Item | Value |
---|---|
geneid | 21 |
ensemblid | ENSG00000167972.14 |
hgncid | 33 |
symbol | ABCA3 |
name | ATP binding cassette subfamily A member 3 |
refseq_nuc | NM_001089.3 |
refseq_prot | NP_001080.2 |
ensembl_nuc | ENST00000301732.10 |
ensembl_prot | ENSP00000301732.5 |
mane_status | MANE Select |
chr | chr16 |
start | 2275881 |
end | 2340728 |
strand | - |
ver | v1.2 |
region | chr16:2275881-2340728 |
region5000 | chr16:2270881-2345728 |
regionname0 | ABCA3_chr16_2275881_2340728 |
regionname5000 | ABCA3_chr16_2270881_2345728 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 1704 | 240 | 72 | 51 | 72 | 10 | 33 | 44 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0002 | 0/0 | 1704 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0003 | 0/0 | 1704 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0004 | 0/0 | 1704 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0005 | 0/0 | 1704 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0006 | 0/0 | 1704 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0007 | 0/0 | 1704 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0008 | 0/0 | 1704 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0009 | 0/0 | 1704 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0010 | 0/0 | 1704 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0011 | 0/0 | 1704 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
a0012 | 0/0 | 1704 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | MAVLR others(1699): Show |
chr16 | 2270881 | 2345728 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 5112 | 132 | 37 | 22 | 47 | 6 | 20 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0002 | 0/0 | 5112 | 42 | 1 | 14 | 19 | 3 | 5 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0003 | 1/0 | 5112 | 23 | 17 | 3 | 0 | 0 | 2 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0004 | 0/1 | 5112 | 15 | 1 | 8 | 2 | 0 | 3 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0005 | 0/0 | 5112 | 7 | 7 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0006 | 0/0 | 5112 | 4 | 4 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0007 | 0/0 | 5112 | 3 | 0 | 2 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0008 | 0/0 | 5112 | 3 | 0 | 1 | 0 | 0 | 2 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0009 | 0/0 | 5112 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0011 | 0/0 | 5112 | 2 | 0 | 0 | 2 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0018 | 0/0 | 5112 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0019 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0020 | 0/0 | 5112 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0024 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0025 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0026 | 0/0 | 5112 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0001c0028 | 0/0 | 5112 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0002c0010 | 0/0 | 5112 | 2 | 0 | 0 | 0 | 2 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0003c0014 | 0/0 | 5112 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0004c0013 | 0/0 | 5112 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0005c0023 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0006c0012 | 0/0 | 5112 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0007c0022 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0008c0021 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0009c0016 | 0/0 | 5112 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0010c0027 | 0/0 | 5112 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0011c0017 | 0/0 | 5112 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 | ||
a0012c0015 | 0/0 | 5112 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | ATGGC others(5107): Show |
chr16 | 2270881 | 2345728 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 6602 | 84 | 9 | 14 | 37 | 4 | 20 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0002 | 0/0 | 6602 | 21 | 19 | 2 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0003 | 0/0 | 6602 | 15 | 0 | 5 | 9 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0004 | 0/0 | 6602 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0005 | 0/0 | 6602 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0007 | 0/0 | 6602 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0008 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0009 | 0/0 | 6602 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0010 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0013 | 0/0 | 6602 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0014 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0001t0015 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0002t0001 | 0/0 | 6602 | 33 | 1 | 10 | 15 | 2 | 5 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0002t0003 | 0/0 | 6602 | 8 | 0 | 3 | 4 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0002t0011 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0003t0001 | 1/0 | 6602 | 12 | 8 | 2 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0003t0002 | 0/0 | 6602 | 7 | 7 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0003t0003 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0003t0004 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0003t0008 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0003t0012 | 0/0 | 6602 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0004t0001 | 0/1 | 6602 | 15 | 1 | 8 | 2 | 0 | 3 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0005t0001 | 0/0 | 6602 | 5 | 5 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0005t0006 | 0/0 | 6602 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0006t0001 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0006t0004 | 0/0 | 6602 | 3 | 3 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0007t0001 | 0/0 | 6602 | 3 | 0 | 2 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0008t0001 | 0/0 | 6602 | 3 | 0 | 1 | 0 | 0 | 2 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0009t0001 | 0/0 | 6602 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0011t0001 | 0/0 | 6602 | 2 | 0 | 0 | 2 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0018t0001 | 0/0 | 6602 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0019t0002 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0020t0001 | 0/0 | 6602 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0024t0001 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0025t0001 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0026t0002 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0001c0028t0001 | 0/0 | 6602 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0002c0010t0001 | 0/0 | 6602 | 2 | 0 | 0 | 0 | 2 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0003c0014t0001 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0004c0013t0001 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0005c0023t0001 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0006c0012t0001 | 0/0 | 6602 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0007c0022t0002 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0008c0021t0002 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0009c0016t0001 | 0/0 | 6602 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0010c0027t0003 | 0/0 | 6602 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0011c0017t0001 | 0/0 | 6602 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
a0012c0015t0001 | 0/0 | 6602 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | AGTAG others(6597): Show |
chr16 | 2270881 | 2345728 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0002g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0026 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0003g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0004g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0004g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0005g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0005g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0007g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0008g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0009g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0010g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0013g0248 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0014g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0001t0015g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0001g0246 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0003g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0002t0011g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0105 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0002g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0003g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0004g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0008g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0003t0012g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0067 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0225 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0004t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0006g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0005t0006g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0006t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0006t0004g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0006t0004g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0006t0004g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0007t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0007t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0007t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0008t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0008t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0008t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0009t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0009t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0011t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0011t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0018t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0019t0002g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0020t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0024t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0025t0001g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0026t0002g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0001c0028t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0002c0010t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0002c0010t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0003c0014t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0004c0013t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0005c0023t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0006c0012t0001g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0007c0022t0002g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0008c0021t0002g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0009c0016t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0010c0027t0003g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0011c0017t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
a0012c0015t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0138 | EUR | GBR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0126 | EUR | GBR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00280 | hp1 | a0001 | c0002 | t0003 | g0031 | EUR | FIN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0239 | EUR | FIN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00323 | hp1 | a0001 | c0001 | t0003 | g0026 | EUR | FIN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00323 | hp2 | a0001 | c0007 | t0001 | g0140 | EUR | FIN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00408 | hp1 | a0001 | c0001 | t0003 | g0033 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00408 | hp2 | a0001 | c0028 | t0001 | g0134 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0095 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0122 | EAS | CHS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00639 | hp1 | a0001 | c0002 | t0011 | g0101 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00639 | hp2 | a0001 | c0026 | t0002 | g0208 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00642 | hp2 | a0001 | c0007 | t0001 | g0137 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00735 | hp1 | a0001 | c0004 | t0001 | g0120 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00735 | hp2 | a0001 | c0002 | t0001 | g0102 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00738 | hp1 | a0001 | c0001 | t0001 | g0243 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0064 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01070 | hp2 | a0001 | c0002 | t0003 | g0028 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01071 | hp1 | a0001 | c0001 | t0002 | g0193 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01071 | hp2 | a0001 | c0002 | t0003 | g0023 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01081 | hp1 | a0001 | c0001 | t0003 | g0030 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01081 | hp2 | a0001 | c0004 | t0001 | g0247 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0081 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01099 | hp2 | a0001 | c0007 | t0001 | g0174 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01106 | hp1 | a0001 | c0003 | t0003 | g0010 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01106 | hp2 | a0001 | c0008 | t0001 | g0139 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01109 | hp2 | a0001 | c0001 | t0001 | g0099 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01167 | hp2 | a0001 | c0004 | t0001 | g0170 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01169 | hp1 | a0001 | c0002 | t0001 | g0246 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01192 | hp1 | a0003 | c0014 | t0001 | g0098 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01192 | hp2 | a0001 | c0001 | t0003 | g0009 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01243 | hp1 | a0001 | c0004 | t0001 | g0080 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01243 | hp2 | a0001 | c0001 | t0002 | g0216 | AMR | PUR | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01255 | hp1 | a0004 | c0013 | t0001 | g0166 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01255 | hp2 | a0001 | c0002 | t0003 | g0016 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01258 | hp1 | a0001 | c0002 | t0001 | g0156 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0059 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0149 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01261 | hp2 | a0001 | c0003 | t0001 | g0148 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01433 | hp1 | a0001 | c0003 | t0001 | g0151 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01433 | hp2 | a0001 | c0004 | t0001 | g0106 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01496 | hp1 | a0001 | c0004 | t0001 | g0119 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0034 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01515 | hp1 | a0001 | c0002 | t0001 | g0245 | EUR | IBS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01515 | hp2 | a0001 | c0001 | t0013 | g0248 | EUR | IBS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0183 | EUR | IBS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01516 | hp2 | a0002 | c0010 | t0001 | g0155 | EUR | IBS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01517 | hp1 | a0001 | c0002 | t0001 | g0233 | EUR | IBS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01517 | hp2 | a0002 | c0010 | t0001 | g0150 | EUR | IBS | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01884 | hp1 | a0001 | c0009 | t0001 | g0047 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01884 | hp2 | a0001 | c0003 | t0002 | g0201 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01891 | hp1 | a0005 | c0023 | t0001 | g0044 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01891 | hp2 | a0001 | c0005 | t0001 | g0179 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01928 | hp1 | a0001 | c0002 | t0001 | g0086 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01928 | hp2 | a0001 | c0001 | t0003 | g0024 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01943 | hp1 | a0001 | c0002 | t0001 | g0125 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0035 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01952 | hp1 | a0001 | c0002 | t0001 | g0117 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01952 | hp2 | a0001 | c0001 | t0003 | g0032 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01978 | hp1 | a0001 | c0004 | t0001 | g0053 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01978 | hp2 | a0001 | c0002 | t0001 | g0050 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02015 | hp1 | a0001 | c0002 | t0001 | g0110 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02015 | hp2 | a0001 | c0002 | t0001 | g0063 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02040 | hp1 | a0001 | c0002 | t0001 | g0142 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02055 | hp1 | a0001 | c0003 | t0002 | g0205 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02055 | hp2 | a0001 | c0001 | t0002 | g0197 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02056 | hp1 | a0001 | c0002 | t0003 | g0022 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0073 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02132 | hp1 | a0001 | c0001 | t0003 | g0012 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02132 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02135 | hp1 | a0001 | c0002 | t0001 | g0060 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0130 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02148 | hp1 | a0001 | c0001 | t0015 | g0250 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02148 | hp2 | a0001 | c0002 | t0001 | g0061 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | CDX | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | CDX | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02257 | hp1 | a0001 | c0003 | t0008 | g0163 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02257 | hp2 | a0001 | c0001 | t0001 | g0167 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02258 | hp1 | a0001 | c0003 | t0002 | g0204 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02258 | hp2 | a0001 | c0005 | t0001 | g0042 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0069 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02273 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02280 | hp1 | a0001 | c0006 | t0004 | g0007 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02280 | hp2 | a0001 | c0001 | t0002 | g0222 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02300 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02300 | hp2 | a0006 | c0012 | t0001 | g0041 | AMR | PEL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02523 | hp1 | a0001 | c0001 | t0003 | g0013 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02523 | hp2 | a0001 | c0001 | t0003 | g0029 | EAS | KHV | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02572 | hp1 | a0001 | c0003 | t0001 | g0152 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02572 | hp2 | a0001 | c0001 | t0002 | g0206 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0154 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0241 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02615 | hp1 | a0001 | c0001 | t0010 | g0224 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0143 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0189 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02622 | hp2 | a0001 | c0003 | t0001 | g0226 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02647 | hp1 | a0001 | c0003 | t0001 | g0162 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0219 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02683 | hp1 | a0001 | c0004 | t0001 | g0169 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0237 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0084 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02698 | hp2 | a0001 | c0002 | t0001 | g0141 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02717 | hp1 | a0001 | c0001 | t0004 | g0008 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02723 | hp1 | a0001 | c0003 | t0001 | g0240 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02723 | hp2 | a0001 | c0005 | t0001 | g0180 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0171 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02735 | hp2 | a0001 | c0002 | t0001 | g0182 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02809 | hp1 | a0001 | c0005 | t0006 | g0038 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02809 | hp2 | a0001 | c0003 | t0002 | g0209 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02818 | hp1 | a0001 | c0024 | t0001 | g0164 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02818 | hp2 | a0001 | c0001 | t0002 | g0194 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02886 | hp1 | a0001 | c0001 | t0002 | g0211 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02886 | hp2 | a0001 | c0001 | t0002 | g0195 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02895 | hp1 | a0001 | c0001 | t0002 | g0217 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02895 | hp2 | a0001 | c0003 | t0002 | g0218 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02896 | hp1 | a0001 | c0001 | t0002 | g0220 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02896 | hp2 | a0001 | c0001 | t0005 | g0037 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02897 | hp1 | a0001 | c0003 | t0002 | g0190 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02897 | hp2 | a0001 | c0001 | t0002 | g0198 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02922 | hp1 | a0001 | c0001 | t0002 | g0212 | AFR | ESN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02922 | hp2 | a0001 | c0019 | t0002 | g0221 | AFR | ESN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03017 | hp1 | a0001 | c0008 | t0001 | g0175 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03017 | hp2 | a0001 | c0002 | t0001 | g0168 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03041 | hp1 | a0001 | c0001 | t0004 | g0006 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03041 | hp2 | a0001 | c0001 | t0007 | g0002 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03098 | hp1 | a0001 | c0005 | t0001 | g0048 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03098 | hp2 | a0001 | c0003 | t0002 | g0202 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03139 | hp1 | a0001 | c0001 | t0002 | g0214 | AFR | ESN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03139 | hp2 | a0001 | c0001 | t0002 | g0207 | AFR | ESN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03209 | hp1 | a0001 | c0001 | t0002 | g0192 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03209 | hp2 | a0007 | c0022 | t0002 | g0203 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03225 | hp1 | a0001 | c0001 | t0008 | g0178 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03225 | hp2 | a0001 | c0001 | t0002 | g0200 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03239 | hp1 | a0001 | c0008 | t0001 | g0173 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0172 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03453 | hp1 | a0001 | c0001 | t0007 | g0002 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03453 | hp2 | a0001 | c0006 | t0004 | g0004 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03486 | hp1 | a0001 | c0001 | t0002 | g0213 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03486 | hp2 | a0001 | c0006 | t0004 | g0005 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0177 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0121 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03516 | hp1 | a0001 | c0003 | t0001 | g0159 | AFR | ESN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03516 | hp2 | a0001 | c0009 | t0001 | g0049 | AFR | ESN | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03540 | hp1 | a0008 | c0021 | t0002 | g0210 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03540 | hp2 | a0001 | c0001 | t0002 | g0191 | AFR | GWD | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03579 | hp1 | a0001 | c0005 | t0001 | g0181 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03579 | hp2 | a0001 | c0003 | t0001 | g0227 | AFR | MSL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0062 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03654 | hp2 | a0001 | c0002 | t0001 | g0124 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03710 | hp1 | a0001 | c0018 | t0001 | g0097 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0066 | SAS | PJL | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0092 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0052 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03927 | hp1 | a0009 | c0016 | t0001 | g0111 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0242 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03942 | hp1 | a0001 | c0003 | t0012 | g0089 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0132 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0161 | SAS | STU | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04115 | hp2 | a0001 | c0004 | t0001 | g0118 | SAS | STU | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04184 | hp1 | a0001 | c0004 | t0001 | g0040 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0056 | SAS | BEB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04204 | hp1 | a0001 | c0003 | t0001 | g0157 | SAS | STU | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04204 | hp2 | a0001 | c0001 | t0001 | g0087 | SAS | STU | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0093 | SAS | STU | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0234 | SAS | STU | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18522 | hp1 | a0001 | c0001 | t0002 | g0196 | AFR | YRI | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18522 | hp2 | a0001 | c0003 | t0001 | g0147 | AFR | YRI | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | CHB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0228 | EAS | CHB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18747 | hp1 | a0001 | c0002 | t0001 | g0244 | EAS | CHB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18747 | hp2 | a0001 | c0004 | t0001 | g0145 | EAS | CHB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18942 | hp1 | a0001 | c0002 | t0001 | g0045 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18942 | hp2 | a0001 | c0002 | t0001 | g0083 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18944 | hp1 | a0001 | c0001 | t0009 | g0085 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18944 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18946 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18946 | hp2 | a0001 | c0002 | t0001 | g0046 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18948 | hp1 | a0001 | c0001 | t0003 | g0020 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18950 | hp1 | a0001 | c0004 | t0001 | g0057 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18950 | hp2 | a0001 | c0002 | t0001 | g0077 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18951 | hp2 | a0001 | c0011 | t0001 | g0135 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18953 | hp1 | a0001 | c0001 | t0003 | g0011 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18953 | hp2 | a0001 | c0002 | t0001 | g0108 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18960 | hp1 | a0001 | c0001 | t0003 | g0021 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18960 | hp2 | a0001 | c0020 | t0001 | g0075 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18962 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18962 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18964 | hp2 | a0001 | c0002 | t0001 | g0114 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18966 | hp1 | a0001 | c0002 | t0001 | g0115 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18966 | hp2 | a0001 | c0002 | t0003 | g0019 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18978 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18978 | hp2 | a0010 | c0027 | t0003 | g0018 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19002 | hp1 | a0001 | c0002 | t0001 | g0232 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19002 | hp2 | a0011 | c0017 | t0001 | g0123 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19004 | hp1 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19004 | hp2 | a0001 | c0002 | t0003 | g0014 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0188 | AFR | LWK | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19030 | hp2 | a0001 | c0005 | t0006 | g0039 | AFR | LWK | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19043 | hp1 | a0001 | c0004 | t0001 | g0223 | AFR | LWK | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19043 | hp2 | a0001 | c0006 | t0001 | g0165 | AFR | LWK | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19057 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19058 | hp1 | a0001 | c0002 | t0001 | g0131 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19058 | hp2 | a0001 | c0001 | t0003 | g0027 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19064 | hp1 | a0001 | c0002 | t0003 | g0017 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19070 | hp2 | a0001 | c0011 | t0001 | g0051 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19085 | hp1 | a0001 | c0001 | t0003 | g0015 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19085 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19088 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0128 | AFR | YRI | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA19240 | hp2 | a0001 | c0001 | t0002 | g0215 | AFR | YRI | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA20129 | hp1 | a0001 | c0001 | t0014 | g0249 | AFR | ASW | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA20129 | hp2 | a0001 | c0003 | t0001 | g0160 | AFR | ASW | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0090 | SAS | GIH | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA20905 | hp2 | a0001 | c0002 | t0001 | g0116 | SAS | GIH | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01123 | hp1 | a0001 | c0001 | t0003 | g0025 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG01123 | hp2 | a0001 | c0004 | t0001 | g0067 | AMR | CLM | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02486 | hp1 | a0001 | c0001 | t0005 | g0036 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG02486 | hp2 | a0001 | c0002 | t0001 | g0187 | AFR | ACB | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG06807 | hp1 | a0001 | c0001 | t0002 | g0199 | AFR | USA | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
HG06807 | hp2 | a0001 | c0001 | t0001 | g0129 | AFR | USA | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0109 | AFR | USA | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA20300 | hp2 | a0012 | c0015 | t0001 | g0186 | AFR | USA | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA21309 | hp1 | a0001 | c0025 | t0001 | g0043 | AFR | LWK | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
NA21309 | hp2 | a0001 | c0003 | t0004 | g0003 | AFR | LWK | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
homoSapiens | chm13v2 | a0001 | c0004 | t0001 | g0225 | REF | REF | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
homoSapiens | grch38p0 | a0001 | c0003 | t0001 | g0105 | REF | REF | ABCA3_chr16_2270881_2345728 | ABCA3 | chr16 | 2270881 | 2345728 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:2276766 | C | T | 1 | a0002 | 2 | HG01516.hp2 HG01517.hp2 |
missense_variant | MODERATE | c.5023G>A | p.Val1675Met | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 33/33 | 5717/6602 | 5023/5115 | 1675/1704 | chr16 | 2276766 | |||
chr16:2285641 | C | T | 1 | a0011 | 1 | NA19002.hp2 | missense_variant | MODERATE | c.3284G>A | p.Arg1095Gln | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/33 | 3978/6602 | 3284/5115 | 1095/1704 | chr16 | 2285641 | |||
chr16:2286803 | C | T | 1 | a0009 | 1 | HG03927.hp1 | missense_variant | MODERATE | c.3169G>A | p.Val1057Met | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/33 | 3863/6602 | 3169/5115 | 1057/1704 | chr16 | 2286803 | |||
chr16:2295671 | T | C | 1 | a0008 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.2333A>G | p.His778Arg | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/33 | 3027/6602 | 2333/5115 | 778/1704 | chr16 | 2295671 | |||
chr16:2295722 | G | A | 1 | a0007 | 1 | HG03209.hp2 | missense_variant | MODERATE | c.2282C>T | p.Thr761Met | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/33 | 2976/6602 | 2282/5115 | 761/1704 | chr16 | 2295722 | |||
chr16:2297473 | G | A | 1 | a0005 | 1 | HG01891.hp1 | missense_variant | MODERATE | c.2119C>T | p.Leu707Phe | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/33 | 2813/6602 | 2119/5115 | 707/1704 | chr16 | 2297473 | |||
chr16:2297497 | A | C | 1 | a0012 | 1 | NA20300.hp2 | missense_variant | MODERATE | c.2095T>G | p.Ser699Ala | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/33 | 2789/6602 | 2095/5115 | 699/1704 | chr16 | 2297497 | |||
chr16:2297858 | G | C | 1 | a0010 | 1 | NA18978.hp2 | missense_variant | MODERATE | c.1960C>G | p.Leu654Val | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 16/33 | 2654/6602 | 1960/5115 | 654/1704 | chr16 | 2297858 | |||
chr16:2300067 | C | T | 1 | a0003 | 1 | HG01192.hp1 | missense_variant | MODERATE | c.1549G>A | p.Glu517Lys | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/33 | 2243/6602 | 1549/5115 | 517/1704 | chr16 | 2300067 | |||
chr16:2300114 | G | T | 1 | a0003 | 1 | HG01192.hp1 | missense_variant | MODERATE | c.1502C>A | p.Ala501Glu | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/33 | 2196/6602 | 1502/5115 | 501/1704 | chr16 | 2300114 | |||
chr16:2319591 | C | T | 1 | a0004 | 1 | HG01255.hp1 | missense_variant | MODERATE | c.863G>A | p.Arg288Lys | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/33 | 1557/6602 | 863/5115 | 288/1704 | chr16 | 2319591 | |||
chr16:2326169 | C | T | 1 | a0006 | 1 | HG02300.hp2 | missense_variant | MODERATE | c.160G>A | p.Ala54Thr | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/33 | 854/6602 | 160/5115 | 54/1704 | chr16 | 2326169 | |||
chr16:2328455 | G | C | 1 | a0001 | 6 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
splice_region_variant | LOW | c.-29C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | chr16 | 2328455 | |||||||
chr16:2328757 | G | C | 1 | a0001 | 1 | NA20129.hp1 | splice_region_variant | LOW | c.-331C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | chr16 | 2328757 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:2278365 | G | A | 1 | a0001c0018 | 1 | HG03710.hp1 | synonymous_variant | LOW | c.4641C>T | p.Pro1547Pro | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 30/33 | 5335/6602 | 4641/5115 | 1547/1704 | chr16 | 2278365 | |||
chr16:2281393 | C | T | 1 | a0001c0019 | 1 | HG02922.hp2 | synonymous_variant | LOW | c.4152G>A | p.Lys1384Lys | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 27/33 | 4846/6602 | 4152/5115 | 1384/1704 | chr16 | 2281393 | |||
chr16:2281429 | A | G | 20 | a0001c0001 a0001c0002 a0001c0004 others(17): Show |
216 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(213): Show |
synonymous_variant | LOW | c.4116T>C | p.Ser1372Ser | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 27/33 | 4810/6602 | 4116/5115 | 1372/1704 | chr16 | 2281429 | |||
chr16:2283237 | C | A | 1 | a0001c0020 | 1 | NA18960.hp2 | synonymous_variant | LOW | c.3984G>T | p.Leu1328Leu | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/33 | 4678/6602 | 3984/5115 | 1328/1704 | chr16 | 2283237 | |||
chr16:2284280 | A | G | 1 | a0001c0024 | 1 | HG02818.hp1 | splice_region_variant&synonymous_variant | LOW | c.3861T>C | p.Tyr1287Tyr | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/33 | 4555/6602 | 3861/5115 | 1287/1704 | chr16 | 2284280 | |||
chr16:2288234 | C | T | 1 | a0005c0023 | 1 | HG01891.hp1 | synonymous_variant | LOW | c.2796G>A | p.Val932Val | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/33 | 3490/6602 | 2796/5115 | 932/1704 | chr16 | 2288234 | |||
chr16:2298413 | G | A | 2 | a0001c0024 a0001c0025 |
2 | HG02818.hp1 NA21309.hp1 |
synonymous_variant | LOW | c.1869C>T | p.Val623Val | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/33 | 2563/6602 | 1869/5115 | 623/1704 | chr16 | 2298413 | |||
chr16:2298527 | G | C | 2 | a0001c0004 a0001c0007 |
17 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(14): Show |
synonymous_variant | LOW | c.1755C>G | p.Pro585Pro | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/33 | 2449/6602 | 1755/5115 | 585/1704 | chr16 | 2298527 | |||
chr16:2299422 | G | A | 1 | a0001c0026 | 1 | HG00639.hp2 | synonymous_variant | LOW | c.1722C>T | p.Thr574Thr | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/33 | 2416/6602 | 1722/5115 | 574/1704 | chr16 | 2299422 | |||
chr16:2317335 | G | A | 5 | a0001c0002 a0001c0006 a0001c0008 others(2): Show |
51 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(48): Show |
synonymous_variant | LOW | c.1059C>T | p.Phe353Phe | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/33 | 1753/6602 | 1059/5115 | 353/1704 | chr16 | 2317335 | |||
chr16:2319773 | G | A | 2 | a0001c0007 a0001c0008 |
6 | HG00323.hp2 HG00642.hp2 HG01099.hp2 others(3): Show |
synonymous_variant | LOW | c.681C>T | p.Ala227Ala | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/33 | 1375/6602 | 681/5115 | 227/1704 | chr16 | 2319773 | |||
chr16:2323686 | C | T | 2 | a0001c0005 a0001c0009 |
9 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(6): Show |
splice_region_variant&synonymous_variant | LOW | c.450G>A | p.Val150Val | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/33 | 1144/6602 | 450/5115 | 150/1704 | chr16 | 2323686 | |||
chr16:2326116 | G | A | 2 | a0001c0011 a0001c0028 |
3 | HG00408.hp2 NA18951.hp2 NA19070.hp2 |
synonymous_variant | LOW | c.213C>T | p.Phe71Phe | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/33 | 907/6602 | 213/5115 | 71/1704 | chr16 | 2326116 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:2276362 | C | A | 1 | a0001c0001t0009 | 1 | NA18944.hp1 | 3_prime_UTR_variant | MODIFIER | c.*312G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 33/33 | 312 | chr16 | 2276362 | ||||||
chr16:2326475 | T | C | 1 | a0001c0005t0006 | 2 | HG02809.hp1 NA19030.hp2 |
5_prime_UTR_variant | MODIFIER | c.-9A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 4/33 | 9 | chr16 | 2326475 | ||||||
chr16:2328595 | C | T | 11 | a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(8): Show |
39 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(36): Show |
5_prime_UTR_variant | MODIFIER | c.-169G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | 2129 | chr16 | 2328595 | ||||||
chr16:2328600 | G | C | 1 | a0001c0001t0010 | 1 | HG02615.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-174C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | chr16 | 2328600 | |||||||
chr16:2328608 | G | A | 1 | a0001c0002t0011 | 1 | HG00639.hp1 | 5_prime_UTR_variant | MODIFIER | c.-182C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | 2142 | chr16 | 2328608 | ||||||
chr16:2328662 | G | C | 7 | a0001c0001t0002 a0001c0001t0007 a0001c0003t0002 others(4): Show |
34 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(31): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-236C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | chr16 | 2328662 | |||||||
chr16:2328680 | G | A | 2 | a0001c0001t0008 a0001c0003t0008 |
2 | HG02257.hp1 HG03225.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-254C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/33 | chr16 | 2328680 | |||||||
chr16:2329733 | G | A | 1 | a0001c0003t0012 | 1 | HG03942.hp1 | 5_prime_UTR_variant | MODIFIER | c.-417C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/33 | 3267 | chr16 | 2329733 | ||||||
chr16:2329810 | G | A | 6 | a0001c0001t0002 a0001c0003t0002 a0001c0019t0002 others(3): Show |
32 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(29): Show |
5_prime_UTR_variant | MODIFIER | c.-494C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/33 | 3344 | chr16 | 2329810 | ||||||
chr16:2340592 | G | A | 1 | a0001c0001t0013 | 1 | HG01515.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-558C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/33 | chr16 | 2340592 | |||||||
chr16:2340595 | G | T | 4 | a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 others(1): Show |
25 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(22): Show |
5_prime_UTR_variant | MODIFIER | c.-561C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/33 | 14129 | chr16 | 2340595 | ||||||
chr16:2340603 | G | A | 1 | a0001c0001t0014 | 1 | NA20129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-569C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/33 | 14137 | chr16 | 2340603 | ||||||
chr16:2340685 | G | C | 1 | a0001c0001t0015 | 1 | HG02148.hp1 | 5_prime_UTR_variant | MODIFIER | c.-651C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/33 | 14219 | chr16 | 2340685 | ||||||
chr16:2340705 | A | T | 3 | a0001c0001t0004 a0001c0003t0004 a0001c0006t0004 |
6 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-671T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/33 | 14239 | chr16 | 2340705 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:2276860 | C | T | 3 | a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0003t0012g0089 |
3 | HG03927.hp2 HG03942.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.4984-55G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2276860 | |||||||
chr16:2276897 | G | C | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4984-92C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2276897 | |||||||
chr16:2277007 | G | C | 6 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(3): Show |
7 | HG01891.hp2 HG02486.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4984-202C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277007 | |||||||
chr16:2277016 | G | A | 1 | a0001c0001t0002g0207 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4984-211C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277016 | |||||||
chr16:2277118 | G | C | 8 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(5): Show |
8 | HG01109.hp1 HG02809.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.4984-313C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277118 | |||||||
chr16:2277220 | C | T | 3 | a0001c0001t0001g0143 a0001c0001t0002g0211 a0001c0001t0002g0212 |
3 | HG02615.hp2 HG02886.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.4983+377G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277220 | |||||||
chr16:2277275 | T | A | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.4983+322A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277275 | |||||||
chr16:2277282 | G | A | 1 | a0001c0001t0004g0008 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.4983+315C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277282 | |||||||
chr16:2277340 | C | T | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4983+257G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 32/32 | chr16 | 2277340 | |||||||
chr16:2277821 | G | A | 1 | a0001c0001t0001g0161 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.4909+58C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 31/32 | chr16 | 2277821 | |||||||
chr16:2277823 | G | T | 1 | a0001c0001t0001g0161 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.4909+56C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 31/32 | chr16 | 2277823 | |||||||
chr16:2277831 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.4909+48A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 31/32 | chr16 | 2277831 | |||||||
chr16:2277867 | G | C | 3 | a0001c0002t0001g0233 a0001c0002t0001g0245 a0001c0002t0011g0101 |
3 | HG00639.hp1 HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.4909+12C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 31/32 | chr16 | 2277867 | |||||||
chr16:2278099 | C | T | 1 | a0001c0001t0001g0235 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.4719-30G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 30/32 | chr16 | 2278099 | |||||||
chr16:2278145 | G | C | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4719-76C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 30/32 | chr16 | 2278145 | |||||||
chr16:2278247 | C | T | 1 | a0001c0001t0001g0074 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.4718+41G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 30/32 | chr16 | 2278247 | |||||||
chr16:2278495 | T | G | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4548-37A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 29/32 | chr16 | 2278495 | |||||||
chr16:2278649 | G | T | 116 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(113): Show |
116 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.4548-191C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 29/32 | chr16 | 2278649 | |||||||
chr16:2278773 | G | A | 1 | a0001c0001t0002g0217 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.4547+170C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 29/32 | chr16 | 2278773 | |||||||
chr16:2278789 | G | A | 197 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(194): Show |
199 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(196): Show |
intron_variant | MODIFIER | c.4547+154C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 29/32 | chr16 | 2278789 | |||||||
chr16:2278888 | T | C | 7 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(4): Show |
8 | HG01891.hp2 HG02486.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.4547+55A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 29/32 | chr16 | 2278888 | |||||||
chr16:2278940 | C | T | 1 | a0001c0001t0002g0207 | 1 | HG03139.hp2 | splice_region_variant&intron_variant | LOW | c.4547+3G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 29/32 | chr16 | 2278940 | |||||||
chr16:2279170 | G | A | 6 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(3): Show |
7 | HG01891.hp2 HG02486.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.4360-40C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279170 | |||||||
chr16:2279260 | C | T | 81 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0068 others(78): Show |
83 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
intron_variant | MODIFIER | c.4360-130G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279260 | |||||||
chr16:2279421 | G | A | 1 | a0001c0001t0005g0036 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.4360-291C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279421 | |||||||
chr16:2279480 | G | T | 1 | a0001c0001t0001g0177 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.4360-350C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279480 | |||||||
chr16:2279601 | C | A | 1 | a0001c0001t0001g0219 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4360-471G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279601 | |||||||
chr16:2279653 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.4360-523G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279653 | |||||||
chr16:2279742 | A | AT | 9 | a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0235 others(6): Show |
9 | HG00597.hp2 HG01109.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.4360-613dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279742 | |||||||
chr16:2279742 | AT | A | 15 | a0001c0001t0001g0055 a0001c0001t0002g0198 a0001c0001t0003g0011 others(12): Show |
15 | HG01515.hp1 HG01928.hp2 HG02280.hp1 others(12): Show |
intron_variant | MODIFIER | c.4360-613delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279742 | |||||||
chr16:2279970 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.4360-840G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2279970 | |||||||
chr16:2280029 | G | A | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4360-899C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280029 | |||||||
chr16:2280168 | C | G | 117 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(114): Show |
117 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.4359+859G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280168 | |||||||
chr16:2280240 | T | G | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4359+787A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280240 | |||||||
chr16:2280522 | G | A | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4359+505C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280522 | |||||||
chr16:2280587 | C | T | 16 | a0001c0004t0001g0040 a0001c0004t0001g0053 a0001c0004t0001g0057 others(13): Show |
16 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.4359+440G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280587 | |||||||
chr16:2280591 | C | A | 2 | a0001c0001t0001g0058 a0001c0001t0001g0122 |
2 | HG00621.hp2 NA19057.hp1 |
intron_variant | MODIFIER | c.4359+436G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280591 | |||||||
chr16:2280598 | C | T | 1 | a0001c0002t0001g0065 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.4359+429G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280598 | |||||||
chr16:2280649 | G | A | 1 | a0001c0002t0001g0232 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.4359+378C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 28/32 | chr16 | 2280649 | |||||||
chr16:2281229 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG01943.hp2 | splice_region_variant&intron_variant | LOW | c.4165-8G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 27/32 | chr16 | 2281229 | |||||||
chr16:2281363 | C | T | 1 | a0001c0001t0001g0219 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4164+18G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 27/32 | chr16 | 2281363 | |||||||
chr16:2281564 | G | A | 3 | a0001c0005t0001g0048 a0001c0024t0001g0164 a0001c0025t0001g0043 |
3 | HG02818.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4036-55C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2281564 | |||||||
chr16:2281656 | G | A | 1 | a0001c0001t0001g0237 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.4036-147C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2281656 | |||||||
chr16:2281806 | A | AT | 6 | a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0100 others(3): Show |
6 | HG00544.hp2 HG00597.hp1 HG01258.hp1 others(3): Show |
intron_variant | MODIFIER | c.4036-298dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2281806 | |||||||
chr16:2281978 | C | T | 180 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(177): Show |
181 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(178): Show |
intron_variant | MODIFIER | c.4036-469G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2281978 | |||||||
chr16:2282050 | A | G | 1 | a0001c0005t0001g0179 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.4036-541T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282050 | |||||||
chr16:2282086 | G | A | 3 | a0001c0005t0001g0048 a0001c0024t0001g0164 a0001c0025t0001g0043 |
3 | HG02818.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.4036-577C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282086 | |||||||
chr16:2282388 | C | T | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.4035+798G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282388 | |||||||
chr16:2282574 | A | AGCACCCC others(67): Show |
1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.4035+538_4035+611d others(76): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282574 | |||||||
chr16:2282574 | AGCACCCC others(67): Show |
A | 2 | a0001c0001t0001g0055 a0001c0001t0002g0192 |
2 | HG03209.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.4035+538_4035+611d others(76): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282574 | |||||||
chr16:2282576 | C | T | 67 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0068 others(64): Show |
68 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.4035+610G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282576 | |||||||
chr16:2282650 | C | T | 1 | a0001c0001t0001g0055 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.4035+536G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282650 | |||||||
chr16:2282726 | CCCCTCAG others(67): Show |
C | 1 | a0001c0001t0001g0034 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4035+386_4035+459d others(76): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282726 | |||||||
chr16:2282751 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.4035+435G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282751 | |||||||
chr16:2282900 | A | G | 5 | a0001c0001t0001g0243 a0001c0002t0001g0117 a0001c0002t0003g0016 others(2): Show |
5 | HG00738.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
intron_variant | MODIFIER | c.4035+286T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282900 | |||||||
chr16:2282909 | G | C | 1 | a0003c0014t0001g0098 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4035+277C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2282909 | |||||||
chr16:2283029 | G | T | 1 | a0001c0003t0002g0201 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.4035+157C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2283029 | |||||||
chr16:2283054 | G | A | 1 | a0001c0002t0001g0232 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.4035+132C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2283054 | |||||||
chr16:2283132 | A | G | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4035+54T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2283132 | |||||||
chr16:2283141 | G | T | 1 | a0001c0001t0001g0235 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.4035+45C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 26/32 | chr16 | 2283141 | |||||||
chr16:2283386 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.3863-28G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/32 | chr16 | 2283386 | |||||||
chr16:2283512 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.3863-154G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/32 | chr16 | 2283512 | |||||||
chr16:2283548 | C | T | 1 | a0001c0001t0002g0192 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.3863-190G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/32 | chr16 | 2283548 | |||||||
chr16:2283913 | G | A | 2 | a0001c0001t0001g0079 a0001c0001t0003g0021 |
2 | NA18960.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.3862+366C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/32 | chr16 | 2283913 | |||||||
chr16:2284150 | G | A | 1 | a0001c0004t0001g0106 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3862+129C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/32 | chr16 | 2284150 | |||||||
chr16:2284162 | C | A | 66 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(63): Show |
67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.3862+117G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 25/32 | chr16 | 2284162 | |||||||
chr16:2284553 | A | T | 181 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(178): Show |
182 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(179): Show |
intron_variant | MODIFIER | c.3704-116T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 24/32 | chr16 | 2284553 | |||||||
chr16:2284575 | G | A | 1 | a0001c0001t0001g0107 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.3704-138C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 24/32 | chr16 | 2284575 | |||||||
chr16:2284679 | T | C | 1 | a0001c0001t0015g0250 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.3703+100A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 24/32 | chr16 | 2284679 | |||||||
chr16:2284727 | G | C | 1 | a0001c0001t0002g0194 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.3703+52C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 24/32 | chr16 | 2284727 | |||||||
chr16:2284767 | C | T | 1 | a0001c0001t0004g0008 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3703+12G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 24/32 | chr16 | 2284767 | |||||||
chr16:2285078 | T | C | 4 | a0001c0001t0001g0074 a0001c0001t0001g0144 a0001c0002t0003g0014 others(1): Show |
4 | NA18960.hp2 NA18962.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.3484-80A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | 2285078 | |||||||
chr16:2285133 | GCCA | G | 8 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0004g0008 others(5): Show |
9 | HG01891.hp2 HG02647.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.3484-138_3484-136d others(5): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | 2285133 | |||||||
chr16:2285195 | G | A | 16 | a0001c0004t0001g0040 a0001c0004t0001g0053 a0001c0004t0001g0057 others(13): Show |
16 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(13): Show |
intron_variant | MODIFIER | c.3484-197C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | 2285195 | |||||||
chr16:2285202 | T | C | 6 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(3): Show |
6 | HG01109.hp1 HG02258.hp1 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.3484-204A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | 2285202 | |||||||
chr16:2285253 | G | T | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.3483+189C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | 2285253 | |||||||
chr16:2285410 | G | A | 8 | a0001c0001t0001g0167 a0001c0001t0002g0193 a0001c0001t0002g0194 others(5): Show |
8 | HG01071.hp1 HG02257.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.3483+32C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 23/32 | chr16 | 2285410 | |||||||
chr16:2285707 | G | A | 2 | a0001c0002t0001g0141 a0001c0002t0001g0168 |
2 | HG02698.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.3279-61C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2285707 | |||||||
chr16:2285901 | T | C | 1 | a0001c0001t0001g0239 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.3279-255A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2285901 | |||||||
chr16:2286234 | G | A | 1 | a0001c0002t0001g0142 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.3278+460C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2286234 | |||||||
chr16:2286393 | T | C | 67 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(64): Show |
68 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.3278+301A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2286393 | |||||||
chr16:2286475 | C | T | 1 | a0001c0025t0001g0043 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.3278+219G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2286475 | |||||||
chr16:2286624 | G | A | 2 | a0001c0004t0001g0120 a0001c0004t0001g0170 |
2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.3278+70C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2286624 | |||||||
chr16:2286678 | C | T | 1 | a0001c0026t0002g0208 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3278+16G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 22/32 | chr16 | 2286678 | |||||||
chr16:2287023 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.3005-56G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287023 | |||||||
chr16:2287220 | C | G | 1 | a0001c0001t0001g0161 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.3005-253G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287220 | |||||||
chr16:2287288 | C | CTTTT | 7 | a0001c0004t0001g0067 a0001c0004t0001g0080 a0001c0004t0001g0106 others(4): Show |
7 | HG00323.hp2 HG00642.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.3005-325_3005-322d others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287288 | |||||||
chr16:2287342 | C | A | 1 | a0001c0001t0003g0026 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.3005-375G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287342 | |||||||
chr16:2287594 | A | G | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3004+432T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287594 | |||||||
chr16:2287723 | A | C | 1 | a0001c0001t0002g0199 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3004+303T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287723 | |||||||
chr16:2287992 | G | A | 113 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(110): Show |
113 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.3004+34C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2287992 | |||||||
chr16:2288005 | C | T | 2 | a0001c0005t0001g0048 a0001c0025t0001g0043 |
2 | HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.3004+21G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 21/32 | chr16 | 2288005 | |||||||
chr16:2288362 | C | G | 184 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(181): Show |
185 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(182): Show |
intron_variant | MODIFIER | c.2701-33G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288362 | |||||||
chr16:2288453 | C | T | 1 | a0001c0001t0001g0127 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2701-124G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288453 | |||||||
chr16:2288476 | C | A | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2701-147G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288476 | |||||||
chr16:2288477 | G | A | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2701-148C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288477 | |||||||
chr16:2288496 | T | C | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2701-167A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288496 | |||||||
chr16:2288497 | G | T | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2701-168C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288497 | |||||||
chr16:2288552 | A | G | 1 | a0001c0001t0001g0062 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2701-223T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288552 | |||||||
chr16:2288736 | G | T | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2701-407C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288736 | |||||||
chr16:2288932 | G | C | 1 | a0001c0001t0001g0035 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2700+502C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288932 | |||||||
chr16:2288940 | G | A | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2700+494C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2288940 | |||||||
chr16:2289282 | G | A | 1 | a0001c0001t0003g0030 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.2700+152C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2289282 | |||||||
chr16:2289296 | C | G | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2700+138G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2289296 | |||||||
chr16:2289298 | C | T | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2700+136G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2289298 | |||||||
chr16:2289299 | G | C | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2700+135C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2289299 | |||||||
chr16:2289303 | T | G | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2700+131A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2289303 | |||||||
chr16:2289411 | C | T | 1 | a0001c0001t0001g0237 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2700+23G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 20/32 | chr16 | 2289411 | |||||||
chr16:2289628 | G | A | 6 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(3): Show |
7 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.2514-8C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289628 | |||||||
chr16:2289713 | T | C | 22 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(19): Show |
23 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.2514-93A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289713 | |||||||
chr16:2289777 | C | A | 1 | a0001c0001t0001g0052 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2514-157G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289777 | |||||||
chr16:2289961 | T | TCA | 38 | a0001c0001t0001g0035 a0001c0001t0001g0058 a0001c0001t0001g0068 others(35): Show |
38 | HG00323.hp2 HG00621.hp2 HG00642.hp2 others(35): Show |
intron_variant | MODIFIER | c.2514-343_2514-342d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACA | 67 | a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0062 others(64): Show |
67 | HG00099.hp2 HG00280.hp2 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.2514-345_2514-342d others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACACA | 31 | a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0001t0001g0076 others(28): Show |
31 | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(28): Show |
intron_variant | MODIFIER | c.2514-347_2514-342d others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACACAC others(3): Show |
1 | a0001c0001t0002g0199 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2514-351_2514-342d others(12): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACACAC others(5): Show |
2 | a0001c0003t0002g0190 a0001c0003t0002g0218 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2514-353_2514-342d others(14): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACACAC others(7): Show |
1 | a0001c0001t0001g0128 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2514-355_2514-342d others(16): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACACAC others(9): Show |
2 | a0001c0001t0001g0070 a0001c0001t0001g0104 |
2 | HG02155.hp1 NA18962.hp2 |
intron_variant | MODIFIER | c.2514-357_2514-342d others(18): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | T | TCACACAC others(11): Show |
2 | a0001c0001t0001g0129 a0001c0001t0003g0027 |
2 | HG06807.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.2514-359_2514-342d others(20): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | TCA | T | 8 | a0001c0001t0001g0100 a0001c0001t0003g0026 a0001c0002t0001g0045 others(5): Show |
8 | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(5): Show |
intron_variant | MODIFIER | c.2514-343_2514-342d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | TCACA | T | 52 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(49): Show |
53 | HG00597.hp2 HG00609.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.2514-345_2514-342d others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | TCACACA | T | 4 | a0001c0001t0001g0094 a0001c0002t0001g0050 a0001c0004t0001g0040 others(1): Show |
4 | HG00609.hp1 HG01978.hp2 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.2514-347_2514-342d others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289961 | TCACACAC others(1): Show |
T | 3 | a0001c0001t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0168 |
3 | HG00099.hp1 HG02698.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.2514-349_2514-342d others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289961 | |||||||
chr16:2289999 | ACAC | A | 3 | a0001c0001t0001g0088 a0001c0002t0001g0114 a0001c0002t0001g0117 |
3 | HG01952.hp1 NA18964.hp2 NA18978.hp1 |
intron_variant | MODIFIER | c.2514-382_2514-380d others(5): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2289999 | |||||||
chr16:2290002 | C | CACACA | 3 | a0001c0001t0001g0072 a0001c0001t0001g0176 a0001c0001t0013g0248 |
3 | HG01515.hp2 NA18959.hp1 NA18959.hp2 |
intron_variant | MODIFIER | c.2514-383_2514-382i others(7): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2290002 | |||||||
chr16:2290002 | C | CACACACA others(4): Show |
1 | a0001c0001t0002g0195 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2514-383_2514-382i others(13): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2290002 | |||||||
chr16:2290003 | C | A | 1 | a0001c0001t0001g0068 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.2514-383G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2290003 | |||||||
chr16:2290602 | G | C | 221 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(218): Show |
223 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.2514-982C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2290602 | |||||||
chr16:2290983 | C | A | 5 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(2): Show |
6 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.2513+1157G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2290983 | |||||||
chr16:2291354 | T | C | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2513+786A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291354 | |||||||
chr16:2291393 | G | A | 1 | a0001c0001t0001g0238 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.2513+747C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291393 | |||||||
chr16:2291448 | C | T | 1 | a0001c0001t0002g0192 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2513+692G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291448 | |||||||
chr16:2291640 | G | A | 1 | a0004c0013t0001g0166 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2513+500C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291640 | |||||||
chr16:2291709 | C | T | 1 | a0001c0001t0001g0095 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2513+431G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291709 | |||||||
chr16:2291819 | A | C | 1 | a0001c0001t0003g0029 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2513+321T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291819 | |||||||
chr16:2291848 | C | T | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.2513+292G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2291848 | |||||||
chr16:2292094 | A | G | 4 | a0001c0001t0001g0076 a0001c0001t0001g0127 a0001c0001t0001g0230 others(1): Show |
4 | NA18612.hp1 NA18951.hp1 NA19070.hp2 others(1): Show |
intron_variant | MODIFIER | c.2513+46T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 19/32 | chr16 | 2292094 | |||||||
chr16:2292602 | A | T | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2415-364T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2292602 | |||||||
chr16:2292686 | G | A | 5 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(2): Show |
6 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.2415-448C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2292686 | |||||||
chr16:2292766 | T | C | 68 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(65): Show |
69 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
intron_variant | MODIFIER | c.2415-528A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2292766 | |||||||
chr16:2293107 | A | C | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.2415-869T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293107 | |||||||
chr16:2293116 | G | A | 104 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(101): Show |
106 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.2415-878C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293116 | |||||||
chr16:2293261 | C | G | 6 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(3): Show |
7 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.2415-1023G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293261 | |||||||
chr16:2293311 | A | G | 1 | a0001c0001t0001g0171 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2415-1073T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293311 | |||||||
chr16:2293367 | C | CT | 85 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 others(82): Show |
86 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(83): Show |
intron_variant | MODIFIER | c.2415-1130dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293367 | |||||||
chr16:2293367 | C | CTT | 9 | a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0189 others(6): Show |
9 | HG00408.hp2 HG00609.hp1 HG00735.hp2 others(6): Show |
intron_variant | MODIFIER | c.2415-1131_2415-113 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293367 | |||||||
chr16:2293475 | A | G | 108 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(105): Show |
110 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.2415-1237T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293475 | |||||||
chr16:2293539 | GT | G | 5 | a0001c0001t0001g0071 a0001c0001t0002g0192 a0001c0001t0002g0207 others(2): Show |
5 | HG00639.hp1 HG02895.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.2415-1302delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293539 | |||||||
chr16:2293698 | C | T | 1 | a0001c0002t0001g0077 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.2415-1460G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293698 | |||||||
chr16:2293699 | G | A | 1 | a0001c0003t0001g0162 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2415-1461C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293699 | |||||||
chr16:2293715 | G | C | 19 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 others(16): Show |
19 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(16): Show |
intron_variant | MODIFIER | c.2415-1477C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293715 | |||||||
chr16:2293741 | C | T | 2 | a0001c0001t0001g0234 a0001c0001t0001g0242 |
2 | HG03927.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.2415-1503G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293741 | |||||||
chr16:2293773 | C | T | 1 | a0001c0001t0001g0237 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2415-1535G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293773 | |||||||
chr16:2293889 | C | T | 2 | a0001c0024t0001g0164 a0001c0025t0001g0043 |
2 | HG02818.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2415-1651G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2293889 | |||||||
chr16:2294082 | T | C | 110 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(107): Show |
110 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(107): Show |
intron_variant | MODIFIER | c.2414+1508A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294082 | |||||||
chr16:2294164 | C | T | 1 | a0001c0001t0001g0231 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2414+1426G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294164 | |||||||
chr16:2294207 | T | C | 1 | a0001c0001t0001g0107 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.2414+1383A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294207 | |||||||
chr16:2294228 | G | A | 1 | a0001c0007t0001g0140 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.2414+1362C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294228 | |||||||
chr16:2294273 | G | A | 1 | a0009c0016t0001g0111 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2414+1317C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294273 | |||||||
chr16:2294292 | C | T | 35 | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 others(32): Show |
36 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.2414+1298G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294292 | |||||||
chr16:2294461 | G | A | 4 | a0001c0003t0001g0240 a0001c0006t0004g0004 a0001c0006t0004g0005 others(1): Show |
4 | HG02280.hp1 HG02723.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2414+1129C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294461 | |||||||
chr16:2294512 | C | T | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2414+1078G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294512 | |||||||
chr16:2294561 | A | T | 2 | a0001c0001t0001g0090 a0001c0001t0001g0161 |
2 | HG04115.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2414+1029T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294561 | |||||||
chr16:2294602 | A | C | 2 | a0001c0001t0001g0088 a0001c0002t0003g0019 |
2 | NA18966.hp2 NA18978.hp1 |
intron_variant | MODIFIER | c.2414+988T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294602 | |||||||
chr16:2294851 | T | C | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2414+739A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294851 | |||||||
chr16:2294990 | A | G | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2414+600T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2294990 | |||||||
chr16:2295342 | T | C | 1 | a0001c0004t0001g0119 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2414+248A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2295342 | |||||||
chr16:2295387 | T | C | 66 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(63): Show |
67 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.2414+203A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2295387 | |||||||
chr16:2295476 | G | A | 1 | a0004c0013t0001g0166 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2414+114C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2295476 | |||||||
chr16:2295523 | G | A | 1 | a0001c0001t0002g0195 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2414+67C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 18/32 | chr16 | 2295523 | |||||||
chr16:2295757 | C | T | 1 | a0001c0001t0001g0034 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2264-17G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2295757 | |||||||
chr16:2295804 | G | A | 7 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0004g0008 others(4): Show |
7 | HG01109.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.2264-64C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2295804 | |||||||
chr16:2295844 | A | C | 6 | a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 others(3): Show |
6 | HG01884.hp2 HG02055.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2264-104T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2295844 | |||||||
chr16:2296008 | C | T | 4 | a0001c0003t0002g0209 a0001c0003t0008g0163 a0001c0006t0001g0165 others(1): Show |
4 | HG02257.hp1 HG02809.hp2 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.2264-268G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296008 | |||||||
chr16:2296204 | C | T | 5 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(2): Show |
5 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.2264-464G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296204 | |||||||
chr16:2296291 | C | A | 1 | a0001c0002t0001g0244 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2264-551G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296291 | |||||||
chr16:2296378 | G | C | 1 | a0001c0001t0001g0092 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2264-638C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296378 | |||||||
chr16:2296479 | C | A | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2264-739G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296479 | |||||||
chr16:2296514 | C | T | 2 | a0001c0001t0001g0079 a0001c0001t0003g0021 |
2 | NA18960.hp1 NA18995.hp2 |
intron_variant | MODIFIER | c.2264-774G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296514 | |||||||
chr16:2296575 | G | A | 3 | a0001c0001t0002g0191 a0001c0005t0001g0179 a0001c0005t0001g0180 |
3 | HG01891.hp2 HG02723.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2263+754C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296575 | |||||||
chr16:2296698 | G | C | 1 | a0001c0003t0002g0205 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2263+631C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296698 | |||||||
chr16:2296850 | C | T | 1 | a0001c0001t0001g0112 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2263+479G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2296850 | |||||||
chr16:2297038 | T | G | 2 | a0001c0003t0001g0160 a0001c0009t0001g0047 |
2 | HG01884.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2263+291A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2297038 | |||||||
chr16:2297167 | A | C | 1 | a0001c0001t0001g0113 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2263+162T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2297167 | |||||||
chr16:2297307 | G | A | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2263+22C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2297307 | |||||||
chr16:2297309 | G | A | 1 | a0001c0001t0001g0062 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2263+20C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 17/32 | chr16 | 2297309 | |||||||
chr16:2297562 | G | A | 4 | a0001c0001t0002g0198 a0001c0001t0002g0220 a0001c0024t0001g0164 others(1): Show |
4 | HG02818.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.2053-23C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 16/32 | chr16 | 2297562 | |||||||
chr16:2297567 | G | A | 1 | a0001c0001t0003g0012 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2053-28C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 16/32 | chr16 | 2297567 | |||||||
chr16:2297604 | C | T | 1 | a0001c0003t0001g0157 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2053-65G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 16/32 | chr16 | 2297604 | |||||||
chr16:2297938 | C | T | 3 | a0001c0001t0001g0092 a0001c0001t0001g0128 a0001c0001t0001g0129 |
3 | HG03831.hp1 HG06807.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1897-17G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2297938 | |||||||
chr16:2297941 | AGGGAGAT others(233): Show |
A | 67 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(64): Show |
68 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.1896+205_1897-21de others(1): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2297941 | |||||||
chr16:2297962 | C | T | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1897-41G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2297962 | |||||||
chr16:2298054 | C | T | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1897-133G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2298054 | |||||||
chr16:2298101 | G | T | 1 | a0001c0001t0001g0074 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.1897-180C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2298101 | |||||||
chr16:2298174 | C | T | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1896+212G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2298174 | |||||||
chr16:2298207 | G | C | 158 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(155): Show |
159 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(156): Show |
intron_variant | MODIFIER | c.1896+179C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2298207 | |||||||
chr16:2298228 | T | G | 1 | a0001c0001t0001g0167 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1896+158A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2298228 | |||||||
chr16:2298316 | C | A | 3 | a0001c0001t0004g0008 a0001c0001t0014g0249 a0001c0006t0001g0165 |
3 | HG02717.hp1 NA19043.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1896+70G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 15/32 | chr16 | 2298316 | |||||||
chr16:2298606 | A | AC | 7 | a0001c0002t0001g0131 a0001c0003t0001g0151 a0001c0003t0001g0152 others(4): Show |
7 | HG01433.hp1 HG01516.hp2 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.1742-67dupG | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298606 | |||||||
chr16:2298617 | CCTCT | C | 14 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(11): Show |
14 | HG01109.hp1 HG02257.hp1 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.1742-81_1742-78del others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298617 | |||||||
chr16:2298617 | CCTCTCT | C | 4 | a0001c0001t0004g0008 a0001c0001t0014g0249 a0001c0002t0001g0187 others(1): Show |
4 | HG02486.hp2 HG02717.hp1 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.1742-83_1742-78del others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298617 | |||||||
chr16:2298656 | A | G | 116 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(113): Show |
116 | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.1742-116T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298656 | |||||||
chr16:2298780 | A | G | 59 | a0001c0001t0001g0113 a0001c0001t0001g0146 a0001c0001t0001g0219 others(56): Show |
60 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(57): Show |
intron_variant | MODIFIER | c.1742-240T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298780 | |||||||
chr16:2298819 | G | C | 7 | a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0152 others(4): Show |
7 | HG01261.hp2 HG01433.hp1 HG01516.hp2 others(4): Show |
intron_variant | MODIFIER | c.1742-279C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298819 | |||||||
chr16:2298928 | G | A | 1 | a0001c0006t0004g0004 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1742-388C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298928 | |||||||
chr16:2298993 | G | T | 1 | a0005c0023t0001g0044 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1741+410C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2298993 | |||||||
chr16:2299007 | A | AGACAGAG others(45): Show |
1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1741+395_1741+396i others(54): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299007 | |||||||
chr16:2299007 | AGACAGAG others(45): Show |
A | 30 | a0001c0001t0001g0144 a0001c0001t0001g0219 a0001c0001t0002g0191 others(27): Show |
31 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.1741+344_1741+395d others(54): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299007 | |||||||
chr16:2299007 | AGACAGAG others(97): Show |
A | 1 | a0001c0004t0001g0145 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1741+292_1741+395d others(2): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299007 | |||||||
chr16:2299058 | T | C | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1741+345A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299058 | |||||||
chr16:2299058 | T | TGGACAGA others(45): Show |
5 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG02602.hp1 others(2): Show |
intron_variant | MODIFIER | c.1741+293_1741+344d others(54): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299058 | |||||||
chr16:2299058 | T | TGGACAGA others(149): Show |
1 | a0001c0006t0001g0165 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1741+344_1741+345i others(158): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299058 | |||||||
chr16:2299058 | TGGACAGA others(45): Show |
T | 83 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(80): Show |
84 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(81): Show |
intron_variant | MODIFIER | c.1741+293_1741+344d others(54): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299058 | |||||||
chr16:2299161 | ACGGACAG others(46): Show |
A | 1 | a0001c0001t0003g0024 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.1741+189_1741+241d others(55): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299161 | |||||||
chr16:2299162 | C | T | 1 | a0001c0006t0001g0165 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1741+241G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299162 | |||||||
chr16:2299205 | C | T | 21 | a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0152 others(18): Show |
21 | HG01261.hp2 HG01433.hp1 HG01516.hp2 others(18): Show |
intron_variant | MODIFIER | c.1741+198G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299205 | |||||||
chr16:2299266 | G | A | 6 | a0001c0003t0001g0240 a0001c0003t0002g0209 a0001c0003t0008g0163 others(3): Show |
6 | HG02257.hp1 HG02280.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1741+137C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299266 | |||||||
chr16:2299370 | T | C | 101 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(98): Show |
103 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.1741+33A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 14/32 | chr16 | 2299370 | |||||||
chr16:2299580 | C | T | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1612-48G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299580 | |||||||
chr16:2299668 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1612-136G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299668 | |||||||
chr16:2299678 | A | G | 1 | a0001c0002t0001g0116 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1612-146T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299678 | |||||||
chr16:2299759 | G | T | 67 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(64): Show |
68 | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.1612-227C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299759 | |||||||
chr16:2299807 | C | A | 1 | a0001c0001t0002g0207 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1611+198G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299807 | |||||||
chr16:2299887 | G | C | 1 | a0001c0002t0011g0101 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1611+118C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299887 | |||||||
chr16:2299939 | C | T | 3 | a0001c0002t0001g0233 a0001c0002t0001g0245 a0001c0002t0011g0101 |
3 | HG00639.hp1 HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1611+66G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 13/32 | chr16 | 2299939 | |||||||
chr16:2300465 | C | T | 1 | a0001c0001t0001g0219 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1468-317G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300465 | |||||||
chr16:2300525 | C | T | 32 | a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0002g0191 others(29): Show |
32 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.1468-377G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300525 | |||||||
chr16:2300549 | C | T | 5 | a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0172 others(2): Show |
5 | HG00642.hp1 HG01192.hp2 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.1468-401G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300549 | |||||||
chr16:2300592 | C | T | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1468-444G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300592 | |||||||
chr16:2300639 | A | G | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1468-491T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300639 | |||||||
chr16:2300658 | G | A | 1 | a0001c0009t0001g0049 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1468-510C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300658 | |||||||
chr16:2300741 | G | A | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1468-593C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300741 | |||||||
chr16:2300827 | C | T | 2 | a0001c0003t0001g0148 a0001c0003t0001g0152 |
2 | HG01261.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.1468-679G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300827 | |||||||
chr16:2300845 | G | A | 6 | a0001c0003t0001g0240 a0001c0003t0002g0209 a0001c0003t0008g0163 others(3): Show |
6 | HG02257.hp1 HG02280.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1468-697C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300845 | |||||||
chr16:2300930 | TAAAATCA others(305): Show |
T | 2 | a0001c0001t0004g0008 a0001c0001t0014g0249 |
2 | HG02717.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1468-1094_1468-783 others(3): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300930 | |||||||
chr16:2300946 | C | G | 3 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 |
3 | HG01109.hp1 HG03225.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1468-798G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300946 | |||||||
chr16:2300957 | A | G | 1 | a0001c0003t0003g0010 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1468-809T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300957 | |||||||
chr16:2300958 | C | T | 1 | a0001c0003t0003g0010 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1468-810G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300958 | |||||||
chr16:2300967 | G | A | 4 | a0001c0001t0001g0127 a0001c0003t0003g0010 a0001c0024t0001g0164 others(1): Show |
4 | HG01106.hp1 HG02818.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.1468-819C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300967 | |||||||
chr16:2300968 | A | C | 4 | a0001c0001t0001g0127 a0001c0003t0003g0010 a0001c0024t0001g0164 others(1): Show |
4 | HG01106.hp1 HG02818.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.1468-820T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300968 | |||||||
chr16:2300969 | G | T | 1 | a0001c0003t0003g0010 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1468-821C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300969 | |||||||
chr16:2300997 | G | A | 207 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(204): Show |
208 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(205): Show |
intron_variant | MODIFIER | c.1468-849C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2300997 | |||||||
chr16:2301005 | C | T | 239 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(236): Show |
241 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.1468-857G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301005 | |||||||
chr16:2301006 | G | A | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1468-858C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301006 | |||||||
chr16:2301007 | G | A | 238 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(235): Show |
240 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.1468-859C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301007 | |||||||
chr16:2301012 | T | C | 239 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(236): Show |
241 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.1468-864A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301012 | |||||||
chr16:2301019 | A | G | 2 | a0001c0006t0001g0165 a0001c0009t0001g0049 |
2 | HG03516.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1468-871T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301019 | |||||||
chr16:2301026 | C | G | 4 | a0001c0001t0001g0072 a0001c0001t0001g0103 a0001c0001t0001g0176 others(1): Show |
4 | HG02132.hp2 NA18612.hp2 NA18959.hp1 others(1): Show |
intron_variant | MODIFIER | c.1468-878G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301026 | |||||||
chr16:2301033 | A | C | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1468-885T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301033 | |||||||
chr16:2301034 | T | C | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1468-886A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301034 | |||||||
chr16:2301041 | T | C | 1 | a0001c0001t0001g0234 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1468-893A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301041 | |||||||
chr16:2301042 | A | G | 1 | a0001c0002t0001g0115 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1468-894T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301042 | |||||||
chr16:2301046 | C | T | 6 | a0001c0001t0001g0058 a0001c0001t0001g0122 a0001c0001t0001g0189 others(3): Show |
6 | HG00621.hp2 HG02622.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.1468-898G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301046 | |||||||
chr16:2301058 | G | A | 2 | a0001c0001t0001g0234 a0001c0001t0002g0211 |
2 | HG02886.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.1468-910C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301058 | |||||||
chr16:2301066 | T | G | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1468-918A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301066 | |||||||
chr16:2301087 | C | T | 1 | a0001c0001t0001g0113 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1468-939G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301087 | |||||||
chr16:2301092 | G | A | 238 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(235): Show |
240 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.1468-944C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301092 | |||||||
chr16:2301095 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1468-947C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301095 | |||||||
chr16:2301108 | A | G | 2 | a0001c0001t0001g0113 a0001c0001t0003g0027 |
2 | HG02717.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.1468-960T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301108 | |||||||
chr16:2301134 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1468-986C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301134 | |||||||
chr16:2301180 | G | A | 101 | a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0088 others(98): Show |
102 | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(99): Show |
intron_variant | MODIFIER | c.1468-1032C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301180 | |||||||
chr16:2301188 | A | G | 112 | a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0088 others(109): Show |
113 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.1468-1040T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301188 | |||||||
chr16:2301189 | C | A | 112 | a0001c0001t0001g0055 a0001c0001t0001g0076 a0001c0001t0001g0088 others(109): Show |
113 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.1468-1041G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301189 | |||||||
chr16:2301195 | T | C | 112 | a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0088 others(109): Show |
113 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.1468-1047A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301195 | |||||||
chr16:2301226 | G | A | 30 | a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0002g0191 others(27): Show |
30 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(27): Show |
intron_variant | MODIFIER | c.1468-1078C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301226 | |||||||
chr16:2301230 | CA | C | 6 | a0001c0001t0002g0198 a0001c0001t0003g0011 a0001c0001t0004g0006 others(3): Show |
6 | HG01255.hp1 HG02897.hp2 HG03017.hp2 others(3): Show |
intron_variant | MODIFIER | c.1468-1083delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301230 | |||||||
chr16:2301278 | A | G | 4 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0005t0001g0179 others(1): Show |
4 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1468-1130T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301278 | |||||||
chr16:2301478 | G | A | 1 | a0001c0001t0001g0127 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1468-1330C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301478 | |||||||
chr16:2301536 | G | A | 1 | a0001c0026t0002g0208 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1468-1388C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301536 | |||||||
chr16:2301552 | CA | C | 6 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(3): Show |
6 | HG01109.hp1 HG02809.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.1468-1405delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301552 | |||||||
chr16:2301573 | A | G | 59 | a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0002g0191 others(56): Show |
59 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(56): Show |
intron_variant | MODIFIER | c.1468-1425T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301573 | |||||||
chr16:2301600 | C | T | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1468-1452G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301600 | |||||||
chr16:2301713 | GA | G | 20 | a0001c0001t0001g0071 a0001c0002t0001g0187 a0001c0003t0001g0148 others(17): Show |
20 | HG01261.hp2 HG01433.hp1 HG01516.hp2 others(17): Show |
intron_variant | MODIFIER | c.1468-1566delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301713 | |||||||
chr16:2301844 | C | A | 1 | a0001c0001t0001g0062 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1468-1696G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301844 | |||||||
chr16:2301919 | G | A | 6 | a0001c0001t0002g0206 a0001c0001t0002g0213 a0001c0001t0002g0216 others(3): Show |
6 | HG01243.hp2 HG02280.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.1468-1771C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2301919 | |||||||
chr16:2302004 | C | T | 1 | a0001c0001t0002g0214 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1468-1856G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2302004 | |||||||
chr16:2302040 | C | T | 4 | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0185 others(1): Show |
4 | HG00544.hp2 NA18962.hp2 NA19058.hp2 others(1): Show |
intron_variant | MODIFIER | c.1468-1892G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2302040 | |||||||
chr16:2302219 | G | A | 1 | a0001c0001t0002g0192 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1467+1750C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2302219 | |||||||
chr16:2302403 | G | A | 1 | a0009c0016t0001g0111 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1467+1566C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2302403 | |||||||
chr16:2302898 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1467+1071G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2302898 | |||||||
chr16:2303150 | A | G | 54 | a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0095 others(51): Show |
55 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(52): Show |
intron_variant | MODIFIER | c.1467+819T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303150 | |||||||
chr16:2303205 | T | C | 22 | a0001c0002t0001g0187 a0001c0003t0001g0148 a0001c0003t0001g0151 others(19): Show |
22 | HG01261.hp2 HG01433.hp1 HG01516.hp2 others(19): Show |
intron_variant | MODIFIER | c.1467+764A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303205 | |||||||
chr16:2303264 | CT | C | 10 | a0001c0001t0001g0072 a0001c0001t0001g0088 a0001c0001t0001g0146 others(7): Show |
10 | HG01070.hp2 HG01109.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.1467+704delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303264 | |||||||
chr16:2303294 | G | A | 1 | a0001c0002t0001g0244 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1467+675C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303294 | |||||||
chr16:2303560 | A | G | 1 | a0001c0001t0001g0074 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.1467+409T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303560 | |||||||
chr16:2303707 | A | G | 1 | a0001c0001t0001g0058 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1467+262T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303707 | |||||||
chr16:2303756 | G | T | 1 | a0001c0001t0001g0109 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1467+213C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303756 | |||||||
chr16:2303811 | C | T | 1 | a0001c0003t0001g0159 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1467+158G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303811 | |||||||
chr16:2303898 | C | G | 3 | a0001c0001t0001g0095 a0001c0001t0003g0020 a0001c0002t0001g0110 |
3 | HG00609.hp2 HG02015.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.1467+71G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | 2303898 | |||||||
chr16:2304401 | A | T | 2 | a0001c0002t0003g0023 a0001c0002t0003g0028 |
2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.1286-251T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304401 | |||||||
chr16:2304420 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1286-270G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304420 | |||||||
chr16:2304500 | C | CT | 19 | a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0082 others(16): Show |
19 | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(16): Show |
intron_variant | MODIFIER | c.1286-351dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304500 | |||||||
chr16:2304500 | CT | C | 53 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0096 others(50): Show |
53 | HG00280.hp1 HG00323.hp2 HG00642.hp2 others(50): Show |
intron_variant | MODIFIER | c.1286-351delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304500 | |||||||
chr16:2304500 | CTT | C | 6 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0003t0001g0148 others(3): Show |
6 | HG01261.hp2 HG01891.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.1286-352_1286-351d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304500 | |||||||
chr16:2304547 | C | A | 4 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0005t0001g0179 others(1): Show |
4 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1286-397G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304547 | |||||||
chr16:2304569 | C | T | 1 | a0001c0001t0005g0037 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1286-419G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304569 | |||||||
chr16:2304675 | AT | A | 5 | a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0090 others(2): Show |
5 | HG01943.hp1 HG02155.hp1 HG02735.hp1 others(2): Show |
intron_variant | MODIFIER | c.1286-526delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304675 | |||||||
chr16:2304692 | T | C | 4 | a0001c0001t0001g0092 a0001c0001t0001g0172 a0001c0001t0001g0241 others(1): Show |
4 | HG01192.hp2 HG02602.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.1286-542A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304692 | |||||||
chr16:2304725 | GA | G | 49 | a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0001g0096 others(46): Show |
50 | HG00280.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.1286-576delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304725 | |||||||
chr16:2304738 | C | T | 1 | a0001c0001t0004g0008 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1286-588G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304738 | |||||||
chr16:2304814 | T | C | 1 | a0001c0001t0002g0211 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1286-664A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304814 | |||||||
chr16:2304869 | G | A | 2 | a0001c0001t0001g0143 a0001c0001t0013g0248 |
2 | HG01515.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.1286-719C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2304869 | |||||||
chr16:2305032 | C | T | 1 | a0001c0001t0009g0085 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1286-882G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305032 | |||||||
chr16:2305109 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1286-959C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305109 | |||||||
chr16:2305274 | C | T | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1286-1124G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305274 | |||||||
chr16:2305329 | A | G | 51 | a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0088 others(48): Show |
52 | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.1286-1179T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305329 | |||||||
chr16:2305446 | G | A | 41 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(38): Show |
41 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(38): Show |
intron_variant | MODIFIER | c.1286-1296C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305446 | |||||||
chr16:2305453 | T | C | 1 | a0001c0001t0002g0192 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1286-1303A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305453 | |||||||
chr16:2305586 | C | T | 3 | a0001c0002t0001g0233 a0001c0002t0001g0245 a0001c0002t0011g0101 |
3 | HG00639.hp1 HG01515.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.1286-1436G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305586 | |||||||
chr16:2305827 | G | A | 24 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(21): Show |
24 | HG01109.hp1 HG01261.hp2 HG01433.hp1 others(21): Show |
intron_variant | MODIFIER | c.1286-1677C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305827 | |||||||
chr16:2305831 | A | C | 1 | a0001c0001t0001g0054 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1286-1681T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2305831 | |||||||
chr16:2306258 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1286-2108C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306258 | |||||||
chr16:2306544 | T | C | 43 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(40): Show |
43 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.1285+1906A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306544 | |||||||
chr16:2306604 | T | G | 1 | a0001c0003t0008g0163 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1285+1846A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306604 | |||||||
chr16:2306689 | C | T | 44 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(41): Show |
44 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(41): Show |
intron_variant | MODIFIER | c.1285+1761G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306689 | |||||||
chr16:2306823 | G | A | 241 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(238): Show |
243 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.1285+1627C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306823 | |||||||
chr16:2306932 | A | G | 3 | a0001c0004t0001g0120 a0001c0004t0001g0169 a0001c0004t0001g0170 |
3 | HG00735.hp1 HG01167.hp2 HG02683.hp1 |
intron_variant | MODIFIER | c.1285+1518T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306932 | |||||||
chr16:2306952 | T | C | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1285+1498A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306952 | |||||||
chr16:2306971 | C | T | 1 | a0005c0023t0001g0044 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1285+1479G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306971 | |||||||
chr16:2306980 | C | A | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1285+1470G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2306980 | |||||||
chr16:2307011 | C | T | 1 | a0001c0001t0001g0132 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1285+1439G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307011 | |||||||
chr16:2307016 | C | CA | 12 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0154 others(9): Show |
12 | HG01192.hp1 HG01192.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.1285+1433dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307016 | |||||||
chr16:2307016 | CA | C | 10 | a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0144 others(7): Show |
10 | HG01081.hp2 HG01109.hp1 HG02486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1285+1433delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307016 | |||||||
chr16:2307016 | CAA | C | 34 | a0001c0001t0001g0189 a0001c0001t0002g0215 a0001c0001t0008g0178 others(31): Show |
34 | HG00642.hp2 HG00735.hp1 HG01099.hp2 others(31): Show |
intron_variant | MODIFIER | c.1285+1432_1285+143 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307016 | |||||||
chr16:2307016 | CAAAAAAA others(2): Show |
C | 48 | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0002t0001g0001 others(45): Show |
49 | HG00280.hp1 HG00408.hp2 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.1285+1425_1285+143 others(13): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307016 | |||||||
chr16:2307064 | C | T | 2 | a0001c0005t0001g0048 a0001c0024t0001g0164 |
2 | HG02818.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1285+1386G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307064 | |||||||
chr16:2307071 | A | G | 86 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0184 others(83): Show |
87 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.1285+1379T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307071 | |||||||
chr16:2307107 | C | T | 86 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0184 others(83): Show |
87 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.1285+1343G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307107 | |||||||
chr16:2307150 | G | A | 1 | a0001c0003t0002g0204 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1285+1300C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307150 | |||||||
chr16:2307218 | G | A | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1285+1232C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307218 | |||||||
chr16:2307232 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1285+1218G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307232 | |||||||
chr16:2307540 | C | T | 1 | a0001c0001t0001g0055 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1285+910G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307540 | |||||||
chr16:2307562 | A | G | 2 | a0001c0001t0014g0249 a0001c0024t0001g0164 |
2 | HG02818.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1285+888T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307562 | |||||||
chr16:2307633 | C | T | 47 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(44): Show |
48 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.1285+817G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307633 | |||||||
chr16:2307671 | T | G | 1 | a0005c0023t0001g0044 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1285+779A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2307671 | |||||||
chr16:2308019 | G | A | 88 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0189 others(85): Show |
89 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(86): Show |
intron_variant | MODIFIER | c.1285+431C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2308019 | |||||||
chr16:2308116 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1285+334C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2308116 | |||||||
chr16:2308176 | C | T | 5 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0007g0002 others(2): Show |
6 | HG01891.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.1285+274G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2308176 | |||||||
chr16:2308196 | TG | T | 33 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(30): Show |
33 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.1285+253delC | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2308196 | |||||||
chr16:2308312 | C | T | 17 | a0001c0001t0001g0189 a0001c0004t0001g0053 a0001c0004t0001g0057 others(14): Show |
17 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(14): Show |
intron_variant | MODIFIER | c.1285+138G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 11/32 | chr16 | 2308312 | |||||||
chr16:2308759 | G | A | 88 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0189 others(85): Show |
89 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(86): Show |
intron_variant | MODIFIER | c.1112-136C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2308759 | |||||||
chr16:2308984 | C | T | 1 | a0001c0001t0001g0112 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1112-361G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2308984 | |||||||
chr16:2308998 | T | G | 1 | a0001c0024t0001g0164 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1112-375A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2308998 | |||||||
chr16:2309071 | G | C | 1 | a0001c0007t0001g0140 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.1112-448C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309071 | |||||||
chr16:2309106 | C | T | 3 | a0001c0001t0004g0008 a0001c0005t0001g0048 a0001c0025t0001g0043 |
3 | HG02717.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1112-483G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309106 | |||||||
chr16:2309159 | G | T | 47 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(44): Show |
48 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.1112-536C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309159 | |||||||
chr16:2309190 | C | T | 1 | a0001c0001t0001g0236 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.1112-567G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309190 | |||||||
chr16:2309226 | G | A | 2 | a0001c0001t0001g0128 a0001c0001t0001g0129 |
2 | HG06807.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1112-603C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309226 | |||||||
chr16:2309489 | C | T | 1 | a0001c0001t0002g0214 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1112-866G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309489 | |||||||
chr16:2309767 | G | A | 46 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(43): Show |
47 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.1112-1144C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309767 | |||||||
chr16:2309813 | T | C | 1 | a0001c0001t0002g0207 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1112-1190A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309813 | |||||||
chr16:2309886 | T | C | 46 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(43): Show |
47 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.1112-1263A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309886 | |||||||
chr16:2309922 | C | T | 3 | a0001c0001t0004g0008 a0001c0005t0001g0048 a0001c0025t0001g0043 |
3 | HG02717.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1112-1299G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2309922 | |||||||
chr16:2310098 | C | T | 88 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0189 others(85): Show |
89 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(86): Show |
intron_variant | MODIFIER | c.1112-1475G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310098 | |||||||
chr16:2310124 | G | A | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1112-1501C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310124 | |||||||
chr16:2310128 | G | A | 1 | a0001c0001t0003g0015 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1112-1505C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310128 | |||||||
chr16:2310249 | CA | C | 47 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(44): Show |
48 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.1112-1627delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310249 | |||||||
chr16:2310281 | G | A | 1 | a0001c0002t0001g0060 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1112-1658C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310281 | |||||||
chr16:2310427 | A | C | 2 | a0001c0003t0002g0209 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.1112-1804T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310427 | |||||||
chr16:2310427 | AAAAC | A | 37 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(34): Show |
37 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1112-1808_1112-180 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310427 | |||||||
chr16:2310455 | A | C | 1 | a0001c0024t0001g0164 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1112-1832T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310455 | |||||||
chr16:2310555 | C | A | 1 | a0001c0002t0001g0125 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.1112-1932G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310555 | |||||||
chr16:2310556 | G | A | 9 | a0001c0003t0001g0226 a0001c0003t0001g0227 a0001c0003t0002g0190 others(6): Show |
9 | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1112-1933C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310556 | |||||||
chr16:2310598 | C | T | 3 | a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0003g0015 |
3 | HG00609.hp1 NA19057.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.1112-1975G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310598 | |||||||
chr16:2310612 | G | T | 37 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(34): Show |
37 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1112-1989C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310612 | |||||||
chr16:2310654 | C | G | 1 | a0001c0001t0007g0002 | 2 | HG03041.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1112-2031G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2310654 | |||||||
chr16:2311111 | C | T | 1 | a0001c0003t0001g0240 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1112-2488G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2311111 | |||||||
chr16:2311263 | C | T | 47 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(44): Show |
48 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(45): Show |
intron_variant | MODIFIER | c.1112-2640G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2311263 | |||||||
chr16:2311415 | C | T | 4 | a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0241 others(1): Show |
4 | HG00642.hp1 HG01192.hp2 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.1112-2792G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2311415 | |||||||
chr16:2311554 | G | A | 1 | a0001c0001t0003g0013 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1112-2931C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2311554 | |||||||
chr16:2311771 | C | T | 32 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(29): Show |
32 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(29): Show |
intron_variant | MODIFIER | c.1112-3148G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2311771 | |||||||
chr16:2311772 | G | A | 1 | a0001c0006t0004g0005 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1112-3149C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2311772 | |||||||
chr16:2312531 | CT | C | 87 | a0001c0001t0001g0072 a0001c0001t0001g0112 a0001c0001t0001g0146 others(84): Show |
88 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.1112-3909delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2312531 | |||||||
chr16:2312653 | C | T | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1112-4030G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2312653 | |||||||
chr16:2312695 | A | T | 3 | a0001c0001t0004g0008 a0001c0005t0001g0048 a0001c0025t0001g0043 |
3 | HG02717.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1112-4072T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2312695 | |||||||
chr16:2313002 | T | C | 1 | a0001c0002t0001g0182 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1111+4281A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313002 | |||||||
chr16:2313478 | A | C | 1 | a0001c0001t0001g0099 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1111+3805T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313478 | |||||||
chr16:2313552 | C | CA | 23 | a0001c0001t0001g0034 a0001c0001t0001g0071 a0001c0001t0001g0092 others(20): Show |
24 | HG00323.hp1 HG00597.hp2 HG00642.hp1 others(21): Show |
intron_variant | MODIFIER | c.1111+3730dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313552 | |||||||
chr16:2313552 | CA | C | 12 | a0001c0001t0001g0072 a0001c0001t0001g0158 a0001c0001t0001g0176 others(9): Show |
12 | HG01070.hp2 HG01167.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.1111+3730delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313552 | |||||||
chr16:2313552 | CAA | C | 30 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(27): Show |
30 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(27): Show |
intron_variant | MODIFIER | c.1111+3729_1111+373 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313552 | |||||||
chr16:2313572 | A | T | 2 | a0001c0001t0002g0198 a0001c0001t0002g0220 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1111+3711T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313572 | |||||||
chr16:2313662 | T | C | 1 | a0001c0001t0001g0054 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1111+3621A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313662 | |||||||
chr16:2313670 | G | A | 1 | a0001c0001t0004g0008 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1111+3613C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313670 | |||||||
chr16:2313733 | G | A | 3 | a0001c0001t0004g0008 a0001c0005t0001g0048 a0001c0025t0001g0043 |
3 | HG02717.hp1 HG03098.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1111+3550C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313733 | |||||||
chr16:2313763 | C | T | 38 | a0001c0001t0001g0052 a0001c0001t0001g0146 a0001c0001t0001g0189 others(35): Show |
38 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.1111+3520G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313763 | |||||||
chr16:2313836 | A | G | 1 | a0001c0001t0001g0188 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1111+3447T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313836 | |||||||
chr16:2313842 | C | T | 2 | a0001c0003t0002g0209 a0012c0015t0001g0186 |
2 | HG02809.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1111+3441G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313842 | |||||||
chr16:2313891 | C | CA | 31 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(28): Show |
31 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(28): Show |
intron_variant | MODIFIER | c.1111+3391dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2313891 | |||||||
chr16:2314050 | C | G | 86 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0189 others(83): Show |
87 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.1111+3233G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314050 | |||||||
chr16:2314231 | A | G | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1111+3052T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314231 | |||||||
chr16:2314257 | GC | G | 87 | a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0189 others(84): Show |
88 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(85): Show |
intron_variant | MODIFIER | c.1111+3025delG | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314257 | |||||||
chr16:2314402 | C | T | 6 | a0001c0001t0001g0146 a0001c0001t0002g0215 a0001c0001t0008g0178 others(3): Show |
6 | HG01109.hp1 HG02486.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1111+2881G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314402 | |||||||
chr16:2314467 | G | C | 33 | a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0215 others(30): Show |
33 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.1111+2816C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314467 | |||||||
chr16:2314499 | G | A | 1 | a0001c0001t0001g0091 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1111+2784C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314499 | |||||||
chr16:2314580 | A | AT | 65 | a0001c0001t0001g0112 a0001c0001t0004g0008 a0001c0002t0001g0001 others(62): Show |
66 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(63): Show |
intron_variant | MODIFIER | c.1111+2702dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314580 | |||||||
chr16:2314872 | C | CT | 38 | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0062 others(35): Show |
38 | HG00408.hp1 HG00544.hp2 HG00639.hp1 others(35): Show |
intron_variant | MODIFIER | c.1111+2410dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314872 | |||||||
chr16:2314872 | CT | C | 5 | a0001c0001t0001g0235 a0001c0001t0003g0020 a0001c0001t0003g0027 others(2): Show |
5 | HG02148.hp2 HG02280.hp1 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111+2410delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314872 | |||||||
chr16:2314895 | T | C | 1 | a0001c0003t0008g0163 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1111+2388A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2314895 | |||||||
chr16:2315002 | C | T | 1 | a0001c0001t0001g0035 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1111+2281G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315002 | |||||||
chr16:2315022 | T | A | 2 | a0001c0003t0002g0209 a0012c0015t0001g0186 |
2 | HG02809.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1111+2261A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315022 | |||||||
chr16:2315052 | AT | A | 55 | a0001c0001t0001g0112 a0001c0002t0001g0001 a0001c0002t0001g0045 others(52): Show |
56 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.1111+2230delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315052 | |||||||
chr16:2315164 | T | C | 2 | a0001c0001t0002g0211 a0001c0001t0002g0212 |
2 | HG02886.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1111+2119A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315164 | |||||||
chr16:2315196 | T | C | 1 | a0001c0001t0003g0011 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1111+2087A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315196 | |||||||
chr16:2315203 | T | TAC | 30 | a0001c0001t0001g0059 a0001c0001t0001g0084 a0001c0001t0001g0090 others(27): Show |
30 | HG00642.hp1 HG00735.hp1 HG00738.hp1 others(27): Show |
intron_variant | MODIFIER | c.1111+2078_1111+207 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315203 | |||||||
chr16:2315203 | T | TACAC | 20 | a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0107 others(17): Show |
20 | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(17): Show |
intron_variant | MODIFIER | c.1111+2076_1111+207 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315203 | |||||||
chr16:2315203 | T | TACACAC | 7 | a0001c0001t0001g0143 a0001c0001t0001g0185 a0001c0003t0002g0209 others(4): Show |
7 | HG00544.hp2 HG01433.hp2 HG01496.hp1 others(4): Show |
intron_variant | MODIFIER | c.1111+2074_1111+207 others(10): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315203 | |||||||
chr16:2315203 | TAC | T | 13 | a0001c0001t0001g0062 a0001c0001t0001g0093 a0001c0001t0002g0192 others(10): Show |
13 | HG01081.hp2 HG01192.hp1 HG02486.hp1 others(10): Show |
intron_variant | MODIFIER | c.1111+2078_1111+207 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315203 | |||||||
chr16:2315203 | TACAC | T | 11 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(8): Show |
11 | HG00408.hp1 HG02135.hp2 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.1111+2076_1111+207 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315203 | |||||||
chr16:2315238 | A | ACACG | 5 | a0001c0002t0001g0108 a0001c0002t0003g0017 a0001c0006t0004g0004 others(2): Show |
5 | HG02280.hp1 HG03453.hp2 HG03486.hp2 others(2): Show |
intron_variant | MODIFIER | c.1111+2044_1111+204 others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315238 | |||||||
chr16:2315238 | A | G | 43 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(40): Show |
44 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1111+2045T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315238 | |||||||
chr16:2315243 | C | G | 2 | a0001c0001t0001g0132 a0001c0002t0001g0187 |
2 | HG02486.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.1111+2040G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315243 | |||||||
chr16:2315287 | G | T | 52 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(49): Show |
53 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1111+1996C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315287 | |||||||
chr16:2315463 | G | A | 2 | a0001c0004t0001g0120 a0001c0004t0001g0170 |
2 | HG00735.hp1 HG01167.hp2 |
intron_variant | MODIFIER | c.1111+1820C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315463 | |||||||
chr16:2315574 | G | GT | 146 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(143): Show |
147 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(144): Show |
intron_variant | MODIFIER | c.1111+1708dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315574 | |||||||
chr16:2315597 | C | G | 1 | a0001c0001t0001g0185 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1111+1686G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315597 | |||||||
chr16:2315703 | C | A | 52 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(49): Show |
53 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1111+1580G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315703 | |||||||
chr16:2315763 | A | G | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1111+1520T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315763 | |||||||
chr16:2315839 | C | CT | 20 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0071 others(17): Show |
20 | HG01433.hp1 HG01433.hp2 HG01516.hp2 others(17): Show |
intron_variant | MODIFIER | c.1111+1443dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315839 | |||||||
chr16:2315839 | CT | C | 5 | a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0002g0217 others(2): Show |
5 | HG00323.hp2 HG02698.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111+1443delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315839 | |||||||
chr16:2315839 | CTTT | C | 48 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(45): Show |
49 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.1111+1441_1111+144 others(7): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315839 | |||||||
chr16:2315839 | CTTTTTTT | C | 5 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 others(2): Show |
5 | HG01515.hp2 HG02300.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.1111+1437_1111+144 others(11): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2315839 | |||||||
chr16:2316086 | G | A | 5 | a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 others(2): Show |
5 | HG01071.hp1 HG02818.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111+1197C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316086 | |||||||
chr16:2316140 | G | GA | 5 | a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0002g0200 others(2): Show |
5 | HG00544.hp1 HG01952.hp2 HG02055.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111+1142dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316140 | |||||||
chr16:2316140 | GA | G | 8 | a0001c0001t0001g0090 a0001c0001t0001g0238 a0001c0001t0003g0015 others(5): Show |
8 | HG00323.hp2 HG01167.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.1111+1142delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316140 | |||||||
chr16:2316140 | GAAA | G | 49 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(46): Show |
50 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.1111+1140_1111+114 others(7): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316140 | |||||||
chr16:2316257 | C | T | 84 | a0001c0001t0001g0189 a0001c0001t0004g0008 a0001c0002t0001g0001 others(81): Show |
85 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(82): Show |
intron_variant | MODIFIER | c.1111+1026G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316257 | |||||||
chr16:2316290 | C | A | 10 | a0001c0001t0001g0167 a0001c0001t0002g0193 a0001c0001t0002g0194 others(7): Show |
10 | HG01071.hp1 HG02055.hp2 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.1111+993G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316290 | |||||||
chr16:2316308 | CA | C | 52 | a0001c0001t0001g0130 a0001c0001t0002g0220 a0001c0002t0001g0001 others(49): Show |
53 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1111+974delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316308 | |||||||
chr16:2316322 | AAGAAAAA others(7): Show |
A | 1 | a0001c0003t0002g0190 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1111+947_1111+960d others(16): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316322 | |||||||
chr16:2316324 | GAAAAAAG others(6): Show |
G | 10 | a0001c0001t0001g0234 a0001c0001t0001g0242 a0001c0003t0001g0226 others(7): Show |
10 | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.1111+946_1111+958d others(15): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316324 | |||||||
chr16:2316331 | G | T | 51 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(48): Show |
52 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.1111+952C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316331 | |||||||
chr16:2316337 | A | G | 1 | a0001c0003t0002g0190 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1111+946T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316337 | |||||||
chr16:2316469 | A | T | 1 | a0001c0001t0002g0217 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1111+814T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316469 | |||||||
chr16:2316476 | C | T | 1 | a0001c0002t0001g0065 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1111+807G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316476 | |||||||
chr16:2316490 | C | CA | 34 | a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0001g0055 others(31): Show |
34 | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.1111+792dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | C | CAA | 72 | a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0066 others(69): Show |
73 | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.1111+791_1111+792d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | C | CAAA | 18 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0079 others(15): Show |
18 | HG00323.hp1 HG00544.hp2 HG01516.hp1 others(15): Show |
intron_variant | MODIFIER | c.1111+790_1111+792d others(5): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | C | CAAAA | 5 | a0001c0001t0001g0127 a0001c0001t0001g0154 a0001c0001t0001g0188 others(2): Show |
5 | HG02602.hp1 HG02922.hp1 NA18612.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111+789_1111+792d others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | C | CAAAAAA | 6 | a0001c0001t0001g0076 a0001c0001t0001g0099 a0001c0001t0001g0143 others(3): Show |
6 | HG01109.hp2 HG02602.hp2 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.1111+787_1111+792d others(8): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CA | C | 8 | a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0002g0192 others(5): Show |
8 | HG00735.hp1 HG01516.hp2 HG01517.hp2 others(5): Show |
intron_variant | MODIFIER | c.1111+792delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAA | C | 9 | a0001c0003t0001g0160 a0001c0004t0001g0067 a0001c0004t0001g0080 others(6): Show |
9 | HG00642.hp2 HG01123.hp2 HG01167.hp2 others(6): Show |
intron_variant | MODIFIER | c.1111+791_1111+792d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAA | C | 12 | a0001c0001t0004g0008 a0001c0003t0001g0226 a0001c0003t0001g0227 others(9): Show |
12 | HG00323.hp2 HG01081.hp2 HG01099.hp2 others(9): Show |
intron_variant | MODIFIER | c.1111+790_1111+792d others(5): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAA | C | 7 | a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 others(4): Show |
7 | HG01884.hp2 HG02258.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.1111+789_1111+792d others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(3): Show |
C | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1111+783_1111+792d others(12): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0002g0191 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1111+782_1111+792d others(13): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(5): Show |
C | 1 | a0001c0003t0002g0209 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1111+781_1111+792d others(14): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(7): Show |
C | 1 | a0003c0014t0001g0098 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1111+779_1111+792d others(16): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(11): Show |
C | 1 | a0001c0001t0003g0020 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1111+775_1111+792d others(20): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(12): Show |
C | 3 | a0001c0001t0001g0235 a0001c0002t0003g0016 a0001c0002t0003g0019 |
3 | HG01255.hp2 NA18948.hp2 NA18966.hp2 |
intron_variant | MODIFIER | c.1111+774_1111+792d others(21): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(13): Show |
C | 46 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(43): Show |
47 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(44): Show |
intron_variant | MODIFIER | c.1111+773_1111+792d others(22): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316490 | CAAAAAAA others(14): Show |
C | 2 | a0001c0002t0001g0108 a0001c0002t0001g0245 |
2 | HG01515.hp1 NA18953.hp2 |
intron_variant | MODIFIER | c.1111+772_1111+792d others(23): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316490 | |||||||
chr16:2316539 | G | A | 52 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(49): Show |
53 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1111+744C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316539 | |||||||
chr16:2316546 | C | T | 2 | a0001c0001t0002g0207 a0001c0009t0001g0049 |
2 | HG03139.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1111+737G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316546 | |||||||
chr16:2316572 | A | G | 52 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(49): Show |
53 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.1111+711T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316572 | |||||||
chr16:2316748 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1111+535C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316748 | |||||||
chr16:2316752 | C | G | 2 | a0001c0001t0001g0093 a0001c0001t0001g0177 |
2 | HG03492.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.1111+531G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316752 | |||||||
chr16:2316945 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1111+338T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2316945 | |||||||
chr16:2317189 | C | T | 2 | a0001c0001t0001g0126 a0001c0001t0001g0239 |
2 | HG00099.hp2 HG00280.hp2 |
intron_variant | MODIFIER | c.1111+94G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2317189 | |||||||
chr16:2317225 | C | T | 2 | a0001c0003t0002g0209 a0012c0015t0001g0186 |
2 | HG02809.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1111+58G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | 2317225 | |||||||
chr16:2317423 | G | A | 52 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(49): Show |
53 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(50): Show |
intron_variant | MODIFIER | c.991-20C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 9/32 | chr16 | 2317423 | |||||||
chr16:2317444 | G | C | 13 | a0001c0001t0001g0146 a0001c0001t0002g0206 a0001c0001t0002g0213 others(10): Show |
14 | HG00639.hp2 HG01109.hp1 HG01243.hp2 others(11): Show |
intron_variant | MODIFIER | c.991-41C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 9/32 | chr16 | 2317444 | |||||||
chr16:2317508 | G | T | 26 | a0001c0001t0001g0189 a0001c0003t0001g0160 a0001c0003t0001g0226 others(23): Show |
26 | HG00323.hp2 HG00642.hp2 HG01081.hp2 others(23): Show |
intron_variant | MODIFIER | c.991-105C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 9/32 | chr16 | 2317508 | |||||||
chr16:2317634 | G | A | 4 | a0001c0002t0001g0117 a0001c0002t0003g0016 a0001c0002t0003g0023 others(1): Show |
4 | HG01070.hp2 HG01071.hp2 HG01255.hp2 others(1): Show |
intron_variant | MODIFIER | c.990+14C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 9/32 | chr16 | 2317634 | |||||||
chr16:2317784 | C | T | 1 | a0001c0004t0001g0118 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.874-20G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2317784 | |||||||
chr16:2317877 | C | T | 38 | a0001c0001t0001g0189 a0001c0001t0001g0219 a0001c0001t0001g0234 others(35): Show |
38 | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(35): Show |
intron_variant | MODIFIER | c.874-113G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2317877 | |||||||
chr16:2317896 | C | T | 1 | a0001c0001t0001g0066 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.874-132G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2317896 | |||||||
chr16:2318141 | A | T | 49 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(46): Show |
50 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.874-377T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318141 | |||||||
chr16:2318159 | T | A | 2 | a0001c0001t0001g0126 a0001c0001t0001g0239 |
2 | HG00099.hp2 HG00280.hp2 |
intron_variant | MODIFIER | c.874-395A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318159 | |||||||
chr16:2318168 | G | A | 49 | a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(46): Show |
50 | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(47): Show |
intron_variant | MODIFIER | c.874-404C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318168 | |||||||
chr16:2318342 | C | T | 1 | a0001c0002t0001g0187 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.874-578G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318342 | |||||||
chr16:2318419 | C | G | 52 | a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0113 others(49): Show |
52 | HG00408.hp2 HG00621.hp1 HG00639.hp1 others(49): Show |
intron_variant | MODIFIER | c.874-655G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318419 | |||||||
chr16:2318438 | G | A | 1 | a0001c0001t0004g0008 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.874-674C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318438 | |||||||
chr16:2318443 | C | T | 8 | a0001c0003t0001g0226 a0001c0003t0002g0190 a0001c0003t0002g0201 others(5): Show |
8 | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.874-679G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318443 | |||||||
chr16:2318444 | G | A | 1 | a0001c0001t0001g0078 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.874-680C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318444 | |||||||
chr16:2318447 | T | C | 2 | a0001c0002t0001g0187 a0001c0003t0004g0003 |
2 | HG02486.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.874-683A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318447 | |||||||
chr16:2318850 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.873+731C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318850 | |||||||
chr16:2318851 | C | T | 5 | a0001c0001t0001g0130 a0001c0001t0001g0231 a0001c0001t0003g0020 others(2): Show |
5 | HG02015.hp1 HG02135.hp2 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.873+730G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318851 | |||||||
chr16:2318956 | CT | C | 16 | a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0002g0192 others(13): Show |
16 | HG01167.hp1 HG01169.hp2 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.873+624delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2318956 | |||||||
chr16:2319070 | T | C | 27 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 others(24): Show |
27 | HG01071.hp1 HG01884.hp2 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.873+511A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319070 | |||||||
chr16:2319183 | T | C | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.873+398A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319183 | |||||||
chr16:2319191 | T | G | 1 | a0001c0001t0001g0127 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.873+390A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319191 | |||||||
chr16:2319204 | G | A | 4 | a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0005t0006g0038 others(1): Show |
4 | HG02809.hp1 NA18942.hp1 NA18946.hp2 others(1): Show |
intron_variant | MODIFIER | c.873+377C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319204 | |||||||
chr16:2319271 | G | T | 12 | a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0002g0191 others(9): Show |
12 | HG01109.hp1 HG01261.hp2 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.873+310C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319271 | |||||||
chr16:2319281 | T | C | 1 | a0001c0001t0001g0056 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.873+300A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319281 | |||||||
chr16:2319329 | C | CA | 5 | a0001c0001t0001g0092 a0001c0001t0001g0154 a0001c0001t0001g0172 others(2): Show |
5 | HG01192.hp2 HG02602.hp1 HG02602.hp2 others(2): Show |
intron_variant | MODIFIER | c.873+251dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319329 | |||||||
chr16:2319378 | G | A | 1 | a0001c0002t0001g0108 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.873+203C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319378 | |||||||
chr16:2319402 | G | A | 2 | a0001c0001t0002g0207 a0001c0026t0002g0208 |
2 | HG00639.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.873+179C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319402 | |||||||
chr16:2319409 | C | T | 7 | a0001c0001t0001g0189 a0001c0001t0004g0008 a0001c0001t0008g0178 others(4): Show |
7 | HG01891.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.873+172G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319409 | |||||||
chr16:2319463 | C | T | 1 | a0001c0001t0003g0009 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.873+118G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319463 | |||||||
chr16:2319471 | C | A | 4 | a0001c0001t0001g0167 a0001c0003t0001g0227 a0001c0006t0001g0165 others(1): Show |
4 | HG02257.hp2 HG02818.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.873+110G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319471 | |||||||
chr16:2319481 | A | T | 4 | a0001c0001t0001g0167 a0001c0003t0001g0227 a0001c0006t0001g0165 others(1): Show |
4 | HG02257.hp2 HG02818.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.873+100T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319481 | |||||||
chr16:2319484 | C | CA | 182 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(179): Show |
184 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(181): Show |
intron_variant | MODIFIER | c.873+96dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319484 | |||||||
chr16:2319514 | C | T | 1 | a0001c0001t0008g0178 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.873+67G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319514 | |||||||
chr16:2319571 | G | A | 1 | a0001c0001t0001g0230 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.873+10C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 8/32 | chr16 | 2319571 | |||||||
chr16:2319849 | G | A | 1 | a0001c0003t0001g0226 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.614-9C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2319849 | |||||||
chr16:2319969 | C | A | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.614-129G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2319969 | |||||||
chr16:2319980 | A | G | 1 | a0001c0001t0001g0183 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.614-140T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2319980 | |||||||
chr16:2320025 | C | A | 1 | a0001c0001t0001g0127 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.614-185G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320025 | |||||||
chr16:2320038 | A | T | 216 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(213): Show |
218 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(215): Show |
intron_variant | MODIFIER | c.614-198T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320038 | |||||||
chr16:2320155 | G | C | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.614-315C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320155 | |||||||
chr16:2320160 | G | A | 1 | a0001c0001t0003g0027 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.614-320C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320160 | |||||||
chr16:2320201 | C | G | 2 | a0001c0001t0001g0055 a0001c0002t0001g0108 |
2 | NA18953.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.614-361G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320201 | |||||||
chr16:2320236 | C | T | 1 | a0001c0006t0001g0165 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.614-396G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320236 | |||||||
chr16:2320397 | C | CT | 6 | a0001c0001t0001g0092 a0001c0001t0014g0249 a0001c0002t0001g0142 others(3): Show |
6 | HG01192.hp1 HG02040.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.614-558dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320397 | |||||||
chr16:2320450 | C | T | 11 | a0001c0001t0001g0219 a0001c0001t0010g0224 a0001c0003t0001g0226 others(8): Show |
11 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.614-610G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320450 | |||||||
chr16:2320697 | T | A | 7 | a0001c0001t0002g0199 a0001c0001t0004g0006 a0001c0001t0004g0008 others(4): Show |
7 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.614-857A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320697 | |||||||
chr16:2320968 | C | T | 1 | a0001c0001t0001g0188 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.614-1128G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320968 | |||||||
chr16:2320985 | C | CT | 181 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(178): Show |
183 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(180): Show |
intron_variant | MODIFIER | c.614-1146dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320985 | |||||||
chr16:2320985 | C | CTT | 9 | a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0002g0199 others(6): Show |
9 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.614-1147_614-1146d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2320985 | |||||||
chr16:2321025 | G | A | 1 | a0001c0001t0001g0079 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.614-1185C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2321025 | |||||||
chr16:2321066 | A | G | 1 | a0001c0005t0006g0038 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.614-1226T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2321066 | |||||||
chr16:2321503 | G | T | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.614-1663C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2321503 | |||||||
chr16:2321810 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.613+1713G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2321810 | |||||||
chr16:2321954 | C | G | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.613+1569G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2321954 | |||||||
chr16:2322013 | C | T | 2 | a0001c0007t0001g0137 a0001c0007t0001g0174 |
2 | HG00642.hp2 HG01099.hp2 |
intron_variant | MODIFIER | c.613+1510G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322013 | |||||||
chr16:2322027 | G | A | 2 | a0001c0001t0001g0034 a0001c0001t0001g0035 |
2 | HG01496.hp2 HG01943.hp2 |
intron_variant | MODIFIER | c.613+1496C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322027 | |||||||
chr16:2322067 | G | A | 4 | a0001c0001t0004g0006 a0001c0006t0004g0004 a0001c0006t0004g0005 others(1): Show |
4 | HG02280.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.613+1456C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322067 | |||||||
chr16:2322153 | G | A | 3 | a0001c0001t0001g0188 a0001c0004t0001g0223 a0001c0009t0001g0049 |
3 | HG03516.hp2 NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.613+1370C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322153 | |||||||
chr16:2322182 | G | C | 3 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0007g0002 |
4 | HG03041.hp2 HG03453.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.613+1341C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322182 | |||||||
chr16:2322246 | G | C | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.613+1277C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322246 | |||||||
chr16:2322390 | T | A | 1 | a0001c0009t0001g0047 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.613+1133A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322390 | |||||||
chr16:2322416 | G | A | 188 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(185): Show |
190 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(187): Show |
intron_variant | MODIFIER | c.613+1107C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322416 | |||||||
chr16:2322530 | G | GC | 37 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 others(34): Show |
37 | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(34): Show |
intron_variant | MODIFIER | c.613+992dupG | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322530 | |||||||
chr16:2322768 | G | C | 211 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(208): Show |
213 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(210): Show |
intron_variant | MODIFIER | c.613+755C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322768 | |||||||
chr16:2322813 | T | A | 8 | a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 others(5): Show |
8 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.613+710A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322813 | |||||||
chr16:2322836 | A | G | 215 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(212): Show |
217 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(214): Show |
intron_variant | MODIFIER | c.613+687T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322836 | |||||||
chr16:2322866 | G | C | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.613+657C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322866 | |||||||
chr16:2322934 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.613+589G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322934 | |||||||
chr16:2322979 | C | T | 5 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.613+544G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2322979 | |||||||
chr16:2323233 | G | T | 2 | a0001c0002t0001g0045 a0001c0002t0001g0046 |
2 | NA18942.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.613+290C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323233 | |||||||
chr16:2323274 | A | G | 1 | a0006c0012t0001g0041 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.613+249T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323274 | |||||||
chr16:2323365 | T | C | 1 | a0001c0001t0009g0085 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.613+158A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323365 | |||||||
chr16:2323414 | T | C | 3 | a0001c0002t0001g0001 a0001c0002t0001g0061 a0001c0002t0001g0086 |
4 | HG01928.hp1 HG02148.hp2 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.613+109A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323414 | |||||||
chr16:2323426 | C | A | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.613+97G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323426 | |||||||
chr16:2323483 | A | C | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.613+40T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323483 | |||||||
chr16:2323487 | C | T | 1 | a0001c0001t0001g0064 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.613+36G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 7/32 | chr16 | 2323487 | |||||||
chr16:2323771 | G | A | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.448-83C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323771 | |||||||
chr16:2323785 | C | A | 190 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(187): Show |
192 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(189): Show |
intron_variant | MODIFIER | c.448-97G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323785 | |||||||
chr16:2323824 | C | A | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.448-136G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323824 | |||||||
chr16:2323896 | G | T | 2 | a0001c0001t0001g0188 a0001c0004t0001g0223 |
2 | NA19030.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.448-208C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323896 | |||||||
chr16:2323926 | T | A | 9 | a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 others(6): Show |
9 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.448-238A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323926 | |||||||
chr16:2323940 | C | T | 2 | a0001c0002t0003g0017 a0001c0002t0003g0019 |
2 | NA18966.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.448-252G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323940 | |||||||
chr16:2323965 | C | T | 2 | a0001c0002t0001g0060 a0001c0002t0001g0063 |
2 | HG02015.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.448-277G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2323965 | |||||||
chr16:2324182 | A | G | 1 | a0001c0001t0003g0029 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.447+222T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2324182 | |||||||
chr16:2324204 | G | A | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.447+200C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2324204 | |||||||
chr16:2324285 | T | C | 213 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(210): Show |
215 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(212): Show |
intron_variant | MODIFIER | c.447+119A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2324285 | |||||||
chr16:2324393 | G | A | 1 | a0001c0002t0001g0156 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.447+11C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 6/32 | chr16 | 2324393 | |||||||
chr16:2324548 | C | T | 1 | a0001c0001t0001g0109 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.320-17G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324548 | |||||||
chr16:2324611 | C | A | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.320-80G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324611 | |||||||
chr16:2324623 | G | A | 2 | a0001c0001t0001g0087 a0001c0001t0001g0177 |
2 | HG03492.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.320-92C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324623 | |||||||
chr16:2324761 | T | C | 1 | a0001c0009t0001g0049 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.320-230A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324761 | |||||||
chr16:2324887 | T | C | 1 | a0001c0001t0001g0107 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.320-356A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324887 | |||||||
chr16:2324895 | C | G | 214 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(211): Show |
216 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(213): Show |
intron_variant | MODIFIER | c.320-364G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324895 | |||||||
chr16:2324982 | T | C | 1 | a0001c0001t0001g0088 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.320-451A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324982 | |||||||
chr16:2324984 | G | T | 11 | a0001c0001t0001g0143 a0001c0005t0001g0042 a0001c0005t0001g0048 others(8): Show |
11 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.320-453C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2324984 | |||||||
chr16:2325030 | A | G | 4 | a0001c0001t0001g0189 a0001c0001t0014g0249 a0001c0002t0001g0187 others(1): Show |
4 | HG02486.hp2 HG02622.hp1 NA20129.hp1 others(1): Show |
intron_variant | MODIFIER | c.320-499T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2325030 | |||||||
chr16:2325095 | C | T | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.320-564G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2325095 | |||||||
chr16:2325259 | T | C | 1 | a0001c0001t0014g0249 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.320-728A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2325259 | |||||||
chr16:2325523 | G | T | 209 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(206): Show |
211 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(208): Show |
intron_variant | MODIFIER | c.319+487C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2325523 | |||||||
chr16:2325884 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.319+126C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2325884 | |||||||
chr16:2325960 | C | T | 187 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(184): Show |
188 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(185): Show |
intron_variant | MODIFIER | c.319+50G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 5/32 | chr16 | 2325960 | |||||||
chr16:2326348 | A | G | 1 | a0001c0001t0001g0143 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.54+65T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 4/32 | chr16 | 2326348 | |||||||
chr16:2326362 | G | A | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.54+51C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 4/32 | chr16 | 2326362 | |||||||
chr16:2326645 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-26-153C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326645 | |||||||
chr16:2326705 | T | C | 209 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(206): Show |
210 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show |
intron_variant | MODIFIER | c.-26-213A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326705 | |||||||
chr16:2326743 | T | C | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-26-251A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326743 | |||||||
chr16:2326825 | T | A | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-26-333A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326825 | |||||||
chr16:2326860 | C | T | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-26-368G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326860 | |||||||
chr16:2326880 | C | T | 2 | a0001c0001t0002g0207 a0001c0026t0002g0208 |
2 | HG00639.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-26-388G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326880 | |||||||
chr16:2326906 | T | G | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-26-414A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326906 | |||||||
chr16:2326924 | G | A | 3 | a0001c0005t0001g0048 a0001c0009t0001g0047 a0001c0009t0001g0049 |
3 | HG01884.hp1 HG03098.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-26-432C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326924 | |||||||
chr16:2326980 | A | G | 188 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(185): Show |
190 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(187): Show |
intron_variant | MODIFIER | c.-26-488T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326980 | |||||||
chr16:2326986 | C | T | 210 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(207): Show |
212 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.-26-494G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2326986 | |||||||
chr16:2327213 | T | C | 214 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(211): Show |
216 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(213): Show |
intron_variant | MODIFIER | c.-26-721A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327213 | |||||||
chr16:2327329 | C | T | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-26-837G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327329 | |||||||
chr16:2327348 | T | C | 210 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(207): Show |
212 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.-26-856A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327348 | |||||||
chr16:2327507 | T | C | 210 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(207): Show |
212 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(209): Show |
intron_variant | MODIFIER | c.-27+946A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327507 | |||||||
chr16:2327542 | G | A | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-27+911C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327542 | |||||||
chr16:2327543 | A | G | 38 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(35): Show |
38 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.-27+910T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327543 | |||||||
chr16:2327590 | G | A | 3 | a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0172 |
3 | HG00642.hp1 HG03239.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.-27+863C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327590 | |||||||
chr16:2327690 | C | A | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-27+763G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327690 | |||||||
chr16:2327989 | G | A | 2 | a0001c0001t0001g0055 a0001c0002t0001g0108 |
2 | NA18953.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.-27+464C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2327989 | |||||||
chr16:2328024 | A | G | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-27+429T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328024 | |||||||
chr16:2328049 | C | T | 5 | a0001c0001t0001g0143 a0001c0005t0001g0179 a0001c0005t0001g0180 others(2): Show |
5 | HG01891.hp2 HG02300.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.-27+404G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328049 | |||||||
chr16:2328051 | A | C | 8 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 others(5): Show |
8 | HG01167.hp1 HG01169.hp2 HG01258.hp1 others(5): Show |
intron_variant | MODIFIER | c.-27+402T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328051 | |||||||
chr16:2328075 | T | C | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-27+378A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328075 | |||||||
chr16:2328124 | G | GA | 40 | a0001c0001t0001g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 others(37): Show |
41 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.-27+328dupT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328124 | |||||||
chr16:2328153 | A | G | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-27+300T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328153 | |||||||
chr16:2328220 | T | C | 1 | a0001c0001t0001g0219 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-27+233A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328220 | |||||||
chr16:2328295 | C | T | 5 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-27+158G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328295 | |||||||
chr16:2328443 | A | T | 6 | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show |
6 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27+10T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 3/32 | chr16 | 2328443 | |||||||
chr16:2328890 | G | A | 5 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-331-133C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2328890 | |||||||
chr16:2328892 | G | A | 8 | a0001c0001t0001g0138 a0001c0002t0001g0182 a0001c0007t0001g0137 others(5): Show |
8 | HG00099.hp1 HG00323.hp2 HG00642.hp2 others(5): Show |
intron_variant | MODIFIER | c.-331-135C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2328892 | |||||||
chr16:2328946 | G | T | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-331-189C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2328946 | |||||||
chr16:2328996 | C | CTT | 5 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-331-241_-331-240d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2328996 | |||||||
chr16:2328996 | CT | C | 37 | a0001c0001t0001g0095 a0001c0001t0001g0158 a0001c0001t0002g0191 others(34): Show |
37 | HG00609.hp2 HG00639.hp2 HG01071.hp1 others(34): Show |
intron_variant | MODIFIER | c.-331-240delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2328996 | |||||||
chr16:2329094 | C | T | 4 | a0001c0002t0003g0014 a0001c0002t0003g0017 a0001c0002t0003g0019 others(1): Show |
4 | HG00280.hp1 NA18966.hp2 NA19004.hp2 others(1): Show |
intron_variant | MODIFIER | c.-331-337G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329094 | |||||||
chr16:2329098 | C | G | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-331-341G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329098 | |||||||
chr16:2329322 | G | C | 3 | a0001c0001t0001g0189 a0001c0002t0001g0187 a0012c0015t0001g0186 |
3 | HG02486.hp2 HG02622.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.-332+326C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329322 | |||||||
chr16:2329357 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-332+291G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329357 | |||||||
chr16:2329382 | C | T | 1 | a0001c0001t0003g0013 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.-332+266G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329382 | |||||||
chr16:2329387 | G | C | 2 | a0001c0001t0008g0178 a0001c0003t0008g0163 |
2 | HG02257.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-332+261C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329387 | |||||||
chr16:2329539 | T | C | 1 | a0001c0001t0001g0188 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-332+109A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 2/32 | chr16 | 2329539 | |||||||
chr16:2329954 | T | A | 1 | a0001c0002t0001g0141 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-538-100A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2329954 | |||||||
chr16:2330070 | C | T | 36 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(33): Show |
36 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.-538-216G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330070 | |||||||
chr16:2330164 | C | T | 6 | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show |
6 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-538-310G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330164 | |||||||
chr16:2330186 | G | A | 2 | a0001c0005t0006g0038 a0001c0005t0006g0039 |
2 | HG02809.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-538-332C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330186 | |||||||
chr16:2330288 | CA | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0143 a0001c0001t0001g0188 others(53): Show |
56 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(53): Show |
intron_variant | MODIFIER | c.-538-435delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330288 | |||||||
chr16:2330319 | AT | A | 20 | a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0004g0006 others(17): Show |
20 | HG01884.hp1 HG01891.hp2 HG02280.hp1 others(17): Show |
intron_variant | MODIFIER | c.-538-466delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330319 | |||||||
chr16:2330319 | ATT | A | 39 | a0001c0001t0001g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 others(36): Show |
39 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.-538-467_-538-466d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330319 | |||||||
chr16:2330612 | A | T | 2 | a0001c0001t0001g0103 a0001c0001t0001g0104 |
2 | HG02132.hp2 NA18962.hp2 |
intron_variant | MODIFIER | c.-538-758T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330612 | |||||||
chr16:2330670 | C | T | 1 | a0001c0001t0001g0059 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.-538-816G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330670 | |||||||
chr16:2330697 | CT | C | 225 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(222): Show |
227 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(224): Show |
intron_variant | MODIFIER | c.-538-844delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330697 | |||||||
chr16:2330697 | CTT | C | 12 | a0001c0001t0001g0143 a0001c0001t0002g0217 a0001c0005t0001g0042 others(9): Show |
12 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.-538-845_-538-844d others(4): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330697 | |||||||
chr16:2330722 | G | A | 1 | a0001c0001t0014g0249 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-538-868C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330722 | |||||||
chr16:2330733 | C | T | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-538-879G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330733 | |||||||
chr16:2330848 | A | G | 58 | a0001c0001t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0189 others(55): Show |
58 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(55): Show |
intron_variant | MODIFIER | c.-538-994T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330848 | |||||||
chr16:2330855 | C | T | 1 | a0001c0001t0001g0092 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-538-1001G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330855 | |||||||
chr16:2330952 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-538-1098C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330952 | |||||||
chr16:2330957 | C | T | 11 | a0001c0001t0001g0143 a0001c0005t0001g0042 a0001c0005t0001g0048 others(8): Show |
11 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.-538-1103G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2330957 | |||||||
chr16:2331217 | C | CT | 8 | a0001c0001t0002g0199 a0001c0003t0002g0190 a0001c0003t0002g0201 others(5): Show |
8 | HG01884.hp2 HG02055.hp1 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.-538-1364dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331217 | |||||||
chr16:2331222 | C | T | 49 | a0001c0001t0001g0143 a0001c0001t0001g0189 a0001c0001t0002g0191 others(46): Show |
49 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(46): Show |
intron_variant | MODIFIER | c.-538-1368G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331222 | |||||||
chr16:2331256 | G | C | 57 | a0001c0001t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0189 others(54): Show |
57 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(54): Show |
intron_variant | MODIFIER | c.-538-1402C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331256 | |||||||
chr16:2331273 | C | T | 1 | a0012c0015t0001g0186 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.-538-1419G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331273 | |||||||
chr16:2331357 | C | T | 1 | a0001c0001t0001g0055 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.-538-1503G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331357 | |||||||
chr16:2331479 | G | A | 1 | a0001c0001t0001g0243 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.-538-1625C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331479 | |||||||
chr16:2331546 | C | T | 1 | a0001c0001t0001g0144 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.-538-1692G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331546 | |||||||
chr16:2331720 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-538-1866C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331720 | |||||||
chr16:2331770 | G | A | 2 | a0001c0001t0005g0036 a0001c0001t0005g0037 |
2 | HG02486.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-538-1916C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331770 | |||||||
chr16:2331775 | A | T | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-538-1921T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331775 | |||||||
chr16:2331776 | G | A | 5 | a0001c0001t0001g0143 a0001c0005t0001g0179 a0001c0005t0001g0180 others(2): Show |
5 | HG01891.hp2 HG02300.hp2 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.-538-1922C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331776 | |||||||
chr16:2331780 | C | T | 1 | a0010c0027t0003g0018 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.-538-1926G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331780 | |||||||
chr16:2331931 | C | A | 1 | a0001c0001t0001g0189 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-538-2077G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331931 | |||||||
chr16:2331941 | C | T | 2 | a0001c0002t0001g0102 a0001c0018t0001g0097 |
2 | HG00735.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.-538-2087G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2331941 | |||||||
chr16:2332129 | T | C | 1 | a0006c0012t0001g0041 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.-538-2275A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332129 | |||||||
chr16:2332165 | A | G | 24 | a0001c0001t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0189 others(21): Show |
24 | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(21): Show |
intron_variant | MODIFIER | c.-538-2311T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332165 | |||||||
chr16:2332222 | C | T | 10 | a0001c0001t0001g0143 a0001c0005t0001g0042 a0001c0005t0001g0048 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.-538-2368G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332222 | |||||||
chr16:2332353 | C | T | 2 | a0001c0001t0001g0099 a0001c0002t0011g0101 |
2 | HG00639.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.-538-2499G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332353 | |||||||
chr16:2332381 | G | A | 52 | a0001c0001t0001g0143 a0001c0001t0002g0191 a0001c0001t0002g0192 others(49): Show |
52 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(49): Show |
intron_variant | MODIFIER | c.-538-2527C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332381 | |||||||
chr16:2332405 | G | A | 35 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(32): Show |
35 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.-538-2551C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332405 | |||||||
chr16:2332425 | T | C | 35 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(32): Show |
35 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.-538-2571A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332425 | |||||||
chr16:2332513 | T | C | 1 | a0001c0002t0001g0142 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-538-2659A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332513 | |||||||
chr16:2332549 | G | A | 1 | a0001c0001t0002g0199 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-538-2695C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332549 | |||||||
chr16:2332614 | A | G | 1 | a0001c0001t0002g0200 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-538-2760T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332614 | |||||||
chr16:2332622 | C | T | 1 | a0001c0001t0001g0062 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.-538-2768G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332622 | |||||||
chr16:2332719 | A | T | 22 | a0001c0001t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0189 others(19): Show |
22 | HG01884.hp1 HG01891.hp2 HG02258.hp2 others(19): Show |
intron_variant | MODIFIER | c.-538-2865T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332719 | |||||||
chr16:2332727 | C | T | 1 | a0001c0009t0001g0049 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-538-2873G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332727 | |||||||
chr16:2332867 | C | T | 4 | a0001c0001t0004g0006 a0001c0006t0004g0004 a0001c0006t0004g0005 others(1): Show |
4 | HG02280.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-538-3013G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332867 | |||||||
chr16:2332952 | A | G | 1 | a0001c0002t0003g0017 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.-538-3098T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2332952 | |||||||
chr16:2333113 | A | G | 35 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(32): Show |
35 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(32): Show |
intron_variant | MODIFIER | c.-538-3259T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333113 | |||||||
chr16:2333175 | T | C | 57 | a0001c0001t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0189 others(54): Show |
57 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(54): Show |
intron_variant | MODIFIER | c.-538-3321A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333175 | |||||||
chr16:2333267 | T | G | 57 | a0001c0001t0001g0143 a0001c0001t0001g0188 a0001c0001t0001g0189 others(54): Show |
57 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(54): Show |
intron_variant | MODIFIER | c.-538-3413A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333267 | |||||||
chr16:2333377 | G | A | 1 | a0001c0025t0001g0043 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-538-3523C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333377 | |||||||
chr16:2333422 | T | C | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-538-3568A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333422 | |||||||
chr16:2333602 | CA | C | 5 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-538-3749delT | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333602 | |||||||
chr16:2333689 | C | CT | 5 | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0003g0033 others(2): Show |
5 | HG00408.hp1 HG01255.hp2 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.-538-3836dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333689 | |||||||
chr16:2333689 | CT | C | 50 | a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0188 others(47): Show |
50 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(47): Show |
intron_variant | MODIFIER | c.-538-3836delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333689 | |||||||
chr16:2333800 | T | C | 1 | a0001c0001t0001g0177 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-538-3946A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333800 | |||||||
chr16:2333838 | G | A | 1 | a0001c0001t0001g0090 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.-538-3984C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333838 | |||||||
chr16:2333932 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-538-4078G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333932 | |||||||
chr16:2333935 | G | A | 31 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(28): Show |
31 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(28): Show |
intron_variant | MODIFIER | c.-538-4081C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333935 | |||||||
chr16:2333983 | C | T | 2 | a0001c0005t0001g0048 a0001c0009t0001g0049 |
2 | HG03098.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-538-4129G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2333983 | |||||||
chr16:2334111 | C | T | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-538-4257G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334111 | |||||||
chr16:2334145 | C | T | 5 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0014g0249 others(2): Show |
5 | HG02486.hp2 HG02622.hp1 NA19030.hp1 others(2): Show |
intron_variant | MODIFIER | c.-538-4291G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334145 | |||||||
chr16:2334230 | T | C | 1 | a0001c0001t0003g0030 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.-538-4376A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334230 | |||||||
chr16:2334241 | T | C | 20 | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 others(17): Show |
20 | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.-538-4387A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334241 | |||||||
chr16:2334356 | C | T | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-538-4502G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334356 | |||||||
chr16:2334515 | AT | A | 41 | a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0002g0191 others(38): Show |
41 | HG00280.hp1 HG00408.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.-538-4662delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334515 | |||||||
chr16:2334661 | T | C | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-538-4807A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334661 | |||||||
chr16:2334670 | C | G | 2 | a0001c0001t0005g0036 a0001c0001t0005g0037 |
2 | HG02486.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-538-4816G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334670 | |||||||
chr16:2334826 | A | G | 1 | a0003c0014t0001g0098 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-538-4972T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334826 | |||||||
chr16:2334854 | G | A | 1 | a0001c0004t0001g0223 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-538-5000C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334854 | |||||||
chr16:2334985 | C | T | 1 | a0001c0018t0001g0097 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-538-5131G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2334985 | |||||||
chr16:2335355 | A | T | 33 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(30): Show |
33 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.-539+5218T>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2335355 | |||||||
chr16:2335364 | G | A | 10 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 others(7): Show |
10 | HG01167.hp1 HG01169.hp2 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.-539+5209C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2335364 | |||||||
chr16:2335612 | C | T | 1 | a0001c0001t0001g0096 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.-539+4961G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2335612 | |||||||
chr16:2335703 | T | A | 2 | a0001c0003t0001g0159 a0001c0003t0001g0160 |
2 | HG03516.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.-539+4870A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2335703 | |||||||
chr16:2335968 | G | A | 1 | a0001c0001t0001g0161 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-539+4605C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2335968 | |||||||
chr16:2336325 | A | C | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-539+4248T>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336325 | |||||||
chr16:2336423 | A | G | 17 | a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 others(14): Show |
17 | HG00280.hp2 HG00738.hp1 HG01169.hp1 others(14): Show |
intron_variant | MODIFIER | c.-539+4150T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336423 | |||||||
chr16:2336431 | CT | C | 6 | a0001c0001t0001g0091 a0001c0001t0002g0198 a0001c0001t0005g0036 others(3): Show |
6 | HG02040.hp2 HG02486.hp1 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.-539+4141delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336431 | |||||||
chr16:2336544 | C | A | 1 | a0001c0001t0014g0249 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-539+4029G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336544 | |||||||
chr16:2336597 | A | AT | 5 | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(2): Show |
5 | HG00609.hp1 HG00609.hp2 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.-539+3975dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336597 | |||||||
chr16:2336597 | AT | A | 132 | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 others(129): Show |
133 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.-539+3975delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336597 | |||||||
chr16:2336597 | ATT | A | 5 | a0001c0001t0008g0178 a0001c0003t0002g0190 a0001c0005t0001g0042 others(2): Show |
5 | HG02258.hp2 HG02897.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-539+3974_-539+397 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336597 | |||||||
chr16:2336597 | ATTTTTTT others(1): Show |
A | 11 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0004g0006 others(8): Show |
11 | HG02280.hp1 HG02486.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.-539+3968_-539+397 others(12): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336597 | |||||||
chr16:2336628 | C | T | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-539+3945G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336628 | |||||||
chr16:2336719 | C | T | 3 | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 |
3 | HG02132.hp1 HG02523.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.-539+3854G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336719 | |||||||
chr16:2336814 | C | T | 1 | a0001c0002t0001g0182 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-539+3759G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336814 | |||||||
chr16:2336855 | T | A | 5 | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0006t0004g0004 others(2): Show |
5 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-539+3718A>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336855 | |||||||
chr16:2336909 | C | T | 64 | a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 others(61): Show |
65 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.-539+3664G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2336909 | |||||||
chr16:2337259 | G | A | 25 | a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0012 others(22): Show |
25 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(22): Show |
intron_variant | MODIFIER | c.-539+3314C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337259 | |||||||
chr16:2337269 | C | T | 1 | a0001c0001t0010g0224 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-539+3304G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337269 | |||||||
chr16:2337315 | T | G | 22 | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 others(19): Show |
22 | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.-539+3258A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337315 | |||||||
chr16:2337320 | G | A | 4 | a0001c0001t0004g0006 a0001c0006t0004g0004 a0001c0006t0004g0005 others(1): Show |
4 | HG02280.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-539+3253C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337320 | |||||||
chr16:2337342 | A | G | 6 | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show |
6 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-539+3231T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337342 | |||||||
chr16:2337375 | CT | C | 33 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(30): Show |
33 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.-539+3197delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337375 | |||||||
chr16:2337445 | G | A | 1 | a0001c0001t0003g0032 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.-539+3128C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337445 | |||||||
chr16:2337548 | A | AT | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 others(53): Show |
56 | HG00639.hp2 HG01071.hp1 HG01192.hp2 others(53): Show |
intron_variant | MODIFIER | c.-539+3024dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337548 | |||||||
chr16:2337684 | C | A | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-539+2889G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337684 | |||||||
chr16:2337685 | C | G | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-539+2888G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337685 | |||||||
chr16:2337854 | G | A | 3 | a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 |
3 | HG01891.hp2 HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.-539+2719C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2337854 | |||||||
chr16:2338586 | C | T | 1 | a0001c0001t0001g0054 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-539+1987G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338586 | |||||||
chr16:2338641 | T | G | 36 | a0001c0001t0001g0219 a0001c0001t0002g0191 a0001c0001t0002g0192 others(33): Show |
36 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.-539+1932A>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338641 | |||||||
chr16:2338726 | A | G | 1 | a0001c0005t0001g0048 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.-539+1847T>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338726 | |||||||
chr16:2338751 | C | CT | 40 | a0001c0001t0001g0052 a0001c0001t0001g0219 a0001c0001t0002g0191 others(37): Show |
40 | HG00639.hp2 HG01071.hp1 HG01106.hp1 others(37): Show |
intron_variant | MODIFIER | c.-539+1821dupA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338751 | |||||||
chr16:2338751 | C | CTT | 7 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0014g0249 others(4): Show |
7 | HG01884.hp1 HG02486.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.-539+1820_-539+182 others(6): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338751 | |||||||
chr16:2338751 | C | CTTT | 6 | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show |
6 | HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-539+1819_-539+182 others(7): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338751 | |||||||
chr16:2338751 | CT | C | 9 | a0001c0001t0001g0035 a0001c0001t0001g0183 a0001c0001t0003g0033 others(6): Show |
9 | HG00408.hp1 HG01169.hp1 HG01515.hp1 others(6): Show |
intron_variant | MODIFIER | c.-539+1821delA | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338751 | |||||||
chr16:2338752 | T | C | 1 | a0001c0001t0001g0184 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-539+1821A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338752 | |||||||
chr16:2338793 | C | T | 5 | a0001c0005t0001g0048 a0001c0005t0006g0038 a0001c0005t0006g0039 others(2): Show |
5 | HG01884.hp1 HG02809.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.-539+1780G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338793 | |||||||
chr16:2338975 | C | T | 2 | a0001c0002t0001g0045 a0001c0002t0001g0046 |
2 | NA18942.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.-539+1598G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2338975 | |||||||
chr16:2339180 | T | C | 1 | a0001c0001t0001g0185 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-539+1393A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2339180 | |||||||
chr16:2339396 | T | C | 1 | a0005c0023t0001g0044 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-539+1177A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2339396 | |||||||
chr16:2339493 | T | C | 48 | a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0219 others(45): Show |
48 | HG00639.hp2 HG01071.hp1 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.-539+1080A>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2339493 | |||||||
chr16:2339953 | C | G | 1 | a0001c0003t0001g0226 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-539+620G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2339953 | |||||||
chr16:2339989 | C | G | 2 | a0001c0025t0001g0043 a0005c0023t0001g0044 |
2 | HG01891.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-539+584G>C | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2339989 | |||||||
chr16:2340006 | G | A | 1 | a0001c0005t0001g0042 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-539+567C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340006 | |||||||
chr16:2340167 | G | A | 1 | a0001c0003t0001g0226 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-539+406C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340167 | |||||||
chr16:2340387 | G | A | 1 | a0001c0001t0014g0249 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-539+186C>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340387 | |||||||
chr16:2340415 | G | C | 1 | a0001c0003t0001g0227 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-539+158C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340415 | |||||||
chr16:2340424 | C | CG | 5 | a0001c0004t0001g0040 a0001c0005t0001g0042 a0001c0005t0006g0038 others(2): Show |
5 | HG02258.hp2 HG02300.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.-539+148dupC | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340424 | |||||||
chr16:2340431 | G | C | 19 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 others(16): Show |
19 | HG00280.hp2 HG00738.hp1 HG01169.hp1 others(16): Show |
intron_variant | MODIFIER | c.-539+142C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340431 | |||||||
chr16:2340467 | G | C | 1 | a0001c0001t0014g0249 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-539+106C>G | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340467 | |||||||
chr16:2340479 | C | A | 1 | a0001c0004t0001g0247 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.-539+94G>T | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340479 | |||||||
chr16:2340532 | C | T | 2 | a0001c0001t0005g0036 a0001c0001t0005g0037 |
2 | HG02486.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.-539+41G>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340532 | |||||||
chr16:2340564 | G | T | 2 | a0001c0001t0001g0034 a0001c0001t0001g0035 |
2 | HG01496.hp2 HG01943.hp2 |
intron_variant | MODIFIER | c.-539+9C>A | ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 1/32 | chr16 | 2340564 |