Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 538 |
| ensemblid | ENSG00000165240.22 |
| hgncid | 869 |
| symbol | ATP7A |
| name | ATPase copper transporting alpha |
| refseq_nuc | NM_000052.7 |
| refseq_prot | NP_000043.4 |
| ensembl_nuc | ENST00000341514.11 |
| ensembl_prot | ENSP00000345728.6 |
| mane_status | MANE Select |
| chr | chrX |
| start | 77910693 |
| end | 78050395 |
| strand | + |
| ver | v1.2 |
| region | chrX:77910693-78050395 |
| region5000 | chrX:77905693-78055395 |
| regionname0 | ATP7A_chrX_77910693_78050395 |
| regionname5000 | ATP7A_chrX_77905693_78055395 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1500 | 141 | 34 | 17 | 66 | 5 | 17 | 50 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0002 | 0/0 | 1500 | 74 | 15 | 13 | 36 | 2 | 8 | 26 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0003 | 0/0 | 1500 | 5 | 3 | 2 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0004 | 0/0 | 1500 | 5 | 0 | 0 | 5 | 0 | 0 | 4 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0005 | 0/0 | 1500 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0006 | 0/0 | 1500 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0007 | 0/0 | 1500 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0008 | 0/0 | 1500 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0009 | 0/0 | 1500 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0010 | 0/0 | 1500 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| a0011 | 0/0 | 1500 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | MDPSM others(1495): Show |
chrX | 77905693 | 78055395 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 4500 | 137 | 34 | 17 | 63 | 5 | 16 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0001c0005 | 0/0 | 4500 | 2 | 0 | 0 | 2 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0001c0008 | 0/0 | 4500 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0001c0011 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0002c0002 | 0/0 | 4500 | 74 | 15 | 13 | 36 | 2 | 8 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0003c0004 | 0/0 | 4500 | 5 | 3 | 2 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0004c0003 | 0/0 | 4500 | 5 | 0 | 0 | 5 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0005c0006 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0006c0009 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0007c0007 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0008c0012 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0009c0010 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0010c0013 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 | ||
| a0011c0014 | 0/0 | 4500 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | ATGGA others(4495): Show |
chrX | 77905693 | 78055395 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 8492 | 60 | 3 | 10 | 30 | 5 | 10 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0003 | 0/0 | 8494 | 2 | 2 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0004 | 0/0 | 8492 | 29 | 1 | 5 | 22 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0005 | 0/0 | 8492 | 24 | 11 | 1 | 9 | 0 | 3 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0007 | 0/0 | 8492 | 8 | 7 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0008 | 0/0 | 8492 | 4 | 4 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0010 | 0/0 | 8492 | 3 | 3 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0014 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0015 | 0/0 | 8492 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0016 | 0/0 | 8492 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0017 | 0/0 | 8492 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0019 | 0/0 | 8492 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0020 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0001t0021 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0005t0001 | 0/0 | 8492 | 2 | 0 | 0 | 2 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0008t0001 | 0/0 | 8492 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0001c0011t0005 | 0/0 | 8492 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0002 | 0/0 | 8494 | 29 | 0 | 3 | 21 | 0 | 5 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0003 | 0/0 | 8494 | 28 | 14 | 9 | 0 | 2 | 3 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0006 | 0/0 | 8494 | 12 | 0 | 0 | 12 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0007 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0011 | 0/0 | 8494 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0012 | 0/0 | 8517 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8512): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0013 | 0/0 | 8492 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0002c0002t0018 | 0/0 | 8523 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8518): Show |
chrX | 77905693 | 78055395 |
| a0003c0004t0009 | 0/0 | 8492 | 5 | 3 | 2 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0004c0003t0002 | 0/0 | 8494 | 5 | 0 | 0 | 5 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0005c0006t0008 | 0/0 | 8492 | 2 | 2 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0006c0009t0003 | 0/0 | 8494 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8489): Show |
chrX | 77905693 | 78055395 |
| a0007c0007t0005 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0008c0012t0005 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0009c0010t0001 | 0/0 | 8492 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0010c0013t0007 | 0/0 | 8492 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| a0011c0014t0004 | 0/0 | 8492 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | AGGAG others(8487): Show |
chrX | 77905693 | 78055395 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0048 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0003g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0004g0231 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0005g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0007g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0008g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0008g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0008g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0008g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0010g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0010g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0010g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0014g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0015g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0016g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0017g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0019g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0020g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0001t0021g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0005t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0005t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0008t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0001c0011t0005g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0070 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0028 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0003g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0006g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0007g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0011g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0012g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0013g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0002c0002t0018g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0003c0004t0009g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0003c0004t0009g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0003c0004t0009g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0003c0004t0009g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0003c0004t0009g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0004c0003t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0004c0003t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0004c0003t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0004c0003t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0004c0003t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0005c0006t0008g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0005c0006t0008g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0006c0009t0003g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0007c0007t0005g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0008c0012t0005g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0009c0010t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0010c0013t0007g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| a0011c0014t0004g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0179 | EUR | GBR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0214 | EUR | FIN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00438 | hp1 | a0002 | c0002 | t0006 | g0105 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00438 | hp2 | a0002 | c0002 | t0002 | g0043 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00544 | hp2 | a0002 | c0002 | t0013 | g0074 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00558 | hp2 | a0001 | c0001 | t0005 | g0142 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00597 | hp1 | a0002 | c0002 | t0002 | g0065 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00597 | hp2 | a0001 | c0001 | t0004 | g0216 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00609 | hp1 | a0002 | c0002 | t0002 | g0038 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00621 | hp1 | a0002 | c0002 | t0002 | g0033 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0198 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | CHS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00733 | hp2 | a0002 | c0002 | t0003 | g0042 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00735 | hp1 | a0002 | c0002 | t0002 | g0046 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00735 | hp2 | a0006 | c0009 | t0003 | g0076 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG00738 | hp1 | a0002 | c0002 | t0003 | g0102 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01069 | hp1 | a0002 | c0002 | t0003 | g0051 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01074 | hp1 | a0002 | c0002 | t0003 | g0025 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0177 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01081 | hp2 | a0002 | c0002 | t0011 | g0073 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0180 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01109 | hp1 | a0001 | c0001 | t0005 | g0137 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01167 | hp1 | a0003 | c0004 | t0009 | g0133 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01169 | hp1 | a0001 | c0001 | t0004 | g0208 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01169 | hp2 | a0003 | c0004 | t0009 | g0134 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0206 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01243 | hp1 | a0001 | c0001 | t0007 | g0018 | AMR | PUR | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01255 | hp1 | a0002 | c0002 | t0003 | g0034 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01256 | hp1 | a0001 | c0001 | t0001 | g0186 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01258 | hp1 | a0002 | c0002 | t0002 | g0075 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01261 | hp1 | a0001 | c0001 | t0004 | g0211 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01358 | hp1 | a0001 | c0001 | t0004 | g0213 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01433 | hp1 | a0002 | c0002 | t0003 | g0026 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01496 | hp2 | a0002 | c0002 | t0003 | g0069 | AMR | CLM | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01515 | hp1 | a0002 | c0002 | t0003 | g0027 | EUR | IBS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0161 | EUR | IBS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01517 | hp2 | a0002 | c0002 | t0003 | g0028 | EUR | IBS | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01884 | hp1 | a0002 | c0002 | t0007 | g0081 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01884 | hp2 | a0003 | c0004 | t0009 | g0130 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0191 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01943 | hp1 | a0002 | c0002 | t0003 | g0066 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG01952 | hp1 | a0001 | c0001 | t0004 | g0210 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02015 | hp1 | a0001 | c0011 | t0005 | g0146 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02040 | hp1 | a0002 | c0002 | t0002 | g0052 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02056 | hp1 | a0002 | c0002 | t0002 | g0050 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02071 | hp1 | a0001 | c0001 | t0004 | g0151 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02074 | hp1 | a0001 | c0001 | t0004 | g0196 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02080 | hp1 | a0002 | c0002 | t0002 | g0199 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0049 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0092 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02132 | hp1 | a0001 | c0001 | t0004 | g0168 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02135 | hp1 | a0002 | c0002 | t0002 | g0223 | EAS | KHV | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0197 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02165 | hp1 | a0004 | c0003 | t0002 | g0039 | EAS | CDX | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02165 | hp2 | a0001 | c0001 | t0005 | g0227 | EAS | CDX | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02258 | hp1 | a0001 | c0001 | t0008 | g0121 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02273 | hp1 | a0001 | c0001 | t0004 | g0209 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02273 | hp2 | a0002 | c0002 | t0003 | g0068 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02280 | hp1 | a0005 | c0006 | t0008 | g0119 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02280 | hp2 | a0007 | c0007 | t0005 | g0138 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02300 | hp1 | a0002 | c0002 | t0002 | g0054 | AMR | PEL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02451 | hp1 | a0003 | c0004 | t0009 | g0131 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02451 | hp2 | a0002 | c0002 | t0003 | g0082 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02572 | hp1 | a0001 | c0001 | t0005 | g0004 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0139 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02615 | hp1 | a0001 | c0001 | t0005 | g0129 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02615 | hp2 | a0001 | c0001 | t0010 | g0013 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02647 | hp1 | a0001 | c0001 | t0005 | g0003 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02683 | hp1 | a0002 | c0002 | t0002 | g0101 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0030 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02698 | hp1 | a0002 | c0002 | t0003 | g0035 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02717 | hp1 | a0001 | c0001 | t0005 | g0126 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0183 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0150 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02809 | hp1 | a0001 | c0001 | t0005 | g0015 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02809 | hp2 | a0001 | c0001 | t0010 | g0021 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02886 | hp1 | a0005 | c0006 | t0008 | g0118 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02886 | hp2 | a0001 | c0001 | t0005 | g0127 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02895 | hp1 | a0001 | c0001 | t0007 | g0006 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02897 | hp1 | a0001 | c0001 | t0007 | g0171 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02922 | hp1 | a0002 | c0002 | t0003 | g0080 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02922 | hp2 | a0001 | c0001 | t0008 | g0122 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02965 | hp1 | a0001 | c0001 | t0005 | g0136 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02970 | hp1 | a0001 | c0001 | t0020 | g0012 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02970 | hp2 | a0002 | c0002 | t0003 | g0085 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0207 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03041 | hp1 | a0001 | c0001 | t0010 | g0141 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0017 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03098 | hp1 | a0002 | c0002 | t0003 | g0084 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03130 | hp1 | a0002 | c0002 | t0003 | g0077 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03139 | hp1 | a0002 | c0002 | t0003 | g0083 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0217 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03195 | hp2 | a0001 | c0001 | t0008 | g0123 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03209 | hp1 | a0001 | c0001 | t0007 | g0008 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03225 | hp1 | a0001 | c0001 | t0014 | g0014 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03239 | hp1 | a0002 | c0002 | t0002 | g0036 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03239 | hp2 | a0001 | c0001 | t0005 | g0148 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03453 | hp1 | a0001 | c0001 | t0007 | g0019 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03453 | hp2 | a0002 | c0002 | t0003 | g0079 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0187 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0029 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03516 | hp1 | a0001 | c0001 | t0005 | g0224 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03516 | hp2 | a0002 | c0002 | t0003 | g0010 | AFR | ESN | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03540 | hp1 | a0001 | c0001 | t0021 | g0020 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03540 | hp2 | a0008 | c0012 | t0005 | g0125 | AFR | GWD | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03579 | hp1 | a0001 | c0001 | t0005 | g0135 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03654 | hp1 | a0002 | c0002 | t0002 | g0058 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03688 | hp1 | a0001 | c0008 | t0001 | g0176 | SAS | STU | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03710 | hp1 | a0002 | c0002 | t0002 | g0070 | SAS | PJL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03831 | hp1 | a0001 | c0001 | t0004 | g0231 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03831 | hp2 | a0002 | c0002 | t0003 | g0222 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03927 | hp2 | a0002 | c0002 | t0002 | g0047 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03942 | hp1 | a0001 | c0001 | t0019 | g0201 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0117 | SAS | STU | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG04184 | hp1 | a0001 | c0001 | t0005 | g0140 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG04184 | hp2 | a0002 | c0002 | t0003 | g0024 | SAS | BEB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0219 | SAS | STU | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG04204 | hp1 | a0001 | c0001 | t0005 | g0143 | SAS | STU | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG04228 | hp1 | a0001 | c0001 | t0016 | g0188 | SAS | STU | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18522 | hp1 | a0002 | c0002 | t0003 | g0078 | AFR | YRI | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | CHB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | CHB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18906 | hp1 | a0002 | c0002 | t0003 | g0221 | AFR | YRI | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18906 | hp2 | a0001 | c0001 | t0005 | g0128 | AFR | YRI | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18940 | hp1 | a0004 | c0003 | t0002 | g0063 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18942 | hp1 | a0002 | c0002 | t0012 | g0071 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0086 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18943 | hp1 | a0002 | c0002 | t0002 | g0060 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18944 | hp1 | a0002 | c0002 | t0006 | g0112 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18945 | hp1 | a0002 | c0002 | t0006 | g0109 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18947 | hp1 | a0001 | c0001 | t0004 | g0165 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18947 | hp2 | a0002 | c0002 | t0002 | g0056 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18948 | hp1 | a0001 | c0001 | t0005 | g0145 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18949 | hp1 | a0001 | c0001 | t0004 | g0229 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18949 | hp2 | a0001 | c0001 | t0005 | g0147 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18951 | hp1 | a0002 | c0002 | t0002 | g0044 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18952 | hp1 | a0002 | c0002 | t0002 | g0041 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18953 | hp1 | a0002 | c0002 | t0006 | g0107 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18954 | hp1 | a0001 | c0001 | t0005 | g0124 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18954 | hp2 | a0001 | c0005 | t0001 | g0157 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18959 | hp1 | a0001 | c0001 | t0004 | g0193 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18960 | hp1 | a0004 | c0003 | t0002 | g0061 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18962 | hp1 | a0001 | c0001 | t0005 | g0011 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18965 | hp1 | a0001 | c0001 | t0005 | g0225 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18966 | hp1 | a0002 | c0002 | t0006 | g0108 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18969 | hp2 | a0002 | c0002 | t0002 | g0057 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18970 | hp1 | a0001 | c0001 | t0004 | g0144 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0090 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18974 | hp1 | a0002 | c0002 | t0018 | g0103 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18975 | hp1 | a0001 | c0001 | t0004 | g0160 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18975 | hp2 | a0002 | c0002 | t0006 | g0113 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18977 | hp1 | a0001 | c0001 | t0004 | g0200 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18982 | hp1 | a0001 | c0001 | t0004 | g0189 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18984 | hp1 | a0001 | c0005 | t0001 | g0159 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18986 | hp1 | a0001 | c0001 | t0004 | g0185 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18987 | hp1 | a0002 | c0002 | t0002 | g0072 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18987 | hp2 | a0001 | c0001 | t0004 | g0169 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18988 | hp1 | a0001 | c0001 | t0004 | g0166 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18989 | hp1 | a0004 | c0003 | t0002 | g0059 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18990 | hp1 | a0001 | c0001 | t0004 | g0152 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18994 | hp1 | a0002 | c0002 | t0006 | g0110 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19000 | hp1 | a0001 | c0001 | t0004 | g0202 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19001 | hp1 | a0001 | c0001 | t0004 | g0172 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19001 | hp2 | a0001 | c0001 | t0005 | g0228 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19003 | hp2 | a0004 | c0003 | t0002 | g0045 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19004 | hp1 | a0002 | c0002 | t0006 | g0001 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19007 | hp1 | a0002 | c0002 | t0002 | g0053 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19011 | hp1 | a0001 | c0001 | t0015 | g0163 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19011 | hp2 | a0002 | c0002 | t0006 | g0111 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19012 | hp1 | a0009 | c0010 | t0001 | g0087 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19030 | hp1 | a0002 | c0002 | t0003 | g0032 | AFR | LWK | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19030 | hp2 | a0010 | c0013 | t0007 | g0232 | AFR | LWK | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19043 | hp1 | a0001 | c0001 | t0008 | g0120 | AFR | LWK | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19062 | hp1 | a0002 | c0002 | t0006 | g0001 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19063 | hp1 | a0002 | c0002 | t0006 | g0106 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19064 | hp1 | a0001 | c0001 | t0004 | g0230 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19064 | hp2 | a0002 | c0002 | t0002 | g0064 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19065 | hp1 | a0002 | c0002 | t0002 | g0062 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19066 | hp1 | a0002 | c0002 | t0002 | g0040 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19067 | hp1 | a0001 | c0001 | t0004 | g0153 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0098 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19074 | hp1 | a0001 | c0001 | t0004 | g0173 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19074 | hp2 | a0001 | c0001 | t0005 | g0226 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19076 | hp1 | a0002 | c0002 | t0006 | g0104 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19079 | hp1 | a0002 | c0002 | t0002 | g0115 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19082 | hp1 | a0002 | c0002 | t0002 | g0055 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19083 | hp1 | a0001 | c0001 | t0017 | g0215 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19085 | hp1 | a0002 | c0002 | t0002 | g0067 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19089 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA19091 | hp1 | a0001 | c0001 | t0004 | g0194 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20129 | hp1 | a0001 | c0001 | t0003 | g0016 | AFR | ASW | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20129 | hp2 | a0003 | c0004 | t0009 | g0132 | AFR | ASW | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0184 | EUR | TSI | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0181 | EUR | TSI | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20905 | hp1 | a0011 | c0014 | t0004 | g0192 | SAS | GIH | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02486 | hp1 | a0002 | c0002 | t0003 | g0031 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02559 | hp1 | a0002 | c0002 | t0003 | g0116 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG02559 | hp2 | a0001 | c0001 | t0007 | g0005 | AFR | ACB | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| HG03471 | hp1 | a0001 | c0001 | t0007 | g0009 | AFR | MSL | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA18955 | hp1 | a0001 | c0001 | t0004 | g0220 | EAS | JPT | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20300 | hp1 | a0001 | c0001 | t0007 | g0022 | AFR | USA | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA20300 | hp2 | a0001 | c0001 | t0004 | g0212 | AFR | USA | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA21309 | hp1 | a0001 | c0001 | t0005 | g0218 | AFR | LWK | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| NA21309 | hp2 | a0002 | c0002 | t0003 | g0114 | AFR | LWK | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0002 | REF | REF | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0048 | REF | REF | ATP7A_chrX_77905693_78055395 | ATP7A | chrX | 77905693 | 78055395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:77988612 | G | A | 1 | a0007 | 1 | HG02280.hp2 | missense_variant | MODERATE | c.491G>A | p.Ser164Asn | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 3/23 | 655/8492 | 491/4503 | 164/1500 | chrX | 77988612 | |||
| chrX:77988686 | A | G | 1 | a0003 | 5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
missense_variant | MODERATE | c.565A>G | p.Ile189Val | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 3/23 | 729/8492 | 565/4503 | 189/1500 | chrX | 77988686 | |||
| chrX:77998657 | A | G | 1 | a0003 | 5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
missense_variant | MODERATE | c.1516A>G | p.Ile506Val | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/23 | 1680/8492 | 1516/4503 | 506/1500 | chrX | 77998657 | |||
| chrX:78009150 | C | G | 1 | a0011 | 1 | NA20905.hp1 | missense_variant | MODERATE | c.1756C>G | p.Leu586Val | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/23 | 1920/8492 | 1756/4503 | 586/1500 | chrX | 78009150 | |||
| chrX:78009162 | A | G | 1 | a0010 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.1768A>G | p.Arg590Gly | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/23 | 1932/8492 | 1768/4503 | 590/1500 | chrX | 78009162 | |||
| chrX:78009217 | A | G | 1 | a0005 | 2 | HG02280.hp1 HG02886.hp1 |
missense_variant | MODERATE | c.1823A>G | p.Tyr608Cys | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/23 | 1987/8492 | 1823/4503 | 608/1500 | chrX | 78009217 | |||
| chrX:78011457 | G | A | 1 | a0006 | 1 | HG00735.hp2 | missense_variant | MODERATE | c.1955G>A | p.Arg652Gln | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/23 | 2119/8492 | 1955/4503 | 652/1500 | chrX | 78011457 | |||
| chrX:78011613 | A | G | 1 | a0011 | 1 | NA20905.hp1 | missense_variant | MODERATE | c.2111A>G | p.Gln704Arg | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/23 | 2275/8492 | 2111/4503 | 704/1500 | chrX | 78011613 | |||
| chrX:78013005 | G | C | 3 | a0002 a0004 a0006 |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
missense_variant | MODERATE | c.2299G>C | p.Val767Leu | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/23 | 2463/8492 | 2299/4503 | 767/1500 | chrX | 78013005 | |||
| chrX:78031400 | G | A | 1 | a0009 | 1 | NA19012.hp1 | missense_variant&splice_region_variant | MODERATE | c.3112G>A | p.Val1038Ile | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/23 | 3276/8492 | 3112/4503 | 1038/1500 | chrX | 78031400 | |||
| chrX:78038913 | A | G | 1 | a0008 | 1 | HG03540.hp2 | missense_variant | MODERATE | c.3589A>G | p.Asn1197Asp | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/23 | 3753/8492 | 3589/4503 | 1197/1500 | chrX | 78038913 | |||
| chrX:78043317 | A | G | 1 | a0006 | 1 | HG00735.hp2 | missense_variant&splice_region_variant | MODERATE | c.4006A>G | p.Asn1336Asp | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/23 | 4170/8492 | 4006/4503 | 1336/1500 | chrX | 78043317 | |||
| chrX:78046457 | A | G | 1 | a0004 | 5 | HG02165.hp1 NA18940.hp1 NA18960.hp1 others(2): Show |
missense_variant | MODERATE | c.4390A>G | p.Ile1464Val | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 4554/8492 | 4390/4503 | 1464/1500 | chrX | 78046457 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:77989486 | T | C | 1 | a0001c0005 | 2 | NA18954.hp2 NA18984.hp1 |
synonymous_variant | LOW | c.864T>C | p.Cys288Cys | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/23 | 1028/8492 | 864/4503 | 288/1500 | chrX | 77989486 | |||
| chrX:78011208 | G | A | 1 | a0001c0008 | 1 | HG03688.hp1 | synonymous_variant | LOW | c.1902G>A | p.Lys634Lys | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 8/23 | 2066/8492 | 1902/4503 | 634/1500 | chrX | 78011208 | |||
| chrX:78038945 | G | A | 1 | a0001c0011 | 1 | HG02015.hp1 | synonymous_variant | LOW | c.3621G>A | p.Glu1207Glu | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/23 | 3785/8492 | 3621/4503 | 1207/1500 | chrX | 78038945 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:77910763 | C | G | 1 | a0001c0001t0021 | 1 | HG03540.hp1 | 5_prime_UTR_variant | MODIFIER | c.-94C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/23 | 60879 | chrX | 77910763 | ||||||
| chrX:78046610 | C | G | 1 | a0001c0001t0020 | 1 | HG02970.hp1 | 3_prime_UTR_variant | MODIFIER | c.*40C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 40 | chrX | 78046610 | ||||||
| chrX:78046702 | C | A | 1 | a0001c0001t0010 | 3 | HG02615.hp2 HG02809.hp2 HG03041.hp1 |
3_prime_UTR_variant | MODIFIER | c.*132C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 132 | chrX | 78046702 | ||||||
| chrX:78046805 | A | G | 1 | a0001c0001t0019 | 1 | HG03942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*235A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 235 | chrX | 78046805 | ||||||
| chrX:78046821 | G | GTTTACAA others(24): Show |
1 | a0002c0002t0018 | 1 | NA18974.hp1 | 3_prime_UTR_variant | MODIFIER | c.*252_*282dupTTTACA others(25): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 283 | INFO_REALIGN_3_PRIME | chrX | 78046821 | |||||
| chrX:78046837 | A | G | 2 | a0001c0001t0008 a0005c0006t0008 |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*267A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 267 | chrX | 78046837 | ||||||
| chrX:78046888 | C | CAA | 8 | a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(5): Show |
79 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(76): Show |
3_prime_UTR_variant | MODIFIER | c.*328_*329dupAA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 330 | INFO_REALIGN_3_PRIME | chrX | 78046888 | |||||
| chrX:78047471 | C | G | 1 | a0001c0001t0017 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*901C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 901 | chrX | 78047471 | ||||||
| chrX:78047504 | C | T | 2 | a0002c0002t0006 a0002c0002t0018 |
13 | HG00438.hp1 NA18944.hp1 NA18945.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*934C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 934 | chrX | 78047504 | ||||||
| chrX:78047661 | C | T | 1 | a0001c0001t0016 | 1 | HG04228.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1091C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1091 | chrX | 78047661 | ||||||
| chrX:78047730 | C | T | 1 | a0001c0001t0015 | 1 | NA19011.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1160C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1160 | chrX | 78047730 | ||||||
| chrX:78047889 | A | G | 1 | a0001c0001t0014 | 1 | HG03225.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1319A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1319 | chrX | 78047889 | ||||||
| chrX:78048050 | C | T | 6 | a0002c0002t0002 a0002c0002t0006 a0002c0002t0012 others(3): Show |
49 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(46): Show |
3_prime_UTR_variant | MODIFIER | c.*1480C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1480 | chrX | 78048050 | ||||||
| chrX:78048389 | T | C | 1 | a0003c0004t0009 | 5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1819T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1819 | chrX | 78048389 | ||||||
| chrX:78048481 | G | C | 2 | a0001c0001t0004 a0011c0014t0004 |
30 | HG00597.hp2 HG01169.hp1 HG01261.hp1 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*1911G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1911 | chrX | 78048481 | ||||||
| chrX:78048530 | T | C | 24 | a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(21): Show |
135 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(132): Show |
3_prime_UTR_variant | MODIFIER | c.*1960T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 1960 | chrX | 78048530 | ||||||
| chrX:78048811 | G | C | 9 | a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(6): Show |
42 | HG00558.hp2 HG01081.hp2 HG01109.hp1 others(39): Show |
3_prime_UTR_variant | MODIFIER | c.*2241G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 2241 | chrX | 78048811 | ||||||
| chrX:78049410 | C | CAACCATG others(16): Show |
1 | a0002c0002t0012 | 1 | NA18942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2844_*2866dupCATG others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 23/23 | 2867 | INFO_REALIGN_3_PRIME | chrX | 78049410 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:77910985 | T | C | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-22+150T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77910985 | |||||||
| chrX:77911046 | C | G | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+211C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77911046 | |||||||
| chrX:77911524 | G | A | 5 | a0001c0001t0001g0007 a0001c0001t0007g0005 a0001c0001t0007g0006 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+689G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77911524 | |||||||
| chrX:77911559 | A | AT | 12 | a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 others(9): Show |
12 | HG02135.hp1 HG02165.hp2 HG03516.hp1 others(9): Show |
intron_variant | MODIFIER | c.-22+739dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77911559 | ||||||
| chrX:77911559 | AT | A | 19 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0003g0016 others(16): Show |
19 | HG01243.hp1 HG02559.hp2 HG02615.hp2 others(16): Show |
intron_variant | MODIFIER | c.-22+739delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77911559 | ||||||
| chrX:77911600 | G | A | 5 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 others(2): Show |
5 | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+765G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77911600 | |||||||
| chrX:77911849 | C | A | 1 | a0001c0001t0001g0029 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.-22+1014C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77911849 | |||||||
| chrX:77911858 | C | T | 1 | a0001c0001t0004g0220 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-22+1023C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77911858 | |||||||
| chrX:77912154 | T | C | 1 | a0001c0001t0007g0005 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-22+1319T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77912154 | |||||||
| chrX:77912944 | C | T | 1 | a0001c0001t0001g0219 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-22+2109C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77912944 | |||||||
| chrX:77913508 | T | A | 1 | a0001c0001t0001g0030 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-22+2673T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77913508 | |||||||
| chrX:77913509 | C | A | 1 | a0001c0001t0001g0030 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-22+2674C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77913509 | |||||||
| chrX:77913510 | A | T | 1 | a0001c0001t0001g0030 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-22+2675A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77913510 | |||||||
| chrX:77913520 | T | C | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-22+2685T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77913520 | |||||||
| chrX:77913824 | G | A | 1 | a0002c0002t0003g0031 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-22+2989G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77913824 | |||||||
| chrX:77914078 | C | T | 135 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(132): Show |
135 | HG00140.hp1 HG00280.hp1 HG00558.hp2 others(132): Show |
intron_variant | MODIFIER | c.-22+3243C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77914078 | |||||||
| chrX:77914216 | C | G | 1 | a0001c0001t0005g0218 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-22+3381C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77914216 | |||||||
| chrX:77914548 | C | T | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+3713C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77914548 | |||||||
| chrX:77914572 | G | A | 1 | a0001c0001t0001g0117 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-22+3737G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77914572 | |||||||
| chrX:77915274 | C | T | 78 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 others(75): Show |
78 | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.-22+4439C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77915274 | |||||||
| chrX:77915328 | G | GA | 6 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0004g0229 others(3): Show |
6 | HG00621.hp1 HG02738.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+4506dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77915328 | ||||||
| chrX:77915425 | G | A | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.-22+4590G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77915425 | |||||||
| chrX:77915881 | C | T | 1 | a0002c0002t0003g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-22+5046C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77915881 | |||||||
| chrX:77915891 | A | G | 1 | a0002c0002t0002g0115 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-22+5056A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77915891 | |||||||
| chrX:77916030 | C | T | 1 | a0001c0001t0007g0022 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-22+5195C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77916030 | |||||||
| chrX:77916354 | C | CA | 10 | a0001c0001t0001g0007 a0001c0001t0004g0151 a0001c0001t0004g0152 others(7): Show |
10 | HG01255.hp1 HG02071.hp1 HG02559.hp2 others(7): Show |
intron_variant | MODIFIER | c.-22+5536dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77916354 | ||||||
| chrX:77916549 | T | C | 1 | a0002c0002t0003g0035 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-22+5714T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77916549 | |||||||
| chrX:77917075 | C | T | 1 | a0002c0002t0003g0114 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-22+6240C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77917075 | |||||||
| chrX:77917126 | A | T | 4 | a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 others(1): Show |
4 | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.-22+6291A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77917126 | |||||||
| chrX:77917645 | T | C | 6 | a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0122 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+6810T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77917645 | |||||||
| chrX:77917674 | C | T | 12 | a0002c0002t0006g0001 a0002c0002t0006g0104 a0002c0002t0006g0105 others(9): Show |
13 | HG00438.hp1 NA18944.hp1 NA18945.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+6839C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77917674 | |||||||
| chrX:77917690 | G | A | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+6855G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77917690 | |||||||
| chrX:77918066 | C | CT | 6 | a0001c0001t0001g0217 a0001c0001t0004g0153 a0001c0001t0005g0228 others(3): Show |
6 | HG00621.hp1 HG00738.hp1 HG02135.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+7249dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77918066 | ||||||
| chrX:77918066 | CT | C | 6 | a0001c0001t0001g0037 a0001c0001t0005g0011 a0001c0001t0005g0124 others(3): Show |
6 | HG01074.hp1 HG03239.hp1 NA18906.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+7249delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77918066 | ||||||
| chrX:77918454 | A | C | 1 | a0001c0001t0005g0148 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-22+7619A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77918454 | |||||||
| chrX:77918717 | T | C | 1 | a0001c0001t0001g0154 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-22+7882T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77918717 | |||||||
| chrX:77919228 | T | C | 1 | a0002c0002t0002g0038 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-22+8393T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77919228 | |||||||
| chrX:77919661 | T | C | 1 | a0001c0001t0020g0012 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-22+8826T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77919661 | |||||||
| chrX:77919768 | G | A | 2 | a0002c0002t0002g0223 a0004c0003t0002g0039 |
2 | HG02135.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.-22+8933G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77919768 | |||||||
| chrX:77919934 | C | A | 2 | a0001c0001t0005g0126 a0008c0012t0005g0125 |
2 | HG02717.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-22+9099C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77919934 | |||||||
| chrX:77920219 | A | AT | 8 | a0001c0001t0004g0153 a0001c0001t0004g0216 a0001c0001t0005g0003 others(5): Show |
8 | HG00597.hp2 HG02486.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+9398dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77920219 | ||||||
| chrX:77920247 | G | A | 2 | a0001c0001t0001g0217 a0001c0001t0004g0230 |
2 | HG03195.hp1 NA19064.hp1 |
intron_variant | MODIFIER | c.-22+9412G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920247 | |||||||
| chrX:77920381 | A | G | 1 | a0001c0001t0001g0219 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-22+9546A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920381 | |||||||
| chrX:77920407 | C | G | 5 | a0001c0001t0005g0147 a0001c0001t0005g0225 a0001c0001t0005g0226 others(2): Show |
5 | HG02165.hp2 NA18949.hp2 NA18965.hp1 others(2): Show |
intron_variant | MODIFIER | c.-22+9572C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920407 | |||||||
| chrX:77920507 | G | A | 1 | a0001c0001t0001g0155 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-22+9672G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920507 | |||||||
| chrX:77920538 | C | T | 1 | a0001c0001t0001g0214 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-22+9703C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920538 | |||||||
| chrX:77920601 | G | A | 3 | a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0129 |
3 | HG02615.hp1 HG02886.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.-22+9766G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920601 | |||||||
| chrX:77920849 | G | T | 94 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 others(91): Show |
94 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(91): Show |
intron_variant | MODIFIER | c.-22+10014G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77920849 | |||||||
| chrX:77921222 | G | A | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+10387G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77921222 | |||||||
| chrX:77921682 | C | T | 13 | a0002c0002t0003g0032 a0002c0002t0003g0077 a0002c0002t0003g0078 others(10): Show |
13 | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.-22+10847C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77921682 | |||||||
| chrX:77921889 | G | A | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+11054G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77921889 | |||||||
| chrX:77921987 | G | A | 2 | a0002c0002t0002g0040 a0002c0002t0002g0041 |
2 | NA18952.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.-22+11152G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77921987 | |||||||
| chrX:77921992 | G | A | 1 | a0002c0002t0003g0042 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+11157G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77921992 | |||||||
| chrX:77922143 | T | A | 1 | a0001c0001t0001g0030 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-22+11308T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77922143 | |||||||
| chrX:77923567 | T | C | 3 | a0001c0001t0005g0015 a0001c0001t0010g0013 a0001c0001t0014g0014 |
3 | HG02615.hp2 HG02809.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-22+12732T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77923567 | |||||||
| chrX:77923568 | T | C | 1 | a0002c0002t0003g0035 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-22+12733T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77923568 | |||||||
| chrX:77923571 | C | T | 7 | a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 others(4): Show |
7 | HG01169.hp1 HG01261.hp1 HG01358.hp1 others(4): Show |
intron_variant | MODIFIER | c.-22+12736C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77923571 | |||||||
| chrX:77923579 | CT | C | 8 | a0001c0001t0001g0156 a0001c0001t0004g0208 a0001c0001t0005g0015 others(5): Show |
8 | HG01169.hp1 HG02615.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.-22+12757delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77923579 | ||||||
| chrX:77923950 | A | G | 1 | a0002c0002t0002g0075 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.-22+13115A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77923950 | |||||||
| chrX:77925278 | A | G | 24 | a0001c0001t0004g0144 a0001c0001t0005g0011 a0001c0001t0005g0124 others(21): Show |
24 | HG00558.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.-22+14443A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77925278 | |||||||
| chrX:77925507 | G | T | 33 | a0001c0001t0001g0139 a0001c0001t0004g0144 a0001c0001t0005g0011 others(30): Show |
33 | HG00558.hp2 HG01109.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.-22+14672G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77925507 | |||||||
| chrX:77925513 | G | T | 1 | a0001c0001t0001g0207 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.-22+14678G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77925513 | |||||||
| chrX:77925542 | G | A | 1 | a0002c0002t0002g0043 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-22+14707G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77925542 | |||||||
| chrX:77925810 | G | A | 3 | a0001c0001t0001g0158 a0001c0005t0001g0157 a0001c0005t0001g0159 |
3 | NA18954.hp2 NA18969.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.-22+14975G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77925810 | |||||||
| chrX:77925918 | C | CT | 14 | a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0086 others(11): Show |
14 | HG01496.hp1 HG01517.hp1 HG02273.hp1 others(11): Show |
intron_variant | MODIFIER | c.-22+15096dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77925918 | ||||||
| chrX:77925918 | C | CTT | 128 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0037 others(125): Show |
128 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(125): Show |
intron_variant | MODIFIER | c.-22+15095_-22+1509 others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77925918 | ||||||
| chrX:77925918 | C | CTTT | 9 | a0001c0001t0001g0139 a0001c0001t0005g0136 a0001c0001t0005g0137 others(6): Show |
9 | HG01109.hp1 HG02015.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.-22+15094_-22+1509 others(7): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77925918 | ||||||
| chrX:77926337 | T | A | 1 | a0002c0002t0018g0103 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-22+15502T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77926337 | |||||||
| chrX:77926377 | G | A | 1 | a0002c0002t0002g0033 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-22+15542G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77926377 | |||||||
| chrX:77926589 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-22+15754C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77926589 | |||||||
| chrX:77926764 | G | A | 1 | a0009c0010t0001g0087 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.-22+15929G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77926764 | |||||||
| chrX:77927048 | C | T | 2 | a0001c0001t0001g0139 a0001c0001t0005g0140 |
2 | HG02602.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-22+16213C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77927048 | |||||||
| chrX:77927049 | C | T | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-22+16214C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77927049 | |||||||
| chrX:77927071 | T | C | 1 | a0001c0001t0001g0117 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.-22+16236T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77927071 | |||||||
| chrX:77927750 | A | G | 1 | a0002c0002t0013g0074 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-22+16915A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77927750 | |||||||
| chrX:77927875 | G | A | 1 | a0001c0001t0010g0141 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-22+17040G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77927875 | |||||||
| chrX:77928283 | T | G | 5 | a0001c0001t0001g0007 a0001c0001t0007g0005 a0001c0001t0007g0006 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+17448T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77928283 | |||||||
| chrX:77928405 | TAC | T | 149 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(146): Show |
149 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(146): Show |
intron_variant | MODIFIER | c.-22+17585_-22+1758 others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77928405 | ||||||
| chrX:77929244 | C | T | 1 | a0002c0002t0002g0072 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.-22+18409C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77929244 | |||||||
| chrX:77929495 | C | G | 2 | a0002c0002t0002g0223 a0004c0003t0002g0039 |
2 | HG02135.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.-22+18660C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77929495 | |||||||
| chrX:77929636 | C | CT | 12 | a0001c0001t0001g0007 a0001c0001t0005g0003 a0001c0001t0005g0004 others(9): Show |
12 | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+18816dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77929636 | ||||||
| chrX:77929849 | C | T | 1 | a0001c0001t0001g0154 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-22+19014C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77929849 | |||||||
| chrX:77929976 | A | C | 1 | a0002c0002t0013g0074 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-22+19141A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77929976 | |||||||
| chrX:77930001 | A | C | 23 | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0086 others(20): Show |
23 | HG00544.hp1 HG00558.hp1 HG00673.hp1 others(20): Show |
intron_variant | MODIFIER | c.-22+19166A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77930001 | |||||||
| chrX:77930231 | G | A | 6 | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(3): Show |
6 | HG02602.hp1 HG02965.hp1 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+19396G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77930231 | |||||||
| chrX:77930514 | G | A | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+19679G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77930514 | |||||||
| chrX:77930563 | T | C | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.-22+19728T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77930563 | |||||||
| chrX:77930748 | T | G | 1 | a0002c0002t0003g0031 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-22+19913T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77930748 | |||||||
| chrX:77930985 | C | CT | 10 | a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0156 others(7): Show |
10 | HG02280.hp2 HG02738.hp1 HG04115.hp1 others(7): Show |
intron_variant | MODIFIER | c.-22+20171dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77930985 | ||||||
| chrX:77931006 | T | A | 12 | a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0167 others(9): Show |
12 | HG01074.hp1 HG02602.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+20171T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931006 | |||||||
| chrX:77931007 | A | C | 12 | a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0167 others(9): Show |
12 | HG01074.hp1 HG02602.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+20172A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931007 | |||||||
| chrX:77931009 | C | T | 12 | a0001c0001t0001g0088 a0001c0001t0001g0139 a0001c0001t0001g0167 others(9): Show |
12 | HG01074.hp1 HG02602.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+20174C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931009 | |||||||
| chrX:77931019 | A | T | 2 | a0001c0001t0007g0018 a0001c0001t0007g0019 |
2 | HG01243.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-22+20184A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931019 | |||||||
| chrX:77931220 | C | A | 1 | a0002c0002t0003g0031 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-22+20385C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931220 | |||||||
| chrX:77931221 | G | A | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+20386G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931221 | |||||||
| chrX:77931341 | G | A | 2 | a0001c0001t0015g0163 a0001c0001t0017g0215 |
2 | NA19011.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.-22+20506G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931341 | |||||||
| chrX:77931636 | C | T | 2 | a0001c0001t0008g0122 a0001c0001t0008g0123 |
2 | HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-22+20801C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931636 | |||||||
| chrX:77931637 | G | C | 3 | a0001c0001t0005g0015 a0001c0001t0010g0013 a0001c0001t0014g0014 |
3 | HG02615.hp2 HG02809.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.-22+20802G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931637 | |||||||
| chrX:77931650 | GCCCACCT others(171): Show |
G | 1 | a0001c0001t0010g0013 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-22+20838_-22+2101 others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77931650 | ||||||
| chrX:77931668 | C | T | 1 | a0003c0004t0009g0132 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-22+20833C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931668 | |||||||
| chrX:77931707 | G | C | 1 | a0001c0001t0003g0016 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-22+20872G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931707 | |||||||
| chrX:77931714 | C | T | 3 | a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0064 |
3 | NA18943.hp1 NA18969.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.-22+20879C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931714 | |||||||
| chrX:77931741 | C | G | 1 | a0002c0002t0002g0060 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.-22+20906C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931741 | |||||||
| chrX:77931742 | CGGACGGG others(43): Show |
C | 1 | a0001c0001t0005g0142 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-22+20928_-22+2097 others(54): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77931742 | ||||||
| chrX:77931833 | C | CCTCCCTC others(120): Show |
1 | a0002c0002t0002g0070 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-22+21124_-22+2112 others(131): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77931833 | ||||||
| chrX:77931842 | C | T | 6 | a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0122 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+21007C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931842 | |||||||
| chrX:77931847 | G | A | 1 | a0006c0009t0003g0076 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-22+21012G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931847 | |||||||
| chrX:77931870 | G | C | 1 | a0002c0002t0003g0042 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.-22+21035G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931870 | |||||||
| chrX:77931921 | G | T | 2 | a0001c0001t0004g0152 a0001c0001t0004g0220 |
2 | NA18955.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.-22+21086G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77931921 | |||||||
| chrX:77932120 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21285T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932120 | |||||||
| chrX:77932148 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21313T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932148 | |||||||
| chrX:77932154 | A | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21319A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932154 | |||||||
| chrX:77932161 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21326G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932161 | |||||||
| chrX:77932165 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21330G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932165 | |||||||
| chrX:77932189 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21354G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932189 | |||||||
| chrX:77932194 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21359G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932194 | |||||||
| chrX:77932201 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21366C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932201 | |||||||
| chrX:77932202 | A | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21367A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932202 | |||||||
| chrX:77932217 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21382C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932217 | |||||||
| chrX:77932220 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21385C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932220 | |||||||
| chrX:77932230 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21395T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932230 | |||||||
| chrX:77932231 | C | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21396C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932231 | |||||||
| chrX:77932234 | G | A | 1 | a0007c0007t0005g0138 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-22+21399G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932234 | |||||||
| chrX:77932234 | G | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21399G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932234 | |||||||
| chrX:77932237 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21402C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932237 | |||||||
| chrX:77932241 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21406C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932241 | |||||||
| chrX:77932242 | A | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21407A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932242 | |||||||
| chrX:77932247 | C | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21412C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932247 | |||||||
| chrX:77932257 | A | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21422A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932257 | |||||||
| chrX:77932260 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21425C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932260 | |||||||
| chrX:77932271 | G | GGTTGCCA others(33): Show |
1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21437_-22+2143 others(44): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77932271 | ||||||
| chrX:77932274 | G | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21439G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932274 | |||||||
| chrX:77932275 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21440G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932275 | |||||||
| chrX:77932284 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21449T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932284 | |||||||
| chrX:77932290 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21455C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932290 | |||||||
| chrX:77932292 | A | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21457A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932292 | |||||||
| chrX:77932297 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21462T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932297 | |||||||
| chrX:77932313 | C | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21478C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932313 | |||||||
| chrX:77932322 | A | G | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21487A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932322 | |||||||
| chrX:77932329 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21494T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932329 | |||||||
| chrX:77932333 | T | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21498T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932333 | |||||||
| chrX:77932336 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21501C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932336 | |||||||
| chrX:77932337 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21502T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932337 | |||||||
| chrX:77932343 | G | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21508G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932343 | |||||||
| chrX:77932357 | A | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21522A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932357 | |||||||
| chrX:77932362 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21527G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932362 | |||||||
| chrX:77932397 | C | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+21562C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932397 | |||||||
| chrX:77932633 | C | G | 1 | a0001c0001t0005g0136 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-22+21798C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932633 | |||||||
| chrX:77932778 | G | A | 6 | a0001c0001t0004g0153 a0001c0001t0004g0166 a0001c0001t0004g0168 others(3): Show |
6 | HG00597.hp2 HG02132.hp1 NA18987.hp2 others(3): Show |
intron_variant | MODIFIER | c.-22+21943G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932778 | |||||||
| chrX:77932870 | G | T | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.-22+22035G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932870 | |||||||
| chrX:77932919 | G | GGGGAGA | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+22110_-22+2211 others(10): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77932919 | ||||||
| chrX:77932919 | GGGGAGA | G | 10 | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(7): Show |
10 | HG01109.hp1 HG02280.hp2 HG02602.hp1 others(7): Show |
intron_variant | MODIFIER | c.-22+22110_-22+2211 others(10): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77932919 | ||||||
| chrX:77932949 | A | T | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+22114A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77932949 | |||||||
| chrX:77933379 | AT | A | 9 | a0001c0001t0001g0007 a0001c0001t0005g0015 a0001c0001t0007g0005 others(6): Show |
9 | HG02559.hp2 HG02615.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.-22+22546delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77933379 | ||||||
| chrX:77933420 | G | A | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.-22+22585G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77933420 | |||||||
| chrX:77934242 | C | T | 6 | a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0122 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.-22+23407C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77934242 | |||||||
| chrX:77934567 | G | A | 1 | a0002c0002t0003g0031 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-22+23732G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77934567 | |||||||
| chrX:77934853 | G | GT | 5 | a0001c0001t0001g0100 a0001c0001t0004g0231 a0001c0001t0019g0201 others(2): Show |
5 | HG00621.hp1 HG03831.hp1 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.-22+24034dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77934853 | ||||||
| chrX:77935060 | C | T | 25 | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0086 others(22): Show |
25 | HG00544.hp1 HG00558.hp1 HG00673.hp1 others(22): Show |
intron_variant | MODIFIER | c.-22+24225C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77935060 | |||||||
| chrX:77935189 | A | G | 1 | a0001c0001t0003g0017 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.-22+24354A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77935189 | |||||||
| chrX:77935311 | T | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-22+24476T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77935311 | |||||||
| chrX:77935554 | G | A | 2 | a0001c0001t0001g0161 a0001c0001t0001g0170 |
2 | HG00733.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-22+24719G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77935554 | |||||||
| chrX:77936323 | C | T | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-22+25488C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77936323 | |||||||
| chrX:77936628 | T | C | 1 | a0001c0001t0004g0168 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-22+25793T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77936628 | |||||||
| chrX:77937887 | T | TCA | 15 | a0001c0001t0001g0154 a0001c0001t0004g0144 a0001c0001t0004g0172 others(12): Show |
15 | HG00558.hp2 HG02015.hp1 HG02027.hp1 others(12): Show |
intron_variant | MODIFIER | c.-22+27075_-22+2707 others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77937887 | ||||||
| chrX:77937887 | TCACA | T | 2 | a0001c0001t0001g0139 a0001c0001t0005g0140 |
2 | HG02602.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-22+27073_-22+2707 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77937887 | ||||||
| chrX:77937889 | A | T | 11 | a0001c0001t0001g0117 a0001c0001t0001g0158 a0001c0001t0008g0120 others(8): Show |
11 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(8): Show |
intron_variant | MODIFIER | c.-22+27054A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77937889 | |||||||
| chrX:77937927 | A | C | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-22+27092A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77937927 | |||||||
| chrX:77938187 | G | A | 1 | a0002c0002t0002g0046 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-22+27352G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77938187 | |||||||
| chrX:77939099 | C | G | 1 | a0002c0002t0002g0101 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.-22+28264C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77939099 | |||||||
| chrX:77939161 | G | A | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-22+28326G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77939161 | |||||||
| chrX:77939296 | C | T | 1 | a0002c0002t0018g0103 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-22+28461C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77939296 | |||||||
| chrX:77939297 | A | C | 1 | a0002c0002t0018g0103 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-22+28462A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77939297 | |||||||
| chrX:77939994 | A | C | 2 | a0002c0002t0003g0084 a0002c0002t0003g0085 |
2 | HG02970.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.-22+29159A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77939994 | |||||||
| chrX:77940040 | A | G | 1 | a0001c0001t0005g0218 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-22+29205A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77940040 | |||||||
| chrX:77940120 | A | C | 1 | a0002c0002t0002g0062 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.-22+29285A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77940120 | |||||||
| chrX:77940720 | C | CA | 12 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(9): Show |
12 | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.-22+29891dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77940720 | ||||||
| chrX:77942322 | A | G | 1 | a0001c0001t0010g0141 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-29299A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942322 | |||||||
| chrX:77942451 | G | C | 2 | a0001c0001t0005g0137 a0007c0007t0005g0138 |
2 | HG01109.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.-21-29170G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942451 | |||||||
| chrX:77942455 | G | T | 1 | a0001c0001t0001g0219 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-21-29166G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942455 | |||||||
| chrX:77942511 | C | T | 6 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(3): Show |
6 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-29110C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942511 | |||||||
| chrX:77942633 | G | A | 1 | a0001c0001t0005g0135 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-21-28988G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942633 | |||||||
| chrX:77942778 | A | G | 2 | a0001c0001t0001g0204 a0001c0001t0001g0205 |
2 | NA18951.hp2 NA18995.hp1 |
intron_variant | MODIFIER | c.-21-28843A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942778 | |||||||
| chrX:77942877 | C | T | 1 | a0001c0001t0004g0165 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.-21-28744C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77942877 | |||||||
| chrX:77943714 | C | G | 9 | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(6): Show |
9 | HG01109.hp1 HG02280.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-27907C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77943714 | |||||||
| chrX:77943787 | G | T | 1 | a0002c0002t0003g0069 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.-21-27834G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77943787 | |||||||
| chrX:77943792 | A | G | 1 | a0002c0002t0003g0010 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-21-27829A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77943792 | |||||||
| chrX:77944480 | A | G | 1 | a0001c0001t0005g0135 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-21-27141A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77944480 | |||||||
| chrX:77944606 | T | A | 2 | a0001c0001t0004g0165 a0001c0001t0004g0200 |
2 | NA18947.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.-21-27015T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77944606 | |||||||
| chrX:77944834 | G | GTATT | 16 | a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0175 others(13): Show |
16 | HG00735.hp2 HG02559.hp2 HG02615.hp2 others(13): Show |
intron_variant | MODIFIER | c.-21-26757_-21-2675 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77944834 | ||||||
| chrX:77944834 | G | GTATTTAT others(1): Show |
3 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0038 |
3 | HG00609.hp1 HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-21-26761_-21-2675 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77944834 | ||||||
| chrX:77944995 | C | T | 1 | a0002c0002t0003g0116 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-21-26626C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77944995 | |||||||
| chrX:77945456 | A | T | 1 | a0002c0002t0003g0068 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.-21-26165A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77945456 | |||||||
| chrX:77946299 | C | CA | 7 | a0001c0001t0001g0177 a0001c0001t0004g0200 a0001c0001t0005g0140 others(4): Show |
7 | HG01081.hp1 HG01255.hp1 HG02970.hp2 others(4): Show |
intron_variant | MODIFIER | c.-21-25304dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77946299 | ||||||
| chrX:77946454 | T | C | 1 | a0001c0001t0007g0018 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-21-25167T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77946454 | |||||||
| chrX:77946545 | C | G | 134 | a0001c0001t0001g0139 a0001c0001t0003g0016 a0001c0001t0003g0017 others(131): Show |
135 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(132): Show |
intron_variant | MODIFIER | c.-21-25076C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77946545 | |||||||
| chrX:77946729 | T | TA | 22 | a0001c0001t0001g0117 a0001c0001t0001g0139 a0001c0001t0001g0154 others(19): Show |
22 | HG00544.hp2 HG01109.hp1 HG01255.hp1 others(19): Show |
intron_variant | MODIFIER | c.-21-24871dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77946729 | ||||||
| chrX:77946729 | TA | T | 8 | a0001c0001t0005g0124 a0001c0001t0007g0005 a0001c0001t0007g0008 others(5): Show |
8 | HG01943.hp1 HG02559.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.-21-24871delA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77946729 | ||||||
| chrX:77946988 | A | C | 2 | a0002c0002t0003g0027 a0002c0002t0003g0028 |
2 | HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.-21-24633A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77946988 | |||||||
| chrX:77947240 | G | A | 1 | a0001c0001t0004g0202 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-21-24381G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77947240 | |||||||
| chrX:77947442 | A | AT | 131 | a0001c0001t0001g0139 a0001c0001t0004g0144 a0001c0001t0005g0003 others(128): Show |
132 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(129): Show |
intron_variant | MODIFIER | c.-21-24166dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77947442 | ||||||
| chrX:77947510 | C | G | 1 | a0002c0002t0003g0085 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.-21-24111C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77947510 | |||||||
| chrX:77947737 | A | AT | 83 | a0001c0001t0001g0099 a0001c0001t0001g0154 a0001c0001t0001g0155 others(80): Show |
84 | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(81): Show |
intron_variant | MODIFIER | c.-21-23865dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77947737 | ||||||
| chrX:77947737 | A | ATT | 15 | a0002c0002t0002g0041 a0002c0002t0002g0047 a0002c0002t0002g0050 others(12): Show |
15 | HG00597.hp1 HG01074.hp1 HG02056.hp1 others(12): Show |
intron_variant | MODIFIER | c.-21-23866_-21-2386 others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77947737 | ||||||
| chrX:77948059 | A | ATATT | 23 | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0086 others(20): Show |
23 | HG00558.hp1 HG00597.hp2 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.-21-23521_-21-2351 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948059 | ||||||
| chrX:77948059 | A | ATATTTAT others(1): Show |
3 | a0001c0001t0001g0156 a0001c0001t0001g0204 a0001c0001t0001g0214 |
3 | HG00280.hp1 NA18961.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.-21-23525_-21-2351 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948059 | ||||||
| chrX:77948059 | ATATT | A | 29 | a0001c0001t0001g0007 a0001c0001t0001g0167 a0001c0001t0001g0175 others(26): Show |
29 | HG01169.hp1 HG01243.hp1 HG01261.hp1 others(26): Show |
intron_variant | MODIFIER | c.-21-23521_-21-2351 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948059 | ||||||
| chrX:77948059 | ATATTTAT others(1): Show |
A | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-21-23525_-21-2351 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948059 | ||||||
| chrX:77948059 | ATATTTAT others(5): Show |
A | 1 | a0001c0001t0019g0201 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-21-23529_-21-2351 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948059 | ||||||
| chrX:77948080 | TATTTATT others(17): Show |
T | 3 | a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 |
3 | NA18965.hp1 NA19001.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-21-23537_-21-2351 others(28): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948080 | ||||||
| chrX:77948092 | TATTTATT others(5): Show |
T | 1 | a0002c0002t0003g0082 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-21-23525_-21-2351 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948092 | ||||||
| chrX:77948100 | T | C | 3 | a0001c0001t0005g0004 a0001c0001t0005g0126 a0001c0001t0005g0137 |
3 | HG01109.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.-21-23521T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77948100 | |||||||
| chrX:77948100 | T | TATTC | 6 | a0001c0001t0008g0121 a0001c0001t0008g0123 a0001c0001t0010g0141 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.-21-23500_-21-2349 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948100 | ||||||
| chrX:77948100 | T | TATTTATT others(1): Show |
2 | a0001c0001t0008g0120 a0001c0001t0008g0122 |
2 | HG02922.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-21-23518_-21-2351 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948100 | ||||||
| chrX:77948100 | TATTC | T | 73 | a0001c0001t0001g0092 a0001c0001t0001g0150 a0001c0001t0001g0198 others(70): Show |
74 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(71): Show |
intron_variant | MODIFIER | c.-21-23500_-21-2349 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948100 | ||||||
| chrX:77948104 | C | T | 17 | a0001c0001t0001g0099 a0001c0001t0005g0143 a0002c0002t0002g0036 others(14): Show |
17 | HG00544.hp1 HG01074.hp1 HG01167.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21-23517C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77948104 | |||||||
| chrX:77948290 | G | A | 1 | a0001c0001t0005g0142 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-21-23331G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77948290 | |||||||
| chrX:77948309 | T | C | 1 | a0002c0002t0003g0051 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-21-23312T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77948309 | |||||||
| chrX:77948492 | T | C | 1 | a0002c0002t0002g0115 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.-21-23129T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77948492 | |||||||
| chrX:77948834 | AT | A | 5 | a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-22780delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77948834 | ||||||
| chrX:77948952 | T | C | 136 | a0001c0001t0001g0139 a0001c0001t0003g0016 a0001c0001t0003g0017 others(133): Show |
137 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.-21-22669T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77948952 | |||||||
| chrX:77949081 | A | G | 6 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(3): Show |
6 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-22540A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77949081 | |||||||
| chrX:77950414 | A | G | 24 | a0001c0001t0004g0144 a0001c0001t0005g0011 a0001c0001t0005g0124 others(21): Show |
24 | HG00558.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.-21-21207A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77950414 | |||||||
| chrX:77950477 | G | A | 3 | a0001c0001t0001g0149 a0001c0001t0001g0178 a0001c0001t0001g0203 |
3 | HG02083.hp1 NA19056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.-21-21144G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77950477 | |||||||
| chrX:77950519 | CAT | C | 4 | a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 others(1): Show |
4 | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-21101_-21-2110 others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77950519 | |||||||
| chrX:77950604 | G | C | 1 | a0001c0001t0005g0128 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-21-21017G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77950604 | |||||||
| chrX:77950895 | A | G | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.-21-20726A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77950895 | |||||||
| chrX:77951083 | C | T | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-21-20538C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77951083 | |||||||
| chrX:77951298 | T | G | 1 | a0001c0001t0001g0155 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-21-20323T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77951298 | |||||||
| chrX:77951611 | G | A | 1 | a0001c0001t0019g0201 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-21-20010G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77951611 | |||||||
| chrX:77951730 | C | T | 6 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(3): Show |
6 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21-19891C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77951730 | |||||||
| chrX:77952030 | A | G | 3 | a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0008g0123 |
3 | HG02258.hp1 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.-21-19591A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77952030 | |||||||
| chrX:77952789 | C | CT | 21 | a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0003g0016 others(18): Show |
21 | HG00597.hp1 HG01243.hp1 HG02559.hp2 others(18): Show |
intron_variant | MODIFIER | c.-21-18818dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77952789 | ||||||
| chrX:77954201 | G | A | 1 | a0001c0001t0010g0141 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-17420G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77954201 | |||||||
| chrX:77954804 | C | G | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-21-16817C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77954804 | |||||||
| chrX:77954852 | A | G | 1 | a0002c0002t0002g0062 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.-21-16769A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77954852 | |||||||
| chrX:77954879 | C | T | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-21-16742C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77954879 | |||||||
| chrX:77954891 | T | C | 1 | a0001c0001t0001g0217 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-21-16730T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77954891 | |||||||
| chrX:77954902 | G | A | 2 | a0002c0002t0003g0066 a0002c0002t0003g0069 |
2 | HG01496.hp2 HG01943.hp1 |
intron_variant | MODIFIER | c.-21-16719G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77954902 | |||||||
| chrX:77955461 | C | T | 1 | a0006c0009t0003g0076 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-21-16160C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77955461 | |||||||
| chrX:77955805 | C | G | 5 | a0001c0001t0001g0149 a0001c0001t0001g0178 a0001c0001t0001g0203 others(2): Show |
5 | HG02083.hp1 NA18954.hp1 NA18962.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-15816C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77955805 | |||||||
| chrX:77955967 | A | T | 1 | a0001c0001t0010g0141 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-15654A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77955967 | |||||||
| chrX:77956290 | T | C | 31 | a0001c0001t0001g0139 a0001c0001t0004g0144 a0001c0001t0005g0126 others(28): Show |
31 | HG00558.hp2 HG01109.hp1 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.-21-15331T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956290 | |||||||
| chrX:77956726 | C | CCTTCTTT others(4): Show |
1 | a0001c0001t0004g0172 | 1 | NA19001.hp1 | intron_variant | MODIFIER | c.-21-14892_-21-1489 others(15): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | C | CCTTT | 61 | a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0096 others(58): Show |
61 | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(58): Show |
intron_variant | MODIFIER | c.-21-14836_-21-1483 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | C | CCTTTCTT others(1): Show |
43 | a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0150 others(40): Show |
44 | HG00642.hp1 HG01515.hp1 HG01517.hp1 others(41): Show |
intron_variant | MODIFIER | c.-21-14840_-21-1483 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | C | CCTTTCTT others(5): Show |
20 | a0001c0001t0001g0099 a0001c0001t0001g0195 a0001c0001t0004g0193 others(17): Show |
20 | HG00544.hp1 HG00738.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.-21-14844_-21-1483 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | C | CCTTTCTT others(9): Show |
3 | a0001c0001t0001g0167 a0001c0001t0001g0205 a0002c0002t0003g0222 |
3 | HG03831.hp2 NA18951.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.-21-14848_-21-1483 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | C | CCTTTCTT others(13): Show |
1 | a0001c0001t0001g0170 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.-21-14852_-21-1483 others(24): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | C | CTCTTT | 7 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0129 others(4): Show |
7 | HG00558.hp2 HG02015.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.-21-14895_-21-1489 others(9): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956726 | |||||||
| chrX:77956726 | C | CTCTTTCT others(2): Show |
5 | a0001c0001t0004g0144 a0001c0001t0005g0145 a0001c0001t0005g0147 others(2): Show |
5 | HG01884.hp2 NA18948.hp1 NA18949.hp2 others(2): Show |
intron_variant | MODIFIER | c.-21-14895_-21-1489 others(13): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956726 | |||||||
| chrX:77956726 | C | CTCTTTCT others(6): Show |
2 | a0001c0001t0005g0225 a0003c0004t0009g0131 |
2 | HG02451.hp1 NA18965.hp1 |
intron_variant | MODIFIER | c.-21-14895_-21-1489 others(17): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956726 | |||||||
| chrX:77956726 | C | CTCTTTCT others(10): Show |
1 | a0003c0004t0009g0132 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-21-14895_-21-1489 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956726 | |||||||
| chrX:77956726 | C | CTCTTTCT others(14): Show |
2 | a0003c0004t0009g0133 a0003c0004t0009g0134 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.-21-14895_-21-1489 others(25): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956726 | |||||||
| chrX:77956726 | CCTTT | C | 19 | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0088 others(16): Show |
19 | HG01081.hp2 HG01169.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.-21-14836_-21-1483 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | CCTTTCTT others(1): Show |
C | 11 | a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 others(8): Show |
11 | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(8): Show |
intron_variant | MODIFIER | c.-21-14840_-21-1483 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | CCTTTCTT others(5): Show |
C | 4 | a0001c0001t0008g0120 a0002c0002t0002g0041 a0002c0002t0003g0066 others(1): Show |
4 | HG01496.hp2 HG01943.hp1 NA18952.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-14844_-21-1483 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956726 | ||||||
| chrX:77956726 | CCTTTCTT others(8): Show |
C | 1 | a0001c0001t0010g0021 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-21-14894_-21-1488 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956726 | |||||||
| chrX:77956785 | T | TTCTTTCT others(3): Show |
1 | a0001c0001t0004g0211 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-21-14833_-21-1483 others(14): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956785 | ||||||
| chrX:77956789 | C | T | 1 | a0004c0003t0002g0039 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.-21-14832C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956789 | |||||||
| chrX:77956790 | T | TCTTTCTT others(7): Show |
1 | a0004c0003t0002g0039 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.-21-14831_-21-1483 others(18): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77956790 | |||||||
| chrX:77956797 | C | CT | 9 | a0001c0001t0001g0156 a0001c0001t0001g0167 a0001c0001t0001g0195 others(6): Show |
9 | HG02970.hp1 NA18961.hp1 NA18995.hp1 others(6): Show |
intron_variant | MODIFIER | c.-21-14810dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77956797 | ||||||
| chrX:77957072 | C | T | 21 | a0001c0001t0004g0144 a0001c0001t0005g0126 a0001c0001t0005g0127 others(18): Show |
21 | HG00558.hp2 HG01167.hp1 HG01169.hp2 others(18): Show |
intron_variant | MODIFIER | c.-21-14549C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77957072 | |||||||
| chrX:77957100 | T | C | 1 | a0001c0001t0019g0201 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.-21-14521T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77957100 | |||||||
| chrX:77957226 | T | A | 5 | a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-14395T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77957226 | |||||||
| chrX:77957270 | T | C | 1 | a0004c0003t0002g0039 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.-21-14351T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77957270 | |||||||
| chrX:77957789 | C | A | 1 | a0001c0001t0005g0147 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.-21-13832C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77957789 | |||||||
| chrX:77957846 | G | A | 1 | a0001c0001t0004g0165 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.-21-13775G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77957846 | |||||||
| chrX:77958335 | G | A | 1 | a0002c0002t0002g0053 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.-21-13286G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77958335 | |||||||
| chrX:77958447 | T | G | 1 | a0001c0001t0004g0168 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.-21-13174T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77958447 | |||||||
| chrX:77958785 | G | GT | 28 | a0001c0001t0001g0117 a0001c0001t0001g0150 a0001c0001t0001g0154 others(25): Show |
28 | HG00558.hp2 HG00597.hp1 HG00597.hp2 others(25): Show |
intron_variant | MODIFIER | c.-21-12816dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chrX | 77958785 | ||||||
| chrX:77958896 | C | G | 19 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0005g0003 others(16): Show |
19 | HG01243.hp1 HG02258.hp1 HG02559.hp2 others(16): Show |
intron_variant | MODIFIER | c.-21-12725C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77958896 | |||||||
| chrX:77959008 | G | A | 2 | a0001c0001t0003g0016 a0001c0001t0003g0017 |
2 | HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-21-12613G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77959008 | |||||||
| chrX:77959420 | T | G | 2 | a0001c0001t0005g0225 a0001c0001t0005g0226 |
2 | NA18965.hp1 NA19074.hp2 |
intron_variant | MODIFIER | c.-21-12201T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77959420 | |||||||
| chrX:77959979 | C | T | 3 | a0001c0001t0001g0139 a0001c0001t0005g0140 a0001c0001t0005g0148 |
3 | HG02602.hp1 HG03239.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.-21-11642C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77959979 | |||||||
| chrX:77960086 | A | T | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.-21-11535A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77960086 | |||||||
| chrX:77960297 | A | C | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-21-11324A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77960297 | |||||||
| chrX:77960473 | A | G | 4 | a0004c0003t0002g0045 a0004c0003t0002g0059 a0004c0003t0002g0061 others(1): Show |
4 | NA18940.hp1 NA18960.hp1 NA18989.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-11148A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77960473 | |||||||
| chrX:77960477 | T | G | 1 | a0001c0001t0004g0213 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-21-11144T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77960477 | |||||||
| chrX:77960486 | T | C | 1 | a0001c0001t0001g0007 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.-21-11135T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77960486 | |||||||
| chrX:77960692 | C | G | 2 | a0001c0001t0003g0016 a0001c0001t0003g0017 |
2 | HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-21-10929C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77960692 | |||||||
| chrX:77961065 | T | C | 1 | a0001c0001t0004g0144 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.-21-10556T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77961065 | |||||||
| chrX:77961289 | A | G | 2 | a0002c0002t0002g0036 a0002c0002t0002g0058 |
2 | HG03239.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.-21-10332A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77961289 | |||||||
| chrX:77961411 | G | A | 1 | a0001c0001t0001g0098 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-21-10210G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77961411 | |||||||
| chrX:77962233 | A | G | 1 | a0001c0001t0007g0022 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.-21-9388A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77962233 | |||||||
| chrX:77962673 | G | A | 1 | a0002c0002t0011g0073 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.-21-8948G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77962673 | |||||||
| chrX:77962766 | G | A | 1 | a0002c0002t0003g0114 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-21-8855G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77962766 | |||||||
| chrX:77962807 | C | T | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.-21-8814C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77962807 | |||||||
| chrX:77962914 | T | C | 2 | a0001c0001t0007g0018 a0001c0001t0007g0019 |
2 | HG01243.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.-21-8707T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77962914 | |||||||
| chrX:77962929 | A | T | 1 | a0001c0001t0010g0141 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-21-8692A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77962929 | |||||||
| chrX:77963452 | G | C | 1 | a0001c0001t0005g0127 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-21-8169G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77963452 | |||||||
| chrX:77963629 | T | C | 1 | a0002c0002t0002g0067 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-21-7992T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77963629 | |||||||
| chrX:77963631 | A | G | 56 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(53): Show |
57 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(54): Show |
intron_variant | MODIFIER | c.-21-7990A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77963631 | |||||||
| chrX:77964468 | T | C | 33 | a0002c0002t0002g0033 a0002c0002t0002g0040 a0002c0002t0002g0041 others(30): Show |
34 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(31): Show |
intron_variant | MODIFIER | c.-21-7153T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77964468 | |||||||
| chrX:77964576 | C | A | 1 | a0002c0002t0003g0034 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-21-7045C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77964576 | |||||||
| chrX:77964683 | A | G | 3 | a0001c0001t0001g0158 a0001c0005t0001g0157 a0001c0005t0001g0159 |
3 | NA18954.hp2 NA18969.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.-21-6938A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77964683 | |||||||
| chrX:77965670 | T | G | 4 | a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0211 others(1): Show |
4 | HG01169.hp1 HG01261.hp1 HG01358.hp1 others(1): Show |
intron_variant | MODIFIER | c.-21-5951T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77965670 | |||||||
| chrX:77966367 | T | C | 1 | a0002c0002t0003g0068 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.-21-5254T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77966367 | |||||||
| chrX:77966783 | T | C | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-21-4838T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77966783 | |||||||
| chrX:77967031 | C | T | 1 | a0001c0001t0005g0148 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-21-4590C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77967031 | |||||||
| chrX:77967382 | G | A | 2 | a0001c0001t0004g0151 a0001c0001t0004g0229 |
2 | HG02071.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.-21-4239G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77967382 | |||||||
| chrX:77967531 | G | C | 2 | a0001c0001t0001g0139 a0001c0001t0005g0143 |
2 | HG02602.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.-21-4090G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77967531 | |||||||
| chrX:77967624 | G | T | 20 | a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044 others(17): Show |
21 | HG00438.hp1 HG00597.hp1 HG02080.hp1 others(18): Show |
intron_variant | MODIFIER | c.-21-3997G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77967624 | |||||||
| chrX:77967872 | A | C | 1 | a0002c0002t0002g0033 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.-21-3749A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77967872 | |||||||
| chrX:77968697 | G | C | 1 | a0004c0003t0002g0059 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-21-2924G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77968697 | |||||||
| chrX:77969117 | C | G | 1 | a0002c0002t0002g0065 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-21-2504C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77969117 | |||||||
| chrX:77969370 | C | T | 13 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(10): Show |
13 | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.-21-2251C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77969370 | |||||||
| chrX:77969516 | G | A | 1 | a0001c0001t0001g0158 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.-21-2105G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77969516 | |||||||
| chrX:77969602 | C | T | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.-21-2019C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77969602 | |||||||
| chrX:77970066 | T | G | 1 | a0001c0001t0008g0123 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-21-1555T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970066 | |||||||
| chrX:77970133 | A | G | 5 | a0001c0001t0005g0015 a0001c0001t0007g0022 a0001c0001t0010g0013 others(2): Show |
5 | HG02615.hp2 HG02809.hp1 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21-1488A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970133 | |||||||
| chrX:77970375 | G | C | 1 | a0001c0008t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-21-1246G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970375 | |||||||
| chrX:77970495 | A | G | 1 | a0001c0001t0004g0231 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-21-1126A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970495 | |||||||
| chrX:77970743 | C | T | 1 | a0001c0001t0005g0136 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-21-878C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970743 | |||||||
| chrX:77970820 | C | A | 1 | a0001c0001t0020g0012 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-21-801C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970820 | |||||||
| chrX:77970820 | C | T | 1 | a0001c0001t0004g0166 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.-21-801C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970820 | |||||||
| chrX:77970974 | A | T | 1 | a0001c0001t0007g0005 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-21-647A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77970974 | |||||||
| chrX:77971163 | G | C | 1 | a0001c0001t0001g0092 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-21-458G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77971163 | |||||||
| chrX:77971231 | A | G | 1 | a0001c0001t0020g0012 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.-21-390A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77971231 | |||||||
| chrX:77971268 | A | G | 2 | a0001c0001t0003g0016 a0001c0001t0003g0017 |
2 | HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.-21-353A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 1/22 | chrX | 77971268 | |||||||
| chrX:77971797 | T | C | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.120+36T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77971797 | |||||||
| chrX:77971955 | A | G | 30 | a0002c0002t0002g0033 a0002c0002t0002g0040 a0002c0002t0002g0041 others(27): Show |
31 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(28): Show |
intron_variant | MODIFIER | c.120+194A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77971955 | |||||||
| chrX:77972089 | G | C | 13 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(10): Show |
13 | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.120+328G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77972089 | |||||||
| chrX:77972107 | C | T | 1 | a0003c0004t0009g0130 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.120+346C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77972107 | |||||||
| chrX:77972123 | A | G | 4 | a0001c0001t0001g0162 a0001c0001t0001g0186 a0001c0001t0001g0190 others(1): Show |
4 | HG01256.hp1 HG01496.hp1 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.120+362A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77972123 | |||||||
| chrX:77972702 | A | G | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.120+941A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77972702 | |||||||
| chrX:77973084 | G | T | 1 | a0001c0001t0001g0029 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.120+1323G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77973084 | |||||||
| chrX:77973259 | C | A | 1 | a0001c0001t0008g0120 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.120+1498C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77973259 | |||||||
| chrX:77973850 | A | C | 12 | a0001c0001t0004g0160 a0001c0001t0004g0185 a0001c0001t0004g0189 others(9): Show |
12 | HG01169.hp1 HG01261.hp1 HG01358.hp1 others(9): Show |
intron_variant | MODIFIER | c.120+2089A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77973850 | |||||||
| chrX:77974148 | G | GT | 7 | a0001c0001t0005g0015 a0001c0001t0007g0022 a0001c0001t0008g0121 others(4): Show |
7 | HG02258.hp1 HG02615.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.120+2402dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77974148 | ||||||
| chrX:77974155 | T | G | 24 | a0001c0001t0004g0144 a0001c0001t0005g0011 a0001c0001t0005g0124 others(21): Show |
24 | HG00558.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
intron_variant | MODIFIER | c.120+2394T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77974155 | |||||||
| chrX:77975248 | C | T | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.120+3487C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975248 | |||||||
| chrX:77975459 | C | T | 1 | a0002c0002t0002g0199 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.120+3698C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975459 | |||||||
| chrX:77975481 | C | CT | 14 | a0001c0001t0001g0117 a0001c0001t0001g0155 a0001c0001t0001g0219 others(11): Show |
14 | HG01243.hp1 HG02074.hp1 HG03209.hp1 others(11): Show |
intron_variant | MODIFIER | c.120+3747dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77975481 | ||||||
| chrX:77975481 | CT | C | 95 | a0001c0001t0001g0093 a0001c0001t0001g0161 a0001c0001t0001g0164 others(92): Show |
96 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(93): Show |
intron_variant | MODIFIER | c.120+3747delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77975481 | ||||||
| chrX:77975508 | T | A | 29 | a0001c0001t0001g0139 a0001c0001t0004g0144 a0001c0001t0005g0126 others(26): Show |
29 | HG00558.hp2 HG01109.hp1 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.120+3747T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975508 | |||||||
| chrX:77975508 | T | TA | 4 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(1): Show |
4 | HG01169.hp2 HG01884.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.120+3748dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77975508 | ||||||
| chrX:77975516 | A | C | 1 | a0001c0001t0005g0011 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.120+3755A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975516 | |||||||
| chrX:77975734 | G | A | 1 | a0001c0001t0001g0158 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.120+3973G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975734 | |||||||
| chrX:77975839 | G | C | 23 | a0002c0002t0003g0032 a0002c0002t0003g0034 a0002c0002t0003g0035 others(20): Show |
23 | HG00733.hp2 HG00735.hp2 HG00738.hp1 others(20): Show |
intron_variant | MODIFIER | c.120+4078G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975839 | |||||||
| chrX:77975844 | A | T | 5 | a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+4083A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77975844 | |||||||
| chrX:77976122 | A | T | 14 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(11): Show |
14 | HG02258.hp1 HG02559.hp2 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.120+4361A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77976122 | |||||||
| chrX:77977232 | A | C | 2 | a0001c0001t0005g0127 a0001c0001t0005g0129 |
2 | HG02615.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.120+5471A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77977232 | |||||||
| chrX:77977588 | G | A | 1 | a0001c0001t0001g0198 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.120+5827G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77977588 | |||||||
| chrX:77977750 | C | A | 2 | a0001c0001t0004g0165 a0001c0001t0004g0200 |
2 | NA18947.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.120+5989C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77977750 | |||||||
| chrX:77978612 | T | A | 1 | a0001c0001t0001g0219 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.120+6851T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77978612 | |||||||
| chrX:77979075 | G | A | 1 | a0001c0001t0001g0219 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.120+7314G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77979075 | |||||||
| chrX:77979590 | G | A | 1 | a0002c0002t0002g0047 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.120+7829G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77979590 | |||||||
| chrX:77980764 | G | A | 56 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(53): Show |
57 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(54): Show |
intron_variant | MODIFIER | c.121-7478G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77980764 | |||||||
| chrX:77981172 | C | T | 4 | a0001c0001t0007g0006 a0001c0001t0007g0008 a0001c0001t0007g0009 others(1): Show |
4 | HG02895.hp1 HG02897.hp1 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.121-7070C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77981172 | |||||||
| chrX:77981220 | G | C | 1 | a0005c0006t0008g0118 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.121-7022G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77981220 | |||||||
| chrX:77981588 | T | C | 1 | a0001c0001t0004g0166 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.121-6654T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77981588 | |||||||
| chrX:77982054 | T | C | 1 | a0001c0001t0005g0147 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.121-6188T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77982054 | |||||||
| chrX:77982693 | G | A | 2 | a0001c0001t0005g0127 a0001c0001t0005g0129 |
2 | HG02615.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.121-5549G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77982693 | |||||||
| chrX:77983238 | A | G | 5 | a0001c0001t0001g0049 a0001c0001t0001g0161 a0001c0001t0001g0170 others(2): Show |
5 | HG00733.hp1 HG01517.hp1 HG02080.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-5004A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77983238 | |||||||
| chrX:77983716 | T | C | 1 | a0001c0001t0004g0212 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.121-4526T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77983716 | |||||||
| chrX:77983734 | T | A | 3 | a0001c0001t0008g0121 a0001c0001t0008g0122 a0001c0001t0008g0123 |
3 | HG02258.hp1 HG02922.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.121-4508T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77983734 | |||||||
| chrX:77983979 | C | T | 6 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(3): Show |
6 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-4263C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77983979 | |||||||
| chrX:77984275 | G | A | 31 | a0001c0001t0001g0139 a0001c0001t0004g0144 a0001c0001t0005g0126 others(28): Show |
31 | HG00558.hp2 HG01109.hp1 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.121-3967G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77984275 | |||||||
| chrX:77984572 | G | T | 1 | a0001c0001t0001g0204 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.121-3670G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77984572 | |||||||
| chrX:77984655 | C | T | 1 | a0001c0001t0001g0183 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.121-3587C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77984655 | |||||||
| chrX:77985083 | G | A | 4 | a0001c0001t0001g0162 a0001c0001t0001g0186 a0001c0001t0001g0190 others(1): Show |
4 | HG01256.hp1 HG01496.hp1 HG01928.hp1 others(1): Show |
intron_variant | MODIFIER | c.121-3159G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77985083 | |||||||
| chrX:77985162 | G | C | 1 | a0001c0001t0003g0017 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.121-3080G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77985162 | |||||||
| chrX:77985168 | GTCACCAT others(10): Show |
G | 3 | a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 |
3 | NA18965.hp1 NA19001.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.121-3072_121-3056d others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77985168 | ||||||
| chrX:77985187 | T | A | 3 | a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 |
3 | NA18965.hp1 NA19001.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.121-3055T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77985187 | |||||||
| chrX:77985188 | T | G | 3 | a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 |
3 | NA18965.hp1 NA19001.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.121-3054T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77985188 | |||||||
| chrX:77985448 | A | T | 1 | a0001c0001t0010g0021 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.121-2794A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77985448 | |||||||
| chrX:77985646 | G | GT | 82 | a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0155 others(79): Show |
83 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
intron_variant | MODIFIER | c.121-2588dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77985646 | ||||||
| chrX:77985735 | G | T | 2 | a0001c0001t0003g0016 a0001c0001t0003g0017 |
2 | HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.121-2507G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77985735 | |||||||
| chrX:77986643 | G | A | 12 | a0001c0001t0004g0144 a0001c0001t0005g0011 a0001c0001t0005g0124 others(9): Show |
12 | HG00558.hp2 HG02015.hp1 HG02165.hp2 others(9): Show |
intron_variant | MODIFIER | c.121-1599G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77986643 | |||||||
| chrX:77987084 | G | C | 1 | a0001c0001t0001g0154 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.121-1158G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77987084 | |||||||
| chrX:77987164 | T | G | 1 | a0002c0002t0003g0222 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.121-1078T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77987164 | |||||||
| chrX:77987217 | G | A | 6 | a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0122 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.121-1025G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77987217 | |||||||
| chrX:77987444 | T | TGTG | 3 | a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0004g0169 |
3 | HG00733.hp1 HG01081.hp1 NA18987.hp2 |
intron_variant | MODIFIER | c.121-798_121-797ins others(3): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77987444 | |||||||
| chrX:77987444 | T | TTG | 79 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(76): Show |
79 | HG00140.hp1 HG00558.hp1 HG00642.hp1 others(76): Show |
intron_variant | MODIFIER | c.121-756_121-755dup others(2): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77987444 | ||||||
| chrX:77987444 | T | TTGTG | 54 | a0001c0001t0001g0030 a0001c0001t0001g0117 a0001c0001t0001g0139 others(51): Show |
54 | HG00735.hp2 HG00738.hp1 HG01069.hp1 others(51): Show |
intron_variant | MODIFIER | c.121-758_121-755dup others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77987444 | ||||||
| chrX:77987444 | T | TTGTGTG | 25 | a0001c0001t0004g0144 a0001c0001t0005g0011 a0001c0001t0005g0124 others(22): Show |
25 | HG00558.hp2 HG00733.hp2 HG01081.hp2 others(22): Show |
intron_variant | MODIFIER | c.121-760_121-755dup others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77987444 | ||||||
| chrX:77987444 | TTG | T | 3 | a0001c0001t0001g0049 a0001c0001t0004g0153 a0001c0001t0004g0216 |
3 | HG00597.hp2 HG02080.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.121-756_121-755del others(2): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77987444 | ||||||
| chrX:77987457 | T | TGTGC | 50 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(47): Show |
51 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(48): Show |
intron_variant | MODIFIER | c.121-782_121-781ins others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chrX | 77987457 | ||||||
| chrX:77987461 | T | C | 3 | a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0064 |
3 | NA18943.hp1 NA18969.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.121-781T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77987461 | |||||||
| chrX:77987819 | T | C | 3 | a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0065 |
3 | HG00597.hp1 NA18952.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.121-423T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77987819 | |||||||
| chrX:77988061 | T | C | 1 | a0001c0001t0019g0201 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.121-181T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 2/22 | chrX | 77988061 | |||||||
| chrX:77988739 | G | A | 2 | a0001c0001t0008g0122 a0001c0001t0008g0123 |
2 | HG02922.hp2 HG03195.hp2 |
splice_region_variant&intron_variant | LOW | c.610+8G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 3/22 | chrX | 77988739 | |||||||
| chrX:77990012 | T | C | 5 | a0001c0001t0005g0147 a0001c0001t0005g0225 a0001c0001t0005g0226 others(2): Show |
5 | HG02165.hp2 NA18949.hp2 NA18965.hp1 others(2): Show |
intron_variant | MODIFIER | c.1336+54T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77990012 | |||||||
| chrX:77990184 | A | G | 1 | a0002c0002t0002g0062 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1336+226A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77990184 | |||||||
| chrX:77990344 | C | T | 14 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(11): Show |
14 | HG02258.hp1 HG02559.hp2 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.1336+386C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77990344 | |||||||
| chrX:77990738 | A | G | 1 | a0002c0002t0002g0057 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1336+780A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77990738 | |||||||
| chrX:77991218 | C | A | 1 | a0001c0001t0001g0175 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1336+1260C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77991218 | |||||||
| chrX:77991932 | A | G | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1336+1974A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77991932 | |||||||
| chrX:77992256 | G | A | 2 | a0001c0001t0007g0006 a0001c0001t0007g0171 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1336+2298G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77992256 | |||||||
| chrX:77992680 | C | T | 1 | a0001c0001t0005g0147 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1336+2722C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77992680 | |||||||
| chrX:77992928 | T | A | 1 | a0001c0001t0004g0229 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.1336+2970T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77992928 | |||||||
| chrX:77993336 | C | A | 1 | a0001c0001t0010g0013 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1336+3378C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77993336 | |||||||
| chrX:77994171 | T | G | 1 | a0001c0001t0005g0126 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1336+4213T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77994171 | |||||||
| chrX:77994631 | C | T | 9 | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(6): Show |
9 | HG01109.hp1 HG02280.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.1337-3847C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77994631 | |||||||
| chrX:77994643 | G | C | 1 | a0001c0001t0005g0129 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1337-3835G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77994643 | |||||||
| chrX:77995302 | C | T | 13 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(10): Show |
13 | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1337-3176C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77995302 | |||||||
| chrX:77995307 | G | A | 4 | a0001c0001t0004g0144 a0001c0001t0005g0142 a0001c0001t0005g0145 others(1): Show |
4 | HG00558.hp2 HG02015.hp1 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.1337-3171G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77995307 | |||||||
| chrX:77995567 | CA | C | 127 | a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0139 others(124): Show |
128 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(125): Show |
intron_variant | MODIFIER | c.1337-2890delA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chrX | 77995567 | ||||||
| chrX:77995893 | G | A | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1337-2585G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77995893 | |||||||
| chrX:77996004 | C | G | 1 | a0002c0002t0002g0064 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.1337-2474C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77996004 | |||||||
| chrX:77996036 | T | C | 134 | a0001c0001t0001g0139 a0001c0001t0003g0016 a0001c0001t0003g0017 others(131): Show |
135 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(132): Show |
intron_variant | MODIFIER | c.1337-2442T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77996036 | |||||||
| chrX:77996211 | C | T | 3 | a0002c0002t0002g0052 a0002c0002t0002g0055 a0002c0002t0002g0056 |
3 | HG02040.hp1 NA18947.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.1337-2267C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77996211 | |||||||
| chrX:77996260 | T | C | 1 | a0001c0001t0004g0200 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1337-2218T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77996260 | |||||||
| chrX:77996780 | CT | C | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1337-1689delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chrX | 77996780 | ||||||
| chrX:77997172 | A | G | 2 | a0002c0002t0002g0055 a0002c0002t0002g0056 |
2 | NA18947.hp2 NA19082.hp1 |
intron_variant | MODIFIER | c.1337-1306A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77997172 | |||||||
| chrX:77997565 | T | G | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1337-913T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77997565 | |||||||
| chrX:77997592 | G | A | 20 | a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0044 others(17): Show |
21 | HG00438.hp1 HG00597.hp1 HG02080.hp1 others(18): Show |
intron_variant | MODIFIER | c.1337-886G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77997592 | |||||||
| chrX:77997689 | A | G | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0007g0018 others(2): Show |
5 | HG01243.hp1 HG03041.hp2 HG03453.hp1 others(2): Show |
intron_variant | MODIFIER | c.1337-789A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77997689 | |||||||
| chrX:77997994 | C | A | 3 | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 |
3 | HG00140.hp1 HG01081.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.1337-484C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 4/22 | chrX | 77997994 | |||||||
| chrX:77998768 | G | GT | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1543+86dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 77998768 | ||||||
| chrX:77998915 | TA | T | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.1543+240delA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 77998915 | ||||||
| chrX:77998998 | A | AT | 5 | a0001c0001t0001g0100 a0001c0001t0004g0153 a0002c0002t0003g0024 others(2): Show |
5 | HG00733.hp2 HG04184.hp2 NA18985.hp1 others(2): Show |
intron_variant | MODIFIER | c.1543+330dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 77998998 | ||||||
| chrX:77999099 | C | T | 1 | a0002c0002t0003g0010 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1543+415C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 77999099 | |||||||
| chrX:77999486 | C | A | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1543+802C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 77999486 | |||||||
| chrX:77999628 | G | T | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1543+944G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 77999628 | |||||||
| chrX:77999643 | C | T | 5 | a0001c0001t0008g0120 a0001c0001t0008g0122 a0001c0001t0008g0123 others(2): Show |
5 | HG02280.hp1 HG02886.hp1 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.1543+959C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 77999643 | |||||||
| chrX:77999907 | C | CA | 26 | a0001c0001t0001g0007 a0001c0001t0001g0139 a0001c0001t0001g0174 others(23): Show |
26 | HG00597.hp2 HG00609.hp1 HG01109.hp1 others(23): Show |
intron_variant | MODIFIER | c.1543+1241dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 77999907 | ||||||
| chrX:78000217 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1543+1533C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78000217 | |||||||
| chrX:78000693 | C | T | 2 | a0001c0001t0005g0015 a0001c0001t0010g0013 |
2 | HG02615.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1543+2009C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78000693 | |||||||
| chrX:78000820 | A | G | 1 | a0001c0001t0004g0202 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1543+2136A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78000820 | |||||||
| chrX:78001026 | T | A | 1 | a0001c0001t0007g0005 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1544-2047T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78001026 | |||||||
| chrX:78001445 | C | CT | 136 | a0001c0001t0001g0139 a0001c0001t0003g0016 a0001c0001t0003g0017 others(133): Show |
137 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.1544-1626dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78001445 | ||||||
| chrX:78002074 | AT | A | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1544-986delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002074 | ||||||
| chrX:78002144 | A | T | 1 | a0007c0007t0005g0138 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1544-929A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78002144 | |||||||
| chrX:78002223 | C | T | 3 | a0001c0001t0008g0120 a0005c0006t0008g0118 a0005c0006t0008g0119 |
3 | HG02280.hp1 HG02886.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1544-850C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78002223 | |||||||
| chrX:78002244 | A | AT | 10 | a0001c0001t0001g0100 a0001c0001t0001g0180 a0001c0001t0005g0224 others(7): Show |
10 | HG00735.hp1 HG00735.hp2 HG01081.hp2 others(7): Show |
intron_variant | MODIFIER | c.1544-811dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002244 | ||||||
| chrX:78002262 | T | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1544-811T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78002262 | |||||||
| chrX:78002737 | A | G | 1 | a0001c0001t0001g0178 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.1544-336A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78002737 | |||||||
| chrX:78002799 | T | TAC | 27 | a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0098 others(24): Show |
27 | HG01243.hp1 HG01255.hp1 HG02145.hp1 others(24): Show |
intron_variant | MODIFIER | c.1544-230_1544-229d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002799 | ||||||
| chrX:78002799 | T | TACAC | 8 | a0001c0001t0001g0097 a0001c0001t0001g0139 a0001c0001t0003g0017 others(5): Show |
8 | HG00558.hp1 HG02602.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.1544-232_1544-229d others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002799 | ||||||
| chrX:78002799 | T | TACACAC | 3 | a0001c0001t0003g0016 a0001c0001t0008g0122 a0002c0002t0002g0040 |
3 | HG02922.hp2 NA19066.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1544-234_1544-229d others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002799 | ||||||
| chrX:78002799 | TAC | T | 47 | a0001c0001t0001g0037 a0001c0001t0001g0162 a0001c0001t0001g0186 others(44): Show |
47 | HG00558.hp2 HG00735.hp1 HG01074.hp1 others(44): Show |
intron_variant | MODIFIER | c.1544-230_1544-229d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002799 | ||||||
| chrX:78002799 | TACAC | T | 17 | a0001c0001t0001g0029 a0001c0001t0001g0155 a0001c0001t0005g0143 others(14): Show |
17 | HG00735.hp2 HG00738.hp1 HG01081.hp2 others(14): Show |
intron_variant | MODIFIER | c.1544-232_1544-229d others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002799 | ||||||
| chrX:78002799 | TACACAC | T | 3 | a0001c0001t0001g0150 a0001c0001t0001g0198 a0003c0004t0009g0130 |
3 | HG00642.hp1 HG01884.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.1544-234_1544-229d others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chrX | 78002799 | ||||||
| chrX:78002918 | G | T | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1544-155G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78002918 | |||||||
| chrX:78003001 | A | G | 1 | a0001c0001t0005g0128 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1544-72A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 5/22 | chrX | 78003001 | |||||||
| chrX:78003510 | A | G | 1 | a0001c0001t0005g0136 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1707+274A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78003510 | |||||||
| chrX:78004122 | GACAAGTA others(26): Show |
G | 1 | a0001c0001t0007g0018 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1707+887_1707+919d others(35): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004122 | |||||||
| chrX:78004123 | A | G | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1707+887A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004123 | |||||||
| chrX:78004144 | G | A | 1 | a0002c0002t0002g0047 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1707+908G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004144 | |||||||
| chrX:78004232 | AC | A | 9 | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(6): Show |
9 | HG01109.hp1 HG02280.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.1707+997delC | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004232 | |||||||
| chrX:78004289 | C | G | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1707+1053C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004289 | |||||||
| chrX:78004355 | A | G | 1 | a0002c0002t0003g0083 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1707+1119A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004355 | |||||||
| chrX:78004578 | C | T | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1707+1342C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004578 | |||||||
| chrX:78004648 | C | T | 1 | a0001c0001t0007g0005 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1707+1412C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004648 | |||||||
| chrX:78004663 | A | C | 1 | a0001c0001t0005g0128 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1707+1427A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004663 | |||||||
| chrX:78004711 | C | T | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1707+1475C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004711 | |||||||
| chrX:78004753 | T | C | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1707+1517T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004753 | |||||||
| chrX:78004861 | C | T | 5 | a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.1707+1625C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78004861 | |||||||
| chrX:78005309 | T | G | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1707+2073T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005309 | |||||||
| chrX:78005321 | A | G | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1707+2085A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005321 | |||||||
| chrX:78005343 | C | A | 2 | a0001c0001t0001g0180 a0001c0001t0001g0214 |
2 | HG00280.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.1707+2107C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005343 | |||||||
| chrX:78005447 | T | G | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1707+2211T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005447 | |||||||
| chrX:78005492 | G | A | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1707+2256G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005492 | |||||||
| chrX:78005556 | G | A | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1707+2320G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005556 | |||||||
| chrX:78005683 | C | CA | 77 | a0001c0001t0001g0155 a0001c0001t0001g0197 a0001c0001t0004g0213 others(74): Show |
78 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(75): Show |
intron_variant | MODIFIER | c.1707+2470dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chrX | 78005683 | ||||||
| chrX:78005683 | CA | C | 11 | a0001c0001t0001g0030 a0001c0001t0001g0089 a0001c0001t0001g0139 others(8): Show |
11 | HG02602.hp1 HG02615.hp2 HG02683.hp2 others(8): Show |
intron_variant | MODIFIER | c.1707+2470delA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chrX | 78005683 | ||||||
| chrX:78005683 | CAAAAAAA others(7): Show |
C | 3 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0008g0123 |
3 | HG03041.hp2 HG03195.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1707+2457_1707+247 others(18): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chrX | 78005683 | ||||||
| chrX:78005700 | A | G | 1 | a0001c0001t0020g0012 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.1707+2464A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005700 | |||||||
| chrX:78005703 | A | AG | 2 | a0002c0002t0002g0223 a0004c0003t0002g0039 |
2 | HG02135.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.1707+2467_1707+246 others(5): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005703 | |||||||
| chrX:78005747 | G | A | 1 | a0002c0002t0002g0056 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1707+2511G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005747 | |||||||
| chrX:78005832 | T | G | 136 | a0001c0001t0001g0139 a0001c0001t0003g0016 a0001c0001t0003g0017 others(133): Show |
137 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(134): Show |
intron_variant | MODIFIER | c.1707+2596T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005832 | |||||||
| chrX:78005914 | G | A | 1 | a0001c0001t0010g0141 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1707+2678G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78005914 | |||||||
| chrX:78006026 | A | G | 1 | a0001c0001t0001g0117 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1707+2790A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78006026 | |||||||
| chrX:78006133 | A | G | 9 | a0001c0001t0001g0139 a0001c0001t0005g0135 a0001c0001t0005g0136 others(6): Show |
9 | HG01109.hp1 HG02280.hp2 HG02602.hp1 others(6): Show |
intron_variant | MODIFIER | c.1707+2897A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78006133 | |||||||
| chrX:78006261 | A | T | 1 | a0002c0002t0002g0053 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.1708-2841A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78006261 | |||||||
| chrX:78006653 | A | G | 1 | a0001c0001t0010g0021 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1708-2449A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78006653 | |||||||
| chrX:78006879 | C | T | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1708-2223C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78006879 | |||||||
| chrX:78007031 | GT | G | 13 | a0001c0001t0005g0003 a0001c0001t0005g0004 a0001c0001t0005g0015 others(10): Show |
13 | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1708-2070delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78007031 | |||||||
| chrX:78007267 | T | C | 1 | a0001c0001t0001g0191 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.1708-1835T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78007267 | |||||||
| chrX:78007389 | G | A | 2 | a0002c0002t0002g0223 a0004c0003t0002g0039 |
2 | HG02135.hp1 HG02165.hp1 |
intron_variant | MODIFIER | c.1708-1713G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78007389 | |||||||
| chrX:78007419 | A | G | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1708-1683A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78007419 | |||||||
| chrX:78007427 | A | G | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1708-1675A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78007427 | |||||||
| chrX:78007805 | T | C | 1 | a0002c0002t0002g0223 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1708-1297T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78007805 | |||||||
| chrX:78008534 | A | C | 1 | a0001c0001t0007g0005 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1708-568A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78008534 | |||||||
| chrX:78008555 | G | A | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1708-547G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78008555 | |||||||
| chrX:78008838 | C | A | 2 | a0001c0001t0005g0003 a0001c0001t0005g0004 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.1708-264C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | chrX | 78008838 | |||||||
| chrX:78009017 | C | CA | 14 | a0001c0001t0001g0150 a0001c0001t0001g0197 a0001c0001t0004g0151 others(11): Show |
14 | HG00597.hp2 HG01496.hp2 HG02071.hp1 others(11): Show |
intron_variant | MODIFIER | c.1708-67dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chrX | 78009017 | ||||||
| chrX:78009661 | T | C | 1 | a0005c0006t0008g0118 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1869+398T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78009661 | |||||||
| chrX:78009778 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.1869+515C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78009778 | |||||||
| chrX:78009779 | G | A | 2 | a0001c0001t0001g0155 a0001c0008t0001g0176 |
2 | HG03688.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.1869+516G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78009779 | |||||||
| chrX:78010083 | A | C | 79 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0038 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.1869+820A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010083 | |||||||
| chrX:78010342 | A | G | 5 | a0001c0001t0005g0011 a0001c0001t0005g0124 a0001c0001t0005g0142 others(2): Show |
5 | HG00558.hp2 HG02015.hp1 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.1870-834A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010342 | |||||||
| chrX:78010570 | C | CT | 114 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0037 others(111): Show |
114 | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(111): Show |
intron_variant | MODIFIER | c.1870-580dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chrX | 78010570 | ||||||
| chrX:78010570 | C | CTT | 40 | a0001c0001t0001g0030 a0001c0001t0001g0095 a0001c0001t0001g0154 others(37): Show |
40 | HG00280.hp1 HG00673.hp1 HG01106.hp1 others(37): Show |
intron_variant | MODIFIER | c.1870-581_1870-580d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chrX | 78010570 | ||||||
| chrX:78010597 | G | T | 1 | a0002c0002t0011g0073 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1870-579G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010597 | |||||||
| chrX:78010636 | G | A | 6 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(3): Show |
6 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.1870-540G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010636 | |||||||
| chrX:78010638 | G | A | 6 | a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 others(3): Show |
6 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.1870-538G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010638 | |||||||
| chrX:78010710 | G | C | 1 | a0001c0001t0001g0029 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1870-466G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010710 | |||||||
| chrX:78010781 | G | A | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1870-395G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010781 | |||||||
| chrX:78010784 | T | G | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1870-392T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010784 | |||||||
| chrX:78010791 | T | G | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1870-385T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010791 | |||||||
| chrX:78010792 | A | G | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1870-384A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010792 | |||||||
| chrX:78010796 | C | G | 1 | a0001c0001t0005g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1870-380C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010796 | |||||||
| chrX:78010812 | T | C | 4 | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 others(1): Show |
4 | HG00140.hp1 HG01069.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.1870-364T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010812 | |||||||
| chrX:78010814 | T | C | 4 | a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 others(1): Show |
4 | HG00140.hp1 HG01069.hp1 HG01081.hp1 others(1): Show |
intron_variant | MODIFIER | c.1870-362T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78010814 | |||||||
| chrX:78011033 | A | G | 1 | a0009c0010t0001g0087 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1870-143A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 7/22 | chrX | 78011033 | |||||||
| chrX:78011384 | G | A | 1 | a0001c0001t0005g0224 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1947-65G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 8/22 | chrX | 78011384 | |||||||
| chrX:78011713 | A | C | 1 | a0002c0002t0003g0069 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.2172+39A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/22 | chrX | 78011713 | |||||||
| chrX:78012499 | A | G | 134 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0005g0003 others(131): Show |
135 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(132): Show |
intron_variant | MODIFIER | c.2173-380A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/22 | chrX | 78012499 | |||||||
| chrX:78012590 | TA | T | 86 | a0001c0001t0001g0089 a0001c0001t0001g0158 a0001c0001t0001g0186 others(83): Show |
87 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(84): Show |
intron_variant | MODIFIER | c.2173-269delA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chrX | 78012590 | ||||||
| chrX:78013892 | CTAAGT | C | 82 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0014g0014 others(79): Show |
83 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
intron_variant | MODIFIER | c.2407-766_2407-762d others(7): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chrX | 78013892 | ||||||
| chrX:78014154 | T | A | 4 | a0001c0001t0001g0023 a0001c0001t0001g0156 a0001c0001t0001g0204 others(1): Show |
4 | NA18951.hp2 NA18961.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.2407-508T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | chrX | 78014154 | |||||||
| chrX:78014298 | G | A | 1 | a0001c0001t0001g0184 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2407-364G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | chrX | 78014298 | |||||||
| chrX:78014451 | C | T | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2407-211C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | chrX | 78014451 | |||||||
| chrX:78014478 | G | T | 79 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0014g0014 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.2407-184G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 10/22 | chrX | 78014478 | |||||||
| chrX:78014874 | A | G | 1 | a0001c0001t0001g0007 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2498+121A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 11/22 | chrX | 78014874 | |||||||
| chrX:78014966 | G | A | 4 | a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0227 others(1): Show |
4 | HG02165.hp2 NA18965.hp1 NA19001.hp2 others(1): Show |
intron_variant | MODIFIER | c.2498+213G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 11/22 | chrX | 78014966 | |||||||
| chrX:78015593 | A | G | 3 | a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 |
3 | NA18965.hp1 NA19001.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.2499-161A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 11/22 | chrX | 78015593 | |||||||
| chrX:78016735 | C | T | 1 | a0002c0002t0003g0222 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2626+854C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78016735 | |||||||
| chrX:78017338 | A | C | 1 | a0002c0002t0002g0047 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2626+1457A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78017338 | |||||||
| chrX:78017497 | T | C | 1 | a0002c0002t0003g0068 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2626+1616T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78017497 | |||||||
| chrX:78017746 | T | G | 1 | a0002c0002t0002g0064 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.2626+1865T>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78017746 | |||||||
| chrX:78017765 | C | CT | 33 | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0099 others(30): Show |
33 | HG00544.hp1 HG01106.hp1 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.2626+1913dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | 78017765 | ||||||
| chrX:78017765 | C | CTT | 6 | a0001c0001t0004g0194 a0001c0001t0005g0003 a0001c0001t0005g0004 others(3): Show |
6 | HG02572.hp1 HG02647.hp1 NA18949.hp2 others(3): Show |
intron_variant | MODIFIER | c.2626+1912_2626+191 others(6): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | 78017765 | ||||||
| chrX:78017765 | CT | C | 66 | a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0167 others(63): Show |
67 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(64): Show |
intron_variant | MODIFIER | c.2626+1913delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | 78017765 | ||||||
| chrX:78017765 | CTTTTTTT others(3): Show |
C | 4 | a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 others(1): Show |
4 | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.2626+1904_2626+191 others(14): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | 78017765 | ||||||
| chrX:78017765 | CTTTTTTT others(9): Show |
C | 3 | a0001c0001t0005g0126 a0001c0001t0014g0014 a0008c0012t0005g0125 |
3 | HG02717.hp1 HG03225.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2626+1898_2626+191 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | 78017765 | ||||||
| chrX:78017768 | T | A | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2626+1887T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78017768 | |||||||
| chrX:78018008 | C | A | 1 | a0002c0002t0002g0052 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2626+2127C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78018008 | |||||||
| chrX:78018071 | C | T | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2627-2173C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78018071 | |||||||
| chrX:78018391 | C | A | 1 | a0001c0001t0001g0183 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2627-1853C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78018391 | |||||||
| chrX:78018453 | G | A | 2 | a0001c0001t0007g0018 a0001c0001t0007g0019 |
2 | HG01243.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2627-1791G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78018453 | |||||||
| chrX:78018886 | C | T | 1 | a0001c0001t0001g0164 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.2627-1358C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78018886 | |||||||
| chrX:78018891 | AG | A | 82 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0014g0014 others(79): Show |
83 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
intron_variant | MODIFIER | c.2627-1349delG | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chrX | 78018891 | ||||||
| chrX:78019085 | G | A | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2627-1159G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78019085 | |||||||
| chrX:78019256 | C | T | 1 | a0002c0002t0006g0105 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2627-988C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78019256 | |||||||
| chrX:78019362 | C | A | 82 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0014g0014 others(79): Show |
83 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(80): Show |
intron_variant | MODIFIER | c.2627-882C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78019362 | |||||||
| chrX:78019826 | G | A | 1 | a0002c0002t0002g0033 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.2627-418G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78019826 | |||||||
| chrX:78020168 | A | C | 1 | a0002c0002t0006g0105 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2627-76A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 12/22 | chrX | 78020168 | |||||||
| chrX:78020539 | G | A | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2781+141G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 13/22 | chrX | 78020539 | |||||||
| chrX:78020693 | T | A | 1 | a0001c0001t0014g0014 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2782-252T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 13/22 | chrX | 78020693 | |||||||
| chrX:78020916 | C | A | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2782-29C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 13/22 | chrX | 78020916 | |||||||
| chrX:78020919 | A | C | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2782-26A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 13/22 | chrX | 78020919 | |||||||
| chrX:78021100 | C | T | 1 | a0002c0002t0006g0110 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2916+21C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78021100 | |||||||
| chrX:78021771 | A | G | 1 | a0001c0001t0001g0154 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.2916+692A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78021771 | |||||||
| chrX:78021838 | G | C | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2916+759G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78021838 | |||||||
| chrX:78021867 | G | A | 1 | a0001c0001t0007g0022 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.2916+788G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78021867 | |||||||
| chrX:78022288 | A | G | 3 | a0001c0001t0007g0022 a0001c0001t0014g0014 a0001c0001t0020g0012 |
3 | HG02970.hp1 HG03225.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.2916+1209A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78022288 | |||||||
| chrX:78022487 | A | ATGTT | 4 | a0001c0001t0003g0017 a0001c0001t0005g0137 a0002c0002t0002g0046 others(1): Show |
4 | HG00735.hp1 HG01109.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.2916+1426_2916+142 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022487 | ||||||
| chrX:78022487 | A | ATGTTTGT others(1): Show |
4 | a0001c0001t0003g0016 a0002c0002t0002g0038 a0002c0002t0006g0106 others(1): Show |
4 | HG00544.hp2 HG00609.hp1 NA19063.hp1 others(1): Show |
intron_variant | MODIFIER | c.2916+1422_2916+142 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022487 | ||||||
| chrX:78022501 | G | GTTTA | 12 | a0002c0002t0003g0032 a0002c0002t0003g0077 a0002c0002t0003g0078 others(9): Show |
12 | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(9): Show |
intron_variant | MODIFIER | c.2916+1425_2916+142 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022501 | ||||||
| chrX:78022505 | G | A | 15 | a0001c0001t0004g0172 a0001c0001t0005g0224 a0002c0002t0003g0032 others(12): Show |
15 | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.2916+1426G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78022505 | |||||||
| chrX:78022505 | G | GTTTA | 142 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(139): Show |
142 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(139): Show |
intron_variant | MODIFIER | c.2916+1453_2916+145 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022505 | ||||||
| chrX:78022505 | G | GTTTATTT others(1): Show |
3 | a0001c0001t0001g0095 a0001c0001t0001g0175 a0001c0008t0001g0176 |
3 | HG00673.hp1 HG03688.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.2916+1449_2916+145 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022505 | ||||||
| chrX:78022505 | G | GTTTGTTT others(1): Show |
50 | a0001c0001t0001g0219 a0001c0001t0007g0018 a0002c0002t0002g0033 others(47): Show |
51 | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.2916+1429_2916+143 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022505 | ||||||
| chrX:78022505 | G | GTTTGTTT others(5): Show |
7 | a0002c0002t0002g0060 a0002c0002t0002g0075 a0002c0002t0003g0025 others(4): Show |
7 | HG01074.hp1 HG01255.hp1 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.2916+1429_2916+143 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022505 | ||||||
| chrX:78022563 | G | A | 2 | a0001c0001t0004g0152 a0001c0001t0004g0220 |
2 | NA18955.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.2916+1484G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78022563 | |||||||
| chrX:78022582 | A | G | 2 | a0005c0006t0008g0118 a0005c0006t0008g0119 |
2 | HG02280.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2916+1503A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78022582 | |||||||
| chrX:78022635 | A | AGCCTCCT others(8): Show |
1 | a0001c0001t0007g0171 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.2916+1558_2916+157 others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78022635 | ||||||
| chrX:78022649 | C | T | 1 | a0001c0001t0001g0149 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.2916+1570C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78022649 | |||||||
| chrX:78022679 | G | A | 5 | a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 others(2): Show |
5 | HG02559.hp2 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.2916+1600G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78022679 | |||||||
| chrX:78023203 | G | C | 1 | a0001c0001t0005g0135 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2916+2124G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78023203 | |||||||
| chrX:78023474 | AT | A | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2916+2402delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78023474 | ||||||
| chrX:78024181 | T | C | 9 | a0001c0001t0001g0167 a0001c0001t0001g0195 a0001c0001t0004g0144 others(6): Show |
9 | HG02071.hp1 NA18949.hp1 NA18970.hp1 others(6): Show |
intron_variant | MODIFIER | c.2916+3102T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78024181 | |||||||
| chrX:78024400 | G | GGTTA | 6 | a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0122 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.2916+3323_2916+332 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78024400 | ||||||
| chrX:78024590 | G | A | 1 | a0001c0001t0001g0184 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2916+3511G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78024590 | |||||||
| chrX:78025082 | C | T | 1 | a0001c0001t0004g0210 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.2916+4003C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78025082 | |||||||
| chrX:78025147 | G | A | 1 | a0001c0001t0004g0196 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.2916+4068G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78025147 | |||||||
| chrX:78025193 | A | G | 2 | a0001c0001t0004g0165 a0001c0001t0004g0200 |
2 | NA18947.hp1 NA18977.hp1 |
intron_variant | MODIFIER | c.2917-4057A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78025193 | |||||||
| chrX:78025532 | A | T | 1 | a0001c0001t0007g0171 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.2917-3718A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78025532 | |||||||
| chrX:78025606 | G | A | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2917-3644G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78025606 | |||||||
| chrX:78025871 | C | T | 2 | a0001c0001t0005g0127 a0001c0001t0005g0129 |
2 | HG02615.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.2917-3379C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78025871 | |||||||
| chrX:78026089 | A | G | 1 | a0001c0001t0005g0011 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.2917-3161A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78026089 | |||||||
| chrX:78026889 | C | T | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2917-2361C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78026889 | |||||||
| chrX:78027048 | A | G | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.2917-2202A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78027048 | |||||||
| chrX:78027150 | C | CA | 6 | a0001c0001t0001g0117 a0001c0001t0004g0165 a0001c0001t0005g0128 others(3): Show |
6 | HG01243.hp1 HG03453.hp1 HG04115.hp1 others(3): Show |
intron_variant | MODIFIER | c.2917-2084dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78027150 | ||||||
| chrX:78027152 | AAAAAAAA others(10): Show |
A | 1 | a0001c0001t0007g0171 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.2917-2097_2917-208 others(21): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78027152 | |||||||
| chrX:78027992 | G | A | 13 | a0002c0002t0003g0032 a0002c0002t0003g0077 a0002c0002t0003g0078 others(10): Show |
13 | HG00735.hp2 HG00738.hp1 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.2917-1258G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78027992 | |||||||
| chrX:78027993 | G | GTATT | 5 | a0001c0001t0001g0030 a0001c0001t0008g0123 a0002c0002t0003g0116 others(2): Show |
5 | HG02451.hp1 HG02559.hp1 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.2917-1215_2917-121 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78027993 | ||||||
| chrX:78027993 | GTATT | G | 49 | a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0001g0195 others(46): Show |
49 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(46): Show |
intron_variant | MODIFIER | c.2917-1215_2917-121 others(8): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78027993 | ||||||
| chrX:78027993 | GTATTTAT others(1): Show |
G | 2 | a0001c0001t0004g0212 a0002c0002t0002g0038 |
2 | HG00609.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2917-1219_2917-121 others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78027993 | ||||||
| chrX:78027993 | GTATTTAT others(5): Show |
G | 1 | a0001c0001t0001g0049 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2917-1223_2917-121 others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78027993 | ||||||
| chrX:78027993 | GTATTTAT others(9): Show |
G | 1 | a0011c0014t0004g0192 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2917-1227_2917-121 others(20): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chrX | 78027993 | ||||||
| chrX:78028511 | A | T | 1 | a0001c0001t0001g0184 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2917-739A>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78028511 | |||||||
| chrX:78028537 | C | A | 1 | a0001c0001t0001g0180 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2917-713C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 14/22 | chrX | 78028537 | |||||||
| chrX:78029649 | T | A | 2 | a0001c0001t0007g0018 a0001c0001t0007g0019 |
2 | HG01243.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.3111+205T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 15/22 | chrX | 78029649 | |||||||
| chrX:78029710 | G | A | 2 | a0001c0001t0003g0016 a0001c0001t0003g0017 |
2 | HG03041.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.3111+266G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 15/22 | chrX | 78029710 | |||||||
| chrX:78030154 | A | G | 2 | a0001c0001t0005g0137 a0007c0007t0005g0138 |
2 | HG01109.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.3111+710A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 15/22 | chrX | 78030154 | |||||||
| chrX:78030163 | C | T | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3111+719C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 15/22 | chrX | 78030163 | |||||||
| chrX:78030421 | C | CA | 5 | a0001c0001t0001g0150 a0001c0001t0001g0161 a0001c0001t0001g0170 others(2): Show |
5 | HG00733.hp1 HG01517.hp1 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.3112-964dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chrX | 78030421 | ||||||
| chrX:78030694 | C | CT | 12 | a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137 others(9): Show |
12 | HG01109.hp1 HG01243.hp1 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.3112-691dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chrX | 78030694 | ||||||
| chrX:78032187 | C | G | 2 | a0002c0002t0003g0010 a0002c0002t0003g0031 |
2 | HG02486.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.3294+605C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/22 | chrX | 78032187 | |||||||
| chrX:78032489 | C | T | 3 | a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0007g0081 |
3 | HG01884.hp1 HG02451.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3294+907C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/22 | chrX | 78032489 | |||||||
| chrX:78032596 | A | G | 1 | a0001c0001t0004g0194 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3295-1009A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/22 | chrX | 78032596 | |||||||
| chrX:78032676 | A | G | 1 | a0001c0001t0001g0049 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.3295-929A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/22 | chrX | 78032676 | |||||||
| chrX:78033217 | A | G | 5 | a0003c0004t0009g0130 a0003c0004t0009g0131 a0003c0004t0009g0132 others(2): Show |
5 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show |
intron_variant | MODIFIER | c.3295-388A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/22 | chrX | 78033217 | |||||||
| chrX:78033296 | C | T | 1 | a0001c0001t0001g0203 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.3295-309C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 16/22 | chrX | 78033296 | |||||||
| chrX:78034681 | C | A | 1 | a0002c0002t0002g0053 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.3511+860C>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78034681 | |||||||
| chrX:78034807 | A | G | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.3511+986A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78034807 | |||||||
| chrX:78035095 | C | T | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.3511+1274C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78035095 | |||||||
| chrX:78035233 | T | C | 134 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0005g0003 others(131): Show |
135 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(132): Show |
intron_variant | MODIFIER | c.3511+1412T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78035233 | |||||||
| chrX:78035376 | A | G | 1 | a0001c0001t0001g0030 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.3511+1555A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78035376 | |||||||
| chrX:78035582 | G | A | 1 | a0001c0001t0004g0196 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.3511+1761G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78035582 | |||||||
| chrX:78035874 | A | G | 1 | a0001c0001t0001g0088 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.3511+2053A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78035874 | |||||||
| chrX:78036230 | G | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2409G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036230 | |||||||
| chrX:78036231 | G | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2410G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036231 | |||||||
| chrX:78036232 | G | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2411G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036232 | |||||||
| chrX:78036235 | A | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2414A>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036235 | |||||||
| chrX:78036236 | G | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2415G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036236 | |||||||
| chrX:78036237 | G | C | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2416G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036237 | |||||||
| chrX:78036238 | G | A | 1 | a0002c0002t0003g0221 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3511+2417G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036238 | |||||||
| chrX:78036651 | C | T | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3512-2185C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036651 | |||||||
| chrX:78036774 | G | A | 2 | a0001c0001t0005g0127 a0001c0001t0005g0129 |
2 | HG02615.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.3512-2062G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78036774 | |||||||
| chrX:78037538 | G | C | 2 | a0001c0001t0007g0022 a0001c0001t0008g0121 |
2 | HG02258.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.3512-1298G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78037538 | |||||||
| chrX:78037980 | G | GT | 45 | a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0001g0091 others(42): Show |
45 | HG00280.hp1 HG00558.hp2 HG01106.hp1 others(42): Show |
intron_variant | MODIFIER | c.3512-830dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTT | 18 | a0001c0001t0001g0117 a0001c0001t0001g0158 a0001c0001t0001g0174 others(15): Show |
18 | HG01167.hp1 HG01169.hp2 HG01884.hp2 others(15): Show |
intron_variant | MODIFIER | c.3512-831_3512-830d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(3): Show |
4 | a0002c0002t0002g0057 a0002c0002t0002g0067 a0002c0002t0018g0103 others(1): Show |
4 | HG02165.hp1 NA18969.hp2 NA18974.hp1 others(1): Show |
intron_variant | MODIFIER | c.3512-839_3512-830d others(12): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(4): Show |
26 | a0002c0002t0002g0038 a0002c0002t0002g0052 a0002c0002t0002g0053 others(23): Show |
27 | HG00438.hp1 HG00609.hp1 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.3512-840_3512-830d others(13): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(5): Show |
23 | a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0046 others(20): Show |
23 | HG00597.hp1 HG00621.hp1 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.3512-841_3512-830d others(14): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(6): Show |
18 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0050 others(15): Show |
18 | HG00544.hp2 HG00735.hp2 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.3512-842_3512-830d others(15): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(7): Show |
4 | a0002c0002t0002g0043 a0002c0002t0002g0223 a0002c0002t0003g0042 others(1): Show |
4 | HG00438.hp2 HG00733.hp2 HG01081.hp2 others(1): Show |
intron_variant | MODIFIER | c.3512-843_3512-830d others(16): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(8): Show |
2 | a0002c0002t0002g0040 a0002c0002t0002g0041 |
2 | NA18952.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.3512-844_3512-830d others(17): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | G | GTTTTTTT others(10): Show |
1 | a0002c0002t0003g0068 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.3512-846_3512-830d others(19): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78037980 | GT | G | 10 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0086 others(7): Show |
10 | HG01169.hp1 HG01256.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.3512-830delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chrX | 78037980 | ||||||
| chrX:78038753 | G | C | 1 | a0001c0001t0021g0020 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3512-83G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 17/22 | chrX | 78038753 | |||||||
| chrX:78039057 | C | T | 1 | a0002c0002t0003g0042 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.3658+75C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78039057 | |||||||
| chrX:78039117 | CAT | C | 13 | a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0008 others(10): Show |
13 | HG01243.hp1 HG02258.hp1 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.3658+136_3658+137d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78039117 | |||||||
| chrX:78039477 | C | T | 1 | a0001c0001t0001g0195 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.3658+495C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78039477 | |||||||
| chrX:78039586 | G | A | 1 | a0001c0001t0020g0012 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.3658+604G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78039586 | |||||||
| chrX:78039640 | G | C | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3658+658G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78039640 | |||||||
| chrX:78039989 | T | C | 1 | a0001c0001t0004g0210 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.3659-602T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78039989 | |||||||
| chrX:78040199 | GC | G | 43 | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0117 others(40): Show |
43 | HG00280.hp1 HG01109.hp1 HG01167.hp1 others(40): Show |
intron_variant | MODIFIER | c.3659-381delC | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chrX | 78040199 | ||||||
| chrX:78040199 | GCC | G | 79 | a0001c0001t0003g0017 a0001c0001t0005g0218 a0001c0001t0007g0022 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.3659-382_3659-381d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chrX | 78040199 | ||||||
| chrX:78040209 | C | G | 3 | a0002c0002t0003g0025 a0002c0002t0003g0027 a0002c0002t0003g0028 |
3 | HG01074.hp1 HG01515.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.3659-382C>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78040209 | |||||||
| chrX:78040334 | G | C | 6 | a0001c0001t0008g0120 a0001c0001t0008g0121 a0001c0001t0008g0122 others(3): Show |
6 | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.3659-257G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 18/22 | chrX | 78040334 | |||||||
| chrX:78040902 | G | A | 1 | a0001c0001t0004g0185 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.3801+169G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78040902 | |||||||
| chrX:78040953 | G | A | 1 | a0002c0002t0006g0105 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3801+220G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78040953 | |||||||
| chrX:78041291 | T | C | 4 | a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 others(1): Show |
4 | HG01074.hp1 HG01433.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.3801+558T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78041291 | |||||||
| chrX:78041436 | C | T | 3 | a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0064 |
3 | NA18943.hp1 NA18969.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.3801+703C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78041436 | |||||||
| chrX:78041546 | A | G | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.3801+813A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78041546 | |||||||
| chrX:78041786 | G | A | 1 | a0004c0003t0002g0039 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.3802-799G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78041786 | |||||||
| chrX:78041888 | T | C | 134 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0005g0003 others(131): Show |
135 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(132): Show |
intron_variant | MODIFIER | c.3802-697T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78041888 | |||||||
| chrX:78041908 | G | A | 2 | a0001c0001t0007g0018 a0001c0001t0007g0019 |
2 | HG01243.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.3802-677G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | chrX | 78041908 | |||||||
| chrX:78042116 | C | CA | 6 | a0001c0001t0001g0030 a0001c0001t0004g0194 a0001c0001t0004g0200 others(3): Show |
6 | HG00597.hp2 HG01069.hp1 HG02683.hp2 others(3): Show |
intron_variant | MODIFIER | c.3802-449dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | 78042116 | ||||||
| chrX:78042116 | C | CAA | 8 | a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0042 others(5): Show |
9 | HG00733.hp2 HG01255.hp1 HG01496.hp2 others(6): Show |
intron_variant | MODIFIER | c.3802-450_3802-449d others(4): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | 78042116 | ||||||
| chrX:78042116 | C | CAAA | 71 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(68): Show |
71 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(68): Show |
intron_variant | MODIFIER | c.3802-451_3802-449d others(5): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | 78042116 | ||||||
| chrX:78042116 | CA | C | 34 | a0001c0001t0001g0037 a0001c0001t0001g0190 a0001c0001t0001g0203 others(31): Show |
34 | HG00558.hp2 HG01109.hp1 HG01167.hp1 others(31): Show |
intron_variant | MODIFIER | c.3802-449delA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chrX | 78042116 | ||||||
| chrX:78043156 | C | T | 1 | a0002c0002t0002g0054 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.4006-161C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 20/22 | chrX | 78043156 | |||||||
| chrX:78043657 | C | CT | 6 | a0001c0001t0005g0148 a0001c0005t0001g0157 a0001c0005t0001g0159 others(3): Show |
6 | HG02970.hp2 HG03098.hp1 HG03239.hp2 others(3): Show |
intron_variant | MODIFIER | c.4123+241dupT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | 78043657 | ||||||
| chrX:78043657 | CT | C | 13 | a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0149 others(10): Show |
13 | HG01517.hp2 HG01943.hp1 HG02735.hp1 others(10): Show |
intron_variant | MODIFIER | c.4123+241delT | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | 78043657 | ||||||
| chrX:78043722 | A | G | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.4123+288A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78043722 | |||||||
| chrX:78044211 | G | A | 1 | a0010c0013t0007g0232 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4123+777G>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78044211 | |||||||
| chrX:78044255 | C | CA | 134 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0029 others(131): Show |
134 | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(131): Show |
intron_variant | MODIFIER | c.4123+841dupA | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | 78044255 | ||||||
| chrX:78044255 | C | CAAA | 79 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(76): Show |
80 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(77): Show |
intron_variant | MODIFIER | c.4123+839_4123+841d others(5): Show |
ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chrX | 78044255 | ||||||
| chrX:78044276 | T | A | 8 | a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137 others(5): Show |
8 | HG01109.hp1 HG02280.hp2 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.4123+842T>A | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78044276 | |||||||
| chrX:78044520 | C | T | 3 | a0001c0001t0001g0149 a0001c0001t0001g0178 a0001c0001t0001g0203 |
3 | HG02083.hp1 NA19056.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.4124-950C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78044520 | |||||||
| chrX:78044632 | G | C | 1 | a0002c0002t0003g0078 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.4124-838G>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78044632 | |||||||
| chrX:78044917 | G | T | 81 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0002c0002t0002g0033 others(78): Show |
82 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(79): Show |
intron_variant | MODIFIER | c.4124-553G>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78044917 | |||||||
| chrX:78045070 | C | T | 1 | a0002c0002t0002g0052 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4124-400C>T | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78045070 | |||||||
| chrX:78045317 | A | G | 1 | a0001c0001t0001g0150 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.4124-153A>G | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 21/22 | chrX | 78045317 | |||||||
| chrX:78045583 | T | C | 1 | a0002c0002t0003g0024 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.4226+11T>C | ATP7A | ENSG00000165240.22 | transcript | ENST00000341514.11 | protein_coding | 22/22 | chrX | 78045583 |