Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 9254 |
| ensemblid | ENSG00000007402.12 |
| hgncid | 1400 |
| symbol | CACNA2D2 |
| name | calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
| refseq_nuc | NM_006030.4 |
| refseq_prot | NP_006021.2 |
| ensembl_nuc | ENST00000424201.7 |
| ensembl_prot | ENSP00000390329.2 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 50362613 |
| end | 50503634 |
| strand | - |
| ver | v1.2 |
| region | chr3:50362613-50503634 |
| region5000 | chr3:50357613-50508634 |
| regionname0 | CACNA2D2_chr3_50362613_50503634 |
| regionname5000 | CACNA2D2_chr3_50357613_50508634 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1143 | 209 | 54 | 41 | 82 | 6 | 24 | 53 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | MAVPA others(1138): Show |
chr3 | 50357613 | 50508634 |
| a0002 | 0/0 | 1143 | 16 | 14 | 2 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | MAVPA others(1138): Show |
chr3 | 50357613 | 50508634 |
| a0003 | 0/0 | 1143 | 5 | 4 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | MAVPA others(1138): Show |
chr3 | 50357613 | 50508634 |
| a0004 | 0/0 | 1143 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | MAVPA others(1138): Show |
chr3 | 50357613 | 50508634 |
| a0005 | 0/0 | 1143 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | MAVPA others(1138): Show |
chr3 | 50357613 | 50508634 |
| a0006 | 0/0 | 1143 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | MAVPA others(1138): Show |
chr3 | 50357613 | 50508634 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3429 | 181 | 31 | 39 | 82 | 6 | 21 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0001c0002 | 0/0 | 3429 | 27 | 22 | 2 | 0 | 0 | 3 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0001c0007 | 0/0 | 3429 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0002c0003 | 0/0 | 3429 | 15 | 13 | 2 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0002c0009 | 0/0 | 3429 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0003c0004 | 0/0 | 3429 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0003c0010 | 0/0 | 3429 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0003c0011 | 0/0 | 3429 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0004c0005 | 0/0 | 3429 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0005c0008 | 0/0 | 3429 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 | ||
| a0006c0006 | 0/0 | 3429 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | ATGGC others(3424): Show |
chr3 | 50357613 | 50508634 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 5696 | 83 | 23 | 19 | 24 | 3 | 13 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0002 | 0/0 | 5694 | 44 | 0 | 11 | 32 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0004 | 0/0 | 5694 | 11 | 0 | 1 | 6 | 1 | 3 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0005 | 0/1 | 5688 | 9 | 1 | 3 | 1 | 1 | 2 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5683): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0006 | 0/0 | 5690 | 5 | 2 | 1 | 1 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5685): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0007 | 0/0 | 5688 | 6 | 0 | 1 | 5 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5683): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0009 | 0/0 | 5691 | 3 | 0 | 0 | 3 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5686): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0011 | 0/0 | 5696 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0013 | 0/0 | 5696 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0014 | 0/0 | 5696 | 2 | 0 | 0 | 2 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0016 | 0/0 | 5688 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5683): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0017 | 0/0 | 5719 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5714): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0018 | 0/0 | 5700 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5695): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0019 | 0/0 | 5708 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5703): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0020 | 0/0 | 5696 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0021 | 0/0 | 5680 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5675): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0022 | 0/0 | 5709 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5704): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0023 | 0/0 | 5686 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5681): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0024 | 0/0 | 5694 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0026 | 0/0 | 5696 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0027 | 0/0 | 5713 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5708): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0028 | 0/0 | 5694 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0029 | 0/0 | 5694 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0030 | 0/0 | 5696 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0001t0031 | 0/0 | 5694 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| a0001c0002t0001 | 0/0 | 5696 | 24 | 19 | 2 | 0 | 0 | 3 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0002t0006 | 0/0 | 5690 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5685): Show |
chr3 | 50357613 | 50508634 |
| a0001c0002t0013 | 0/0 | 5696 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0001c0007t0001 | 0/0 | 5696 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0002c0003t0003 | 0/0 | 5709 | 12 | 11 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5704): Show |
chr3 | 50357613 | 50508634 |
| a0002c0003t0012 | 0/0 | 5709 | 2 | 1 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5704): Show |
chr3 | 50357613 | 50508634 |
| a0002c0003t0025 | 0/0 | 5709 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5704): Show |
chr3 | 50357613 | 50508634 |
| a0002c0009t0003 | 0/0 | 5709 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5704): Show |
chr3 | 50357613 | 50508634 |
| a0003c0004t0008 | 0/0 | 5696 | 3 | 3 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0003c0010t0015 | 0/0 | 5696 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0003c0011t0008 | 0/0 | 5696 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0004c0005t0010 | 0/0 | 5703 | 2 | 2 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5698): Show |
chr3 | 50357613 | 50508634 |
| a0005c0008t0001 | 0/0 | 5696 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5691): Show |
chr3 | 50357613 | 50508634 |
| a0006c0006t0002 | 0/0 | 5694 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | AGAGC others(5689): Show |
chr3 | 50357613 | 50508634 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0131 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0095 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0004g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0008 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0015 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0005g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0006g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0006g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0006g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0006g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0006g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0007g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0007g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0007g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0007g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0007g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0007g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0009g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0009g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0009g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0011g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0011g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0013g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0014g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0014g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0016g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0017g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0018g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0019g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0020g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0021g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0022g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0023g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0024g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0026g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0027g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0028g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0029g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0030g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0001t0031g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0006g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0006g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0002t0013g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0001c0007t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0003g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0012g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0012g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0003t0025g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0002c0009t0003g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0003c0004t0008g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0003c0004t0008g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0003c0004t0008g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0003c0010t0015g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0003c0011t0008g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0004c0005t0010g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0004c0005t0010g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0005c0008t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| a0006c0006t0002g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0020 | g0154 | EUR | GBR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00099 | hp2 | a0001 | c0001 | t0005 | g0008 | EUR | GBR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0144 | EUR | FIN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0105 | EUR | FIN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0181 | EUR | FIN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00323 | hp2 | a0001 | c0001 | t0004 | g0095 | EUR | FIN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0053 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00438 | hp1 | a0001 | c0001 | t0029 | g0059 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00438 | hp2 | a0001 | c0001 | t0002 | g0189 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00597 | hp1 | a0001 | c0001 | t0002 | g0063 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00597 | hp2 | a0001 | c0001 | t0002 | g0120 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0153 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00609 | hp2 | a0001 | c0001 | t0011 | g0212 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00621 | hp1 | a0005 | c0008 | t0001 | g0116 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00621 | hp2 | a0001 | c0001 | t0002 | g0196 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00673 | hp2 | a0001 | c0001 | t0002 | g0065 | EAS | CHS | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0204 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG00735 | hp2 | a0001 | c0001 | t0016 | g0020 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01071 | hp1 | a0001 | c0001 | t0001 | g0205 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01071 | hp2 | a0001 | c0001 | t0004 | g0094 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01074 | hp1 | a0002 | c0003 | t0012 | g0177 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0134 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0048 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01167 | hp1 | a0001 | c0001 | t0005 | g0024 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01167 | hp2 | a0001 | c0002 | t0001 | g0220 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0219 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01169 | hp2 | a0001 | c0002 | t0001 | g0221 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0142 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01175 | hp2 | a0001 | c0001 | t0005 | g0022 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0047 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01243 | hp1 | a0002 | c0003 | t0003 | g0170 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0140 | AMR | PUR | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0069 | AMR | CLM | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0132 | AMR | CLM | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0102 | AMR | CLM | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01257 | hp2 | a0001 | c0001 | t0031 | g0230 | AMR | CLM | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | CLM | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0200 | AMR | CLM | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01884 | hp1 | a0001 | c0007 | t0001 | g0050 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01884 | hp2 | a0001 | c0002 | t0001 | g0223 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01934 | hp1 | a0003 | c0010 | t0015 | g0003 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01934 | hp2 | a0001 | c0001 | t0005 | g0021 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0113 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01943 | hp2 | a0001 | c0001 | t0002 | g0070 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01952 | hp1 | a0001 | c0001 | t0006 | g0019 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01952 | hp2 | a0001 | c0001 | t0002 | g0052 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0166 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01975 | hp2 | a0001 | c0001 | t0002 | g0044 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0112 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0071 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0074 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0137 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0125 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0060 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02015 | hp1 | a0001 | c0001 | t0002 | g0064 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0056 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02055 | hp1 | a0001 | c0002 | t0006 | g0013 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02055 | hp2 | a0001 | c0002 | t0001 | g0182 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02071 | hp1 | a0001 | c0001 | t0002 | g0190 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0229 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02074 | hp1 | a0001 | c0001 | t0027 | g0188 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02074 | hp2 | a0001 | c0001 | t0021 | g0165 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02132 | hp1 | a0001 | c0001 | t0002 | g0195 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0119 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02135 | hp1 | a0001 | c0001 | t0002 | g0055 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | KHV | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02145 | hp1 | a0001 | c0002 | t0001 | g0034 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0203 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02148 | hp1 | a0001 | c0001 | t0007 | g0017 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02148 | hp2 | a0001 | c0001 | t0028 | g0072 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02155 | hp1 | a0001 | c0001 | t0004 | g0185 | EAS | CDX | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | CDX | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02258 | hp2 | a0001 | c0001 | t0019 | g0031 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0117 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02273 | hp2 | a0001 | c0001 | t0002 | g0051 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02280 | hp1 | a0001 | c0002 | t0013 | g0231 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0041 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0073 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0107 | AMR | PEL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02451 | hp1 | a0002 | c0003 | t0003 | g0180 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02451 | hp2 | a0001 | c0001 | t0023 | g0226 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02572 | hp1 | a0001 | c0002 | t0001 | g0079 