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Chr | Start | Stop | Change | Gene(s) | HGVS_C | HGVS_P | Sample Count | CMH MAF | ACMG Cat. | ACMG Note | Curation | |
---|---|---|---|---|---|---|---|---|---|---|---|---|

View | 5 | 125880717 | 125880717 | G > T | ALDH7A1 ALDH7A1 ALDH7A1 |
NM_001201377.1:c.1482-6C>A NM_001182.4:c.1566-6C>A NM_001202404.1:c.1455-6C>A |
1/8004 | 6.0e-05 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | 5 | 131728202 | 131728202 | T > G | SLC22A5 |
NM_003060.3:c.1345T>G |
NP_003051.1:p.Tyr449Asp |
6/8223 | 0.00036 | 3 | Uncertain Significance | |

View | 5 | 131945093 | 131945093 | G > A | RAD50 |
NM_005732.3:c.3036+5G>A |
16/6213 | 0.00129 | 3 | Uncertain Significance | ||

View | 5 | 132202583 | 132202583 | G > A | UQCRQ |
NM_014402.4:c.10G>A |
NP_055217.2:p.Glu4Lys |
7/8004 | 0.00044 | 3 | non_synonymous | Uncertain Significance |

View | 5 | 140025247 | 140025247 | C > - | NDUFA2 NDUFA2 NDUFA2 |
NM_001185012.1:c.*41del NR_033697.1:n.547del NM_002488.4:c.225del |
NP_002479.1:p.Asn76MetfsTer4 |
2/6213 | 0.00016 | 1 | Uncertain Significance | |

View | 5 | 140955835 | 140955835 | C > T | DIAPH1 DIAPH1 |
NM_001079812.2:c.1396G>A NM_005219.4:c.1423G>A |
NP_001073280.1:p.Glu466Lys NP_005210.3:p.Glu475Lys |
14/6213 | 0.00113 | 3 | non_synonymous | Uncertain Significance |

View | 5 | 145252312 | 145252312 | G > C | GRXCR2 |
NM_001080516.1:c.220C>G |
NP_001073985.1:p.Gln74Glu |
21/6213 | 0.00169 | 3 | non_synonymous | Uncertain Significance |

View | 5 | 161309544 | 161309544 | T > C | GABRA1 GABRA1 GABRA1 GABRA1 GABRA1 |
NM_001127648.1:c.560-20T>C NM_001127643.1:c.560-20T>C NM_000806.5:c.560-20T>C NM_001127645.1:c.560-20T>C NM_001127644.1:c.560-20T>C |
2/6174 | 0.00016 | 3 | three_prime_flank | Uncertain Significance | |

View | 5 | 172660191 | 172660191 | G > A | NKX2-5 NKX2-5 NKX2-5 |
NM_001166176.1:c.*155C>T NM_004387.3:c.356C>T NM_001166175.1:c.*309C>T |
NP_004378.1:p.Ala119Val |
1/6213 | 8.0e-05 | 3 | Uncertain Significance | |

View | 5 | 172662026 | 172662026 | C > G | NKX2-5 NKX2-5 NKX2-5 |
NM_001166176.1:c.61G>C NM_004387.3:c.61G>C NM_001166175.1:c.61G>C |
NP_001159648.1:p.Glu21Gln NP_004378.1:p.Glu21Gln NP_001159647.1:p.Glu21Gln |
4/6213 | 0.00032 | 3 | Uncertain Significance | |

View | 5 | 176722122 | 176722122 | G > A | NSD1 NSD1 |
NM_022455.4:c.7753G>A NM_172349.2:c.6946G>A |
NP_071900.2:p.Gly2585Arg NP_758859.1:p.Gly2316Arg |
2/6865 | 0.00015 | 3 | non_synonymous | Uncertain Significance |

View | 5 | 177580652 | 177580652 | G > A | NHP2 NHP2 |
NM_017838.3:c.160+7C>T NM_001034833.1:c.160+7C>T |
2/6213 | 0.00016 | 3 | five_prime_intronic | Uncertain Significance | |

View | 6 | 5545481 | 5545481 | G > A | FARS2 |
NM_006567.3:c.973G>A |
NP_006558.1:p.Asp325Asn |
1/6213 | 8.0e-05 | 3 | Uncertain Significance | |

View | 6 | 10404967 | 10404967 | C > T | TFAP2A TFAP2A TFAP2A |
NM_001032280.2:c.520G>A NM_001042425.1:c.526G>A NM_003220.2:c.538G>A |
NP_001027451.1:p.Val174Met NP_001035890.1:p.Val176Met NP_003211.1:p.Val180Met |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 12294621 | 12294621 | C > A | EDN1 EDN1 |
NM_001168319.1:c.514C>A NM_001955.4:c.517C>A |
NP_001161791.1:p.His172Asn NP_001946.3:p.His173Asn |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 24520719 | 24520719 | G > A | ALDH5A1 ALDH5A1 |
NM_001080.3:c.961G>A NM_170740.1:c.1000G>A |
NP_001071.1:p.Val321Met NP_733936.1:p.Val334Met |
102/8223 | 0.0062 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 24533753 | 24533753 | A > C | ALDH5A1 ALDH5A1 |
NM_001080.3:c.1421A>C NM_170740.1:c.1460A>C |
NP_001071.1:p.Asp474Ala NP_733936.1:p.Asp487Ala |
4/8223 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 24533806 | 24533806 | G > A | ALDH5A1 ALDH5A1 |
NM_001080.3:c.1474G>A NM_170740.1:c.1513G>A |
NP_001071.1:p.Val492Ile NP_733936.1:p.Val505Ile |
4/8223 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 30889393 | 30889393 | C > T | VARS2 VARS2 VARS2 |
NM_001167733.1:c.1240C>T NM_020442.4:c.1660C>T NM_001167734.1:c.1750C>T |
NP_001161205.1:p.Arg414Trp NP_065175.4:p.Arg554Trp NP_001161206.1:p.Arg584Trp |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 30892215 | 30892215 | C > T | VARS2 VARS2 VARS2 |
NM_001167733.1:c.2131C>T NM_020442.4:c.2551C>T NM_001167734.1:c.2641C>T |
NP_001161205.1:p.Arg711Cys NP_065175.4:p.Arg851Cys NP_001161206.1:p.Arg881Cys |
9/6213 | 0.00072 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 30893054 | 30893054 | C > T | VARS2 VARS2 VARS2 |
NM_001167733.1:c.2257C>T NM_020442.4:c.2677C>T NM_001167734.1:c.2767C>T |
NP_001161205.1:p.His753Tyr NP_065175.4:p.His893Tyr NP_001161206.1:p.His923Tyr |
3/6213 | 0.00024 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 31929813 | 31929813 | C > A | SKIV2L |
NM_006929.4:c.1046C>A |
NP_008860.4:p.Ala349Asp |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 32052414 | 32052414 | G > T | TNXB |
NM_019105.6:c.3221C>A |
NP_061978.6:p.Thr1074Asn |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 32064529 | 32064529 | G > C | TNXB |
NM_019105.6:c.1101C>G |
NP_061978.6:p.Asp367Glu |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 33143432 | 33143432 | C > A | COL11A2 COL11A2 COL11A2 |
NM_080681.2:c.2037G>T NM_080680.2:c.2295G>T NM_080679.2:c.1974G>T |
NP_542412.2:p.Arg679Ser NP_542411.2:p.Arg765Ser NP_542410.2:p.Arg658Ser |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 33152761 | 33152761 | A > G | COL11A2 COL11A2 COL11A2 |
NM_080681.2:c.861+8T>C NM_080680.2:c.939+8T>C NM_080679.2:c.798+1643T>C |
2/6213 | 0.00016 | 3 | five_prime_intronic | Uncertain Significance | |

View | 6 | 42941790 | 42941790 | T > C | PEX6 |
NM_000287.3:c.1081A>G |
NP_000278.3:p.Thr361Ala |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 43005647 | 43005647 | G > C | CUL7 CUL7 |
NM_014780.4:c.4876C>G NM_001168370.1:c.5128C>G |
NP_055595.2:p.Leu1626Val NP_001161842.1:p.Leu1710Val |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 43010695 | 43010695 | G > A | CUL7 CUL7 |
NM_014780.4:c.3490C>T NM_001168370.1:c.3742C>T |
NP_055595.2:p.Arg1164Trp NP_001161842.1:p.Arg1248Trp |
9/6213 | 0.00072 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 44268392 | 44268392 | C > A | AARS2 |
ENST00000244571.4:c.2850G>T |
ENSP00000244571.4:p.Met950Ile |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 44268985 | 44268985 | G > A | AARS2 |
ENST00000244571.4:c.2701C>T |
ENSP00000244571.4:p.Arg901Trp |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 44278106 | 44278106 | G > A | AARS2 |
ENST00000244571.4:c.824C>T |
ENSP00000244571.4:p.Ala275Val |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 49423826 | 49423826 | T > C | MUT |
NM_000255.3:c.878A>G |
NP_000246.2:p.Gln293Arg |
7/8004 | 0.00044 | 3 | Uncertain Significance | |

View | 6 | 49423923 | 49423923 | T > C | MUT |
NM_000255.3:c.781A>G |
NP_000246.2:p.Ile261Val |
2/8004 | 0.00012 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 49426975 | 49426975 | T > C | MUT |
NM_000255.3:c.205A>G |
NP_000246.2:p.Ile69Val |
49/8004 | 0.00306 | 3 | Uncertain Significance | |

View | 6 | 51613152 | 51613152 | C > T | PKHD1 PKHD1 |
NM_138694.3:c.9262G>A NM_170724.2:c.9262G>A |
NP_619639.3:p.Asp3088Asn NP_733842.2:p.Asp3088Asn |
5/8004 | 0.00031 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 51768795 | 51768795 | C > T | PKHD1 PKHD1 |
NM_138694.3:c.6854G>A NM_170724.2:c.6854G>A |
NP_619639.3:p.Gly2285Glu NP_733842.2:p.Gly2285Glu |
21/8004 | 0.00131 | 3 | Uncertain Significance | |

View | 6 | 51776625 | 51776625 | A > C | PKHD1 PKHD1 |
NM_138694.3:c.6462T>G NM_170724.2:c.6462T>G |
NP_619639.3:p.Val2154= NP_733842.2:p.Val2154= |
1/8004 | 6.0e-05 | 3 | Uncertain Significance | |

View | 6 | 51900495 | 51900495 | C > T | PKHD1 PKHD1 |
NM_138694.3:c.3122G>A NM_170724.2:c.3122G>A |
NP_619639.3:p.Gly1041Asp NP_733842.2:p.Gly1041Asp |
1/8004 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 56507565 | 56507565 | A > - | DST DST DST DST DST |
NM_001144769.2:c.1680-264del NM_001144770.1:c.1266-264del NM_001723.5:c.22del NM_183380.3:c.1146-264del NM_015548.4:c.22del |
NP_001714.1:p.Tyr8ThrfsTer33 NP_056363.2:p.Tyr8ThrfsTer33 |
7/6213 | 0.00056 | 2 | frameshift | Uncertain Significance |

View | 6 | 70944597 | 70944597 | C > T | COL9A1 COL9A1 |
NM_078485.3:c.1430G>A NM_001851.4:c.2159G>A |
NP_511040.2:p.Arg477Gln NP_001842.3:p.Arg720Gln |
4/6213 | 0.00032 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 73904881 | 73904881 | G > A | KCNQ5 KCNQ5 KCNQ5 KCNQ5 KCNQ5 |
NM_001160133.1:c.2600G>A NM_001160134.1:c.2213G>A NM_001160130.1:c.2516G>A NM_001160132.1:c.2573G>A NM_019842.3:c.2543G>A |
NP_001153605.1:p.Gly867Glu NP_001153606.1:p.Gly738Glu NP_001153602.1:p.Gly839Glu NP_001153604.1:p.Gly858Glu NP_062816.2:p.Gly848Glu |
2/6213 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 74310100 | 74310100 | C > T | SLC17A5 |
NM_012434.4:c.1324G>A |
NP_036566.1:p.Val442Ile |
10/8004 | 0.00062 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 74331606 | 74331606 | G > A | SLC17A5 |
NM_012434.4:c.899C>T |
NP_036566.1:p.Ser300Phe |
34/8004 | 0.00212 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 80635908 | 80635908 | T > C | ELOVL4 |
NM_022726.3:c.288+3A>G |
2/6213 | 0.00016 | 3 | five_prime_flank | Uncertain Significance | |

View | 6 | 83881667 | 83881667 | G > T | PGM3 PGM3 PGM3 PGM3 |
NM_001199917.1:c.1438C>A NM_001199919.1:c.1354C>A NM_015599.2:c.1354C>A NM_001199918.1:c.1111C>A |
NP_001186846.1:p.Leu480Ile NP_001186848.1:p.Leu452Ile NP_056414.1:p.Leu452Ile NP_001186847.1:p.Leu371Ile |
9/6213 | 0.00072 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 88187196 | 88187196 | A > G | SLC35A1 SLC35A1 |
NM_006416.4:c.133A>G NM_001168398.1:c.133A>G |
NP_006407.1:p.Thr45Ala NP_001161870.1:p.Thr45Ala |
47/8004 | 0.00294 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 97345677 | 97345677 | T > C | NDUFAF4 |
NM_014165.3:c.1A>G |
NP_054884.1:p.Met1? |
3/8004 | 0.00019 | 3 | loss_of_initiation | Uncertain Significance |

View | 6 | 117245882 | 117245882 | A > G | RFX6 |
NM_173560.3:c.1606A>G |
NP_775831.2:p.Met536Val |
1/6213 | 8.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 6 | 129470136 | 129470136 | G > A | LAMA2 |
ENST00000421865.2:c.922G>A |
ENSP00000400365.2:p.Glu308Lys |
32/8004 | 0.002 | 3 | non_synonymous | Uncertain Significance |