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

View | X | 152959900 | 152959900 | C > T | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1494C>T NM_001142805.1:c.1464C>T NM_001142806.1:c.1149C>T |
NP_005620.1:p.Tyr498= NP_001136277.1:p.Tyr488= NP_001136278.1:p.Tyr383= |
66/11422 | 0.00376 | 5 | five_prime_exonic | Benign |

View | X | 152959980 | 152959980 | C > T | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.1496-8C>T NM_001142805.1:c.1466-8C>T NM_001142806.1:c.1151-8C>T |
17/11422 | 0.00088 | 5 | Benign | ||

View | X | 152969508 | 152969508 | G > A | BCAP31 BCAP31 BCAP31 BCAP31 |
NM_001256447.1:c.383C>T NM_005745.7:c.383C>T NM_001139441.1:c.383C>T NM_001139457.2:c.584C>T |
NP_001243376.1:p.Thr128Met NP_005736.3:p.Thr128Met NP_001132913.1:p.Thr128Met NP_001132929.1:p.Thr195Met |
32/9594 | 0.00224 | 5 | non_synonymous | Benign |

View | X | 152990759 | 152990759 | A > C | ABCD1 |
NM_000033.3:c.38A>C |
NP_000024.2:p.Asn13Thr |
32/11422 | 0.00179 | 5 | non_synonymous | Benign |

View | X | 153070670 | 153070670 | G > C | PDZD4 |
NM_032512.2:c.652-8C>G |
14/9555 | 0.00084 | 5 | polypyrimidine_tract | Benign | |

View | X | 153130543 | 153130543 | G > C | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.2857C>G NM_001278116.1:c.2872C>G NM_000425.4:c.2872C>G NM_024003.3:c.2872C>G |
NP_001137435.1:p.Leu953Val NP_001265045.1:p.Leu958Val NP_000416.1:p.Leu958Val NP_076493.1:p.Leu958Val |
38/11422 | 0.00232 | 5 | non_synonymous | Benign |

View | X | 153132233 | 153132233 | C > T | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.2287G>A NM_001278116.1:c.2302G>A NM_000425.4:c.2302G>A NM_024003.3:c.2302G>A |
NP_001137435.1:p.Val763Ile NP_001265045.1:p.Val768Ile NP_000416.1:p.Val768Ile NP_076493.1:p.Val768Ile |
53/11422 | 0.00306 | 5 | Benign | |

View | X | 153141264 | 153141264 | G > A | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.28C>T NM_001278116.1:c.28C>T NM_000425.4:c.28C>T NM_024003.3:c.28C>T |
NP_001137435.1:p.Pro10Ser NP_001265045.1:p.Pro10Ser NP_000416.1:p.Pro10Ser NP_076493.1:p.Pro10Ser |
43/11422 | 0.00254 | 5 | non_synonymous | Benign |

View | X | 153200319 | 153200319 | C > T | NAA10 NAA10 NAA10 |
NM_003491.3:c.21+18G>A NM_001256119.1:c.21+18G>A NM_001256120.1:c.21+18G>A |
34/9555 | 0.00225 | 5 | five_prime_intronic | Benign | |

View | X | 153216900 | 153216900 | C > T | HCFC1 |
NM_005334.2:c.5418G>A |
NP_005325.2:p.Met1806Ile |
20/9594 | 0.00125 | 5 | non_synonymous | Benign |

View | X | 153220056 | 153220056 | G > A | HCFC1 |
NM_005334.2:c.3794C>T |
NP_005325.2:p.Ser1265Leu |
11/9594 | 0.00063 | 3 | non_synonymous | Benign |

View | X | 153220282 | 153220282 | C > T | HCFC1 |
NM_005334.2:c.3568G>A |
NP_005325.2:p.Gly1190Ser |
66/9594 | 0.00464 | 5 | non_synonymous | Benign |

View | X | 153295949 | 153295949 | C > T | MECP2 MECP2 |
NM_001110792.1:c.1366G>A NM_004992.3:c.1330G>A |
NP_001104262.1:p.Ala456Thr NP_004983.1:p.Ala444Thr |
29/11422 | 0.00175 | 5 | non_synonymous | Benign |

View | X | 153296071 | 153296071 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1244C>T NM_004992.3:c.1208C>T |
NP_001104262.1:p.Pro415Leu NP_004983.1:p.Pro403Leu |
5/11422 | 0.00035 | 5 | non_synonymous | Benign |

View | X | 153296106 | 153296111 | AGGTGG > - | MECP2 MECP2 |
NM_001110792.1:c.1204_1209del NM_004992.3:c.1168_1173del |
NP_001104262.1:p.Pro402_Pro403del NP_004983.1:p.Pro390_Pro391del |
8/11422 | 0.00044 | 5 | Benign | |

