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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 | 237823369 | 237823369 | G > T | RYR2 |
NM_001035.2:c.8293G>T |
NP_001026.2:p.Glu2765Ter |
1/13333 | 4.0e-05 | 2 | premature_stop | Uncertain Significance |

View | 1 | 237949299 | 237949299 | G > A | RYR2 |
NM_001035.2:c.13291G>A |
NP_001026.2:p.Glu4431Lys |
7/13333 | 0.00026 | 3 | Uncertain Significance | |

View | 1 | 237957188 | 237957188 | C > T | RYR2 |
NM_001035.2:c.13804C>T |
NP_001026.2:p.Arg4602Ter |
2/13333 | 8.0e-05 | 3 | curation | Uncertain Significance |

View | 1 | 240256362 | 240256362 | C > T | FMN2 |
NM_020066.4:c.953C>T |
NP_064450.3:p.Pro318Leu |
6/13144 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240256653 | 240256653 | C > G | FMN2 |
NM_020066.4:c.1244C>G |
NP_064450.3:p.Thr415Ser |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240256668 | 240256668 | A > C | FMN2 |
NM_020066.4:c.1259A>C |
NP_064450.3:p.Lys420Thr |
91/13144 | 0.0035 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240371314 | 240371314 | C > T | FMN2 |
NM_020066.4:c.3202C>T |
NP_064450.3:p.Pro1068Ser |
5/13144 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240421302 | 240421302 | C > A | FMN2 |
NM_020066.4:c.4123C>A |
NP_064450.3:p.Leu1375Ile |
10/13144 | 0.00038 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240492419 | 240492419 | G > A | FMN2 |
NM_020066.4:c.4259G>A |
NP_064450.3:p.Arg1420Gln |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240656550 | 240656550 | G > C | GREM2 |
NM_022469.3:c.226C>G |
NP_071914.3:p.Gln76Glu |
87/13105 | 0.00336 | 3 | curation | Uncertain Significance |

View | 1 | 243504462 | 243504462 | T > C | SDCCAG8 |
NM_006642.3:c.1343T>C |
NP_006633.1:p.Met448Thr |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 243663047 | 243663048 | - > T | AKT3 AKT3 SDCCAG8 AKT3 |
NM_005465.4:c.*5503dupA NM_181690.2:c.1395dupA NM_006642.3:c.2113-5dupT NM_001206729.1:c.1395dupA |
NP_859029.1:p.Ter466IlefsTer22 NP_001193658.1:p.Ter466IlefsTer8 |
2/13144 | 8.0e-05 | 3 | frameshift | 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 |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 244217615 | 244217615 | C > T | ZBTB18 ZBTB18 ZBTB18 |
NM_205768.2:c.539C>T NM_001278196.1:c.512C>T NM_006352.4:c.512C>T |
NP_991331.1:p.Pro180Leu NP_001265125.1:p.Pro171Leu NP_006343.2:p.Pro171Leu |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 244217714 | 244217714 | A > G | ZBTB18 ZBTB18 ZBTB18 |
NM_205768.2:c.638A>G NM_001278196.1:c.611A>G NM_006352.4:c.611A>G |
NP_991331.1:p.His213Arg NP_001265125.1:p.His204Arg NP_006343.2:p.His204Arg |
4/13144 | 0.00015 | 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 |
11/13144 | 0.00042 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 288038 | 288038 | C > A | ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 ZMYND11 |
NM_001202468.1:c.909C>A NM_001202467.1:c.747C>A NM_001202466.1:c.744C>A NM_001202465.1:c.654C>A NM_001202464.1:c.747C>A NM_212479.3:c.906C>A NM_006624.5:c.909C>A |
NP_001189397.1:p.Asp303Glu NP_001189396.1:p.Asp249Glu NP_001189395.1:p.Asp248Glu NP_001189394.1:p.Asp218Glu NP_001189393.1:p.Asp249Glu NP_997644.2:p.Asp302Glu NP_006615.2:p.Asp303Glu |
1/13144 | 4.0e-05 | 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 |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 12111096 | 12111096 | C > A | DHTKD1 |
ENST00000263035.4:c.64C>A |
ENSP00000263035.4:p.Arg22Ser |
5/13144 | 0.00019 | 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 |
5/14969 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 15649734 | 15649734 | G > A | ITGA8 |
ENST00000378076.3:c.1706C>T |
ENSP00000367316.3:p.Pro569Leu |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 26241191 | 26241191 | T > A | MYO3A |
NM_017433.4:c.152T>A |
NP_059129.3:p.Ile51Asn |
7/13144 | 0.00027 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 26409656 | 26409656 | A > G | MYO3A |
NM_017433.4:c.1828A>G |
NP_059129.3:p.Ile610Val |
15/13144 | 0.00057 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 27009232 | 27009232 | G > A | PDSS1 |
NM_014317.3:c.553G>A |
NP_055132.2:p.Asp185Asn |
3/14969 | 0.0001 | 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 |
1/13144 | 4.0e-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 |
3/13144 | 0.00011 | 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 |
2/13144 | 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 |
4/13144 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 48382036 | 48382036 | A > T | RBP3 |
NM_002900.2:c.3613T>A |
NP_002891.1:p.Ser1205Thr |
5/13144 | 0.00019 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50678363 | 50678363 | C > T | ERCC6 |
NM_000124.3:c.3643G>A |
NP_000115.1:p.Ala1215Thr |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50684346 | 50684346 | C > A | ERCC6 |
NM_000124.3:c.2297G>T |
NP_000115.1:p.Cys766Phe |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50732618 | 50732618 | C > G | ERCC6-PGBD3 ERCC6-PGBD3 ERCC6 |
NM_001277059.1:c.858G>C NM_001277058.1:c.858G>C NM_000124.3:c.858G>C |
NP_001263988.1:p.Lys286Asn NP_001263987.1:p.Lys286Asn NP_000115.1:p.Lys286Asn |
2/14969 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 55569084 | 55569110 | del > - | PCDH15 PCDH15 PCDH15 PCDH15 |
NM_001142769.1:c.4715_4741del NM_001142770.1:c.*130_*156del NM_001142772.1:c.4482+1206_4482+1232del NM_001142771.1:c.4497+1206_4497+1232del |
NP_001136241.1:p.Gly1572_Glu1371del |
7/13144 | 0.00027 | 3 | in_frame_indel | Uncertain Significance |