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02572 | hp2 | a0004 | c0005 | t0010 | g0028 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0096 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02602 | hp2 | a0001 | c0002 | t0001 | g0146 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0143 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02615 | hp2 | a0001 | c0002 | t0001 | g0037 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0103 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02698 | hp2 | a0001 | c0002 | t0001 | g0147 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0042 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02723 | hp2 | a0003 | c0011 | t0008 | g0001 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02735 | hp1 | a0001 | c0001 | t0018 | g0077 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0101 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0216 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02738 | hp2 | a0001 | c0002 | t0001 | g0145 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02818 | hp1 | a0002 | c0003 | t0025 | g0168 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02886 | hp1 | a0001 | c0002 | t0001 | g0086 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02886 | hp2 | a0003 | c0004 | t0008 | g0002 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02895 | hp2 | a0002 | c0003 | t0003 | g0035 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02897 | hp1 | a0002 | c0003 | t0003 | g0036 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0081 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02922 | hp1 | a0004 | c0005 | t0010 | g0029 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02965 | hp1 | a0002 | c0003 | t0003 | g0173 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02965 | hp2 | a0001 | c0002 | t0001 | g0218 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02970 | hp1 | a0001 | c0002 | t0001 | g0224 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0130 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02976 | hp1 | a0002 | c0003 | t0003 | g0175 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02976 | hp2 | a0001 | c0002 | t0001 | g0033 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0108 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0225 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03041 | hp1 | a0002 | c0003 | t0003 | g0167 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0158 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0040 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03098 | hp2 | a0001 | c0002 | t0001 | g0090 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03139 | hp1 | a0002 | c0003 | t0003 | g0172 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0159 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03195 | hp1 | a0001 | c0001 | t0013 | g0232 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03195 | hp2 | a0002 | c0003 | t0012 | g0174 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03453 | hp1 | a0001 | c0002 | t0001 | g0111 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0128 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03486 | hp2 | a0001 | c0002 | t0001 | g0038 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03516 | hp2 | a0002 | c0003 | t0003 | g0032 | AFR | ESN | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03540 | hp1 | a0001 | c0002 | t0001 | g0084 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0138 | AFR | GWD | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03579 | hp1 | a0001 | c0002 | t0001 | g0087 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03579 | hp2 | a0001 | c0001 | t0006 | g0006 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03654 | hp1 | a0001 | c0001 | t0004 | g0092 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0121 | SAS | PJL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0202 | SAS | BEB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03834 | hp2 | a0001 | c0001 | t0006 | g0030 | SAS | BEB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0141 | SAS | BEB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03927 | hp2 | a0001 | c0001 | t0005 | g0016 | SAS | BEB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03942 | hp1 | a0001 | c0001 | t0004 | g0046 | SAS | BEB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0124 | SAS | BEB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0106 | SAS | STU | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0201 | SAS | STU | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG04228 | hp1 | a0001 | c0001 | t0005 | g0025 | SAS | STU | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0217 | SAS | STU | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18612 | hp1 | a0001 | c0001 | t0007 | g0018 | EAS | CHB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0091 | EAS | CHB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18747 | hp1 | a0001 | c0001 | t0011 | g0099 | EAS | CHB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0068 | EAS | CHB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18906 | hp1 | a0002 | c0009 | t0003 | g0176 | AFR | YRI | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0129 | AFR | YRI | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18940 | hp1 | a0001 | c0001 | t0002 | g0049 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18941 | hp1 | a0001 | c0001 | t0002 | g0215 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18941 | hp2 | a0001 | c0001 | t0009 | g0210 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18942 | hp2 | a0001 | c0001 | t0009 | g0208 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0062 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18944 | hp1 | a0001 | c0001 | t0007 | g0011 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0197 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18945 | hp2 | a0001 | c0001 | t0017 | g0089 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18947 | hp1 | a0001 | c0001 | t0002 | g0191 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18948 | hp2 | a0001 | c0001 | t0007 | g0023 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18966 | hp1 | a0001 | c0001 | t0030 | g0155 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18966 | hp2 | a0001 | c0001 | t0007 | g0027 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18967 | hp1 | a0001 | c0001 | t0014 | g0233 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18967 | hp2 | a0001 | c0001 | t0002 | g0187 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18970 | hp1 | a0001 | c0001 | t0002 | g0057 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18970 | hp2 | a0001 | c0001 | t0006 | g0012 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18971 | hp1 | a0001 | c0001 | t0002 | g0198 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18977 | hp2 | a0001 | c0001 | t0026 | g0228 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18983 | hp2 | a0001 | c0001 | t0002 | g0061 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18986 | hp1 | a0001 | c0001 | t0002 | g0184 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18986 | hp2 | a0001 | c0001 | t0004 | g0211 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18999 | hp1 | a0001 | c0001 | t0014 | g0234 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA18999 | hp2 | a0001 | c0001 | t0002 | g0194 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19005 | hp1 | a0001 | c0001 | t0005 | g0014 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19005 | hp2 | a0001 | c0001 | t0004 | g0164 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19007 | hp2 | a0001 | c0001 | t0002 | g0054 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19010 | hp1 | a0001 | c0001 | t0004 | g0150 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19012 | hp2 | a0001 | c0001 | t0002 | g0066 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19030 | hp1 | a0003 | c0004 | t0008 | g0004 | AFR | LWK | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0227 | AFR | LWK | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0171 | AFR | LWK | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19043 | hp2 | a0001 | c0002 | t0001 | g0222 | AFR | LWK | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19060 | hp1 | a0001 | c0001 | t0009 | g0209 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19060 | hp2 | a0001 | c0001 | t0002 | g0078 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19064 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19064 | hp2 | a0001 | c0001 | t0004 | g0100 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19065 | hp2 | a0001 | c0001 | t0002 | g0193 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19066 | hp2 | a0001 | c0001 | t0004 | g0151 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19079 | hp2 | a0001 | c0001 | t0007 | g0026 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19085 | hp2 | a0006 | c0006 | t0002 | g0192 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0186 | EAS | JPT | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19240 | hp1 | a0002 | c0003 | t0003 | g0169 | AFR | YRI | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0139 | AFR | YRI | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA20129 | hp1 | a0002 | c0003 | t0003 | g0178 | AFR | ASW | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA20129 | hp2 | a0001 | c0002 | t0001 | g0039 | AFR | ASW | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0135 | SAS | GIH | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA20905 | hp2 | a0001 | c0001 | t0004 | g0161 | SAS | GIH | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0083 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02559 | hp1 | a0001 | c0002 | t0001 | g0085 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG02559 | hp2 | a0001 | c0001 | t0006 | g0007 | AFR | ACB | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03471 | hp1 | a0001 | c0002 | t0001 | g0136 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG03471 | hp2 | a0001 | c0002 | t0006 | g0010 | AFR | MSL | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG06807 | hp1 | a0001 | c0001 | t0022 | g0097 | AFR | USA | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| HG06807 | hp2 | a0003 | c0004 | t0008 | g0005 | AFR | USA | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0098 | AFR | USA | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA20300 | hp2 | a0001 | c0001 | t0005 | g0009 | AFR | USA | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA21309 | hp1 | a0002 | c0003 | t0003 | g0179 | AFR | LWK | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| NA21309 | hp2 | a0001 | c0001 | t0024 | g0088 | AFR | LWK | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0005 | g0015 | REF | REF | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0131 | REF | REF | CACNA2D2_chr3_50357613_50508634 | CACNA2D2 | chr3 | 50357613 | 50508634 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:50364749 | C | T | 2 | a0002 a0004 |
18 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(15): Show |
missense_variant | MODERATE | c.3349G>A | p.Val1117Ile | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 3560/5696 | 3349/3432 | 1117/1143 | chr3 | 50364749 | |||
| chr3:50367474 | T | G | 1 | a0005 | 1 | HG00621.hp1 | missense_variant | MODERATE | c.2321A>C | p.Asn774Thr | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 27/38 | 2532/5696 | 2321/3432 | 774/1143 | chr3 | 50367474 | |||
| chr3:50387576 | C | T | 1 | a0006 | 1 | NA19085.hp2 | missense_variant | MODERATE | c.502G>A | p.Ala168Thr | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/38 | 713/5696 | 502/3432 | 168/1143 | chr3 | 50387576 | |||
| chr3:50476135 | C | T | 1 | a0004 | 2 | HG02572.hp2 HG02922.hp1 |
missense_variant | MODERATE | c.271G>A | p.Val91Ile | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/38 | 482/5696 | 271/3432 | 91/1143 | chr3 | 50476135 | |||
| chr3:50503264 | G | A | 1 | a0003 | 5 | HG01934.hp1 HG02723.hp2 HG02886.hp2 others(2): Show |
missense_variant | MODERATE | c.160C>T | p.Leu54Phe | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 371/5696 | 160/3432 | 54/1143 | chr3 | 50503264 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:50364705 | C | T | 1 | a0003c0011 | 1 | HG02723.hp2 | synonymous_variant | LOW | c.3393G>A | p.Pro1131Pro | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 3604/5696 | 3393/3432 | 1131/1143 | chr3 | 50364705 | |||
| chr3:50364729 | G | A | 1 | a0001c0007 | 1 | HG01884.hp1 | synonymous_variant | LOW | c.3369C>T | p.Leu1123Leu | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 3580/5696 | 3369/3432 | 1123/1143 | chr3 | 50364729 | |||
| chr3:50381088 | G | A | 1 | a0002c0009 | 1 | NA18906.hp1 | synonymous_variant | LOW | c.691C>T | p.Leu231Leu | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 7/38 | 902/5696 | 691/3432 | 231/1143 | chr3 | 50381088 | |||
| chr3:50381116 | G | T | 2 | a0001c0002 a0003c0010 |
28 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(25): Show |
synonymous_variant | LOW | c.663C>A | p.Ile221Ile | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 7/38 | 874/5696 | 663/3432 | 221/1143 | chr3 | 50381116 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:50362635 | TTA | T | 15 | a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(12): Show |
76 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(73): Show |
3_prime_UTR_variant | MODIFIER | c.*2029_*2030delTA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 2029 | chr3 | 50362635 | ||||||
| chr3:50362645 | T | C | 1 | a0001c0001t0020 | 1 | HG00099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2021A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 2021 | chr3 | 50362645 | ||||||
| chr3:50362650 | G | A | 4 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(1): Show |
22 | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*2016C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 2016 | chr3 | 50362650 | ||||||
| chr3:50363280 | C | T | 2 | a0001c0001t0016 a0001c0001t0028 |
2 | HG00735.hp2 HG02148.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1386G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1386 | chr3 | 50363280 | ||||||
| chr3:50363304 | A | ACGAAGC | 2 | a0001c0001t0017 a0001c0001t0018 |
2 | HG02735.hp1 NA18945.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1356_*1361dupGCTT others(2): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1361 | chr3 | 50363304 | ||||||
| chr3:50363305 | CGAAGCCA others(9): Show |
C | 1 | a0001c0001t0021 | 1 | HG02074.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1345_*1360delATTA others(12): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1345 | chr3 | 50363305 | ||||||
| chr3:50363393 | G | A | 3 | a0002c0003t0003 a0002c0003t0012 a0002c0009t0003 |
15 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1273C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1273 | chr3 | 50363393 | ||||||
| chr3:50363466 | C | CTGTGTGT others(12): Show |
2 | a0001c0001t0017 a0001c0001t0027 |
2 | HG02074.hp1 NA18945.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1199_*1200insCGCT others(15): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1199 | chr3 | 50363466 | ||||||
| chr3:50363466 | C | CTGTGTGT others(5): Show |
1 | a0001c0001t0019 | 1 | HG02258.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1188_*1199dupCACA others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1199 | chr3 | 50363466 | ||||||
| chr3:50363466 | CTG | C | 4 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 others(1): Show |
21 | HG00099.hp2 HG00323.hp2 HG01071.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*1198_*1199delCA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1198 | chr3 | 50363466 | ||||||
| chr3:50363466 | CTGTGTGT others(3): Show |
C | 1 | a0001c0001t0023 | 1 | HG02451.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1190_*1199delCACA others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1190 | chr3 | 50363466 | ||||||
| chr3:50363467 | T | TGTGTGTG others(10): Show |
7 | a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(4): Show |
55 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*1198_*1199insGCTC others(13): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1198 | chr3 | 50363467 | ||||||
| chr3:50363469 | T | TGTGTGTG others(8): Show |
5 | a0001c0001t0022 a0002c0003t0003 a0002c0003t0025 others(2): Show |
17 | HG01243.hp1 HG02451.hp1 HG02572.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1196_*1197insGCTC others(11): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1196 | chr3 | 50363469 | ||||||
| chr3:50363469 | T | TGTGTGTG others(8): Show |
1 | a0002c0003t0012 | 2 | HG01074.hp1 HG03195.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1196_*1197insGCTC others(11): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1196 | chr3 | 50363469 | ||||||
