ERS14396781 SAMEA112285935 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp and c.3514_3515delinsTGAAA, p.Gly1172Ter, compound heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112285935 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 22_COL4A4_compound_htz common name human germline Y sample name 22_COL4A4_compound_htz scientific_name Homo sapiens tissue_type blood ERS14396814 SAMEA112285968 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112285968 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 26_COL4A4_htz common name human germline Y sample name 26_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396840 SAMEA112285994 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112285994 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 52_COL4A4_htz common name human germline Y sample name 52_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396848 SAMEA112286002 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112286002 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 60_COL4A4_htz common name human germline Y sample name 60_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396849 SAMEA112286003 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112286003 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 61_COL4A4_htz common name human germline Y sample name 61_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396879 SAMEA112286033 9606 Homo sapiens COL4A3, c.415G>C, p.Gly139Arg heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112286033 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 9_COL4A3_htz common name human germline Y sample name 9_COL4A3_htz scientific_name Homo sapiens tissue_type blood ERS14396882 SAMEA112286036 9606 Homo sapiens COL4A3, c.415G>C, p.Gly139Arg heterozygous ENA-FIRST-PUBLIC 2023-02-07T00:19:57Z ENA-LAST-UPDATE 2023-02-07T00:19:57Z External Id SAMEA112286036 INSDC center name University Hospital Ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 12_COL4A3_htz common name human germline Y sample name 12_COL4A3_htz scientific_name Homo sapiens tissue_type blood ERS14396780 SAMEA112285934 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp and c.3707G>A, p.Gly1236Glu, compound heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112285934 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 21_COL4A4_compound_htz common name human germline Y sample name 21_COL4A4_compound_htz scientific_name Homo sapiens tissue_type blood ERS14396782 SAMEA112285936 9606 Homo sapiens COL4A3, c.415G>C, p.Gly139Arg homozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112285936 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 1_COL4A3_homo common name human germline Y sample name 1_COL4A3_homo scientific_name Homo sapiens tissue_type blood ERS14396843 SAMEA112285997 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112285997 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 55_COL4A4_htz common name human germline Y sample name 55_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396852 SAMEA112286006 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA-FIRST-PUBLIC 2023-02-07 ENA-LAST-UPDATE 2023-02-07 External Id SAMEA112286006 INSDC center alias University Hospital Ostrava INSDC center name university hospital ostrava INSDC first public 2023-02-07T00:19:57Z INSDC last update 2023-02-07T00:19:57Z INSDC status public Submitter Id 64_COL4A4_htz common name human germline Y sample name 64_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396774 SRS23700204 SAMEA112285928 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp homozygous ENA first public 2024-01-01 External Id SAMEA112285928 INSDC center name University Hospital Ostrava INSDC last update 2023-01-03T15:38:33Z INSDC status public Submitter Id 15_COL4A4_homo common name human germline Y sample name 15_COL4A4_homo scientific_name Homo sapiens tissue_type blood ERS14396855 SRS23700205 SAMEA112286009 9606 Homo sapiens COL4A4, c.1598G>A, p.Gly533Asp heterozygous ENA first public 2024-01-01 External Id SAMEA112286009 INSDC center name University Hospital Ostrava INSDC last update 2023-01-03T15:38:34Z INSDC status public Submitter Id 67_COL4A4_htz common name human germline Y sample name 67_COL4A4_htz scientific_name Homo sapiens tissue_type blood ERS14396909 SAMEA112286063 9606 Homo sapiens human negative for COL4A4, c.1598G>A, p.Gly533Asp, COL4A3, c.415G>C, p.Gly139Arg germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396864 SAMEA112286018 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396769 SAMEA112285923 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396858 SAMEA112286012 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396859 SAMEA112286013 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396846 SAMEA112286000 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396766 SAMEA112285920 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396857 SAMEA112286011 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396850 SAMEA112286004 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396844 SAMEA112285998 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396787 SAMEA112285941 9606 Homo sapiens human COL4A3, c.415G>C, p.Gly139Arg homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396767 SAMEA112285921 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396856 SAMEA112286010 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396865 SAMEA112286019 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396854 SAMEA112286008 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396863 SAMEA112286017 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396851 SAMEA112286005 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396784 SAMEA112285938 9606 Homo sapiens human COL4A3, c.415G>C, p.Gly139Arg homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396847 SAMEA112286001 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396911 SAMEA112286065 9606 Homo sapiens human negative for COL4A4, c.1598G>A, p.Gly533Asp, COL4A3, c.415G>C, p.Gly139Arg germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396768 SAMEA112285922 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396778 SAMEA112285932 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396910 SAMEA112286064 9606 Homo sapiens human negative for COL4A4, c.1598G>A, p.Gly533Asp, COL4A3, c.415G>C, p.Gly139Arg germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396845 SAMEA112285999 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396862 SAMEA112286016 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396775 SAMEA112285929 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396788 SAMEA112285942 9606 Homo sapiens human COL4A3, c.415G>C, p.Gly139Arg homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396907 SAMEA112286061 9606 Homo sapiens human negative for COL4A4, c.1598G>A, p.Gly533Asp, COL4A3, c.415G>C, p.Gly139Arg germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396770 SAMEA112285924 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396906 SAMEA112286060 9606 Homo sapiens human negative for COL4A4, c.1598G>A, p.Gly533Asp, COL4A3, c.415G>C, p.Gly139Arg germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396773 SAMEA112285927 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396779 SAMEA112285933 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396786 SAMEA112285940 9606 Homo sapiens human COL4A3, c.415G>C, p.Gly139Arg homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396772 SAMEA112285926 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396853 SAMEA112286007 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396777 SAMEA112285931 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396861 SAMEA112286015 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396783 SAMEA112285937 9606 Homo sapiens human COL4A3, c.415G>C, p.Gly139Arg homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396771 SAMEA112285925 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396776 SAMEA112285930 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396860 SAMEA112286014 9606 Homo sapiens human COL4A4, c.1598G>A, p.Gly533Asp heterozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396785 SAMEA112285939 9606 Homo sapiens human COL4A3, c.415G>C, p.Gly139Arg homozygous germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03 ERS14396908 SAMEA112286062 9606 Homo sapiens human negative for COL4A4, c.1598G>A, p.Gly533Asp, COL4A3, c.415G>C, p.Gly139Arg germline Y organism Homo sapiens scientific_name Homo sapiens common name human tissue_type blood ENA-LAST-UPDATE 2023-01-03