View | 10 | 61834719 | 61834719 | G > C | ANK3 ANK3 ANK3 ANK3 |
NM_001204403.1:c.4387+5576C>G NM_001204404.1:c.4408+5576C>G NM_001149.3:c.1807+5576C>G NM_020987.3:c.5920C>G |
NP_066267.2:p.Pro1974Ala |
7/13144 | 0.00027 | 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 |
3/13144 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 61836019 | 61836019 | T > C | ANK3 ANK3 ANK3 ANK3 |
NM_001204403.1:c.4387+4276A>G NM_001204404.1:c.4408+4276A>G NM_001149.3:c.1807+4276A>G NM_020987.3:c.4620A>G |
NP_066267.2:p.Ile1540Met |
2/13144 | 8.0e-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 |
4/13144 | 0.00015 | 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 |
2/13144 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 64573317 | 64573317 | T > C | EGR2 EGR2 EGR2 |
ENST00000242480.3:c.1081A>G ENST00000411732.1:c.931A>G ENST00000439032.1:c.1081A>G |
ENSP00000242480.3:p.Ile361Val ENSP00000387634.1:p.Ile311Val ENSP00000402040.1:p.Ile361Val |
1/14969 | 3.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 70406346 | 70406346 | A > G | TET1 |
NM_030625.2:c.3860A>G |
NP_085128.2:p.Gln1287Arg |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 72195155 | 72195155 | C > T | NODAL |
NM_018055.4:c.778G>A |
NP_060525.3:p.Gly260Arg |
5/13144 | 0.00019 | 3 | curation | Uncertain Significance |

View | 10 | 73337757 | 73337757 | A > G | CDH23 CDH23 CDH23 CDH23 CDH23 |
NM_001171932.1:c.832+8A>G NM_001171931.1:c.832+8A>G NM_022124.5:c.832+8A>G NM_001171930.1:c.832+8A>G NM_052836.3:c.832+8A>G |
27/13813 | 0.00101 | 3 | five_prime_intronic | 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 |
8/14969 | 0.00027 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73767307 | 73767307 | C > T | CHST3 |
NM_004273.4:c.518C>T |
NP_004264.2:p.Ser173Phe |
2/13585 | 7.0e-05 | 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 |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 78832849 | 78832849 | C > T | KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 KCNMA1 |
NM_002247.3:c.1749+6G>A NM_001014797.2:c.1749+6G>A NM_001271519.1:c.1749+6G>A NM_001271518.1:c.1587+6G>A NM_001161353.1:c.1749+6G>A NM_001161352.1:c.1749+6G>A |
4/11986 | 0.00017 | 3 | five_prime_flank | Uncertain Significance | |

View | 10 | 79784767 | 79784767 | C > T | POLR3A |
NM_007055.3:c.452G>A |
NP_008986.2:p.Arg151Gln |
1/13144 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 81049602 | 81049602 | G > A | ZMIZ1 |
NM_020338.3:c.496G>A |
NP_065071.1:p.Val166Met |
3/13105 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 88492731 | 88492731 | T > C | LDB3 LDB3 LDB3 |
NM_001080114.1:c.1852T>C NM_001171610.1:c.2197T>C NM_007078.2:c.2182T>C |
NP_001073583.1:p.Ter618GlnextTer62 NP_001165081.1:p.Ter733GlnextTer62 NP_009009.1:p.Ter728GlnextTer62 |
2/13144 | 8.0e-05 | 3 | disruption_of_stop | Uncertain Significance |

View | 10 | 89622088 | 89622088 | T > - | KLLN |
NM_001126049.1:c.157del |
NP_001119521.1:p.Thr53HisfsTer17 |
1/13144 | 4.0e-05 | 2 | frameshift | Uncertain Significance |