| chr3:50363478 | G | C | 1 | a0001c0001t0029 | 1 | HG00438.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1188C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1188 | chr3 | 50363478 | ||||||
| chr3:50363687 | C | G | 2 | a0001c0001t0017 a0001c0001t0018 |
2 | HG02735.hp1 NA18945.hp2 |
3_prime_UTR_variant | MODIFIER | c.*979G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 979 | chr3 | 50363687 | ||||||
| chr3:50363695 | G | A | 1 | a0003c0010t0015 | 1 | HG01934.hp1 | 3_prime_UTR_variant | MODIFIER | c.*971C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 971 | chr3 | 50363695 | ||||||
| chr3:50363989 | CCCCAT | C | 1 | a0001c0001t0009 | 3 | NA18941.hp2 NA18942.hp2 NA19060.hp1 |
3_prime_UTR_variant | MODIFIER | c.*672_*676delATGGG | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 672 | chr3 | 50363989 | ||||||
| chr3:50364213 | G | A | 1 | a0001c0001t0024 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*453C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 453 | chr3 | 50364213 | ||||||
| chr3:50364220 | G | C | 1 | a0002c0003t0025 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*446C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 446 | chr3 | 50364220 | ||||||
| chr3:50364314 | G | A | 1 | a0001c0001t0026 | 1 | NA18977.hp2 | 3_prime_UTR_variant | MODIFIER | c.*352C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 352 | chr3 | 50364314 | ||||||
| chr3:50364410 | G | A | 7 | a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(4): Show |
55 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*256C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 256 | chr3 | 50364410 | ||||||
| chr3:50364540 | C | A | 1 | a0001c0001t0030 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*126G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 126 | chr3 | 50364540 | ||||||
| chr3:50503464 | TGGCGGC | T | 6 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show |
24 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(21): Show |
5_prime_UTR_variant | MODIFIER | c.-47_-42delGCCGCC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 42 | chr3 | 50503464 | ||||||
| chr3:50503489 | G | T | 1 | a0001c0001t0031 | 1 | HG01257.hp2 | 5_prime_UTR_variant | MODIFIER | c.-66C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 66 | chr3 | 50503489 | ||||||
| chr3:50503491 | T | G | 1 | a0001c0001t0031 | 1 | HG01257.hp2 | 5_prime_UTR_variant | MODIFIER | c.-68A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 68 | chr3 | 50503491 | ||||||
| chr3:50503492 | G | C | 2 | a0001c0001t0013 a0001c0002t0013 |
2 | HG02280.hp1 HG03195.hp1 |
5_prime_UTR_variant | MODIFIER | c.-69C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 69 | chr3 | 50503492 | ||||||
| chr3:50503494 | G | A | 1 | a0001c0001t0014 | 2 | NA18967.hp1 NA18999.hp1 |
5_prime_UTR_variant | MODIFIER | c.-71C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 71 | chr3 | 50503494 | ||||||
| chr3:50503592 | C | T | 3 | a0003c0004t0008 a0003c0010t0015 a0003c0011t0008 |
5 | HG01934.hp1 HG02723.hp2 HG02886.hp2 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-169G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 169 | chr3 | 50503592 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr3:50364832 | C | T | 1 | a0001c0001t0020g0154 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3292-26G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 37/37 | chr3 | 50364832 | |||||||
| chr3:50364878 | C | G | 24 | a0001c0001t0004g0046 a0001c0001t0004g0092 a0001c0001t0004g0094 others(21): Show |
24 | HG00099.hp2 HG00323.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.3291+10G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 37/37 | chr3 | 50364878 | |||||||
| chr3:50365192 | C | A | 2 | a0001c0001t0005g0022 a0001c0001t0031g0230 |
2 | HG01175.hp2 HG01257.hp2 |
splice_region_variant&intron_variant | LOW | c.3099-8G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 35/37 | chr3 | 50365192 | |||||||
| chr3:50365249 | G | A | 2 | a0001c0001t0001g0158 a0001c0001t0001g0159 |
2 | HG03041.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.3099-65C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 35/37 | chr3 | 50365249 | |||||||
| chr3:50365877 | G | A | 1 | a0001c0001t0001g0102 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2863-15C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 32/37 | chr3 | 50365877 | |||||||
| chr3:50365881 | C | T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2863-19G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 32/37 | chr3 | 50365881 | |||||||
| chr3:50365898 | G | A | 1 | a0003c0004t0008g0004 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2863-36C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 32/37 | chr3 | 50365898 | |||||||
| chr3:50367133 | G | C | 1 | a0001c0001t0001g0102 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2402-24C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 27/37 | chr3 | 50367133 | |||||||
| chr3:50367501 | G | A | 1 | a0001c0001t0002g0191 | 1 | NA18947.hp1 | splice_region_variant&intron_variant | LOW | c.2298-4C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 26/37 | chr3 | 50367501 | |||||||
| chr3:50367553 | G | A | 1 | a0001c0001t0002g0065 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2298-56C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 26/37 | chr3 | 50367553 | |||||||
| chr3:50367959 | C | A | 1 | a0001c0001t0001g0160 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2144-57G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 24/37 | chr3 | 50367959 | |||||||
| chr3:50367959 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2144-57G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 24/37 | chr3 | 50367959 | |||||||
| chr3:50368062 | G | A | 1 | a0001c0001t0004g0161 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2143+76C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 24/37 | chr3 | 50368062 | |||||||
| chr3:50368421 | A | T | 1 | a0001c0001t0002g0063 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2046-186T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50368421 | |||||||
| chr3:50368494 | C | T | 15 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(12): Show |
15 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(12): Show |
intron_variant | MODIFIER | c.2046-259G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50368494 | |||||||
| chr3:50368627 | C | T | 21 | a0001c0001t0004g0046 a0001c0001t0004g0092 a0001c0001t0004g0094 others(18): Show |
21 | HG00099.hp2 HG00323.hp2 HG01071.hp2 others(18): Show |
intron_variant | MODIFIER | c.2046-392G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50368627 | |||||||
| chr3:50368659 | C | T | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.2046-424G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50368659 | |||||||
| chr3:50368869 | G | A | 1 | a0001c0001t0001g0153 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2046-634C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50368869 | |||||||
| chr3:50369255 | G | A | 3 | a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0031g0230 |
3 | HG01175.hp2 HG01257.hp2 HG01934.hp2 |
intron_variant | MODIFIER | c.2046-1020C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369255 | |||||||
| chr3:50369268 | TTCAC | T | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.2046-1037_2046-103 others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369268 | |||||||
| chr3:50369283 | C | T | 1 | a0001c0001t0001g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2045+1037G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369283 | |||||||
| chr3:50369358 | T | C | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.2045+962A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369358 | |||||||
| chr3:50369500 | C | T | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2045+820G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369500 | |||||||
| chr3:50369516 | A | C | 2 | a0001c0001t0007g0026 a0001c0001t0007g0027 |
2 | NA18966.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2045+804T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369516 | |||||||
| chr3:50369654 | C | T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2045+666G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369654 | |||||||
| chr3:50369713 | G | A | 2 | a0002c0003t0003g0035 a0002c0003t0003g0036 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2045+607C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369713 | |||||||
| chr3:50369771 | C | A | 1 | a0001c0001t0001g0142 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.2045+549G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369771 | |||||||
| chr3:50369815 | C | A | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2045+505G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369815 | |||||||
| chr3:50369825 | A | C | 73 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(70): Show |
73 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.2045+495T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369825 | |||||||
| chr3:50369854 | C | A | 2 | a0001c0002t0001g0222 a0001c0002t0001g0223 |
2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.2045+466G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369854 | |||||||
| chr3:50369865 | C | T | 1 | a0001c0001t0011g0212 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.2045+455G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369865 | |||||||
| chr3:50369913 | C | A | 22 | a0001c0001t0004g0046 a0001c0001t0004g0092 a0001c0001t0004g0094 others(19): Show |
22 | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(19): Show |
intron_variant | MODIFIER | c.2045+407G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369913 | |||||||
| chr3:50369930 | TG | T | 28 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(25): Show |
28 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.2045+389delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369930 | |||||||
| chr3:50369937 | C | T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2045+383G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50369937 | |||||||
| chr3:50370185 | C | T | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.2045+135G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 23/37 | chr3 | 50370185 | |||||||
| chr3:50370554 | A | C | 1 | a0001c0001t0004g0046 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1985-174T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50370554 | |||||||
| chr3:50370742 | A | G | 1 | a0001c0002t0001g0039 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1985-362T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50370742 | |||||||
| chr3:50370898 | T | A | 1 | a0001c0001t0001g0202 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1985-518A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50370898 | |||||||
| chr3:50370967 | C | T | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.1985-587G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50370967 | |||||||
| chr3:50371030 | C | T | 1 | a0001c0002t0001g0146 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1985-650G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371030 | |||||||
| chr3:50371306 | T | C | 1 | a0001c0001t0007g0023 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1985-926A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371306 | |||||||
| chr3:50371346 | A | ATG | 81 | a0001c0001t0001g0122 a0001c0001t0001g0205 a0001c0001t0002g0043 others(78): Show |
81 | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(78): Show |
intron_variant | MODIFIER | c.1985-968_1985-967d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371346 | |||||||
| chr3:50371346 | A | ATGTG | 4 | a0001c0001t0002g0069 a0001c0001t0002g0191 a0001c0001t0005g0025 others(1): Show |
4 | HG01255.hp1 HG02818.hp1 HG04228.hp1 others(1): Show |
intron_variant | MODIFIER | c.1985-970_1985-967d others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371346 | |||||||
| chr3:50371346 | ATGTGTG | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1985-972_1985-967d others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371346 | |||||||
| chr3:50371424 | G | A | 28 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(25): Show |
28 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.1985-1044C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371424 | |||||||
| chr3:50371461 | A | T | 1 | a0002c0003t0025g0168 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1985-1081T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371461 | |||||||
| chr3:50371651 | G | A | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1985-1271C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371651 | |||||||
| chr3:50371702 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1985-1322G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371702 | |||||||
| chr3:50371728 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1985-1348C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371728 | |||||||
| chr3:50371759 | G | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1985-1379C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371759 | |||||||
| chr3:50371877 | C | T | 1 | a0001c0001t0005g0025 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1985-1497G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371877 | |||||||
| chr3:50371878 | G | A | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1985-1498C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371878 | |||||||
| chr3:50371907 | C | CA | 55 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(52): Show |
55 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.1985-1528dupT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50371907 | |||||||
| chr3:50372201 | C | A | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.1985-1821G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372201 | |||||||
| chr3:50372395 | A | G | 131 | a0001c0001t0001g0040 a0001c0001t0001g0122 a0001c0001t0001g0149 others(128): Show |
131 | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(128): Show |
intron_variant | MODIFIER | c.1985-2015T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372395 | |||||||
| chr3:50372406 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.1985-2026G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372406 | |||||||
| chr3:50372416 | C | T | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1985-2036G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372416 | |||||||
| chr3:50372610 | G | A | 55 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(52): Show |
55 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.1984+2127C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372610 | |||||||
| chr3:50372678 | C | T | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1984+2059G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372678 | |||||||
| chr3:50372718 | G | A | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.1984+2019C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372718 | |||||||
| chr3:50372774 | G | T | 1 | a0001c0001t0018g0077 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1984+1963C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372774 | |||||||
| chr3:50372814 | A | C | 1 | a0001c0001t0001g0162 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1984+1923T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372814 | |||||||
| chr3:50372893 | T | C | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.1984+1844A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50372893 | |||||||
| chr3:50373137 | A | C | 1 | a0001c0002t0001g0147 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1984+1600T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373137 | |||||||
| chr3:50373147 | A | C | 1 | a0001c0002t0001g0147 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1984+1590T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373147 | |||||||
| chr3:50373196 | T | C | 1 | a0001c0001t0018g0077 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1984+1541A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373196 | |||||||
| chr3:50373263 | A | G | 1 | a0001c0001t0005g0014 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1984+1474T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373263 | |||||||
| chr3:50373267 | G | A | 1 | a0001c0001t0002g0184 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.1984+1470C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373267 | |||||||
| chr3:50373275 | G | A | 1 | a0001c0001t0004g0161 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1984+1462C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373275 | |||||||
| chr3:50373285 | G | A | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.1984+1452C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373285 | |||||||
| chr3:50373439 | A | G | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1984+1298T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373439 | |||||||
