Search by Gene
| Item | Value |
|---|---|
| geneid | 10347 |
| ensemblid | ENSG00000064687.13 |
| hgncid | 37 |
| symbol | ABCA7 |
| name | ATP binding cassette subfamily A member 7 |
| refseq_nuc | NM_019112.4 |
| refseq_prot | NP_061985.2 |
| ensembl_nuc | ENST00000263094.11 |
| ensembl_prot | ENSP00000263094.6 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 1040107 |
| end | 1065572 |
| strand | + |
| ver | v1.2 |
| region | chr19:1040107-1065572 |
| region5000 | chr19:1035107-1070572 |
| regionname0 | ABCA7_chr19_1040107_1065572 |
| regionname5000 | ABCA7_chr19_1035107_1070572 |
Multiple Alignments (by translate haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
Multiple Alignments (by aa haplotype frequency)
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 2146 | 7 | 0 | 1 | 5 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0002 | 0/1 | 2146 | 4 | 0 | 0 | 0 | 2 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0003 | 0/0 | 2146 | 2 | 1 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0004 | 0/0 | 2146 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0005 | 0/0 | 2146 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0006 | 0/0 | 2146 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0007 | 0/0 | 2146 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0008 | 0/0 | 2146 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0009 | 0/0 | 2146 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0010 | 0/0 | 2146 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0011 | 0/0 | 2146 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0012 | 0/0 | 2146 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0013 | 0/0 | 2146 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0014 | 0/0 | 2146 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0015 | 0/0 | 2146 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0016 | 0/0 | 2146 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0017 | 0/0 | 2146 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0018 | 0/0 | 2146 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| a0019 | 0/0 | 2146 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | MAFWT others(2141): Show |
chr19 | 1035107 | 1070572 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 6438 | 5 | 0 | 1 | 4 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0001c0002 | 1/0 | 6438 | 2 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0002c0003 | 0/0 | 6438 | 2 | 0 | 0 | 0 | 1 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0002c0009 | 0/0 | 6438 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0002c0011 | 0/1 | 6438 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0003c0004 | 0/0 | 6438 | 2 | 1 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0004c0005 | 0/0 | 6438 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0005c0017 | 0/0 | 6438 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0006c0019 | 0/0 | 6438 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0007c0021 | 0/0 | 6438 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0008c0022 | 0/0 | 6438 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0009c0010 | 0/0 | 6438 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0010c0008 | 0/0 | 6438 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0011c0020 | 0/0 | 6438 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0012c0018 | 0/0 | 6438 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0013c0012 | 0/0 | 6438 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0014c0015 | 0/0 | 6438 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0015c0016 | 0/0 | 6438 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0016c0006 | 0/0 | 6438 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0017c0014 | 0/0 | 6438 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0018c0007 | 0/0 | 6438 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 | ||
| a0019c0013 | 0/0 | 6438 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | ATGGC others(6433): Show |
chr19 | 1035107 | 1070572 |
| acthapid | grch38/chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0003 | 0/0 | 6815 | 5 | 0 | 1 | 4 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0001c0002t0002 | 1/0 | 6815 | 2 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0002c0003t0001 | 0/0 | 6815 | 2 | 0 | 0 | 0 | 1 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0002c0009t0001 | 0/0 | 6815 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0002c0011t0001 | 0/1 | 6815 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0003c0004t0001 | 0/0 | 6815 | 2 | 1 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0004c0005t0002 | 0/0 | 6815 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0005c0017t0001 | 0/0 | 6815 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0006c0019t0002 | 0/0 | 6815 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0007c0021t0001 | 0/0 | 6815 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0008c0022t0001 | 0/0 | 6815 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0009c0010t0001 | 0/0 | 6815 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0010c0008t0002 | 0/0 | 6815 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0011c0020t0002 | 0/0 | 6815 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0012c0018t0001 | 0/0 | 6815 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0013c0012t0001 | 0/0 | 6815 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0014c0015t0001 | 0/0 | 6815 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0015c0016t0001 | 0/0 | 6815 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0016c0006t0002 | 0/0 | 6815 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0017c0014t0002 | 0/0 | 6815 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0018c0007t0002 | 0/0 | 6815 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| a0019c0013t0002 | 0/0 | 6815 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | AAGCT others(6810): Show |
chr19 | 1035107 | 1070572 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0003g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0001c0001t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0001c0001t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0001c0001t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0001c0002t0002g0010 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0001c0002t0002g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0002c0003t0001g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0002c0003t0001g0009 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0002c0009t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0002c0011t0001g0012 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0003c0004t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0003c0004t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0004c0005t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0004c0005t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0005c0017t0001g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0006c0019t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0007c0021t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0008c0022t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0009c0010t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0010c0008t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0011c0020t0002g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0012c0018t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0013c0012t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0014c0015t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0015c0016t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0016c0006t0002g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0017c0014t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0018c0007t0002g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| a0019c0013t0002g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| sampleid | haplotypeid | ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00673 | hp1 | a0003 | c0004 | t0001 | g0023 | EAS | CHS | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG00673 | hp2 | a0001 | c0001 | t0003 | g0016 | EAS | CHS | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG01071 | hp1 | a0001 | c0001 | t0003 | g0015 | AMR | PUR | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG01071 | hp2 | a0005 | c0017 | t0001 | g0027 | AMR | PUR | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02071 | hp1 | a0006 | c0019 | t0002 | g0029 | EAS | KHV | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02071 | hp2 | a0001 | c0001 | t0003 | g0017 | EAS | KHV | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02145 | hp1 | a0003 | c0004 | t0001 | g0021 | AFR | ACB | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02145 | hp2 | a0004 | c0005 | t0002 | g0003 | AFR | ACB | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02451 | hp1 | a0007 | c0021 | t0001 | g0001 | AFR | ACB | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02451 | hp2 | a0008 | c0022 | t0001 | g0004 | AFR | ACB | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02723 | hp1 | a0009 | c0010 | t0001 | g0013 | AFR | GWD | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02723 | hp2 | a0010 | c0008 | t0002 | g0014 | AFR | GWD | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02970 | hp1 | a0004 | c0005 | t0002 | g0002 | AFR | ESN | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG02970 | hp2 | a0011 | c0020 | t0002 | g0020 | AFR | ESN | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG03688 | hp1 | a0012 | c0018 | t0001 | g0028 | SAS | STU | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| HG03688 | hp2 | a0013 | c0012 | t0001 | g0026 | SAS | STU | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA18970 | hp1 | a0014 | c0015 | t0001 | g0022 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA18970 | hp2 | a0001 | c0002 | t0002 | g0011 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA18983 | hp1 | a0015 | c0016 | t0001 | g0024 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA18983 | hp2 | a0016 | c0006 | t0002 | g0006 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA19066 | hp1 | a0017 | c0014 | t0002 | g0025 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA19066 | hp2 | a0001 | c0001 | t0003 | g0019 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA19079 | hp1 | a0001 | c0001 | t0003 | g0018 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA19079 | hp2 | a0018 | c0007 | t0002 | g0005 | EAS | JPT | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA20805 | hp1 | a0002 | c0009 | t0001 | g0008 | EUR | TSI | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA20805 | hp2 | a0002 | c0003 | t0001 | g0009 | EUR | TSI | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA20905 | hp1 | a0002 | c0003 | t0001 | g0007 | SAS | GIH | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| NA20905 | hp2 | a0019 | c0013 | t0002 | g0030 | SAS | GIH | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| homoSapiens | chm13v2 | a0002 | c0011 | t0001 | g0012 | REF | REF | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0002 | g0010 | REF | REF | ABCA7_chr19_1035107_1070572 | ABCA7 | chr19 | 1035107 | 1070572 |
| view | chr:pos | ref | alt | # # of ahapid:amio-acid(protein) level
|
ahapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:1042810 | A | G | 9 | a0003a0005a0006others(6): Show | 10 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(7): Show |
missense_variant | MODERATE | c.563A>G | p.Glu188Gly | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 7/47 | 790/6815 | 563/6441 | 188/2146 | chr19 | 1042810 | |||
| chr19:1043104 | G | A | 1 | a0013 | 1 | HG03688.hp2 | missense_variant | MODERATE | c.643G>A | p.Gly215Ser | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 8/47 | 870/6815 | 643/6441 | 215/2146 | chr19 | 1043104 | |||
| chr19:1043749 | A | G | 4 | a0004a0007a0008others(1): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
missense_variant | MODERATE | c.955A>G | p.Thr319Ala | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/47 | 1182/6815 | 955/6441 | 319/2146 | chr19 | 1043749 | |||
| chr19:1044713 | A | G | 4 | a0004a0007a0008others(1): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
missense_variant | MODERATE | c.1184A>G | p.His395Arg | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 11/47 | 1411/6815 | 1184/6441 | 395/2146 | chr19 | 1044713 | |||
| chr19:1045027 | C | G | 2 | a0004a0007 | 3 | HG02145.hp2 HG02451.hp1 HG02970.hp1 |
missense_variant | MODERATE | c.1241C>G | p.Ala414Gly | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/47 | 1468/6815 | 1241/6441 | 414/2146 | chr19 | 1045027 | |||
| chr19:1045174 | G | A | 2 | a0016a0018 | 2 | NA18983.hp2 NA19079.hp2 |
missense_variant | MODERATE | c.1388G>A | p.Arg463His | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/47 | 1615/6815 | 1388/6441 | 463/2146 | chr19 | 1045174 | |||
| chr19:1046405 | G | A | 1 | a0008 | 1 | HG02451.hp2 | missense_variant&splice_region_variant | MODERATE | c.1621G>A | p.Val541Met | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 13/47 | 1848/6815 | 1621/6441 | 541/2146 | chr19 | 1046405 | |||
| chr19:1047538 | A | C | 2 | a0016a0018 | 2 | NA18983.hp2 NA19079.hp2 |
missense_variant | MODERATE | c.2153A>C | p.Asn718Thr | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/47 | 2380/6815 | 2153/6441 | 718/2146 | chr19 | 1047538 | |||
| chr19:1049394 | A | C | 1 | a0015 | 1 | NA18983.hp1 | missense_variant | MODERATE | c.2509A>C | p.Thr837Pro | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/47 | 2736/6815 | 2509/6441 | 837/2146 | chr19 | 1049394 | |||
| chr19:1049397 | G | A | 1 | a0014 | 1 | NA18970.hp1 | missense_variant | MODERATE | c.2512G>A | p.Ala838Thr | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/47 | 2739/6815 | 2512/6441 | 838/2146 | chr19 | 1049397 | |||
| chr19:1050997 | G | A | 1 | a0005 | 1 | HG01071.hp2 | missense_variant | MODERATE | c.2629G>A | p.Ala877Thr | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 19/47 | 2856/6815 | 2629/6441 | 877/2146 | chr19 | 1050997 | |||
| chr19:1051487 | G | T | 1 | a0009 | 1 | HG02723.hp1 | missense_variant | MODERATE | c.2863G>T | p.Val955Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 21/47 | 3090/6815 | 2863/6441 | 955/2146 | chr19 | 1051487 | |||
| chr19:1051488 | T | G | 1 | a0009 | 1 | HG02723.hp1 | missense_variant | MODERATE | c.2864T>G | p.Val955Gly | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 21/47 | 3091/6815 | 2864/6441 | 955/2146 | chr19 | 1051488 | |||
| chr19:1055192 | G | A | 6 | a0002a0003a0007others(3): Show | 9 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(6): Show |
missense_variant | MODERATE | c.4046G>A | p.Arg1349Gln | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/47 | 4273/6815 | 4046/6441 | 1349/2146 | chr19 | 1055192 | |||
| chr19:1056493 | G | C | 17 | a0002a0003a0004others(14): Show | 21 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(18): Show |
missense_variant | MODERATE | c.4580G>C | p.Gly1527Ala | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 33/47 | 4807/6815 | 4580/6441 | 1527/2146 | chr19 | 1056493 | |||
| chr19:1058177 | A | G | 2 | a0016a0017 | 2 | NA18983.hp2 NA19066.hp1 |
missense_variant | MODERATE | c.5057A>G | p.Gln1686Arg | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 37/47 | 5284/6815 | 5057/6441 | 1686/2146 | chr19 | 1058177 | |||
| chr19:1058860 | G | A | 1 | a0018 | 1 | NA19079.hp2 | missense_variant | MODERATE | c.5320G>A | p.Glu1774Lys | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 39/47 | 5547/6815 | 5320/6441 | 1774/2146 | chr19 | 1058860 | |||
| chr19:1065019 | G | T | 10 | a0002a0003a0005others(7): Show | 13 | HG00673.hp1 HG01071.hp2 HG02145.hp1 others(10): Show |
missense_variant | MODERATE | c.6133G>T | p.Ala2045Ser | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 46/47 | 6360/6815 | 6133/6441 | 2045/2146 | chr19 | 1065019 |
| view | chr:pos | ref | alt | # # of chapid
|
chapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:1041853 | G | T | 4 | a0004c0005a0007c0021a0008c0022others(1): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
synonymous_variant | LOW | c.183G>T | p.Leu61Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 4/47 | 410/6815 | 183/6441 | 61/2146 | chr19 | 1041853 | |||
| chr19:1043184 | C | T | 1 | a0008c0022 | 1 | HG02451.hp2 | synonymous_variant | LOW | c.723C>T | p.Tyr241Tyr | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 8/47 | 950/6815 | 723/6441 | 241/2146 | chr19 | 1043184 | |||
| chr19:1047003 | A | G | 13 | a0001c0001a0003c0004a0004c0005others(10): Show | 19 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(16): Show |
synonymous_variant | LOW | c.1824A>G | p.Ala608Ala | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 14/47 | 2051/6815 | 1824/6441 | 608/2146 | chr19 | 1047003 | |||
| chr19:1047162 | A | G | 14 | a0001c0001a0003c0004a0004c0005others(11): Show | 20 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(17): Show |
synonymous_variant | LOW | c.1851A>G | p.Gly617Gly | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 15/47 | 2078/6815 | 1851/6441 | 617/2146 | chr19 | 1047162 | |||
| chr19:1047318 | G | A | 1 | a0016c0006 | 1 | NA18983.hp2 | synonymous_variant | LOW | c.2007G>A | p.Leu669Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 15/47 | 2234/6815 | 2007/6441 | 669/2146 | chr19 | 1047318 | |||
| chr19:1049270 | G | A | 6 | a0001c0001a0004c0005a0007c0021others(3): Show | 11 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(8): Show |
synonymous_variant | LOW | c.2385G>A | p.Leu795Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/47 | 2612/6815 | 2385/6441 | 795/2146 | chr19 | 1049270 | |||
| chr19:1049306 | C | A | 3 | a0003c0004a0014c0015a0015c0016 | 4 | HG00673.hp1 HG02145.hp1 NA18970.hp1 others(1): Show |
synonymous_variant | LOW | c.2421C>A | p.Val807Val | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/47 | 2648/6815 | 2421/6441 | 807/2146 | chr19 | 1049306 | |||
| chr19:1051191 | G | C | 1 | a0017c0014 | 1 | NA19066.hp1 | synonymous_variant | LOW | c.2721G>C | p.Arg907Arg | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 20/47 | 2948/6815 | 2721/6441 | 907/2146 | chr19 | 1051191 | |||
| chr19:1051215 | A | G | 9 | a0004c0005a0005c0017a0006c0019others(6): Show | 10 | HG01071.hp2 HG02071.hp1 HG02145.hp2 others(7): Show |
synonymous_variant | LOW | c.2745A>G | p.Val915Val | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 20/47 | 2972/6815 | 2745/6441 | 915/2146 | chr19 | 1051215 | |||
| chr19:1051489 | G | T | 1 | a0009c0010 | 1 | HG02723.hp1 | synonymous_variant | LOW | c.2865G>T | p.Val955Val | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 21/47 | 3092/6815 | 2865/6441 | 955/2146 | chr19 | 1051489 | |||
| chr19:1052006 | C | T | 6 | a0002c0003a0002c0009a0003c0004others(3): Show | 8 | HG00673.hp1 HG02145.hp1 NA18970.hp1 others(5): Show |
synonymous_variant | LOW | c.3027C>T | p.Ala1009Ala | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 22/47 | 3254/6815 | 3027/6441 | 1009/2146 | chr19 | 1052006 | |||
| chr19:1052087 | G | A | 2 | a0009c0010a0010c0008 | 2 | HG02723.hp1 HG02723.hp2 |
synonymous_variant | LOW | c.3108G>A | p.Thr1036Thr | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 22/47 | 3335/6815 | 3108/6441 | 1036/2146 | chr19 | 1052087 | |||
| chr19:1053525 | C | G | 5 | a0002c0003a0016c0006a0017c0014others(2): Show | 6 | NA18983.hp2 NA19066.hp1 NA19079.hp2 others(3): Show |
synonymous_variant | LOW | c.3417C>G | p.Leu1139Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 24/47 | 3644/6815 | 3417/6441 | 1139/2146 | chr19 | 1053525 | |||
| chr19:1054061 | A | G | 11 | a0002c0003a0002c0009a0003c0004others(8): Show | 14 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(11): Show |
synonymous_variant | LOW | c.3528A>G | p.Leu1176Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 26/47 | 3755/6815 | 3528/6441 | 1176/2146 | chr19 | 1054061 | |||
| chr19:1056066 | A | G | 10 | a0002c0003a0002c0009a0003c0004others(7): Show | 13 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(10): Show |
splice_region_variant&synonymous_variant | LOW | c.4239A>G | p.Arg1413Arg | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 32/47 | 4466/6815 | 4239/6441 | 1413/2146 | chr19 | 1056066 | |||
| chr19:1056228 | T | C | 2 | a0008c0022a0009c0010 | 2 | HG02451.hp2 HG02723.hp1 |
synonymous_variant | LOW | c.4401T>C | p.Ala1467Ala | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 32/47 | 4628/6815 | 4401/6441 | 1467/2146 | chr19 | 1056228 | |||
| chr19:1056422 | G | A | 2 | a0008c0022a0009c0010 | 2 | HG02451.hp2 HG02723.hp1 |
synonymous_variant | LOW | c.4509G>A | p.Pro1503Pro | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 33/47 | 4736/6815 | 4509/6441 | 1503/2146 | chr19 | 1056422 | |||
| chr19:1061805 | T | C | 1 | a0019c0013 | 1 | NA20905.hp2 | synonymous_variant | LOW | c.5487T>C | p.Asn1829Asn | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 41/47 | 5714/6815 | 5487/6441 | 1829/2146 | chr19 | 1061805 | |||
| chr19:1061874 | G | A | 1 | a0012c0018 | 1 | HG03688.hp1 | synonymous_variant | LOW | c.5556G>A | p.Val1852Val | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 41/47 | 5783/6815 | 5556/6441 | 1852/2146 | chr19 | 1061874 | |||
| chr19:1062193 | T | C | 2 | a0016c0006a0017c0014 | 2 | NA18983.hp2 NA19066.hp1 |
synonymous_variant | LOW | c.5592T>C | p.Ala1864Ala | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/47 | 5819/6815 | 5592/6441 | 1864/2146 | chr19 | 1062193 | |||
| chr19:1064194 | G | A | 12 | a0002c0003a0002c0009a0003c0004others(9): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
synonymous_variant | LOW | c.5985G>A | p.Leu1995Leu | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/47 | 6212/6815 | 5985/6441 | 1995/2146 | chr19 | 1064194 | |||
| chr19:1065045 | C | T | 3 | a0005c0017a0012c0018a0013c0012 | 3 | HG01071.hp2 HG03688.hp1 HG03688.hp2 |
synonymous_variant | LOW | c.6159C>T | p.Gly2053Gly | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 46/47 | 6386/6815 | 6159/6441 | 2053/2146 | chr19 | 1065045 |
| view | chr:pos | ref | alt | # # of thapid:transcript level
|
thapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:1041353 | A | G | 1 | a0001c0001t0003 | 5 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-9A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 2/47 | 9 | chr19 | 1041353 | ||||||
| chr19:1065564 | G | C | 11 | a0002c0003t0001a0002c0009t0001a0003c0004t0001others(8): Show | 13 | HG00673.hp1 HG01071.hp2 HG02145.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*139G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 47/47 | 139 | chr19 | 1065564 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level
|
ghapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:1040383 | G | A | 4 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.-138+187G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | chr19 | 1040383 | |||||||
| chr19:1040721 | G | T | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-137-504G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | chr19 | 1040721 | |||||||
| chr19:1040745 | C | G | 3 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001 | 3 | HG02145.hp2 HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.-137-480C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | chr19 | 1040745 | |||||||
| chr19:1040766 | A | G | 10 | a0003c0004t0001g0021a0003c0004t0001g0023a0005c0017t0001g0027others(7): Show | 10 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.-137-459A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | chr19 | 1040766 | |||||||
| chr19:1040774 | A | G | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.-137-451A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | chr19 | 1040774 | |||||||
| chr19:1040965 | TG | T | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.-137-255delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr19 | 1040965 | ||||||
| chr19:1041165 | C | T | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.-137-60C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | chr19 | 1041165 | |||||||
| chr19:1042416 | A | AC | 2 | a0003c0004t0001g0021a0018c0007t0002g0005 | 2 | HG02145.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.498+21dupC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr19 | 1042416 | ||||||
| chr19:1042555 | G | T | 3 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001 | 3 | HG02145.hp2 HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.498+158G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 6/46 | chr19 | 1042555 | |||||||
| chr19:1042660 | G | A | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.499-86G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 6/46 | chr19 | 1042660 | |||||||
| chr19:1042851 | C | T | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.579+25C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 7/46 | chr19 | 1042851 | |||||||
| chr19:1043639 | C | T | 10 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(7): Show | 10 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.931-86C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 9/46 | chr19 | 1043639 | |||||||
| chr19:1043865 | G | C | 9 | a0003c0004t0001g0021a0003c0004t0001g0023a0005c0017t0001g0027others(6): Show | 9 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.1047+24G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1043865 | |||||||
| chr19:1043932 | C | T | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1047+91C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1043932 | |||||||
| chr19:1043937 | C | CT | 6 | a0001c0001t0003g0019a0004c0005t0002g0002a0004c0005t0002g0003others(3): Show | 6 | HG02145.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.1047+114dupT | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr19 | 1043937 | ||||||
| chr19:1043979 | C | G | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1047+138C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1043979 | |||||||
| chr19:1044097 | C | T | 4 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.1047+256C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1044097 | |||||||
| chr19:1044238 | CT | C | 5 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(2): Show | 5 | NA18983.hp2 NA20805.hp1 NA20805.hp2 others(2): Show |
intron_variant | MODIFIER | c.1048-314delT | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr19 | 1044238 | ||||||
| chr19:1044262 | T | A | 3 | a0003c0004t0001g0023a0014c0015t0001g0022a0015c0016t0001g0024 | 3 | HG00673.hp1 NA18970.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.1048-315T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1044262 | |||||||
| chr19:1044308 | C | T | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1048-269C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1044308 | |||||||
| chr19:1044329 | C | T | 5 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(2): Show | 5 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1048-248C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | chr19 | 1044329 | |||||||
| chr19:1044754 | T | C | 18 | a0001c0001t0003g0015a0003c0004t0001g0021a0003c0004t0001g0023others(15): Show | 18 | HG00673.hp1 HG01071.hp1 HG01071.hp2 others(15): Show |
intron_variant | MODIFIER | c.1215+10T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 11/46 | chr19 | 1044754 | |||||||
| chr19:1044923 | C | T | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1216-79C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 11/46 | chr19 | 1044923 | |||||||
| chr19:1044976 | C | G | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1216-26C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 11/46 | chr19 | 1044976 | |||||||
| chr19:1045374 | C | T | 2 | a0009c0010t0001g0013a0010c0008t0002g0014 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1445+143C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045374 | |||||||
| chr19:1045569 | T | A | 4 | a0003c0004t0001g0021a0003c0004t0001g0023a0014c0015t0001g0022others(1): Show | 4 | HG00673.hp1 HG02145.hp1 NA18970.hp1 others(1): Show |
intron_variant | MODIFIER | c.1445+338T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045569 | |||||||
| chr19:1045666 | G | C | 1 | a0003c0004t0001g0021 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1445+435G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045666 | |||||||
| chr19:1045766 | T | C | 18 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(15): Show | 18 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(15): Show |
intron_variant | MODIFIER | c.1446-464T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045766 | |||||||
| chr19:1045817 | G | A | 2 | a0009c0010t0001g0013a0010c0008t0002g0014 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.1446-413G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045817 | |||||||
| chr19:1045863 | C | T | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.1446-367C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045863 | |||||||
| chr19:1045974 | TCCAG | T | 5 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(2): Show | 5 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(2): Show |
intron_variant | MODIFIER | c.1446-253_1446-250d others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | INFO_REALIGN_3_PRIME | chr19 | 1045974 | ||||||
| chr19:1045986 | G | T | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1446-244G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1045986 | |||||||
| chr19:1046040 | C | T | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(2): Show | 5 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.1446-190C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 12/46 | chr19 | 1046040 | |||||||
| chr19:1046521 | T | G | 11 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(8): Show | 11 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(8): Show |
intron_variant | MODIFIER | c.1622+115T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 13/46 | chr19 | 1046521 | |||||||
| chr19:1046580 | TG | T | 7 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(4): Show | 7 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(4): Show |
intron_variant | MODIFIER | c.1622+184delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr19 | 1046580 | ||||||
| chr19:1046749 | A | AG | 6 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(3): Show | 6 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.1623-46dupG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr19 | 1046749 | ||||||
| chr19:1047040 | C | T | 1 | a0018c0007t0002g0005 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1845+16C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 14/46 | chr19 | 1047040 | |||||||
| chr19:1047079 | A | G | 11 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(8): Show | 11 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(8): Show |
intron_variant | MODIFIER | c.1845+55A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 14/46 | chr19 | 1047079 | |||||||
| chr19:1047688 | C | G | 6 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(3): Show | 6 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2269+34C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047688 | |||||||
| chr19:1047716 | G | C | 1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2269+62G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047716 | |||||||
| chr19:1047761 | C | A | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2269+107C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047761 | |||||||
| chr19:1047813 | G | T | 4 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001others(1): Show | 4 | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2269+159G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047813 | |||||||
| chr19:1047868 | C | T | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2269+214C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047868 | |||||||
| chr19:1047873 | T | A | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2269+219T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047873 | |||||||
| chr19:1047995 | G | C | 1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2269+341G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047995 | |||||||
| chr19:1047996 | C | G | 1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2269+342C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1047996 | |||||||
| chr19:1048022 | A | G | 11 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(8): Show | 11 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(8): Show |
intron_variant | MODIFIER | c.2269+368A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048022 | |||||||
| chr19:1048052 | G | T | 10 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(7): Show | 10 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2269+398G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048052 | |||||||
| chr19:1048117 | G | A | 6 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(3): Show | 6 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2269+463G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048117 | |||||||
| chr19:1048191 | TA | T | 11 | a0001c0001t0003g0015a0001c0001t0003g0017a0002c0003t0001g0007others(8): Show | 11 | HG00673.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.2269+558delA | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | 1048191 | ||||||
| chr19:1048191 | TAA | T | 3 | a0002c0003t0001g0009a0002c0009t0001g0008a0006c0019t0002g0029 | 3 | HG02071.hp1 NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2269+557_2269+558d others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | 1048191 | ||||||
| chr19:1048193 | A | T | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2269+539A>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048193 | |||||||
| chr19:1048264 | G | C | 2 | a0016c0006t0002g0006a0018c0007t0002g0005 | 2 | NA18983.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2269+610G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048264 | |||||||
| chr19:1048394 | G | A | 10 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(7): Show | 10 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2270-501G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048394 | |||||||
| chr19:1048470 | T | G | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2270-425T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048470 | |||||||
| chr19:1048496 | C | CAAAAAAA others(7): Show |
1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2270-386_2270-385i others(16): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | 1048496 | ||||||
| chr19:1048496 | C | CAAAAAAA others(3): Show |
2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2270-391_2270-390i others(12): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | 1048496 | ||||||
| chr19:1048506 | AAAAC | A | 5 | a0001c0001t0003g0015a0001c0001t0003g0017a0001c0001t0003g0018others(2): Show | 5 | HG01071.hp1 HG02071.hp2 NA19066.hp1 others(2): Show |
intron_variant | MODIFIER | c.2270-385_2270-382d others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | 1048506 | ||||||
| chr19:1048509 | AC | A | 3 | a0005c0017t0001g0027a0012c0018t0001g0028a0013c0012t0001g0026 | 3 | HG01071.hp2 HG03688.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.2270-385delC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048509 | |||||||
| chr19:1048510 | C | A | 14 | a0002c0003t0001g0009a0002c0009t0001g0008a0003c0004t0001g0021others(11): Show | 14 | HG00673.hp1 HG02071.hp1 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.2270-385C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048510 | |||||||
| chr19:1048663 | T | G | 23 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(20): Show | 23 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(20): Show |
intron_variant | MODIFIER | c.2270-232T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048663 | |||||||
| chr19:1048692 | C | T | 3 | a0001c0001t0003g0018a0001c0001t0003g0019a0017c0014t0002g0025 | 3 | NA19066.hp1 NA19066.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.2270-203C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048692 | |||||||
| chr19:1048808 | C | CA | 7 | a0001c0001t0003g0015a0001c0001t0003g0017a0001c0001t0003g0018others(4): Show | 7 | HG01071.hp1 HG02071.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.2270-72dupA | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | 1048808 | ||||||
| chr19:1048823 | AC | A | 3 | a0004c0005t0002g0003a0007c0021t0001g0001a0008c0022t0001g0004 | 3 | HG02145.hp2 HG02451.hp1 HG02451.hp2 |
intron_variant | MODIFIER | c.2270-71delC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048823 | |||||||
| chr19:1048824 | C | A | 5 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(2): Show | 5 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.2270-71C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048824 | |||||||
| chr19:1048829 | C | A | 3 | a0004c0005t0002g0002a0004c0005t0002g0003a0007c0021t0001g0001 | 3 | HG02145.hp2 HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2270-66C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048829 | |||||||
| chr19:1048833 | A | C | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2270-62A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048833 | |||||||
| chr19:1048840 | G | A | 1 | a0018c0007t0002g0005 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2270-55G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | 1048840 | |||||||
| chr19:1049013 | A | C | 25 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(22): Show | 25 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(22): Show |
splice_region_variant&intron_variant | LOW | c.2380+8A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 17/46 | chr19 | 1049013 | |||||||
| chr19:1049165 | C | T | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2381-101C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 17/46 | chr19 | 1049165 | |||||||
| chr19:1049166 | C | T | 14 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(11): Show | 14 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.2381-100C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 17/46 | chr19 | 1049166 | |||||||
| chr19:1049230 | A | C | 1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2381-36A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 17/46 | chr19 | 1049230 | |||||||
| chr19:1049231 | T | A | 1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2381-35T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 17/46 | chr19 | 1049231 | |||||||
| chr19:1049467 | G | GGCC | 2 | a0017c0014t0002g0025a0018c0007t0002g0005 | 2 | NA19066.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.2552+30_2552+31ins others(3): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049467 | |||||||
| chr19:1049467 | G | GGCCCCCC others(202): Show |
1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2552+30_2552+31ins others(209): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049467 | |||||||
| chr19:1049472 | C | A | 3 | a0016c0006t0002g0006a0017c0014t0002g0025a0018c0007t0002g0005 | 3 | NA18983.hp2 NA19066.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.2552+35C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049472 | |||||||
| chr19:1049472 | C | CCA | 9 | a0001c0001t0003g0016a0001c0001t0003g0017a0003c0004t0001g0021others(6): Show | 9 | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.2552+36_2552+37ins others(2): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049472 | ||||||
| chr19:1049472 | C | CCACCACT others(98): Show |
1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+36_2552+37ins others(105): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049472 | ||||||
| chr19:1049476 | C | G | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2552+39C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049476 | |||||||
| chr19:1049481 | A | ACCCCGTG others(20): Show |
3 | a0001c0001t0003g0019a0004c0005t0002g0002a0007c0021t0001g0001 | 3 | HG02451.hp1 HG02970.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.2552+54_2552+55ins others(27): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049481 | ||||||
| chr19:1049481 | A | T | 14 | a0001c0001t0003g0016a0001c0001t0003g0017a0003c0004t0001g0021others(11): Show | 14 | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.2552+44A>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049481 | |||||||
| chr19:1049485 | C | T | 1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2552+48C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049485 | |||||||
| chr19:1049490 | G | GCTGCCCC others(506): Show |
1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2552+54_2552+55ins others(513): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049490 | ||||||
| chr19:1049490 | G | GCTGCCCC others(49): Show |
1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2552+54_2552+55ins others(56): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049490 | ||||||
| chr19:1049490 | G | GCTGCCCC others(380): Show |
1 | a0004c0005t0002g0003 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2552+54_2552+55ins others(387): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049490 | ||||||
| chr19:1049490 | GC | G | 7 | a0003c0004t0001g0021a0003c0004t0001g0023a0005c0017t0001g0027others(4): Show | 7 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.2552+60delC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049490 | ||||||
| chr19:1049491 | C | CCCCCCCA others(94): Show |
1 | a0001c0001t0003g0016 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2552+62_2552+63ins others(101): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049491 | ||||||
| chr19:1049491 | C | CT | 4 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(1): Show | 4 | NA20805.hp1 NA20805.hp2 NA20905.hp1 others(1): Show |
intron_variant | MODIFIER | c.2552+54_2552+55ins others(1): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049491 | |||||||
| chr19:1049491 | C | CTGCCCCC others(71): Show |
1 | a0001c0001t0003g0018 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2552+54_2552+55ins others(78): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049491 | |||||||
| chr19:1049491 | C | CTGCCCCC others(1114): Show |
1 | a0001c0001t0003g0015 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.2552+54_2552+55ins others(1121): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049491 | |||||||
| chr19:1049491 | C | G | 2 | a0017c0014t0002g0025a0018c0007t0002g0005 | 2 | NA19066.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.2552+54C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049491 | |||||||
| chr19:1049492 | C | G | 11 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(8): Show | 11 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(8): Show |
intron_variant | MODIFIER | c.2552+55C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049492 | |||||||
| chr19:1049511 | C | T | 2 | a0016c0006t0002g0006a0019c0013t0002g0030 | 2 | NA18983.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.2552+74C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049511 | |||||||
| chr19:1049512 | G | A | 1 | a0001c0001t0003g0017 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2552+75G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049512 | |||||||
| chr19:1049515 | A | AACCCCCC others(19): Show |
1 | a0001c0001t0003g0017 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2552+78_2552+79ins others(26): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049515 | |||||||
| chr19:1049515 | A | AG | 8 | a0001c0001t0003g0016a0001c0001t0003g0018a0001c0001t0003g0019others(5): Show | 8 | HG00673.hp2 HG02145.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.2552+79dupG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049515 | ||||||
| chr19:1049516 | G | A | 9 | a0003c0004t0001g0021a0005c0017t0001g0027a0006c0019t0002g0029others(6): Show | 9 | HG01071.hp2 HG02071.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.2552+79G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049516 | |||||||
| chr19:1049517 | C | A | 1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2552+80C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049517 | |||||||
| chr19:1049517 | C | G | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2552+80C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049517 | |||||||
| chr19:1049518 | CCCCCACC others(195): Show |
C | 1 | a0002c0003t0001g0007 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2552+86_2552+287de others(1): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049518 | ||||||
| chr19:1049536 | C | CGTGAGCC others(1171): Show |
1 | a0001c0001t0003g0017 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2552+103_2552+104i others(1180): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049536 | ||||||
| chr19:1049536 | C | T | 2 | a0015c0016t0001g0024a0019c0013t0002g0030 | 2 | NA18983.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.2552+99C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049536 | |||||||
| chr19:1049537 | G | A | 3 | a0004c0005t0002g0002a0007c0021t0001g0001a0011c0020t0002g0020 | 3 | HG02451.hp1 HG02970.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2552+100G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049537 | |||||||
| chr19:1049541 | A | C | 1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+104A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049541 | |||||||
| chr19:1049541 | A | G | 2 | a0002c0003t0001g0009a0002c0009t0001g0008 | 2 | NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2552+104A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049541 | |||||||
| chr19:1049541 | A | T | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2552+104A>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049541 | |||||||
| chr19:1049542 | C | T | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2552+105C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049542 | |||||||
| chr19:1049547 | C | CACCACTC others(124): Show |
1 | a0014c0015t0001g0022 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2552+128_2552+129i others(133): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049547 | ||||||
| chr19:1049551 | A | G | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2552+114A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049551 | |||||||
| chr19:1049561 | C | T | 6 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(3): Show | 6 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.2552+124C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049561 | |||||||
| chr19:1049562 | G | A | 1 | a0001c0001t0003g0019 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2552+125G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049562 | |||||||
| chr19:1049566 | G | A | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2552+129G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049566 | |||||||
| chr19:1049567 | C | A | 1 | a0001c0001t0003g0019 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2552+130C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049567 | |||||||
| chr19:1049567 | C | CCCCCCCA others(1713): Show |
1 | a0001c0002t0002g0011 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.2552+161_2552+162i others(1722): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049567 | ||||||
| chr19:1049567 | C | CCCCCCCC others(362): Show |
1 | a0003c0004t0001g0021 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2552+136_2552+137i others(371): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049567 | ||||||
| chr19:1049567 | C | G | 3 | a0004c0005t0002g0003a0011c0020t0002g0020a0014c0015t0001g0022 | 3 | HG02145.hp2 HG02970.hp2 NA18970.hp1 |
intron_variant | MODIFIER | c.2552+130C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049567 | |||||||
| chr19:1049568 | C | G | 1 | a0002c0003t0001g0009 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2552+131C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049568 | |||||||
| chr19:1049569 | C | CCCCACCA others(71): Show |
1 | a0017c0014t0002g0025 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2552+135_2552+136i others(80): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049569 | ||||||
| chr19:1049569 | C | G | 1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2552+132C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049569 | |||||||
| chr19:1049573 | C | G | 1 | a0001c0001t0003g0017 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2552+136C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049573 | |||||||
| chr19:1049575 | C | CCACTCCC others(301): Show |
1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2552+151_2552+152i others(310): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049575 | ||||||
| chr19:1049587 | C | T | 2 | a0014c0015t0001g0022a0016c0006t0002g0006 | 2 | NA18970.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.2552+150C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049587 | |||||||
| chr19:1049587 | CGTGAGCC others(300): Show |
C | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2552+162_2552+468d others(2): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049587 | ||||||
| chr19:1049588 | G | A | 1 | a0004c0005t0002g0003 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2552+151G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049588 | |||||||
| chr19:1049591 | A | AACCCCCC others(675): Show |
1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2552+154_2552+155i others(684): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049591 | |||||||
| chr19:1049591 | A | AG | 5 | a0001c0001t0003g0017a0004c0005t0002g0002a0007c0021t0001g0001others(2): Show | 5 | HG02071.hp2 HG02451.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+155dupG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049591 | ||||||
| chr19:1049591 | A | AGCCCCCC others(1870): Show |
1 | a0005c0017t0001g0027 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2552+179_2552+180i others(1879): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049591 | ||||||
| chr19:1049591 | A | AGCCCCCC others(254): Show |
1 | a0001c0001t0003g0018 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2552+161_2552+162i others(263): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049591 | ||||||
| chr19:1049592 | G | A | 8 | a0001c0001t0003g0015a0001c0001t0003g0016a0002c0003t0001g0009others(5): Show | 8 | HG00673.hp2 HG01071.hp1 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.2552+155G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049592 | |||||||
| chr19:1049592 | G | GC | 4 | a0001c0001t0003g0019a0012c0018t0001g0028a0013c0012t0001g0026others(1): Show | 4 | HG03688.hp1 HG03688.hp2 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.2552+161dupC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049592 | ||||||
| chr19:1049592 | G | GCCCCCCC others(94): Show |
1 | a0006c0019t0002g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2552+161_2552+162i others(103): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049592 | ||||||
| chr19:1049592 | G | GCCCCCCG others(230): Show |
1 | a0018c0007t0002g0005 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2552+161_2552+162i others(239): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049592 | ||||||
| chr19:1049596 | C | A | 1 | a0007c0021t0001g0001 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2552+159C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049596 | |||||||
| chr19:1049598 | C | G | 1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2552+161C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049598 | |||||||
| chr19:1049602 | A | G | 2 | a0002c0003t0001g0009a0002c0009t0001g0008 | 2 | NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2552+165A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049602 | |||||||
| chr19:1049612 | C | T | 4 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(1): Show | 4 | HG00673.hp2 HG02071.hp2 NA18983.hp2 others(1): Show |
intron_variant | MODIFIER | c.2552+175C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049612 | |||||||
| chr19:1049613 | G | A | 2 | a0004c0005t0002g0002a0007c0021t0001g0001 | 2 | HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2552+176G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049613 | |||||||
| chr19:1049616 | A | AG | 7 | a0001c0001t0003g0019a0001c0002t0002g0011a0002c0003t0001g0009others(4): Show | 7 | HG02145.hp2 NA18970.hp2 NA19066.hp1 others(4): Show |
intron_variant | MODIFIER | c.2552+179_2552+180i others(3): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049616 | |||||||
| chr19:1049616 | A | AGCCCCCC others(73): Show |
1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2552+179_2552+180i others(82): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049616 | |||||||
| chr19:1049617 | A | ACCCCCCA others(44): Show |
1 | a0001c0001t0003g0015 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.2552+204_2552+205i others(53): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049617 | ||||||
| chr19:1049617 | A | C | 4 | a0001c0002t0002g0011a0016c0006t0002g0006a0017c0014t0002g0025others(1): Show | 4 | NA18970.hp2 NA18983.hp2 NA19066.hp1 others(1): Show |
intron_variant | MODIFIER | c.2552+180A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049617 | |||||||
| chr19:1049617 | A | G | 7 | a0001c0001t0003g0016a0001c0001t0003g0019a0004c0005t0002g0003others(4): Show | 7 | HG00673.hp2 HG01071.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.2552+180A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049617 | |||||||
| chr19:1049617 | A | T | 2 | a0002c0003t0001g0009a0002c0009t0001g0008 | 2 | NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2552+180A>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049617 | |||||||
| chr19:1049618 | C | G | 2 | a0012c0018t0001g0028a0013c0012t0001g0026 | 2 | HG03688.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.2552+181C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049618 | |||||||
| chr19:1049623 | C | G | 2 | a0002c0003t0001g0009a0002c0009t0001g0008 | 2 | NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2552+186C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049623 | |||||||
| chr19:1049637 | C | T | 5 | a0003c0004t0001g0021a0003c0004t0001g0023a0004c0005t0002g0003others(2): Show | 5 | HG00673.hp1 HG02071.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+200C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049637 | |||||||
| chr19:1049638 | G | A | 1 | a0001c0001t0003g0019 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2552+201G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049638 | |||||||
| chr19:1049641 | AG | A | 2 | a0001c0001t0003g0019a0013c0012t0001g0026 | 2 | HG03688.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2552+205delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049641 | |||||||
| chr19:1049642 | G | A | 2 | a0004c0005t0002g0003a0012c0018t0001g0028 | 2 | HG02145.hp2 HG03688.hp1 |
intron_variant | MODIFIER | c.2552+205G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049642 | |||||||
| chr19:1049643 | C | A | 2 | a0001c0001t0003g0019a0013c0012t0001g0026 | 2 | HG03688.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2552+206C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049643 | |||||||
| chr19:1049643 | C | CCCCCCAC others(275): Show |
1 | a0012c0018t0001g0028 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2552+211_2552+212i others(284): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049643 | ||||||
| chr19:1049643 | C | CCCCCCCA others(45): Show |
2 | a0009c0010t0001g0013a0010c0008t0002g0014 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.2552+230_2552+231i others(54): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049643 | ||||||
| chr19:1049643 | C | G | 2 | a0001c0001t0003g0017a0001c0002t0002g0011 | 2 | HG02071.hp2 NA18970.hp2 |
intron_variant | MODIFIER | c.2552+206C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049643 | |||||||
| chr19:1049663 | C | T | 2 | a0001c0001t0003g0017a0015c0016t0001g0024 | 2 | HG02071.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.2552+226C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049663 | |||||||
| chr19:1049664 | G | A | 1 | a0001c0001t0003g0016 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2552+227G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049664 | |||||||
| chr19:1049667 | A | AG | 5 | a0001c0001t0003g0019a0002c0003t0001g0009a0016c0006t0002g0006others(2): Show | 5 | NA18983.hp2 NA19066.hp1 NA19066.hp2 others(2): Show |
intron_variant | MODIFIER | c.2552+230_2552+231i others(3): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049667 | |||||||
| chr19:1049667 | A | AGCCCCCC others(202): Show |
1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+230_2552+231i others(211): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049667 | |||||||
| chr19:1049668 | A | ACCCCCCA others(1159): Show |
1 | a0006c0019t0002g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2552+255_2552+256i others(1168): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049668 | ||||||
| chr19:1049668 | A | C | 5 | a0002c0003t0001g0009a0015c0016t0001g0024a0016c0006t0002g0006others(2): Show | 5 | NA18983.hp1 NA18983.hp2 NA19066.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+231A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049668 | |||||||
| chr19:1049668 | A | G | 6 | a0001c0001t0003g0019a0002c0009t0001g0008a0004c0005t0002g0002others(3): Show | 6 | HG02451.hp1 HG02970.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.2552+231A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049668 | |||||||
| chr19:1049669 | C | G | 1 | a0013c0012t0001g0026 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2552+232C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049669 | |||||||
| chr19:1049669 | C | T | 2 | a0004c0005t0002g0002a0007c0021t0001g0001 | 2 | HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2552+232C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049669 | |||||||
| chr19:1049688 | C | T | 5 | a0003c0004t0001g0021a0003c0004t0001g0023a0004c0005t0002g0002others(2): Show | 5 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+251C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049688 | |||||||
| chr19:1049694 | C | A | 1 | a0013c0012t0001g0026 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2552+257C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049694 | |||||||
| chr19:1049694 | C | CCCCCCCA others(591): Show |
1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2552+289_2552+290i others(600): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049694 | ||||||
| chr19:1049694 | C | G | 3 | a0001c0001t0003g0016a0001c0001t0003g0019a0005c0017t0001g0027 | 3 | HG00673.hp2 HG01071.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2552+257C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049694 | |||||||
| chr19:1049700 | C | CGG | 2 | a0004c0005t0002g0002a0007c0021t0001g0001 | 2 | HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2552+263_2552+264i others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049700 | |||||||
| chr19:1049700 | C | G | 3 | a0001c0001t0003g0017a0002c0003t0001g0009a0002c0009t0001g0008 | 3 | HG02071.hp2 NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2552+263C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049700 | |||||||
| chr19:1049704 | A | G | 2 | a0002c0003t0001g0009a0002c0009t0001g0008 | 2 | NA20805.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.2552+267A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049704 | |||||||
| chr19:1049714 | C | T | 3 | a0004c0005t0002g0002a0007c0021t0001g0001a0015c0016t0001g0024 | 3 | HG02451.hp1 HG02970.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.2552+277C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049714 | |||||||
| chr19:1049718 | AG | A | 3 | a0007c0021t0001g0001a0011c0020t0002g0020a0013c0012t0001g0026 | 3 | HG02451.hp1 HG02970.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.2552+283delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049718 | ||||||
| chr19:1049719 | G | GCCCCCCC others(95): Show |
1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2552+282_2552+283i others(104): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049719 | |||||||
| chr19:1049719 | G | GCCCCCCG others(253): Show |
1 | a0001c0001t0003g0016 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2552+282_2552+283i others(262): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049719 | |||||||
| chr19:1049720 | G | A | 3 | a0008c0022t0001g0004a0011c0020t0002g0020a0013c0012t0001g0026 | 3 | HG02451.hp2 HG02970.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.2552+283G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049720 | |||||||
| chr19:1049720 | G | C | 6 | a0001c0001t0003g0016a0004c0005t0002g0002a0015c0016t0001g0024others(3): Show | 6 | HG00673.hp2 HG02970.hp1 NA18983.hp1 others(3): Show |
intron_variant | MODIFIER | c.2552+283G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049720 | |||||||
| chr19:1049726 | C | A | 1 | a0002c0003t0001g0007 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2552+289C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049726 | |||||||
| chr19:1049726 | C | G | 2 | a0004c0005t0002g0002a0007c0021t0001g0001 | 2 | HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2552+289C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049726 | |||||||
| chr19:1049740 | C | T | 8 | a0001c0001t0003g0017a0002c0003t0001g0009a0002c0009t0001g0008others(5): Show | 8 | HG02071.hp2 HG02451.hp1 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.2552+303C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049740 | |||||||
| chr19:1049744 | A | AG | 5 | a0006c0019t0002g0029a0013c0012t0001g0026a0016c0006t0002g0006others(2): Show | 5 | HG02071.hp1 HG03688.hp2 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.2552+307_2552+308i others(3): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049744 | |||||||
| chr19:1049745 | A | ACCCACCA others(1864): Show |
1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2552+311_2552+312i others(1873): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049745 | ||||||
| chr19:1049745 | A | C | 5 | a0006c0019t0002g0029a0013c0012t0001g0026a0016c0006t0002g0006others(2): Show | 5 | HG02071.hp1 HG03688.hp2 NA18983.hp2 others(2): Show |
intron_variant | MODIFIER | c.2552+308A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049745 | |||||||
| chr19:1049745 | A | G | 8 | a0001c0001t0003g0016a0001c0001t0003g0017a0002c0003t0001g0007others(5): Show | 8 | HG00673.hp2 HG01071.hp2 HG02071.hp2 others(5): Show |
intron_variant | MODIFIER | c.2552+308A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049745 | |||||||
| chr19:1049751 | C | CGG | 2 | a0004c0005t0002g0002a0007c0021t0001g0001 | 2 | HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2552+314_2552+315i others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049751 | |||||||
| chr19:1049765 | C | T | 5 | a0003c0004t0001g0023a0004c0005t0002g0002a0005c0017t0001g0027others(2): Show | 5 | HG00673.hp1 HG01071.hp2 HG02451.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+328C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049765 | |||||||
| chr19:1049769 | AG | A | 3 | a0001c0001t0003g0019a0004c0005t0002g0003a0013c0012t0001g0026 | 3 | HG02145.hp2 HG03688.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2552+333delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049769 | |||||||
| chr19:1049770 | G | A | 1 | a0005c0017t0001g0027 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2552+333G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049770 | |||||||
| chr19:1049770 | G | GCCCCCCG others(47): Show |
1 | a0004c0005t0002g0002 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2552+339_2552+340i others(56): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049770 | ||||||
| chr19:1049771 | C | A | 3 | a0001c0001t0003g0019a0004c0005t0002g0003a0013c0012t0001g0026 | 3 | HG02145.hp2 HG03688.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2552+334C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049771 | |||||||
| chr19:1049771 | C | G | 4 | a0001c0001t0003g0017a0002c0003t0001g0009a0002c0009t0001g0008others(1): Show | 4 | HG02071.hp2 HG02451.hp2 NA20805.hp1 others(1): Show |
intron_variant | MODIFIER | c.2552+334C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049771 | |||||||
| chr19:1049772 | C | G | 1 | a0002c0003t0001g0007 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2552+335C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049772 | |||||||
| chr19:1049777 | C | G | 2 | a0004c0005t0002g0002a0007c0021t0001g0001 | 2 | HG02451.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.2552+340C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049777 | |||||||
| chr19:1049791 | C | T | 7 | a0001c0001t0003g0017a0002c0003t0001g0009a0002c0009t0001g0008others(4): Show | 7 | HG00673.hp1 HG02071.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.2552+354C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049791 | |||||||
| chr19:1049792 | G | A | 1 | a0001c0001t0003g0019 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2552+355G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049792 | |||||||
| chr19:1049795 | A | AG | 2 | a0006c0019t0002g0029a0016c0006t0002g0006 | 2 | HG02071.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.2552+358_2552+359i others(3): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049795 | |||||||
| chr19:1049795 | A | AGGCCCCC others(126): Show |
1 | a0012c0018t0001g0028 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2552+358_2552+359i others(135): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049795 | |||||||
| chr19:1049796 | A | C | 1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2552+359A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049796 | |||||||
| chr19:1049796 | A | G | 9 | a0001c0001t0003g0016a0003c0004t0001g0021a0004c0005t0002g0002others(6): Show | 9 | HG00673.hp2 HG02071.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.2552+359A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049796 | |||||||
| chr19:1049799 | C | T | 1 | a0007c0021t0001g0001 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2552+362C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049799 | |||||||
| chr19:1049813 | C | A | 1 | a0007c0021t0001g0001 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2552+376C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049813 | |||||||
| chr19:1049816 | C | T | 7 | a0003c0004t0001g0021a0004c0005t0002g0002a0006c0019t0002g0029others(4): Show | 7 | HG02071.hp1 HG02145.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.2552+379C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049816 | |||||||
| chr19:1049821 | G | A | 1 | a0007c0021t0001g0001 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2552+384G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049821 | |||||||
| chr19:1049822 | C | A | 1 | a0002c0003t0001g0007 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2552+385C>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049822 | |||||||
| chr19:1049822 | C | CCCCCCCA others(18): Show |
1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2552+404_2552+405i others(27): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049822 | ||||||
| chr19:1049822 | C | CCCCCCGA others(98): Show |
1 | a0017c0014t0002g0025 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2552+390_2552+391i others(107): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049822 | ||||||
| chr19:1049822 | C | G | 2 | a0001c0001t0003g0017a0005c0017t0001g0027 | 2 | HG01071.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.2552+385C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049822 | |||||||
| chr19:1049822 | C | T | 1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+385C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049822 | |||||||
| chr19:1049823 | C | CCCCCACC others(1845): Show |
1 | a0001c0001t0003g0015 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.2552+390_2552+391i others(1854): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049823 | ||||||
| chr19:1049823 | C | T | 1 | a0004c0005t0002g0002 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2552+386C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049823 | |||||||
| chr19:1049828 | C | CACCACTC others(276): Show |
1 | a0014c0015t0001g0022 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2552+404_2552+405i others(285): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049828 | ||||||
| chr19:1049828 | C | CACCACTC others(1082): Show |
1 | a0003c0004t0001g0021 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2552+404_2552+405i others(1091): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049828 | ||||||
| chr19:1049828 | C | G | 3 | a0007c0021t0001g0001a0015c0016t0001g0024a0018c0007t0002g0005 | 3 | HG02451.hp1 NA18983.hp1 NA19079.hp2 |
intron_variant | MODIFIER | c.2552+391C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049828 | |||||||
| chr19:1049838 | T | TC | 2 | a0001c0001t0003g0016a0003c0004t0001g0023 | 2 | HG00673.hp1 HG00673.hp2 |
intron_variant | MODIFIER | c.2552+404dupC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049838 | ||||||
| chr19:1049842 | T | C | 14 | a0001c0001t0003g0016a0001c0001t0003g0018a0001c0001t0003g0019others(11): Show | 14 | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.2552+405T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049842 | |||||||
| chr19:1049847 | G | A | 2 | a0001c0001t0003g0017a0013c0012t0001g0026 | 2 | HG02071.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.2552+410G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049847 | |||||||
| chr19:1049848 | C | CCCCCCCA others(1460): Show |
1 | a0005c0017t0001g0027 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2552+416_2552+417i others(1469): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049848 | ||||||
| chr19:1049848 | C | T | 1 | a0004c0005t0002g0002 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.2552+411C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049848 | |||||||
| chr19:1049853 | CG | C | 5 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(2): Show | 5 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(2): Show |
intron_variant | MODIFIER | c.2552+417delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049853 | |||||||
| chr19:1049854 | G | C | 4 | a0004c0005t0002g0003a0005c0017t0001g0027a0008c0022t0001g0004others(1): Show | 4 | HG01071.hp2 HG02145.hp2 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.2552+417G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049854 | |||||||
| chr19:1049858 | G | A | 10 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(7): Show | 10 | HG00673.hp2 HG01071.hp2 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2552+421G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049858 | |||||||
| chr19:1049868 | C | T | 5 | a0001c0001t0003g0015a0004c0005t0002g0002a0007c0021t0001g0001others(2): Show | 5 | HG01071.hp1 HG02451.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+431C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049868 | |||||||
| chr19:1049873 | G | GGCCCCCC others(2026): Show |
1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2552+436_2552+437i others(2035): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049873 | |||||||
| chr19:1049873 | G | GTCCCCCG others(104): Show |
1 | a0004c0005t0002g0003 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2552+436_2552+437i others(113): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049873 | |||||||
| chr19:1049874 | C | G | 5 | a0001c0001t0003g0017a0001c0001t0003g0018a0006c0019t0002g0029others(2): Show | 5 | HG02071.hp1 HG02071.hp2 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.2552+437C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049874 | |||||||
| chr19:1049874 | C | T | 9 | a0002c0003t0001g0009a0002c0009t0001g0008a0003c0004t0001g0021others(6): Show | 9 | HG00673.hp1 HG02145.hp1 HG02970.hp2 others(6): Show |
intron_variant | MODIFIER | c.2552+437C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049874 | |||||||
| chr19:1049875 | C | CCCCCCGG others(725): Show |
1 | a0001c0001t0003g0019 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2552+443_2552+444i others(734): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049875 | ||||||
| chr19:1049875 | C | T | 2 | a0001c0001t0003g0015a0007c0021t0001g0001 | 2 | HG01071.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.2552+438C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049875 | |||||||
| chr19:1049880 | C | CGACCACT others(22): Show |
1 | a0003c0004t0001g0021 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2552+443_2552+444i others(31): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049880 | |||||||
| chr19:1049880 | C | G | 10 | a0001c0001t0003g0016a0002c0003t0001g0007a0002c0003t0001g0009others(7): Show | 10 | HG00673.hp1 HG00673.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2552+443C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049880 | |||||||
| chr19:1049894 | T | C | 7 | a0001c0001t0003g0016a0001c0001t0003g0018a0002c0003t0001g0009others(4): Show | 7 | HG00673.hp2 HG01071.hp2 HG02071.hp1 others(4): Show |
intron_variant | MODIFIER | c.2552+457T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049894 | |||||||
| chr19:1049895 | G | T | 2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2552+458G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049895 | |||||||
| chr19:1049898 | A | AGCCCCCC others(1878): Show |
1 | a0001c0001t0003g0018 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2552+468_2552+469i others(1887): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049898 | ||||||
| chr19:1049899 | G | A | 1 | a0018c0007t0002g0005 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2552+462G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049899 | |||||||
| chr19:1049900 | C | CCCCCCCA others(408): Show |
1 | a0018c0007t0002g0005 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.2552+482_2552+483i others(417): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049900 | ||||||
| chr19:1049900 | C | CCCCCCCA others(144): Show |
1 | a0009c0010t0001g0013 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2552+494_2552+495i others(153): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049900 | ||||||
| chr19:1049900 | C | G | 1 | a0001c0001t0003g0016 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2552+463C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049900 | |||||||
| chr19:1049900 | C | T | 4 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(1): Show | 4 | HG02451.hp1 NA20805.hp1 NA20805.hp2 others(1): Show |
intron_variant | MODIFIER | c.2552+463C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049900 | |||||||
| chr19:1049901 | C | CCCCCACC others(41): Show |
1 | a0007c0021t0001g0001 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2552+468_2552+469i others(50): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049901 | ||||||
| chr19:1049901 | C | T | 2 | a0002c0003t0001g0007a0004c0005t0002g0002 | 2 | HG02970.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2552+464C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049901 | |||||||
| chr19:1049905 | C | CGACCGCT others(2410): Show |
1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.2552+468_2552+469i others(2419): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049905 | |||||||
| chr19:1049906 | C | CACCACTC others(205): Show |
1 | a0014c0015t0001g0022 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.2552+488_2552+489i others(214): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049906 | ||||||
| chr19:1049906 | C | CGG | 4 | a0008c0022t0001g0004a0013c0012t0001g0026a0015c0016t0001g0024others(1): Show | 4 | HG02451.hp2 HG03688.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.2552+469_2552+470i others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049906 | |||||||
| chr19:1049906 | C | CGGACCAC others(99): Show |
1 | a0016c0006t0002g0006 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.2552+469_2552+470i others(108): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049906 | |||||||
| chr19:1049906 | C | G | 5 | a0002c0003t0001g0009a0002c0009t0001g0008a0003c0004t0001g0021others(2): Show | 5 | HG00673.hp1 HG01071.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+469C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049906 | |||||||
| chr19:1049910 | A | ACTCCCTC others(527): Show |
1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2552+482_2552+483i others(536): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049910 | ||||||
| chr19:1049910 | A | G | 2 | a0002c0003t0001g0007a0005c0017t0001g0027 | 2 | HG01071.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.2552+473A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049910 | |||||||
| chr19:1049920 | T | C | 9 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(6): Show | 9 | HG00673.hp2 HG01071.hp1 HG02071.hp1 others(6): Show |
intron_variant | MODIFIER | c.2552+483T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049920 | |||||||
| chr19:1049925 | G | GCCCCCGA others(71): Show |
1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2552+488_2552+489i others(80): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049925 | |||||||
| chr19:1049925 | G | GCCCCCGA others(69): Show |
1 | a0002c0003t0001g0009 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2552+488_2552+489i others(78): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049925 | |||||||
| chr19:1049925 | GT | G | 6 | a0002c0003t0001g0007a0004c0005t0002g0002a0004c0005t0002g0003others(3): Show | 6 | HG02145.hp2 HG02451.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.2552+490delT | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049925 | ||||||
| chr19:1049926 | T | C | 5 | a0001c0001t0003g0015a0001c0001t0003g0018a0003c0004t0001g0021others(2): Show | 5 | HG01071.hp1 HG02071.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+489T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049926 | |||||||
| chr19:1049926 | T | G | 7 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0019others(4): Show | 7 | HG00673.hp2 HG02071.hp2 HG03688.hp1 others(4): Show |
intron_variant | MODIFIER | c.2552+489T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049926 | |||||||
| chr19:1049926 | T | TTCCCCAC others(193): Show |
1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2552+494_2552+495i others(202): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049926 | ||||||
| chr19:1049927 | T | C | 13 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(10): Show | 13 | HG00673.hp2 HG01071.hp1 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.2552+490T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049927 | |||||||
| chr19:1049931 | C | G | 1 | a0005c0017t0001g0027 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2552+494C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049931 | |||||||
| chr19:1049932 | C | CACCACTC others(2946): Show |
1 | a0012c0018t0001g0028 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2552+508_2552+509i others(2955): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049932 | ||||||
| chr19:1049932 | C | CACCGCTC others(2255): Show |
1 | a0006c0019t0002g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.2552+498_2552+499i others(2264): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049932 | ||||||
| chr19:1049932 | C | G | 3 | a0001c0001t0003g0015a0001c0001t0003g0018a0005c0017t0001g0027 | 3 | HG01071.hp1 HG01071.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.2552+495C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049932 | |||||||
| chr19:1049936 | A | G | 5 | a0003c0004t0001g0023a0008c0022t0001g0004a0014c0015t0001g0022others(2): Show | 5 | HG00673.hp1 HG02451.hp2 NA18970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+499A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049936 | |||||||
| chr19:1049946 | T | C | 6 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0018others(3): Show | 6 | HG00673.hp2 HG01071.hp1 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.2552+509T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049946 | |||||||
| chr19:1049946 | T | TGTGAACC others(4627): Show |
1 | a0013c0012t0001g0026 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2552+513_2552+514i others(4636): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049946 | ||||||
| chr19:1049950 | A | AG | 2 | a0001c0001t0003g0016a0001c0001t0003g0018 | 2 | HG00673.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.2552+514dupG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049950 | ||||||
| chr19:1049950 | A | AGCCCCCC others(608): Show |
1 | a0001c0001t0003g0017 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.2552+514_2552+515i others(617): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049950 | ||||||
| chr19:1049952 | T | C | 10 | a0001c0001t0003g0016a0001c0001t0003g0017a0001c0001t0003g0018others(7): Show | 10 | HG00673.hp2 HG02071.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.2552+515T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049952 | |||||||
| chr19:1049952 | T | G | 5 | a0001c0001t0003g0015a0005c0017t0001g0027a0006c0019t0002g0029others(2): Show | 5 | HG01071.hp1 HG01071.hp2 HG02071.hp1 others(2): Show |
intron_variant | MODIFIER | c.2552+515T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049952 | |||||||
| chr19:1049952 | T | TCCCCCAC others(798): Show |
1 | a0017c0014t0002g0025 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2552+541_2552+542i others(807): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049952 | ||||||
| chr19:1049954 | C | G | 3 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008 | 3 | NA20805.hp1 NA20805.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.2552+517C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049954 | |||||||
| chr19:1049957 | C | CAA | 3 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008 | 3 | NA20805.hp1 NA20805.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.2552+521_2552+522i others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049957 | ||||||
| chr19:1049957 | C | CACCACTC others(45): Show |
1 | a0001c0001t0003g0019 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2552+539_2552+540i others(54): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1049957 | ||||||
| chr19:1049971 | T | C | 1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+534T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049971 | |||||||
| chr19:1049977 | C | G | 1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+540C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049977 | |||||||
| chr19:1049979 | G | C | 1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+542G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049979 | |||||||
| chr19:1049983 | A | C | 1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+546A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049983 | |||||||
| chr19:1049984 | A | ACCACTCC others(989): Show |
1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2552+547_2552+548i others(998): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1049984 | |||||||
| chr19:1050131 | G | C | 18 | a0001c0001t0003g0017a0002c0003t0001g0007a0002c0003t0001g0009others(15): Show | 18 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(15): Show |
intron_variant | MODIFIER | c.2552+694G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1050131 | |||||||
| chr19:1050413 | A | AAAAAATA others(336): Show |
1 | a0017c0014t0002g0025 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2553-494_2553-493i others(345): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050413 | ||||||
| chr19:1050413 | A | AAAAAATA others(335): Show |
2 | a0016c0006t0002g0006a0018c0007t0002g0005 | 2 | NA18983.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2553-494_2553-493i others(344): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050413 | ||||||
| chr19:1050596 | A | G | 7 | a0004c0005t0002g0002a0005c0017t0001g0027a0006c0019t0002g0029others(4): Show | 7 | HG01071.hp2 HG02071.hp1 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.2553-325A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1050596 | |||||||
| chr19:1050782 | A | AAAT | 4 | a0001c0001t0003g0016a0001c0002t0002g0011a0003c0004t0001g0021others(1): Show | 4 | HG00673.hp2 HG02145.hp1 NA18970.hp1 others(1): Show |
intron_variant | MODIFIER | c.2553-103_2553-101d others(5): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050782 | ||||||
| chr19:1050782 | A | AAATAAT | 5 | a0001c0001t0003g0015a0001c0001t0003g0017a0002c0003t0001g0009others(2): Show | 5 | HG01071.hp1 HG02071.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.2553-106_2553-101d others(8): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050782 | ||||||
| chr19:1050782 | A | AAATAATA others(2): Show |
6 | a0001c0001t0003g0018a0002c0009t0001g0008a0003c0004t0001g0023others(3): Show | 6 | HG00673.hp1 NA18983.hp1 NA19066.hp1 others(3): Show |
intron_variant | MODIFIER | c.2553-109_2553-101d others(11): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050782 | ||||||
| chr19:1050782 | A | AAATAATA others(5): Show |
1 | a0002c0003t0001g0007 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2553-112_2553-101d others(14): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050782 | ||||||
| chr19:1050782 | AAATAATA others(8): Show |
A | 9 | a0004c0005t0002g0002a0004c0005t0002g0003a0005c0017t0001g0027others(6): Show | 9 | HG01071.hp2 HG02071.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.2553-115_2553-101d others(17): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | 1050782 | ||||||
| chr19:1050836 | T | A | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2553-85T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1050836 | |||||||
| chr19:1050837 | T | A | 8 | a0004c0005t0002g0002a0004c0005t0002g0003a0005c0017t0001g0027others(5): Show | 8 | HG01071.hp2 HG02145.hp2 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.2553-84T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1050837 | |||||||
| chr19:1050875 | A | G | 18 | a0001c0001t0003g0016a0002c0003t0001g0007a0002c0003t0001g0009others(15): Show | 18 | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(15): Show |
intron_variant | MODIFIER | c.2553-46A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | 1050875 | |||||||
| chr19:1051371 | TACTGAGG others(42): Show |
T | 9 | a0004c0005t0002g0002a0004c0005t0002g0003a0005c0017t0001g0027others(6): Show | 9 | HG01071.hp2 HG02071.hp1 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.2825-67_2825-19del others(49): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 20/46 | INFO_REALIGN_3_PRIME | chr19 | 1051371 | ||||||
