-G | GAA | c.596A>G | p.H199R | Missense | 3/20 | - |
20-5903848-C-G | CHGB | c.1058C>G | p.A353G | Missense | 4/5 | - |
14-93399101-C-T | CHGA | c.1195C>T | p.R399W | Missense | 7/8 | - |
19-13409696-C-G | CACNA1A | c.2751G>C | p.E917D | Missense | 19/47 | - |
19-13409472-T-A | CACNA1A | c.2975A>T | p.E992V | Missense | 19/47 | - |
6-38650628-T-G | GLO1 | c.332A>C | p.E111A | Missense | 4/6 | - |
19-45412314-T-A | APOE | c.761T>A | p.V254E | Missense | 4/4 | - |
19-45411110-T-C | APOE | c.137T>C | p.L46P | Missense | 3/4 | - |
17-38122680-G-C | GSDMA | c.382G>C | p.V128L | Missense | 3/12 | - |
12-88440676-G-C | C12orf29 | c.712G>C | p.V238L | Missense | 6/7 | - |
11-237087-A-G | PSMD13 | c.38A>G | p.N13S | Missense | 1/13 | - |
10-81926702-G-A | ANXA11 | c.688C>T | p.R230C | Missense | 7/16 | - |
17-38122680-G-T | GSDMA | c.382G>T | p.V128L | Missense | 3/12 | - |
19-41510282-A-G | CYP2B6 | c.415A>G | p.K139E | Missense | 3/9 | - |
1-36898067-T-C | OSCP1 | c.391A>G | p.T131A | Missense | 3/10 | - |
5-256509-G-A | SDHA | c.1969G>A | p.V657I | Missense | 15/15 | - |
1-53676448-G-A | CPT2 | c.1102G>A | p.V368I | Missense | 4/5 | - |
16-31336888-C-T | ITGAM | c.2573C>T | p.A858V | Missense | 21/30 | - |
7-91630620-G-T | AKAP9 | c.1389G>T | p.M463I | Missense | 8/50 | - |
6-29012067-C-T | OR2W1 | c.886G>A | p.D296N | Missense | 1/1 | - |
11-47188411-C-T | ARFGAP2 | c.1232G>A | p.S411N | Missense | 13/16 | - |
22-36623920-G-A | APOL2 | c.544C>T | p.R182C | Missense | 5/5 | - |
7-97822115-T-A | LMTK2 | c.2338T>A | p.L780M | Missense | 11/14 | - |
1-145608556-C-T | POLR3C | c.251G>A | p.R84Q | Missense | 3/16 | - |
14-94847386-G-A | SERPINA1 | c.739C>T | p.R247C | Missense | 3/5 | - |
1-36886117-C-T | OSCP1 | c.919G>A | p.G307R | Missense | 8/10 | - |
11-11986061-T-C | DKK3 | c.1003A>G | p.R335G | Missense | 7/7 | - |
6-49415448-C-T | MUT | c.1495G>A | p.A499T | Missense | 8/13 | - |
6-49403282-T-C | MUT | c.2011A>G | p.I671V | Missense | 12/13 | - |
11-5246908-C-G | HBB | c.364G>C | p.E122Q | Missense | 3/3 | - |
6-31324615-C-T | HLA-B | c.193G>A | p.A65T | Missense | 2/8 | - |
3-58552329-C-G | FAM107A | c.421G>C | p.E141Q | Missense | 4/4 | - |
11-118352769-G-A | KMT2A | c.3974G>A | p.S1325N | Missense | 7/36 | - |
19-10887847-G-A | DNM2 | c.643G>A | p.D215N | Missense | 5/21 | - |
9-135203409-A-C | SETX | c.3576T>G | p.D1192E | Missense | 10/26 | - |
9-135203409-A-T | SETX | c.3576T>A | p.D1192E | Missense | 10/26 | - |
6-161807855-C-G | PARK2 | c.1138G>C | p.V380L | Missense | 10/12 | - |
14-105643046-C-T | NUDT14 | c.253G>A | p.G85R | Missense | 4/5 | - |
10-5008137-A-G | AKR1C1 | c.116A>G | p.K39R | Missense | 2/9 | - |
12-53516878-G-A | SOAT2 | c.1250G>A | p.R417Q | Missense | 13/15 | - |
14-96777468-G-C | ATG2B | c.4147C>G | p.Q1383E | Missense | 28/42 | - |
11-71943961-C-A | INPPL1 | c.1894C>A | p.L632I | Missense | 16/28 | - |
15-78454050-T-A | IDH3A | c.417T>A | p.D139E | Missense | 5/11 | - |
1-226567661-G-A | PARP1 | c.1505C>T | p.A502V | Missense | 10/23 | - |
3-14220032-C-G | XPC | c.37G>C | p.G13R | Missense | 1/16 | - |
6-29912857-C-G | HLA-A | c.1034C>G | p.T345S | Missense | 6/8 | - |
5-73076511-C-A | ARHGEF28 | c.851C>A | p.P284Q | Missense | 7/36 | - |
1-51826921-T-C | EPS15 | c.2466A>G | p.I822M | Missense | 24/25 | - |
9-38396002-C-T | ALDH1B1 | c.257C>T | p.A86V | Missense | 2/2 | - |
1-8045079-G-A | PARK7 | c.535G>A | p.A179T | Missense | 7/7 | - |
11-65547333-G-A | AP5B1 | c.631C>T | p.L211F | Missense | 2/2 | - |
12-114837349-C-A | TBX5 | c.331G>T | p.D111Y | Missense | 4/9 | - |
12-52842643-C-T | KRT6B | c.1186G>A | p.D396N | Missense | 6/9 | - |
11-62473053-G-A | BSCL2 | c.124C>T | p.R42C | Missense | 2/11 | - |
5-153413390-C-T | FAM114A2 | c.364G>A | p.G122S | Missense | 4/14 | - |
11-57571209-A-G | CTNND1 | c.1537A>G | p.N513D | Missense | 8/21 | - |
18-48458662-G-A | ME2 | c.1349G>A | p.G450E | Missense | 13/16 | - |
12-57037209-T-C | ATP5F1B | c.770A>G | p.N257S | Missense | 5/10 | - |
8-145732180-G-C | GPT | c.1354G>C | p.V452L | Missense | 10/11 | - |
6-80626375-T-C | ELOVL4 | c.895A>G | p.M299V | Missense | 6/6 | - |
3-13395579-C-A | NUP210 | c.2357G>T | p.R786L | Missense | 17/40 | - |
14-21542766-A-G | ARHGEF40 | c.877A>G | p.K293E | Missense | 3/24 | - |
10-68040325-C-T | CTNNA3 | c.1787G>A | p.S596N | Missense | 13/18 | - |
20-3577062-G-A | ATRN | c.3455G>A | p.R1152K | Missense | 21/29 | - |
10-105762972-T-C | SLK | c.2036T>C | p.I679T | Missense | 9/19 | - |
11-86123556-A-G | CCDC81 | c.1346A>G | p.Y449C | Missense | 11/15 | - |
22-37407109-G-C | TST | c.853C>G | p.P285A | Missense | 3/3 | - |
19-11350488-C-T | ANGPTL8 | c.175C>T | p.R59W | Missense | 1/4 | - |
22-23523285-G-T | BCR | c.138G>T | p.E46D | Missense | 1/23 | - |
1-46032311-A-G | AKR1A1 | c.155A>G | p.N52S | Missense | 3/9 | - |
16-14969016-T-G | NOMO1 | c.2178T>G | p.N726K | Missense | 19/31 | - |
16-14969016-T-A | NOMO1 | c.2178T>A | p.N726K | Missense | 19/31 | - |
16-70512234-C-T | FCSK | c.2701C>T | p.R901W | Missense | 21/24 | - |
19-4013276-A-T | PIAS4 | c.383A>T | p.K128M | Missense | 2/11 | - |
17-42745254-C-A | MEIOC | c.1975C>A | p.R659S | Missense | 5/8 | - |
10-70645376-A-C | STOX1 | c.1824A>C | p.E608D | Missense | 3/4 | - |
8-98703317-A-G | MTDH | c.949A>G | p.T317A | Missense | 6/12 | - |
10-81923357-G-T | ANXA11 | c.962C>A | p.T321N | Missense | 10/16 | - |
12-104187732-G-T | NT5DC3 | c.797C>A | p.A266E | Missense | 7/14 | - |
12-2908330-C-A | FKBP4 | c.591C>A | p.N197K | Missense | 5/10 | - |
1-89523756-G-T | GBP1 | c.793C>A | p.Q265K | Missense | 6/11 | - |
11-108586617-A-G | DDX10 | c.1334A>G | p.E445G | Missense | 11/18 | - |
17-30183857-T-C | COPRS | c.127A>G | p.S43G | Missense | 2/4 | - |
17-663472-C-A | GLOD4 | c.838G>T | p.A280S | Missense | 9/9 | - |
8-120596023-A-G | ENPP2 | c.1477T>C | p.S493P | Missense | 17/25 | - |
16-58752466-C-T | GOT2 | c.562G>A | p.G188S | Missense | 5/10 | - |
10-101912064-T-C | ERLIN1 | c.871A>G | p.I291V | Missense | 11/11 | - |
1-110466555-G-A | CSF1 | c.1312G>A | p.G438R | Missense | 6/9 | - |
14-94847415-A-G | SERPINA1 | c.710T>C | p.V237A | Missense | 3/5 | - |
9-127262802-C-G | NR5A1 | c.437G>C | p.G146A | Missense | 4/7 | - |
1-234745009-A-G | IRF2BP2 | c.232T>C | p.S78P | Missense | 1/2 | - |
2-159517871-C-T | PKP4 | c.2120C>T | p.A707V | Missense | 13/22 | - |
17-56787304-G-A | RAD51C | c.790G>A | p.G264S | Missense | 5/9 | - |
5-132408967-G-A | HSPA4 | c.475G>A | p.A159T | Missense | 5/19 | - |
10-64564934-C-G | ADO | c.115C>G | p.P39A | Missense | 1/1 | - |
9-136501756-G-C | DBH | c.263G>C | p.G88A | Missense | 1/12 | - |
11-121393684-G-A | SORL1 | c.1582G>A | p.A528T | Missense | 11/48 | - |
5-160042903-G-C | ATP10B | c.2595C>G | p.N865K | Missense | 17/26 | - |
12-107360943-G-A | TMEM263 | c.49G>A | p.D17N | Missense | 3/4 | - |
17-78078656-G-A | GAA | c.271G>A | p.D91N | Missense | 2/20 | - |
14-21549893-G-C | ARHGEF40 | c.2866G>C | p.V956L | Missense | 14/24 | - |
17-78306280-A-G | RNF213 | c.3992A>G | p.D1331G | Missense | 21/68 | - |
18-74728823-C-T | MBP | c.541G>A | p.G181S | Missense | 4/9 | - |
19-8326904-G-A | CERS4 | c.1096G>A | p.A366T | Missense | 12/12 | - |
2-55872538-T-C | PNPT1 | c.1768A>G | p.N590D | Missense | 22/28 | - |
20-1426393-C-T | NSFL1C | c.868G>A | p.D290N | Missense | 8/9 | - |
7-89984409-A-G | GTPBP10 | c.329A>G | p.N110S | Missense | 4/10 | - |
17-5461671-G-C | NLRP1 | c.2345C>G | p.T782S | Missense | 4/17 | - |
9-139235415-C-T | GPSM1 | c.1172C>T | p.S391L | Missense | 9/14 | - |
4-128811117-G-C | PLK4 | c.1556G>C | p.W519S | Missense | 7/16 | - |
10-81925866-T-C | ANXA11 | c.832A>G | p.I278V | Missense | 8/16 | - |
1-184020945-G-A | TSEN15 | c.56G>A | p.G19D | Missense | 1/5 | - |
2-111598958-C-T | ACOXL | c.764C>T | p.T255M | Missense | 10/18 | - |
15-62254989-T-C | VPS13C | c.3394A>G | p.I1132V | Missense | 33/85 | - |
21-38081500-G-A | SIM2 | c.208G>A | p.A70T | Missense | 2/11 | - |
5-169015479-G-A | SPDL1 | c.59G>A | p.R20Q | Missense | 2/12 | - |
22-19959473-C-T | ARVCF | c.2717G>A | p.R906Q | Missense | 18/20 | - |
22-43558972-G-A | TSPO | c.485G>A | p.R162H | Missense | 4/4 | - |
17-46022065-G-A | PNPO | c.347G>A | p.R116Q | Missense | 3/7 | - |
4-71888240-C-T | DCK | c.364C>T | p.P122S | Missense | 3/7 | - |
20-39797465-T-C | PLCG1 | c.2438T>C | p.I813T | Missense | 21/32 | - |
7-1976457-C-T | MAD1L1 | c.1673G>A | p.R558H | Missense | 17/19 | - |
14-68265135-G-A | ZFYVE26 | c.1844C>T | p.S615F | Missense | 11/42 | - |
11-113270160-A-G | ANKK1 | c.1469A>G | p.H490R | Missense | 8/8 | - |
17-78079669-G-A | GAA | c.668G>A | p.R223H | Missense | 3/20 | - |
1-16256007-T-C | SPEN | c.3272T>C | p.L1091P | Missense | 11/15 | - |
2-208632817-G-A | FZD5 | c.647C>T | p.P216L | Missense | 2/2 | - |
22-29885473-C-T | NEFH | c.1844C>T | p.P615L | Missense | 4/4 | - |
6-100964147-G-C | ASCC3 | c.5984C>G | p.S1995C | Missense | 39/42 | - |
11-46898771-T-C | LRP4 | c.3256A>G | p.I1086V | Missense | 23/38 | - |
11-68562328-C-T | CPT1A | c.823G>A | p.A275T | Missense | 8/19 | - |
20-25398748-C-T | GINS1 | c.247C>T | p.R83C | Missense | 4/7 | - |
17-649935-G-C | GEMIN4 | c.1348C>G | p.Q450E | Missense | 2/2 | - |
12-3724583-T-C | CRACR2A | c.2134A>G | p.T712A | Missense | 20/20 | - |
6-109323519-G-T | SESN1 | c.307C>A | p.L103I | Missense | 2/10 | - |
7-134135621-T-C | AKR1B1 | c.268A>G | p.K90E | Missense | 3/10 | - |
19-2226772-G-C | DOT1L | c.4252G>C | p.V1418L | Missense | 27/28 | - |
9-271638-C-T | DOCK8 | c.65C>T | p.A22V | Missense | 2/48 | - |
7-24758818-G-T | DFNA5 | c.424C>A | p.P142T | Missense | 4/10 | - |
21-47558552-G-A | FTCD | c.1313C>T | p.A438V | Missense | 12/14 | - |
17-71196139-C-T | COG1 | c.1049C>T | p.T350M | Missense | 5/14 | - |
6-24291203-T-C | DCDC2 | c.661A>G | p.S221G | Missense | 5/10 | - |
11-58978684-G-A | MPEG1 | c.1655C>T | p.P552L | Missense | 1/1 | - |
4-9909923-G-A | SLC2A9 | c.1049C>T | p.P350L | Missense | 8/12 | - |
6-161807855-C-A | PRKN | c.1138G>T | p.V380L | Missense | 10/12 | - |
5-80409526-T-C | RASGRF2 | c.2257T>C | p.S753P | Missense | 15/27 | - |
9-8518052-G-C | PTPRD | c.1339C>G | p.Q447E | Missense | 21/46 | - |
17-42989063-C-T | GFAP | c.883G>A | p.D295N | Missense | 5/9 | - |
17-42992715-G-A | GFAP | c.140C>T | p.P47L | Missense | 1/9 | - |
17-42990750-C-G | GFAP | c.667G>C | p.E223Q | Missense | 4/9 | - |
11-71726168-G-C | NUMA1 | c.2381C>G | p.A794G | Missense | 15/27 | - |
16-89598369-G-A | SPG7 | c.1045G>A | p.G349S | Missense | 8/17 | - |
11-33777334-C-T | FBXO3 | c.661G>A | p.V221I | Missense | 5/11 | - |
3-167508198-G-A | SERPINI1 | c.289G>A | p.V97I | Missense | 3/9 | - |
16-58743454-A-C | GOT2 | c.1037T>G | p.V346G | Missense | 9/10 | - |
1-117122130-T-C | IGSF3 | c.3218A>G | p.Q1073R | Missense | 10/11 | - |
12-128900005-G-A | TMEM132C | c.814G>A | p.V272I | Missense | 2/9 | - |
5-33989518-C-T | AMACR | c.829G>A | p.E277K | Missense | 5/5 | - |
15-45661678-T-A | GATM | c.330A>T | p.Q110H | Missense | 3/9 | - |
15-45661678-T-G | GATM | c.330A>C | p.Q110H | Missense | 3/9 | - |
18-43310415-G-A | SLC14A1 | c.130G>A | p.E44K | Missense | 3/10 | - |
1-22150118-C-T | LDLRAD2 | c.*1410C>T | - | 3-UTRSNV | 5/5 | - |
14-77845121-A-G | SAMD15 | c.1360A>G | p.K454E | Missense | 1/3 | - |
2-152139416-G-A | NMI | c.47C>T | p.S16L | Missense | 2/8 | - |
6-151674326-A-C | AKAP12 | c.4800A>C | p.E1600D | Missense | 4/5 | - |
4-88416188-G-T | SPARCL1 | c.146C>A | p.A49D | Missense | 3/11 | - |
1-75175886-T-C | CRYZ | c.526A>G | p.I176V | Missense | 6/9 | - |
3-12848822-T-C | CAND2 | c.230T>C | p.V77A | Missense | 3/15 | - |
3-58118555-G-A | FLNB | c.4411G>A | p.V1471M | Missense | 26/46 | - |
16-30408765-C-T | ZNF48 | c.194C>T | p.A65V | Missense | 3/3 | - |
9-140917779-G-T | CACNA1B | c.2584G>T | p.A862S | Missense | 19/47 | - |
17-78302157-C-A | RNF213 | c.3397C>A | p.Q1133K | Missense | 20/68 | - |
11-64789194-T-C | ARL2 | c.422T>C | p.V141A | Missense | 5/5 | - |
15-43818052-G-A | MAP1A | c.4381G>A | p.D1461N | Missense | 4/6 | - |
16-4933939-G-C | PPL | c.4717C>G | p.Q1573E | Missense | 22/22 | - |
11-48166267-G-T | PTPRJ | c.2616G>T | p.E872D | Missense | 13/25 | - |
3-49701298-G-A | BSN | c.11587G>A | p.A3863T | Missense | 8/12 | - |
4-96106322-A-G | UNC5C | c.2162T>C | p.M721T | Missense | 13/16 | - |
10-135184126-G-A | ECHS1 | c.224C>T | p.T75I | Missense | 2/8 | - |
12-7090193-A-G | LPCAT3 | c.650T>C | p.I217T | Missense | 6/13 | - |
13-25831888-T-C | MTMR6 | c.955A>G | p.I319V | Missense | 8/14 | - |
14-105935824-G-A | MTA1 | c.1834G>A | p.A612T | Missense | 19/21 | - |
1-205031116-C-T | CNTN2 | c.1097C>T | p.P366L | Missense | 9/23 | - |
12-53069014-T-C | KRT1 | c.1898A>G | p.K633R | Missense | 9/9 | - |
4-123838758-A-G | NUDT6 | c.340T>C | p.C114R | Missense | 2/5 | - |
3-52523405-C-T | NISCH | c.3167C>T | p.A1056V | Missense | 17/21 | - |
5-108714298-T-C | PJA2 | c.890A>G | p.Q297R | Missense | 4/10 | - |
1-16259813-A-G | SPEN | c.7078A>G | p.N2360D | Missense | 11/15 | - |
17-3947644-T-C | ZZEF1 | c.6040A>G | p.I2014V | Missense | 38/55 | - |
3-16364954-C-T | RFTN1 | c.1261G>A | p.V421I | Missense | 9/10 | - |
11-61108974-G-A | TKFC | c.553G>A | p.A185T | Missense | 6/18 | - |
2-44004010-T-C | DYNC2LI1 | c.98T>C | p.F33S | Missense | 2/13 | - |
1-93620393-G-A | TMED5 | c.524C>T | p.T175I | Missense | 4/4 | - |
3-119219573-A-G | TIMMDC1 | c.226A>G | p.N76D | Missense | 2/7 | - |
7-4841313-A-G | RADIL | c.2813T>C | p.L938P | Missense | 12/15 | - |
9-131565554-T-C | TBC1D13 | c.569T>C | p.V190A | Missense | 8/12 | - |
16-12897578-G-T | CPPED1 | c.56C>A | p.A19D | Missense | 1/4 | - |
3-44884647-C-A | KIF15 | c.3616C>A | p.L1206M | Missense | 30/35 | - |
6-5260936-A-C | LYRM4 | c.31T>G | p.S11A | Missense | 1/3 | - |
10-25888180-A-G | GPR158 | c.3625A>G | p.I1209V | Missense | 11/11 | - |
16-84522897-G-T | MEAK7 | c.516C>A | p.D172E | Missense | 4/8 | - |
20-7963041-C-G | TMX4 | c.907G>C | p.G303R | Missense | 8/8 | - |
2-38604351-A-G | ATL2 | c.52T>C | p.W18R | Missense | 1/13 | - |
17-48628470-T-A | SPATA20 | c.1495T>A | p.S499T | Missense | 12/17 | - |
3-46008790-G-A | FYCO1 | c.2036C>T | p.A679V | Missense | 8/18 | - |
16-4445327-C-T | CORO7 | c.578G>A | p.R193Q | Missense | 7/28 | - |
19-17450016-T-C | GTPBP3 | c.749T>C | p.V250A | Missense | 6/9 | - |
4-169928842-G-T | CBR4 | c.208C>A | p.L70M | Missense | 2/5 | - |
8-145057868-A-G | PARP10 | c.1889T>C | p.V630A | Missense | 8/11 | - |
6-150184882-G-C | LRP11 | c.275C>G | p.P92R | Missense | 1/7 | - |
1-27339103-G-T | TENT5B | c.59C>A | p.T20K | Missense | 1/2 | - |
9-108147763-T-G | SLC44A1 | c.1930T>G | p.S644A | Missense | 15/16 | - |
1-75214441-A-G | TYW3 | c.361A>G | p.M121V | Missense | 4/6 | - |
1-110301260-C-T | EPS8L3 | c.487G>A | p.G163S | Missense | 7/19 | - |
4-84383810-C-T | ABRAXAS1 | c.1042G>A | p.A348T | Missense | 9/9 | - |
10-116719543-G-A | TRUB1 | c.500G>A | p.R167K | Missense | 4/8 | - |
15-102264304-G-C | TARS3 | c.287C>G | p.A96G | Missense | 1/19 | - |
14-103342049-T-C | TRAF3 | c.386T>C | p.M129T | Missense | 5/12 | - |
14-74058832-C-T | ACOT4 | c.169C>T | p.R57C | Missense | 1/3 | - |
17-39659913-G-A | KRT13 | c.560C>T | p.A187V | Missense | 2/8 | - |
17-4796286-C-T | MINK1 | c.2324C>T | p.P775L | Missense | 20/32 | - |
1-173516871-G-C | SLC9C2 | c.1514C>G | p.A505G | Missense | 13/28 | - |
8-10469233-A-G | RP1L1 | c.2375T>C | p.L792P | Missense | 4/4 | - |
14-64522674-G-C | SYNE2 | c.9757G>C | p.D3253H | Missense | 49/116 | - |
14-64491695-T-C | SYNE2 | c.5906T>C | p.M1969T | Missense | 40/116 | - |
1-100575933-G-A | SASS6 | c.776C>T | p.A259V | Missense | 8/17 | - |
1-225607144-C-T | LBR | c.461G>A | p.S154N | Missense | 5/14 | - |
7-102743893-C-T | NAPEPLD | c.1165G>A | p.D389N | Missense | 5/5 | - |
11-20805286-G-A | NELL1 | c.245G>A | p.R82Q | Missense | 3/20 | - |
2-219678877-C-T | CYP27A1 | c.1151C>T | p.P384L | Missense | 6/9 | - |
2-85554080-G-A | TGOLN2 | c.775C>T | p.R259W | Missense | 2/4 | - |
22-29885204-G-C | NEFH | c.1575G>C | p.K525N | Missense | 4/4 | - |
22-29885204-G-T | NEFH | c.1575G>T | p.K525N | Missense | 4/4 | - |
22-29881797-A-C | NEFH | c.1169A>C | p.N390T | Missense | 3/4 | - |
6-39859484-A-C | DAAM2 | c.2327A>C | p.K776T | Missense | 19/25 | - |
17-7366619-T-C | ZBTB4 | c.1682A>G | p.N561S | Missense | 4/4 | - |
16-2122886-G-A | TSC2 | c.2257G>A | p.A753T | Missense | 21/42 | - |
1-158654938-A-G | SPTA1 | c.224T>C | p.I75T | Missense | 2/52 | - |
1-118166385-G-A | TENT5C | c.895G>A | p.E299K | Missense | 2/2 | - |
12-60173357-C-G | SLC16A7 | c.1334C>G | p.T445S | Missense | 6/6 | - |
12-60173356-A-T | SLC16A7 | c.1333A>T | p.T445S | Missense | 6/6 | - |
12-113589799-G-A | CFAP73 | c.133G>A | p.A45T | Missense | 2/8 | - |
12-123344021-G-A | HIP1R | c.2344G>A | p.V782M | Missense | 23/32 | - |
17-80863857-T-C | TBCD | c.1850T>C | p.M617T | Missense | 20/39 | - |
18-33718326-A-C | ELP2 | c.382A>C | p.T128P | Missense | 4/22 | - |
19-17316782-T-C | MYO9B | c.5078T>C | p.V1693A | Missense | 32/40 | - |
20-56189985-C-G | ZBP1 | c.460G>C | p.D154H | Missense | 4/8 | - |
21-44324365-G-A | NDUFV3 | c.1243G>A | p.D415N | Missense | 3/4 | - |
10-87484382-C-T | GRID1 | c.1585G>A | p.V529I | Missense | 11/16 | - |
12-117705934-T-A | NOS1 | c.1855A>T | p.M619L | Missense | 11/29 | - |
16-1997004-C-T | RPL3L | c.784G>A | p.V262M | Missense | 6/10 | - |
16-11374994-C-A | PRM1 | c.102G>T | p.R34S | Missense | 1/2 | - |
3-49689210-G-A | BSN | c.2221G>A | p.A741T | Missense | 5/12 | - |
2-84670490-C-T | SUCLG1 | c.236G>A | p.G79D | Missense | 3/9 | - |
7-44104839-C-T | PGAM2 | c.290G>A | p.G97D | Missense | 1/3 | - |
10-70645376-A-T | STOX1 | c.1824A>T | p.E608D | Missense | 3/4 | - |
11-5255582-C-A | HBD | c.82G>T | p.A28S | Missense | 1/3 | - |
11-73717247-C-T | UCP3 | c.304G>A | p.V102I | Missense | 3/7 | - |
X-19375782-A-C | PDHA1 | c.844A>C | p.M282L | Missense | 9/11 | - |
14-74539060-T-C | ALDH6A1 | c.194A>G | p.N65S | Missense | 4/12 | - |
16-30078568-C-G | ALDOA | c.155C>G | p.T52S | Missense | 3/10 | - |
16-30078567-A-T | ALDOA | c.154A>T | p.T52S | Missense | 3/10 | - |
4-108948850-C-A | HADH | c.643C>A | p.P215T | Missense | 6/8 | - |
5-132100013-G-A | SEPTIN8 | c.250C>T | p.R84W | Missense | 3/10 | - |
12-109639483-G-A | ACACB | c.2890G>A | p.D964N | Missense | 19/53 | - |
19-39220016-G-A | ACTN4 | c.2680G>A | p.G894S | Missense | 21/21 | - |
1-200870222-G-A | C1orf106 | c.455G>A | p.R152H | Missense | 5/10 | - |
12-52981512-G-A | KRT72 | c.1213C>T | p.R405W | Missense | 7/9 | - |
12-53242579-C-T | KRT78 | c.136G>A | p.G46R | Missense | 1/9 | - |
12-53242579-C-G | KRT78 | c.136G>C | p.G46R | Missense | 1/9 | - |
12-106460938-G-C | NUAK1 | c.1628C>G | p.P543R | Missense | 7/7 | - |
16-460358-G-C | DECR2 | c.453G>C | p.K151N | Missense | 5/9 | - |
16-460358-G-T | DECR2 | c.453G>T | p.K151N | Missense | 5/9 | - |
17-8644854-C-T | CCDC42 | c.430G>A | p.A144T | Missense | 4/7 | - |
17-37316988-T-C | ARL5C | c.347A>G | p.Q116R | Missense | 5/6 | - |
17-79954544-T-A | ASPSCR1 | c.755T>A | p.L252Q | Missense | 7/16 | - |
18-6980523-T-C | LAMA1 | c.6004A>G | p.K2002E | Missense | 42/63 | - |
19-12876964-G-T | HOOK2 | c.1464C>A | p.H488Q | Missense | 15/23 | - |
19-12876964-G-C | HOOK2 | c.1464C>G | p.H488Q | Missense | 15/23 | - |
20-25259006-G-T | PYGB | c.907G>T | p.A303S | Missense | 8/20 | - |
20-25262769-G-A | PYGB | c.1504G>A | p.D502N | Missense | 12/20 | - |
21-47850484-G-T | PCNT | c.7977G>T | p.Q2659H | Missense | 37/47 | - |
21-47850484-G-C | PCNT | c.7977G>C | p.Q2659H | Missense | 37/47 | - |
22-25424579-C-A | KIAA1671 | c.613C>A | p.P205T | Missense | 3/13 | - |
11-75378674-A-C | MAP6 | c.741T>G | p.I247M | Missense | 1/4 | - |
6-43403496-C-T | ABCC10 | c.1616C>T | p.T539M | Missense | 5/22 | - |
12-39973395-C-T | ABCD2 | c.1819G>A | p.D607N | Missense | 8/10 | - |
10-114177616-G-A | ACSL5 | c.1231G>A | p.G411R | Missense | 14/21 | - |
5-56778305-A-G | ACTBL2 | c.230T>C | p.V77A | Missense | 1/1 | - |
9-111625629-C-G | ACTL7A | c.1027C>G | p.L343V | Missense | 1/1 | - |
6-25605091-G-A | CARMIL1 | c.3604G>A | p.G1202S | Missense | 34/37 | - |
11-117711076-C-T | FXYD6 | c.217G>A | p.G73R | Missense | 6/8 | - |
12-49390677-T-C | DDN | c.1982A>G | p.E661G | Missense | 2/2 | - |
17-79093822-A-G | AATK | c.3797T>C | p.F1266S | Missense | 12/14 | - |
11-117711076-C-G | FXYD6 | c.217G>C | p.G73R | Missense | 6/8 | - |
9-135786904-A-G | TSC1 | c.965T>C | p.M322T | Missense | 10/23 | - |
1-40775937-G-A | COL9A2 | c.737C>T | p.T246M | Missense | 14/32 | - |
2-209108317-C-T | IDH1 | c.532G>A | p.V178I | Missense | 6/10 | - |
6-117086378-C-A | FAM162B | c.213G>T | p.Q71H | Missense | 2/4 | - |
6-117086378-C-G | FAM162B | c.213G>C | p.Q71H | Missense | 2/4 | - |
16-88782050-G-A | PIEZO1 | c.7529C>T | p.P2510L | Missense | 51/51 | - |
3-12881028-C-T | RPL32 | c.98G>A | p.R33H | Missense | 3/4 | - |
4-72622601-T-C | GC | c.862A>G | p.N288D | Missense | 8/13 | - |
2-21232044-C-T | APOB | c.7696G>A | p.E2566K | Missense | 26/29 | - |
4-95496882-C-T | PDLIM5 | c.407C>T | p.S136F | Missense | 5/13 | - |
10-106027059-G-A | GSTO1 | c.622G>A | p.E208K | Missense | 6/6 | - |
1-115466098-C-G | SYCP1 | c.1747C>G | p.L583V | Missense | 21/32 | - |
17-2203167-T-G | SMG6 | c.880A>C | p.K294Q | Missense | 2/19 | - |
3-123457893-G-A | MYLK | c.439C>T | p.P147S | Missense | 7/34 | - |
3-180377529-G-C | CCDC39 | c.545C>G | p.T182S | Missense | 5/20 | - |
19-11537603-G-A | CCDC151 | c.614C>T | p.T205I | Missense | 5/13 | - |
6-71298323-C-T | SDHAF4 | c.223C>T | p.P75S | Missense | 3/3 | - |
12-109283278-C-T | DAO | c.343C>T | p.R115W | Missense | 4/11 | - |
1-12032953-G-A | PLOD1 | c.1927G>A | p.V643I | Missense | 18/19 | - |
10-127496038-T-A | UROS | c.338A>T | p.D113V | Missense | 6/10 | - |
16-11374994-C-G | PRM1 | c.102G>C | p.R34S | Missense | 1/2 | - |
17-27208326-C-T | FLOT2 | c.982G>A | p.A328T | Missense | 9/11 | - |
17-4720469-C-T | PLD2 | c.1730C>T | p.T577I | Missense | 17/25 | - |
1-16351275-A-G | CLCNKA | c.247A>G | p.R83G | Missense | 4/20 | - |
3-135721781-C-G | PPP2R3A | c.1441C>G | p.P481A | Missense | 2/14 | - |
1-185976370-A-G | HMCN1 | c.4586A>G | p.N1529S | Missense | 30/107 | - |
X-153587375-T-C | FLNA | c.4451A>G | p.Q1484R | Missense | 26/48 | - |
19-10742166-C-T | SLC44A2 | c.457C>T | p.L153F | Missense | 7/22 | - |
3-45134822-T-C | CDCP1 | c.1574A>G | p.Q525R | Missense | 6/9 | - |
19-51361472-C-A | KLK3 | c.394C>A | p.L132I | Missense | 3/5 | - |
1-47282755-G-C | CYP4B1 | c.1109G>C | p.C370S | Missense | 9/12 | - |
9-101056122-T-C | GABBR2 | c.2605A>G | p.T869A | Missense | 18/19 | - |
10-61831984-G-T | ANK3 | c.8655C>A | p.H2885Q | Missense | 37/44 | - |
2-211060050-T-G | ACADL | c.997A>C | p.K333Q | Missense | 9/11 | - |
6-52767205-T-G | GSTA3 | c.211A>C | p.I71L | Missense | 4/7 | - |
1-110231746-A-G | GSTM1 | c.254A>G | p.N85S | Missense | 4/8 | - |
1-110257647-T-C | GSTM5 | c.439T>C | p.W147R | Missense | 6/8 | - |
2-198351804-C-G | HSPD1 | c.1688G>C | p.G563A | Missense | 12/12 | - |
17-1782952-A-G | RPA1 | c.1051A>G | p.T351A | Missense | 11/17 | - |
2-100055506-A-G | REV1 | c.770T>C | p.F257S | Missense | 6/23 | - |
22-50728062-T-C | PLXNB2 | c.952A>G | p.K318E | Missense | 3/37 | - |
13-99083321-C-T | FARP1 | c.1930C>T | p.H644Y | Missense | 18/27 | - |
7-134618710-A-G | CALD1 | c.1190A>G | p.H397R | Missense | 5/15 | - |
2-169824983-T-C | ABCB11 | c.2029A>G | p.M677V | Missense | 17/28 | - |
21-45107562-T-C | RRP1B | c.1307T>C | p.L436P | Missense | 13/16 | - |
6-94120639-T-C | EPHA7 | c.412A>G | p.I138V | Missense | 3/17 | - |
4-114294537-G-A | ANK2 | c.11791G>A | p.E3931K | Missense | 45/46 | - |
16-89613123-A-G | SPG7 | c.1507A>G | p.T503A | Missense | 11/17 | - |
3-46009487-G-A | FYCO1 | c.1339C>T | p.R447C | Missense | 8/18 | - |
16-4431360-G-A | VASN | c.482G>A | p.R161Q | Missense | 2/2 | - |
14-105850798-C-T | PACS2 | c.1889C>T | p.A630V | Missense | 17/25 | - |
2-136537941-C-A | UBXN4 | c.1374C>A | p.S458R | Missense | 12/13 | - |
2-136537941-C-G | UBXN4 | c.1374C>G | p.S458R | Missense | 12/13 | - |
11-124793682-T-C | HEPACAM | c.652A>G | p.M218V | Missense | 3/7 | - |
2-160112881-G-T | WDSUB1 | c.958C>A | p.R320S | Missense | 9/11 | - |
12-122326812-T-C | PSMD9 | c.50T>C | p.V17A | Missense | 1/6 | - |
5-89703641-C-G | CETN3 | c.28G>C | p.V10L | Missense | 2/5 | - |
1-236702210-A-G | LGALS8 | c.166A>G | p.M56V | Missense | 4/10 | - |
16-89628073-G-A | RPL13 | c.334G>A | p.A112T | Missense | 4/6 | - |
16-3724465-G-C | TRAP1 | c.919C>G | p.R307G | Missense | 9/18 | - |
20-5903323-G-A | CHGB | c.533G>A | p.R178Q | Missense | 4/5 | - |
7-134889141-G-A | WDR91 | c.770C>T | p.P257L | Missense | 6/15 | - |
1-15909850-C-G | AGMAT | c.313G>C | p.G105R | Missense | 2/7 | - |
7-6449496-T-C | DAGLB | c.1991A>G | p.Q664R | Missense | 15/15 | - |
20-61512606-T-C | DIDO1 | c.4702A>G | p.T1568A | Missense | 16/16 | - |
6-30548210-A-G | ABCF1 | c.592A>G | p.N198D | Missense | 8/25 | - |
17-66267650-T-G | SLC16A6 | c.651A>C | p.E217D | Missense | 5/6 | - |
17-66267650-T-A | SLC16A6 | c.651A>T | p.E217D | Missense | 5/6 | - |
11-67250676-G-A | AIP | c.47G>A | p.R16H | Missense | 1/6 | - |
1-237730059-C-T | RYR2 | c.3407C>T | p.A1136V | Missense | 28/105 | - |
4-164246489-T-G | NPY1R | c.1121A>C | p.K374T | Missense | 3/3 | - |
12-122018756-C-T | KDM2B | c.61G>A | p.A21T | Missense | 1/23 | - |
17-64738819-A-G | PRKCA | c.1465A>G | p.M489V | Missense | 13/17 | - |
4-6304133-G-A | WFS1 | c.2611G>A | p.V871M | Missense | 8/8 | - |
15-33446311-G-C | FMN1 | c.805C>G | p.P269A | Missense | 4/21 | - |
18-72234625-C-T | CNDP1 | c.713C>T | p.A238V | Missense | 6/12 | - |
4-114279628-T-C | ANK2 | c.9854T>C | p.I3285T | Missense | 38/46 | - |
X-135292164-G-A | FHL1 | c.871G>A | p.D291N | Missense | 6/6 | - |
2-179839888-G-A | CCDC141 | c.422C>T | p.A141V | Missense | 4/24 | - |
9-136302010-C-T | ADAMTS13 | c.1370C>T | p.P457L | Missense | 12/29 | - |
2-99992822-A-C | EIF5B | c.1565A>C | p.K522T | Missense | 10/24 | - |
11-117267884-A-G | CEP164 | c.3356A>G | p.Q1119R | Missense | 27/33 | - |
7-149152906-G-A | ZNF777 | c.208C>T | p.R70W | Missense | 2/6 | - |
20-55088404-A-G | RTF2 | c.511A>G | p.M171V | Missense | 6/9 | - |
11-47306628-G-A | MADD | c.2294G>A | p.R765Q | Missense | 13/36 | - |
8-131124559-T-C | ASAP1 | c.2182A>G | p.I728V | Missense | 24/30 | - |
2-179558366-T-C | TTN | c.31564A>G | p.I10522V | Missense | 119/363 | - |
2-179579093-T-C | TTN | c.26408A>G | p.N8803S | Missense | 91/363 | - |
3-58395863-A-G | PXK | c.1442A>G | p.K481R | Missense | 16/18 | - |
17-48629458-A-G | SPATA20 | c.1874A>G | p.K625R | Missense | 14/17 | - |
13-42465713-C-T | VWA8 | c.494G>A | p.R165H | Missense | 5/45 | - |
22-50319079-T-G | CRELD2 | c.883T>G | p.S295A | Missense | 9/10 | - |
12-7022085-T-A | LRRC23 | c.950T>A | p.V317E | Missense | 7/8 | - |
16-1822642-C-A | MRPS34 | c.327G>T | p.L109F | Missense | 2/3 | - |
16-1822642-C-G | MRPS34 | c.327G>C | p.L109F | Missense | 2/3 | - |
19-40978640-G-A | SPTBN4 | c.112G>A | p.A38T | Missense | 2/36 | - |
19-15587185-C-T | PGLYRP2 | c.296G>A | p.R99Q | Missense | 2/5 | - |
5-33998883-A-G | AMACR | c.602T>C | p.L201S | Missense | 4/5 | - |
18-9117867-T-C | NDUFV2 | c.86T>C | p.V29A | Missense | 2/8 | - |
16-840378-A-G | CHTF18 | c.731A>G | p.K244R | Missense | 6/22 | - |
11-82996988-A-G | CCDC90B | c.28T>C | p.F10L | Missense | 1/9 | - |
11-82996986-A-T | CCDC90B | c.30T>A | p.F10L | Missense | 1/9 | - |
11-82996986-A-C | CCDC90B | c.30T>G | p.F10L | Missense | 1/9 | - |
8-144671956-G-A | EEF1D | c.296C>T | p.A99V | Missense | 3/10 | - |
16-420140-G-A | MRPL28 | c.79C>T | p.H27Y | Missense | 2/6 | - |
9-100823135-G-C | NANS | c.204G>C | p.E68D | Missense | 2/6 | - |
9-100823135-G-T | NANS | c.204G>T | p.E68D | Missense | 2/6 | - |
19-4859937-T-C | PLIN3 | c.166A>G | p.I56V | Missense | 3/8 | - |
7-107593989-T-C | LAMB1 | c.3065A>G | p.Q1022R | Missense | 22/34 | - |
11-34969112-A-G | PDHX | c.301A>G | p.T101A | Missense | 3/11 | - |
17-4856580-T-C | ENO3 | c.254T>C | p.V85A | Missense | 5/12 | - |
17-4856376-A-G | ENO3 | c.212A>G | p.N71S | Missense | 4/12 | - |
6-126278230-G-C | HINT3 | c.107G>C | p.G36A | Missense | 1/5 | - |
6-41900406-C-T | BYSL | c.1276C>T | p.P426S | Missense | 7/7 | - |
2-37456032-C-T | CEBPZ | c.304G>A | p.V102I | Missense | 2/16 | - |
8-22428658-T-C | SORBS3 | c.1667T>C | p.I556T | Missense | 18/21 | - |
7-138740037-G-C | ZC3HAV1 | c.2101C>G | p.Q701E | Missense | 10/13 | - |
20-7963041-C-T | TMX4 | c.907G>A | p.G303R | Missense | 8/8 | - |
16-3721773-G-T | TRAP1 | c.1185C>A | p.D395E | Missense | 11/18 | - |
14-68249499-C-T | ZFYVE26 | c.4370G>A | p.C1457Y | Missense | 21/42 | - |
20-60901986-G-A | LAMA5 | c.5149C>T | p.H1717Y | Missense | 39/80 | - |
20-60899206-C-T | LAMA5 | c.5698G>A | p.V1900M | Missense | 43/80 | - |
20-60902389-G-A | LAMA5 | c.5012C>T | p.T1671M | Missense | 38/80 | - |
19-48954421-G-A | GRWD1 | c.956G>A | p.R319Q | Missense | 6/7 | - |
6-151674326-A-T | AKAP12 | c.4800A>T | p.E1600D | Missense | 4/5 | - |
6-151669875-A-G | AKAP12 | c.349A>G | p.K117E | Missense | 4/5 | - |
6-151672185-A-T | AKAP12 | c.2659A>T | p.S887C | Missense | 4/5 | - |
6-151670172-A-C | AKAP12 | c.646A>C | p.K216Q | Missense | 4/5 | - |
18-33725931-G-A | ELP2 | c.913G>A | p.V305M | Missense | 10/22 | - |
13-46103935-A-G | COG3 | c.2240A>G | p.N747S | Missense | 21/23 | - |
12-101702045-G-A | UTP20 | c.2078G>A | p.R693K | Missense | 18/62 | - |
15-67528374-T-G | AAGAB | c.394A>C | p.I132L | Missense | 4/10 | - |
15-63433766-G-A | LACTB | c.1406G>A | p.R469K | Missense | 6/6 | - |
16-1545448-A-G | TELO2 | c.437A>G | p.Q146R | Missense | 3/21 | - |
10-12143105-C-G | DHTKD1 | c.1821C>G | p.I607M | Missense | 10/17 | - |
2-85622059-T-C | CAPG | c.1004A>G | p.H335R | Missense | 10/10 | - |
2-183622547-T-A | DNAJC10 | c.1938T>A | p.H646Q | Missense | 19/24 | - |
2-183622547-T-G | DNAJC10 | c.1938T>G | p.H646Q | Missense | 19/24 | - |
2-183584755-G-A | DNAJC10 | c.226G>A | p.D76N | Missense | 4/24 | - |
1-236208773-C-T | NID1 | c.736G>A | p.V246I | Missense | 3/20 | - |
4-42020142-A-G | SLC30A9 | c.289A>G | p.T97A | Missense | 3/18 | - |
19-731144-A-G | PALM | c.319A>G | p.T107A | Missense | 5/9 | - |
9-117848394-T-C | TNC | c.1616A>G | p.Q539R | Missense | 3/28 | - |
11-6239344-G-A | FHIP1B | c.1472C>T | p.T491M | Missense | 9/12 | - |
13-60566644-T-C | DIAPH3 | c.1088A>G | p.N363S | Missense | 10/28 | - |
16-65025718-G-A | CDH11 | c.764C>T | p.T255M | Missense | 6/13 | - |
17-79173184-T-C | CEP131 | c.1189A>G | p.T397A | Missense | 10/26 | - |
19-7992976-T-C | TIMM44 | c.1114A>G | p.I372V | Missense | 11/13 | - |
1-226923505-G-T | ITPKB | c.1655C>A | p.P552Q | Missense | 2/8 | - |
5-52096889-C-A | PELO | c.661C>A | p.L221M | Missense | 2/3 | - |
6-79708000-A-C | PHIP | c.1988T>G | p.V663G | Missense | 18/40 | - |
11-117222592-G-A | CEP164 | c.281G>A | p.S94N | Missense | 5/33 | - |
17-45904420-C-T | MRPL10 | c.373G>A | p.V125I | Missense | 3/5 | - |
1-151374025-T-C | PSMB4 | c.701T>C | p.I234T | Missense | 6/7 | - |
21-46387078-G-T | SLX9 | c.482G>T | p.S161I | Missense | 4/6 | - |
4-175225452-G-A | CEP44 | c.439G>A | p.G147S | Missense | 6/12 | - |
11-74053547-C-T | PGM2L1 | c.1591G>A | p.V531I | Missense | 12/14 | - |
11-7687715-T-C | CYB5R2 | c.625A>G | p.N209D | Missense | 8/9 | - |
9-130242166-A-G | LRSAM1 | c.952A>G | p.N318D | Missense | 14/26 | - |
17-76060875-C-G | TNRC6C | c.2459C>G | p.P820R | Missense | 5/22 | - |
17-76060866-C-G | TNRC6C | c.2450C>G | p.P817R | Missense | 5/22 | - |
2-20824498-C-T | HS1BP3 | c.778G>A | p.V260M | Missense | 5/7 | - |
15-83680287-A-G | C15orf40 | c.73T>C | p.C25R | Missense | 1/4 | - |
7-38807165-C-T | VPS41 | c.1219G>A | p.E407K | Missense | 15/29 | - |
1-236706862-G-C | LGALS8 | c.552G>C | p.R184S | Missense | 8/10 | - |
1-236706862-G-T | LGALS8 | c.552G>T | p.R184S | Missense | 8/10 | - |
19-51856469-G-A | ETFB | c.292C>T | p.R98C | Missense | 3/6 | - |
14-69704553-G-T | EXD2 | c.1554G>T | p.Q518H | Missense | 9/10 | - |
14-69704553-G-C | EXD2 | c.1554G>C | p.Q518H | Missense | 9/10 | - |
5-89769728-T-C | MBLAC2 | c.382A>G | p.T128A | Missense | 1/2 | - |
13-41323397-C-T | MRPS31 | c.835G>A | p.D279N | Missense | 6/7 | - |
9-35712003-G-A | TLN1 | c.3680C>T | p.S1227L | Missense | 28/57 | - |
19-7747293-T-G | TRAPPC5 | c.154T>G | p.S52A | Missense | 2/2 | - |
14-75230953-C-T | YLPM1 | c.761C>T | p.P254L | Missense | 1/21 | - |
19-17837512-G-A | MAP1S | c.1319G>A | p.C440Y | Missense | 5/7 | - |
3-16419309-C-T | RFTN1 | c.742G>A | p.E248K | Missense | 5/10 | - |
10-51827934-G-A | WASHC2A | c.73G>A | p.V25M | Missense | 2/31 | - |
2-174946760-T-C | OLA1 | c.761A>G | p.Y254C | Missense | 8/11 | - |
1-222802376-A-G | MIA3 | c.1814A>G | p.K605R | Missense | 4/28 | - |
1-222803204-A-G | MIA3 | c.2642A>G | p.E881G | Missense | 4/28 | - |
13-31891746-G-A | B3GLCT | c.1108G>A | p.E370K | Missense | 13/15 | - |
16-84522897-G-C | MEAK7 | c.516C>G | p.D172E | Missense | 4/8 | - |
22-44379838-A-G | SAMM50 | c.1033A>G | p.I345V | Missense | 12/15 | - |
5-179290845-T-G | TBC1D9B | c.3305A>C | p.K1102T | Missense | 21/21 | - |
2-178417142-C-T | TTC30B | c.350G>A | p.R117H | Missense | 1/1 | - |
19-34868776-T-C | GPI | c.623T>C | p.I208T | Missense | 6/18 | - |
1-114948281-A-G | TRIM33 | c.2519T>C | p.I840T | Missense | 15/20 | - |
2-191161622-T-C | HIBCH | c.136A>G | p.T46A | Missense | 3/14 | - |
14-96781912-T-C | ATG2B | c.3370A>G | p.N1124D | Missense | 22/42 | - |
19-50154904-A-C | SCAF1 | c.1258A>C | p.T420P | Missense | 7/11 | - |
17-33288882-T-A | ZNF830 | c.297T>A | p.H99Q | Missense | 1/1 | - |
17-33288882-T-G | ZNF830 | c.297T>G | p.H99Q | Missense | 1/1 | - |
15-86123988-G-A | AKAP13 | c.2689G>A | p.V897M | Missense | 7/37 | - |
15-86124946-T-C | AKAP13 | c.3647T>C | p.M1216T | Missense | 7/37 | - |
1-228362682-G-A | IBA57 | c.631G>A | p.G211S | Missense | 2/3 | - |
1-213031948-G-C | FLVCR1 | c.154G>C | p.A52P | Missense | 1/10 | - |
1-186321242-C-T | TPR | c.2335G>A | p.V779I | Missense | 19/51 | - |
1-89522646-G-C | GBP1 | c.1046C>G | p.T349S | Missense | 7/11 | - |
1-89522647-T-A | GBP1 | c.1045A>T | p.T349S | Missense | 7/11 | - |
6-33756532-G-A | LEMD2 | c.362C>T | p.A121V | Missense | 1/9 | - |
1-6705944-C-T | DNAJC11 | c.799G>A | p.V267M | Missense | 8/16 | - |
1-27210721-T-C | GPN2 | c.790A>G | p.R264G | Missense | 4/5 | - |
9-104152846-G-A | MRPL50 | c.379C>T | p.L127F | Missense | 2/2 | - |
1-19565344-C-G | EMC1 | c.1034G>C | p.S345T | Missense | 10/23 | - |
1-19413261-T-G | UBR4 | c.14599A>C | p.M4867L | Missense | 100/106 | - |
1-19413261-T-A | UBR4 | c.14599A>T | p.M4867L | Missense | 100/106 | - |
9-71843023-C-A | TJP2 | c.1446C>A | p.D482E | Missense | 9/23 | - |
11-62291953-A-C | AHNAK | c.9936T>G | p.D3312E | Missense | 5/5 | - |
11-62291953-A-T | AHNAK | c.9936T>A | p.D3312E | Missense | 5/5 | - |
16-12758966-T-C | CPPED1 | c.722A>G | p.K241R | Missense | 4/4 | - |
13-25008630-A-G | PARP4 | c.4649T>C | p.L1550P | Missense | 31/34 | - |
13-25000617-C-G | PARP4 | c.4966G>C | p.A1656P | Missense | 33/34 | - |
13-25020863-G-A | PARP4 | c.3322C>T | p.R1108C | Missense | 27/34 | - |
2-30863108-A-G | LCLAT1 | c.754A>G | p.I252V | Missense | 6/6 | - |
9-114359624-C-A | PTGR1 | c.79G>T | p.A27S | Missense | 2/10 | - |
1-117487711-T-A | PTGFRN | c.829T>A | p.S277T | Missense | 3/9 | - |
11-34910397-C-T | APIP | c.227G>A | p.C76Y | Missense | 4/7 | - |
12-93181768-C-A | EEA1 | c.3025G>T | p.A1009S | Missense | 22/29 | - |
17-18221010-A-G | SMCR8 | c.1907A>G | p.N636S | Missense | 1/2 | - |
2-173339808-G-A | ITGA6 | c.1138G>A | p.A380T | Missense | 7/26 | - |
11-20404613-T-G | HTATIP2 | c.591T>G | p.S197R | Missense | 5/5 | - |
11-20404613-T-A | HTATIP2 | c.591T>A | p.S197R | Missense | 5/5 | - |
11-20404611-A-C | HTATIP2 | c.589A>C | p.S197R | Missense | 5/5 | - |
19-12772090-C-T | MAN2B1 | c.1010G>A | p.R337Q | Missense | 7/24 | - |
2-118743630-G-A | CCDC93 | c.535C>T | p.R179C | Missense | 7/24 | - |
3-128976451-C-G | COPG1 | c.718C>G | p.L240V | Missense | 9/24 | - |
11-48166267-G-C | PTPRJ | c.2616G>C | p.E872D | Missense | 13/25 | - |
3-140178485-G-A | CLSTN2 | c.1096G>A | p.V366I | Missense | 7/17 | - |
17-33269648-C-G | CCT6B | c.740G>C | p.G247A | Missense | 7/14 | - |
12-105546172-G-A | WASHC4 | c.2701G>A | p.V901I | Missense | 26/33 | - |
19-19136541-C-T | SUGP2 | c.616G>A | p.G206S | Missense | 3/11 | - |
3-158366900-G-A | GFM1 | c.643G>A | p.V215I | Missense | 5/18 | - |
6-4031998-A-G | PRPF4B | c.247A>G | p.I83V | Missense | 2/15 | - |
6-3010390-C-T | NQO2 | c.139C>T | p.L47F | Missense | 3/7 | - |
11-18102014-G-A | SAAL1 | c.1357C>T | p.R453C | Missense | 12/12 | - |
19-622336-T-G | POLRMT | c.1664A>C | p.E555A | Missense | 9/21 | - |
22-41736090-G-A | ZC3H7B | c.1087G>A | p.D363N | Missense | 10/23 | - |
1-36752433-C-T | THRAP3 | c.602C>T | p.A201V | Missense | 4/12 | - |
7-44444122-G-A | NUDCD3 | c.703C>T | p.R235C | Missense | 4/6 | - |
9-21816758-G-A | MTAP | c.166G>A | p.V56I | Missense | 3/8 | - |
12-88440676-G-T | C12orf29 | c.712G>T | p.V238L | Missense | 6/7 | - |
21-47777063-G-A | PCNT | c.2111G>A | p.G704E | Missense | 13/47 | - |
17-66246416-A-G | AMZ2 | c.88A>G | p.N30D | Missense | 2/7 | - |
17-8402755-T-C | MYH10 | c.3784A>G | p.T1262A | Missense | 30/43 | - |
17-41133071-T-A | RUNDC1 | c.478T>A | p.W160R | Missense | 1/5 | - |
17-41133071-T-C | RUNDC1 | c.478T>C | p.W160R | Missense | 1/5 | - |
1-156641537-C-T | NES | c.2443G>A | p.V815I | Missense | 4/4 | - |
6-126210395-T-G | NCOA7 | c.1195T>G | p.S399A | Missense | 9/16 | - |
1-151733335-T-G | MRPL9 | c.629A>C | p.E210A | Missense | 6/7 | - |
6-45916999-G-T | CLIC5 | c.293C>A | p.P98H | Missense | 3/6 | - |
9-111659483-T-G | ELP1 | c.2446A>C | p.I816L | Missense | 23/37 | - |
9-111659483-T-A | ELP1 | c.2446A>T | p.I816L | Missense | 23/37 | - |
2-233537125-A-G | EFHD1 | c.557A>G | p.K186R | Missense | 3/4 | - |
11-62439569-G-A | UQCC3 | c.265G>A | p.G89S | Missense | 2/2 | - |
13-47354101-C-T | ESD | c.569G>A | p.G190E | Missense | 8/10 | - |
15-90784930-C-A | GDPGP1 | c.790C>A | p.P264T | Missense | 4/4 | - |
15-90784250-T-C | GDPGP1 | c.110T>C | p.M37T | Missense | 4/4 | - |
4-10099340-T-C | WDR1 | c.553A>G | p.I185V | Missense | 5/15 | - |
18-61160287-T-C | SERPINB5 | c.526T>C | p.S176P | Missense | 5/7 | - |
8-38095662-C-T | DDHD2 | c.557C>T | p.T186M | Missense | 5/18 | - |
14-21551069-T-C | ARHGEF40 | c.3566T>C | p.L1189S | Missense | 16/24 | - |
14-21549893-G-T | ARHGEF40 | c.2866G>T | p.V956L | Missense | 14/24 | - |
2-61575308-A-G | USP34 | c.1982T>C | p.M661T | Missense | 15/80 | - |
22-19929227-C-A | TXNRD2 | c.100G>T | p.A34S | Missense | 1/18 | - |
2-69736561-A-G | AAK1 | c.1808T>C | p.V603A | Missense | 14/22 | - |
2-55912120-T-C | PNPT1 | c.361A>G | p.I121V | Missense | 4/28 | - |
16-23536684-T-C | EARS2 | c.1369A>G | p.S457G | Missense | 8/9 | - |
8-145001654-CT-TG | PLEC | c.3679_3680delAGinsCA | p.R1227Q | Missense | 27/32 | - |
19-46141845-T-C | EML2 | c.97A>G | p.M33V | Missense | 3/19 | - |
3-183861243-A-G | EIF2B5 | c.1759A>G | p.I587V | Missense | 13/16 | - |
9-8486142-A-G | PTPRD | c.2675T>C | p.V892A | Missense | 28/46 | - |
10-131557525-A-G | MGMT | c.427A>G | p.I112V | Missense | 4/5 | - |
10-105762591-G-A | SLK | c.1655G>A | p.C552Y | Missense | 9/19 | - |
22-29196469-G-A | XBP1 | c.44C>T | p.P15L | Missense | 1/5 | - |
6-29910663-G-A | HLA-A | c.203G>A | p.R68K | Missense | 2/8 | - |
6-29911203-A-C | HLA-A | c.502A>C | p.K168Q | Missense | 3/8 | - |
6-29911272-T-G | HLA-A | c.571T>G | p.W191G | Missense | 3/8 | - |
6-29912856-A-T | HLA-A | c.1033A>T | p.T345S | Missense | 6/8 | - |
6-31239090-G-C | HLA-C | c.379C>G | p.L127V | Missense | 3/8 | - |
1-236413230-T-A | ERO1B | c.386A>T | p.D129V | Missense | 5/16 | - |
6-31239417-C-T | HLA-C | c.302G>A | p.S101N | Missense | 2/8 | - |
6-31322303-C-G | HLA-B | c.1046G>C | p.C349S | Missense | 7/8 | - |
6-31324064-T-A | HLA-B | c.499A>T | p.T167S | Missense | 3/8 | - |
6-31324516-C-A | HLA-B | c.292G>T | p.D98Y | Missense | 2/8 | - |
6-32632659-C-T | HLA-DQB1 | c.295G>A | p.V99I | Missense | 2/5 | - |
6-33036999-T-C | HLA-DPA1 | c.425A>G | p.K142R | Missense | 3/5 | - |
6-33048640-A-G | HLA-DPB1 | c.292A>G | p.K98E | Missense | 2/6 | - |
6-33048689-G-A | HLA-DPB1 | c.341G>A | p.G114E | Missense | 2/6 | - |
1-175375469-C-A | TNR | c.382G>T | p.A128S | Missense | 3/23 | - |
22-43579049-T-C | TTLL12 | c.284A>G | p.N95S | Missense | 2/14 | - |
3-105260520-C-T | ALCAM | c.902C>T | p.T301M | Missense | 8/16 | - |
9-124081138-G-A | GSN | c.1171G>A | p.D391N | Missense | 10/18 | - |
4-114275049-G-A | ANK2 | c.5275G>A | p.E1759K | Missense | 38/46 | - |
2-190924861-A-G | MSTN | c.674T>C | p.I225T | Missense | 2/3 | - |
16-68344696-C-T | SLC7A6OS | c.134G>A | p.G45D | Missense | 1/5 | - |
3-193334991-G-A | OPA1 | c.473G>A | p.S158N | Missense | 4/31 | - |
1-64095165-A-G | PGM1 | c.316A>G | p.I106V | Missense | 2/11 | - |
1-64095111-A-G | PGM1 | c.262A>G | p.I88V | Missense | 2/11 | - |
1-205180578-C-T | DSTYK | c.86G>A | p.R29Q | Missense | 1/13 | - |
2-240951071-C-T | NDUFA10 | c.712G>A | p.E238K | Missense | 6/10 | - |
16-21982936-G-A | UQCRC2 | c.761G>A | p.R254H | Missense | 9/14 | - |
5-134076812-G-A | CAMLG | c.232G>A | p.V78I | Missense | 2/4 | - |
6-138202173-G-A | TNFAIP3 | c.2090G>A | p.R697K | Missense | 9/9 | - |
3-46592987-A-G | LRRC2 | c.95T>C | p.V32A | Missense | 2/9 | - |
9-134334588-A-G | PRRC2B | c.1249A>G | p.M417V | Missense | 11/32 | - |
12-32908705-G-T | YARS2 | c.104C>A | p.A35D | Missense | 1/5 | - |
16-24788645-T-A | TNRC6A | c.555T>A | p.N185K | Missense | 5/25 | - |
11-63767166-C-T | MACROD1 | c.734G>A | p.S245N | Missense | 6/11 | - |
17-26099450-G-C | NOS2 | c.1588C>G | p.R530G | Missense | 14/27 | - |
15-41195121-G-A | VPS18 | c.2504G>A | p.R835Q | Missense | 5/5 | - |
2-21229446-G-C | APOB | c.10294C>G | p.Q3432E | Missense | 26/29 | - |
10-81111337-C-T | PPIF | c.410C>T | p.P137L | Missense | 4/6 | - |
15-85525556-C-G | PDE8A | c.163C>G | p.L55V | Missense | 1/22 | - |
14-88442712-C-T | GALC | c.742G>A | p.D248N | Missense | 7/17 | - |
1-22150120-C-T | LDLRAD2 | c.*1412C>T | - | 3-UTRSNV | 5/5 | - |
22-46724731-C-G | GTSE1 | c.1871C>G | p.A624G | Missense | 10/12 | - |
6-116943975-G-A | RSPH4A | c.731G>A | p.R244H | Missense | 2/6 | - |
11-8159884-C-G | RIC3 | c.362G>C | p.G121A | Missense | 3/6 | - |
5-140168151-G-T | PCDHA1 | c.2276G>T | p.C759F | Missense | 1/4 | - |
X-50659009-T-C | BMP15 | c.581T>C | p.F194S | Missense | 2/2 | - |
7-102952123-G-C | PMPCB | c.1188G>C | p.E396D | Missense | 10/13 | - |
7-102952123-G-T | PMPCB | c.1188G>T | p.E396D | Missense | 10/13 | - |
5-33448792-C-A | TARS1 | c.284C>A | p.A95E | Missense | 3/19 | - |
19-33878837-G-A | PEPD | c.1303C>T | p.L435F | Missense | 14/15 | - |
9-140127051-G-A | SLC34A3 | c.200G>A | p.R67H | Missense | 4/13 | - |
7-82582846-C-T | PCLO | c.7423G>A | p.V2475I | Missense | 5/25 | - |
10-88722398-A-T | SNCG | c.329A>T | p.E110V | Missense | 4/5 | - |
19-56369189-G-A | NLRP4 | c.430G>A | p.A144T | Missense | 3/10 | - |
11-764414-A-G | TALDO1 | c.962A>G | p.K321R | Missense | 7/8 | - |
18-6986227-G-A | LAMA1 | c.5288C>T | p.A1763V | Missense | 37/63 | - |
5-78135241-C-T | ARSB | c.1151G>A | p.S384N | Missense | 6/8 | - |
9-139990813-C-T | MAN1B1 | c.590C>T | p.P197L | Missense | 4/13 | - |
18-21112206-C-T | NPC1 | c.3797G>A | p.R1266Q | Missense | 25/25 | - |
7-12263971-G-A | TMEM106B | c.401G>A | p.S134N | Missense | 4/8 | - |
1-22181895-C-T | HSPG2 | c.5899G>A | p.V1967I | Missense | 47/97 | - |
6-24596478-T-G | KIAA0319 | c.424A>C | p.T142P | Missense | 3/21 | - |
6-107088231-C-T | QRSL1 | c.32C>T | p.A11V | Missense | 2/11 | - |
3-180377530-T-A | CCDC39 | c.544A>T | p.T182S | Missense | 5/20 | - |
2-166868749-G-A | SCN1A | c.3749C>T | p.T1250M | Missense | 22/29 | - |
1-38411444-C-T | INPP5B | c.136G>A | p.G46S | Missense | 3/24 | - |
11-7509566-A-T | OLFML1 | c.338A>T | p.E113V | Missense | 2/3 | - |
11-103026168-C-A | DYNC2H1 | c.3682C>A | p.L1228I | Missense | 25/89 | - |
19-8326944-G-A | CERS4 | c.1136G>A | p.R379Q | Missense | 12/12 | - |
1-153431406-C-G | S100A7 | c.84G>C | p.E28D | Missense | 2/3 | - |
2-54135936-T-C | PSME4 | c.2614A>G | p.I872V | Missense | 22/47 | - |
7-29070209-G-A | CPVL | c.1304C>T | p.A435V | Missense | 12/13 | - |
14-94750486-T-C | SERPINA10 | c.1151A>G | p.Q384R | Missense | 5/5 | - |
16-3716025-A-T | TRAP1 | c.1330T>A | p.Y444N | Missense | 12/18 | - |
18-72244208-G-A | CNDP1 | c.946G>A | p.D316N | Missense | 8/12 | - |
4-56319244-G-T | CLOCK | c.1183C>A | p.L395I | Missense | 15/23 | - |
3-184070588-C-G | CLCN2 | c.2154G>C | p.E718D | Missense | 19/24 | - |
3-184070588-C-A | CLCN2 | c.2154G>T | p.E718D | Missense | 19/24 | - |
19-39322087-T-G | ECH1 | c.122A>C | p.E41A | Missense | 2/10 | - |
19-49994740-C-A | RPL13A | c.461C>A | p.A154D | Missense | 7/8 | - |
X-151093082-G-A | MAGEA4 | c.946G>A | p.G316R | Missense | 3/3 | - |
X-151093082-G-C | MAGEA4 | c.946G>C | p.G316R | Missense | 3/3 | - |
13-23904298-T-G | SACS | c.13717A>C | p.N4573H | Missense | 10/10 | - |
20-2398064-G-A | TGM6 | c.1523G>A | p.G508D | Missense | 10/13 | - |
10-118661351-G-A | SHTN1 | c.1598C>T | p.P533L | Missense | 16/17 | - |
19-39218649-G-A | ACTN4 | c.2401G>A | p.V801M | Missense | 19/21 | - |
3-180359790-T-C | CCDC39 | c.1865A>G | p.E622G | Missense | 13/20 | - |
22-19263214-G-A | CLTCL1 | c.182C>T | p.P61L | Missense | 2/33 | - |
18-18564483-G-C | ROCK1 | c.2318C>G | p.T773S | Missense | 20/33 | - |
17-5085637-G-A | ZNF594 | c.1915C>T | p.L639F | Missense | 2/2 | - |
1-205892259-C-T | SLC26A9 | c.1724G>A | p.R575Q | Missense | 16/21 | - |
22-37581383-C-T | C1QTNF6 | c.164G>A | p.G55D | Missense | 2/3 | - |
9-71835842-C-A | TJP2 | c.382C>A | p.Q128K | Missense | 5/23 | - |
9-71851877-G-A | TJP2 | c.2004G>A | p.M668I | Missense | 14/23 | - |
3-63645410-A-G | SNTN | c.155A>G | p.K52R | Missense | 3/4 | - |
1-156035717-A-G | RAB25 | c.59A>G | p.E20G | Missense | 2/5 | - |
6-36393816-A-G | PXT1 | c.44T>C | p.V15A | Missense | 3/5 | - |
12-120954490-C-T | COQ5 | c.454G>A | p.A152T | Missense | 3/7 | - |
1-201869257-G-A | LMOD1 | c.884C>T | p.T295M | Missense | 2/3 | - |
10-101157438-G-C | GOT1 | c.1108C>G | p.Q370E | Missense | 9/9 | - |
8-145729727-C-A | GPT | c.40C>A | p.H14N | Missense | 1/11 | - |
6-26452211-C-T | BTN3A3 | c.1327C>T | p.R443W | Missense | 11/11 | - |
6-31603189-G-A | PRRC2A | c.5320G>A | p.V1774M | Missense | 23/31 | - |
14-52496387-C-A | NID2 | c.2279G>T | p.G760V | Missense | 10/22 | - |
2-170072887-G-C | LRP2 | c.5702C>G | p.A1901G | Missense | 35/79 | - |
10-5931230-C-T | ANKRD16 | c.88G>A | p.G30R | Missense | 1/8 | - |
15-34077949-G-A | RYR3 | c.9355G>A | p.E3119K | Missense | 66/104 | - |
19-17749893-G-A | UNC13A | c.3080C>T | p.P1027L | Missense | 25/44 | - |
15-45695382-G-A | SPATA5L1 | c.755G>A | p.R252Q | Missense | 1/8 | - |
6-36922684-A-C | PI16 | c.148A>C | p.T50P | Missense | 1/7 | - |
1-226923938-A-C | ITPKB | c.1222T>G | p.S408A | Missense | 2/8 | - |
4-95506837-A-G | PDLIM5 | c.832A>G | p.T278A | Missense | 6/13 | - |
12-50727811-C-T | FAM186A | c.6579G>A | p.M2193I | Missense | 5/8 | - |
10-70748784-G-A | KIFBP | c.196G>A | p.G66S | Missense | 1/7 | - |
13-25823441-C-T | MTMR6 | c.1795G>A | p.A599T | Missense | 14/14 | - |
6-31936679-C-T | SKIV2L | c.3212C>T | p.A1071V | Missense | 26/28 | - |
10-91065949-A-C | IFIT2 | c.236A>C | p.E79A | Missense | 2/2 | - |
22-29885016-G-A | NEFH | c.1387G>A | p.E463K | Missense | 4/4 | - |
22-45749966-G-C | SMC1B | c.3165C>G | p.F1055L | Missense | 21/25 | - |
3-9986249-A-G | CRELD1 | c.1249A>G | p.I417V | Missense | 11/11 | - |
11-102248377-C-T | BIRC2 | c.1517C>T | p.A506V | Missense | 7/9 | - |
9-117846580-T-C | TNC | c.2039A>G | p.Q680R | Missense | 4/28 | - |
16-78149000-C-T | WWOX | c.358C>T | p.R120W | Missense | 4/9 | - |
1-159856388-C-T | CFAP45 | c.680G>A | p.R227Q | Missense | 6/12 | - |
15-62243197-T-C | VPS13C | c.4483A>G | p.I1495V | Missense | 40/85 | - |
12-121622115-C-T | P2RX7 | c.1298C>T | p.A433V | Missense | 13/13 | - |
6-24476431-T-C | GPLD1 | c.308A>G | p.N103S | Missense | 4/25 | - |
16-65022234-C-T | CDH11 | c.825G>A | p.M275I | Missense | 7/13 | - |
16-1254271-G-A | CACNA1H | c.2264G>A | p.G755D | Missense | 10/35 | - |
17-80041173-G-A | FASN | c.5470C>T | p.R1824W | Missense | 32/43 | - |
6-30041009-A-G | RNF39 | c.403T>C | p.S135P | missense_variant | 3/4 | - |
1-89582690-G-C | GBP2 | c.853C>G | p.P285A | Missense | 6/11 | - |
20-1433259-G-A | NSFL1C | c.664C>T | p.L222F | Missense | 7/9 | - |
1-22310807-A-G | CELA3B | c.625A>G | p.I209V | Missense | 6/8 | - |
3-49462410-T-C | NICN1 | c.572A>G | p.H191R | Missense | 5/6 | - |
2-242610172-A-G | ATG4B | c.989A>G | p.N330S | Missense | 11/13 | - |
9-90322023-G-A | DAPK1 | c.4037G>A | p.S1346N | Missense | 26/26 | - |
19-50713713-C-A | MYH14 | c.91C>A | p.P31T | Missense | 2/43 | - |
3-45588912-G-A | LARS2 | c.2602G>A | p.E868K | Missense | 22/22 | - |
9-117840255-A-C | TNC | c.2641T>G | p.S881A | Missense | 7/28 | - |
16-31286964-T-A | ITGAM | c.953T>A | p.F318Y | Missense | 9/30 | - |
4-94750491-C-G | ATOH1 | c.414C>G | p.D138E | Missense | 1/1 | - |
4-94750491-C-A | ATOH1 | c.414C>A | p.D138E | Missense | 1/1 | - |
18-57000469-T-A | LMAN1 | c.1228A>T | p.M410L | Missense | 11/13 | - |
12-52886911-T-C | KRT6A | c.62A>G | p.N21S | Missense | 1/9 | - |
4-3526645-C-T | LRPAP1 | c.338G>A | p.R113H | Missense | 2/8 | - |
7-12269416-A-T | TMEM106B | c.553A>T | p.T185S | Missense | 5/8 | - |
1-75038228-A-C | ERICH3 | c.3166T>G | p.L1056V | Missense | 14/15 | - |
5-32263316-C-T | MTMR12 | c.616G>A | p.D206N | Missense | 7/16 | - |
2-153405580-C-G | FMNL2 | c.328C>G | p.L110V | Missense | 4/26 | - |
4-184612553-G-C | TRAPPC11 | c.1978G>C | p.V660L | Missense | 19/30 | - |
6-656555-G-T | HUS1B | c.390C>A | p.H130Q | Missense | 1/1 | - |
6-656555-G-C | HUS1B | c.390C>G | p.H130Q | Missense | 1/1 | - |
4-85525421-G-C | CDS1 | c.143G>C | p.G48A | Missense | 2/13 | - |
8-95143172-T-G | CDH17 | c.2216A>C | p.E739A | Missense | 16/18 | - |
9-19058921-G-A | HAUS6 | c.1844C>T | p.A615V | Missense | 16/17 | - |
10-35897304-C-T | GJD4 | c.863C>T | p.T288M | Missense | 2/2 | - |
X-129546713-G-A | RBMX2 | c.860G>A | p.R287H | Missense | 6/6 | - |
2-233498506-C-T | EFHD1 | c.92C>T | p.A31V | Missense | 1/4 | - |
7-86468254-G-A | GRM3 | c.1424G>A | p.G475D | Missense | 4/6 | - |
1-32145693-C-T | COL16A1 | c.2620G>A | p.G874R | Missense | 40/71 | - |
3-65342433-A-C | MAGI1 | c.4009T>G | p.L1337V | Missense | 23/23 | - |
3-142402975-T-C | PLS1 | c.707T>C | p.V236A | Missense | 7/16 | - |
3-148597612-C-T | CPA3 | c.512C>T | p.T171M | Missense | 6/11 | - |
1-33777674-A-C | A3GALT2 | c.314T>G | p.L105R | Missense | 4/5 | - |
16-46755060-T-C | MYLK3 | c.1960A>G | p.I654V | Missense | 9/13 | - |
17-79671332-T-C | MRPL12 | c.133T>C | p.C45R | Missense | 2/5 | - |
22-32914231-C-T | SYN3 | c.1409G>A | p.S470N | Missense | 13/14 | - |
19-44117961-C-T | SRRM5 | c.1688C>T | p.P563L | Missense | 1/1 | - |
19-22846652-A-C | ZNF492 | c.181A>C | p.N61H | Missense | 4/4 | - |
2-166747445-G-C | TTC21B | c.3004C>G | p.L1002V | Missense | 23/29 | - |
6-152671448-G-A | SYNE1 | c.11756C>T | p.A3919V | Missense | 72/146 | - |
5-73992881-A-G | HEXB | c.619A>G | p.I207V | Missense | 5/14 | - |
1-152957832-C-A | SPRR1A | c.126C>A | p.H42Q | Missense | 2/2 | - |
1-152957832-C-G | SPRR1A | c.126C>G | p.H42Q | Missense | 2/2 | - |
1-152957887-G-A | SPRR1A | c.181G>A | p.V61I | Missense | 2/2 | - |
1-153431406-C-A | S100A7 | c.84G>T | p.E28D | Missense | 2/3 | - |
1-153926078-T-C | CRTC2 | c.439A>G | p.M147V | Missense | 5/14 | - |
1-158612236-A-G | SPTA1 | c.4702T>C | p.C1568R | Missense | 33/52 | - |
1-204199614-C-T | PLEKHA6 | c.2510G>A | p.R837K | Missense | 18/23 | - |
1-223567803-G-A | CCDC185 | c.986G>A | p.G329D | Missense | 1/1 | - |
1-23419374-G-T | LUZP1 | c.1381C>A | p.Q461K | Missense | 4/5 | - |
1-23419383-C-T | LUZP1 | c.1372G>A | p.G458S | Missense | 4/5 | - |
1-24419496-A-G | MYOM3 | c.1031T>C | p.M344T | Missense | 10/37 | - |
1-247752367-A-G | OR2G2 | c.706A>G | p.R236G | Missense | 1/1 | - |
1-35260202-G-A | GJA4 | c.388G>A | p.V130I | Missense | 2/2 | - |
1-6531589-C-T | PLEKHG5 | c.1240G>A | p.A414T | Missense | 12/21 | - |
10-117075175-G-A | ATRNL1 | c.2966G>A | p.S989N | Missense | 18/29 | - |
10-30316208-T-C | JCAD | c.2869A>G | p.R957G | Missense | 3/4 | - |
10-61831271-T-C | ANK3 | c.9368A>G | p.K3123R | Missense | 37/44 | - |
10-7618686-T-G | ITIH5 | c.1708A>C | p.T570P | Missense | 10/15 | - |
11-124006993-G-A | VWA5A | c.1517G>A | p.R506K | Missense | 13/19 | - |
11-18267027-C-T | SAA2 | c.266G>A | p.R89H | Missense | 4/4 | - |
11-5443887-T-C | OR51Q1 | c.457T>C | p.C153R | Missense | 1/1 | - |
11-6789929-C-A | OR2AG2 | c.260G>T | p.R87L | Missense | 2/2 | - |
11-6807163-C-G | OR2AG1 | c.895C>G | p.R299G | Missense | 2/2 | - |
12-122817580-A-G | CLIP1 | c.2821T>C | p.S941P | Missense | 15/26 | - |
12-133306589-C-T | ANKLE2 | c.2159G>A | p.R720H | Missense | 11/13 | - |
12-32137565-G-A | RESF1 | c.3676G>A | p.V1226I | Missense | 4/6 | - |
12-48723324-C-G | H1-7 | c.250C>G | p.R84G | Missense | 1/1 | - |
12-52981442-C-A | KRT72 | c.1283G>T | p.R428L | Missense | 7/9 | - |
12-58025813-G-C | B4GALNT1 | c.103C>G | p.L35V | Missense | 2/11 | - |
13-41382711-A-C | SLC25A15 | c.760A>C | p.I254L | Missense | 6/7 | - |
13-41382711-A-T | SLC25A15 | c.760A>T | p.I254L | Missense | 6/7 | - |
13-50306528-T-C | KPNA3 | c.362A>G | p.K121R | Missense | 6/17 | - |
15-42568547-C-G | GANC | c.31C>G | p.L11V | Missense | 2/24 | - |
15-55652719-A-G | CCPG1 | c.1252T>C | p.Y418H | Missense | 8/9 | - |
15-57731728-A-G | CGNL1 | c.1531A>G | p.T511A | Missense | 2/19 | - |
15-72432583-A-G | SENP8 | c.619A>G | p.T207A | Missense | 2/2 | - |
15-90213229-G-C | PLIN1 | c.580C>G | p.P194A | Missense | 5/9 | - |
16-12060163-A-G | TNFRSF17 | c.242A>G | p.N81S | Missense | 2/3 | - |
16-29791575-C-G | ZG16 | c.339C>G | p.D113E | Missense | 4/4 | - |
16-29791575-C-A | ZG16 | c.339C>A | p.D113E | Missense | 4/4 | - |
16-4945687-G-T | PPL | c.1003C>A | p.L335M | Missense | 10/22 | - |
16-84209738-T-C | DNAAF1 | c.1898T>C | p.L633S | Missense | 11/12 | - |
17-10222462-G-A | MYH13 | c.3383C>T | p.A1128V | Missense | 27/41 | - |
17-1686410-T-C | SMYD4 | c.2180A>G | p.Y727C | Missense | 10/11 | - |
17-21318782-G-A | KCNJ12 | c.128G>A | p.R43H | Missense | 3/3 | - |
17-42992542-G-A | GFAP | c.313C>T | p.R105W | Missense | 1/9 | - |
19-40368395-C-T | FCGBP | c.12953G>A | p.R4318H | Missense | 28/36 | - |
19-53344919-T-G | ZNF468 | c.628A>C | p.M210L | Missense | 4/4 | - |
19-53344919-T-A | ZNF468 | c.628A>T | p.M210L | Missense | 4/4 | - |
2-103149100-G-A | SLC9A4 | c.2350G>A | p.G784S | Missense | 12/12 | - |
2-157406249-G-A | GPD2 | c.791G>A | p.R264H | Missense | 7/17 | - |
2-228883721-T-C | SPHKAP | c.1849A>G | p.K617E | Missense | 7/12 | - |
2-239039312-C-T | ESPNL | c.1957C>T | p.R653W | Missense | 9/9 | - |
2-27167617-G-A | DPYSL5 | c.1534G>A | p.A512T | Missense | 12/13 | - |
2-99812070-G-A | MRPL30 | c.388G>A | p.A130T | Missense | 6/6 | - |
20-47273726-C-T | PREX1 | c.1975G>A | p.V659M | Missense | 18/40 | - |
20-5903517-A-G | CHGB | c.727A>G | p.T243A | Missense | 4/5 | - |
20-60887581-G-A | LAMA5 | c.9235C>T | p.R3079W | Missense | 68/80 | - |
22-24038847-T-C | RGL4 | c.1133T>C | p.V378A | Missense | 7/11 | - |
22-26854441-G-A | HPS4 | c.1816C>T | p.H606Y | Missense | 12/14 | - |
22-26862212-T-C | HPS4 | c.686A>G | p.E229G | Missense | 9/14 | - |
3-118866376-C-T | TEX55 | c.1340C>T | p.S447L | Missense | 1/3 | - |
3-136574501-A-G | SLC35G2 | c.1199A>G | p.K400R | Missense | 2/2 | - |
3-145917761-T-C | PLSCR4 | c.463A>G | p.I155V | Missense | 6/9 | - |
3-391100-A-G | CHL1 | c.907A>G | p.T303A | Missense | 10/28 | - |
3-52554304-G-C | STAB1 | c.5497G>C | p.A1833P | Missense | 52/69 | - |
4-186111639-T-C | CFAP97 | c.712A>G | p.T238A | Missense | 2/5 | - |
4-186379899-G-C | CCDC110 | c.1842C>G | p.I614M | Missense | 6/7 | - |
4-187630597-C-G | FAT1 | c.385G>C | p.V129L | Missense | 2/27 | - |
4-187630597-C-A | FAT1 | c.385G>T | p.V129L | Missense | 2/27 | - |
4-7716932-T-C | SORCS2 | c.2146T>C | p.S716P | Missense | 17/27 | - |
4-87809020-C-G | C4orf36 | c.247G>C | p.V83L | Missense | 4/5 | - |
4-87809020-C-A | C4orf36 | c.247G>T | p.V83L | Missense | 4/5 | - |
4-90169925-A-G | GPRIN3 | c.1337T>C | p.V446A | Missense | 2/2 | - |
5-1467004-A-G | LPCAT1 | c.1280T>C | p.M427T | Missense | 13/14 | - |
5-149006640-C-T | ARHGEF37 | c.1466C>T | p.P489L | Missense | 11/13 | - |
5-149374932-T-C | TIGD6 | c.980A>G | p.Q327R | Missense | 2/2 | - |
13-111213794-A-G | RAB20 | c.73T>C | p.Y25H | Missense | 1/2 | - |
1-151735576-T-C | MRPL9 | c.200A>G | p.E67G | Missense | 2/7 | - |
1-236141174-T-C | NID1 | c.3737A>G | p.Q1246R | Missense | 20/20 | - |
16-15820863-C-T | MYH11 | c.3700G>A | p.A1234T | Missense | 28/41 | - |
17-38122686-G-A | GSDMA | c.388G>A | p.E130K | Missense | 3/12 | - |
17-6406883-C-T | PITPNM3 | c.238G>A | p.A80T | Missense | 4/20 | - |
2-38604351-A-T | ATL2 | c.52T>A | p.W18R | Missense | 1/13 | - |
7-129938598-G-T | CPA4 | c.81G>T | p.L27F | Missense | 2/11 | - |
7-129938598-G-C | CPA4 | c.81G>C | p.L27F | Missense | 2/11 | - |
5-82837631-G-T | VCAN | c.8809G>T | p.D2937Y | Missense | 8/15 | - |
6-105776866-A-C | PREP | c.1051T>G | p.L351V | Missense | 9/15 | - |
6-34498328-C-T | PACSIN1 | c.1001C>T | p.A334V | Missense | 8/10 | - |
6-51483961-T-C | PKHD1 | c.12143A>G | p.Q4048R | Missense | 67/67 | - |
6-96651740-A-G | FUT9 | c.709A>G | p.T237A | Missense | 3/3 | - |
6-99825348-T-C | COQ3 | c.400A>G | p.K134E | Missense | 4/7 | - |
7-102098010-G-A | ALKBH4 | c.740C>T | p.A247V | Missense | 3/3 | - |
7-11581121-T-C | THSD7A | c.1747A>G | p.N583D | Missense | 6/28 | - |
7-138764233-C-T | ZC3HAV1 | c.1454G>A | p.R485K | Missense | 4/13 | - |
7-45122464-A-C | NACAD | c.3315T>G | p.D1105E | Missense | 2/8 | - |
7-45122464-A-T | NACAD | c.3315T>A | p.D1105E | Missense | 2/8 | - |
7-45124465-A-C | NACAD | c.1314T>G | p.D438E | Missense | 2/8 | - |
7-45124465-A-T | NACAD | c.1314T>A | p.D438E | Missense | 2/8 | - |
7-51097063-T-G | COBL | c.1730A>C | p.D577A | Missense | 10/13 | - |
7-82764425-C-G | PCLO | c.2441G>C | p.S814T | Missense | 3/25 | - |
7-89854446-T-G | STEAP2 | c.50T>G | p.F17C | Missense | 3/6 | - |
7-91630620-G-C | AKAP9 | c.1389G>C | p.M463I | Missense | 8/50 | - |
7-91630620-G-A | AKAP9 | c.1389G>A | p.M463I | Missense | 8/50 | - |
7-92734983-A-G | SAMD9 | c.428T>C | p.I143T | Missense | 3/3 | - |
8-11995062-G-A | USP17L2 | c.1208C>T | p.A403V | Missense | 1/1 | - |
8-133053309-T-C | OC90 | c.439A>G | p.S147G | Missense | 6/14 | - |
8-139165289-T-C | FAM135B | c.1429A>G | p.I477V | Missense | 13/20 | - |
8-74893821-A-G | TMEM70 | c.748A>G | p.T250A | Missense | 3/3 | - |
8-86351997-G-A | CA3 | c.91G>A | p.V31I | Missense | 2/7 | - |
8-8860620-T-C | ERI1 | c.47T>C | p.L16P | Missense | 1/7 | - |
9-139616742-A-G | DIPK1B | c.472A>G | p.S158G | Missense | 4/5 | - |
9-139973820-C-T | UAP1L1 | c.956C>T | p.A319V | Missense | 5/9 | - |
9-35870001-T-C | OR13J1 | c.398A>G | p.H133R | Missense | 1/1 | - |
9-71843023-C-G | TJP2 | c.1446C>G | p.D482E | Missense | 9/23 | - |
9-79318998-A-G | PRUNE2 | c.7531T>C | p.S2511P | Missense | 9/19 | - |
16-20554458-C-T | ACSM2B | c.1408G>A | p.G470R | Missense | 11/14 | - |
5-54439466-G-A | CDC20B | c.361C>T | p.R121C | Missense | 4/12 | - |
16-20554458-C-G | ACSM2B | c.1408G>C | p.G470R | Missense | 11/14 | - |
1-151337703-C-T | SELENBP1 | c.1099G>A | p.E367K | Missense | 10/12 | - |
9-131341997-T-G | SPTAN1 | c.1303T>G | p.S435A | Missense | 10/57 | - |
1-36552585-C-T | TEKT2 | c.686C>T | p.A229V | Missense | 6/10 | - |
14-21467909-C-T | SLC39A2 | c.124C>T | p.R42W | Missense | 2/4 | - |
11-66333800-G-C | CTSF | c.683C>G | p.T228R | Missense | 5/13 | - |
7-100883449-C-T | FIS1 | c.335G>A | p.R112Q | Missense | 4/5 | - |
22-43280404-G-T | PACSIN2 | c.773C>A | p.S258Y | Missense | 6/11 | - |
5-143586755-G-A | KCTD16 | c.478G>A | p.D160N | Missense | 3/4 | - |
4-88344154-C-A | NUDT9 | c.97C>A | p.Q33K | Missense | 1/8 | - |
1-16459836-A-G | EPHA2 | c.1892T>C | p.M631T | Missense | 11/17 | - |
8-144557681-C-T | ZC3H3 | c.1790G>A | p.R597Q | Missense | 5/12 | - |
1-76378502-G-A | MSH4 | c.2741G>A | p.S914N | Missense | 20/20 | - |
19-51170706-A-G | SHANK1 | c.4511T>C | p.V1504A | Missense | 23/24 | - |
19-51172526-G-C | SHANK1 | c.2691C>G | p.D897E | Missense | 23/24 | - |
21-44317156-A-C | NDUFV3 | c.168A>C | p.K56N | Missense | 2/4 | - |
1-160011280-C-T | KCNJ10 | c.1043G>A | p.R348H | Missense | 2/2 | - |
6-151914299-G-A | CCDC170 | c.1351G>A | p.E451K | Missense | 8/11 | - |
3-32860125-G-T | TRIM71 | c.553G>T | p.A185S | Missense | 1/4 | - |
18-5419723-C-T | EPB41L3 | c.1493G>A | p.R498Q | Missense | 12/23 | - |
16-15814883-C-T | MYH11 | c.4604G>A | p.R1535Q | Missense | 33/41 | - |
1-149762961-T-C | FCGR1A | c.1013T>C | p.I338T | Missense | 6/6 | - |
3-124449406-A-G | UMPS | c.88A>G | p.S30G | Missense | 1/6 | - |
9-140638534-G-A | EHMT1 | c.1162G>A | p.A388T | Missense | 6/27 | - |
14-75360066-C-T | DLST | c.611C>T | p.P204L | Missense | 9/15 | - |
16-2263836-C-G | PGP | c.859G>C | p.G287R | Missense | 2/2 | - |
19-14584366-T-C | PTGER1 | c.767A>G | p.H256R | Missense | 2/3 | - |
8-17820758-G-T | PCM1 | c.2612G>T | p.G871V | Missense | 17/39 | - |
19-40408821-C-G | FCGBP | c.4018G>C | p.V1340L | Missense | 8/36 | - |
16-2263836-C-T | PGP | c.859G>A | p.G287R | Missense | 2/2 | - |
7-21640361-T-C | DNAH11 | c.3068T>C | p.V1023A | Missense | 16/82 | - |
12-57578673-G-A | LRP1 | c.6238G>A | p.D2080N | Missense | 39/89 | - |
11-33079580-A-G | TCP11L1 | c.533A>G | p.K178R | Missense | 5/10 | - |
20-5903388-A-C | CHGB | c.598A>C | p.N200H | Missense | 4/5 | - |
2-29383256-G-T | CLIP4 | c.1457G>T | p.R486L | Missense | 12/16 | - |
6-168459845-G-C | FRMD1 | c.1366C>G | p.Q456E | Missense | 10/11 | - |
2-219526649-G-A | BCS1L | c.628G>A | p.D210N | Missense | 4/8 | - |
X-153589848-G-A | FLNA | c.3035C>T | p.S1012L | Missense | 21/48 | - |
19-50905310-G-A | POLD1 | c.518G>A | p.S173N | Missense | 5/27 | - |
19-14038791-C-T | CC2D1A | c.2402C>T | p.T801M | Missense | 23/29 | - |
2-170493863-A-G | PPIG | c.2095A>G | p.N699D | Missense | 14/14 | - |
5-70900270-T-A | MCCC2 | c.599T>A | p.I200N | Missense | 6/17 | - |
2-29295284-A-T | C2orf71 | c.1844T>A | p.V615D | Missense | 1/2 | - |
15-43816513-G-A | MAP1A | c.2842G>A | p.V948I | Missense | 4/6 | - |
8-103663914-T-C | KLF10 | c.646A>G | p.T216A | Missense | 3/4 | - |
19-15272218-G-A | NOTCH3 | c.6221C>T | p.P2074L | Missense | 33/33 | - |
12-48526712-G-A | PFKM | c.299G>A | p.R100Q | Missense | 5/23 | - |
16-3708170-C-T | TRAP1 | c.2075G>A | p.R692H | Missense | 18/18 | - |
17-5461672-T-A | NLRP1 | c.2344A>T | p.T782S | Missense | 4/17 | - |
3-124462824-A-G | UMPS | c.1336A>G | p.I446V | Missense | 6/6 | - |
16-3727629-C-T | TRAP1 | c.574G>A | p.E192K | Missense | 6/18 | - |
16-21976762-G-A | UQCRC2 | c.548G>A | p.R183Q | Missense | 7/14 | - |
16-71318001-G-T | CMTR2 | c.1823C>A | p.T608K | Missense | 3/3 | - |
4-111398208-A-G | ENPEP | c.638A>G | p.Q213R | Missense | 1/20 | - |
11-108277861-C-T | C11orf65 | c.190G>A | p.A64T | Missense | 4/9 | - |
7-150269542-G-T | GIMAP4 | c.384G>T | p.E128D | Missense | 3/3 | - |
17-42750898-A-T | MEIOC | c.2622A>T | p.R874S | Missense | 7/8 | - |
4-17640880-C-G | FAM184B | c.2659G>C | p.E887Q | Missense | 14/18 | - |
1-229631734-T-C | NUP133 | c.880A>G | p.I294V | Missense | 7/26 | - |
X-119580269-A-C | LAMP2 | c.755T>G | p.I252S | Missense | 6/9 | - |
3-7494417-A-T | GRM7 | c.1298A>T | p.Y433F | Missense | 6/10 | - |
14-74970041-A-G | LTBP2 | c.4769T>C | p.V1590A | Missense | 33/36 | - |
12-113376480-G-A | OAS3 | c.145G>A | p.A49T | Missense | 1/16 | - |
X-48838048-T-G | GRIPAP1 | c.1733A>C | p.E578A | Missense | 19/26 | - |
1-209796950-A-C | LAMB3 | c.2258T>G | p.V753G | Missense | 16/23 | - |
20-5904289-G-A | CHGB | c.1499G>A | p.R500K | Missense | 4/5 | - |
19-1397443-G-A | GAMT | c.626C>T | p.T209M | Missense | 6/6 | - |
20-5966763-A-G | MCM8 | c.2149A>G | p.I717V | Missense | 16/19 | - |
1-11710561-T-G | FBXO2 | c.353A>C | p.K118T | Missense | 2/6 | - |
1-11710060-T-C | FBXO2 | c.463A>G | p.S155G | Missense | 3/6 | - |
20-36869769-C-T | KIAA1755 | c.764G>A | p.R255Q | Missense | 3/14 | - |
12-113321161-G-T | RPH3A | c.1390G>T | p.V464L | Missense | 16/22 | - |
1-110709720-G-A | SLC6A17 | c.169G>A | p.A57T | Missense | 2/12 | - |
1-949608-G-A | ISG15 | c.248G>A | p.S83N | Missense | 2/2 | - |
5-43613046-A-G | NNT | c.188A>G | p.K63R | Missense | 3/22 | - |
9-124072992-G-A | GSN | c.382G>A | p.V128M | Missense | 5/18 | - |
1-26504066-G-A | CNKSR1 | c.28G>A | p.G10R | Missense | 1/21 | - |
2-69723170-G-C | AAK1 | c.2312C>G | p.P771R | Missense | 17/22 | - |
4-166416765-C-T | CPE | c.1268C>T | p.A423V | Missense | 8/9 | - |
1-63999868-T-C | EFCAB7 | c.785T>C | p.M262T | Missense | 6/14 | - |
