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Chr Start Stop Change Gene(s) HGVS_C HGVS_P Sample Count CMH MAF ACMG Cat. ACMG Note Curation
View 1 6508945 6508945 C > T ESPN NM_031475.2:c.1709C>T
NP_113663.2:p.Pro570Leu
41/5119 0.0041 5 non_synonymous Benign
View 1 6528302 6528302 T > C PLEKHG5 NM_001265593.1:c.2801A>G
NM_001265592.1:c.2831A>G
NM_001042665.1:c.2594A>G
NM_001042664.1:c.2594A>G
NM_020631.4:c.2594A>G
NM_198681.3:c.2825A>G
NM_001265594.1:c.2594A>G
NM_001042663.1:c.2762A>G
NP_001252522.1:p.Gln934Arg
NP_001252521.1:p.Gln944Arg
NP_001036130.1:p.Gln865Arg
NP_001036129.1:p.Gln865Arg
NP_065682.2:p.Gln865Arg
NP_941374.2:p.Gln942Arg
NP_001252523.1:p.Gln865Arg
NP_001036128.1:p.Gln921Arg
42/6913 0.00311 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 7723407 7723407 C > - CAMTA1 NM_015215.2:c.806-5del
95/5119 0.00938 5 polypyrimidine_tract Benign
View 1 8420503 8420503 G > C RERE NM_001042682.1:c.1402C>G
NM_012102.3:c.3064C>G
NM_001042681.1:c.3064C>G
NP_001036147.1:p.Pro468Ala
NP_036234.3:p.Pro1022Ala
NP_001036146.1:p.Pro1022Ala
18/5119 0.00186 5 non_synonymous Benign
View 1 8716306 8716307 - > CGGTCC RERE NM_012102.3:c.45_50dupGGACCG
NM_001042681.1:c.45_50dupGGACCG
NP_036234.3:p.Asp20_Arg21dup
NP_001036146.1:p.Asp20_Arg21dup
70/5119 0.00684 5 in_frame_indel Benign
View 1 12071540 12071540 C > A MFN2 NM_001127660.1:c.2205-13C>A
NM_014874.3:c.2205-13C>A
26/5101 0.00255 5 polypyrimidine_tract Benign
View 1 17380507 17380507 G > C TRNAN-GUU SDHB NM_003000.2:c.8C>G
NP_002991.2:p.Ala3Gly
28/5119 0.00273 5 Benign
View 1 21889760 21889760 G > A ALPL TRNAN-GUU NM_000478.4:c.455G>A
NM_001177520.1:c.224G>A
NM_001127501.2:c.290G>A
NP_000469.3:p.Arg152His
NP_001170991.1:p.Arg75His
NP_001120973.2:p.Arg97His
170/6913 0.01251 5 Benign
View 1 22202856 22202856 T > G TRNAN-GUU HSPG2 NM_005529.5:c.2869A>C
NP_005520.4:p.Asn957His
64/6913 0.00477 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 27087549 27087549 A > C TRNAN-GUU ARID1A NM_006015.4:c.2123A>C
NM_139135.2:c.2123A>C
NP_006006.3:p.Gln708Pro
NP_624361.1:p.Gln708Pro
4/5119 0.00039 5 non_synonymous Benign
View 1 27878415 27878415 G > A TRNAN-GUU AHDC1 NM_001029882.2:c.212C>T
NP_001025053.1:p.Thr71Ile
46/5119 0.00449 5 non_synonymous Benign
View 1 43396414 43396414 G > A TRNAN-GUU SLC2A1 NM_006516.2:c.399C>T
NM_006516.2:c.399C>T(p.%3D)
1720/5119 0.18568 5 Benign
View 1 45973124 45973124 G > C TRNAN-GUU MMACHC NM_015506.2:c.178G>C
NP_056321.2:p.Asp60His
93/6913 0.00687 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 52861899 52861899 T > G ORC1 TRNAN-GUU NM_004153.3:c.540A>C
NM_001190818.1:c.540A>C
NM_001190819.1:c.540A>C
NP_004144.2:p.Gln180His
NP_001177747.1:p.Gln180His
NP_001177748.1:p.Gln180His
37/5119 0.00381 5 non_synonymous Benign
View 1 53676401 53676401 T > G TRNAN-GUU CPT2 NM_000098.2:c.1055T>G
NP_000089.1:p.Phe352Cys
96/6913 0.00731 5 Benign
View 1 63021621 63021621 A > G DOCK7 TRNAN-GUU NM_001271999.1:c.2471T>C
NM_001272000.1:c.2471T>C
NM_033407.3:c.2471T>C
NM_001272001.1:c.2471T>C
NP_001258928.1:p.Ile824Thr
NP_001258929.1:p.Ile824Thr
NP_212132.2:p.Ile824Thr
NP_001258930.1:p.Ile824Thr
24/5119 0.00244 3 non_synonymous Benign
View 1 63085630 63085630 T > C TRNAN-GUU DOCK7 NM_033407.3:c.1460A>G
NM_001272000.1:c.1460A>G
NM_001271999.1:c.1460A>G
NM_001272001.1:c.1460A>G
NM_001272002.1:c.1460A>G
NP_212132.2:p.Lys487Arg
NP_001258929.1:p.Lys487Arg
NP_001258928.1:p.Lys487Arg
NP_001258930.1:p.Lys487Arg
NP_001258931.1:p.Lys487Arg
34/5119 0.00332 5 non_synonymous Benign
View 1 94497563 94497563 C > T TRNAN-GUU ABCA4 ENST00000370225.3:c.3899G>A
ENSP00000359245.3:p.Arg1300Gln
48/5119 0.00488 5 Benign
View 1 100681587 100681587 A > G TRNAN-GUU DBT ENST00000370132.4:c.724T>C
ENSP00000359151.3:p.Ser242Pro
132/6913 0.00955 5 non_synonymous Benign
View 1 103354135 103354135 G > C COL11A1 TRNAN-GUU NM_001190709.1:c.4489C>G
NM_080629.2:c.4642C>G
NM_080630.3:c.4258C>G
NM_001854.3:c.4606C>G
NP_001177638.1:p.Pro1497Ala
NP_542196.2:p.Pro1548Ala
NP_542197.3:p.Pro1420Ala
NP_001845.3:p.Pro1536Ala
105/5119 0.01045 5 non_synonymous Benign
View 1 103444970 103444970 A > T COL11A1 TRNAN-GUU NM_001190709.1:c.2461T>A
NM_080629.2:c.2614T>A
NM_080630.3:c.2230T>A
NM_001854.3:c.2578T>A
NP_001177638.1:p.Phe821Ile
NP_542196.2:p.Phe872Ile
NP_542197.3:p.Phe744Ile
NP_001845.3:p.Phe860Ile
38/5119 0.00371 5 Benign
View 1 116269619 116269619 T > C TRNAN-GUU CASQ2 NM_001232.3:c.731A>G
NP_001223.2:p.His244Arg
57/5119 0.00596 5 Benign
View 1 120491644 120491644 G > A TRNAN-GUU NOTCH2 NM_001200001.1:c.2585C>T
NM_024408.3:c.2585C>T
NP_001186930.1:p.Ala862Val
NP_077719.2:p.Ala862Val
8/5119 0.00078 5 non_synonymous Benign
View 1 155210498 155210498 T > C GBA NM_001005742.2:c.38A>G
NM_001171812.1:c.38A>G
NM_000157.3:c.38A>G
NM_001171811.1:c.-146-630A>G
NM_001005741.2:c.38A>G
NP_001005742.1:p.Lys13Arg
NP_001165283.1:p.Lys13Arg
NP_000148.2:p.Lys13Arg
NP_001005741.1:p.Lys13Arg
67/6913 0.00506 5 Benign
View 1 156105961 156105961 C > T LMNA NR_047544.1:n.1799-44C>T
NM_005572.3:c.1158-44C>T
NM_170708.3:c.1158-44C>T
NR_047545.1:n.1046-44C>T
NM_170707.3:c.1158-44C>T
NM_001257374.1:c.822-44C>T
90/5754 0.00782 4 Benign
View 1 156838432 156838432 C > T NTRK1 NM_001007792.1:c.620C>T
NM_002529.3:c.710C>T
NM_001012331.1:c.710C>T
NP_001007793.1:p.Thr207Met
NP_002520.2:p.Thr237Met
NP_001012331.1:p.Thr237Met
62/6913 0.00448 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 196965193 196965193 G > A CFHR5 NM_030787.3:c.832G>A
NP_110414.1:p.Gly278Ser
91/5119 0.00889 5 non_synonymous Benign
View 1 197072560 197072560 A > G ASPM NM_001206846.1:c.4066-7266T>C
NM_018136.4:c.5821T>C
NP_060606.3:p.Cys1941Arg
28/5119 0.00273 5 non_synonymous Benign
View 1 197072802 197072802 G > A ASPM NM_001206846.1:c.4066-7508C>T
NM_018136.4:c.5579C>T
NP_060606.3:p.Ala1860Val
27/5119 0.00264 5 non_synonymous Benign
View 1 197073318 197073318 G > A ASPM NM_001206846.1:c.4066-8024C>T
NM_018136.4:c.5063C>T
NP_060606.3:p.Thr1688Ile
28/5119 0.00273 5 non_synonymous Benign
View 1 197112094 197112094 T > C ASPM NM_018136.4:c.1288A>G
NM_001206846.1:c.1288A>G
NP_060606.3:p.Arg430Gly
NP_001193775.1:p.Arg430Gly
27/5119 0.00264 5 non_synonymous Benign
View 1 215848808 215848808 A > G USH2A ENST00000307340.3:c.12445T>C
ENSP00000305941.3:p.Trp4149Arg
40/6913 0.00289 5 Benign
View 1 216051125 216051125 G > A USH2A ENST00000307340.3:c.8656C>T
ENSP00000305941.3:p.Leu2886Phe
632/6913 0.04788 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 220369746 220369747 AA > - RAB3GAP2 NM_012414.3:c.812-7_812-6del
52/6913 0.00383 5 polypyrimidine_tract Benign
View 1 235909815 235909815 A > T LYST NM_000081.3:c.7793T>A
NP_000072.2:p.Phe2598Tyr
87/6913 0.00658 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 235926164 235926164 T > - LYST NM_000081.3:c.6122-13del
90/6895 0.00682 5 Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract Benign
View 1 236914923 236914923 A > G ACTN2 ENST00000366578.4:c.1810A>G
NM_001278344.1:c.1186A>G
ENST00000542672.1:c.1810A>G
ENSP00000355537.4:p.Met604Val
NP_001265273.1:p.Met396Val
ENSP00000443495.1:p.Met604Val
34/5119 0.00332 5 Common ExAC MAF original cat: TYPE_3 - non_synonymous Benign
View 1 237995837 237995837 C > G RYR2 NM_001035.2:c.14809-15C>G
71/5101 0.00696 5 polypyrimidine_tract Benign
View 1 240256187 240256187 G > A FMN2 NM_020066.4:c.778G>A
NP_064450.3:p.Ala260Thr
16/5119 0.00166 3 non_synonymous Benign
View 1 247587771 247587771 C > T NLRP3 ENST00000348069.2:c.1026C>T
ENST00000336119.3:c.1026C>T
ENST00000366497.2:c.1026C>T
ENST00000391827.2:c.1026C>T
ENST00000391828.3:c.1026C>T
ENST00000348069.2:c.1026C>T(p.%3D)
ENST00000336119.3:c.1026C>T(p.%3D)
ENST00000366497.2:c.1026C>T(p.%3D)
ENST00000391827.2:c.1026C>T(p.%3D)
ENST00000391828.3:c.1026C>T(p.%3D)
52/5120 0.00518 5 Benign
View 10 43601830 43601830 G > A RET ENST00000355710.3:c.874G>A
ENST00000340058.5:c.874G>A
ENSP00000347942.3:p.Val292Met
ENSP00000344798.4:p.Val292Met
5/5119 0.00049 5 Benign
View 10 43606650 43606650 C > T RET ENST00000355710.3:c.1264-5C>T
ENST00000340058.5:c.1264-5C>T
75/5119 0.00742 5 Benign
View 10 43609994 43609994 C > T RET ENST00000355710.3:c.1946C>T
ENST00000340058.5:c.1946C>T
ENSP00000347942.3:p.Ser649Leu
ENSP00000344798.4:p.Ser649Leu
2/5119 0.0002 5 Benign
View 10 55581883 55581885 GTT > - PCDH15 NM_001142767.1:c.5481_5483del
NM_001142770.1:c.4373+3011_4373+3013del
NM_033056.3:c.5601_5603del
NM_001142764.1:c.5607_5609del
NM_001142768.1:c.5541_5543del
NM_001142771.1:c.4388+3011_4388+3013del
NM_001142763.1:c.5622_5624del
NM_001142769.1:c.4409+3011_4409+3013del
NM_001142772.1:c.4373+3011_4373+3013del
NM_001142773.1:c.5532_5534del
NM_001142765.1:c.5394_5396del
NM_001142766.1:c.5592_5594del
NP_001136239.1:p.Thr1829del
NP_149045.3:p.Thr1869del
NP_001136236.1:p.Thr1871del
NP_001136240.1:p.Thr1849del
NP_001136235.1:p.Thr1876del
NP_001136245.1:p.Thr1846del
NP_001136237.1:p.Thr1800del
NP_001136238.1:p.Thr1866del
67/5119 0.00654 5 Benign
View 10 72360648 72360648 C > T PRF1 NM_001083116.1:c.11G>A
NM_005041.4:c.11G>A
NP_001076585.1:p.Arg4His
NP_005032.2:p.Arg4His
73/6913 0.0055 5 Benign
View 10 76781852 76781863 GAGGAGGAAGAA > - KAT6B NM_001256468.1:c.2703_2714del
NM_001256469.1:c.2376_2387del
NM_012330.3:c.3252_3263del
NP_001243397.1:p.Glu903_Glu906del
NP_001243398.1:p.Glu794_Glu797del
NP_036462.2:p.Glu1086_Glu1089del
93/5119 0.00908 5 in_frame_indel Benign
View 10 76788660 76788668 GAAGAGGAA > - KAT6B NM_001256468.1:c.3548_3556del
NM_001256469.1:c.3221_3229del
NM_012330.3:c.4097_4105del
NP_001243397.1:p.Glu1183_Glu1185del
NP_001243398.1:p.Glu1074_Glu1076del
NP_036462.2:p.Glu1366_Glu1368del
111/5120 0.01094 5 in_frame_indel Benign
View 10 94413508 94413508 G > C KIF11 NM_004523.3:c.3126G>C
NP_004514.2:p.Leu1042Phe
44/5119 0.0043 5 non_synonymous Benign
View 10 103825629 103825629 C > T HPS6 NM_024747.5:c.398C>T
NP_079023.2:p.Ala133Val
23/5119 0.00264 5 non_synonymous Benign
View 10 112771351 112771352 - > T SHOC2 NM_001269039.1:c.1403-7dupT
NM_007373.3:c.1541-7dupT
26/5101 0.00255 5 three_prime_flank Benign
Displaying 1 through 50 of 560 variants