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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 | 53675923 | 53675923 | C > T | TRNAN-GUU CPT2 |
NM_000098.2:c.577C>T |
NP_000089.1:p.Arg193Cys |
6/11422 | 0.00026 | 3 | Uncertain Significance | |

View | 1 | 53676371 | 53676371 | T > C | TRNAN-GUU CPT2 |
NM_000098.2:c.1025T>C |
NP_000089.1:p.Met342Thr |
19/11422 | 0.00083 | 3 | Uncertain Significance | |

View | 1 | 62941720 | 62941720 | T > C | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.5604+18A>G NM_001271999.1:c.5691+18A>G NM_033407.3:c.5631+18A>G NM_001272001.1:c.5598+18A>G |
3/9555 | 0.00016 | 3 | five_prime_intronic | Uncertain Significance | |

View | 1 | 62962089 | 62962089 | A > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.4724T>A NM_001271999.1:c.4817T>A NM_033407.3:c.4751T>A NM_001272001.1:c.4724T>A |
NP_001258929.1:p.Phe1575Tyr NP_001258928.1:p.Phe1606Tyr NP_212132.2:p.Phe1584Tyr NP_001258930.1:p.Phe1575Tyr |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 63018557 | 63018557 | C > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.2612G>A NM_001271999.1:c.2612G>A NM_033407.3:c.2612G>A NM_001272001.1:c.2612G>A |
NP_001258929.1:p.Gly871Glu NP_001258928.1:p.Gly871Glu NP_212132.2:p.Gly871Glu NP_001258930.1:p.Gly871Glu |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 63024812 | 63024812 | C > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.2279G>A NM_001271999.1:c.2279G>A NM_033407.3:c.2279G>A NM_001272001.1:c.2279G>A |
NP_001258929.1:p.Arg760Gln NP_001258928.1:p.Arg760Gln NP_212132.2:p.Arg760Gln NP_001258930.1:p.Arg760Gln |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 91403435 | 91403435 | G > A | TRNAN-GUU ZNF644 ZNF644 ZNF644 |
NM_032186.4:c.23-19724C>T NM_016620.3:c.23-19724C>T NM_201269.2:c.3295C>T |
NP_958357.1:p.Arg1099Cys |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 100340312 | 100340312 | G > A | AGL AGL TRNAN-GUU AGL AGL AGL AGL |
NM_000642.2:c.1028G>A NM_000643.2:c.1028G>A NM_000644.2:c.1028G>A NM_000645.2:c.977G>A NM_000646.2:c.980G>A NM_000028.2:c.1028G>A |
NP_000633.2:p.Arg343Gln NP_000634.2:p.Arg343Gln NP_000635.2:p.Arg343Gln NP_000636.2:p.Arg326Gln NP_000637.2:p.Arg327Gln NP_000019.2:p.Arg343Gln |
11/11422 | 0.00048 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 100573386 | 100573386 | C > A | TRNAN-GUU SASS6 |
NM_194292.1:c.1036G>T |
NP_919268.1:p.Asp346Tyr |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 103449602 | 103449602 | A > T | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_080629.2:c.2592+92T>A NM_001854.3:c.2556+92T>A NM_001190709.1:c.2439+92T>A NM_080630.3:c.2208+92T>A |
39/9555 | 0.00209 | 3 | Uncertain Significance | ||

View | 1 | 109777998 | 109777998 | T > A | TRNAN-GUU SARS |
NM_006513.3:c.914T>A |
NP_006504.2:p.Val305Glu |
4/9594 | 0.00021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 110170697 | 110170697 | C > A | AMPD2 TRNAN-GUU AMPD2 AMPD2 AMPD2 AMPD2 |
NM_139156.3:c.1000-8C>A NM_001257360.1:c.1243-8C>A NM_203404.1:c.886-8C>A NM_001257361.1:c.889-8C>A NM_004037.7:c.1243-8C>A |
3/9594 | 0.00016 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | 1 | 110171120 | 110171120 | A > G | AMPD2 TRNAN-GUU AMPD2 AMPD2 AMPD2 AMPD2 |
NM_139156.3:c.1326+3A>G NM_001257360.1:c.1569+3A>G NM_203404.1:c.1212+3A>G NM_001257361.1:c.1215+3A>G NM_004037.7:c.1569+3A>G |
61/9594 | 0.00323 | 3 | five_prime_flank | Uncertain Significance | |

View | 1 | 115218640 | 115218640 | A > T | TRNAN-GUU AMPD1 AMPD1 |
NM_000036.2:c.1488-16T>A NM_001172626.1:c.1476-16T>A |
1/9555 | 5.0e-05 | 3 | three_prime_flank | Uncertain Significance | |

View | 1 | 115221116 | 115221116 | C > A | TRNAN-GUU AMPD1 AMPD1 |
NM_000036.2:c.1029G>T NM_001172626.1:c.1017G>T |
NP_000027.2:p.Met343Ile NP_001166097.1:p.Met339Ile |
67/9594 | 0.00354 | 3 | Uncertain Significance | |

View | 1 | 115251248 | 115251248 | C > T | TRNAN-GUU NRAS |
NM_002524.4:c.478G>A |
NP_002515.1:p.Val160Ile |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 115252272 | 115252272 | C > T | TRNAN-GUU NRAS |
NM_002524.4:c.368G>A |
NP_002515.1:p.Arg123Lys |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 116206325 | 116206325 | C > T | TRNAN-GUU VANGL1 VANGL1 VANGL1 |
NM_001172412.1:c.248C>T NM_001172411.1:c.242C>T NM_138959.2:c.248C>T |
NP_001165883.1:p.Ser83Leu NP_001165882.1:p.Ser81Leu NP_620409.1:p.Ser83Leu |
3/9594 | 0.00016 | 3 | Uncertain Significance | |

View | 1 | 120468261 | 120468261 | C > T | TRNAN-GUU NOTCH2 |
NM_024408.3:c.4178G>A |
NP_077719.2:p.Arg1393His |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 150484179 | 150484179 | C > T | ECM1 ECM1 ECM1 |
NM_001202858.1:c.1036C>T NM_004425.3:c.955C>T NM_022664.2:c.708+505C>T |
NP_001189787.1:p.Arg346Cys NP_004416.2:p.Arg319Cys |
2/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 154558776 | 154558776 | C > G | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.2990G>C NM_001025107.2:c.2198G>C ENST00000368474.4:c.3083G>C NM_001193495.1:c.2198G>C |
ENSP00000431794.1:p.Gly997Ala NP_001020278.1:p.Gly733Ala ENSP00000357459.4:p.Gly1028Ala NP_001180424.1:p.Gly733Ala |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 154573889 | 154573889 | T > C | ADAR ADAR ADAR ADAR |
ENST00000529168.1:c.1214A>G NM_001025107.2:c.344A>G ENST00000368474.4:c.1229A>G NM_001193495.1:c.344A>G |
ENSP00000431794.1:p.Glu405Gly NP_001020278.1:p.Glu115Gly ENSP00000357459.4:p.Glu410Gly NP_001180424.1:p.Glu115Gly |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 155261649 | 155261649 | C > T | PKLR PKLR |
NM_181871.3:c.1423G>A NM_000298.5:c.1516G>A |
NP_870986.1:p.Val475Ile NP_000289.1:p.Val506Ile |
136/11422 | 0.00595 | 3 | Uncertain Significance | |

View | 1 | 155450311 | 155450311 | T > C | ASH1L |
NM_018489.2:c.2350A>G |
NP_060959.2:p.Lys784Glu |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 156108453 | 156108453 | A > C | LMNA LMNA LMNA |
NM_001257374.1:c.1537A>C NM_170707.3:c.1873A>C NM_170708.3:c.1783A>C |
NP_001244303.1:p.Ser513Arg NP_733821.1:p.Ser625Arg NP_733822.1:p.Ser595Arg |
2/10293 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 156108454 | 156108454 | G > C | LMNA LMNA LMNA |
NM_001257374.1:c.1538G>C NM_170707.3:c.1874G>C NM_170708.3:c.1784G>C |
NP_001244303.1:p.Ser513Thr NP_733821.1:p.Ser625Thr NP_733822.1:p.Ser595Thr |
2/10293 | 0.0001 | 1 | Uncertain Significance | |

View | 1 | 161179934 | 161179934 | C > A | NDUFS2 NDUFS2 |
NM_001166159.1:c.736C>A NM_004550.4:c.736C>A |
NP_001159631.1:p.Gln246Lys NP_004541.1:p.Gln246Lys |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 162724611 | 162724611 | G > A | DDR2 DDR2 |
NM_001014796.1:c.383G>A NM_006182.2:c.383G>A |
NP_001014796.1:p.Arg128His NP_006173.2:p.Arg128His |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 165737912 | 165737912 | C > T | TMCO1 TMCO1 TMCO1 TMCO1 |
NM_019026.4:c.223+7G>A NM_001256165.1:c.-160G>A NM_001256164.1:c.146+84G>A NR_045818.1:n.164+84G>A |
1/9594 | 5.0e-05 | 3 | five_prime_intronic | Uncertain Significance | |

View | 1 | 182354983 | 182354983 | C > G | GLUL GLUL GLUL |
NM_001033056.2:c.515G>C NM_001033044.2:c.515G>C NM_002065.5:c.515G>C |
NP_001028228.1:p.Gly172Ala NP_001028216.1:p.Gly172Ala NP_002056.2:p.Gly172Ala |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 197071299 | 197071299 | G > C | ASPM ASPM |
NM_001206846.1:c.4066-6005C>G NM_018136.4:c.7082C>G |
NP_060606.3:p.Ser2361Cys |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 197071867 | 197071867 | C > T | ASPM ASPM |
NM_001206846.1:c.4066-6573G>A NM_018136.4:c.6514G>A |
NP_060606.3:p.Val2172Ile |
4/9594 | 0.00021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 197098435 | 197098435 | G > A | ASPM ASPM |
NM_001206846.1:c.2642C>T NM_018136.4:c.2642C>T |
NP_001193775.1:p.Ala881Val NP_060606.3:p.Ala881Val |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 197298095 | 197298095 | T > C | CRB1 CRB1 CRB1 CRB1 CRB1 CRB1 |
ENST00000367400.3:c.614T>C ENST00000538660.1:c.614T>C ENST00000535699.1:c.407T>C NR_047563.1:n.823T>C ENST00000367399.2:c.614T>C NR_047564.1:n.823T>C |
ENSP00000356370.3:p.Ile205Thr ENSP00000438091.1:p.Ile205Thr ENSP00000438786.1:p.Ile136Thr ENSP00000356369.2:p.Ile205Thr |
18/9594 | 0.00094 | 3 | Uncertain Significance | |

View | 1 | 201328373 | 201328373 | G > A | TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 |
NM_001276345.1:c.862C>T NM_000364.3:c.853C>T NM_001001431.2:c.823C>T NM_001001432.2:c.814C>T NM_001001430.2:c.832C>T NM_001276347.1:c.832C>T NM_001276346.1:c.733C>T |
NP_001263274.1:p.Arg288Cys NP_000355.2:p.Arg285Cys NP_001001431.1:p.Arg275Cys NP_001001432.1:p.Arg272Cys NP_001001430.1:p.Arg278Cys NP_001263276.1:p.Arg278Cys NP_001263275.1:p.Arg245Cys |
12/9594 | 0.00063 | 3 | Uncertain Significance | |

View | 1 | 201334772 | 201334772 | G > A | TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 |
NM_001276345.1:c.260C>T NM_000364.3:c.260C>T NM_001001431.2:c.230C>T NM_001001432.2:c.215C>T NM_001001430.2:c.230C>T NM_001276347.1:c.230C>T NM_001276346.1:c.257C>T |
NP_001263274.1:p.Pro87Leu NP_000355.2:p.Pro87Leu NP_001001431.1:p.Pro77Leu NP_001001432.1:p.Pro72Leu NP_001001430.1:p.Pro77Leu NP_001263276.1:p.Pro77Leu NP_001263275.1:p.Pro86Leu |
5/9594 | 0.00026 | 3 | Uncertain Significance | |

View | 1 | 205028229 | 205028229 | C > T | CNTN2 |
NM_005076.3:c.505C>T |
NP_005067.1:p.Leu169Phe |
67/9594 | 0.00349 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 205033819 | 205033819 | C > T | CNTN2 |
NM_005076.3:c.1460C>T |
NP_005067.1:p.Thr487Ile |
16/9594 | 0.00083 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 211654499 | 211654499 | T > C | RD3 RD3 |
NM_001164688.1:c.259A>G NM_183059.2:c.259A>G |
NP_001158160.1:p.Lys87Glu NP_898882.1:p.Lys87Glu |
13/9594 | 0.00068 | 3 | Uncertain Significance | |

View | 1 | 214820265 | 214820265 | A > G | CENPF |
NM_016343.3:c.7352A>G |
NP_057427.3:p.Asn2451Ser |
4/9555 | 0.00021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 216246591 | 216246591 | T > C | USH2A |
ENST00000307340.3:c.5624A>G |
ENSP00000305941.3:p.Asn1875Ser |
9/11422 | 0.00039 | 3 | Uncertain Significance | |

View | 1 | 220279317 | 220279317 | T > C | IARS2 |
NM_018060.3:c.1151T>C |
NP_060530.3:p.Met384Thr |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220355619 | 220355619 | G > A | RAB3GAP2 |
NM_012414.3:c.2290C>T |
NP_036546.2:p.Leu764Phe |
26/11422 | 0.00114 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 227170644 | 227170644 | A > G | COQ8A |
NM_020247.4:c.989A>G |
NP_064632.2:p.Tyr330Cys |
7/11422 | 0.00031 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346015 | 228346015 | G > T | GJC2 |
NM_020435.3:c.556G>T |
NP_065168.2:p.Gly186Cys |
23/11422 | 0.00101 | 3 | Uncertain Significance | |

View | 1 | 228346406 | 228346406 | C > T | GJC2 |
NM_020435.3:c.947C>T |
NP_065168.2:p.Pro316Leu |
22/11422 | 0.00105 | 3 | Uncertain Significance | |

View | 1 | 228346429 | 228346429 | G > A | GJC2 |
NM_020435.3:c.970G>A |
NP_065168.2:p.Ala324Thr |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346693 | 228346693 | C > T | GJC2 |
NM_020435.3:c.1234C>T |
NP_065168.2:p.His412Tyr |
27/11422 | 0.00118 | 3 | Uncertain Significance | |

View | 1 | 235577815 | 235577815 | A > G | TBCE TBCE |
NM_001079515.1:c.253A>G NM_003193.3:c.253A>G |
NP_001072983.1:p.Ile85Val NP_003184.1:p.Ile85Val |
5/11422 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 235597606 | 235597606 | C > T | TBCE TBCE |
NM_001079515.1:c.737+11C>T NM_003193.3:c.737+11C>T |
6/11383 | 0.00026 | 3 | five_prime_intronic | Uncertain Significance |