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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 | 227170644 | 227170644 | A > G | ADCK3 |
NM_020247.4:c.989A>G |
NP_064632.2:p.Tyr330Cys |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346406 | 228346406 | C > T | GJC2 |
NM_020435.3:c.947C>T |
NP_065168.2:p.Pro316Leu |
12/6913 | 0.00087 | 3 | Uncertain Significance | |

View | 1 | 228346429 | 228346429 | G > A | GJC2 |
NM_020435.3:c.970G>A |
NP_065168.2:p.Ala324Thr |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 228346693 | 228346693 | C > T | GJC2 |
NM_020435.3:c.1234C>T |
NP_065168.2:p.His412Tyr |
18/6913 | 0.0013 | 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 |
4/6913 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237655172 | 237655172 | G > T | RYR2 |
NM_001035.2:c.1775G>T |
NP_001026.2:p.Gly592Val |
1/5308 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237791239 | 237791239 | G > A | RYR2 |
NM_001035.2:c.6299G>A |
NP_001026.2:p.Arg2100Gln |
3/5308 | 0.00028 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 237957188 | 237957188 | C > T | RYR2 |
NM_001035.2:c.13804C>T |
NP_001026.2:p.Arg4602Ter |
2/5308 | 0.00019 | 3 | premature_stop | Uncertain Significance |

View | 1 | 240256362 | 240256362 | C > T | FMN2 |
NM_020066.4:c.953C>T |
NP_064450.3:p.Pro318Leu |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 240421302 | 240421302 | C > A | FMN2 |
NM_020066.4:c.4123C>A |
NP_064450.3:p.Leu1375Ile |
6/5119 | 0.00059 | 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 |
2/5119 | 0.0002 | 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 |
3/5119 | 0.00029 | 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 |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 26409656 | 26409656 | A > G | MYO3A |
NM_017433.4:c.1828A>G |
NP_059129.3:p.Ile610Val |
5/5119 | 0.00049 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 27009232 | 27009232 | G > A | PDSS1 |
NM_014317.3:c.553G>A |
NP_055132.2:p.Asp185Asn |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 28903518 | 28903518 | A > C | 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 |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 30630500 | 30630500 | C > T | MTPAP |
NM_018109.3:c.227G>A |
NP_060579.3:p.Arg76Gln |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 48382036 | 48382036 | A > T | RBP3 |
NM_002900.2:c.3613T>A |
NP_002891.1:p.Ser1205Thr |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50678363 | 50678363 | C > T | ERCC6 |
NM_000124.3:c.3643G>A |
NP_000115.1:p.Ala1215Thr |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 50684346 | 50684346 | C > A | ERCC6 |
NM_000124.3:c.2297G>T |
NP_000115.1:p.Cys766Phe |
2/6913 | 0.00014 | 3 | non_synonymous | 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 |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73587868 | 73587868 | A > C | 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 |
6/6913 | 0.00043 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 73767307 | 73767307 | C > T | CHST3 |
NM_004273.4:c.518C>T |
NP_004264.2:p.Ser173Phe |
2/5211 | 0.00019 | 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 |
1/5119 | 0.0001 | 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 |
2/5119 | 0.0002 | 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 |
2/5101 | 0.0002 | 3 | in_frame_indel | Uncertain Significance |

View | 10 | 111893374 | 111893377 | TAAA > - | ADD3 |
NM_019903.3:c.*2_*5del NM_016824.3:c.*2_*5del NM_001121.2:c.*2_*5del |
5/5101 | 0.00049 | 3 | disruption_of_stop | Uncertain Significance | |

View | 10 | 124812634 | 124812634 | A > G | ACADSB |
NM_001609.3:c.1186A>G |
NP_001600.1:p.Lys396Glu |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 10 | 135186831 | 135186831 | C > T | ECHS1 |
NM_004092.3:c.7G>A |
NP_004083.3:p.Ala3Thr |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 654011 | 654011 | C > T | DEAF1 |
NM_021008.2:c.1544G>A |
NP_066288.2:p.Cys515Tyr |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 1780857 | 1780857 | C > A | CTSD |
NM_001909.4:c.241G>T |
NP_001900.1:p.Gly81Trp |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 2610045 | 2610045 | C > T | KCNQ1 |
NM_000218.2:c.1354C>T NR_040711.2:n.1247C>T |
NP_000209.2:p.Arg452Trp |
2/5119 | 0.0002 | 3 | Uncertain Significance | |

View | 11 | 3846253 | 3846253 | C > T | PGAP2 |
NR_045925.1:n.460C>T NM_001256237.1:c.779C>T NM_014489.3:c.712C>T NR_045929.1:n.596C>T NR_045927.1:n.629C>T NM_001145438.2:c.688C>T NR_027017.2:n.1012C>T NM_001256236.1:c.883C>T NM_001256235.1:c.583C>T NM_001256239.1:c.517C>T NR_027016.2:n.480C>T NR_045923.1:n.550C>T NR_045926.1:n.472C>T NM_001256240.1:c.529C>T NR_027018.2:n.677C>T NM_001256238.1:c.602C>T |
NP_001243166.1:p.Ser260Leu NP_055304.1:p.Arg238Cys NP_001138910.1:p.Arg230Cys NP_001243165.1:p.Arg295Cys NP_001243164.1:p.Arg195Cys NP_001243168.1:p.Arg173Cys NP_001243169.1:p.Arg177Cys NP_001243167.1:p.Ser201Leu |
10/5119 | 0.00098 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 4112541 | 4112541 | C > T | STIM1 |
NM_003156.3:c.1571C>T NM_001277961.1:c.1889C>T NM_001277962.1:c.1608C>T |
NP_003147.2:p.Ser524Phe NP_001264890.1:p.Ser630Phe NM_001277962.1:c.1608C>T(p.%3D) |
30/6913 | 0.00217 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 6415259 | 6415259 | G > A | SMPD1 |
NM_001007593.2:c.1471G>A NM_000543.4:c.1474G>A |
NP_001007594.2:p.Gly491Ser NP_000534.3:p.Gly492Ser |
14/6913 | 0.00101 | 1 | Uncertain Significance | |

View | 11 | 6415539 | 6415539 | C > T | SMPD1 |
NM_001007593.2:c.1595C>T NM_000543.4:c.1598C>T |
NP_001007594.2:p.Pro532Leu NP_000534.3:p.Pro533Leu |
1/6913 | 7.0e-05 | 3 | Uncertain Significance | |

View | 11 | 6645388 | 6645388 | T > C | DCHS1 |
NM_003737.2:c.7519A>G |
NP_003728.1:p.Thr2507Ala |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 6651470 | 6651470 | G > A | DCHS1 |
NM_003737.2:c.4555C>T |
NP_003728.1:p.Pro1519Ser |
21/5119 | 0.00205 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 6661299 | 6661299 | C > T | DCHS1 |
NM_003737.2:c.1546G>A |
NP_003728.1:p.Ala516Thr |
7/5119 | 0.00068 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 6661742 | 6661742 | C > T | DCHS1 |
NM_003737.2:c.1103G>A |
NP_003728.1:p.Ser368Asn |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 17519789 | 17519789 | C > T | USH1C |
NM_153676.3:c.2410G>A NM_005709.3:c.1510G>A |
NP_710142.1:p.Ala804Thr NP_005700.2:p.Ala504Thr |
2/6913 | 0.00014 | 3 | Uncertain Significance | |

View | 11 | 17580151 | 17580151 | C > T | OTOG |
NM_001277269.1:c.1099C>T |
NP_001264198.1:p.Pro367Ser |
1/5110 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 17627538 | 17627538 | C > T | OTOG |
NM_001277269.1:c.4048C>T |
NP_001264198.1:p.Arg1350Trp |
3/5110 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 17632921 | 17632921 | C > T | OTOG |
NM_001277269.1:c.6110C>T |
NP_001264198.1:p.Ala2037Val |
23/5110 | 0.00225 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 17667402 | 17667402 | C > T | OTOG |
NM_001277269.1:c.8689C>T |
NP_001264198.1:p.Arg2897Cys |
1/5110 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 18309531 | 18309531 | C > T | HPS5 |
NM_181508.1:c.2128G>A NM_181507.1:c.2470G>A NM_007216.3:c.2128G>A |
NP_852609.1:p.Glu710Lys NP_852608.1:p.Glu824Lys NP_009147.3:p.Glu710Lys |
2/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 22301267 | 22301267 | A > C | ANO5 |
NM_213599.2:c.2698A>C NM_001142649.1:c.2695A>C |
NP_998764.1:p.Met900Leu NP_001136121.1:p.Met899Leu |
24/5119 | 0.00234 | 3 | Uncertain Significance | |

View | 11 | 22646972 | 22646972 | G > C | FANCF |
NM_022725.3:c.385C>G |
NP_073562.1:p.Leu129Val |
5/5119 | 0.00049 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 35327683 | 35327683 | G > T | SLC1A2 |
NM_001252652.1:c.641C>A NM_001195728.2:c.641C>A NM_004171.3:c.668C>A |
NP_001239581.1:p.Pro214Gln NP_001182657.1:p.Pro214Gln NP_004162.2:p.Pro223Gln |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 44265835 | 44265835 | T > G | EXT2 |
NM_001178083.1:c.2185T>G NM_207122.1:c.2155T>G NM_000401.3:c.2254T>G |
NP_001171554.1:p.Ter729GlyextTer8 NP_997005.1:p.Ter719GlyextTer8 NP_000392.3:p.Ter752GlyextTer8 |
1/5119 | 0.0001 | 3 | disruption_of_stop | Uncertain Significance |