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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 | 45827853 | 45827855 | CTT > - | SLC35C1 |
NM_001145265.1:c.464_466del NM_018389.4:c.503_505del NM_001145266.1:c.464_466del |
NP_001138737.1:p.Phe155del NP_060859.4:p.Phe168del NP_001138738.1:p.Phe155del |
7/6913 | 0.00051 | 3 | Uncertain Significance | |

View | 11 | 62459866 | 62459866 | G > A | BSCL2 HNRNPUL2-BSCL2 |
NM_032667.6:c.653C>T NR_037949.1:n.1447C>T NR_037946.1:n.3365C>T NM_001130702.2:c.653C>T NM_001122955.3:c.845C>T NR_037948.1:n.1447C>T |
NP_116056.3:p.Ala218Val NP_001124174.2:p.Ala218Val NP_001116427.1:p.Ala282Val |
14/5119 | 0.00137 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 65487792 | 65487792 | T > A | RNASEH2C |
NM_032193.3:c.269A>T |
NP_115569.2:p.Lys90Met |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 65487793 | 65487793 | T > C | RNASEH2C |
NM_032193.3:c.268A>G |
NP_115569.2:p.Lys90Glu |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66113701 | 66113701 | A > G | B4GAT1 |
NM_006876.2:c.1067T>C |
NP_006867.1:p.Leu356Pro |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66282033 | 66282033 | C > G | BBS1 |
NM_024649.4:c.316C>G |
NP_078925.3:p.Leu106Val |
5/5119 | 0.00049 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66293661 | 66293661 | G > A | BBS1 |
NM_024649.4:c.1178G>A |
NP_078925.3:p.Arg393Gln |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66616478 | 66616478 | C > A | PC |
NM_000920.3:c.3429G>T NM_022172.2:c.3429G>T NM_001040716.1:c.3429G>T |
NP_000911.2:p.Met1143Ile NP_071504.2:p.Met1143Ile NP_001035806.1:p.Met1143Ile |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66617122 | 66617122 | C > T | PC |
NM_000920.3:c.3107G>A NM_022172.2:c.3107G>A NM_001040716.1:c.3107G>A |
NP_000911.2:p.Arg1036His NP_071504.2:p.Arg1036His NP_001035806.1:p.Arg1036His |
19/6913 | 0.00137 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66631259 | 66631259 | C > T | PC |
NM_000920.3:c.1354G>A NM_022172.2:c.1354G>A NM_001040716.1:c.1354G>A |
NP_000911.2:p.Val452Ile NP_071504.2:p.Val452Ile NP_001035806.1:p.Val452Ile |
5/6913 | 0.00036 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 66633650 | 66633653 | CCGC > - | PC |
NM_000920.3:c.1185+5_1185+8del NM_022172.2:c.1185+5_1185+8del NM_001040716.1:c.1185+5_1185+8del |
6/6913 | 0.00043 | 3 | five_prime_flank | Uncertain Significance | |

View | 11 | 67763325 | 67763325 | G > C | UNC93B1 |
NM_030930.2:c.1119C>G |
NP_112192.2:p.Ser373Arg |
12/6913 | 0.00087 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 67800683 | 67800683 | G > A | NDUFS8 |
NM_002496.3:c.305G>A |
NP_002487.1:p.Arg102His |
4/6913 | 0.00029 | 3 | Uncertain Significance | |

View | 11 | 67814983 | 67814983 | G > A | TCIRG1 |
ENST00000265686.3:c.1249G>A ENST00000532635.1:c.601G>A |
ENSP00000265686.3:p.Ala417Thr ENSP00000434407.1:p.Ala201Thr |
61/6913 | 0.00441 | 3 | Uncertain Significance | |

View | 11 | 68566781 | 68566781 | T > C | CPT1A |
ENST00000376618.2:c.598A>G ENST00000265641.5:c.598A>G |
ENSP00000365803.2:p.Lys200Glu ENSP00000265641.4:p.Lys200Glu |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 68566822 | 68566822 | T > C | CPT1A |
ENST00000376618.2:c.557A>G ENST00000265641.5:c.557A>G |
ENSP00000365803.2:p.Tyr186Cys ENSP00000265641.4:p.Tyr186Cys |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 68678898 | 68678898 | T > G | IGHMBP2 |
NM_002180.2:c.548-10T>G |
15/6913 | 0.00108 | 3 | polypyrimidine_tract | Uncertain Significance | |

