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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 | 955596 | 955596 | C > G | AGRN |
NM_198576.3:c.44C>G |
NP_940978.2:p.Pro15Arg |
5/5119 | 0.00049 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 981353 | 981353 | C > T | AGRN |
NM_198576.3:c.2690C>T |
NP_940978.2:p.Ala897Val |
22/5119 | 0.00215 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1960633 | 1960633 | G > A | GABRD |
NM_000815.4:c.775G>A |
NP_000806.2:p.Val259Ile |
6/5119 | 0.00059 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 2235762 | 2235762 | C > T | SKI |
NM_003036.3:c.1505C>T |
NP_003027.1:p.Pro502Leu |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 3301830 | 3301830 | A > G | PRDM16 PRDM16 |
NM_022114.3:c.553A>G NM_199454.2:c.553A>G |
NP_071397.3:p.Met185Val NP_955533.2:p.Met185Val |
5/5119 | 0.00049 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 6529605 | 6529605 | A > G | PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 |
NM_001265593.1:c.2139T>C NM_001265592.1:c.2169T>C NM_001042665.1:c.1932T>C NM_001042664.1:c.1932T>C NM_020631.4:c.1932T>C NM_198681.3:c.2163T>C NM_001042663.1:c.2100T>C NM_001265594.1:c.1932T>C |
NM_001265593.1:c.2139T>C(p.=) NM_001265592.1:c.2169T>C(p.=) NM_001042665.1:c.1932T>C(p.=) NM_001042664.1:c.1932T>C(p.=) NM_020631.4:c.1932T>C(p.=) NM_198681.3:c.2163T>C(p.=) NM_001042663.1:c.2100T>C(p.=) NM_001265594.1:c.1932T>C(p.=) |
7/6913 | 0.00051 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 20964534 | 20964534 | C > T | TRNAN-GUU PINK1 |
NM_032409.2:c.587C>T |
NP_115785.1:p.Pro196Leu |
7/5119 | 0.00068 | 3 | Uncertain Significance | |

View | 1 | 20981934 | 20981934 | C > T | TRNAN-GUU DDOST |
ENST00000415136.2:c.490G>A |
ENSP00000399457.2:p.Gly164Arg |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 22181472 | 22181472 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.6002G>A |
NP_005520.4:p.Arg2001Gln |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27120874 | 27120874 | A > G | TRNAN-GUU PIGV PIGV |
NM_017837.3:c.349A>G NM_001202554.1:c.349A>G |
NP_060307.2:p.Ile117Val NP_001189483.1:p.Ile117Val |
15/5119 | 0.00147 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27930145 | 27930145 | T > C | TRNAN-GUU | 1/2659 | 0.00019 | 4 | intronic | Uncertain Significance | ||

View | 1 | 38006125 | 38006125 | G > A | TRNAN-GUU SNIP1 |
NM_024700.3:c.559C>T |
NP_078976.2:p.Arg187Trp |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40539750 | 40539750 | T > C | TRNAN-GUU PPT1 PPT1 |
NM_000310.3:c.904A>G NM_001142604.1:c.595A>G |
NP_000301.1:p.Ile302Val NP_001136076.1:p.Ile199Val |
15/6913 | 0.00108 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40770513 | 40770513 | G > A | TRNAN-GUU COL9A2 |
NM_001852.3:c.1114C>T |
NP_001843.1:p.Pro372Ser |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40777800 | 40777800 | T > C | TRNAN-GUU COL9A2 |
NM_001852.3:c.364-16A>G |
4/5101 | 0.00039 | 3 | three_prime_flank | Uncertain Significance | |

