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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 |
79/9594 | 0.00422 | 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 |
91/11422 | 0.00403 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 7723407 | 7723407 | C > - | CAMTA1 |
NM_015215.2:c.806-5del |
168/9594 | 0.00881 | 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 |
36/9594 | 0.00193 | 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 |
41/9594 | 0.00214 | 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 |
136/9594 | 0.00709 | 5 | in_frame_indel | Benign |
| View | 1 | 11252369 | 11252369 | G > A | ANGPTL7 MTOR |
NM_021146.3:c.419G>A NM_004958.3:c.4253+6946C>T |
NP_066969.1:p.Arg140His |
36/9556 | 0.00194 | 5 | non_synonymous | Benign |
| View | 1 | 11308007 | 11308007 | C > T | MTOR |
NM_004958.3:c.985G>A |
NP_004949.1:p.Ala329Thr |
67/9594 | 0.00349 | 5 | non_synonymous | Benign |
| View | 1 | 12017959 | 12017959 | A > G | PLOD1 |
NM_000302.3:c.802A>G |
NP_000293.2:p.Thr268Ala |
22/11422 | 0.00096 | 5 | non_synonymous | Benign |
| View | 1 | 12071540 | 12071540 | C > A | MFN2 MFN2 |
NM_001127660.1:c.2205-13C>A NM_014874.3:c.2205-13C>A |
58/9555 | 0.00304 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 17380507 | 17380507 | G > C | SDHB TRNAN-GUU |
NM_003000.2:c.8C>G |
NP_002991.2:p.Ala3Gly |
59/9594 | 0.00307 | 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 |
264/11422 | 0.01169 | 5 | Benign | |
| View | 1 | 21904140 | 21904140 | G > - | TRNAN-GUU ALPL ALPL ALPL |
ENST00000374840.3:c.1574del ENST00000539907.1:c.1343del ENST00000540617.1:c.1409del |
ENSP00000363973.3:p.Ter525= ENSP00000437674.1:p.Ter448= ENSP00000442672.1:p.Ter470= |
18/11422 | 0.00079 | 5 | premature_stop | Benign |
| View | 1 | 22202856 | 22202856 | T > G | TRNAN-GUU HSPG2 |
NM_005529.5:c.2869A>C |
NP_005520.4:p.Asn957His |
120/11422 | 0.00534 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 24671406 | 24671406 | C > A | GRHL3 TRNAN-GUU GRHL3 GRHL3 GRHL3 |
NM_198174.2:c.1439C>A NM_198173.2:c.1439C>A NM_001195010.1:c.1301C>A NM_021180.3:c.1454C>A |
NP_937817.3:p.Pro480His NP_937816.1:p.Pro480His NP_001181939.1:p.Pro434His NP_067003.2:p.Pro485His |
164/9594 | 0.00855 | 5 | 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 |
32/9594 | 0.00167 | 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 |
10/9594 | 0.00052 | 5 | non_synonymous | Benign |
| View | 1 | 27690770 | 27690770 | A > C | TRNAN-GUU MAP3K6 |
NM_004672.3:c.620T>G |
NP_004663.3:p.Val207Gly |
170/9594 | 0.00928 | 5 | Benign | |
| View | 1 | 27878415 | 27878415 | G > A | TRNAN-GUU AHDC1 |
NM_001029882.2:c.212C>T |
NP_001025053.1:p.Thr71Ile |
86/9594 | 0.00453 | 3 | non_synonymous | Benign |
| View | 1 | 32043806 | 32043806 | G > A | TRNAN-GUU TINAGL1 TINAGL1 TINAGL1 |
NM_001204415.1:c.-6+17G>A NM_001204414.1:c.310+747G>A NM_022164.2:c.310+747G>A |
79/9555 | 0.00419 | 5 | five_prime_intronic | Benign | |
| View | 1 | 43396414 | 43396414 | G > A | TRNAN-GUU SLC2A1 |
NM_006516.2:c.399C>T |
NP_006507.2:p.Cys133= |
3122/9594 | 0.1797 | 5 | Benign | |
| View | 1 | 45973124 | 45973124 | G > C | TRNAN-GUU MMACHC |
NM_015506.2:c.178G>C |
NP_056321.2:p.Asp60His |
176/11422 | 0.00797 | 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 |
68/9594 | 0.00365 | 5 | non_synonymous | Benign |
| View | 1 | 53676401 | 53676401 | T > G | TRNAN-GUU CPT2 |
NM_000098.2:c.1055T>G |
NP_000089.1:p.Phe352Cys |
194/11422 | 0.00884 | 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 |
60/9594 | 0.00323 | 4 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |
| View | 1 | 63044648 | 63044648 | A > - | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1872-9del NM_001271999.1:c.1872-9del NM_033407.3:c.1872-9del NM_001272001.1:c.1872-9del |
169/9555 | 0.0089 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 63044648 | 63044649 | - > A | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.1872-9dupT NM_001271999.1:c.1872-9dupT NM_033407.3:c.1872-9dupT NM_001272001.1:c.1872-9dupT |
25/9555 | 0.00131 | 5 | polypyrimidine_tract | 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 |
72/9594 | 0.00375 | 5 | non_synonymous | Benign |
| View | 1 | 63788984 | 63788995 | GGCCGGAGCCGG > - | TRNAN-GUU FOXD3 |
NM_012183.2:c.262_273del |
NP_036315.1:p.Ala88_Gly91del |
89/9594 | 0.00474 | 5 | in_frame_indel | Benign |
| View | 1 | 68897002 | 68897002 | G > A | TRNAN-GUU RPE65 |
NM_000329.2:c.1301C>T |
NP_000320.1:p.Ala434Val |
128/9594 | 0.00688 | 5 | Benign | |
| View | 1 | 92763093 | 92763093 | A > - | TRNAN-GUU GLMN |
NM_053274.2:c.40-6del |
149/9594 | 0.00803 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 94461749 | 94461749 | C > T | TRNAN-GUU ABCA4 |
ENST00000370225.3:c.6732G>A |
ENSP00000359245.3:p.Val2244= |
126/9595 | 0.00683 | 5 | Benign | |
| View | 1 | 94497563 | 94497563 | C > T | TRNAN-GUU ABCA4 |
ENST00000370225.3:c.3899G>A |
ENSP00000359245.3:p.Arg1300Gln |
114/9594 | 0.0061 | 5 | Benign | |
| View | 1 | 94505604 | 94505604 | A > C | TRNAN-GUU ABCA4 |
ENST00000370225.3:c.3602T>G |
ENSP00000359245.3:p.Leu1201Arg |
170/9594 | 0.00938 | 5 | Benign | |
| View | 1 | 100327088 | 100327088 | A > G | AGL AGL TRNAN-GUU AGL AGL AGL AGL |
NM_000642.2:c.112A>G NM_000643.2:c.112A>G NM_000644.2:c.112A>G NM_000645.2:c.61A>G NM_000646.2:c.64A>G NM_000028.2:c.112A>G |
NP_000633.2:p.Thr38Ala NP_000634.2:p.Thr38Ala NP_000635.2:p.Thr38Ala NP_000636.2:p.Thr21Ala NP_000637.2:p.Thr22Ala NP_000019.2:p.Thr38Ala |
102/11422 | 0.00455 | 5 | Benign | |
| View | 1 | 100681587 | 100681587 | A > G | TRNAN-GUU DBT |
ENST00000370132.4:c.724T>C |
ENSP00000359151.3:p.Ser242Pro |
196/11422 | 0.00867 | 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 |
174/9594 | 0.00917 | 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 |
87/9594 | 0.00453 | 5 | Benign | |
| View | 1 | 114372335 | 114372335 | A > - | PTPN22 TRNAN-GUU PTPN22 |
ENST00000359785.5:c.2135-4del ENST00000528414.1:c.1970-4del |
274/9594 | 0.02137 | 5 | polypyrimidine_tract | Benign | |
| View | 1 | 116269619 | 116269619 | T > C | CASQ2 TRNAN-GUU |
NM_001232.3:c.731A>G |
NP_001223.2:p.His244Arg |
132/9594 | 0.00735 | 5 | Benign | |
| View | 1 | 119964831 | 119964831 | T > C | HSD3B2 HSD3B2 TRNAN-GUU |
NM_001166120.1:c.707T>C NM_000198.3:c.707T>C |
NP_001159592.1:p.Leu236Ser NP_000189.1:p.Leu236Ser |
77/11422 | 0.00355 | 5 | Benign | |
| View | 1 | 120465262 | 120465262 | C > T | TRNAN-GUU NOTCH2 |
NM_024408.3:c.4999G>A |
NP_077719.2:p.Val1667Ile |
67/9594 | 0.00354 | 5 | non_synonymous | Benign |
| View | 1 | 120469147 | 120469147 | T > C | TRNAN-GUU NOTCH2 |
NM_024408.3:c.3980A>G |
NP_077719.2:p.Asp1327Gly |
150/9595 | 0.00792 | 5 | 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 |
13/9594 | 0.00068 | 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 |
5899/9594 | 0.30806 | 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 |
5965/9594 | 0.31144 | 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 |
7845/9604 | 0.40983 | 5 | non_synonymous | Benign |
| View | 1 | 152280325 | 152280325 | A > G | FLG |
NM_002016.1:c.7037T>C |
NP_002007.1:p.Ile2346Thr |
77/9555 | 0.00413 | 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 |
157/11422 | 0.00709 | 5 | Benign | |
| View | 1 | 155408644 | 155408644 | G > A | ASH1L |
NM_018489.2:c.5302C>T |
NP_060959.2:p.Pro1768Ser |
39/9594 | 0.00203 | 5 | non_synonymous | Benign |