Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 56474 |
| ensemblid | ENSG00000047230.15 |
| hgncid | 2520 |
| symbol | CTPS2 |
| name | CTP synthase 2 |
| refseq_nuc | NM_175859.3 |
| refseq_prot | NP_787055.1 |
| ensembl_nuc | ENST00000359276.9 |
| ensembl_prot | ENSP00000352222.4 |
| mane_status | MANE Select |
| chr | chrX |
| start | 16587999 |
| end | 16712669 |
| strand | - |
| ver | v1.2 |
| region | chrX:16587999-16712669 |
| region5000 | chrX:16582999-16717669 |
| regionname0 | CTPS2_chrX_16587999_16712669 |
| regionname5000 | CTPS2_chrX_16582999_16717669 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1758 | 198 | 52 | 41 | 79 | 7 | 17 | CTPS2_chrX_16582999_16717669 | CTPS2 | ATGAA others(1753): Show |
chrX | 16582999 | 16717669 | ||
| a0001c0002 | 0/0 | 1758 | 27 | 8 | 4 | 12 | 0 | 3 | CTPS2_chrX_16582999_16717669 | CTPS2 | ATGAA others(1753): Show |
chrX | 16582999 | 16717669 | ||
| a0001c0003 | 0/0 | 1758 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | ATGAA others(1753): Show |
chrX | 16582999 | 16717669 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 3953 | 125 | 7 | 27 | 69 | 6 | 15 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3948): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0002 | 0/0 | 3955 | 43 | 27 | 8 | 6 | 1 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0003 | 0/0 | 3955 | 9 | 6 | 3 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0004 | 0/0 | 3953 | 6 | 6 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3948): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0005 | 0/0 | 3955 | 4 | 1 | 3 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0006 | 0/0 | 3953 | 2 | 0 | 0 | 2 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3948): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0007 | 0/0 | 3955 | 2 | 2 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0008 | 0/0 | 3955 | 2 | 2 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0009 | 0/0 | 3953 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3948): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0010 | 0/0 | 3953 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3948): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0011 | 0/1 | 3954 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3949): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0013 | 0/0 | 3953 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3948): Show |
chrX | 16582999 | 16717669 |
| a0001c0001t0014 | 0/0 | 3955 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0002t0002 | 0/0 | 3955 | 26 | 7 | 4 | 12 | 0 | 3 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0002t0012 | 0/0 | 3955 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| a0001c0003t0002 | 0/0 | 3955 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | AGTGC others(3950): Show |
chrX | 16582999 | 16717669 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0055 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0003g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0004g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0005g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0006g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0006g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0007g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0007g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0008g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0008g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0009g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0010g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0011g0077 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0013g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0001t0014g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0200 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0002t0012g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| a0001c0003t0002g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0170 | EUR | GBR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0015 | EUR | FIN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00438 | hp2 | a0001 | c0002 | t0002 | g0151 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00609 | hp1 | a0001 | c0001 | t0002 | g0050 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0126 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | CHS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00733 | hp2 | a0001 | c0001 | t0003 | g0202 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0090 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0219 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0066 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01069 | hp1 | a0001 | c0001 | t0003 | g0166 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01070 | hp1 | a0001 | c0001 | t0003 | g0036 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01070 | hp2 | a0001 | c0001 | t0002 | g0009 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01074 | hp1 | a0001 | c0001 | t0005 | g0044 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0083 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01106 | hp1 | a0001 | c0003 | t0002 | g0138 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01109 | hp1 | a0001 | c0002 | t0002 | g0016 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0169 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01243 | hp1 | a0001 | c0001 | t0001 | g0205 | AMR | PUR | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0101 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01256 | hp1 | a0001 | c0001 | t0002 | g0057 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01258 | hp1 | a0001 | c0001 | t0005 | g0059 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0086 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01346 | hp1 | a0001 | c0001 | t0005 | g0041 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0100 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0025 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0084 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01361 | hp2 | a0001 | c0001 | t0001 | g0107 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01433 | hp1 | a0001 | c0001 | t0001 | g0099 | AMR | CLM | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0049 | EUR | IBS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0203 | EUR | IBS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0061 | EUR | IBS | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0181 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0157 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0030 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0190 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01975 | hp2 | a0001 | c0002 | t0002 | g0216 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01978 | hp1 | a0001 | c0002 | t0002 | g0076 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0184 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0118 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0045 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02040 | hp1 | a0001 | c0001 | t0006 | g0119 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0197 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02074 | hp1 | a0001 | c0001 | t0002 | g0222 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0174 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0085 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0008 | EAS | CDX | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0168 | EAS | CDX | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0091 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0137 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02280 | hp2 | a0001 | c0001 | t0003 | g0218 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0023 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02293 | hp2 | a0001 | c0002 | t0002 | g0215 | AMR | PEL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02451 | hp1 | a0001 | c0002 | t0002 | g0191 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02451 | hp2 | a0001 | c0002 | t0012 | g0051 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02523 | hp2 | a0001 | c0002 | t0002 | g0064 | EAS | KHV | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0194 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0192 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02615 | hp1 | a0001 | c0002 | t0002 | g0217 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0075 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02630 | hp1 | a0001 | c0001 | t0002 | g0072 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02630 | hp2 | a0001 | c0002 | t0002 | g0220 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02647 | hp1 | a0001 | c0001 | t0002 | g0035 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0223 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0046 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02698 | hp1 | a0001 | c0001 | t0002 | g0018 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02717 | hp1 | a0001 | c0001 | t0004 | g0019 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02723 | hp1 | a0001 | c0001 | t0002 | g0195 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0165 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0052 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02738 | hp1 | a0001 | c0001 | t0013 | g0225 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02809 | hp1 | a0001 | c0001 | t0003 | g0178 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02809 | hp2 | a0001 | c0001 | t0004 | g0021 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0162 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0128 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02886 | hp2 | a0001 | c0001 | t0002 | g0005 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0142 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02897 | hp1 | a0001 | c0001 | t0004 | g0032 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02897 | hp2 | a0001 | c0001 | t0003 | g0143 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0012 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0183 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02976 | hp1 | a0001 | c0001 | t0004 | g0020 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0013 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0058 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0196 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0163 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03098 | hp1 | a0001 | c0001 | t0008 | g0180 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03130 | hp1 | a0001 | c0001 | t0007 | g0167 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03139 | hp1 | a0001 | c0001 | t0004 | g0027 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0038 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0034 | AFR | ESN | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0074 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0221 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03453 | hp1 | a0001 | c0001 | t0014 | g0226 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03453 | hp2 | a0001 | c0001 | t0007 | g0164 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0201 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03486 | hp2 | a0001 | c0001 | t0008 | g0207 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03490 | hp1 | a0001 | c0002 | t0002 | g0102 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0141 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0040 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03540 | hp2 | a0001 | c0001 | t0003 | g0179 | AFR | GWD | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0037 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03654 | hp1 | a0001 | c0002 | t0002 | g0026 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0078 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03704 | hp1 | a0001 | c0001 | t0001 | g0106 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03704 | hp2 | a0001 | c0002 | t0002 | g0224 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0098 | SAS | PJL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0062 | SAS | BEB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0033 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0140 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0097 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0056 | SAS | STU | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18522 | hp1 | a0001 | c0001 | t0004 | g0028 | AFR | YRI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0094 | EAS | CHB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | CHB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18906 | hp1 | a0001 | c0001 | t0002 | g0011 | AFR | YRI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18906 | hp2 | a0001 | c0001 | t0002 | g0071 | AFR | YRI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0067 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18952 | hp1 | a0001 | c0002 | t0002 | g0105 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0080 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0175 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18971 | hp1 | a0001 | c0001 | t0010 | g0113 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18975 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18975 | hp2 | a0001 | c0002 | t0002 | g0079 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0122 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0095 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18989 | hp1 | a0001 | c0001 | t0009 | g0001 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18991 | hp1 | a0001 | c0002 | t0002 | g0087 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19003 | hp2 | a0001 | c0002 | t0002 | g0117 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19006 | hp1 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19030 | hp1 | a0001 | c0002 | t0002 | g0139 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0006 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19043 | hp1 | a0001 | c0001 | t0005 | g0043 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0068 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0070 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0089 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19066 | hp1 | a0001 | c0002 | t0002 | g0002 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19072 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19079 | hp1 | a0001 | c0002 | t0002 | g0108 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19081 | hp1 | a0001 | c0002 | t0002 | g0065 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19081 | hp2 | a0001 | c0001 | t0006 | g0185 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19083 | hp1 | a0001 | c0002 | t0002 | g0136 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19086 | hp1 | a0001 | c0002 | t0002 | g0127 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19089 | hp1 | a0001 | c0002 | t0002 | g0069 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0110 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0042 | EUR | TSI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0053 | EUR | TSI | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0063 | SAS | GIH | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02486 | hp1 | a0001 | c0001 | t0001 | g0081 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0004 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG02559 | hp2 | a0001 | c0002 | t0002 | g0206 | AFR | ACB | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| HG03471 | hp1 | a0001 | c0002 | t0002 | g0073 | AFR | MSL | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0014 | AFR | USA | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0133 | AFR | USA | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA21309 | hp1 | a0001 | c0002 | t0002 | g0200 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0213 | AFR | LWK | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0011 | g0077 | REF | REF | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0055 | REF | REF | CTPS2_chrX_16582999_16717669 | CTPS2 | chrX | 16582999 | 16717669 |
| 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 |
|---|
| 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:16609633 | C | T | 1 | a0001c0002 | 27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
synonymous_variant | LOW | c.1599G>A | p.Pro533Pro | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/19 | 1973/3953 | 1599/1761 | 533/586 | chrX | 16609633 | |||
| chrX:16639229 | G | C | 1 | a0001c0003 | 1 | HG01106.hp1 | synonymous_variant | LOW | c.1311C>G | p.Pro437Pro | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/19 | 1685/3953 | 1311/1761 | 437/586 | chrX | 16639229 |
| 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:16588109 | G | T | 1 | a0001c0002t0012 | 1 | HG02451.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1708C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2684 | chrX | 16588109 | ||||||
| chrX:16588148 | C | T | 9 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show |
89 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(86): Show |
3_prime_UTR_variant | MODIFIER | c.*1669G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2645 | chrX | 16588148 | ||||||
| chrX:16588167 | C | CTT | 9 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show |
89 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(86): Show |
3_prime_UTR_variant | MODIFIER | c.*1648_*1649dupAA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2625 | chrX | 16588167 | ||||||
| chrX:16588314 | T | C | 1 | a0001c0001t0006 | 2 | HG02040.hp1 NA19081.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1503A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2479 | chrX | 16588314 | ||||||
| chrX:16588368 | G | T | 2 | a0001c0001t0003 a0001c0001t0007 |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1449C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2425 | chrX | 16588368 | ||||||
| chrX:16588487 | A | G | 1 | a0001c0001t0007 | 2 | HG03130.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1330T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2306 | chrX | 16588487 | ||||||
| chrX:16588706 | G | A | 2 | a0001c0001t0003 a0001c0001t0007 |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1111C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 2087 | chrX | 16588706 | ||||||
| chrX:16588964 | T | C | 1 | a0001c0001t0008 | 2 | HG03098.hp1 HG03486.hp2 |
3_prime_UTR_variant | MODIFIER | c.*853A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1829 | chrX | 16588964 | ||||||
| chrX:16589265 | C | T | 1 | a0001c0001t0005 | 4 | HG01074.hp1 HG01258.hp1 HG01346.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*552G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1528 | chrX | 16589265 | ||||||
| chrX:16589407 | A | G | 1 | a0001c0001t0010 | 1 | NA18971.hp1 | 3_prime_UTR_variant | MODIFIER | c.*410T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1386 | chrX | 16589407 | ||||||
| chrX:16589560 | G | A | 1 | a0001c0001t0004 | 6 | HG02717.hp1 HG02809.hp2 HG02897.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*257C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 19/19 | 1233 | chrX | 16589560 | ||||||
| chrX:16712386 | C | T | 1 | a0001c0001t0009 | 1 | NA18989.hp1 | 5_prime_UTR_variant | MODIFIER | c.-91G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/19 | 9484 | chrX | 16712386 | ||||||
| chrX:16712561 | G | A | 1 | a0001c0001t0013 | 1 | HG02738.hp1 | 5_prime_UTR_variant | MODIFIER | c.-266C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/19 | 9659 | chrX | 16712561 | ||||||
| chrX:16712660 | T | C | 1 | a0001c0001t0014 | 1 | HG03453.hp1 | 5_prime_UTR_variant | MODIFIER | c.-365A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/19 | 9758 | chrX | 16712660 |
| 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:16590124 | A | G | 1 | a0001c0001t0002g0089 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.*42-349T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590124 | |||||||
| chrX:16590221 | GTTTTA | G | 29 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(26): Show |
29 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.*42-451_*42-447del others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590221 | |||||||
| chrX:16590336 | A | G | 1 | a0001c0001t0001g0140 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.*41+416T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590336 | |||||||
| chrX:16590344 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.*41+408A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590344 | |||||||
| chrX:16590399 | T | C | 1 | a0001c0001t0001g0081 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.*41+353A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590399 | |||||||
| chrX:16590414 | C | A | 1 | a0001c0001t0008g0207 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.*41+338G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590414 | |||||||
| chrX:16590538 | T | C | 3 | a0001c0001t0001g0172 a0001c0001t0006g0119 a0001c0001t0006g0185 |
3 | HG02040.hp1 NA18975.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.*41+214A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590538 | |||||||
| chrX:16590539 | A | AT | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.*41+212dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590539 | |||||||
| chrX:16590541 | T | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.*41+211A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590541 | |||||||
| chrX:16590584 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.*41+168G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590584 | |||||||
| chrX:16590612 | T | C | 2 | a0001c0001t0002g0133 a0001c0002t0012g0051 |
2 | HG02451.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.*41+140A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590612 | |||||||
| chrX:16590728 | C | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.*41+24G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 18/18 | chrX | 16590728 | |||||||
| chrX:16591031 | A | C | 1 | a0001c0001t0002g0011 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1692-169T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591031 | |||||||
| chrX:16591230 | G | A | 5 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG01106.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-368C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591230 | |||||||
| chrX:16591230 | G | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-368C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591230 | |||||||
| chrX:16591295 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-433A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591295 | |||||||
| chrX:16591331 | A | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-469T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591331 | |||||||
| chrX:16591542 | G | A | 1 | a0001c0001t0001g0098 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1692-680C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591542 | |||||||
| chrX:16591834 | C | T | 1 | a0001c0001t0001g0109 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1692-972G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16591834 | |||||||
| chrX:16592076 | CT | C | 14 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1692-1215delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592076 | |||||||
| chrX:16592260 | C | G | 1 | a0001c0001t0001g0161 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.1692-1398G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592260 | |||||||
| chrX:16592399 | T | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-1537A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592399 | |||||||
| chrX:16592514 | C | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-1652G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592514 | |||||||
| chrX:16592665 | T | C | 1 | a0001c0001t0001g0066 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1692-1803A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592665 | |||||||
| chrX:16592673 | C | T | 1 | a0001c0001t0001g0122 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1692-1811G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16592673 | |||||||
| chrX:16593065 | T | C | 1 | a0001c0001t0001g0010 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1692-2203A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593065 | |||||||
| chrX:16593230 | T | C | 6 | a0001c0001t0002g0034 a0001c0001t0002g0072 a0001c0001t0002g0137 others(3): Show |
6 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.1692-2368A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593230 | |||||||
| chrX:16593298 | G | A | 1 | a0001c0001t0001g0052 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1692-2436C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593298 | |||||||
| chrX:16593428 | C | CA | 21 | a0001c0001t0001g0033 a0001c0001t0001g0062 a0001c0001t0001g0066 others(18): Show |
21 | HG00738.hp1 HG01109.hp1 HG01192.hp1 others(18): Show |
intron_variant | MODIFIER | c.1692-2567dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593428 | |||||||
| chrX:16593477 | C | CT | 46 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 others(43): Show |
46 | HG00438.hp2 HG01070.hp2 HG01106.hp1 others(43): Show |
intron_variant | MODIFIER | c.1692-2616dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593477 | |||||||
| chrX:16593477 | C | CTT | 25 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(22): Show |
25 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.1692-2617_1692-261 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593477 | |||||||
| chrX:16593696 | G | C | 1 | a0001c0002t0002g0215 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1692-2834C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593696 | |||||||
| chrX:16593871 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1692-3009C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593871 | |||||||
| chrX:16593982 | T | C | 2 | a0001c0002t0002g0102 a0001c0002t0002g0224 |
2 | HG03490.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1692-3120A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16593982 | |||||||
| chrX:16594029 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-3167A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16594029 | |||||||
| chrX:16594059 | C | T | 1 | a0001c0001t0002g0035 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1692-3197G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16594059 | |||||||
| chrX:16594238 | T | G | 1 | a0001c0001t0001g0158 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1692-3376A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16594238 | |||||||
| chrX:16595162 | T | TAC | 27 | a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 others(24): Show |
27 | HG00438.hp2 HG01106.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1692-4302_1692-430 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | |||||||
| chrX:16595162 | T | TACAC | 36 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(33): Show |
36 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(33): Show |
intron_variant | MODIFIER | c.1692-4304_1692-430 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | |||||||
| chrX:16595162 | T | TACACAC | 2 | a0001c0001t0002g0034 a0001c0001t0002g0084 |
2 | HG01361.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1692-4306_1692-430 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | |||||||
| chrX:16595162 | TAC | T | 12 | a0001c0001t0002g0018 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-4302_1692-430 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | |||||||
| chrX:16595162 | TACACACA others(7): Show |
T | 1 | a0001c0001t0001g0054 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.1692-4314_1692-430 others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595162 | |||||||
| chrX:16595343 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1692-4481C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595343 | |||||||
| chrX:16595362 | A | T | 1 | a0001c0001t0001g0152 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1692-4500T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595362 | |||||||
| chrX:16595481 | T | C | 1 | a0001c0001t0001g0205 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1692-4619A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595481 | |||||||
| chrX:16595558 | G | A | 2 | a0001c0001t0002g0128 a0001c0003t0002g0138 |
2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1692-4696C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595558 | |||||||
| chrX:16595647 | A | G | 1 | a0001c0001t0002g0090 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1692-4785T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595647 | |||||||
| chrX:16595771 | C | T | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-4909G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16595771 | |||||||
| chrX:16596059 | G | A | 2 | a0001c0001t0002g0049 a0001c0001t0002g0219 |
2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.1692-5197C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596059 | |||||||
| chrX:16596170 | C | T | 1 | a0001c0001t0014g0226 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1692-5308G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596170 | |||||||
| chrX:16596178 | GT | G | 5 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG01106.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-5317delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596178 | |||||||
| chrX:16596188 | G | GT | 12 | a0001c0001t0001g0082 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-5327dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596188 | |||||||
| chrX:16596188 | GT | G | 24 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 others(21): Show |
24 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
intron_variant | MODIFIER | c.1692-5327delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596188 | |||||||
| chrX:16596199 | T | A | 5 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG01106.hp1 HG02818.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-5337A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596199 | |||||||
| chrX:16596281 | G | A | 2 | a0001c0001t0001g0140 a0001c0001t0002g0034 |
2 | HG03195.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1692-5419C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596281 | |||||||
| chrX:16596301 | G | A | 19 | a0001c0002t0002g0002 a0001c0002t0002g0026 a0001c0002t0002g0064 others(16): Show |
19 | HG00438.hp2 HG01975.hp2 HG01978.hp1 others(16): Show |
intron_variant | MODIFIER | c.1692-5439C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596301 | |||||||
| chrX:16596382 | C | A | 2 | a0001c0001t0002g0128 a0001c0003t0002g0138 |
2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1692-5520G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596382 | |||||||
| chrX:16596542 | A | G | 37 | a0001c0001t0002g0133 a0001c0001t0003g0036 a0001c0001t0003g0142 others(34): Show |
37 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(34): Show |
intron_variant | MODIFIER | c.1692-5680T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596542 | |||||||
| chrX:16596740 | C | G | 5 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0194 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1692-5878G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596740 | |||||||
| chrX:16596811 | C | T | 8 | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0035 others(5): Show |
8 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1692-5949G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596811 | |||||||
| chrX:16596812 | G | A | 38 | a0001c0001t0002g0034 a0001c0001t0002g0133 a0001c0001t0003g0036 others(35): Show |
38 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.1692-5950C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596812 | |||||||
| chrX:16596903 | A | G | 1 | a0001c0001t0002g0090 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1692-6041T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16596903 | |||||||
| chrX:16597251 | C | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-6389G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597251 | |||||||
| chrX:16597287 | G | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-6425C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597287 | |||||||
| chrX:16597465 | C | G | 39 | a0001c0001t0002g0034 a0001c0001t0002g0133 a0001c0001t0003g0036 others(36): Show |
39 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1692-6603G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597465 | |||||||
| chrX:16597505 | G | T | 1 | a0001c0003t0002g0138 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1692-6643C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597505 | |||||||
| chrX:16597579 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-6717A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597579 | |||||||
| chrX:16597765 | A | C | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-6903T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597765 | |||||||
| chrX:16597909 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-7047G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16597909 | |||||||
| chrX:16598119 | C | T | 1 | a0001c0001t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1692-7257G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598119 | |||||||
| chrX:16598120 | T | G | 1 | a0001c0001t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1692-7258A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598120 | |||||||
| chrX:16598233 | C | T | 1 | a0001c0001t0013g0225 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1692-7371G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598233 | |||||||
| chrX:16598242 | T | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1692-7380A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598242 | |||||||
| chrX:16598351 | C | T | 22 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0040 others(19): Show |
22 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1692-7489G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598351 | |||||||
| chrX:16598385 | G | A | 5 | a0001c0001t0001g0046 a0001c0001t0001g0169 a0001c0001t0001g0170 others(2): Show |
5 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.1692-7523C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598385 | |||||||
| chrX:16598640 | T | C | 12 | a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0152 others(9): Show |
12 | HG01928.hp1 HG01934.hp1 HG01978.hp2 others(9): Show |
intron_variant | MODIFIER | c.1692-7778A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598640 | |||||||
| chrX:16598697 | A | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-7835T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598697 | |||||||
| chrX:16598826 | C | T | 3 | a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0190 |
3 | HG01952.hp1 NA18956.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1692-7964G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598826 | |||||||
| chrX:16598839 | A | G | 1 | a0001c0001t0002g0222 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1692-7977T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598839 | |||||||
| chrX:16598951 | C | A | 5 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0194 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1692-8089G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16598951 | |||||||
| chrX:16599089 | G | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-8227C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599089 | |||||||
| chrX:16599144 | G | A | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-8282C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599144 | |||||||
| chrX:16599171 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1692-8309A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599171 | |||||||
| chrX:16599476 | C | CTTT | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-8617_1692-861 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | |||||||
| chrX:16599476 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1692-8614G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | |||||||
| chrX:16599476 | CT | C | 56 | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0002g0004 others(53): Show |
56 | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(53): Show |
intron_variant | MODIFIER | c.1692-8615delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599476 | |||||||
| chrX:16599634 | G | A | 1 | a0001c0001t0002g0057 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.1692-8772C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599634 | |||||||
| chrX:16599740 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1692-8878G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599740 | |||||||
| chrX:16599775 | A | AC | 14 | a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0124 others(11): Show |
14 | HG00673.hp1 HG02523.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.1692-8914dupG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599775 | |||||||
| chrX:16599775 | AC | A | 64 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(61): Show |
64 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(61): Show |
intron_variant | MODIFIER | c.1692-8914delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599775 | |||||||
| chrX:16599782 | C | A | 1 | a0001c0001t0001g0173 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1692-8920G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599782 | |||||||
| chrX:16599975 | C | T | 1 | a0001c0001t0001g0210 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1692-9113G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16599975 | |||||||
| chrX:16600100 | G | A | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1692-9238C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600100 | |||||||
| chrX:16600375 | A | ATGTTTTA others(35): Show |
1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9165_1691+916 others(46): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600375 | |||||||
| chrX:16600463 | G | C | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9078C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600463 | |||||||
| chrX:16600464 | C | G | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9077G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600464 | |||||||
| chrX:16600483 | T | A | 1 | a0001c0002t0002g0191 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1691+9058A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600483 | |||||||
| chrX:16600522 | T | A | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+9019A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600522 | |||||||
| chrX:16600880 | T | A | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8661A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600880 | |||||||
| chrX:16600917 | C | G | 1 | a0001c0001t0001g0145 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1691+8624G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16600917 | |||||||
| chrX:16601071 | T | G | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8470A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601071 | |||||||
| chrX:16601274 | A | G | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+8267T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601274 | |||||||
| chrX:16601352 | C | T | 1 | a0001c0001t0002g0174 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1691+8189G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601352 | |||||||
| chrX:16601377 | C | T | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1691+8164G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601377 | |||||||
| chrX:16601552 | T | C | 2 | a0001c0001t0001g0068 a0001c0001t0001g0070 |
2 | NA19056.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.1691+7989A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601552 | |||||||
| chrX:16601572 | CG | C | 80 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0022 others(77): Show |
80 | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(77): Show |
intron_variant | MODIFIER | c.1691+7968delC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | |||||||
| chrX:16601572 | CGG | C | 99 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(96): Show |
99 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.1691+7967_1691+796 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | |||||||
| chrX:16601572 | CGGG | C | 31 | a0001c0001t0001g0160 a0001c0001t0002g0004 a0001c0001t0002g0011 others(28): Show |
31 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(28): Show |
intron_variant | MODIFIER | c.1691+7966_1691+796 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601572 | |||||||
| chrX:16601578 | G | A | 1 | a0001c0001t0002g0195 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1691+7963C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601578 | |||||||
| chrX:16601579 | G | C | 2 | a0001c0001t0001g0066 a0001c0001t0001g0106 |
2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1691+7962C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601579 | |||||||
| chrX:16601583 | G | C | 4 | a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0190 others(1): Show |
4 | HG01952.hp1 HG03139.hp1 NA18956.hp1 others(1): Show |
intron_variant | MODIFIER | c.1691+7958C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601583 | |||||||
| chrX:16601585 | G | T | 2 | a0001c0001t0002g0034 a0001c0002t0002g0127 |
2 | HG03195.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.1691+7956C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601585 | |||||||
| chrX:16601608 | G | A | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7933C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601608 | |||||||
| chrX:16601613 | T | G | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7928A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601613 | |||||||
| chrX:16601617 | T | C | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7924A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601617 | |||||||
| chrX:16601618 | C | T | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7923G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601618 | |||||||
| chrX:16601623 | C | T | 1 | a0001c0001t0001g0214 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1691+7918G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601623 | |||||||
| chrX:16601642 | G | A | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7899C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601642 | |||||||
| chrX:16601697 | T | G | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7844A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601697 | |||||||
| chrX:16601739 | CATA | C | 2 | a0001c0001t0001g0107 a0001c0001t0002g0057 |
2 | HG01256.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.1691+7799_1691+780 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601739 | |||||||
| chrX:16601751 | C | T | 1 | a0001c0001t0002g0222 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.1691+7790G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601751 | |||||||
| chrX:16601757 | A | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+7784T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601757 | |||||||
| chrX:16601967 | C | T | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7574G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16601967 | |||||||
| chrX:16602048 | A | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+7493T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602048 | |||||||
| chrX:16602086 | G | C | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7455C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602086 | |||||||
| chrX:16602328 | C | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+7213G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602328 | |||||||
| chrX:16602498 | C | T | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7043G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602498 | |||||||
| chrX:16602499 | T | C | 1 | a0001c0001t0001g0160 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1691+7042A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602499 | |||||||
| chrX:16602532 | T | C | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1691+7009A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602532 | |||||||
| chrX:16602792 | A | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6749T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16602792 | |||||||
| chrX:16603058 | T | C | 3 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 |
3 | HG02559.hp1 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1691+6483A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603058 | |||||||
| chrX:16603139 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6402A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603139 | |||||||
| chrX:16603206 | G | A | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6335C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603206 | |||||||
| chrX:16603286 | G | A | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+6255C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603286 | |||||||
| chrX:16603309 | C | G | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+6232G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603309 | |||||||
| chrX:16603416 | A | AAAAT | 57 | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0031 others(54): Show |
57 | HG00438.hp1 HG00738.hp1 HG01099.hp1 others(54): Show |
intron_variant | MODIFIER | c.1691+6121_1691+612 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | |||||||
| chrX:16603416 | A | AAAATAAA others(1): Show |
67 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0017 others(64): Show |
67 | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(64): Show |
intron_variant | MODIFIER | c.1691+6117_1691+612 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | |||||||
| chrX:16603416 | A | AAAATAAA others(5): Show |
8 | a0001c0001t0001g0015 a0001c0001t0001g0058 a0001c0001t0001g0132 others(5): Show |
8 | HG00280.hp1 HG02135.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.1691+6113_1691+612 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | |||||||
| chrX:16603416 | AAAAT | A | 6 | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(3): Show |
6 | HG02717.hp1 HG02809.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.1691+6121_1691+612 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | |||||||
| chrX:16603416 | AAAATAAA others(5): Show |
A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+6113_1691+612 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | |||||||
| chrX:16603416 | AAAATAAA others(9): Show |
A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+6109_1691+612 others(20): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603416 | |||||||
| chrX:16603430 | A | AATAAATA others(1): Show |
27 | a0001c0002t0002g0002 a0001c0002t0002g0016 a0001c0002t0002g0026 others(24): Show |
27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1691+6110_1691+611 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603430 | |||||||
| chrX:16603461 | C | G | 1 | a0001c0001t0001g0060 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1691+6080G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603461 | |||||||
| chrX:16603565 | G | T | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+5976C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603565 | |||||||
| chrX:16603585 | A | C | 1 | a0001c0002t0002g0127 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.1691+5956T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603585 | |||||||
| chrX:16603612 | C | CTAT | 69 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(66): Show |
69 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(66): Show |
intron_variant | MODIFIER | c.1691+5926_1691+592 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16603612 | |||||||
| chrX:16604000 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+5541A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604000 | |||||||
| chrX:16604061 | G | T | 1 | a0001c0002t0002g0076 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1691+5480C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604061 | |||||||
| chrX:16604449 | G | A | 2 | a0001c0001t0002g0072 a0001c0001t0002g0221 |
2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1691+5092C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604449 | |||||||
| chrX:16604565 | G | T | 1 | a0001c0001t0001g0172 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1691+4976C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604565 | |||||||
| chrX:16604586 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+4955C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604586 | |||||||
| chrX:16604642 | C | CA | 13 | a0001c0001t0001g0148 a0001c0001t0002g0034 a0001c0001t0003g0036 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1691+4898dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604642 | |||||||
| chrX:16604646 | A | C | 1 | a0001c0001t0002g0004 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1691+4895T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604646 | |||||||
| chrX:16604785 | C | T | 4 | a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0123 others(1): Show |
4 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(1): Show |
intron_variant | MODIFIER | c.1691+4756G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16604785 | |||||||
| chrX:16605060 | T | C | 1 | a0001c0001t0002g0090 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1691+4481A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605060 | |||||||
| chrX:16605312 | C | T | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+4229G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605312 | |||||||
| chrX:16605450 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1691+4091C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605450 | |||||||
| chrX:16605450 | G | T | 1 | a0001c0002t0002g0117 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1691+4091C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605450 | |||||||
| chrX:16605461 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+4080G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605461 | |||||||
| chrX:16605746 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+3795A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605746 | |||||||
| chrX:16605900 | G | C | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+3641C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605900 | |||||||
| chrX:16605944 | G | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+3597C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16605944 | |||||||
| chrX:16606089 | C | A | 1 | a0001c0001t0001g0058 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1691+3452G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606089 | |||||||
| chrX:16606101 | G | A | 36 | a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0042 others(33): Show |
36 | HG00738.hp1 HG01099.hp1 HG01168.hp1 others(33): Show |
intron_variant | MODIFIER | c.1691+3440C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606101 | |||||||
| chrX:16606180 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+3361A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606180 | |||||||
| chrX:16606583 | G | A | 5 | a0001c0001t0002g0075 a0001c0001t0002g0137 a0001c0001t0002g0194 others(2): Show |
5 | HG02280.hp1 HG02572.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.1691+2958C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606583 | |||||||
| chrX:16606854 | C | T | 26 | a0001c0002t0002g0002 a0001c0002t0002g0016 a0001c0002t0002g0026 others(23): Show |
26 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(23): Show |
intron_variant | MODIFIER | c.1691+2687G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606854 | |||||||
| chrX:16606971 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+2570G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16606971 | |||||||
| chrX:16607724 | C | T | 1 | a0001c0002t0002g0102 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1691+1817G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16607724 | |||||||
| chrX:16607859 | C | T | 1 | a0001c0001t0008g0180 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1691+1682G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16607859 | |||||||
| chrX:16608009 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1691+1532G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608009 | |||||||
| chrX:16608145 | G | T | 5 | a0001c0001t0001g0010 a0001c0001t0001g0081 a0001c0001t0001g0183 others(2): Show |
5 | HG01243.hp1 HG02486.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1691+1396C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608145 | |||||||
| chrX:16608220 | A | G | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1691+1321T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608220 | |||||||
| chrX:16608226 | A | T | 10 | a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0001g0101 others(7): Show |
10 | HG01099.hp1 HG01168.hp1 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.1691+1315T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608226 | |||||||
| chrX:16608230 | T | A | 28 | a0001c0001t0001g0189 a0001c0001t0002g0133 a0001c0002t0002g0002 others(25): Show |
28 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(25): Show |
intron_variant | MODIFIER | c.1691+1311A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608230 | |||||||
| chrX:16608321 | T | C | 1 | a0001c0001t0001g0141 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1691+1220A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608321 | |||||||
| chrX:16608322 | C | T | 1 | a0001c0001t0001g0141 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1691+1219G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608322 | |||||||
| chrX:16608907 | G | T | 74 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(71): Show |
74 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(71): Show |
intron_variant | MODIFIER | c.1691+634C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16608907 | |||||||
| chrX:16609060 | G | A | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+481C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16609060 | |||||||
| chrX:16609217 | A | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1691+324T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | 16609217 | |||||||
| chrX:16609850 | A | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-165T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16609850 | |||||||
| chrX:16609853 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1547-168A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16609853 | |||||||
| chrX:16609881 | T | C | 1 | a0001c0001t0002g0013 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1547-196A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16609881 | |||||||
| chrX:16610220 | C | A | 1 | a0001c0002t0002g0069 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.1547-535G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610220 | |||||||
| chrX:16610342 | T | G | 1 | a0001c0001t0001g0010 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1547-657A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610342 | |||||||
| chrX:16610403 | A | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-718T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610403 | |||||||
| chrX:16610676 | T | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1547-991A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610676 | |||||||
| chrX:16610876 | G | C | 1 | a0001c0001t0002g0004 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1547-1191C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610876 | |||||||
| chrX:16610878 | C | A | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1547-1193G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16610878 | |||||||
| chrX:16611052 | G | C | 1 | a0001c0001t0002g0014 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1547-1367C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611052 | |||||||
| chrX:16611166 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-1481C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611166 | |||||||
| chrX:16611259 | G | A | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1547-1574C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611259 | |||||||
| chrX:16611409 | C | A | 1 | a0001c0001t0001g0184 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1547-1724G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611409 | |||||||
| chrX:16611522 | T | TAA | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1547-1839_1547-183 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611522 | |||||||
| chrX:16611522 | TA | T | 63 | a0001c0001t0001g0017 a0001c0001t0001g0091 a0001c0001t0001g0123 others(60): Show |
63 | HG00438.hp2 HG00609.hp1 HG00735.hp1 others(60): Show |
intron_variant | MODIFIER | c.1547-1838delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611522 | |||||||
| chrX:16611526 | A | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-1841T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611526 | |||||||
| chrX:16611761 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-2076C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611761 | |||||||
| chrX:16611766 | G | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-2081C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611766 | |||||||
| chrX:16611795 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1547-2110G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611795 | |||||||
| chrX:16611826 | C | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1547-2141G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16611826 | |||||||
| chrX:16612488 | C | T | 27 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show |
27 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.1547-2803G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16612488 | |||||||
| chrX:16612872 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1547-3187A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16612872 | |||||||
| chrX:16613016 | C | G | 1 | a0001c0002t0002g0026 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1547-3331G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613016 | |||||||
| chrX:16613140 | C | T | 2 | a0001c0001t0001g0031 a0001c0001t0001g0088 |
2 | HG00438.hp1 NA18747.hp1 |
intron_variant | MODIFIER | c.1547-3455G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613140 | |||||||
| chrX:16613235 | C | T | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1547-3550G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613235 | |||||||
| chrX:16613484 | G | A | 1 | a0001c0001t0005g0059 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1546+3666C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613484 | |||||||
| chrX:16613495 | A | T | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1546+3655T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613495 | |||||||
| chrX:16613500 | G | A | 1 | a0001c0001t0001g0008 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1546+3650C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613500 | |||||||
| chrX:16613568 | G | T | 1 | a0001c0001t0004g0019 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1546+3582C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613568 | |||||||
| chrX:16613602 | C | CT | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1546+3547dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613602 | |||||||