View | X | 153296153 | 153296153 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1162C>T NM_004992.3:c.1126C>T |
NP_001104262.1:p.Pro388Ser NP_004983.1:p.Pro376Ser |
26/11422 | 0.00136 | 5 | Benign | |

View | X | 153296249 | 153296249 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1066C>T NM_004992.3:c.1030C>T |
NP_001104262.1:p.Arg356Trp NP_004983.1:p.Arg344Trp |
5/11422 | 0.00031 | 5 | Benign | |

View | X | 153296283 | 153296283 | G > A | MECP2 MECP2 |
NM_001110792.1:c.1032C>T NM_004992.3:c.996C>T |
NP_001104262.1:p.Ser344= NP_004983.1:p.Ser332= |
2/11422 | 0.00013 | 1 | Benign | |

View | X | 153296596 | 153296596 | G > C | MECP2 MECP2 |
NM_001110792.1:c.719C>G NM_004992.3:c.683C>G |
NP_001104262.1:p.Thr240Ser NP_004983.1:p.Thr228Ser |
13/11422 | 0.00074 | 5 | Benign | |

View | X | 153296677 | 153296677 | G > A | MECP2 MECP2 |
NM_001110792.1:c.638C>T NM_004992.3:c.602C>T |
NP_001104262.1:p.Ala213Val NP_004983.1:p.Ala201Val |
21/11422 | 0.00118 | 4 | Benign | |

View | X | 153583007 | 153583007 | C > T | FLNA FLNA |
NM_001456.3:c.5266G>A NM_001110556.1:c.5290G>A |
NP_001447.2:p.Ala1756Thr NP_001104026.1:p.Ala1764Thr |
180/9594 | 0.0123 | 5 | Benign | |

View | X | 153587375 | 153587375 | T > C | FLNA FLNA |
NM_001456.3:c.4451A>G NM_001110556.1:c.4451A>G |
NP_001447.2:p.Gln1484Arg NP_001104026.1:p.Gln1484Arg |
22/9594 | 0.00162 | 5 | Benign | |

View | X | 153589848 | 153589848 | G > A | FLNA FLNA |
NM_001456.3:c.3035C>T NM_001110556.1:c.3035C>T |
NP_001447.2:p.Ser1012Leu NP_001104026.1:p.Ser1012Leu |
182/9594 | 0.01246 | 5 | Benign | |

View | X | 153629294 | 153629294 | T > A | RPL10 RPL10 RPL10 |
NM_001256580.1:c.*99T>A NM_001256577.1:c.581T>A NM_006013.3:c.*99T>A |
NP_001243506.1:p.Leu194His |
42/11422 | 0.00254 | 5 | non_synonymous | Benign |

View | X | 153642450 | 153642450 | T > C | TAZ TAZ TAZ TAZ TAZ |
NR_024048.1:n.780+546T>C NM_181311.2:c.370+546T>C NM_181312.2:c.383T>C NM_000116.3:c.383T>C NM_181313.2:c.370+546T>C |
NP_851829.1:p.Phe128Ser NP_000107.1:p.Phe128Ser |
86/11422 | 0.00495 | 5 | Benign | |

View | X | 153760654 | 153760654 | G > A | G6PD G6PD |
NM_000402.3:c.1401C>T NM_001042351.1:c.1311C>T |
NP_000393.4:p.Tyr467= NP_001035810.1:p.Tyr437= |
2454/11954 | 0.14204 | 5 | Benign | |

View | X | 153780386 | 153780386 | G > A | IKBKG IKBKG IKBKG IKBKG |
NM_001145255.1:c.169G>A NM_001099856.2:c.373G>A NM_001099857.1:c.169G>A NM_003639.3:c.169G>A |
NP_001138727.1:p.Glu57Lys NP_001093326.2:p.Glu125Lys NP_001093327.1:p.Glu57Lys NP_003630.1:p.Glu57Lys |
32/11422 | 0.00188 | 5 | Benign | |

View | X | 153993816 | 153993816 | A > - | DKC1 |
ENST00000369550.5:c.171+14del |
23/11383 | 0.00141 | 5 | five_prime_intronic | Benign | |

View | X | 153997446 | 153997446 | A > C | DKC1 |
ENST00000369550.5:c.776A>C |
ENSP00000358563.5:p.His259Pro |
11/11422 | 0.00066 | 3 | non_synonymous | Benign |

View | X | 154189379 | 154189379 | C > T | F8 |
NM_000132.3:c.1508G>A |
NP_000123.1:p.Arg503His |
29/11422 | 0.00158 | 5 | Benign |