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

View | 11 | 76903237 | 76903237 | A > T | MYO7A MYO7A |
NM_000260.3:c.4066A>T NM_001127180.1:c.4066A>T |
NP_000251.3:p.Ser1356Cys NP_001120652.1:p.Ser1356Cys |
1/8745 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 78277185 | 78277185 | A > T | NARS2 NARS2 |
NM_024678.5:c.506T>A NM_001243251.1:c.-176T>A |
NP_078954.4:p.Phe169Tyr |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 78285487 | 78285487 | G > A | NARS2 NARS2 |
NM_024678.5:c.47C>T NM_001243251.1:c.-541+387C>T |
NP_078954.4:p.Ser16Phe |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 103153798 | 103153798 | C > T | DYNC2H1 DYNC2H1 |
NM_001080463.1:c.10895C>T NM_001377.2:c.10874C>T |
NP_001073932.1:p.Ala3632Val NP_001368.2:p.Ala3625Val |
2/8745 | 0.00011 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 108018032 | 108018039 | ATGCCTTG > - | ACAT1 |
NM_000019.3:c.1200_1207del |
NP_000010.1:p.His400GlnfsTer57 |
2/8745 | 0.00011 | 2 | frameshift | Uncertain Significance |

View | 11 | 108180945 | 108180945 | G > C | ATM |
ENST00000278616.4:c.5821G>C |
ENSP00000278616.4:p.Val1941Leu |
7/8745 | 0.0004 | 3 | Uncertain Significance | |

View | 11 | 108206648 | 108206648 | C > T | ATM |
ENST00000278616.4:c.8228C>T |
ENSP00000278616.4:p.Thr2743Met |
7/8745 | 0.0004 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 111657193 | 111657193 | A > G | ALG9 ALG9 ALG9 ALG9 |
ENST00000531154.1:c.1272T>C NM_001077691.1:c.1272T>C NM_001077692.1:c.1251T>C ENST00000398006.2:c.1251T>C |
ENSP00000435517.1:p.Tyr424= NP_001071159.1:p.Tyr424= NP_001071160.1:p.Tyr417= ENSP00000381090.2:p.Tyr417= |
1/8745 | 6.0e-05 | 4 | synonymous | Uncertain Significance |

View | 11 | 111708280 | 111708280 | G > A | ALG9 ALG9 ALG9 ALG9 |
ENST00000531154.1:c.870C>T NM_001077691.1:c.870C>T NM_001077692.1:c.849C>T ENST00000398006.2:c.849C>T |
ENSP00000435517.1:p.Thr290= NP_001071159.1:p.Thr290= NP_001071160.1:p.Thr283= ENSP00000381090.2:p.Thr283= |
146/8745 | 0.00835 | 4 | synonymous | Uncertain Significance |

View | 11 | 111742157 | 111742157 | C > G | 2/8745 | 0.00011 | 4 | Uncertain Significance | ||||

View | 11 | 118221410 | 118221410 | C > T | CD3G |
NM_000073.2:c.439+12C>T |
5/8706 | 0.00029 | 3 | five_prime_intronic | Uncertain Significance | |

View | 11 | 118344855 | 118344857 | CTT > - | KMT2A KMT2A |
NM_001197104.1:c.2982_2984del NM_005933.3:c.2982_2984del |
NP_001184033.1:p.Ser997del NP_005924.2:p.Ser997del |
2/6955 | 0.00014 | 3 | in_frame_indel | Uncertain Significance |

View | 11 | 118373128 | 118373128 | C > T | KMT2A KMT2A |
NM_001197104.1:c.6521C>T NM_005933.3:c.6512C>T |
NP_001184033.1:p.Thr2174Ile NP_005924.2:p.Thr2171Ile |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 118390503 | 118390503 | C > T | KMT2A KMT2A |
NM_001197104.1:c.11317C>T NM_005933.3:c.11308C>T |
NP_001184033.1:p.Leu3773Phe NP_005924.2:p.Leu3770Phe |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 118461060 | 118461060 | C > T | ARCN1 ARCN1 |
NM_001142281.1:c.559C>T NM_001655.4:c.823C>T |
NP_001135753.1:p.His187Tyr NP_001646.2:p.His275Tyr |
1/6916 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 118972241 | 118972241 | C > T | DPAGT1 |
NM_001382.3:c.125G>A |
NP_001373.2:p.Cys42Tyr |
13/8745 | 0.00074 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 119077252 | 119077252 | A > T | CBL |
NM_005188.3:c.125A>T |
NP_005179.2:p.His42Leu |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 119216836 | 119216836 | C > T | MFRP C1QTNF5 |
NM_031433.3:c.191G>A NM_015645.4:c.-2446G>A |
NP_113621.1:p.Arg64His |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 121016463 | 121016463 | C > T | TECTA |
NM_005422.2:c.3743C>T |
NP_005413.2:p.Pro1248Leu |
10/6955 | 0.00072 | 3 | Uncertain Significance | |

View | 11 | 121039395 | 121039395 | C > A | TECTA |
NM_005422.2:c.5760C>A |
NP_005413.2:p.Asn1920Lys |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 126145709 | 126145709 | C > T | FOXRED1 FOXRED1 FOXRED1 |
NM_017547.3:c.754C>T NR_037648.1:n.940C>T NR_037647.1:n.700C>T |
NP_060017.1:p.Arg252Cys |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 126215285 | 126215285 | G > A | DCPS GSEC |
ENST00000263579.4:c.791G>A NR_033839.1:n.147-3068C>T |
ENSP00000263579.4:p.Arg264Gln |
15/6955 | 0.00108 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 126294582 | 126294582 | C > G | KIRREL3 |
NM_032531.3:c.2230G>C |
NP_115920.1:p.Asp744His |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 128709105 | 128709105 | T > C | KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 |
NM_000220.4:c.1091A>G NM_153767.3:c.1034A>G NM_153766.2:c.1034A>G NM_153764.2:c.1034A>G NM_153765.2:c.1085A>G |
NP_000211.1:p.Asp364Gly NP_722451.1:p.Asp345Gly NP_722450.1:p.Asp345Gly NP_722448.1:p.Asp345Gly NP_722449.3:p.Asp362Gly |
4/8745 | 0.00023 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 128709959 | 128709959 | G > A | KCNJ1 KCNJ1 KCNJ1 KCNJ1 KCNJ1 |
NM_000220.4:c.237C>T NM_153767.3:c.180C>T NM_153766.2:c.180C>T NM_153764.2:c.180C>T NM_153765.2:c.231C>T |
NP_000211.1:p.Tyr79= NP_722451.1:p.Tyr60= NP_722450.1:p.Tyr60= NP_722448.1:p.Tyr60= NP_722449.3:p.Tyr77= |
3/8745 | 0.00017 | 3 | Uncertain Significance | |

View | 12 | 4764023 | 4764023 | C > T | NDUFA9 |
NM_005002.4:c.253C>T |
NP_004993.1:p.Arg85Trp |
5/6955 | 0.00036 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 7354874 | 7354874 | T > C | PEX5 PEX5 PEX5 PEX5 PEX5 |
NM_001131026.1:c.680T>C NM_001131025.1:c.680T>C NM_000319.4:c.680T>C NM_001131024.1:c.643-334T>C NM_001131023.1:c.725T>C |
NP_001124498.1:p.Val227Ala NP_001124497.1:p.Val227Ala NP_000310.2:p.Val227Ala NP_001124495.1:p.Val242Ala |
1/8745 | 6.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 7356150 | 7356150 | G > A | PEX5 PEX5 PEX5 PEX5 PEX5 |
NM_001131026.1:c.966+3G>A NM_001131025.1:c.966+3G>A NM_000319.4:c.942+3G>A NM_001131024.1:c.855+3G>A NM_001131023.1:c.1011+3G>A |
4/8745 | 0.00023 | 3 | five_prime_flank | Uncertain Significance | |

