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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 | 981353 | 981353 | C > T | AGRN |
NM_198576.3:c.2690C>T |
NP_940978.2:p.Ala897Val |
18/4281 | 0.0021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1960633 | 1960633 | G > A | GABRD |
NM_000815.4:c.775G>A |
NP_000806.2:p.Val259Ile |
5/4281 | 0.00058 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 2235762 | 2235762 | C > T | SKI |
NM_003036.3:c.1505C>T |
NP_003027.1:p.Pro502Leu |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 3301830 | 3301830 | A > G | PRDM16 |
NM_022114.3:c.553A>G NM_199454.2:c.553A>G |
NP_071397.3:p.Met185Val NP_955533.2:p.Met185Val |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 6529605 | 6529605 | A > G | 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.%3D) NM_001265592.1:c.2169T>C(p.%3D) NM_001042665.1:c.1932T>C(p.%3D) NM_001042664.1:c.1932T>C(p.%3D) NM_020631.4:c.1932T>C(p.%3D) NM_198681.3:c.2163T>C(p.%3D) NM_001042663.1:c.2100T>C(p.%3D) NM_001265594.1:c.1932T>C(p.%3D) |
7/6075 | 0.00058 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 22181472 | 22181472 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.6002G>A |
NP_005520.4:p.Arg2001Gln |
2/6075 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27930145 | 27930145 | T > C | TRNAN-GUU | 1/2651 | 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 |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40539750 | 40539750 | T > C | TRNAN-GUU PPT1 |
NM_000310.3:c.904A>G NM_001142604.1:c.595A>G |
NP_000301.1:p.Ile302Val NP_001136076.1:p.Ile199Val |
11/6075 | 0.00091 | 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 |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40782845 | 40782845 | G > C | TRNAN-GUU COL9A2 |
NM_001852.3:c.25C>G |
NP_001843.1:p.Arg9Gly |
1/4281 | 0.00012 | 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 |
1/4272 | 0.00012 | 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 |
2/4281 | 0.00023 | 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 |
3/6075 | 0.00025 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 53675699 | 53675699 | A > G | TRNAN-GUU CPT2 |
NM_000098.2:c.353A>G |
NP_000089.1:p.Asp118Gly |
21/6075 | 0.00173 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 91403435 | 91403435 | G > A | TRNAN-GUU 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 |
3/4281 | 0.00035 | 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 |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 110170697 | 110170697 | C > A | AMPD2 TRNAN-GUU |
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 |
2/4281 | 0.00023 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | 1 | 154573889 | 154573889 | T > C | 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 |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 155261649 | 155261649 | C > T | PKLR |
NM_181871.3:c.1423G>A NM_000298.5:c.1516G>A |
NP_870986.1:p.Val475Ile NP_000289.1:p.Val506Ile |
72/6075 | 0.00593 | 3 | Uncertain Significance | |

View | 1 | 156108453 | 156108453 | A > C | 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 |
2/4933 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 156108454 | 156108454 | G > C | 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 |
2/4933 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 161179934 | 161179934 | C > A | NDUFS2 |
NM_001166159.1:c.736C>A NM_004550.4:c.736C>A |
NP_001159631.1:p.Gln246Lys NP_004541.1:p.Gln246Lys |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 182354983 | 182354983 | C > G | 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 |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 201328373 | 201328373 | G > A | 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 |
10/4281 | 0.00117 | 3 | Uncertain Significance | |

View | 1 | 214820265 | 214820265 | A > G | CENPF |
NM_016343.3:c.7352A>G |
NP_057427.3:p.Asn2451Ser |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220279317 | 220279317 | T > C | IARS2 |
NM_018060.3:c.1151T>C |
NP_060530.3:p.Met384Thr |
3/4281 | 0.00035 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220355619 | 220355619 | G > A | RAB3GAP2 |
NM_012414.3:c.2290C>T |
NP_036546.2:p.Leu764Phe |
19/6075 | 0.00156 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 227170644 | 227170644 | A > G | ADCK3 |
NM_020247.4:c.989A>G |
NP_064632.2:p.Tyr330Cys |
3/6075 | 0.00025 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346406 | 228346406 | C > T | GJC2 |
NM_020435.3:c.947C>T |
NP_065168.2:p.Pro316Leu |
12/6075 | 0.00099 | 3 | Uncertain Significance | |

View | 1 | 235577815 | 235577815 | A > G | TBCE |
NM_003193.3:c.253A>G NM_001079515.1:c.253A>G |
NP_003184.1:p.Ile85Val NP_001072983.1:p.Ile85Val |
4/6075 | 0.00033 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237655172 | 237655172 | G > T | RYR2 |
NM_001035.2:c.1775G>T |
NP_001026.2:p.Gly592Val |
1/4470 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237791239 | 237791239 | G > A | RYR2 |
NM_001035.2:c.6299G>A |
NP_001026.2:p.Arg2100Gln |
3/4470 | 0.00034 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237957188 | 237957188 | C > T | RYR2 |
NM_001035.2:c.13804C>T |
NP_001026.2:p.Arg4602Ter |
2/4470 | 0.00022 | 3 | premature_stop | Uncertain Significance |

View | 1 | 240421302 | 240421302 | C > A | FMN2 |
NM_020066.4:c.4123C>A |
NP_064450.3:p.Leu1375Ile |
6/4281 | 0.0007 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 244217383 | 244217383 | A > T | ZBTB18 |
NM_006352.4:c.280A>T NM_205768.2:c.307A>T NM_001278196.1:c.280A>T |
NP_006343.2:p.Ile94Phe NP_991331.1:p.Ile103Phe NP_001265125.1:p.Ile94Phe |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 14950747 | 14950747 | G > A | DCLRE1C |
NM_001033858.1:c.1379C>T NM_001033857.1:c.1379C>T NM_001033855.1:c.1739C>T NM_022487.2:c.1394C>T |
NP_001029030.1:p.Pro460Leu NP_001029029.1:p.Pro460Leu NP_001029027.1:p.Pro580Leu NP_071932.2:p.Pro465Leu |
3/6075 | 0.00025 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 27009232 | 27009232 | G > A | PDSS1 |
NM_014317.3:c.553G>A |
NP_055132.2:p.Asp185Asn |
1/6075 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 30630500 | 30630500 | C > T | MTPAP |
NM_018109.3:c.227G>A |
NP_060579.3:p.Arg76Gln |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 48382036 | 48382036 | A > T | RBP3 |
NM_002900.2:c.3613T>A |
NP_002891.1:p.Ser1205Thr |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50678363 | 50678363 | C > T | ERCC6 |
NM_000124.3:c.3643G>A |
NP_000115.1:p.Ala1215Thr |
1/6075 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50684346 | 50684346 | C > A | ERCC6 |
NM_000124.3:c.2297G>T |
NP_000115.1:p.Cys766Phe |
2/6075 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61905727 | 61905727 | T > C | ANK3 |
NM_001204404.1:c.2616A>G NM_001204403.1:c.2597-6882A>G NM_020987.3:c.2615-6882A>G |
NM_001204404.1:c.2616A>G(p.%3D) |
45/4281 | 0.00526 | 3 | five_prime_exonic | Uncertain Significance |

View | 10 | 61962857 | 61962857 | G > A | ANK3 |
NM_001204404.1:c.1244C>T NM_020987.3:c.1295C>T NM_001204403.1:c.1277C>T |
NP_001191333.1:p.Ser415Leu NP_066267.2:p.Ser432Leu NP_001191332.1:p.Ser426Leu |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 76729526 | 76729526 | G > A | KAT6B |
NM_001256469.1:c.839G>A NM_001256468.1:c.839G>A NM_012330.3:c.839G>A |
NP_001243398.1:p.Arg280Lys NP_001243397.1:p.Arg280Lys NP_036462.2:p.Arg280Lys |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 97371177 | 97371177 | T > C | ALDH18A1 |
NM_001017423.1:c.1940A>G NM_002860.3:c.1946A>G |
NP_001017423.1:p.Lys647Arg NP_002851.2:p.Lys649Arg |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 111893356 | 111893358 | AAG > - | ADD3 |
NM_019903.3:c.2005_2007del NM_016824.3:c.2101_2103del NM_001121.2:c.2005_2007del |
NP_063968.1:p.Lys669del NP_058432.1:p.Lys701del NP_001112.2:p.Lys669del |
2/4281 | 0.00023 | 3 | in_frame_indel | Uncertain Significance |

View | 10 | 135186831 | 135186831 | C > T | ECHS1 |
NM_004092.3:c.7G>A |
NP_004083.3:p.Ala3Thr |
1/4281 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 654011 | 654011 | C > T | DEAF1 |
NM_021008.2:c.1544G>A |
NP_066288.2:p.Cys515Tyr |
2/4281 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 1780857 | 1780857 | C > A | CTSD |
NM_001909.4:c.241G>T |
NP_001900.1:p.Gly81Trp |
1/6075 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |