Download: Excel

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

View | X | 19367469 | 19367469 | G > C | PDHA1 PDHA1 PDHA1 PDHA1 |
NM_001173454.1:c.211G>C NM_000284.3:c.97G>C NM_001173455.1:c.97G>C NM_001173456.1:c.97G>C |
NP_001166925.1:p.Asp71His NP_000275.1:p.Asp33His NP_001166926.1:p.Asp33His NP_001166927.1:p.Asp33His |
2/6913 | 0.00022 | 3 | non_synonymous | Benign |

View | X | 19375782 | 19375782 | A > C | PDHA1 PDHA1 PDHA1 PDHA1 |
NM_001173454.1:c.958A>C NM_000284.3:c.844A>C NM_001173455.1:c.865A>C NM_001173456.1:c.751A>C |
NP_001166925.1:p.Met320Leu NP_000275.1:p.Met282Leu NP_001166926.1:p.Met289Leu NP_001166927.1:p.Met251Leu |
58/6913 | 0.00622 | 5 | Benign | |

View | X | 19379640 | 19379640 | G > C | PDHA1 MAP3K15 PDHA1 PDHA1 PDHA1 |
NM_001173454.1:c.*1869G>C NM_001001671.3:c.3751C>G NM_000284.3:c.*1869G>C NM_001173455.1:c.*1869G>C NM_001173456.1:c.*1869G>C |
NP_001001671.3:p.Gln1251Glu |
90/6913 | 0.00904 | 5 | non_synonymous | Benign |

View | X | 32429940 | 32429940 | A > C | DMD DMD DMD |
ENST00000378677.2:c.4150T>G NM_004007.2:c.3793T>G ENST00000357033.4:c.4162T>G |
ENSP00000367948.2:p.Phe1384Val NP_003998.1:p.Phe1265Val ENSP00000354923.3:p.Phe1388Val |
55/6913 | 0.00528 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |

View | X | 32503227 | 32503227 | G > C | DMD DMD DMD |
ENST00000378677.2:c.2611-11C>G NM_004007.2:c.2254-11C>G ENST00000357033.4:c.2623-11C>G |
73/6895 | 0.00754 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |

View | X | 32563301 | 32563301 | T > A | DMD DMD DMD |
ENST00000378677.2:c.2131A>T NM_004007.2:c.1774A>T ENST00000357033.4:c.2143A>T |
ENSP00000367948.2:p.Thr711Ser NP_003998.1:p.Thr592Ser ENSP00000354923.3:p.Thr715Ser |
17/6913 | 0.00166 | 5 | non_synonymous | Benign |

View | X | 32613922 | 32613922 | A > T | DMD DMD DMD |
ENST00000378677.2:c.1542T>A NM_004007.2:c.1185T>A ENST00000357033.4:c.1554T>A |
ENSP00000367948.2:p.Asp514Glu NP_003998.1:p.Asp395Glu ENSP00000354923.3:p.Asp518Glu |
31/6913 | 0.00311 | 5 | non_synonymous | Benign |

View | X | 32614000 | 32614000 | G > C | DMD DMD DMD |
NM_004007.2:c.1114-7C>G ENST00000357033.4:c.1483-7C>G ENST00000378677.2:c.1471-7C>G |
9/6913 | 0.00094 | 5 | polypyrimidine_tract | Benign | |

View | X | 38145632 | 38145646 | CTTCCTCCCCTTCTT > - | RPGR RPGR |
NM_001034853.1:c.2606_2620del NM_000328.2:c.1905+701_1905+715del |
NP_001030025.1:p.Glu869_Glu873del |
68/5119 | 0.00899 | 5 | in_frame_indel | Benign |

View | X | 38156584 | 38156584 | T > C | RPGR RPGR |
NM_001034853.1:c.1367A>G NM_000328.2:c.1367A>G |
NP_001030025.1:p.Gln456Arg NP_000319.1:p.Gln456Arg |
79/5119 | 0.01016 | 3 | non_synonymous | Benign |

View | X | 41043236 | 41043237 | - > T | USP9X USP9X |
NM_001039591.2:c.3149-8dupT NM_001039590.2:c.3149-8dupT |
40/5101 | 0.0048 | 5 | polypyrimidine_tract | Benign | |

View | X | 44732885 | 44732885 | G > A | KDM6A |
NM_021140.2:c.88G>A |
NP_066963.2:p.Ala30Thr |
10/5119 | 0.00117 | 5 | non_synonymous | Benign |

View | X | 44935925 | 44935927 | TTT > - | KDM6A |
NM_021140.2:c.2703-7_2703-5del |
70/5101 | 0.00696 | 5 | polypyrimidine_tract | Benign | |

View | X | 47478976 | 47478976 | G > C | SYN1 SYN1 |
NM_006950.3:c.152C>G NM_133499.2:c.152C>G |
NP_008881.2:p.Ala51Gly NP_598006.1:p.Ala51Gly |
25/5119 | 0.00313 | 5 | Benign | |

View | X | 47487668 | 47487668 | C > T | CFP CFP |
NM_002621.2:c.236G>A NM_001145252.1:c.236G>A |
NP_002612.1:p.Arg79Gln NP_001138724.1:p.Arg79Gln |
1/6913 | 7.0e-05 | 5 | non_synonymous | Benign |

View | X | 48547112 | 48547112 | T > C | WAS |
NM_000377.2:c.995T>C |
NP_000368.1:p.Val332Ala |
69/6913 | 0.00571 | 5 | Benign | |

View | X | 48547748 | 48547748 | C > T | WAS |
NM_000377.2:c.1378C>T |
NP_000368.1:p.Pro460Ser |
21/6913 | 0.00195 | 5 | Benign | |

View | X | 50341377 | 50341377 | C > A | SHROOM4 SHROOM4 |
NM_020717.3:c.4101G>T NR_027121.1:n.4127G>T |
NP_065768.2:p.Leu1367Phe |
64/6913 | 0.006 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |

View | X | 50350995 | 50350995 | C > T | SHROOM4 SHROOM4 |
NM_020717.3:c.3147G>A NR_027121.1:n.3173G>A |
NP_065768.2:p.Met1049Ile |
34/6913 | 0.00325 | 5 | non_synonymous | Benign |

View | X | 53263460 | 53263460 | C > T | IQSEC2 IQSEC2 |
NM_001111125.2:c.4408G>A NM_015075.1:c.*893G>A |
NP_001104595.1:p.Ala1470Thr |
69/5119 | 0.00869 | 3 | non_synonymous | Benign |

View | X | 53602185 | 53602185 | A > T | HUWE1 |
NM_031407.5:c.6031-4T>A |
25/6913 | 0.00246 | 5 | Common ExAC MAF original cat: TYPE_3 - polypyrimidine_tract | Benign | |

View | X | 53607786 | 53607786 | C > T | HUWE1 |
NM_031407.5:c.5716+5G>A |
25/6913 | 0.00246 | 5 | five_prime_flank | Benign | |

View | X | 53635887 | 53635887 | G > T | HUWE1 |
NM_031407.5:c.2262-17C>A |
34/6895 | 0.00355 | 5 | three_prime_flank | Benign | |

View | X | 67426446 | 67426446 | G > A | OPHN1 |
NM_002547.2:c.902C>T |
NP_002538.1:p.Thr301Met |
14/6913 | 0.00145 | 5 | non_synonymous | Benign |

View | X | 68059812 | 68059812 | C > T | EFNB1 |
NM_004429.4:c.509C>T |
NP_004420.1:p.Ala170Val |
18/6913 | 0.00181 | 5 | non_synonymous | Benign |

View | X | 68836358 | 68836358 | G > T | EDA EDA EDA EDA EDA |
NM_001399.4:c.206G>T NM_001005609.1:c.206G>T NM_001005613.2:c.206G>T NM_001005612.2:c.206G>T NM_001005610.2:c.206G>T |
NP_001390.1:p.Arg69Leu NP_001005609.1:p.Arg69Leu NP_001005613.1:p.Arg69Leu NP_001005612.2:p.Arg69Leu NP_001005610.2:p.Arg69Leu |
60/6913 | 0.00622 | 4 | Benign | |

View | X | 69563562 | 69563562 | G > T | KIF4A |
ENST00000374403.3:c.1276G>T |
ENSP00000363524.3:p.Ala426Ser |
8/5119 | 0.00117 | 3 | non_synonymous | Benign |

View | X | 69665355 | 69665355 | G > A | DLG3 |
NM_021120.3:c.304G>A |
NP_066943.2:p.Gly102Ser |
38/6913 | 0.00376 | 5 | non_synonymous | Benign |

View | X | 70357135 | 70357135 | G > A | MED12 |
NM_005120.2:c.5650G>A |
NP_005111.2:p.Gly1884Ser |
19/6913 | 0.00203 | 5 | non_synonymous | Benign |

View | X | 73960146 | 73960146 | G > A | KIAA2022 |
NM_001008537.2:c.4246C>T |
NP_001008537.1:p.Pro1416Ser |
41/5119 | 0.00518 | 5 | non_synonymous | Benign |

View | X | 76856021 | 76856021 | T > C | ATRX ATRX |
NM_138270.2:c.5465A>G NM_000489.3:c.5579A>G |
NP_612114.1:p.Asn1822Ser NP_000480.2:p.Asn1860Ser |
74/6913 | 0.00673 | 5 | Benign | |

View | X | 76938153 | 76938153 | G > C | ATRX ATRX |
NM_138270.2:c.2481C>G NM_000489.3:c.2595C>G |
NP_612114.1:p.His827Gln NP_000480.2:p.His865Gln |
71/6913 | 0.00716 | 5 | non_synonymous | Benign |

View | X | 77224487 | 77224487 | C > T | PGAM4 ATP7A |
NM_001029891.2:c.649G>A NM_000052.5:c.-21-2631C>T |
NP_001025062.1:p.Val217Ile |
2/6895 | 0.00022 | 3 | non_synonymous | Benign |

View | X | 100630121 | 100630121 | G > A | BTK |
NM_000061.2:c.141+11C>T |
74/6898 | 0.00732 | 5 | Benign | ||

View | X | 100662901 | 100662901 | G > A | GLA RPL36A-HNRNPH2 RPL36A-HNRNPH2 |
NM_000169.2:c.-10C>T NM_001199973.1:c.409-4023G>A NM_001199974.1:c.286-4023G>A |
729/6913 | 0.07269 | 5 | ClinVar non-pathogenic variant | Benign | |

View | X | 107834411 | 107834411 | C > A | COL4A5 COL4A5 |
NM_000495.4:c.1289C>A NM_033380.2:c.1289C>A |
NP_000486.1:p.Ala430Asp NP_203699.1:p.Ala430Asp |
41/6913 | 0.00376 | 5 | non_synonymous | Benign |

View | X | 119005968 | 119005968 | G > C | NDUFA1 |
NM_004541.3:c.94G>C |
NP_004532.1:p.Gly32Arg |
58/6913 | 0.00514 | 5 | ClinVar pathogenic variant | Benign |

View | X | 119573071 | 119573071 | C > T | LAMP2 LAMP2 LAMP2 |
NM_013995.2:c.1171G>A NM_001122606.1:c.1093+2514G>A NM_002294.2:c.1093+2514G>A |
NP_054701.1:p.Val391Ile |
54/5119 | 0.00654 | 5 | Benign | |

View | X | 123480540 | 123480540 | C > T | SH2D1A SH2D1A |
NM_002351.4:c.48C>T NM_001114937.2:c.48C>T |
NM_002351.4:c.48C>T(p.=) NM_001114937.2:c.48C>T(p.=) |
28/6913 | 0.00253 | 5 | Benign | |

View | X | 135067686 | 135067686 | G > T | SLC9A6 SLC9A6 SLC9A6 |
NM_001177651.1:c.-57+50G>T NM_001042537.1:c.25G>T NM_006359.2:c.25G>T |
NP_001036002.1:p.Ala9Ser NP_006350.1:p.Ala9Ser |
31/6913 | 0.00275 | 5 | non_synonymous | Benign |

View | X | 139586919 | 139586919 | G > T | SOX3 |
NM_005634.2:c.307C>A |
NP_005625.2:p.Pro103Thr |
45/6913 | 0.00448 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |

View | X | 139587099 | 139587099 | C > T | SOX3 |
NM_005634.2:c.127G>A |
NP_005625.2:p.Ala43Thr |
68/6913 | 0.00702 | 5 | Common ExAC MAF original cat: TYPE_3 - non_synonymous | Benign |

View | X | 139587212 | 139587212 | C > T | SOX3 |
NM_005634.2:c.14G>A |
NP_005625.2:p.Arg5Gln |
21/6913 | 0.00188 | 5 | non_synonymous | Benign |

View | X | 147919205 | 147919205 | C > A | AFF2 AFF2 AFF2 AFF2 AFF2 AFF2 |
NM_001169124.1:c.1087-5285C>A NM_001169125.1:c.1075-5285C>A NM_001170628.1:c.97-5285C>A NM_001169122.1:c.1075-5285C>A NM_002025.3:c.1121C>A NM_001169123.1:c.1109C>A |
NP_002016.2:p.Ser374Tyr NP_001162594.1:p.Ser370Tyr |
4/6913 | 0.00036 | 5 | non_synonymous | Benign |

View | X | 152954025 | 152954025 | A > G | SLC6A8 SLC6A8 |
NM_005629.3:c.-5A>G NM_001142805.1:c.-5A>G |
4527/6913 | 0.65088 | 5 | ClinVar non-pathogenic variant | Benign | |

View | X | 152959980 | 152959980 | C > T | SLC6A8 SLC6A8 SLC6A8 |
NM_001142806.1:c.1151-8C>T NM_005629.3:c.1496-8C>T NM_001142805.1:c.1466-8C>T |
12/6913 | 0.00094 | 5 | Benign | ||

View | X | 152969508 | 152969508 | G > A | BCAP31 BCAP31 BCAP31 BCAP31 |
NM_001139457.2:c.584C>T NM_001256447.1:c.383C>T NM_005745.7:c.383C>T NM_001139441.1:c.383C>T |
NP_001132929.1:p.Thr195Met NP_001243376.1:p.Thr128Met NP_005736.3:p.Thr128Met NP_001132913.1:p.Thr128Met |
23/5119 | 0.00313 | 5 | non_synonymous | Benign |

View | X | 153130543 | 153130543 | G > C | L1CAM L1CAM L1CAM L1CAM |
NM_000425.4:c.2872C>G NM_001143963.2:c.2857C>G NM_001278116.1:c.2872C>G NM_024003.3:c.2872C>G |
NP_000416.1:p.Leu958Val NP_001137435.1:p.Leu953Val NP_001265045.1:p.Leu958Val NP_076493.1:p.Leu958Val |
14/6913 | 0.0013 | 5 | non_synonymous | Benign |

View | X | 153132233 | 153132233 | C > T | L1CAM L1CAM L1CAM L1CAM |
NM_024003.3:c.2302G>A NM_001278116.1:c.2302G>A NM_001143963.2:c.2287G>A NM_000425.4:c.2302G>A |
NP_076493.1:p.Val768Ile NP_001265045.1:p.Val768Ile NP_001137435.1:p.Val763Ile NP_000416.1:p.Val768Ile |
36/6913 | 0.00347 | 5 | Benign | |

View | X | 153141264 | 153141264 | G > A | L1CAM L1CAM L1CAM L1CAM |
NM_024003.3:c.28C>T NM_001278116.1:c.28C>T NM_001143963.2:c.28C>T NM_000425.4:c.28C>T |
NP_076493.1:p.Pro10Ser NP_001265045.1:p.Pro10Ser NP_001137435.1:p.Pro10Ser NP_000416.1:p.Pro10Ser |
24/6913 | 0.00231 | 5 | non_synonymous | Benign |