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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 | 40770513 | 40770513 | G > A | COL9A2 TRNAN-GUU |
NM_001852.3:c.1114C>T |
NP_001843.1:p.Pro372Ser |
6/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40777800 | 40777800 | T > C | COL9A2 TRNAN-GUU |
NM_001852.3:c.364-16A>G |
15/11945 | 0.00063 | 3 | three_prime_flank | Uncertain Significance | |

View | 1 | 40782845 | 40782845 | G > C | COL9A2 TRNAN-GUU |
NM_001852.3:c.25C>G |
NP_001843.1:p.Arg9Gly |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43880870 | 43880870 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.616G>A |
NP_056099.3:p.Asp206Asn |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43896304 | 43896304 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.4447G>A |
NP_056099.3:p.Asp1483Asn |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43896743 | 43896743 | C > T | TRNAN-GUU SZT2 |
NM_015284.3:c.4727C>T |
NP_056099.3:p.Ser1576Leu |
76/13144 | 0.00293 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43914007 | 43914007 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.9650G>A |
NP_056099.3:p.Arg3217His |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 44365379 | 44365379 | A > G | ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 TRNAN-GUU ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 |
NM_001270461.1:c.676A>G NM_001270462.1:c.583A>G NM_174968.3:c.886A>G NM_174969.2:c.676A>G NM_001270463.1:c.554+444A>G NM_001270464.1:c.509+444A>G NM_174967.2:c.397+5230A>G NM_001270465.1:c.*22+418A>G NM_001270466.1:c.255-30425A>G NR_073020.1:n.700+444A>G NR_073021.1:n.922+444A>G NM_001270460.1:c.631A>G NR_073023.1:n.588+5230A>G NM_001270459.1:c.724A>G NM_174966.2:c.724A>G NM_174965.2:c.442+5230A>G NM_174963.3:c.931A>G NM_174964.2:c.769A>G NR_073019.1:n.763A>G NR_073018.1:n.1088A>G NR_073017.1:n.824A>G NR_073016.1:n.947A>G NM_006279.3:c.724A>G NM_174971.3:c.838A>G NM_174970.2:c.349+5230A>G |
NP_001257390.1:p.Ile226Val NP_001257391.1:p.Ile195Val NP_777628.2:p.Ile296Val NP_777629.1:p.Ile226Val NP_001257389.1:p.Ile211Val NP_001257388.1:p.Ile242Val NP_777626.1:p.Ile242Val NP_777623.2:p.Ile311Val NP_777624.1:p.Ile257Val NP_006270.1:p.Ile242Val NP_777631.2:p.Ile280Val |
3/14969 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 44463309 | 44463309 | C > T | TRNAN-GUU SLC6A9 SLC6A9 SLC6A9 SLC6A9 SLC6A9 SLC6A9 |
NM_201649.3:c.2029G>A NM_006934.3:c.1867G>A NM_001261380.1:c.1822G>A NR_048548.1:n.2070G>A NR_048549.1:n.1793G>A NM_001024845.2:c.1810G>A |
NP_964012.2:p.Gly677Ser NP_008865.2:p.Gly623Ser NP_001248309.1:p.Gly608Ser NP_001020016.1:p.Gly604Ser |
28/13144 | 0.00107 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 45292607 | 45292607 | C > T | TRNAN-GUU PTCH2 PTCH2 |
NM_003738.4:c.2662G>A NM_001166292.1:c.2662G>A |
NP_003729.3:p.Asp888Asn NP_001159764.1:p.Asp888Asn |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 45297377 | 45297377 | C > T | TRNAN-GUU PTCH2 PTCH2 |
NM_003738.4:c.617+1G>A NM_001166292.1:c.617+1G>A |
3/11983 | 0.00013 | 2 | donor_site | Uncertain Significance | |

View | 1 | 45407225 | 45407225 | T > G | EIF2B3 TRNAN-GUU EIF2B3 EIF2B3 |
NM_020365.4:c.407A>C NM_001166588.2:c.407A>C NM_001261418.1:c.407A>C |
NP_065098.1:p.Gln136Pro NP_001160060.1:p.Gln136Pro NP_001248347.1:p.Gln136Pro |
3/13144 | 0.00011 | 3 | curation | Uncertain Significance |

