Item | Value |
---|---|
geneid | 80184 |
ensemblid | ENSG00000198707.17 |
hgncid | 29021 |
symbol | CEP290 |
name | centrosomal protein 290 |
refseq_nuc | NM_025114.4 |
refseq_prot | NP_079390.3 |
ensembl_nuc | ENST00000552810.6 |
ensembl_prot | ENSP00000448012.1 |
mane_status | MANE Select |
chr | chr12 |
start | 88049016 |
end | 88142088 |
strand | - |
ver | v1.2 |
region | chr12:88049016-88142088 |
region5000 | chr12:88044016-88147088 |
regionname0 | CEP290_chr12_88049016_88142088 |
regionname5000 | CEP290_chr12_88044016_88147088 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 2479 | 134 | 48 | 26 | 34 | 4 | 20 | 24 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0002 | 0/0 | 2479 | 31 | 0 | 6 | 24 | 0 | 1 | 22 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0003 | 0/0 | 2479 | 16 | 16 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0004 | 0/0 | 2479 | 13 | 10 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0005 | 0/0 | 2479 | 12 | 2 | 2 | 8 | 0 | 0 | 6 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0006 | 0/0 | 2479 | 10 | 1 | 2 | 2 | 0 | 5 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0007 | 0/0 | 2479 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0008 | 0/0 | 2479 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0009 | 0/0 | 2479 | 3 | 0 | 0 | 1 | 0 | 2 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0010 | 0/0 | 2479 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0011 | 0/0 | 2479 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0012 | 0/0 | 2479 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0013 | 0/0 | 2479 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0014 | 0/0 | 2479 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0015 | 0/0 | 2479 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0016 | 0/0 | 2479 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(2474): Show |
chr12 | 88044016 | 88147088 |
a0017 | 0/0 | 1925 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | MPPNI others(1920): Show |
chr12 | 88044016 | 88147088 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 7437 | 106 | 26 | 23 | 34 | 4 | 18 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0001c0003 | 1/0 | 7437 | 20 | 17 | 2 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0001c0008 | 0/0 | 7437 | 4 | 1 | 1 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0001c0017 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0001c0018 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0001c0019 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0001c0020 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0002c0002 | 0/0 | 7437 | 31 | 0 | 6 | 24 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0003c0004 | 0/0 | 7437 | 16 | 16 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0004c0005 | 0/0 | 7437 | 13 | 10 | 3 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0005c0006 | 0/0 | 7437 | 11 | 2 | 2 | 7 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0005c0015 | 0/0 | 7437 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0006c0007 | 0/0 | 7437 | 6 | 1 | 0 | 2 | 0 | 3 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0006c0009 | 0/0 | 7437 | 4 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0007c0011 | 0/0 | 7437 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0008c0010 | 0/0 | 7437 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0009c0012 | 0/0 | 7437 | 2 | 0 | 0 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0009c0014 | 0/0 | 7437 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0010c0013 | 0/0 | 7437 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0011c0023 | 0/0 | 7437 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0012c0016 | 0/0 | 7437 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0013c0021 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0014c0022 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0015c0025 | 0/0 | 7437 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0016c0024 | 0/0 | 7437 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 | ||
a0017c0026 | 0/0 | 7437 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATGCC others(7432): Show |
chr12 | 88044016 | 88147088 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 7824 | 106 | 26 | 23 | 34 | 4 | 18 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0003t0001 | 1/0 | 7824 | 18 | 16 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0003t0002 | 0/0 | 7820 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7815): Show |
chr12 | 88044016 | 88147088 |
a0001c0003t0003 | 0/0 | 7824 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0008t0001 | 0/0 | 7824 | 4 | 1 | 1 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0017t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0018t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0019t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0001c0020t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0002c0002t0001 | 0/0 | 7824 | 31 | 0 | 6 | 24 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0003c0004t0001 | 0/0 | 7824 | 16 | 16 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0004c0005t0002 | 0/0 | 7820 | 12 | 9 | 3 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7815): Show |
chr12 | 88044016 | 88147088 |
a0004c0005t0004 | 0/0 | 7820 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7815): Show |
chr12 | 88044016 | 88147088 |
a0005c0006t0001 | 0/0 | 7824 | 11 | 2 | 2 | 7 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0005c0015t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0006c0007t0001 | 0/0 | 7824 | 6 | 1 | 0 | 2 | 0 | 3 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0006c0009t0001 | 0/0 | 7824 | 4 | 0 | 2 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0007c0011t0001 | 0/0 | 7824 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0008c0010t0001 | 0/0 | 7824 | 3 | 3 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0009c0012t0001 | 0/0 | 7824 | 2 | 0 | 0 | 0 | 0 | 2 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0009c0014t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0010c0013t0001 | 0/0 | 7824 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0011c0023t0001 | 0/0 | 7824 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0012c0016t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0013c0021t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0014c0022t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0015c0025t0001 | 0/0 | 7824 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0016c0024t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
a0017c0026t0001 | 0/0 | 7824 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | ATTCT others(7819): Show |
chr12 | 88044016 | 88147088 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0011 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0013 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0014 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0154 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0051 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0003t0003g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0008t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0008t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0008t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0008t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0017t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0018t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0019t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0001c0020t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0009 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0002c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0001 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0003c0004t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0003 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0004c0005t0004g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0006t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0005c0015t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0007t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0007t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0007t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0007t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0007t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0007t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0009t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0009t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0009t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0006c0009t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0007c0011t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0007c0011t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0007c0011t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0008c0010t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0008c0010t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0008c0010t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0009c0012t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0009c0012t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0009c0014t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0010c0013t0001g0010 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0011c0023t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0012c0016t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0013c0021t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0014c0022t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0015c0025t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0016c0024t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
a0017c0026t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0133 | EUR | GBR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0011 | EUR | GBR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00609 | hp1 | a0006 | c0007 | t0001 | g0090 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | CHS | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0106 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0149 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0179 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00741 | hp1 | a0002 | c0002 | t0001 | g0120 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG00741 | hp2 | a0001 | c0001 | t0001 | g0165 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01071 | hp2 | a0001 | c0003 | t0003 | g0015 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01074 | hp1 | a0002 | c0002 | t0001 | g0112 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01074 | hp2 | a0001 | c0008 | t0001 | g0200 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01081 | hp2 | a0002 | c0002 | t0001 | g0092 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0201 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01099 | hp2 | a0002 | c0002 | t0001 | g0009 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0105 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01106 | hp2 | a0006 | c0009 | t0001 | g0109 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01109 | hp1 | a0004 | c0005 | t0002 | g0035 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01109 | hp2 | a0002 | c0002 | t0001 | g0121 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0195 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01175 | hp2 | a0005 | c0006 | t0001 | g0073 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0169 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01192 | hp2 | a0004 | c0005 | t0002 | g0003 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01243 | hp1 | a0004 | c0005 | t0002 | g0029 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0147 | AMR | PUR | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01255 | hp1 | a0005 | c0006 | t0001 | g0072 | AMR | CLM | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | CLM | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01884 | hp1 | a0007 | c0011 | t0001 | g0018 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01891 | hp1 | a0001 | c0008 | t0001 | g0162 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01891 | hp2 | a0001 | c0003 | t0001 | g0049 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01934 | hp1 | a0011 | c0023 | t0001 | g0177 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01934 | hp2 | a0001 | c0001 | t0001 | g0095 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0173 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0096 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0196 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0156 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02004 | hp2 | a0006 | c0009 | t0001 | g0108 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02055 | hp1 | a0001 | c0003 | t0001 | g0048 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02055 | hp2 | a0004 | c0005 | t0002 | g0033 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02080 | hp1 | a0012 | c0016 | t0001 | g0089 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02145 | hp1 | a0006 | c0007 | t0001 | g0122 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02145 | hp2 | a0001 | c0001 | t0001 | g0140 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02155 | hp1 | a0005 | c0006 | t0001 | g0064 | EAS | CDX | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | CDX | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02257 | hp1 | a0001 | c0003 | t0001 | g0055 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02257 | hp2 | a0008 | c0010 | t0001 | g0025 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02258 | hp1 | a0001 | c0003 | t0001 | g0047 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02258 | hp2 | a0004 | c0005 | t0002 | g0036 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0187 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02280 | hp1 | a0003 | c0004 | t0001 | g0080 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0210 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02293 | hp1 | a0001 | c0003 | t0001 | g0050 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02293 | hp2 | a0002 | c0002 | t0001 | g0119 | AMR | PEL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02523 | hp1 | a0002 | c0002 | t0001 | g0198 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | KHV | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0183 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0182 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0152 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02615 | hp2 | a0003 | c0004 | t0001 | g0079 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02630 | hp2 | a0003 | c0004 | t0001 | g0045 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02647 | hp1 | a0007 | c0011 | t0001 | g0020 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02683 | hp1 | a0006 | c0009 | t0001 | g0127 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0155 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02698 | hp1 | a0006 | c0007 | t0001 | g0087 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02698 | hp2 | a0001 | c0001 | t0001 | g0141 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02717 | hp1 | a0003 | c0004 | t0001 | g0043 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0146 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02723 | hp1 | a0003 | c0004 | t0001 | g0001 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0128 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0129 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0207 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02818 | hp2 | a0001 | c0003 | t0001 | g0052 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0209 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02886 | hp2 | a0005 | c0006 | t0001 | g0071 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02895 | hp1 | a0013 | c0021 | t0001 | g0021 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02895 | hp2 | a0003 | c0004 | t0001 | g0078 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02896 | hp1 | a0003 | c0004 | t0001 | g0084 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02896 | hp2 | a0004 | c0005 | t0002 | g0034 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02922 | hp1 | a0001 | c0003 | t0001 | g0005 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0040 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02970 | hp1 | a0001 | c0001 | t0001 | g0151 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02970 | hp2 | a0004 | c0005 | t0002 | g0003 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02976 | hp1 | a0003 | c0004 | t0001 | g0082 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0150 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03041 | hp1 | a0003 | c0004 | t0001 | g0083 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03041 | hp2 | a0008 | c0010 | t0001 | g0026 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03098 | hp1 | a0001 | c0003 | t0001 | g0213 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0027 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03139 | hp1 | a0001 | c0001 | t0001 | g0193 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03139 | hp2 | a0003 | c0004 | t0001 | g0044 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03195 | hp1 | a0001 | c0001 | t0001 | g0039 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03195 | hp2 | a0003 | c0004 | t0001 | g0041 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03209 | hp1 | a0001 | c0003 | t0001 | g0059 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03209 | hp2 | a0001 | c0003 | t0002 | g0074 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03225 | hp1 | a0003 | c0004 | t0001 | g0081 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03225 | hp2 | a0007 | c0011 | t0001 | g0019 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03239 | hp1 | a0001 | c0001 | t0001 | g0168 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0204 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03453 | hp1 | a0003 | c0004 | t0001 | g0001 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03453 | hp2 | a0001 | c0017 | t0001 | g0016 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03516 | hp1 | a0001 | c0003 | t0001 | g0076 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03516 | hp2 | a0014 | c0022 | t0001 | g0099 | AFR | ESN | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03540 | hp1 | a0001 | c0003 | t0001 | g0060 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03540 | hp2 | a0008 | c0010 | t0001 | g0024 | AFR | GWD | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03579 | hp1 | a0004 | c0005 | t0002 | g0022 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03579 | hp2 | a0004 | c0005 | t0004 | g0214 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0167 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0194 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03710 | hp2 | a0006 | c0007 | t0001 | g0088 | SAS | PJL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0206 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0132 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0103 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0094 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04184 | hp1 | a0006 | c0009 | t0001 | g0110 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04184 | hp2 | a0002 | c0002 | t0001 | g0212 | SAS | BEB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0124 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04199 | hp2 | a0001 | c0008 | t0001 | g0161 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04204 | hp1 | a0006 | c0007 | t0001 | g0125 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04204 | hp2 | a0001 | c0008 | t0001 | g0163 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04228 | hp1 | a0009 | c0012 | t0001 | g0056 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0203 | SAS | STU | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18522 | hp2 | a0003 | c0004 | t0001 | g0001 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18612 | hp2 | a0005 | c0006 | t0001 | g0065 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18747 | hp1 | a0002 | c0002 | t0001 | g0118 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | CHB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18906 | hp1 | a0001 | c0020 | t0001 | g0053 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18906 | hp2 | a0003 | c0004 | t0001 | g0042 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18942 | hp2 | a0002 | c0002 | t0001 | g0114 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18947 | hp1 | a0009 | c0014 | t0001 | g0046 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18947 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18948 | hp2 | a0002 | c0002 | t0001 | g0004 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18949 | hp1 | a0002 | c0002 | t0001 | g0116 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18949 | hp2 | a0005 | c0006 | t0001 | g0067 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18951 | hp1 | a0002 | c0002 | t0001 | g0004 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18957 | hp1 | a0006 | c0007 | t0001 | g0126 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18957 | hp2 | a0002 | c0002 | t0001 | g0012 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18965 | hp1 | a0002 | c0002 | t0001 | g0004 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18965 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18968 | hp2 | a0002 | c0002 | t0001 | g0111 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18970 | hp1 | a0016 | c0024 | t0001 | g0102 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18970 | hp2 | a0002 | c0002 | t0001 | g0115 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18975 | hp1 | a0002 | c0002 | t0001 | g0186 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0136 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18978 | hp1 | a0002 | c0002 | t0001 | g0139 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18978 | hp2 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18981 | hp2 | a0010 | c0013 | t0001 | g0010 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18982 | hp1 | a0002 | c0002 | t0001 | g0138 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18982 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18984 | hp2 | a0002 | c0002 | t0001 | g0113 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18990 | hp1 | a0002 | c0002 | t0001 | g0123 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19000 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19000 | hp2 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19004 | hp1 | a0005 | c0006 | t0001 | g0069 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19004 | hp2 | a0002 | c0002 | t0001 | g0117 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19005 | hp2 | a0002 | c0002 | t0001 | g0009 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19009 | hp2 | a0017 | c0026 | t0001 | g0091 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19011 | hp1 | a0002 | c0002 | t0001 | g0197 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19011 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19030 | hp1 | a0001 | c0003 | t0001 | g0061 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0100 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19043 | hp1 | a0003 | c0004 | t0001 | g0001 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0104 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19058 | hp1 | a0005 | c0006 | t0001 | g0066 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19058 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19068 | hp1 | a0002 | c0002 | t0001 | g0137 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19077 | hp1 | a0010 | c0013 | t0001 | g0010 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19079 | hp1 | a0002 | c0002 | t0001 | g0012 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19082 | hp1 | a0002 | c0002 | t0001 | g0199 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19083 | hp1 | a0005 | c0006 | t0001 | g0070 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19083 | hp2 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19089 | hp1 | a0002 | c0002 | t0001 | g0134 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19089 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19091 | hp2 | a0005 | c0015 | t0001 | g0062 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19240 | hp1 | a0001 | c0003 | t0001 | g0085 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA19240 | hp2 | a0001 | c0003 | t0001 | g0058 | AFR | YRI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20129 | hp1 | a0001 | c0003 | t0001 | g0057 | AFR | ASW | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20129 | hp2 | a0004 | c0005 | t0002 | g0032 | AFR | ASW | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0159 | EUR | TSI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20805 | hp2 | a0001 | c0001 | t0001 | g0211 | EUR | TSI | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0142 | SAS | GIH | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20905 | hp2 | a0009 | c0012 | t0001 | g0054 | SAS | GIH | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02109 | hp1 | a0004 | c0005 | t0002 | g0037 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0093 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0208 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02486 | hp2 | a0001 | c0003 | t0001 | g0075 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG02559 | hp2 | a0001 | c0018 | t0001 | g0017 | AFR | ACB | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03471 | hp1 | a0001 | c0001 | t0001 | g0097 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG03471 | hp2 | a0001 | c0019 | t0001 | g0086 | AFR | MSL | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG06807 | hp1 | a0005 | c0006 | t0001 | g0063 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
HG06807 | hp2 | a0015 | c0025 | t0001 | g0107 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA18955 | hp2 | a0005 | c0006 | t0001 | g0068 | EAS | JPT | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA20300 | hp2 | a0004 | c0005 | t0002 | g0028 | AFR | USA | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA21309 | hp1 | a0004 | c0005 | t0002 | g0003 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
NA21309 | hp2 | a0001 | c0003 | t0001 | g0005 | AFR | LWK | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0154 | REF | REF | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
homoSapiens | grch38p0 | a0001 | c0003 | t0001 | g0051 | REF | REF | CEP290_chr12_88044016_88147088 | CEP290 | chr12 | 88044016 | 88147088 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:88055617 | C | T | 1 | a0013 | 1 | HG02895.hp1 | missense_variant | MODERATE | c.6919G>A | p.Glu2307Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/54 | 7135/7824 | 6919/7440 | 2307/2479 | chr12 | 88055617 | |||
chr12:88071860 | G | A | 1 | a0017 | 1 | NA19009.hp2 | stop_gained | HIGH | c.5776C>T | p.Arg1926* | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 42/54 | 5992/7824 | 5776/7440 | 1926/2479 | chr12 | 88071860 | |||
chr12:88079219 | C | T | 1 | a0009 | 3 | HG04228.hp1 NA18947.hp1 NA20905.hp2 |
missense_variant | MODERATE | c.5237G>A | p.Arg1746Gln | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 39/54 | 5453/7824 | 5237/7440 | 1746/2479 | chr12 | 88079219 | |||
chr12:88089271 | G | A | 1 | a0014 | 1 | HG03516.hp2 | missense_variant | MODERATE | c.3790C>T | p.Arg1264Cys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/54 | 4006/7824 | 3790/7440 | 1264/2479 | chr12 | 88089271 | |||
chr12:88089304 | G | A | 1 | a0011 | 1 | HG01934.hp1 | missense_variant | MODERATE | c.3757C>T | p.Arg1253Cys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/54 | 3973/7824 | 3757/7440 | 1253/2479 | chr12 | 88089304 | |||
chr12:88089351 | C | T | 1 | a0004 | 13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
missense_variant | MODERATE | c.3710G>A | p.Arg1237His | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/54 | 3926/7824 | 3710/7440 | 1237/2479 | chr12 | 88089351 | |||
chr12:88102849 | C | T | 1 | a0015 | 1 | HG06807.hp2 | missense_variant | MODERATE | c.2980G>A | p.Glu994Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/54 | 3196/7824 | 2980/7440 | 994/2479 | chr12 | 88102849 | |||
chr12:88103002 | T | C | 2 | a0007 a0013 |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
missense_variant | MODERATE | c.2827A>G | p.Ile943Val | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/54 | 3043/7824 | 2827/7440 | 943/2479 | chr12 | 88103002 | |||
chr12:88106775 | A | C | 1 | a0003 | 16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
missense_variant | MODERATE | c.2717T>G | p.Leu906Trp | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/54 | 2933/7824 | 2717/7440 | 906/2479 | chr12 | 88106775 | |||
chr12:88106854 | C | A | 1 | a0016 | 1 | NA18970.hp1 | missense_variant | MODERATE | c.2638G>T | p.Ala880Ser | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/54 | 2854/7824 | 2638/7440 | 880/2479 | chr12 | 88106854 | |||
chr12:88107070 | T | C | 6 | a0002 a0006 a0010 others(3): Show |
46 | HG00609.hp1 HG00741.hp1 HG01074.hp1 others(43): Show |
missense_variant | MODERATE | c.2512A>G | p.Lys838Glu | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 24/54 | 2728/7824 | 2512/7440 | 838/2479 | chr12 | 88107070 | |||
chr12:88114481 | T | C | 2 | a0002 a0010 |
33 | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(30): Show |
missense_variant | MODERATE | c.1991A>G | p.Asp664Gly | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/54 | 2207/7824 | 1991/7440 | 664/2479 | chr12 | 88114481 | |||
chr12:88118708 | A | G | 1 | a0008 | 3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1558T>C | p.Phe520Leu | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 16/54 | 1774/7824 | 1558/7440 | 520/2479 | chr12 | 88118708 | |||
chr12:88121050 | C | T | 1 | a0012 | 1 | HG02080.hp1 | missense_variant | MODERATE | c.1306G>A | p.Glu436Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/54 | 1522/7824 | 1306/7440 | 436/2479 | chr12 | 88121050 | |||
chr12:88129717 | C | G | 1 | a0005 | 12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
missense_variant | MODERATE | c.829G>C | p.Glu277Gln | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/54 | 1045/7824 | 829/7440 | 277/2479 | chr12 | 88129717 | |||
chr12:88136741 | T | C | 1 | a0010 | 2 | NA18981.hp2 NA19077.hp1 |
missense_variant | MODERATE | c.343A>G | p.Asn115Asp | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/54 | 559/7824 | 343/7440 | 115/2479 | chr12 | 88136741 |
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 cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:88059000 | T | C | 1 | a0005c0015 | 1 | NA19091.hp2 | synonymous_variant | LOW | c.6666A>G | p.Lys2222Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/54 | 6882/7824 | 6666/7440 | 2222/2479 | chr12 | 88059000 | |||
chr12:88060875 | A | T | 1 | a0001c0019 | 1 | HG03471.hp2 | synonymous_variant | LOW | c.6477T>A | p.Thr2159Thr | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/54 | 6693/7824 | 6477/7440 | 2159/2479 | chr12 | 88060875 | |||
chr12:88080209 | T | C | 2 | a0007c0011 a0013c0021 |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
synonymous_variant | LOW | c.5199A>G | p.Gln1733Gln | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/54 | 5415/7824 | 5199/7440 | 1733/2479 | chr12 | 88080209 | |||
chr12:88086159 | T | G | 1 | a0001c0020 | 1 | NA18906.hp1 | synonymous_variant | LOW | c.4317A>C | p.Thr1439Thr | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/54 | 4533/7824 | 4317/7440 | 1439/2479 | chr12 | 88086159 | |||
chr12:88087792 | C | T | 1 | a0001c0017 | 1 | HG03453.hp2 | synonymous_variant | LOW | c.4182G>A | p.Val1394Val | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/54 | 4398/7824 | 4182/7440 | 1394/2479 | chr12 | 88087792 | |||
chr12:88087855 | T | C | 2 | a0006c0009 a0015c0025 |
5 | HG01106.hp2 HG02004.hp2 HG02683.hp1 others(2): Show |
synonymous_variant | LOW | c.4119A>G | p.Lys1373Lys | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/54 | 4335/7824 | 4119/7440 | 1373/2479 | chr12 | 88087855 | |||
chr12:88090836 | C | T | 4 | a0001c0017 a0001c0018 a0007c0011 others(1): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
synonymous_variant | LOW | c.3465G>A | p.Leu1155Leu | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/54 | 3681/7824 | 3465/7440 | 1155/2479 | chr12 | 88090836 | |||
chr12:88111301 | T | C | 12 | a0001c0001 a0001c0008 a0002c0002 others(9): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
synonymous_variant | LOW | c.2268A>G | p.Ser756Ser | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/54 | 2484/7824 | 2268/7440 | 756/2479 | chr12 | 88111301 | |||
chr12:88111856 | A | G | 1 | a0001c0008 | 4 | HG01074.hp2 HG01891.hp1 HG04199.hp2 others(1): Show |
splice_region_variant&synonymous_variant | LOW | c.2055T>C | p.Ala685Ala | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 21/54 | 2271/7824 | 2055/7440 | 685/2479 | chr12 | 88111856 | |||
chr12:88136700 | A | G | 1 | a0009c0014 | 1 | NA18947.hp1 | synonymous_variant | LOW | c.384T>C | p.Asp128Asp | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/54 | 600/7824 | 384/7440 | 128/2479 | chr12 | 88136700 |
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 cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:88049161 | GAAAC | G | 3 | a0001c0003t0002 a0004c0005t0002 a0004c0005t0004 |
14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*19_*22delGTTT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 54/54 | 19 | chr12 | 88049161 | ||||||
chr12:88141968 | G | A | 1 | a0004c0005t0004 | 1 | HG03579.hp2 | 5_prime_UTR_variant | MODIFIER | c.-96C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/54 | 661 | chr12 | 88141968 | ||||||
chr12:88142008 | G | T | 1 | a0001c0003t0003 | 1 | HG01071.hp2 | 5_prime_UTR_variant | MODIFIER | c.-136C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/54 | 701 | chr12 | 88142008 |
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 cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr12:88049436 | A | G | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.7210-22T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049436 | |||||||
chr12:88049564 | G | T | 2 | a0001c0003t0001g0059 a0001c0003t0001g0060 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.7210-150C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049564 | |||||||
chr12:88049717 | A | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.7210-303T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049717 | |||||||
chr12:88049810 | CTA | C | 12 | a0001c0003t0002g0074 a0004c0005t0002g0003 a0004c0005t0002g0022 others(9): Show |
14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.7210-398_7210-397d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049810 | |||||||
chr12:88049864 | G | A | 1 | a0005c0006t0001g0071 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.7210-450C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88049864 | |||||||
chr12:88050154 | A | C | 1 | a0003c0004t0001g0045 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.7209+200T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88050154 | |||||||
chr12:88050277 | GTAGT | G | 3 | a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0172 |
3 | HG01243.hp2 HG01255.hp2 HG02273.hp1 |
intron_variant | MODIFIER | c.7209+73_7209+76del others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 53/53 | chr12 | 88050277 | |||||||
chr12:88050506 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.7130-73G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050506 | |||||||
chr12:88050562 | T | C | 8 | a0004c0005t0002g0003 a0004c0005t0002g0028 a0004c0005t0002g0029 others(5): Show |
10 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.7130-129A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050562 | |||||||
chr12:88050650 | C | G | 1 | a0001c0003t0001g0049 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.7130-217G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050650 | |||||||
chr12:88050783 | G | A | 143 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(140): Show |
157 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(154): Show |
intron_variant | MODIFIER | c.7130-350C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050783 | |||||||
chr12:88050815 | G | A | 75 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(72): Show |
80 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(77): Show |
intron_variant | MODIFIER | c.7130-382C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050815 | |||||||
chr12:88050951 | C | T | 2 | a0001c0003t0001g0075 a0001c0003t0001g0076 |
2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.7130-518G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88050951 | |||||||
chr12:88051068 | A | G | 1 | a0001c0001t0001g0105 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.7130-635T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051068 | |||||||
chr12:88051083 | A | G | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7130-650T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051083 | |||||||
chr12:88051192 | A | G | 2 | a0006c0007t0001g0090 a0012c0016t0001g0089 |
2 | HG00609.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.7130-759T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051192 | |||||||
chr12:88051194 | CT | C | 167 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(164): Show |
183 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(180): Show |
intron_variant | MODIFIER | c.7130-762delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051194 | |||||||
chr12:88051194 | CTT | C | 8 | a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0157 others(5): Show |
8 | HG01243.hp2 HG01255.hp2 HG01978.hp2 others(5): Show |
intron_variant | MODIFIER | c.7130-763_7130-762d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051194 | |||||||
chr12:88051791 | T | C | 1 | a0001c0001t0001g0144 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.7130-1358A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051791 | |||||||
chr12:88051916 | T | C | 1 | a0001c0003t0001g0048 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.7130-1483A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88051916 | |||||||
chr12:88052112 | T | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7129+1540A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052112 | |||||||
chr12:88052251 | T | G | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.7129+1401A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052251 | |||||||
chr12:88052252 | A | G | 6 | a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0156 others(3): Show |
6 | HG01099.hp1 HG02004.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.7129+1400T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052252 | |||||||
chr12:88052297 | T | A | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.7129+1355A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052297 | |||||||
chr12:88052392 | T | A | 1 | a0002c0002t0001g0123 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.7129+1260A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052392 | |||||||
chr12:88052626 | TGCATATA others(11): Show |
T | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.7129+1008_7129+102 others(22): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052626 | |||||||
chr12:88052645 | G | A | 143 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(140): Show |
157 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(154): Show |
intron_variant | MODIFIER | c.7129+1007C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88052645 | |||||||
chr12:88053082 | A | G | 1 | a0001c0001t0001g0132 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.7129+570T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053082 | |||||||
chr12:88053495 | A | G | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7129+157T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053495 | |||||||
chr12:88053547 | T | C | 2 | a0001c0003t0001g0049 a0001c0003t0001g0055 |
2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.7129+105A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053547 | |||||||
chr12:88053575 | AG | A | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7129+76delC | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053575 | |||||||
chr12:88053578 | CA | C | 15 | a0001c0001t0001g0100 a0001c0017t0001g0016 a0001c0018t0001g0017 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7129+73delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053578 | |||||||
chr12:88053579 | A | C | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.7129+73T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 52/53 | chr12 | 88053579 | |||||||
chr12:88053784 | G | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7035-38C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053784 | |||||||
chr12:88053928 | C | T | 2 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
2 | HG01884.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.7035-182G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053928 | |||||||
chr12:88053934 | C | T | 1 | a0001c0001t0001g0094 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.7035-188G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053934 | |||||||
chr12:88053962 | A | G | 1 | a0001c0001t0001g0101 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.7035-216T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88053962 | |||||||
chr12:88054065 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.7034+275G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054065 | |||||||
chr12:88054068 | G | T | 12 | a0001c0003t0002g0074 a0004c0005t0002g0003 a0004c0005t0002g0022 others(9): Show |
14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.7034+272C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054068 | |||||||
chr12:88054141 | G | A | 1 | a0002c0002t0001g0212 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.7034+199C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054141 | |||||||
chr12:88054289 | A | AT | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.7034+50dupA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 51/53 | chr12 | 88054289 | |||||||
chr12:88054551 | T | A | 19 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(16): Show |
22 | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.6961-138A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88054551 | |||||||
chr12:88054728 | G | A | 1 | a0001c0003t0001g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.6961-315C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88054728 | |||||||
chr12:88054933 | C | T | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0128 others(2): Show |
7 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.6961-520G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88054933 | |||||||
chr12:88055319 | A | G | 197 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(194): Show |
216 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(213): Show |
intron_variant | MODIFIER | c.6960+257T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055319 | |||||||
chr12:88055333 | A | T | 1 | a0009c0012t0001g0054 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.6960+243T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055333 | |||||||
chr12:88055409 | C | T | 1 | a0002c0002t0001g0113 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.6960+167G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055409 | |||||||
chr12:88055512 | T | C | 12 | a0001c0003t0002g0074 a0004c0005t0002g0003 a0004c0005t0002g0022 others(9): Show |
14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.6960+64A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055512 | |||||||
chr12:88055566 | C | T | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6960+10G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 50/53 | chr12 | 88055566 | |||||||
chr12:88056231 | T | C | 3 | a0001c0001t0001g0097 a0001c0001t0001g0106 a0014c0022t0001g0099 |
3 | HG00639.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.6819-514A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056231 | |||||||
chr12:88056685 | T | A | 71 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(68): Show |
77 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(74): Show |
intron_variant | MODIFIER | c.6819-968A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056685 | |||||||
chr12:88056792 | A | T | 1 | a0002c0002t0001g0198 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.6819-1075T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056792 | |||||||
chr12:88056836 | GTA | G | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6819-1121_6819-112 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056836 | |||||||
chr12:88056941 | C | A | 1 | a0002c0002t0001g0212 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.6819-1224G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056941 | |||||||
chr12:88056965 | A | C | 2 | a0001c0001t0001g0131 a0009c0014t0001g0046 |
2 | NA18947.hp1 NA18978.hp2 |
intron_variant | MODIFIER | c.6819-1248T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88056965 | |||||||
chr12:88057052 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6819-1335C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057052 | |||||||
chr12:88057237 | A | G | 1 | a0005c0006t0001g0065 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.6819-1520T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057237 | |||||||
chr12:88057504 | A | C | 2 | a0001c0003t0001g0075 a0001c0003t0001g0076 |
2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.6818+1344T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057504 | |||||||
chr12:88057515 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6818+1333C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057515 | |||||||
chr12:88057538 | T | G | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6818+1310A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057538 | |||||||
chr12:88057601 | T | G | 2 | a0001c0001t0001g0094 a0001c0001t0001g0124 |
2 | HG04115.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.6818+1247A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057601 | |||||||
chr12:88057838 | T | C | 5 | a0001c0001t0001g0182 a0001c0008t0001g0161 a0001c0008t0001g0162 others(2): Show |
5 | HG01074.hp2 HG01891.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.6818+1010A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057838 | |||||||
chr12:88057846 | A | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6818+1002T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057846 | |||||||
chr12:88057916 | G | A | 3 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 |
3 | HG02486.hp1 HG02818.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.6818+932C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057916 | |||||||
chr12:88057920 | A | G | 1 | a0001c0001t0001g0101 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.6818+928T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88057920 | |||||||
chr12:88058636 | G | C | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6818+212C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 49/53 | chr12 | 88058636 | |||||||
chr12:88059036 | A | G | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6646-16T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059036 | |||||||
chr12:88059295 | A | G | 12 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0094 others(9): Show |
14 | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.6646-275T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059295 | |||||||
chr12:88059394 | C | T | 179 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(176): Show |
195 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(192): Show |
intron_variant | MODIFIER | c.6646-374G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059394 | |||||||
chr12:88059629 | G | C | 1 | a0001c0001t0001g0124 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.6645+269C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059629 | |||||||
chr12:88059687 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6645+211C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059687 | |||||||
chr12:88059714 | A | T | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0128 others(2): Show |
7 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.6645+184T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059714 | |||||||
chr12:88059831 | C | T | 197 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(194): Show |
216 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(213): Show |
intron_variant | MODIFIER | c.6645+67G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 48/53 | chr12 | 88059831 | |||||||
chr12:88060085 | T | C | 1 | a0001c0020t0001g0053 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.6523-65A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060085 | |||||||
chr12:88060375 | T | C | 13 | a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0149 others(10): Show |
13 | HG00642.hp2 HG01074.hp2 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.6523-355A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060375 | |||||||
chr12:88060388 | T | A | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6523-368A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060388 | |||||||
chr12:88060516 | C | G | 1 | a0001c0001t0001g0135 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.6522+314G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060516 | |||||||
chr12:88060618 | A | G | 2 | a0001c0001t0001g0156 a0001c0001t0001g0187 |
2 | HG02004.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.6522+212T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060618 | |||||||
chr12:88060751 | T | C | 1 | a0005c0006t0001g0065 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.6522+79A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060751 | |||||||
chr12:88060788 | G | A | 4 | a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 others(1): Show |
4 | NA18949.hp2 NA19058.hp1 NA19083.hp1 others(1): Show |
intron_variant | MODIFIER | c.6522+42C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060788 | |||||||
chr12:88060817 | T | TA | 143 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(140): Show |
157 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(154): Show |
intron_variant | MODIFIER | c.6522+12dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 47/53 | chr12 | 88060817 | |||||||
chr12:88061285 | G | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6358-291C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061285 | |||||||
chr12:88061612 | TTTAG | T | 5 | a0003c0004t0001g0001 a0003c0004t0001g0042 a0003c0004t0001g0043 others(2): Show |
8 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(5): Show |
intron_variant | MODIFIER | c.6358-622_6358-619d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061612 | |||||||
chr12:88061787 | T | G | 12 | a0001c0003t0002g0074 a0004c0005t0002g0003 a0004c0005t0002g0022 others(9): Show |
14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.6358-793A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061787 | |||||||
chr12:88061792 | T | C | 7 | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 others(4): Show |
7 | HG01884.hp2 HG02451.hp1 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.6358-798A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061792 | |||||||
chr12:88061818 | G | A | 2 | a0002c0002t0001g0114 a0002c0002t0001g0117 |
2 | NA18942.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.6358-824C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061818 | |||||||
chr12:88061978 | C | T | 1 | a0007c0011t0001g0019 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.6357+714G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88061978 | |||||||
chr12:88062025 | C | T | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.6357+667G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062025 | |||||||
chr12:88062397 | G | A | 1 | a0001c0003t0001g0075 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.6357+295C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062397 | |||||||
chr12:88062533 | T | C | 1 | a0001c0003t0001g0061 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.6357+159A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062533 | |||||||
chr12:88062672 | T | A | 12 | a0001c0003t0002g0074 a0004c0005t0002g0003 a0004c0005t0002g0022 others(9): Show |
14 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.6357+20A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 46/53 | chr12 | 88062672 | |||||||
chr12:88062864 | A | G | 1 | a0001c0001t0001g0184 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.6271-86T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88062864 | |||||||
chr12:88062995 | C | T | 1 | a0003c0004t0001g0080 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.6271-217G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88062995 | |||||||
chr12:88063003 | A | G | 1 | a0001c0001t0001g0169 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.6271-225T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063003 | |||||||
chr12:88063058 | C | A | 1 | a0001c0003t0001g0085 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.6271-280G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063058 | |||||||
chr12:88063133 | A | C | 1 | a0003c0004t0001g0041 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6271-355T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063133 | |||||||
chr12:88063142 | CA | C | 149 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(146): Show |
163 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(160): Show |
intron_variant | MODIFIER | c.6271-365delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063142 | |||||||
chr12:88063196 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.6271-418C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063196 | |||||||
chr12:88063232 | G | A | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.6271-454C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063232 | |||||||
chr12:88063733 | A | G | 2 | a0001c0001t0001g0159 a0001c0001t0001g0201 |
2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.6270+248T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063733 | |||||||
chr12:88063740 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.6270+241G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 45/53 | chr12 | 88063740 | |||||||
chr12:88064224 | G | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.6136-109C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064224 | |||||||
chr12:88064238 | C | T | 3 | a0001c0001t0001g0097 a0001c0001t0001g0106 a0014c0022t0001g0099 |
3 | HG00639.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.6136-123G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064238 | |||||||
chr12:88064239 | G | A | 1 | a0001c0001t0001g0129 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.6136-124C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064239 | |||||||
chr12:88064264 | T | C | 1 | a0003c0004t0001g0042 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.6136-149A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064264 | |||||||
chr12:88064294 | C | CA | 198 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(195): Show |
217 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(214): Show |
intron_variant | MODIFIER | c.6136-180dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064294 | |||||||
chr12:88064369 | C | G | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.6136-254G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064369 | |||||||
chr12:88064435 | C | T | 1 | a0001c0001t0001g0209 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.6136-320G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064435 | |||||||
chr12:88064659 | C | T | 1 | a0006c0007t0001g0088 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.6136-544G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064659 | |||||||
chr12:88064788 | T | C | 30 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(27): Show |
32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.6136-673A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064788 | |||||||
chr12:88064919 | C | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.6136-804G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88064919 | |||||||
chr12:88065045 | TC | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6136-931delG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065045 | |||||||
chr12:88065048 | A | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.6136-933T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065048 | |||||||
chr12:88065155 | A | T | 1 | a0003c0004t0001g0084 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.6136-1040T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065155 | |||||||
chr12:88065339 | TTTTG | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.6136-1228_6136-122 others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065339 | |||||||
chr12:88065377 | C | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6136-1262G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065377 | |||||||
chr12:88065532 | T | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.6136-1417A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065532 | |||||||
chr12:88065609 | A | G | 1 | a0015c0025t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.6136-1494T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065609 | |||||||
chr12:88065662 | T | G | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.6136-1547A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065662 | |||||||
chr12:88065726 | G | T | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.6136-1611C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065726 | |||||||
chr12:88065888 | T | C | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.6136-1773A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065888 | |||||||
chr12:88065998 | T | C | 19 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(16): Show |
22 | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.6136-1883A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88065998 | |||||||
chr12:88066077 | A | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.6136-1962T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066077 | |||||||
chr12:88066104 | CATAGATA others(3): Show |
C | 5 | a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0172 others(2): Show |
5 | HG01243.hp2 HG01255.hp2 HG01978.hp2 others(2): Show |
intron_variant | MODIFIER | c.6136-1999_6136-199 others(14): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066104 | |||||||
chr12:88066345 | T | G | 199 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(196): Show |
218 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(215): Show |
intron_variant | MODIFIER | c.6135+2177A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066345 | |||||||
chr12:88066445 | G | A | 1 | a0001c0001t0001g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.6135+2077C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066445 | |||||||
chr12:88066471 | TTC | T | 170 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(167): Show |
186 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(183): Show |
intron_variant | MODIFIER | c.6135+2049_6135+205 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066471 | |||||||
chr12:88066472 | TC | T | 10 | a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 others(7): Show |
10 | HG00639.hp1 HG01106.hp1 HG01192.hp1 others(7): Show |
intron_variant | MODIFIER | c.6135+2049delG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066472 | |||||||
chr12:88066780 | A | G | 1 | a0001c0001t0001g0183 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.6135+1742T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88066780 | |||||||
chr12:88067214 | TA | T | 31 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(28): Show |
34 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.6135+1307delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067214 | |||||||
chr12:88067336 | C | T | 1 | a0002c0002t0001g0212 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.6135+1186G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067336 | |||||||
chr12:88067433 | G | A | 6 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0128 others(3): Show |
8 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.6135+1089C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067433 | |||||||
chr12:88067466 | A | T | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.6135+1056T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067466 | |||||||
chr12:88067499 | T | TAA | 12 | a0006c0007t0001g0087 a0006c0007t0001g0088 a0006c0007t0001g0090 others(9): Show |
12 | HG00609.hp1 HG01106.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.6135+1021_6135+102 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067499 | |||||||
chr12:88067506 | C | T | 1 | a0004c0005t0002g0022 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.6135+1016G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067506 | |||||||
chr12:88067952 | C | T | 1 | a0001c0001t0001g0182 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.6135+570G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88067952 | |||||||
chr12:88068112 | A | T | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.6135+410T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88068112 | |||||||
chr12:88068386 | A | G | 1 | a0001c0003t0001g0058 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.6135+136T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 44/53 | chr12 | 88068386 | |||||||
chr12:88068743 | G | A | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6012-98C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88068743 | |||||||
chr12:88069266 | T | C | 1 | a0001c0001t0001g0170 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.6012-621A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069266 | |||||||
chr12:88069367 | G | A | 7 | a0006c0007t0001g0087 a0006c0007t0001g0088 a0006c0007t0001g0090 others(4): Show |
7 | HG00609.hp1 HG02080.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.6012-722C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069367 | |||||||
chr12:88069674 | T | C | 74 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(71): Show |
79 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.6012-1029A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069674 | |||||||
chr12:88069739 | T | C | 15 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(12): Show |
17 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.6012-1094A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069739 | |||||||
chr12:88069969 | G | A | 1 | a0003c0004t0001g0041 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.6012-1324C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069969 | |||||||
chr12:88069978 | G | GTT | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6011+1314_6011+131 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88069978 | |||||||
chr12:88070163 | G | A | 9 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(6): Show |
9 | HG02155.hp1 HG06807.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.6011+1131C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88070163 | |||||||
chr12:88070329 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0093 |
3 | HG02109.hp2 HG02559.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.6011+965G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88070329 | |||||||
chr12:88070669 | T | C | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.6011+625A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88070669 | |||||||
chr12:88071112 | T | C | 1 | a0001c0003t0001g0049 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.6011+182A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88071112 | |||||||
chr12:88071133 | A | AAT | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.6011+160_6011+161i others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88071133 | |||||||
chr12:88071210 | A | C | 1 | a0001c0001t0001g0205 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.6011+84T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 43/53 | chr12 | 88071210 | |||||||
chr12:88072085 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5710-159C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072085 | |||||||
chr12:88072288 | AGTTTTGA others(4): Show |
A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.5710-373_5710-363d others(13): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072288 | |||||||
chr12:88072440 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5710-514A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072440 | |||||||
chr12:88072571 | C | T | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5710-645G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072571 | |||||||
chr12:88072892 | T | C | 5 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(2): Show |
5 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.5710-966A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072892 | |||||||
chr12:88072991 | T | C | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5710-1065A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88072991 | |||||||
chr12:88073450 | T | C | 2 | a0001c0001t0001g0165 a0001c0001t0001g0179 |
2 | HG00735.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.5710-1524A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073450 | |||||||
chr12:88073474 | T | G | 1 | a0001c0001t0001g0129 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.5710-1548A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073474 | |||||||
chr12:88073710 | T | C | 5 | a0006c0009t0001g0108 a0006c0009t0001g0109 a0006c0009t0001g0110 others(2): Show |
5 | HG01106.hp2 HG02004.hp2 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.5710-1784A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073710 | |||||||
chr12:88073761 | A | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5710-1835T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88073761 | |||||||
chr12:88074181 | C | T | 1 | a0001c0001t0001g0172 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.5710-2255G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074181 | |||||||
chr12:88074221 | A | G | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.5710-2295T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074221 | |||||||
chr12:88074288 | A | G | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5710-2362T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074288 | |||||||
chr12:88074313 | C | A | 6 | a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0156 others(3): Show |
6 | HG01099.hp1 HG02004.hp1 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.5710-2387G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074313 | |||||||
chr12:88074531 | C | T | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.5710-2605G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074531 | |||||||
chr12:88074694 | C | A | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.5709+2528G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074694 | |||||||
chr12:88074722 | G | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.5709+2500C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074722 | |||||||
chr12:88074743 | C | G | 1 | a0009c0012t0001g0054 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.5709+2479G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88074743 | |||||||
chr12:88075105 | C | A | 2 | a0001c0001t0001g0038 a0001c0001t0001g0040 |
2 | HG02451.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.5709+2117G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075105 | |||||||
chr12:88075193 | C | T | 1 | a0001c0001t0001g0152 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5709+2029G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075193 | |||||||
chr12:88075290 | GT | G | 193 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(190): Show |
212 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(209): Show |
intron_variant | MODIFIER | c.5709+1931delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075290 | |||||||
chr12:88075547 | G | C | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.5709+1675C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075547 | |||||||
chr12:88075637 | G | T | 1 | a0005c0006t0001g0071 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.5709+1585C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075637 | |||||||
chr12:88075750 | T | A | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.5709+1472A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075750 | |||||||
chr12:88075755 | C | T | 1 | a0007c0011t0001g0019 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.5709+1467G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075755 | |||||||
chr12:88075882 | C | T | 1 | a0004c0005t0002g0037 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.5709+1340G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88075882 | |||||||
chr12:88076241 | C | A | 72 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(69): Show |
77 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(74): Show |
intron_variant | MODIFIER | c.5709+981G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076241 | |||||||
chr12:88076317 | G | A | 9 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(6): Show |
9 | HG02155.hp1 HG06807.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.5709+905C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076317 | |||||||
chr12:88076509 | C | T | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.5709+713G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076509 | |||||||
chr12:88076617 | T | G | 1 | a0001c0003t0002g0074 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.5709+605A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076617 | |||||||
chr12:88076621 | G | GTTGA | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.5709+600_5709+601i others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076621 | |||||||
chr12:88076823 | T | C | 1 | a0005c0006t0001g0069 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.5709+399A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076823 | |||||||
chr12:88076897 | G | A | 1 | a0005c0006t0001g0063 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5709+325C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88076897 | |||||||
chr12:88077174 | A | T | 1 | a0001c0001t0001g0103 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.5709+48T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077174 | |||||||
chr12:88077177 | C | G | 5 | a0001c0001t0001g0182 a0001c0008t0001g0161 a0001c0008t0001g0162 others(2): Show |
5 | HG01074.hp2 HG01891.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.5709+45G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077177 | |||||||
chr12:88077197 | T | G | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.5709+25A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077197 | |||||||
chr12:88077204 | G | T | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5709+18C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 41/53 | chr12 | 88077204 | |||||||
chr12:88077442 | T | C | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5587-98A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 40/53 | chr12 | 88077442 | |||||||
chr12:88077608 | C | T | 1 | a0001c0001t0001g0171 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.5586+89G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 40/53 | chr12 | 88077608 | |||||||
chr12:88078196 | C | T | 1 | a0001c0001t0001g0146 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5365-278G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 39/53 | chr12 | 88078196 | |||||||
chr12:88078320 | T | C | 1 | a0001c0001t0001g0156 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.5365-402A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 39/53 | chr12 | 88078320 | |||||||
chr12:88079272 | C | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.5227-43G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88079272 | |||||||
chr12:88079341 | ATAT | A | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5227-115_5227-113d others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88079341 | |||||||
chr12:88079530 | T | G | 36 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(33): Show |
38 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.5227-301A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88079530 | |||||||
chr12:88080044 | C | A | 4 | a0005c0006t0001g0066 a0005c0006t0001g0067 a0005c0006t0001g0070 others(1): Show |
4 | NA18949.hp2 NA19058.hp1 NA19083.hp1 others(1): Show |
intron_variant | MODIFIER | c.5226+138G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88080044 | |||||||
chr12:88080048 | A | G | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.5226+134T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 38/53 | chr12 | 88080048 | |||||||
chr12:88080419 | G | A | 1 | a0001c0003t0001g0060 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.5013-24C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080419 | |||||||
chr12:88080720 | C | T | 1 | a0006c0007t0001g0088 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.5013-325G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080720 | |||||||
chr12:88080857 | G | A | 1 | a0001c0001t0001g0027 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5013-462C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080857 | |||||||
chr12:88080892 | G | A | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.5013-497C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88080892 | |||||||
chr12:88081000 | T | A | 1 | a0001c0001t0001g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.5013-605A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081000 | |||||||
chr12:88081209 | C | T | 2 | a0002c0002t0001g0012 a0002c0002t0001g0186 |
3 | NA18957.hp2 NA18975.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.5013-814G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081209 | |||||||
chr12:88081235 | G | A | 1 | a0002c0002t0001g0119 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.5013-840C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081235 | |||||||
chr12:88081372 | CTA | C | 2 | a0007c0011t0001g0020 a0013c0021t0001g0021 |
2 | HG02647.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.5013-979_5013-978d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081372 | |||||||
chr12:88081379 | T | C | 1 | a0006c0009t0001g0109 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.5013-984A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081379 | |||||||
chr12:88081662 | T | A | 1 | a0001c0001t0001g0182 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5013-1267A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081662 | |||||||
chr12:88081667 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.5013-1272G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88081667 | |||||||
chr12:88082192 | T | A | 1 | a0001c0001t0001g0136 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.5012+839A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082192 | |||||||
chr12:88082273 | T | C | 3 | a0004c0005t0002g0022 a0004c0005t0002g0032 a0004c0005t0004g0214 |
3 | HG03579.hp1 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.5012+758A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082273 | |||||||
chr12:88082334 | C | T | 1 | a0003c0004t0001g0079 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.5012+697G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082334 | |||||||
chr12:88082355 | T | A | 1 | a0005c0006t0001g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.5012+676A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082355 | |||||||
chr12:88082365 | G | A | 1 | a0001c0001t0001g0182 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.5012+666C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082365 | |||||||
chr12:88082573 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.5012+458T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082573 | |||||||
chr12:88082592 | G | A | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.5012+439C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082592 | |||||||
chr12:88082889 | T | C | 2 | a0001c0003t0001g0050 a0001c0003t0003g0015 |
2 | HG01071.hp2 HG02293.hp1 |
intron_variant | MODIFIER | c.5012+142A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 37/53 | chr12 | 88082889 | |||||||
chr12:88083232 | T | C | 1 | a0003c0004t0001g0083 | 1 | HG03041.hp1 | splice_acceptor_variant&intron_variant | HIGH | c.4813-2A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083232 | |||||||
chr12:88083433 | G | A | 1 | a0003c0004t0001g0084 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.4813-203C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083433 | |||||||
chr12:88083499 | A | G | 1 | a0003c0004t0001g0083 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.4813-269T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083499 | |||||||
chr12:88083532 | A | G | 1 | a0001c0001t0001g0205 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.4813-302T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083532 | |||||||
chr12:88083543 | T | A | 1 | a0003c0004t0001g0042 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4812+304A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | 88083543 | |||||||
chr12:88084130 | C | T | 1 | a0004c0005t0004g0214 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.4705-176G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084130 | |||||||
chr12:88084211 | T | C | 11 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 others(8): Show |
11 | HG00099.hp1 HG01106.hp1 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.4705-257A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084211 | |||||||
chr12:88084272 | T | A | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.4704+314A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084272 | |||||||
chr12:88084305 | C | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.4704+281G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084305 | |||||||
chr12:88084321 | TA | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.4704+264delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084321 | |||||||
chr12:88084539 | TA | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.4704+46delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 35/53 | chr12 | 88084539 | |||||||
chr12:88084969 | T | C | 1 | a0005c0006t0001g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.4438-117A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88084969 | |||||||
chr12:88085096 | T | C | 1 | a0001c0017t0001g0016 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.4438-244A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085096 | |||||||
chr12:88085105 | G | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.4438-253C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085105 | |||||||
chr12:88085655 | C | T | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.4437+384G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085655 | |||||||
chr12:88085657 | T | C | 1 | a0010c0013t0001g0010 | 2 | NA18981.hp2 NA19077.hp1 |
intron_variant | MODIFIER | c.4437+382A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085657 | |||||||
chr12:88085705 | T | C | 1 | a0001c0001t0001g0130 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4437+334A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085705 | |||||||
chr12:88085715 | A | C | 3 | a0003c0004t0001g0079 a0003c0004t0001g0080 a0003c0004t0001g0081 |
3 | HG02280.hp1 HG02615.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.4437+324T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085715 | |||||||
chr12:88085847 | A | G | 1 | a0001c0001t0001g0151 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.4437+192T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085847 | |||||||
chr12:88085992 | A | C | 1 | a0001c0001t0001g0202 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.4437+47T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 34/53 | chr12 | 88085992 | |||||||
chr12:88086533 | C | T | 1 | a0001c0001t0001g0104 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.4195-35G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086533 | |||||||
chr12:88086704 | T | TATCCATC others(1): Show |
4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.4195-214_4195-207d others(10): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | |||||||
chr12:88086704 | T | TATCCATC others(9): Show |
73 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0023 others(70): Show |
81 | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.4195-222_4195-207d others(18): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | |||||||
chr12:88086704 | T | TATCCATC others(13): Show |
80 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 others(77): Show |
88 | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(85): Show |
intron_variant | MODIFIER | c.4195-226_4195-207d others(22): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | |||||||
chr12:88086704 | T | TATCCATC others(17): Show |
6 | a0001c0001t0001g0140 a0001c0008t0001g0200 a0002c0002t0001g0112 others(3): Show |
6 | HG01074.hp1 HG01074.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.4195-230_4195-207d others(26): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086704 | |||||||
chr12:88086712 | C | CATCCATC others(9): Show |
1 | a0001c0001t0001g0133 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.4195-215_4195-214i others(18): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086712 | |||||||
chr12:88086838 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.4195-340G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086838 | |||||||
chr12:88086839 | G | A | 2 | a0001c0003t0001g0075 a0001c0003t0001g0076 |
2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.4195-341C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086839 | |||||||
chr12:88086846 | G | A | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.4195-348C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88086846 | |||||||
chr12:88087004 | A | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.4195-506T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087004 | |||||||
chr12:88087110 | G | C | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.4195-612C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087110 | |||||||
chr12:88087123 | T | C | 1 | a0001c0001t0001g0142 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.4195-625A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087123 | |||||||
chr12:88087149 | T | C | 150 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(147): Show |
164 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(161): Show |
intron_variant | MODIFIER | c.4194+631A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087149 | |||||||
chr12:88087495 | C | T | 1 | a0001c0008t0001g0162 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.4194+285G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087495 | |||||||
chr12:88087582 | C | T | 1 | a0001c0001t0001g0209 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4194+198G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087582 | |||||||
chr12:88087719 | C | CA | 29 | a0001c0001t0001g0096 a0001c0001t0001g0131 a0001c0001t0001g0140 others(26): Show |
29 | HG01106.hp2 HG01255.hp1 HG01981.hp1 others(26): Show |
intron_variant | MODIFIER | c.4194+60dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087719 | |||||||
chr12:88087719 | CA | C | 9 | a0001c0001t0001g0038 a0001c0001t0001g0144 a0007c0011t0001g0018 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.4194+60delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087719 | |||||||
chr12:88087738 | A | C | 2 | a0001c0001t0001g0158 a0001c0001t0001g0191 |
2 | HG02135.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.4194+42T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 32/53 | chr12 | 88087738 | |||||||
chr12:88088170 | T | A | 1 | a0001c0003t0001g0061 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4030-226A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088170 | |||||||
chr12:88088317 | T | C | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.4030-373A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088317 | |||||||
chr12:88088354 | T | C | 1 | a0001c0001t0001g0176 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.4030-410A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088354 | |||||||
chr12:88088561 | C | T | 1 | a0002c0002t0001g0120 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.4029+471G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088561 | |||||||
chr12:88088760 | C | G | 1 | a0005c0006t0001g0063 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.4029+272G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 31/53 | chr12 | 88088760 | |||||||
chr12:88089495 | TA | T | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.3574-9delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089495 | |||||||
chr12:88089726 | G | GT | 10 | a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0003t0001g0048 others(7): Show |
10 | HG01884.hp1 HG01934.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.3574-240dupA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089726 | |||||||
chr12:88089788 | G | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.3574-301C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089788 | |||||||
chr12:88089812 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3574-325G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089812 | |||||||
chr12:88089883 | C | T | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3574-396G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089883 | |||||||
chr12:88089888 | G | A | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.3574-401C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089888 | |||||||
chr12:88089955 | G | C | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3574-468C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88089955 | |||||||
chr12:88090039 | T | G | 3 | a0001c0001t0001g0097 a0001c0001t0001g0106 a0014c0022t0001g0099 |
3 | HG00639.hp2 HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.3574-552A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090039 | |||||||
chr12:88090049 | T | C | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3574-562A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090049 | |||||||
chr12:88090222 | T | C | 30 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(27): Show |
32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.3573+506A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090222 | |||||||
chr12:88090313 | T | G | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.3573+415A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090313 | |||||||
chr12:88090410 | T | C | 7 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(4): Show |
7 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.3573+318A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090410 | |||||||
chr12:88090501 | G | A | 1 | a0001c0003t0001g0057 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.3573+227C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090501 | |||||||
chr12:88090541 | G | T | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.3573+187C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 30/53 | chr12 | 88090541 | |||||||
chr12:88091054 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3462-215A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091054 | |||||||
chr12:88091125 | T | C | 3 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 |
3 | HG02486.hp2 HG03209.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.3462-286A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091125 | |||||||
chr12:88091402 | CA | C | 162 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(159): Show |
178 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(175): Show |
intron_variant | MODIFIER | c.3462-564delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091402 | |||||||
chr12:88091402 | CAA | C | 16 | a0001c0001t0001g0202 a0001c0003t0001g0075 a0001c0003t0001g0076 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.3462-565_3462-564d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091402 | |||||||
chr12:88091455 | C | A | 1 | a0001c0001t0001g0207 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3462-616G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091455 | |||||||
chr12:88091570 | G | C | 1 | a0017c0026t0001g0091 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.3462-731C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091570 | |||||||
chr12:88091637 | T | C | 1 | a0005c0006t0001g0065 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3462-798A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091637 | |||||||
chr12:88091677 | A | T | 21 | a0001c0001t0001g0100 a0001c0001t0001g0188 a0001c0001t0001g0206 others(18): Show |
21 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(18): Show |
intron_variant | MODIFIER | c.3462-838T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091677 | |||||||
chr12:88091765 | TTA | T | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.3461+914_3461+915d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091765 | |||||||
chr12:88091864 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3461+817C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88091864 | |||||||
chr12:88092058 | A | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3461+623T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092058 | |||||||
chr12:88092070 | G | A | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3461+611C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092070 | |||||||
chr12:88092082 | C | T | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.3461+599G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092082 | |||||||
chr12:88092217 | C | T | 1 | a0006c0007t0001g0122 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3461+464G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092217 | |||||||
chr12:88092237 | T | C | 1 | a0001c0003t0002g0074 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3461+444A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 29/53 | chr12 | 88092237 | |||||||
chr12:88093052 | A | C | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3310-220T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093052 | |||||||
chr12:88093428 | G | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.3309+342C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093428 | |||||||
chr12:88093429 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3309+341G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093429 | |||||||
chr12:88093545 | A | C | 13 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(10): Show |
16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.3309+225T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093545 | |||||||
chr12:88093727 | T | C | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3309+43A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 28/53 | chr12 | 88093727 | |||||||
chr12:88094107 | C | G | 1 | a0003c0004t0001g0083 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3104-132G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094107 | |||||||
chr12:88094321 | T | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.3104-346A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094321 | |||||||
chr12:88094644 | G | A | 3 | a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0100 |
4 | HG02109.hp2 HG02559.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.3104-669C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094644 | |||||||
chr12:88094657 | A | ATTAG | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-686_3104-683d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094657 | |||||||
chr12:88094672 | AG | A | 179 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(176): Show |
195 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(192): Show |
intron_variant | MODIFIER | c.3104-698delC | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094672 | |||||||
chr12:88094825 | C | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.3104-850G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094825 | |||||||
chr12:88094858 | G | A | 1 | a0001c0001t0001g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3104-883C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88094858 | |||||||
chr12:88095044 | G | A | 1 | a0006c0009t0001g0127 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.3104-1069C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095044 | |||||||
chr12:88095108 | T | A | 1 | a0001c0001t0001g0178 | 1 | NA18965.hp2 | intron_variant | MODIFIER | c.3104-1133A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095108 | |||||||
chr12:88095201 | A | T | 1 | a0005c0006t0001g0065 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.3104-1226T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095201 | |||||||
chr12:88095231 | G | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-1256C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095231 | |||||||
chr12:88095233 | C | T | 3 | a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0085 |
3 | HG03209.hp1 HG03540.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3104-1258G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095233 | |||||||
chr12:88095262 | A | C | 6 | a0002c0002t0001g0009 a0002c0002t0001g0092 a0002c0002t0001g0111 others(3): Show |
7 | HG01074.hp1 HG01081.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.3104-1287T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095262 | |||||||
chr12:88095274 | G | C | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3104-1299C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095274 | |||||||
chr12:88095302 | T | C | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.3104-1327A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095302 | |||||||
chr12:88095396 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3104-1421C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095396 | |||||||
chr12:88095948 | T | C | 2 | a0004c0005t0002g0022 a0004c0005t0004g0214 |
2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3103+940A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88095948 | |||||||
chr12:88096018 | A | G | 1 | a0005c0006t0001g0064 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.3103+870T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096018 | |||||||
chr12:88096050 | AT | A | 70 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(67): Show |
79 | HG00099.hp1 HG00099.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.3103+837delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096050 | |||||||
chr12:88096050 | ATT | A | 20 | a0001c0001t0001g0038 a0001c0001t0001g0124 a0001c0001t0001g0132 others(17): Show |
22 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(19): Show |
intron_variant | MODIFIER | c.3103+836_3103+837d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096050 | |||||||
chr12:88096050 | ATTTT | A | 74 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(71): Show |
79 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.3103+834_3103+837d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096050 | |||||||
chr12:88096133 | C | G | 1 | a0001c0001t0001g0031 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3103+755G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096133 | |||||||
chr12:88096146 | T | A | 1 | a0014c0022t0001g0099 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.3103+742A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096146 | |||||||
chr12:88096154 | T | C | 1 | a0001c0018t0001g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3103+734A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096154 | |||||||
chr12:88096268 | C | T | 1 | a0001c0001t0001g0209 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.3103+620G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096268 | |||||||
chr12:88096277 | G | T | 1 | a0003c0004t0001g0041 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3103+611C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096277 | |||||||
chr12:88096329 | T | C | 1 | a0004c0005t0004g0214 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3103+559A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096329 | |||||||
chr12:88096342 | C | T | 28 | a0001c0001t0001g0101 a0002c0002t0001g0004 a0002c0002t0001g0006 others(25): Show |
34 | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(31): Show |
intron_variant | MODIFIER | c.3103+546G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096342 | |||||||
chr12:88096394 | T | C | 1 | a0006c0007t0001g0122 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3103+494A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096394 | |||||||
chr12:88096519 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.3103+369A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 27/53 | chr12 | 88096519 | |||||||
chr12:88097077 | T | C | 1 | a0001c0001t0001g0157 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2992-78A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097077 | |||||||
chr12:88097321 | C | T | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992-322G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097321 | |||||||
chr12:88097517 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-518A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097517 | |||||||
chr12:88097604 | CACACAT | C | 2 | a0002c0002t0001g0120 a0002c0002t0001g0121 |
2 | HG00741.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.2992-611_2992-606d others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097604 | |||||||
chr12:88097606 | CACAT | C | 3 | a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 |
3 | NA18942.hp2 NA18970.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.2992-611_2992-608d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097606 | |||||||
chr12:88097608 | C | CACAT | 2 | a0001c0001t0001g0159 a0001c0001t0001g0201 |
2 | HG01099.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.2992-610_2992-609i others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097608 | |||||||
chr12:88097608 | CAT | C | 23 | a0001c0001t0001g0101 a0002c0002t0001g0004 a0002c0002t0001g0006 others(20): Show |
27 | HG01074.hp1 HG01081.hp2 HG01099.hp2 others(24): Show |
intron_variant | MODIFIER | c.2992-611_2992-610d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097608 | |||||||
chr12:88097610 | T | C | 4 | a0001c0001t0001g0159 a0001c0001t0001g0201 a0002c0002t0001g0004 others(1): Show |
4 | HG01099.hp1 HG04184.hp2 NA18965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2992-611A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | |||||||
chr12:88097610 | T | TAC | 83 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(80): Show |
90 | HG00099.hp1 HG00099.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.2992-613_2992-612d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | |||||||
chr12:88097610 | T | TACAC | 10 | a0001c0001t0001g0030 a0001c0001t0001g0094 a0001c0001t0001g0103 others(7): Show |
10 | HG00642.hp2 HG02145.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.2992-615_2992-612d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | |||||||
chr12:88097610 | TAC | T | 25 | a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0135 others(22): Show |
28 | HG00639.hp2 HG01106.hp2 HG01192.hp1 others(25): Show |
intron_variant | MODIFIER | c.2992-613_2992-612d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | |||||||
chr12:88097610 | TACAC | T | 11 | a0001c0003t0002g0074 a0001c0017t0001g0016 a0001c0018t0001g0017 others(8): Show |
11 | HG02280.hp1 HG02559.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.2992-615_2992-612d others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | |||||||
chr12:88097610 | TACACAC | T | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2992-617_2992-612d others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097610 | |||||||
chr12:88097640 | T | C | 1 | a0001c0001t0001g0098 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.2992-641A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097640 | |||||||
chr12:88097872 | C | T | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.2992-873G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88097872 | |||||||
chr12:88098071 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2992-1072G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098071 | |||||||
chr12:88098105 | G | A | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2992-1106C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098105 | |||||||
chr12:88098118 | C | A | 2 | a0006c0007t0001g0090 a0012c0016t0001g0089 |
2 | HG00609.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.2992-1119G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098118 | |||||||
chr12:88098167 | T | C | 1 | a0004c0005t0002g0037 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2992-1168A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098167 | |||||||
chr12:88098770 | C | A | 3 | a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0055 |
3 | HG01891.hp2 HG02055.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.2992-1771G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098770 | |||||||
chr12:88098777 | GCTCC | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-1782_2992-177 others(8): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098777 | |||||||
chr12:88098782 | A | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-1783T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098782 | |||||||
chr12:88098873 | C | T | 3 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 |
3 | HG02486.hp2 HG03209.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2992-1874G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098873 | |||||||
chr12:88098963 | T | G | 2 | a0001c0001t0001g0165 a0001c0001t0001g0179 |
2 | HG00735.hp2 HG00741.hp2 |
intron_variant | MODIFIER | c.2992-1964A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098963 | |||||||
chr12:88098994 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2992-1995G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88098994 | |||||||
chr12:88099173 | G | A | 1 | a0001c0003t0001g0057 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2992-2174C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099173 | |||||||
chr12:88099471 | A | G | 1 | a0001c0001t0001g0167 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2992-2472T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099471 | |||||||
chr12:88099540 | T | C | 1 | a0001c0018t0001g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2992-2541A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099540 | |||||||
chr12:88099833 | C | G | 1 | a0001c0001t0001g0166 | 1 | NA19089.hp2 | intron_variant | MODIFIER | c.2992-2834G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88099833 | |||||||
chr12:88100035 | T | C | 1 | a0001c0001t0001g0100 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2991+2803A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100035 | |||||||
chr12:88100197 | G | C | 5 | a0001c0001t0001g0143 a0001c0001t0001g0180 a0001c0001t0001g0181 others(2): Show |
5 | HG02155.hp2 NA18948.hp1 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.2991+2641C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100197 | |||||||
chr12:88100317 | A | G | 9 | a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0156 others(6): Show |
9 | HG01099.hp1 HG02004.hp1 HG02273.hp1 others(6): Show |
intron_variant | MODIFIER | c.2991+2521T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100317 | |||||||
chr12:88100711 | A | T | 2 | a0001c0003t0001g0049 a0001c0003t0001g0055 |
2 | HG01891.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.2991+2127T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100711 | |||||||
chr12:88100747 | G | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2991+2091C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100747 | |||||||
chr12:88100803 | A | T | 1 | a0005c0006t0001g0068 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.2991+2035T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100803 | |||||||
chr12:88100941 | C | T | 74 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(71): Show |
79 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.2991+1897G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88100941 | |||||||
chr12:88101248 | G | A | 1 | a0001c0001t0001g0031 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2991+1590C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101248 | |||||||
chr12:88101480 | C | CA | 28 | a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0135 others(25): Show |
29 | HG00597.hp1 HG00642.hp2 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.2991+1357dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101480 | |||||||
chr12:88101480 | CA | C | 6 | a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0001t0001g0165 others(3): Show |
6 | HG00741.hp2 HG01081.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.2991+1357delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101480 | |||||||
chr12:88101480 | CAA | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2991+1356_2991+135 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101480 | |||||||
chr12:88101513 | G | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2991+1325C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101513 | |||||||
chr12:88101615 | G | A | 1 | a0005c0006t0001g0065 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2991+1223C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101615 | |||||||
chr12:88101658 | CA | C | 198 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(195): Show |
218 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(215): Show |
intron_variant | MODIFIER | c.2991+1179delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101658 | |||||||
chr12:88101658 | CAA | C | 8 | a0001c0001t0001g0164 a0001c0017t0001g0016 a0001c0018t0001g0017 others(5): Show |
8 | HG00639.hp1 HG01884.hp1 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.2991+1178_2991+117 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101658 | |||||||
chr12:88101681 | T | C | 3 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 |
3 | HG02486.hp1 HG02818.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2991+1157A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88101681 | |||||||
chr12:88102129 | C | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2991+709G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102129 | |||||||
chr12:88102203 | G | C | 1 | a0001c0018t0001g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2991+635C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102203 | |||||||
chr12:88102247 | T | A | 1 | a0001c0001t0001g0184 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2991+591A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102247 | |||||||
chr12:88102397 | A | C | 1 | a0001c0001t0001g0135 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.2991+441T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102397 | |||||||
chr12:88102630 | T | C | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.2991+208A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102630 | |||||||
chr12:88102633 | A | G | 30 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(27): Show |
33 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.2991+205T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102633 | |||||||
chr12:88102641 | TTG | T | 175 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(172): Show |
191 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(188): Show |
intron_variant | MODIFIER | c.2991+195_2991+196d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 26/53 | chr12 | 88102641 | |||||||
chr12:88103061 | C | G | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2818-50G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103061 | |||||||
chr12:88103238 | TC | T | 9 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(6): Show |
9 | HG02155.hp1 HG06807.hp1 NA18612.hp2 others(6): Show |
intron_variant | MODIFIER | c.2818-228delG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103238 | |||||||
chr12:88103550 | G | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2818-539C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103550 | |||||||
chr12:88103673 | A | G | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2818-662T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103673 | |||||||
chr12:88103742 | TA | T | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.2818-732delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103742 | |||||||
chr12:88103754 | C | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2818-743G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103754 | |||||||
chr12:88103783 | C | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2818-772G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103783 | |||||||
chr12:88103786 | T | C | 1 | a0001c0003t0002g0074 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2818-775A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103786 | |||||||
chr12:88103897 | G | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2818-886C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88103897 | |||||||
chr12:88104057 | AT | A | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.2818-1047delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104057 | |||||||
chr12:88104059 | A | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.2818-1048T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104059 | |||||||
chr12:88104129 | T | C | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.2818-1118A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104129 | |||||||
chr12:88104134 | G | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2818-1123C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104134 | |||||||
chr12:88104584 | C | T | 2 | a0001c0001t0001g0007 a0001c0001t0001g0093 |
3 | HG02109.hp2 HG02559.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.2818-1573G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104584 | |||||||
chr12:88104623 | T | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2818-1612A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104623 | |||||||
chr12:88104633 | G | A | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2818-1622C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104633 | |||||||
chr12:88104919 | G | C | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2817+1756C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88104919 | |||||||
chr12:88105016 | G | C | 1 | a0001c0001t0001g0148 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2817+1659C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105016 | |||||||
chr12:88105176 | C | G | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2817+1499G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105176 | |||||||
chr12:88105311 | T | C | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2817+1364A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105311 | |||||||
chr12:88105371 | C | CA | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2817+1303dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105371 | |||||||
chr12:88105546 | A | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2817+1129T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105546 | |||||||
chr12:88105616 | C | T | 1 | a0001c0001t0001g0208 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2817+1059G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105616 | |||||||
chr12:88105681 | T | G | 1 | a0004c0005t0002g0035 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2817+994A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105681 | |||||||
chr12:88105720 | T | TTTC | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2817+952_2817+954d others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105720 | |||||||
chr12:88105846 | C | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2817+829G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105846 | |||||||
chr12:88105891 | G | A | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.2817+784C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105891 | |||||||
chr12:88105930 | A | C | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.2817+745T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105930 | |||||||
chr12:88105933 | A | C | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2817+742T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88105933 | |||||||
chr12:88106164 | C | T | 1 | a0001c0001t0001g0141 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2817+511G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88106164 | |||||||
chr12:88106627 | T | C | 5 | a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0039 others(2): Show |
5 | HG02451.hp1 HG02647.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.2817+48A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 25/53 | chr12 | 88106627 | |||||||
chr12:88107404 | A | AATAATAA others(10): Show |
1 | a0001c0003t0001g0058 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2484-307_2484-306i others(19): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107404 | |||||||
chr12:88107611 | C | CA | 5 | a0001c0001t0001g0140 a0001c0001t0001g0189 a0001c0001t0001g0196 others(2): Show |
5 | HG01109.hp2 HG01981.hp2 HG02080.hp2 others(2): Show |
intron_variant | MODIFIER | c.2484-514dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107611 | |||||||
chr12:88107695 | A | G | 164 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(161): Show |
180 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(177): Show |
intron_variant | MODIFIER | c.2484-597T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107695 | |||||||
chr12:88107879 | G | A | 3 | a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0151 |
3 | HG02145.hp2 HG02717.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2484-781C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107879 | |||||||
chr12:88107905 | G | GA | 7 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0004c0005t0002g0036 others(4): Show |
7 | HG01884.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.2484-808dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107905 | |||||||
chr12:88107939 | T | C | 4 | a0003c0004t0001g0001 a0003c0004t0001g0043 a0003c0004t0001g0044 others(1): Show |
7 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.2484-841A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88107939 | |||||||
chr12:88108011 | T | C | 1 | a0001c0001t0001g0190 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2484-913A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88108011 | |||||||
chr12:88108017 | T | C | 1 | a0001c0001t0001g0185 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2484-919A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88108017 | |||||||
chr12:88108840 | C | T | 13 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(10): Show |
16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.2483+226G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88108840 | |||||||
chr12:88109003 | G | A | 1 | a0001c0001t0001g0152 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2483+63C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 23/53 | chr12 | 88109003 | |||||||
chr12:88109189 | G | A | 1 | a0001c0003t0001g0085 | 1 | NA19240.hp1 | splice_region_variant&intron_variant | LOW | c.2368-8C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109189 | |||||||
chr12:88109218 | A | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.2368-37T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109218 | |||||||
chr12:88109235 | C | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.2368-54G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109235 | |||||||
chr12:88109260 | T | C | 1 | a0001c0001t0001g0100 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2368-79A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109260 | |||||||
chr12:88109619 | T | C | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2368-438A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109619 | |||||||
chr12:88109690 | C | T | 6 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2368-509G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109690 | |||||||
chr12:88109705 | G | A | 1 | a0001c0001t0001g0159 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.2368-524C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109705 | |||||||
chr12:88109827 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2368-646A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109827 | |||||||
chr12:88109894 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2368-713C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109894 | |||||||
chr12:88109973 | C | T | 197 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(194): Show |
216 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(213): Show |
intron_variant | MODIFIER | c.2368-792G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88109973 | |||||||
chr12:88110013 | C | A | 1 | a0004c0005t0002g0037 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2368-832G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110013 | |||||||
chr12:88110199 | T | C | 1 | a0001c0001t0001g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.2367+1003A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110199 | |||||||
chr12:88110483 | G | A | 74 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(71): Show |
79 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(76): Show |
intron_variant | MODIFIER | c.2367+719C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110483 | |||||||
chr12:88110531 | C | T | 1 | a0015c0025t0001g0107 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2367+671G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110531 | |||||||
chr12:88110634 | A | G | 10 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(7): Show |
12 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2367+568T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110634 | |||||||
chr12:88110638 | G | C | 1 | a0001c0001t0001g0103 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2367+564C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88110638 | |||||||
chr12:88111139 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.2367+63G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 22/53 | chr12 | 88111139 | |||||||
chr12:88111559 | T | A | 30 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(27): Show |
32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2217+135A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 21/53 | chr12 | 88111559 | |||||||
chr12:88112211 | T | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2053-353A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88112211 | |||||||
chr12:88112525 | G | A | 13 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(10): Show |
16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.2053-667C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88112525 | |||||||
chr12:88113023 | C | T | 1 | a0001c0001t0001g0142 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2053-1165G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113023 | |||||||
chr12:88113314 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2052+1106A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113314 | |||||||
chr12:88113616 | C | T | 5 | a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 others(2): Show |
5 | HG02145.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.2052+804G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113616 | |||||||
chr12:88113628 | T | C | 1 | a0001c0003t0001g0052 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2052+792A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113628 | |||||||
chr12:88113705 | T | G | 1 | a0001c0003t0001g0076 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.2052+715A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113705 | |||||||
chr12:88113955 | C | T | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.2052+465G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113955 | |||||||
chr12:88113977 | T | C | 1 | a0001c0003t0003g0015 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2052+443A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88113977 | |||||||
chr12:88114041 | T | G | 1 | a0002c0002t0001g0212 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2052+379A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114041 | |||||||
chr12:88114059 | C | T | 2 | a0001c0003t0001g0075 a0001c0003t0001g0076 |
2 | HG02486.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.2052+361G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114059 | |||||||
chr12:88114140 | G | A | 1 | a0001c0003t0001g0058 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2052+280C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114140 | |||||||
chr12:88114152 | T | C | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2052+268A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114152 | |||||||
chr12:88114227 | G | A | 1 | a0001c0018t0001g0017 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2052+193C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114227 | |||||||
chr12:88114389 | GA | G | 13 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(10): Show |
16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.2052+30delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 20/53 | chr12 | 88114389 | |||||||
chr12:88114769 | C | T | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1910-207G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 19/53 | chr12 | 88114769 | |||||||
chr12:88114919 | C | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1909+179G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 19/53 | chr12 | 88114919 | |||||||
chr12:88115193 | CAG | C | 2 | a0002c0002t0001g0120 a0002c0002t0001g0121 |
2 | HG00741.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.1825-13_1825-12del others(2): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88115193 | |||||||
chr12:88115347 | C | T | 1 | a0003c0004t0001g0041 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1825-165G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88115347 | |||||||
chr12:88115550 | T | C | 1 | a0001c0020t0001g0053 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1825-368A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88115550 | |||||||
chr12:88116128 | T | C | 1 | a0001c0001t0001g0133 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1824+905A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116128 | |||||||
chr12:88116540 | T | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1824+493A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116540 | |||||||
chr12:88116665 | A | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.1824+368T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116665 | |||||||
chr12:88116750 | G | C | 1 | a0002c0002t0001g0138 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1824+283C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116750 | |||||||
chr12:88116756 | C | T | 1 | a0001c0001t0001g0147 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1824+277G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116756 | |||||||
chr12:88116757 | G | A | 1 | a0001c0003t0001g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1824+276C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116757 | |||||||
chr12:88116846 | C | T | 1 | a0001c0017t0001g0016 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1824+187G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116846 | |||||||
chr12:88116891 | A | G | 1 | a0001c0001t0001g0205 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1824+142T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116891 | |||||||
chr12:88116952 | A | C | 36 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(33): Show |
38 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(35): Show |
intron_variant | MODIFIER | c.1824+81T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116952 | |||||||
chr12:88116961 | G | A | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1824+72C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116961 | |||||||
chr12:88116993 | A | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1824+40T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 18/53 | chr12 | 88116993 | |||||||
chr12:88117273 | C | T | 1 | a0001c0008t0001g0161 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1712-128G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117273 | |||||||
chr12:88117282 | A | G | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1712-137T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117282 | |||||||
chr12:88117601 | T | C | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.1712-456A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117601 | |||||||
chr12:88117908 | C | T | 6 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(3): Show |
9 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.1711+575G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88117908 | |||||||
chr12:88118117 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.1711+366C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 17/53 | chr12 | 88118117 | |||||||
chr12:88118575 | A | G | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.1624-5T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 16/53 | chr12 | 88118575 | |||||||
chr12:88118905 | C | T | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1523-162G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88118905 | |||||||
chr12:88119002 | T | C | 1 | a0007c0011t0001g0019 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1523-259A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119002 | |||||||
chr12:88119062 | TGGCTGTG others(25): Show |
T | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1523-351_1523-320d others(34): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119062 | |||||||
chr12:88119186 | T | A | 1 | a0017c0026t0001g0091 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.1523-443A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119186 | |||||||
chr12:88119498 | T | C | 1 | a0001c0003t0001g0061 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1522+616A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119498 | |||||||
chr12:88119526 | C | T | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1522+588G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119526 | |||||||
chr12:88119568 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1522+546C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119568 | |||||||
chr12:88119628 | A | T | 1 | a0006c0007t0001g0125 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1522+486T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119628 | |||||||
chr12:88119785 | A | G | 30 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(27): Show |
33 | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(30): Show |
intron_variant | MODIFIER | c.1522+329T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88119785 | |||||||
chr12:88120055 | TA | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1522+58delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 15/53 | chr12 | 88120055 | |||||||
chr12:88120341 | T | A | 19 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show |
21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.1360-65A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120341 | |||||||
chr12:88120414 | T | C | 1 | a0001c0003t0001g0058 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1360-138A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120414 | |||||||
chr12:88120524 | TAA | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1360-250_1360-249d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120524 | |||||||
chr12:88120560 | A | G | 1 | a0001c0001t0001g0104 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1360-284T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120560 | |||||||
chr12:88120645 | G | A | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1359+352C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 14/53 | chr12 | 88120645 | |||||||
chr12:88121382 | T | C | 1 | a0001c0020t0001g0053 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1190-216A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121382 | |||||||
chr12:88121495 | A | G | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1190-329T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121495 | |||||||
chr12:88121510 | C | T | 2 | a0001c0001t0001g0207 a0001c0001t0001g0208 |
2 | HG02486.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1190-344G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121510 | |||||||
chr12:88121613 | CA | C | 119 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(116): Show |
130 | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(127): Show |
intron_variant | MODIFIER | c.1190-448delT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121613 | |||||||
chr12:88121613 | CAA | C | 29 | a0001c0001t0001g0129 a0001c0001t0001g0193 a0001c0003t0001g0075 others(26): Show |
31 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(28): Show |
intron_variant | MODIFIER | c.1190-449_1190-448d others(4): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121613 | |||||||
chr12:88121631 | T | A | 1 | a0001c0001t0001g0133 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1190-465A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88121631 | |||||||
chr12:88122085 | G | A | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.1190-919C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122085 | |||||||
chr12:88122165 | G | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.1190-999C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122165 | |||||||
chr12:88122672 | A | G | 2 | a0001c0001t0001g0160 a0001c0001t0001g0195 |
2 | HG01175.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1190-1506T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122672 | |||||||
chr12:88122705 | G | A | 18 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(15): Show |
18 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(15): Show |
intron_variant | MODIFIER | c.1190-1539C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122705 | |||||||
chr12:88122740 | G | T | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.1190-1574C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122740 | |||||||
chr12:88122784 | C | T | 1 | a0005c0006t0001g0065 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1190-1618G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122784 | |||||||
chr12:88122810 | G | A | 1 | a0001c0001t0001g0101 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.1190-1644C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122810 | |||||||
chr12:88122832 | C | G | 19 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(16): Show |
22 | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
intron_variant | MODIFIER | c.1190-1666G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88122832 | |||||||
chr12:88123044 | G | A | 136 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(133): Show |
150 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(147): Show |
intron_variant | MODIFIER | c.1190-1878C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123044 | |||||||
chr12:88123219 | T | C | 4 | a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 others(1): Show |
4 | HG03209.hp1 HG03540.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.1189+2027A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123219 | |||||||
chr12:88123390 | C | T | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.1189+1856G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123390 | |||||||
chr12:88123504 | C | G | 14 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(11): Show |
16 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.1189+1742G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123504 | |||||||
chr12:88123587 | T | C | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.1189+1659A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123587 | |||||||
chr12:88123843 | T | C | 3 | a0005c0006t0001g0072 a0005c0006t0001g0073 a0006c0007t0001g0122 |
3 | HG01175.hp2 HG01255.hp1 HG02145.hp1 |
intron_variant | MODIFIER | c.1189+1403A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88123843 | |||||||
chr12:88124060 | T | C | 1 | a0001c0001t0001g0190 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1189+1186A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124060 | |||||||
chr12:88124329 | C | T | 7 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(4): Show |
7 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1189+917G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124329 | |||||||
chr12:88124486 | A | G | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1189+760T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124486 | |||||||
chr12:88124494 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1189+752C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124494 | |||||||
chr12:88124501 | G | A | 1 | a0001c0001t0001g0192 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1189+745C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124501 | |||||||
chr12:88124569 | T | C | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.1189+677A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124569 | |||||||
chr12:88124602 | TGAA | T | 8 | a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0156 others(5): Show |
8 | HG01099.hp1 HG02004.hp1 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.1189+641_1189+643d others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124602 | |||||||
chr12:88124897 | C | T | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1189+349G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124897 | |||||||
chr12:88124989 | T | G | 19 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show |
21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.1189+257A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88124989 | |||||||
chr12:88125155 | A | G | 6 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(3): Show |
9 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.1189+91T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88125155 | |||||||
chr12:88125196 | T | C | 1 | a0002c0002t0001g0123 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1189+50A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 13/53 | chr12 | 88125196 | |||||||
chr12:88125569 | T | C | 12 | a0006c0007t0001g0087 a0006c0007t0001g0088 a0006c0007t0001g0090 others(9): Show |
12 | HG00609.hp1 HG01106.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.1066-200A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125569 | |||||||
chr12:88125624 | A | G | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.1066-255T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125624 | |||||||
chr12:88125748 | T | G | 1 | a0001c0001t0001g0106 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1066-379A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125748 | |||||||
chr12:88125757 | T | C | 1 | a0002c0002t0001g0212 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1066-388A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125757 | |||||||
chr12:88125768 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1066-399C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125768 | |||||||
chr12:88125833 | T | C | 12 | a0006c0007t0001g0087 a0006c0007t0001g0088 a0006c0007t0001g0090 others(9): Show |
12 | HG00609.hp1 HG01106.hp2 HG02004.hp2 others(9): Show |
intron_variant | MODIFIER | c.1066-464A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125833 | |||||||
chr12:88125862 | C | A | 1 | a0003c0004t0001g0041 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1065+454G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 12/53 | chr12 | 88125862 | |||||||
chr12:88126606 | T | C | 1 | a0009c0012t0001g0054 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.943-168A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88126606 | |||||||
chr12:88126651 | C | T | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.943-213G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88126651 | |||||||
chr12:88126995 | G | A | 2 | a0001c0001t0001g0143 a0001c0001t0001g0202 |
2 | HG02155.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.943-557C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88126995 | |||||||
chr12:88127041 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.943-603A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127041 | |||||||
chr12:88127043 | CACAAATT others(3): Show |
C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.943-615_943-606del others(10): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127043 | |||||||
chr12:88127094 | A | AAAAGAGA others(62): Show |
180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.943-657_943-656ins others(69): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127094 | |||||||
chr12:88127146 | A | C | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.943-708T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127146 | |||||||
chr12:88127189 | G | A | 6 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(3): Show |
9 | HG02630.hp2 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.943-751C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127189 | |||||||
chr12:88127206 | A | G | 1 | a0001c0001t0001g0153 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.943-768T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127206 | |||||||
chr12:88127242 | C | G | 5 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(2): Show |
5 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.943-804G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127242 | |||||||
chr12:88127354 | G | A | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.943-916C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127354 | |||||||
chr12:88127386 | G | A | 1 | a0005c0006t0001g0063 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.943-948C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127386 | |||||||
chr12:88127593 | T | A | 1 | a0001c0001t0001g0193 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.943-1155A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127593 | |||||||
chr12:88127897 | C | T | 5 | a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 others(2): Show |
5 | HG02145.hp2 HG02615.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.942+1049G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127897 | |||||||
chr12:88127925 | T | G | 1 | a0001c0001t0001g0194 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.942+1021A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88127925 | |||||||
chr12:88128081 | G | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.942+865C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128081 | |||||||
chr12:88128108 | G | A | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.942+838C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128108 | |||||||
chr12:88128130 | T | C | 1 | a0001c0001t0001g0195 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.942+816A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128130 | |||||||
chr12:88128162 | C | G | 1 | a0006c0007t0001g0088 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.942+784G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128162 | |||||||
chr12:88128372 | T | C | 1 | a0001c0003t0001g0055 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.942+574A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128372 | |||||||
chr12:88128675 | T | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(141): Show |
158 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(155): Show |
intron_variant | MODIFIER | c.942+271A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128675 | |||||||
chr12:88128918 | A | G | 8 | a0004c0005t0002g0003 a0004c0005t0002g0028 a0004c0005t0002g0029 others(5): Show |
10 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.942+28T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 11/53 | chr12 | 88128918 | |||||||
chr12:88129046 | A | AC | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.853-12_853-11insG | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129046 | |||||||
chr12:88129159 | C | CTTA | 193 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(190): Show |
212 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(209): Show |
intron_variant | MODIFIER | c.853-127_853-125dup others(3): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129159 | |||||||
chr12:88129177 | C | T | 1 | a0005c0006t0001g0064 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.853-142G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129177 | |||||||
chr12:88129232 | G | C | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.853-197C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129232 | |||||||
chr12:88129311 | T | C | 1 | a0001c0003t0001g0047 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.853-276A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129311 | |||||||
chr12:88129370 | C | T | 198 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(195): Show |
217 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(214): Show |
intron_variant | MODIFIER | c.852+324G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129370 | |||||||
chr12:88129470 | A | C | 1 | a0001c0001t0001g0150 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.852+224T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129470 | |||||||
chr12:88129502 | T | C | 1 | a0009c0012t0001g0056 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.852+192A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129502 | |||||||
chr12:88129621 | T | C | 11 | a0004c0005t0002g0003 a0004c0005t0002g0022 a0004c0005t0002g0028 others(8): Show |
13 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.852+73A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129621 | |||||||
chr12:88129661 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.852+33C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 10/53 | chr12 | 88129661 | |||||||
chr12:88129992 | T | C | 27 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0002c0002t0001g0004 others(24): Show |
33 | HG00741.hp1 HG01074.hp1 HG01081.hp2 others(30): Show |
intron_variant | MODIFIER | c.670-116A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88129992 | |||||||
chr12:88130101 | C | T | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.669+167G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88130101 | |||||||
chr12:88130200 | T | C | 1 | a0001c0001t0001g0208 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.669+68A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88130200 | |||||||
chr12:88130248 | T | C | 1 | a0002c0002t0001g0198 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.669+20A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 9/53 | chr12 | 88130248 | |||||||
chr12:88130475 | C | T | 1 | a0004c0005t0002g0032 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.517-55G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 8/53 | chr12 | 88130475 | |||||||
chr12:88130671 | T | C | 2 | a0003c0004t0001g0044 a0003c0004t0001g0045 |
2 | HG02630.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.496-106A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130671 | |||||||
chr12:88130683 | T | G | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.496-118A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130683 | |||||||
chr12:88130726 | A | G | 1 | a0005c0006t0001g0063 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.496-161T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130726 | |||||||
chr12:88130760 | T | C | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.496-195A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130760 | |||||||
chr12:88130834 | C | A | 30 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(27): Show |
32 | HG01109.hp1 HG01175.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.496-269G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88130834 | |||||||
chr12:88131090 | T | C | 1 | a0001c0001t0001g0124 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.495+75A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 7/53 | chr12 | 88131090 | |||||||
chr12:88131228 | T | TA | 16 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0017t0001g0016 others(13): Show |
16 | HG00609.hp1 HG01884.hp1 HG02080.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-11dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131228 | |||||||
chr12:88131237 | A | T | 19 | a0001c0001t0001g0128 a0001c0003t0001g0075 a0001c0003t0001g0076 others(16): Show |
19 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(16): Show |
intron_variant | MODIFIER | c.442-19T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131237 | |||||||
chr12:88131271 | AT | A | 172 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(169): Show |
188 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(185): Show |
intron_variant | MODIFIER | c.442-54delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131271 | |||||||
chr12:88131303 | G | A | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-85C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131303 | |||||||
chr12:88131404 | T | C | 1 | a0001c0008t0001g0200 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.442-186A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131404 | |||||||
chr12:88131452 | G | A | 2 | a0007c0011t0001g0020 a0013c0021t0001g0021 |
2 | HG02647.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.442-234C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131452 | |||||||
chr12:88131468 | A | G | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-250T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131468 | |||||||
chr12:88131812 | C | T | 3 | a0008c0010t0001g0024 a0008c0010t0001g0025 a0008c0010t0001g0026 |
3 | HG02257.hp2 HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.442-594G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131812 | |||||||
chr12:88131967 | G | A | 1 | a0003c0004t0001g0084 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.442-749C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88131967 | |||||||
chr12:88132267 | G | C | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1049C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88132267 | |||||||
chr12:88132285 | G | A | 8 | a0004c0005t0002g0003 a0004c0005t0002g0028 a0004c0005t0002g0029 others(5): Show |
10 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-1067C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88132285 | |||||||
chr12:88132829 | C | G | 1 | a0001c0001t0001g0149 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.442-1611G>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88132829 | |||||||
chr12:88133001 | G | C | 1 | a0001c0003t0001g0057 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.442-1783C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133001 | |||||||
chr12:88133035 | C | T | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.442-1817G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133035 | |||||||
chr12:88133069 | C | T | 2 | a0004c0005t0002g0022 a0004c0005t0004g0214 |
2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.442-1851G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133069 | |||||||
chr12:88133072 | G | GT | 10 | a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 others(7): Show |
11 | HG01243.hp1 HG01243.hp2 HG01891.hp2 others(8): Show |
intron_variant | MODIFIER | c.442-1855dupA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | |||||||
chr12:88133072 | G | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-1854C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | |||||||
chr12:88133072 | GT | G | 8 | a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 others(5): Show |
8 | HG01099.hp1 HG02257.hp2 HG02683.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-1855delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | |||||||
chr12:88133072 | GTTTTTTT others(1): Show |
G | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.442-1862_442-1855d others(10): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133072 | |||||||
chr12:88133108 | T | C | 198 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(195): Show |
217 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(214): Show |
intron_variant | MODIFIER | c.442-1890A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133108 | |||||||
chr12:88133138 | C | T | 1 | a0003c0004t0001g0041 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.442-1920G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133138 | |||||||
chr12:88133306 | T | G | 1 | a0001c0003t0001g0047 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.442-2088A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133306 | |||||||
chr12:88133378 | C | T | 1 | a0008c0010t0001g0024 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.442-2160G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133378 | |||||||
chr12:88133403 | T | C | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.442-2185A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133403 | |||||||
chr12:88133625 | G | A | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-2407C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88133625 | |||||||
chr12:88134208 | T | C | 2 | a0001c0001t0001g0203 a0001c0001t0001g0204 |
2 | HG03239.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.441+2435A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134208 | |||||||
chr12:88134216 | T | C | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.441+2427A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134216 | |||||||
chr12:88134576 | T | C | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.441+2067A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134576 | |||||||
chr12:88134652 | C | T | 13 | a0003c0004t0001g0001 a0003c0004t0001g0041 a0003c0004t0001g0042 others(10): Show |
16 | HG02280.hp1 HG02615.hp2 HG02630.hp2 others(13): Show |
intron_variant | MODIFIER | c.441+1991G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134652 | |||||||
chr12:88134658 | C | T | 1 | a0001c0003t0001g0047 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.441+1985G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88134658 | |||||||
chr12:88135239 | T | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.441+1404A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135239 | |||||||
chr12:88135349 | A | AC | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.441+1293_441+1294i others(3): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135349 | |||||||
chr12:88135350 | A | G | 12 | a0005c0006t0001g0063 a0005c0006t0001g0064 a0005c0006t0001g0065 others(9): Show |
12 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.441+1293T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135350 | |||||||
chr12:88135529 | G | A | 19 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show |
21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.441+1114C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135529 | |||||||
chr12:88135546 | C | T | 2 | a0001c0001t0001g0144 a0001c0001t0001g0145 |
2 | NA19058.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.441+1097G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135546 | |||||||
chr12:88135550 | C | T | 1 | a0007c0011t0001g0018 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.441+1093G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135550 | |||||||
chr12:88135665 | C | T | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.441+978G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88135665 | |||||||
chr12:88136197 | A | G | 1 | a0005c0015t0001g0062 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.441+446T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88136197 | |||||||
chr12:88136267 | A | C | 1 | a0001c0003t0002g0074 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.441+376T>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 6/53 | chr12 | 88136267 | |||||||
chr12:88136830 | T | C | 1 | a0001c0001t0001g0205 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.298-44A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88136830 | |||||||
chr12:88136870 | T | C | 1 | a0005c0006t0001g0073 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.298-84A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88136870 | |||||||
chr12:88136929 | CT | C | 24 | a0001c0001t0001g0011 a0001c0001t0001g0128 a0001c0001t0001g0129 others(21): Show |
25 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(22): Show |
intron_variant | MODIFIER | c.298-144delA | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88136929 | |||||||
chr12:88137066 | C | T | 1 | a0001c0001t0001g0141 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.298-280G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137066 | |||||||
chr12:88137087 | G | A | 5 | a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0039 others(2): Show |
5 | HG02451.hp1 HG02647.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.298-301C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137087 | |||||||
chr12:88137282 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.298-496G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137282 | |||||||
chr12:88137414 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.298-628G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137414 | |||||||
chr12:88137430 | G | A | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.298-644C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137430 | |||||||
chr12:88137447 | C | T | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.298-661G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137447 | |||||||
chr12:88137459 | T | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.298-673A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137459 | |||||||
chr12:88137660 | C | A | 1 | a0001c0001t0001g0209 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.298-874G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137660 | |||||||
chr12:88137694 | C | T | 16 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0213 others(13): Show |
16 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(13): Show |
intron_variant | MODIFIER | c.298-908G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137694 | |||||||
chr12:88137738 | A | G | 1 | a0001c0001t0001g0027 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.298-952T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137738 | |||||||
chr12:88137786 | G | A | 6 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0002c0002t0001g0012 others(3): Show |
7 | NA18957.hp2 NA18975.hp2 NA18982.hp1 others(4): Show |
intron_variant | MODIFIER | c.298-1000C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137786 | |||||||
chr12:88137805 | G | C | 19 | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 others(16): Show |
21 | HG01109.hp1 HG01192.hp2 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.298-1019C>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137805 | |||||||
chr12:88137939 | C | T | 193 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(190): Show |
212 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(209): Show |
intron_variant | MODIFIER | c.298-1153G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137939 | |||||||
chr12:88137953 | G | T | 4 | a0007c0011t0001g0018 a0007c0011t0001g0019 a0007c0011t0001g0020 others(1): Show |
4 | HG01884.hp1 HG02647.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.298-1167C>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88137953 | |||||||
chr12:88138161 | T | C | 1 | a0001c0003t0001g0061 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.297+984A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138161 | |||||||
chr12:88138269 | C | T | 4 | a0006c0007t0001g0088 a0006c0007t0001g0090 a0012c0016t0001g0089 others(1): Show |
4 | HG00609.hp1 HG02080.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.297+876G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138269 | |||||||
chr12:88138292 | A | G | 1 | a0001c0001t0001g0023 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.297+853T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138292 | |||||||
chr12:88138640 | C | T | 180 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(177): Show |
196 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(193): Show |
intron_variant | MODIFIER | c.297+505G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138640 | |||||||
chr12:88138785 | C | T | 2 | a0001c0017t0001g0016 a0001c0018t0001g0017 |
2 | HG02559.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.297+360G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138785 | |||||||
chr12:88138831 | A | G | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.297+314T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88138831 | |||||||
chr12:88139014 | A | G | 2 | a0004c0005t0002g0022 a0004c0005t0004g0214 |
2 | HG03579.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.297+131T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88139014 | |||||||
chr12:88139109 | T | C | 15 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 others(12): Show |
15 | HG01175.hp2 HG01255.hp1 HG02155.hp1 others(12): Show |
intron_variant | MODIFIER | c.297+36A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 5/53 | chr12 | 88139109 | |||||||
chr12:88139201 | T | A | 3 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 |
3 | HG02486.hp1 HG02818.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.251-10A>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4/53 | chr12 | 88139201 | |||||||
chr12:88139202 | A | T | 1 | a0001c0001t0001g0142 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.251-11T>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4/53 | chr12 | 88139202 | |||||||
chr12:88139284 | T | C | 3 | a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0002g0074 |
3 | HG02486.hp2 HG03209.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.251-93A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 4/53 | chr12 | 88139284 | |||||||
chr12:88139813 | C | T | 6 | a0001c0017t0001g0016 a0001c0018t0001g0017 a0007c0011t0001g0018 others(3): Show |
6 | HG01884.hp1 HG02559.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.181-249G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88139813 | |||||||
chr12:88139816 | C | T | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.181-252G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88139816 | |||||||
chr12:88139852 | C | T | 1 | a0001c0001t0001g0141 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.181-288G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88139852 | |||||||
chr12:88140201 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.181-637G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140201 | |||||||
chr12:88140243 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.181-679C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140243 | |||||||
chr12:88140341 | T | C | 1 | a0001c0001t0001g0210 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.180+615A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140341 | |||||||
chr12:88140349 | C | T | 5 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(2): Show |
5 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.180+607G>A | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140349 | |||||||
chr12:88140669 | A | G | 1 | a0006c0007t0001g0087 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.180+287T>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140669 | |||||||
chr12:88140889 | T | C | 1 | a0002c0002t0001g0139 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.180+67A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 3/53 | chr12 | 88140889 | |||||||
chr12:88141390 | T | G | 7 | a0003c0004t0001g0078 a0003c0004t0001g0079 a0003c0004t0001g0080 others(4): Show |
7 | HG02280.hp1 HG02615.hp2 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.-27-56A>C | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141390 | |||||||
chr12:88141405 | T | C | 1 | a0001c0003t0001g0085 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.-27-71A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141405 | |||||||
chr12:88141521 | C | CA | 73 | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(70): Show |
78 | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(75): Show |
intron_variant | MODIFIER | c.-27-188dupT | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141521 | |||||||
chr12:88141758 | C | A | 1 | a0001c0019t0001g0086 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-28+142G>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141758 | |||||||
chr12:88141799 | G | A | 136 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(133): Show |
150 | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(147): Show |
intron_variant | MODIFIER | c.-28+101C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141799 | |||||||
chr12:88141810 | G | A | 1 | a0001c0001t0001g0211 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-28+90C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141810 | |||||||
chr12:88141820 | T | C | 1 | a0002c0002t0001g0212 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-28+80A>G | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141820 | |||||||
chr12:88141834 | G | A | 1 | a0001c0003t0001g0213 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-28+66C>T | CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 1/53 | chr12 | 88141834 |