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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 | 100656740 | 100656740 | C > T | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.427G>A NM_001199973.1:c.408+6295C>T NM_001199974.1:c.285+9930C>T |
NP_000160.1:p.Ala143Thr |
22/14969 | 0.00104 | 1 | Pathogenic | |

View | X | 100667593 | 100667593 | G > A | HNRNPH2 RPL36A-HNRNPH2 RPL36A-HNRNPH2 HNRNPH2 |
NM_001032393.2:c.617G>A NM_001199973.1:c.*613G>A NM_001199974.1:c.*613G>A NM_019597.4:c.617G>A |
NP_001027565.1:p.Arg206Gln NP_062543.1:p.Arg206Gln |
1/13105 | 4.0e-05 | 1 | Pathogenic | |

View | X | 103042821 | 103042821 | C > - | PLP1 PLP1 PLP1 |
NM_001128834.1:c.549del NM_000533.3:c.549del NM_199478.1:c.444del |
NP_001122306.1:p.Cys184AlafsTer14 NP_000524.3:p.Cys184AlafsTer14 NP_955772.1:p.Cys149AlafsTer14 |
2/14969 | 0.00013 | 2 | frameshift | Pathogenic |

View | X | 107167583 | 107167583 | T > - | MID2 MID2 |
NM_012216.3:c.1447del NM_052817.2:c.1357del |
NP_036348.2:p.Ser483GlnfsTer2 NP_438112.2:p.Ser453GlnfsTer2 |
2/13144 | 0.00011 | 2 | frameshift | Pathogenic |

View | X | 107834462 | 107834462 | G > A | COL4A5 COL4A5 |
NM_000495.4:c.1339+1G>A NM_033380.2:c.1339+1G>A |
1/13810 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic | |

View | X | 107844705 | 107844712 | AGGTCTTC > - | COL4A5 COL4A5 |
NM_000495.4:c.2031_2038del NM_033380.2:c.2031_2038del |
NP_000486.1:p.Gly678ArgfsTer2 NP_203699.1:p.Gly678ArgfsTer2 |
1/14969 | 3.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |

View | X | 107935998 | 107935998 | C > - | COL4A5 COL4A5 |
NM_000495.4:c.4531del NM_033380.2:c.4549del |
NP_000486.1:p.Arg1511ValfsTer37 NP_203699.1:p.Arg1517ValfsTer37 |
1/14969 | 7.0e-05 | 1 | ClinVar pathogenic variant | Pathogenic |

View | X | 110928268 | 110928268 | A > G | ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 ALG13 |
NR_033125.1:n.317A>G NM_001039210.3:c.261A>G NM_001257241.1:c.86A>G NM_001257230.1:c.8A>G NM_001257240.1:c.8A>G NM_001257231.1:c.86A>G NM_001257234.1:c.8A>G NM_001257235.1:c.8A>G NM_001257237.1:c.8A>G NM_001257239.1:c.8A>G NM_001168385.1:c.320A>G NM_018466.4:c.320A>G NM_001099922.2:c.320A>G |
NP_001034299.3:p.Gln87= NP_001244170.1:p.Asn29Ser NP_001244159.1:p.Asn3Ser NP_001244169.1:p.Asn3Ser NP_001244160.1:p.Asn29Ser NP_001244163.1:p.Asn3Ser NP_001244164.1:p.Asn3Ser NP_001244166.1:p.Asn3Ser NP_001244168.1:p.Asn3Ser NP_001161857.1:p.Asn107Ser NP_060936.1:p.Asn107Ser NP_001093392.1:p.Asn107Ser |
1/13144 | 4.0e-05 | 1 | Pathogenic | |

View | X | 128696614 | 128696614 | C > - | OCRL OCRL |
NM_000276.3:c.1095del NM_001587.3:c.1095del |
NP_000267.2:p.His365GlnfsTer33 NP_001578.2:p.His365GlnfsTer33 |
2/14969 | 0.0001 | 1 | ClinVar pathogenic variant | Pathogenic |

View | X | 136649605 | 136649605 | C > A | ZIC3 |
NM_003413.3:c.755C>A |
NP_003404.1:p.Ser252Ter |
1/14969 | 7.0e-05 | 1 | Pathogenic | |

View | X | 149783173 | 149783173 | G > A | MTM1 |
NM_000252.2:c.342+1G>A |
1/13810 | 7.0e-05 | 1 | Pathogenic | ||

View | X | 149809777 | 149809779 | TAA > - | MTM1 |
NM_000252.2:c.567_569del |
NP_000243.1:p.Asn189del |
1/14969 | 7.0e-05 | 1 | curation | Pathogenic |

View | X | 152956998 | 152956998 | G > A | SLC6A8 SLC6A8 SLC6A8 |
NM_005629.3:c.634G>A NM_001142805.1:c.634G>A NM_001142806.1:c.289G>A |
NP_005620.1:p.Glu212Lys NP_001136277.1:p.Glu212Lys NP_001136278.1:p.Glu97Lys |
1/14969 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153135273 | 153135273 | C > T | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.1093G>A NM_001278116.1:c.1108G>A NM_000425.4:c.1108G>A NM_024003.3:c.1108G>A |
NP_001137435.1:p.Gly365Arg NP_001265045.1:p.Gly370Arg NP_000416.1:p.Gly370Arg NP_076493.1:p.Gly370Arg |
2/14969 | 0.0001 | 1 | Pathogenic | |

View | X | 153135391 | 153135391 | T > C | L1CAM L1CAM L1CAM L1CAM |
NM_001143963.2:c.977-2A>G NM_001278116.1:c.992-2A>G NM_000425.4:c.992-2A>G NM_024003.3:c.992-2A>G |
1/13810 | 7.0e-05 | 1 | curation | Pathogenic | |

View | X | 153171352 | 153171352 | T > C | AVPR2 AVPR2 AVPR2 |
NM_000054.4:c.392T>C NM_001146151.1:c.392T>C NR_027419.1:n.560-121T>C |
NP_000045.1:p.Leu131Pro NP_001139623.1:p.Leu131Pro |
2/13144 | 0.00011 | 1 | Pathogenic | |

View | X | 153230153 | 153230153 | G > A | HCFC1 |
NM_005334.2:c.218C>T |
NP_005325.2:p.Ala73Val |
2/13144 | 0.00011 | 1 | Pathogenic | |

View | X | 153296363 | 153296363 | G > A | MECP2 MECP2 |
NM_001110792.1:c.952C>T NM_004992.3:c.916C>T |
NP_001104262.1:p.Arg318Cys NP_004983.1:p.Arg306Cys |
2/14969 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153296399 | 153296399 | G > A | MECP2 MECP2 |
NM_001110792.1:c.916C>T NM_004992.3:c.880C>T |
NP_001104262.1:p.Arg306Ter NP_004983.1:p.Arg294Ter |
1/14969 | 3.0e-05 | 1 | Pathogenic | |

View | X | 153296471 | 153296471 | G > A | MECP2 MECP2 |
NM_001110792.1:c.844C>T NM_004992.3:c.808C>T |
NP_001104262.1:p.Arg282Ter NP_004983.1:p.Arg270Ter |
1/14969 | 3.0e-05 | 1 | Pathogenic | |

View | X | 153296516 | 153296516 | G > A | MECP2 MECP2 |
NM_001110792.1:c.799C>T NM_004992.3:c.763C>T |
NP_001104262.1:p.Arg267Ter NP_004983.1:p.Arg255Ter |
2/14969 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153296525 | 153296526 | - > GG | MECP2 MECP2 |
NM_001110792.1:c.788_789dupCC NM_004992.3:c.752_753dupCC |
NP_001104262.1:p.Gly264ProfsTer38 NP_004983.1:p.Gly252ProfsTer38 |
1/14969 | 3.0e-05 | 1 | Pathogenic | |

View | X | 153296780 | 153296780 | G > A | MECP2 MECP2 |
NM_001110792.1:c.535C>T NM_004992.3:c.499C>T |
NP_001104262.1:p.Arg179Trp NP_004983.1:p.Arg167Trp |
2/14969 | 0.0001 | 1 | Pathogenic | |

View | X | 153296806 | 153296806 | G > A | MECP2 MECP2 |
NM_001110792.1:c.509C>T NM_004992.3:c.473C>T |
NP_001104262.1:p.Thr170Met NP_004983.1:p.Thr158Met |
2/14969 | 7.0e-05 | 1 | Pathogenic | |

View | X | 153296860 | 153296860 | G > A | MECP2 MECP2 |
NM_001110792.1:c.455C>T NM_004992.3:c.419C>T |
NP_001104262.1:p.Ala152Val NP_004983.1:p.Ala140Val |
4/14969 | 0.00017 | 1 | Pathogenic | |

View | X | 153363122 | 153363122 | T > A | MECP2 MECP2 |
NM_001110792.1:c.1A>T NM_004992.3:c.-160A>T |
NP_001104262.1:p.Met1? |
1/14969 | 3.0e-05 | 1 | curation | Pathogenic |

View | X | 153760605 | 153760605 | G > A | G6PD G6PD |
NM_000402.3:c.1450C>T NM_001042351.1:c.1360C>T |
NP_000393.4:p.Arg484Cys NP_001035810.1:p.Arg454Cys |
2/15597 | 0.00013 | 1 | Pathogenic | |

View | X | 153761807 | 153761807 | T > A | G6PD G6PD |
NM_000402.3:c.938A>T NM_001042351.1:c.848A>T |
NP_000393.4:p.Asp313Val NP_001035810.1:p.Asp283Val |
1/15597 | 6.0e-05 | 1 | Pathogenic | |

View | X | 153762655 | 153762655 | T > A | G6PD G6PD |
NM_000402.3:c.632A>T NM_001042351.1:c.542A>T |
NP_000393.4:p.Asp211Val NP_001035810.1:p.Asp181Val |
2/15597 | 0.00013 | 1 | Pathogenic | |

View | X | 153764217 | 153764217 | C > T | G6PD G6PD |
NM_000402.3:c.292G>A NM_001042351.1:c.202G>A |
NP_000393.4:p.Val98Met NP_001035810.1:p.Val68Met |
246/15597 | 0.01084 | 1 | curation | Pathogenic |

View | X | 153764371 | 153764371 | A > G | G6PD G6PD |
NM_000402.3:c.233T>C NM_001042351.1:c.143T>C |
NP_000393.4:p.Ile78Thr NP_001035810.1:p.Ile48Thr |
3/15597 | 0.0001 | 1 | Pathogenic | |

View | X | 154004468 | 154004468 | C > G | DKC1 |
ENST00000369550.5:c.1345C>G |
ENSP00000358563.5:p.Arg449Gly |
1/14969 | 7.0e-05 | 1 | curation | Pathogenic |

View | X | 154124378 | 154124378 | G > A | F8 |
NM_000132.3:c.6403C>T |
NP_000123.1:p.Arg2135Ter |
1/14969 | 7.0e-05 | 1 | Pathogenic |