2-109088343-A-G | GCC2 | c.2558A>G | p.E853G | Missense | 6/23 | - |
4-104012365-A-G | BDH2 | c.326T>C | p.M109T | Missense | 5/10 | - |
10-26518671-G-A | GAD2 | c.805G>A | p.A269T | Missense | 7/16 | - |
1-156507025-C-T | IQGAP3 | c.3370G>A | p.A1124T | Missense | 27/38 | - |
10-135044009-G-A | UTF1 | c.217G>A | p.G73R | Missense | 1/2 | - |
6-36976637-G-T | FGD2 | c.96G>T | p.Q32H | Missense | 2/16 | - |
6-36976637-G-C | FGD2 | c.96G>C | p.Q32H | Missense | 2/16 | - |
10-135044009-G-C | UTF1 | c.217G>C | p.G73R | Missense | 1/2 | - |
14-68035879-A-G | PLEKHH1 | c.1288A>G | p.T430A | Missense | 8/29 | - |
15-40259848-A-C | EIF2AK4 | c.1321A>C | p.I441L | Missense | 9/39 | - |
2-70037739-C-G | ANXA4 | c.411C>G | p.S137R | Missense | 7/13 | - |
2-70037739-C-A | ANXA4 | c.411C>A | p.S137R | Missense | 7/13 | - |
2-70037737-A-C | ANXA4 | c.409A>C | p.S137R | Missense | 7/13 | - |
19-13409407-C-T | CACNA1A | c.3040G>A | p.E1014K | Missense | 19/47 | - |
1-36886117-C-G | OSCP1 | c.919G>C | p.G307R | Missense | 8/10 | - |
1-110466555-G-C | CSF1 | c.1312G>C | p.G438R | Missense | 6/9 | - |
1-152732567-G-A | KPRP | c.503G>A | p.R168H | Missense | 2/2 | - |
3-193036783-G-A | ATP13A5 | c.2030C>T | p.A677V | Missense | 17/30 | - |
6-74079464-C-T | OOEP | c.52G>A | p.A18T | Missense | 1/3 | - |
10-15256194-G-A | FAM171A1 | c.1393C>T | p.P465S | Missense | 8/8 | - |
11-1972143-G-A | MRPL23 | c.32G>A | p.R11Q | Missense | 2/5 | - |
16-84158248-G-C | HSDL1 | c.980C>G | p.S327C | Missense | 6/6 | - |
17-8701799-G-T | MFSD6L | c.640C>A | p.P214T | Missense | 1/1 | - |
17-78449948-C-T | NPTX1 | c.299G>A | p.G100D | Missense | 1/5 | - |
18-43497710-A-G | EPG5 | c.3173T>C | p.V1058A | Missense | 17/44 | - |
19-2278755-C-T | PEAK3 | c.440G>A | p.R147H | Missense | 3/4 | - |
4-71471905-G-A | AMBN | c.802G>A | p.G268R | Missense | 13/13 | - |
12-176139-A-T | IQSEC3 | c.91A>T | p.T31S | Missense | 1/14 | - |
11-65403651-C-A | PCNX3 | c.5466C>A | p.H1822Q | Missense | 33/35 | - |
14-68353784-G-T | RAD51B | c.619G>T | p.V207L | Missense | 7/11 | - |
4-3526642-T-C | LRPAP1 | c.341A>G | p.N114S | Missense | 2/8 | - |
15-33916136-G-A | RYR3 | c.2486G>A | p.R829H | Missense | 20/104 | - |
8-145114844-C-T | OPLAH | c.92G>A | p.R31Q | Missense | 2/28 | - |
5-180048641-G-A | FLT4 | c.1921C>T | p.P641S | Missense | 13/30 | - |
6-76640803-G-A | IMPG1 | c.2110C>T | p.R704W | Missense | 15/17 | - |
2-152506811-C-T | NEB | c.7310G>A | p.R2437Q | Missense | 54/182 | - |
13-77529644-A-G | ACOD1 | c.455A>G | p.N152S | Missense | 4/5 | - |
9-71851040-C-G | TJP2 | c.1877C>G | p.T626S | Missense | 13/23 | - |
9-71851039-A-T | TJP2 | c.1876A>T | p.T626S | Missense | 13/23 | - |
19-20808143-T-A | ZNF626 | c.540A>T | p.K180N | Missense | 4/4 | - |
19-20808143-T-G | ZNF626 | c.540A>C | p.K180N | Missense | 4/4 | - |
21-34038278-A-G | SYNJ1 | c.2237T>C | p.I707T | Missense | 17/33 | - |
10-120931928-C-A | PRDX3 | c.517G>T | p.G173C | Missense | 5/7 | - |
12-8376723-G-T | FAM90A1 | c.212C>A | p.P71Q | Missense | 5/7 | - |
9-115652255-G-C | SLC46A2 | c.707C>G | p.P236R | Missense | 1/4 | - |
2-163144694-T-C | IFIH1 | c.1046A>G | p.K349R | Missense | 5/16 | - |
4-77100807-T-C | SCARB2 | c.475A>G | p.M159V | Missense | 4/12 | - |
17-10541644-C-G | MYH3 | c.3445G>C | p.E1149Q | Missense | 27/41 | - |
X-23723711-C-G | ACOT9 | c.934G>C | p.E312Q | Missense | 13/16 | - |
X-49114808-C-A | FOXP3 | c.155G>T | p.G52V | Missense | 2/12 | - |
6-88125473-A-G | CFAP206 | c.353A>G | p.D118G | Missense | 5/13 | - |
16-2155426-T-C | PKD1 | c.7913A>G | p.H2638R | Missense | 21/46 | - |
19-35250660-G-A | ZNF599 | c.1046C>T | p.T349M | Missense | 4/4 | - |
11-619789-T-A | CDHR5 | c.1071A>T | p.R357S | Missense | 10/15 | - |
7-132193335-A-G | PLXNA4 | c.118T>C | p.F40L | Missense | 2/32 | - |
7-131883311-C-T | PLXNA4 | c.2671G>A | p.A891T | Missense | 13/32 | - |
19-41944237-T-C | ATP5SL | c.101A>G | p.N34S | Missense | 2/6 | - |
12-9751127-T-C | KLRB1 | c.382A>G | p.S128G | Missense | 4/6 | - |
5-70308262-C-T | NAIP | c.481G>A | p.A161T | Missense | 4/17 | - |
6-11103979-G-A | ERVFRD-1 | c.1565C>T | p.T522M | Missense | 2/2 | - |
10-105762909-C-G | SLK | c.1973C>G | p.A658G | Missense | 9/19 | - |
10-90673047-G-A | STAMBPL1 | c.610G>A | p.E204K | Missense | 6/11 | - |
18-745840-T-C | YES1 | c.592A>G | p.I198V | Missense | 6/12 | - |
8-145662005-G-C | TONSL | c.1950C>G | p.D650E | Missense | 16/26 | - |
10-104231098-G-A | MFSD13A | c.773G>A | p.R258Q | Missense | 6/10 | - |
X-153594535-G-A | FLNA | c.1286C>T | p.T429M | Missense | 9/48 | - |
2-168931636-C-T | STK39 | c.1195G>A | p.A399T | Missense | 11/18 | - |
X-48682972-A-G | HDAC6 | c.3598A>G | p.N1200D | Missense | 29/29 | - |
2-27887034-C-A | SLC4A1AP | c.415C>A | p.P139T | Missense | 1/14 | - |
2-68622914-G-A | PLEK | c.1019G>A | p.R340K | Missense | 9/9 | - |
2-191064753-C-T | C2orf88 | c.167C>T | p.T56I | Missense | 2/2 | - |
3-33458266-T-C | UBP1 | c.326A>G | p.N109S | Missense | 3/16 | - |
3-137796424-G-A | DZIP1L | c.1339C>T | p.R447C | Missense | 11/16 | - |
1-16534255-C-G | ARHGEF19 | c.712G>C | p.E238Q | Missense | 4/16 | - |
1-22165987-G-A | HSPG2 | c.9766C>T | p.H3256Y | Missense | 73/97 | - |
1-23418153-C-T | LUZP1 | c.2602G>A | p.D868N | Missense | 4/5 | - |
3-184801094-G-A | C3orf70 | c.454C>T | p.P152S | Missense | 2/2 | - |
3-186006618-G-C | DGKG | c.425C>G | p.T142S | Missense | 6/25 | - |
3-194061906-T-C | CPN2 | c.1526A>G | p.Q509R | Missense | 2/2 | - |
4-44682465-T-C | GUF1 | c.173T>C | p.L58P | Missense | 2/17 | - |
4-54011526-A-G | SCFD2 | c.1535T>C | p.L512S | Missense | 5/9 | - |
4-156273768-T-C | MAP9 | c.1801A>G | p.N601D | Missense | 13/14 | - |
5-149003627-C-T | ARHGEF37 | c.1388C>T | p.A463V | Missense | 10/13 | - |
5-176308303-C-T | HK3 | c.2627G>A | p.R876H | Missense | 18/19 | - |
1-42693597-A-G | FOXJ3 | c.485T>C | p.V162A | Missense | 5/13 | - |
6-85473758-C-T | TBX18 | c.142G>A | p.G48R | Missense | 1/8 | - |
8-74005131-A-G | SBSPON | c.172T>C | p.F58L | Missense | 1/5 | - |
8-110283256-T-C | NUDCD1 | c.1277A>G | p.N426S | Missense | 8/10 | - |
8-144808926-C-T | FAM83H | c.2705G>A | p.G902E | Missense | 5/5 | - |
9-102677589-T-C | STX17 | c.68T>C | p.I23T | Missense | 2/8 | - |
10-18266989-G-A | SLC39A12 | c.910G>A | p.V304I | Missense | 5/13 | - |
10-28260151-A-G | ODAD2 | c.1028T>C | p.I343T | Missense | 8/20 | - |
10-115644040-G-A | NHLRC2 | c.940G>A | p.V314I | Missense | 5/11 | - |
11-792692-G-C | SLC25A22 | c.448C>G | p.L150V | Missense | 7/10 | - |
12-234939-C-G | IQSEC3 | c.764C>G | p.A255G | Missense | 3/14 | - |
12-29659798-C-T | TMTC1 | c.2630G>A | p.R877Q | Missense | 18/18 | - |
12-53045626-T-C | KRT2 | c.301A>G | p.S101G | Missense | 1/9 | - |
12-53088484-C-T | KRT77 | c.1006G>A | p.D336N | Missense | 5/9 | - |
12-60173363-A-T | SLC16A7 | c.1340A>T | p.E447V | Missense | 6/6 | - |
12-64062052-G-A | DPY19L2 | c.122C>T | p.A41V | Missense | 1/22 | - |
12-113796566-A-C | PLBD2 | c.161A>C | p.Q54P | Missense | 1/12 | - |
12-123200977-A-C | HCAR3 | c.308T>G | p.V103G | Missense | 1/1 | - |
1-215848645-T-C | USH2A | c.12608A>G | p.Q4203R | Missense | 63/72 | - |
10-134736076-T-G | CFAP46 | c.1393A>C | p.I465L | Missense | 12/58 | - |
10-135051653-A-G | VENTX | c.235A>G | p.M79V | Missense | 1/3 | - |
10-70044031-T-C | PBLD | c.770A>G | p.H257R | Missense | 10/10 | - |
14-24424420-C-T | DHRS4 | c.305C>T | p.T102M | Missense | 2/8 | - |
16-4935505-T-C | PPL | c.3151A>G | p.K1051E | Missense | 22/22 | - |
3-122060404-C-T | CSTA | c.287C>T | p.T96M | Missense | 3/3 | - |
16-29706444-C-T | QPRT | c.473C>T | p.A158V | Missense | 2/4 | - |
9-115940942-C-T | FKBP15 | c.2054G>A | p.G685D | Missense | 20/28 | - |
X-125954826-C-A | PRR32 | c.205C>A | p.Q69K | Missense | 2/2 | - |
3-14199940-C-A | XPC | c.1443G>T | p.K481N | Missense | 9/16 | - |
9-127693601-G-T | GOLGA1 | c.220C>A | p.L74I | Missense | 4/23 | - |
1-196918738-C-T | CFHR2 | c.212C>T | p.T71M | Missense | 2/5 | - |
16-2815784-G-C | SRRM2 | c.5255G>C | p.R1752P | Missense | 11/15 | - |
16-3606938-C-A | NLRC3 | c.2157G>T | p.K719N | Missense | 8/21 | - |
14-20924167-G-T | APEX1 | c.153G>T | p.Q51H | Missense | 3/5 | - |
7-39610177-A-G | YAE1 | c.202A>G | p.K68E | Missense | 2/3 | - |
2-233127938-C-G | DIS3L2 | c.1447C>G | p.R483G | Missense | 13/21 | - |
3-81754732-A-G | GBE1 | c.176T>C | p.I59T | Missense | 2/16 | - |
1-165648710-G-A | ALDH9A1 | c.899C>T | p.A300V | Missense | 6/11 | - |
1-887799-C-T | NOC2L | c.1184G>A | p.R395H | Missense | 10/19 | - |
1-906300-G-A | PLEKHN1 | c.526G>A | p.A176T | Missense | 6/16 | - |
1-982302-C-A | AGRN | c.3353C>A | p.T1118K | Missense | 19/36 | - |
1-985378-G-A | AGRN | c.4840G>A | p.E1614K | Missense | 27/36 | - |
1-1290917-G-C | MXRA8 | c.289C>G | p.Q97E | Missense | 3/10 | - |
1-1387764-G-A | ATAD3C | c.172G>A | p.G58R | Missense | 3/12 | - |
1-1387764-G-C | ATAD3C | c.172G>C | p.G58R | Missense | 3/12 | - |
1-1452703-G-A | ATAD3A | c.295G>A | p.A99T | Missense | 3/16 | - |
1-2252937-C-T | MORN1 | c.1379G>A | p.R460Q | Missense | 14/14 | - |
1-3389995-T-G | ARHGEF16 | c.1214T>G | p.I405S | Missense | 8/15 | - |
1-3679886-C-T | CCDC27 | c.1169C>T | p.P390L | Missense | 7/12 | - |
1-3745924-G-A | CEP104 | c.2057C>T | p.A686V | Missense | 15/22 | - |
1-6046264-G-A | NPHP4 | c.86C>T | p.T29M | Missense | 2/30 | - |
1-6111765-G-A | KCNAB2 | c.169G>A | p.G57S | Missense | 2/16 | - |
1-6698390-C-T | DNAJC11 | c.1288G>A | p.D430N | Missense | 12/16 | - |
1-9165669-G-A | GPR157 | c.668C>T | p.A223V | Missense | 3/4 | - |
1-9775972-T-A | PIK3CD | c.436T>A | p.F146I | Missense | 5/24 | - |
1-9811653-C-T | CLSTN1 | c.527G>A | p.G176E | Missense | 5/19 | - |
1-10239569-C-G | UBE4B | c.3796C>G | p.P1266A | Missense | 27/28 | - |
1-11087272-T-A | MASP2 | c.1731A>T | p.Q577H | Missense | 11/11 | - |
1-11087272-T-G | MASP2 | c.1731A>C | p.Q577H | Missense | 11/11 | - |
1-12443209-C-T | VPS13D | c.11365C>T | p.L3789F | Missense | 58/70 | - |
1-15428057-G-C | KAZN | c.1566G>C | p.E522D | Missense | 11/15 | - |
1-15428057-G-T | KAZN | c.1566G>T | p.E522D | Missense | 11/15 | - |
1-15909850-C-T | AGMAT | c.313G>A | p.G105R | Missense | 2/7 | - |
1-16559044-C-A | CPLANE2 | c.488G>T | p.G163V | Missense | 4/5 | - |
1-17256695-G-A | CROCC | c.614G>A | p.R205Q | Missense | 5/37 | - |
1-17420146-C-T | PADI2 | c.445G>A | p.A149T | Missense | 5/16 | - |
1-17690206-C-A | PADI4 | c.1948C>A | p.R650S | Missense | 16/16 | - |
1-18152665-T-C | ACTL8 | c.752T>C | p.M251T | Missense | 3/3 | - |
1-18702848-C-T | IGSF21 | c.1060C>T | p.R354W | Missense | 7/10 | - |
1-19199448-G-T | ALDH4A1 | c.1583C>A | p.T528N | Missense | 15/15 | - |
1-19212007-G-A | ALDH4A1 | c.413C>T | p.P138L | Missense | 5/15 | - |
1-21926100-C-A | RAP1GAP | c.1663G>T | p.A555S | Missense | 21/25 | - |
1-22165963-T-C | HSPG2 | c.9790A>G | p.I3264V | Missense | 73/97 | - |
1-22191361-G-C | HSPG2 | c.4601C>G | p.P1534R | Missense | 36/97 | - |
1-22839498-A-G | ZBTB40 | c.2543A>G | p.N848S | Missense | 12/18 | - |
1-23845566-G-A | E2F2 | c.794C>T | p.T265I | Missense | 5/7 | - |
1-23857249-C-T | E2F2 | c.37G>A | p.G13R | Missense | 1/7 | - |
1-23857249-C-G | E2F2 | c.37G>C | p.G13R | Missense | 1/7 | - |
1-24978954-C-T | SRRM1 | c.755C>T | p.P252L | Missense | 7/17 | - |
1-25555551-C-T | SYF2 | c.196G>A | p.A66T | Missense | 3/7 | - |
1-26504066-G-C | CNKSR1 | c.28G>C | p.G10R | Missense | 1/21 | - |
1-27219196-C-T | GPATCH3 | c.1198G>A | p.E400K | Missense | 5/7 | - |
1-29602227-G-T | PTPRU | c.1412G>T | p.R471L | Missense | 8/30 | - |
1-31842320-T-C | FABP3 | c.158A>G | p.K53R | Missense | 2/4 | - |
1-32145693-C-G | COL16A1 | c.2620G>C | p.G874R | Missense | 40/71 | - |
1-32256433-C-T | SPOCD1 | c.3422G>A | p.R1141K | Missense | 16/16 | - |
1-32800320-C-T | MARCKSL1 | c.466G>A | p.A156T | Missense | 2/2 | - |
1-33292008-G-A | S100PBP | c.308G>A | p.S103N | Missense | 3/7 | - |
1-36226755-C-G | CLSPN | c.946G>C | p.D316H | Missense | 7/25 | - |
1-36557307-C-T | ADPRS | c.397C>T | p.R133C | Missense | 3/6 | - |
1-39957979-A-G | BMP8A | c.316A>G | p.M106V | Missense | 1/7 | - |
1-40703178-C-T | RLF | c.2804C>T | p.P935L | Missense | 8/8 | - |
1-43772818-G-A | TIE1 | c.646G>A | p.G216R | Missense | 5/23 | - |
1-43772818-G-C | TIE1 | c.646G>C | p.G216R | Missense | 5/23 | - |
1-44058233-G-A | PTPRF | c.1774G>A | p.V592I | Missense | 11/34 | - |
1-45980626-T-C | PRDX1 | c.302A>G | p.N101S | Missense | 4/6 | - |
1-46032307-G-A | AKR1A1 | c.151G>A | p.G51S | Missense | 3/9 | - |
1-47282754-T-A | CYP4B1 | c.1108T>A | p.C370S | Missense | 9/12 | - |
1-47765811-T-C | STIL | c.467A>G | p.H156R | Missense | 6/17 | - |
1-52851608-G-A | ORC1 | c.1397C>T | p.T466M | Missense | 9/17 | - |
1-62672415-C-T | L1TD1 | c.115C>T | p.P39S | Missense | 3/4 | - |
1-62739226-C-T | KANK4 | c.1550G>A | p.R517K | Missense | 3/10 | - |
1-62740264-T-C | KANK4 | c.512A>G | p.H171R | Missense | 3/10 | - |
1-64120039-G-A | PGM1 | c.1501G>A | p.V501I | Missense | 10/11 | - |
1-70819679-C-A | ANKRD13C | c.413G>T | p.G138V | Missense | 1/13 | - |
1-71536574-G-C | ZRANB2 | c.619C>G | p.R207G | Missense | 7/10 | - |
1-75188902-C-T | CRYZ | c.164G>A | p.R55H | Missense | 3/9 | - |
1-79358827-G-T | ADGRL4 | c.1797C>A | p.H599Q | Missense | 13/15 | - |
1-79358827-G-C | ADGRL4 | c.1797C>G | p.H599Q | Missense | 13/15 | - |
1-89322983-T-G | GTF2B | c.723A>C | p.E241D | Missense | 6/7 | - |
1-89322983-T-A | GTF2B | c.723A>T | p.E241D | Missense | 6/7 | - |
1-89652071-T-C | GBP4 | c.1652A>G | p.E551G | Missense | 10/11 | - |
1-100349757-A-G | AGL | c.2390A>G | p.N797S | Missense | 18/34 | - |
1-100361925-G-A | AGL | c.3343G>A | p.G1115R | Missense | 25/34 | - |
1-100361925-G-C | AGL | c.3343G>C | p.G1115R | Missense | 25/34 | - |
1-100681587-A-G | DBT | c.724T>C | p.S242P | Missense | 6/11 | - |
1-100964667-A-G | CDC14A | c.1604A>G | p.Q535R | Missense | 15/16 | - |
1-109779073-G-A | SARS1 | c.1160G>A | p.G387E | Missense | 9/11 | - |
1-109878903-C-G | SORT1 | c.1330G>C | p.E444Q | Missense | 11/20 | - |
1-110050180-C-T | AMIGO1 | c.1355G>A | p.G452D | Missense | 2/2 | - |
1-110257647-T-A | GSTM5 | c.439T>A | p.W147R | Missense | 6/8 | - |
1-110302450-C-G | EPS8L3 | c.105G>C | p.M35I | Missense | 4/19 | - |
1-110302450-C-T | EPS8L3 | c.105G>A | p.M35I | Missense | 4/19 | - |
1-110302450-C-A | EPS8L3 | c.105G>T | p.M35I | Missense | 4/19 | - |
1-113162494-G-A | CAPZA1 | c.28G>A | p.D10N | Missense | 1/10 | - |
1-117660820-C-T | TRIM45 | c.1058G>A | p.R353Q | Missense | 2/6 | - |
1-118165936-C-T | TENT5C | c.446C>T | p.T149I | Missense | 2/2 | - |
1-145562938-G-A | ANKRD35 | c.2626G>A | p.E876K | Missense | 10/14 | - |
1-145606361-T-C | POLR3C | c.592A>G | p.K198E | Missense | 5/16 | - |
1-150444432-C-T | RPRD2 | c.3008C>T | p.T1003I | Missense | 11/11 | - |
1-151015564-G-A | BNIPL | c.566G>A | p.R189H | Missense | 5/10 | - |
1-151491674-C-T | CGN | c.679C>T | p.R227W | Missense | 2/21 | - |
1-151502966-C-G | CGN | c.2315C>G | p.A772G | Missense | 13/21 | - |
1-151751274-C-G | TDRKH | c.770G>C | p.G257A | Missense | 6/13 | - |
1-151955753-G-C | S100A10 | c.180C>G | p.D60E | Missense | 3/3 | - |
1-151955753-G-T | S100A10 | c.180C>A | p.D60E | Missense | 3/3 | - |
1-152084531-G-C | TCHH | c.1162C>G | p.Q388E | Missense | 3/3 | - |
1-152084582-C-G | TCHH | c.1111G>C | p.E371Q | Missense | 3/3 | - |
1-152084984-C-G | TCHH | c.709G>C | p.V237L | Missense | 3/3 | - |
1-152084984-C-A | TCHH | c.709G>T | p.V237L | Missense | 3/3 | - |
1-152129087-T-C | RPTN | c.488A>G | p.K163R | Missense | 3/3 | - |
1-152331240-G-A | FLG2 | c.121C>T | p.L41F | Missense | 2/3 | - |
1-152883786-C-G | IVL | c.1513C>G | p.Q505E | Missense | 2/2 | - |
1-153390642-G-C | S100A7A | c.84G>C | p.E28D | Missense | 2/3 | - |
1-153390642-G-T | S100A7A | c.84G>T | p.E28D | Missense | 2/3 | - |
1-153580155-C-A | S100A16 | c.167G>T | p.R56L | Missense | 3/3 | - |
1-153591508-C-T | S100A13 | c.160G>A | p.G54S | Missense | 3/3 | - |
1-153652104-C-G | NPR1 | c.520C>G | p.R174G | Missense | 1/22 | - |
1-154541971-T-G | CHRNB2 | c.98T>G | p.V33G | Missense | 2/6 | - |
1-156563805-G-A | NAXE | c.796G>A | p.A266T | Missense | 6/6 | - |
1-156616814-C-G | BCAN | c.313C>G | p.R105G | Missense | 3/14 | - |
1-156628415-C-T | BCAN | c.2518C>T | p.L840F | Missense | 13/14 | - |
1-158612719-C-T | SPTA1 | c.4490G>A | p.G1497E | Missense | 32/52 | - |
1-158631144-C-G | SPTA1 | c.2520G>C | p.E840D | Missense | 18/52 | - |
1-158631144-C-A | SPTA1 | c.2520G>T | p.E840D | Missense | 18/52 | - |
1-158639328-C-T | SPTA1 | c.1703G>A | p.R568H | Missense | 14/52 | - |
1-159854251-T-C | CFAP45 | c.872A>G | p.E291G | Missense | 7/12 | - |
1-160090727-C-T | ATP1A2 | c.44C>T | p.T15M | Missense | 2/23 | - |
1-160607241-A-G | SLAMF1 | c.155T>C | p.I52T | Missense | 2/7 | - |
1-160654857-A-T | CD48 | c.205T>A | p.W69R | Missense | 2/4 | - |
1-160654857-A-G | CD48 | c.205T>C | p.W69R | Missense | 2/4 | - |
1-160811488-T-C | CD244 | c.265A>G | p.N89D | Missense | 2/9 | - |
1-161008424-G-A | TSTD1 | c.50C>T | p.A17V | Missense | 2/4 | - |
1-162367103-G-C | SH2D1B | c.366C>G | p.N122K | Missense | 4/4 | - |
1-162367103-G-T | SH2D1B | c.366C>A | p.N122K | Missense | 4/4 | - |
2-179590329-C-T | TTN | c.20602G>A | p.G6868R | Missense | 71/363 | - |
2-179590329-C-G | TTN | c.20602G>C | p.G6868R | Missense | 71/363 | - |
2-190660537-G-A | PMS1 | c.175G>A | p.E59K | Missense | 3/13 | - |
2-191110893-C-T | HIBCH | c.796G>A | p.D266N | Missense | 10/14 | - |
2-192701407-G-C | CAVIN2 | c.520C>G | p.Q174E | Missense | 2/2 | - |
2-197954676-G-A | ANKRD44 | c.1181C>T | p.S394L | Missense | 11/28 | - |
2-198359436-T-C | HSPD1 | c.551A>G | p.N184S | Missense | 5/12 | - |
2-198948717-A-G | PLCL1 | c.476A>G | p.D159G | Missense | 2/6 | - |
2-198949344-A-G | PLCL1 | c.1103A>G | p.Q368R | Missense | 2/6 | - |
2-200776353-T-G | C2orf69 | c.192T>G | p.D64E | Missense | 1/2 | - |
2-200776353-T-A | C2orf69 | c.192T>A | p.D64E | Missense | 1/2 | - |
2-202357196-A-G | C2CD6 | c.3868T>C | p.F1290L | Missense | 15/16 | - |
2-202357194-A-T | C2CD6 | c.3870T>A | p.F1290L | Missense | 15/16 | - |
2-202357194-A-C | C2CD6 | c.3870T>G | p.F1290L | Missense | 15/16 | - |
2-202400872-G-A | C2CD6 | c.1378C>T | p.P460S | Missense | 13/16 | - |
2-207026131-G-A | EEF1B2 | c.265G>A | p.G89R | Missense | 3/6 | - |
2-207026131-G-C | EEF1B2 | c.265G>C | p.G89R | Missense | 3/6 | - |
2-209035751-G-A | C2orf80 | c.491C>T | p.A164V | Missense | 8/9 | - |
2-211085464-A-G | ACADL | c.140T>C | p.I47T | Missense | 2/11 | - |
2-211085491-G-A | ACADL | c.113C>T | p.T38I | Missense | 2/11 | - |
2-211306138-T-G | LANCL1 | c.437A>C | p.H146P | Missense | 5/10 | - |
2-217012977-G-T | XRCC5 | c.1648G>T | p.A550S | Missense | 14/21 | - |
2-219528898-C-G | RNF25 | c.1162G>C | p.E388Q | Missense | 10/10 | - |
2-220313633-G-A | SPEG | c.1753G>A | p.G585S | Missense | 4/41 | - |
2-220404335-C-T | CHPF | c.2098G>A | p.E700K | Missense | 4/4 | - |
2-223505628-G-A | FARSB | c.292C>T | p.R98W | Missense | 4/17 | - |
2-224463129-T-C | SCG2 | c.872A>G | p.Q291R | Missense | 2/2 | - |
2-224463820-A-G | SCG2 | c.181T>C | p.Y61H | Missense | 2/2 | - |
2-224828547-G-T | MRPL44 | c.723G>T | p.L241F | Missense | 3/4 | - |
2-224828547-G-C | MRPL44 | c.723G>C | p.L241F | Missense | 3/4 | - |
2-228881941-G-T | SPHKAP | c.3629C>A | p.A1210D | Missense | 7/12 | - |
2-231042873-C-T | SP110 | c.1447G>A | p.G483R | Missense | 13/19 | - |
2-231042873-C-G | SP110 | c.1447G>C | p.G483R | Missense | 13/19 | - |
2-232326517-T-G | NCL | c.347A>C | p.K116T | Missense | 3/14 | - |
2-232457880-T-C | TEX44 | c.218T>C | p.V73A | Missense | 1/1 | - |
2-234750380-C-T | HJURP | c.1046G>A | p.R349H | Missense | 8/9 | - |
2-238427194-T-C | MLPH | c.458T>C | p.L153P | Missense | 5/16 | - |
2-241401673-G-A | GPC1 | c.391G>A | p.G131R | Missense | 3/9 | - |
2-241401673-G-C | GPC1 | c.391G>C | p.G131R | Missense | 3/9 | - |
3-48643235-C-A | UQCRC1 | c.265G>T | p.A89S | Missense | 3/13 | - |
2-242204015-T-C | HDLBP | c.82A>G | p.T28A | Missense | 4/28 | - |
2-242498984-C-G | BOK | c.86C>G | p.A29G | Missense | 2/5 | - |
2-242606080-G-A | ATG4B | c.559G>A | p.V187I | Missense | 8/13 | - |
2-242674803-G-A | D2HGDH | c.164G>A | p.R55Q | Missense | 2/10 | - |
3-439968-G-C | CHL1 | c.3153G>C | p.E1051D | Missense | 25/28 | - |
3-5216072-A-G | ARL8B | c.484A>G | p.I162V | Missense | 6/7 | - |
3-12544829-G-A | TSEN2 | c.377G>A | p.R126H | Missense | 5/12 | - |
3-12861608-G-A | CAND2 | c.2968G>A | p.V990I | Missense | 11/15 | - |
3-12880956-T-C | RPL32 | c.170A>G | p.N57S | Missense | 3/4 | - |
3-12962074-G-A | IQSEC1 | c.1876C>T | p.P626S | Missense | 6/15 | - |
3-13379371-C-T | NUP210 | c.3518G>A | p.R1173H | Missense | 26/40 | - |
3-13649600-G-A | FBLN2 | c.1345G>A | p.G449R | Missense | 3/18 | - |
3-13649600-G-C | FBLN2 | c.1345G>C | p.G449R | Missense | 3/18 | - |
3-14199940-C-G | XPC | c.1443G>C | p.K481N | Missense | 9/16 | - |
3-14220032-C-T | XPC | c.37G>A | p.G13R | Missense | 1/16 | - |
3-14862235-G-A | FGD5 | c.1657G>A | p.V553M | Missense | 1/20 | - |
3-15115872-A-G | RBSN | c.1772T>C | p.L591P | Missense | 14/14 | - |
3-15137528-C-G | RBSN | c.100G>C | p.E34Q | Missense | 4/14 | - |
3-15297787-T-C | SH3BP5 | c.1174A>G | p.N392D | Missense | 9/9 | - |
3-32586521-C-T | DYNC1LI1 | c.415G>A | p.V139I | Missense | 4/13 | - |
3-37144467-CT-TG | LRRFIP2 | c.820_821delAGinsCA | p.R274Q | Missense | 15/28 | - |
3-39108050-T-G | WDR48 | c.280T>G | p.S94A | Missense | 4/19 | - |
3-44285446-A-G | TOPAZ1 | c.1448A>G | p.Q483R | Missense | 2/20 | - |
3-44852353-A-G | KIF15 | c.1987A>G | p.T663A | Missense | 17/35 | - |
3-45132872-C-T | CDCP1 | c.1786G>A | p.G596S | Missense | 7/9 | - |
3-47545919-G-A | ELP6 | c.224C>T | p.A75V | Missense | 4/7 | - |
3-48309828-C-G | ZNF589 | c.647C>G | p.T216R | Missense | 4/4 | - |
3-48664473-C-T | SLC26A6 | c.1909G>A | p.D637N | Missense | 18/21 | - |
3-49153935-G-T | USP19 | c.1232C>A | p.T411N | Missense | 8/27 | - |
3-49373027-T-C | USP4 | c.104A>G | p.Y35C | Missense | 2/22 | - |
3-49662566-C-T | BSN | c.383C>T | p.T128M | Missense | 2/12 | - |
3-49679930-C-T | BSN | c.863C>T | p.P288L | Missense | 3/12 | - |
3-49689642-C-T | BSN | c.2653C>T | p.P885S | Missense | 5/12 | - |
3-49690627-G-A | BSN | c.3638G>A | p.G1213D | Missense | 5/12 | - |
3-49691434-C-T | BSN | c.4445C>T | p.P1482L | Missense | 5/12 | - |
3-49698115-G-A | BSN | c.8837G>A | p.R2946Q | Missense | 6/12 | - |
3-49700582-G-A | BSN | c.10991G>A | p.R3664Q | Missense | 7/12 | - |
3-49701910-C-T | BSN | c.11663C>T | p.P3888L | Missense | 9/12 | - |
3-51672170-A-G | RAD54L2 | c.1693A>G | p.T565A | Missense | 12/23 | - |
3-51746781-C-T | GRM2 | c.743C>T | p.A248V | Missense | 3/6 | - |
3-51929096-C-T | IQCF1 | c.428G>A | p.R143H | Missense | 4/4 | - |
3-52027986-T-G | RPL29 | c.259A>C | p.K87Q | Missense | 4/4 | - |
3-52366368-A-G | DNAH1 | c.1244A>G | p.K415R | Missense | 8/78 | - |
3-52378540-G-C | DNAH1 | c.1321G>C | p.V441L | Missense | 9/78 | - |
3-52378540-G-T | DNAH1 | c.1321G>T | p.V441L | Missense | 9/78 | - |
3-52426643-G-A | DNAH1 | c.10216G>A | p.V3406I | Missense | 64/78 | - |
3-53263383-A-G | TKT | c.1177T>C | p.F393L | Missense | 9/14 | - |
3-53263381-G-T | TKT | c.1179C>A | p.F393L | Missense | 9/14 | - |
3-53263381-G-C | TKT | c.1179C>G | p.F393L | Missense | 9/14 | - |
3-53267183-C-T | TKT | c.737G>A | p.R246Q | Missense | 6/14 | - |
3-53269028-G-C | TKT | c.600C>G | p.D200E | Missense | 5/14 | - |
3-53269028-G-T | TKT | c.600C>A | p.D200E | Missense | 5/14 | - |
3-53269087-T-C | TKT | c.541A>G | p.I181V | Missense | 5/14 | - |
3-53834369-G-A | CACNA1D | c.5017G>A | p.E1673K | Missense | 41/48 | - |
3-56020014-AA-CT | ERC2 | c.2257_2258delTTinsAG | p.L753R | Missense | 12/18 | - |
3-56330401-G-T | ERC2 | c.720C>A | p.H240Q | Missense | 3/18 | - |
3-56330401-G-C | ERC2 | c.720C>G | p.H240Q | Missense | 3/18 | - |
3-57542456-T-C | PDE12 | c.350T>C | p.V117A | Missense | 1/3 | - |
3-58080583-A-G | FLNB | c.808A>G | p.M270V | Missense | 5/46 | - |
3-58552997-C-A | FAM107A | c.265G>T | p.A89S | Missense | 3/4 | - |
3-101283792-C-G | TRMT10C | c.167C>G | p.P56R | Missense | 2/2 | - |
3-101293097-A-G | PCNP | c.38A>G | p.K13R | Missense | 1/5 | - |
3-101568656-TC-GG | NFKBIZ | c.184_185delTCinsGG | p.S62G | Missense | 1/12 | - |
3-107097072-T-C | CCDC54 | c.638T>C | p.I213T | Missense | 1/1 | - |
3-111603151-G-T | PHLDB2 | c.227G>T | p.G76V | Missense | 2/18 | - |
3-111710287-G-C | ABHD10 | c.640G>C | p.V214L | Missense | 5/5 | - |
3-111710398-A-G | ABHD10 | c.751A>G | p.I251V | Missense | 5/5 | - |
3-113052314-G-C | CFAP44 | c.3554C>G | p.P1185R | Missense | 25/35 | - |
3-113179485-T-C | SPICE1 | c.1414A>G | p.R472G | Missense | 12/18 | - |
6-34360064-A-G | NUDT3 | c.76T>C | p.F26L | Missense | 1/5 | - |
3-113285388-T-G | SIDT1 | c.344T>G | p.L115R | Missense | 2/25 | - |
3-113377207-T-C | USF3 | c.3322A>G | p.T1108A | Missense | 7/7 | - |
3-122296638-G-A | PARP15 | c.124G>A | p.V42M | Missense | 1/12 | - |
3-122419083-C-A | PARP14 | c.1682C>A | p.A561E | Missense | 6/17 | - |
3-126451937-G-T | CHCHD6 | c.283G>T | p.A95S | Missense | 4/8 | - |
3-126733406-G-A | PLXNA1 | c.2690G>A | p.R897H | Missense | 13/32 | - |
3-126748749-A-G | PLXNA1 | c.4903A>G | p.S1635G | Missense | 28/32 | - |
3-130293046-G-C | COL6A6 | c.3224G>C | p.G1075A | Missense | 7/36 | - |
3-133467337-G-T | TF | c.125G>T | p.R42L | Missense | 2/17 | - |
3-133670066-G-A | SLCO2A1 | c.847C>T | p.P283S | Missense | 6/14 | - |
3-133748570-G-A | SLCO2A1 | c.77C>T | p.S26L | Missense | 1/14 | - |
3-134080570-CCG-GCT | AMOTL2 | c.1357_1359delCGGinsAGC | p.R453S | Missense | 6/10 | - |
3-134090193-G-A | AMOTL2 | c.83C>T | p.T28M | Missense | 2/10 | - |
3-139257727-T-C | RBP1 | c.334A>G | p.M112V | Missense | 2/4 | - |
3-140123483-A-G | CLSTN2 | c.512A>G | p.E171G | Missense | 4/17 | - |
3-141006211-G-A | PXYLP1 | c.421G>A | p.G141R | Missense | 5/6 | - |
3-141006211-G-C | PXYLP1 | c.421G>C | p.G141R | Missense | 5/6 | - |
3-153840389-T-C | ARHGEF26 | c.608T>C | p.F203S | Missense | 2/15 | - |
3-153958173-A-G | ARHGEF26 | c.2105A>G | p.N702S | Missense | 12/15 | - |
3-156266724-C-T | SSR3 | c.329G>A | p.R110K | Missense | 3/5 | - |
3-156413682-A-C | TIPARP | c.1115A>C | p.N372T | Missense | 4/6 | - |
3-156697028-C-T | LEKR1 | c.791C>T | p.A264V | Missense | 7/13 | - |
3-169572694-C-T | LRRC31 | c.898G>A | p.E300K | Missense | 6/9 | - |
3-171394548-C-A | PLD1 | c.2072G>T | p.R691L | Missense | 18/27 | - |
3-179119066-C-T | GNB4 | c.958G>A | p.V320I | Missense | 10/10 | - |
3-179408054-C-T | USP13 | c.320C>T | p.A107V | Missense | 3/21 | - |
3-182584077-T-G | ATP11B | c.1465T>G | p.F489V | Missense | 14/30 | - |
3-186006619-T-A | DGKG | c.424A>T | p.T142S | Missense | 6/25 | - |
3-187088958-C-T | RTP4 | c.538C>T | p.H180Y | Missense | 2/2 | - |
3-194408444-G-A | FAM43A | c.889G>A | p.E297K | Missense | 1/1 | - |
3-195300740-C-T | APOD | c.226G>A | p.V76M | Missense | 3/5 | - |
3-195300800-A-C | APOD | c.166T>G | p.F56V | Missense | 3/5 | - |
3-195792376-T-C | TFRC | c.1136A>G | p.N379S | Missense | 10/19 | - |
3-196234847-C-T | SMCO1 | c.556G>A | p.V186M | Missense | 3/3 | - |
4-366596-A-G | ZNF141 | c.370A>G | p.K124E | Missense | 4/4 | - |
4-668009-G-A | ATP5ME | c.28C>T | p.L10F | Missense | 1/4 | - |
4-982821-C-A | SLC26A1 | c.1906G>T | p.D636Y | Missense | 3/3 | - |
4-1818625-T-C | LETM1 | c.1760A>G | p.K587R | Missense | 12/14 | - |
4-1824020-C-T | LETM1 | c.1496G>A | p.R499H | Missense | 10/14 | - |
4-3519881-C-T | LRPAP1 | c.631G>A | p.D211N | Missense | 5/8 | - |
4-7666160-G-A | SORCS2 | c.1033G>A | p.G345R | Missense | 7/27 | - |
4-7666160-G-C | SORCS2 | c.1033G>C | p.G345R | Missense | 7/27 | - |
4-8605841-G-A | CPZ | c.635G>A | p.S212N | Missense | 4/11 | - |
4-9452222-C-G | DEFB131A | c.195C>G | p.D65E | Missense | 2/2 | - |
4-9452222-C-A | DEFB131A | c.195C>A | p.D65E | Missense | 2/2 | - |
4-10446707-C-T | ZNF518B | c.1246G>A | p.V416I | Missense | 3/3 | - |
4-13604206-C-T | BOD1L1 | c.4318G>A | p.V1440I | Missense | 10/26 | - |
4-37836294-G-A | PGM2 | c.304G>A | p.V102M | Missense | 3/14 | - |
4-41263776-A-C | UCHL1 | c.370A>C | p.M124L | Missense | 5/9 | - |
4-41263776-A-T | UCHL1 | c.370A>T | p.M124L | Missense | 5/9 | - |
4-47537548-G-A | ATP10D | c.799G>A | p.V267M | Missense | 6/23 | - |
4-47570876-G-A | ATP10D | c.2876G>A | p.S959N | Missense | 16/23 | - |
4-47809012-G-A | CORIN | c.116C>T | p.A39V | Missense | 2/22 | - |
4-47839939-C-T | CORIN | c.28G>A | p.E10K | Missense | 1/22 | - |
4-47896315-A-G | NFXL1 | c.1334T>C | p.V445A | Missense | 11/23 | - |
4-48027327-G-A | NIPAL1 | c.289G>A | p.A97T | Missense | 2/6 | - |
4-68484837-C-G | UBA6 | c.3037G>C | p.V1013L | Missense | 33/33 | - |
4-68484837-C-A | UBA6 | c.3037G>T | p.V1013L | Missense | 33/33 | - |
4-68534392-C-T | UBA6 | c.670G>A | p.A224T | Missense | 9/33 | - |
4-69337325-C-A | TMPRSS11E | c.474C>A | p.H158Q | Missense | 5/10 | - |
4-69337325-C-G | TMPRSS11E | c.474C>G | p.H158Q | Missense | 5/10 | - |
4-70799939-C-G | CSN1S1 | c.61C>G | p.L21V | Missense | 3/16 | - |
4-70898905-G-C | HTN3 | c.124G>C | p.G42R | Missense | 5/6 | - |
4-71471905-G-C | AMBN | c.802G>C | p.G268R | Missense | 13/13 | - |
4-71508539-G-A | ENAM | c.1396G>A | p.V466I | Missense | 9/9 | - |
4-71555598-C-A | UTP3 | c.1204C>A | p.L402I | Missense | 1/1 | - |
4-74274363-A-G | ALB | c.323A>G | p.Y108C | Missense | 4/15 | - |
4-77089557-C-T | SCARB2 | c.1186G>A | p.V396I | Missense | 9/12 | - |
4-79371331-C-T | FRAS1 | c.6301C>T | p.H2101Y | Missense | 45/74 | - |
4-79507418-C-T | ANXA3 | c.317C>T | p.A106V | Missense | 6/13 | - |
4-83785581-A-C | SEC31A | c.1368T>G | p.N456K | Missense | 11/27 | - |
4-83785581-A-T | SEC31A | c.1368T>A | p.N456K | Missense | 11/27 | - |
4-88116529-C-G | KLHL8 | c.163G>C | p.G55R | Missense | 2/10 | - |
4-88578220-G-A | DMP1 | c.91G>A | p.E31K | Missense | 3/6 | - |
4-90171195-C-T | GPRIN3 | c.67G>A | p.D23N | Missense | 2/2 | - |
4-91230579-G-A | CCSER1 | c.1144G>A | p.G382S | Missense | 2/11 | - |
4-91549361-A-G | CCSER1 | c.1910A>G | p.K637R | Missense | 6/11 | - |
4-96761363-T-A | PDHA2 | c.62T>A | p.V21E | Missense | 1/1 | - |
4-104013796-T-C | BDH2 | c.209A>G | p.N70S | Missense | 4/10 | - |
4-104057383-T-C | CENPE | c.6437A>G | p.Y2146C | Missense | 40/49 | - |
4-113568861-C-T | LARP7 | c.1013C>T | p.T338I | Missense | 8/13 | - |
4-114274230-G-C | ANK2 | c.4456G>C | p.V1486L | Missense | 38/46 | - |
4-114276880-T-C | ANK2 | c.7106T>C | p.V2369A | Missense | 38/46 | - |
4-114276906-G-A | ANK2 | c.7132G>A | p.E2378K | Missense | 38/46 | - |
4-114279674-C-G | ANK2 | c.9900C>G | p.S3300R | Missense | 38/46 | - |
4-114279674-C-A | ANK2 | c.9900C>A | p.S3300R | Missense | 38/46 | - |
4-114279672-A-C | ANK2 | c.9898A>C | p.S3300R | Missense | 38/46 | - |
4-122590824-A-G | ANXA5 | c.836T>C | p.I279T | Missense | 12/13 | - |
4-151141918-A-C | DCLK2 | c.1120A>C | p.I374L | Missense | 6/16 | - |
4-151141918-A-T | DCLK2 | c.1120A>T | p.I374L | Missense | 6/16 | - |
4-156274377-T-C | MAP9 | c.1496A>G | p.K499R | Missense | 11/14 | - |
4-159631800-C-T | PPID | c.1004G>A | p.G335E | Missense | 9/10 | - |
4-159894311-A-G | C4orf45 | c.217T>C | p.Y73H | Missense | 2/5 | - |
4-164435265-A-C | TMA16 | c.194A>C | p.Q65P | Missense | 4/7 | - |
4-169196609-C-T | DDX60 | c.2191G>A | p.V731I | Missense | 16/38 | - |
4-170990375-C-T | AADAT | c.727G>A | p.V243I | Missense | 7/13 | - |
4-187522507-C-G | FAT1 | c.11556G>C | p.E3852D | Missense | 21/27 | - |
4-187522507-C-A | FAT1 | c.11556G>T | p.E3852D | Missense | 21/27 | - |
4-189060945-C-T | TRIML1 | c.233C>T | p.A78V | Missense | 1/6 | - |
5-7900056-A-G | MTRR | c.1982A>G | p.H661R | Missense | 15/15 | - |
5-10250538-T-C | CCT5 | c.86T>C | p.M29T | Missense | 1/11 | - |
5-10261701-C-G | CCT5 | c.1023C>G | p.I341M | Missense | 8/11 | - |
5-10411635-A-C | MARCHF6 | c.1882A>C | p.N628H | Missense | 19/26 | - |
5-10683642-C-T | DAP | c.194G>A | p.R65Q | Missense | 3/4 | - |
5-17275563-G-C | BASP1 | c.238G>C | p.E80Q | Missense | 2/2 | - |
5-17275966-C-T | BASP1 | c.641C>T | p.A214V | Missense | 2/2 | - |
5-17275996-C-A | BASP1 | c.671C>A | p.T224N | Missense | 2/2 | - |
5-33462212-G-A | TARS1 | c.1739G>A | p.G580D | Missense | 16/19 | - |
5-36972056-T-G | NIPBL | c.781T>G | p.S261A | Missense | 8/47 | - |
5-39126145-C-T | FYB1 | c.2000G>A | p.R667Q | Missense | 12/19 | - |
5-41909884-C-A | RIMOC1 | c.244C>A | p.L82I | Missense | 3/6 | - |
5-43556822-G-A | PAIP1 | c.127C>T | p.H43Y | Missense | 1/11 | - |
5-52398005-T-C | MOCS2 | c.148A>G | p.T50A | Missense | 4/7 | - |
5-56778225-T-C | ACTBL2 | c.310A>G | p.I104V | Missense | 1/1 | - |
5-56778405-C-T | ACTBL2 | c.130G>A | p.V44I | Missense | 1/1 | - |
5-60448723-G-A | NDUFAF2 | c.451G>A | p.G151S | Missense | 4/4 | - |
5-64976539-A-T | SGTB | c.562T>A | p.S188T | Missense | 7/11 | - |
5-68603851-A-C | CCDC125 | c.458T>G | p.I153R | Missense | 5/12 | - |
5-68709884-G-A | RAD17 | c.1778G>A | p.R593K | Missense | 19/19 | - |
5-71756654-C-G | ZNF366 | c.670G>C | p.E224Q | Missense | 2/5 | - |
5-78612017-G-A | JMY | c.2854G>A | p.D952N | Missense | 10/11 | - |
5-79024747-C-G | CMYA5 | c.159C>G | p.D53E | Missense | 2/13 | - |
5-79024747-C-A | CMYA5 | c.159C>A | p.D53E | Missense | 2/13 | - |
5-82406931-T-C | XRCC4 | c.224T>C | p.L75S | Missense | 3/8 | - |
5-82491684-T-G | XRCC4 | c.411T>G | p.N137K | Missense | 4/8 | - |
5-82491684-T-A | XRCC4 | c.411T>A | p.N137K | Missense | 4/8 | - |
5-82808027-C-T | VCAN | c.854C>T | p.A285V | Missense | 6/15 | - |
5-82816284-T-C | VCAN | c.2159T>C | p.V720A | Missense | 7/15 | - |
5-82937374-C-T | HAPLN1 | c.1006G>A | p.G336S | Missense | 5/5 | - |
5-82937538-T-C | HAPLN1 | c.842A>G | p.N281S | Missense | 5/5 | - |
5-89703641-C-A | CETN3 | c.28G>T | p.V10L | Missense | 2/5 | - |
5-89783924-T-G | POLR3G | c.225T>G | p.I75M | Missense | 3/8 | - |
5-96478219-G-A | LIX1 | c.62C>T | p.P21L | Missense | 1/6 | - |
5-101834469-G-A | SLCO6A1 | c.80C>T | p.A27V | Missense | 1/14 | - |
5-109940891-C-T | TMEM232 | c.1195G>A | p.D399N | Missense | 10/14 | - |
5-110096992-A-G | SLC25A46 | c.767A>G | p.K256R | Missense | 8/8 | - |
5-125880710-T-C | ALDH7A1 | c.1567A>G | p.T523A | Missense | 18/18 | - |
5-125887715-T-G | ALDH7A1 | c.1315A>C | p.K439Q | Missense | 14/18 | - |
5-132097292-C-T | SEPTIN8 | c.820G>A | p.V274M | Missense | 7/10 | - |
5-132435253-C-G | HSPA4 | c.1946C>G | p.T649S | Missense | 16/19 | - |
5-132435252-A-T | HSPA4 | c.1945A>T | p.T649S | Missense | 16/19 | - |
5-134782443-T-C | DCANP1 | c.356A>G | p.K119R | Missense | 1/1 | - |
5-138160248-G-T | CTNNA1 | c.618G>T | p.Q206H | Missense | 6/18 | - |
5-138160248-G-C | CTNNA1 | c.618G>C | p.Q206H | Missense | 6/18 | - |
5-139231255-C-T | NRG2 | c.1706G>A | p.R569H | Missense | 9/10 | - |
5-139661097-T-G | PFDN1 | c.222A>C | p.E74D | Missense | 3/4 | - |
5-139661097-T-A | PFDN1 | c.222A>T | p.E74D | Missense | 3/4 | - |
5-140222788-A-G | PCDHA8 | c.1882A>G | p.T628A | Missense | 1/4 | - |
5-140503474-C-G | PCDHB4 | c.1894C>G | p.R632G | Missense | 1/1 | - |
5-140730384-G-T | PCDHGB1 | c.557G>T | p.S186I | Missense | 1/4 | - |
5-140751840-C-A | PCDHGB3 | c.1879C>A | p.R627S | Missense | 1/4 | - |
5-140772573-C-T | PCDHGA8 | c.193C>T | p.R65C | Missense | 1/4 | - |
5-140795128-T-C | PCDHGA10 | c.2386T>C | p.S796P | Missense | 1/4 | - |
5-141052386-C-G | ARAP3 | c.1200G>C | p.M400I | Missense | 8/33 | - |
5-141052386-C-T | ARAP3 | c.1200G>A | p.M400I | Missense | 8/33 | - |
5-141052386-C-A | ARAP3 | c.1200G>T | p.M400I | Missense | 8/33 | - |
5-141248963-T-G | PCDH1 | c.74A>C | p.H25P | Missense | 2/5 | - |
5-145439659-G-A | SH3RF2 | c.1786G>A | p.A596T | Missense | 9/10 | - |
5-149003626-G-A | ARHGEF37 | c.1387G>A | p.A463T | Missense | 10/13 | - |
5-150029383-C-T | SYNPO | c.1546C>T | p.P516S | Missense | 2/3 | - |
5-154278151-G-A | GEMIN5 | c.3194C>T | p.A1065V | Missense | 23/28 | - |
5-156531694-G-C | HAVCR2 | c.461C>G | p.T154S | Missense | 3/7 | - |
5-156531695-T-A | HAVCR2 | c.460A>T | p.T154S | Missense | 3/7 | - |
5-157065499-A-G | SOX30 | c.1619T>C | p.L540P | Missense | 4/5 | - |
5-157106855-G-A | C5orf52 | c.328G>A | p.A110T | Missense | 3/3 | - |
5-159437621-C-G | TTC1 | c.86C>G | p.A29G | Missense | 2/8 | - |
5-159659262-G-C | FABP6 | c.225G>C | p.M75I | Missense | 2/4 | - |
5-159659262-G-A | FABP6 | c.225G>A | p.M75I | Missense | 2/4 | - |
5-159659262-G-T | FABP6 | c.225G>T | p.M75I | Missense | 2/4 | - |
5-169020469-G-A | SPDL1 | c.448G>A | p.V150I | Missense | 4/12 | - |
5-176016559-C-T | CDHR2 | c.3148C>T | p.R1050W | Missense | 24/32 | - |
5-176025334-C-T | GPRIN1 | c.1502G>A | p.G501E | Missense | 2/2 | - |
5-179268995-C-T | MRNIP | c.361G>A | p.E121K | Missense | 5/7 | - |
5-180631828-G-C | TRIM7 | c.283C>G | p.Q95E | Missense | 1/7 | - |
6-491150-C-A | EXOC2 | c.2596G>T | p.A866S | Missense | 26/28 | - |
6-2893754-A-G | SERPINB9 | c.458T>C | p.I153T | Missense | 5/7 | - |
6-3010298-A-G | NQO2 | c.47A>G | p.K16R | Missense | 3/7 | - |
6-3012778-G-A | NQO2 | c.173G>A | p.G58D | Missense | 4/7 | - |
6-7395322-A-G | RIOK1 | c.313A>G | p.M105V | Missense | 3/17 | - |
6-10709581-A-G | PAK1IP1 | c.1075A>G | p.K359E | Missense | 10/10 | - |
6-10942964-A-G | SYCP2L | c.1939A>G | p.N647D | Missense | 23/30 | - |
6-12164348-C-T | HIVEP1 | c.7811C>T | p.P2604L | Missense | 9/9 | - |
6-17688693-C-T | NUP153 | c.268G>A | p.D90N | Missense | 2/22 | - |
6-24436901-T-C | GPLD1 | c.2261A>G | p.E754G | Missense | 22/25 | - |
6-24559300-C-T | KIAA0319 | c.2675G>A | p.R892Q | Missense | 17/21 | - |
6-27279805-G-T | POM121L2 | c.145C>A | p.P49T | Missense | 1/1 | - |
6-27879397-T-C | OR2B2 | c.701A>G | p.Q234R | Missense | 1/1 | - |
6-29430334-C-T | OR2H1 | c.788C>T | p.P263L | Missense | 4/4 | - |
6-30135009-T-G | TRIM15 | c.438T>G | p.D146E | Missense | 2/7 | - |
6-30135009-T-A | TRIM15 | c.438T>A | p.D146E | Missense | 2/7 | - |
6-30593485-C-G | MRPS18B | c.688C>G | p.P230A | Missense | 7/7 | - |
6-30610758-G-T | ATAT1 | c.902G>T | p.G301V | Missense | 10/13 | - |
6-30672888-A-T | MDC1 | c.4072T>A | p.S1358T | Missense | 10/15 | - |
6-30673013-A-G | MDC1 | c.3947T>C | p.M1316T | Missense | 10/15 | - |
6-31105900-C-A | PSORS1C2 | c.239G>T | p.G80V | Missense | 2/2 | - |
6-31322410-A-T | HLA-B | c.1045T>A | p.C349S | Missense | 6/8 | - |
6-31324063-G-C | HLA-B | c.500C>G | p.T167S | Missense | 3/8 | - |
6-31600106-C-A | PRRC2A | c.3656C>A | p.S1219Y | Missense | 16/31 | - |
6-31600696-G-A | PRRC2A | c.4246G>A | p.G1416S | Missense | 16/31 | - |
6-31868938-C-T | ZBTB12 | c.145G>A | p.V49I | Missense | 2/2 | - |
6-31937373-C-T | SKIV2L | c.3622C>T | p.R1208C | Missense | 28/28 | - |
6-32159931-G-C | GPSM3 | c.139C>G | p.H47D | Missense | 2/4 | - |
6-32782926-G-T | HLA-DOB | c.256C>A | p.Q86K | Missense | 2/6 | - |
6-33257969-C-T | PFDN6 | c.83C>T | p.S28L | Missense | 2/4 | - |
6-33405980-C-T | SYNGAP1 | c.1298C>T | p.A433V | Missense | 8/19 | - |
6-34360062-G-T | NUDT3 | c.78C>A | p.F26L | Missense | 1/5 | - |
6-34360062-G-C | NUDT3 | c.78C>G | p.F26L | Missense | 1/5 | - |
6-36652117-C-T | CDKN1A | c.239C>T | p.T80M | Missense | 2/3 | - |
6-36953903-G-A | MTCH1 | c.47C>T | p.A16V | Missense | 1/12 | - |
6-38084405-C-T | ZFAND3 | c.419C>T | p.T140M | Missense | 5/6 | - |
6-38881708-G-A | DNAH8 | c.9943G>A | p.A3315T | Missense | 67/93 | - |
6-38905864-C-T | DNAH8 | c.11678C>T | p.A3893V | Missense | 78/93 | - |
6-38906729-C-T | DNAH8 | c.11972C>T | p.T3991I | Missense | 79/93 | - |
6-39869235-G-T | DAAM2 | c.2969G>T | p.R990L | Missense | 24/25 | - |
6-40399877-C-T | LRFN2 | c.976G>A | p.D326N | Missense | 2/3 | - |
6-42072274-C-T | C6orf132 | c.3376G>A | p.A1126T | Missense | 4/5 | - |
6-42666136-G-A | PRPH2 | c.938C>T | p.P313L | Missense | 3/3 | - |
6-43252029-T-C | TTBK1 | c.3551T>C | p.L1184S | Missense | 14/15 | - |
6-44218163-G-A | HSP90AB1 | c.784G>A | p.G262S | Missense | 6/12 | - |
6-46632594-T-C | SLC25A27 | c.590T>C | p.I197T | Missense | 5/9 | - |
6-46657421-G-T | TDRD6 | c.1556G>T | p.R519I | Missense | 1/4 | - |
6-49519169-T-C | C6orf141 | c.664T>C | p.S222P | Missense | 1/1 | - |
6-52998936-C-T | GCM1 | c.262G>A | p.A88T | Missense | 3/6 | - |
6-72889549-C-T | RIMS1 | c.743C>T | p.S248L | Missense | 5/34 | - |
6-76024220-C-T | FILIP1 | c.1328G>A | p.S443N | Missense | 5/6 | - |
6-76728524-C-T | IMPG1 | c.718G>A | p.V240I | Missense | 7/17 | - |
6-84025039-C-T | ME1 | c.694G>A | p.V232I | Missense | 6/14 | - |
6-84634296-C-G | CYB5R4 | c.799C>G | p.P267A | Missense | 10/16 | - |
6-85473758-C-G | TBX18 | c.142G>C | p.G48R | Missense | 1/8 | - |
6-86195033-G-A | NT5E | c.832G>A | p.V278I | Missense | 4/9 | - |
6-88125455-T-C | CFAP206 | c.335T>C | p.V112A | Missense | 5/13 | - |
6-90347511-T-C | LYRM2 | c.136A>G | p.K46E | Missense | 2/3 | - |
6-107103510-G-C | QRSL1 | c.1063G>C | p.V355L | Missense | 9/11 | - |
6-107103510-G-T | QRSL1 | c.1063G>T | p.V355L | Missense | 9/11 | - |
6-108197775-G-A | SEC63 | c.2027C>T | p.T676I | Missense | 19/21 | - |
6-123714775-C-T | TRDN | c.1099G>A | p.A367T | Missense | 13/41 | - |
6-123833457-G-C | TRDN | c.601C>G | p.L201V | Missense | 7/41 | - |
6-129513837-A-G | LAMA2 | c.1621A>G | p.S541G | Missense | 12/65 | - |
6-129959721-C-T | ARHGAP18 | c.370G>A | p.G124R | Missense | 3/15 | - |
6-130182304-G-C | TMEM244 | c.30C>G | p.S10R | Missense | 1/5 | - |
6-130182304-G-T | TMEM244 | c.30C>A | p.S10R | Missense | 1/5 | - |
6-130182306-T-G | TMEM244 | c.28A>C | p.S10R | Missense | 1/5 | - |
6-132874526-C-G | TAAR8 | c.695C>G | p.T232S | Missense | 1/1 | - |
6-132874525-A-T | TAAR8 | c.694A>T | p.T232S | Missense | 1/1 | - |
6-133091458-A-T | SLC18B1 | c.1322T>A | p.I441N | Missense | 14/14 | - |
6-136681926-T-G | MAP7 | c.1712A>C | p.E571A | Missense | 13/18 | - |
6-142539730-G-A | VTA1 | c.874G>A | p.V292I | Missense | 8/8 | - |
6-144779908-G-A | UTRN | c.2287G>A | p.G763S | Missense | 19/74 | - |
6-144844317-C-T | UTRN | c.5899C>T | p.R1967W | Missense | 40/74 | - |
6-144854342-G-A | UTRN | c.6179G>A | p.G2060D | Missense | 42/74 | - |
6-147136244-A-G | ADGB | c.4895A>G | p.H1632R | Missense | 36/36 | - |
6-151672151-G-C | AKAP12 | c.2625G>C | p.K875N | Missense | 4/5 | - |
6-151672151-G-T | AKAP12 | c.2625G>T | p.K875N | Missense | 4/5 | - |
6-151672399-G-C | AKAP12 | c.2873G>C | p.R958T | Missense | 4/5 | - |
6-151672774-C-T | AKAP12 | c.3248C>T | p.A1083V | Missense | 4/5 | - |
6-151672812-G-A | AKAP12 | c.3286G>A | p.V1096I | Missense | 4/5 | - |
6-151673589-G-A | AKAP12 | c.4063G>A | p.E1355K | Missense | 4/5 | - |
6-151744739-T-G | RMND1 | c.858A>C | p.E286D | Missense | 7/12 | - |
6-151744739-T-A | RMND1 | c.858A>T | p.E286D | Missense | 7/12 | - |
6-151894567-G-A | CCDC170 | c.1033G>A | p.E345K | Missense | 6/11 | - |
6-158349699-C-T | SNX9 | c.1253C>T | p.T418M | Missense | 12/18 | - |
6-158923709-C-T | TULP4 | c.3014C>T | p.P1005L | Missense | 13/14 | - |
6-159655190-G-A | FNDC1 | c.3646G>A | p.D1216N | Missense | 11/23 | - |
6-166721108-G-T | PRR18 | c.523C>A | p.L175I | Missense | 1/1 | - |
6-167752274-C-T | TTLL2 | c.187C>T | p.P63S | Missense | 2/3 | - |
6-170627797-A-G | FAM120B | c.1319A>G | p.Y440C | Missense | 2/11 | - |
7-1487384-C-G | MICALL2 | c.352G>C | p.V118L | Missense | 4/17 | - |
7-1487384-C-A | MICALL2 | c.352G>T | p.V118L | Missense | 4/17 | - |
7-2472455-A-T | CHST12 | c.181A>T | p.T61S | Missense | 2/2 | - |
7-2692634-C-T | TTYH3 | c.1010C>T | p.P337L | Missense | 9/14 | - |
7-3341304-G-A | SDK1 | c.86G>A | p.R29Q | Missense | 1/45 | - |
7-4841308-C-T | RADIL | c.2818G>A | p.G940S | Missense | 12/15 | - |
7-4900418-A-G | PAPOLB | c.1024T>C | p.F342L | Missense | 1/1 | - |
7-4900416-A-T | PAPOLB | c.1026T>A | p.F342L | Missense | 1/1 | - |
7-4900416-A-C | PAPOLB | c.1026T>G | p.F342L | Missense | 1/1 | - |
7-4901191-T-C | PAPOLB | c.251A>G | p.K84R | Missense | 1/1 | - |
7-5413923-C-T | TNRC18 | c.2992G>A | p.A998T | Missense | 10/30 | - |
7-6189373-C-T | USP42 | c.1546C>T | p.H516Y | Missense | 13/18 | - |
7-5983092-G-A | RSPH10B | c.1621C>T | p.R541C | Missense | 15/21 | - |
7-16445813-G-A | CRPPA | c.407C>T | p.A136V | Missense | 2/10 | - |
7-20193894-C-G | MACC1 | c.2268G>C | p.K756N | Missense | 6/7 | - |
7-20193894-C-A | MACC1 | c.2268G>T | p.K756N | Missense | 6/7 | - |
7-21813606-A-T | DNAH11 | c.9325A>T | p.T3109S | Missense | 56/82 | - |
7-30538442-G-C | GGCT | c.400C>G | p.P134A | Missense | 3/4 | - |
7-31855625-C-G | PDE1C | c.1726G>C | p.V576L | Missense | 15/18 | - |
7-37053009-C-G | ELMO1 | c.1332G>C | p.M444I | Missense | 16/22 | - |
7-37053009-C-T | ELMO1 | c.1332G>A | p.M444I | Missense | 16/22 | - |
7-37053009-C-A | ELMO1 | c.1332G>T | p.M444I | Missense | 16/22 | - |
7-40039097-C-T | CDK13 | c.2180C>T | p.T727I | Missense | 4/14 | - |
7-43830880-A-G | BLVRA | c.167A>G | p.Q56R | Missense | 4/8 | - |
7-44092484-G-C | DBNL | c.271G>C | p.D91H | Missense | 4/13 | - |
7-44096482-G-A | DBNL | c.454G>A | p.V152M | Missense | 5/13 | - |
7-44431978-T-C | NUDCD3 | c.893A>G | p.D298G | Missense | 5/6 | - |
7-44611235-T-C | DDX56 | c.746A>G | p.Y249C | Missense | 6/14 | - |
7-45125700-C-T | NACAD | c.79G>A | p.D27N | Missense | 2/8 | - |
7-45144211-G-A | TBRG4 | c.833C>T | p.A278V | Missense | 4/11 | - |
7-45753418-G-A | ADCY1 | c.3184G>A | p.G1062S | Missense | 20/20 | - |
7-48318242-G-A | ABCA13 | c.7451G>A | p.R2484K | Missense | 18/62 | - |
7-51096036-G-T | COBL | c.2757C>A | p.H919Q | Missense | 10/13 | - |
7-51096036-G-C | COBL | c.2757C>G | p.H919Q | Missense | 10/13 | - |
7-53103766-G-T | POM121L12 | c.402G>T | p.W134C | Missense | 1/1 | - |
7-53103766-G-C | POM121L12 | c.402G>C | p.W134C | Missense | 1/1 | - |
7-56125757-A-G | CCT6A | c.686A>G | p.Y229C | Missense | 6/14 | - |
7-63809227-G-A | ZNF736 | c.986G>A | p.S329N | Missense | 4/4 | - |
7-64452830-C-T | ERV3-1 | c.575G>A | p.C192Y | Missense | 2/2 | - |
7-70800578-G-A | GALNT17 | c.281G>A | p.R94Q | Missense | 2/11 | - |
7-78131047-G-A | MAGI2 | c.812C>T | p.P271L | Missense | 5/22 | - |
7-82579610-C-T | PCLO | c.10294G>A | p.D3432N | Missense | 6/25 | - |
7-82585758-G-C | PCLO | c.4511C>G | p.T1504S | Missense | 5/25 | - |
7-82585759-T-A | PCLO | c.4510A>T | p.T1504S | Missense | 5/25 | - |
7-82595233-G-A | PCLO | c.3871C>T | p.P1291S | Missense | 4/25 | - |
7-82784588-C-T | PCLO | c.1369G>A | p.G457R | Missense | 2/25 | - |
7-82784588-C-G | PCLO | c.1369G>C | p.G457R | Missense | 2/25 | - |
7-86998764-A-G | CROT | c.620A>G | p.H207R | Missense | 7/18 | - |
7-88963299-G-T | ZNF804B | c.1003G>T | p.D335Y | Missense | 4/4 | - |
7-88964061-A-C | ZNF804B | c.1765A>C | p.K589Q | Missense | 4/4 | - |
7-89891331-G-A | CFAP69 | c.317G>A | p.R106H | Missense | 4/23 | - |
7-91603056-C-T | AKAP9 | c.80C>T | p.S27L | Missense | 2/50 | - |
7-91855043-A-C | KRIT1 | c.1245T>G | p.I415M | Missense | 12/19 | - |
7-94540527-G-A | PPP1R9A | c.1102G>A | p.D368N | Missense | 2/20 | - |
7-98246958-C-T | NPTX2 | c.185C>T | p.A62V | Missense | 1/5 | - |
7-98992084-C-T | ARPC1B | c.1091C>T | p.S364L | Missense | 10/10 | - |
7-99630948-A-G | ZKSCAN1 | c.820A>G | p.N274D | Missense | 6/6 | - |
7-99755343-C-T | TRAPPC14 | c.550G>A | p.V184I | Missense | 3/11 | - |
7-100075358-G-A | TSC22D4 | c.304C>T | p.P102S | Missense | 2/5 | - |
7-100137084-T-A | AGFG2 | c.115T>A | p.C39S | Missense | 1/12 | - |
7-100137085-G-C | AGFG2 | c.116G>C | p.C39S | Missense | 1/12 | - |
7-100806341-C-A | VGF | c.1784G>T | p.R595L | Missense | 2/2 | - |
7-100817818-G-T | NAT16 | c.271C>A | p.P91T | Missense | 2/4 | - |
7-101267298-G-C | MYL10 | c.175C>G | p.L59V | Missense | 3/8 | - |
7-102939019-T-C | PMPCB | c.104T>C | p.L35S | Missense | 2/13 | - |
7-111981007-G-A | ZNF277 | c.1090G>A | p.V364M | Missense | 11/12 | - |
7-119915432-C-T | KCND2 | c.746C>T | p.A249V | Missense | 1/6 | - |
7-121652919-G-T | PTPRZ1 | c.3819G>T | p.L1273F | Missense | 12/30 | - |
7-121652919-G-C | PTPRZ1 | c.3819G>C | p.L1273F | Missense | 12/30 | - |
7-127326788-A-C | SND1 | c.200A>C | p.Q67P | Missense | 2/24 | - |
7-128480652-G-A | FLNC | c.1600G>A | p.E534K | Missense | 10/48 | - |
7-131865473-G-A | PLXNA4 | c.3511C>T | p.P1171S | Missense | 19/32 | - |
7-132193333-A-T | PLXNA4 | c.120T>A | p.F40L | Missense | 2/32 | - |
7-132193333-A-C | PLXNA4 | c.120T>G | p.F40L | Missense | 2/32 | - |
7-133812220-G-A | LRGUK | c.100G>A | p.A34T | Missense | 1/20 | - |
7-139796755-C-G | KDM7A | c.2109G>C | p.M703I | Missense | 16/20 | - |
7-139796755-C-T | KDM7A | c.2109G>A | p.M703I | Missense | 16/20 | - |
7-139796755-C-A | KDM7A | c.2109G>T | p.M703I | Missense | 16/20 | - |
7-148709346-T-C | PDIA4 | c.721A>G | p.T241A | Missense | 5/10 | - |
7-148716209-A-G | PDIA4 | c.350T>C | p.V117A | Missense | 3/10 | - |
7-150269542-G-C | GIMAP4 | c.384G>C | p.E128D | Missense | 3/3 | - |
7-154767477-C-T | PAXIP1 | c.1003G>A | p.V335I | Missense | 6/21 | - |
7-157202503-G-A | DNAJB6 | c.706G>A | p.D236N | Missense | 9/10 | - |
8-2033500-C-T | MYOM2 | c.1622C>T | p.P541L | Missense | 14/37 | - |
8-8235055-G-C | PRAG1 | c.864C>G | p.C288W | Missense | 3/6 | - |
8-11702705-C-T | CTSB | c.949G>A | p.D317N | Missense | 10/10 | - |
8-13424817-A-G | C8orf48 | c.317A>G | p.K106R | Missense | 1/1 | - |
8-17228606-T-G | MTMR7 | c.250A>C | p.I84L | Missense | 3/14 | - |
8-17228606-T-A | MTMR7 | c.250A>T | p.I84L | Missense | 3/14 | - |
8-17794871-T-C | PCM1 | c.325T>C | p.F109L | Missense | 4/39 | - |
8-17794873-C-A | PCM1 | c.327C>A | p.F109L | Missense | 4/39 | - |
8-17794873-C-G | PCM1 | c.327C>G | p.F109L | Missense | 4/39 | - |
8-18658878-G-T | PSD3 | c.1925C>A | p.A642E | Missense | 7/16 | - |
8-21955034-C-T | FHIP2B | c.305C>T | p.P102L | Missense | 4/17 | - |
8-22106646-G-A | POLR3D | c.745G>A | p.V249I | Missense | 7/9 | - |
8-22168677-C-T | PIWIL2 | c.1853C>T | p.A618V | Missense | 16/23 | - |
8-22481763-G-A | BIN3 | c.452C>T | p.T151M | Missense | 7/9 | - |
8-24157589-A-G | ADAM28 | c.149A>G | p.Q50R | Missense | 2/23 | - |
8-27151632-T-G | TRIM35 | c.727A>C | p.M243L | Missense | 3/6 | - |
8-27151632-T-A | TRIM35 | c.727A>T | p.M243L | Missense | 3/6 | - |
8-27925173-T-C | NUGGC | c.569A>G | p.D190G | Missense | 6/19 | - |
8-28209314-C-T | ZNF395 | c.931G>A | p.D311N | Missense | 7/10 | - |
8-28950348-C-T | KIF13B | c.4372G>A | p.V1458M | Missense | 37/40 | - |
8-33246645-A-G | FUT10 | c.1048T>C | p.Y350H | Missense | 4/5 | - |
8-37690649-G-A | ADGRA2 | c.1219G>A | p.G407S | Missense | 9/19 | - |
8-37756662-G-T | RAB11FIP1 | c.298C>A | p.L100I | Missense | 1/6 | - |
8-48878875-C-T | MCM4 | c.961C>T | p.R321C | Missense | 9/17 | - |
8-54742078-T-C | ATP6V1H | c.232A>G | p.I78V | Missense | 4/14 | - |
8-55055320-C-T | MRPL15 | c.527C>T | p.T176I | Missense | 4/5 | - |
8-57026229-C-A | MOS | c.313G>T | p.A105S | Missense | 1/1 | - |
8-59329457-A-G | UBXN2B | c.133A>G | p.K45E | Missense | 2/8 | - |
8-67356832-C-G | ADHFE1 | c.202C>G | p.L68V | Missense | 5/14 | - |
8-71646136-G-A | XKR9 | c.599G>A | p.C200Y | Missense | 5/5 | - |
8-72967795-T-C | TRPA1 | c.1405A>G | p.I469V | Missense | 12/27 | - |
8-74005129-G-T | SBSPON | c.174C>A | p.F58L | Missense | 1/5 | - |
8-74005129-G-C | SBSPON | c.174C>G | p.F58L | Missense | 1/5 | - |
8-75757392-C-T | PI15 | c.422C>T | p.P141L | Missense | 4/6 | - |
8-79629586-C-T | ZC2HC1A | c.836C>T | p.S279F | Missense | 9/9 | - |
8-80942341-C-G | MRPS28 | c.143G>C | p.R48P | Missense | 1/3 | - |
8-82357149-A-G | PMP2 | c.149T>C | p.I50T | Missense | 2/4 | - |
8-95861739-G-A | INTS8 | c.1310G>A | p.G437E | Missense | 11/27 | - |
8-99101429-T-A | ERICH5 | c.184T>A | p.L62I | Missense | 2/3 | - |
8-99101544-C-T | ERICH5 | c.299C>T | p.S100F | Missense | 2/3 | - |
8-99161063-T-G | POP1 | c.1731T>G | p.S577R | Missense | 13/16 | - |
8-99161063-T-A | POP1 | c.1731T>A | p.S577R | Missense | 13/16 | - |
8-99161061-A-C | POP1 | c.1729A>C | p.S577R | Missense | 13/16 | - |
8-101154066-G-A | FBXO43 | c.416C>T | p.P139L | Missense | 2/5 | - |
8-110287630-T-C | NUDCD1 | c.1124A>G | p.Q375R | Missense | 7/10 | - |
8-121354634-C-G | COL14A1 | c.4837C>G | p.Q1613E | Missense | 44/48 | - |
8-124449466-C-T | NTAQ1 | c.400C>T | p.R134C | Missense | 5/6 | - |
8-124664065-G-A | KLHL38 | c.1102C>T | p.P368S | Missense | 2/4 | - |
8-126021519-A-G | SQLE | c.1042A>G | p.I348V | Missense | 6/11 | - |
8-133187752-T-C | KCNQ3 | c.881A>G | p.E294G | Missense | 5/15 | - |
8-134296524-C-T | NDRG1 | c.31G>A | p.A11T | Missense | 2/16 | - |
8-139164523-T-C | FAM135B | c.2195A>G | p.H732R | Missense | 13/20 | - |
8-143436034-A-G | TSNARE1 | c.52T>C | p.F18L | Missense | 2/14 | - |
8-143436032-G-T | TSNARE1 | c.54C>A | p.F18L | Missense | 2/14 | - |
8-143436032-G-C | TSNARE1 | c.54C>G | p.F18L | Missense | 2/14 | - |
8-143747023-C-T | JRK | c.455G>A | p.S152N | Missense | 2/3 | - |
8-144620810-G-C | ZC3H3 | c.727C>G | p.L243V | Missense | 2/12 | - |
8-144671728-C-T | EEF1D | c.524G>A | p.R175Q | Missense | 3/10 | - |
8-144671456-C-T | EEF1D | c.796G>A | p.G266S | Missense | 3/10 | - |
8-144999565-C-T | PLEC | c.4532G>A | p.R1511Q | Missense | 31/32 | - |
8-144999940-G-A | PLEC | c.4157C>T | p.A1386V | Missense | 31/32 | - |
8-145108191-T-C | OPLAH | c.2792A>G | p.Q931R | Missense | 20/28 | - |
8-145140496-C-T | GPAA1 | c.1472C>T | p.P491L | Missense | 11/12 | - |
8-145662005-G-T | TONSL | c.1950C>A | p.D650E | Missense | 16/26 | - |
8-145732180-G-T | GPT | c.1354G>T | p.V452L | Missense | 10/11 | - |
8-145749942-G-C | LRRC24 | c.321C>G | p.S107R | Missense | 3/5 | - |
8-145749942-G-T | LRRC24 | c.321C>A | p.S107R | Missense | 3/5 | - |
8-145749944-T-G | LRRC24 | c.319A>C | p.S107R | Missense | 3/5 | - |
9-730054-A-G | KANK1 | c.2702A>G | p.N901S | Missense | 4/12 | - |
9-5832840-C-T | ERMP1 | c.188G>A | p.G63D | Missense | 1/15 | - |
9-5832928-G-C | ERMP1 | c.100C>G | p.R34G | Missense | 1/15 | - |
9-5906952-A-T | MLANA | c.242A>T | p.H81L | Missense | 4/5 | - |
9-15571630-T-A | CCDC171 | c.50T>A | p.I17N | Missense | 3/26 | - |
9-15578890-T-C | CCDC171 | c.221T>C | p.V74A | Missense | 4/26 | - |
9-17340839-T-G | CNTLN | c.1659T>G | p.D553E | Missense | 11/26 | - |
9-17340839-T-A | CNTLN | c.1659T>A | p.D553E | Missense | 11/26 | - |
9-19058598-C-A | HAUS6 | c.2167G>T | p.D723Y | Missense | 16/17 | - |
9-27292474-T-C | EQTN | c.301A>G | p.N101D | Missense | 4/8 | - |
9-32633036-C-T | TAF1L | c.2542G>A | p.D848N | Missense | 1/1 | - |
9-34256579-C-T | KIF24 | c.3026G>A | p.R1009K | Missense | 11/13 | - |
9-34972352-G-A | PHF24 | c.388G>A | p.D130N | Missense | 3/8 | - |
9-35811229-A-G | SPAG8 | c.814T>C | p.Y272H | Missense | 2/7 | - |
9-35958056-C-T | OR2S2 | c.40G>A | p.V14I | Missense | 1/1 | - |
9-36147798-A-C | GLIPR2 | c.29A>C | p.H10P | Missense | 2/5 | - |
9-38577101-G-A | ANKRD18A | c.2690C>T | p.A897V | Missense | 14/16 | - |
9-38595886-T-C | ANKRD18A | c.1451A>G | p.N484S | Missense | 9/16 | - |
9-38596301-T-C | ANKRD18A | c.1036A>G | p.N346D | Missense | 9/16 | - |
9-71549847-G-A | PIP5K1B | c.1243G>A | p.A415T | Missense | 13/16 | - |
9-71851877-G-C | TJP2 | c.2004G>C | p.M668I | Missense | 14/23 | - |
9-71851877-G-T | TJP2 | c.2004G>T | p.M668I | Missense | 14/23 | - |
9-71862965-C-T | TJP2 | c.2705C>T | p.S902F | Missense | 19/23 | - |
9-74360234-C-T | CEMIP2 | c.734G>A | p.R245K | Missense | 4/24 | - |
9-74840668-G-A | GDA | c.790G>A | p.V264M | Missense | 8/14 | - |
9-75542082-A-G | ALDH1A1 | c.454T>C | p.F152L | Missense | 5/13 | - |
9-75542080-A-T | ALDH1A1 | c.456T>A | p.F152L | Missense | 5/13 | - |
9-75542080-A-C | ALDH1A1 | c.456T>G | p.F152L | Missense | 5/13 | - |
9-79002397-C-T | RFK | c.386G>A | p.R129Q | Missense | 4/4 | - |
9-79319874-C-A | PRUNE2 | c.7316G>T | p.S2439I | Missense | 8/19 | - |
9-79320439-T-G | PRUNE2 | c.6751A>C | p.I2251L | Missense | 8/19 | - |
9-79320439-T-A | PRUNE2 | c.6751A>T | p.I2251L | Missense | 8/19 | - |
9-79324955-C-G | PRUNE2 | c.2235G>C | p.M745I | Missense | 8/19 | - |
9-79324955-C-T | PRUNE2 | c.2235G>A | p.M745I | Missense | 8/19 | - |
9-79324955-C-A | PRUNE2 | c.2235G>T | p.M745I | Missense | 8/19 | - |
9-79438584-T-C | PRUNE2 | c.720A>G | p.I240M | Missense | 6/19 | - |
9-79465455-C-T | PRUNE2 | c.268G>A | p.D90N | Missense | 3/19 | - |
9-79908273-G-A | VPS13A | c.3356G>A | p.G1119E | Missense | 32/72 | - |
9-86495276-C-T | KIF27 | c.2579G>A | p.R860Q | Missense | 11/18 | - |
9-90345935-A-C | CTSL | c.915A>C | p.E305D | Missense | 8/8 | - |
9-90345935-A-T | CTSL | c.915A>T | p.E305D | Missense | 8/8 | - |
9-95480915-G-A | BICD2 | c.2012C>T | p.A671V | Missense | 5/7 | - |
9-105767074-C-T | CYLC2 | c.278C>T | p.A93V | Missense | 4/8 | - |
9-107379798-A-G | OR13C9 | c.688T>C | p.S230P | Missense | 1/1 | - |
9-108230553-G-T | FSD1L | c.287G>T | p.S96I | Missense | 4/14 | - |
9-111678508-C-T | ELP1 | c.934G>A | p.E312K | Missense | 10/37 | - |
9-113013717-G-A | TXN | c.50C>T | p.A17V | Missense | 2/5 | - |
9-114304105-G-A | ZNF483 | c.890G>A | p.G297D | Missense | 6/6 | - |
9-114341122-G-A | PTGR1 | c.605C>T | p.T202I | Missense | 7/10 | - |
9-114341221-A-G | PTGR1 | c.506T>C | p.V169A | Missense | 7/10 | - |
9-116187302-C-G | C9orf43 | c.811C>G | p.P271A | Missense | 9/14 | - |
9-117354865-A-C | ATP6V1G1 | c.116A>C | p.E39A | Missense | 2/3 | - |
9-119460579-G-T | TRIM32 | c.558G>T | p.Q186H | Missense | 2/2 | - |
9-119460579-G-C | TRIM32 | c.558G>C | p.Q186H | Missense | 2/2 | - |
9-123586913-T-G | PSMD5 | c.865A>C | p.I289L | Missense | 7/10 | - |
9-124088908-C-G | GSN | c.1535C>G | p.T512S | Missense | 13/18 | - |
9-124088907-A-T | GSN | c.1534A>T | p.T512S | Missense | 13/18 | - |
9-124089635-A-G | GSN | c.1637A>G | p.K546R | Missense | 14/18 | - |
9-124089692-C-T | GSN | c.1694C>T | p.T565M | Missense | 14/18 | - |
9-125782737-A-G | RABGAP1 | c.1793A>G | p.K598R | Missense | 13/26 | - |
9-129854069-G-A | ANGPTL2 | c.1162C>T | p.P388S | Missense | 4/5 | - |
9-129854107-C-T | ANGPTL2 | c.1124G>A | p.R375H | Missense | 4/5 | - |
9-130656852-C-T | ST6GALNAC6 | c.236G>A | p.R79Q | Missense | 4/7 | - |
9-130889953-C-G | PTGES2 | c.44G>C | p.G15A | Missense | 1/7 | - |
9-131285907-C-T | GLE1 | c.679C>T | p.R227C | Missense | 6/16 | - |
9-131343207-G-A | SPTAN1 | c.1330G>A | p.V444I | Missense | 11/57 | - |
9-136217563-G-A | RPL7A | c.607G>A | p.A203T | Missense | 6/8 | - |
9-138395969-A-G | MRPS2 | c.881A>G | p.H294R | Missense | 4/4 | - |
9-138439806-C-T | OBP2A | c.367C>T | p.R123C | Missense | 4/7 | - |
9-139244192-G-A | GPSM1 | c.1432G>A | p.V478I | Missense | 11/14 | - |
9-139282289-T-C | SNAPC4 | c.1135A>G | p.M379V | Missense | 11/23 | - |
9-139702095-C-T | CCDC183 | c.1558C>T | p.R520W | Missense | 14/14 | - |
9-139733736-C-T | RABL6 | c.1556C>T | p.P519L | Missense | 12/15 | - |
9-139934887-G-A | NPDC1 | c.710C>T | p.P237L | Missense | 7/9 | - |
9-139992294-T-G | MAN1B1 | c.635T>G | p.V212G | Missense | 5/13 | - |
9-140095048-G-A | TPRN | c.116C>T | p.P39L | Missense | 1/4 | - |
9-140173320-C-A | TOR4A | c.179C>A | p.P60Q | Missense | 2/2 | - |
9-140396121-A-G | PNPLA7 | c.1532T>C | p.V511A | Missense | 15/35 | - |
9-140441302-C-A | PNPLA7 | c.253G>T | p.G85C | Missense | 4/35 | - |
9-140772434-G-A | CACNA1B | c.49G>A | p.G17S | Missense | 1/47 | - |
10-1043174-A-G | GTPBP4 | c.487A>G | p.T163A | Missense | 5/17 | - |
10-1279718-C-G | ADARB2 | c.1431G>C | p.E477D | Missense | 6/10 | - |
10-1279718-C-A | ADARB2 | c.1431G>T | p.E477D | Missense | 6/10 | - |
10-5435783-G-T | TUBAL3 | c.1038C>A | p.H346Q | Missense | 4/4 | - |
10-5435783-G-C | TUBAL3 | c.1038C>G | p.H346Q | Missense | 4/4 | - |
10-5931230-C-G | ANKRD16 | c.88G>C | p.G30R | Missense | 1/8 | - |
10-11505743-G-A | USP6NL | c.1184C>T | p.P395L | Missense | 15/15 | - |
10-11912065-C-G | PROSER2 | c.968C>G | p.P323R | Missense | 4/4 | - |
10-12595329-A-G | CAMK1D | c.198A>G | p.I66M | Missense | 2/11 | - |
10-18270341-A-G | SLC39A12 | c.1025A>G | p.Q342R | Missense | 6/13 | - |
10-24922388-T-C | ARHGAP21 | c.383A>G | p.N128S | Missense | 6/26 | - |
10-26463443-C-T | MYO3A | c.4250C>T | p.T1417I | Missense | 30/35 | - |
10-27057895-T-C | ABI1 | c.605A>G | p.E202G | Missense | 6/11 | - |
10-30315355-T-C | JCAD | c.3722A>G | p.E1241G | Missense | 3/4 | - |
10-30317039-A-G | JCAD | c.2038T>C | p.S680P | Missense | 3/4 | - |
10-31137481-C-T | ZNF438 | c.1853G>A | p.G618D | Missense | 6/7 | - |
10-43318572-T-C | BMS1 | c.3139T>C | p.F1047L | Missense | 20/23 | - |
10-43318574-T-A | BMS1 | c.3141T>A | p.F1047L | Missense | 20/23 | - |
10-43318574-T-G | BMS1 | c.3141T>G | p.F1047L | Missense | 20/23 | - |
10-45480356-G-A | RASSF4 | c.469G>A | p.G157S | Missense | 6/11 | - |
10-46121607-T-C | ZFAND4 | c.1664A>G | p.K555R | Missense | 7/10 | - |
10-50901840-C-T | C10orf53 | c.118C>T | p.H40Y | Missense | 2/3 | - |
10-50901934-A-C | C10orf53 | c.212A>C | p.E71A | Missense | 2/3 | - |
10-61831290-T-C | ANK3 | c.9349A>G | p.I3117V | Missense | 37/44 | - |
10-61831984-G-C | ANK3 | c.8655C>G | p.H2885Q | Missense | 37/44 | - |
10-68688019-A-G | LRRTM3 | c.1345A>G | p.M449V | Missense | 2/3 | - |
10-70661195-G-A | DDX50 | c.55G>A | p.E19K | Missense | 1/15 | - |
10-72434602-C-T | ADAMTS14 | c.373C>T | p.R125W | Missense | 2/22 | - |
10-73832011-C-T | SPOCK2 | c.250G>A | p.D84N | Missense | 4/11 | - |
10-79745881-T-C | POLR3A | c.2938A>G | p.I980V | Missense | 22/31 | - |
10-81927002-C-T | ANXA11 | c.629G>A | p.R210Q | Missense | 6/16 | - |
10-87966145-C-T | GRID1 | c.496G>A | p.V166I | Missense | 3/16 | - |
10-88730271-G-A | ADIRF | c.163G>A | p.D55N | Missense | 3/3 | - |
10-90983509-T-G | LIPA | c.754A>C | p.I252L | Missense | 7/10 | - |
10-90983509-T-A | LIPA | c.754A>T | p.I252L | Missense | 7/10 | - |
10-94654755-A-C | EXOC6 | c.390A>C | p.E130D | Missense | 4/22 | - |
10-94654755-A-T | EXOC6 | c.390A>T | p.E130D | Missense | 4/22 | - |
10-94714427-C-G | EXOC6 | c.1567C>G | p.L523V | Missense | 16/22 | - |
10-97154830-T-C | SORBS1 | c.1225A>G | p.T409A | Missense | 14/33 | - |
10-98369519-G-A | PIK3AP1 | c.2120C>T | p.T707M | Missense | 14/17 | - |
10-99683022-T-C | CRTAC1 | c.557A>G | p.K186R | Missense | 4/15 | - |
10-99696059-C-T | CRTAC1 | c.289G>A | p.V97I | Missense | 3/15 | - |
10-101147692-G-A | CNNM1 | c.2456G>A | p.R819Q | Missense | 8/11 | - |
10-102770514-T-C | PDZD7 | c.2132A>G | p.H711R | Missense | 15/17 | - |
10-102782113-A-T | PDZD7 | c.572T>A | p.V191E | Missense | 5/17 | - |
10-103920505-AG-CC | NOLC1 | c.1396_1397delAGinsCC | p.S466P | Missense | 10/13 | - |
10-104176471-C-T | PSD | c.325G>A | p.A109T | Missense | 2/17 | - |
10-104497484-C-A | SFXN2 | c.934C>A | p.L312I | Missense | 12/12 | - |
10-105038008-A-G | INA | c.1040A>G | p.H347R | Missense | 1/3 | - |
10-105164845-G-C | PDCD11 | c.469G>C | p.G157R | Missense | 5/36 | - |
10-105178380-G-A | PDCD11 | c.2095G>A | p.E699K | Missense | 15/36 | - |
10-105184991-C-T | PDCD11 | c.3014C>T | p.P1005L | Missense | 20/36 | - |
10-106130801-G-A | CFAP58 | c.1079G>A | p.G360E | Missense | 7/18 | - |
10-108337303-A-C | SORCS1 | c.3382T>G | p.L1128V | Missense | 26/26 | - |
10-112572607-G-T | RBM20 | c.2452G>T | p.A818S | Missense | 9/14 | - |
10-114177616-G-C | ACSL5 | c.1231G>C | p.G411R | Missense | 14/21 | - |
10-115489187-A-C | CASP7 | c.800A>C | p.D267A | Missense | 7/7 | - |
10-116014752-G-T | VWA2 | c.206G>T | p.R69M | Missense | 4/14 | - |
10-118434357-C-T | HSPA12A | c.1963G>A | p.A655T | Missense | 12/12 | - |
10-120810725-G-C | EIF3A | c.2305C>G | p.Q769E | Missense | 15/22 | - |
10-124595830-A-G | CUZD1 | c.854T>C | p.I285T | Missense | 6/9 | - |
10-126172791-G-A | LHPP | c.209G>A | p.R70K | Missense | 2/7 | - |
10-129868686-A-G | PTPRE | c.1265A>G | p.D422G | Missense | 14/21 | - |
10-129905239-G-A | MKI67 | c.4865C>T | p.P1622L | Missense | 13/15 | - |
10-134014422-G-A | DPYSL4 | c.1045G>A | p.A349T | Missense | 10/14 | - |
10-134021576-C-T | STK32C | c.1399G>A | p.E467K | Missense | 12/12 | - |
11-433867-G-A | ANO9 | c.152C>T | p.A51V | Missense | 3/23 | - |
11-499066-C-T | RNH1 | c.563G>A | p.R188H | Missense | 6/11 | - |
11-792640-C-T | SLC25A22 | c.500G>A | p.R167Q | Missense | 7/10 | - |
11-1267727-T-C | MUC5B | c.9617T>C | p.I3206T | Missense | 31/49 | - |
11-1775352-C-T | CTSD | c.844G>A | p.G282R | Missense | 7/9 | - |
11-1775352-C-G | CTSD | c.844G>C | p.G282R | Missense | 7/9 | - |
11-4944666-G-A | OR51G1 | c.904C>T | p.R302C | Missense | 1/1 | - |
11-5290899-C-T | HBE1 | c.100G>A | p.V34I | Missense | 2/3 | - |
11-6190854-C-T | OR52B2 | c.703G>A | p.A235T | Missense | 1/1 | - |
11-6231210-G-A | C11orf42 | c.203G>A | p.R68Q | Missense | 2/3 | - |
11-6231378-G-A | C11orf42 | c.371G>A | p.R124H | Missense | 2/3 | - |
11-6459657-G-C | HPX | c.419C>G | p.P140R | Missense | 5/10 | - |
11-6789294-G-C | OR2AG2 | c.895C>G | p.R299G | Missense | 2/2 | - |
11-6789300-C-G | OR2AG2 | c.889G>C | p.V297L | Missense | 2/2 | - |
11-6898789-G-A | OR10A4 | c.911G>A | p.R304Q | Missense | 1/1 | - |
11-7509386-C-T | OLFML1 | c.158C>T | p.T53M | Missense | 2/3 | - |
11-8728736-C-T | DENND2B | c.2467G>A | p.A823T | Missense | 13/20 | - |
11-10483275-A-G | AMPD3 | c.209A>G | p.E70G | Missense | 2/15 | - |
11-17544404-C-G | USH1C | c.946G>C | p.E316Q | Missense | 12/27 | - |
11-34938249-A-C | PDHX | c.47A>C | p.Y16S | Missense | 1/11 | - |
11-34938272-C-G | PDHX | c.70C>G | p.R24G | Missense | 1/11 | - |
11-43427466-C-A | TTC17 | c.1726C>A | p.L576M | Missense | 13/24 | - |
11-45671452-G-A | CHST1 | c.1022C>T | p.T341I | Missense | 4/4 | - |
11-46702070-G-A | ARHGAP1 | c.787C>T | p.L263F | Missense | 9/13 | - |
11-47656268-C-T | MTCH2 | c.325G>A | p.V109I | Missense | 5/13 | - |
11-57069375-A-G | TNKS1BP1 | c.4877T>C | p.V1626A | Missense | 9/12 | - |
11-57069568-T-C | TNKS1BP1 | c.4814A>G | p.H1605R | Missense | 8/12 | - |
11-57076820-T-G | TNKS1BP1 | c.3365A>C | p.Y1122S | Missense | 6/12 | - |
11-57427232-A-G | CLP1 | c.284A>G | p.N95S | Missense | 2/3 | - |
11-57464253-G-A | ZDHHC5 | c.1030G>A | p.D344N | Missense | 10/12 | - |
11-58346953-G-A | ZFP91 | c.199G>A | p.A67T | Missense | 1/11 | - |
11-59420423-C-T | PATL1 | c.1190G>A | p.R397Q | Missense | 10/19 | - |
11-59573986-T-C | MRPL16 | c.590A>G | p.K197R | Missense | 4/4 | - |
11-59857292-G-T | MS4A2 | c.184G>T | p.G62W | Missense | 2/7 | - |
11-60689534-C-T | TMEM109 | c.629C>T | p.A210V | Missense | 4/4 | - |
11-61026652-G-T | VWCE | c.2363C>A | p.T788K | Missense | 20/20 | - |
11-61959636-C-T | SCGB1D1 | c.164C>T | p.A55V | Missense | 2/3 | - |
11-62038448-G-A | SCGB2A2 | c.151G>A | p.D51N | Missense | 2/3 | - |
11-62285571-C-T | AHNAK | c.16318G>A | p.V5440M | Missense | 5/5 | - |
11-62290719-A-G | AHNAK | c.11170T>C | p.S3724P | Missense | 5/5 | - |
11-62290818-C-G | AHNAK | c.11071G>C | p.V3691L | Missense | 5/5 | - |
11-62290818-C-A | AHNAK | c.11071G>T | p.V3691L | Missense | 5/5 | - |
11-62293925-C-A | AHNAK | c.7964G>T | p.G2655V | Missense | 5/5 | - |
11-62294309-C-T | AHNAK | c.7580G>A | p.G2527D | Missense | 5/5 | - |
11-62296535-T-C | AHNAK | c.5354A>G | p.D1785G | Missense | 5/5 | - |
11-62298068-A-G | AHNAK | c.3821T>C | p.V1274A | Missense | 5/5 | - |
11-62397114-T-C | GANAB | c.1780A>G | p.M594V | Missense | 15/24 | - |
11-62397965-C-T | GANAB | c.1399G>A | p.V467I | Missense | 12/24 | - |
11-62474608-G-C | BSCL2 | c.60C>G | p.D20E | Missense | 1/11 | - |
11-62474608-G-T | BSCL2 | c.60C>A | p.D20E | Missense | 1/11 | - |
11-63999987-A-G | DNAJC4 | c.266A>G | p.E89G | Missense | 3/6 | - |
11-64060618-G-T | KCNK4 | c.128G>T | p.R43L | Missense | 2/7 | - |
11-64087269-G-A | PRDX5 | c.235G>A | p.A79T | Missense | 2/6 | - |
11-64527211-A-C | PYGM | c.160T>G | p.F54V | Missense | 1/20 | - |
11-64854812-G-A | ZFPL1 | c.653G>A | p.R218Q | Missense | 7/8 | - |
11-64876836-G-A | VPS51 | c.1528G>A | p.D510N | Missense | 6/10 | - |
11-64882810-G-A | TM7SF2 | c.917G>A | p.G306E | Missense | 8/10 | - |
11-65164362-C-T | FRMD8 | c.674C>T | p.P225L | Missense | 7/11 | - |
11-65305555-G-A | SCYL1 | c.2149G>A | p.D717N | Missense | 16/18 | - |
11-65338363-C-A | ZNRD2 | c.178C>A | p.L60I | Missense | 3/4 | - |
11-65349692-G-C | EHBP1L1 | c.1549G>C | p.G517R | Missense | 9/19 | - |
11-65386284-G-A | PCNX3 | c.1451G>A | p.R484Q | Missense | 6/35 | - |
11-65403651-C-G | PCNX3 | c.5466C>G | p.H1822Q | Missense | 33/35 | - |
11-65416753-C-T | SIPA1 | c.2327C>T | p.T776M | Missense | 10/16 | - |
11-65649682-C-T | CTSW | c.323C>T | p.A108V | Missense | 4/10 | - |
11-66358274-A-C | CCDC87 | c.2213T>G | p.L738R | Missense | 1/1 | - |
11-66360021-C-T | CCDC87 | c.466G>A | p.A156T | Missense | 1/1 | - |
11-67184914-C-A | CARNS1 | c.40C>A | p.P14T | Missense | 3/10 | - |
11-67842185-G-A | CHKA | c.629C>T | p.P210L | Missense | 4/12 | - |
11-68512543-A-G | TESMIN | c.667T>C | p.C223R | Missense | 4/10 | - |
11-70118489-G-A | PPFIA1 | c.211G>A | p.V71I | Missense | 2/28 | - |
11-70271499-T-G | CTTN | c.1019T>G | p.V340G | Missense | 13/18 | - |
11-75298468-A-C | MAP6 | c.2078T>G | p.V693G | Missense | 4/4 | - |
11-75298917-C-G | MAP6 | c.1629G>C | p.M543I | Missense | 4/4 | - |
11-75298917-C-T | MAP6 | c.1629G>A | p.M543I | Missense | 4/4 | - |
11-75298917-C-A | MAP6 | c.1629G>T | p.M543I | Missense | 4/4 | - |
11-75316901-T-C | MAP6 | c.1268A>G | p.D423G | Missense | 3/4 | - |
11-75694476-A-G | UVRAG | c.745A>G | p.N249D | Missense | 8/15 | - |
11-76890818-G-A | MYO7A | c.2405G>A | p.R802H | Missense | 21/49 | - |
11-77412755-C-T | RSF1 | c.1519G>A | p.A507T | Missense | 6/16 | - |
11-77921746-G-A | USP35 | c.2845G>A | p.D949N | Missense | 10/11 | - |
11-85396271-C-G | CCDC89 | c.903G>C | p.E301D | Missense | 1/1 | - |
11-85396271-C-A | CCDC89 | c.903G>T | p.E301D | Missense | 1/1 | - |
11-93148179-T-C | DEUP1 | c.1537T>C | p.C513R | Missense | 13/14 | - |
11-93803617-C-T | HEPHL1 | c.1141C>T | p.R381C | Missense | 6/20 | - |
11-94352943-T-C | PIWIL4 | c.2186T>C | p.I729T | Missense | 18/20 | - |
11-94760037-G-A | KDM4E | c.1316G>A | p.R439H | Missense | 1/1 | - |
11-96117467-G-C | CCDC82 | c.445C>G | p.Q149E | Missense | 4/10 | - |
11-96125196-T-G | JRKL | c.1383T>G | p.S461R | Missense | 2/2 | - |
11-96125196-T-A | JRKL | c.1383T>A | p.S461R | Missense | 2/2 | - |
11-96125194-A-C | JRKL | c.1381A>C | p.S461R | Missense | 2/2 | - |
11-100061865-A-G | CNTN5 | c.1588A>G | p.I530V | Missense | 14/25 | - |
11-102643636-C-A | MMP10 | c.1168G>T | p.A390S | Missense | 8/10 | - |
11-107427543-C-T | ALKBH8 | c.316G>A | p.V106M | Missense | 3/12 | - |
11-108032233-C-A | NPAT | c.3580G>T | p.G1194C | Missense | 17/18 | - |
11-111624270-T-C | PPP2R1B | c.1061A>G | p.K354R | Missense | 9/15 | - |
11-118307316-C-G | KMT2A | c.89C>G | p.A30G | Missense | 1/36 | - |
11-118656770-G-T | DDX6 | c.191C>A | p.T64N | Missense | 2/14 | - |
11-118922814-T-C | HYOU1 | c.1193A>G | p.K398R | Missense | 11/26 | - |
11-119183093-C-T | MCAM | c.907G>A | p.G303R | Missense | 8/16 | - |
11-119183093-C-G | MCAM | c.907G>C | p.G303R | Missense | 8/16 | - |
11-119185677-T-C | MCAM | c.266A>G | p.E89G | Missense | 3/16 | - |
11-119229758-T-C | USP2 | c.1148A>G | p.N383S | Missense | 6/13 | - |
11-120833194-G-C | GRIK4 | c.2070G>C | p.M690I | Missense | 18/21 | - |
11-120833194-G-A | GRIK4 | c.2070G>A | p.M690I | Missense | 18/21 | - |
11-120833194-G-T | GRIK4 | c.2070G>T | p.M690I | Missense | 18/21 | - |
11-122795644-C-G | JHY | c.904C>G | p.Q302E | Missense | 4/9 | - |
11-124252963-A-T | OR8B2 | c.277T>A | p.S93T | Missense | 2/2 | - |
11-124623847-T-C | ESAM | c.868A>G | p.I290V | Missense | 7/7 | - |
11-124791314-T-C | HEPACAM | c.971A>G | p.N324S | Missense | 7/7 | - |
11-124951719-G-A | SLC37A2 | c.802G>A | p.G268S | Missense | 9/18 | - |
11-134029825-C-T | NCAPD3 | c.3829G>A | p.G1277R | Missense | 29/35 | - |
11-134029825-C-G | NCAPD3 | c.3829G>C | p.G1277R | Missense | 29/35 | - |
12-176140-C-G | IQSEC3 | c.92C>G | p.T31S | Missense | 1/14 | - |
12-520944-G-A | CCDC77 | c.70G>A | p.V24I | Missense | 4/13 | - |
12-1137217-A-G | ERC1 | c.148A>G | p.S50G | Missense | 2/19 | - |
12-2908330-C-G | FKBP4 | c.591C>G | p.N197K | Missense | 5/10 | - |
12-3728529-C-T | CRACR2A | c.1942G>A | p.G648R | Missense | 18/20 | - |
12-3728529-C-G | CRACR2A | c.1942G>C | p.G648R | Missense | 18/20 | - |
12-6646375-A-G | GAPDH | c.436A>G | p.I146V | Missense | 6/9 | - |
12-8667856-T-G | CLEC4D | c.53T>G | p.L18R | Missense | 2/6 | - |
12-13128263-C-G | HEBP1 | c.549G>C | p.E183D | Missense | 4/4 | - |
12-13128263-C-A | HEBP1 | c.549G>T | p.E183D | Missense | 4/4 | - |
12-15102799-C-G | ARHGDIB | c.202G>C | p.V68L | Missense | 3/6 | - |
12-16510615-G-A | MGST1 | c.203G>A | p.R68K | Missense | 3/4 | - |
12-26834858-G-A | ITPR2 | c.1358C>T | p.A453V | Missense | 13/57 | - |
12-32137381-C-G | RESF1 | c.3492C>G | p.D1164E | Missense | 4/6 | - |
12-32137381-C-A | RESF1 | c.3492C>A | p.D1164E | Missense | 4/6 | - |
12-40422173-G-C | SLC2A13 | c.855C>G | p.N285K | Missense | 3/10 | - |
12-40422173-G-T | SLC2A13 | c.855C>A | p.N285K | Missense | 3/10 | - |
12-49994291-T-C | FAM186B | c.1132A>G | p.M378V | Missense | 4/7 | - |
12-50190160-C-T | NCKAP5L | c.1483G>A | p.G495S | Missense | 8/13 | - |
12-50727811-C-G | FAM186A | c.6579G>C | p.M2193I | Missense | 5/8 | - |
12-50727811-C-A | FAM186A | c.6579G>T | p.M2193I | Missense | 5/8 | - |
12-50744129-C-G | FAM186A | c.6486G>C | p.R2162S | Missense | 4/8 | - |
12-50744129-C-A | FAM186A | c.6486G>T | p.R2162S | Missense | 4/8 | - |
12-51068409-G-A | DIP2B | c.793G>A | p.D265N | Missense | 6/38 | - |
12-52961980-C-T | KRT74 | c.1328G>A | p.R443H | Missense | 7/9 | - |
12-52962050-G-A | KRT74 | c.1258C>T | p.R420W | Missense | 7/9 | - |
12-52962167-T-C | KRT74 | c.1141A>G | p.S381G | Missense | 7/9 | - |
12-52966249-T-A | KRT74 | c.674A>T | p.D225V | Missense | 2/9 | - |
12-52994896-A-G | KRT72 | c.341T>C | p.M114T | Missense | 1/9 | - |
12-53293585-C-A | KRT8 | c.955G>T | p.A319S | Missense | 5/8 | - |
12-53497402-A-G | SOAT2 | c.41A>G | p.E14G | Missense | 1/15 | - |
12-53663433-G-C | ESPL1 | c.707G>C | p.R236T | Missense | 3/31 | - |
12-56532580-C-T | ESYT1 | c.2462C>T | p.P821L | Missense | 23/31 | - |
12-57556220-G-C | LRP1 | c.2323G>C | p.A775P | Missense | 14/89 | - |
12-57602950-C-G | LRP1 | c.12230C>G | p.T4077R | Missense | 79/89 | - |
12-58128378-C-G | AGAP2 | c.1312G>C | p.E438Q | Missense | 3/19 | - |
12-60168732-G-T | SLC16A7 | c.656G>T | p.S219I | Missense | 5/6 | - |
12-64815144-A-G | XPOT | c.973A>G | p.I325V | Missense | 9/25 | - |
12-69083373-G-A | NUP107 | c.161G>A | p.R54Q | Missense | 3/28 | - |
12-75601481-G-T | KCNC2 | c.283C>A | p.H95N | Missense | 2/5 | - |
12-83359384-C-T | TMTC2 | c.1730C>T | p.T577M | Missense | 6/12 | - |
12-85450426-G-A | LRRIQ1 | c.1855G>A | p.E619K | Missense | 8/27 | - |
12-93175790-G-A | EEA1 | c.3272C>T | p.S1091L | Missense | 23/29 | - |
12-93196332-C-T | EEA1 | c.2518G>A | p.E840K | Missense | 19/29 | - |
12-93245979-G-A | EEA1 | c.614C>T | p.T205I | Missense | 8/29 | - |
12-101702003-T-C | UTP20 | c.2036T>C | p.L679S | Missense | 18/62 | - |
12-101777351-G-A | UTP20 | c.7960G>A | p.V2654I | Missense | 60/62 | - |
12-105150838-G-A | CHST11 | c.316G>A | p.D106N | Missense | 3/3 | - |
12-105534127-A-G | WASHC4 | c.1508A>G | p.H503R | Missense | 16/33 | - |
12-105759610-G-T | C12orf75 | c.97G>T | p.D33Y | Missense | 3/6 | - |
12-106632873-A-C | CKAP4 | c.1738T>G | p.L580V | Missense | 2/2 | - |
12-106633557-G-C | CKAP4 | c.1054C>G | p.L352V | Missense | 2/2 | - |
12-108169293-C-A | ASCL4 | c.301C>A | p.P100T | Missense | 1/1 | - |
12-108954862-G-C | SART3 | c.69C>G | p.D23E | Missense | 1/19 | - |
12-108954862-G-T | SART3 | c.69C>A | p.D23E | Missense | 1/19 | - |
12-111291296-A-G | CCDC63 | c.97A>G | p.K33E | Missense | 3/12 | - |
12-112481521-C-T | NAA25 | c.2158G>A | p.V720I | Missense | 18/24 | - |
12-113285527-C-A | RPH3A | c.110C>A | p.P37H | Missense | 5/22 | - |
12-113321161-G-C | RPH3A | c.1390G>C | p.V464L | Missense | 16/22 | - |
12-113440906-G-A | OAS2 | c.1178G>A | p.R393Q | Missense | 6/10 | - |
12-113624763-C-T | RITA1 | c.212C>T | p.S71L | Missense | 3/4 | - |
12-117691500-C-T | NOS1 | c.2591G>A | p.G864D | Missense | 17/29 | - |
12-117705934-T-G | NOS1 | c.1855A>C | p.M619L | Missense | 11/29 | - |
12-117749339-A-C | NOS1 | c.784T>G | p.F262V | Missense | 3/29 | - |
12-120907309-T-A | SRSF9 | c.104A>T | p.Y35F | Missense | 1/4 | - |
12-122186240-G-A | TMEM120B | c.197G>A | p.R66H | Missense | 3/12 | - |
12-122669310-G-C | LRRC43 | c.395G>C | p.R132P | Missense | 2/12 | - |
12-122864920-G-A | CLIP1 | c.80C>T | p.T27M | Missense | 2/26 | - |
12-123661295-T-C | MPHOSPH9 | c.2396A>G | p.H799R | Missense | 16/24 | - |
12-123706359-G-C | MPHOSPH9 | c.432C>G | p.N144K | Missense | 5/24 | - |
12-123706359-G-T | MPHOSPH9 | c.432C>A | p.N144K | Missense | 5/24 | - |
12-125561151-A-G | AACS | c.352A>G | p.I118V | Missense | 3/18 | - |
12-133277860-G-A | PXMP2 | c.424G>A | p.A142T | Missense | 4/5 | - |
12-133294371-A-G | PGAM5 | c.572A>G | p.K191R | Missense | 4/6 | - |
13-19748038-C-T | TUBA3C | c.1318G>A | p.V440M | Missense | 5/5 | - |
13-19751245-T-C | TUBA3C | c.878A>G | p.N293S | Missense | 4/5 | - |
13-19753484-C-G | TUBA3C | c.223G>C | p.V75L | Missense | 2/5 | - |
13-20425911-C-A | ZMYM5 | c.410G>T | p.C137F | Missense | 3/8 | - |
13-20797262-C-T | GJB6 | c.358G>A | p.D120N | Missense | 5/5 | - |
13-21715103-G-A | SAP18 | c.208G>A | p.V70I | Missense | 2/4 | - |
13-25264761-C-T | ATP12A | c.701C>T | p.T234M | Missense | 7/23 | - |
13-28004098-T-C | GTF3A | c.394T>C | p.Y132H | Missense | 3/9 | - |
13-30110294-T-C | SLC7A1 | c.32A>G | p.Q11R | Missense | 3/13 | - |
13-31231872-T-C | USPL1 | c.1658T>C | p.I553T | Missense | 9/9 | - |
13-31232430-C-G | USPL1 | c.2216C>G | p.S739C | Missense | 9/9 | - |
13-31713011-CC-AT | HSPH1 | c.2114_2115delGGinsAT | p.R705H | Missense | 16/18 | - |
13-32332484-G-A | RXFP2 | c.184G>A | p.A62T | Missense | 2/18 | - |
13-41814531-C-T | MTRF1 | c.736G>A | p.G246S | Missense | 6/10 | - |
13-41894893-A-G | NAA16 | c.335A>G | p.D112G | Missense | 4/20 | - |
13-42874690-G-A | AKAP11 | c.1808G>A | p.R603H | Missense | 8/13 | - |
13-49848469-G-C | CDADC1 | c.1043G>C | p.G348A | Missense | 6/10 | - |
13-80911504-T-C | SPRY2 | c.337A>G | p.T113A | Missense | 2/2 | - |
13-100511247-G-A | CLYBL | c.382G>A | p.V128I | Missense | 3/9 | - |
13-103401347-G-A | CCDC168 | c.1700C>T | p.P567L | Missense | 4/4 | - |
13-103528048-C-T | BIVM-ERCC5 | c.4718C>T | p.A1573V | Missense | 23/23 | - |
13-111156250-G-A | COL4A2 | c.4195G>A | p.V1399I | Missense | 44/48 | - |
13-111176355-C-T | RAB20 | c.362G>A | p.G121E | Missense | 2/2 | - |
13-111274631-GTG-ATC | NAXD | c.115_117delGTGinsATC | p.V39I | Missense | 2/10 | - |
13-111335406-C-T | CARS2 | c.647G>A | p.G216E | Missense | 6/15 | - |
13-111335479-T-C | CARS2 | c.574A>G | p.N192D | Missense | 6/15 | - |
14-20876438-G-A | TEP1 | c.161C>T | p.T54M | Missense | 2/55 | - |
14-20925270-G-A | APEX1 | c.560G>A | p.R187H | Missense | 5/5 | - |
14-21862289-G-A | CHD8 | c.5665C>T | p.R1889C | Missense | 32/38 | - |
14-23346317-G-A | LRP10 | c.1723G>A | p.A575T | Missense | 7/7 | - |
14-24522940-C-G | CARMIL3 | c.63C>G | p.S21R | Missense | 2/40 | - |
14-24522940-C-A | CARMIL3 | c.63C>A | p.S21R | Missense | 2/40 | - |
14-24522938-A-C | CARMIL3 | c.61A>C | p.S21R | Missense | 2/40 | - |
14-24546811-T-G | CPNE6 | c.1546T>G | p.S516A | Missense | 16/17 | - |
14-24586567-G-A | DCAF11 | c.376G>A | p.A126T | Missense | 4/15 | - |
14-24606543-A-G | PSME1 | c.149A>G | p.N50S | Missense | 4/11 | - |
14-24798433-T-A | ADCY4 | c.1358A>T | p.E453V | Missense | 10/25 | - |
14-31099738-A-G | SCFD1 | c.188A>G | p.K63R | Missense | 3/25 | - |
14-31762635-T-C | HEATR5A | c.6017A>G | p.K2006R | Missense | 36/36 | - |
14-31763142-T-G | HEATR5A | c.5788A>C | p.I1930L | Missense | 35/36 | - |
14-31763142-T-A | HEATR5A | c.5788A>T | p.I1930L | Missense | 35/36 | - |
14-39649802-G-A | PNN | c.889G>A | p.V297M | Missense | 9/9 | - |
14-39901012-G-A | FBXO33 | c.355C>T | p.P119S | Missense | 1/4 | - |
14-52481922-G-T | NID2 | c.3100C>A | p.P1034T | Missense | 15/22 | - |
14-53385853-A-T | FERMT2 | c.379T>A | p.C127S | Missense | 3/15 | - |
14-53385852-C-G | FERMT2 | c.380G>C | p.C127S | Missense | 3/15 | - |
14-56108429-A-T | KTN1 | c.2123A>T | p.K708I | Missense | 18/44 | - |
14-57700585-T-G | EXOC5 | c.731A>C | p.N244T | Missense | 9/18 | - |
14-57948291-G-A | CCDC198 | c.481C>T | p.R161C | Missense | 4/6 | - |
14-59950676-A-C | L3HYPDH | c.359T>G | p.L120R | Missense | 1/5 | - |
14-60194357-C-A | RTN1 | c.1045G>T | p.G349C | Missense | 3/9 | - |
14-60212912-C-T | RTN1 | c.529G>A | p.E177K | Missense | 2/9 | - |
14-61788875-C-T | PRKCH | c.56C>T | p.A19V | Missense | 1/14 | - |
14-64457747-C-G | SYNE2 | c.2560C>G | p.Q854E | Missense | 21/116 | - |
14-64494308-C-G | SYNE2 | c.6511C>G | p.L2171V | Missense | 43/116 | - |
14-64519392-A-C | SYNE2 | c.8761A>C | p.K2921Q | Missense | 48/116 | - |
14-64898328-A-G | MTHFD1 | c.1390A>G | p.I464V | Missense | 14/28 | - |
14-68123282-T-C | VTI1B | c.391A>G | p.M131V | Missense | 4/6 | - |
14-68353784-G-C | RAD51B | c.619G>C | p.V207L | Missense | 7/11 | - |
14-69369274-C-T | ACTN1 | c.682G>A | p.V228I | Missense | 8/22 | - |
14-70038670-C-T | CCDC177 | c.1670G>A | p.R557Q | Missense | 2/2 | - |
14-70418985-C-T | SMOC1 | c.230C>T | p.P77L | Missense | 2/12 | - |
14-71109153-C-G | TTC9 | c.307C>G | p.P103A | Missense | 1/3 | - |
14-72976936-G-A | RGS6 | c.1040G>A | p.R347Q | Missense | 14/18 | - |
14-74036216-A-G | ACOT2 | c.272A>G | p.E91G | Missense | 1/3 | - |
14-77229472-A-G | VASH1 | c.308A>G | p.K103R | Missense | 1/7 | - |
14-77929028-T-C | AHSA1 | c.398T>C | p.V133A | Missense | 4/9 | - |
14-86088238-C-T | FLRT2 | c.380C>T | p.A127V | Missense | 2/2 | - |
14-91772264-C-A | CCDC88C | c.3202G>T | p.A1068S | Missense | 19/30 | - |
14-91780445-G-A | CCDC88C | c.1715C>T | p.S572L | Missense | 15/30 | - |
14-93398717-C-T | CHGA | c.811C>T | p.R271W | Missense | 7/8 | - |
14-93399011-G-A | CHGA | c.1105G>A | p.D369N | Missense | 7/8 | - |
14-93649713-T-C | MOAP1 | c.875A>G | p.Q292R | Missense | 3/3 | - |
14-93649990-C-T | MOAP1 | c.598G>A | p.V200I | Missense | 3/3 | - |
14-94394818-G-T | FAM181A | c.187G>T | p.A63S | Missense | 2/2 | - |
14-102898363-C-T | TECPR2 | c.1315C>T | p.P439S | Missense | 8/20 | - |
14-103574815-G-A | EXOC3L4 | c.1937G>A | p.R646Q | Missense | 10/11 | - |
14-104194228-A-G | ZFYVE21 | c.335A>G | p.K112R | Missense | 3/7 | - |
14-104452645-T-C | TDRD9 | c.1103T>C | p.M368T | Missense | 8/36 | - |
14-105643046-C-G | NUDT14 | c.253G>C | p.G85R | Missense | 4/5 | - |
15-29561869-T-G | NSMCE3 | c.41A>C | p.Q14P | Missense | 1/1 | - |
15-32744768-G-A | GOLGA8O | c.233C>T | p.P78L | Missense | 4/19 | - |
15-32925302-G-A | ARHGAP11A | c.1228G>A | p.V410I | Missense | 9/12 | - |
15-33445809-C-A | FMN1 | c.1307G>T | p.G436V | Missense | 4/21 | - |
15-38228620-G-T | TMCO5A | c.96G>T | p.Q32H | Missense | 3/12 | - |
15-38228620-G-C | TMCO5A | c.96G>C | p.Q32H | Missense | 3/12 | - |
15-40655845-C-G | DISP2 | c.139C>G | p.P47A | Missense | 2/8 | - |
15-41991300-A-C | MGA | c.2131A>C | p.I711L | Missense | 5/24 | - |
15-41991300-A-T | MGA | c.2131A>T | p.I711L | Missense | 5/24 | - |
15-42149800-T-C | SPTBN5 | c.8335A>G | p.K2779E | Missense | 50/68 | - |
15-42168400-C-T | SPTBN5 | c.4034G>A | p.R1345H | Missense | 21/68 | - |
15-42169007-G-C | SPTBN5 | c.3851C>G | p.T1284R | Missense | 19/68 | - |
15-42171483-G-A | SPTBN5 | c.3157C>T | p.H1053Y | Missense | 16/68 | - |
15-42174812-G-T | SPTBN5 | c.2017C>A | p.Q673K | Missense | 10/68 | - |
15-42235316-C-T | EHD4 | c.460G>A | p.V154I | Missense | 3/6 | - |
15-42983572-G-A | STARD9 | c.9796G>A | p.G3266S | Missense | 23/33 | - |
15-43817500-A-G | MAP1A | c.3829A>G | p.T1277A | Missense | 4/6 | - |
15-43818926-C-T | MAP1A | c.5255C>T | p.A1752V | Missense | 4/6 | - |
15-44849698-G-A | EIF3J | c.421G>A | p.A141T | Missense | 6/8 | - |
15-45661601-G-A | GATM | c.407C>T | p.T136M | Missense | 3/9 | - |
15-52060519-C-G | TMOD2 | c.187C>G | p.P63A | Missense | 3/10 | - |
15-57745898-T-C | CGNL1 | c.2072T>C | p.M691T | Missense | 7/19 | - |
15-57820861-A-G | CGNL1 | c.3049A>G | p.M1017V | Missense | 13/19 | - |
15-57838308-T-G | CGNL1 | c.3644T>G | p.V1215G | Missense | 18/19 | - |
15-59806496-G-T | FAM81A | c.659G>T | p.G220V | Missense | 7/9 | - |
15-62174893-G-C | VPS13C | c.9526C>G | p.R3176G | Missense | 69/85 | - |
15-62207911-A-G | VPS13C | c.8366T>C | p.I2789T | Missense | 61/85 | - |
15-62246670-T-G | VPS13C | c.4249A>C | p.I1417L | Missense | 38/85 | - |
15-62360366-C-G | C2CD4A | c.554C>G | p.P185R | Missense | 2/2 | - |
15-63009832-G-A | TLN2 | c.2821G>A | p.A941T | Missense | 21/56 | - |
15-63092900-G-C | TLN2 | c.6409G>C | p.E2137Q | Missense | 47/56 | - |
15-64275867-C-T | DAPK2 | c.179G>A | p.R60Q | Missense | 3/12 | - |
15-65684226-G-A | IGDCC4 | c.2216C>T | p.P739L | Missense | 12/20 | - |
15-65684513-C-T | IGDCC4 | c.2081G>A | p.R694Q | Missense | 11/20 | - |
15-65851028-G-A | HACD3 | c.380G>A | p.R127H | Missense | 5/11 | - |
15-67528778-A-T | AAGAB | c.329T>A | p.M110K | Missense | 3/10 | - |
15-68653946-C-T | ITGA11 | c.454G>A | p.V152M | Missense | 5/30 | - |
15-72286923-C-T | MYO9A | c.1474G>A | p.V492M | Missense | 10/42 | - |
15-72338423-G-A | MYO9A | c.482C>T | p.T161I | Missense | 2/42 | - |
15-72954796-G-C | GOLGA6B | c.1051G>C | p.V351L | Missense | 11/18 | - |
15-72954796-G-T | GOLGA6B | c.1051G>T | p.V351L | Missense | 11/18 | - |
15-72954848-G-A | GOLGA6B | c.1103G>A | p.R368Q | Missense | 11/18 | - |
15-73843370-A-G | REC114 | c.425A>G | p.Q142R | Missense | 4/6 | - |
15-75969335-C-T | CSPG4 | c.5525G>A | p.R1842Q | Missense | 10/10 | - |
15-78454050-T-G | IDH3A | c.417T>G | p.D139E | Missense | 5/11 | - |
15-78461324-C-T | IDH3A | c.1078C>T | p.R360C | Missense | 11/11 | - |
15-78562867-T-C | DNAJA4 | c.161T>C | p.V54A | Missense | 2/7 | - |
15-78572717-A-G | DNAJA4 | c.1109A>G | p.N370S | Missense | 7/7 | - |
15-79089098-C-T | ADAMTS7 | c.653G>A | p.R218H | Missense | 4/24 | - |
15-79606186-G-A | TMED3 | c.256G>A | p.D86N | Missense | 2/3 | - |
15-84700108-C-T | ADAMTSL3 | c.4678C>T | p.R1560C | Missense | 28/30 | - |
15-90118867-C-T | TICRR | c.50C>T | p.A17V | Missense | 1/22 | - |
15-90177033-G-A | KIF7 | c.2476C>T | p.R826W | Missense | 12/19 | - |
15-101718402-T-A | CHSY1 | c.1600A>T | p.I534L | Missense | 3/3 | - |
15-101718950-T-C | CHSY1 | c.1052A>G | p.K351R | Missense | 3/3 | - |
15-101816797-G-C | SELENOS | c.160C>G | p.R54G | Missense | 2/6 | - |
15-102264476-C-A | TARS3 | c.115G>T | p.A39S | Missense | 1/19 | - |
16-216367-G-T | HBM | c.193G>T | p.A65S | Missense | 2/3 | - |
16-256119-C-T | LUC7L | c.394G>A | p.E132K | Missense | 5/10 | - |
16-597250-G-A | CAPN15 | c.412G>A | p.E138K | Missense | 4/14 | - |
16-716270-C-T | WDR90 | c.4660C>T | p.P1554S | Missense | 37/41 | - |
16-816464-A-G | MSLN | c.1204A>G | p.N402D | Missense | 13/18 | - |
16-1748853-G-A | JPT2 | c.427G>A | p.G143S | Missense | 5/5 | - |
16-1877558-G-A | FAHD1 | c.328G>A | p.D110N | Missense | 1/1 | - |
16-1995589-C-T | RPL3L | c.1078G>A | p.V360M | Missense | 9/10 | - |
16-2086427-G-A | SLC9A3R2 | c.517G>A | p.G173S | Missense | 3/7 | - |
16-2230928-G-A | CASKIN1 | c.2441C>T | p.T814I | Missense | 18/20 | - |
16-2235026-G-A | CASKIN1 | c.1250C>T | p.T417M | Missense | 13/20 | - |
16-2259955-G-A | BRICD5 | c.434C>T | p.S145F | Missense | 4/6 | - |
16-2301527-A-T | ECI1 | c.41T>A | p.L14Q | Missense | 1/7 | - |
16-2546318-C-T | TBC1D24 | c.169C>T | p.R57C | Missense | 2/8 | - |
16-2946698-C-G | FLYWCH2 | c.248C>G | p.T83S | Missense | 3/4 | - |
16-2946697-A-T | FLYWCH2 | c.247A>T | p.T83S | Missense | 3/4 | - |
16-3486996-C-T | ZNF597 | c.703G>A | p.V235I | Missense | 4/4 | - |
16-3606938-C-G | NLRC3 | c.2157G>C | p.K719N | Missense | 8/21 | - |
16-3712016-G-T | TRAP1 | c.1912C>A | p.L638M | Missense | 16/18 | - |
16-4828087-C-T | SEPTIN12 | c.875G>A | p.R292H | Missense | 9/10 | - |
16-8729106-G-A | METTL22 | c.637G>A | p.G213R | Missense | 5/11 | - |
16-8729106-G-C | METTL22 | c.637G>C | p.G213R | Missense | 5/11 | - |
16-9858502-C-G | GRIN2A | c.2899G>C | p.V967L | Missense | 13/13 | - |
16-9858502-C-A | GRIN2A | c.2899G>T | p.V967L | Missense | 13/13 | - |
16-10788294-G-A | TEKT5 | c.437C>T | p.S146L | Missense | 1/7 | - |
16-15808876-C-G | MYH11 | c.5676G>C | p.E1892D | Missense | 40/41 | - |
16-15808876-C-A | MYH11 | c.5676G>T | p.E1892D | Missense | 40/41 | - |
16-19471571-G-A | TMC5 | c.1063G>A | p.A355T | Missense | 6/22 | - |
16-21974134-C-A | UQCRC2 | c.442C>A | p.R148S | Missense | 6/14 | - |
16-22826241-T-C | HS3ST2 | c.310T>C | p.S104P | Missense | 1/2 | - |
16-24202451-C-A | PRKCB | c.1763C>A | p.P588H | Missense | 16/17 | - |
16-24788645-T-G | TNRC6A | c.555T>G | p.N185K | Missense | 5/25 | - |
16-27772880-G-A | KATNIP | c.3778G>A | p.E1260K | Missense | 19/28 | - |
16-30199805-G-A | CORO1A | c.1189G>A | p.V397I | Missense | 10/11 | - |
16-30566747-G-A | ZNF764 | c.992C>T | p.A331V | Missense | 3/3 | - |
16-30581676-C-A | ZNF688 | c.392G>T | p.S131I | Missense | 3/3 | - |
16-30753135-G-A | TMEM265 | c.71G>A | p.R24H | Missense | 2/3 | - |
16-31089465-C-T | ZNF646 | c.1820C>T | p.T607I | Missense | 2/3 | - |
16-47697618-A-G | PHKB | c.2309A>G | p.Y770C | Missense | 24/31 | - |
16-56704429-G-A | MT1H | c.40G>A | p.A14T | Missense | 2/3 | - |
16-57201066-T-G | PSME3IP1 | c.421A>C | p.I141L | Missense | 5/7 | - |
16-57201066-T-A | PSME3IP1 | c.421A>T | p.I141L | Missense | 5/7 | - |
16-57493600-G-A | COQ9 | c.835G>A | p.D279N | Missense | 7/9 | - |
16-57493629-G-C | COQ9 | c.864G>C | p.K288N | Missense | 7/9 | - |
16-57493629-G-T | COQ9 | c.864G>T | p.K288N | Missense | 7/9 | - |
16-70954687-G-A | HYDIN | c.7592C>T | p.A2531V | Missense | 46/86 | - |
16-57550293-C-T | CCDC102A | c.1331G>A | p.R444Q | Missense | 7/9 | - |
16-58752439-C-T | GOT2 | c.589G>A | p.D197N | Missense | 5/10 | - |
16-65016165-C-G | CDH11 | c.1039G>C | p.V347L | Missense | 8/13 | - |
16-65016165-C-A | CDH11 | c.1039G>T | p.V347L | Missense | 8/13 | - |
16-65022234-C-G | CDH11 | c.825G>C | p.M275I | Missense | 7/13 | - |
16-65022234-C-A | CDH11 | c.825G>T | p.M275I | Missense | 7/13 | - |
16-67221389-T-C | EXOC3L1 | c.779A>G | p.H260R | Missense | 5/14 | - |
16-67264648-C-T | FHOD1 | c.2714G>A | p.R905Q | Missense | 18/22 | - |
16-67325711-C-T | KCTD19 | c.2248G>A | p.E750K | Missense | 13/16 | - |
16-67866443-C-T | CENPT | c.116G>A | p.R39Q | Missense | 5/16 | - |
16-68026991-G-A | DPEP2 | c.125C>T | p.A42V | Missense | 2/11 | - |
16-68405450-T-C | SMPD3 | c.635A>G | p.Y212C | Missense | 3/9 | - |
16-70698094-G-A | MTSS2 | c.1730C>T | p.A577V | Missense | 15/15 | - |
16-72130111-G-A | DHX38 | c.55G>A | p.D19N | Missense | 2/27 | - |
16-72135487-C-T | DHX38 | c.1475C>T | p.T492M | Missense | 11/27 | - |
16-74729356-G-C | MLKL | c.300C>G | p.D100E | Missense | 2/11 | - |
16-74729356-G-T | MLKL | c.300C>A | p.D100E | Missense | 2/11 | - |
16-77918617-G-A | VAT1L | c.995G>A | p.R332Q | Missense | 7/9 | - |
16-81010073-C-T | CMC2 | c.157G>A | p.V53I | Missense | 4/4 | - |
16-81056257-G-A | CENPN | c.587G>A | p.R196Q | Missense | 7/11 | - |
16-83842969-C-G | HSBP1 | c.172C>G | p.Q58E | Missense | 3/4 | - |
16-88787673-G-A | PIEZO1 | c.5569C>T | p.P1857S | Missense | 39/51 | - |
16-88791458-G-A | PIEZO1 | c.4193C>T | p.P1398L | Missense | 30/51 | - |
16-89813078-G-C | FANCA | c.3427C>G | p.L1143V | Missense | 35/43 | - |
17-649779-T-C | GEMIN4 | c.1504A>G | p.I502V | Missense | 2/2 | - |
17-685752-G-A | MRM3 | c.134G>A | p.G45E | Missense | 1/4 | - |
17-1552519-C-T | RILP | c.404G>A | p.R135Q | Missense | 3/8 | - |
17-1611317-A-G | TLCD2 | c.542T>C | p.L181P | Missense | 4/4 | - |
17-1674434-C-G | SERPINF1 | c.395C>G | p.P132R | Missense | 4/8 | - |
17-2203109-T-C | SMG6 | c.938A>G | p.D313G | Missense | 2/19 | - |
17-3802943-G-A | P2RX1 | c.860C>T | p.P287L | Missense | 8/12 | - |
17-4701042-G-A | PSMB6 | c.368G>A | p.R123Q | Missense | 4/6 | - |
17-4796274-T-C | MINK1 | c.2312T>C | p.V771A | Missense | 20/32 | - |
17-4908241-G-A | KIF1C | c.1111G>A | p.A371T | Missense | 13/23 | - |
17-4925481-C-T | KIF1C | c.2105C>T | p.T702I | Missense | 22/23 | - |
17-4925675-G-A | KIF1C | c.2299G>A | p.G767R | Missense | 22/23 | - |
17-4925675-G-C | KIF1C | c.2299G>C | p.G767R | Missense | 22/23 | - |
17-5266301-C-T | RABEP1 | c.1658C>T | p.T553M | Missense | 10/18 | - |
17-5271763-G-C | RABEP1 | c.1884G>C | p.M628I | Missense | 12/18 | - |
17-5271763-G-A | RABEP1 | c.1884G>A | p.M628I | Missense | 12/18 | - |
17-5271763-G-T | RABEP1 | c.1884G>T | p.M628I | Missense | 12/18 | - |
17-7320874-C-T | NLGN2 | c.2264C>T | p.A755V | Missense | 7/7 | - |
17-7324877-G-A | SPEM1 | c.883G>A | p.E295K | Missense | 3/3 | - |
17-7838453-C-T | CNTROB | c.584C>T | p.T195I | Missense | 4/19 | - |
17-7950265-A-G | ALOX15B | c.1328A>G | p.Q443R | Missense | 10/14 | - |
17-8159165-G-A | PFAS | c.617G>A | p.R206H | Missense | 6/28 | - |
17-8393828-C-T | MYH10 | c.4714G>A | p.V1572M | Missense | 35/43 | - |
17-9596450-G-A | USP43 | c.1360G>A | p.G454R | Missense | 9/15 | - |
17-9596450-G-C | USP43 | c.1360G>C | p.G454R | Missense | 9/15 | - |
17-9792903-G-A | GLP2R | c.1543G>A | p.A515T | Missense | 13/13 | - |
17-10212619-G-C | MYH13 | c.5101C>G | p.R1701G | Missense | 35/41 | - |
17-10402312-C-G | MYH1 | c.3963G>C | p.R1321S | Missense | 29/40 | - |
17-10402312-C-A | MYH1 | c.3963G>T | p.R1321S | Missense | 29/40 | - |
17-10404032-T-C | MYH1 | c.3776A>G | p.Q1259R | Missense | 28/40 | - |
17-10404653-C-T | MYH1 | c.3512G>A | p.R1171Q | Missense | 27/40 | - |
17-10536949-G-C | MYH3 | c.4606C>G | p.L1536V | Missense | 33/41 | - |
17-11757744-C-A | DNAH9 | c.9932C>A | p.A3311D | Missense | 50/69 | - |
17-17942293-C-T | ATPAF2 | c.35G>A | p.G12E | Missense | 1/8 | - |
17-18135849-G-A | LLGL1 | c.220G>A | p.D74N | Missense | 3/23 | - |
17-18141783-A-G | LLGL1 | c.2066A>G | p.N689S | Missense | 16/23 | - |
17-18161947-A-G | FLII | c.58T>C | p.F20L | Missense | 1/30 | - |
17-18161945-G-T | FLII | c.60C>A | p.F20L | Missense | 1/30 | - |
17-18161945-G-C | FLII | c.60C>G | p.F20L | Missense | 1/30 | - |
17-18220268-A-G | SMCR8 | c.1165A>G | p.I389V | Missense | 1/2 | - |
17-18541968-A-G | TBC1D28 | c.245T>C | p.L82P | Missense | 7/10 | - |
17-26900817-T-C | ALDOC | c.935A>G | p.N312S | Missense | 8/9 | - |
17-26902006-G-C | ALDOC | c.343C>G | p.P115A | Missense | 4/9 | - |
17-26919798-G-T | SPAG5 | c.464C>A | p.T155K | Missense | 3/24 | - |
17-26971167-C-T | KIAA0100 | c.107G>A | p.R36Q | Missense | 2/39 | - |
17-27893893-C-A | ABHD15 | c.92G>T | p.R31L | Missense | 1/2 | - |
17-27943024-A-G | CORO6 | c.1232T>C | p.L411P | Missense | 9/10 | - |
17-28380552-A-C | EFCAB5 | c.1580A>C | p.Q527P | Missense | 10/23 | - |
17-29187451-A-T | ATAD5 | c.2957A>T | p.E986V | Missense | 10/23 | - |
17-29226348-T-G | TEFM | c.922A>C | p.I308L | Missense | 4/4 | - |
17-29226348-T-A | TEFM | c.922A>T | p.I308L | Missense | 4/4 | - |
17-32647357-A-T | CCL8 | c.146A>T | p.E49V | Missense | 2/3 | - |
17-33491164-A-G | UNC45B | c.1130A>G | p.K377R | Missense | 9/20 | - |
17-34956121-G-A | DHRS11 | c.604G>A | p.E202K | Missense | 5/7 | - |
17-35311114-G-T | AATF | c.739G>T | p.A247S | Missense | 4/12 | - |
17-35932057-T-C | SYNRG | c.931A>G | p.M311V | Missense | 9/22 | - |
17-36714562-G-A | SRCIN1 | c.2102C>T | p.A701V | Missense | 11/19 | - |
17-37343130-A-G | CACNB1 | c.467T>C | p.V156A | Missense | 5/14 | - |
17-38416827-G-A | WIPF2 | c.104G>A | p.R35Q | Missense | 3/8 | - |
17-39119986-C-T | KRT39 | c.601G>A | p.G201S | Missense | 3/7 | - |
17-39661394-G-A | KRT13 | c.409C>T | p.R137C | Missense | 1/8 | - |
17-40010572-G-A | KLHL11 | c.1547C>T | p.T516I | Missense | 2/2 | - |
17-40341909-G-A | GHDC | c.1405C>T | p.R469C | Missense | 10/10 | - |
17-40729267-C-G | PSMC3IP | c.189G>C | p.K63N | Missense | 3/8 | - |
17-40729267-C-A | PSMC3IP | c.189G>T | p.K63N | Missense | 3/8 | - |
17-42433931-C-A | FAM171A2 | c.465G>T | p.Q155H | Missense | 4/8 | - |
17-42433931-C-G | FAM171A2 | c.465G>C | p.Q155H | Missense | 4/8 | - |
17-42750898-A-C | MEIOC | c.2622A>C | p.R874S | Missense | 7/8 | - |
17-45682880-T-C | NPEPPS | c.2057T>C | p.I686T | Missense | 17/23 | - |
17-45699143-G-C | NPEPPS | c.2617G>C | p.E873Q | Missense | 23/23 | - |
17-47284735-T-C | GNGT2 | c.50A>G | p.Q17R | Missense | 3/4 | - |
17-47295162-A-G | ABI3 | c.347A>G | p.Q116R | Missense | 3/8 | - |
17-51901703-C-G | KIF2B | c.1309C>G | p.R437G | Missense | 1/1 | - |
17-54969585-T-C | TRIM25 | c.1369A>G | p.I457V | Missense | 9/9 | - |
17-55189893-A-C | AKAP1 | c.2017A>C | p.K673Q | Missense | 5/11 | - |
17-56385284-C-G | TSPOAP1 | c.4750G>C | p.A1584P | Missense | 23/32 | - |
17-56436127-C-T | RNF43 | c.1010G>A | p.R337Q | Missense | 9/10 | - |
17-66267480-G-T | SLC16A6 | c.821C>A | p.P274H | Missense | 5/6 | - |
17-66397585-A-G | ARSG | c.1297A>G | p.I433V | Missense | 11/12 | - |
17-72306291-G-A | DNAI2 | c.1483G>A | p.V495I | Missense | 11/14 | - |
17-73627650-C-T | RECQL5 | c.1328G>A | p.R443Q | Missense | 9/20 | - |
17-74942512-C-T | MGAT5B | c.1903C>T | p.H635Y | Missense | 16/18 | - |
17-76115435-G-A | TMC6 | c.1754C>T | p.P585L | Missense | 14/20 | - |
17-78055757-C-T | CCDC40 | c.1889C>T | p.A630V | Missense | 12/20 | - |
17-78321904-A-G | RNF213 | c.9769A>G | p.I3257V | Missense | 29/68 | - |
17-79514129-G-A | FAAP100 | c.1979C>T | p.P660L | Missense | 5/9 | - |
17-79517729-G-A | FAAP100 | c.791C>T | p.A264V | Missense | 3/9 | - |
17-79804328-G-C | P4HB | c.1033C>G | p.R345G | Missense | 7/11 | - |
17-80046994-C-T | FASN | c.2155G>A | p.E719K | Missense | 14/43 | - |
18-346546-G-A | COLEC12 | c.1076C>T | p.T359M | Missense | 5/10 | - |
18-751739-T-G | YES1 | c.337A>C | p.K113Q | Missense | 3/12 | - |
18-2595443-G-C | NDC80 | c.1044G>C | p.E348D | Missense | 11/17 | - |
18-2595443-G-T | NDC80 | c.1044G>T | p.E348D | Missense | 11/17 | - |
18-3079208-TCC-GCT | MYOM1 | c.4615_4617delGGAinsAGC | p.G1539S | Missense | 34/38 | - |
18-3135692-T-A | MYOM1 | c.2062A>T | p.T688S | Missense | 15/38 | - |
18-5397128-G-A | EPB41L3 | c.2770C>T | p.R924C | Missense | 18/23 | - |
18-5397377-C-T | EPB41L3 | c.2521G>A | p.V841M | Missense | 18/23 | - |
18-5397383-G-A | EPB41L3 | c.2515C>T | p.P839S | Missense | 18/23 | - |
18-5397404-A-C | EPB41L3 | c.2494T>G | p.S832A | Missense | 18/23 | - |
18-6993673-T-C | LAMA1 | c.4975A>G | p.I1659V | Missense | 35/63 | - |
18-8636320-A-G | RAB12 | c.586A>G | p.I196V | Missense | 5/6 | - |
18-13049020-A-G | CEP192 | c.2230A>G | p.K744E | Missense | 16/45 | - |
18-18564484-T-A | ROCK1 | c.2317A>T | p.T773S | Missense | 20/33 | - |
18-22020467-T-G | IMPACT | c.375T>G | p.D125E | Missense | 6/11 | - |
18-22020467-T-A | IMPACT | c.375T>A | p.D125E | Missense | 6/11 | - |
18-23731896-G-A | PSMA8 | c.304G>A | p.D102N | Missense | 3/7 | - |
18-28991349-A-G | DSG4 | c.2293A>G | p.T765A | Missense | 15/16 | - |
18-29126057-C-T | DSG2 | c.2708C>T | p.T903I | Missense | 15/15 | - |
18-29450901-C-T | TRAPPC8 | c.2245G>A | p.A749T | Missense | 15/29 | - |
18-31187565-A-G | ASXL3 | c.62A>G | p.E21G | Missense | 2/12 | - |
18-44559904-C-G | ELOA2 | c.1732G>C | p.V578L | Missense | 1/1 | - |
18-46163049-C-T | CTIF | c.245C>T | p.P82L | Missense | 3/12 | - |
18-47317912-G-A | ACAA2 | c.811C>T | p.H271Y | Missense | 7/10 | - |
18-47318626-T-C | ACAA2 | c.649A>G | p.M217V | Missense | 6/10 | - |
18-47463727-G-A | MYO5B | c.1793C>T | p.P598L | Missense | 15/40 | - |
18-55253824-G-C | FECH | c.29C>G | p.A10G | Missense | 1/11 | - |
18-57000469-T-G | LMAN1 | c.1228A>C | p.M410L | Missense | 11/13 | - |
18-60232248-A-G | ZCCHC2 | c.1765A>G | p.K589E | Missense | 11/14 | - |
18-61078799-G-C | VPS4B | c.40C>G | p.L14V | Missense | 2/11 | - |
18-61305261-T-G | SERPINB4 | c.865A>C | p.M289L | Missense | 8/8 | - |
18-61305261-T-A | SERPINB4 | c.865A>T | p.M289L | Missense | 8/8 | - |
18-61323259-A-T | SERPINB3 | c.805T>A | p.W269R | Missense | 8/8 | - |
18-61323259-A-G | SERPINB3 | c.805T>C | p.W269R | Missense | 8/8 | - |
18-63511111-G-A | CDH7 | c.1045G>A | p.D349N | Missense | 7/12 | - |
18-66542006-G-T | CCDC102B | c.1037G>T | p.C346F | Missense | 5/8 | - |
18-66564514-G-C | CCDC102B | c.1112G>C | p.R371T | Missense | 6/8 | - |
18-76754962-G-T | SALL3 | c.2971G>T | p.A991S | Missense | 2/3 | - |
19-623546-A-G | POLRMT | c.1198T>C | p.F400L | Missense | 6/21 | - |
19-623544-A-T | POLRMT | c.1200T>A | p.F400L | Missense | 6/21 | - |
19-623544-A-C | POLRMT | c.1200T>G | p.F400L | Missense | 6/21 | - |
19-630130-C-T | POLRMT | c.232G>A | p.V78M | Missense | 3/21 | - |
19-727021-G-A | PALM | c.71G>A | p.R24Q | Missense | 3/9 | - |
19-731180-C-T | PALM | c.355C>T | p.R119W | Missense | 5/9 | - |
19-1615796-G-A | TCF3 | c.1475C>T | p.A492V | Missense | 17/19 | - |
19-1828152-G-T | REXO1 | c.636C>A | p.H212Q | Missense | 2/16 | - |
19-1828152-G-C | REXO1 | c.636C>G | p.H212Q | Missense | 2/16 | - |
19-1978927-G-C | CSNK1G2 | c.517G>C | p.V173L | Missense | 6/12 | - |
19-1978927-G-T | CSNK1G2 | c.517G>T | p.V173L | Missense | 6/12 | - |
19-2076974-T-G | MOB3A | c.460A>C | p.K154Q | Missense | 4/5 | - |
19-2252626-C-T | JSRP1 | c.698G>A | p.R233Q | Missense | 7/7 | - |
19-2435039-C-T | LMNB2 | c.815G>A | p.R272Q | Missense | 5/12 | - |
19-3651960-G-A | PIP5K1C | c.991C>T | p.R331C | Missense | 8/18 | - |
19-3821408-G-A | ZFR2 | c.1561C>T | p.R521C | Missense | 10/19 | - |
19-4311977-C-T | FSD1 | c.629C>T | p.P210L | Missense | 7/13 | - |
19-4312042-C-G | FSD1 | c.694C>G | p.L232V | Missense | 7/13 | - |
19-4714275-G-A | DPP9 | c.131C>T | p.A44V | Missense | 4/22 | - |
19-4852061-C-T | PLIN3 | c.601G>A | p.D201N | Missense | 5/8 | - |
19-4859631-G-T | PLIN3 | c.319C>A | p.L107I | Missense | 4/8 | - |
19-5215417-C-T | PTPRS | c.4201G>A | p.D1401N | Missense | 28/38 | - |
19-5692192-C-T | LONP1 | c.2731G>A | p.V911I | Missense | 18/18 | - |
19-5694903-C-G | LONP1 | c.2023G>C | p.V675L | Missense | 14/18 | - |
19-5694903-C-A | LONP1 | c.2023G>T | p.V675L | Missense | 14/18 | - |
19-5711910-C-T | LONP1 | c.742G>A | p.D248N | Missense | 4/18 | - |
19-6141593-T-G | ACSBG2 | c.39T>G | p.D13E | Missense | 2/15 | - |
19-6141593-T-A | ACSBG2 | c.39T>A | p.D13E | Missense | 2/15 | - |
19-6222277-G-A | MLLT1 | c.965C>T | p.S322F | Missense | 6/12 | - |
19-6432112-G-A | SLC25A41 | c.311C>T | p.A104V | Missense | 2/7 | - |
19-6452423-C-T | SLC25A23 | c.971G>A | p.R324H | Missense | 8/10 | - |
19-6913707-C-T | ADGRE1 | c.1166C>T | p.T389M | Missense | 11/21 | - |
19-7676901-C-A | CAMSAP3 | c.1522C>A | p.P508T | Missense | 11/17 | - |
19-7677440-C-G | CAMSAP3 | c.2061C>G | p.D687E | Missense | 11/17 | - |
19-7677440-C-A | CAMSAP3 | c.2061C>A | p.D687E | Missense | 11/17 | - |
19-7677658-C-T | CAMSAP3 | c.2279C>T | p.A760V | Missense | 11/17 | - |
19-8381489-T-G | NDUFA7 | c.142A>C | p.K48Q | Missense | 3/4 | - |
19-8400551-C-G | KANK3 | c.160G>C | p.E54Q | Missense | 3/11 | - |
19-8973559-T-C | MUC16 | c.42757A>G | p.T14253A | Missense | 77/84 | - |
19-9024871-C-T | MUC16 | c.36991G>A | p.E12331K | Missense | 16/84 | - |
19-9060541-C-T | MUC16 | c.26905G>A | p.V8969M | Missense | 3/84 | - |
19-9090314-C-T | MUC16 | c.1501G>A | p.G501R | Missense | 1/84 | - |
19-9090314-C-G | MUC16 | c.1501G>C | p.G501R | Missense | 1/84 | - |
19-10363251-A-C | MRPL4 | c.149A>C | p.K50T | Missense | 3/9 | - |
19-10883157-C-T | DNM2 | c.238C>T | p.H80Y | Missense | 3/21 | - |
19-11492737-G-A | EPOR | c.296C>T | p.A99V | Missense | 3/8 | - |
19-11541831-C-T | ODAD3 | c.254G>A | p.R85Q | Missense | 2/13 | - |
19-13015347-G-A | SYCE2 | c.265C>T | p.H89Y | Missense | 3/6 | - |
19-13041131-G-T | FARSA | c.409C>A | p.Q137K | Missense | 4/13 | - |
19-13059563-G-A | RAD23A | c.536G>A | p.R179Q | Missense | 5/9 | - |
19-13409696-C-A | CACNA1A | c.2751G>T | p.E917D | Missense | 19/47 | - |
19-13411451-T-G | CACNA1A | c.2192A>C | p.E731A | Missense | 18/47 | - |
19-14040896-G-A | CC2D1A | c.2716G>A | p.A906T | Missense | 27/29 | - |
19-14271040-C-T | ADGRL1 | c.1684G>A | p.A562T | Missense | 8/23 | - |
19-15234344-G-A | ILVBL | c.179C>T | p.A60V | Missense | 3/16 | - |
19-15586705-G-A | PGLYRP2 | c.776C>T | p.T259M | Missense | 2/5 | - |
19-15662199-A-C | CYP4F22 | c.1513A>C | p.K505Q | Missense | 14/14 | - |
19-15760887-T-C | CYP4F3 | c.812T>C | p.I271T | Missense | 7/13 | - |
19-16472751-C-T | EPS15L1 | c.2425G>A | p.E809K | Missense | 23/24 | - |
19-17305607-A-G | MYO9B | c.3371A>G | p.E1124G | Missense | 22/40 | - |
19-17622737-G-A | PGLS | c.256G>A | p.D86N | Missense | 1/5 | - |
19-18278023-C-T | PIK3R2 | c.1643C>T | p.A548V | Missense | 13/16 | - |
19-19042798-C-T | HOMER3 | c.677G>A | p.R226Q | Missense | 7/10 | - |
19-19744988-C-T | GMIP | c.2096G>A | p.R699Q | Missense | 19/21 | - |
19-19747795-G-C | GMIP | c.1168C>G | p.P390A | Missense | 12/21 | - |
19-23926428-C-T | ZNF681 | c.1924G>A | p.G642S | Missense | 4/4 | - |
19-33119742-C-T | ANKRD27 | c.1223G>A | p.G408D | Missense | 14/29 | - |
19-33183191-G-A | NUDT19 | c.325G>A | p.D109N | Missense | 1/3 | - |
19-34706531-A-G | LSM14A | c.746A>G | p.N249S | Missense | 6/10 | - |
19-34890208-C-G | GPI | c.1366C>G | p.P456A | Missense | 15/18 | - |
19-34957830-C-T | UBA2 | c.1652C>T | p.P551L | Missense | 16/17 | - |
19-35084467-G-C | SCGB2B2 | c.284C>G | p.A95G | Missense | 3/3 | - |
19-36206203-T-G | ZBTB32 | c.675T>G | p.S225R | Missense | 3/7 | - |
19-36206203-T-A | ZBTB32 | c.675T>A | p.S225R | Missense | 3/7 | - |
19-36206201-A-C | ZBTB32 | c.673A>C | p.S225R | Missense | 3/7 | - |
19-38810700-G-A | KCNK6 | c.110G>A | p.R37Q | Missense | 1/3 | - |
19-39208597-C-G | ACTN4 | c.1174C>G | p.Q392E | Missense | 11/21 | - |
19-39384148-T-A | SIRT2 | c.132A>T | p.L44F | Missense | 4/16 | - |
19-39384148-T-G | SIRT2 | c.132A>C | p.L44F | Missense | 4/16 | - |
19-40330874-G-A | FBL | c.377C>T | p.S126L | Missense | 4/9 | - |
19-40331117-G-A | FBL | c.220C>T | p.R74W | Missense | 3/9 | - |
19-40408821-C-A | FCGBP | c.4018G>T | p.V1340L | Missense | 8/36 | - |
19-41073863-C-T | SPTBN4 | c.6631C>T | p.P2211S | Missense | 31/36 | - |
19-41074162-G-C | SPTBN4 | c.6930G>C | p.M2310I | Missense | 31/36 | - |
19-41074162-G-A | SPTBN4 | c.6930G>A | p.M2310I | Missense | 31/36 | - |
19-41074162-G-T | SPTBN4 | c.6930G>T | p.M2310I | Missense | 31/36 | - |
19-42231159-G-C | CEACAM5 | c.2032G>C | p.G678R | Missense | 9/10 | - |
19-42744253-G-C | GSK3A | c.325C>G | p.Q109E | Missense | 2/11 | - |
19-42910322-C-T | LIPE | c.2356G>A | p.A786T | Missense | 7/10 | - |
19-43766044-C-A | PSG9 | c.677G>T | p.S226I | Missense | 3/6 | - |
19-43766088-A-C | PSG9 | c.633T>G | p.I211M | Missense | 3/6 | - |
19-43990795-G-A | PHLDB3 | c.1394C>T | p.A465V | Missense | 12/16 | - |
19-44031269-C-A | ETHE1 | c.61G>T | p.A21S | Missense | 1/7 | - |
19-44103288-C-T | ZNF576 | c.391C>T | p.R131C | Missense | 3/3 | - |
19-44130315-C-T | CADM4 | c.625G>A | p.G209R | Missense | 5/9 | - |
19-44130315-C-G | CADM4 | c.625G>C | p.G209R | Missense | 5/9 | - |
19-44515492-T-A | ZNF230 | c.1301T>A | p.F434Y | Missense | 5/5 | - |
19-44660897-G-A | ZNF234 | c.728G>A | p.R243H | Missense | 6/6 | - |
19-44777087-G-A | ZNF233 | c.274G>A | p.E92K | Missense | 5/5 | - |
19-44896570-C-T | ZNF285 | c.76G>A | p.D26N | Missense | 3/4 | - |
19-44933919-T-A | ZNF229 | c.1037A>T | p.D346V | Missense | 6/6 | - |
19-45375164-C-T | NECTIN2 | c.533C>T | p.T178M | Missense | 3/9 | - |
19-45406310-G-A | TOMM40 | c.970G>A | p.V324M | Missense | 9/9 | - |
19-45815163-G-A | CKM | c.497C>T | p.T166M | Missense | 5/8 | - |
19-46289009-G-A | DMWD | c.1745C>T | p.A582V | Missense | 3/5 | - |
19-46518651-A-G | CCDC61 | c.811A>G | p.T271A | Missense | 7/14 | - |
19-46997522-C-T | PNMA8B | c.1201G>A | p.V401I | Missense | 1/1 | - |
19-47768128-G-C | CCDC9 | c.645G>C | p.E215D | Missense | 7/12 | - |
19-47768128-G-T | CCDC9 | c.645G>T | p.E215D | Missense | 7/12 | - |
19-48593639-T-G | PLA2G4C | c.745A>C | p.I249L | Missense | 8/17 | - |
19-48848554-C-T | TMEM143 | c.427G>A | p.D143N | Missense | 4/8 | - |
19-49120041-G-A | RPL18 | c.239C>T | p.A80V | Missense | 4/7 | - |
19-49424482-G-T | NUCB1 | c.1074G>T | p.E358D | Missense | 11/13 | - |
19-49535834-G-A | CGB2 | c.83G>A | p.R28H | Missense | 2/3 | - |
19-50037608-G-C | RCN3 | c.401G>C | p.G134A | Missense | 3/7 | - |
19-50250707-C-T | TSKS | c.602G>A | p.R201Q | Missense | 5/11 | - |
19-50780082-C-A | MYH14 | c.3749C>A | p.A1250E | Missense | 29/43 | - |
19-50780084-G-T | MYH14 | c.3751G>T | p.A1251S | Missense | 29/43 | - |
19-51172526-G-T | SHANK1 | c.2691C>A | p.D897E | Missense | 23/24 | - |
19-51871194-C-T | CLDND2 | c.256G>A | p.D86N | Missense | 2/4 | - |
19-51961257-C-T |