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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 |
5/6955 | 0.00036 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 981353 | 981353 | C > T | AGRN |
NM_198576.3:c.2690C>T |
NP_940978.2:p.Ala897Val |
38/6955 | 0.00273 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1271833 | 1271833 | G > A | DVL1 |
NM_004421.2:c.1702C>T |
NP_004412.2:p.Arg568Trp |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1960633 | 1960633 | G > A | GABRD |
NM_000815.4:c.775G>A |
NP_000806.2:p.Val259Ile |
7/6955 | 0.0005 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 2235762 | 2235762 | C > T | SKI |
NM_003036.3:c.1505C>T |
NP_003027.1:p.Pro502Leu |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 2338295 | 2338295 | G > A | PEX10 PEX10 |
NM_153818.1:c.700C>T NM_002617.3:c.640C>T |
NP_722540.1:p.Arg234Cys NP_002608.1:p.Arg214Cys |
5/8745 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 3301830 | 3301830 | A > G | PRDM16 PRDM16 |
NM_199454.2:c.553A>G NM_022114.3:c.553A>G |
NP_955533.2:p.Met185Val NP_071397.3:p.Met185Val |
6/6955 | 0.00043 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 6529605 | 6529605 | A > G | PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 |
NM_001042663.1:c.2100T>C NM_001042665.1:c.1932T>C NM_001042664.1:c.1932T>C NM_001265593.1:c.2139T>C NM_020631.4:c.1932T>C NM_001265594.1:c.1932T>C NM_001265592.1:c.2169T>C NM_198681.3:c.2163T>C |
NP_001036128.1:p.Pro700= NP_001036130.1:p.Pro644= NP_001036129.1:p.Pro644= NP_001252522.1:p.Pro713= NP_065682.2:p.Pro644= NP_001252523.1:p.Pro644= NP_001252521.1:p.Pro723= NP_941374.2:p.Pro721= |
8/8745 | 0.00046 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 8420319 | 8420319 | C > A | RERE RERE RERE |
NM_012102.3:c.3248G>T NM_001042682.1:c.1586G>T NM_001042681.1:c.3248G>T |
NP_036234.3:p.Gly1083Val NP_001036147.1:p.Gly529Val NP_001036146.1:p.Gly1083Val |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 11736959 | 11736959 | C > T | MAD2L2 MAD2L2 |
NM_006341.3:c.278G>A NM_001127325.1:c.278G>A |
NP_006332.3:p.Arg93His NP_001120797.1:p.Arg93His |
6/6916 | 0.00043 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 20964534 | 20964534 | C > T | TRNAN-GUU PINK1 |
NM_032409.2:c.587C>T |
NP_115785.1:p.Pro196Leu |
9/6955 | 0.00065 | 3 | Uncertain Significance | |

View | 1 | 20979136 | 20979136 | G > A | TRNAN-GUU DDOST |
ENST00000375048.3:c.1199C>T |
ENSP00000364188.3:p.Thr400Ile |
40/6955 | 0.00288 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 20981934 | 20981934 | C > T | TRNAN-GUU DDOST |
ENST00000375048.3:c.601G>A |
ENSP00000364188.3:p.Gly201Arg |
2/6955 | 0.00014 | 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 |
2/8745 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27023087 | 27023087 | C > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.193C>G NM_006015.4:c.193C>G |
NP_624361.1:p.Pro65Ala NP_006006.3:p.Pro65Ala |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27120874 | 27120874 | A > G | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.349A>G NM_017837.3:c.349A>G |
NP_001189483.1:p.Ile117Val NP_060307.2:p.Ile117Val |
21/6955 | 0.00151 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27930145 | 27930145 | T > C | TRNAN-GUU | 1/2745 | 0.00018 | 4 | intronic | Uncertain Significance | ||

View | 1 | 38006125 | 38006125 | G > A | TRNAN-GUU SNIP1 |
NM_024700.3:c.559C>T |
NP_078976.2:p.Arg187Trp |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40539750 | 40539750 | T > C | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.595A>G NM_000310.3:c.904A>G |
NP_001136076.1:p.Ile199Val NP_000301.1:p.Ile302Val |
21/8745 | 0.0012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40770513 | 40770513 | G > A | COL9A2 TRNAN-GUU |
NM_001852.3:c.1114C>T |
NP_001843.1:p.Pro372Ser |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40777800 | 40777800 | T > C | COL9A2 TRNAN-GUU |
NM_001852.3:c.364-16A>G |
6/6916 | 0.00043 | 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 |
1/6955 | 7.0e-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 |
1/6946 | 7.0e-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 |
2/6955 | 0.00014 | 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 |
3/8745 | 0.00017 | 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 |
4/6955 | 0.00029 | 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 |
5/8745 | 0.00029 | 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 |
4/6955 | 0.00029 | 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= |
3/6955 | 0.00022 | 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 |
28/8745 | 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 |
6/8745 | 0.00034 | 3 | Uncertain Significance | |

View | 1 | 53676371 | 53676371 | T > C | TRNAN-GUU CPT2 |
NM_000098.2:c.1025T>C |
NP_000089.1:p.Met342Thr |
17/8745 | 0.00097 | 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 |
3/6916 | 0.00022 | 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 |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00014 | 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 |
1/6955 | 7.0e-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 |
3/6955 | 0.00022 | 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 |
9/8745 | 0.00051 | 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 |
1/6955 | 7.0e-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 |
26/6916 | 0.00195 | 3 | 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 |
2/6955 | 0.00014 | 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 |
44/6955 | 0.00324 | 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 |
1/6916 | 7.0e-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 |
54/6955 | 0.00395 | 3 | Uncertain Significance | |

View | 1 | 120468261 | 120468261 | C > T | TRNAN-GUU NOTCH2 |
NM_024408.3:c.4178G>A |
NP_077719.2:p.Arg1393His |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00022 | 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 |
2/6955 | 0.00014 | 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 |
2/6955 | 0.00014 | 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 |
103/8745 | 0.00589 | 3 | 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 |
2/7607 | 0.00013 | 3 | non_synonymous | Uncertain Significance |