View | 1 | 45974002 | 45974002 | G > A | TRNAN-GUU MMACHC |
NM_015506.2:c.395G>A |
NP_056321.2:p.Arg132Gln |
8/14969 | 0.00027 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 46660510 | 46660510 | C > T | TRNAN-GUU POMGNT1 POMGNT1 |
ENST00000371992.1:c.652+6G>A ENST00000371984.3:c.652+6G>A |
7/13810 | 0.00025 | 3 | five_prime_flank | Uncertain Significance | |

View | 1 | 47746237 | 47746237 | A > C | STIL TRNAN-GUU STIL |
NM_001048166.1:c.1893T>G NM_003035.2:c.1893T>G |
NP_001041631.1:p.Asp631Glu NP_003026.2:p.Asp631Glu |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 47746352 | 47746352 | G > C | STIL TRNAN-GUU STIL |
NM_001048166.1:c.1778C>G NM_003035.2:c.1778C>G |
NP_001041631.1:p.Pro593Arg NP_003026.2:p.Pro593Arg |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 52849092 | 52849092 | C > G | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.2013G>C NM_004153.3:c.2013G>C NM_001190819.1:c.1998G>C |
NP_001177747.1:p.Leu671= NP_004144.2:p.Leu671= NP_001177748.1:p.Leu666= |
3/13144 | 0.00011 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 52850256 | 52850256 | G > A | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.1721C>T NM_004153.3:c.1721C>T NM_001190819.1:c.1706C>T |
NP_001177747.1:p.Thr574Met NP_004144.2:p.Thr574Met NP_001177748.1:p.Thr569Met |
7/13144 | 0.00027 | 3 | curation | Uncertain Significance |

View | 1 | 53446095 | 53446096 | - > C | TRNAN-GUU SCP2 SCP2 SCP2 SCP2 SCP2 |
NM_002979.4:c.854dupC NM_001193600.1:c.722dupC NM_001007098.2:c.722dupC NM_001193617.1:c.611dupC NM_001193599.1:c.782dupC |
NP_002970.2:p.Arg286LysfsTer5 NP_001180529.1:p.Arg242LysfsTer5 NP_001007099.1:p.Arg242LysfsTer5 NP_001180546.1:p.Arg205LysfsTer5 NP_001180528.1:p.Arg262LysfsTer5 |
3/13144 | 0.00011 | 3 | curation | Uncertain Significance |

View | 1 | 53675699 | 53675699 | A > G | TRNAN-GUU CPT2 |
NM_000098.2:c.353A>G |
NP_000089.1:p.Asp118Gly |
48/14969 | 0.0016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 53675923 | 53675923 | C > T | TRNAN-GUU CPT2 |
NM_000098.2:c.577C>T |
NP_000089.1:p.Arg193Cys |
5/14969 | 0.00017 | 3 | curation | Uncertain Significance |

View | 1 | 53676371 | 53676371 | T > C | TRNAN-GUU CPT2 |
NM_000098.2:c.1025T>C |
NP_000089.1:p.Met342Thr |
21/14969 | 0.0007 | 3 | curation | 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 |
4/11944 | 0.00017 | 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 |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 62971474 | 62971474 | G > A | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.4370C>T NM_001271999.1:c.4463C>T NM_033407.3:c.4397C>T NM_001272001.1:c.4370C>T |
NP_001258929.1:p.Thr1457Met NP_001258928.1:p.Thr1488Met NP_212132.2:p.Thr1466Met NP_001258930.1:p.Thr1457Met |
4/13144 | 0.00015 | 3 | Uncertain Significance | |

View | 1 | 62979150 | 62979150 | C > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.4154G>A NM_001271999.1:c.4247G>A NM_033407.3:c.4154G>A NM_001272001.1:c.4154G>A |
NP_001258929.1:p.Gly1385Glu NP_001258928.1:p.Gly1416Glu NP_212132.2:p.Gly1385Glu NP_001258930.1:p.Gly1385Glu |
2/13144 | 8.0e-05 | 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 |
7/13144 | 0.00027 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 63021514 | 63021514 | G > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_001272000.1:c.2578C>A NM_001271999.1:c.2578C>A NM_033407.3:c.2578C>A NM_001272001.1:c.2578C>A |
NP_001258929.1:p.Pro860Thr NP_001258928.1:p.Pro860Thr NP_212132.2:p.Pro860Thr NP_001258930.1:p.Pro860Thr |
5/13144 | 0.00019 | 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 |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 70505111 | 70505111 | C > T | TRNAN-GUU LRRC7 |
NM_020794.2:c.3490C>T |
NP_065845.1:p.Gln1164Ter |
1/13105 | 4.0e-05 | 2 | premature_stop | Uncertain Significance |

View | 1 | 78395146 | 78395146 | T > C | TRNAN-GUU NEXN NEXN |
NM_001172309.1:c.818T>C NM_144573.3:c.1010T>C |
NP_001165780.1:p.Ile273Thr NP_653174.3:p.Ile337Thr |
4/13144 | 0.00015 | 3 | 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 |
3/13144 | 0.00011 | 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 |
11/14969 | 0.00037 | 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 |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 103377731 | 103377731 | C > A | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_080629.2:c.4106G>T NM_001854.3:c.4070G>T NM_001190709.1:c.3953G>T NM_080630.3:c.3722G>T |
NP_542196.2:p.Gly1369Val NP_001845.3:p.Gly1357Val NP_001177638.1:p.Gly1318Val NP_542197.3:p.Gly1241Val |
2/13144 | 8.0e-05 | 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 |
63/11950 | 0.00268 | 3 | curation | Uncertain Significance | |

View | 1 | 104084048 | 104084048 | A > C | TRNAN-GUU RNPC3 |
NM_017619.3:c.844A>C |
NP_060089.1:p.Lys282Gln |
2/13105 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 109771046 | 109771046 | G > A | TRNAN-GUU SARS |
NM_006513.3:c.280G>A |
NP_006504.2:p.Ala94Thr |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 109777998 | 109777998 | T > A | TRNAN-GUU SARS |
NM_006513.3:c.914T>A |
NP_006504.2:p.Val305Glu |
4/13144 | 0.00015 | 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 |
3/11983 | 0.00013 | 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 |
90/11990 | 0.00379 | 3 | five_prime_flank | Uncertain Significance | |

View | 1 | 110171391 | 110171391 | C > T | AMPD2 TRNAN-GUU AMPD2 AMPD2 AMPD2 AMPD2 |
NM_139156.3:c.1453C>T NM_001257360.1:c.1696C>T NM_203404.1:c.1339C>T NM_001257361.1:c.1342C>T NM_004037.7:c.1696C>T |
NP_631895.1:p.Pro485Ser NP_001244289.1:p.Pro566Ser NP_981949.1:p.Pro447Ser NP_001244290.1:p.Pro448Ser NP_004028.3:p.Pro566Ser |
2/13144 | 8.0e-05 | 3 | non_synonymous | 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 |
1/11944 | 4.0e-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 |
91/13144 | 0.0035 | 3 | curation | Uncertain Significance |

View | 1 | 115251248 | 115251248 | C > T | TRNAN-GUU NRAS |
NM_002524.4:c.478G>A |
NP_002515.1:p.Val160Ile |
1/13144 | 4.0e-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 |
2/13144 | 8.0e-05 | 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 |
4/13144 | 0.00015 | 3 | curation | Uncertain Significance |

View | 1 | 120468261 | 120468261 | C > T | TRNAN-GUU NOTCH2 |
NM_024408.3:c.4178G>A |
NP_077719.2:p.Arg1393His |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 145508977 | 145508977 | A > G | RBM8A |
NM_005105.4:c.404A>G |
NP_005096.1:p.Asn135Ser |
6/13144 | 0.00023 | 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 |
2/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |