Download: Excel

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

View | 1 | 955596 | 955596 | C > G | AGRN |
NM_198576.3:c.44C>G |
NP_940978.2:p.Pro15Arg |
12/9594 | 0.00063 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 981353 | 981353 | C > T | AGRN |
NM_198576.3:c.2690C>T |
NP_940978.2:p.Ala897Val |
48/9594 | 0.0025 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1168051 | 1168051 | C > G | B3GALT6 |
NM_080605.3:c.393C>G |
NP_542172.2:p.Asn131Lys |
2/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1271833 | 1271833 | G > A | DVL1 |
NM_004421.2:c.1702C>T |
NP_004412.2:p.Arg568Trp |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 1960633 | 1960633 | G > A | GABRD |
NM_000815.4:c.775G>A |
NP_000806.2:p.Val259Ile |
7/9594 | 0.00036 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 2235762 | 2235762 | C > T | SKI |
NM_003036.3:c.1505C>T |
NP_003027.1:p.Pro502Leu |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 2238200 | 2238201 | - > GTAGATTCCGT | SKI |
NM_003036.3:c.2185_*8dupTAGATTCCGTG |
2/9594 | 0.0001 | 2 | premature_stop | Uncertain Significance | |

View | 1 | 2338295 | 2338295 | G > A | PEX10 PEX10 |
NM_153818.1:c.700C>T NM_002617.3:c.640C>T |
NP_722540.1:p.Arg234Cys NP_002608.1:p.Arg214Cys |
5/11422 | 0.00022 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 3301830 | 3301830 | A > G | PRDM16 PRDM16 |
NM_199454.2:c.553A>G NM_022114.3:c.553A>G |
NP_955533.2:p.Met185Val NP_071397.3:p.Met185Val |
6/9594 | 0.00031 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 5937254 | 5937254 | G > A | NPHP4 |
NM_015102.3:c.2716C>T |
NP_055917.1:p.Arg906Cys |
7/11422 | 0.00031 | 3 | Uncertain Significance | |

View | 1 | 6529605 | 6529605 | A > G | PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 PLEKHG5 |
NM_001042663.1:c.2100T>C NM_001042665.1:c.1932T>C NM_001042664.1:c.1932T>C NM_001265593.1:c.2139T>C NM_020631.4:c.1932T>C NM_001265594.1:c.1932T>C NM_001265592.1:c.2169T>C NM_198681.3:c.2163T>C |
NP_001036128.1:p.Pro700= NP_001036130.1:p.Pro644= NP_001036129.1:p.Pro644= NP_001252522.1:p.Pro713= NP_065682.2:p.Pro644= NP_001252523.1:p.Pro644= NP_001252521.1:p.Pro723= NP_941374.2:p.Pro721= |
10/11422 | 0.00044 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 8384555 | 8384555 | A > G | SLC45A1 |
NM_001080397.1:c.166A>G |
NP_001073866.1:p.Ile56Val |
1/9555 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 8384717 | 8384717 | C > T | SLC45A1 |
NM_001080397.1:c.328C>T |
NP_001073866.1:p.Pro110Ser |
1/9555 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 8420319 | 8420319 | C > A | RERE RERE RERE |
NM_012102.3:c.3248G>T NM_001042682.1:c.1586G>T NM_001042681.1:c.3248G>T |
NP_036234.3:p.Gly1083Val NP_001036147.1:p.Gly529Val NP_001036146.1:p.Gly1083Val |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 11103530 | 11103530 | G > A | MASP2 |
NM_006610.3:c.607C>T |
NP_006601.2:p.Arg203Trp |
8/9594 | 0.00042 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 11736959 | 11736959 | C > T | MAD2L2 MAD2L2 |
NM_006341.3:c.278G>A NM_001127325.1:c.278G>A |
NP_006332.3:p.Arg93His NP_001120797.1:p.Arg93His |
9/9555 | 0.00047 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 12429702 | 12429702 | C > T | VPS13D VPS13D |
ENST00000358136.3:c.10753C>T ENST00000356315.4:c.10678C>T |
ENSP00000350854.3:p.Arg3585Trp ENSP00000348666.4:p.Arg3560Trp |
2/9555 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 17349132 | 17349132 | T > C | SDHB TRNAN-GUU |
NM_003000.2:c.736A>G |
NP_002991.2:p.Ile246Val |
1/9594 | 5.0e-05 | 3 | Uncertain Significance | |

View | 1 | 19545802 | 19545802 | G > A | EMC1 TRNAN-GUU EMC1 EMC1 EMC1 |
NM_015047.2:c.2977C>T NM_001271427.1:c.2974C>T NM_001271428.1:c.2974C>T NM_001271429.1:c.2911C>T |
NP_055862.1:p.Arg993Ter NP_001258356.1:p.Arg992Ter NP_001258357.1:p.Arg992Ter NP_001258358.1:p.Arg971Ter |
1/9594 | 5.0e-05 | 3 | premature_stop | Uncertain Significance |

View | 1 | 20964534 | 20964534 | C > T | TRNAN-GUU PINK1 |
NM_032409.2:c.587C>T |
NP_115785.1:p.Pro196Leu |
9/9594 | 0.00047 | 3 | Uncertain Significance | |

View | 1 | 20979136 | 20979136 | G > A | TRNAN-GUU DDOST |
ENST00000375048.3:c.1199C>T |
ENSP00000364188.3:p.Thr400Ile |
56/9594 | 0.00292 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 20981934 | 20981934 | C > T | TRNAN-GUU DDOST |
ENST00000375048.3:c.601G>A |
ENSP00000364188.3:p.Gly201Arg |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 22181472 | 22181472 | C > T | TRNAN-GUU HSPG2 |
NM_005529.5:c.6002G>A |
NP_005520.4:p.Arg2001Gln |
2/11422 | 9.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 23399783 | 23399783 | A > G | TRNAN-GUU KDM1A KDM1A |
NM_015013.3:c.1551-2A>G NM_001009999.2:c.1623-2A>G |
2/9594 | 0.0001 | 2 | acceptor_site | Uncertain Significance | |

View | 1 | 27023087 | 27023087 | C > G | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.193C>G NM_006015.4:c.193C>G |
NP_624361.1:p.Pro65Ala NP_006006.3:p.Pro65Ala |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27089679 | 27089679 | G > A | ARID1A TRNAN-GUU ARID1A |
NM_139135.2:c.2635G>A NM_006015.4:c.2635G>A |
NP_624361.1:p.Val879Ile NP_006006.3:p.Val879Ile |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27120874 | 27120874 | A > G | PIGV TRNAN-GUU PIGV |
NM_001202554.1:c.349A>G NM_017837.3:c.349A>G |
NP_001189483.1:p.Ile117Val NP_060307.2:p.Ile117Val |
31/9594 | 0.00162 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27878526 | 27878526 | G > T | TRNAN-GUU AHDC1 |
NM_001029882.2:c.101C>A |
NP_001025053.1:p.Thr34Asn |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 27930145 | 27930145 | T > C | TRNAN-GUU | 1/2986 | 0.00017 | 4 | intronic | Uncertain Significance | ||

View | 1 | 29542504 | 29542504 | T > C | TRNAN-GUU MECR MECR |
NM_016011.2:c.406+13A>G NM_001024732.1:c.178+13A>G |
17/9555 | 0.00089 | 3 | five_prime_intronic | Uncertain Significance | |

View | 1 | 38006125 | 38006125 | G > A | TRNAN-GUU SNIP1 |
NM_024700.3:c.559C>T |
NP_078976.2:p.Arg187Trp |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 38006200 | 38006200 | C > A | TRNAN-GUU SNIP1 |
NM_024700.3:c.484G>T |
NP_078976.2:p.Gly162Cys |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40539750 | 40539750 | T > C | TRNAN-GUU PPT1 PPT1 |
NM_001142604.1:c.595A>G NM_000310.3:c.904A>G |
NP_001136076.1:p.Ile199Val NP_000301.1:p.Ile302Val |
25/11422 | 0.00109 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40737667 | 40737667 | G > C | TRNAN-GUU ZMPSTE24 |
NM_005857.4:c.729G>C |
NP_005848.2:p.Lys243Asn |
1/11422 | 4.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40770513 | 40770513 | G > A | COL9A2 TRNAN-GUU |
NM_001852.3:c.1114C>T |
NP_001843.1:p.Pro372Ser |
5/9594 | 0.00026 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 40777800 | 40777800 | T > C | COL9A2 TRNAN-GUU |
NM_001852.3:c.364-16A>G |
13/9555 | 0.00068 | 3 | three_prime_flank | Uncertain Significance | |

View | 1 | 40782845 | 40782845 | G > C | COL9A2 TRNAN-GUU |
NM_001852.3:c.25C>G |
NP_001843.1:p.Arg9Gly |
1/9594 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43880870 | 43880870 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.616G>A |
NP_056099.3:p.Asp206Asn |
1/9585 | 5.0e-05 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43896304 | 43896304 | G > A | TRNAN-GUU SZT2 |
NM_015284.3:c.4447G>A |
NP_056099.3:p.Asp1483Asn |
2/9594 | 0.0001 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 43896743 | 43896743 | C > T | TRNAN-GUU SZT2 |
NM_015284.3:c.4727C>T |
NP_056099.3:p.Ser1576Leu |
57/9594 | 0.00297 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 44365379 | 44365379 | A > G | ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 TRNAN-GUU ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 ST3GAL3 |
NM_001270461.1:c.676A>G NM_001270462.1:c.583A>G NM_174968.3:c.886A>G NM_174969.2:c.676A>G NM_001270463.1:c.554+444A>G NM_001270464.1:c.509+444A>G NM_174967.2:c.397+5230A>G NM_001270465.1:c.*22+418A>G NM_001270466.1:c.255-30425A>G NR_073020.1:n.700+444A>G NR_073021.1:n.922+444A>G NM_001270460.1:c.631A>G NR_073023.1:n.588+5230A>G NM_001270459.1:c.724A>G NM_174966.2:c.724A>G NM_174965.2:c.442+5230A>G NM_174963.3:c.931A>G NM_174964.2:c.769A>G NR_073019.1:n.763A>G NR_073018.1:n.1088A>G NR_073017.1:n.824A>G NR_073016.1:n.947A>G NM_006279.3:c.724A>G NM_174971.3:c.838A>G NM_174970.2:c.349+5230A>G |
NP_001257390.1:p.Ile226Val NP_001257391.1:p.Ile195Val NP_777628.2:p.Ile296Val NP_777629.1:p.Ile226Val NP_001257389.1:p.Ile211Val NP_001257388.1:p.Ile242Val NP_777626.1:p.Ile242Val NP_777623.2:p.Ile311Val NP_777624.1:p.Ile257Val NP_006270.1:p.Ile242Val NP_777631.2:p.Ile280Val |
3/11422 | 0.00013 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 45292607 | 45292607 | C > T | TRNAN-GUU PTCH2 PTCH2 |
NM_003738.4:c.2662G>A NM_001166292.1:c.2662G>A |
NP_003729.3:p.Asp888Asn NP_001159764.1:p.Asp888Asn |
4/9594 | 0.00021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 45297377 | 45297377 | C > T | TRNAN-GUU PTCH2 PTCH2 |
NM_003738.4:c.617+1G>A NM_001166292.1:c.617+1G>A |
2/9594 | 0.0001 | 2 | donor_site | Uncertain Significance | |

View | 1 | 45974002 | 45974002 | G > A | TRNAN-GUU MMACHC |
NM_015506.2:c.395G>A |
NP_056321.2:p.Arg132Gln |
8/11422 | 0.00035 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 47746237 | 47746237 | A > C | STIL TRNAN-GUU STIL |
NM_001048166.1:c.1893T>G NM_003035.2:c.1893T>G |
NP_001041631.1:p.Asp631Glu NP_003026.2:p.Asp631Glu |
3/9594 | 0.00016 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 47746352 | 47746352 | G > C | STIL TRNAN-GUU STIL |
NM_001048166.1:c.1778C>G NM_003035.2:c.1778C>G |
NP_001041631.1:p.Pro593Arg NP_003026.2:p.Pro593Arg |
4/9594 | 0.00021 | 3 | non_synonymous | Uncertain Significance |

View | 1 | 52849092 | 52849092 | C > G | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.2013G>C NM_004153.3:c.2013G>C NM_001190819.1:c.1998G>C |
NP_001177747.1:p.Leu671= NP_004144.2:p.Leu671= NP_001177748.1:p.Leu666= |
3/9594 | 0.00016 | 3 | five_prime_exonic | Uncertain Significance |

View | 1 | 52850256 | 52850256 | G > A | ORC1 TRNAN-GUU ORC1 ORC1 |
NM_001190818.1:c.1721C>T NM_004153.3:c.1721C>T NM_001190819.1:c.1706C>T |
NP_001177747.1:p.Thr574Met NP_004144.2:p.Thr574Met NP_001177748.1:p.Thr569Met |
5/9594 | 0.00026 | 3 | Uncertain Significance | |

View | 1 | 53446095 | 53446096 | - > C | TRNAN-GUU SCP2 SCP2 SCP2 SCP2 SCP2 |
NM_002979.4:c.854dupC NM_001193600.1:c.722dupC NM_001007098.2:c.722dupC NM_001193617.1:c.611dupC NM_001193599.1:c.782dupC |
NP_002970.2:p.Arg286LysfsTer5 NP_001180529.1:p.Arg242LysfsTer5 NP_001007099.1:p.Arg242LysfsTer5 NP_001180546.1:p.Arg205LysfsTer5 NP_001180528.1:p.Arg262LysfsTer5 |
2/9594 | 0.0001 | 3 | frameshift | Uncertain Significance |

View | 1 | 53675699 | 53675699 | A > G | TRNAN-GUU CPT2 |
NM_000098.2:c.353A>G |
NP_000089.1:p.Asp118Gly |
38/11422 | 0.00166 | 3 | non_synonymous | Uncertain Significance |