| chr19:1051752 | A | G | 13 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(10): Show | 13 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.2962+166A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 21/46 | chr19 | 1051752 | |||||||
| chr19:1051934 | G | A | 2 | a0009c0010t0001g0013a0010c0008t0002g0014 | 2 | HG02723.hp1 HG02723.hp2 |
splice_region_variant&intron_variant | LOW | c.2963-8G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 21/46 | chr19 | 1051934 | |||||||
| chr19:1052196 | G | A | 2 | a0009c0010t0001g0013a0010c0008t0002g0014 | 2 | HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.3148-18G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 22/46 | chr19 | 1052196 | |||||||
| chr19:1052405 | T | A | 10 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(7): Show | 10 | HG00673.hp1 HG02145.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.3220+119T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052405 | |||||||
| chr19:1052521 | A | AG | 4 | a0001c0002t0002g0011a0002c0003t0001g0009a0004c0005t0002g0003others(1): Show | 4 | HG02071.hp1 HG02145.hp2 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.3220+241dupG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | INFO_REALIGN_3_PRIME | chr19 | 1052521 | ||||||
| chr19:1052620 | G | GGAGGGAG others(379): Show |
1 | a0006c0019t0002g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.3220+334_3220+335i others(388): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052620 | |||||||
| chr19:1052620 | G | GGAGGGAG others(367): Show |
1 | a0002c0003t0001g0009 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3220+334_3220+335i others(376): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052620 | |||||||
| chr19:1052625 | A | AGAGGAGG others(347): Show |
1 | a0003c0004t0001g0023 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(356): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(345): Show |
1 | a0015c0016t0001g0024 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(354): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(347): Show |
2 | a0003c0004t0001g0021a0014c0015t0001g0022 | 2 | HG02145.hp1 NA18970.hp1 |
intron_variant | MODIFIER | c.3220+339_3220+340i others(356): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(442): Show |
1 | a0005c0017t0001g0027 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(451): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(377): Show |
1 | a0012c0018t0001g0028 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(386): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(469): Show |
1 | a0009c0010t0001g0013 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(478): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(472): Show |
1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(481): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(375): Show |
1 | a0001c0001t0003g0018 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(384): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(376): Show |
3 | a0001c0001t0003g0015a0001c0001t0003g0017a0001c0001t0003g0019 | 3 | HG01071.hp1 HG02071.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.3220+339_3220+340i others(385): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(376): Show |
1 | a0013c0012t0001g0026 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(385): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(376): Show |
1 | a0001c0001t0003g0016 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(385): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(365): Show |
1 | a0002c0003t0001g0007 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(374): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(348): Show |
1 | a0001c0002t0002g0011 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(357): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(375): Show |
1 | a0007c0021t0001g0001 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(384): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(376): Show |
3 | a0004c0005t0002g0002a0008c0022t0001g0004a0011c0020t0002g0020 | 3 | HG02451.hp2 HG02970.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.3220+339_3220+340i others(385): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(380): Show |
1 | a0004c0005t0002g0003 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(389): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(366): Show |
1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.3220+339_3220+340i others(375): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | AGAGGAGG others(371): Show |
1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3220+339_3220+340i others(380): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052625 | A | G | 2 | a0002c0003t0001g0009a0006c0019t0002g0029 | 2 | HG02071.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.3220+339A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052625 | |||||||
| chr19:1052626 | A | G | 27 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(24): Show | 27 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.3220+340A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052626 | |||||||
| chr19:1052627 | A | G | 1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.3220+341A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052627 | |||||||
| chr19:1052657 | A | G | 27 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(24): Show | 27 | HG00673.hp1 HG00673.hp2 HG01071.hp1 others(24): Show |
intron_variant | MODIFIER | c.3220+371A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052657 | |||||||
| chr19:1052690 | A | AG | 2 | a0004c0005t0002g0003a0006c0019t0002g0029 | 2 | HG02071.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.3220+407dupG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | INFO_REALIGN_3_PRIME | chr19 | 1052690 | ||||||
| chr19:1052720 | A | G | 1 | a0001c0002t0002g0011 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3220+434A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052720 | |||||||
| chr19:1052721 | G | A | 1 | a0001c0002t0002g0011 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3220+435G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052721 | |||||||
| chr19:1052787 | G | A | 1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3220+501G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052787 | |||||||
| chr19:1052826 | A | C | 1 | a0001c0002t0002g0011 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3221-503A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052826 | |||||||
| chr19:1052860 | C | T | 3 | a0009c0010t0001g0013a0010c0008t0002g0014a0011c0020t0002g0020 | 3 | HG02723.hp1 HG02723.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.3221-469C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052860 | |||||||
| chr19:1052885 | C | T | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.3221-444C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1052885 | |||||||
| chr19:1053142 | C | G | 1 | a0008c0022t0001g0004 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.3221-187C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1053142 | |||||||
| chr19:1053170 | G | T | 1 | a0004c0005t0002g0003 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3221-159G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1053170 | |||||||
| chr19:1053300 | C | T | 9 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(6): Show | 9 | HG00673.hp1 HG02145.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.3221-29C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | 1053300 | |||||||
| chr19:1053576 | T | G | 2 | a0002c0003t0001g0007a0002c0003t0001g0009 | 2 | NA20805.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.3423+45T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 24/46 | chr19 | 1053576 | |||||||
| chr19:1053588 | TG | T | 2 | a0002c0003t0001g0009a0004c0005t0002g0003 | 2 | HG02145.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.3423+59delG | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 24/46 | INFO_REALIGN_3_PRIME | chr19 | 1053588 | ||||||
| chr19:1053678 | G | A | 8 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(5): Show | 8 | HG00673.hp1 HG02145.hp1 NA18970.hp1 others(5): Show |
intron_variant | MODIFIER | c.3424-110G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 24/46 | chr19 | 1053678 | |||||||
| chr19:1053840 | C | T | 2 | a0008c0022t0001g0004a0009c0010t0001g0013 | 2 | HG02451.hp2 HG02723.hp1 |
splice_region_variant&intron_variant | LOW | c.3472+4C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 25/46 | chr19 | 1053840 | |||||||
| chr19:1053934 | A | C | 1 | a0006c0019t0002g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.3473-72A>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 25/46 | chr19 | 1053934 | |||||||
| chr19:1054400 | G | A | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.3726+59G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 27/46 | chr19 | 1054400 | |||||||
| chr19:1055499 | C | CT | 8 | a0001c0001t0003g0017a0004c0005t0002g0002a0004c0005t0002g0003others(5): Show | 8 | HG01071.hp2 HG02071.hp1 HG02071.hp2 others(5): Show |
intron_variant | MODIFIER | c.4205+169dupT | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr19 | 1055499 | ||||||
| chr19:1055499 | C | CTT | 3 | a0008c0022t0001g0004a0009c0010t0001g0013a0010c0008t0002g0014 | 3 | HG02451.hp2 HG02723.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.4205+168_4205+169d others(4): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr19 | 1055499 | ||||||
| chr19:1055499 | CT | C | 8 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(5): Show | 8 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(5): Show |
intron_variant | MODIFIER | c.4205+169delT | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr19 | 1055499 | ||||||
| chr19:1055561 | G | A | 1 | a0006c0019t0002g0029 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.4205+210G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | chr19 | 1055561 | |||||||
| chr19:1055605 | C | T | 9 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(6): Show | 9 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.4205+254C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | chr19 | 1055605 | |||||||
| chr19:1055643 | C | T | 2 | a0008c0022t0001g0004a0009c0010t0001g0013 | 2 | HG02451.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.4206-264C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | chr19 | 1055643 | |||||||
| chr19:1055719 | C | T | 2 | a0002c0003t0001g0007a0002c0003t0001g0009 | 2 | NA20805.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.4206-188C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | chr19 | 1055719 | |||||||
| chr19:1055791 | C | T | 1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4206-116C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | chr19 | 1055791 | |||||||
| chr19:1055793 | C | T | 2 | a0010c0008t0002g0014a0011c0020t0002g0020 | 2 | HG02723.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.4206-114C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 30/46 | chr19 | 1055793 | |||||||
| chr19:1056019 | GC | G | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0003c0004t0001g0021others(11): Show | 14 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.4239-40delC | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 31/46 | INFO_REALIGN_3_PRIME | chr19 | 1056019 | ||||||
| chr19:1056026 | C | G | 1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4239-40C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 31/46 | chr19 | 1056026 | |||||||
| chr19:1056028 | G | C | 1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4239-38G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 31/46 | chr19 | 1056028 | |||||||
| chr19:1056564 | T | G | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.4586+65T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 33/46 | chr19 | 1056564 | |||||||
| chr19:1056838 | G | A | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.4587-69G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 33/46 | chr19 | 1056838 | |||||||
| chr19:1057138 | G | A | 2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.4764+54G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 34/46 | chr19 | 1057138 | |||||||
| chr19:1057635 | C | G | 1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.4880+206C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 35/46 | chr19 | 1057635 | |||||||
| chr19:1057757 | G | C | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.4881-158G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 35/46 | chr19 | 1057757 | |||||||
| chr19:1057777 | GA | G | 3 | a0002c0003t0001g0007a0004c0005t0002g0002a0004c0005t0002g0003 | 3 | HG02145.hp2 HG02970.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.4881-125delA | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 35/46 | INFO_REALIGN_3_PRIME | chr19 | 1057777 | ||||||
| chr19:1057864 | A | T | 3 | a0010c0008t0002g0014a0011c0020t0002g0020a0019c0013t0002g0030 | 3 | HG02723.hp2 HG02970.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.4881-51A>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 35/46 | chr19 | 1057864 | |||||||
| chr19:1058127 | G | A | 1 | a0009c0010t0001g0013 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.5026-19G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 36/46 | chr19 | 1058127 | |||||||
| chr19:1059005 | A | G | 15 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(12): Show | 15 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.5401-18A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 39/46 | chr19 | 1059005 | |||||||
| chr19:1059248 | A | ATTAT | 5 | a0002c0009t0001g0008a0003c0004t0001g0021a0007c0021t0001g0001others(2): Show | 5 | HG02145.hp1 HG02451.hp1 NA18970.hp1 others(2): Show |
intron_variant | MODIFIER | c.5463+194_5463+197d others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1059248 | ||||||
| chr19:1059248 | A | ATTATTTA others(1): Show |
6 | a0005c0017t0001g0027a0006c0019t0002g0029a0009c0010t0001g0013others(3): Show | 6 | HG01071.hp2 HG02071.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.5463+190_5463+197d others(10): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1059248 | ||||||
| chr19:1059248 | A | ATTATTTA others(5): Show |
6 | a0002c0003t0001g0007a0004c0005t0002g0002a0004c0005t0002g0003others(3): Show | 6 | HG02145.hp2 HG02451.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.5463+186_5463+197d others(14): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1059248 | ||||||
| chr19:1059248 | A | ATTATTTA others(9): Show |
1 | a0002c0003t0001g0009 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.5463+182_5463+197d others(18): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1059248 | ||||||
| chr19:1059476 | A | G | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.5463+391A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1059476 | |||||||
| chr19:1059556 | C | T | 10 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(7): Show | 10 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.5463+471C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1059556 | |||||||
| chr19:1059776 | A | G | 3 | a0010c0008t0002g0014a0011c0020t0002g0020a0019c0013t0002g0030 | 3 | HG02723.hp2 HG02970.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.5463+691A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1059776 | |||||||
| chr19:1060207 | A | ATATATAT others(25): Show |
1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.5463+1123_5463+112 others(36): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1060207 | ||||||
| chr19:1060207 | A | ATATATAT others(3): Show |
1 | a0004c0005t0002g0003 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.5463+1123_5463+112 others(14): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1060207 | ||||||
| chr19:1060207 | A | ATATATTT others(4): Show |
1 | a0004c0005t0002g0002 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.5463+1123_5463+112 others(15): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1060207 | ||||||
| chr19:1060208 | T | TA | 6 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(3): Show | 6 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.5463+1123_5463+112 others(5): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060208 | |||||||
| chr19:1060208 | T | TATA | 6 | a0002c0009t0001g0008a0003c0004t0001g0021a0003c0004t0001g0023others(3): Show | 6 | HG00673.hp1 HG02145.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.5463+1123_5463+112 others(7): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060208 | |||||||
| chr19:1060209 | T | A | 7 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0017others(4): Show | 7 | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(4): Show |
intron_variant | MODIFIER | c.5463+1124T>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060209 | |||||||
| chr19:1060217 | C | T | 3 | a0010c0008t0002g0014a0011c0020t0002g0020a0019c0013t0002g0030 | 3 | HG02723.hp2 HG02970.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.5463+1132C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060217 | |||||||
| chr19:1060399 | C | T | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.5463+1314C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060399 | |||||||
| chr19:1060488 | T | G | 17 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(14): Show | 17 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.5464-1294T>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060488 | |||||||
| chr19:1060522 | CT | C | 3 | a0010c0008t0002g0014a0011c0020t0002g0020a0019c0013t0002g0030 | 3 | HG02723.hp2 HG02970.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.5464-1245delT | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1060522 | ||||||
| chr19:1060638 | G | T | 4 | a0002c0003t0001g0007a0002c0003t0001g0009a0008c0022t0001g0004others(1): Show | 4 | HG02451.hp2 HG02723.hp1 NA20805.hp2 others(1): Show |
intron_variant | MODIFIER | c.5464-1144G>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060638 | |||||||
| chr19:1060669 | G | A | 6 | a0002c0009t0001g0008a0003c0004t0001g0021a0003c0004t0001g0023others(3): Show | 6 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.5464-1113G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060669 | |||||||
| chr19:1060670 | C | T | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.5464-1112C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060670 | |||||||
| chr19:1060889 | T | C | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0010c0008t0002g0014others(2): Show | 5 | HG02145.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.5464-893T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1060889 | |||||||
| chr19:1061063 | G | A | 2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.5464-719G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061063 | |||||||
| chr19:1061167 | C | T | 1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.5464-615C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061167 | |||||||
| chr19:1061168 | A | G | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0010c0008t0002g0014others(2): Show | 5 | HG02145.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.5464-614A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061168 | |||||||
| chr19:1061257 | C | T | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.5464-525C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061257 | |||||||
| chr19:1061381 | G | C | 6 | a0002c0009t0001g0008a0003c0004t0001g0021a0003c0004t0001g0023others(3): Show | 6 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(3): Show |
intron_variant | MODIFIER | c.5464-401G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061381 | |||||||
| chr19:1061390 | C | CAAAAAAA others(7): Show |
1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.5464-383_5464-370d others(16): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1061390 | ||||||
| chr19:1061479 | A | G | 4 | a0004c0005t0002g0002a0004c0005t0002g0003a0010c0008t0002g0014others(1): Show | 4 | HG02145.hp2 HG02723.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.5464-303A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061479 | |||||||
| chr19:1061532 | T | TA | 6 | a0005c0017t0001g0027a0006c0019t0002g0029a0010c0008t0002g0014others(3): Show | 6 | HG01071.hp2 HG02071.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.5464-241dupA | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1061532 | ||||||
| chr19:1061586 | C | G | 2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.5464-196C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | chr19 | 1061586 | |||||||
| chr19:1061699 | C | CA | 13 | a0002c0003t0001g0007a0002c0003t0001g0009a0003c0004t0001g0021others(10): Show | 13 | HG00673.hp1 HG02145.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.5464-67dupA | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr19 | 1061699 | ||||||
| chr19:1061911 | A | G | 4 | a0004c0005t0002g0002a0004c0005t0002g0003a0010c0008t0002g0014others(1): Show | 4 | HG02145.hp2 HG02723.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.5570+23A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 41/46 | chr19 | 1061911 | |||||||
| chr19:1061921 | A | G | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0010c0008t0002g0014others(2): Show | 5 | HG02145.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.5570+33A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 41/46 | chr19 | 1061921 | |||||||
| chr19:1062042 | C | G | 2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.5571-130C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 41/46 | chr19 | 1062042 | |||||||
| chr19:1062165 | T | C | 5 | a0004c0005t0002g0002a0004c0005t0002g0003a0011c0020t0002g0020others(2): Show | 5 | HG02145.hp2 HG02970.hp1 HG02970.hp2 others(2): Show |
splice_region_variant&intron_variant | LOW | c.5571-7T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 41/46 | chr19 | 1062165 | |||||||
| chr19:1062371 | T | C | 4 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(1): Show | 4 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.5712+58T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1062371 | |||||||
| chr19:1062429 | G | A | 1 | a0018c0007t0002g0005 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.5712+116G>A | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1062429 | |||||||
| chr19:1062599 | T | C | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5712+286T>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1062599 | |||||||
| chr19:1062702 | C | T | 10 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(7): Show | 10 | HG00673.hp1 HG02145.hp1 HG02451.hp1 others(7): Show |
intron_variant | MODIFIER | c.5712+389C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1062702 | |||||||
| chr19:1062865 | C | G | 3 | a0011c0020t0002g0020a0016c0006t0002g0006a0017c0014t0002g0025 | 3 | HG02970.hp2 NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.5712+552C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1062865 | |||||||
| chr19:1062875 | ACCCCATA others(32): Show |
A | 1 | a0002c0009t0001g0008 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.5713-552_5713-514d others(41): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr19 | 1062875 | ||||||
| chr19:1062917 | C | CCATACTC others(32): Show |
1 | a0011c0020t0002g0020 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.5713-589_5713-588i others(41): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr19 | 1062917 | ||||||
| chr19:1062956 | C | G | 17 | a0002c0003t0001g0007a0002c0003t0001g0009a0003c0004t0001g0021others(14): Show | 17 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.5713-588C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1062956 | |||||||
| chr19:1063006 | C | T | 15 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(12): Show | 15 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.5713-538C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063006 | |||||||
| chr19:1063009 | G | C | 16 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(13): Show | 16 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.5713-535G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063009 | |||||||
| chr19:1063009 | G | GCTCCACC others(32): Show |
2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.5713-514_5713-513i others(41): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr19 | 1063009 | ||||||
| chr19:1063009 | G | GCTCCACC others(32): Show |
3 | a0004c0005t0002g0002a0004c0005t0002g0003a0010c0008t0002g0014 | 3 | HG02145.hp2 HG02723.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.5713-514_5713-513i others(41): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr19 | 1063009 | ||||||
| chr19:1063031 | A | G | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.5713-513A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063031 | |||||||
| chr19:1063080 | C | G | 15 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(12): Show | 15 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.5713-464C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063080 | |||||||
| chr19:1063108 | C | T | 8 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(5): Show | 8 | HG02145.hp1 HG02451.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.5713-436C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063108 | |||||||
| chr19:1063162 | G | GCTCCACC others(221): Show |
1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.5713-241_5713-240i others(230): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | INFO_REALIGN_3_PRIME | chr19 | 1063162 | ||||||
| chr19:1063304 | C | T | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5713-240C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063304 | |||||||
| chr19:1063307 | C | T | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5713-237C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063307 | |||||||
| chr19:1063311 | C | G | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5713-233C>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063311 | |||||||
| chr19:1063313 | C | T | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5713-231C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063313 | |||||||
| chr19:1063314 | A | G | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5713-230A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063314 | |||||||
| chr19:1063364 | C | T | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.5713-180C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063364 | |||||||
| chr19:1063444 | A | G | 21 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(18): Show | 21 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(18): Show |
intron_variant | MODIFIER | c.5713-100A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 42/46 | chr19 | 1063444 | |||||||
| chr19:1063931 | C | T | 4 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(1): Show | 4 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.5951+68C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 44/46 | chr19 | 1063931 | |||||||
| chr19:1064412 | A | G | 2 | a0004c0005t0002g0002a0004c0005t0002g0003 | 2 | HG02145.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.6044+159A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064412 | |||||||
| chr19:1064454 | G | C | 4 | a0005c0017t0001g0027a0006c0019t0002g0029a0012c0018t0001g0028others(1): Show | 4 | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(1): Show |
intron_variant | MODIFIER | c.6044+201G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064454 | |||||||
| chr19:1064486 | C | T | 14 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(11): Show | 14 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.6044+233C>T | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064486 | |||||||
| chr19:1064566 | A | G | 2 | a0016c0006t0002g0006a0017c0014t0002g0025 | 2 | NA18983.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.6044+313A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064566 | |||||||
| chr19:1064590 | G | C | 15 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(12): Show | 15 | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.6044+337G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064590 | |||||||
| chr19:1064829 | A | G | 1 | a0010c0008t0002g0014 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.6045-102A>G | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064829 | |||||||
| chr19:1064900 | G | C | 1 | a0019c0013t0002g0030 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.6045-31G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 45/46 | chr19 | 1064900 | |||||||
| chr19:1065198 | G | C | 13 | a0002c0003t0001g0007a0002c0003t0001g0009a0002c0009t0001g0008others(10): Show | 13 | HG00673.hp1 HG01071.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.6285+27G>C | ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 46/46 | chr19 | 1065198 |