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

View | 13 | 78492540 | 78492540 | C > T | EDNRB |
ENST00000334286.5:c.169G>A ENST00000377211.4:c.439G>A NM_003991.3:c.169G>A |
ENSP00000335311.5:p.Gly57Ser ENSP00000366416.4:p.Gly147Ser NP_003982.1:p.Gly57Ser |
82/6913 | 0.006 | 3 | Uncertain Significance | |

View | 13 | 110861756 | 110861756 | C > T | COL4A1 |
NM_001845.4:c.634G>A |
NP_001836.2:p.Gly212Ser |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 23884437 | 23884437 | T > C | MYH7 |
NM_000257.2:c.5326A>G |
NP_000248.2:p.Ser1776Gly |
2/5119 | 0.0002 | 3 | Uncertain Significance | |

View | 14 | 23886458 | 23886458 | G > A | MYH7 |
NM_000257.2:c.4423C>T |
NP_000248.2:p.Arg1475Cys |
4/5119 | 0.00039 | 3 | Uncertain Significance | |

View | 14 | 23900798 | 23900798 | C > T | MYH7 |
NM_000257.2:c.728G>A |
NP_000248.2:p.Arg243His |
2/5119 | 0.0002 | 3 | Uncertain Significance | |

View | 14 | 29236687 | 29236687 | C > T | FOXG1 |
NM_005249.4:c.202C>T |
NP_005240.3:p.Pro68Ser |
1/5771 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 29236760 | 29236760 | C > T | FOXG1 |
NM_005249.4:c.275C>T |
NP_005240.3:p.Ala92Val |
1/5771 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 29237530 | 29237530 | T > G | FOXG1 |
NM_005249.4:c.1045T>G |
NP_005240.3:p.Ser349Ala |
2/5771 | 0.00017 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 32319298 | 32319298 | T > C | NUBPL |
NM_001201573.1:c.527-27T>C NM_025152.2:c.815-27T>C NM_001201574.1:c.266-27T>C |
32/5101 | 0.00314 | 3 | Uncertain Significance | ||

View | 14 | 50088719 | 50088719 | G > C | MGAT2 |
NM_002408.3:c.733G>C |
NP_002399.1:p.Val245Leu |
25/6913 | 0.00181 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 50585304 | 50585306 | TAA > - | SOS2 |
NM_006939.2:c.3755_3757del |
NP_008870.2:p.Ile1252del |
1/5119 | 0.0001 | 3 | in_frame_indel | Uncertain Significance |

View | 14 | 50597321 | 50597321 | T > C | SOS2 |
NM_006939.2:c.3235A>G |
NP_008870.2:p.Thr1079Ala |
4/5119 | 0.00039 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 51224113 | 51224113 | G > A | NIN |
ENST00000382041.3:c.3635C>T ENST00000453196.1:c.3635C>T NM_016350.4:c.2399+2462C>T ENST00000245441.5:c.3635C>T |
ENSP00000371472.3:p.Ala1212Val ENSP00000412391.1:p.Ala1212Val ENSP00000245441.5:p.Ala1212Val |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 60976501 | 60976501 | G > A | SIX6 |
NM_007374.2:c.385G>A |
NP_031400.2:p.Glu129Lys |
82/5119 | 0.00801 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 64518393 | 64518393 | G > A | SYNE2 |
NM_182914.2:c.7762G>A NM_015180.4:c.7762G>A |
NP_878918.2:p.Val2588Met NP_055995.4:p.Val2588Met |
6/5119 | 0.00059 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 64589059 | 64589059 | G > A | SYNE2 |
NM_182914.2:c.13336G>A NM_015180.4:c.13336G>A |
NP_878918.2:p.Gly4446Ser NP_055995.4:p.Gly4446Ser |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 74424855 | 74424855 | G > A | COQ6 |
NM_182476.2:c.487G>A NM_182480.2:c.412G>A |
NP_872282.1:p.Val163Met NP_872286.2:p.Val138Met |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 74759024 | 74759024 | C > T | ABCD4 |
NR_003256.2:n.1108G>A NM_005050.3:c.1084G>A |
NP_005041.1:p.Glu362Lys |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 74947404 | 74947404 | C > T | NPC2 |
NM_006432.3:c.441+1G>A |
67/6913 | 0.00492 | 1 | Uncertain Significance | ||

View | 14 | 74951189 | 74951189 | T > G | NPC2 |
NM_006432.3:c.292A>C |
NP_006423.1:p.Asn98His |
5/6913 | 0.00036 | 1 | Uncertain Significance | |

View | 14 | 88414206 | 88414206 | C > T | GALC |
ENST00000393568.4:c.1286G>A ENST00000393569.2:c.1277G>A ENST00000261304.2:c.1355G>A |
ENSP00000377198.4:p.Gly429Asp ENSP00000377199.2:p.Gly426Asp ENSP00000261304.2:p.Gly452Asp |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 91749685 | 91749685 | C > G | CCDC88C |
NM_001080414.3:c.4618G>C |
NP_001073883.2:p.Gly1540Arg |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 91763720 | 91763720 | G > A | CCDC88C |
NM_001080414.3:c.3895C>T |
NP_001073883.2:p.Arg1299Cys |
47/5119 | 0.00459 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 91806262 | 91806262 | C > T | CCDC88C |
NM_001080414.3:c.590G>A |
NP_001073883.2:p.Arg197Gln |
7/5119 | 0.00068 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 92470233 | 92470233 | T > C | TRIP11 |
NM_004239.3:c.4087A>G |
NP_004230.2:p.Ile1363Val |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 14 | 97322892 | 97322892 | G > T | VRK1 |
NM_003384.2:c.858G>T |
NP_003375.1:p.Met286Ile |
18/5119 | 0.00176 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 23891505 | 23891525 | del > - | MAGEL2 |
NM_019066.4:c.1365_1385del |
NP_061939.3:p.Pro456_Pro-325del |
17/5119 | 0.00166 | 3 | in_frame_indel | Uncertain Significance |

View | 15 | 27017864 | 27017864 | T > G | GABRB3 |
NM_021912.4:c.136A>C NM_000814.5:c.136A>C NM_001278631.1:c.-216A>C |
NP_068712.1:p.Lys46Gln NP_000805.1:p.Lys46Gln |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 28443903 | 28443903 | C > T | HERC2 |
NM_004667.5:c.7729G>A |
NP_004658.3:p.Val2577Ile |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 28474481 | 28474481 | G > A | HERC2 |
NM_004667.5:c.5132C>T |
NP_004658.3:p.Thr1711Ile |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 28499591 | 28499591 | T > C | HERC2 |
NM_004667.5:c.2945A>G |
NP_004658.3:p.His982Arg |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 34542534 | 34542534 | A > C | SLC12A6 |
NM_001042496.1:c.1587T>G NM_005135.2:c.1461T>G NM_001042497.1:c.1569T>G NM_001042494.1:c.1437T>G NM_001042495.1:c.1437T>G NM_133647.1:c.1614T>G |
NP_001035961.1:p.Phe529Leu NP_005126.1:p.Phe487Leu NP_001035962.1:p.Phe523Leu NP_001035959.1:p.Phe479Leu NP_001035960.1:p.Phe479Leu NP_598408.1:p.Phe538Leu |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 34543135 | 34543135 | G > A | SLC12A6 |
NM_001042496.1:c.1430C>T NM_001042497.1:c.1412C>T NM_005135.2:c.1304C>T NM_001042494.1:c.1280C>T NM_001042495.1:c.1280C>T NM_133647.1:c.1457C>T |
NP_001035961.1:p.Thr477Met NP_001035962.1:p.Thr471Met NP_005126.1:p.Thr435Met NP_001035959.1:p.Thr427Met NP_001035960.1:p.Thr427Met NP_598408.1:p.Thr486Met |
4/6913 | 0.00029 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 38641645 | 38641645 | T > C | SPRED1 |
NM_152594.2:c.605T>C |
NP_689807.1:p.Leu202Ser |
2/5119 | 0.0002 | 1 | Uncertain Significance | |

View | 15 | 40913676 | 40913676 | A > G | CASC5 |
NM_144508.4:c.1214A>G NM_170589.4:c.1292A>G |
NP_653091.3:p.Asp405Gly NP_733468.3:p.Asp431Gly |
11/5119 | 0.00107 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 43299402 | 43299402 | G > A | UBR1 |
NM_174916.2:c.3290C>T |
NP_777576.1:p.Thr1097Met |
15/6913 | 0.00108 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 43678512 | 43678512 | G > A | TUBGCP4 |
NM_014444.2:c.998G>A |
NP_055259.2:p.Arg333His |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 44858499 | 44858499 | G > C | SPG11 |
NM_001160227.1:c.6420C>G NM_025137.3:c.6759C>G |
NP_001153699.1:p.Asp2140Glu NP_079413.3:p.Asp2253Glu |
10/5119 | 0.00098 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 45661601 | 45661601 | G > A | GATM |
NM_001482.2:c.407C>T |
NP_001473.1:p.Thr136Met |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 48500263 | 48500263 | G > A | SLC12A1 |
NM_000338.2:c.347G>A NM_001184832.1:c.347G>A |
NP_000329.2:p.Arg116His NP_001171761.1:p.Arg116His |
65/6913 | 0.0047 | 1 | Uncertain Significance | |

View | 15 | 49076311 | 49076311 | T > C | CEP152 |
NM_014985.3:c.1180A>G NM_001194998.1:c.1180A>G |
NP_055800.2:p.Ile394Val NP_001181927.1:p.Ile394Val |
43/5119 | 0.0043 | 1 | Uncertain Significance | |

View | 15 | 49089694 | 49089694 | C > T | CEP152 |
NM_014985.3:c.344G>A NM_001194998.1:c.344G>A |
NP_055800.2:p.Arg115Gln NP_001181927.1:p.Arg115Gln |
35/5119 | 0.00342 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 51233687 | 51233687 | C > T | AP4E1 |
NM_001252127.1:c.767C>T NM_007347.4:c.992C>T |
NP_001239056.1:p.Ser256Leu NP_031373.2:p.Ser331Leu |
2/5119 | 0.0002 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 52611351 | 52611351 | C > T | MYO5A |
ENST00000356338.6:c.4984G>A ENST00000399231.3:c.5065G>A |
ENSP00000348693.6:p.Val1662Ile ENSP00000382177.3:p.Val1689Ile |
37/6913 | 0.00268 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 55497811 | 55497811 | C > T | RAB27A |
NM_183235.2:c.560G>A NM_183234.2:c.560G>A NM_004580.4:c.560G>A NM_183236.2:c.560G>A |
NP_899058.1:p.Arg187Gln NP_899057.1:p.Arg187Gln NP_004571.2:p.Arg187Gln NP_899059.1:p.Arg187Gln |
5/6913 | 0.00036 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 64017685 | 64017685 | C > T | HERC1 |
NM_003922.3:c.3374G>A |
NP_003913.3:p.Gly1125Asp |
28/5119 | 0.00273 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 68500732 | 68500732 | C > T | CLN6 |
NM_017882.2:c.682G>A |
NP_060352.1:p.Gly228Ser |
2/6913 | 0.00014 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 73016923 | 73016923 | A > G | BBS4 |
NR_045566.1:n.876A>G ENST00000268057.4:c.514A>G NR_045565.1:n.621A>G ENST00000395205.2:c.538A>G |
ENSP00000268057.4:p.Ile172Val ENSP00000378631.2:p.Ile180Val |
1/5119 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 74659692 | 74659692 | C > T | CYP11A1 |
NM_000781.2:c.235G>A |
NP_000772.2:p.Val79Ile |
58/7003 | 0.00414 | 3 | non_synonymous | Uncertain Significance |

View | 15 | 76580196 | 76580196 | T > C | ETFA |
NM_000126.3:c.442A>G NM_001127716.1:c.295A>G |
NP_000117.1:p.Ile148Val NP_001121188.1:p.Ile99Val |
3/6913 | 0.00022 | 3 | non_synonymous | Uncertain Significance |