View | 1 | 40782845 | 40782845 | G > C | TRNAN-GUU COL9A2 |
NM_001852.3:c.25C>G |
NP_001843.1:p.Arg9Gly |
1/5119 | 0.0001 | 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 |
1/5110 | 0.0001 | 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 |
2/5119 | 0.0002 | 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_174963.3:c.931A>G NM_001270462.1:c.583A>G NR_073017.1:n.824A>G NM_001270460.1:c.631A>G NM_001270463.1:c.554+444A>G NR_073019.1:n.763A>G NM_001270459.1:c.724A>G NR_073020.1:n.700+444A>G NM_001270465.1:c.*22+418A>G NM_001270466.1:c.255-30425A>G NM_174968.3:c.886A>G NR_073018.1:n.1088A>G NM_001270461.1:c.676A>G NM_174965.2:c.442+5230A>G NM_174969.2:c.676A>G NM_174970.2:c.349+5230A>G NM_174967.2:c.397+5230A>G NM_006279.3:c.724A>G NR_073016.1:n.947A>G NR_073021.1:n.922+444A>G NM_174966.2:c.724A>G NR_073023.1:n.588+5230A>G NM_001270464.1:c.509+444A>G NM_174971.3:c.838A>G NM_174964.2:c.769A>G |
NP_777623.2:p.Ile311Val NP_001257391.1:p.Ile195Val NP_001257389.1:p.Ile211Val NP_001257388.1:p.Ile242Val NP_777628.2:p.Ile296Val NP_001257390.1:p.Ile226Val NP_777629.1:p.Ile226Val NP_006270.1:p.Ile242Val NP_777626.1:p.Ile242Val NP_777631.2:p.Ile280Val NP_777624.1:p.Ile257Val |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 45292607 | 45292607 | C > T | PTCH2 TRNAN-GUU PTCH2 |
NM_001166292.1:c.2662G>A NM_003738.4:c.2662G>A |
NP_001159764.1:p.Asp888Asn NP_003729.3:p.Asp888Asn |
4/5119 | 0.00039 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 45974002 | 45974002 | G > A | TRNAN-GUU MMACHC |
NM_015506.2:c.395G>A |
NP_056321.2:p.Arg132Gln |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 47746352 | 47746352 | G > C | TRNAN-GUU STIL STIL |
NM_001048166.1:c.1778C>G NM_003035.2:c.1778C>G |
NP_001041631.1:p.Pro593Arg NP_003026.2:p.Pro593Arg |
4/5119 | 0.00039 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 52849092 | 52849092 | C > G | TRNAN-GUU ORC1 ORC1 ORC1 |
NM_004153.3:c.2013G>C NM_001190818.1:c.2013G>C NM_001190819.1:c.1998G>C |
NM_004153.3:c.2013G>C(p.=) NM_001190818.1:c.2013G>C(p.=) NM_001190819.1:c.1998G>C(p.=) |
3/5119 | 0.00029 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 53675699 | 53675699 | A > G | TRNAN-GUU CPT2 |
NM_000098.2:c.353A>G |
NP_000089.1:p.Asp118Gly |
24/6913 | 0.00174 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 53676371 | 53676371 | T > C | TRNAN-GUU CPT2 |
NM_000098.2:c.1025T>C |
NP_000089.1:p.Met342Thr |
12/6913 | 0.00087 | 3 | Uncertain Significance | |

View | 1 | 62941720 | 62941720 | T > C | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_033407.3:c.5631+18A>G NM_001272000.1:c.5604+18A>G NM_001271999.1:c.5691+18A>G NM_001272001.1:c.5598+18A>G |
3/5101 | 0.00029 | 3 | five_prime_intronic | Uncertain Significance | |

View | 1 | 62962089 | 62962089 | A > T | DOCK7 TRNAN-GUU DOCK7 DOCK7 DOCK7 |
NM_033407.3:c.4751T>A NM_001272000.1:c.4724T>A NM_001271999.1:c.4817T>A NM_001272001.1:c.4724T>A |
NP_212132.2:p.Phe1584Tyr NP_001258929.1:p.Phe1575Tyr NP_001258928.1:p.Phe1606Tyr NP_001258930.1:p.Phe1575Tyr |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 63024812 | 63024812 | C > T | TRNAN-GUU DOCK7 DOCK7 DOCK7 DOCK7 |
NM_033407.3:c.2279G>A NM_001272000.1:c.2279G>A NM_001271999.1:c.2279G>A NM_001272001.1:c.2279G>A |
NP_212132.2:p.Arg760Gln NP_001258929.1:p.Arg760Gln NP_001258928.1:p.Arg760Gln NP_001258930.1:p.Arg760Gln |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 91403435 | 91403435 | G > A | TRNAN-GUU ZNF644 ZNF644 ZNF644 |
NM_016620.3:c.23-19724C>T NM_201269.2:c.3295C>T NM_032186.4:c.23-19724C>T |
NP_958357.1:p.Arg1099Cys |
3/5119 | 0.00029 | 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 |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 103449602 | 103449602 | A > T | COL11A1 TRNAN-GUU COL11A1 COL11A1 COL11A1 |
NM_001190709.1:c.2439+92T>A NM_080629.2:c.2592+92T>A NM_080630.3:c.2208+92T>A NM_001854.3:c.2556+92T>A |
20/5101 | 0.00206 | 3 | Uncertain Significance | ||

View | 1 | 110170697 | 110170697 | C > A | AMPD2 AMPD2 AMPD2 AMPD2 TRNAN-GUU AMPD2 |
NM_139156.3:c.1000-8C>A NM_001257360.1:c.1243-8C>A NM_004037.7:c.1243-8C>A NM_001257361.1:c.889-8C>A NM_203404.1:c.886-8C>A |
2/5119 | 0.0002 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | 1 | 110171120 | 110171120 | A > G | AMPD2 AMPD2 AMPD2 TRNAN-GUU AMPD2 AMPD2 |
NM_004037.7:c.1569+3A>G NM_139156.3:c.1326+3A>G NM_203404.1:c.1212+3A>G NM_001257360.1:c.1569+3A>G NM_001257361.1:c.1215+3A>G |
35/5119 | 0.00352 | 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 |
1/5101 | 0.0001 | 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 |
42/5119 | 0.0042 | 3 | Uncertain Significance | |

View | 1 | 120468261 | 120468261 | C > T | TRNAN-GUU NOTCH2 |
NM_024408.3:c.4178G>A |
NP_077719.2:p.Arg1393His |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 154573889 | 154573889 | T > C | ADAR ADAR ADAR ADAR |
NM_001025107.2:c.344A>G ENST00000529168.1:c.1214A>G ENST00000368474.4:c.1229A>G NM_001193495.1:c.344A>G |
NP_001020278.1:p.Glu115Gly ENSP00000431794.1:p.Glu405Gly ENSP00000357459.4:p.Glu410Gly NP_001180424.1:p.Glu115Gly |
2/5119 | 0.0002 | 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 |
83/6913 | 0.006 | 3 | Uncertain Significance | |

View | 1 | 156108453 | 156108453 | A > C | LMNA LMNA LMNA |
NM_170708.3:c.1783A>C NM_170707.3:c.1873A>C NM_001257374.1:c.1537A>C |
NP_733822.1:p.Ser595Arg NP_733821.1:p.Ser625Arg NP_001244303.1:p.Ser513Arg |
2/5771 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 156108454 | 156108454 | G > C | LMNA LMNA LMNA |
NM_170708.3:c.1784G>C NM_170707.3:c.1874G>C NM_001257374.1:c.1538G>C |
NP_733822.1:p.Ser595Thr NP_733821.1:p.Ser625Thr NP_001244303.1:p.Ser513Thr |
2/5771 | 0.00017 | 3 | non_synonymous | 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 |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 162724611 | 162724611 | G > A | DDR2 DDR2 |
NM_006182.2:c.383G>A NM_001014796.1:c.383G>A |
NP_006173.2:p.Arg128His NP_001014796.1:p.Arg128His |
1/5119 | 0.0001 | 3 | non_synonymous | 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 |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 201328373 | 201328373 | G > A | TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 TNNT2 |
NM_001001431.2:c.823C>T NM_001001430.2:c.832C>T NM_000364.3:c.853C>T NM_001276345.1:c.862C>T NM_001276346.1:c.733C>T NM_001276347.1:c.832C>T NM_001001432.2:c.814C>T |
NP_001001431.1:p.Arg275Cys NP_001001430.1:p.Arg278Cys NP_000355.2:p.Arg285Cys NP_001263274.1:p.Arg288Cys NP_001263275.1:p.Arg245Cys NP_001263276.1:p.Arg278Cys NP_001001432.1:p.Arg272Cys |
10/5119 | 0.00098 | 3 | Uncertain Significance | |

View | 1 | 202722108 | 202722109 | AA > - | KDM5B |
NM_006618.3:c.1625_1626del |
NP_006609.3:p.Phe542CysfsTer23 |
1/5119 | 0.0001 | 2 | frameshift | Uncertain Significance |

View | 1 | 205028229 | 205028229 | C > T | CNTN2 |
NM_005076.3:c.505C>T |
NP_005067.1:p.Leu169Phe |
41/5119 | 0.004 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 211654499 | 211654499 | T > C | RD3 RD3 |
NM_183059.2:c.259A>G NM_001164688.1:c.259A>G |
NP_898882.1:p.Lys87Glu NP_001158160.1:p.Lys87Glu |
12/5119 | 0.00117 | 3 | Uncertain Significance | |

View | 1 | 214820265 | 214820265 | A > G | CENPF |
NM_016343.3:c.7352A>G |
NP_057427.3:p.Asn2451Ser |
4/5101 | 0.00039 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220279317 | 220279317 | T > C | IARS2 |
NM_018060.3:c.1151T>C |
NP_060530.3:p.Met384Thr |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220355619 | 220355619 | G > A | RAB3GAP2 |
NM_012414.3:c.2290C>T |
NP_036546.2:p.Leu764Phe |
19/6913 | 0.00137 | 3 | non_synonymous | Uncertain Significance |