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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 |
56/6955 | 0.0041 | 5 | non_synonymous | Benign |
| View | 1 | 6528302 | 6528302 | T > C | PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 |
NM_001042663.1:c.2762A>G NM_001042665.1:c.2594A>G NM_001042664.1:c.2594A>G NM_001265593.1:c.2801A>G NM_020631.4:c.2594A>G NM_001265594.1:c.2594A>G NM_001265592.1:c.2831A>G NM_198681.3:c.2825A>G |
NP_001036128.1:p.Gln921Arg NP_001036130.1:p.Gln865Arg NP_001036129.1:p.Gln865Arg NP_001252522.1:p.Gln934Arg NP_065682.2:p.Gln865Arg NP_001252523.1:p.Gln865Arg NP_001252521.1:p.Gln944Arg NP_941374.2:p.Gln942Arg |
59/8745 | 0.00343 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 7723407 | 7723407 | C > - | CAMTA1 |
NM_015215.2:c.806-5del |
131/6955 | 0.00949 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 8420503 | 8420503 | G > C | RERE RERE RERE |
NM_012102.3:c.3064C>G NM_001042682.1:c.1402C>G NM_001042681.1:c.3064C>G |
NP_036234.3:p.Pro1022Ala NP_001036147.1:p.Pro468Ala NP_001036146.1:p.Pro1022Ala |
25/6955 | 0.00187 | 5 | non_synonymous | Benign |
| View | 1 | 8526071 | 8526071 | C > T | RERE RERE |
NM_012102.3:c.1117G>A NM_001042681.1:c.1117G>A |
NP_036234.3:p.Gly373Ser NP_001036146.1:p.Gly373Ser |
31/6955 | 0.00223 | 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 |
92/6955 | 0.00661 | 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 |
38/6916 | 0.00275 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 17380507 | 17380507 | G > C | SDHB TRNAN-GUU |
NM_003000.2:c.8C>G |
NP_002991.2:p.Ala3Gly |
40/6955 | 0.00288 | 5 | Benign | |
| View | 1 | 21889760 | 21889760 | G > A | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.455G>A ENST00000539907.1:c.224G>A ENST00000540617.1:c.290G>A |
ENSP00000363973.3:p.Arg152His ENSP00000437674.1:p.Arg75His ENSP00000442672.1:p.Arg97His |
207/8745 | 0.01201 | 5 | Benign | |
| View | 1 | 22202856 | 22202856 | T > G | TRNAN-GUU HSPG2 |
NM_005529.5:c.2869A>C |
NP_005520.4:p.Asn957His |
83/8745 | 0.00486 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 27023252 | 27023252 | C > T | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.358C>T NM_006015.4:c.358C>T |
NP_624361.1:p.Pro120Ser NP_006006.3:p.Pro120Ser |
13/6955 | 0.00093 | 5 | Benign | |
| View | 1 | 27087549 | 27087549 | A > C | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.2123A>C NM_006015.4:c.2123A>C |
NP_624361.1:p.Gln708Pro NP_006006.3:p.Gln708Pro |
9/6955 | 0.00065 | 5 | non_synonymous | Benign |
| View | 1 | 27690770 | 27690770 | A > C | TRNAN-GUU MAP3K6 |
NM_004672.3:c.620T>G |
NP_004663.3:p.Val207Gly |
120/6955 | 0.00913 | 5 | Benign | |
| View | 1 | 27878415 | 27878415 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.212C>T |
NP_001025053.1:p.Thr71Ile |
58/6955 | 0.00417 | 3 | non_synonymous | Benign |
| View | 1 | 43396414 | 43396414 | G > A | TRNAN-GUU SLC2A1 |
NM_006516.2:c.399C>T |
NP_006507.2:p.Cys133= |
2299/6955 | 0.18246 | 5 | Benign | |
| View | 1 | 45973124 | 45973124 | G > C | TRNAN-GUU MMACHC |
NM_015506.2:c.178G>C |
NP_056321.2:p.Asp60His |
124/8745 | 0.00738 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 52861899 | 52861899 | T > G | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.540A>C NM_004153.3:c.540A>C NM_001190819.1:c.540A>C |
NP_001177747.1:p.Gln180His NP_004144.2:p.Gln180His NP_001177748.1:p.Gln180His |
49/6955 | 0.00367 | 5 | non_synonymous | Benign |
| View | 1 | 53676401 | 53676401 | T > G | TRNAN-GUU CPT2 |
NM_000098.2:c.1055T>G |
NP_000089.1:p.Phe352Cys |
133/8745 | 0.00789 | 5 | Benign | |
| View | 1 | 63021621 | 63021621 | A > G | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.2471T>C NM_001271999.1:c.2471T>C NM_033407.3:c.2471T>C NM_001272001.1:c.2471T>C |
NP_001258929.1:p.Ile824Thr NP_001258928.1:p.Ile824Thr NP_212132.2:p.Ile824Thr NP_001258930.1:p.Ile824Thr |
35/6955 | 0.00266 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 63085630 | 63085630 | T > C | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1460A>G NM_001271999.1:c.1460A>G NM_033407.3:c.1460A>G NM_001272002.1:c.1460A>G NM_001272001.1:c.1460A>G |
NP_001258929.1:p.Lys487Arg NP_001258928.1:p.Lys487Arg NP_212132.2:p.Lys487Arg NP_001258931.1:p.Lys487Arg NP_001258930.1:p.Lys487Arg |
47/6955 | 0.00338 | 5 | non_synonymous | Benign |
| View | 1 | 68897002 | 68897002 | G > A | TRNAN-GUU RPE65 |
NM_000329.2:c.1301C>T |
NP_000320.1:p.Ala434Val |
84/6955 | 0.00633 | 5 | Benign | |
| View | 1 | 94497563 | 94497563 | C > T | TRNAN-GUU ABCA4 |
ENST00000370225.3:c.3899G>A |
ENSP00000359245.3:p.Arg1300Gln |
77/6955 | 0.00568 | 5 | Benign | |
| View | 1 | 94505604 | 94505604 | A > C | TRNAN-GUU ABCA4 |
ENST00000370225.3:c.3602T>G |
ENSP00000359245.3:p.Leu1201Arg |
110/6955 | 0.00841 | 5 | Benign | |
| View | 1 | 100681587 | 100681587 | A > G | TRNAN-GUU DBT |
ENST00000370132.4:c.724T>C |
ENSP00000359151.3:p.Ser242Pro |
157/8745 | 0.00903 | 5 | non_synonymous | Benign |
| View | 1 | 103354135 | 103354135 | G > C | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_080629.2:c.4642C>G NM_001854.3:c.4606C>G NM_001190709.1:c.4489C>G NM_080630.3:c.4258C>G |
NP_542196.2:p.Pro1548Ala NP_001845.3:p.Pro1536Ala NP_001177638.1:p.Pro1497Ala NP_542197.3:p.Pro1420Ala |
137/6955 | 0.00999 | 5 | non_synonymous | Benign |
| View | 1 | 103444970 | 103444970 | A > T | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_080629.2:c.2614T>A NM_001854.3:c.2578T>A NM_001190709.1:c.2461T>A NM_080630.3:c.2230T>A |
NP_542196.2:p.Phe872Ile NP_001845.3:p.Phe860Ile NP_001177638.1:p.Phe821Ile NP_542197.3:p.Phe744Ile |
62/6955 | 0.00446 | 5 | Benign | |
| View | 1 | 116269619 | 116269619 | T > C | CASQ2 TRNAN-GUU |
NM_001232.3:c.731A>G |
NP_001223.2:p.His244Arg |
83/6955 | 0.0064 | 5 | Benign | |
| View | 1 | 120465262 | 120465262 | C > T | TRNAN-GUU NOTCH2 |
NM_024408.3:c.4999G>A |
NP_077719.2:p.Val1667Ile |
42/6955 | 0.00309 | 5 | non_synonymous | Benign |
| View | 1 | 120491644 | 120491644 | G > A | NOTCH2 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 |
9/6955 | 0.00065 | 5 | non_synonymous | Benign |
| View | 1 | 120572547 | 120572547 | T > C | NOTCH2 TRNAN-GUU NOTCH2 |
NM_001200001.1:c.137A>G NM_024408.3:c.137A>G |
NP_001186930.1:p.Asn46Ser NP_077719.2:p.Asn46Ser |
4522/6955 | 0.32602 | 5 | non_synonymous | Benign |
| View | 1 | 120572572 | 120572572 | C > T | NOTCH2 TRNAN-GUU NOTCH2 |
NM_001200001.1:c.112G>A NM_024408.3:c.112G>A |
NP_001186930.1:p.Glu38Lys NP_077719.2:p.Glu38Lys |
4576/6955 | 0.32976 | 5 | non_synonymous | Benign |
| View | 1 | 120611964 | 120611964 | G > C | NOTCH2 TRNAN-GUU NOTCH2 |
NM_001200001.1:c.57C>G NM_024408.3:c.57C>G |
NP_001186930.1:p.Cys19Trp NP_077719.2:p.Cys19Trp |
5853/6962 | 0.42179 | 5 | non_synonymous | Benign |
| View | 1 | 155210498 | 155210498 | T > C | GBA GBA GBA GBA GBA |
NM_001171812.1:c.38A>G NM_001171811.1:c.-146-630A>G NM_001005741.2:c.38A>G NM_001005742.2:c.38A>G NM_000157.3:c.38A>G |
NP_001165283.1:p.Lys13Arg NP_001005741.1:p.Lys13Arg NP_001005742.1:p.Lys13Arg NP_000148.2:p.Lys13Arg |
112/8745 | 0.00669 | 5 | Benign | |
| View | 1 | 156105961 | 156105961 | C > T | LMNA LMNA LMNA LMNA LMNA LMNA |
NM_001257374.1:c.822-44C>T NM_005572.3:c.1158-44C>T NR_047544.1:n.1799-44C>T NR_047545.1:n.1046-44C>T NM_170707.3:c.1158-44C>T NM_170708.3:c.1158-44C>T |
105/7570 | 0.00694 | 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 |
90/8745 | 0.0052 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 162741795 | 162741795 | G > A | DDR2 DDR2 |
NM_001014796.1:c.1505-19G>A NM_006182.2:c.1505-19G>A |
73/6918 | 0.00528 | 5 | three_prime_flank | Benign | |
| View | 1 | 173797448 | 173797449 | - > T | DARS2 |
NM_018122.4:c.228-20dupT |
24/6916 | 0.00174 | 5 | ClinVar pathogenic variant | Benign | |
| View | 1 | 196965193 | 196965193 | G > A | CFHR5 |
NM_030787.3:c.832G>A |
NP_110414.1:p.Gly278Ser |
123/6955 | 0.00884 | 5 | non_synonymous | Benign |
| View | 1 | 197072560 | 197072560 | A > G | ASPM ASPM |
NM_001206846.1:c.4066-7266T>C NM_018136.4:c.5821T>C |
NP_060606.3:p.Cys1941Arg |
49/6955 | 0.00352 | 5 | non_synonymous | Benign |
| View | 1 | 197072802 | 197072802 | G > A | ASPM ASPM |
NM_001206846.1:c.4066-7508C>T NM_018136.4:c.5579C>T |
NP_060606.3:p.Ala1860Val |
48/6955 | 0.00345 | 5 | non_synonymous | Benign |
| View | 1 | 197073318 | 197073318 | G > A | ASPM ASPM |
NM_001206846.1:c.4066-8024C>T NM_018136.4:c.5063C>T |
NP_060606.3:p.Thr1688Ile |
49/6955 | 0.00352 | 5 | non_synonymous | Benign |
| View | 1 | 197112094 | 197112094 | T > C | ASPM ASPM |
NM_001206846.1:c.1288A>G NM_018136.4:c.1288A>G |
NP_001193775.1:p.Arg430Gly NP_060606.3:p.Arg430Gly |
43/6955 | 0.00309 | 5 | non_synonymous | Benign |
| View | 1 | 215848808 | 215848808 | A > G | USH2A |
ENST00000307340.3:c.12445T>C |
ENSP00000305941.3:p.Trp4149Arg |
50/8745 | 0.00286 | 5 | Benign | |
| View | 1 | 216051125 | 216051125 | G > A | USH2A |
ENST00000307340.3:c.8656C>T |
ENSP00000305941.3:p.Leu2886Phe |
816/8745 | 0.04894 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 216166454 | 216166454 | T > G | USH2A |
ENST00000307340.3:c.6713A>C |
ENSP00000305941.3:p.Glu2238Ala |
398/8745 | 0.0231 | 5 | Benign | |
| View | 1 | 216172299 | 216172299 | C > G | USH2A |
ENST00000307340.3:c.6587G>C |
ENSP00000305941.3:p.Ser2196Thr |
185/8745 | 0.01121 | 5 | Benign | |
| View | 1 | 220369746 | 220369747 | AA > - | RAB3GAP2 |
NM_012414.3:c.812-7_812-6del |
62/8745 | 0.0036 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 235909815 | 235909815 | A > T | LYST |
NM_000081.3:c.7793T>A |
NP_000072.2:p.Phe2598Tyr |
109/8745 | 0.00646 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 235926164 | 235926164 | T > - | LYST |
NM_000081.3:c.6122-13del |
110/8706 | 0.00655 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |
| View | 1 | 236914923 | 236914923 | A > G | ACTN2 ACTN2 ACTN2 |
ENST00000542672.1:c.1810A>G NM_001278344.1:c.1186A>G ENST00000366578.4:c.1810A>G |
ENSP00000443495.1:p.Met604Val NP_001265273.1:p.Met396Val ENSP00000355537.4:p.Met604Val |
65/6955 | 0.00474 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |