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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 | 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 |
1/6213 | 8.0e-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 |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 197071299 | 197071299 | G > C | ASPM ASPM |
NM_018136.4:c.7082C>G NM_001206846.1:c.4066-6005C>G |
NP_060606.3:p.Ser2361Cys |
2/6213 | 0.00016 | 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 |
10/6213 | 0.0008 | 3 | Uncertain Significance | |

View | 1 | 202722108 | 202722109 | AA > - | KDM5B |
NM_006618.3:c.1625_1626del |
NP_006609.3:p.Phe542CysfsTer23 |
1/6213 | 8.0e-05 | 2 | frameshift | Uncertain Significance |

View | 1 | 205028229 | 205028229 | C > T | CNTN2 |
NM_005076.3:c.505C>T |
NP_005067.1:p.Leu169Phe |
49/6213 | 0.00394 | 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 |
12/6213 | 0.00097 | 3 | Uncertain Significance | |

View | 1 | 214820265 | 214820265 | A > G | CENPF |
NM_016343.3:c.7352A>G |
NP_057427.3:p.Asn2451Ser |
4/6174 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220279317 | 220279317 | T > C | IARS2 |
NM_018060.3:c.1151T>C |
NP_060530.3:p.Met384Thr |
3/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 220355619 | 220355619 | G > A | RAB3GAP2 |
NM_012414.3:c.2290C>T |
NP_036546.2:p.Leu764Phe |
19/8004 | 0.00119 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 227170644 | 227170644 | A > G | COQ8A |
NM_020247.4:c.989A>G |
NP_064632.2:p.Tyr330Cys |
4/8004 | 0.00025 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346015 | 228346015 | G > T | GJC2 |
NM_020435.3:c.556G>T |
NP_065168.2:p.Gly186Cys |
18/8004 | 0.00112 | 3 | Uncertain Significance | |

View | 1 | 228346406 | 228346406 | C > T | GJC2 |
NM_020435.3:c.947C>T |
NP_065168.2:p.Pro316Leu |
15/8004 | 0.00094 | 3 | Uncertain Significance | |

View | 1 | 228346429 | 228346429 | G > A | GJC2 |
NM_020435.3:c.970G>A |
NP_065168.2:p.Ala324Thr |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346693 | 228346693 | C > T | GJC2 |
NM_020435.3:c.1234C>T |
NP_065168.2:p.His412Tyr |
19/8004 | 0.00119 | 3 | Uncertain Significance | |

View | 1 | 235577815 | 235577815 | A > G | TBCE TBCE |
NM_003193.3:c.253A>G NM_001079515.1:c.253A>G |
NP_003184.1:p.Ile85Val NP_001072983.1:p.Ile85Val |
5/8004 | 0.00031 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237048482 | 237048482 | A > T | MTR |
NM_000254.2:c.2738A>T |
NP_000245.2:p.Tyr913Phe |
2/6213 | 0.00016 | 3 | Uncertain Significance | |

View | 1 | 237655172 | 237655172 | G > T | RYR2 |
NM_001035.2:c.1775G>T |
NP_001026.2:p.Gly592Val |
1/6402 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237791239 | 237791239 | G > A | RYR2 |
NM_001035.2:c.6299G>A |
NP_001026.2:p.Arg2100Gln |
3/6402 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237957188 | 237957188 | C > T | RYR2 |
NM_001035.2:c.13804C>T |
NP_001026.2:p.Arg4602Ter |
2/6402 | 0.00016 | 3 | premature_stop | Uncertain Significance |

View | 1 | 240256362 | 240256362 | C > T | FMN2 |
NM_020066.4:c.953C>T |
NP_064450.3:p.Pro318Leu |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240256668 | 240256668 | A > C | FMN2 |
NM_020066.4:c.1259A>C |
NP_064450.3:p.Lys420Thr |
37/6213 | 0.00306 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240421302 | 240421302 | C > A | FMN2 |
NM_020066.4:c.4123C>A |
NP_064450.3:p.Leu1375Ile |
6/6213 | 0.00048 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 244217383 | 244217383 | A > T | ZBTB18 ZBTB18 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 |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 245005295 | 245005295 | G > A | HNRNPU-AS1 COX20 |
NR_026778.1:n.3690C>T NM_198076.4:c.92G>A |
NP_932342.1:p.Arg31Gln |
6/6213 | 0.00048 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 294304 | 294304 | G > A | ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 |
NM_001202467.1:c.1094G>A NM_001202465.1:c.1001G>A NM_212479.3:c.1253G>A NM_001202464.1:c.1094G>A NM_001202466.1:c.1091G>A NM_006624.5:c.1256G>A NM_001202468.1:c.1256G>A |
NP_001189396.1:p.Ser365Asn NP_001189394.1:p.Ser334Asn NP_997644.2:p.Ser418Asn NP_001189393.1:p.Ser365Asn NP_001189395.1:p.Ser364Asn NP_006615.2:p.Ser419Asn NP_001189397.1:p.Ser419Asn |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 14950747 | 14950747 | G > A | DCLRE1C DCLRE1C DCLRE1C 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 |
3/8004 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 26409656 | 26409656 | A > G | MYO3A |
NM_017433.4:c.1828A>G |
NP_059129.3:p.Ile610Val |
6/6213 | 0.00048 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 27009232 | 27009232 | G > A | PDSS1 |
NM_014317.3:c.553G>A |
NP_055132.2:p.Asp185Asn |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 28878720 | 28878720 | A > G | WAC WAC WAC |
NR_024557.2:n.911A>G NM_100486.3:c.437A>G NM_016628.4:c.437A>G |
NP_567823.1:p.Tyr146Cys NP_057712.2:p.Tyr146Cys |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 28903518 | 28903518 | A > C | WAC WAC WAC |
NR_024557.2:n.1934A>C NM_100486.3:c.1151A>C NM_016628.4:c.1460A>C |
NP_567823.1:p.Gln384Pro NP_057712.2:p.Gln487Pro |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 30630500 | 30630500 | C > T | MTPAP |
NM_018109.3:c.227G>A |
NP_060579.3:p.Arg76Gln |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 48382036 | 48382036 | A > T | RBP3 |
NM_002900.2:c.3613T>A |
NP_002891.1:p.Ser1205Thr |
3/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50678363 | 50678363 | C > T | ERCC6 |
NM_000124.3:c.3643G>A |
NP_000115.1:p.Ala1215Thr |
1/8004 | 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 |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61835217 | 61835217 | T > C | ANK3 ANK3 ANK3 ANK3 |
NM_001149.3:c.1807+5078A>G NM_001204404.1:c.4408+5078A>G NM_020987.3:c.5422A>G NM_001204403.1:c.4387+5078A>G |
NP_066267.2:p.Ile1808Val |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61955908 | 61955908 | C > T | ANK3 ANK3 ANK3 |
NM_001204404.1:c.1831G>A NM_020987.3:c.1882G>A NM_001204403.1:c.1864G>A |
NP_001191333.1:p.Ala611Thr NP_066267.2:p.Ala628Thr NP_001191332.1:p.Ala622Thr |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61962857 | 61962857 | G > A | ANK3 ANK3 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 |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73587868 | 73587868 | A > C | PSAP PSAP PSAP |
NM_001042466.1:c.623T>G NM_001042465.1:c.623T>G NM_002778.2:c.623T>G |
NP_001035931.1:p.Ile208Ser NP_001035930.1:p.Ile208Ser NP_002769.1:p.Ile208Ser |
6/8004 | 0.00037 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73767307 | 73767307 | C > T | CHST3 |
NM_004273.4:c.518C>T |
NP_004264.2:p.Ser173Phe |
2/6435 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 76729526 | 76729526 | G > A | KAT6B KAT6B 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 |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 89622108 | 89622108 | A > C | KLLN |
NM_001126049.1:c.137T>G |
NP_001119521.1:p.Phe46Cys |
1/6213 | 8.0e-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 |
31/8004 | 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 |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 99502913 | 99502916 | TGAA > - | ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 ZFYVE27 |
NM_144588.6:c.263_266del NM_001174119.1:c.173-1570_173-1567del NM_001174120.1:c.197+4485_197+4488del NM_001174121.1:c.-26-1570_-26-1567del NM_001002261.3:c.263_266del NM_001174122.1:c.197+4485_197+4488del NM_001002262.3:c.263_266del |
NP_653189.3:p.Asn88ArgfsTer7 NP_001002261.1:p.Asn88ArgfsTer7 NP_001002262.1:p.Asn88ArgfsTer7 |
3/6213 | 0.00024 | 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_033164.3:c.245A>C NM_033165.3:c.158A>C NM_001206389.1:c.-35A>C |
NP_149353.1:p.His93Pro NP_006110.1:p.His64Pro NP_149354.1:p.His82Pro NP_149355.1:p.His53Pro |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 111893356 | 111893358 | AAG > - | ADD3 ADD3 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 |
2/6174 | 0.00016 | 3 | in_frame_indel | Uncertain Significance |

View | 10 | 111893374 | 111893377 | TAAA > - | ADD3 ADD3 ADD3 |
NM_019903.3:c.*2_*5del NM_016824.3:c.*2_*5del NM_001121.2:c.*2_*5del |
5/6174 | 0.0004 | 3 | disruption_of_stop | Uncertain Significance | |

View | 10 | 124812634 | 124812634 | A > G | ACADSB |
NM_001609.3:c.1186A>G |
NP_001600.1:p.Lys396Glu |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 135186831 | 135186831 | C > T | ECHS1 |
NM_004092.3:c.7G>A |
NP_004083.3:p.Ala3Thr |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |