PMID: 34272401

The landscape of driver mutations in cutaneous squamous cell carcinoma.

NPJ genomic medicine
Chang, Darwin D, Shain, A Hunter AH
2021-07-16

7336 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-534288-C-A HRAS c.35G>T p.G12V Missense 2/6 -
11-534289-C-T HRAS c.34G>A p.G12S Missense 2/6 -
17-7578413-C-T TP53 c.517G>A p.V173M Missense 5/11 -
9-21971186-G-A CDKN2A c.172C>T p.R58* Nonsense 2/3 -
17-7577537-CCG-ATA TP53 c.742_744delCGGinsTAT p.R248Y Missense 7/11 -
11-534288-C-G HRAS c.35G>C p.G12A Missense 2/6 -
17-7577538-C-A TP53 c.743G>T p.R248L Missense 7/11 -
19-3115012-C-T GNA11 c.547C>T p.R183C Missense 4/7 -
17-7578413-C-G TP53 c.517G>C p.V173L Missense 5/11 -
17-7578413-C-A TP53 c.517G>T p.V173L Missense 5/11 -
17-7577120-C-A TP53 c.818G>T p.R273L Missense 8/11 -
11-533875-G-T HRAS c.181C>A p.Q61K Missense 3/6 -
11-534288-C-T HRAS c.35G>A p.G12D Missense 2/6 -
11-533874-T-C HRAS c.182A>G p.Q61R Missense 3/6 -
17-7577120-C-G TP53 c.818G>C p.R273P Missense 8/11 -
5-40931206-C-T C7 c.103C>T p.P35S Missense 3/18 -
11-533874-T-A HRAS c.182A>T p.Q61L Missense 3/6 -
11-533875-G-C HRAS c.181C>G p.Q61E Missense 3/6 -
17-7577121-G-C TP53 c.817C>G p.R273G Missense 8/11 -
7-148508728-A-T EZH2 c.1936T>A p.Y646N Missense 16/20 -
20-6100088-A-G FERMT1 c.114T>C p.H38= Synonymous 2/15 -
17-7577539-G-C TP53 c.742C>G p.R248G Missense 7/11 -
17-7577121-G-T TP53 c.817C>A p.R273S Missense 8/11 -
16-2140310-C-T PKD1 c.12420G>A p.W4140* Nonsense 45/46 -
16-3788651-C-T CREBBP c.4303G>A p.D1435N Missense 26/31 -
7-55231427-G-A EGFR c.1633G>A p.E545K Missense 14/28 -
4-159640341-G-T PPID c.324C>A p.F108L Missense 3/10 -
4-159640341-G-C PPID c.324C>G p.F108L Missense 3/10 -
6-88854049-C-G CNR1 c.945G>C p.K315N Missense 2/2 -
3-178928226-C-T PIK3CA c.1412C>T p.P471L Missense 9/21 -
1-11184573-G-A MTOR c.6644C>T p.S2215F Missense 47/58 -
9-21974730-C-A CDKN2A c.97G>T p.E33* Nonsense 1/3 -
4-159640343-A-G PPID c.322T>C p.F108L Missense 3/10 -
6-88854049-C-A CNR1 c.945G>T p.K315N Missense 2/2 -
11-533874-T-G HRAS c.182A>C p.Q61P Missense 3/6 -
17-7579574-TG-T TP53 c.112delC p.Q38Kfs*6 Frameshift 4/11 -
4-55972033-C-G KDR c.1611G>C p.G537= Synonymous 12/30 -
12-46211585-C-G ARID2 c.551C>G p.S184* Nonsense 5/21 -
4-55956220-C-T KDR c.3095G>A p.R1032Q Missense 23/30 -
19-36218425-C-T KMT2B c.4204C>T p.R1402* Nonsense 16/37 -
4-55972033-C-T KDR c.1611G>A p.G537= Synonymous 12/30 -
4-55972033-C-A KDR c.1611G>T p.G537= Synonymous 12/30 -
2-163128894-G-A IFIH1 c.2458C>T p.R820C Missense 13/16 -
9-139413084-C-T NOTCH1 c.1058G>A p.R353H Missense 6/34 -
3-121975938-C-T CASR c.196C>T p.R66C Missense 3/7 -
17-7579575-G-A TP53 c.112C>T p.Q38* Nonsense 4/11 -
14-59112339-C-A DACT1 c.887C>A p.S296* Nonsense 4/4 -
1-197115334-C-T ASPM c.234G>A p.K78= Synonymous 1/28 -
3-112546486-C-T CD200R1L c.95G>A p.C32Y Missense 5/8 -
22-30163516-C-A UQCR10 c.129C>A p.I43= Synonymous 1/2 -
22-30163516-C-T UQCR10 c.129C>T p.I43= Synonymous 1/2 -
2-74042990-C-T C2orf78 c.1640C>T p.A547V Missense 3/3 -
19-9297045-C-G OR7D2 c.588C>G p.S196R Missense 3/3 -
20-56137232-C-T PCK1 c.330C>T p.L110= Synonymous 3/10 -
14-59112339-C-G DACT1 c.887C>G p.S296* Nonsense 4/4 -
5-41912247-C-G RIMOC1 c.563C>G p.S188C Missense 5/6 -
10-134599306-G-C NKX6-2 c.147C>G p.G49= Synonymous 1/3 -
10-134599306-G-A NKX6-2 c.147C>T p.G49= Synonymous 1/3 -
3-182602630-C-T ATP11B c.2599C>T p.H867Y Missense 22/30 -
21-31744349-C-T KRTAP13-2 c.183G>A p.W61* Nonsense 1/1 -
10-134599306-G-T NKX6-2 c.147C>A p.G49= Synonymous 1/3 -
1-158747294-G-C OR6N2 c.132C>G p.L44= Synonymous 1/1 -
2-201485451-G-C AOX1 c.1783G>C p.G595R Missense 17/35 -
2-201485451-G-A AOX1 c.1783G>A p.G595R Missense 17/35 -
19-43773579-C-T PSG9 c.5G>A p.G2E Missense 1/6 -
1-158747294-G-T OR6N2 c.132C>A p.L44= Synonymous 1/1 -
4-187519220-G-A FAT1 c.12163C>T p.P4055S Missense 23/27 -
19-1555969-G-A MEX3D c.1549C>T p.L517= Synonymous 2/2 -
5-76251644-G-A CRHBP c.500G>A p.G167E Missense 4/7 -
6-126080300-G-T HEY2 c.366G>T p.M122I Missense 5/5 -
8-67817516-G-C MCMDC2 c.1825G>C p.E609Q Missense 14/15 -
6-126080300-G-C HEY2 c.366G>C p.M122I Missense 5/5 -
19-501725-G-A MADCAM1 c.724G>A p.D242N Missense 4/5 -
1-36028867-G-A NCDN c.1450G>A p.E484K Missense 5/7 -
6-126080300-G-A HEY2 c.366G>A p.M122I Missense 5/5 -
9-138441166-T-C OBP2A c.503T>C p.L168P Missense 6/7 -
1-158435524-C-T OR10K1 c.173C>T p.P58L Missense 2/2 -
12-56143402-G-T GDF11 c.960G>T p.V320= Synonymous 3/3 -
12-56143402-G-C GDF11 c.960G>C p.V320= Synonymous 3/3 -
12-56143402-G-A GDF11 c.960G>A p.V320= Synonymous 3/3 -
2-74043463-C-T C2orf78 c.2113C>T p.P705S Missense 3/3 -
17-13400096-C-A HS3ST3A1 c.639G>T p.M213I Missense 2/2 -
13-24864840-C-G SPATA13 c.2898C>G p.A966= Synonymous 9/13 -
17-13400096-C-T HS3ST3A1 c.639G>A p.M213I Missense 2/2 -
5-1074702-G-T SLC12A7 c.2052C>A p.P684= Synonymous 16/24 -
13-24864840-C-T SPATA13 c.2898C>T p.A966= Synonymous 9/13 -
1-176709310-G-C PAPPA2 c.4129G>C p.G1377R Missense 14/23 -
1-176709310-G-A PAPPA2 c.4129G>A p.G1377R Missense 14/23 -
1-179985086-C-T CEP350 c.2155C>T p.P719S Missense 11/38 -
1-152283531-C-T FLG c.3831G>A p.E1277= Synonymous 3/3 -
1-201798347-G-A IPO9 c.10G>A p.A4T Missense 1/24 -
7-16445802-C-T CRPPA c.418G>A p.D140N Missense 2/10 -
5-1074702-G-C SLC12A7 c.2052C>G p.P684= Synonymous 16/24 -
12-68645338-C-T IL22 c.417G>A p.L139= Synonymous 5/6 -
15-41348900-G-A INO80 c.1990C>T p.R664C Missense 17/36 -
7-105108839-C-G PUS7 c.1470G>C p.K490N Missense 12/16 -
7-105108839-C-A PUS7 c.1470G>T p.K490N Missense 12/16 -
19-50957532-C-T MYBPC2 c.1920C>T p.D640= Synonymous 18/28 -
12-68645338-C-G IL22 c.417G>C p.L139= Synonymous 5/6 -
11-6977025-TT-AG ZNF215 c.817_818delTTinsAG p.L273R Missense 7/7 -
6-27279438-C-T POM121L2 c.512G>A p.G171E Missense 1/1 -
3-46759017-G-A PRSS50 c.217C>T p.L73F Missense 2/6 -
9-120475268-T-C TLR4 c.862T>C p.F288L Missense 3/3 -
14-89205238-C-T EML5 c.832G>A p.D278N Missense 6/44 -
12-48369756-G-A COL2A1 c.3587C>T p.T1196I Missense 50/54 -
12-4747282-G-T AKAP3 c.81C>A p.A27= Synonymous 4/6 -
18-19030996-C-T GREB1L c.1733C>T p.S578F Missense 13/33 -
12-4747282-G-A AKAP3 c.81C>T p.A27= Synonymous 4/6 -
16-2018617-C-G RNF151 c.429C>G p.P143= Synonymous 4/4 -
4-107847068-C-T DKK2 c.261G>A p.G87= Synonymous 2/4 -
1-248084415-C-A OR2T8 c.96C>A p.I32= Synonymous 2/2 -
2-98750396-C-T VWA3B c.982C>T p.P328S Missense 7/28 -
8-19813454-C-T LPL c.878C>T p.S293F Missense 6/10 -
6-28333430-C-T ZKSCAN3 c.985C>T p.L329= Synonymous 6/6 -
3-148896356-G-T CP c.2724C>A p.F908L Missense 16/19 -
11-102593351-C-T MMP8 c.156G>A p.R52= Synonymous 2/10 -
5-33936857-C-T RXFP3 c.12C>T p.A4= Synonymous 1/1 -
12-120146056-C-T CIT c.5139G>A p.L1713= Synonymous 40/48 -
6-27925184-C-T OR2B6 c.166C>T p.H56Y Missense 1/1 -
12-120146056-C-G CIT c.5139G>C p.L1713= Synonymous 40/48 -
16-15811092-C-G MYH11 c.5409G>C p.E1803D Missense 38/41 -
5-33936857-C-G RXFP3 c.12C>G p.A4= Synonymous 1/1 -
5-33936857-C-A RXFP3 c.12C>A p.A4= Synonymous 1/1 -
9-107591314-C-T ABCA1 c.1998G>A p.R666= Synonymous 15/50 -
7-134363722-C-G BPGM c.719C>G p.A240G Missense 3/3 -
2-88885503-G-C EIF2AK3 c.1506C>G p.D502E Missense 9/17 -
7-89939511-G-T CFAP69 c.2785G>T p.V929F Missense 23/23 -
18-18981112-G-A GREB1L c.534G>A p.G178= Synonymous 6/33 -
1-175067590-G-A TNN c.1978G>A p.E660K Missense 9/19 -
15-65676724-T-G IGDCC4 c.3376A>C p.R1126= Synonymous 20/20 -
13-110847385-C-T COL4A1 c.1366G>A p.E456K Missense 22/52 -
11-101818843-C-T CEP126 c.476C>T p.P159L Missense 4/11 -
12-56742743-G-A STAT2 c.1541C>T p.S514L Missense 17/24 -
11-1270416-C-T MUC5B c.12306C>T p.P4102= Synonymous 31/49 -
9-107591314-C-A ABCA1 c.1998G>T p.R666= Synonymous 15/50 -
9-107591314-C-G ABCA1 c.1998G>C p.R666= Synonymous 15/50 -
11-67925977-C-T KMT5B c.1836G>A p.K612= Synonymous 11/11 -
1-118539089-C-T SPAG17 c.4957G>A p.E1653K Missense 34/49 -
1-155149728-C-T TRIM46 c.871C>T p.Q291* Nonsense 5/10 -
7-151093230-G-A WDR86 c.358C>T p.R120W Missense 3/6 -
15-42174494-C-G SPTBN5 c.2220G>C p.R740= Synonymous 11/68 -
15-42174494-C-A SPTBN5 c.2220G>T p.R740= Synonymous 11/68 -
6-31105925-G-A PSORS1C2 c.214C>T p.P72S Missense 2/2 -
2-170502533-G-A CFAP210 c.1477C>T p.L493F Missense 9/9 -
4-173734734-C-T GALNTL6 c.783C>T p.I261= Synonymous 7/13 -
7-72738576-G-T TRIM50 c.210C>A p.S70= Synonymous 2/7 -
7-72738576-G-C TRIM50 c.210C>G p.S70= Synonymous 2/7 -
6-118790408-T-C CEP85L c.2081A>G p.Q694R Missense 12/13 -
13-29599472-G-A MTUS2 c.667G>A p.G213R Missense 3/16 -
11-55339920-G-A OR4C16 c.317G>A p.G106D Missense 1/1 -
2-211513242-T-C CPS1 c.3382T>C p.L1128= Synonymous 27/38 -
6-153296570-C-T FBXO5 c.290G>A p.G97E Missense 2/5 -
6-168445595-C-A KIF25 c.1074C>A p.I358= Synonymous 13/13 -
3-129249791-A-G RHO c.434A>G p.N145S Missense 2/5 -
6-168445595-C-T KIF25 c.1074C>T p.I358= Synonymous 13/13 -
18-40851687-G-C SYT4 c.960C>G p.S320= Synonymous 3/4 -
16-72188260-T-C PMFBP1 c.264A>G p.K88= Synonymous 4/21 -
1-161021358-G-A ARHGAP30 c.1166C>T p.P389L Missense 10/12 -
3-167039922-C-T ZBBX c.966G>A p.W322* Nonsense 12/22 -
5-169101324-C-A DOCK2 c.345C>A p.L115= Synonymous 6/52 -
2-179455452-C-T TTN c.61000G>A p.G20334R Missense 304/363 -
10-43600545-C-T RET c.771C>T p.P257= Synonymous 4/20 -
2-179455452-C-G TTN c.61000G>C p.G20334R Missense 304/363 -
2-102626097-C-T IL1R2 c.141C>T p.A47= Synonymous 3/9 -
12-106717297-C-T TCP11L2 c.645C>T p.F215= Synonymous 6/10 -
1-152732874-C-A KPRP c.810C>A p.S270= Synonymous 2/2 -
2-102626097-C-A IL1R2 c.141C>A p.A47= Synonymous 3/9 -
16-23695403-C-A PLK1 c.1029C>A p.L343= Synonymous 5/10 -
12-52760854-G-T KRT85 c.336C>A p.I112= Synonymous 1/9 -
19-9072443-C-T MUC16 c.15003G>A p.G5001= Synonymous 3/84 -
19-9072443-C-A MUC16 c.15003G>T p.G5001= Synonymous 3/84 -
19-9072443-C-G MUC16 c.15003G>C p.G5001= Synonymous 3/84 -
1-207793314-T-C CR1 c.7156T>C p.L2386= Synonymous 43/47 -
8-124985706-G-A FER1L6 c.480G>A p.L160= Synonymous 7/41 -
1-26368207-G-T SLC30A2 c.822C>A p.I274= Synonymous 6/8 -
12-52760854-G-A KRT85 c.336C>T p.I112= Synonymous 1/9 -
19-7152737-C-T INSR c.2231G>A p.R744K Missense 10/22 -
5-147040750-T-G JAKMIP2 c.388A>C p.R130= Synonymous 3/22 -
5-140202615-G-A PCDHA5 c.1255G>A p.V419I Missense 1/4 -
2-231988139-T-G HTR2B c.340A>C p.T114P Missense 2/4 -
1-158747294-G-A OR6N2 c.132C>T p.L44= Synonymous 1/1 -
3-49898976-C-T CAMKV c.337G>A p.D113N Missense 5/11 -
11-88911329-C-T TYR c.208C>T p.P70S Missense 1/5 -
2-43452584-C-T ZFP36L2 c.359G>A p.R120Q Missense 2/2 -
11-117335842-T-C DSCAML1 c.3261A>G p.R1027= Synonymous 17/33 -
7-48267014-C-T ABCA13 c.624C>T p.T208= Synonymous 6/62 -
19-651727-C-T RNF126 c.327G>A p.E109= Synonymous 4/9 -
1-75190463-C-T CRYZ c.43G>A p.E15K Missense 2/9 -
19-21240008-T-G ZNF430 c.894T>G p.F298L Missense 5/5 -
11-57311193-G-C SMTNL1 c.829G>C p.E277Q Missense 3/8 -
8-124985704-C-T FER1L6 c.478C>T p.L160= Synonymous 7/41 -
20-44047494-T-G PIGT c.368T>G p.V123G Missense 3/12 -
5-80369220-C-T RASGRF2 c.836C>T p.S279F Missense 5/27 -
19-48638972-C-T LIG1 c.1488G>A p.L496= Synonymous 16/28 -
19-48638972-C-G LIG1 c.1488G>C p.L496= Synonymous 16/28 -
7-99669254-C-A ZNF3 c.853G>T p.E285* Nonsense 6/6 -
4-8583289-C-T GPR78 c.580C>T p.Q194* Nonsense 1/3 -
13-95131407-G-A DCT c.103C>T p.L35= Synonymous 1/8 -
12-40041719-C-T C12orf40 c.510C>T p.F170= Synonymous 6/13 -
2-120980534-A-G TMEM185B c.19T>C p.F7L Missense 1/1 -
7-48267014-C-G ABCA13 c.624C>G p.T208= Synonymous 6/62 -
17-38412727-C-T WIPF2 c.16C>T p.P6S Missense 2/8 -
20-40162009-G-A CHD6 c.234C>T p.S78= Synonymous 3/37 -
20-40162009-G-C CHD6 c.234C>G p.S78= Synonymous 3/37 -
12-110226236-G-A TRPV4 c.2177C>T p.S726F Missense 13/16 -
5-137621407-G-A CDC25C c.1396C>T p.L466F Missense 14/14 -
12-114397128-G-A RBM19 c.460C>T p.L154= Synonymous 5/24 -
6-31526209-C-T NFKBIL1 c.967C>T p.P323S Missense 4/4 -
3-154147156-C-T GPR149 c.249G>A p.L83= Synonymous 1/4 -
6-122772890-G-A SERINC1 c.769C>T p.P257S Missense 7/10 -
4-39217479-G-C WDR19 c.980G>C p.W327S Missense 11/37 -
14-56139916-G-T KTN1 c.3714G>T p.Q1238H Missense 40/44 -
19-37619466-C-T ZNF420 c.1573C>T p.H525Y Missense 5/5 -
14-56139916-G-C KTN1 c.3714G>C p.Q1238H Missense 40/44 -
6-49518810-G-C C6orf141 c.305G>C p.R102P Missense 1/1 -
2-220316396-C-G SPEG c.2307C>G p.L769= Synonymous 6/41 -
2-220316396-C-A SPEG c.2307C>A p.L769= Synonymous 6/41 -
2-220316396-C-T SPEG c.2307C>T p.L769= Synonymous 6/41 -
X-48565944-C-T SUV39H1 c.1222C>T p.R408C Missense 6/6 -
19-5763275-G-A CATSPERD c.1477G>A p.E493K Missense 16/22 -
10-30615493-G-T MTPAP c.852C>A p.I284= Synonymous 5/9 -
2-211018646-G-A KANSL1L c.661C>T p.H221Y Missense 2/15 -
5-140573199-G-C PCDHB10 c.1074G>C p.E358D Missense 1/1 -
19-2456908-G-A LMNB2 c.24C>T p.R8= Synonymous 1/12 -
6-108202403-C-G SEC63 c.1885G>C p.E629Q Missense 18/21 -
6-119301428-G-A FAM184A c.2176C>T p.R726* Nonsense 10/18 -
5-94749737-T-C FAM81B c.380T>C p.F127S Missense 4/10 -
19-22154258-C-G ZNF208 c.3578G>C p.G1193A Missense 4/4 -
3-148930484-C-T CP c.148G>A p.E50K Missense 2/19 -
2-54197844-G-A PSME4 c.78C>T p.F26= Synonymous 1/47 -
1-103444657-C-T COL11A1 c.2614G>A p.V872I Missense 33/67 -
4-24543616-G-C DHX15 c.1365C>G p.S455= Synonymous 8/14 -
4-24543616-G-A DHX15 c.1365C>T p.S455= Synonymous 8/14 -
4-24543616-G-T DHX15 c.1365C>A p.S455= Synonymous 8/14 -
17-42289746-A-G UBTF c.737T>C p.I246T Missense 8/21 -
7-150939593-G-T SMARCD3 c.553C>A p.R185= Synonymous 5/13 -
6-24666819-G-C TDP2 c.186C>G p.F62L Missense 2/7 -
6-24666819-G-T TDP2 c.186C>A p.F62L Missense 2/7 -
9-90501206-G-A SPATA31E1 c.1804G>A p.E602K Missense 4/4 -
14-60193743-C-T RTN1 c.1659G>A p.K553= Synonymous 3/9 -
6-33148495-G-A COL11A2 c.1234C>T p.P412S Missense 11/66 -
10-113940282-C-A GPAM c.174G>T p.R58= Synonymous 4/22 -
12-464324-A-C KDM5A c.870T>G p.F290L Missense 7/28 -
12-464324-A-T KDM5A c.870T>A p.F290L Missense 7/28 -
7-122338433-C-T RNF133 c.540G>A p.G180= Synonymous 1/1 -
10-113940282-C-T GPAM c.174G>A p.R58= Synonymous 4/22 -
12-79679574-G-T SYT1 c.174G>T p.P58= Synonymous 5/11 -
11-130748326-G-A SNX19 c.2970C>T p.V990= Synonymous 11/11 -
11-130748326-G-C SNX19 c.2970C>G p.V990= Synonymous 11/11 -
12-79679574-G-A SYT1 c.174G>A p.P58= Synonymous 5/11 -
12-79679574-G-C SYT1 c.174G>C p.P58= Synonymous 5/11 -
12-50236748-G-A BCDIN3D c.123C>T p.H41= Synonymous 1/2 -
14-60337250-C-T RTN1 c.99G>A p.V33= Synonymous 1/9 -
10-27382724-C-T ANKRD26 c.247G>A p.A83T Missense 2/34 -
2-87017479-G-A CD8A c.375C>T p.F125= Synonymous 2/6 -
14-60337250-C-A RTN1 c.99G>T p.V33= Synonymous 1/9 -
14-60337250-C-G RTN1 c.99G>C p.V33= Synonymous 1/9 -
19-37367870-C-G ZNF345 c.138C>G p.P46= Synonymous 3/3 -
5-37341236-G-A NUP155 c.1202C>T p.T401I Missense 11/35 -
5-74009410-G-A HEXB c.851G>A p.R284Q Missense 7/14 -
22-37640170-C-T RAC2 c.19G>A p.V7M Missense 1/7 -
19-4310517-C-T FSD1 c.414C>T p.V138= Synonymous 6/13 -
13-101759918-G-A NALCN c.2499C>T p.F833= Synonymous 22/44 -
19-1556024-G-A MEX3D c.1494C>T p.P498= Synonymous 2/2 -
12-42858480-C-G PRICKLE1 c.1356G>C p.K452N Missense 7/8 -
19-4310517-C-G FSD1 c.414C>G p.V138= Synonymous 6/13 -
17-7578412-AC-CA TP53 c.517_518delGTinsTG p.V173W Missense 5/11 -
1-85131831-G-C SSX2IP c.511C>G p.Q171E Missense 5/14 -
10-69961729-C-T MYPN c.3637C>T p.P1213S Missense 18/20 -
19-33793228-G-A CEBPA c.93C>T p.F31= Synonymous 1/1 -
9-104433238-C-G GRIN3A c.1456G>C p.G486R Missense 3/9 -
13-25672086-G-A PABPC3 c.1750G>A p.D584N Missense 1/1 -
12-117923400-C-T KSR2 c.2229G>A p.K772= Synonymous 15/20 -
11-64621989-G-C EHD1 c.1421C>G p.S474C Missense 5/5 -
9-104433238-C-T GRIN3A c.1456G>A p.G486R Missense 3/9 -
6-169641929-C-G THBS2 c.819G>C p.L273= Synonymous 5/22 -
6-169641929-C-A THBS2 c.819G>T p.L273= Synonymous 5/22 -
19-407952-G-A C2CD4C c.410C>T p.S137F Missense 2/2 -
6-169641929-C-T THBS2 c.819G>A p.L273= Synonymous 5/22 -
14-24642522-C-T REC8 c.364C>T p.H122Y Missense 5/19 -
12-5153335-C-T KCNA5 c.22C>T p.L8= Synonymous 1/1 -
9-5233818-G-A INSL4 c.361G>A p.D121N Missense 2/2 -
14-20822258-A-G PARP2 c.615A>G p.T205= Synonymous 8/16 -
13-38248449-G-A TRPC4 c.1290C>T p.I430= Synonymous 5/11 -
14-20822258-A-T PARP2 c.615A>T p.T205= Synonymous 8/16 -
13-38248449-G-T TRPC4 c.1290C>A p.I430= Synonymous 5/11 -
3-21478505-C-G ZNF385D c.630G>C p.K210N Missense 5/8 -
3-21478505-C-A ZNF385D c.630G>T p.K210N Missense 5/8 -
2-220012493-G-C NHEJ1 c.415C>G p.L139V Missense 4/8 -
6-109931649-C-T AK9 c.1761G>A p.E587= Synonymous 17/41 -
15-48722982-C-G FBN1 c.6757G>C p.E2253Q Missense 56/66 -
17-3101093-T-C OR1A2 c.281T>C p.F94S Missense 1/1 -
5-150112931-G-A DCTN4 c.536C>T p.S179L Missense 5/13 -
5-140580020-A-G PCDHB11 c.673A>G p.T225A Missense 1/1 -
15-34119413-C-T RYR3 c.11259C>T p.F3753= Synonymous 85/104 -
12-85546823-G-A LRRIQ1 c.4441G>A p.D1481N Missense 21/27 -
17-38953405-G-A KRT28 c.819C>T p.N273= Synonymous 4/8 -
6-131148602-A-C SMLR1 c.49A>C p.R17= Synonymous 1/2 -
19-21910476-G-A ZNF100 c.638C>T p.S213L Missense 5/5 -
4-83996479-C-G COPS4 c.1117C>G p.Q373E Missense 10/10 -
5-16689948-G-A MYO10 c.3881C>T p.S1294F Missense 28/41 -
6-108093508-C-T SCML4 c.24G>A p.G8= Synonymous 2/8 -
20-53205300-G-C DOK5 c.364G>C p.G122R Missense 4/8 -
17-7311738-G-A NLGN2 c.164G>A p.R55Q Missense 1/7 -
1-237947421-G-A RYR2 c.12409G>A p.E4137K Missense 90/105 -
22-31851924-CT-AA EIF4ENIF1 c.1012_1013delAGinsTT p.S338F Missense 8/19 -
6-143823503-C-G FUCA2 c.952G>C p.E318Q Missense 4/7 -
14-20528302-G-C OR4L1 c.99G>C p.L33= Synonymous 1/1 -
14-20528302-G-A OR4L1 c.99G>A p.L33= Synonymous 1/1 -
9-99099055-G-T SLC35D2 c.696C>A p.F232L Missense 9/12 -
14-20528302-G-T OR4L1 c.99G>T p.L33= Synonymous 1/1 -
11-118633947-G-A DDX6 c.715C>T p.H239Y Missense 7/14 -
19-10204043-C-T ANGPTL6 c.1204G>A p.D402N Missense 5/6 -
5-1243683-C-T SLC6A18 c.1145C>T p.P382L Missense 9/12 -
14-20612629-C-T OR4N5 c.735C>T p.I245= Synonymous 3/3 -
14-20612629-C-A OR4N5 c.735C>A p.I245= Synonymous 3/3 -
4-55152053-GG-AA PDGFRA c.2485_2486delGGinsAA p.G829K Missense 18/23 -
8-110457235-G-A PKHD1L1 c.5137G>A p.E1713K Missense 38/78 -
13-24864840-C-A SPATA13 c.2898C>A p.A966= Synonymous 9/13 -
7-21659588-C-A DNAH11 c.4392C>A p.I1464= Synonymous 25/82 -
X-49113468-C-A FOXP3 c.456G>T p.G152= Synonymous 5/12 -
19-19021827-G-C COPE c.243C>G p.L81= Synonymous 3/10 -
X-49113468-C-T FOXP3 c.456G>A p.G152= Synonymous 5/12 -
2-241402835-C-G GPC1 c.789C>G p.P263= Synonymous 4/9 -
2-241402835-C-A GPC1 c.789C>A p.P263= Synonymous 4/9 -
X-49113468-C-G FOXP3 c.456G>C p.G152= Synonymous 5/12 -
13-46115751-G-A ERICH6B c.1937C>T p.P646L Missense 15/15 -
6-29408283-C-G OR10C1 c.491C>G p.S164C Missense 1/1 -
5-78411681-G-A BHMT c.125G>A p.G42E Missense 2/8 -
1-224301975-C-T FBXO28 c.144C>T p.L48= Synonymous 1/5 -
2-61431468-C-G USP34 c.9307G>C p.G3103R Missense 74/80 -
2-241402835-C-T GPC1 c.789C>T p.P263= Synonymous 4/9 -
17-4803086-C-T C17orf107 c.29C>T p.T10I Missense 1/3 -
19-4157033-C-T CREB3L3 c.198C>T p.S66= Synonymous 3/10 -
1-224301975-C-A FBXO28 c.144C>A p.L48= Synonymous 1/5 -
19-4157033-C-G CREB3L3 c.198C>G p.S66= Synonymous 3/10 -
19-4157033-C-A CREB3L3 c.198C>A p.S66= Synonymous 3/10 -
2-239039980-G-C ESPNL c.2625G>C p.R875= Synonymous 9/9 -
2-239039980-G-T ESPNL c.2625G>T p.R875= Synonymous 9/9 -
7-127999248-C-T PRRT4 c.712G>A p.E238K Missense 3/6 -
11-104034594-G-C PDGFD c.62C>G p.T21S Missense 1/7 -
14-42356300-A-G LRFN5 c.472A>G p.N158D Missense 3/6 -
6-117252517-C-T RFX6 c.2635C>T p.P879S Missense 19/19 -
9-36369811-G-A RNF38 c.475C>T p.R159* Nonsense 4/12 -
19-16791308-C-G TMEM38A c.382C>G p.R128G Missense 3/6 -
8-27528527-C-T SCARA3 c.1480C>T p.P494S Missense 6/6 -
11-64033385-G-C PLCB3 c.3063G>C p.T1021= Synonymous 26/31 -
15-72039244-C-T THSD4 c.2104C>T p.L702= Synonymous 12/17 -
6-70859781-G-C COL19A1 c.1968G>C p.G656= Synonymous 29/51 -
6-70859781-G-A COL19A1 c.1968G>A p.G656= Synonymous 29/51 -
6-70859781-G-T COL19A1 c.1968G>T p.G656= Synonymous 29/51 -
22-18300690-C-A MICAL3 c.4737G>T p.K1579N Missense 26/32 -
3-121351237-C-G HCLS1 c.1182G>C p.E394D Missense 12/14 -
3-121351237-C-A HCLS1 c.1182G>T p.E394D Missense 12/14 -
2-225266082-G-A FAM124B c.404C>T p.S135F Missense 1/2 -
3-140419753-G-T TRIM42 c.2109G>T p.G703= Synonymous 5/5 -
19-2096977-G-A IZUMO4 c.33G>A p.T11= Synonymous 1/10 -
3-140419753-G-C TRIM42 c.2109G>C p.G703= Synonymous 5/5 -
1-145561185-A-G ANKRD35 c.873A>G p.E291= Synonymous 10/14 -
15-49254886-C-G SHC4 c.327G>C p.L109= Synonymous 1/12 -
15-49254886-C-A SHC4 c.327G>T p.L109= Synonymous 1/12 -
15-90173701-C-T KIF7 c.3135G>A p.L1045= Synonymous 16/19 -
22-42321475-C-G TNFRSF13C c.451G>C p.D151H Missense 3/3 -
8-113243822-C-G CSMD3 c.10780G>C p.G3594R Missense 69/71 -
1-231406602-G-C GNPAT c.1378G>C p.G460R Missense 10/16 -
20-60861714-C-T OSBPL2 c.1072C>T p.P358S Missense 11/14 -
1-231406602-G-A GNPAT c.1378G>A p.G460R Missense 10/16 -
16-10851813-G-A NUBP1 c.535G>A p.E179K Missense 7/11 -
17-74073131-C-A GALR2 c.783C>A p.F261L Missense 2/2 -
2-179201144-G-A OSBPL6 c.774G>A p.M258I Missense 9/25 -
11-17496495-G-C ABCC8 c.228C>G p.I76M Missense 2/39 -
15-101120882-G-A LINS1 c.166C>T p.Q56* Nonsense 2/7 -
17-48678129-C-T CACNA1G c.3733C>T p.P1245S Missense 18/38 -
1-67519559-G-C SLC35D1 c.138C>G p.A46= Synonymous 1/12 -
7-7629119-A-G MIOS c.1968A>G p.K656= Synonymous 9/13 -
2-179201144-G-T OSBPL6 c.774G>T p.M258I Missense 9/25 -
X-21674101-C-T KLHL34 c.1806G>A p.W602* Nonsense 1/1 -
7-82582367-A-G PCLO c.7902T>C p.S2634= Synonymous 5/25 -
7-82582367-A-C PCLO c.7902T>G p.S2634= Synonymous 5/25 -
12-68645338-C-A IL22 c.417G>T p.L139= Synonymous 5/6 -
19-22951111-G-A ZNF99 c.222C>T p.P74= Synonymous 3/4 -
5-140559847-G-C PCDHB8 c.2232G>C p.G744= Synonymous 1/1 -
15-49254886-C-T SHC4 c.327G>A p.L109= Synonymous 1/12 -
6-106756347-C-T ATG5 c.128G>A p.S43N Missense 3/8 -
14-100759646-G-A SLC25A29 c.147C>T p.I49= Synonymous 3/4 -
14-100759646-G-T SLC25A29 c.147C>A p.I49= Synonymous 3/4 -
12-15668520-G-A PTPRO c.1553G>A p.G518E Missense 8/27 -
6-28269003-A-G PGBD1 c.1372A>G p.R458G Missense 7/7 -
19-22951111-G-T ZNF99 c.222C>A p.P74= Synonymous 3/4 -
19-10104078-G-A COL5A3 c.1727C>T p.P576L Missense 19/67 -
19-53995203-C-T ZNF813 c.1717C>T p.H573Y Missense 4/4 -
16-67701894-C-G C16orf86 c.446C>G p.S149C Missense 3/4 -
1-94014884-C-T FNBP1L c.1552C>T p.P518S Missense 15/17 -
7-11501754-C-T THSD7A c.2385G>A p.R795= Synonymous 10/28 -
2-168725939-G-T B3GALT1 c.390G>T p.V130= Synonymous 5/5 -
6-65300254-C-T EYS c.5506G>A p.E1836K Missense 26/43 -
11-56510337-C-T OR9G4 c.951G>A p.R317= Synonymous 1/1 -
17-7577538-CG-TA TP53 c.742_743delCGinsTA p.R248* Nonsense 7/11 -
2-168725939-G-C B3GALT1 c.390G>C p.V130= Synonymous 5/5 -
2-168725939-G-A B3GALT1 c.390G>A p.V130= Synonymous 5/5 -
8-102570740-A-G GRHL2 c.378A>G p.L126= Synonymous 4/16 -
4-55971145-G-A KDR c.1652C>T p.P551L Missense 13/30 -
8-102570740-A-C GRHL2 c.378A>C p.L126= Synonymous 4/16 -
15-43910242-G-A STRC c.377C>T p.P126L Missense 2/29 -
18-5394701-G-T EPB41L3 c.3245C>A p.P1082Q Missense 22/23 -
6-70890389-G-A COL19A1 c.2749G>A p.G917R Missense 44/51 -
6-70890389-G-C COL19A1 c.2749G>C p.G917R Missense 44/51 -
1-180904709-C-T KIAA1614 c.1664C>T p.P555L Missense 5/9 -
7-82544944-C-T PCLO c.12358G>A p.E4120K Missense 7/25 -
14-23346255-G-A LRP10 c.1661G>A p.R554Q Missense 7/7 -
1-176659436-G-T PAPPA2 c.2301G>T p.T767= Synonymous 5/23 -
1-151748335-G-A TDRKH c.1243C>T p.Q415* Nonsense 9/13 -
1-15821909-G-A CASP9 c.907C>T p.P303S Missense 7/9 -
1-179452355-A-G AXDND1 c.2090A>G p.H697R Missense 18/26 -
17-7578419-TCCGTCATG-T TP53 c.504_511delCATGACGG p.H168Qfs*10 Frameshift 5/11 -
15-49254888-G-A SHC4 c.325C>T p.L109= Synonymous 1/12 -
19-17752261-C-T UNC13A c.2577G>A p.Q859= Synonymous 21/44 -
7-94054470-C-A COL1A2 c.2715C>A p.A905= Synonymous 42/52 -
14-52474674-C-T NID2 c.3734G>A p.W1245* Nonsense 19/22 -
11-76872087-C-A MYO7A c.1269C>A p.S423= Synonymous 12/49 -
11-76872087-C-G MYO7A c.1269C>G p.S423= Synonymous 12/49 -
11-76872087-C-T MYO7A c.1269C>T p.S423= Synonymous 12/49 -
19-37619795-G-A ZNF420 c.1902G>A p.Q634= Synonymous 5/5 -
17-73945913-A-G ACOX1 c.1364T>C p.L455S Missense 10/14 -
12-94649025-C-T PLXNC1 c.3040C>T p.P1014S Missense 17/31 -
13-21006352-G-T CRYL1 c.522C>A p.A174= Synonymous 5/8 -
13-21006352-G-C CRYL1 c.522C>G p.A174= Synonymous 5/8 -
12-49935495-G-A KCNH3 c.393G>A p.K131= Synonymous 3/15 -
13-21006352-G-A CRYL1 c.522C>T p.A174= Synonymous 5/8 -
20-33364157-G-T NCOA6 c.330C>A p.I110= Synonymous 4/15 -
3-45811814-T-A SLC6A20 c.985A>T p.T329S Missense 7/11 -
16-81314474-G-A BCO1 c.1114G>A p.G372S Missense 8/11 -
16-30744658-T-A SRCAP c.6185T>A p.V2062E Missense 28/34 -
20-58411596-G-A PHACTR3 c.1365G>A p.E455= Synonymous 9/13 -
17-7577023-GCTTAGTGCTCCCTGGGGGCAGCTCGTGGTGAGGCTCCCCTTTCTTGCGGAGATTCTCTT-G TP53 c.794_916del123 p.E286Afs*31 InFrameDeletion 8/11 -
10-126136642-C-T NKX1-2 c.289G>A p.D97N Missense 2/2 -
19-42351695-G-A DMRTC2 c.199G>A p.E67K Missense 2/9 -
1-228596920-G-A TRIM17 c.836C>T p.T279I Missense 6/7 -
8-88297023-G-C CNBD1 c.889G>C p.G297R Missense 7/11 -
18-21660808-C-A TTC39C c.720C>A p.I240= Synonymous 5/14 -
6-151140887-C-A PLEKHG1 c.1385C>A p.P462Q Missense 13/17 -
7-99971673-C-T PILRA c.71C>T p.S24F Missense 2/7 -
3-150377821-G-A ERICH6 c.1850C>T p.P617L Missense 14/14 -
6-84326732-A-T SNAP91 c.834T>A p.L278= Synonymous 10/30 -
6-84326732-A-C SNAP91 c.834T>G p.L278= Synonymous 10/30 -
6-84326732-A-G SNAP91 c.834T>C p.L278= Synonymous 10/30 -
17-49365496-C-G UTP18 c.1435C>G p.L479V Missense 11/14 -
16-27539952-G-A GTF3C1 c.940C>T p.H314Y Missense 6/37 -
17-10357131-G-T MYH4 c.2763C>A p.A921= Synonymous 23/40 -
22-39709687-C-A RPL3 c.999G>T p.L333= Synonymous 8/10 -
13-103446028-C-T POGLUT2 c.517G>A p.E173K Missense 3/10 -
17-10357131-G-C MYH4 c.2763C>G p.A921= Synonymous 23/40 -
17-10357131-G-A MYH4 c.2763C>T p.A921= Synonymous 23/40 -
11-46342052-C-T CREB3L1 c.1496C>T p.S499F Missense 11/12 -
22-41923988-C-T ACO2 c.2170C>T p.L724= Synonymous 17/18 -
1-1221536-C-G SCNN1D c.789C>G p.L263= Synonymous 7/18 -
1-1221536-C-A SCNN1D c.789C>A p.L263= Synonymous 7/18 -
1-1221536-C-T SCNN1D c.789C>T p.L263= Synonymous 7/18 -
1-34666413-G-C C1orf94 c.1050G>C p.G350= Synonymous 3/7 -
11-36657613-C-A IFTAP c.304C>A p.L102I Missense 4/6 -
1-34666413-G-T C1orf94 c.1050G>T p.G350= Synonymous 3/7 -
10-121657999-C-T SEC23IP c.224C>T p.S75F Missense 2/19 -
1-247769425-G-A OR2G3 c.538G>A p.E180K Missense 1/1 -
4-101109172-C-T DDIT4L c.244G>A p.E82K Missense 3/3 -
20-60868921-C-T OSBPL2 c.1421C>T p.S474F Missense 14/14 -
12-26806997-C-T ITPR2 c.2652G>A p.R884= Synonymous 21/57 -
16-27523120-G-A GTF3C1 c.1076C>T p.P359L Missense 7/37 -
7-151254302-C-T PRKAG2 c.1695G>A p.E565= Synonymous 16/16 -
8-67372622-G-T ADHFE1 c.1242G>T p.L414= Synonymous 13/14 -
1-57349217-G-A C8A c.718G>A p.V240I Missense 6/11 -
8-67372622-G-C ADHFE1 c.1242G>C p.L414= Synonymous 13/14 -
1-226555960-C-G PARP1 c.2217G>C p.L739= Synonymous 16/23 -
8-67372622-G-A ADHFE1 c.1242G>A p.L414= Synonymous 13/14 -
1-226555960-C-T PARP1 c.2217G>A p.L739= Synonymous 16/23 -
5-140174637-C-T PCDHA2 c.88C>T p.Q30* Nonsense 1/4 -
9-140919407-G-C CACNA1B c.3069G>C p.R1023= Synonymous 20/47 -
7-158706983-T-C DYNC2I1 c.1762T>C p.L588= Synonymous 14/25 -
9-140919407-G-T CACNA1B c.3069G>T p.R1023= Synonymous 20/47 -
9-140919407-G-A CACNA1B c.3069G>A p.R1023= Synonymous 20/47 -
12-43821178-T-C ADAMTS20 c.4040A>G p.K1347R Missense 27/39 -
2-143790871-C-T KYNU c.1022C>T p.S341F Missense 12/14 -
1-192335242-C-A RGS21 c.447C>A p.L149= Synonymous 5/5 -
10-50532635-C-T C10orf71 c.2045C>T p.P682L Missense 3/3 -
1-192335242-C-G RGS21 c.447C>G p.L149= Synonymous 5/5 -
2-175300942-C-T GPR155 c.2515G>A p.E839K Missense 16/16 -
4-55976930-G-A KDR c.982C>T p.P328S Missense 8/30 -
2-166903457-C-T SCN1A c.1200G>A p.M400I Missense 12/29 -
11-64880874-G-A TM7SF2 c.487G>A p.G163R Missense 4/10 -
18-29847983-C-T GAREM1 c.2482G>A p.D828N Missense 6/6 -
9-115936817-G-A FKBP15 c.2270C>T p.A757V Missense 22/28 -
4-20619234-G-A SLIT2 c.4309G>A p.E1437K Missense 36/37 -
3-13368808-C-A NUP210 c.4416G>T p.L1472= Synonymous 32/40 -
4-170476971-G-A NEK1 c.1462C>T p.P488S Missense 18/36 -
11-67160977-C-G RAD9A c.245C>G p.S82C Missense 4/11 -
18-31323587-G-A ASXL3 c.3775G>A p.D1259N Missense 12/12 -
11-56510339-T-G OR9G4 c.949A>C p.R317= Synonymous 1/1 -
10-38344903-C-A ZNF33A c.1851C>A p.A617= Synonymous 5/5 -
4-69964287-G-C UGT2B7 c.751G>C p.G251R Missense 2/6 -
4-69964287-G-A UGT2B7 c.751G>A p.G251R Missense 2/6 -
10-38344903-C-G ZNF33A c.1851C>G p.A617= Synonymous 5/5 -
15-82443985-G-A EFL1 c.2810C>T p.A937V Missense 18/20 -
7-158706985-A-G DYNC2I1 c.1764A>G p.L588= Synonymous 14/25 -
2-31572915-C-G XDH c.2806G>C p.G936R Missense 25/36 -
2-201357897-C-T KCTD18 c.762G>A p.K254= Synonymous 6/7 -
2-31572915-C-T XDH c.2806G>A p.G936R Missense 25/36 -
2-220316399-C-T SPEG c.2310C>T p.L770= Synonymous 6/41 -
15-54305364-C-A UNC13C c.264C>A p.L88= Synonymous 2/33 -
15-54305364-C-G UNC13C c.264C>G p.L88= Synonymous 2/33 -
19-12758381-G-A MAN2B1 c.2696C>T p.S899L Missense 22/24 -
19-22575729-T-A ZNF98 c.308A>T p.Y103F Missense 4/4 -
4-187194320-A-C F11 c.314A>C p.H105P Missense 4/15 -
5-158204527-G-A EBF1 c.930C>T p.I310= Synonymous 10/16 -
10-102306910-C-T HIF1AN c.908C>T p.P303L Missense 7/8 -
7-149462309-C-T ZNF467 c.1282G>A p.E428K Missense 5/5 -
6-83904213-G-A RWDD2A c.43G>A p.E15K Missense 2/3 -
15-54305364-C-T UNC13C c.264C>T p.L88= Synonymous 2/33 -
11-1024905-G-A MUC6 c.3164C>T p.S1055F Missense 24/33 -
5-140203609-C-G PCDHA5 c.2249C>G p.S750W Missense 1/4 -
X-5821648-C-A NLGN4X c.1071G>T p.M357I Missense 5/6 -
11-62744347-C-A SLC22A6 c.1572G>T p.G524= Synonymous 10/10 -
7-20668449-C-T ABCB5 c.247C>T p.Q83* Nonsense 4/28 -
5-140956336-A-T DIAPH1 c.1383T>A p.I461= Synonymous 13/28 -
17-60765915-C-T MRC2 c.3115C>T p.H1039Y Missense 22/30 -
19-2876158-C-G ZNF556 c.198C>G p.S66= Synonymous 3/4 -
19-2876158-C-A ZNF556 c.198C>A p.S66= Synonymous 3/4 -
9-33294740-C-T NFX1 c.348C>T p.I116= Synonymous 2/24 -
2-11755409-G-T GREB1 c.3315G>T p.G1105= Synonymous 20/33 -
5-140956336-A-G DIAPH1 c.1383T>C p.I461= Synonymous 13/28 -
10-26462669-G-A MYO3A c.3476G>A p.G1159E Missense 30/35 -
19-56477634-G-C NLRP8 c.2269G>C p.G757R Missense 5/10 -
19-56477634-G-A NLRP8 c.2269G>A p.G757R Missense 5/10 -
3-89259262-C-T EPHA3 c.406C>T p.R136* Nonsense 3/17 -
5-158204527-G-T EBF1 c.930C>A p.I310= Synonymous 10/16 -
9-99064245-C-G HSD17B3 c.142G>C p.G48R Missense 1/11 -
9-99064245-C-T HSD17B3 c.142G>A p.G48R Missense 1/11 -
7-4825936-C-T AP5Z1 c.1188C>T p.I396= Synonymous 10/17 -
13-43491735-G-A EPSTI1 c.683C>T p.S228F Missense 8/11 -
1-40092741-G-T HEYL c.425C>A p.A142E Missense 5/5 -
12-81769707-C-T PPFIA2 c.999G>A p.K333= Synonymous 10/33 -
1-108766342-T-C NBPF4 c.1902A>G p.Q634= Synonymous 15/15 -
7-94057071-G-A COL1A2 c.3400G>A p.E1134K Missense 49/52 -
16-31473633-C-A ARMC5 c.765C>A p.T255= Synonymous 3/6 -
2-11755409-G-C GREB1 c.3315G>C p.G1105= Synonymous 20/33 -
2-11755409-G-A GREB1 c.3315G>A p.G1105= Synonymous 20/33 -
3-59737996-C-T FHIT c.400G>A p.E134K Missense 9/10 -
16-4164511-G-A ADCY9 c.933C>T p.L311= Synonymous 2/11 -
3-140401400-C-T TRIM42 c.438C>T p.C146= Synonymous 2/5 -
17-38572295-C-T TOP2A c.294G>A p.R98= Synonymous 4/35 -
7-83634684-C-T SEMA3A c.1331G>A p.G444E Missense 11/17 -
17-72998255-G-A CDR2L c.438G>A p.R146= Synonymous 4/5 -
17-72998255-G-C CDR2L c.438G>C p.R146= Synonymous 4/5 -
17-72998255-G-T CDR2L c.438G>T p.R146= Synonymous 4/5 -
11-71238604-C-T KRTAP5-7 c.258C>T p.G86= Synonymous 1/1 -
5-174949396-C-G SFXN1 c.843C>G p.P281= Synonymous 10/11 -
10-73578450-G-A PSAP c.1463C>T p.P488L Missense 13/14 -
22-32200882-C-T DEPDC5 c.1198C>T p.P400S Missense 17/43 -
6-49754732-C-T PGK2 c.169G>A p.A57T Missense 1/1 -
11-71238604-C-G KRTAP5-7 c.258C>G p.G86= Synonymous 1/1 -
11-71238604-C-A KRTAP5-7 c.258C>A p.G86= Synonymous 1/1 -
2-179605722-A-G TTN c.12238T>C p.L4080= Synonymous 48/363 -
11-116633813-G-A BUD13 c.492C>T p.P164= Synonymous 4/10 -
6-29591116-G-A GABBR1 c.929C>T p.A310V Missense 8/23 -
7-130027692-G-A CPA1 c.1100G>A p.W367* Nonsense 10/10 -
11-116633813-G-T BUD13 c.492C>A p.P164= Synonymous 4/10 -
11-116633813-G-C BUD13 c.492C>G p.P164= Synonymous 4/10 -
4-89311961-C-G HERC6 c.594C>G p.L198= Synonymous 4/23 -
8-31024630-CC-TT WRN c.4075_4076delCCinsTT p.P1359F Missense 34/35 -
4-89311961-C-A HERC6 c.594C>A p.L198= Synonymous 4/23 -
10-62023682-G-A ANK3 c.610C>T p.P204S Missense 6/44 -
11-17482044-G-A ABCC8 c.1002C>T p.F334= Synonymous 6/39 -
8-145661271-G-A TONSL c.2545C>T p.R849C Missense 17/26 -
13-110436996-G-C IRS2 c.1405C>G p.L469V Missense 1/2 -
4-89311961-C-T HERC6 c.594C>T p.L198= Synonymous 4/23 -
21-46957710-G-A SLC19A1 c.164C>T p.P55L Missense 2/6 -
1-119575902-G-A WARS2 c.715C>T p.R239* Nonsense 6/6 -
19-46834519-C-T HIF3A c.1819C>T p.P607S Missense 13/15 -
20-32883238-G-A AHCY c.182C>T p.A61V Missense 2/10 -
14-94844804-C-G SERPINA1 c.1239G>C p.V413= Synonymous 5/5 -
2-152424887-G-T NEB c.17679C>A p.T5893= Synonymous 112/182 -
2-152424887-G-A NEB c.17679C>T p.T5893= Synonymous 112/182 -
19-45860741-G-A ERCC2 c.1368C>T p.I456= Synonymous 14/23 -
19-45860741-G-T ERCC2 c.1368C>A p.I456= Synonymous 14/23 -
2-179495665-C-T TTN c.44020G>A p.E14674K Missense 238/363 -
4-53610852-G-A ERVMER34-1 c.836C>T p.P279L Missense 3/3 -
2-179600324-G-A TTN c.14849C>T p.A4950V Missense 50/363 -
9-136342183-C-T SLC2A6 c.436G>A p.G146R Missense 3/10 -
15-89074732-C-T DET1 c.205G>A p.G69R Missense 2/5 -
5-160063246-G-A ATP10B c.1071C>T p.F357= Synonymous 11/26 -
5-108290552-G-C FER c.1452G>C p.E484D Missense 12/20 -
8-144644518-C-T GSDMD c.1136C>T p.T379I Missense 9/11 -
4-37447911-A-G NWD2 c.4301A>G p.N1434S Missense 7/7 -
5-108290552-G-T FER c.1452G>T p.E484D Missense 12/20 -
2-189866126-C-T COL3A1 c.2287C>T p.P763S Missense 33/51 -
X-41201896-CGC-TGG DDX3X c.433_435delCGCinsTGG p.R145W Missense 5/17 -
20-48807899-C-T CEBPB c.329C>T p.S110F Missense 1/1 -
13-109672062-C-T MYO16 c.2599C>T p.P867S Missense 23/35 -
7-107389461-G-T CBLL1 c.150G>T p.R50S Missense 2/6 -
18-54814590-C-G BOD1L2 c.47C>G p.S16W Missense 1/1 -
7-107389461-G-C CBLL1 c.150G>C p.R50S Missense 2/6 -
6-15374360-G-T JARID2 c.58G>T p.G20W Missense 2/18 -
11-33079577-C-T TCP11L1 c.530C>T p.S177F Missense 5/10 -
4-17625409-G-C MED28 c.525G>C p.L175= Synonymous 4/4 -
4-17625409-G-A MED28 c.525G>A p.L175= Synonymous 4/4 -
12-132239994-C-T SFSWAP c.1518C>T p.F506= Synonymous 10/18 -
11-49974322-G-A OR4C13 c.348G>A p.M116I Missense 1/1 -
11-49974322-G-C OR4C13 c.348G>C p.M116I Missense 1/1 -
4-184585215-T-A TRAPPC11 c.195T>A p.C65* Nonsense 2/30 -
4-42416663-G-C ATP8A1 c.3378C>G p.S1126= Synonymous 36/37 -
11-49974322-G-T OR4C13 c.348G>T p.M116I Missense 1/1 -
12-123686748-C-A MPHOSPH9 c.1900G>T p.E634* Nonsense 11/24 -
2-153378475-C-T FMNL2 c.136C>T p.P46S Missense 2/26 -
12-72969131-G-A TRHDE c.2093G>A p.W743* Nonsense 11/19 -
3-185906130-C-T DGKG c.1956G>A p.L652= Synonymous 22/25 -
4-42416663-G-T ATP8A1 c.3378C>A p.S1126= Synonymous 36/37 -
8-77616602-G-A ZFHX4 c.279G>A p.Q93= Synonymous 2/11 -
1-114440531-C-A AP4B1 c.1233G>T p.L411F Missense 7/10 -
21-42821162-G-A MX1 c.1372G>A p.V458M Missense 14/17 -
6-152720900-A-T SYNE1 c.7088T>A p.L2363H Missense 48/146 -
11-124618302-C-T VSIG2 c.835G>A p.G279R Missense 6/7 -
11-102995899-C-T DYNC2H1 c.1732C>T p.R578C Missense 12/89 -
3-147120550-C-T ZIC4 c.35G>A p.R12Q Missense 2/5 -
6-27100941-G-C H2AC11 c.91G>C p.V31L Missense 1/1 -
9-108128681-C-T SLC44A1 c.1465C>T p.L489F Missense 12/16 -
13-42264328-GG-AA VWA8 c.3949_3950delCCinsTT p.P1317F Missense 33/45 -
15-67664920-T-C IQCH c.1225T>C p.Y409H Missense 9/21 -
1-27700939-GG-AA FCN3 c.94_95delCCinsTT p.P32F Missense 2/8 -
11-124618302-C-G VSIG2 c.835G>C p.G279R Missense 6/7 -
4-76878763-G-T SDAD1 c.1677C>A p.I559= Synonymous 19/22 -
19-17688035-C-T COLGALT1 c.981C>T p.F327= Synonymous 7/12 -
8-116631855-G-C TRPS1 c.470C>G p.S157* Nonsense 3/7 -
8-116631855-G-T TRPS1 c.470C>A p.S157* Nonsense 3/7 -
17-80017870-C-T DUS1L c.1122G>A p.K374= Synonymous 11/14 -
4-156273876-C-T MAP9 c.1693G>A p.E565K Missense 13/14 -
4-186380357-G-C CCDC110 c.1384C>G p.L462V Missense 6/7 -
4-119952239-C-T SYNPO2 c.2309C>T p.S770F Missense 4/5 -
2-25610201-G-T DTNB c.1782C>A p.S594= Synonymous 18/21 -
7-128494633-C-T FLNC c.6894C>T p.P2298= Synonymous 41/48 -
2-25610201-G-A DTNB c.1782C>T p.S594= Synonymous 18/21 -
9-139413085-G-A NOTCH1 c.1057C>T p.R353C Missense 6/34 -
2-1652803-C-G PXDN c.2749G>C p.G917R Missense 17/23 -
2-1652803-C-T PXDN c.2749G>A p.G917R Missense 17/23 -
12-132396620-C-T ULK1 c.1082C>T p.P361L Missense 13/28 -
10-90708675-C-T ACTA2 c.13G>A p.E5K Missense 2/9 -
2-141709473-C-A LRP1B c.2924G>T p.C975F Missense 19/91 -
12-40702915-G-A LRRK2 c.4197G>A p.E1399= Synonymous 30/51 -
9-71532545-G-A PIP5K1B c.853G>A p.E285K Missense 9/16 -
3-130368225-G-A COL6A6 c.5552G>A p.R1851K Missense 32/36 -
12-64823966-G-C XPOT c.1875G>C p.M625I Missense 17/25 -
2-179560719-C-T TTN c.31080G>A p.W10360* Nonsense 114/363 -
1-29475720-C-G SRSF4 c.687G>C p.R229= Synonymous 6/6 -
1-29475720-C-A SRSF4 c.687G>T p.R229= Synonymous 6/6 -
9-125681464-G-C ZBTB26 c.750C>G p.I250M Missense 2/2 -
5-13735401-C-T DNAH5 c.11600G>A p.R3867K Missense 68/79 -
7-119914738-G-C KCND2 c.52G>C p.G18R Missense 1/6 -
4-54374330-G-A LNX1 c.445C>T p.P149S Missense 3/11 -
10-108458987-C-T SORCS1 c.1398G>A p.M466I Missense 9/26 -
10-108458987-C-A SORCS1 c.1398G>T p.M466I Missense 9/26 -
20-31575484-G-C SUN5 c.711C>G p.P237= Synonymous 10/13 -
10-108458987-C-G SORCS1 c.1398G>C p.M466I Missense 9/26 -
12-123892162-G-A KMT5A c.971G>A p.R324Q Missense 8/8 -
5-140752010-C-T PCDHGB3 c.2049C>T p.D683= Synonymous 1/4 -
19-45322878-C-T BCAM c.1658C>T p.A553V Missense 13/15 -
20-41076903-C-T PTPRT c.1517G>A p.W506* Nonsense 9/31 -
X-110491832-G-C CAPN6 c.1449C>G p.L483= Synonymous 10/13 -
8-87738832-G-A CNGB3 c.265C>T p.Q89* Nonsense 3/18 -
X-26157598-G-A MAGEB18 c.496G>A p.E166K Missense 2/3 -
1-47406911-C-T CYP4A11 c.195G>A p.E65= Synonymous 1/12 -
22-18918611-G-A PRODH c.374C>T p.S125F Missense 2/14 -
1-175087840-G-C TNN c.2530G>C p.G844R Missense 11/19 -
1-175087840-G-A TNN c.2530G>A p.G844R Missense 11/19 -
3-48222275-G-C CDC25A c.485C>G p.S162C Missense 6/15 -
4-46099347-C-T GABRG1 c.124G>A p.E42K Missense 2/9 -
1-153643396-C-T ILF2 c.3G>A p.M1? Missense 1/14 -
1-153643396-C-G ILF2 c.3G>C p.M1? Missense 1/14 -
1-153643396-C-A ILF2 c.3G>T p.M1? Missense 1/14 -
11-55340044-G-A OR4C16 c.441G>A p.W147* Nonsense 1/1 -
2-179550264-C-A TTN c.32373G>T p.V10791= Synonymous 128/363 -
1-145584009-G-A PIAS3 c.1240G>A p.A414T Missense 10/14 -
1-8716104-G-A RERE c.253C>T p.R85C Missense 2/23 -
22-41923990-G-C ACO2 c.2172G>C p.L724= Synonymous 17/18 -
8-144808447-G-A FAM83H c.3184C>T p.P1062S Missense 5/5 -
14-24839636-T-G NFATC4 c.1032T>G p.S344= Synonymous 2/10 -
14-24839636-T-A NFATC4 c.1032T>A p.S344= Synonymous 2/10 -
14-105344254-G-A CEP170B c.228G>A p.Q76= Synonymous 4/19 -
11-61906436-C-T INCENP c.1250C>T p.P417L Missense 7/19 -
6-146480487-A-G GRM1 c.704A>G p.N235S Missense 2/8 -
11-89531622-G-C TRIM49 c.1035C>G p.V345= Synonymous 8/8 -
11-89531622-G-A TRIM49 c.1035C>T p.V345= Synonymous 8/8 -
15-82336155-G-A MEX3B c.1056C>T p.S352= Synonymous 2/2 -
16-71113831-G-A HYDIN c.1695C>T p.F565= Synonymous 13/86 -
11-89531622-G-T TRIM49 c.1035C>A p.V345= Synonymous 8/8 -
5-13708363-C-T DNAH5 c.13207G>A p.V4403I Missense 76/79 -
7-138223471-T-C TRIM24 c.1066T>C p.L356= Synonymous 7/19 -
5-140222899-G-A PCDHA8 c.1993G>A p.V665I Missense 1/4 -
15-82336155-G-C MEX3B c.1056C>G p.S352= Synonymous 2/2 -
10-94669289-C-G EXOC6 c.564C>G p.L188= Synonymous 6/22 -
10-94669289-C-A EXOC6 c.564C>A p.L188= Synonymous 6/22 -
10-69565423-C-G DNAJC12 c.420G>C p.L140= Synonymous 4/5 -
10-94669289-C-T EXOC6 c.564C>T p.L188= Synonymous 6/22 -
15-62232889-T-C VPS13C c.5558A>G p.Q1853R Missense 47/85 -
19-43420563-C-T PSG6 c.141G>A p.E47= Synonymous 2/6 -
14-100138714-C-T HHIPL1 c.1791C>T p.L597= Synonymous 8/9 -
10-69565423-C-T DNAJC12 c.420G>A p.L140= Synonymous 4/5 -
10-28908522-C-T WAC c.1931C>T p.S644F Missense 14/14 -
14-100138714-C-G HHIPL1 c.1791C>G p.L597= Synonymous 8/9 -
1-22186426-G-A HSPG2 c.5084C>T p.S1695F Missense 41/97 -
14-73989776-C-T HEATR4 c.81G>A p.M27I Missense 3/18 -
3-159711572-C-T IL12A c.547C>T p.P183S Missense 6/7 -
14-102516140-C-A DYNC1H1 c.13605C>A p.S4535= Synonymous 76/78 -
6-135239751-G-T ALDH8A1 c.1266C>A p.T422= Synonymous 7/7 -
9-107332148-A-G OR13C8 c.700A>G p.K234E Missense 1/1 -
6-135239751-G-C ALDH8A1 c.1266C>G p.T422= Synonymous 7/7 -
6-135239751-G-A ALDH8A1 c.1266C>T p.T422= Synonymous 7/7 -
1-236969521-C-G MTR c.327C>G p.G109= Synonymous 3/33 -
1-236969521-C-T MTR c.327C>T p.G109= Synonymous 3/33 -
2-140992424-A-G LRP1B c.13590T>C p.A4530= Synonymous 90/91 -
12-68595855-A-C IL26 c.372T>G p.C124W Missense 4/5 -
2-140992424-A-C LRP1B c.13590T>G p.A4530= Synonymous 90/91 -
1-154988084-C-T ZBTB7B c.948C>T p.A316= Synonymous 2/3 -
15-63084894-C-T TLN2 c.5791C>T p.L1931= Synonymous 43/56 -
2-140992424-A-T LRP1B c.13590T>A p.A4530= Synonymous 90/91 -
17-3593817-C-T P2RX5 c.437G>A p.G146E Missense 5/12 -
X-135741254-G-A CD40LG c.466G>A p.E156K Missense 5/5 -
19-2933820-G-C ZNF77 c.1305C>G p.P435= Synonymous 4/4 -
2-120848036-C-A EPB41L5 c.987C>A p.V329= Synonymous 12/25 -
12-109186438-G-A SSH1 c.1517C>T p.P506L Missense 14/15 -
19-20229344-C-T ZNF90 c.981C>T p.I327= Synonymous 4/4 -
1-34666413-G-A C1orf94 c.1050G>A p.G350= Synonymous 3/7 -
3-140401412-C-G TRIM42 c.450C>G p.S150R Missense 2/5 -
3-140401412-C-A TRIM42 c.450C>A p.S150R Missense 2/5 -
8-72973972-A-G TRPA1 c.832T>C p.F278L Missense 7/27 -
19-1218423-C-G STK11 c.298C>G p.Q100E Missense 2/10 -
1-236969521-C-A MTR c.327C>A p.G109= Synonymous 3/33 -
1-227935697-G-T SNAP47 c.395G>T p.R87L Missense 2/5 -
19-20229344-C-A ZNF90 c.981C>A p.I327= Synonymous 4/4 -
17-62019283-C-T SCN4A c.4359G>A p.A1453= Synonymous 24/24 -
9-15695335-G-A CCDC171 c.1318G>A p.G440S Missense 11/26 -
18-40851687-G-A SYT4 c.960C>T p.S320= Synonymous 3/4 -
17-62019283-C-A SCN4A c.4359G>T p.A1453= Synonymous 24/24 -
17-62019283-C-G SCN4A c.4359G>C p.A1453= Synonymous 24/24 -
17-27207754-G-C FLOT2 c.1225C>G p.L409V Missense 10/11 -
21-22790860-G-A NCAM2 c.1451G>A p.R484K Missense 11/18 -
16-28488894-G-T CLN3 c.1260C>A p.I420= Synonymous 16/16 -
3-41657178-G-T ULK4 c.3102C>A p.L1034= Synonymous 31/37 -
3-41657178-G-A ULK4 c.3102C>T p.L1034= Synonymous 31/37 -
20-33065628-C-T ITCH c.1621C>T p.P541S Missense 17/25 -
14-20612051-C-T OR4N5 c.157C>T p.P53S Missense 3/3 -
4-164394146-G-T TKTL2 c.741C>A p.F247L Missense 1/1 -
17-11547968-G-A DNAH9 c.1922G>A p.G641E Missense 11/69 -
11-100095532-C-A CNTN5 c.1993C>A p.L665I Missense 16/25 -
11-36522844-C-A TRAF6 c.222G>T p.L74F Missense 2/7 -
11-36522844-C-G TRAF6 c.222G>C p.L74F Missense 2/7 -
6-167755039-C-A TTLL2 c.1651C>A p.P551T Missense 3/3 -
4-100201373-C-G ADH1A c.892G>C p.D298H Missense 7/9 -
1-155290382-C-G FDPS c.1242C>G p.I414M Missense 11/11 -
11-6023396-G-A OR56A4 c.983C>T p.P276L Missense 3/3 -
19-39994914-G-C DLL3 c.856G>C p.G286R Missense 5/9 -
19-39994914-G-A DLL3 c.856G>A p.G286R Missense 5/9 -
22-30887918-C-T SEC14L4 c.814G>A p.E272K Missense 10/12 -
19-6161305-C-T ACSBG2 c.587C>T p.S196F Missense 6/15 -
5-34824301-C-T RAI14 c.2354C>T p.P785L Missense 15/18 -
19-34824655-C-T GARRE1 c.1310C>T p.P437L Missense 8/14 -
16-88901640-G-C GALNS c.879C>G p.L293= Synonymous 8/14 -
14-95906260-G-T SYNE3 c.2064C>A p.A688= Synonymous 12/18 -
11-93535041-G-A MED17 c.1369G>A p.D457N Missense 9/12 -
X-32591950-C-T DMD c.1616G>A p.R539Q Missense 14/79 -
20-54958130-C-A AURKA c.477G>T p.L159= Synonymous 5/9 -
20-54958130-C-G AURKA c.477G>C p.L159= Synonymous 5/9 -
3-169820624-G-A PHC3 c.2567C>T p.P856L Missense 13/15 -
19-55450449-C-T NLRP7 c.1738G>A p.E580K Missense 4/11 -
12-26806999-T-G ITPR2 c.2650A>C p.R884= Synonymous 21/57 -
5-140773137-G-C PCDHGA8 c.757G>C p.E253Q Missense 1/4 -
9-136338356-C-T SLC2A6 c.1239G>A p.W413* Nonsense 9/10 -
14-73140988-C-G DPF3 c.831G>C p.R277= Synonymous 8/11 -
22-46685302-C-T TTC38 c.1086C>T p.S362= Synonymous 12/14 -
11-64084357-C-G TRMT112 c.354G>C p.L118= Synonymous 4/4 -
22-46685302-C-A TTC38 c.1086C>A p.S362= Synonymous 12/14 -
22-46685302-C-G TTC38 c.1086C>G p.S362= Synonymous 12/14 -
1-212964980-C-G NSL1 c.126G>C p.S42= Synonymous 1/6 -
15-28458998-C-T HERC2 c.6676G>A p.D2226N Missense 42/93 -
1-212964980-C-T NSL1 c.126G>A p.S42= Synonymous 1/6 -
12-5154764-G-A KCNA5 c.1451G>A p.G484E Missense 1/1 -
10-107022089-G-A SORCS3 c.3444G>A p.R1148= Synonymous 26/27 -
10-101643844-C-T DNMBP c.3921G>A p.L1307= Synonymous 15/17 -
14-73140988-C-T DPF3 c.831G>A p.R277= Synonymous 8/11 -
17-4496331-G-C SMTNL2 c.595G>C p.A199P Missense 3/8 -
18-76753351-G-A SALL3 c.1360G>A p.G454R Missense 2/3 -
9-100124526-C-T CCDC180 c.3837C>T p.S1235= Synonymous 28/37 -
1-22207210-G-A HSPG2 c.1937C>T p.S646F Missense 15/97 -
3-98251218-C-T GPR15 c.341C>T p.S114F Missense 1/1 -
19-38951090-G-A RYR1 c.2436G>A p.E812= Synonymous 20/106 -
1-109884733-C-T SORT1 c.1011G>A p.W337* Nonsense 9/20 -
6-88210933-C-A SLC35A1 c.412C>A p.R138= Synonymous 4/8 -
2-109104245-C-G GCC2 c.4021C>G p.Q1341E Missense 17/23 -
8-42174385-C-T IKBKB c.1088C>T p.P363L Missense 11/22 -
1-19175955-C-T TAS1R2 c.1347G>A p.E449= Synonymous 4/6 -
2-61336378-C-T SANBR c.1691C>T p.S564F Missense 16/22 -
9-108137007-C-T SLC44A1 c.1623C>T p.F541= Synonymous 13/16 -
10-96609728-C-T CYP2C19 c.1204C>T p.P402S Missense 8/9 -
7-38500990-G-A AMPH c.910C>T p.P304S Missense 11/21 -
8-23711990-G-A STC1 c.47C>T p.S16F Missense 1/4 -
5-39202786-C-G FYB1 c.277G>C p.G93R Missense 2/19 -
3-129202332-C-T IFT122 c.1658C>T p.P553L Missense 15/30 -
17-9511528-A-G CFAP52 c.846A>G p.K282= Synonymous 7/14 -
10-64943288-G-A JMJD1C c.7003C>T p.L2335F Missense 22/26 -
6-37336430-C-G RNF8 c.411C>G p.S137= Synonymous 3/8 -
7-133984957-C-T SLC35B4 c.544G>A p.E182K Missense 7/10 -
6-37336430-C-A RNF8 c.411C>A p.S137= Synonymous 3/8 -
6-17817323-C-T KIF13A c.1928G>A p.S643N Missense 17/39 -
1-43396324-G-T SLC2A1 c.489C>A p.G163= Synonymous 4/10 -
11-113614675-G-A ZW10 c.1360C>T p.Q454* Nonsense 10/16 -
15-42174494-C-T SPTBN5 c.2220G>A p.R740= Synonymous 11/68 -
15-99459200-C-A IGF1R c.1836C>A p.S612= Synonymous 9/21 -
6-37336430-C-T RNF8 c.411C>T p.S137= Synonymous 3/8 -
9-86559738-G-A C9orf64 c.764C>T p.S255F Missense 3/4 -
4-114238871-C-T ANK2 c.2702C>T p.S901F Missense 25/46 -
2-202216086-G-A FLACC1 c.42C>T p.P14= Synonymous 2/15 -
5-39202786-C-T FYB1 c.277G>A p.G93R Missense 2/19 -
1-43396324-G-A SLC2A1 c.489C>T p.G163= Synonymous 4/10 -
2-233925247-C-T INPP5D c.59C>T p.S20F Missense 1/28 -
12-14959314-C-T SMCO3 c.301G>A p.D101N Missense 2/2 -
2-202216086-G-T FLACC1 c.42C>A p.P14= Synonymous 2/15 -
4-173734734-C-A GALNTL6 c.783C>A p.I261= Synonymous 7/13 -
20-41076902-C-T PTPRT c.1518G>A p.W506* Nonsense 9/31 -
21-47704296-C-T MCM3AP c.905G>A p.R302K Missense 1/28 -
X-67944222-C-A STARD8 c.3270C>A p.S1090= Synonymous 15/15 -
6-70034817-C-T ADGRB3 c.2868C>T p.F956= Synonymous 21/32 -
X-67944222-C-G STARD8 c.3270C>G p.S1090= Synonymous 15/15 -
8-124664897-G-A KLHL38 c.270C>T p.S90= Synonymous 2/4 -
14-95912298-C-T SYNE3 c.1580G>A p.R527K Missense 9/18 -
11-117335844-T-G DSCAML1 c.3079A>C p.R1027= Synonymous 17/33 -
11-121037444-C-G TECTA c.5541C>G p.S1847= Synonymous 18/24 -
2-162728823-C-T SLC4A10 c.787C>T p.Q263* Nonsense 7/27 -
8-133920583-C-T TG c.4000C>T p.Q1334* Nonsense 18/48 -
7-113518404-G-A PPP1R3A c.2743C>T p.P915S Missense 4/4 -
6-121625569-G-A TBC1D32 c.877C>T p.R293C Missense 8/32 -
16-71602708-C-T TAT c.1130G>A p.G377E Missense 11/12 -
2-158272569-G-A CYTIP c.700C>T p.L234F Missense 8/8 -
3-179533651-C-T PEX5L c.1081G>A p.E361K Missense 10/15 -
19-32973072-C-T DPY19L3 c.2077C>T p.P693S Missense 19/19 -
5-169101324-C-G DOCK2 c.345C>G p.L115= Synonymous 6/52 -
10-96522607-G-A CYP2C19 c.145G>A p.D49N Missense 1/9 -
7-138223473-G-A TRIM24 c.1068G>A p.L356= Synonymous 7/19 -
19-39306309-C-T ECH1 c.931G>A p.V311I Missense 10/10 -
1-21011406-G-A KIF17 c.2127C>T p.P709= Synonymous 10/15 -
11-119031672-C-T ABCG4 c.1797C>T p.F599= Synonymous 15/15 -
7-94181721-G-A CASD1 c.2016G>A p.P672= Synonymous 16/18 -
6-123319201-C-T CLVS2 c.279C>T p.D93= Synonymous 2/6 -
12-15739886-G-A PTPRO c.3311G>A p.G1104D Missense 24/27 -
9-123903693-C-T CNTRL c.2518C>T p.L840F Missense 18/44 -
9-100692584-T-C HEMGN c.1093A>G p.K365E Missense 3/4 -
9-99581053-C-T ZNF782 c.1252G>A p.G418R Missense 6/6 -
9-99581053-C-G ZNF782 c.1252G>C p.G418R Missense 6/6 -
13-42393495-G-A VWA8 c.1728C>T p.F576= Synonymous 15/45 -
8-61765468-C-T CHD7 c.6184C>T p.R2062W Missense 31/38 -
1-201297903-G-A PKP1 c.2120G>A p.R707K Missense 13/14 -
7-38796567-C-G VPS41 c.1566G>C p.K522N Missense 19/29 -
7-72738576-G-A TRIM50 c.210C>T p.S70= Synonymous 2/7 -
3-11078591-C-T SLC6A1 c.1739C>T p.P580L Missense 16/16 -
22-41322366-C-T XPNPEP3 c.1451C>T p.S484L Missense 10/10 -
2-141122335-C-A LRP1B c.11026G>T p.A3676S Missense 72/91 -
3-119456222-G-A CFAP91 c.1354G>A p.D452N Missense 11/18 -
11-40136259-G-T LRRC4C c.1584C>A p.I528= Synonymous 7/7 -
3-129207107-C-T IFT122 c.1859C>T p.P620L Missense 16/30 -
5-13886133-C-T DNAH5 c.2683G>A p.E895K Missense 18/79 -
3-38207403-C-A OXSR1 c.36C>A p.I12= Synonymous 1/18 -
12-53879962-C-T MAP3K12 c.699G>A p.E233= Synonymous 4/14 -
19-56466577-G-A NLRP8 c.1153G>A p.E385K Missense 3/10 -
11-108302513-C-A C11orf65 c.134G>T p.G45V Missense 3/9 -
3-136574502-G-A SLC35G2 c.1200G>A p.K400= Synonymous 2/2 -
14-58838664-C-T ARID4A c.3731C>T p.S1244L Missense 24/24 -
10-88696688-C-T MMRN2 c.2662G>A p.V888M Missense 7/7 -
8-128428252-C-T POU5F1B c.141C>T p.I47= Synonymous 1/1 -
6-24596515-G-A KIAA0319 c.387C>T p.I129= Synonymous 3/21 -
8-128428252-C-A POU5F1B c.141C>A p.I47= Synonymous 1/1 -
6-24596515-G-T KIAA0319 c.387C>A p.I129= Synonymous 3/21 -
6-42936141-G-A PEX6 c.1575C>T p.V525= Synonymous 7/17 -
8-49833814-G-A SNAI2 c.11C>T p.S4F Missense 1/3 -
20-25319948-G-A ABHD12 c.231C>T p.F77= Synonymous 2/13 -
6-143091613-G-A HIVEP2 c.4263C>T p.I1421= Synonymous 5/10 -
20-5283325-G-A PROKR2 c.516C>T p.F172= Synonymous 3/3 -
12-46285685-T-A ARID2 c.5045T>A p.F1682Y Missense 17/21 -
7-1027077-C-T CYP2W1 c.1053C>T p.L351= Synonymous 7/9 -
9-138650331-C-A KCNT1 c.831C>A p.T277= Synonymous 10/31 -
7-1027077-C-G CYP2W1 c.1053C>G p.L351= Synonymous 7/9 -
17-64683304-C-T PRKCA c.605C>T p.P202L Missense 6/17 -
6-143091613-G-T HIVEP2 c.4263C>A p.I1421= Synonymous 5/10 -
19-14157319-G-C IL27RA c.1030G>C p.G344R Missense 8/14 -
2-74759008-C-T HTRA2 c.1071C>T p.S357= Synonymous 6/8 -
6-76386793-C-T SENP6 c.1669C>T p.P557S Missense 14/24 -
14-51196241-C-T NIN c.6078G>A p.Q2026= Synonymous 29/31 -
3-16343257-C-T OXNAD1 c.557C>T p.S186F Missense 7/9 -
2-74759008-C-A HTRA2 c.1071C>A p.S357= Synonymous 6/8 -
2-74759008-C-G HTRA2 c.1071C>G p.S357= Synonymous 6/8 -
12-123481401-G-A PITPNM2 c.1529C>T p.P510L Missense 12/26 -
1-92149381-G-T TGFBR3 c.2471C>A p.S824Y Missense 17/17 -
3-148778597-A-G HLTF c.1209T>C p.I403= Synonymous 11/25 -
15-79339233-C-T RASGRF1 c.733G>A p.V245M Missense 5/27 -
3-148778597-A-T HLTF c.1209T>A p.I403= Synonymous 11/25 -
2-138771643-G-A HNMT c.822G>A p.K274= Synonymous 6/6 -
19-21132205-T-C ZNF85 c.885T>C p.F295= Synonymous 4/4 -
14-23392346-C-T PRMT5 c.1399G>A p.E467K Missense 13/17 -
8-12293843-C-T FAM86B2 c.10G>A p.E4K Missense 1/8 -
10-73046521-C-T UNC5B c.628C>T p.L210F Missense 5/17 -
12-29509370-G-A ERGIC2 c.517C>T p.H173Y Missense 8/14 -
10-6104088-T-A IL2RA c.27A>T p.G9= Synonymous 1/8 -
3-186460065-C-T KNG1 c.1880C>T p.P627L Missense 10/10 -
20-47309223-C-A PREX1 c.1023G>T p.V341= Synonymous 8/40 -
20-47309223-C-G PREX1 c.1023G>C p.V341= Synonymous 8/40 -
20-47309223-C-T PREX1 c.1023G>A p.V341= Synonymous 8/40 -
17-41879150-C-T MPP3 c.1677G>A p.Q559= Synonymous 20/20 -
16-532655-C-T RAB11FIP3 c.1034C>T p.A345V Missense 4/14 -
2-179604819-C-T TTN c.13141G>A p.E4381K Missense 48/363 -
3-48607043-C-G COL7A1 c.7596G>C p.R2532= Synonymous 102/119 -
16-68225544-C-T NFATC3 c.2972C>T p.S991F Missense 9/10 -
3-48607043-C-A COL7A1 c.7596G>T p.R2532= Synonymous 102/119 -
10-96748621-G-A CYP2C9 c.1309G>A p.G437R Missense 9/9 -
10-96748621-G-C CYP2C9 c.1309G>C p.G437R Missense 9/9 -
22-29628317-G-A EMID1 c.749G>A p.G250E Missense 8/15 -
14-92470912-C-G TRIP11 c.3408G>C p.L1136= Synonymous 11/21 -
8-72973970-A-T TRPA1 c.834T>A p.F278L Missense 7/27 -
7-131831417-G-A PLXNA4 c.4907C>T p.S1636L Missense 28/32 -
8-113697813-C-A CSMD3 c.2304G>T p.L768= Synonymous 15/71 -
8-113697813-C-G CSMD3 c.2304G>C p.L768= Synonymous 15/71 -
8-72973970-A-C TRPA1 c.834T>G p.F278L Missense 7/27 -
1-45292715-G-A PTCH2 c.2554C>T p.P852S Missense 17/22 -
8-113697813-C-T CSMD3 c.2304G>A p.L768= Synonymous 15/71 -
1-48999894-C-T AGBL4 c.1463G>A p.G488E Missense 14/14 -
7-92760683-G-A SAMD9L c.4602C>T p.I1534= Synonymous 5/5 -
19-12858368-G-A GET3 c.877G>A p.E293K Missense 6/7 -
6-151670835-G-A AKAP12 c.1309G>A p.E437K Missense 4/5 -
20-3683950-G-C SIGLEC1 c.1122C>G p.T374= Synonymous 6/22 -
20-3683950-G-A SIGLEC1 c.1122C>T p.T374= Synonymous 6/22 -
8-39564406-G-A ADAM18 c.2000G>A p.G667E Missense 18/20 -
9-72914988-G-C SMC5 c.1336G>C p.D446H Missense 10/25 -
3-154147156-C-A GPR149 c.249G>T p.L83= Synonymous 1/4 -
5-140249747-C-G PCDHA11 c.1059C>G p.S353= Synonymous 1/4 -
5-5465212-T-C ICE1 c.5765T>C p.I1922T Missense 13/19 -
2-236945222-G-C AGAP1 c.1663G>C p.E555Q Missense 14/18 -
5-1217001-C-T SLC6A19 c.1114C>T p.P372S Missense 8/12 -
1-229654598-C-A ABCB10 c.1975G>T p.E659* Nonsense 12/13 -
17-17721678-G-C SREBF1 c.1079C>G p.S360C Missense 6/19 -
5-64956690-G-A TRAPPC13 c.863G>A p.R288K Missense 10/13 -
10-118220528-C-T PNLIPRP3 c.616C>T p.L206= Synonymous 6/12 -
1-40131868-C-T NT5C1A c.176G>A p.R59Q Missense 2/6 -
19-56424379-G-T NLRP13 c.804C>A p.L268= Synonymous 5/11 -
19-56424379-G-C NLRP13 c.804C>G p.L268= Synonymous 5/11 -
19-56424379-G-A NLRP13 c.804C>T p.L268= Synonymous 5/11 -
11-64882979-G-C TM7SF2 c.1005G>C p.R335= Synonymous 9/10 -
9-15469038-C-T PSIP1 c.1123G>A p.E375K Missense 13/16 -
3-20164262-C-T KAT2B c.1379C>T p.T460I Missense 9/18 -
3-183535808-C-T MAP6D1 c.493G>A p.D165N Missense 2/3 -
9-135564290-A-G GTF3C4 c.2427A>G p.L809= Synonymous 5/5 -
11-64882979-G-A TM7SF2 c.1005G>A p.R335= Synonymous 9/10 -
3-132294687-C-A ACAD11 c.1930G>T p.E644* Nonsense 17/20 -
4-175565080-T-G GLRA3 c.1252A>C p.R418= Synonymous 10/10 -
3-169998141-C-T PRKCI c.832C>T p.R278C Missense 9/18 -
9-104133228-G-A BAAT c.459C>T p.L153= Synonymous 2/4 -
9-104133228-G-T BAAT c.459C>A p.L153= Synonymous 2/4 -
21-46207982-A-G UBE2G2 c.72T>C p.I24= Synonymous 2/6 -
3-142567092-C-T PCOLCE2 c.415G>A p.A139T Missense 3/9 -
14-93407912-G-T ITPK1 c.1239C>A p.S413= Synonymous 11/11 -
14-93407912-G-A ITPK1 c.1239C>T p.S413= Synonymous 11/11 -
14-93407912-G-C ITPK1 c.1239C>G p.S413= Synonymous 11/11 -
5-82649036-C-T XRCC4 c.980C>T p.P327L Missense 8/8 -
21-46207982-A-T UBE2G2 c.72T>A p.I24= Synonymous 2/6 -
11-118967902-G-A DPAGT1 c.1111C>T p.L371F Missense 8/9 -
14-24033042-G-A AP1G2 c.1115C>T p.A372V Missense 12/22 -
11-66468562-C-T SPTBN2 c.3008G>A p.G1003D Missense 17/38 -
1-111957610-C-T OVGP1 c.1513G>A p.G505R Missense 11/11 -
5-96328824-C-T LNPEP c.1237C>T p.P413S Missense 5/18 -
15-48414124-C-A SLC24A5 c.192C>A p.R64= Synonymous 2/9 -
1-152732874-C-G KPRP c.810C>G p.S270= Synonymous 2/2 -
15-48414124-C-G SLC24A5 c.192C>G p.R64= Synonymous 2/9 -
15-31200439-G-A FAN1 c.1353G>A p.T451= Synonymous 3/15 -
15-48414124-C-T SLC24A5 c.192C>T p.R64= Synonymous 2/9 -
15-31200439-G-C FAN1 c.1353G>C p.T451= Synonymous 3/15 -
2-27263260-G-C TMEM214 c.1839G>C p.L613= Synonymous 16/17 -
2-27263260-G-A TMEM214 c.1839G>A p.L613= Synonymous 16/17 -
2-27263260-G-T TMEM214 c.1839G>T p.L613= Synonymous 16/17 -
X-96167363-C-A DIAPH2 c.624C>A p.L208= Synonymous 6/27 -
2-102626097-C-G IL1R2 c.141C>G p.A47= Synonymous 3/9 -
3-169700519-C-T SEC62 c.276C>T p.H92= Synonymous 4/8 -
14-77942302-C-T ISM2 c.1352G>A p.R451H Missense 7/7 -
1-152732874-C-T KPRP c.810C>T p.S270= Synonymous 2/2 -
6-97247435-G-A GPR63 c.173C>T p.S58F Missense 2/2 -
10-134161572-G-A LRRC27 c.638G>A p.G213E Missense 6/11 -
4-2130955-G-C POLN c.1818C>G p.S606= Synonymous 18/26 -
4-173734805-G-A GALNTL6 c.854G>A p.W285* Nonsense 7/13 -
18-77488911-G-A CTDP1 c.2422G>A p.V808I Missense 11/13 -
22-41566486-C-A EP300 c.4363C>A p.Q1455K Missense 27/31 -
17-43006277-C-T KIF18B c.1633G>A p.E545K Missense 12/16 -
20-1471959-G-A SIRPB2 c.47C>T p.P16L Missense 1/5 -
11-57268800-C-T SLC43A1 c.157G>A p.E53K Missense 3/15 -
1-120284502-G-T PHGDH c.1191G>T p.V397= Synonymous 10/12 -
1-120284502-G-C PHGDH c.1191G>C p.V397= Synonymous 10/12 -
11-125359571-G-A FEZ1 c.103C>T p.P35S Missense 2/10 -
8-26627900-G-A ADRA1A c.1167C>T p.S389= Synonymous 3/3 -
18-33573208-C-A RPRD1A c.845G>T p.R282L Missense 7/7 -
8-26627900-G-C ADRA1A c.1167C>G p.S389= Synonymous 3/3 -
8-26627900-G-T ADRA1A c.1167C>A p.S389= Synonymous 3/3 -
5-41008771-G-A MROH2B c.3545C>T p.P1182L Missense 33/42 -
12-101764215-G-C UTP20 c.6561G>C p.V2187= Synonymous 50/62 -
12-101764215-G-T UTP20 c.6561G>T p.V2187= Synonymous 50/62 -
1-26368207-G-A SLC30A2 c.822C>T p.I274= Synonymous 6/8 -
15-63932544-GG-AA HERC1 c.11707_11708delCCinsTT p.P3903F Missense 61/78 -
12-94072788-C-T CRADD c.238C>T p.P80S Missense 2/3 -
6-26045880-C-T H3C3 c.242C>T p.T81I Missense 1/1 -
15-91488214-C-T UNC45A c.1120C>T p.L374F Missense 9/20 -
16-20787174-C-T ACSM3 c.233C>T p.P78L Missense 3/14 -
19-23543743-G-C ZNF91 c.2038C>G p.H680D Missense 4/4 -
19-9070836-GG-AA MUC16 c.16609_16610delCCinsTT p.P5537F Missense 3/84 -
20-34302155-C-G RBM39 c.1048G>C p.D350H Missense 11/17 -
8-110394693-G-T PKHD1L1 c.310G>T p.A104S Missense 4/78 -
19-54652098-C-G CNOT3 c.1110C>G p.P370= Synonymous 11/18 -
15-49030717-T-A CEP152 c.4862A>T p.E1621V Missense 27/27 -
19-54652098-C-T CNOT3 c.1110C>T p.P370= Synonymous 11/18 -
19-54652098-C-A CNOT3 c.1110C>A p.P370= Synonymous 11/18 -
19-14165031-C-G PALM3 c.1453G>C p.G485R Missense 7/7 -
3-169710637-A-G SEC62 c.986A>G p.N329S Missense 8/8 -
19-14165031-C-T PALM3 c.1408G>A p.G485R Missense 7/7 -
2-179636087-C-T TTN c.7967G>A p.G2656D Missense 34/363 -
5-150518998-C-T ANXA6 c.120G>A p.K40= Synonymous 4/26 -
8-126379036-CG-TC NSMCE2 c.653_654delCGinsTC p.T218I Missense 8/8 -
6-158449951-G-C SYNJ2 c.378G>C p.S126= Synonymous 3/27 -
4-70156380-G-C UGT2B28 c.1161G>C p.G387= Synonymous 5/6 -
19-22154119-G-T ZNF208 c.3717C>A p.I1239= Synonymous 4/4 -
20-2775243-C-T CPXM1 c.1903G>A p.E635K Missense 13/14 -
6-158449951-G-A SYNJ2 c.378G>A p.S126= Synonymous 3/27 -
19-19230838-G-A TMEM161A c.1341C>T p.L447= Synonymous 12/12 -
1-248223986-G-C OR2L3 c.3G>C p.M1? Missense 2/2 -
1-248223986-G-A OR2L3 c.3G>A p.M1? Missense 2/2 -
4-70156380-G-A UGT2B28 c.1161G>A p.G387= Synonymous 5/6 -
11-114569220-CC-TT NXPE2 c.586_587delCCinsTT p.P196F Missense 3/6 -
6-158449951-G-T SYNJ2 c.378G>T p.S126= Synonymous 3/27 -
4-70156380-G-T UGT2B28 c.1161G>T p.G387= Synonymous 5/6 -
7-82785055-G-A PCLO c.902C>T p.P301L Missense 2/25 -
17-79988006-G-A LRRC45 c.1560G>A p.Q520= Synonymous 15/17 -
1-59148120-G-C MYSM1 c.596C>G p.S199* Nonsense 8/20 -
17-7578483-TGG-T TP53 c.446_447delCC p.S149Yfs*31 Frameshift 5/11 -
11-7110627-C-T RBMXL2 c.276C>T p.S92= Synonymous 1/1 -
6-12123436-C-A HIVEP1 c.3408C>A p.I1136= Synonymous 4/9 -
15-44211688-C-T FRMD5 c.298G>A p.D100N Missense 4/14 -
4-108535438-C-A PAPSS1 c.1842G>T p.L614= Synonymous 12/12 -
22-29886620-C-A NEFH c.2991C>A p.S997= Synonymous 4/4 -
4-108535438-C-T PAPSS1 c.1842G>A p.L614= Synonymous 12/12 -
X-64722647-C-T ZC3H12B c.2069C>T p.P690L Missense 5/5 -
1-20879668-G-A FAM43B c.202G>A p.E68K Missense 1/1 -
2-179449612-C-T TTN c.64756G>A p.E21586K Missense 310/363 -
1-119929368-G-A HAO2 c.685G>A p.D229N Missense 5/8 -
15-34102837-C-T RYR3 c.10184C>T p.S3395L Missense 71/104 -
8-139890125-C-T COL22A1 c.526G>A p.G176S Missense 3/65 -
7-103180682-C-T RELN c.6892G>A p.E2298K Missense 44/65 -
5-160044942-G-A ATP10B c.2455C>T p.R819* Nonsense 16/26 -
1-32739989-G-T LCK c.59G>T p.C20F Missense 2/13 -
7-107314684-C-T SLC26A4 c.491C>T p.S164F Missense 5/21 -
10-96484107-A-T CYP2C18 c.966A>T p.K322N Missense 7/9 -
5-54468820-C-T CDC20B c.9G>A p.W3* Nonsense 1/12 -
2-99274691-G-A MGAT4A c.574C>T p.L192= Synonymous 6/16 -
11-66610978-G-A RCE1 c.52G>A p.E18K Missense 1/8 -
12-71965322-T-C LGR5 c.1099T>C p.L367= Synonymous 12/18 -
11-55761829-G-C OR5F1 c.273C>G p.T91= Synonymous 1/1 -
2-227661627-C-T IRS1 c.1828G>A p.D610N Missense 1/2 -
2-203747480-G-A WDR12 c.1148C>T p.A383V Missense 12/13 -
19-13322954-C-T CACNA1A c.6266G>A p.R2089Q Missense 43/47 -
11-55761829-G-T OR5F1 c.273C>A p.T91= Synonymous 1/1 -
12-21377713-G-C SLCO1B1 c.1805G>C p.W602S Missense 14/15 -
11-55761829-G-A OR5F1 c.273C>T p.T91= Synonymous 1/1 -
6-161969940-C-T PRKN c.1029G>A p.P343= Synonymous 9/12 -
14-29237702-C-T FOXG1 c.1217C>T p.S406F Missense 1/1 -
3-111710533-G-T ABHD10 c.886G>T p.D296Y Missense 5/5 -
11-46776603-C-G CKAP5 c.4704G>C p.L1568= Synonymous 36/44 -
7-23213805-C-T KLHL7 c.1649C>T p.T550I Missense 11/11 -
9-135173523-G-T SETX c.5725C>A p.P1909T Missense 13/26 -
4-55972034-C-T KDR c.1610G>A p.G537E Missense 12/30 -
13-73355059-G-A DIS3 c.311C>T p.P104L Missense 2/21 -
9-114429186-C-A GNG10 c.173C>A p.P58H Missense 2/3 -
2-238280666-T-G COL6A3 c.3994A>C p.I1332L Missense 9/44 -
16-88901632-G-A GALNS c.887C>T p.A296V Missense 8/14 -
1-151105758-C-G SEMA6C c.1995G>C p.P665= Synonymous 19/19 -
12-43770388-G-C ADAMTS20 c.5064C>G p.S1688= Synonymous 33/39 -
19-40382664-G-A FCGBP c.10222C>T p.L3408F Missense 22/36 -
12-94761580-G-C CEP83 c.1333C>G p.Q445E Missense 11/17 -
13-36905580-G-A SPART c.964C>T p.L322F Missense 3/9 -
4-6865642-G-A KIAA0232 c.3533G>A p.R1178K Missense 7/10 -
9-119109362-T-A PAPPA c.3838T>A p.C1280S Missense 15/22 -
11-124440859-C-T OR8A1 c.895C>T p.P282S Missense 1/1 -
5-112379295-G-T MCC c.2688C>A p.S896= Synonymous 17/19 -
16-76501376-G-A CNTNAP4 c.1610G>A p.G536G Missense 11/25 -
20-43610556-C-G STK4 c.332C>G p.S111C Missense 4/11 -
7-7559736-C-T COL28A1 c.770G>A p.G257E Missense 6/35 -
12-43770388-G-T ADAMTS20 c.5064C>A p.S1688= Synonymous 33/39 -
16-1129274-G-A SSTR5 c.406G>A p.D136N Missense 2/2 -
3-170720407-G-A SLC2A2 c.1026C>T p.T342= Synonymous 8/11 -
10-37505135-G-C ANKRD30A c.2728G>C p.D966H Missense 32/36 -
7-48267014-C-A ABCA13 c.624C>A p.T208= Synonymous 6/62 -
3-170720407-G-T SLC2A2 c.1026C>A p.T342= Synonymous 8/11 -
3-57543217-G-C PDE12 c.1111G>C p.E371Q Missense 1/3 -
4-186446235-G-C PDLIM3 c.184C>G p.H62D Missense 2/8 -
11-1249836-G-A MUC5B c.817G>A p.E273K Missense 8/49 -
5-140501706-C-T PCDHB4 c.126C>T p.S42= Synonymous 1/1 -
2-40397471-T-A SLC8A1 c.1988A>T p.K663M Missense 7/11 -
1-245849956-C-T KIF26B c.3671C>T p.S1224L Missense 12/15 -
5-140501706-C-A PCDHB4 c.126C>A p.S42= Synonymous 1/1 -
12-6127600-G-C VWF c.4984C>G p.P1662A Missense 28/52 -
1-48825338-G-A SPATA6 c.1014C>T p.T338= Synonymous 10/13 -
1-84955335-C-G RPF1 c.386C>G p.T129R Missense 4/9 -
2-179452053-C-G TTN c.63885G>C p.G21295= Synonymous 307/363 -
5-147494010-G-A SPINK5 c.1973G>A p.G658D Missense 21/33 -
11-534285-C-CCACCTG HRAS c.37_38insCAGGTG p.A11_G12dup InFrameInsertion 2/6 -
10-127555681-G-A DHX32 c.354C>T p.V118= Synonymous 2/11 -
X-79698201-G-A TENT5D c.163G>A p.G55R Missense 3/3 -
X-79698201-G-C TENT5D c.163G>C p.G55R Missense 3/3 -
10-127555681-G-T DHX32 c.354C>A p.V118= Synonymous 2/11 -
10-127555681-G-C DHX32 c.354C>G p.V118= Synonymous 2/11 -
5-134331986-C-G CATSPER3 c.276C>G p.S92= Synonymous 3/8 -
2-235951324-C-T SH3BP4 c.1911C>T p.S637= Synonymous 4/6 -
2-235951324-C-A SH3BP4 c.1911C>A p.S637= Synonymous 4/6 -
6-74472156-C-T CD109 c.808C>T p.P270S Missense 8/33 -
1-26515109-G-T CNKSR1 c.1611G>T p.G537= Synonymous 19/21 -
1-26515109-G-A CNKSR1 c.1611G>A p.G537= Synonymous 19/21 -
2-196689106-G-A DNAH7 c.9164C>T p.T3055I Missense 49/65 -
5-169685070-G-C LCP2 c.1071C>G p.S357= Synonymous 16/21 -
17-7918358-G-A GUCY2D c.2758G>A p.D920N Missense 14/20 -
11-55032413-G-A TRIM48 c.82G>A p.E28K Missense 2/6 -
2-120980532-G-T TMEM185B c.21C>A p.F7L Missense 1/1 -
5-169685070-G-A LCP2 c.1071C>T p.S357= Synonymous 16/21 -
11-55111320-C-T OR4A16 c.644C>T p.S215F Missense 1/1 -
2-179433209-C-T TTN c.77650G>A p.E25884K Missense 326/363 -
11-119029350-C-A ABCG4 c.1251C>A p.A417= Synonymous 11/15 -
19-7677948-G-A CAMSAP3 c.2569G>A p.E857K Missense 11/17 -
5-134331986-C-T CATSPER3 c.276C>T p.S92= Synonymous 3/8 -
5-124080560-C-T ZNF608 c.123G>A p.L41= Synonymous 2/10 -
9-131708721-G-T DOLK c.862C>A p.L288I Missense 1/1 -
10-44140034-C-A ZNF32 c.286G>T p.E96* Nonsense 3/3 -
13-29599194-G-A MTUS2 c.389G>A p.S120N Missense 3/16 -
22-29834940-G-A RFPL1 c.160G>A p.E54K Missense 1/2 -
19-7755402-G-A FCER2 c.511C>T p.Q171* Nonsense 9/11 -
1-157718704-T-C FCRL2 c.1354A>G p.T452A Missense 9/12 -
5-55260098-G-C IL6ST c.534C>G p.T178= Synonymous 6/17 -
17-43531088-C-T PLEKHM1 c.2130G>A p.L710= Synonymous 7/12 -
20-47839538-G-A DDX27 c.378G>A p.K95= Synonymous 3/21 -
7-107002521-C-G COG5 c.1076G>C p.R328T Missense 10/22 -
17-43531088-C-G PLEKHM1 c.2130G>C p.L710= Synonymous 7/12 -
17-43531088-C-A PLEKHM1 c.2130G>T p.L710= Synonymous 7/12 -
19-4433255-C-T CHAF1A c.2392C>T p.L798F Missense 13/15 -
15-75932199-G-A IMP3 c.311C>T p.S104L Missense 1/1 -
19-48638972-C-A LIG1 c.1488G>T p.L496= Synonymous 16/28 -
6-51732873-A-T PKHD1 c.7521T>A p.F2507L Missense 48/67 -
20-47871087-G-T ZNFX1 c.2904C>A p.L968= Synonymous 10/14 -
16-83998922-G-T OSGIN1 c.744G>T p.T248= Synonymous 6/6 -
1-216166398-A-G USH2A c.6769T>C p.F2257L Missense 35/72 -
2-167266799-C-T SCN7A c.3642G>A p.Q1214= Synonymous 24/26 -
14-76437980-T-C TGFB3 c.434A>G p.N145S Missense 2/7 -
16-313711-C-T FAM234A c.1125C>T p.F375= Synonymous 10/13 -
11-59480755-C-T OR10V1 c.564G>A p.L188= Synonymous 1/1 -
11-59480755-C-G OR10V1 c.564G>C p.L188= Synonymous 1/1 -
17-21207804-G-A MAP2K3 c.635G>A p.S212N Missense 8/12 -
16-12798789-G-A CPPED1 c.407C>T p.A136V Missense 3/4 -
22-38271964-C-A EIF3L c.1023C>A p.L341= Synonymous 10/13 -
11-59480755-C-A OR10V1 c.564G>T p.L188= Synonymous 1/1 -
6-4053039-T-G PRPF4B c.2398T>G p.F800V Missense 11/15 -
3-121980726-G-A CASR c.844G>A p.E282K Missense 4/7 -
1-229783411-C-T URB2 c.4061C>T p.P1354L Missense 7/10 -
16-89347667-G-A ANKRD11 c.5283C>T p.F1761= Synonymous 9/13 -
19-58089425-C-T ZNF416 c.75G>A p.Q25= Synonymous 2/4 -
15-25959170-G-T ATP10A c.1995C>A p.I665= Synonymous 10/21 -
19-22155088-G-C ZNF208 c.2748C>G p.P916= Synonymous 4/4 -
19-22155088-G-A ZNF208 c.2748C>T p.P916= Synonymous 4/4 -
11-10648010-C-T IRAG1 c.871G>A p.E291K Missense 9/21 -
19-22155088-G-T ZNF208 c.2748C>A p.P916= Synonymous 4/4 -
1-74492519-A-G LRRIQ3 c.1853T>C p.V618A Missense 8/8 -
7-44091510-C-T DBNL c.221C>T p.S74F Missense 3/13 -
3-130104126-G-C COL6A5 c.1780G>C p.E594Q Missense 5/41 -
4-164394148-A-G TKTL2 c.739T>C p.F247L Missense 1/1 -
11-57947594-G-T OR9Q1 c.678G>T p.M226I Missense 3/3 -
4-71509043-G-A ENAM c.1900G>A p.E634K Missense 9/9 -
11-57947594-G-C OR9Q1 c.678G>C p.M226I Missense 3/3 -
15-42163991-C-T SPTBN5 c.5290G>A p.E1764K Missense 28/68 -
4-159816933-A-G FNIP2 c.3182A>G p.E1061G Missense 16/17 -
11-57947594-G-A OR9Q1 c.678G>A p.M226I Missense 3/3 -
17-7577539-G-T TP53 c.742C>A p.R248= Synonymous 7/11 -
17-7577528-GATGGGCCTCCGGTTC-G TP53 c.738_752del15 p.M246_P250del InFrameDeletion 7/11 -
4-114824804-A-T ARSJ c.426T>A p.H142Q Missense 2/2 -
6-123376974-G-C CLVS2 c.699G>C p.L233= Synonymous 5/6 -
4-114824804-A-C ARSJ c.426T>G p.H142Q Missense 2/2 -
19-54401876-G-A PRKCG c.1275G>A p.Q425= Synonymous 11/18 -
5-41018857-C-T MROH2B c.2609G>A p.G870E Missense 26/42 -
11-6291080-C-G CCKBR c.333C>G p.T111= Synonymous 2/5 -
2-32475213-C-T NLRC4 c.1720G>A p.E574K Missense 4/9 -
22-44322909-C-A PNPLA3 c.282C>A p.L94= Synonymous 2/9 -
22-44322909-C-G PNPLA3 c.282C>G p.L94= Synonymous 2/9 -
18-74153527-G-A ZNF516 c.1484C>T p.P495L Missense 3/8 -
11-59224674-T-C OR4D6 c.241T>C p.F81L Missense 1/1 -
4-76852435-A-T NAAA c.521T>A p.F174Y Missense 4/11 -
22-21983664-G-A YDJC c.357C>T p.C119= Synonymous 3/5 -
21-45707002-G-T AIRE c.449G>T p.G150V Missense 3/14 -
2-39224517-G-C SOS1 c.2841C>G p.V947= Synonymous 18/23 -
18-12030391-G-A IMPA2 c.801G>A p.R267= Synonymous 8/8 -
9-113530254-C-T MUSK c.1075C>T p.L359= Synonymous 9/15 -
19-33535175-G-C RHPN2 c.165C>G p.T55= Synonymous 2/15 -
1-155252291-C-A HCN3 c.368C>A p.S123Y Missense 2/8 -
19-33535175-G-A RHPN2 c.165C>T p.T55= Synonymous 2/15 -
19-1555967-C-A MEX3D c.1551G>T p.L517= Synonymous 2/2 -
19-46375408-C-T FOXA3 c.145C>T p.P49S Missense 2/2 -
19-1555967-C-T MEX3D c.1551G>A p.L517= Synonymous 2/2 -
16-23080783-G-C USP31 c.2643C>G p.S881= Synonymous 16/16 -
22-38271964-C-T EIF3L c.1023C>T p.L341= Synonymous 10/13 -
22-38271964-C-G EIF3L c.1023C>G p.L341= Synonymous 10/13 -
8-6793552-C-G DEFA4 c.284G>C p.R95P Missense 3/3 -
1-111890311-T-A PIFO c.175T>A p.Y59N Missense 3/6 -
1-22160045-G-A HSPG2 c.10893C>T p.V3631= Synonymous 79/97 -
15-90611222-C-T ZNF710 c.853C>T p.L285= Synonymous 2/5 -
11-17428612-G-T ABCC8 c.2985C>A p.I995= Synonymous 25/39 -
11-17428612-G-A ABCC8 c.2985C>T p.I995= Synonymous 25/39 -
5-43543165-C-G PAIP1 c.675G>C p.L225= Synonymous 4/11 -
11-70265954-C-T CTTN c.671C>T p.S224F Missense 9/18 -
8-10677767-G-A PINX1 c.407C>T p.S136L Missense 6/7 -
5-1074702-G-A SLC12A7 c.2052C>T p.P684= Synonymous 16/24 -
4-94411868-C-A GRID2 c.1937C>A p.S646* Nonsense 12/16 -
4-94411868-C-G GRID2 c.1937C>G p.S646* Nonsense 12/16 -
7-48287856-C-G ABCA13 c.1680C>G p.V560= Synonymous 14/62 -
7-48287856-C-A ABCA13 c.1680C>A p.V560= Synonymous 14/62 -
2-170151134-C-T LRP2 c.514G>A p.D172N Missense 5/79 -
5-43543165-C-T PAIP1 c.675G>A p.L225= Synonymous 4/11 -
1-46089071-C-T CCDC17 c.311G>A p.W104* Nonsense 3/13 -
8-87660065-C-T CNGB3 c.954G>A p.G318= Synonymous 8/18 -
3-148896356-G-C CP c.2724C>G p.F908L Missense 16/19 -
7-131866888-G-A PLXNA4 c.3220C>T p.R1074C Missense 17/32 -
8-87660065-C-G CNGB3 c.954G>C p.G318= Synonymous 8/18 -
8-87660065-C-A CNGB3 c.954G>T p.G318= Synonymous 8/18 -
6-10803956-T-C MAK c.660A>G p.K220= Synonymous 7/15 -
17-60028191-G-A MED13 c.6286C>T p.L2096F Missense 28/30 -
6-31541184-C-T LTA c.332C>T p.S111F Missense 4/4 -
5-139060872-C-T CXXC5 c.764C>T p.S255F Missense 2/3 -
10-43600545-C-G RET c.771C>G p.P257= Synonymous 4/20 -
7-48287856-C-T ABCA13 c.1680C>T p.V560= Synonymous 14/62 -
10-43600545-C-A RET c.771C>A p.P257= Synonymous 4/20 -
17-75202443-C-A SEC14L1 c.1302C>A p.I434= Synonymous 12/17 -
4-101108964-C-T DDIT4L c.452G>A p.R151K Missense 3/3 -
19-21240008-T-A ZNF430 c.894T>A p.F298L Missense 5/5 -
22-43572355-G-T TTLL12 c.888C>A p.P296= Synonymous 6/14 -
19-52249443-G-C FPR1 c.805C>G p.R269G Missense 2/2 -
6-142397026-A-G NMBR c.932T>C p.V311A Missense 4/4 -
16-89347480-G-A ANKRD11 c.5470C>T p.P1824S Missense 9/13 -
14-35736016-C-G PRORP c.1359C>G p.S453= Synonymous 6/8 -
17-75202443-C-T SEC14L1 c.1302C>T p.I434= Synonymous 12/17 -
2-187521052-C-T ITGAV c.1643C>T p.S548F Missense 17/30 -
9-112017931-G-A EPB41L4B c.1029C>T p.F343= Synonymous 11/26 -
21-30339162-C-G LTN1 c.1789G>C p.E551Q Missense 10/30 -
17-43332704-G-A SPATA32 c.845C>T p.T282I Missense 4/5 -
7-55210000-AG-TC EGFR c.110_111delAGinsTC p.K37I Missense 2/28 -
1-24927490-C-T NCMAP c.142C>T p.L48= Synonymous 3/4 -
19-55146147-GCTC-G LILRB1 c.1438_1440delCTC p.L480del InFrameDeletion 10/15 -
21-47656802-C-A MCM3AP c.5725G>T p.V1909L Missense 27/28 -
17-10360932-T-C MYH4 c.1702A>G p.K568E Missense 16/40 -
8-51449292-C-T SNTG1 c.604C>T p.R202* Nonsense 11/19 -
14-48143778-G-A MDGA2 c.15C>T p.Y5= Synonymous 1/17 -
1-86307782-G-A COL24A1 c.3539C>T p.P1180L Missense 41/60 -
7-128482368-C-A FLNC c.2205C>A p.P735= Synonymous 14/48 -
12-103700002-G-A C12orf42 c.381C>T p.F127= Synonymous 5/6 -
19-12244530-G-T ZNF20 c.471C>A p.S157= Synonymous 4/4 -
2-71351582-G-A MCEE c.132C>T p.N44= Synonymous 2/3 -
7-128482368-C-G FLNC c.2205C>G p.P735= Synonymous 14/48 -
5-13865900-A-T DNAH5 c.4232T>A p.L1411H Missense 27/79 -
7-82582045-C-T PCLO c.8224G>A p.D2742N Missense 5/25 -
17-19705195-A-G ULK2 c.1336T>C p.F446L Missense 16/27 -
12-659068-C-T B4GALNT3 c.987C>T p.T329= Synonymous 10/20 -
19-12244530-G-A ZNF20 c.471C>T p.S157= Synonymous 4/4 -
19-12244530-G-C ZNF20 c.471C>G p.S157= Synonymous 4/4 -
1-220219690-G-A EPRS1 c.41C>T p.P14L Missense 1/32 -
4-82125843-C-A PRKG2 c.359G>T p.G120V Missense 2/19 -
17-51901361-G-A KIF2B c.967G>A p.D323N Missense 1/1 -
7-56122084-C-T CCT6A c.224C>T p.S75F Missense 3/14 -
X-5821648-C-T NLGN4X c.1071G>A p.M357I Missense 5/6 -
11-64880874-G-C TM7SF2 c.487G>C p.G163R Missense 4/10 -
19-5131350-C-T KDM4B c.1579C>T p.P527S Missense 12/23 -
3-50380369-G-A ZMYND10 c.680C>T p.P227L Missense 7/12 -
1-159557757-G-A APCS c.46G>A p.E16K Missense 1/2 -
12-48145246-G-C RAPGEF3 c.438C>G p.V146= Synonymous 5/28 -
6-16250520-C-A GMPR c.213C>A p.S71= Synonymous 3/9 -
16-15130040-C-A PDXDC1 c.2275C>A p.Q759K Missense 23/23 -
2-182374525-G-A ITGA4 c.1836G>A p.M612I Missense 16/28 -
19-10444605-C-A ICAM3 c.1572G>T p.E524D Missense 7/7 -
4-111464018-C-A ENPEP c.1919C>A p.A640D Missense 12/20 -
12-48145246-G-T RAPGEF3 c.438C>A p.V146= Synonymous 5/28 -
7-94293126-C-T PEG10 c.258C>T p.F86= Synonymous 2/2 -
12-659068-C-A B4GALNT3 c.987C>A p.T329= Synonymous 10/20 -
12-659068-C-G B4GALNT3 c.987C>G p.T329= Synonymous 10/20 -
17-11583240-G-A DNAH9 c.3520G>A p.E1174K Missense 18/69 -
19-23159261-A-T ZNF728 c.878T>A p.F293Y Missense 4/4 -
14-63851287-C-A PPP2R5E c.1077G>T p.V359= Synonymous 12/14 -
9-95846886-C-T SUSD3 c.625C>T p.P209S Missense 5/5 -
17-7850994-G-A CNTROB c.2099G>A p.G700E Missense 14/19 -
5-140515185-G-A PCDHB5 c.169G>A p.G57R Missense 1/1 -
19-3983153-G-A EEF2 c.355C>T p.L119F Missense 3/15 -
2-64778657-G-C AFTPH c.49G>C p.D17H Missense 2/10 -
15-64017564-C-T HERC1 c.3495G>A p.E1165= Synonymous 18/78 -
22-50537923-CC-TT MOV10L1 c.334_335delCCinsTT p.P112F Missense 3/27 -
1-146767122-C-T CHD1L c.2626C>T p.P876S Missense 23/23 -
1-237947831-G-A RYR2 c.12819G>A p.K4273= Synonymous 90/105 -
10-96609722-G-A CYP2C19 c.1198G>A p.E400K Missense 8/9 -
3-187416507-C-T RTP2 c.457G>A p.E153K Missense 2/2 -
5-39153562-G-A FYB1 c.1280C>T p.P427L Missense 3/19 -
18-40851687-G-T SYT4 c.960C>A p.S320= Synonymous 3/4 -
16-624404-C-A PIGQ c.330C>A p.T110= Synonymous 2/11 -
20-35288748-A-G NDRG3 c.850T>C p.L284= Synonymous 13/16 -
16-624404-C-T PIGQ c.330C>T p.T110= Synonymous 2/11 -
8-95837172-C-T INTS8 c.182C>T p.P61L Missense 2/27 -
11-534289-C-G HRAS c.34G>C p.G12R Missense 2/6 -
16-2256598-C-T MLST8 c.282C>T p.H94= Synonymous 4/9 -
11-534289-C-A HRAS c.34G>T p.G12C Missense 2/6 -
17-38572297-T-G TOP2A c.292A>C p.R98= Synonymous 4/35 -
5-140573199-G-T PCDHB10 c.1074G>T p.E358D Missense 1/1 -
19-14584639-G-A PTGER1 c.494C>T p.A165V Missense 2/3 -
14-23862137-C-T MYH6 c.3235G>A p.E1079K Missense 24/39 -
7-126173315-G-A GRM8 c.2121C>T p.L707= Synonymous 9/11 -
7-126173315-G-C GRM8 c.2121C>G p.L707= Synonymous 9/11 -
20-62200815-G-T HELZ2 c.774C>A p.G258= Synonymous 5/20 -
7-126173315-G-T GRM8 c.2121C>A p.L707= Synonymous 9/11 -
11-60621104-A-T PTGDR2 c.92T>A p.I31N Missense 2/2 -
17-4510683-C-A SMTNL2 c.1287C>A p.I429= Synonymous 8/8 -
20-57570780-G-A CTSZ c.836C>T p.T279I Missense 6/6 -
19-41009960-C-G SPTBN4 c.1586C>G p.T529R Missense 12/36 -
12-95604948-T-C FGD6 c.112A>G p.I38V Missense 2/21 -
16-624404-C-G PIGQ c.330C>G p.T110= Synonymous 2/11 -
2-40656622-G-A SLC8A1 c.799C>T p.R267* Nonsense 2/11 -
1-29609415-G-A PTPRU c.2096G>A p.R699K Missense 12/30 -
14-61924360-C-T PRKCH c.1241C>T p.P414L Missense 9/14 -
1-203452864-C-T PRELP c.552C>T p.S184= Synonymous 2/3 -
11-46776603-C-T CKAP5 c.4704G>A p.L1568= Synonymous 36/44 -
3-140401455-C-T TRIM42 c.493C>T p.L165= Synonymous 2/5 -
1-203452864-C-G PRELP c.552C>G p.S184= Synonymous 2/3 -
1-203452864-C-A PRELP c.552C>A p.S184= Synonymous 2/3 -
9-138650331-C-T KCNT1 c.831C>T p.T277= Synonymous 10/31 -
9-34490063-G-A DNAI1 c.442G>A p.E148K Missense 6/20 -
9-138650331-C-G KCNT1 c.831C>G p.T277= Synonymous 10/31 -
13-39587857-G-A PROSER1 c.1532C>T p.S511F Missense 11/13 -
19-11098393-C-T SMARCA4 c.911C>T p.P304L Missense 6/35 -
1-237843811-C-G RYR2 c.8951C>G p.S2984C Missense 62/105 -
17-4510683-C-T SMTNL2 c.1287C>T p.I429= Synonymous 8/8 -
9-100368454-C-T TSTD2 c.925G>A p.D309N Missense 7/10 -
11-56431699-G-A OR5AR1 c.538G>A p.E180K Missense 1/1 -
10-13370447-C-T SEPHS1 c.655G>A p.E219K Missense 7/9 -
8-57080767-C-T PLAG1 c.62G>A p.G21E Missense 4/5 -
17-58022819-C-T RPS6KB1 c.1280C>T p.S427F Missense 14/15 -
12-6729377-G-A LPAR5 c.1038C>T p.A346= Synonymous 2/2 -
12-6729377-G-C LPAR5 c.1038C>G p.A346= Synonymous 2/2 -
6-159457079-C-T TAGAP c.1976G>A p.G659E Missense 10/10 -
2-224462559-G-A SCG2 c.1442C>T p.A481V Missense 2/2 -
15-42058819-C-T MGA c.8539C>T p.L2847= Synonymous 24/24 -
4-122835971-G-A TRPC3 c.1305C>T p.F435= Synonymous 4/12 -
2-179428079-G-C TTN c.82780C>G p.P27594A Missense 326/363 -
1-205589098-G-A ELK4 c.1076C>T p.S359L Missense 3/5 -
11-122929943-C-T HSPA8 c.1147G>A p.D383N Missense 6/9 -
1-59148120-G-T MYSM1 c.596C>A p.S199* Nonsense 8/20 -
21-42807832-C-G MX1 c.174C>G p.S58= Synonymous 6/17 -
17-4836082-C-T GP1BA c.183C>T p.T61= Synonymous 2/2 -
11-66334766-G-A CTSF c.558C>T p.I186= Synonymous 4/13 -
1-90399689-C-A LRRC8D c.1062C>A p.C354* Nonsense 3/3 -
11-88911899-C-T TYR c.778C>T p.P260S Missense 1/5 -
7-143807134-C-A OR2A2 c.459C>A p.A153= Synonymous 1/1 -
15-49882086-G-A FAM227B c.224C>T p.P75L Missense 4/16 -
7-143807134-C-G OR2A2 c.459C>G p.A153= Synonymous 1/1 -
9-140078209-G-T ANAPC2 c.1083C>A p.L361= Synonymous 5/13 -
12-6729377-G-T LPAR5 c.1038C>A p.A346= Synonymous 2/2 -
9-140078209-G-C ANAPC2 c.1083C>G p.L361= Synonymous 5/13 -
9-140078209-G-A ANAPC2 c.1083C>T p.L361= Synonymous 5/13 -
20-32691371-T-G EIF2S2 c.194A>C p.D65A Missense 3/9 -
1-7797504-C-T CAMTA1 c.3532C>T p.P1178S Missense 15/23 -
6-160328021-G-C MAS1 c.34G>C p.E12Q Missense 3/3 -
11-64434741-G-A NRXN2 c.1779C>T p.F593= Synonymous 9/23 -
11-62591702-C-T STX5 c.844G>A p.E282K Missense 10/11 -
12-103352213-C-T ASCL1 c.191C>T p.P64L Missense 1/2 -
3-100951822-G-A IMPG2 c.3036C>T p.N1012= Synonymous 15/19 -
1-111957610-C-G OVGP1 c.1513G>C p.G505R Missense 11/11 -
5-150948307-G-T FAT2 c.186C>A p.L62= Synonymous 2/24 -
19-47258781-C-T FKRP c.74C>T p.S25L Missense 4/4 -
3-49163462-GG-AA LAMB2 c.2281_2282delCCinsTT p.P761F Missense 17/32 -
4-187524567-G-A FAT1 c.11113C>T p.Q3705* Nonsense 19/27 -
2-197662542-G-T GTF3C3 c.193C>A p.Q65K Missense 2/18 -
6-43593967-C-T GTPBP2 c.394G>A p.E132K Missense 3/12 -
5-63257250-G-A HTR1A c.297C>T p.L99= Synonymous 1/1 -
X-110491832-G-A CAPN6 c.1449C>T p.L483= Synonymous 10/13 -
7-148480895-G-A CUL1 c.1104G>A p.Q368= Synonymous 10/22 -
X-110491832-G-T CAPN6 c.1449C>A p.L483= Synonymous 10/13 -
11-4661788-C-G OR51D1 c.768C>G p.S256= Synonymous 2/2 -
17-67109405-G-A ABCA6 c.1999C>T p.L667F Missense 15/39 -
12-114352830-G-T RBM19 c.2502C>A p.I834= Synonymous 21/24 -
1-234564979-C-T TARBP1 c.2963G>A p.W988* Nonsense 17/30 -
12-114352830-G-A RBM19 c.2502C>T p.I834= Synonymous 21/24 -
17-63221181-C-T RGS9 c.1469C>T p.P490L Missense 18/19 -
12-120146056-C-A CIT c.5139G>T p.L1713= Synonymous 40/48 -
10-95891971-T-C PLCE1 c.1247T>C p.V416A Missense 3/33 -
9-21974724-CCGCCTCCAGCAGCGCCCG-C CDKN2A c.85_102del18 p.R29_A34del InFrameDeletion 1/3 -
11-17428454-C-T ABCC8 c.3143G>A p.R1048K Missense 25/39 -
X-125685385-T-C DCAF12L1 c.1207A>G p.R403G Missense 1/2 -
2-228004932-G-A COL4A4 c.137C>T p.P46L Missense 4/48 -
4-98633937-C-T STPG2 c.1233G>A p.R411= Synonymous 10/11 -
22-44079666-G-A EFCAB6 c.1212C>T p.H404= Synonymous 12/32 -
6-10881977-A-C GCM2 c.50T>G p.M17R Missense 1/5 -
4-83378183-T-C ENOPH1 c.638T>C p.V213A Missense 5/6 -
8-144788952-C-T CCDC166 c.1232G>A p.R411Q Missense 2/2 -
10-16526504-C-T PTER c.121C>T p.P41S Missense 2/5 -
7-139801824-G-A KDM7A c.1565C>T p.P522L Missense 12/20 -
10-28283985-C-T ODAD2 c.87G>A p.A29= Synonymous 2/20 -
8-131793017-C-G ADCY8 c.3375G>C p.G1125= Synonymous 18/18 -
13-101717803-C-G NALCN c.4557G>C p.M1519I Missense 40/44 -
18-42643264-C-T SETBP1 c.4392C>T p.F1464= Synonymous 6/6 -
11-74547056-C-T RNF169 c.1408C>T p.H470Y Missense 6/6 -
8-131793017-C-A ADCY8 c.3375G>T p.G1125= Synonymous 18/18 -
13-101717803-C-A NALCN c.4557G>T p.M1519I Missense 40/44 -
11-119227902-G-A USP2 c.1725C>T p.D575= Synonymous 12/13 -
13-101717803-C-T NALCN c.4557G>A p.M1519I Missense 40/44 -
8-131793017-C-T ADCY8 c.3375G>A p.G1125= Synonymous 18/18 -
11-46776603-C-A CKAP5 c.4704G>T p.L1568= Synonymous 36/44 -
10-113940282-C-G GPAM c.174G>C p.R58= Synonymous 4/22 -
5-127728981-C-G FBN2 c.1312G>C p.G438R Missense 10/65 -
17-28788279-C-T CPD c.3580C>T p.P1194S Missense 18/21 -
5-150924643-G-A FAT2 c.6045C>T p.V2015= Synonymous 10/24 -
5-150924643-G-C FAT2 c.6045C>G p.V2015= Synonymous 10/24 -
16-46956310-C-T GPT2 c.1194C>T p.S398= Synonymous 9/12 -
5-150924643-G-T FAT2 c.6045C>A p.V2015= Synonymous 10/24 -
5-127627276-G-A FBN2 c.6237C>T p.F2079= Synonymous 49/65 -
3-183217470-T-C KLHL6 c.1055A>G p.K352R Missense 4/7 -
10-28283985-C-G ODAD2 c.87G>C p.A29= Synonymous 2/20 -
10-28283985-C-A ODAD2 c.87G>T p.A29= Synonymous 2/20 -
19-46443472-T-A NOVA2 c.1128A>T p.G376= Synonymous 4/4 -
19-46443472-T-C NOVA2 c.1128A>G p.G376= Synonymous 4/4 -
19-46443472-T-G NOVA2 c.1128A>C p.G376= Synonymous 4/4 -
20-50408758-C-T SALL4 c.264G>A p.L88= Synonymous 2/4 -
19-42213776-G-A CEACAM5 c.242G>A p.G81E Missense 2/10 -
7-26237023-G-A HNRNPA2B1 c.176C>T p.S59F Missense 3/11 -
5-80769541-C-T SSBP2 c.548G>A p.G183E Missense 8/17 -
9-94488958-G-A ROR2 c.1251C>T p.V417= Synonymous 8/9 -
6-29141514-C-A OR2J2 c.102C>A p.I34= Synonymous 2/2 -
9-94488958-G-C ROR2 c.1251C>G p.V417= Synonymous 8/9 -
11-65838288-C-A PACS1 c.331C>A p.R111= Synonymous 1/24 -
11-20805262-G-A NELL1 c.221G>A p.S74N Missense 3/20 -
6-29141514-C-T OR2J2 c.102C>T p.I34= Synonymous 2/2 -
19-50938501-C-T MYBPC2 c.103C>T p.P35S Missense 2/28 -
11-130748326-G-T SNX19 c.2970C>A p.V990= Synonymous 11/11 -
10-98205860-C-T TLL2 c.352G>A p.E118K Missense 3/21 -
7-94879416-G-A PPP1R9A c.2245G>A p.E749K Missense 10/20 -
X-71708787-C-A HDAC8 c.733G>T p.E245* Nonsense 7/11 -
10-97987267-G-A BLNK c.260C>T p.P87L Missense 5/17 -
5-7878355-C-T MTRR c.700C>T p.P234S Missense 5/15 -
12-51868202-G-C SLC4A8 c.1981G>C p.E661Q Missense 15/25 -
9-94488958-G-T ROR2 c.1251C>A p.V417= Synonymous 8/9 -
13-25457444-C-A CENPJ c.3888G>T p.K1296N Missense 17/17 -
12-49447000-C-T KMT2D c.944G>A p.W315* Nonsense 8/55 -
3-7620732-G-A GRM7 c.2139G>A p.Q713= Synonymous 8/10 -
11-134147711-C-T GLB1L3 c.267C>T p.I89= Synonymous 3/20 -
15-58001065-T-C POLR2M c.267T>C p.I89= Synonymous 2/4 -
15-58001065-T-A POLR2M c.267T>A p.I89= Synonymous 2/4 -
1-160264320-C-G COPA c.2630G>C p.G877A Missense 25/33 -
13-25457444-C-G CENPJ c.3888G>C p.K1296N Missense 17/17 -
5-150948307-G-C FAT2 c.186C>G p.L62= Synonymous 2/24 -
5-140720543-C-T PCDHGA2 c.2005C>T p.P669S Missense 1/4 -
10-100374727-C-G HPSE2 c.1254G>C p.V418= Synonymous 9/12 -
6-49494496-C-G GLYATL3 c.736C>G p.Q246E Missense 6/6 -
9-90503635-C-A SPATA31E1 c.4233C>A p.S1411= Synonymous 4/4 -
10-105037394-C-G INA c.426C>G p.L142= Synonymous 1/3 -
19-10479071-G-A TYK2 c.217C>T p.L73F Missense 4/25 -
19-55501871-T-C NLRP2 c.2539T>C p.L847= Synonymous 10/13 -
16-348165-G-A AXIN1 c.1341C>T p.F447= Synonymous 6/11 -
4-166964473-C-T TLL1 c.1426C>T p.P476S Missense 12/21 -
10-105037394-C-T INA c.426C>T p.L142= Synonymous 1/3 -
16-11868225-G-C ZC3H7A c.770C>G p.S257C Missense 9/23 -
11-72468875-G-A STARD10 c.514C>T p.L172F Missense 5/7 -
15-79585713-G-T ANKRD34C c.87G>T p.L29= Synonymous 2/2 -
1-91406070-G-A ZNF644 c.841C>T p.P281S Missense 3/6 -
6-39563888-C-T KIF6 c.788G>A p.G263E Missense 7/23 -
11-134147711-C-A GLB1L3 c.267C>A p.I89= Synonymous 3/20 -
8-133146605-G-C KCNQ3 c.1731C>G p.P577= Synonymous 13/15 -
4-102951376-C-A BANK1 c.1854C>A p.P618= Synonymous 10/17 -
2-107459732-G-A ST6GAL2 c.702C>T p.H234= Synonymous 2/6 -
12-104461761-C-T HCFC2 c.349C>T p.P117S Missense 3/15 -
12-29486569-C-T FAR2 c.1390C>T p.R464* Nonsense 12/12 -
15-89869967-G-A POLG c.1588C>T p.L530F Missense 9/23 -
22-22024240-G-A PPIL2 c.71G>A p.G24D Missense 2/20 -
1-36937879-G-A CSF3R c.957C>T p.S319= Synonymous 8/17 -
1-225609893-G-A LBR c.252C>T p.S84= Synonymous 3/14 -
1-248685026-C-A OR2G6 c.79C>A p.L27I Missense 2/2 -
6-97533073-G-A KLHL32 c.483G>A p.K161= Synonymous 6/11 -
2-179597355-G-A TTN c.16433C>T p.P5478L Missense 56/363 -
2-202245692-G-T TRAK2 c.2319C>A p.I773= Synonymous 16/16 -
1-225688731-A-C ENAH c.1580T>G p.V527G Missense 12/14 -
1-89654278-C-T GBP4 c.1397G>A p.R466K Missense 8/11 -
19-17322778-C-T MYO9B c.6133C>T p.R2045* Nonsense 40/40 -
2-189928732-C-T COL5A2 c.1744G>A p.G582S Missense 26/54 -
6-31691582-C-G MPIG6B c.228C>G p.P76= Synonymous 2/6 -
11-56086657-G-A OR8K3 c.875G>A p.R292Q Missense 1/1 -
3-169540318-C-T LRRIQ4 c.609C>T p.I203= Synonymous 1/5 -
10-44112150-G-A ZNF485 c.659G>A p.G220E Missense 5/5 -
1-237819252-G-T RYR2 c.8097G>T p.G2699= Synonymous 53/105 -
11-125513701-C-T CHEK1 c.829C>T p.R277* Nonsense 9/13 -
5-54401350-G-C GZMA c.119G>C p.R40T Missense 2/5 -
11-55762008-G-A OR5F1 c.94C>T p.L32F Missense 1/1 -
12-34176967-G-A ALG10 c.242G>A p.W81* Nonsense 2/3 -
19-746767-G-A PALM c.1117G>A p.D373N Missense 9/9 -
2-69177295-C-T GKN2 c.167G>A p.G56E Missense 3/6 -
3-98072886-G-A OR5K4 c.189G>A p.L63= Synonymous 1/1 -
3-98072886-G-C OR5K4 c.189G>C p.L63= Synonymous 1/1 -
19-50170360-C-T BCL2L12 c.444C>T p.P64= Synonymous 3/7 -
17-74309023-G-T PRPSAP1 c.927C>A p.I309= Synonymous 9/10 -
19-50170360-C-A BCL2L12 c.192C>A p.P64= Synonymous 3/7 -
17-74309023-G-A PRPSAP1 c.927C>T p.I309= Synonymous 9/10 -
19-50170360-C-G BCL2L12 c.192C>G p.P64= Synonymous 3/7 -
3-431051-G-A CHL1 c.2364G>A p.V788= Synonymous 20/28 -
4-156631890-A-C GUCY1A1 c.573A>C p.L191= Synonymous 6/10 -
4-156631890-A-G GUCY1A1 c.573A>G p.L191= Synonymous 6/10 -
4-55984914-T-A KDR c.215A>T p.Q72L Missense 3/30 -
19-35823567-G-A CD22 c.152G>A p.G51D Missense 3/14 -
19-37367870-C-T ZNF345 c.138C>T p.P46= Synonymous 3/3 -
8-77761782-G-A ZFHX4 c.3680G>A p.R1227K Missense 8/11 -
12-20801747-C-T PDE3A c.2691C>T p.F897= Synonymous 13/16 -
17-10419616-G-A MYH1 c.248C>T p.P83L Missense 4/40 -
3-48604616-C-T COL7A1 c.8054G>A p.R2685Q Missense 110/119 -
19-37367870-C-A ZNF345 c.138C>A p.P46= Synonymous 3/3 -
19-4310517-C-A FSD1 c.414C>A p.V138= Synonymous 6/13 -
1-114226475-G-C MAGI3 c.4285G>C p.G1429R Missense 21/21 -
17-61958267-C-G GH2 c.321G>C p.L107= Synonymous 4/5 -
1-100381976-T-C AGL c.4270T>C p.Y1424H Missense 32/34 -
11-6662545-G-T DCHS1 c.300C>A p.V100= Synonymous 2/21 -
17-61958267-C-A GH2 c.321G>T p.L107= Synonymous 4/5 -
6-152683415-C-T SYNE1 c.10189G>A p.G3397S Missense 64/146 -
X-100117267-C-T NOX1 c.697G>A p.E233K Missense 7/13 -
1-182369144-C-G TEDDM1 c.477G>C p.M159I Missense 1/1 -
1-182369144-C-T TEDDM1 c.477G>A p.M159I Missense 1/1 -
17-26652618-C-G TMEM97 c.216C>G p.C72W Missense 2/3 -
2-39050350-C-T DHX57 c.3076G>A p.E1026K Missense 17/24 -
17-26955490-G-C KIAA0100 c.4387C>G p.R1463G Missense 24/39 -
15-79585713-G-C ANKRD34C c.87G>C p.L29= Synonymous 2/2 -
18-71740886-C-T FBXO15 c.1343G>A p.R448K Missense 10/10 -
16-61851588-C-A CDH8 c.1072G>T p.A358S Missense 7/12 -
2-96798397-G-T ASTL c.519C>A p.L173= Synonymous 6/9 -
5-150948307-G-A FAT2 c.186C>T p.L62= Synonymous 2/24 -
4-10542173-T-A CLNK c.547A>T p.S183C Missense 11/19 -
2-96798397-G-A ASTL c.519C>T p.L173= Synonymous 6/9 -
6-28541599-C-G ZBED9 c.2067G>C p.A689= Synonymous 4/4 -
5-180582173-C-T OR2V2 c.231C>T p.T77= Synonymous 2/2 -
X-125954853-GG-AA PRR32 c.232_233delGGinsAA p.G78K Missense 2/2 -
19-50775831-G-A MYH14 c.3310G>A p.E1104K Missense 27/43 -
12-72667266-C-T TRHDE c.843C>T p.I281= Synonymous 1/19 -
5-180582173-C-A OR2V2 c.231C>A p.T77= Synonymous 2/2 -
5-180582173-C-G OR2V2 c.231C>G p.T77= Synonymous 2/2 -
10-105037394-C-A INA c.426C>A p.L142= Synonymous 1/3 -
1-10706279-G-A CASZ1 c.3602C>T p.S1201F Missense 17/21 -
12-72667266-C-A TRHDE c.708C>A p.I281= Synonymous 1/19 -
1-100680496-C-T DBT c.816G>A p.K272= Synonymous 7/11 -
9-90503635-C-G SPATA31E1 c.4233C>G p.S1411= Synonymous 4/4 -
2-61175236-C-G PUS10 c.1393G>C p.E465Q Missense 16/18 -
10-95791283-C-A PLCE1 c.480C>A p.S160= Synonymous 2/33 -
10-95791283-C-G PLCE1 c.480C>G p.S160= Synonymous 2/33 -
10-95791283-C-T PLCE1 c.480C>T p.S160= Synonymous 2/33 -
1-182369144-C-A TEDDM1 c.477G>T p.M159I Missense 1/1 -
1-158626371-G-A SPTA1 c.2881C>T p.Q961* Nonsense 20/52 -
9-90503635-C-T SPATA31E1 c.4233C>T p.S1411= Synonymous 4/4 -
2-48036361-T-TA FBXO11 c.2490dupT p.S831* Nonsense 21/23 -
11-1263974-C-T MUC5B c.5864C>T p.P1955L Missense 31/49 -
5-31317540-C-T CDH6 c.1571C>T p.S524L Missense 10/12 -
15-90784246-C-T GDPGP1 c.106C>T p.L36F Missense 4/4 -
2-98431701-G-A TMEM131 c.1253C>T p.S418F Missense 13/41 -
3-32030893-G-A ZNF860 c.322G>A p.D108N Missense 2/2 -
6-88854004-G-C CNR1 c.990C>G p.T330= Synonymous 2/2 -
6-88854004-G-A CNR1 c.990C>T p.T330= Synonymous 2/2 -
4-187629341-G-A FAT1 c.1641C>T p.Y547= Synonymous 2/27 -
11-130067778-G-C ST14 c.1397G>C p.R466P Missense 12/19 -
6-88854004-G-T CNR1 c.990C>A p.T330= Synonymous 2/2 -
3-157920932-G-A RSRC1 c.392G>A p.S131N Missense 4/10 -
2-178098864-G-T NFE2L2 c.181C>A p.Q61K Missense 2/5 -
14-23993928-C-T ZFHX2 c.5223G>A p.G1741= Synonymous 9/10 -
19-5714255-G-A LONP1 c.457C>T p.L153= Synonymous 2/18 -
14-23993928-C-A ZFHX2 c.5223G>T p.G1741= Synonymous 9/10 -
14-23993928-C-G ZFHX2 c.5223G>C p.G1741= Synonymous 9/10 -
19-53854419-T-C ZNF845 c.491T>C p.V164A Missense 4/4 -
19-16799077-C-A TMEM38A c.795C>A p.S265= Synonymous 6/6 -
11-126145742-T-C FOXRED1 c.787T>C p.L263= Synonymous 7/11 -
4-2306044-C-T ZFYVE28 c.2023G>A p.E675K Missense 8/13 -
6-74190511-G-C MTO1 c.1243G>C p.E415Q Missense 7/12 -
17-40946961-C-T WNK4 c.2522C>T p.S841F Missense 14/19 -
22-43089355-C-A A4GALT c.603G>T p.L201= Synonymous 3/3 -
13-42267097-G-A VWA8 c.3576C>T p.I1192= Synonymous 30/45 -
13-42267097-G-T VWA8 c.3576C>A p.I1192= Synonymous 30/45 -
13-107220179-C-G ARGLU1 c.89G>C p.R30P Missense 1/4 -
1-197009719-C-T F13B c.1885G>A p.G629R Missense 11/12 -
4-129028318-G-C LARP1B c.838G>C p.E280Q Missense 9/20 -
9-86421400-G-T GKAP1 c.33C>A p.T11= Synonymous 3/13 -
19-16799077-C-T TMEM38A c.795C>T p.S265= Synonymous 6/6 -
17-12639591-G-A MYOCD c.529G>A p.G177R Missense 6/14 -
1-190067802-C-A BRINP3 c.1647G>T p.M549I Missense 8/8 -
11-55418439-G-A OR4S2 c.60G>A p.E20= Synonymous 2/2 -
1-190067802-C-G BRINP3 c.1647G>C p.M549I Missense 8/8 -
17-12639591-G-C MYOCD c.529G>C p.G177R Missense 6/14 -
9-86421400-G-C GKAP1 c.33C>G p.T11= Synonymous 3/13 -
18-70205479-C-T CBLN2 c.607G>A p.E203K Missense 5/5 -
1-237880510-G-A RYR2 c.10336G>A p.D3446N Missense 72/105 -
14-101351000-C-G RTL1 c.126G>C p.R42= Synonymous 4/4 -
1-40777355-G-T COL9A2 c.450C>A p.P150= Synonymous 9/32 -
6-170064365-C-G WDR27 c.801G>C p.L267F Missense 8/26 -
11-40136545-C-T LRRC4C c.1298G>A p.G433E Missense 7/7 -
19-57325627-C-A PEG3 c.4183G>T p.A1395S Missense 10/10 -
14-101349841-C-T RTL1 c.1285G>A p.V429M Missense 4/4 -
8-25765996-C-G EBF2 c.627G>C p.R209= Synonymous 7/16 -
19-41383877-C-T CYP2A7 c.853G>A p.E285K Missense 6/9 -
1-109553801-G-T WDR47 c.867C>A p.S289R Missense 5/15 -
7-65705952-C-A TPST1 c.540C>A p.L180= Synonymous 2/6 -
8-25765996-C-A EBF2 c.627G>T p.R209= Synonymous 7/16 -
2-169850308-C-G ABCB11 c.696G>C p.L232= Synonymous 8/28 -
6-112476865-A-G LAMA4 c.1861T>C p.L621= Synonymous 15/39 -
15-64506157-G-C CSNK1G1 c.611C>G p.P204R Missense 6/12 -
2-169850308-C-T ABCB11 c.696G>A p.L232= Synonymous 8/28 -
7-157475573-G-T PTPRN2 c.1845C>A p.F615L Missense 13/23 -
1-197009719-C-G F13B c.1885G>C p.G629R Missense 11/12 -
14-24620500-C-T RNF31 c.1649C>T p.S550F Missense 9/21 -
9-33798614-C-A PRSS3 c.585C>A p.S195= Synonymous 4/5 -
7-157475573-G-C PTPRN2 c.1845C>G p.F615L Missense 13/23 -
3-119121077-C-T ARHGAP31 c.1478C>T p.S493F Missense 10/12 -
X-50378360-C-A SHROOM4 c.713G>T p.G238V Missense 4/9 -
12-83289935-G-C TMTC2 c.993G>C p.P331= Synonymous 3/12 -
3-142408536-C-T PLS1 c.1058C>T p.P353L Missense 10/16 -
19-33706715-C-T SLC7A10 c.316G>A p.D106N Missense 2/11 -
6-102124545-C-T GRIK2 c.589C>T p.L197F Missense 5/17 -
11-22242690-G-A ANO5 c.228G>A p.G76= Synonymous 5/22 -
19-38935265-C-G RYR1 c.579C>G p.S193= Synonymous 7/106 -
2-207170142-C-T ZDBF2 c.890C>T p.S297F Missense 5/5 -
8-25765996-C-T EBF2 c.627G>A p.R209= Synonymous 7/16 -
19-2918188-G-T ZNF57 c.1569G>T p.L523= Synonymous 4/4 -
19-2918188-G-A ZNF57 c.1569G>A p.L523= Synonymous 4/4 -
2-120709673-C-T PTPN4 c.1781C>T p.S594F Missense 19/27 -
22-26709785-G-A SEZ6L c.1932G>A p.W644* Nonsense 9/17 -
6-10749493-C-T TMEM14B c.15C>T p.L5= Synonymous 2/6 -
19-16000273-G-A CYP4F2 c.878C>T p.S293F Missense 7/13 -
4-71201402-G-A CABS1 c.646G>A p.E216K Missense 1/2 -
4-652798-G-A PDE6B c.1459G>A p.E487K Missense 11/22 -
4-140625176-C-T MGST2 c.318C>T p.T106= Synonymous 5/5 -
4-140625176-C-A MGST2 c.318C>A p.T106= Synonymous 5/5 -
4-140625176-C-G MGST2 c.318C>G p.T106= Synonymous 5/5 -
6-49423856-T-C MMUT c.848A>G p.D283G Missense 4/13 -
12-113307767-G-A RPH3A c.719G>A p.R240Q Missense 10/22 -
10-29762878-G-T SVIL c.5418C>A p.A1806= Synonymous 30/38 -
1-17740086-C-T RCC2 c.1154G>A p.G385E Missense 9/13 -
10-29762878-G-C SVIL c.5418C>G p.A1806= Synonymous 30/38 -
8-57354333-C-T PENK c.302G>A p.G101E Missense 4/4 -
6-28539768-G-A ZBED9 c.3898C>T p.P1300S Missense 4/4 -
10-29762878-G-A SVIL c.5418C>T p.A1806= Synonymous 30/38 -
13-39450385-G-A FREM2 c.8410G>A p.V2804I Missense 20/24 -
17-10415208-G-T MYH1 c.1364C>A p.P455H Missense 14/40 -
14-51060569-T-C ATL1 c.528T>C p.Y176= Synonymous 5/14 -
10-119798778-G-A RAB11FIP2 c.970C>T p.P324S Missense 3/5 -
7-127235490-C-T FSCN3 c.274C>T p.H92Y Missense 2/7 -
6-151161436-T-C PLEKHG1 c.3562T>C p.L1188= Synonymous 17/17 -
19-55445922-C-A NLRP7 c.2406G>T p.L802= Synonymous 7/11 -
19-55445922-C-T NLRP7 c.2406G>A p.L802= Synonymous 7/11 -
19-55445922-C-G NLRP7 c.2406G>C p.L802= Synonymous 7/11 -
5-130840340-C-G RAPGEF6 c.1233G>C p.R411S Missense 11/28 -
5-130840340-C-A RAPGEF6 c.1233G>T p.R411S Missense 11/28 -
11-5969021-G-A OR56A3 c.445G>A p.A149T Missense 3/3 -
1-94487503-C-G ABCA4 c.4672G>C p.G1558R Missense 33/50 -
17-43198647-G-T PLCD3 c.256C>A p.R86= Synonymous 2/16 -
2-69093640-G-A BMP10 c.398C>T p.S133F Missense 2/2 -
16-30510720-G-A ITGAL c.2055G>A p.R685= Synonymous 17/31 -
1-228353814-C-T IBA57 c.297C>T p.F99= Synonymous 1/3 -
19-49644758-G-A PPFIA3 c.2450G>A p.R817K Missense 19/30 -
22-26860500-C-T HPS4 c.1096G>A p.E366K Missense 11/14 -
11-5529719-C-T UBQLN3 c.1070G>A p.G357E Missense 2/2 -
12-6665023-G-T IFFO1 c.173C>A p.P58Q Missense 1/10 -
3-67053742-G-A KBTBD8 c.351G>A p.E117= Synonymous 3/4 -
19-38946101-C-A RYR1 c.1587C>A p.I529= Synonymous 15/106 -
1-152059679-C-T TCHHL1 c.479G>A p.W160* Nonsense 3/3 -
8-37687453-G-T ADGRA2 c.639G>T p.S213= Synonymous 6/19 -
19-2918188-G-C ZNF57 c.1569G>C p.L523= Synonymous 4/4 -
8-37687453-G-A ADGRA2 c.639G>A p.S213= Synonymous 6/19 -
8-37687453-G-C ADGRA2 c.639G>C p.S213= Synonymous 6/19 -
14-20822258-A-C PARP2 c.615A>C p.T205= Synonymous 8/16 -
2-71625902-G-A ZNF638 c.2500G>A p.A834T Missense 12/28 -
8-113275983-G-A CSMD3 c.9747C>T p.F3249= Synonymous 61/71 -
5-32088608-C-T PDZD2 c.5054C>T p.S1685L Missense 20/25 -
18-43418883-G-A SIGLEC15 c.697G>A p.G233S Missense 4/6 -
5-180045918-C-A FLT4 c.2853G>T p.E951D Missense 21/30 -
10-101089496-G-T CNNM1 c.352G>T p.V118L Missense 1/11 -
10-98766305-C-T SLIT1 c.3514G>A p.D1172N Missense 32/37 -
3-167039923-C-T ZBBX c.965G>A p.W322* Nonsense 12/22 -
X-5811560-C-G NLGN4X c.1749G>C p.R583= Synonymous 6/6 -
X-5811560-C-A NLGN4X c.1749G>T p.R583= Synonymous 6/6 -
X-5811560-C-T NLGN4X c.1749G>A p.R583= Synonymous 6/6 -
1-196977679-G-A CFHR5 c.1576G>A p.D526N Missense 10/10 -
5-177677083-G-T COL23A1 c.1038C>A p.A346= Synonymous 18/29 -
20-43252902-C-T ADA c.547G>A p.A183T Missense 6/12 -
5-177677083-G-A COL23A1 c.1038C>T p.A346= Synonymous 18/29 -
7-21904200-G-C DNAH11 c.11421G>C p.L3807= Synonymous 70/82 -
7-21904200-G-A DNAH11 c.11421G>A p.L3807= Synonymous 70/82 -
19-57646415-C-G ZIM3 c.1290G>C p.R430= Synonymous 5/5 -
19-35758528-AGAG-A LSR c.1812_1814delGAG p.R557del InFrameDeletion 9/10 -
19-52869276-C-G ZNF610 c.645C>G p.V215= Synonymous 6/6 -
11-4825367-G-A OR52R1 c.244C>T p.P82S Missense 1/1 -
1-94487503-C-T ABCA4 c.4672G>A p.G1558R Missense 33/50 -
19-52869276-C-A ZNF610 c.645C>A p.V215= Synonymous 6/6 -
4-187584693-G-A FAT1 c.3340C>T p.Q1114* Nonsense 3/27 -
7-116960638-CC-TT WNT2 c.292_293delGGinsAA p.G98N Missense 2/5 -
19-52869276-C-T ZNF610 c.645C>T p.V215= Synonymous 6/6 -
18-724556-G-A YES1 c.1500C>T p.S500= Synonymous 12/12 -
3-112299715-G-A SLC35A5 c.751G>A p.E251K Missense 6/7 -
2-61717792-G-A XPO1 c.2007C>T p.I669= Synonymous 17/25 -
9-139115620-G-A QSOX2 c.664C>T p.L222F Missense 5/12 -
9-135786446-G-A TSC1 c.1084C>T p.P362S Missense 11/23 -
2-131414637-G-A POTEJ c.2304G>A p.L768= Synonymous 15/15 -
2-131414637-G-C POTEJ c.2304G>C p.L768= Synonymous 15/15 -
12-81101805-A-C MYF6 c.307A>C p.R103= Synonymous 1/3 -
17-76395458-C-T PGS1 c.541C>T p.P181S Missense 5/10 -
7-113519565-C-T PPP1R3A c.1582G>A p.E528K Missense 4/4 -
19-57646415-C-T ZIM3 c.1290G>A p.R430= Synonymous 5/5 -
19-57646415-C-A ZIM3 c.1290G>T p.R430= Synonymous 5/5 -
3-52457135-C-A PHF7 c.948C>A p.I316= Synonymous 11/11 -
11-102593353-T-G MMP8 c.154A>C p.R52= Synonymous 2/10 -
22-39483033-G-A APOBEC3G c.1042G>A p.D348N Missense 7/8 -
15-42985358-C-T STARD9 c.11582C>T p.P3861L Missense 23/33 -
11-123894429-T-A OR10G9 c.710T>A p.F237Y Missense 1/1 -
11-117864824-G-T IL10RA c.648G>T p.G216= Synonymous 5/7 -
11-117864824-G-A IL10RA c.648G>A p.G216= Synonymous 5/7 -
16-49412396-T-C C16orf78 c.286T>C p.F96L Missense 3/5 -
X-49645414-C-T USP27X c.504C>T p.F168= Synonymous 1/1 -
17-40344402-C-T GHDC c.746G>A p.R249Q Missense 5/10 -
12-52448780-G-A NR4A1 c.668G>A p.S223N Missense 2/7 -
19-32845084-G-A ZNF507 c.1348G>A p.D450N Missense 3/7 -
8-110980819-G-A KCNV1 c.1001C>T p.S334F Missense 4/4 -
9-139409805-C-CA NOTCH1 c.1950_1951insT p.D651* Nonsense 12/34 -
20-6064731-C-G FERMT1 c.1674G>C p.A558= Synonymous 13/15 -
2-179429526-C-T TTN c.81333G>A p.Q27111= Synonymous 326/363 -
10-103281418-C-T BTRC c.347C>T p.S116F Missense 5/15 -
20-34021821-G-A GDF5 c.1392C>T p.T464= Synonymous 2/2 -
11-64569572-C-T MAP4K2 c.332G>A p.R111Q Missense 5/32 -
8-94715851-G-A CIBAR1 c.265G>A p.E89K Missense 3/9 -
10-126370710-G-A FAM53B c.372C>T p.S124= Synonymous 4/5 -
10-126370710-G-C FAM53B c.372C>G p.S124= Synonymous 4/5 -
8-77767685-A-T ZFHX4 c.8528A>T p.K2843I Missense 10/11 -
1-27023895-C-G ARID1A c.1001C>G p.S334W Missense 1/20 -
1-248458129-C-T OR2T12 c.752G>A p.G251E Missense 3/3 -
1-86047900-G-A CCN1 c.567G>A p.E189= Synonymous 3/5 -
5-140515185-G-C PCDHB5 c.169G>C p.G57R Missense 1/1 -
4-74863791-C-T CXCL5 c.264G>A p.K88= Synonymous 3/4 -
19-57647230-G-A ZIM3 c.475C>T p.P159S Missense 5/5 -
17-38636985-C-T TNS4 c.1708G>A p.D570N Missense 9/13 -
8-125989878-C-A ZNF572 c.1368C>A p.I456= Synonymous 3/3 -
22-41974882-C-T PMM1 c.478G>A p.E160K Missense 6/8 -
5-13717520-G-T DNAH5 c.12609C>A p.A4203= Synonymous 73/79 -
6-44900435-G-A SUPT3H c.867C>T p.A289= Synonymous 10/11 -
14-39648450-G-A PNN c.654G>A p.L218= Synonymous 7/9 -
19-10668706-GG-AA KRI1 c.1318_1319delCCinsTT p.P434F Missense 14/19 -
1-169679629-C-T SELL c.72G>A p.Q11= Synonymous 2/9 -
7-138968103-C-T UBN2 c.2452C>T p.P818S Missense 15/18 -
2-196673545-G-A DNAH7 c.9944C>T p.P3315L Missense 53/65 -
3-14861063-G-C FGD5 c.485G>C p.R162T Missense 1/20 -
12-128900133-G-T TMEM132C c.942G>T p.S314= Synonymous 2/9 -
19-16799077-C-G TMEM38A c.795C>G p.S265= Synonymous 6/6 -
6-117252531-C-G RFX6 c.2649C>G p.S883= Synonymous 19/19 -
6-117252531-C-T RFX6 c.2649C>T p.S883= Synonymous 19/19 -
5-73178386-C-T ARHGEF28 c.2904C>T p.L968= Synonymous 23/36 -
2-219292961-C-G VIL1 c.468C>G p.S156= Synonymous 6/20 -
2-219292961-C-A VIL1 c.468C>A p.S156= Synonymous 6/20 -
5-89943536-C-T ADGRV1 c.3244C>T p.P1082S Missense 17/90 -
6-123039007-G-A PKIB c.68G>A p.R23K Missense 4/5 -
9-107547777-G-T ABCA1 c.6545C>A p.S2182Y Missense 49/50 -
17-30687727-C-T ZNF207 c.418C>T p.P140S Missense 4/12 -
16-72055168-G-A DHODH c.663G>A p.R221= Synonymous 5/9 -
16-72055168-G-C DHODH c.663G>C p.R221= Synonymous 5/9 -
X-99551410-G-T PCDH19 c.3312C>A p.G1104= Synonymous 6/6 -
19-17514603-G-A BST2 c.444C>T p.I148= Synonymous 4/5 -
13-25433174-A-C RNF17 c.3646A>C p.S1216R Missense 26/36 -
3-98072886-G-T OR5K4 c.189G>T p.L63= Synonymous 1/1 -
5-170345816-C-T RANBP17 c.1054C>T p.P352S Missense 10/28 -
2-166010973-C-T SCN3A c.1369G>A p.E457K Missense 11/28 -
16-1128981-C-T SSTR5 c.113C>T p.A38V Missense 2/2 -
4-156631890-A-T GUCY1A1 c.573A>T p.L191= Synonymous 6/10 -
3-107492279-G-A BBX c.1711G>A p.G571S Missense 11/18 -
2-86839375-G-A RNF103 c.389C>T p.P130L Missense 3/4 -
8-52384787-C-T PXDNL c.772G>A p.E258K Missense 8/23 -
16-57789278-G-A KATNB1 c.1438G>A p.A480T Missense 16/20 -
7-18801869-C-T HDAC9 c.2133C>T p.D711= Synonymous 14/25 -
4-55152053-G-C PDGFRA c.2485G>C p.G829R Missense 18/23 -
4-55152053-G-A PDGFRA c.2485G>A p.G829R Missense 18/23 -
19-9204727-G-C OR1M1 c.807G>C p.V269= Synonymous 2/2 -
20-40162009-G-T CHD6 c.234C>A p.S78= Synonymous 3/37 -
19-9204727-G-T OR1M1 c.807G>T p.V269= Synonymous 2/2 -
3-140785534-C-T SPSB4 c.588C>T p.Y196= Synonymous 2/3 -
1-248129256-C-T OR2AK2 c.623C>T p.S208F Missense 1/1 -
1-155583290-C-T MSTO1 c.1321C>T p.H441Y Missense 12/14 -
3-89480474-C-T EPHA3 c.2311C>T p.L771= Synonymous 13/17 -
17-61890684-G-C DDX42 c.1772G>C p.R591T Missense 15/18 -
8-22104766-G-C POLR3D c.198G>C p.K66N Missense 3/9 -
14-33015819-C-T AKAP6 c.1960C>T p.L654= Synonymous 4/14 -
5-80369108-A-C RASGRF2 c.724A>C p.R242= Synonymous 5/27 -
21-40782021-C-T LCA5L c.1166G>A p.G389D Missense 10/11 -
17-79911045-G-A NOTUM c.1283C>T p.P428L Missense 11/11 -
19-6731068-G-A GPR108 c.1489C>T p.Q497* Nonsense 17/18 -
10-129854474-C-T PTPRE c.508C>T p.P170S Missense 7/21 -
8-113697815-G-A CSMD3 c.2302C>T p.L768= Synonymous 15/71 -
7-103202337-C-T RELN c.5274G>A p.A1758= Synonymous 35/65 -
8-110417349-G-C PKHD1L1 c.1659G>C p.M553I Missense 16/78 -
1-157740302-G-A FCRL2 c.207C>T p.I69= Synonymous 3/12 -
1-157740302-G-T FCRL2 c.207C>A p.I69= Synonymous 3/12 -
2-70890596-G-A ADD2 c.2142C>T p.F714= Synonymous 16/16 -
17-38152523-C-T PSMD3 c.1408C>T p.R470* Nonsense 10/12 -
19-48879414-G-A SYNGR4 c.544G>A p.E182K Missense 5/5 -
2-211513244-G-A CPS1 c.3384G>A p.L1128= Synonymous 27/38 -
19-18119547-C-T ARRDC2 c.302C>T p.P101L Missense 2/8 -
18-9583127-A-C PPP4R1 c.906T>G p.D302E Missense 9/20 -
13-24798711-G-A SPATA13 c.1644G>A p.E548= Synonymous 2/13 -
12-40258617-G-A SLC2A13 c.1266C>T p.I422= Synonymous 6/10 -
16-56974036-C-T HERPUD1 c.784C>T p.R262* Nonsense 6/8 -
12-40258617-G-T SLC2A13 c.1266C>A p.I422= Synonymous 6/10 -
9-104170557-C-G ZNF189 c.507C>G p.V169= Synonymous 3/3 -
9-104170557-C-A ZNF189 c.507C>A p.V169= Synonymous 3/3 -
9-104170557-C-T ZNF189 c.507C>T p.V169= Synonymous 3/3 -
1-237780760-G-A RYR2 c.5890G>A p.E1964K Missense 38/105 -
22-51015313-C-T CPT1B c.432G>A p.K144= Synonymous 4/20 -
17-27939530-C-T ANKRD13B c.1369C>T p.P457S Missense 12/15 -
16-27483179-C-G GTF3C1 c.4416G>C p.Q1472H Missense 30/37 -
18-47563263-G-A MYO5B c.412C>T p.H138Y Missense 4/40 -
1-235827896-G-T LYST c.11064C>A p.L3688= Synonymous 51/53 -
1-235827896-G-C LYST c.11064C>G p.L3688= Synonymous 51/53 -
3-113753804-C-T CCDC191 c.786G>A p.E262= Synonymous 6/17 -
19-37441222-C-T ZNF568 c.1167C>T p.P389= Synonymous 7/7 -
1-207850809-G-A CR1L c.173G>A p.G58E Missense 2/12 -
20-36572546-C-T VSTM2L c.506C>T p.S169F Missense 4/4 -
7-21659588-C-T DNAH11 c.4392C>T p.I1464= Synonymous 25/82 -
1-179815508-G-A TOR1AIP2 c.1111C>T p.P371S Missense 7/7 -
1-15893693-C-A DNAJC16 c.1878C>A p.V626= Synonymous 14/15 -
7-92826574-C-T HEPACAM2 c.1181G>A p.R394K Missense 7/10 -
3-148459092-G-A AGTR1 c.270G>A p.M90I Missense 3/3 -
7-141536922-C-T PRSS37 c.557G>A p.R186Q Missense 4/5 -
5-41382221-C-G PLCXD3 c.519G>C p.A173= Synonymous 2/3 -
12-81101807-G-A MYF6 c.309G>A p.R103= Synonymous 1/3 -
6-83728818-G-A UBE3D c.884C>T p.S295F Missense 8/10 -
19-9084029-G-A MUC16 c.7786C>T p.L2596F Missense 1/84 -
6-93965562-G-A EPHA7 c.2366C>T p.A789V Missense 13/17 -
11-6662545-G-A DCHS1 c.300C>T p.V100= Synonymous 2/21 -
1-114226475-G-A MAGI3 c.4285G>A p.G1429R Missense 21/21 -
2-242122201-C-T PPP1R7 c.1046C>T p.S349F Missense 10/10 -
4-25334862-G-C ZCCHC4 c.387G>C p.Q129H Missense 4/13 -
19-10747177-C-T SLC44A2 c.1412C>T p.A471V Missense 15/22 -
10-85973864-C-T CDHR1 c.2067C>T p.A689= Synonymous 17/17 -
12-9227163-G-A A2M c.3749C>T p.S1250F Missense 29/36 -
17-51900451-G-A KIF2B c.57G>A p.L19= Synonymous 1/1 -
1-237919588-G-A RYR2 c.11146G>A p.E3716K Missense 81/105 -
17-18053778-G-T MYO15A c.7248G>T p.M2416I Missense 36/66 -
8-144620714-G-A ZC3H3 c.823C>T p.P275S Missense 2/12 -
X-78216736-A-T P2RY10 c.719A>T p.K240I Missense 4/4 -
17-7577113-CACAAACACG-C TP53 c.817_825delCGTGTTTGT p.R273_C275del InFrameDeletion 8/11 -
11-7022054-C-T ZNF214 c.860G>A p.S287N Missense 3/3 -
15-31334362-C-T TRPM1 c.1879G>A p.V627M Missense 17/28 -
5-140167219-G-T PCDHA1 c.1344G>T p.V448= Synonymous 1/4 -
1-8022888-G-A PARK7 c.43G>A p.E15K Missense 2/7 -
8-126021510-C-T SQLE c.1033C>T p.L345F Missense 6/11 -
7-129045677-A-G AHCYL2 c.1143A>G p.G381= Synonymous 9/17 -
2-201515753-C-T AOX1 c.2904C>T p.I968= Synonymous 26/35 -
5-149278956-C-T PDE6A c.1245G>A p.M415I Missense 9/22 -
2-201515753-C-A AOX1 c.2904C>A p.I968= Synonymous 26/35 -
5-149278956-C-G PDE6A c.1245G>C p.M415I Missense 9/22 -
15-43748299-G-A TP53BP1 c.2507C>T p.S836L Missense 12/28 -
1-17657611-G-A PADI4 c.240G>A p.M80I Missense 2/16 -
1-17657611-G-C PADI4 c.240G>C p.M80I Missense 2/16 -
1-17657611-G-T PADI4 c.240G>T p.M80I Missense 2/16 -
11-119029350-C-G ABCG4 c.1251C>G p.A417= Synonymous 11/15 -
X-26212397-C-T MAGEB6 c.434C>T p.P145L Missense 2/2 -
1-224301975-C-G FBXO28 c.144C>G p.L48= Synonymous 1/5 -
12-53166588-G-A KRT76 c.951C>T p.F317= Synonymous 4/9 -
5-128351740-G-C SLC27A6 c.1132G>C p.G378R Missense 5/10 -
19-11323991-A-C DOCK6 c.4352T>G p.L1451R Missense 35/48 -
6-90499966-G-A MDN1 c.1010C>T p.S337F Missense 6/102 -
9-32491370-G-C DDX58 c.620C>G p.S207C Missense 5/18 -
18-31326131-G-A ASXL3 c.6319G>A p.E2107K Missense 12/12 -
3-140401457-G-A TRIM42 c.495G>A p.L165= Synonymous 2/5 -
19-47870412-G-C DHX34 c.1768G>C p.G590R Missense 7/17 -
19-47870412-G-A DHX34 c.1768G>A p.G590R Missense 7/17 -
1-149859299-G-T H2AC21 c.168C>A p.L56= Synonymous 1/1 -
5-140788853-C-T PCDHGB6 c.1084C>T p.P362S Missense 1/4 -
1-149859299-G-A H2AC21 c.168C>T p.L56= Synonymous 1/1 -
13-58209074-C-T PCDH17 c.2394C>T p.F798= Synonymous 1/4 -
1-149859299-G-C H2AC21 c.168C>G p.L56= Synonymous 1/1 -
8-86193479-C-G CA13 c.690C>G p.L230= Synonymous 7/7 -
3-137484110-G-A SOX14 c.484G>A p.G162S Missense 1/1 -
8-86193479-C-T CA13 c.690C>T p.L230= Synonymous 7/7 -
6-36291112-G-A BNIP5 c.1429C>T p.L477= Synonymous 8/12 -
7-48312400-C-T ABCA13 c.3137C>T p.S1046F Missense 17/62 -
2-212587187-T-C ERBB4 c.814A>G p.T272A Missense 7/28 -
3-9757205-G-A CPNE9 c.817G>A p.G273R Missense 13/21 -
17-18668094-C-T FBXW10 c.1473C>T p.F491= Synonymous 8/14 -
6-149778014-C-T ZC3H12D c.468G>A p.L156= Synonymous 4/6 -
6-2685766-C-A MYLK4 c.386G>T p.G129V Missense 5/13 -
2-179440844-C-T TTN c.70015G>A p.E23339K Missense 326/363 -
6-149778014-C-A ZC3H12D c.468G>T p.L156= Synonymous 4/6 -
1-186081969-C-T HMCN1 c.11015C>T p.S3672F Missense 72/107 -
10-6151963-C-T RBM17 c.577C>T p.P193S Missense 7/12 -
3-130425842-G-A PIK3R4 c.2671C>T p.R891C Missense 11/20 -
4-42965083-G-A GRXCR1 c.559G>A p.E187K Missense 2/4 -
16-30510720-G-T ITGAL c.2055G>T p.R685= Synonymous 17/31 -
16-30510720-G-C ITGAL c.2055G>C p.R685= Synonymous 17/31 -
10-96731980-G-T CYP2C9 c.939G>T p.L313= Synonymous 6/9 -
11-55944519-G-T OR5J2 c.426G>T p.V142= Synonymous 1/1 -
2-64778678-G-A AFTPH c.70G>A p.D24N Missense 2/10 -
2-96798397-G-C ASTL c.519C>G p.L173= Synonymous 6/9 -
11-55944519-G-A OR5J2 c.426G>A p.V142= Synonymous 1/1 -
11-55944519-G-C OR5J2 c.426G>C p.V142= Synonymous 1/1 -
10-96731980-G-A CYP2C9 c.939G>A p.L313= Synonymous 6/9 -
10-96731980-G-C CYP2C9 c.939G>C p.L313= Synonymous 6/9 -
14-95056510-C-T SERPINA5 c.752C>T p.S251F Missense 4/6 -
17-43531090-G-A PLEKHM1 c.2128C>T p.L710= Synonymous 7/12 -
11-46776605-G-A CKAP5 c.4702C>T p.L1568= Synonymous 36/44 -
5-140625304-G-A PCDHB15 c.158G>A p.G53E Missense 1/1 -
2-86373293-C-T IMMT c.1561G>A p.E521K Missense 14/15 -
19-14752245-G-A ADGRE3 c.1234C>T p.R412* Nonsense 10/16 -
17-40695460-C-T NAGLU c.1436C>T p.A479V Missense 6/6 -
14-47120366-G-A RPL10L c.574C>T p.P192S Missense 1/1 -
6-7230296-C-T RREB1 c.1964C>T p.S655L Missense 10/13 -
11-55595187-A-C OR5L2 c.493A>C p.R165= Synonymous 1/1 -
7-146741041-G-A CNTNAP2 c.445G>A p.E149K Missense 4/24 -
12-42491258-C-T GXYLT1 c.1147G>A p.E383K Missense 7/8 -
1-84880444-C-A DNASE2B c.979C>A p.R327= Synonymous 6/6 -
20-30381723-C-T TPX2 c.1582C>T p.P528S Missense 14/18 -
11-775071-G-A GATD1 c.136C>T p.P46S Missense 2/8 -
2-220505197-C-T SLC4A3 c.3323C>T p.A1108V Missense 21/23 -
11-88961112-C-T TYR c.1158C>T p.F386= Synonymous 3/5 -
6-33142341-GG-AA COL11A2 c.2392_2393delCCinsTT p.P798F Missense 31/66 -
1-216166396-A-C USH2A c.6771T>G p.F2257L Missense 35/72 -
11-6007945-G-C OR52L1 c.216C>G p.S72= Synonymous 1/1 -
11-6007945-G-A OR52L1 c.216C>T p.S72= Synonymous 1/1 -
11-6007945-G-T OR52L1 c.216C>A p.S72= Synonymous 1/1 -
16-29825122-C-T PRRT2 c.747C>T p.S249= Synonymous 2/4 -
5-43280791-G-A NIM1K c.1271G>A p.R424K Missense 4/4 -
12-49982385-G-A FAM186B c.2386C>T p.H796Y Missense 6/7 -
6-160969572-C-T LPA c.5093G>A p.G1698E Missense 31/39 -
8-125989878-C-T ZNF572 c.1368C>T p.I456= Synonymous 3/3 -
8-38853738-G-C TM2D2 c.221C>G p.S74C Missense 1/4 -
7-123152268-C-T IQUB c.127G>A p.E43K Missense 2/13 -
19-18879558-C-G CRTC1 c.1275C>G p.P425= Synonymous 10/14 -
14-24798322-G-A ADCY4 c.1469C>T p.P490L Missense 10/25 -
6-44900435-G-C SUPT3H c.867C>G p.A289= Synonymous 10/11 -
5-13717520-G-A DNAH5 c.12609C>T p.A4203= Synonymous 73/79 -
6-44900435-G-T SUPT3H c.867C>A p.A289= Synonymous 10/11 -
1-156939814-C-T ARHGEF11 c.724G>A p.D242N Missense 9/41 -
14-34985560-C-T EAPP c.814G>A p.D272N Missense 6/6 -
1-248028040-T-C TRIM58 c.550T>C p.L184= Synonymous 3/6 -
14-39648450-G-T PNN c.654G>T p.L218= Synonymous 7/9 -
19-9579836-C-T ZNF560 c.557G>A p.G186E Missense 9/10 -
1-190234088-C-T BRINP3 c.525G>A p.E175= Synonymous 4/8 -
14-23902003-G-A MYH7 c.347C>T p.T116I Missense 5/40 -
20-50052281-C-T NFATC2 c.1867G>A p.E623K Missense 7/11 -
4-46060577-G-A GABRG1 c.688C>T p.P230S Missense 6/9 -
18-19031031-G-A GREB1L c.1768G>A p.E590K Missense 13/33 -
5-78944903-C-T TENT2 c.917C>T p.P306L Missense 10/15 -
16-72055168-G-T DHODH c.663G>T p.R221= Synonymous 5/9 -
19-17514603-G-T BST2 c.444C>A p.I148= Synonymous 4/5 -
X-99551410-G-C PCDH19 c.3312C>G p.G1104= Synonymous 6/6 -
12-54914558-C-T NCKAP1L c.1706C>T p.P569L Missense 17/31 -
19-47844954-C-T C5AR2 c.898C>T p.R300C Missense 2/2 -
11-66610990-G-A RCE1 c.64G>A p.E22K Missense 1/8 -
14-77708812-G-A TMEM63C c.1187G>A p.W396* Nonsense 14/24 -
2-74043520-C-T C2orf78 c.2170C>T p.L724= Synonymous 3/3 -
10-72358354-T-G PRF1 c.1123A>C p.R375= Synonymous 3/3 -
1-214170242-G-A PROX1 c.364G>A p.E122K Missense 2/5 -
16-30020582-C-T DOC2A c.358G>A p.D120N Missense 4/11 -
7-75933483-C-T HSPB1 c.611C>T p.A204V Missense 3/3 -
18-66504349-A-C CCDC102B c.349A>C p.R117= Synonymous 2/8 -
16-20043578-G-A GPR139 c.541C>T p.H181Y Missense 2/2 -
8-106815518-G-A ZFPM2 c.3208G>A p.E1070K Missense 8/8 -
7-107418630-T-G SLC26A3 c.1504A>C p.R502= Synonymous 13/21 -
20-25457600-G-A NINL c.2327C>T p.S776L Missense 17/24 -
12-6981746-C-T SPSB2 c.320G>A p.G107D Missense 2/3 -
15-40500919-C-G BUB1B c.2091C>G p.S697= Synonymous 16/23 -
15-40500919-C-A BUB1B c.2091C>A p.S697= Synonymous 16/23 -
1-109395175-T-G AKNAD1 c.112A>C p.K38Q Missense 2/16 -
7-103202337-C-A RELN c.5274G>T p.A1758= Synonymous 35/65 -
7-103202337-C-G RELN c.5274G>C p.A1758= Synonymous 35/65 -
8-61777654-G-A CHD7 c.8156G>A p.R2719K Missense 38/38 -
1-55337230-G-A DHCR24 c.669C>T p.F223= Synonymous 5/9 -
18-9583127-A-T PPP4R1 c.906T>A p.D302E Missense 9/20 -
9-79324867-G-A PRUNE2 c.2323C>T p.P775S Missense 8/19 -
17-18668088-A-C FBXW10 c.1467A>C p.R489= Synonymous 8/14 -
1-154163710-C-G TPM3 c.195G>C p.L65F Missense 2/10 -
11-77817890-G-A ALG8 c.1141C>T p.H381Y Missense 10/13 -
15-74488377-G-A STRA6 c.378C>T p.F126= Synonymous 5/19 -
14-91782026-T-G CCDC88C c.1633A>C p.M545L Missense 14/30 -
14-91782026-T-A CCDC88C c.1633A>T p.M545L Missense 14/30 -
22-27008040-C-G CRYBB1 c.295G>C p.G99R Missense 3/6 -
22-27008040-C-T CRYBB1 c.295G>A p.G99R Missense 3/6 -
8-116426555-G-A TRPS1 c.3581C>T p.S1194F Missense 7/7 -
22-21304081-C-T CRKL c.860C>T p.P287L Missense 3/3 -
17-7983236-C-T ALOX12B c.778G>A p.E260K Missense 7/15 -
5-124080562-A-G ZNF608 c.121T>C p.L41= Synonymous 2/10 -
3-183685499-G-A ABCC5 c.1817C>T p.S606L Missense 12/30 -
7-100226969-T-G TFR2 c.1297A>C p.R433= Synonymous 10/18 -
1-158636139-G-A SPTA1 c.2187C>T p.H729= Synonymous 16/52 -
19-37441222-C-A ZNF568 c.1167C>A p.P389= Synonymous 7/7 -
12-32490464-A-G BICD1 c.2284A>G p.M762V Missense 7/10 -
3-148459092-G-T AGTR1 c.270G>T p.M90I Missense 3/3 -
3-148459092-G-C AGTR1 c.270G>C p.M90I Missense 3/3 -
9-99099057-A-G SLC35D2 c.694T>C p.F232L Missense 9/12 -
10-85973864-C-G CDHR1 c.2067C>G p.A689= Synonymous 17/17 -
20-39792596-C-T PLCG1 c.1046C>T p.S349F Missense 11/32 -
11-6651817-C-T DCHS1 c.4208G>A p.R1403H Missense 10/21 -
6-35923089-C-T SLC26A8 c.2072G>A p.R691K Missense 17/20 -
19-41007909-C-T SPTBN4 c.866C>T p.A289V Missense 8/36 -
1-99772187-C-T PLPPR4 c.1913C>T p.S590F Missense 7/7 -
19-58868159-C-T ZNF497 c.843G>A p.K281= Synonymous 3/3 -
19-51844478-C-T VSIG10L c.824G>A p.G275E Missense 2/10 -
11-6953798-A-G ZNF215 c.295A>G p.I99V Missense 3/7 -
3-183823747-C-T HTR3E c.915C>T p.T305= Synonymous 7/9 -
7-100677734-C-T MUC17 c.3037C>T p.P1013S Missense 3/13 -
14-47504458-T-G MDGA2 c.1368A>C p.R456S Missense 8/17 -
17-18053778-G-C MYO15A c.7248G>C p.M2416I Missense 36/66 -
7-72732698-G-A TRIM50 c.737C>T p.S246F Missense 5/7 -
5-170345729-C-T RANBP17 c.967C>T p.P323S Missense 10/28 -
5-140167219-G-C PCDHA1 c.1344G>C p.V448= Synonymous 1/4 -
5-140167219-G-A PCDHA1 c.1344G>A p.V448= Synonymous 1/4 -
7-106820391-T-G HBP1 c.53T>G p.L18R Missense 2/11 -
3-180377316-T-G CCDC39 c.662A>C p.Q221P Missense 6/20 -
7-129045677-A-C AHCYL2 c.1143A>C p.G381= Synonymous 9/17 -
19-12876746-C-T HOOK2 c.1594G>A p.E532K Missense 16/23 -
7-150921920-G-A ABCF2 c.309C>T p.D103= Synonymous 3/15 -
2-74043363-C-A C2orf78 c.2013C>A p.L671= Synonymous 3/3 -
12-15699620-C-G PTPRO c.2282C>G p.S761C Missense 13/27 -
17-19705193-G-T ULK2 c.1338C>A p.F446L Missense 16/27 -
8-59352223-C-T UBXN2B c.565C>T p.H189Y Missense 6/8 -
20-13269261-C-A ISM1 c.718C>A p.R240= Synonymous 4/6 -
2-239039980-G-A ESPNL c.2625G>A p.R875= Synonymous 9/9 -
4-113359766-C-T ALPK1 c.3315C>T p.P1105= Synonymous 13/16 -
12-69743936-A-G LYZ c.185A>G p.N62S Missense 2/4 -
8-27295011-G-A PTK2B c.1525G>A p.E509K Missense 17/31 -
17-10297616-C-T MYH8 c.5116G>A p.E1706K Missense 35/40 -
6-162683767-G-A PRKN c.202C>T p.H68Y Missense 3/12 -
12-20799718-G-A PDE3A c.2399G>A p.G800E Missense 12/16 -
1-6605150-C-G NOL9 c.835G>C p.E279Q Missense 4/12 -
1-27106407-GCTGCTGCTCATCCTGGGCAAGCTGATC-G ARID1A c.6026_6052del27 p.L2009_L2017del InFrameDeletion 20/20 -
12-56143436-G-A GDF11 c.994G>A p.A332T Missense 3/3 -
1-75038238-C-T ERICH3 c.3156G>A p.K1052= Synonymous 14/15 -
19-2096977-G-C IZUMO4 c.33G>C p.T11= Synonymous 1/10 -
14-23871985-G-A MYH6 c.923C>T p.P308L Missense 11/39 -
5-140203329-C-T PCDHA5 c.1969C>T p.P657S Missense 1/4 -
14-20502282-G-T OR4K13 c.636C>A p.L212= Synonymous 2/2 -
2-152424887-G-C NEB c.17679C>G p.T5893= Synonymous 112/182 -
1-154163710-C-A TPM3 c.195G>T p.L65F Missense 2/10 -
3-47718153-G-A SMARCC1 c.1691C>T p.S564F Missense 17/28 -
14-20502282-G-C OR4K13 c.636C>G p.L212= Synonymous 2/2 -
14-20502282-G-A OR4K13 c.636C>T p.L212= Synonymous 2/2 -
6-28227314-G-A NKAPL c.165G>A p.W55* Nonsense 1/1 -
10-17147570-G-T CUBN c.1116C>A p.S372= Synonymous 11/67 -
9-103015330-C-A INVS c.1376C>A p.P459H Missense 10/17 -
5-178419001-G-C GRM6 c.588C>G p.P196= Synonymous 3/11 -
3-140419753-G-A TRIM42 c.2109G>A p.G703= Synonymous 5/5 -
19-2096977-G-T IZUMO4 c.33G>T p.T11= Synonymous 1/10 -
11-63067087-C-A SLC22A10 c.1056C>A p.I352= Synonymous 6/10 -
1-248028042-G-A TRIM58 c.552G>A p.L184= Synonymous 3/6 -
19-7705846-C-T STXBP2 c.386C>T p.T129M Missense 6/19 -
8-104312401-C-T FZD6 c.66C>T p.F22= Synonymous 2/7 -
18-2891408-G-A EMILIN2 c.1283G>A p.G428E Missense 4/8 -
5-64906866-G-A TRIM23 c.650C>T p.S217L Missense 5/11 -
15-74284464-G-A STOML1 c.101C>T p.S34F Missense 1/7 -
18-33795638-C-T MOCOS c.1495C>T p.P499S Missense 8/15 -
13-38160380-C-T POSTN c.791G>A p.G264E Missense 7/23 -
16-31471165-C-T ARMC5 c.320C>T p.S107L Missense 1/6 -
13-70514234-G-A KLHL1 c.952C>T p.R318* Nonsense 4/11 -
2-98866842-G-A VWA3B c.2735G>A p.G912E Missense 20/28 -
11-56114265-C-T OR8K1 c.751C>T p.L251= Synonymous 1/1 -
2-190738275-C-T PMS1 c.2527C>T p.P843S Missense 12/13 -
1-24927492-G-T NCMAP c.144G>T p.L48= Synonymous 3/4 -
X-54957223-G-A TRO c.4066G>A p.G1356S Missense 12/13 -
1-24927492-G-C NCMAP c.144G>C p.L48= Synonymous 3/4 -
19-13264343-C-T IER2 c.343C>T p.P115S Missense 2/2 -
15-65394653-C-T UBAP1L c.490G>A p.E164K Missense 3/6 -
19-2933820-G-A ZNF77 c.1305C>T p.P435= Synonymous 4/4 -
8-72935344-C-T TRPA1 c.3157G>A p.D1053N Missense 27/27 -
19-2933820-G-T ZNF77 c.1305C>A p.P435= Synonymous 4/4 -
19-6477405-G-A DENND1C c.431C>T p.S144L Missense 7/23 -
4-129121743-C-T LARP1B c.2232C>T p.F744= Synonymous 17/20 -
7-158896520-A-T VIPR2 c.285T>A p.S95R Missense 4/13 -
19-51322528-G-C KLK1 c.711C>G p.T237= Synonymous 5/5 -
1-205897121-G-A SLC26A9 c.1010C>T p.A337V Missense 9/21 -
14-24770009-G-C NOP9 c.643G>C p.G215R Missense 2/10 -
11-64517851-C-T PYGM c.2174G>A p.R725K Missense 17/20 -
2-136567425-G-A LCT c.2492C>T p.P831L Missense 8/17 -
3-184293748-G-A EPHB3 c.987G>A p.S329= Synonymous 4/16 -
2-239025622-G-A ESPNL c.934G>A p.E312K Missense 5/9 -
15-49061229-G-A CEP152 c.1832C>T p.S611F Missense 14/27 -
12-8628798-G-A CLEC6A c.447G>A p.W149* Nonsense 5/6 -
1-182026103-G-A ZNF648 c.1043C>T p.S348L Missense 2/2 -
10-13330486-C-T PHYH c.552G>A p.R184= Synonymous 6/9 -
6-136597207-C-T BCLAF1 c.1456G>A p.E486K Missense 5/13 -
17-41141475-C-T RUNDC1 c.775C>T p.P259S Missense 3/5 -
8-36793338-C-T KCNU1 c.3350C>T p.S1117L Missense 27/27 -
1-237532870-G-A RYR2 c.346G>A p.G116R Missense 6/105 -
1-237532870-G-C RYR2 c.346G>C p.G116R Missense 6/105 -
12-95927640-G-A USP44 c.393C>T p.F131= Synonymous 2/6 -
7-48318697-G-A ABCA13 c.7906G>A p.E2636K Missense 18/62 -
17-1703679-G-A SMYD4 c.1009C>T p.L337= Synonymous 5/11 -
1-41298700-G-A KCNQ4 c.1528G>A p.E510K Missense 11/14 -
19-2456908-G-C LMNB2 c.24C>G p.R8= Synonymous 1/12 -
X-68058581-G-C EFNB1 c.250G>C p.E84Q Missense 2/5 -
9-79325984-G-A PRUNE2 c.1206C>T p.F402= Synonymous 8/19 -
10-3207438-C-T PITRM1 c.622G>A p.G208R Missense 6/27 -
10-3207438-C-G PITRM1 c.622G>C p.G208R Missense 6/27 -
6-84798904-G-A MRAP2 c.322G>A p.G108S Missense 4/4 -
6-146865085-C-T RAB32 c.78C>T p.F26= Synonymous 1/3 -
17-7578411-TCACAACCTCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCGGACGCGGGTGC-T TP53 c.451_519del69 p.G154Efs*7 InFrameDeletion 5/11 -
22-45809381-G-A SMC1B c.68C>T p.P23L Missense 1/25 -
3-62522216-G-C CADPS c.2007C>G p.I669M Missense 12/30 -
19-19042922-A-C HOMER3 c.553T>G p.W185G Missense 7/10 -
2-54886349-C-T SPTBN1 c.6302C>T p.P2101L Missense 31/36 -
6-87966994-C-T ZNF292 c.3647C>T p.T1216I Missense 8/8 -
1-211545714-G-C TRAF5 c.1344G>C p.L448= Synonymous 11/11 -
1-211545714-G-A TRAF5 c.1344G>A p.L448= Synonymous 11/11 -
1-211545714-G-T TRAF5 c.1344G>T p.L448= Synonymous 11/11 -
6-147109706-G-C ADGB c.4497G>C p.G1499= Synonymous 33/36 -
12-8376743-C-T FAM90A1 c.192G>A p.W64* Nonsense 5/7 -
3-16261018-C-T GALNT15 c.1501C>T p.P501S Missense 7/10 -
5-159491958-G-A TTC1 c.765G>A p.G255= Synonymous 8/8 -
6-147109706-G-A ADGB c.4497G>A p.G1499= Synonymous 33/36 -
20-37546839-C-T PPP1R16B c.1234C>T p.P412S Missense 11/11 -
5-159491958-G-T TTC1 c.765G>T p.G255= Synonymous 8/8 -
6-147109706-G-T ADGB c.4497G>T p.G1499= Synonymous 33/36 -
14-92470914-G-A TRIP11 c.3406C>T p.L1136= Synonymous 11/21 -
10-96580326-G-A CYP2C19 c.893G>A p.G298E Missense 6/9 -
X-40568642-C-T MED14 c.1243G>A p.E415K Missense 10/31 -
13-38266187-G-A TRPC4 c.1183C>T p.Q395* Nonsense 4/11 -
1-186113667-C-A HMCN1 c.14098C>A p.H4700N Missense 91/107 -
14-88945439-G-A PTPN21 c.2336C>T p.T779M Missense 13/19 -
11-103124061-G-A DYNC2H1 c.10090G>A p.E3364K Missense 66/89 -
10-102048758-G-A PKD2L1 c.2306C>T p.P769L Missense 15/16 -
4-5894695-A-G CRMP1 c.2T>C p.M1? Missense 1/14 -
17-7838408-C-T CNTROB c.539C>T p.P180L Missense 4/19 -
22-21989283-C-T CCDC116 c.931C>T p.P311S Missense 4/5 -
19-38590707-C-T SIPA1L3 c.1771C>T p.P591S Missense 5/22 -
3-143691218-C-T DIPK2A c.44C>T p.S15L Missense 1/3 -
18-60035934-G-A TNFRSF11A c.784G>A p.E262K Missense 9/10 -
6-160977144-G-A LPA c.4886C>T p.S1629F Missense 30/39 -
12-991174-C-T WNK1 c.3307C>T p.R1103* Nonsense 14/28 -
5-126993340-A-C CTXN3 c.127A>C p.I43L Missense 3/3 -
12-116446299-GG-AA MED13L c.1918_1919delCCinsTT p.P640F Missense 10/31 -
17-7348641-C-T CHRNB1 c.111C>T p.G37= Synonymous 2/11 -
9-101151283-G-A GABBR2 c.1382C>T p.S461F Missense 10/19 -
19-44892142-C-T ZNF285 c.265G>A p.D89N Missense 4/4 -
5-140255890-C-T PCDHA12 c.833C>T p.S278F Missense 1/4 -
15-90764695-C-T SEMA4B c.692C>T p.S231F Missense 6/14 -
11-6662545-G-C DCHS1 c.300C>G p.V100= Synonymous 2/21 -
19-22154119-G-A ZNF208 c.3717C>T p.I1239= Synonymous 4/4 -
16-2816035-C-G SRRM2 c.5506C>G p.R1836G Missense 11/15 -
13-49772008-C-T FNDC3A c.2488C>T p.Q830* Nonsense 21/26 -
6-39053805-G-A GLP1R c.1348G>A p.G450S Missense 13/13 -
17-1630069-C-T WDR81 c.1816C>T p.P606S Missense 1/10 -
2-48873774-G-A STON1-GTF2A1L c.2683G>A p.E895K Missense 8/11 -
4-48583586-G-C FRYL c.2023C>G p.L675V Missense 21/64 -
11-103194641-C-T DYNC2H1 c.11962C>T p.P3988S Missense 82/89 -
2-48600484-C-G FOXN2 c.757C>G p.Q253E Missense 6/7 -
1-182442859-G-A RGSL1 c.613G>A p.E205K Missense 6/22 -
10-96534946-C-T CYP2C19 c.300C>T p.F100= Synonymous 2/9 -
9-79827906-C-T VPS13A c.577C>T p.P193S Missense 8/72 -
1-158368419-C-T OR10T2 c.838G>A p.V280M Missense 1/1 -
6-42906355-G-C CNPY3 c.663G>C p.L221= Synonymous 6/6 -
6-42906355-G-T CNPY3 c.663G>T p.L221= Synonymous 6/6 -
6-42906355-G-A CNPY3 c.663G>A p.L221= Synonymous 6/6 -
10-127426935-C-T EDRF1 c.1902C>T p.I634= Synonymous 15/25 -
11-5510266-C-T OR52D1 c.330C>T p.I110= Synonymous 1/1 -
1-216166396-A-T USH2A c.6771T>A p.F2257L Missense 35/72 -
1-145414817-C-T HJV c.36C>T p.S12= Synonymous 2/4 -
7-2983877-G-A CARD11 c.653C>T p.A218V Missense 5/25 -
2-167318940-G-A SCN7A c.1042C>T p.R348W Missense 10/26 -
11-66358748-T-A CCDC87 c.1739A>T p.N580I Missense 1/1 -
14-97322921-C-T VRK1 c.887C>T p.P296L Missense 10/13 -
1-145414817-C-A HJV c.36C>A p.S12= Synonymous 2/4 -
9-72724680-C-T MAMDC2 c.465C>T p.I155= Synonymous 4/14 -
17-7187651-C-T SLC2A4 c.680C>T p.P227L Missense 6/11 -
10-61835950-G-A ANK3 c.4689C>T p.S1563= Synonymous 37/44 -
10-61835950-G-C ANK3 c.4689C>G p.S1563= Synonymous 37/44 -
17-18668086-C-A FBXW10 c.1465C>A p.R489= Synonymous 8/14 -
16-23080783-G-A USP31 c.2643C>T p.S881= Synonymous 16/16 -
8-113243822-C-T CSMD3 c.10780G>A p.G3594R Missense 69/71 -
6-31691582-C-T MPIG6B c.228C>T p.P76= Synonymous 2/6 -
6-31691582-C-A MPIG6B c.228C>A p.P76= Synonymous 2/6 -
12-939190-C-T WNK1 c.1175C>T p.P392L Missense 4/28 -
4-187521063-G-T FAT1 c.12092C>A p.S4031* Nonsense 22/27 -
9-135201882-G-A SETX c.5103C>T p.F1701= Synonymous 10/26 -
4-187521063-G-C FAT1 c.12092C>G p.S4031* Nonsense 22/27 -
18-40854337-C-G SYT4 c.57G>C p.G19= Synonymous 2/4 -
18-40854337-C-A SYT4 c.57G>T p.G19= Synonymous 2/4 -
1-202573725-A-T SYT2 c.203T>A p.I68N Missense 3/9 -
18-40854337-C-T SYT4 c.57G>A p.G19= Synonymous 2/4 -
6-90382348-G-T MDN1 c.13548C>A p.L4516= Synonymous 81/102 -
7-95442583-C-T DYNC1I1 c.248C>T p.S83L Missense 4/17 -
17-1638967-G-A WDR81 c.5281G>A p.D1761N Missense 8/10 -
16-55880411-T-C CES5A c.1680A>G p.L560= Synonymous 13/13 -
17-33521047-G-A SLC35G3 c.280C>T p.L94F Missense 1/1 -
4-42895295-G-A GRXCR1 c.12G>A p.R4= Synonymous 1/4 -
12-8083857-C-T SLC2A3 c.494G>A p.G165E Missense 4/10 -
3-88105002-A-G CGGBP1 c.125T>C p.F42S Missense 4/4 -
7-99315157-G-T CYP3A7 c.424C>A p.L142I Missense 5/13 -
12-128900133-G-C TMEM132C c.942G>C p.S314= Synonymous 2/9 -
12-128900133-G-A TMEM132C c.942G>A p.S314= Synonymous 2/9 -
13-107148163-G-A EFNB2 c.432C>T p.G144= Synonymous 3/5 -
13-107148163-G-C EFNB2 c.432C>G p.G144= Synonymous 3/5 -
13-107148163-G-T EFNB2 c.432C>A p.G144= Synonymous 3/5 -
7-143270160-C-T CTAGE15 c.1250C>T p.S417F Missense 1/1 -
6-152720899-G-C SYNE1 c.7089C>G p.L2363= Synonymous 48/146 -
11-5221451-C-T OR51V1 c.480G>A p.R160= Synonymous 1/1 -
1-235840422-G-A LYST c.11007C>T p.T3669= Synonymous 50/53 -
1-235840422-G-C LYST c.11007C>G p.T3669= Synonymous 50/53 -
16-89972639-C-T TCF25 c.1666C>T p.H556Y Missense 15/18 -
1-235840422-G-T LYST c.11007C>A p.T3669= Synonymous 50/53 -
12-6167121-C-A VWF c.1623G>T p.L541= Synonymous 14/52 -
12-6167121-C-G VWF c.1623G>C p.L541= Synonymous 14/52 -
12-6167121-C-T VWF c.1623G>A p.L541= Synonymous 14/52 -
17-29556855-T-A NF1 c.2853T>A p.V951= Synonymous 22/58 -
19-56459366-C-T NLRP8 c.98C>T p.P33L Missense 1/10 -
3-56468653-G-A ERC2 c.383C>T p.S128F Missense 2/18 -
4-156631846-C-T GUCY1A1 c.529C>T p.Q177* Nonsense 6/10 -
5-150704962-G-A SLC36A2 c.895C>T p.L299= Synonymous 8/10 -
16-57998072-G-T CNGB1 c.252C>A p.S84= Synonymous 4/33 -
14-73759538-G-T NUMB c.354C>A p.A118= Synonymous 8/13 -
14-73759538-G-A NUMB c.354C>T p.A118= Synonymous 8/13 -
14-73759538-G-C NUMB c.354C>G p.A118= Synonymous 8/13 -
1-17316661-G-A ATP13A2 c.2373C>T p.F791= Synonymous 21/29 -
11-5809605-A-G OR52N1 c.442T>C p.F148L Missense 2/2 -
9-130496590-G-A TOR2A c.405C>T p.I135= Synonymous 2/5 -
9-130496590-G-T TOR2A c.405C>A p.I135= Synonymous 2/5 -
10-124671177-G-A FAM24A c.27G>A p.T9= Synonymous 2/3 -
2-44079887-C-T ABCG8 c.844C>T p.L282= Synonymous 6/13 -
10-124671177-G-T FAM24A c.27G>T p.T9= Synonymous 2/3 -
9-99099055-G-C SLC35D2 c.696C>G p.F232L Missense 9/12 -
X-144905806-A-G SLITRK2 c.1863A>G p.L621= Synonymous 5/5 -
1-67519559-G-T SLC35D1 c.138C>A p.A46= Synonymous 1/12 -
1-94884113-C-T ABCD3 c.79C>T p.H27Y Missense 1/23 -
1-67519559-G-A SLC35D1 c.138C>T p.A46= Synonymous 1/12 -
11-4661788-C-A OR51D1 c.768C>A p.S256= Synonymous 2/2 -
11-4661788-C-T OR51D1 c.768C>T p.S256= Synonymous 2/2 -
12-57865749-C-T GLI1 c.3226C>T p.P1076S Missense 12/12 -
4-155665599-G-A LRAT c.121G>A p.E41K Missense 2/3 -
21-30693737-C-T BACH1 c.136C>T p.R46C Missense 2/5 -
20-50140598-G-A NFATC2 c.182C>T p.P61L Missense 2/11 -
3-140979020-G-C PXYLP1 c.3G>C p.M1? Missense 2/6 -
4-72222843-C-T SLC4A4 c.669C>T p.S223= Synonymous 6/26 -
4-90169215-C-T GPRIN3 c.2047G>A p.D683N Missense 2/2 -
4-72222843-C-G SLC4A4 c.669C>G p.S223= Synonymous 6/26 -
4-72222843-C-A SLC4A4 c.669C>A p.S223= Synonymous 6/26 -
3-64527016-G-A ADAMTS9 c.5367C>T p.F1789= Synonymous 35/40 -
19-47424794-C-T ARHGAP35 c.2862C>T p.Y954= Synonymous 2/7 -
12-114397126-C-A RBM19 c.462G>T p.L154= Synonymous 5/24 -
12-114397126-C-G RBM19 c.462G>C p.L154= Synonymous 5/24 -
12-114397126-C-T RBM19 c.462G>A p.L154= Synonymous 5/24 -
19-9090435-A-G MUC16 c.1380T>C p.G460= Synonymous 1/84 -
2-179201144-G-C OSBPL6 c.774G>C p.M258I Missense 9/25 -
19-15131314-G-A CCDC105 c.717G>A p.K239= Synonymous 3/7 -
13-102375291-G-A FGF14 c.634C>T p.H212Y Missense 5/5 -
16-2489773-C-G CCNF c.723C>G p.L241= Synonymous 8/17 -
16-2489773-C-A CCNF c.723C>A p.L241= Synonymous 8/17 -
4-96761737-G-A PDHA2 c.436G>A p.G146R Missense 1/1 -
7-82582367-A-T PCLO c.7902T>A p.S2634= Synonymous 5/25 -
7-47847897-C-T PKD1L1 c.7775G>A p.R2592K Missense 52/57 -
14-94776305-C-T SERPINA6 c.652G>A p.E218K Missense 3/5 -
5-140531032-C-T PCDHB6 c.1194C>T p.F398= Synonymous 1/1 -
6-29080276-G-T OR2J3 c.609G>T p.M203I Missense 4/4 -
4-48581078-G-A FRYL c.2440C>T p.L814F Missense 23/64 -
6-13365056-G-T GFOD1 c.1092C>A p.I364= Synonymous 2/2 -
6-29080276-G-A OR2J3 c.609G>A p.M203I Missense 4/4 -
6-29080276-G-C OR2J3 c.609G>C p.M203I Missense 4/4 -
4-11400937-G-T HS3ST1 c.693C>A p.V231= Synonymous 2/2 -
4-11400937-G-A HS3ST1 c.693C>T p.V231= Synonymous 2/2 -
4-11400937-G-C HS3ST1 c.693C>G p.V231= Synonymous 2/2 -
3-28365680-C-A AZI2 c.1032G>T p.L344= Synonymous 8/8 -
3-28365680-C-G AZI2 c.1032G>C p.L344= Synonymous 8/8 -
19-15295250-G-A NOTCH3 c.2422C>T p.Q808* Nonsense 16/33 -
16-2147220-G-T PKD1 c.10428C>A p.V3476= Synonymous 34/46 -
3-28365680-C-T AZI2 c.1032G>A p.L344= Synonymous 8/8 -
19-56104852-G-A FIZ1 c.455C>T p.S152F Missense 3/3 -
11-17393635-A-T NCR3LG1 c.941A>T p.K314M Missense 5/5 -
11-55681741-G-T OR5W2 c.318C>A p.I106= Synonymous 1/1 -
1-228033709-G-C PRSS38 c.781G>C p.G261R Missense 5/5 -
11-55681741-G-A OR5W2 c.318C>T p.I106= Synonymous 1/1 -
7-47854966-C-T PKD1L1 c.7055G>A p.G2352E Missense 47/57 -
22-37770870-G-T ELFN2 c.705C>A p.L235= Synonymous 3/3 -
2-54855358-C-T SPTBN1 c.1769C>T p.S590F Missense 13/36 -
1-9670659-C-A TMEM201 c.1561C>A p.L521M Missense 9/11 -
1-110050205-G-A AMIGO1 c.1330C>T p.L444= Synonymous 2/2 -
9-136083547-T-C OBP2B c.250A>G p.T84A Missense 3/7 -
15-59911556-C-T GCNT3 c.1119C>T p.I373= Synonymous 3/3 -
5-140559847-G-A PCDHB8 c.2232G>A p.G744= Synonymous 1/1 -
9-133760599-C-G ABL1 c.2922C>G p.T974= Synonymous 11/11 -
9-133760599-C-A ABL1 c.2922C>A p.T974= Synonymous 11/11 -
20-62842631-G-A MYT1 c.1364G>A p.G455E Missense 8/23 -
9-133760599-C-T ABL1 c.2922C>T p.T974= Synonymous 11/11 -
5-140559847-G-T PCDHB8 c.2232G>T p.G744= Synonymous 1/1 -
14-101351000-C-A RTL1 c.126G>T p.R42= Synonymous 4/4 -
1-227165211-C-A COQ8A c.717C>A p.S239= Synonymous 5/15 -
16-81891882-G-A PLCG2 c.352G>A p.D118N Missense 4/33 -
5-150072458-T-C RBM22 c.1131A>G p.P377= Synonymous 10/11 -
6-167728706-G-A UNC93A c.1140G>A p.K380= Synonymous 8/8 -
2-70315209-C-T PCBP1 c.334C>T p.L112= Synonymous 1/1 -
3-124909242-A-T SLC12A8 c.175T>A p.F59I Missense 3/14 -
20-3765795-C-T CENPB c.1336G>A p.E446K Missense 1/1 -
7-150939591-C-T SMARCD3 c.555G>A p.R185= Synonymous 5/13 -
6-27775472-G-C H2BC13 c.213C>G p.F71L Missense 1/1 -
11-57261617-G-C SLC43A1 c.720C>G p.A240= Synonymous 8/15 -
11-57261617-G-A SLC43A1 c.720C>T p.A240= Synonymous 8/15 -
4-141334224-G-A CLGN c.9C>T p.F3= Synonymous 2/15 -
17-7416431-C-G POLR2A c.4848C>G p.S1616= Synonymous 29/29 -
11-4510302-C-T OR52K1 c.172C>T p.H58Y Missense 2/2 -
12-85547850-G-T LRRIQ1 c.4698G>T p.S1566= Synonymous 23/27 -
2-10136464-G-A GRHL1 c.1612G>A p.E538K Missense 14/16 -
X-153132938-C-G L1CAM c.2010G>C p.G670= Synonymous 17/29 -
9-140083619-G-C SSNA1 c.154G>C p.E52Q Missense 2/3 -
6-393262-A-G IRF4 c.110A>G p.Y37C Missense 2/9 -
1-159558393-G-C APCS c.567G>C p.L189= Synonymous 2/2 -
20-54958132-G-A AURKA c.475C>T p.L159= Synonymous 5/9 -
8-55539165-C-T RP1 c.2723C>T p.A908V Missense 4/4 -
10-23257367-C-T ARMC3 c.865C>T p.P289S Missense 8/19 -
3-167512470-G-A SERPINI1 c.739G>A p.E247K Missense 5/9 -
3-38622565-C-T SCN5A c.3085G>A p.E1029K Missense 17/28 -
7-106685530-G-A PRKAR2B c.178G>A p.D60N Missense 1/11 -
12-464326-A-G KDM5A c.868T>C p.F290L Missense 7/28 -
17-7578389-GCTCATGGTGGGGGCAGCGCCTCACAAC-G TP53 c.514_540del27 p.V172_E180del InFrameDeletion 5/11 -
3-74315746-T-G CNTN3 c.2872A>C p.T958P Missense 21/22 -
6-66204722-C-T EYS c.582G>A p.W194* Nonsense 4/43 -
14-92537384-G-A ATXN3 c.886C>T p.Q296* Nonsense 10/11 -
2-220316399-C-A SPEG c.2310C>A p.L770= Synonymous 6/41 -
2-220316399-C-G SPEG c.2310C>G p.L770= Synonymous 6/41 -
1-31206743-C-T LAPTM5 c.721G>A p.E241K Missense 8/8 -
9-33294740-C-A NFX1 c.348C>A p.I116= Synonymous 2/24 -
12-89918180-G-A POC1B-GALNT4 c.138C>T p.L46= Synonymous 3/3 -
12-89918180-G-C POC1B-GALNT4 c.138C>G p.L46= Synonymous 3/3 -
15-102242559-C-G TARS3 c.1104G>C p.P368= Synonymous 9/19 -
3-124739711-C-T HEG1 c.1177G>A p.D393N Missense 4/17 -
12-89918180-G-T POC1B-GALNT4 c.138C>A p.L46= Synonymous 3/3 -
5-176053488-G-A SNCB c.193C>T p.H65Y Missense 4/6 -
3-133119179-C-T BFSP2 c.252C>T p.F84= Synonymous 1/7 -
15-51696536-G-A GLDN c.1241G>A p.R414Q Missense 10/10 -
22-25263117-C-G SGSM1 c.984C>G p.C328W Missense 10/25 -
22-43625117-G-A SCUBE1 c.1045C>T p.H349Y Missense 9/22 -
7-102760527-C-T NAPEPLD c.438G>A p.T146= Synonymous 3/5 -
7-102760527-C-A NAPEPLD c.438G>T p.T146= Synonymous 3/5 -
18-70526112-C-T NETO1 c.418G>A p.D140N Missense 4/11 -
17-26732240-C-T SLC46A1 c.475G>A p.G159S Missense 2/6 -
1-47904238-C-T FOXD2 c.431C>T p.P144L Missense 1/1 -
17-17699011-C-T RAI1 c.2749C>T p.P917S Missense 3/6 -
14-24004107-G-A ZFHX2 c.428C>T p.P143L Missense 2/10 -
2-241724411-C-T KIF1A c.715G>A p.E239K Missense 7/49 -
7-151949723-A-G KMT2C c.1377T>C p.C459= Synonymous 10/59 -
19-36293159-G-A PRODH2 c.1360C>T p.P378S Missense 9/10 -
19-5215400-G-A PTPRS c.4218C>T p.F1406= Synonymous 28/38 -
2-141625731-C-T LRP1B c.4271G>A p.G1424E Missense 26/91 -
6-71562292-C-A SMAP1 c.714C>A p.P238= Synonymous 8/11 -
6-71562292-C-T SMAP1 c.714C>T p.P238= Synonymous 8/11 -
6-107070773-G-A RTN4IP1 c.346C>T p.P116S Missense 2/9 -
6-71562292-C-G SMAP1 c.714C>G p.P238= Synonymous 8/11 -
5-149503839-T-C PDGFRB c.1997A>G p.N666S Missense 14/23 -
2-229890462-G-A PID1 c.540C>T p.H180= Synonymous 3/3 -
18-44773633-C-T SKOR2 c.1922G>A p.G641E Missense 2/9 -
2-179550264-C-T TTN c.32373G>A p.V10791= Synonymous 128/363 -
2-179550264-C-G TTN c.32373G>C p.V10791= Synonymous 128/363 -
14-73578242-C-T RBM25 c.2024C>T p.S675F Missense 16/19 -
8-55533636-G-A RP1 c.110G>A p.R37Q Missense 2/4 -
14-73989776-C-G HEATR4 c.81G>C p.M27I Missense 3/18 -
14-73989776-C-A HEATR4 c.81G>T p.M27I Missense 3/18 -
18-19019550-G-C GREB1L c.901G>C p.G301R Missense 8/33 -
18-19019550-G-A GREB1L c.901G>A p.G301R Missense 8/33 -
2-27804402-C-T C2orf16 c.4963C>T p.R1655C Missense 1/1 -
3-53220319-C-T PRKCD c.1223C>T p.P408L Missense 13/19 -
16-1259185-G-A CACNA1H c.3517G>A p.G1173S Missense 17/35 -
12-81769584-G-T PPFIA2 c.1122C>A p.I374= Synonymous 10/33 -
12-81769584-G-A PPFIA2 c.1122C>T p.I374= Synonymous 10/33 -
16-88901640-G-T GALNS c.879C>A p.L293= Synonymous 8/14 -
20-2384295-G-A TGM6 c.1162G>A p.G388S Missense 9/13 -
1-33361236-G-A TMEM54 c.379C>T p.L127= Synonymous 4/6 -
2-179528208-T-A TTN c.36568A>T p.K12190* Nonsense 172/363 -
2-179826197-C-G CCDC141 c.540G>C p.R180= Synonymous 5/24 -
11-62572815-C-T NXF1 c.14G>A p.G5E Missense 1/21 -
19-41096938-C-T SHKBP1 c.1949C>T p.P650L Missense 18/18 -
2-84896473-C-T DNAH6 c.6145C>T p.P2049S Missense 38/77 -
7-37956075-G-A SFRP4 c.65C>T p.A22V Missense 1/6 -
1-43396324-G-C SLC2A1 c.489C>G p.G163= Synonymous 4/10 -
3-9845617-G-C ARPC4 c.421G>C p.E141Q Missense 5/6 -
4-3520613-G-A LRPAP1 c.577C>T p.L193= Synonymous 4/8 -
3-183888465-C-G DVL3 c.2073C>G p.P691= Synonymous 15/15 -
11-40136274-C-T LRRC4C c.1569G>A p.M523I Missense 7/7 -
19-55501873-G-A NLRP2 c.2541G>A p.L847= Synonymous 10/13 -
8-125989254-C-T ZNF572 c.744C>T p.V248= Synonymous 3/3 -
3-119087223-G-C ARHGAP31 c.208G>C p.E70Q Missense 3/12 -
8-125989254-C-A ZNF572 c.744C>A p.V248= Synonymous 3/3 -
8-125989254-C-G ZNF572 c.744C>G p.V248= Synonymous 3/3 -
19-37676809-G-A ZNF585B c.1630C>T p.H544Y Missense 5/5 -
X-144905804-T-C SLITRK2 c.1861T>C p.L621= Synonymous 5/5 -
18-29121232-G-A DSG2 c.1956G>A p.E652= Synonymous 13/15 -
19-1785516-G-C ATP8B3 c.3345C>G p.S1115= Synonymous 26/29 -
19-1785516-G-A ATP8B3 c.3345C>T p.S1115= Synonymous 26/29 -
19-1785516-G-T ATP8B3 c.3345C>A p.S1115= Synonymous 26/29 -
2-95943270-C-T PROM2 c.931C>T p.L311= Synonymous 7/24 -
1-22155374-G-A HSPG2 c.12191C>T p.S4064F Missense 88/97 -
2-179826199-G-T CCDC141 c.538C>A p.R180= Synonymous 5/24 -
3-132432064-G-A NPHP3 c.1024C>T p.P342S Missense 6/27 -
7-15652215-T-G MEOX2 c.712A>C p.R238= Synonymous 3/3 -
19-9297128-C-T OR7D2 c.671C>T p.S224F Missense 3/3 -
9-111617895-C-T ACTL7B c.316G>A p.E106K Missense 1/1 -
19-9049479-C-T MUC16 c.32152G>A p.A10718T Missense 5/84 -
19-44039474-C-T ZNF575 c.373C>T p.P125S Missense 4/4 -
11-118011942-C-A SCN4B c.573G>T p.L191= Synonymous 4/5 -
1-190067802-C-T BRINP3 c.1647G>A p.M549I Missense 8/8 -
11-7021315-C-A ZNF214 c.1599G>T p.K533N Missense 3/3 -
9-21974741-C-T CDKN2A c.86G>A p.R29Q Missense 1/3 -
8-86089778-C-T E2F5 c.123C>T p.L41= Synonymous 1/8 -
1-76288144-G-A MSH4 c.1040G>A p.G347E Missense 7/20 -
8-86089778-C-A E2F5 c.123C>A p.L41= Synonymous 1/8 -
8-86089778-C-G E2F5 c.123C>G p.L41= Synonymous 1/8 -
6-51732873-A-C PKHD1 c.7521T>G p.F2507L Missense 48/67 -
14-94844804-C-T SERPINA1 c.1239G>A p.V413= Synonymous 5/5 -
6-52764774-G-C GSTA3 c.372C>G p.I124M Missense 5/7 -
14-94844804-C-A SERPINA1 c.1239G>T p.V413= Synonymous 5/5 -
14-39648448-C-T PNN c.652C>T p.L218= Synonymous 7/9 -
4-8469746-C-T TRMT44 c.1600C>T p.P534S Missense 9/11 -
11-64032961-C-A PLCB3 c.3022C>A p.R1008= Synonymous 25/31 -
11-94554952-C-T AMOTL1 c.1378C>T p.Q460* Nonsense 4/13 -
19-9297043-A-C OR7D2 c.586A>C p.S196R Missense 3/3 -
19-46330840-G-T SYMPK c.2109C>A p.I703= Synonymous 16/27 -
6-147109554-C-T ADGB c.4345C>T p.P1449S Missense 33/36 -
14-101351000-C-T RTL1 c.126G>A p.R42= Synonymous 4/4 -
X-118586067-C-T SLC25A43 c.786C>T p.V262= Synonymous 4/5 -
X-118586067-C-A SLC25A43 c.786C>A p.V262= Synonymous 4/5 -
X-118586067-C-G SLC25A43 c.786C>G p.V262= Synonymous 4/5 -
6-112397660-G-A TUBE1 c.501C>T p.F167= Synonymous 7/12 -
4-177248405-C-T SPCS3 c.387C>T p.F129= Synonymous 4/5 -
3-12851798-C-T CAND2 c.732C>T p.V244= Synonymous 5/15 -
3-193210914-A-G ATP13A4 c.417T>C p.V139= Synonymous 4/30 -
3-193210914-A-C ATP13A4 c.417T>G p.V139= Synonymous 4/30 -
1-227165211-C-G COQ8A c.717C>G p.S239= Synonymous 5/15 -
10-37508066-G-A ANKRD30A c.3258G>A p.K1142= Synonymous 34/36 -
5-13786449-C-T DNAH5 c.8659G>A p.E2887K Missense 52/79 -
11-534288-CC-GT HRAS c.34_35delGGinsAC p.G12T Missense 2/6 -
5-150072458-T-A RBM22 c.1131A>T p.P377= Synonymous 10/11 -
11-101832591-C-G CEP126 c.825C>G p.S275= Synonymous 6/11 -
11-101832591-C-A CEP126 c.825C>A p.S275= Synonymous 6/11 -
16-70534983-G-A COG4 c.1073C>T p.P358L Missense 9/19 -
7-150939591-C-A SMARCD3 c.555G>T p.R185= Synonymous 5/13 -
3-443374-G-A CHL1 c.3451G>A p.E1151K Missense 27/28 -
16-89628790-C-T RPL13 c.468C>T p.P156= Synonymous 5/6 -
16-89628790-C-G RPL13 c.468C>G p.P156= Synonymous 5/6 -
16-89628790-C-A RPL13 c.468C>A p.P156= Synonymous 5/6 -
16-88901640-G-A GALNS c.879C>T p.L293= Synonymous 8/14 -
19-4174831-C-T SIRT6 c.851G>A p.R284K Missense 8/8 -
11-57261617-G-T SLC43A1 c.720C>A p.A240= Synonymous 8/15 -
17-7416431-C-A POLR2A c.4848C>A p.S1616= Synonymous 29/29 -
1-154294449-G-A AQP10 c.146G>A p.G49E Missense 2/6 -
17-7416431-C-T POLR2A c.4848C>T p.S1616= Synonymous 29/29 -
6-52103545-G-T IL17F c.237C>A p.T79= Synonymous 2/3 -
16-15811092-C-A MYH11 c.5409G>T p.E1803D Missense 38/41 -
6-52103545-G-A IL17F c.237C>T p.T79= Synonymous 2/3 -
14-20389147-A-G OR4K5 c.382A>G p.K128E Missense 1/1 -
6-52103545-G-C IL17F c.237C>G p.T79= Synonymous 2/3 -
1-186413149-G-A PDC c.703C>T p.L235= Synonymous 4/4 -
3-52883863-G-A STIMATE c.372C>T p.A124= Synonymous 4/8 -
7-65705952-C-T TPST1 c.540C>T p.L180= Synonymous 2/6 -
1-159558393-G-T APCS c.567G>T p.L189= Synonymous 2/2 -
1-159558393-G-A APCS c.567G>A p.L189= Synonymous 2/2 -
11-65793763-G-A CATSPER1 c.88C>T p.P30S Missense 1/12 -
19-5212370-C-T PTPRS c.4747G>A p.G1583S Missense 31/38 -
16-29998152-C-T TAOK2 c.2559C>T p.S853= Synonymous 16/16 -
7-65705952-C-G TPST1 c.540C>G p.L180= Synonymous 2/6 -
16-29998152-C-G TAOK2 c.2559C>G p.S853= Synonymous 16/16 -
16-29998152-C-A TAOK2 c.2559C>A p.S853= Synonymous 16/16 -
8-10465367-C-T RP1L1 c.6241G>A p.E2081K Missense 4/4 -
16-11349084-C-A SOCS1 c.252G>T p.L84= Synonymous 2/2 -
1-152276542-G-A FLG c.10820C>T p.S3607F Missense 3/3 -
16-11349084-C-T SOCS1 c.252G>A p.L84= Synonymous 2/2 -
7-94054933-G-A COL1A2 c.2793G>A p.G931= Synonymous 43/52 -
2-3750004-G-A ALLC c.1027G>A p.D343N Missense 12/12 -
18-76753131-C-A SALL3 c.1140C>A p.I380= Synonymous 2/3 -
14-24878676-C-T NYNRIN c.1676C>T p.S559F Missense 4/9 -
5-140720544-C-T PCDHGA2 c.2006C>T p.P669L Missense 1/4 -
10-73121948-G-T SLC29A3 c.1011G>T p.S337= Synonymous 6/6 -
12-6061588-G-A VWF c.8084C>T p.P2695L Missense 49/52 -
6-135239959-C-T ALDH8A1 c.1058G>A p.W353* Nonsense 7/7 -
5-150867652-C-T SLC36A1 c.1268C>T p.T423I Missense 11/11 -
5-140215550-C-T PCDHA7 c.1582C>T p.L528= Synonymous 1/4 -
20-42602057-C-G TOX2 c.150C>G p.L50= Synonymous 2/9 -
20-42602057-C-A TOX2 c.150C>A p.L50= Synonymous 2/9 -
20-42602057-C-T TOX2 c.150C>T p.L50= Synonymous 2/9 -
16-5129078-C-G ALG1 c.876C>G p.F292L Missense 8/13 -
2-133541812-C-T NCKAP5 c.2572G>A p.E858K Missense 14/20 -
16-5129078-C-A ALG1 c.876C>A p.F292L Missense 8/13 -
8-69005912-C-T PREX2 c.2323C>T p.P775S Missense 21/40 -
5-34824515-C-T RAI14 c.2568C>T p.F856= Synonymous 15/18 -
1-12368648-C-A VPS13D c.6600C>A p.L2200= Synonymous 27/70 -
10-12131126-C-T DHTKD1 c.859C>T p.P287S Missense 5/17 -
2-108627010-T-A SLC5A7 c.1436T>A p.F479Y Missense 9/9 -
1-150478148-C-A TARS2 c.1975C>A p.R659= Synonymous 17/18 -
4-109784503-C-T COL25A1 c.1124G>A p.R375Q Missense 21/38 -
20-31814232-A-G BPIFA3 c.557A>G p.N186S Missense 5/7 -
2-179476232-C-T TTN c.50724G>A p.K16908= Synonymous 269/363 -
4-96046263-C-T BMPR1B c.576C>T p.L192= Synonymous 8/13 -
4-96046263-C-A BMPR1B c.576C>A p.L192= Synonymous 8/13 -
4-96046263-C-G BMPR1B c.576C>G p.L192= Synonymous 8/13 -
9-102988412-G-A INVS c.342G>A p.E114= Synonymous 4/17 -
16-67327835-C-T KCTD19 c.1830G>A p.K610= Synonymous 12/16 -
10-134179000-C-T LRRC27 c.1362C>T p.F454= Synonymous 10/11 -
15-57730330-C-T CGNL1 c.133C>T p.R45W Missense 2/19 -
4-111397949-G-A ENPEP c.379G>A p.A127T Missense 1/20 -
13-23909843-C-T SACS c.8172G>A p.Q2724= Synonymous 10/10 -
1-181058689-G-A IER5 c.651G>A p.R217= Synonymous 1/1 -
2-70315661-C-T PCBP1 c.786C>T p.S262= Synonymous 1/1 -
2-70315661-C-A PCBP1 c.786C>A p.S262= Synonymous 1/1 -
10-72061172-G-A LRRC20 c.493C>T p.P165S Missense 5/5 -
3-38207403-C-T OXSR1 c.36C>T p.I12= Synonymous 1/18 -
9-139412610-C-A NOTCH1 c.1234G>T p.D412Y Missense 7/34 -
3-151012160-G-A GPR87 c.874C>T p.L292= Synonymous 3/3 -
19-41939190-G-A DMAC2 c.583C>T p.L195F Missense 5/6 -
17-11608362-C-G DNAH9 c.5412C>G p.F1804L Missense 26/69 -
9-21974741-CG-TA CDKN2A c.85_86delCGinsTA p.R29* Nonsense 1/3 -
17-11608362-C-A DNAH9 c.5412C>A p.F1804L Missense 26/69 -
22-47070618-C-A GRAMD4 c.1449C>A p.I483= Synonymous 16/19 -
22-47070618-C-T GRAMD4 c.1449C>T p.I483= Synonymous 16/19 -
12-50499381-C-G GPD1 c.270C>G p.I90M Missense 3/8 -
3-123458838-C-T MYLK c.384G>A p.A128= Synonymous 6/34 -
19-30303923-G-C CCNE1 c.159G>C p.A53= Synonymous 4/12 -
19-30303923-G-A CCNE1 c.159G>A p.A53= Synonymous 4/12 -
11-6532624-C-T DNHD1 c.1357C>T p.R453C Missense 7/43 -
3-123458838-C-A MYLK c.384G>T p.A128= Synonymous 6/34 -
19-30303923-G-T CCNE1 c.159G>T p.A53= Synonymous 4/12 -
3-123458838-C-G MYLK c.384G>C p.A128= Synonymous 6/34 -
2-189857655-C-T COL3A1 c.1039C>T p.P347S Missense 15/51 -
11-44228500-T-C EXT2 c.1653T>C p.F551= Synonymous 10/14 -
10-6104088-T-C IL2RA c.27A>G p.G9= Synonymous 1/8 -
10-6104088-T-G IL2RA c.27A>C p.G9= Synonymous 1/8 -
20-52775584-G-A CYP24A1 c.1069C>T p.Q357* Nonsense 8/12 -
2-44079889-G-T ABCG8 c.846G>T p.L282= Synonymous 6/13 -
3-48607043-C-T COL7A1 c.7596G>A p.R2532= Synonymous 102/119 -
11-66061955-C-A TMEM151A c.238C>A p.R80= Synonymous 2/2 -
2-44079889-G-C ABCG8 c.846G>C p.L282= Synonymous 6/13 -
5-140249747-C-A PCDHA11 c.1059C>A p.S353= Synonymous 1/4 -
5-140249747-C-T PCDHA11 c.1059C>T p.S353= Synonymous 1/4 -
2-179604709-C-T TTN c.13251G>A p.E4417= Synonymous 48/363 -
11-64882979-G-T TM7SF2 c.1005G>T p.R335= Synonymous 9/10 -
6-10749493-C-G TMEM14B c.15C>G p.L5= Synonymous 2/6 -
22-25263091-T-C SGSM1 c.958T>C p.L320= Synonymous 10/25 -
16-49412398-C-A C16orf78 c.288C>A p.F96L Missense 3/5 -
2-73448309-C-T SMYD5 c.484C>T p.P162S Missense 5/13 -
16-49412398-C-G C16orf78 c.288C>G p.F96L Missense 3/5 -
X-153130912-C-T L1CAM c.2591G>A p.R864K Missense 21/29 -
5-140562799-G-A PCDHB16 c.665G>A p.R222Q Missense 1/1 -
12-31254896-C-T DDX11 c.2182C>T p.R728C Missense 21/27 -
2-99681422-G-A TSGA10 c.1384C>T p.L462F Missense 16/21 -
11-27679778-C-T BDNF c.334G>A p.E112K Missense 2/2 -
17-39871806-A-C GAST c.118A>C p.R40= Synonymous 2/3 -
19-16861113-C-T NWD1 c.1660C>T p.P554S Missense 6/19 -
8-113697866-T-G CSMD3 c.2251A>C p.I751L Missense 15/71 -
17-7318028-C-T NLGN2 c.705C>T p.L235= Synonymous 4/7 -
2-97543653-C-G FAM178B c.1981G>C p.E661Q Missense 16/17 -
17-7318028-C-G NLGN2 c.705C>G p.L235= Synonymous 4/7 -
17-7318028-C-A NLGN2 c.705C>A p.L235= Synonymous 4/7 -
22-37770870-G-A ELFN2 c.705C>T p.L235= Synonymous 3/3 -
6-147684632-C-T STXBP5 c.2707C>T p.P903S Missense 24/28 -
2-179464461-G-A TTN c.56167C>T p.P18723S Missense 289/363 -
11-7091657-A-G NLRP14 c.3116A>G p.K1039R Missense 11/12 -
14-67389515-C-T GPHN c.589C>T p.P197S Missense 7/23 -
19-15648384-C-T CYP4F22 c.460C>T p.R154W Missense 6/14 -
4-88534317-G-A DSPP c.979G>A p.E327K Missense 4/5 -
2-120980532-G-C TMEM185B c.21C>G p.F7L Missense 1/1 -
5-41019002-C-T MROH2B c.2560G>A p.D854N Missense 25/42 -
13-29600259-C-T MTUS2 c.1454C>T p.S475F Missense 3/16 -
3-143412037-G-A SLC9A9 c.646C>T p.P216S Missense 5/16 -
5-55260098-G-A IL6ST c.534C>T p.T178= Synonymous 6/17 -
5-55260098-G-T IL6ST c.534C>A p.T178= Synonymous 6/17 -
20-44663614-C-T SLC12A5 c.80C>T p.P27L Missense 2/26 -
5-140563012-A-T PCDHB16 c.878A>T p.E293V Missense 1/1 -
2-211457664-G-A CPS1 c.1148G>A p.G383E Missense 11/38 -
1-90180439-A-C LRRC8C c.2310A>C p.E770D Missense 3/3 -
16-83998922-G-C OSGIN1 c.744G>C p.T248= Synonymous 6/6 -
16-83998922-G-A OSGIN1 c.744G>A p.T248= Synonymous 6/6 -
15-25959170-G-A ATP10A c.1995C>T p.I665= Synonymous 10/21 -
2-232322978-C-G NCL c.1288G>C p.G430R Missense 8/14 -
11-4929450-C-T OR51A7 c.851C>T p.P284L Missense 2/2 -
11-6291080-C-T CCKBR c.333C>T p.T111= Synonymous 2/5 -
10-27447526-C-T MASTL c.235C>T p.Q79* Nonsense 2/12 -
2-190922215-G-A MSTN c.897C>T p.I299= Synonymous 3/3 -
8-10465821-C-T RP1L1 c.5787G>A p.G1929= Synonymous 4/4 -
8-10465821-C-A RP1L1 c.5787G>T p.G1929= Synonymous 4/4 -
8-10465821-C-G RP1L1 c.5787G>C p.G1929= Synonymous 4/4 -
22-29885192-G-A NEFH c.1563G>A p.K521= Synonymous 4/4 -
11-101374968-C-T TRPC6 c.732G>A p.R244= Synonymous 2/13 -
1-228033709-G-A PRSS38 c.781G>A p.G261R Missense 5/5 -
2-1652174-C-T PXDN c.3378G>A p.G1126= Synonymous 17/23 -
2-216289002-G-A FN1 c.1083C>T p.V361= Synonymous 8/46 -
2-216289002-G-C FN1 c.1083C>G p.V361= Synonymous 8/46 -
2-216289002-G-T FN1 c.1083C>A p.V361= Synonymous 8/46 -
7-11501756-T-G THSD7A c.2383A>C p.R795= Synonymous 10/28 -
8-110487486-C-T PKHD1L1 c.8745C>T p.F2915= Synonymous 51/78 -
7-151797916-G-C GALNT11 c.329G>C p.R110T Missense 3/12 -
4-114824184-C-T ARSJ c.1046G>A p.W349* Nonsense 2/2 -
5-126667004-G-A MEGF10 c.4G>A p.V2I Missense 2/25 -
5-137681005-C-T FAM53C c.628C>T p.P210S Missense 4/5 -
4-55956221-G-A KDR c.3094C>T p.R1032* Nonsense 23/30 -
12-108012029-G-A BTBD11 c.2326G>A p.E776K Missense 10/17 -
10-95386460-C-T PDE6C c.1003C>T p.P335S Missense 6/22 -
9-111624963-G-A ACTL7A c.361G>A p.E121K Missense 1/1 -
1-247695172-G-T OR2C3 c.642C>A p.L214= Synonymous