| chrX:16613699 | T | G | 1 | a0001c0001t0002g0011 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1546+3451A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613699 | |||||||
| chrX:16613825 | A | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1546+3325T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613825 | |||||||
| chrX:16613856 | G | A | 2 | a0001c0001t0002g0072 a0001c0001t0002g0221 |
2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1546+3294C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613856 | |||||||
| chrX:16613896 | G | C | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1546+3254C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613896 | |||||||
| chrX:16613938 | C | T | 1 | a0001c0001t0004g0020 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1546+3212G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16613938 | |||||||
| chrX:16614105 | TA | T | 4 | a0001c0001t0001g0078 a0001c0001t0001g0193 a0001c0001t0001g0223 others(1): Show |
4 | HG01346.hp1 HG02015.hp1 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.1546+3044delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614105 | |||||||
| chrX:16614198 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1546+2952G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614198 | |||||||
| chrX:16614252 | C | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1546+2898G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614252 | |||||||
| chrX:16614366 | C | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1546+2784G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614366 | |||||||
| chrX:16614439 | G | A | 1 | a0001c0001t0001g0125 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1546+2711C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614439 | |||||||
| chrX:16614605 | A | G | 16 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0194 others(13): Show |
16 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.1546+2545T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614605 | |||||||
| chrX:16614889 | A | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1546+2261T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16614889 | |||||||
| chrX:16615132 | C | T | 1 | a0001c0001t0001g0154 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1546+2018G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615132 | |||||||
| chrX:16615610 | C | T | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1546+1540G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615610 | |||||||
| chrX:16615988 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1546+1162G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16615988 | |||||||
| chrX:16616079 | G | A | 1 | a0001c0001t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1546+1071C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616079 | |||||||
| chrX:16616107 | C | T | 1 | a0001c0001t0013g0225 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1546+1043G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616107 | |||||||
| chrX:16616112 | G | C | 1 | a0001c0001t0001g0060 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1546+1038C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616112 | |||||||
| chrX:16616237 | G | T | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1546+913C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616237 | |||||||
| chrX:16616409 | G | A | 1 | a0001c0001t0005g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1546+741C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616409 | |||||||
| chrX:16616938 | G | A | 5 | a0001c0001t0001g0046 a0001c0001t0001g0169 a0001c0001t0001g0170 others(2): Show |
5 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.1546+212C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 16/18 | chrX | 16616938 | |||||||
| chrX:16617825 | G | A | 1 | a0001c0001t0009g0001 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1450-579C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16617825 | |||||||
| chrX:16617927 | T | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1450-681A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16617927 | |||||||
| chrX:16618007 | A | C | 1 | a0001c0001t0001g0156 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1450-761T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16618007 | |||||||
| chrX:16618039 | A | G | 25 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(22): Show |
25 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.1450-793T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16618039 | |||||||
| chrX:16618089 | C | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1450-843G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16618089 | |||||||
| chrX:16619005 | G | A | 1 | a0001c0001t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1449+1272C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619005 | |||||||
| chrX:16619008 | C | T | 1 | a0001c0001t0007g0164 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1449+1269G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619008 | |||||||
| chrX:16619009 | G | A | 5 | a0001c0002t0002g0016 a0001c0002t0002g0073 a0001c0002t0002g0139 others(2): Show |
5 | HG01109.hp1 HG02559.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1449+1268C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619009 | |||||||
| chrX:16619117 | A | G | 26 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(23): Show |
26 | HG00280.hp1 HG00642.hp1 HG01168.hp2 others(23): Show |
intron_variant | MODIFIER | c.1449+1160T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619117 | |||||||
| chrX:16619118 | T | C | 27 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show |
27 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.1449+1159A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619118 | |||||||
| chrX:16619151 | C | T | 3 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0126 |
3 | HG00642.hp1 HG01975.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.1449+1126G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619151 | |||||||
| chrX:16619931 | T | C | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1449+346A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 15/18 | chrX | 16619931 | |||||||
| chrX:16620350 | C | T | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-18G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620350 | |||||||
| chrX:16620421 | ACTAT | A | 2 | a0001c0001t0002g0128 a0001c0003t0002g0138 |
2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1394-93_1394-90del others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620421 | |||||||
| chrX:16620487 | T | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-155A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620487 | |||||||
| chrX:16620516 | T | C | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-184A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620516 | |||||||
| chrX:16620532 | C | A | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-200G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620532 | |||||||
| chrX:16620771 | G | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-439C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620771 | |||||||
| chrX:16620847 | G | A | 27 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show |
27 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-515C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16620847 | |||||||
| chrX:16621238 | G | A | 2 | a0001c0001t0002g0049 a0001c0001t0002g0219 |
2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.1394-906C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621238 | |||||||
| chrX:16621269 | T | C | 73 | a0001c0001t0001g0048 a0001c0001t0002g0004 a0001c0001t0002g0005 others(70): Show |
73 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(70): Show |
intron_variant | MODIFIER | c.1394-937A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621269 | |||||||
| chrX:16621273 | A | G | 1 | a0001c0001t0001g0155 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1394-941T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621273 | |||||||
| chrX:16621325 | G | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-993C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621325 | |||||||
| chrX:16621446 | T | TATA | 32 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(29): Show |
32 | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(29): Show |
intron_variant | MODIFIER | c.1394-1117_1394-111 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | |||||||
| chrX:16621446 | T | TATAATA | 5 | a0001c0001t0001g0098 a0001c0001t0001g0159 a0001c0001t0002g0075 others(2): Show |
5 | HG01192.hp1 HG02615.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1394-1120_1394-111 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | |||||||
| chrX:16621446 | T | TATAATAA others(2): Show |
3 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0050 |
3 | HG00609.hp1 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1394-1123_1394-111 others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621446 | |||||||
| chrX:16621671 | A | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-1339T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16621671 | |||||||
| chrX:16622126 | C | T | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1394-1794G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622126 | |||||||
| chrX:16622334 | G | A | 1 | a0001c0001t0001g0172 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1394-2002C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622334 | |||||||
| chrX:16622409 | C | CA | 10 | a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0165 others(7): Show |
10 | HG00733.hp2 HG01069.hp1 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.1394-2078dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622409 | |||||||
| chrX:16622583 | A | G | 12 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1394-2251T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622583 | |||||||
| chrX:16622696 | A | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-2364T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622696 | |||||||
| chrX:16622710 | C | T | 22 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0040 others(19): Show |
22 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1394-2378G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16622710 | |||||||
| chrX:16623129 | T | C | 14 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1394-2797A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623129 | |||||||
| chrX:16623691 | C | T | 1 | a0001c0001t0001g0098 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1394-3359G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623691 | |||||||
| chrX:16623792 | C | CTTT | 11 | a0001c0002t0002g0026 a0001c0002t0002g0069 a0001c0002t0002g0076 others(8): Show |
11 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(8): Show |
intron_variant | MODIFIER | c.1394-3463_1394-346 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | |||||||
| chrX:16623792 | C | CTTTT | 11 | a0001c0001t0002g0034 a0001c0002t0002g0016 a0001c0002t0002g0064 others(8): Show |
11 | HG00438.hp2 HG01109.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-3464_1394-346 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | |||||||
| chrX:16623792 | CT | C | 112 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(109): Show |
112 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(109): Show |
intron_variant | MODIFIER | c.1394-3461delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | |||||||
| chrX:16623792 | CTT | C | 24 | a0001c0001t0001g0131 a0001c0001t0001g0161 a0001c0001t0001g0204 others(21): Show |
24 | HG00609.hp1 HG00735.hp2 HG01168.hp1 others(21): Show |
intron_variant | MODIFIER | c.1394-3462_1394-346 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | |||||||
| chrX:16623792 | CTTTTTTT others(6): Show |
C | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-3473_1394-346 others(17): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623792 | |||||||
| chrX:16623845 | G | A | 27 | a0001c0001t0002g0034 a0001c0001t0008g0180 a0001c0001t0008g0207 others(24): Show |
27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-3513C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16623845 | |||||||
| chrX:16624133 | G | A | 5 | a0001c0001t0002g0090 a0001c0001t0005g0041 a0001c0001t0005g0043 others(2): Show |
5 | HG00735.hp1 HG01074.hp1 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.1394-3801C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624133 | |||||||
| chrX:16624139 | A | AATAATGA others(35): Show |
1 | a0001c0001t0002g0074 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394-3849_1394-380 others(46): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624139 | |||||||
| chrX:16624140 | A | G | 9 | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0035 others(6): Show |
9 | HG01070.hp2 HG02055.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1394-3808T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624140 | |||||||
| chrX:16624144 | T | C | 39 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(36): Show |
39 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1394-3812A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624144 | |||||||
| chrX:16624185 | C | T | 27 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show |
27 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-3853G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624185 | |||||||
| chrX:16624560 | T | C | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-4228A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624560 | |||||||
| chrX:16624941 | A | G | 1 | a0001c0002t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1394-4609T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624941 | |||||||
| chrX:16624960 | T | G | 39 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(36): Show |
39 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(36): Show |
intron_variant | MODIFIER | c.1394-4628A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16624960 | |||||||
| chrX:16625012 | C | G | 2 | a0001c0001t0001g0007 a0001c0001t0001g0080 |
2 | NA18956.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.1394-4680G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625012 | |||||||
| chrX:16625149 | G | A | 25 | a0001c0001t0002g0034 a0001c0002t0002g0002 a0001c0002t0002g0016 others(22): Show |
25 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(22): Show |
intron_variant | MODIFIER | c.1394-4817C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625149 | |||||||
| chrX:16625210 | G | A | 27 | a0001c0001t0002g0034 a0001c0001t0008g0180 a0001c0001t0008g0207 others(24): Show |
27 | HG00438.hp2 HG01109.hp1 HG01975.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-4878C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625210 | |||||||
| chrX:16625306 | A | T | 1 | a0001c0001t0001g0080 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1394-4974T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625306 | |||||||
| chrX:16625307 | T | G | 1 | a0001c0001t0001g0080 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1394-4975A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625307 | |||||||
| chrX:16625642 | T | C | 1 | a0001c0001t0002g0074 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1394-5310A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625642 | |||||||
| chrX:16625676 | C | T | 18 | a0001c0002t0002g0002 a0001c0002t0002g0026 a0001c0002t0002g0064 others(15): Show |
18 | HG00438.hp2 HG01975.hp2 HG01978.hp1 others(15): Show |
intron_variant | MODIFIER | c.1394-5344G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625676 | |||||||
| chrX:16625727 | G | GAGGA | 38 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(35): Show |
38 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.1394-5396_1394-539 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625727 | |||||||
| chrX:16625782 | A | G | 67 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(64): Show |
67 | HG00438.hp2 HG00609.hp1 HG00733.hp2 others(64): Show |
intron_variant | MODIFIER | c.1394-5450T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625782 | |||||||
| chrX:16625845 | T | C | 2 | a0001c0001t0002g0005 a0001c0001t0002g0133 |
2 | HG02886.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1394-5513A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625845 | |||||||
| chrX:16625916 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0171 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1394-5584C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16625916 | |||||||
| chrX:16626054 | G | A | 1 | a0001c0001t0001g0063 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1394-5722C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626054 | |||||||
| chrX:16626318 | T | C | 27 | a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 others(24): Show |
27 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(24): Show |
intron_variant | MODIFIER | c.1394-5986A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626318 | |||||||
| chrX:16626492 | G | A | 1 | a0001c0001t0001g0132 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.1394-6160C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16626492 | |||||||
| chrX:16627002 | G | T | 7 | a0001c0001t0001g0081 a0001c0001t0004g0019 a0001c0001t0004g0020 others(4): Show |
7 | HG02486.hp1 HG02717.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1394-6670C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627002 | |||||||
| chrX:16627076 | T | G | 1 | a0001c0001t0001g0131 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1394-6744A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627076 | |||||||
| chrX:16627116 | G | A | 1 | a0001c0001t0002g0004 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1394-6784C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627116 | |||||||
| chrX:16627178 | A | G | 3 | a0001c0001t0001g0078 a0001c0001t0001g0193 a0001c0001t0001g0223 |
3 | HG02015.hp1 HG02683.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1394-6846T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627178 | |||||||
| chrX:16627373 | G | A | 23 | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0018 others(20): Show |
23 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1394-7041C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627373 | |||||||
| chrX:16627460 | T | C | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1394-7128A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627460 | |||||||
| chrX:16627545 | C | T | 8 | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0035 others(5): Show |
8 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1394-7213G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627545 | |||||||
| chrX:16627580 | C | G | 1 | a0001c0001t0001g0010 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1394-7248G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627580 | |||||||
| chrX:16627632 | GC | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-7301delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627632 | |||||||
| chrX:16627641 | G | A | 4 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025 others(1): Show |
4 | HG00280.hp1 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394-7309C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627641 | |||||||
| chrX:16627742 | T | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-7410A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627742 | |||||||
| chrX:16627914 | G | C | 4 | a0001c0001t0001g0066 a0001c0001t0001g0106 a0001c0001t0001g0107 others(1): Show |
4 | HG00738.hp1 HG01256.hp1 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.1394-7582C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16627914 | |||||||
| chrX:16628083 | G | A | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1394-7751C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628083 | |||||||
| chrX:16628145 | C | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-7813G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628145 | |||||||
| chrX:16628404 | C | T | 4 | a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(1): Show |
4 | HG02717.hp1 HG02809.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394-8072G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628404 | |||||||
| chrX:16628531 | A | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-8199T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628531 | |||||||
| chrX:16628555 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-8223C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628555 | |||||||
| chrX:16628569 | T | C | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1394-8237A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628569 | |||||||
| chrX:16628589 | G | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-8257C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628589 | |||||||
| chrX:16628602 | G | C | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-8270C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628602 | |||||||
| chrX:16628692 | T | A | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1394-8360A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628692 | |||||||
| chrX:16628908 | C | T | 2 | a0001c0001t0001g0066 a0001c0001t0001g0106 |
2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1394-8576G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628908 | |||||||
| chrX:16628936 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1394-8604G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628936 | |||||||
| chrX:16628947 | C | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-8615G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628947 | |||||||
| chrX:16628947 | C | T | 1 | a0001c0001t0001g0192 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.1394-8615G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16628947 | |||||||
| chrX:16629130 | A | G | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1394-8798T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629130 | |||||||
| chrX:16629185 | T | C | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1394-8853A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629185 | |||||||
| chrX:16629341 | G | A | 1 | a0001c0001t0001g0205 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1394-9009C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629341 | |||||||
| chrX:16629382 | G | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-9050C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629382 | |||||||
| chrX:16629408 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-9076C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629408 | |||||||
| chrX:16629532 | A | AT | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1394-9201dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629532 | |||||||
| chrX:16629532 | AT | A | 29 | a0001c0001t0001g0092 a0001c0001t0002g0006 a0001c0001t0002g0011 others(26): Show |
29 | HG00438.hp2 HG01106.hp1 HG01109.hp1 others(26): Show |
intron_variant | MODIFIER | c.1394-9201delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629532 | |||||||
| chrX:16629568 | C | T | 1 | a0001c0001t0001g0154 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1394-9236G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629568 | |||||||
| chrX:16629585 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1394-9253C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629585 | |||||||
| chrX:16629699 | C | T | 4 | a0001c0001t0002g0006 a0001c0001t0002g0074 a0001c0001t0002g0128 others(1): Show |
4 | HG01106.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.1394-9367G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629699 | |||||||
| chrX:16629804 | C | A | 1 | a0001c0001t0001g0082 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1393+9343G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16629804 | |||||||
| chrX:16630201 | A | G | 2 | a0001c0001t0002g0005 a0001c0001t0002g0133 |
2 | HG02886.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1393+8946T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630201 | |||||||
| chrX:16630251 | A | AT | 27 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0120 others(24): Show |
27 | HG00438.hp2 HG00733.hp2 HG01069.hp1 others(24): Show |
intron_variant | MODIFIER | c.1393+8895dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | |||||||
| chrX:16630251 | A | T | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1393+8896T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | |||||||
| chrX:16630251 | AT | A | 16 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0017 others(13): Show |
16 | HG00280.hp1 HG01106.hp1 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1393+8895delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | |||||||
| chrX:16630251 | ATT | A | 23 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0023 others(20): Show |
23 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1393+8894_1393+889 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630251 | |||||||
| chrX:16630298 | A | T | 1 | a0001c0001t0002g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1393+8849T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630298 | |||||||
| chrX:16630349 | G | A | 2 | a0001c0001t0001g0066 a0001c0001t0001g0106 |
2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1393+8798C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630349 | |||||||
| chrX:16630382 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+8765C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630382 | |||||||
| chrX:16630533 | T | C | 14 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+8614A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630533 | |||||||
| chrX:16630738 | G | GT | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+8408dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630738 | |||||||
| chrX:16630789 | G | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+8358C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16630789 | |||||||
| chrX:16631024 | T | C | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1393+8123A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631024 | |||||||
| chrX:16631273 | G | A | 1 | a0001c0001t0002g0049 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.1393+7874C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631273 | |||||||
| chrX:16631359 | A | T | 1 | a0001c0001t0004g0032 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.1393+7788T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631359 | |||||||
| chrX:16631370 | T | C | 2 | a0001c0001t0002g0005 a0001c0001t0002g0133 |
2 | HG02886.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1393+7777A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631370 | |||||||
| chrX:16631402 | C | T | 3 | a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0160 |
3 | NA18986.hp1 NA19006.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.1393+7745G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631402 | |||||||
| chrX:16631561 | T | C | 1 | a0001c0001t0002g0009 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1393+7586A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631561 | |||||||
| chrX:16631639 | C | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+7508G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16631639 | |||||||
| chrX:16632021 | A | G | 5 | a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0123 others(2): Show |
5 | NA18959.hp1 NA18994.hp1 NA18995.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393+7126T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632021 | |||||||
| chrX:16632157 | C | T | 4 | a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show |
4 | HG02735.hp1 HG02818.hp1 NA20752.hp1 others(1): Show |
intron_variant | MODIFIER | c.1393+6990G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632157 | |||||||
| chrX:16632308 | A | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+6839T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632308 | |||||||
| chrX:16632432 | T | C | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+6715A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16632432 | |||||||
| chrX:16633038 | G | A | 3 | a0001c0001t0002g0075 a0001c0001t0002g0128 a0001c0003t0002g0138 |
3 | HG01106.hp1 HG02615.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1393+6109C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633038 | |||||||
| chrX:16633084 | GT | G | 147 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(144): Show |
147 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(144): Show |
intron_variant | MODIFIER | c.1393+6062delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633084 | |||||||
| chrX:16633084 | GTTT | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+6060_1393+606 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633084 | |||||||
| chrX:16633091 | T | G | 23 | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0018 others(20): Show |
23 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(20): Show |
intron_variant | MODIFIER | c.1393+6056A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633091 | |||||||
| chrX:16633093 | T | G | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1393+6054A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633093 | |||||||
| chrX:16633139 | G | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+6008C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633139 | |||||||
| chrX:16633335 | C | T | 1 | a0001c0001t0006g0119 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1393+5812G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633335 | |||||||
| chrX:16633458 | C | T | 1 | a0001c0001t0002g0011 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.1393+5689G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633458 | |||||||