View | 11 | 68703821 | 68703821 | A > G | IGHMBP2 |
NM_002180.2:c.1873A>G |
NP_002171.2:p.Thr625Ala |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 68704308 | 68704308 | C > T | IGHMBP2 |
NM_002180.2:c.2360C>T |
NP_002171.2:p.Pro787Leu |
8/6913 | 0.00058 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 71150037 | 71150037 | T > C | DHCR7 |
NM_001163817.1:c.719A>G NM_001360.2:c.719A>G |
NP_001157289.1:p.Asn240Ser NP_001351.2:p.Asn240Ser |
6/6913 | 0.00051 | 3 | Uncertain Significance | |

View | 11 | 71906793 | 71906793 | T > C | FOLR1 |
NM_000802.3:c.493+2T>C NM_016724.2:c.493+2T>C NM_016725.2:c.493+2T>C NM_016729.2:c.493+2T>C |
39/6913 | 0.00289 | 1 | Uncertain Significance | ||

View | 11 | 76903237 | 76903237 | A > T | MYO7A |
NM_001127180.1:c.4066A>T NM_000260.3:c.4066A>T |
NP_001120652.1:p.Ser1356Cys NP_000251.3:p.Ser1356Cys |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 78277185 | 78277185 | A > T | NARS2 |
NM_024678.5:c.506T>A NM_001243251.1:c.-176T>A |
NP_078954.4:p.Phe169Tyr |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 78285487 | 78285487 | G > A | NARS2 |
NM_024678.5:c.47C>T NM_001243251.1:c.-541+387C>T |
NP_078954.4:p.Ser16Phe |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 103153798 | 103153798 | C > T | DYNC2H1 |
NM_001377.2:c.10874C>T NM_001080463.1:c.10895C>T |
NP_001368.2:p.Ala3625Val NP_001073932.1:p.Ala3632Val |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 108018032 | 108018039 | ATGCCTTG > - | ACAT1 |
NM_000019.3:c.1200_1207del |
NP_000010.1:p.His400GlnfsTer57 |
2/6913 | 0.00014 | 2 | frameshift | Uncertain Significance |

View | 11 | 108180945 | 108180945 | G > C | ATM |
ENST00000278616.4:c.5821G>C |
ENSP00000278616.4:p.Val1941Leu |
7/6913 | 0.00051 | 3 | Uncertain Significance | |

View | 11 | 108206648 | 108206648 | C > T | ATM |
ENST00000278616.4:c.8228C>T |
ENSP00000278616.4:p.Thr2743Met |
7/6913 | 0.00051 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 111657193 | 111657193 | A > G | ALG9 |
NM_024740.2:c.1786T>C NM_001077691.1:c.1272T>C NM_001077692.1:c.1251T>C NM_001077690.1:c.1765T>C |
NP_079016.2:p.Tyr596His NM_001077691.1:c.1272T>C(p.%3D) NM_001077692.1:c.1251T>C(p.%3D) NP_001071158.1:p.Tyr589His |
1/6913 | 7.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 111708280 | 111708280 | G > A | ALG9 |
NM_024740.2:c.1384C>T NM_001077691.1:c.870C>T NM_001077692.1:c.849C>T NM_001077690.1:c.1363C>T |
NP_079016.2:p.His462Tyr NM_001077691.1:c.870C>T(p.%3D) NM_001077692.1:c.849C>T(p.%3D) NP_001071158.1:p.His455Tyr |
122/6913 | 0.00882 | 4 | non_synonymous | Uncertain Significance |

View | 11 | 111742157 | 111742157 | C > G | ALG9 |
NM_024740.2:c.50G>C NM_001077690.1:c.50G>C |
NP_079016.2:p.Ser17Thr NP_001071158.1:p.Ser17Thr |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 118344855 | 118344857 | CTT > - | KMT2A |
NM_001197104.1:c.2982_2984del NM_005933.3:c.2982_2984del |
NP_001184033.1:p.Ser997del NP_005924.2:p.Ser997del |
2/5119 | 0.0002 | 3 | in_frame_indel | Uncertain Significance |

View | 11 | 118373128 | 118373128 | C > T | KMT2A |
NM_001197104.1:c.6521C>T NM_005933.3:c.6512C>T |
NP_001184033.1:p.Thr2174Ile NP_005924.2:p.Thr2171Ile |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 118972241 | 118972241 | C > T | DPAGT1 |
NM_001382.3:c.125G>A |
NP_001373.2:p.Cys42Tyr |
12/6913 | 0.00087 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 119077252 | 119077252 | A > T | CBL |
NM_005188.3:c.125A>T |
NP_005179.2:p.His42Leu |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 121039395 | 121039395 | C > A | TECTA |
NM_005422.2:c.5760C>A |
NP_005413.2:p.Asn1920Lys |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 126145709 | 126145709 | C > T | FOXRED1 |
NM_017547.3:c.754C>T NR_037648.1:n.940C>T NR_037647.1:n.700C>T |
NP_060017.1:p.Arg252Cys |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 126215285 | 126215285 | G > A | DCPS ST3GAL4-AS1 |
NM_014026.3:c.791G>A NR_033839.1:n.147-3068C>T |
NP_054745.1:p.Arg264Gln |
14/5119 | 0.00137 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 128709105 | 128709105 | T > C | KCNJ1 |
NM_000220.4:c.1091A>G NM_153765.2:c.1085A>G NM_153764.2:c.1034A>G NM_153766.2:c.1034A>G NM_153767.3:c.1034A>G |
NP_000211.1:p.Asp364Gly NP_722449.3:p.Asp362Gly NP_722448.1:p.Asp345Gly NP_722450.1:p.Asp345Gly NP_722451.1:p.Asp345Gly |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 11 | 128709959 | 128709959 | G > A | KCNJ1 |
NM_000220.4:c.237C>T NM_153765.2:c.231C>T NM_153764.2:c.180C>T NM_153766.2:c.180C>T NM_153767.3:c.180C>T |
NM_000220.4:c.237C>T(p.%3D) NM_153765.2:c.231C>T(p.%3D) NM_153764.2:c.180C>T(p.%3D) NM_153766.2:c.180C>T(p.%3D) NM_153767.3:c.180C>T(p.%3D) |
2/6913 | 0.00014 | 3 | Uncertain Significance | |

View | 12 | 4764023 | 4764023 | C > T | NDUFA9 |
NM_005002.4:c.253C>T |
NP_004993.1:p.Arg85Trp |
3/5119 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 7356150 | 7356150 | G > A | PEX5 |
NM_000319.4:c.942+3G>A NM_001131024.1:c.855+3G>A NM_001131025.1:c.966+3G>A NM_001131026.1:c.966+3G>A NM_001131023.1:c.1011+3G>A |
4/6913 | 0.00029 | 3 | five_prime_flank | Uncertain Significance | |

View | 12 | 13716179 | 13716179 | C > T | GRIN2B |
NM_000834.3:c.3993G>A |
NP_000825.2:p.Met1331Ile |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 14778781 | 14778781 | C > T | GUCY2C |
NM_004963.3:c.2318G>A |
NP_004954.2:p.Arg773Gln |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 14834395 | 14834395 | C > T | GUCY2C |
NM_004963.3:c.628G>A |
NP_004954.2:p.Glu210Lys |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 15037817 | 15037817 | C > G | MGP |
NM_000900.3:c.62-638G>C NM_001190839.1:c.66G>C |
NP_001177768.1:p.Glu22Asp |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 21008031 | 21008031 | A > G | SLCO1B3 |
ENST00000381545.3:c.154A>G |
ENSP00000370956.3:p.Ile52Val |
9/5400 | 0.00083 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 21715958 | 21715958 | T > A | GYS2 |
NM_021957.3:c.956A>T |
NP_068776.2:p.Asp319Val |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 12 | 31244719 | 31244724 | CAGGAC > - | DDX11 |
NM_004399.2:c.1160_1165del NM_001257145.1:c.1082_1087del NM_030653.3:c.1160_1165del NM_001257144.1:c.1160_1165del NM_152438.1:c.1160_1165del |
NP_004390.3:p.Asp387_Gln388del NP_001244074.1:p.Asp361_Gln362del NP_085911.2:p.Asp387_Gln388del NP_001244073.1:p.Asp387_Gln388del NP_689651.1:p.Asp387_Gln388del |
2/5119 | 0.0002 | 3 | in_frame_indel | Uncertain Significance |

View | 12 | 31249572 | 31249572 | T > G | DDX11 |
NM_004399.2:c.1523T>G NM_001257145.1:c.1445T>G NM_030653.3:c.1523T>G NM_152438.1:c.1523T>G NM_001257144.1:c.1523T>G |
NP_004390.3:p.Leu508Arg NP_001244074.1:p.Leu482Arg NP_085911.2:p.Leu508Arg NP_689651.1:p.Leu508Arg NP_001244073.1:p.Leu508Arg |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |