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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 | 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 |
2/7607 | 0.00013 | 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 |
1/6955 | 7.0e-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 |
1/6955 | 7.0e-05 | 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 |
1/6955 | 7.0e-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 |
2/6955 | 0.00014 | 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 |
1/6955 | 7.0e-05 | 3 | non_synonymous | 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 |
11/6955 | 0.00079 | 3 | Uncertain Significance | |

View | 1 | 205028229 | 205028229 | C > T | CNTN2 |
NM_005076.3:c.505C>T |
NP_005067.1:p.Leu169Phe |
56/6955 | 0.00403 | 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 |
12/6955 | 0.00086 | 3 | Uncertain Significance | |

View | 1 | 214820265 | 214820265 | A > G | CENPF |
NM_016343.3:c.7352A>G |
NP_057427.3:p.Asn2451Ser |
4/6916 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220279317 | 220279317 | T > C | IARS2 |
NM_018060.3:c.1151T>C |
NP_060530.3:p.Met384Thr |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220355619 | 220355619 | G > A | RAB3GAP2 |
NM_012414.3:c.2290C>T |
NP_036546.2:p.Leu764Phe |
20/8745 | 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 |
5/8745 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346015 | 228346015 | G > T | GJC2 |
NM_020435.3:c.556G>T |
NP_065168.2:p.Gly186Cys |
18/8745 | 0.00103 | 3 | Uncertain Significance | |

View | 1 | 228346406 | 228346406 | C > T | GJC2 |
NM_020435.3:c.947C>T |
NP_065168.2:p.Pro316Leu |
16/8745 | 0.00091 | 3 | Uncertain Significance | |

View | 1 | 228346429 | 228346429 | G > A | GJC2 |
NM_020435.3:c.970G>A |
NP_065168.2:p.Ala324Thr |
2/8745 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346693 | 228346693 | C > T | GJC2 |
NM_020435.3:c.1234C>T |
NP_065168.2:p.His412Tyr |
20/8745 | 0.00114 | 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 |
5/8745 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237048482 | 237048482 | A > T | MTR |
NM_000254.2:c.2738A>T |
NP_000245.2:p.Tyr913Phe |
2/6955 | 0.00014 | 3 | Uncertain Significance | |

View | 1 | 237655172 | 237655172 | G > T | RYR2 |
NM_001035.2:c.1775G>T |
NP_001026.2:p.Gly592Val |
1/7144 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237791239 | 237791239 | G > A | RYR2 |
NM_001035.2:c.6299G>A |
NP_001026.2:p.Arg2100Gln |
3/7144 | 0.00021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237957188 | 237957188 | C > T | RYR2 |
NM_001035.2:c.13804C>T |
NP_001026.2:p.Arg4602Ter |
2/7144 | 0.00014 | 3 | premature_stop | Uncertain Significance |