View | 12 | 13716179 | 13716179 | C > T | GRIN2B |
NM_000834.3:c.3993G>A |
NP_000825.2:p.Met1331Ile |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 14778781 | 14778781 | C > T | GUCY2C |
NM_004963.3:c.2318G>A |
NP_004954.2:p.Arg773Gln |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 14834395 | 14834395 | C > T | GUCY2C |
NM_004963.3:c.628G>A |
NP_004954.2:p.Glu210Lys |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 15037817 | 15037817 | C > G | MGP MGP |
NM_001190839.1:c.66G>C NM_000900.3:c.62-638G>C |
NP_001177768.1:p.Glu22Asp |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 21008031 | 21008031 | A > G | SLCO1B3 |
ENST00000381545.3:c.154A>G |
ENSP00000370956.3:p.Ile52Val |
13/7355 | 0.00088 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 21715958 | 21715958 | T > A | GYS2 |
NM_021957.3:c.956A>T |
NP_068776.2:p.Asp319Val |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 31244719 | 31244724 | CAGGAC > - | DDX11 DDX11 DDX11 DDX11 DDX11 |
NM_004399.2:c.1160_1165del NM_001257145.1:c.1082_1087del NM_001257144.1:c.1160_1165del NM_030653.3:c.1160_1165del NM_152438.1:c.1160_1165del |
NP_004390.3:p.Asp387_Gln388del NP_001244074.1:p.Asp361_Gln362del NP_001244073.1:p.Asp387_Gln388del NP_085911.2:p.Asp387_Gln388del NP_689651.1:p.Asp387_Gln388del |
2/6955 | 0.00014 | 3 | in_frame_indel | Uncertain Significance |

View | 12 | 31249572 | 31249572 | T > G | DDX11 DDX11 DDX11 DDX11 DDX11 |
NM_004399.2:c.1523T>G NM_001257145.1:c.1445T>G NM_001257144.1:c.1523T>G NM_030653.3:c.1523T>G NM_152438.1:c.1523T>G |
NP_004390.3:p.Leu508Arg NP_001244074.1:p.Leu482Arg NP_001244073.1:p.Leu508Arg NP_085911.2:p.Leu508Arg NP_689651.1:p.Leu508Arg |
2/6955 | 0.00014 | 1 | Uncertain Significance | |

View | 12 | 32777929 | 32777929 | A > G | FGD4 |
NM_139241.2:c.1562A>G |
NP_640334.2:p.Asp521Gly |
8/8745 | 0.00046 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 32900298 | 32900299 | - > T | YARS2 |
NM_001040436.2:c.1275-2dupA |
22/6955 | 0.00158 | 2 | acceptor_site | Uncertain Significance | |

View | 12 | 42854070 | 42854070 | T > G | PRICKLE1 PRICKLE1 PRICKLE1 PRICKLE1 |
NM_001144882.1:c.2037A>C NM_001144881.1:c.2037A>C NM_001144883.1:c.2037A>C NM_153026.2:c.2037A>C |
NP_001138354.1:p.Arg679Ser NP_001138353.1:p.Arg679Ser NP_001138355.1:p.Arg679Ser NP_694571.2:p.Arg679Ser |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49425854 | 49425854 | G > A | KMT2D |
NM_003482.3:c.12634C>T |
NP_003473.3:p.Arg4212Trp |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49427210 | 49427210 | C > T | KMT2D |
NM_003482.3:c.11278G>A |
NP_003473.3:p.Gly3760Ser |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49428255 | 49428255 | C > T | KMT2D |
NM_003482.3:c.10445G>A |
NP_003473.3:p.Arg3482Gln |
3/6955 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49428389 | 49428389 | G > C | KMT2D |
NM_003482.3:c.10416C>G |
NP_003473.3:p.Asn3472Lys |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49430947 | 49430947 | T > G | KMT2D |
NM_003482.3:c.10192A>C |
NP_003473.3:p.Met3398Leu |
9/6955 | 0.00065 | 1 | Uncertain Significance | |

View | 12 | 49431477 | 49431477 | G > T | KMT2D |
NM_003482.3:c.9662C>A |
NP_003473.3:p.Thr3221Asn |
4/6955 | 0.00029 | 4 | non_synonymous | Uncertain Significance |

View | 12 | 49432561 | 49432561 | G > A | KMT2D |
NM_003482.3:c.8578C>T |
NP_003473.3:p.Arg2860Cys |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49434324 | 49434324 | C > T | KMT2D |
NM_003482.3:c.7229G>A |
NP_003473.3:p.Arg2410Gln |
1/6955 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49434522 | 49434522 | C > T | KMT2D |
NM_003482.3:c.7031G>A |
NP_003473.3:p.Gly2344Asp |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 49440056 | 49440056 | G > A | KMT2D |
NM_003482.3:c.4570C>T |
NP_003473.3:p.Arg1524Cys |
4/6955 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 51072543 | 51072543 | G > C | DIP2B |
NM_173602.2:c.998G>C |
NP_775873.2:p.Cys333Ser |
2/6955 | 0.00014 | 3 | non_synonymous | Uncertain Significance |