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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 |
45/6213 | 0.0037 | 5 | non_synonymous | Benign |
| View | 1 | 6528302 | 6528302 | T > C | PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 |
NM_001265593.1:c.2801A>G NM_001265592.1:c.2831A>G NM_001042665.1:c.2594A>G NM_020631.4:c.2594A>G NM_001042664.1: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_065682.2:p.Gln865Arg NP_001036129.1:p.Gln865Arg NP_941374.2:p.Gln942Arg NP_001252523.1:p.Gln865Arg NP_001036128.1:p.Gln921Arg |
54/8004 | 0.00344 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 7723407 | 7723407 | C > - | CAMTA1 |
NM_015215.2:c.806-5del |
113/6213 | 0.00917 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 8420503 | 8420503 | G > C | RERE RERE 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 |
24/6213 | 0.00201 | 5 | non_synonymous | Benign |
| View | 1 | 8716306 | 8716307 | - > CGGTCC | RERE 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 |
81/6213 | 0.00652 | 5 | in_frame_indel | Benign |
| View | 1 | 12071540 | 12071540 | C > A | MFN2 MFN2 |
NM_001127660.1:c.2205-13C>A NM_014874.3:c.2205-13C>A |
32/6174 | 0.00259 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 17380507 | 17380507 | G > C | TRNAN-GUU SDHB |
NM_003000.2:c.8C>G |
NP_002991.2:p.Ala3Gly |
33/6213 | 0.00266 | 5 | Benign | |
| View | 1 | 21889760 | 21889760 | G > A | TRNAN-GUU ALPL ALPL ALPL |
ENST00000540617.1:c.290G>A ENST00000539907.1:c.224G>A ENST00000374840.3:c.455G>A |
ENSP00000442672.1:p.Arg97His ENSP00000437674.1:p.Arg75His ENSP00000363973.3:p.Arg152His |
188/8004 | 0.01193 | 5 | Benign | |
| View | 1 | 22202856 | 22202856 | T > G | TRNAN-GUU HSPG2 |
NM_005529.5:c.2869A>C |
NP_005520.4:p.Asn957His |
72/8004 | 0.00462 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 27023252 | 27023252 | C > T | TRNAN-GUU ARID1A ARID1A |
NM_006015.4:c.358C>T NM_139135.2:c.358C>T |
NP_006006.3:p.Pro120Ser NP_624361.1:p.Pro120Ser |
9/6213 | 0.00072 | 5 | Benign | |
| View | 1 | 27087549 | 27087549 | A > C | TRNAN-GUU ARID1A ARID1A |
NM_006015.4:c.2123A>C NM_139135.2:c.2123A>C |
NP_006006.3:p.Gln708Pro NP_624361.1:p.Gln708Pro |
9/6213 | 0.00072 | 5 | non_synonymous | Benign |
| View | 1 | 27690770 | 27690770 | A > C | TRNAN-GUU MAP3K6 |
NM_004672.3:c.620T>G |
NP_004663.3:p.Val207Gly |
89/6213 | 0.00765 | 5 | Benign | |
| View | 1 | 27878415 | 27878415 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.212C>T |
NP_001025053.1:p.Thr71Ile |
54/6213 | 0.00435 | 3 | non_synonymous | Benign |
| View | 1 | 43396414 | 43396414 | G > A | TRNAN-GUU SLC2A1 |
NM_006516.2:c.399C>T |
NP_006507.2:p.Cys133= |
2032/6213 | 0.18011 | 5 | Benign | |
| View | 1 | 45973124 | 45973124 | G > C | TRNAN-GUU MMACHC |
NM_015506.2:c.178G>C |
NP_056321.2:p.Asp60His |
113/8004 | 0.00731 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 52861899 | 52861899 | T > G | ORC1 ORC1 TRNAN-GUU ORC1 |
NM_001190819.1:c.540A>C NM_001190818.1:c.540A>C NM_004153.3:c.540A>C |
NP_001177748.1:p.Gln180His NP_001177747.1:p.Gln180His NP_004144.2:p.Gln180His |
40/6213 | 0.00338 | 5 | non_synonymous | Benign |
| View | 1 | 53676401 | 53676401 | T > G | TRNAN-GUU CPT2 |
NM_000098.2:c.1055T>G |
NP_000089.1:p.Phe352Cys |
114/8004 | 0.00743 | 5 | Benign | |
| View | 1 | 63021621 | 63021621 | A > G | TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 |
NM_033407.3:c.2471T>C NM_001272000.1:c.2471T>C NM_001271999.1:c.2471T>C NM_001272001.1:c.2471T>C |
NP_212132.2:p.Ile824Thr NP_001258929.1:p.Ile824Thr NP_001258928.1:p.Ile824Thr NP_001258930.1:p.Ile824Thr |
28/6213 | 0.00241 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 63085630 | 63085630 | T > C | TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 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 |
40/6213 | 0.00322 | 5 | non_synonymous | Benign |
| View | 1 | 94497563 | 94497563 | C > T | TRNAN-GUU ABCA4 |
ENST00000370225.3:c.3899G>A |
ENSP00000359245.3:p.Arg1300Gln |
63/6213 | 0.00523 | 5 | Benign | |
| View | 1 | 100681587 | 100681587 | A > G | TRNAN-GUU DBT |
ENST00000370132.4:c.724T>C |
ENSP00000359151.3:p.Ser242Pro |
145/8004 | 0.00912 | 5 | non_synonymous | Benign |
| View | 1 | 103354135 | 103354135 | G > C | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
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 |
127/6213 | 0.01038 | 5 | non_synonymous | Benign |
| View | 1 | 103444970 | 103444970 | A > T | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
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 |
48/6213 | 0.00386 | 5 | Benign | |
| View | 1 | 116269619 | 116269619 | T > C | TRNAN-GUU CASQ2 |
NM_001232.3:c.731A>G |
NP_001223.2:p.His244Arg |
75/6213 | 0.00644 | 5 | Benign | |
| View | 1 | 120491644 | 120491644 | G > A | TRNAN-GUU NOTCH2 NOTCH2 |
NM_001200001.1:c.2585C>T NM_024408.3:c.2585C>T |
NP_001186930.1:p.Ala862Val NP_077719.2:p.Ala862Val |
9/6213 | 0.00072 | 5 | non_synonymous | Benign |
| View | 1 | 155210498 | 155210498 | T > C | GBA GBA GBA GBA 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 |
90/8004 | 0.00587 | 5 | Benign | |
| View | 1 | 156105961 | 156105961 | C > T | LMNA LMNA LMNA LMNA LMNA 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 |
96/6828 | 0.00703 | 4 | Benign | ||
| View | 1 | 156838432 | 156838432 | C > T | NTRK1 NTRK1 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 |
74/8004 | 0.00462 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 173797448 | 173797449 | - > T | DARS2 |
NM_018122.4:c.228-20dupT |
23/6174 | 0.00186 | 5 | ClinVar pathogenic variant | Benign | |
| View | 1 | 196965193 | 196965193 | G > A | CFHR5 |
NM_030787.3:c.832G>A |
NP_110414.1:p.Gly278Ser |
111/6213 | 0.00893 | 5 | non_synonymous | Benign |
| View | 1 | 197072560 | 197072560 | A > G | ASPM ASPM |
NM_018136.4:c.5821T>C NM_001206846.1:c.4066-7266T>C |
NP_060606.3:p.Cys1941Arg |
42/6213 | 0.00338 | 5 | non_synonymous | Benign |
| View | 1 | 197072802 | 197072802 | G > A | ASPM ASPM |
NM_018136.4:c.5579C>T NM_001206846.1:c.4066-7508C>T |
NP_060606.3:p.Ala1860Val |
41/6213 | 0.0033 | 5 | non_synonymous | Benign |
| View | 1 | 197073318 | 197073318 | G > A | ASPM ASPM |
NM_018136.4:c.5063C>T NM_001206846.1:c.4066-8024C>T |
NP_060606.3:p.Thr1688Ile |
42/6213 | 0.00338 | 5 | non_synonymous | Benign |
| View | 1 | 197112094 | 197112094 | T > C | ASPM ASPM |
NM_018136.4:c.1288A>G NM_001206846.1:c.1288A>G |
NP_060606.3:p.Arg430Gly NP_001193775.1:p.Arg430Gly |
38/6213 | 0.00306 | 5 | non_synonymous | Benign |
| View | 1 | 215848808 | 215848808 | A > G | USH2A |
ENST00000307340.3:c.12445T>C |
ENSP00000305941.3:p.Trp4149Arg |
44/8004 | 0.00275 | 5 | Benign | |
| View | 1 | 216051125 | 216051125 | G > A | USH2A |
ENST00000307340.3:c.8656C>T |
ENSP00000305941.3:p.Leu2886Phe |
736/8004 | 0.04823 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 216172299 | 216172299 | C > G | USH2A |
ENST00000307340.3:c.6587G>C |
ENSP00000305941.3:p.Ser2196Thr |
164/8004 | 0.01093 | 5 | Benign | |
| View | 1 | 220369746 | 220369747 | AA > - | RAB3GAP2 |
NM_012414.3:c.812-7_812-6del |
58/8004 | 0.00369 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 235909815 | 235909815 | A > T | LYST |
NM_000081.3:c.7793T>A |
NP_000072.2:p.Phe2598Tyr |
100/8004 | 0.0065 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 235926164 | 235926164 | T > - | LYST |
NM_000081.3:c.6122-13del |
101/7965 | 0.00659 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 1 | 236914923 | 236914923 | A > G | ACTN2 ACTN2 ACTN2 |
NM_001278344.1:c.1186A>G ENST00000366578.4:c.1810A>G ENST00000542672.1:c.1810A>G |
NP_001265273.1:p.Met396Val ENSP00000355537.4:p.Met604Val ENSP00000443495.1:p.Met604Val |
53/6213 | 0.00435 | 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 |
79/6174 | 0.0064 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 240256187 | 240256187 | G > A | FMN2 |
NM_020066.4:c.778G>A |
NP_064450.3:p.Ala260Thr |
25/6213 | 0.00209 | 3 | non_synonymous | Benign |
| View | 1 | 247587771 | 247587771 | C > T | NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 |
ENST00000391827.2:c.1026C>T ENST00000366497.2:c.1026C>T ENST00000348069.2:c.1026C>T ENST00000391828.3:c.1026C>T ENST00000336119.3:c.1026C>T |
ENSP00000375703.2:p.Pro342= ENSP00000355453.2:p.Pro342= ENSP00000294752.3:p.Pro342= ENSP00000375704.3:p.Pro342= ENSP00000337383.3:p.Pro342= |
61/6214 | 0.00499 | 5 | Benign | |
| View | 1 | 247608148 | 247608148 | C > T | NLRP3 NLRP3 NLRP3 NLRP3 NLRP3 |
ENST00000391827.2:c.2840+25C>T ENST00000366497.2:c.2840+25C>T ENST00000348069.2:c.2669+25C>T ENST00000391828.3:c.3011+25C>T ENST00000336119.3:c.3011+25C>T |
120/6174 | 0.0098 | 4 | Benign | ||
| View | 10 | 43601830 | 43601830 | G > A | RET RET |
ENST00000340058.5:c.874G>A ENST00000355710.3:c.874G>A |
ENSP00000344798.4:p.Val292Met ENSP00000347942.3:p.Val292Met |
8/6213 | 0.00064 | 5 | Benign | |
| View | 10 | 43606650 | 43606650 | C > T | RET RET |
ENST00000340058.5:c.1264-5C>T ENST00000355710.3:c.1264-5C>T |
95/6213 | 0.00781 | 5 | Benign | ||
| View | 10 | 43609994 | 43609994 | C > T | RET RET |
ENST00000340058.5:c.1946C>T ENST00000355710.3:c.1946C>T |
ENSP00000344798.4:p.Ser649Leu ENSP00000347942.3:p.Ser649Leu |
3/6213 | 0.00024 | 5 | Benign | |
| View | 10 | 55581883 | 55581885 | GTT > - | PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 PCDH15 |
NM_033056.3:c.5601_5603del NM_001142770.1:c.4373+3011_4373+3013del NM_001142767.1:c.5481_5483del NM_001142764.1:c.5607_5609del NM_001142771.1:c.4388+3011_4388+3013del NM_001142768.1:c.5541_5543del NM_001142763.1:c.5622_5624del NM_001142772.1:c.4373+3011_4373+3013del NM_001142769.1:c.4409+3011_4409+3013del NM_001142773.1:c.5532_5534del NM_001142765.1:c.5394_5396del NM_001142766.1:c.5592_5594del |
NP_149045.3:p.Thr1869del NP_001136239.1:p.Thr1829del 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 |
92/6213 | 0.00748 | 5 | Benign | |
| View | 10 | 72360648 | 72360648 | C > T | PRF1 PRF1 |
NM_001083116.1:c.11G>A NM_005041.4:c.11G>A |
NP_001076585.1:p.Arg4His NP_005032.2:p.Arg4His |
91/8004 | 0.00587 | 5 | Benign |