View | 1 | 240256362 | 240256362 | C > T | FMN2 |
NM_020066.4:c.953C>T |
NP_064450.3:p.Pro318Leu |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240256668 | 240256668 | A > C | FMN2 |
NM_020066.4:c.1259A>C |
NP_064450.3:p.Lys420Thr |
42/6955 | 0.00309 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240421302 | 240421302 | C > A | FMN2 |
NM_020066.4:c.4123C>A |
NP_064450.3:p.Leu1375Ile |
6/6955 | 0.00043 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 244217383 | 244217383 | A > T | ZBTB18 ZBTB18 ZBTB18 |
NM_205768.2:c.307A>T NM_001278196.1:c.280A>T NM_006352.4:c.280A>T |
NP_991331.1:p.Ile103Phe NP_001265125.1:p.Ile94Phe NP_006343.2:p.Ile94Phe |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 245005295 | 245005295 | G > A | COX20 HNRNPU-AS1 |
NM_198076.4:c.92G>A NR_026778.1:n.3690C>T |
NP_932342.1:p.Arg31Gln |
7/6955 | 0.0005 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 294304 | 294304 | G > A | ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 |
NM_001202468.1:c.1256G>A NM_001202467.1:c.1094G>A NM_001202466.1:c.1091G>A NM_001202465.1:c.1001G>A NM_001202464.1:c.1094G>A NM_212479.3:c.1253G>A NM_006624.5:c.1256G>A |
NP_001189397.1:p.Ser419Asn NP_001189396.1:p.Ser365Asn NP_001189395.1:p.Ser364Asn NP_001189394.1:p.Ser334Asn NP_001189393.1:p.Ser365Asn NP_997644.2:p.Ser418Asn NP_006615.2:p.Ser419Asn |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 14950747 | 14950747 | G > A | DCLRE1C DCLRE1C DCLRE1C DCLRE1C |
NM_022487.2:c.1394C>T NM_001033855.1:c.1739C>T NM_001033857.1:c.1379C>T NM_001033858.1:c.1379C>T |
NP_071932.2:p.Pro465Leu NP_001029027.1:p.Pro580Leu NP_001029029.1:p.Pro460Leu NP_001029030.1:p.Pro460Leu |
5/8745 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 26409656 | 26409656 | A > G | MYO3A |
NM_017433.4:c.1828A>G |
NP_059129.3:p.Ile610Val |
6/6955 | 0.00043 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 27009232 | 27009232 | G > A | PDSS1 |
NM_014317.3:c.553G>A |
NP_055132.2:p.Asp185Asn |
1/8745 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 28878720 | 28878720 | A > G | WAC WAC WAC |
NM_016628.4:c.437A>G NM_100486.3:c.437A>G NR_024557.2:n.911A>G |
NP_057712.2:p.Tyr146Cys NP_567823.1:p.Tyr146Cys |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 28903518 | 28903518 | A > C | WAC WAC WAC |
NM_016628.4:c.1460A>C NM_100486.3:c.1151A>C NR_024557.2:n.1934A>C |
NP_057712.2:p.Gln487Pro NP_567823.1:p.Gln384Pro |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 28905283 | 28905283 | G > A | WAC WAC WAC |
NM_016628.4:c.1738G>A NM_100486.3:c.1429G>A NR_024557.2:n.2212G>A |
NP_057712.2:p.Glu580Lys NP_567823.1:p.Glu477Lys |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 30630500 | 30630500 | C > T | MTPAP |
NM_018109.3:c.227G>A |
NP_060579.3:p.Arg76Gln |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 48382036 | 48382036 | A > T | RBP3 |
NM_002900.2:c.3613T>A |
NP_002891.1:p.Ser1205Thr |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50678363 | 50678363 | C > T | ERCC6 |
NM_000124.3:c.3643G>A |
NP_000115.1:p.Ala1215Thr |
1/8745 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50684346 | 50684346 | C > A | ERCC6 |
NM_000124.3:c.2297G>T |
NP_000115.1:p.Cys766Phe |
2/8745 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61835217 | 61835217 | T > C | ANK3 ANK3 ANK3 ANK3 |
NM_001204403.1:c.4387+5078A>G NM_001204404.1:c.4408+5078A>G NM_001149.3:c.1807+5078A>G NM_020987.3:c.5422A>G |
NP_066267.2:p.Ile1808Val |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61955908 | 61955908 | C > T | ANK3 ANK3 ANK3 |
NM_001204403.1:c.1864G>A NM_001204404.1:c.1831G>A NM_020987.3:c.1882G>A |
NP_001191332.1:p.Ala622Thr NP_001191333.1:p.Ala611Thr NP_066267.2:p.Ala628Thr |
4/6955 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61962857 | 61962857 | G > A | ANK3 ANK3 ANK3 |
NM_001204403.1:c.1277C>T NM_001204404.1:c.1244C>T NM_020987.3:c.1295C>T |
NP_001191332.1:p.Ser426Leu NP_001191333.1:p.Ser415Leu NP_066267.2:p.Ser432Leu |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73587868 | 73587868 | A > C | PSAP PSAP PSAP |
NM_001042465.1:c.623T>G NM_001042466.1:c.623T>G NM_002778.2:c.623T>G |
NP_001035930.1:p.Ile208Ser NP_001035931.1:p.Ile208Ser NP_002769.1:p.Ile208Ser |
6/8745 | 0.00034 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73767307 | 73767307 | C > T | CHST3 |
NM_004273.4:c.518C>T |
NP_004264.2:p.Ser173Phe |
2/7166 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 76729526 | 76729526 | G > A | KAT6B KAT6B KAT6B |
NM_001256469.1:c.839G>A NM_012330.3:c.839G>A NM_001256468.1:c.839G>A |
NP_001243398.1:p.Arg280Lys NP_036462.2:p.Arg280Lys NP_001243397.1:p.Arg280Lys |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 89622108 | 89622108 | A > C | KLLN |
NM_001126049.1:c.137T>G |
NP_001119521.1:p.Phe46Cys |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 95930939 | 95930939 | C > T | PLCE1 PLCE1 |
NM_016341.3:c.1495C>T NM_001165979.1:c.571C>T |
NP_057425.3:p.Arg499Cys NP_001159451.1:p.Arg191Cys |
34/8745 | 0.00194 | 3 | Uncertain Significance | |

View | 10 | 97371177 | 97371177 | T > C | ALDH18A1 ALDH18A1 |
NM_001017423.1:c.1940A>G NM_002860.3:c.1946A>G |
NP_001017423.1:p.Lys647Arg NP_002851.2:p.Lys649Arg |
4/6955 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 99502913 | 99502916 | TGAA > - | ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 |
NM_001174119.1:c.173-1570_173-1567del NM_144588.6:c.263_266del NM_001174122.1:c.197+4485_197+4488del NM_001002261.3:c.263_266del NM_001174121.1:c.-26-1570_-26-1567del NM_001002262.3:c.263_266del NM_001174120.1:c.197+4485_197+4488del |
NP_653189.3:p.Asn88ArgfsTer7 NP_001002261.1:p.Asn88ArgfsTer7 NP_001002262.1:p.Asn88ArgfsTer7 |
3/6955 | 0.00022 | 2 | frameshift | Uncertain Significance |

View | 10 | 103534548 | 103534548 | T > G | FGF8 FGF8 FGF8 FGF8 FGF8 |
NM_033163.3:c.278A>C NM_006119.4:c.191A>C NM_033165.3:c.158A>C NM_033164.3:c.245A>C NM_001206389.1:c.-35A>C |
NP_149353.1:p.His93Pro NP_006110.1:p.His64Pro NP_149355.1:p.His53Pro NP_149354.1:p.His82Pro |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 111893356 | 111893358 | AAG > - | ADD3 ADD3 ADD3 |
NM_001121.2:c.2005_2007del NM_019903.3:c.2005_2007del NM_016824.3:c.2101_2103del |
NP_001112.2:p.Lys669del NP_063968.1:p.Lys669del NP_058432.1:p.Lys701del |
2/6916 | 0.00014 | 3 | in_frame_indel | Uncertain Significance |