| chrX:16633526 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1393+5621C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633526 | |||||||
| chrX:16633666 | A | G | 3 | a0001c0002t0002g0076 a0001c0002t0002g0215 a0001c0002t0002g0216 |
3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1393+5481T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16633666 | |||||||
| chrX:16634097 | C | A | 1 | a0001c0001t0001g0097 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1393+5050G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634097 | |||||||
| chrX:16634701 | C | A | 5 | a0001c0002t0002g0016 a0001c0002t0002g0073 a0001c0002t0002g0139 others(2): Show |
5 | HG01109.hp1 HG02559.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1393+4446G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634701 | |||||||
| chrX:16634792 | A | T | 1 | a0001c0001t0005g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1393+4355T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634792 | |||||||
| chrX:16634905 | T | C | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1393+4242A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634905 | |||||||
| chrX:16634957 | GA | G | 22 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0040 others(19): Show |
22 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.1393+4189delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634957 | |||||||
| chrX:16634959 | A | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+4188T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16634959 | |||||||
| chrX:16635000 | G | A | 1 | a0001c0001t0005g0041 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.1393+4147C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635000 | |||||||
| chrX:16635008 | A | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+4139T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635008 | |||||||
| chrX:16635144 | T | C | 1 | a0001c0001t0002g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1393+4003A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635144 | |||||||
| chrX:16635363 | G | GA | 5 | a0001c0001t0001g0130 a0001c0001t0001g0192 a0001c0001t0001g0198 others(2): Show |
5 | HG01109.hp1 HG02602.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393+3783dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635363 | |||||||
| chrX:16635374 | G | A | 1 | a0001c0001t0001g0199 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1393+3773C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635374 | |||||||
| chrX:16635597 | C | G | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+3550G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635597 | |||||||
| chrX:16635771 | T | C | 3 | a0001c0002t0002g0016 a0001c0002t0002g0139 a0001c0002t0002g0206 |
3 | HG01109.hp1 HG02559.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1393+3376A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635771 | |||||||
| chrX:16635817 | A | C | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1393+3330T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635817 | |||||||
| chrX:16635989 | G | T | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1393+3158C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16635989 | |||||||
| chrX:16636287 | C | T | 2 | a0001c0001t0001g0153 a0001c0001t0001g0159 |
2 | HG00639.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.1393+2860G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636287 | |||||||
| chrX:16636335 | C | T | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1393+2812G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636335 | |||||||
| chrX:16636350 | A | ATGCCACT others(1853): Show |
1 | a0001c0001t0002g0195 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1393+2796_1393+279 others(1864): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636350 | |||||||
| chrX:16636396 | A | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2751T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636396 | |||||||
| chrX:16636653 | G | A | 30 | a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 others(27): Show |
30 | HG00438.hp2 HG01106.hp1 HG01109.hp1 others(27): Show |
intron_variant | MODIFIER | c.1393+2494C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636653 | |||||||
| chrX:16636741 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2406C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636741 | |||||||
| chrX:16636768 | C | CA | 14 | a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0002g0034 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+2378dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636768 | |||||||
| chrX:16636789 | C | T | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1393+2358G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636789 | |||||||
| chrX:16636809 | T | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2338A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636809 | |||||||
| chrX:16636896 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1393+2251C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636896 | |||||||
| chrX:16636904 | C | G | 14 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+2243G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636904 | |||||||
| chrX:16636912 | G | A | 14 | a0001c0001t0002g0034 a0001c0001t0003g0036 a0001c0001t0003g0142 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1393+2235C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636912 | |||||||
| chrX:16636926 | T | A | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1393+2221A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636926 | |||||||
| chrX:16636927 | A | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+2220T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636927 | |||||||
| chrX:16636929 | A | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+2218T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16636929 | |||||||
| chrX:16637288 | G | A | 1 | a0001c0002t0002g0220 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1393+1859C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637288 | |||||||
| chrX:16637573 | T | C | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1393+1574A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637573 | |||||||
| chrX:16637678 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+1469G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637678 | |||||||
| chrX:16637773 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1393+1374C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16637773 | |||||||
| chrX:16638083 | A | G | 115 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(112): Show |
115 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.1393+1064T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638083 | |||||||
| chrX:16638123 | T | C | 128 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(125): Show |
128 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(125): Show |
intron_variant | MODIFIER | c.1393+1024A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638123 | |||||||
| chrX:16638124 | A | G | 15 | a0001c0001t0002g0034 a0001c0001t0002g0084 a0001c0001t0003g0036 others(12): Show |
15 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(12): Show |
intron_variant | MODIFIER | c.1393+1023T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638124 | |||||||
| chrX:16638204 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1393+943C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638204 | |||||||
| chrX:16638254 | C | CA | 7 | a0001c0001t0001g0007 a0001c0001t0001g0158 a0001c0001t0001g0193 others(4): Show |
7 | HG02015.hp1 HG02683.hp1 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1393+892dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638254 | |||||||
| chrX:16638254 | CA | C | 5 | a0001c0001t0001g0039 a0001c0001t0001g0095 a0001c0001t0001g0132 others(2): Show |
5 | HG01515.hp1 HG02809.hp1 NA18948.hp1 others(2): Show |
intron_variant | MODIFIER | c.1393+892delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638254 | |||||||
| chrX:16638367 | C | T | 1 | a0001c0001t0001g0003 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1393+780G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638367 | |||||||
| chrX:16638583 | T | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1393+564A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638583 | |||||||
| chrX:16638998 | G | A | 2 | a0001c0001t0002g0006 a0001c0001t0002g0074 |
2 | HG03209.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.1393+149C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16638998 | |||||||
| chrX:16639033 | C | T | 1 | a0001c0001t0001g0131 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1393+114G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | 16639033 | |||||||
| chrX:16639313 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-70C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639313 | |||||||
| chrX:16639504 | C | T | 1 | a0001c0001t0008g0180 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1297-261G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639504 | |||||||
| chrX:16639731 | G | GAGAA | 11 | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 others(8): Show |
11 | HG01109.hp1 HG02055.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-492_1297-489d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639731 | |||||||
| chrX:16639731 | GAGAA | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-492_1297-489d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639731 | |||||||
| chrX:16639777 | A | AAAAAG | 9 | a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0045 others(6): Show |
9 | HG00609.hp1 HG00735.hp2 HG01258.hp1 others(6): Show |
intron_variant | MODIFIER | c.1297-535_1297-534i others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAAGAA others(2): Show |
3 | a0001c0001t0002g0004 a0001c0001t0002g0090 a0001c0001t0005g0043 |
3 | HG00735.hp1 HG02559.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1297-535_1297-534i others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAAGAA others(6): Show |
5 | a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0174 others(2): Show |
5 | HG01361.hp1 HG02135.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-535_1297-534i others(15): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAAGAA others(10): Show |
1 | a0001c0001t0002g0163 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1297-535_1297-534i others(19): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAG | 41 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0029 others(38): Show |
41 | HG00140.hp1 HG00438.hp1 HG00733.hp2 others(38): Show |
intron_variant | MODIFIER | c.1297-538_1297-535d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAGAAA others(1): Show |
31 | a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0056 others(28): Show |
31 | HG00621.hp1 HG01070.hp1 HG01070.hp2 others(28): Show |
intron_variant | MODIFIER | c.1297-542_1297-535d others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAGAAA others(5): Show |
7 | a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0145 others(4): Show |
7 | HG01106.hp1 HG02735.hp1 HG03942.hp1 others(4): Show |
intron_variant | MODIFIER | c.1297-546_1297-535d others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | A | AAAAGAAA others(9): Show |
2 | a0001c0001t0001g0003 a0001c0001t0001g0132 |
2 | NA18955.hp1 NA18960.hp1 |
intron_variant | MODIFIER | c.1297-550_1297-535d others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | AAAAG | A | 32 | a0001c0001t0001g0008 a0001c0001t0001g0046 a0001c0001t0001g0078 others(29): Show |
32 | HG00642.hp1 HG00673.hp1 HG01243.hp1 others(29): Show |
intron_variant | MODIFIER | c.1297-538_1297-535d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | AAAAGAAA others(1): Show |
A | 20 | a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0080 others(17): Show |
20 | HG00639.hp1 HG01167.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.1297-542_1297-535d others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | AAAAGAAA others(5): Show |
A | 4 | a0001c0001t0001g0031 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show |
4 | HG02071.hp1 HG03486.hp2 NA18747.hp1 others(1): Show |
intron_variant | MODIFIER | c.1297-546_1297-535d others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | AAAAGAAA others(9): Show |
A | 5 | a0001c0001t0001g0024 a0001c0001t0001g0093 a0001c0002t0002g0087 others(2): Show |
5 | HG00438.hp2 HG02523.hp1 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-550_1297-535d others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639777 | AAAAGAAA others(13): Show |
A | 14 | a0001c0001t0001g0213 a0001c0002t0002g0002 a0001c0002t0002g0026 others(11): Show |
14 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(11): Show |
intron_variant | MODIFIER | c.1297-554_1297-535d others(22): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639777 | |||||||
| chrX:16639778 | AAAG | A | 4 | a0001c0001t0002g0040 a0001c0001t0002g0085 a0001c0001t0002g0222 others(1): Show |
4 | HG01074.hp1 HG02074.hp1 HG02145.hp1 others(1): Show |
intron_variant | MODIFIER | c.1297-538_1297-536d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639778 | |||||||
| chrX:16639778 | AAAGAAAG others(4): Show |
A | 1 | a0001c0001t0002g0018 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1297-546_1297-536d others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639778 | |||||||
| chrX:16639834 | A | AG | 2 | a0001c0001t0002g0013 a0001c0001t0002g0219 |
2 | HG00735.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1297-592_1297-591i others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16639834 | |||||||
| chrX:16640037 | T | C | 3 | a0001c0001t0001g0078 a0001c0001t0001g0193 a0001c0001t0001g0223 |
3 | HG02015.hp1 HG02683.hp1 HG03688.hp1 |
intron_variant | MODIFIER | c.1297-794A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640037 | |||||||
| chrX:16640190 | T | C | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-947A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640190 | |||||||
| chrX:16640262 | G | A | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-1019C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640262 | |||||||
| chrX:16640421 | T | G | 1 | a0001c0001t0001g0100 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1297-1178A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640421 | |||||||
| chrX:16640461 | C | T | 5 | a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0178 others(2): Show |
5 | HG00733.hp2 HG01069.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1297-1218G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640461 | |||||||
| chrX:16640516 | A | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-1273T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640516 | |||||||
| chrX:16640621 | G | A | 2 | a0001c0001t0001g0169 a0001c0001t0001g0171 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.1297-1378C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640621 | |||||||
| chrX:16640719 | C | G | 25 | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0018 others(22): Show |
25 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(22): Show |
intron_variant | MODIFIER | c.1297-1476G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640719 | |||||||
| chrX:16640977 | C | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-1734G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16640977 | |||||||
| chrX:16641152 | A | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-1909T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641152 | |||||||
| chrX:16641161 | A | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-1918T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641161 | |||||||
| chrX:16641289 | C | A | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1297-2046G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641289 | |||||||
| chrX:16641312 | C | T | 5 | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 others(2): Show |
5 | HG02055.hp1 HG02647.hp1 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-2069G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641312 | |||||||
| chrX:16641458 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-2215C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641458 | |||||||
| chrX:16641531 | G | T | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-2288C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641531 | |||||||
| chrX:16641668 | G | A | 1 | a0001c0001t0004g0021 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1297-2425C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641668 | |||||||
| chrX:16641719 | G | C | 1 | a0001c0001t0002g0009 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.1297-2476C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641719 | |||||||
| chrX:16641813 | T | G | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-2570A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641813 | |||||||
| chrX:16641881 | T | C | 1 | a0001c0001t0001g0205 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1297-2638A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16641881 | |||||||
| chrX:16642029 | G | A | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1297-2786C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642029 | |||||||
| chrX:16642130 | C | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-2887G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642130 | |||||||
| chrX:16642135 | A | G | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-2892T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642135 | |||||||
| chrX:16642310 | G | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-3067C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642310 | |||||||
| chrX:16642427 | C | T | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-3184G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642427 | |||||||
| chrX:16642715 | A | G | 2 | a0001c0001t0002g0023 a0001c0001t0002g0196 |
2 | HG02293.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1297-3472T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642715 | |||||||
| chrX:16642770 | G | A | 1 | a0001c0001t0001g0131 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1297-3527C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16642770 | |||||||
| chrX:16643094 | C | A | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-3851G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643094 | |||||||
| chrX:16643145 | C | G | 2 | a0001c0001t0001g0170 a0001c0001t0001g0203 |
2 | HG00140.hp1 HG01516.hp1 |
intron_variant | MODIFIER | c.1297-3902G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643145 | |||||||
| chrX:16643480 | T | C | 2 | a0001c0001t0001g0066 a0001c0001t0001g0106 |
2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1297-4237A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643480 | |||||||
| chrX:16643496 | C | T | 1 | a0001c0001t0001g0062 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1297-4253G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643496 | |||||||
| chrX:16643499 | G | A | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1297-4256C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643499 | |||||||
| chrX:16643755 | A | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-4512T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643755 | |||||||
| chrX:16643855 | T | A | 2 | a0001c0001t0001g0198 a0001c0001t0001g0199 |
2 | HG02071.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.1297-4612A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16643855 | |||||||
| chrX:16644045 | T | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-4802A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644045 | |||||||
| chrX:16644070 | G | A | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-4827C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644070 | |||||||
| chrX:16644139 | C | CT | 6 | a0001c0001t0001g0152 a0001c0001t0001g0184 a0001c0001t0007g0164 others(3): Show |
6 | HG01978.hp2 HG03098.hp1 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1297-4897dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644139 | |||||||
| chrX:16644403 | T | G | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-5160A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644403 | |||||||
| chrX:16644476 | A | T | 2 | a0001c0001t0001g0125 a0001c0001t0001g0156 |
2 | HG00673.hp1 NA18953.hp1 |
intron_variant | MODIFIER | c.1297-5233T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644476 | |||||||
| chrX:16644493 | G | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-5250C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644493 | |||||||
| chrX:16644677 | C | T | 1 | a0001c0001t0002g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1297-5434G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16644677 | |||||||
| chrX:16645139 | T | C | 16 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 others(13): Show |
16 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.1297-5896A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645139 | |||||||
| chrX:16645150 | C | CTTTT | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-5911_1297-590 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645150 | |||||||
| chrX:16645284 | T | C | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6041A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645284 | |||||||
| chrX:16645340 | T | C | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1297-6097A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645340 | |||||||
| chrX:16645431 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1297-6188C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645431 | |||||||
| chrX:16645464 | G | A | 1 | a0001c0001t0002g0038 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1297-6221C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645464 | |||||||
| chrX:16645708 | A | G | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6465T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645708 | |||||||
| chrX:16645830 | G | C | 3 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 |
3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-6587C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645830 | |||||||
| chrX:16645890 | C | G | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6647G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16645890 | |||||||
| chrX:16646084 | G | A | 1 | a0001c0001t0001g0173 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1297-6841C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646084 | |||||||
| chrX:16646125 | A | G | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-6882T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646125 | |||||||
| chrX:16646141 | C | A | 16 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 others(13): Show |
16 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.1297-6898G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646141 | |||||||
| chrX:16646141 | C | G | 113 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(110): Show |
113 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(110): Show |
intron_variant | MODIFIER | c.1297-6898G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646141 | |||||||
| chrX:16646249 | C | T | 1 | a0001c0001t0001g0061 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1297-7006G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646249 | |||||||
| chrX:16646283 | G | A | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-7040C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646283 | |||||||
| chrX:16646765 | G | C | 13 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1297-7522C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646765 | |||||||
| chrX:16646954 | C | T | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-7711G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646954 | |||||||
| chrX:16646960 | C | G | 3 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 |
3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-7717G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16646960 | |||||||
| chrX:16647255 | C | CT | 16 | a0001c0001t0001g0067 a0001c0001t0001g0081 a0001c0001t0001g0107 others(13): Show |
16 | HG01256.hp1 HG01361.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.1297-8013dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | |||||||
| chrX:16647255 | C | CTTTTTT | 9 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(6): Show |
9 | HG00733.hp2 HG01070.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.1297-8018_1297-801 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | |||||||
| chrX:16647255 | C | CTTTTTTT others(4): Show |
1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-8023_1297-801 others(15): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | |||||||
| chrX:16647255 | CT | C | 21 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0054 others(18): Show |
21 | HG01070.hp2 HG01099.hp1 HG01169.hp1 others(18): Show |
intron_variant | MODIFIER | c.1297-8013delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | |||||||
| chrX:16647255 | CTT | C | 20 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0040 others(17): Show |
20 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.1297-8014_1297-801 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647255 | |||||||
| chrX:16647511 | G | A | 1 | a0001c0002t0002g0026 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1297-8268C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647511 | |||||||
| chrX:16647557 | C | T | 11 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1297-8314G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647557 | |||||||
| chrX:16647564 | G | A | 3 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 |
3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-8321C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647564 | |||||||
| chrX:16647649 | A | G | 1 | a0001c0001t0002g0085 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1297-8406T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647649 | |||||||
| chrX:16647820 | G | A | 2 | a0001c0001t0001g0153 a0001c0001t0001g0159 |
2 | HG00639.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.1297-8577C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16647820 | |||||||
| chrX:16648059 | C | T | 2 | a0001c0001t0001g0093 a0001c0001t0001g0094 |
2 | NA18612.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1297-8816G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648059 | |||||||
| chrX:16648428 | C | G | 1 | a0001c0001t0001g0093 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1297-9185G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648428 | |||||||
| chrX:16648430 | G | A | 1 | a0001c0001t0001g0063 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1297-9187C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648430 | |||||||
| chrX:16648528 | C | A | 3 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 |
3 | HG02572.hp1 HG02723.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.1297-9285G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648528 | |||||||
| chrX:16648528 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1297-9285G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16648528 | |||||||
| chrX:16649101 | C | T | 197 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(194): Show |
197 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(194): Show |
intron_variant | MODIFIER | c.1297-9858G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16649101 | |||||||
| chrX:16649345 | C | T | 9 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0169 others(6): Show |
9 | HG00140.hp1 HG00438.hp1 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.1297-10102G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16649345 | |||||||
| chrX:16649350 | C | A | 8 | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0035 others(5): Show |
8 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(5): Show |
intron_variant | MODIFIER | c.1297-10107G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16649350 | |||||||
| chrX:16650102 | T | G | 2 | a0001c0001t0002g0194 a0001c0001t0002g0195 |
2 | HG02572.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.1297-10859A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650102 | |||||||
| chrX:16650374 | C | T | 1 | a0001c0002t0002g0139 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1297-11131G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650374 | |||||||
| chrX:16650511 | C | CT | 20 | a0001c0001t0001g0025 a0001c0001t0001g0080 a0001c0001t0001g0098 others(17): Show |
20 | HG00621.hp1 HG01255.hp1 HG01358.hp1 others(17): Show |
intron_variant | MODIFIER | c.1297-11269dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | |||||||
| chrX:16650511 | C | CTT | 12 | a0001c0001t0002g0005 a0001c0001t0002g0194 a0001c0001t0003g0036 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1297-11270_1297-11 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | |||||||
| chrX:16650511 | CT | C | 31 | a0001c0001t0001g0213 a0001c0001t0002g0004 a0001c0001t0002g0006 others(28): Show |
31 | HG00438.hp2 HG01106.hp1 HG01109.hp1 others(28): Show |
intron_variant | MODIFIER | c.1297-11269delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650511 | |||||||
| chrX:16650512 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1297-11269A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650512 | |||||||
| chrX:16650545 | C | T | 1 | a0001c0002t0002g0215 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1297-11302G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650545 | |||||||
| chrX:16650547 | C | T | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1297-11304G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650547 | |||||||
| chrX:16650556 | A | G | 17 | a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0002g0194 others(14): Show |
17 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.1297-11313T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650556 | |||||||
| chrX:16650644 | A | C | 42 | a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0018 others(39): Show |
42 | HG00609.hp1 HG00733.hp2 HG00735.hp1 others(39): Show |
intron_variant | MODIFIER | c.1297-11401T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650644 | |||||||
| chrX:16650997 | A | G | 17 | a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0002g0194 others(14): Show |
17 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.1297-11754T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16650997 | |||||||
| chrX:16651000 | C | T | 26 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(23): Show |
26 | HG00280.hp1 HG00642.hp1 HG01168.hp2 others(23): Show |
intron_variant | MODIFIER | c.1297-11757G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651000 | |||||||
| chrX:16651235 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.1297-11992C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651235 | |||||||
| chrX:16651347 | C | G | 1 | a0001c0001t0001g0060 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1297-12104G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651347 | |||||||
| chrX:16651378 | A | G | 1 | a0001c0001t0005g0044 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1297-12135T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651378 | |||||||
| chrX:16651760 | T | C | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1297-12517A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651760 | |||||||
| chrX:16651856 | A | G | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-12613T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651856 | |||||||
| chrX:16651884 | A | G | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1297-12641T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651884 | |||||||
| chrX:16651913 | A | G | 12 | a0001c0001t0002g0005 a0001c0001t0002g0023 a0001c0001t0003g0036 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1297-12670T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16651913 | |||||||
| chrX:16652019 | G | T | 5 | a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 others(2): Show |
5 | HG01934.hp1 HG02083.hp1 NA18969.hp1 others(2): Show |
intron_variant | MODIFIER | c.1297-12776C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652019 | |||||||
| chrX:16652024 | G | C | 19 | a0001c0001t0001g0131 a0001c0001t0002g0075 a0001c0001t0002g0133 others(16): Show |
19 | HG00438.hp2 HG01975.hp2 HG01978.hp1 others(16): Show |
intron_variant | MODIFIER | c.1297-12781C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652024 | |||||||
| chrX:16652045 | C | T | 21 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0045 others(18): Show |
21 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1297-12802G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652045 | |||||||
| chrX:16652204 | A | AGT | 5 | a0001c0001t0001g0120 a0001c0002t0002g0016 a0001c0002t0002g0139 others(2): Show |
5 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1297-12963_1297-12 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652204 | |||||||
| chrX:16652254 | T | C | 1 | a0001c0001t0002g0084 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1297-13011A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652254 | |||||||
| chrX:16652660 | C | T | 1 | a0001c0001t0001g0047 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.1297-13417G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652660 | |||||||
| chrX:16652745 | GT | G | 3 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0002t0012g0051 |
3 | HG02451.hp2 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1297-13503delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652745 | |||||||
| chrX:16652840 | C | T | 9 | a0001c0001t0001g0120 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show |
9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1297-13597G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652840 | |||||||
| chrX:16652963 | T | C | 2 | a0001c0001t0002g0163 a0001c0001t0002g0201 |
2 | HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1297-13720A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16652963 | |||||||
| chrX:16653107 | T | C | 2 | a0001c0001t0007g0164 a0001c0001t0007g0167 |
2 | HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1297-13864A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653107 | |||||||
| chrX:16653324 | C | T | 1 | a0001c0001t0001g0031 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1297-14081G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653324 | |||||||
| chrX:16653482 | C | T | 9 | a0001c0001t0001g0120 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show |
9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296+14032G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653482 | |||||||
| chrX:16653675 | TA | T | 8 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0169 others(5): Show |
8 | HG00140.hp1 HG00438.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.1296+13838delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653675 | |||||||
| chrX:16653677 | T | G | 8 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0169 others(5): Show |
8 | HG00140.hp1 HG00438.hp1 HG01167.hp1 others(5): Show |
intron_variant | MODIFIER | c.1296+13837A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653677 | |||||||
| chrX:16653805 | G | A | 6 | a0001c0001t0002g0034 a0001c0001t0002g0194 a0001c0001t0002g0195 others(3): Show |
6 | HG02572.hp1 HG02615.hp1 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1296+13709C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653805 | |||||||
| chrX:16653868 | G | C | 1 | a0001c0001t0002g0040 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1296+13646C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653868 | |||||||
| chrX:16653997 | A | C | 2 | a0001c0001t0001g0155 a0001c0001t0001g0158 |
2 | HG02056.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.1296+13517T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16653997 | |||||||
| chrX:16654135 | G | A | 29 | a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0023 others(26): Show |
29 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(26): Show |
intron_variant | MODIFIER | c.1296+13379C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654135 | |||||||
| chrX:16654293 | A | G | 12 | a0001c0001t0001g0120 a0001c0001t0002g0006 a0001c0001t0002g0011 others(9): Show |
12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+13221T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654293 | |||||||
| chrX:16654511 | G | A | 1 | a0001c0001t0001g0123 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1296+13003C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654511 | |||||||
| chrX:16654512 | G | A | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1296+13002C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654512 | |||||||
| chrX:16654552 | C | T | 4 | a0001c0001t0002g0018 a0001c0001t0002g0089 a0001c0001t0002g0168 others(1): Show |
4 | HG02135.hp1 HG02165.hp2 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.1296+12962G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654552 | |||||||
| chrX:16654755 | A | AAG | 42 | a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0054 others(39): Show |
42 | HG00438.hp2 HG00621.hp1 HG01928.hp1 others(39): Show |
intron_variant | MODIFIER | c.1296+12757_1296+12 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654755 | |||||||
| chrX:16654755 | A | AAGAG | 10 | a0001c0001t0001g0120 a0001c0001t0002g0006 a0001c0001t0008g0180 others(7): Show |
10 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.1296+12755_1296+12 others(10): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654755 | |||||||
| chrX:16654889 | A | G | 3 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 |
3 | HG01928.hp1 HG01978.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.1296+12625T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16654889 | |||||||
| chrX:16655155 | G | C | 23 | a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0006 others(20): Show |
23 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(20): Show |
intron_variant | MODIFIER | c.1296+12359C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655155 | |||||||
| chrX:16655166 | G | A | 11 | a0001c0001t0002g0005 a0001c0001t0003g0036 a0001c0001t0003g0142 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1296+12348C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655166 | |||||||
| chrX:16655176 | A | G | 9 | a0001c0001t0001g0120 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show |
9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296+12338T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655176 | |||||||
| chrX:16655415 | G | A | 12 | a0001c0001t0001g0120 a0001c0001t0002g0006 a0001c0001t0002g0011 others(9): Show |
12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+12099C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655415 | |||||||
| chrX:16655489 | G | T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0083 |
2 | HG00639.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.1296+12025C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655489 | |||||||
| chrX:16655490 | G | T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0083 |
2 | HG00639.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.1296+12024C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655490 | |||||||
| chrX:16655544 | G | A | 12 | a0001c0001t0001g0120 a0001c0001t0002g0006 a0001c0001t0002g0011 others(9): Show |
12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+11970C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16655544 | |||||||
| chrX:16656234 | G | GA | 30 | a0001c0001t0001g0131 a0001c0001t0001g0214 a0001c0001t0002g0004 others(27): Show |
30 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(27): Show |
intron_variant | MODIFIER | c.1296+11279dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656234 | |||||||
| chrX:16656284 | A | G | 1 | a0001c0001t0001g0080 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.1296+11230T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656284 | |||||||
| chrX:16656288 | G | T | 1 | a0001c0001t0001g0088 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1296+11226C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656288 | |||||||
| chrX:16656412 | C | CT | 12 | a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0003g0036 others(9): Show |
12 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
intron_variant | MODIFIER | c.1296+11101dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656412 | |||||||
| chrX:16656615 | C | T | 2 | a0001c0001t0001g0093 a0001c0001t0001g0094 |
2 | NA18612.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1296+10899G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656615 | |||||||
| chrX:16656660 | C | T | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1296+10854G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656660 | |||||||
| chrX:16656764 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0161 |
2 | HG01168.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.1296+10750G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656764 | |||||||
| chrX:16656796 | G | A | 40 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(37): Show |
40 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(37): Show |
intron_variant | MODIFIER | c.1296+10718C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656796 | |||||||
| chrX:16656873 | G | GT | 29 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(26): Show |
29 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(26): Show |
intron_variant | MODIFIER | c.1296+10640dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16656873 | |||||||
| chrX:16657186 | G | A | 1 | a0001c0002t0002g0073 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1296+10328C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657186 | |||||||
| chrX:16657189 | C | CT | 43 | a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 others(40): Show |
43 | HG00609.hp1 HG00733.hp2 HG00735.hp1 others(40): Show |
intron_variant | MODIFIER | c.1296+10324dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657189 | |||||||
| chrX:16657189 | CT | C | 8 | a0001c0001t0001g0030 a0001c0001t0001g0116 a0001c0001t0001g0123 others(5): Show |
8 | HG01070.hp2 HG01106.hp1 HG01516.hp1 others(5): Show |
intron_variant | MODIFIER | c.1296+10324delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657189 | |||||||
| chrX:16657318 | T | C | 51 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0120 others(48): Show |
51 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1296+10196A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657318 | |||||||
| chrX:16657557 | G | A | 2 | a0001c0001t0001g0101 a0001c0001t0001g0161 |
2 | HG01168.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.1296+9957C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657557 | |||||||
| chrX:16657840 | G | A | 83 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 others(80): Show |
83 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1296+9674C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657840 | |||||||
| chrX:16657874 | T | C | 29 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(26): Show |
29 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(26): Show |
intron_variant | MODIFIER | c.1296+9640A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16657874 | |||||||
| chrX:16658131 | G | A | 1 | a0001c0001t0001g0056 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1296+9383C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658131 | |||||||
| chrX:16658141 | G | A | 1 | a0001c0001t0002g0089 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1296+9373C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658141 | |||||||
| chrX:16658210 | C | CA | 40 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(37): Show |
40 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(37): Show |
intron_variant | MODIFIER | c.1296+9303dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658210 | |||||||
| chrX:16658241 | C | CAAGAAAC others(2): Show |
2 | a0001c0001t0001g0022 a0001c0001t0001g0153 |
2 | HG00639.hp1 HG00639.hp2 |
intron_variant | MODIFIER | c.1296+9264_1296+927 others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658241 | |||||||
| chrX:16658412 | T | C | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1296+9102A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658412 | |||||||
| chrX:16658441 | C | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.1296+9073G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658441 | |||||||
| chrX:16658520 | C | A | 2 | a0001c0001t0002g0011 a0001c0001t0002g0012 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1296+8994G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658520 | |||||||
| chrX:16658871 | A | T | 1 | a0001c0001t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1296+8643T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658871 | |||||||
| chrX:16658951 | T | C | 1 | a0001c0001t0001g0154 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.1296+8563A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658951 | |||||||
| chrX:16658990 | A | T | 2 | a0001c0001t0001g0067 a0001c0001t0001g0130 |
2 | NA18943.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.1296+8524T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16658990 | |||||||
| chrX:16659021 | C | T | 2 | a0001c0001t0001g0213 a0001c0001t0003g0218 |
2 | HG02280.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1296+8493G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659021 | |||||||
| chrX:16659035 | G | A | 4 | a0001c0001t0001g0120 a0001c0002t0002g0016 a0001c0002t0002g0139 others(1): Show |
4 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+8479C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659035 | |||||||
| chrX:16659345 | A | T | 1 | a0001c0001t0002g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296+8169T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659345 | |||||||
| chrX:16659347 | G | C | 1 | a0001c0001t0002g0196 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1296+8167C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659347 | |||||||
| chrX:16659368 | G | A | 4 | a0001c0001t0001g0120 a0001c0002t0002g0016 a0001c0002t0002g0139 others(1): Show |
4 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+8146C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659368 | |||||||
| chrX:16659625 | C | CA | 64 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 others(61): Show |
64 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(61): Show |
intron_variant | MODIFIER | c.1296+7888dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659625 | |||||||
| chrX:16659625 | C | CAA | 20 | a0001c0001t0001g0120 a0001c0001t0002g0005 a0001c0001t0002g0011 others(17): Show |
20 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(17): Show |
intron_variant | MODIFIER | c.1296+7887_1296+788 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659625 | |||||||
| chrX:16659643 | T | C | 12 | a0001c0001t0001g0131 a0001c0001t0001g0214 a0001c0002t0002g0002 others(9): Show |
12 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+7871A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659643 | |||||||
| chrX:16659997 | C | T | 51 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0120 others(48): Show |
51 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1296+7517G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16659997 | |||||||
| chrX:16660184 | C | A | 1 | a0001c0001t0002g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1296+7330G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660184 | |||||||
| chrX:16660207 | T | TTTTC | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+7303_1296+730 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660207 | |||||||
| chrX:16660270 | G | C | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+7244C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660270 | |||||||
| chrX:16660323 | C | A | 3 | a0001c0002t0002g0076 a0001c0002t0002g0215 a0001c0002t0002g0216 |
3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1296+7191G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660323 | |||||||
| chrX:16660345 | G | T | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+7169C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660345 | |||||||
| chrX:16660427 | C | CAG | 83 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 others(80): Show |
83 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(80): Show |
intron_variant | MODIFIER | c.1296+7085_1296+708 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660427 | |||||||
| chrX:16660435 | C | T | 4 | a0001c0001t0002g0018 a0001c0001t0002g0089 a0001c0001t0002g0168 others(1): Show |
4 | HG02165.hp2 HG02698.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+7079G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660435 | |||||||
| chrX:16660569 | T | C | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1296+6945A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660569 | |||||||
| chrX:16660798 | C | T | 2 | a0001c0001t0002g0004 a0001c0001t0002g0074 |
2 | HG02559.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1296+6716G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660798 | |||||||
| chrX:16660961 | A | AT | 5 | a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0176 others(2): Show |
5 | HG02293.hp1 HG02738.hp1 NA18940.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296+6552dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660961 | |||||||
| chrX:16660961 | AT | A | 12 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0025 others(9): Show |
12 | HG00280.hp1 HG01168.hp2 HG01169.hp1 others(9): Show |
intron_variant | MODIFIER | c.1296+6552delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16660961 | |||||||
| chrX:16661020 | C | T | 3 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0126 |
3 | HG00642.hp1 HG01975.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.1296+6494G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661020 | |||||||
| chrX:16661108 | A | G | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+6406T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661108 | |||||||
| chrX:16661324 | A | G | 1 | a0001c0001t0002g0084 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1296+6190T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661324 | |||||||
| chrX:16661443 | T | G | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+6071A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661443 | |||||||
| chrX:16661446 | G | T | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+6068C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661446 | |||||||
| chrX:16661738 | A | G | 1 | a0001c0001t0001g0033 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1296+5776T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661738 | |||||||
| chrX:16661967 | T | C | 1 | a0001c0001t0001g0078 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1296+5547A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661967 | |||||||
| chrX:16661993 | C | CAT | 9 | a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0092 others(6): Show |
9 | HG00642.hp1 HG01975.hp1 HG02015.hp1 others(6): Show |
intron_variant | MODIFIER | c.1296+5519_1296+552 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(13): Show |
1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1296+5520_1296+552 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(15): Show |
1 | a0001c0001t0002g0004 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1296+5520_1296+552 others(26): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(17): Show |
2 | a0001c0002t0002g0087 a0001c0002t0002g0127 |
2 | NA18991.hp1 NA19086.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(28): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(19): Show |
7 | a0001c0001t0001g0046 a0001c0002t0002g0026 a0001c0002t0002g0076 others(4): Show |
7 | HG01975.hp2 HG01978.hp1 HG02293.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(30): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(21): Show |
4 | a0001c0001t0001g0088 a0001c0001t0001g0169 a0001c0001t0001g0171 others(1): Show |
4 | HG00438.hp1 HG01167.hp1 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(32): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(23): Show |
2 | a0001c0001t0001g0170 a0001c0001t0001g0186 |
2 | HG00140.hp1 HG00621.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(34): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(25): Show |
2 | a0001c0001t0001g0203 a0001c0002t0002g0191 |
2 | HG01516.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(36): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(27): Show |
3 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0002t0002g0002 |
3 | NA18945.hp1 NA19060.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(38): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(29): Show |
1 | a0001c0002t0002g0079 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1296+5520_1296+552 others(40): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(33): Show |
2 | a0001c0001t0001g0131 a0001c0003t0002g0138 |
2 | HG01106.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(44): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(35): Show |
2 | a0001c0001t0001g0172 a0001c0001t0002g0128 |
2 | HG02818.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1296+5520_1296+552 others(46): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(3): Show |
3 | a0001c0001t0003g0036 a0001c0001t0007g0164 a0001c0001t0007g0167 |
3 | HG01070.hp1 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1296+5511_1296+552 others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(5): Show |
7 | a0001c0001t0002g0005 a0001c0001t0003g0142 a0001c0001t0003g0143 others(4): Show |
7 | HG00733.hp2 HG01069.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296+5509_1296+552 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | C | CATATATA others(7): Show |
1 | a0001c0001t0003g0178 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1296+5507_1296+552 others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16661993 | CAT | C | 12 | a0001c0001t0001g0120 a0001c0001t0002g0006 a0001c0001t0002g0011 others(9): Show |
12 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1296+5519_1296+552 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16661993 | |||||||
| chrX:16662012 | A | G | 28 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(25): Show |
28 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(25): Show |
intron_variant | MODIFIER | c.1296+5502T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662012 | |||||||
| chrX:16662402 | T | C | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+5112A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662402 | |||||||
| chrX:16662459 | T | C | 1 | a0001c0001t0001g0183 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1296+5055A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662459 | |||||||
| chrX:16662526 | G | C | 1 | a0001c0001t0002g0050 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1296+4988C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662526 | |||||||
| chrX:16662529 | C | T | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+4985G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662529 | |||||||
| chrX:16662698 | CT | C | 69 | a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0042 others(66): Show |
69 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.1296+4815delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662698 | |||||||
| chrX:16662734 | G | A | 9 | a0001c0001t0001g0120 a0001c0001t0002g0011 a0001c0001t0002g0012 others(6): Show |
9 | HG01109.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.1296+4780C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662734 | |||||||
| chrX:16662926 | G | A | 39 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+4588C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662926 | |||||||
| chrX:16662964 | A | G | 3 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0221 |
3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1296+4550T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662964 | |||||||
| chrX:16662971 | A | T | 51 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0120 others(48): Show |
51 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(48): Show |
intron_variant | MODIFIER | c.1296+4543T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16662971 | |||||||
| chrX:16663171 | A | G | 1 | a0001c0001t0005g0043 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1296+4343T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663171 | |||||||
| chrX:16663271 | G | A | 2 | a0001c0001t0002g0004 a0001c0001t0002g0074 |
2 | HG02559.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1296+4243C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663271 | |||||||
| chrX:16663339 | G | A | 2 | a0001c0001t0002g0049 a0001c0001t0002g0219 |
2 | HG00735.hp2 HG01515.hp1 |
intron_variant | MODIFIER | c.1296+4175C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663339 | |||||||
| chrX:16663406 | A | C | 223 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(220): Show |
223 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(220): Show |
intron_variant | MODIFIER | c.1296+4108T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663406 | |||||||
| chrX:16663452 | C | G | 1 | a0001c0001t0002g0084 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1296+4062G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663452 | |||||||
| chrX:16663481 | T | C | 37 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(34): Show |
37 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.1296+4033A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663481 | |||||||
| chrX:16663501 | T | C | 37 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(34): Show |
37 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.1296+4013A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663501 | |||||||
| chrX:16663511 | A | C | 37 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0131 others(34): Show |
37 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(34): Show |
intron_variant | MODIFIER | c.1296+4003T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663511 | |||||||
| chrX:16663645 | C | T | 49 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0120 others(46): Show |
49 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.1296+3869G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663645 | |||||||
| chrX:16663889 | A | G | 44 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0129 others(41): Show |
44 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(41): Show |
intron_variant | MODIFIER | c.1296+3625T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663889 | |||||||
| chrX:16663899 | A | C | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1296+3615T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663899 | |||||||
| chrX:16663904 | C | T | 9 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(6): Show |
9 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1296+3610G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663904 | |||||||
| chrX:16663960 | C | T | 1 | a0001c0002t0002g0076 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1296+3554G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663960 | |||||||
| chrX:16663982 | C | T | 2 | a0001c0001t0001g0145 a0001c0001t0001g0147 |
2 | NA18965.hp1 NA19000.hp1 |
intron_variant | MODIFIER | c.1296+3532G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663982 | |||||||
| chrX:16663983 | G | C | 14 | a0001c0001t0001g0053 a0001c0001t0001g0213 a0001c0001t0002g0005 others(11): Show |
14 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(11): Show |
intron_variant | MODIFIER | c.1296+3531C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663983 | |||||||
| chrX:16663984 | T | C | 13 | a0001c0001t0001g0053 a0001c0001t0001g0213 a0001c0001t0002g0005 others(10): Show |
13 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
intron_variant | MODIFIER | c.1296+3530A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663984 | |||||||
| chrX:16663985 | G | A | 1 | a0001c0001t0001g0053 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1296+3529C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663985 | |||||||
| chrX:16663992 | C | T | 32 | a0001c0001t0001g0046 a0001c0001t0001g0088 a0001c0001t0001g0093 others(29): Show |
32 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(29): Show |
intron_variant | MODIFIER | c.1296+3522G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663992 | |||||||
| chrX:16663996 | C | T | 82 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0088 others(79): Show |
82 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(79): Show |
intron_variant | MODIFIER | c.1296+3518G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663996 | |||||||
| chrX:16663997 | A | G | 94 | a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0046 others(91): Show |
94 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.1296+3517T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16663997 | |||||||
| chrX:16664027 | A | G | 39 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0088 others(36): Show |
39 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(36): Show |
intron_variant | MODIFIER | c.1296+3487T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664027 | |||||||
| chrX:16664028 | A | G | 2 | a0001c0001t0002g0128 a0001c0003t0002g0138 |
2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1296+3486T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664028 | |||||||
| chrX:16664029 | A | G | 2 | a0001c0001t0002g0128 a0001c0003t0002g0138 |
2 | HG01106.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1296+3485T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664029 | |||||||
| chrX:16664038 | A | G | 2 | a0001c0002t0002g0200 a0001c0002t0002g0217 |
2 | HG02615.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1296+3476T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664038 | |||||||
| chrX:16664043 | A | G | 5 | a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0003g0218 others(2): Show |
5 | HG02027.hp1 HG02280.hp2 NA19043.hp1 others(2): Show |
intron_variant | MODIFIER | c.1296+3471T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664043 | |||||||
| chrX:16664057 | T | C | 1 | a0001c0001t0001g0204 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.1296+3457A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664057 | |||||||
| chrX:16664078 | T | C | 21 | a0001c0001t0001g0042 a0001c0001t0001g0162 a0001c0001t0002g0040 others(18): Show |
21 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(18): Show |
intron_variant | MODIFIER | c.1296+3436A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664078 | |||||||
| chrX:16664104 | G | C | 20 | a0001c0001t0001g0107 a0001c0001t0002g0040 a0001c0001t0002g0045 others(17): Show |
20 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(17): Show |
intron_variant | MODIFIER | c.1296+3410C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664104 | |||||||
| chrX:16664116 | A | G | 1 | a0001c0001t0003g0036 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.1296+3398T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664116 | |||||||
| chrX:16664131 | C | T | 1 | a0001c0001t0002g0040 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1296+3383G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664131 | |||||||
| chrX:16664168 | A | C | 1 | a0001c0001t0002g0072 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1296+3346T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664168 | |||||||
| chrX:16664294 | C | T | 15 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 others(12): Show |
15 | HG01934.hp1 HG01975.hp2 HG01978.hp1 others(12): Show |
intron_variant | MODIFIER | c.1296+3220G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664294 | |||||||
| chrX:16664480 | G | A | 2 | a0001c0001t0002g0163 a0001c0001t0002g0201 |
2 | HG03041.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1296+3034C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664480 | |||||||
| chrX:16664488 | A | T | 1 | a0001c0001t0002g0137 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1296+3026T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664488 | |||||||
| chrX:16664511 | G | A | 71 | a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0042 others(68): Show |
71 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(68): Show |
intron_variant | MODIFIER | c.1296+3003C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664511 | |||||||
| chrX:16664539 | T | C | 75 | a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0042 others(72): Show |
75 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.1296+2975A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664539 | |||||||
| chrX:16664692 | G | C | 6 | a0001c0001t0001g0120 a0001c0002t0002g0016 a0001c0002t0002g0073 others(3): Show |
6 | HG01109.hp1 HG02258.hp1 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.1296+2822C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16664692 | |||||||
| chrX:16665337 | G | A | 1 | a0001c0001t0001g0150 | 1 | NA19065.hp1 | intron_variant | MODIFIER | c.1296+2177C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665337 | |||||||
| chrX:16665648 | G | A | 3 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0221 |
3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1296+1866C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665648 | |||||||
| chrX:16665803 | T | A | 1 | a0001c0001t0001g0148 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1296+1711A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665803 | |||||||
| chrX:16665904 | G | C | 68 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(65): Show |
68 | HG00280.hp1 HG00609.hp1 HG00735.hp1 others(65): Show |
intron_variant | MODIFIER | c.1296+1610C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16665904 | |||||||
| chrX:16666140 | G | A | 7 | a0001c0001t0001g0081 a0001c0001t0004g0019 a0001c0001t0004g0020 others(4): Show |
7 | HG02486.hp1 HG02717.hp1 HG02809.hp2 others(4): Show |
intron_variant | MODIFIER | c.1296+1374C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16666140 | |||||||
| chrX:16666482 | G | A | 3 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0221 |
3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1296+1032C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16666482 | |||||||
| chrX:16666739 | G | A | 64 | a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0046 others(61): Show |
64 | HG00609.hp1 HG00733.hp2 HG00735.hp1 others(61): Show |
intron_variant | MODIFIER | c.1296+775C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16666739 | |||||||
| chrX:16667042 | T | C | 11 | a0001c0001t0002g0005 a0001c0001t0003g0036 a0001c0001t0003g0142 others(8): Show |
11 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(8): Show |
intron_variant | MODIFIER | c.1296+472A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667042 | |||||||
| chrX:16667134 | C | G | 1 | a0001c0001t0002g0168 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1296+380G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667134 | |||||||
| chrX:16667135 | G | C | 1 | a0001c0001t0002g0168 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1296+379C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667135 | |||||||
| chrX:16667137 | C | CT | 46 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 others(43): Show |
46 | HG00280.hp1 HG00609.hp1 HG00735.hp1 others(43): Show |
intron_variant | MODIFIER | c.1296+376dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667137 | |||||||
| chrX:16667137 | C | T | 1 | a0001c0001t0002g0168 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1296+377G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667137 | |||||||
| chrX:16667189 | G | A | 1 | a0001c0001t0002g0074 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1296+325C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667189 | |||||||
| chrX:16667197 | A | G | 1 | a0001c0001t0001g0122 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1296+317T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667197 | |||||||
| chrX:16667268 | T | G | 106 | a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0042 others(103): Show |
106 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(103): Show |
intron_variant | MODIFIER | c.1296+246A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | 16667268 | |||||||
| chrX:16667572 | A | C | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1253-15T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 12/18 | chrX | 16667572 | |||||||
| chrX:16667630 | A | C | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1252+32T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 12/18 | chrX | 16667630 | |||||||
| chrX:16668005 | G | A | 3 | a0001c0002t0002g0076 a0001c0002t0002g0215 a0001c0002t0002g0216 |
3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.1190-281C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668005 | |||||||
| chrX:16668144 | C | G | 1 | a0001c0001t0001g0088 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1190-420G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668144 | |||||||
| chrX:16668176 | T | C | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-452A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668176 | |||||||
| chrX:16668187 | G | A | 9 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(6): Show |
9 | HG01070.hp2 HG02055.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1190-463C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668187 | |||||||
| chrX:16668227 | G | A | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-503C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668227 | |||||||
| chrX:16668356 | C | T | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-632G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668356 | |||||||
| chrX:16668574 | G | C | 38 | a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0088 others(35): Show |
38 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(35): Show |
intron_variant | MODIFIER | c.1190-850C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668574 | |||||||
| chrX:16668618 | GAGGGAAG others(9): Show |
G | 4 | a0001c0001t0001g0213 a0001c0001t0002g0128 a0001c0001t0003g0218 others(1): Show |
4 | HG01106.hp1 HG02280.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1190-910_1190-895d others(18): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668618 | |||||||
| chrX:16668651 | TGGAA | T | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-931_1190-928d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668651 | |||||||
| chrX:16668715 | G | C | 2 | a0001c0001t0001g0066 a0001c0001t0001g0106 |
2 | HG00738.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1190-991C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668715 | |||||||
| chrX:16668770 | A | AAAGG | 43 | a0001c0001t0001g0007 a0001c0001t0001g0052 a0001c0001t0001g0053 others(40): Show |
43 | HG00438.hp2 HG00621.hp1 HG01928.hp1 others(40): Show |
intron_variant | MODIFIER | c.1190-1050_1190-104 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | A | AAAGGAAG others(1): Show |
19 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0088 others(16): Show |
19 | HG00140.hp1 HG00438.hp1 HG01070.hp2 others(16): Show |
intron_variant | MODIFIER | c.1190-1054_1190-104 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | A | AAAGGAAG others(5): Show |
4 | a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0002g0075 others(1): Show |
4 | HG01167.hp1 HG01169.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1190-1058_1190-104 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | A | AAAGGAAG others(9): Show |
1 | a0001c0001t0001g0214 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1190-1062_1190-104 others(20): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | A | AAAGGAAG others(13): Show |
1 | a0001c0001t0001g0120 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1190-1066_1190-104 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | AAAGG | A | 38 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0033 others(35): Show |
38 | HG00639.hp1 HG00733.hp1 HG00733.hp2 others(35): Show |
intron_variant | MODIFIER | c.1190-1050_1190-104 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | AAAGGAAG others(1): Show |
A | 9 | a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0001g0145 others(6): Show |
9 | HG01168.hp1 HG01255.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1190-1054_1190-104 others(12): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16668770 | AAAGGAAG others(5): Show |
A | 3 | a0001c0001t0002g0072 a0001c0001t0002g0137 a0001c0001t0002g0221 |
3 | HG02280.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1190-1058_1190-104 others(16): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16668770 | |||||||
| chrX:16669096 | G | T | 3 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 |
3 | HG03098.hp1 HG03486.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1190-1372C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669096 | |||||||
| chrX:16669166 | C | T | 13 | a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0132 others(10): Show |
13 | HG00140.hp1 HG00438.hp1 HG00621.hp1 others(10): Show |
intron_variant | MODIFIER | c.1189+1414G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669166 | |||||||
| chrX:16669179 | C | T | 1 | a0001c0001t0005g0044 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.1189+1401G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669179 | |||||||
| chrX:16669250 | C | T | 1 | a0001c0001t0001g0046 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1189+1330G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669250 | |||||||
| chrX:16669365 | A | C | 1 | a0001c0002t0002g0215 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1189+1215T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669365 | |||||||
| chrX:16669425 | T | TG | 6 | a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0114 others(3): Show |
6 | HG00438.hp1 HG02738.hp1 HG04204.hp1 others(3): Show |
intron_variant | MODIFIER | c.1189+1154dupC | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669425 | |||||||
| chrX:16669435 | G | A | 1 | a0001c0001t0001g0003 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.1189+1145C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669435 | |||||||
| chrX:16669455 | G | T | 12 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(9): Show |
12 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.1189+1125C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669455 | |||||||
| chrX:16669573 | CA | C | 28 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 others(25): Show |
28 | HG00609.hp1 HG00735.hp1 HG00735.hp2 others(25): Show |
intron_variant | MODIFIER | c.1189+1006delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669573 | |||||||
| chrX:16669618 | A | G | 5 | a0001c0001t0002g0006 a0001c0001t0008g0180 a0001c0001t0008g0207 others(2): Show |
5 | HG02630.hp2 HG03098.hp1 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.1189+962T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669618 | |||||||
| chrX:16669637 | A | T | 1 | a0001c0001t0001g0125 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1189+943T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669637 | |||||||
| chrX:16669640 | A | T | 1 | a0001c0001t0002g0089 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.1189+940T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669640 | |||||||
| chrX:16669899 | G | A | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1189+681C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16669899 | |||||||
| chrX:16670059 | T | TA | 130 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(127): Show |
130 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.1189+520dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670059 | |||||||
| chrX:16670305 | C | T | 1 | a0001c0001t0005g0059 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1189+275G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670305 | |||||||
| chrX:16670343 | G | A | 41 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(38): Show |
41 | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(38): Show |
intron_variant | MODIFIER | c.1189+237C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670343 | |||||||
| chrX:16670429 | T | C | 3 | a0001c0001t0002g0004 a0001c0001t0002g0074 a0001c0002t0002g0139 |
3 | HG02559.hp1 HG03209.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1189+151A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 11/18 | chrX | 16670429 | |||||||
| chrX:16670713 | A | AT | 11 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(8): Show |
11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-40dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16670713 | |||||||
| chrX:16670979 | A | G | 36 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(33): Show |
36 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.1095-305T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16670979 | |||||||
| chrX:16671505 | C | CT | 13 | a0001c0001t0001g0066 a0001c0001t0001g0123 a0001c0001t0001g0126 others(10): Show |
13 | HG00438.hp2 HG00642.hp1 HG00738.hp1 others(10): Show |
intron_variant | MODIFIER | c.1095-832dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | |||||||
| chrX:16671505 | CT | C | 51 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0033 others(48): Show |
51 | HG00140.hp1 HG00609.hp1 HG00733.hp2 others(48): Show |
intron_variant | MODIFIER | c.1095-832delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | |||||||
| chrX:16671505 | CTT | C | 45 | a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0129 others(42): Show |
45 | HG00621.hp1 HG01070.hp1 HG01167.hp1 others(42): Show |
intron_variant | MODIFIER | c.1095-833_1095-832d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | |||||||
| chrX:16671505 | CTTTTTTT | C | 35 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(32): Show |
35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-838_1095-832d others(9): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671505 | |||||||
| chrX:16671564 | G | T | 36 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(33): Show |
36 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(33): Show |
intron_variant | MODIFIER | c.1095-890C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671564 | |||||||
| chrX:16671668 | C | A | 24 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(21): Show |
24 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.1095-994G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671668 | |||||||
| chrX:16671818 | A | G | 1 | a0001c0001t0002g0197 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1095-1144T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671818 | |||||||
| chrX:16671885 | G | A | 131 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(128): Show |
131 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.1095-1211C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16671885 | |||||||
| chrX:16672742 | G | A | 2 | a0001c0001t0002g0011 a0001c0001t0002g0012 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1095-2068C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672742 | |||||||
| chrX:16672881 | C | CT | 16 | a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0148 others(13): Show |
16 | HG00621.hp1 HG01168.hp2 HG01361.hp1 others(13): Show |
intron_variant | MODIFIER | c.1095-2208dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | |||||||
| chrX:16672881 | C | CTT | 20 | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0025 others(17): Show |
20 | HG00280.hp1 HG00639.hp1 HG01169.hp1 others(17): Show |
intron_variant | MODIFIER | c.1095-2209_1095-220 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | |||||||
| chrX:16672881 | C | CTTT | 13 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0031 others(10): Show |
13 | HG01070.hp2 HG01099.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1095-2210_1095-220 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | |||||||
| chrX:16672881 | CT | C | 9 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0056 others(6): Show |
9 | HG02523.hp1 HG02683.hp1 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.1095-2208delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | |||||||
| chrX:16672881 | CTTTTTTT others(3): Show |
C | 2 | a0001c0002t0002g0073 a0001c0002t0002g0220 |
2 | HG02630.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1095-2217_1095-220 others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672881 | |||||||
| chrX:16672918 | G | A | 1 | a0001c0001t0014g0226 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1095-2244C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672918 | |||||||
| chrX:16672925 | C | T | 35 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(32): Show |
35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-2251G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672925 | |||||||
| chrX:16672977 | C | T | 35 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(32): Show |
35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-2303G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672977 | |||||||
| chrX:16672987 | T | C | 35 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(32): Show |
35 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1095-2313A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16672987 | |||||||
| chrX:16673041 | T | C | 37 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0042 others(34): Show |
37 | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1095-2367A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673041 | |||||||
| chrX:16673047 | C | G | 37 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0042 others(34): Show |
37 | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(34): Show |
intron_variant | MODIFIER | c.1095-2373G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673047 | |||||||
| chrX:16673076 | C | T | 1 | a0001c0001t0001g0162 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1095-2402G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673076 | |||||||
| chrX:16673088 | G | A | 11 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(8): Show |
11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-2414C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673088 | |||||||
| chrX:16673096 | C | T | 1 | a0001c0001t0001g0186 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1095-2422G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673096 | |||||||
| chrX:16673100 | A | T | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1095-2426T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673100 | |||||||
| chrX:16673161 | C | T | 1 | a0001c0001t0001g0205 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1095-2487G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673161 | |||||||
| chrX:16673167 | T | G | 1 | a0001c0001t0001g0010 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1095-2493A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673167 | |||||||
| chrX:16673352 | CTG | C | 4 | a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0083 others(1): Show |
4 | HG00639.hp1 HG01099.hp1 NA19006.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095-2680_1095-267 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673352 | |||||||
| chrX:16673357 | GAAAAACT others(30): Show |
G | 4 | a0001c0001t0001g0022 a0001c0001t0001g0082 a0001c0001t0001g0083 others(1): Show |
4 | HG00639.hp1 HG01099.hp1 NA19006.hp1 others(1): Show |
intron_variant | MODIFIER | c.1095-2720_1095-268 others(41): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673357 | |||||||
| chrX:16673432 | C | T | 34 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(31): Show |
34 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(31): Show |
intron_variant | MODIFIER | c.1095-2758G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673432 | |||||||
| chrX:16673570 | T | A | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1095-2896A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673570 | |||||||
| chrX:16673584 | T | TA | 6 | a0001c0001t0001g0056 a0001c0001t0001g0158 a0001c0001t0002g0004 others(3): Show |
6 | HG02559.hp1 HG02886.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.1095-2911dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673584 | |||||||
| chrX:16673584 | TA | T | 14 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0130 others(11): Show |
14 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.1095-2911delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673584 | |||||||
| chrX:16673622 | G | C | 11 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(8): Show |
11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-2948C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673622 | |||||||
| chrX:16673753 | G | C | 11 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(8): Show |
11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1095-3079C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673753 | |||||||
| chrX:16673945 | G | A | 29 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(26): Show |
29 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(26): Show |
intron_variant | MODIFIER | c.1095-3271C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16673945 | |||||||
| chrX:16674115 | A | ATT | 87 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0042 others(84): Show |
87 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(84): Show |
intron_variant | MODIFIER | c.1095-3443_1095-344 others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | |||||||
| chrX:16674115 | A | ATTT | 8 | a0001c0001t0001g0131 a0001c0001t0001g0213 a0001c0001t0002g0035 others(5): Show |
8 | HG01261.hp1 HG02004.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.1095-3444_1095-344 others(7): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | |||||||
| chrX:16674115 | A | ATTTT | 8 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(5): Show |
8 | HG01070.hp2 HG02055.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.1095-3445_1095-344 others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674115 | |||||||
| chrX:16674274 | C | T | 1 | a0001c0001t0001g0060 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1095-3600G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674274 | |||||||
| chrX:16674453 | G | A | 1 | a0001c0001t0001g0148 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.1095-3779C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674453 | |||||||
| chrX:16674499 | A | T | 3 | a0001c0001t0001g0120 a0001c0001t0002g0072 a0001c0001t0002g0221 |
3 | HG02258.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1095-3825T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674499 | |||||||
| chrX:16674565 | A | G | 1 | a0001c0002t0002g0087 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.1094+3797T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674565 | |||||||
| chrX:16674577 | A | G | 4 | a0001c0001t0002g0005 a0001c0001t0002g0075 a0001c0001t0004g0032 others(1): Show |
4 | HG02615.hp2 HG02886.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.1094+3785T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674577 | |||||||
| chrX:16674605 | A | G | 8 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(5): Show |
8 | HG01070.hp2 HG02055.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.1094+3757T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674605 | |||||||
| chrX:16674609 | T | C | 142 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(139): Show |
142 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(139): Show |
intron_variant | MODIFIER | c.1094+3753A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674609 | |||||||
| chrX:16674613 | C | T | 8 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(5): Show |
8 | HG01070.hp2 HG02055.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1094+3749G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674613 | |||||||
| chrX:16674614 | A | G | 142 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(139): Show |
142 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(139): Show |
intron_variant | MODIFIER | c.1094+3748T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674614 | |||||||
| chrX:16674620 | C | T | 31 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(28): Show |
31 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(28): Show |
intron_variant | MODIFIER | c.1094+3742G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674620 | |||||||
| chrX:16674621 | G | A | 4 | a0001c0001t0001g0120 a0001c0001t0002g0072 a0001c0001t0002g0075 others(1): Show |
4 | HG02258.hp1 HG02615.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1094+3741C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674621 | |||||||
| chrX:16674634 | C | G | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1094+3728G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674634 | |||||||
| chrX:16674639 | C | G | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1094+3723G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674639 | |||||||
| chrX:16674642 | T | G | 1 | a0001c0001t0001g0088 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1094+3720A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674642 | |||||||
| chrX:16674649 | T | C | 2 | a0001c0001t0001g0088 a0001c0001t0002g0005 |
2 | HG00438.hp1 HG02886.hp2 |
intron_variant | MODIFIER | c.1094+3713A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674649 | |||||||
| chrX:16674654 | C | T | 2 | a0001c0001t0001g0088 a0001c0001t0001g0154 |
2 | HG00438.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.1094+3708G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674654 | |||||||
| chrX:16674699 | G | A | 1 | a0001c0001t0004g0028 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1094+3663C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674699 | |||||||
| chrX:16674700 | T | A | 1 | a0001c0001t0001g0140 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1094+3662A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674700 | |||||||
| chrX:16674707 | A | G | 5 | a0001c0001t0001g0120 a0001c0001t0001g0210 a0001c0001t0002g0072 others(2): Show |
5 | HG02027.hp1 HG02258.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.1094+3655T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674707 | |||||||
| chrX:16674731 | G | A | 3 | a0001c0001t0001g0120 a0001c0001t0002g0072 a0001c0001t0002g0221 |
3 | HG02258.hp1 HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3631C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674731 | |||||||
| chrX:16674753 | A | G | 5 | a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0186 others(2): Show |
5 | HG00621.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1094+3609T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674753 | |||||||
| chrX:16674755 | A | G | 2 | a0001c0001t0001g0140 a0001c0001t0001g0186 |
2 | HG00621.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.1094+3607T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674755 | |||||||
| chrX:16674763 | A | G | 5 | a0001c0001t0001g0120 a0001c0001t0001g0186 a0001c0001t0002g0072 others(2): Show |
5 | HG00621.hp1 HG02258.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.1094+3599T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674763 | |||||||
| chrX:16674770 | A | G | 2 | a0001c0001t0001g0140 a0001c0001t0001g0186 |
2 | HG00621.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.1094+3592T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674770 | |||||||
| chrX:16674786 | A | C | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1094+3576T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674786 | |||||||
| chrX:16674792 | T | C | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1094+3570A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674792 | |||||||
| chrX:16674798 | A | G | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1094+3564T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674798 | |||||||
| chrX:16674837 | C | CA | 9 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(6): Show |
9 | HG01070.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.1094+3524dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16674837 | |||||||
| chrX:16675064 | G | A | 11 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0002g0009 others(8): Show |
11 | HG01070.hp2 HG02055.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1094+3298C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675064 | |||||||
| chrX:16675137 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1094+3225C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675137 | |||||||
| chrX:16675155 | C | G | 1 | a0001c0001t0001g0056 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1094+3207G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675155 | |||||||
| chrX:16675269 | C | CA | 93 | a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0046 others(90): Show |
93 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.1094+3092dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675269 | |||||||
| chrX:16675324 | T | A | 2 | a0001c0001t0002g0072 a0001c0001t0002g0221 |
2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3038A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675324 | |||||||
| chrX:16675327 | T | A | 2 | a0001c0001t0002g0072 a0001c0001t0002g0221 |
2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+3035A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675327 | |||||||
| chrX:16675562 | G | A | 1 | a0001c0001t0002g0168 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1094+2800C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675562 | |||||||
| chrX:16675765 | T | C | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1094+2597A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16675765 | |||||||
| chrX:16676167 | G | A | 1 | a0001c0001t0002g0084 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.1094+2195C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676167 | |||||||
| chrX:16676292 | C | T | 2 | a0001c0002t0002g0073 a0001c0002t0002g0220 |
2 | HG02630.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.1094+2070G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676292 | |||||||
| chrX:16676703 | C | A | 128 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(125): Show |
128 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(125): Show |
intron_variant | MODIFIER | c.1094+1659G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676703 | |||||||
| chrX:16676788 | G | A | 1 | a0001c0001t0002g0074 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1094+1574C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16676788 | |||||||
| chrX:16677060 | G | GA | 5 | a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0145 others(2): Show |
5 | HG01361.hp2 HG02683.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.1094+1301dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677060 | |||||||
| chrX:16677060 | GA | G | 127 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(124): Show |
127 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(124): Show |
intron_variant | MODIFIER | c.1094+1301delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677060 | |||||||
| chrX:16677106 | G | A | 1 | a0001c0002t0002g0076 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1094+1256C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677106 | |||||||
| chrX:16677380 | C | T | 32 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(29): Show |
32 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(29): Show |
intron_variant | MODIFIER | c.1094+982G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677380 | |||||||
| chrX:16677448 | CT | C | 2 | a0001c0001t0002g0072 a0001c0001t0002g0221 |
2 | HG02630.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1094+913delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677448 | |||||||
| chrX:16677882 | G | A | 140 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(137): Show |
140 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(137): Show |
intron_variant | MODIFIER | c.1094+480C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677882 | |||||||
| chrX:16677994 | G | T | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.1094+368C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | 16677994 | |||||||
| chrX:16678717 | G | T | 2 | a0001c0001t0002g0045 a0001c0001t0002g0086 |
2 | HG01261.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.1006-267C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16678717 | |||||||
| chrX:16678787 | A | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-337T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16678787 | |||||||
| chrX:16679060 | T | C | 129 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(126): Show |
129 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(126): Show |
intron_variant | MODIFIER | c.1006-610A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679060 | |||||||
| chrX:16679173 | C | T | 1 | a0001c0001t0001g0070 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1006-723G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679173 | |||||||
| chrX:16679250 | C | T | 3 | a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0208 |
3 | HG01243.hp1 HG02886.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.1006-800G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679250 | |||||||
| chrX:16679338 | A | C | 7 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(4): Show |
7 | HG01070.hp2 HG02055.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.1006-888T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679338 | |||||||
| chrX:16679386 | A | T | 95 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0042 others(92): Show |
95 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.1006-936T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679386 | |||||||
| chrX:16679629 | C | T | 2 | a0001c0002t0002g0002 a0001c0002t0002g0079 |
2 | NA18975.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.1006-1179G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679629 | |||||||
| chrX:16679684 | A | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-1234T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679684 | |||||||
| chrX:16679706 | A | C | 96 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0042 others(93): Show |
96 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(93): Show |
intron_variant | MODIFIER | c.1006-1256T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679706 | |||||||
| chrX:16679714 | C | T | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-1264G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679714 | |||||||
| chrX:16679753 | C | T | 1 | a0001c0001t0001g0058 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1006-1303G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679753 | |||||||
| chrX:16679754 | G | A | 1 | a0001c0001t0001g0135 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.1006-1304C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679754 | |||||||
| chrX:16679967 | C | T | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-1517G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16679967 | |||||||
| chrX:16680230 | C | T | 1 | a0001c0001t0002g0035 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1006-1780G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680230 | |||||||
| chrX:16680244 | G | C | 1 | a0001c0001t0002g0035 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1006-1794C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680244 | |||||||
| chrX:16680343 | A | G | 1 | a0001c0001t0001g0024 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1006-1893T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680343 | |||||||
| chrX:16680542 | G | A | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-2092C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680542 | |||||||
| chrX:16680700 | C | T | 1 | a0001c0001t0002g0090 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1006-2250G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680700 | |||||||
| chrX:16680711 | A | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1006-2261T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680711 | |||||||
| chrX:16680923 | C | T | 1 | a0001c0001t0001g0205 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1005+2171G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16680923 | |||||||
| chrX:16681130 | G | A | 4 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(1): Show |
4 | HG02559.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1005+1964C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681130 | |||||||
| chrX:16681427 | T | C | 38 | a0001c0001t0001g0039 a0001c0001t0001g0091 a0001c0001t0001g0092 others(35): Show |
38 | HG00438.hp2 HG00642.hp1 HG00673.hp1 others(35): Show |
intron_variant | MODIFIER | c.1005+1667A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681427 | |||||||
| chrX:16681690 | C | T | 1 | a0001c0001t0001g0114 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1005+1404G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681690 | |||||||
| chrX:16681861 | A | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+1233T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681861 | |||||||
| chrX:16681964 | C | T | 4 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(1): Show |
4 | HG02559.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1005+1130G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16681964 | |||||||
| chrX:16682005 | T | A | 129 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(126): Show |
129 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(126): Show |
intron_variant | MODIFIER | c.1005+1089A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682005 | |||||||
| chrX:16682102 | C | T | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+992G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682102 | |||||||
| chrX:16682211 | A | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+883T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682211 | |||||||
| chrX:16682426 | G | A | 1 | a0001c0001t0002g0195 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1005+668C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682426 | |||||||
| chrX:16682449 | C | A | 1 | a0001c0001t0001g0131 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1005+645G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682449 | |||||||
| chrX:16682452 | A | T | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+642T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682452 | |||||||
| chrX:16682456 | A | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+638T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682456 | |||||||
| chrX:16682465 | G | A | 24 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(21): Show |
24 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(21): Show |
intron_variant | MODIFIER | c.1005+629C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682465 | |||||||
| chrX:16682560 | A | C | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+534T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682560 | |||||||
| chrX:16682906 | C | G | 2 | a0001c0001t0002g0040 a0001c0001t0002g0085 |
2 | HG02145.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1005+188G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682906 | |||||||
| chrX:16682969 | GTTC | G | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1005+122_1005+124d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 9/18 | chrX | 16682969 | |||||||
| chrX:16683421 | GACCCCGT others(6): Show |
G | 1 | a0001c0001t0001g0204 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-208_873-196del others(13): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683421 | |||||||
| chrX:16683530 | C | T | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.873-304G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683530 | |||||||
| chrX:16683642 | A | G | 129 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 others(126): Show |
129 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(126): Show |
intron_variant | MODIFIER | c.873-416T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16683642 | |||||||
| chrX:16684005 | G | A | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.873-779C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684005 | |||||||
| chrX:16684504 | G | A | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.873-1278C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684504 | |||||||
| chrX:16684509 | C | CA | 45 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(42): Show |
45 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(42): Show |
intron_variant | MODIFIER | c.873-1284dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684509 | |||||||
| chrX:16684509 | C | CAA | 7 | a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0147 others(4): Show |
7 | HG00738.hp1 HG02293.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.873-1285_873-1284d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684509 | |||||||
| chrX:16684523 | A | C | 94 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0042 others(91): Show |
94 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.873-1297T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684523 | |||||||
| chrX:16684529 | C | A | 4 | a0001c0001t0001g0176 a0001c0001t0002g0034 a0001c0001t0002g0175 others(1): Show |
4 | HG03195.hp2 NA18969.hp2 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.873-1303G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684529 | |||||||
| chrX:16684574 | A | T | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.873-1348T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684574 | |||||||
| chrX:16684609 | A | C | 95 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0042 others(92): Show |
95 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.873-1383T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684609 | |||||||
| chrX:16684817 | G | A | 1 | a0001c0001t0001g0015 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.873-1591C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684817 | |||||||
| chrX:16684861 | C | CCGGCAGA others(28): Show |
1 | a0001c0001t0001g0204 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.873-1670_873-1636d others(37): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684861 | |||||||
| chrX:16684909 | G | A | 1 | a0001c0001t0001g0078 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.873-1683C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16684909 | |||||||
| chrX:16685109 | C | T | 1 | a0001c0002t0002g0220 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.873-1883G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685109 | |||||||
| chrX:16685292 | T | G | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.873-2066A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685292 | |||||||
| chrX:16685410 | G | A | 1 | a0001c0002t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.873-2184C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685410 | |||||||
| chrX:16685417 | C | T | 1 | a0001c0002t0002g0151 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.873-2191G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685417 | |||||||
| chrX:16685468 | C | T | 1 | a0001c0001t0001g0068 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.873-2242G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685468 | |||||||
| chrX:16685576 | G | A | 1 | a0001c0001t0005g0044 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.873-2350C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685576 | |||||||
| chrX:16685596 | T | C | 103 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0033 others(100): Show |
103 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.873-2370A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685596 | |||||||
| chrX:16685640 | C | T | 1 | a0001c0001t0001g0081 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.873-2414G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685640 | |||||||
| chrX:16685674 | T | C | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.873-2448A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685674 | |||||||
| chrX:16685735 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.873-2509A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685735 | |||||||
| chrX:16685736 | G | A | 4 | a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0116 others(1): Show |
4 | HG01358.hp1 NA18962.hp1 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.873-2510C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685736 | |||||||
| chrX:16685774 | G | T | 7 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(4): Show |
7 | HG01070.hp2 HG02055.hp1 HG02965.hp1 others(4): Show |
intron_variant | MODIFIER | c.873-2548C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685774 | |||||||
| chrX:16685784 | A | G | 1 | a0001c0001t0001g0008 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.873-2558T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685784 | |||||||
| chrX:16685837 | A | G | 1 | a0001c0001t0001g0135 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.873-2611T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685837 | |||||||
| chrX:16685867 | C | CA | 17 | a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0078 others(14): Show |
17 | HG01516.hp1 HG01928.hp1 HG02004.hp1 others(14): Show |
intron_variant | MODIFIER | c.873-2642dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685867 | |||||||
| chrX:16685867 | CA | C | 7 | a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0161 others(4): Show |
7 | HG01168.hp1 HG02818.hp2 NA18982.hp1 others(4): Show |
intron_variant | MODIFIER | c.873-2642delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685867 | |||||||
| chrX:16685980 | C | T | 8 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(5): Show |
8 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.873-2754G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16685980 | |||||||
| chrX:16686263 | G | C | 5 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.873-3037C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686263 | |||||||
| chrX:16686412 | GC | G | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.872+3037delG | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686412 | |||||||
| chrX:16686455 | C | A | 1 | a0001c0002t0002g0139 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.872+2995G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686455 | |||||||
| chrX:16686778 | C | T | 1 | a0001c0001t0005g0059 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.872+2672G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686778 | |||||||
| chrX:16686913 | A | T | 10 | a0001c0001t0001g0047 a0001c0001t0001g0096 a0001c0001t0001g0103 others(7): Show |
10 | HG01346.hp1 NA18940.hp1 NA18959.hp1 others(7): Show |
intron_variant | MODIFIER | c.872+2537T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16686913 | |||||||
| chrX:16687474 | C | CA | 99 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0033 others(96): Show |
99 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(96): Show |
intron_variant | MODIFIER | c.872+1975dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687474 | |||||||
| chrX:16687474 | CA | C | 5 | a0001c0001t0001g0017 a0001c0001t0001g0160 a0001c0001t0002g0004 others(2): Show |
5 | HG01168.hp2 HG02040.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.872+1975delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687474 | |||||||
| chrX:16687491 | A | G | 3 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0002t0012g0051 |
3 | HG02451.hp2 HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.872+1959T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687491 | |||||||
| chrX:16687562 | G | T | 1 | a0001c0001t0002g0221 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.872+1888C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687562 | |||||||
| chrX:16687727 | T | C | 2 | a0001c0001t0004g0027 a0001c0001t0004g0028 |
2 | HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.872+1723A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16687727 | |||||||
| chrX:16688065 | C | T | 2 | a0001c0001t0008g0180 a0001c0001t0008g0207 |
2 | HG03098.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.872+1385G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688065 | |||||||
| chrX:16688103 | T | C | 1 | a0001c0001t0001g0162 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.872+1347A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688103 | |||||||
| chrX:16688145 | C | T | 1 | a0001c0001t0005g0044 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.872+1305G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688145 | |||||||
| chrX:16688227 | C | T | 1 | a0001c0001t0001g0101 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.872+1223G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688227 | |||||||
| chrX:16688272 | C | T | 3 | a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0208 |
3 | HG01243.hp1 HG02886.hp1 HG02922.hp2 |
intron_variant | MODIFIER | c.872+1178G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688272 | |||||||
| chrX:16688378 | C | T | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.872+1072G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688378 | |||||||
| chrX:16688379 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.872+1071C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688379 | |||||||
| chrX:16688399 | C | CA | 5 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(2): Show |
5 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+1050dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688399 | |||||||
| chrX:16688437 | C | CT | 46 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 others(43): Show |
46 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(43): Show |
intron_variant | MODIFIER | c.872+1012dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688437 | |||||||
| chrX:16688627 | G | A | 5 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(2): Show |
5 | HG01070.hp2 HG02965.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+823C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688627 | |||||||
| chrX:16688765 | G | GCAAAA | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.872+680_872+684dup others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688765 | |||||||
| chrX:16688909 | CAT | C | 5 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(2): Show |
5 | HG01070.hp2 HG02965.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+539_872+540del others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688909 | |||||||
| chrX:16688938 | A | AT | 11 | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 others(8): Show |
11 | HG01109.hp1 HG02055.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.872+511_872+512ins others(1): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688938 | |||||||
| chrX:16688938 | A | T | 1 | a0001c0001t0002g0040 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.872+512T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688938 | |||||||
| chrX:16688940 | A | T | 93 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0042 others(90): Show |
93 | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.872+510T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688940 | |||||||
| chrX:16688942 | A | T | 139 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(136): Show |
139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.872+508T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16688942 | |||||||
| chrX:16689267 | C | T | 1 | a0001c0001t0001g0132 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.872+183G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16689267 | |||||||
| chrX:16689371 | T | C | 5 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0013 others(2): Show |
5 | HG01070.hp2 HG02965.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.872+79A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | 16689371 | |||||||
| chrX:16689722 | G | A | 1 | a0001c0001t0002g0045 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.721-121C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16689722 | |||||||
| chrX:16689781 | T | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.721-180A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16689781 | |||||||
| chrX:16689800 | C | A | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.721-199G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16689800 | |||||||
| chrX:16690371 | C | CA | 5 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.721-771dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16690371 | |||||||
| chrX:16690555 | G | C | 133 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(130): Show |
133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.721-954C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16690555 | |||||||
| chrX:16691256 | T | C | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.720+284A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691256 | |||||||
| chrX:16691311 | T | C | 1 | a0001c0001t0002g0084 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.720+229A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691311 | |||||||
| chrX:16691490 | C | T | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.720+50G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691490 | |||||||
| chrX:16691503 | G | A | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.720+37C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 7/18 | chrX | 16691503 | |||||||
| chrX:16691811 | G | A | 1 | a0001c0001t0002g0050 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.640-191C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16691811 | |||||||
| chrX:16691823 | C | T | 1 | a0001c0001t0002g0084 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.640-203G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16691823 | |||||||
| chrX:16691963 | C | T | 133 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(130): Show |
133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.640-343G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16691963 | |||||||
| chrX:16692168 | A | G | 1 | a0001c0001t0001g0172 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.640-548T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692168 | |||||||
| chrX:16692279 | C | A | 130 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(127): Show |
130 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.640-659G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692279 | |||||||
| chrX:16692281 | A | AAC | 5 | a0001c0001t0001g0008 a0001c0001t0001g0144 a0001c0001t0002g0011 others(2): Show |
5 | HG02165.hp1 HG02451.hp2 HG02922.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-663_640-662dup others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692281 | |||||||
| chrX:16692324 | C | T | 1 | a0001c0001t0001g0100 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.640-704G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692324 | |||||||
| chrX:16692431 | T | C | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.639+710A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692431 | |||||||
| chrX:16692675 | A | C | 33 | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0017 others(30): Show |
33 | HG00280.hp1 HG00639.hp1 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.639+466T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692675 | |||||||
| chrX:16692784 | T | A | 1 | a0001c0001t0002g0128 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.639+357A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692784 | |||||||
| chrX:16692917 | G | T | 1 | a0001c0002t0002g0139 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.639+224C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16692917 | |||||||
| chrX:16693061 | TA | T | 8 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0030 others(5): Show |
8 | HG01167.hp1 HG01169.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.639+79delT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 6/18 | chrX | 16693061 | |||||||
| chrX:16693532 | T | C | 1 | a0001c0001t0001g0161 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.439-45A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16693532 | |||||||
| chrX:16693677 | C | T | 133 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(130): Show |
133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.439-190G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16693677 | |||||||
| chrX:16693747 | C | T | 1 | a0001c0001t0002g0057 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.439-260G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16693747 | |||||||
| chrX:16694006 | A | G | 1 | a0001c0001t0002g0168 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.439-519T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694006 | |||||||
| chrX:16694608 | G | C | 14 | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 others(11): Show |
14 | HG01109.hp1 HG02055.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.439-1121C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694608 | |||||||
| chrX:16694631 | G | C | 4 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(1): Show |
4 | HG02559.hp1 HG03209.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.439-1144C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694631 | |||||||
| chrX:16694636 | G | C | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.439-1149C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694636 | |||||||
| chrX:16694738 | A | G | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.439-1251T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694738 | |||||||
| chrX:16694782 | A | G | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.439-1295T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16694782 | |||||||
| chrX:16695002 | A | AAAC | 135 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(132): Show |
135 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(132): Show |
intron_variant | MODIFIER | c.439-1518_439-1516d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695002 | |||||||
| chrX:16695002 | A | AAACAAC | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.439-1521_439-1516d others(8): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695002 | |||||||
| chrX:16695015 | A | C | 1 | a0001c0001t0001g0056 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.439-1528T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695015 | |||||||
| chrX:16695114 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0171 |
2 | HG01167.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.439-1627G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695114 | |||||||
| chrX:16695146 | G | GA | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.439-1660dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695146 | |||||||
| chrX:16695414 | G | A | 137 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(134): Show |
137 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(134): Show |
intron_variant | MODIFIER | c.439-1927C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695414 | |||||||
| chrX:16695583 | G | A | 132 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(129): Show |
132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.439-2096C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695583 | |||||||
| chrX:16695590 | T | C | 132 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(129): Show |
132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.439-2103A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695590 | |||||||
| chrX:16695608 | A | G | 132 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(129): Show |
132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.439-2121T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695608 | |||||||
| chrX:16695712 | C | T | 1 | a0001c0001t0001g0140 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.439-2225G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695712 | |||||||
| chrX:16695876 | A | G | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.438+2360T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16695876 | |||||||
| chrX:16696894 | C | CCAAA | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.438+1341_438+1342i others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16696894 | |||||||
| chrX:16697001 | A | C | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.438+1235T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697001 | |||||||
| chrX:16697085 | A | G | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.438+1151T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697085 | |||||||
| chrX:16697248 | T | G | 3 | a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0006g0119 |
3 | HG02040.hp1 NA18943.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.438+988A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697248 | |||||||
| chrX:16697312 | G | A | 1 | a0001c0001t0001g0070 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.438+924C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697312 | |||||||
| chrX:16697432 | CT | C | 77 | a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0047 others(74): Show |
77 | HG00438.hp2 HG00639.hp2 HG00642.hp1 others(74): Show |
intron_variant | MODIFIER | c.438+803delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | |||||||
| chrX:16697432 | CTT | C | 98 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 others(95): Show |
98 | HG00280.hp1 HG00438.hp1 HG00609.hp1 others(95): Show |
intron_variant | MODIFIER | c.438+802_438+803del others(2): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | |||||||
| chrX:16697432 | CTTT | C | 43 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0029 others(40): Show |
43 | HG00140.hp1 HG00621.hp1 HG01074.hp1 others(40): Show |
intron_variant | MODIFIER | c.438+801_438+803del others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697432 | |||||||
| chrX:16697458 | T | A | 3 | a0001c0001t0001g0120 a0001c0001t0002g0071 a0001c0001t0002g0072 |
3 | HG02258.hp1 HG02630.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.438+778A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697458 | |||||||
| chrX:16697472 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.438+764C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697472 | |||||||
| chrX:16697641 | G | A | 1 | a0001c0001t0002g0013 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.438+595C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16697641 | |||||||
| chrX:16698011 | C | T | 128 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(125): Show |
128 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(125): Show |
intron_variant | MODIFIER | c.438+225G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 4/18 | chrX | 16698011 | |||||||
| chrX:16698556 | GT | G | 5 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.338-221delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698556 | |||||||
| chrX:16698556 | GTTT | G | 131 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(128): Show |
131 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.338-223_338-221del others(3): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698556 | |||||||
| chrX:16698663 | G | C | 1 | a0001c0001t0002g0221 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.337+260C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698663 | |||||||
| chrX:16698674 | C | A | 1 | a0001c0001t0002g0133 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.337+249G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 3/18 | chrX | 16698674 | |||||||
| chrX:16699230 | G | A | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.167-137C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699230 | |||||||
| chrX:16699289 | C | T | 1 | a0001c0001t0001g0098 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.167-196G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699289 | |||||||
| chrX:16699740 | C | G | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.167-647G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699740 | |||||||
| chrX:16699928 | A | AT | 134 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show |
134 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.167-836dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699928 | |||||||
| chrX:16699993 | C | T | 1 | a0001c0001t0002g0128 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.167-900G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16699993 | |||||||
| chrX:16700032 | A | G | 1 | a0001c0002t0002g0200 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.167-939T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700032 | |||||||
| chrX:16700112 | CATT | C | 134 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show |
134 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(131): Show |
intron_variant | MODIFIER | c.167-1022_167-1020d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700112 | |||||||
| chrX:16700191 | A | G | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.167-1098T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700191 | |||||||
| chrX:16700386 | C | T | 1 | a0001c0001t0001g0097 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.167-1293G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700386 | |||||||
| chrX:16700402 | C | G | 3 | a0001c0001t0001g0054 a0001c0001t0001g0095 a0001c0001t0001g0124 |
3 | NA18956.hp2 NA18961.hp1 NA18988.hp1 |
intron_variant | MODIFIER | c.167-1309G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700402 | |||||||
| chrX:16700493 | C | T | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.167-1400G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16700493 | |||||||
| chrX:16701010 | A | G | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.166+1727T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701010 | |||||||
| chrX:16701045 | G | A | 1 | a0001c0001t0002g0072 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.166+1692C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701045 | |||||||
| chrX:16701164 | C | A | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.166+1573G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701164 | |||||||
| chrX:16701393 | TAAA | T | 8 | a0001c0001t0003g0036 a0001c0001t0003g0142 a0001c0001t0003g0143 others(5): Show |
8 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(5): Show |
intron_variant | MODIFIER | c.166+1341_166+1343d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701393 | |||||||
| chrX:16701501 | T | C | 1 | a0001c0001t0002g0034 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.166+1236A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701501 | |||||||
| chrX:16701605 | A | AT | 8 | a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 others(5): Show |
8 | HG01109.hp1 HG02559.hp2 HG02735.hp1 others(5): Show |
intron_variant | MODIFIER | c.166+1131dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701605 | |||||||
| chrX:16701663 | G | A | 1 | a0001c0001t0003g0036 | 1 | HG01070.hp1 | intron_variant | MODIFIER | c.166+1074C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701663 | |||||||
| chrX:16701762 | G | A | 5 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0121 others(2): Show |
5 | HG00642.hp1 HG01975.hp1 HG02273.hp1 others(2): Show |
intron_variant | MODIFIER | c.166+975C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701762 | |||||||
| chrX:16701815 | G | A | 131 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(128): Show |
131 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(128): Show |
intron_variant | MODIFIER | c.166+922C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701815 | |||||||
| chrX:16701842 | G | A | 2 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.166+895C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701842 | |||||||
| chrX:16701993 | CT | C | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.166+743delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16701993 | |||||||
| chrX:16702053 | T | C | 2 | a0001c0001t0002g0011 a0001c0001t0002g0012 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.166+684A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702053 | |||||||
| chrX:16702146 | C | T | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.166+591G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702146 | |||||||
| chrX:16702495 | A | C | 1 | a0001c0002t0002g0073 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.166+242T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702495 | |||||||
| chrX:16702596 | A | T | 1 | a0001c0001t0002g0075 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.166+141T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 2/18 | chrX | 16702596 | |||||||
| chrX:16703006 | T | C | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.-39-65A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703006 | |||||||
| chrX:16703022 | A | AT | 21 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0140 others(18): Show |
21 | HG00733.hp1 HG01109.hp1 HG01361.hp1 others(18): Show |
intron_variant | MODIFIER | c.-39-82dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703022 | |||||||
| chrX:16703022 | AT | A | 14 | a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0001g0122 others(11): Show |
14 | HG01099.hp1 HG02559.hp1 HG02615.hp2 others(11): Show |
intron_variant | MODIFIER | c.-39-82delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703022 | |||||||
| chrX:16703623 | GCTTCGTC others(4): Show |
G | 1 | a0001c0001t0001g0204 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-693_-39-683del others(11): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703623 | |||||||
| chrX:16703807 | C | T | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.-39-866G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703807 | |||||||
| chrX:16703865 | C | A | 1 | a0001c0001t0001g0213 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-39-924G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703865 | |||||||
| chrX:16703931 | C | CT | 17 | a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0144 others(14): Show |
17 | HG00280.hp1 HG00733.hp2 HG01069.hp1 others(14): Show |
intron_variant | MODIFIER | c.-39-991dupA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703931 | |||||||
| chrX:16703931 | CT | C | 7 | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0123 others(4): Show |
7 | HG01515.hp1 NA18940.hp1 NA18959.hp1 others(4): Show |
intron_variant | MODIFIER | c.-39-991delA | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16703931 | |||||||
| chrX:16704106 | G | A | 1 | a0001c0001t0001g0214 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.-39-1165C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704106 | |||||||
| chrX:16704542 | T | A | 1 | a0001c0001t0001g0204 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-39-1601A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704542 | |||||||
| chrX:16704620 | G | A | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.-39-1679C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704620 | |||||||
| chrX:16704852 | AAGAGAGA others(20): Show |
A | 5 | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 others(2): Show |
5 | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.-39-1938_-39-1912d others(29): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704852 | |||||||
| chrX:16704993 | C | T | 1 | a0001c0001t0001g0080 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.-39-2052G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704993 | |||||||
| chrX:16704999 | T | C | 1 | a0001c0001t0003g0218 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.-39-2058A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16704999 | |||||||
| chrX:16705115 | G | T | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.-39-2174C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705115 | |||||||
| chrX:16705208 | T | G | 2 | a0001c0001t0001g0093 a0001c0001t0001g0094 |
2 | NA18612.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.-39-2267A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705208 | |||||||
| chrX:16705247 | T | A | 1 | a0001c0002t0012g0051 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-39-2306A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705247 | |||||||
| chrX:16705516 | G | T | 136 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(133): Show |
136 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(133): Show |
intron_variant | MODIFIER | c.-39-2575C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705516 | |||||||
| chrX:16705835 | G | T | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-39-2894C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16705835 | |||||||
| chrX:16706100 | C | CA | 5 | a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 others(2): Show |
5 | HG00735.hp1 HG02071.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.-39-3160dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706100 | |||||||
| chrX:16706221 | C | T | 1 | a0001c0001t0001g0205 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-39-3280G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706221 | |||||||
| chrX:16706334 | A | C | 1 | a0001c0001t0001g0124 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3393T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706334 | |||||||
| chrX:16706336 | T | G | 1 | a0001c0001t0001g0124 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-39-3395A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706336 | |||||||
| chrX:16706391 | C | T | 6 | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(3): Show |
6 | HG00642.hp1 HG01975.hp1 HG02273.hp1 others(3): Show |
intron_variant | MODIFIER | c.-39-3450G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706391 | |||||||
| chrX:16706405 | AGAGT | A | 2 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-39-3468_-39-3465d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706405 | |||||||
| chrX:16706748 | G | C | 139 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(136): Show |
139 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
intron_variant | MODIFIER | c.-39-3807C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706748 | |||||||
| chrX:16706856 | T | A | 1 | a0001c0001t0001g0177 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.-39-3915A>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706856 | |||||||
| chrX:16706868 | A | C | 6 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(3): Show |
6 | HG02559.hp1 HG02630.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.-39-3927T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706868 | |||||||
| chrX:16706936 | G | A | 3 | a0001c0001t0002g0005 a0001c0002t0002g0073 a0001c0002t0002g0220 |
3 | HG02630.hp2 HG02886.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.-39-3995C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706936 | |||||||
| chrX:16706959 | C | G | 1 | a0001c0001t0001g0015 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-39-4018G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16706959 | |||||||
| chrX:16707042 | C | CA | 132 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(129): Show |
132 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.-39-4102dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707042 | |||||||
| chrX:16707056 | G | A | 1 | a0001c0002t0002g0127 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-4115C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707056 | |||||||
| chrX:16707057 | A | G | 1 | a0001c0002t0002g0127 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.-39-4116T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707057 | |||||||
| chrX:16707600 | G | A | 1 | a0001c0001t0001g0126 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.-39-4659C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707600 | |||||||
| chrX:16707620 | G | C | 1 | a0001c0001t0002g0050 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-39-4679C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707620 | |||||||
| chrX:16707717 | A | C | 1 | a0001c0001t0001g0204 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-40+4618T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707717 | |||||||
| chrX:16707865 | T | C | 133 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(130): Show |
133 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(130): Show |
intron_variant | MODIFIER | c.-40+4470A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707865 | |||||||
| chrX:16707999 | A | AAG | 6 | a0001c0001t0001g0010 a0001c0001t0002g0009 a0001c0001t0002g0011 others(3): Show |
6 | HG01070.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.-40+4334_-40+4335d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16707999 | |||||||
| chrX:16708319 | A | C | 1 | a0001c0002t0002g0136 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+4016T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708319 | |||||||
| chrX:16708694 | A | C | 1 | a0001c0001t0002g0221 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-40+3641T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708694 | |||||||
| chrX:16708713 | C | T | 1 | a0001c0001t0001g0172 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.-40+3622G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708713 | |||||||
| chrX:16708815 | C | T | 2 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-40+3520G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708815 | |||||||
| chrX:16708883 | C | T | 4 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(1): Show |
4 | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.-40+3452G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708883 | |||||||
| chrX:16708937 | T | C | 5 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0074 others(2): Show |
5 | HG02559.hp1 HG02615.hp2 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.-40+3398A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708937 | |||||||
| chrX:16708956 | A | C | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-40+3379T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16708956 | |||||||
| chrX:16709068 | C | A | 1 | a0001c0002t0002g0136 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.-40+3267G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709068 | |||||||
| chrX:16709155 | C | T | 25 | a0001c0001t0001g0008 a0001c0001t0001g0039 a0001c0001t0001g0042 others(22): Show |
25 | HG00438.hp1 HG00609.hp1 HG00735.hp1 others(22): Show |
intron_variant | MODIFIER | c.-40+3180G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709155 | |||||||
| chrX:16709157 | G | GTGGCTCA others(416): Show |
3 | a0001c0002t0002g0076 a0001c0002t0002g0215 a0001c0002t0002g0216 |
3 | HG01975.hp2 HG01978.hp1 HG02293.hp2 |
intron_variant | MODIFIER | c.-40+3177_-40+3178i others(425): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709157 | |||||||
| chrX:16709335 | C | T | 2 | a0001c0001t0002g0037 a0001c0001t0002g0038 |
2 | HG03195.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.-40+3000G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709335 | |||||||
| chrX:16709358 | G | A | 1 | a0001c0001t0002g0137 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-40+2977C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709358 | |||||||
| chrX:16709421 | G | C | 138 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(135): Show |
138 | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(135): Show |
intron_variant | MODIFIER | c.-40+2914C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709421 | |||||||
| chrX:16709620 | G | T | 10 | a0001c0001t0002g0163 a0001c0001t0002g0201 a0001c0001t0003g0036 others(7): Show |
10 | HG00733.hp2 HG01069.hp1 HG01070.hp1 others(7): Show |
intron_variant | MODIFIER | c.-40+2715C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709620 | |||||||
| chrX:16709622 | G | A | 1 | a0001c0001t0001g0161 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.-40+2713C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709622 | |||||||
| chrX:16709654 | T | G | 3 | a0001c0001t0003g0218 a0001c0002t0002g0200 a0001c0002t0002g0217 |
3 | HG02280.hp2 HG02615.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-40+2681A>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709654 | |||||||
| chrX:16709657 | T | C | 3 | a0001c0001t0003g0218 a0001c0002t0002g0200 a0001c0002t0002g0217 |
3 | HG02280.hp2 HG02615.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-40+2678A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709657 | |||||||
| chrX:16709732 | T | C | 39 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(36): Show |
39 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(36): Show |
intron_variant | MODIFIER | c.-40+2603A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709732 | |||||||
| chrX:16709753 | G | T | 40 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(37): Show |
40 | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(37): Show |
intron_variant | MODIFIER | c.-40+2582C>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709753 | |||||||
| chrX:16709760 | A | C | 1 | a0001c0001t0001g0162 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-40+2575T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709760 | |||||||
| chrX:16709833 | G | C | 1 | a0001c0003t0002g0138 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-40+2502C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709833 | |||||||
| chrX:16709841 | C | T | 1 | a0001c0001t0001g0007 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.-40+2494G>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709841 | |||||||
| chrX:16709848 | C | CA | 62 | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 others(59): Show |
62 | HG00438.hp1 HG00642.hp1 HG00735.hp1 others(59): Show |
intron_variant | MODIFIER | c.-40+2486dupT | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | |||||||
| chrX:16709848 | C | CAA | 26 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 others(23): Show |
26 | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(23): Show |
intron_variant | MODIFIER | c.-40+2485_-40+2486d others(4): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | |||||||
| chrX:16709848 | C | CAAA | 41 | a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 others(38): Show |
41 | HG00140.hp1 HG00621.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.-40+2484_-40+2486d others(5): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | |||||||
| chrX:16709848 | C | CAAAA | 18 | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(15): Show |
18 | HG00733.hp2 HG01243.hp1 HG01516.hp1 others(15): Show |
intron_variant | MODIFIER | c.-40+2483_-40+2486d others(6): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | |||||||
| chrX:16709848 | CAAAAAAA others(5): Show |
C | 1 | a0001c0001t0002g0006 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-40+2475_-40+2486d others(14): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | |||||||
| chrX:16709848 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0002g0221 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-40+2474_-40+2486d others(15): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16709848 | |||||||
| chrX:16710054 | A | G | 1 | a0001c0001t0002g0005 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.-40+2281T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710054 | |||||||
| chrX:16710164 | A | T | 1 | a0001c0001t0002g0004 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.-40+2171T>A | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710164 | |||||||
| chrX:16710627 | G | C | 1 | a0001c0001t0002g0219 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.-40+1708C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710627 | |||||||
| chrX:16710869 | G | A | 1 | a0001c0002t0002g0220 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-40+1466C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710869 | |||||||
| chrX:16710958 | C | G | 1 | a0001c0001t0001g0003 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1377G>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710958 | |||||||
| chrX:16710959 | A | C | 1 | a0001c0001t0001g0003 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.-40+1376T>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710959 | |||||||
| chrX:16710985 | T | C | 1 | a0001c0001t0002g0221 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.-40+1350A>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710985 | |||||||
| chrX:16710991 | A | G | 1 | a0001c0002t0002g0002 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-40+1344T>C | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16710991 | |||||||
| chrX:16711849 | C | A | 1 | a0001c0001t0002g0222 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-40+486G>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711849 | |||||||
| chrX:16711885 | G | A | 1 | a0001c0001t0001g0223 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.-40+450C>T | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16711885 | |||||||
| chrX:16712163 | G | C | 1 | a0001c0002t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-40+172C>G | CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | 16712163 |