| chr3:50373515 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1984+1222C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373515 | |||||||
| chr3:50373591 | G | A | 2 | a0001c0001t0007g0018 a0001c0001t0007g0023 |
2 | NA18612.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.1984+1146C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373591 | |||||||
| chr3:50373617 | AG | A | 31 | a0001c0001t0001g0114 a0001c0001t0005g0025 a0001c0001t0009g0209 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.1984+1119delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373617 | |||||||
| chr3:50373619 | G | T | 3 | a0001c0001t0004g0151 a0001c0001t0004g0211 a0001c0001t0005g0014 |
3 | NA18986.hp2 NA19005.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.1984+1118C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373619 | |||||||
| chr3:50373620 | G | A | 1 | a0002c0003t0003g0175 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1984+1117C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373620 | |||||||
| chr3:50373620 | G | C | 1 | a0001c0001t0002g0074 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.1984+1117C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373620 | |||||||
| chr3:50373624 | G | C | 2 | a0001c0001t0002g0047 a0001c0001t0002g0048 |
2 | HG01081.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.1984+1113C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373624 | |||||||
| chr3:50373738 | G | A | 2 | a0001c0001t0001g0041 a0001c0001t0001g0171 |
2 | HG02280.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1984+999C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373738 | |||||||
| chr3:50373757 | C | T | 30 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(27): Show |
30 | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(27): Show |
intron_variant | MODIFIER | c.1984+980G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373757 | |||||||
| chr3:50373824 | A | C | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1984+913T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373824 | |||||||
| chr3:50373903 | G | T | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1984+834C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373903 | |||||||
| chr3:50373949 | G | A | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1984+788C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373949 | |||||||
| chr3:50373996 | A | T | 2 | a0001c0001t0001g0041 a0001c0001t0001g0171 |
2 | HG02280.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1984+741T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373996 | |||||||
| chr3:50373996 | AG | A | 55 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(52): Show |
55 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
intron_variant | MODIFIER | c.1984+740delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50373996 | |||||||
| chr3:50374012 | G | A | 1 | a0001c0001t0001g0160 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1984+725C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374012 | |||||||
| chr3:50374107 | G | C | 28 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(25): Show |
28 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(25): Show |
intron_variant | MODIFIER | c.1984+630C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374107 | |||||||
| chr3:50374122 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+615C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374122 | |||||||
| chr3:50374144 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+593T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374144 | |||||||
| chr3:50374146 | T | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+591A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374146 | |||||||
| chr3:50374159 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+578C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374159 | |||||||
| chr3:50374161 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+576T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374161 | |||||||
| chr3:50374163 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+574T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374163 | |||||||
| chr3:50374165 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+572C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374165 | |||||||
| chr3:50374166 | T | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+571A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374166 | |||||||
| chr3:50374168 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+569T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374168 | |||||||
| chr3:50374180 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+557T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374180 | |||||||
| chr3:50374193 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+544T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374193 | |||||||
| chr3:50374194 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+543C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374194 | |||||||
| chr3:50374198 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+539T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374198 | |||||||
| chr3:50374216 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+521T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374216 | |||||||
| chr3:50374221 | AG | A | 5 | a0001c0001t0001g0217 a0001c0002t0001g0083 a0001c0002t0001g0085 others(2): Show |
5 | HG02486.hp1 HG02559.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.1984+515delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374221 | |||||||
| chr3:50374253 | G | A | 1 | a0001c0001t0009g0208 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1984+484C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374253 | |||||||
| chr3:50374280 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+457C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374280 | |||||||
| chr3:50374281 | A | G | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+456T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374281 | |||||||
| chr3:50374282 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1984+455C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374282 | |||||||
| chr3:50374313 | G | C | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1984+424C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374313 | |||||||
| chr3:50374409 | A | T | 1 | a0001c0001t0002g0229 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1984+328T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374409 | |||||||
| chr3:50374415 | G | T | 2 | a0001c0001t0001g0041 a0001c0001t0001g0171 |
2 | HG02280.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1984+322C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374415 | |||||||
| chr3:50374416 | G | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1984+321C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | 50374416 | |||||||
| chr3:50374868 | C | T | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.1908-55G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50374868 | |||||||
| chr3:50375166 | G | T | 1 | a0002c0003t0025g0168 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1908-353C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375166 | |||||||
| chr3:50375240 | A | AG | 6 | a0001c0001t0001g0112 a0001c0001t0001g0132 a0001c0001t0001g0200 others(3): Show |
6 | HG01255.hp2 HG01496.hp2 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.1907+403dupC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375240 | |||||||
| chr3:50375281 | C | A | 1 | a0001c0001t0005g0016 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1907+363G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375281 | |||||||
| chr3:50375281 | C | T | 9 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 others(6): Show |
9 | HG01081.hp2 HG01192.hp2 HG01255.hp1 others(6): Show |
intron_variant | MODIFIER | c.1907+363G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375281 | |||||||
| chr3:50375366 | T | C | 104 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(101): Show |
104 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(101): Show |
intron_variant | MODIFIER | c.1907+278A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375366 | |||||||
| chr3:50375379 | T | A | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1907+265A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375379 | |||||||
| chr3:50375514 | A | G | 22 | a0001c0001t0004g0046 a0001c0001t0004g0092 a0001c0001t0004g0094 others(19): Show |
22 | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(19): Show |
intron_variant | MODIFIER | c.1907+130T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375514 | |||||||
| chr3:50375578 | G | A | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1907+66C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 21/37 | chr3 | 50375578 | |||||||
| chr3:50375937 | C | G | 1 | a0001c0002t0006g0013 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1773+26G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 19/37 | chr3 | 50375937 | |||||||
| chr3:50376276 | C | T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1627-88G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50376276 | |||||||
| chr3:50376340 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1627-152G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50376340 | |||||||
| chr3:50376705 | C | T | 1 | a0001c0001t0002g0229 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1627-517G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50376705 | |||||||
| chr3:50376843 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1626+624G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50376843 | |||||||
| chr3:50376973 | C | T | 53 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(50): Show |
53 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(50): Show |
intron_variant | MODIFIER | c.1626+494G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50376973 | |||||||
| chr3:50377189 | T | C | 29 | a0001c0001t0001g0122 a0001c0002t0001g0033 a0001c0002t0001g0034 others(26): Show |
29 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(26): Show |
intron_variant | MODIFIER | c.1626+278A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50377189 | |||||||
| chr3:50377224 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1626+243G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50377224 | |||||||
| chr3:50377303 | G | A | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1626+164C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50377303 | |||||||
| chr3:50377314 | C | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1626+153G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50377314 | |||||||
| chr3:50377366 | G | A | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.1626+101C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50377366 | |||||||
| chr3:50377444 | C | T | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.1626+23G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 17/37 | chr3 | 50377444 | |||||||
| chr3:50377549 | C | G | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | splice_region_variant&intron_variant | LOW | c.1552-8G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 16/37 | chr3 | 50377549 | |||||||
| chr3:50377834 | T | A | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1480-31A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 15/37 | chr3 | 50377834 | |||||||
| chr3:50378106 | G | T | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1390-9C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 14/37 | chr3 | 50378106 | |||||||
| chr3:50378115 | G | T | 1 | a0001c0002t0001g0221 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1390-18C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 14/37 | chr3 | 50378115 | |||||||
| chr3:50378116 | T | G | 1 | a0001c0002t0001g0221 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1390-19A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 14/37 | chr3 | 50378116 | |||||||
| chr3:50378141 | G | A | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1390-44C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 14/37 | chr3 | 50378141 | |||||||
| chr3:50378211 | A | C | 72 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(69): Show |
72 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(69): Show |
intron_variant | MODIFIER | c.1389+73T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 14/37 | chr3 | 50378211 | |||||||
| chr3:50378429 | C | T | 1 | a0001c0001t0004g0092 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1340-96G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 13/37 | chr3 | 50378429 | |||||||
| chr3:50378571 | C | G | 1 | a0001c0001t0007g0011 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1340-238G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 13/37 | chr3 | 50378571 | |||||||
| chr3:50378657 | G | A | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1339+258C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 13/37 | chr3 | 50378657 | |||||||
| chr3:50378750 | G | A | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.1339+165C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 13/37 | chr3 | 50378750 | |||||||
| chr3:50378808 | G | A | 1 | a0001c0001t0016g0020 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.1339+107C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 13/37 | chr3 | 50378808 | |||||||
| chr3:50378856 | C | T | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.1339+59G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 13/37 | chr3 | 50378856 | |||||||
| chr3:50379070 | C | T | 3 | a0001c0001t0001g0102 a0001c0001t0001g0183 a0001c0001t0001g0219 |
3 | HG01169.hp1 HG01257.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.1260+22G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 12/37 | chr3 | 50379070 | |||||||
| chr3:50379293 | C | A | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.1153-94G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 11/37 | chr3 | 50379293 | |||||||
| chr3:50379630 | C | T | 3 | a0001c0001t0022g0097 a0004c0005t0010g0028 a0004c0005t0010g0029 |
3 | HG02572.hp2 HG02922.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.994-40G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 10/37 | chr3 | 50379630 | |||||||
| chr3:50379870 | C | T | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.894-46G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 9/37 | chr3 | 50379870 | |||||||
| chr3:50379934 | G | C | 1 | a0001c0001t0002g0215 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.893+34C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 9/37 | chr3 | 50379934 | |||||||
| chr3:50380221 | G | C | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.843-203C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 8/37 | chr3 | 50380221 | |||||||
| chr3:50380247 | C | T | 56 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(53): Show |
56 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(53): Show |
intron_variant | MODIFIER | c.843-229G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 8/37 | chr3 | 50380247 | |||||||
| chr3:50380254 | T | A | 2 | a0001c0001t0001g0102 a0001c0001t0001g0183 |
2 | HG01257.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.843-236A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 8/37 | chr3 | 50380254 | |||||||
| chr3:50380549 | G | C | 1 | a0003c0004t0008g0004 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.842+199C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 8/37 | chr3 | 50380549 | |||||||
| chr3:50380613 | C | T | 1 | a0001c0001t0002g0058 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.842+135G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 8/37 | chr3 | 50380613 | |||||||
| chr3:50381441 | TC | T | 2 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | HG02735.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.653-316delG | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381441 | |||||||
| chr3:50381442 | C | G | 100 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0047 others(97): Show |
100 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(97): Show |
intron_variant | MODIFIER | c.653-316G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381442 | |||||||
| chr3:50381649 | G | C | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.653-523C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381649 | |||||||
| chr3:50381726 | C | T | 6 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0111 others(3): Show |
6 | HG02055.hp1 HG02145.hp1 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.653-600G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381726 | |||||||
| chr3:50381917 | C | T | 27 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(24): Show |
27 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(24): Show |
intron_variant | MODIFIER | c.653-791G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381917 | |||||||
| chr3:50381938 | C | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.653-812G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381938 | |||||||
| chr3:50381981 | T | TAC | 44 | a0001c0001t0001g0041 a0001c0001t0001g0128 a0001c0001t0001g0133 others(41): Show |
44 | HG00099.hp2 HG00408.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.653-857_653-856dup others(2): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | T | TACAC | 40 | a0001c0001t0001g0096 a0001c0001t0002g0060 a0001c0001t0002g0101 others(37): Show |
40 | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.653-859_653-856dup others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | T | TACACAC | 14 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(11): Show |
14 | HG01074.hp1 HG01081.hp2 HG01192.hp2 others(11): Show |
intron_variant | MODIFIER | c.653-861_653-856dup others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | T | TACACACA others(1): Show |
15 | a0001c0002t0001g0034 a0001c0002t0001g0079 a0001c0002t0001g0083 others(12): Show |
15 | HG01934.hp1 HG02055.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.653-863_653-856dup others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | T | TACACACA others(3): Show |
1 | a0002c0003t0025g0168 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.653-865_653-856dup others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | TAC | T | 78 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0080 others(75): Show |
78 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(75): Show |
intron_variant | MODIFIER | c.653-857_653-856del others(2): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | TACAC | T | 8 | a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 others(5): Show |
8 | HG00408.hp1 HG02145.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.653-859_653-856del others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50381981 | TACACAC | T | 5 | a0001c0001t0001g0104 a0001c0001t0001g0199 a0001c0001t0001g0200 others(2): Show |
5 | HG00673.hp1 HG01074.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.653-861_653-856del others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50381981 | |||||||
| chr3:50382023 | A | C | 1 | a0001c0001t0002g0066 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.653-897T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382023 | |||||||
| chr3:50382208 | G | A | 1 | a0006c0006t0002g0192 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.653-1082C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382208 | |||||||
| chr3:50382314 | C | T | 1 | a0001c0001t0001g0135 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.653-1188G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382314 | |||||||
| chr3:50382410 | G | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.653-1284C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382410 | |||||||
| chr3:50382614 | T | C | 1 | a0001c0001t0001g0135 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.653-1488A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382614 | |||||||
| chr3:50382888 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.652+1308C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382888 | |||||||
| chr3:50382913 | C | T | 3 | a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0210 |
3 | NA18941.hp2 NA18942.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.652+1283G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50382913 | |||||||
| chr3:50383093 | A | C | 1 | a0001c0001t0001g0213 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.652+1103T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383093 | |||||||
| chr3:50383123 | C | A | 77 | a0001c0001t0001g0133 a0001c0001t0002g0043 a0001c0001t0002g0044 others(74): Show |
77 | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(74): Show |
intron_variant | MODIFIER | c.652+1073G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383123 | |||||||
| chr3:50383349 | C | G | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.652+847G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383349 | |||||||
| chr3:50383392 | A | C | 1 | a0001c0001t0005g0016 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.652+804T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383392 | |||||||
| chr3:50383458 | T | C | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.652+738A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383458 | |||||||
| chr3:50383647 | T | G | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.652+549A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383647 | |||||||
| chr3:50383650 | T | C | 137 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(134): Show |
137 | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(134): Show |
intron_variant | MODIFIER | c.652+546A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50383650 | |||||||
| chr3:50384057 | C | T | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.652+139G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | 50384057 | |||||||
| chr3:50384549 | C | T | 5 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(2): Show |
5 | HG02735.hp1 NA18945.hp2 NA19012.hp1 others(2): Show |
intron_variant | MODIFIER | c.511-212G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50384549 | |||||||
| chr3:50384931 | C | T | 1 | a0003c0010t0015g0003 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.511-594G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50384931 | |||||||
| chr3:50385150 | T | C | 3 | a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0211 |
3 | NA18986.hp2 NA19010.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.511-813A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385150 | |||||||
| chr3:50385287 | C | G | 88 | a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0105 others(85): Show |
88 | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(85): Show |
intron_variant | MODIFIER | c.511-950G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385287 | |||||||
| chr3:50385504 | T | C | 16 | a0001c0002t0001g0090 a0002c0003t0003g0032 a0002c0003t0003g0035 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.511-1167A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385504 | |||||||
| chr3:50385508 | T | G | 1 | a0001c0002t0001g0111 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.511-1171A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385508 | |||||||
| chr3:50385546 | G | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.511-1209C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385546 | |||||||
| chr3:50385597 | CTT | C | 33 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0102 others(30): Show |
33 | HG00099.hp1 HG00323.hp1 HG00609.hp1 others(30): Show |
intron_variant | MODIFIER | c.511-1262_511-1261d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385597 | |||||||
| chr3:50385897 | T | C | 18 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(15): Show |
18 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.511-1560A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50385897 | |||||||
| chr3:50386019 | A | G | 1 | a0001c0001t0002g0051 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.510+1549T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386019 | |||||||
| chr3:50386024 | T | C | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.510+1544A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386024 | |||||||
| chr3:50386178 | C | T | 11 | a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0057 others(8): Show |
11 | HG00438.hp1 HG00673.hp2 HG01952.hp2 others(8): Show |
intron_variant | MODIFIER | c.510+1390G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386178 | |||||||
| chr3:50386211 | G | A | 1 | a0005c0008t0001g0116 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.510+1357C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386211 | |||||||
| chr3:50386267 | T | A | 2 | a0001c0001t0002g0187 a0001c0001t0002g0193 |
2 | NA18967.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.510+1301A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386267 | |||||||
| chr3:50386575 | G | A | 12 | a0002c0003t0003g0032 a0002c0003t0003g0169 a0002c0003t0003g0170 others(9): Show |
12 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.510+993C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386575 | |||||||
| chr3:50386751 | G | T | 58 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(55): Show |
58 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(55): Show |
intron_variant | MODIFIER | c.510+817C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386751 | |||||||
| chr3:50386811 | T | C | 1 | a0001c0001t0002g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.510+757A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386811 | |||||||
| chr3:50386899 | C | T | 3 | a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0066 |
3 | HG00408.hp2 NA19007.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.510+669G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50386899 | |||||||
| chr3:50387012 | G | A | 1 | a0005c0008t0001g0116 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.510+556C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387012 | |||||||
| chr3:50387315 | C | CAAGTTT | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.510+252_510+253ins others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387315 | |||||||
| chr3:50387316 | C | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.510+252G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387316 | |||||||
| chr3:50387317 | C | G | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.510+251G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387317 | |||||||
| chr3:50387383 | A | G | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.510+185T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387383 | |||||||
| chr3:50387529 | G | A | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.510+39C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387529 | |||||||
| chr3:50387545 | G | A | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.510+23C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | 50387545 | |||||||
| chr3:50387656 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.466-44G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50387656 | |||||||
| chr3:50387693 | G | A | 2 | a0001c0001t0001g0041 a0003c0011t0008g0001 |
2 | HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.466-81C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50387693 | |||||||
| chr3:50387746 | C | A | 118 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(115): Show |
118 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.466-134G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50387746 | |||||||
| chr3:50387813 | A | G | 1 | a0001c0001t0004g0151 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.466-201T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50387813 | |||||||
| chr3:50387824 | G | A | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.466-212C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50387824 | |||||||
| chr3:50388244 | G | A | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.466-632C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50388244 | |||||||
| chr3:50388269 | G | T | 1 | a0005c0008t0001g0116 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.466-657C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50388269 | |||||||
| chr3:50388472 | G | A | 1 | a0001c0001t0009g0209 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.466-860C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50388472 | |||||||
| chr3:50388638 | C | T | 1 | a0001c0001t0005g0016 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.466-1026G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50388638 | |||||||
| chr3:50388763 | G | A | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.466-1151C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50388763 | |||||||
| chr3:50388953 | C | G | 1 | a0001c0001t0001g0137 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.466-1341G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50388953 | |||||||
| chr3:50389209 | C | T | 1 | a0001c0002t0001g0182 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.466-1597G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50389209 | |||||||
| chr3:50389279 | C | T | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.466-1667G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50389279 | |||||||
| chr3:50389599 | G | A | 1 | a0001c0001t0001g0093 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.466-1987C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50389599 | |||||||
| chr3:50389679 | T | G | 1 | a0001c0001t0004g0161 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.466-2067A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50389679 | |||||||
| chr3:50389980 | A | G | 1 | a0001c0001t0005g0014 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.466-2368T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50389980 | |||||||
| chr3:50390049 | C | T | 2 | a0001c0001t0001g0171 a0001c0001t0002g0101 |
2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.466-2437G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390049 | |||||||
| chr3:50390184 | C | T | 2 | a0001c0002t0001g0083 a0001c0002t0001g0087 |
2 | HG02486.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.466-2572G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390184 | |||||||
| chr3:50390185 | G | A | 7 | a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0134 others(4): Show |
7 | HG01081.hp1 HG01255.hp2 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.466-2573C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390185 | |||||||
| chr3:50390418 | G | C | 5 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(2): Show |
5 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.466-2806C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390418 | |||||||
| chr3:50390614 | G | A | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.466-3002C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390614 | |||||||
| chr3:50390707 | G | A | 23 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.466-3095C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390707 | |||||||
| chr3:50390717 | G | A | 2 | a0001c0001t0001g0135 a0001c0001t0001g0225 |
2 | HG03017.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.466-3105C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390717 | |||||||
| chr3:50390777 | G | A | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.466-3165C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390777 | |||||||
| chr3:50390960 | G | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0001g0227 others(4): Show |
7 | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.465+3149C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50390960 | |||||||
| chr3:50391047 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.465+3062C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391047 | |||||||
| chr3:50391061 | C | G | 1 | a0001c0001t0001g0082 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.465+3048G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391061 | |||||||
| chr3:50391335 | C | A | 76 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(73): Show |
76 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.465+2774G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391335 | |||||||
| chr3:50391668 | C | G | 2 | a0001c0001t0001g0227 a0001c0007t0001g0050 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.465+2441G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391668 | |||||||
| chr3:50391851 | C | G | 66 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(63): Show |
66 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(63): Show |
intron_variant | MODIFIER | c.465+2258G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391851 | |||||||
| chr3:50391929 | G | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0001g0227 others(4): Show |
7 | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.465+2180C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391929 | |||||||
| chr3:50391943 | T | C | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.465+2166A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50391943 | |||||||
| chr3:50392065 | C | T | 1 | a0001c0001t0002g0067 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.465+2044G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50392065 | |||||||
| chr3:50392271 | G | A | 1 | a0001c0001t0001g0158 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.465+1838C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50392271 | |||||||
| chr3:50392445 | G | A | 89 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(86): Show |
89 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(86): Show |
intron_variant | MODIFIER | c.465+1664C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50392445 | |||||||
| chr3:50392491 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.465+1618C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50392491 | |||||||
| chr3:50392973 | G | C | 1 | a0004c0005t0010g0028 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.465+1136C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50392973 | |||||||
| chr3:50393009 | G | A | 7 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0001g0227 others(4): Show |
7 | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.465+1100C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393009 | |||||||
| chr3:50393047 | G | A | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.465+1062C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393047 | |||||||
| chr3:50393055 | A | T | 1 | a0001c0001t0002g0101 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.465+1054T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393055 | |||||||
| chr3:50393154 | T | C | 1 | a0001c0001t0001g0104 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.465+955A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393154 | |||||||
| chr3:50393477 | T | C | 1 | a0001c0001t0001g0106 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.465+632A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393477 | |||||||
| chr3:50393595 | C | T | 1 | a0001c0001t0005g0024 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.465+514G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393595 | |||||||
| chr3:50393711 | A | G | 118 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(115): Show |
118 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.465+398T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393711 | |||||||
| chr3:50393763 | T | C | 90 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(87): Show |
90 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(87): Show |
intron_variant | MODIFIER | c.465+346A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393763 | |||||||
| chr3:50393827 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.465+282G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393827 | |||||||
| chr3:50393979 | C | G | 118 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(115): Show |
118 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.465+130G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 4/37 | chr3 | 50393979 | |||||||
| chr3:50394229 | C | G | 1 | a0001c0001t0004g0161 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.406-61G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394229 | |||||||
| chr3:50394432 | G | C | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.406-264C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394432 | |||||||
| chr3:50394564 | A | C | 118 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(115): Show |
118 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.406-396T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394564 | |||||||
| chr3:50394632 | C | T | 1 | a0001c0001t0002g0190 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.406-464G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394632 | |||||||
| chr3:50394907 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.406-739C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394907 | |||||||
| chr3:50394937 | G | A | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.406-769C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394937 | |||||||
| chr3:50394985 | C | T | 1 | a0001c0001t0001g0149 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.406-817G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394985 | |||||||
| chr3:50394986 | G | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.406-818C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50394986 | |||||||
| chr3:50395105 | G | T | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.406-937C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50395105 | |||||||
| chr3:50395455 | G | T | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.406-1287C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50395455 | |||||||
| chr3:50395465 | C | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.406-1297G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50395465 | |||||||
| chr3:50395547 | G | A | 1 | a0001c0001t0002g0197 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.406-1379C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50395547 | |||||||
| chr3:50395565 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.406-1397G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50395565 | |||||||
| chr3:50395674 | G | A | 1 | a0001c0001t0002g0120 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.406-1506C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50395674 | |||||||
| chr3:50396316 | C | T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.406-2148G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396316 | |||||||
| chr3:50396374 | G | T | 2 | a0001c0001t0001g0041 a0003c0011t0008g0001 |
2 | HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.406-2206C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396374 | |||||||
| chr3:50396458 | G | A | 1 | a0001c0001t0002g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.406-2290C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396458 | |||||||
| chr3:50396530 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.406-2362C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396530 | |||||||
| chr3:50396536 | G | C | 117 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(114): Show |
117 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.406-2368C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396536 | |||||||
| chr3:50396651 | G | A | 1 | a0005c0008t0001g0116 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.406-2483C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396651 | |||||||
| chr3:50396698 | GGAGGCTG others(13): Show |
G | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.406-2550_406-2531d others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396698 | |||||||
| chr3:50396824 | T | C | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.406-2656A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50396824 | |||||||
| chr3:50397102 | G | C | 1 | a0001c0001t0002g0190 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.406-2934C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50397102 | |||||||
| chr3:50397425 | G | C | 1 | a0001c0002t0001g0224 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.406-3257C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50397425 | |||||||
| chr3:50397553 | T | C | 59 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(56): Show |
59 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.406-3385A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50397553 | |||||||
| chr3:50397884 | C | G | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.406-3716G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50397884 | |||||||
| chr3:50397889 | C | A | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.406-3721G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50397889 | |||||||
| chr3:50397997 | G | C | 1 | a0004c0005t0010g0028 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.406-3829C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50397997 | |||||||
| chr3:50398132 | C | T | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.406-3964G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50398132 | |||||||
| chr3:50398234 | G | A | 1 | a0001c0001t0001g0225 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.406-4066C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50398234 | |||||||
| chr3:50398401 | T | C | 2 | a0001c0001t0001g0132 a0001c0001t0001g0134 |
2 | HG01081.hp1 HG01255.hp2 |
intron_variant | MODIFIER | c.406-4233A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50398401 | |||||||
| chr3:50398554 | TCTGGC | T | 28 | a0001c0001t0022g0097 a0001c0002t0001g0079 a0001c0002t0001g0083 others(25): Show |
28 | HG01074.hp1 HG01243.hp1 HG02055.hp1 others(25): Show |
intron_variant | MODIFIER | c.406-4391_406-4387d others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50398554 | |||||||
| chr3:50398613 | A | G | 12 | a0002c0003t0003g0032 a0002c0003t0003g0169 a0002c0003t0003g0170 others(9): Show |
12 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.406-4445T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50398613 | |||||||
| chr3:50398749 | G | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.406-4581C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50398749 | |||||||
| chr3:50399025 | G | A | 2 | a0003c0004t0008g0004 a0003c0010t0015g0003 |
2 | HG01934.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.406-4857C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399025 | |||||||
| chr3:50399285 | C | T | 117 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(114): Show |
117 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.406-5117G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399285 | |||||||
| chr3:50399380 | G | C | 1 | a0001c0001t0002g0198 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.406-5212C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399380 | |||||||
| chr3:50399396 | T | C | 98 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(95): Show |
98 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(95): Show |
intron_variant | MODIFIER | c.406-5228A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399396 | |||||||
| chr3:50399715 | G | A | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.406-5547C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399715 | |||||||
| chr3:50399749 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.406-5581G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399749 | |||||||
| chr3:50399874 | G | C | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.406-5706C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50399874 | |||||||
| chr3:50400242 | G | T | 5 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(2): Show |
5 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.406-6074C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50400242 | |||||||
| chr3:50400254 | G | A | 1 | a0001c0001t0030g0155 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.406-6086C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50400254 | |||||||
| chr3:50400628 | C | T | 1 | a0001c0001t0001g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.406-6460G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50400628 | |||||||
| chr3:50400642 | C | T | 2 | a0001c0001t0004g0094 a0001c0001t0004g0095 |
2 | HG00323.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.406-6474G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50400642 | |||||||
| chr3:50400978 | G | A | 1 | a0001c0001t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.406-6810C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50400978 | |||||||
| chr3:50400986 | G | A | 1 | a0001c0001t0001g0200 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.406-6818C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50400986 | |||||||
| chr3:50401238 | TA | T | 117 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(114): Show |
117 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.406-7071delT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50401238 | |||||||
| chr3:50401346 | C | T | 1 | a0001c0001t0001g0081 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.406-7178G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50401346 | |||||||
| chr3:50401362 | T | C | 165 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(162): Show |
165 | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.406-7194A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50401362 | |||||||
| chr3:50402111 | T | C | 1 | a0001c0001t0001g0133 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.406-7943A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402111 | |||||||
| chr3:50402577 | C | T | 1 | a0001c0001t0001g0114 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.406-8409G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402577 | |||||||
| chr3:50402598 | T | A | 1 | a0001c0001t0009g0210 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.406-8430A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402598 | |||||||
| chr3:50402853 | C | G | 2 | a0001c0001t0001g0118 a0001c0001t0013g0232 |
2 | HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.406-8685G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402853 | |||||||
| chr3:50402861 | T | C | 1 | a0002c0003t0012g0174 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.406-8693A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402861 | |||||||
| chr3:50402959 | G | C | 66 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(63): Show |
66 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(63): Show |
intron_variant | MODIFIER | c.406-8791C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402959 | |||||||
| chr3:50402962 | T | C | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.406-8794A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402962 | |||||||
| chr3:50402992 | G | C | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.406-8824C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402992 | |||||||
| chr3:50402995 | A | G | 118 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(115): Show |
118 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(115): Show |
intron_variant | MODIFIER | c.406-8827T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50402995 | |||||||
| chr3:50403059 | G | A | 15 | a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 others(12): Show |
15 | HG00438.hp2 HG00621.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.406-8891C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50403059 | |||||||
| chr3:50403121 | C | A | 5 | a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0137 others(2): Show |
5 | HG00280.hp1 HG01192.hp1 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.406-8953G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50403121 | |||||||
| chr3:50403232 | C | T | 2 | a0001c0001t0001g0075 a0001c0001t0001g0076 |
2 | NA19066.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.406-9064G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50403232 | |||||||
| chr3:50403905 | A | G | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.406-9737T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50403905 | |||||||
| chr3:50403967 | G | A | 3 | a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0211 |
3 | NA18986.hp2 NA19010.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.406-9799C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50403967 | |||||||
| chr3:50404140 | T | C | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.406-9972A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50404140 | |||||||
| chr3:50404180 | T | C | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.406-10012A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50404180 | |||||||
| chr3:50404182 | G | C | 66 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(63): Show |
66 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(63): Show |
intron_variant | MODIFIER | c.406-10014C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50404182 | |||||||
| chr3:50404196 | T | C | 117 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(114): Show |
117 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(114): Show |
intron_variant | MODIFIER | c.406-10028A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50404196 | |||||||
| chr3:50404878 | A | G | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.406-10710T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50404878 | |||||||
| chr3:50405005 | C | T | 1 | a0001c0001t0001g0123 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.406-10837G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405005 | |||||||
| chr3:50405064 | C | T | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.406-10896G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405064 | |||||||
| chr3:50405093 | G | T | 3 | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0060 |
3 | HG01952.hp2 HG02004.hp2 HG02273.hp2 |
intron_variant | MODIFIER | c.406-10925C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405093 | |||||||
| chr3:50405266 | G | A | 1 | a0001c0001t0001g0138 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.406-11098C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405266 | |||||||
| chr3:50405299 | G | A | 1 | a0001c0001t0002g0194 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.406-11131C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405299 | |||||||
| chr3:50405369 | G | T | 39 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0103 others(36): Show |
39 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.406-11201C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405369 | |||||||
| chr3:50405494 | T | C | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.406-11326A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405494 | |||||||
| chr3:50405707 | GACA | G | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.406-11542_406-1154 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405707 | |||||||
| chr3:50405898 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.406-11730C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405898 | |||||||
| chr3:50405910 | C | T | 1 | a0001c0001t0001g0125 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.406-11742G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405910 | |||||||
| chr3:50405938 | ACTCTGAC others(1444): Show |
A | 15 | a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 others(12): Show |
15 | HG00438.hp2 HG00621.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.406-13221_406-1177 others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50405938 | |||||||
| chr3:50406170 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.406-12002A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50406170 | |||||||
| chr3:50406456 | AC | A | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.406-12289delG | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50406456 | |||||||
| chr3:50406565 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.406-12397G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50406565 | |||||||
| chr3:50406613 | CCAT | C | 38 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0103 others(35): Show |
38 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(35): Show |
intron_variant | MODIFIER | c.406-12448_406-1244 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50406613 | |||||||
| chr3:50406776 | C | T | 1 | a0001c0001t0002g0068 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.406-12608G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50406776 | |||||||
| chr3:50407045 | T | C | 1 | a0001c0001t0001g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.406-12877A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407045 | |||||||
| chr3:50407244 | G | T | 1 | a0001c0001t0001g0143 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.406-13076C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407244 | |||||||
| chr3:50407274 | C | T | 3 | a0001c0001t0001g0227 a0001c0001t0019g0031 a0001c0007t0001g0050 |
3 | HG01884.hp1 HG02258.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.406-13106G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407274 | |||||||
| chr3:50407322 | T | C | 1 | a0001c0001t0030g0155 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.406-13154A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407322 | |||||||
| chr3:50407384 | C | T | 9 | a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0084 others(6): Show |
9 | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(6): Show |
intron_variant | MODIFIER | c.406-13216G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407384 | |||||||
| chr3:50407420 | C | T | 2 | a0001c0001t0001g0143 a0001c0001t0001g0219 |
2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.406-13252G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407420 | |||||||
| chr3:50407428 | A | AG | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.406-13261dupC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50407428 | |||||||
| chr3:50408245 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.406-14077C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50408245 | |||||||
| chr3:50408646 | G | C | 1 | a0001c0001t0002g0186 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.406-14478C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50408646 | |||||||
| chr3:50408717 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.406-14549C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50408717 | |||||||
| chr3:50408728 | C | T | 23 | a0001c0001t0022g0097 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.406-14560G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50408728 | |||||||
| chr3:50408820 | C | T | 1 | a0001c0001t0001g0139 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.406-14652G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50408820 | |||||||
| chr3:50408930 | C | A | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.406-14762G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50408930 | |||||||
| chr3:50409010 | G | A | 24 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(21): Show |
24 | HG01943.hp1 HG01975.hp1 HG01978.hp1 others(21): Show |
intron_variant | MODIFIER | c.406-14842C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50409010 | |||||||
| chr3:50409093 | G | C | 63 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(60): Show |
63 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.406-14925C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50409093 | |||||||
| chr3:50409804 | G | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.406-15636C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50409804 | |||||||
| chr3:50409864 | G | A | 33 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(30): Show |
33 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.406-15696C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50409864 | |||||||
| chr3:50410001 | TGAA | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.406-15836_406-1583 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410001 | |||||||
| chr3:50410355 | G | A | 1 | a0001c0001t0002g0198 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.406-16187C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410355 | |||||||
| chr3:50410480 | T | TG | 18 | a0001c0001t0001g0041 a0001c0001t0001g0098 a0001c0001t0001g0119 others(15): Show |
18 | HG00099.hp1 HG00597.hp2 HG02004.hp1 others(15): Show |
intron_variant | MODIFIER | c.406-16313dupC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410480 | |||||||
| chr3:50410480 | T | TGG | 17 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0078 others(14): Show |
17 | HG01167.hp2 HG01169.hp2 HG02451.hp2 others(14): Show |
intron_variant | MODIFIER | c.406-16314_406-1631 others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410480 | |||||||
| chr3:50410480 | TG | T | 71 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(68): Show |
71 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(68): Show |
intron_variant | MODIFIER | c.406-16313delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410480 | |||||||
| chr3:50410483 | G | C | 1 | a0001c0001t0001g0117 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.406-16315C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410483 | |||||||
| chr3:50410485 | G | A | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.406-16317C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410485 | |||||||
| chr3:50410488 | G | T | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.406-16320C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410488 | |||||||
| chr3:50410542 | G | A | 6 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0043 others(3): Show |
6 | HG02071.hp2 NA18942.hp1 NA18945.hp2 others(3): Show |
intron_variant | MODIFIER | c.406-16374C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410542 | |||||||
| chr3:50410663 | A | C | 3 | a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0023g0226 |
3 | HG02451.hp2 HG02818.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.406-16495T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50410663 | |||||||
| chr3:50411084 | C | G | 63 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(60): Show |
63 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.406-16916G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411084 | |||||||
| chr3:50411133 | T | C | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.406-16965A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411133 | |||||||
| chr3:50411175 | C | T | 1 | a0001c0001t0023g0226 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.406-17007G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411175 | |||||||
| chr3:50411201 | G | A | 63 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(60): Show |
63 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.406-17033C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411201 | |||||||
| chr3:50411235 | C | G | 1 | a0001c0001t0001g0181 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.406-17067G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411235 | |||||||
| chr3:50411347 | C | G | 33 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(30): Show |
33 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.406-17179G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411347 | |||||||
| chr3:50411353 | C | T | 1 | a0001c0001t0005g0021 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.406-17185G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411353 | |||||||
| chr3:50411516 | G | C | 2 | a0001c0001t0001g0102 a0001c0001t0001g0183 |
2 | HG01257.hp1 HG01496.hp1 |
intron_variant | MODIFIER | c.406-17348C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411516 | |||||||
| chr3:50411631 | C | G | 115 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(112): Show |
115 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.406-17463G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411631 | |||||||
| chr3:50411698 | G | A | 2 | a0001c0001t0001g0041 a0003c0011t0008g0001 |
2 | HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.406-17530C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411698 | |||||||
| chr3:50411721 | A | T | 1 | a0001c0001t0005g0021 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.406-17553T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411721 | |||||||
| chr3:50411837 | C | T | 1 | a0001c0001t0001g0040 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.406-17669G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50411837 | |||||||
| chr3:50412393 | C | T | 10 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
10 | HG02071.hp2 HG02280.hp2 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.406-18225G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50412393 | |||||||
| chr3:50412544 | C | CAA | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.406-18378_406-1837 others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50412544 | |||||||
| chr3:50412614 | G | A | 1 | a0001c0001t0001g0107 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.406-18446C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50412614 | |||||||
| chr3:50412873 | T | C | 2 | a0001c0001t0001g0132 a0001c0001t0001g0134 |
2 | HG01081.hp1 HG01255.hp2 |
intron_variant | MODIFIER | c.406-18705A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50412873 | |||||||
| chr3:50413203 | G | A | 1 | a0001c0001t0001g0160 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.406-19035C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50413203 | |||||||
| chr3:50413373 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.406-19205G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50413373 | |||||||
| chr3:50413668 | G | A | 2 | a0001c0001t0001g0225 a0001c0001t0001g0227 |
2 | HG03017.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.406-19500C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50413668 | |||||||
| chr3:50413715 | C | T | 10 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
10 | HG02071.hp2 HG02280.hp2 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.406-19547G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50413715 | |||||||
| chr3:50413849 | A | AAAATAAA others(5): Show |
116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.406-19693_406-1968 others(16): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50413849 | |||||||
| chr3:50414070 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.406-19902G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414070 | |||||||
| chr3:50414151 | T | G | 1 | a0002c0009t0003g0176 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.406-19983A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414151 | |||||||
| chr3:50414250 | C | T | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.405+20063G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414250 | |||||||
| chr3:50414694 | T | C | 3 | a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0064 |
3 | HG02015.hp1 NA18947.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.405+19619A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414694 | |||||||
| chr3:50414701 | C | T | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.405+19612G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414701 | |||||||
| chr3:50414805 | C | A | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.405+19508G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414805 | |||||||
| chr3:50414806 | G | A | 57 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(54): Show |
57 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.405+19507C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414806 | |||||||
| chr3:50414836 | C | T | 1 | a0001c0001t0005g0025 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.405+19477G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414836 | |||||||
| chr3:50414865 | G | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.405+19448C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414865 | |||||||
| chr3:50414951 | T | C | 1 | a0001c0001t0005g0016 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.405+19362A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50414951 | |||||||
| chr3:50415041 | C | A | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.405+19272G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415041 | |||||||
| chr3:50415086 | C | T | 5 | a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0158 others(2): Show |
5 | HG02451.hp2 HG02818.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.405+19227G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415086 | |||||||
| chr3:50415149 | A | G | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.405+19164T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415149 | |||||||
| chr3:50415298 | G | C | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.405+19015C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415298 | |||||||
| chr3:50415672 | T | C | 1 | a0001c0001t0014g0234 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.405+18641A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415672 | |||||||
| chr3:50415675 | T | C | 1 | a0001c0001t0001g0159 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.405+18638A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415675 | |||||||
| chr3:50415716 | G | GT | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.405+18596dupA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415716 | |||||||
| chr3:50415949 | G | C | 1 | a0001c0001t0014g0233 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.405+18364C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50415949 | |||||||
| chr3:50416025 | T | C | 115 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(112): Show |
115 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.405+18288A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50416025 | |||||||
| chr3:50416247 | G | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.405+18066C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50416247 | |||||||
| chr3:50416376 | C | T | 1 | a0001c0001t0001g0142 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.405+17937G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50416376 | |||||||
| chr3:50417034 | G | A | 1 | a0001c0002t0001g0037 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.405+17279C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417034 | |||||||
| chr3:50417232 | C | T | 1 | a0001c0002t0001g0090 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.405+17081G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417232 | |||||||
| chr3:50417340 | C | T | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+16973G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417340 | |||||||
| chr3:50417600 | G | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+16713C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417600 | |||||||
| chr3:50417908 | C | T | 1 | a0002c0003t0003g0179 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.405+16405G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417908 | |||||||
| chr3:50417967 | G | A | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+16346C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417967 | |||||||
| chr3:50417993 | C | T | 4 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0002g0120 others(1): Show |
4 | HG00597.hp2 HG02132.hp2 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+16320G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50417993 | |||||||
| chr3:50418039 | G | A | 95 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(92): Show |
95 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.405+16274C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50418039 | |||||||
| chr3:50418068 | G | C | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.405+16245C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50418068 | |||||||
| chr3:50418227 | T | C | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.405+16086A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50418227 | |||||||
| chr3:50418436 | C | T | 63 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(60): Show |
63 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.405+15877G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50418436 | |||||||
| chr3:50418628 | G | C | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.405+15685C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50418628 | |||||||
| chr3:50418928 | C | T | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+15385G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50418928 | |||||||
| chr3:50419131 | G | A | 2 | a0001c0001t0001g0158 a0001c0001t0001g0159 |
2 | HG03041.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.405+15182C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50419131 | |||||||
| chr3:50419139 | G | A | 1 | a0001c0001t0020g0154 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.405+15174C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50419139 | |||||||
| chr3:50419521 | A | C | 1 | a0001c0002t0001g0083 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.405+14792T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50419521 | |||||||
| chr3:50419796 | G | A | 63 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(60): Show |
63 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.405+14517C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50419796 | |||||||
| chr3:50419909 | A | C | 1 | a0001c0001t0002g0184 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.405+14404T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50419909 | |||||||
| chr3:50420018 | C | T | 1 | a0001c0001t0002g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.405+14295G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420018 | |||||||
| chr3:50420168 | G | A | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.405+14145C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420168 | |||||||
| chr3:50420306 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.405+14007T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420306 | |||||||
| chr3:50420389 | G | C | 1 | a0001c0001t0029g0059 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.405+13924C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420389 | |||||||
| chr3:50420402 | G | T | 1 | a0001c0001t0001g0124 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.405+13911C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420402 | |||||||
| chr3:50420512 | GGCTTGGG others(5): Show |
G | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+13789_405+1380 others(16): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420512 | |||||||
| chr3:50420525 | T | C | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+13788A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420525 | |||||||
| chr3:50420527 | T | G | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+13786A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420527 | |||||||
| chr3:50420562 | T | G | 32 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.405+13751A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420562 | |||||||
| chr3:50420583 | C | T | 1 | a0001c0001t0001g0143 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.405+13730G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420583 | |||||||
| chr3:50420763 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+13550G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420763 | |||||||
| chr3:50420843 | C | T | 1 | a0001c0001t0004g0164 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.405+13470G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50420843 | |||||||
| chr3:50421022 | G | T | 1 | a0001c0001t0001g0201 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.405+13291C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421022 | |||||||
| chr3:50421182 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+13131G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421182 | |||||||
| chr3:50421231 | A | T | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+13082T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421231 | |||||||
| chr3:50421368 | T | C | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.405+12945A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421368 | |||||||
| chr3:50421417 | C | T | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.405+12896G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421417 | |||||||
| chr3:50421508 | C | A | 1 | a0001c0002t0001g0224 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.405+12805G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421508 | |||||||
| chr3:50421508 | C | T | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | HG02015.hp2 NA18940.hp2 |
intron_variant | MODIFIER | c.405+12805G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421508 | |||||||
| chr3:50421848 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.405+12465G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421848 | |||||||
| chr3:50421892 | G | C | 10 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
10 | HG02071.hp2 HG02280.hp2 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.405+12421C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50421892 | |||||||
| chr3:50422071 | C | G | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+12242G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50422071 | |||||||
| chr3:50422149 | T | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.405+12164A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50422149 | |||||||
| chr3:50422328 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.405+11985G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50422328 | |||||||
| chr3:50422557 | A | G | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.405+11756T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50422557 | |||||||
| chr3:50422587 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+11726G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50422587 | |||||||
| chr3:50423077 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.405+11236G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423077 | |||||||
| chr3:50423079 | A | C | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.405+11234T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423079 | |||||||
| chr3:50423268 | C | T | 1 | a0001c0002t0001g0033 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.405+11045G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423268 | |||||||
| chr3:50423304 | T | C | 3 | a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0211 |
3 | NA18986.hp2 NA19010.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.405+11009A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423304 | |||||||
| chr3:50423312 | GAC | G | 6 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0001g0227 others(3): Show |
6 | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.405+10999_405+1100 others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423312 | |||||||
| chr3:50423357 | G | A | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+10956C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423357 | |||||||
| chr3:50423610 | G | T | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.405+10703C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423610 | |||||||
| chr3:50423716 | G | A | 1 | a0001c0001t0005g0025 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.405+10597C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423716 | |||||||
| chr3:50423750 | A | G | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+10563T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423750 | |||||||
| chr3:50423809 | G | A | 56 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(53): Show |
56 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(53): Show |
intron_variant | MODIFIER | c.405+10504C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423809 | |||||||
| chr3:50423930 | G | A | 1 | a0001c0002t0001g0136 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.405+10383C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423930 | |||||||
| chr3:50423962 | G | A | 1 | a0001c0001t0004g0211 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.405+10351C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50423962 | |||||||
| chr3:50424093 | C | T | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.405+10220G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424093 | |||||||
| chr3:50424253 | T | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.405+10060A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424253 | |||||||
| chr3:50424509 | T | C | 1 | a0004c0005t0010g0029 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.405+9804A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424509 | |||||||
| chr3:50424741 | C | A | 1 | a0001c0002t0006g0013 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.405+9572G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424741 | |||||||
| chr3:50424823 | C | T | 2 | a0001c0001t0001g0227 a0001c0007t0001g0050 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.405+9490G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424823 | |||||||
| chr3:50424839 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.405+9474G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424839 | |||||||
| chr3:50424863 | T | A | 1 | a0001c0001t0002g0057 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.405+9450A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424863 | |||||||
| chr3:50424890 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.405+9423A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424890 | |||||||
| chr3:50424915 | CCACCCTA others(1): Show |
C | 17 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(14): Show |
17 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.405+9390_405+9397d others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424915 | |||||||
| chr3:50424926 | C | T | 17 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(14): Show |
17 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.405+9387G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424926 | |||||||
| chr3:50424951 | C | T | 1 | a0001c0002t0001g0182 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.405+9362G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50424951 | |||||||
| chr3:50425085 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+9228G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50425085 | |||||||
| chr3:50425443 | C | G | 1 | a0001c0001t0021g0165 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.405+8870G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50425443 | |||||||
| chr3:50425970 | C | T | 1 | a0001c0002t0001g0224 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.405+8343G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50425970 | |||||||
| chr3:50426162 | G | A | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+8151C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50426162 | |||||||
| chr3:50426350 | A | C | 6 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0001g0227 others(3): Show |
6 | HG01884.hp1 HG02486.hp2 HG02559.hp2 others(3): Show |
intron_variant | MODIFIER | c.405+7963T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50426350 | |||||||
| chr3:50426504 | C | T | 30 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(27): Show |
30 | HG00408.hp1 HG00438.hp2 HG00609.hp2 others(27): Show |
intron_variant | MODIFIER | c.405+7809G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50426504 | |||||||
| chr3:50426531 | C | T | 1 | a0001c0002t0006g0010 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.405+7782G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50426531 | |||||||
| chr3:50426904 | T | C | 115 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(112): Show |
115 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.405+7409A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50426904 | |||||||
| chr3:50427259 | G | A | 2 | a0001c0001t0004g0094 a0001c0001t0004g0095 |
2 | HG00323.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.405+7054C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427259 | |||||||
| chr3:50427474 | G | A | 21 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(18): Show |
21 | HG01167.hp2 HG01169.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.405+6839C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427474 | |||||||
| chr3:50427704 | G | A | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+6609C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427704 | |||||||
| chr3:50427796 | C | T | 2 | a0001c0001t0001g0040 a0001c0001t0001g0149 |
2 | HG02486.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.405+6517G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427796 | |||||||
| chr3:50427809 | A | T | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.405+6504T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427809 | |||||||
| chr3:50427931 | T | G | 20 | a0001c0001t0001g0227 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(17): Show |
intron_variant | MODIFIER | c.405+6382A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427931 | |||||||
| chr3:50427950 | T | C | 1 | a0002c0003t0003g0167 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.405+6363A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50427950 | |||||||
| chr3:50428038 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.405+6275C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428038 | |||||||
| chr3:50428087 | C | A | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+6226G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428087 | |||||||
| chr3:50428490 | T | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.405+5823A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428490 | |||||||
| chr3:50428499 | T | C | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.405+5814A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428499 | |||||||
| chr3:50428544 | A | G | 57 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(54): Show |
57 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.405+5769T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428544 | |||||||
| chr3:50428858 | G | T | 1 | a0001c0001t0001g0152 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.405+5455C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428858 | |||||||
| chr3:50428990 | G | A | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+5323C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50428990 | |||||||
| chr3:50429031 | A | G | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+5282T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429031 | |||||||
| chr3:50429087 | A | G | 23 | a0001c0001t0019g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.405+5226T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429087 | |||||||
| chr3:50429317 | G | T | 1 | a0001c0001t0005g0008 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.405+4996C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429317 | |||||||
| chr3:50429441 | G | A | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.405+4872C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429441 | |||||||
| chr3:50429528 | G | A | 3 | a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0023g0226 |
3 | HG02451.hp2 HG02818.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.405+4785C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429528 | |||||||
| chr3:50429592 | C | CA | 10 | a0001c0001t0001g0106 a0001c0001t0001g0152 a0001c0001t0001g0160 others(7): Show |
10 | HG00673.hp1 HG01081.hp2 HG01167.hp1 others(7): Show |
intron_variant | MODIFIER | c.405+4720dupT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | C | CAA | 50 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0149 others(47): Show |
50 | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.405+4719_405+4720d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | C | CAAA | 11 | a0001c0001t0001g0041 a0001c0001t0002g0053 a0001c0001t0002g0054 others(8): Show |
11 | HG00408.hp2 HG00673.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.405+4718_405+4720d others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | CA | C | 15 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0104 others(12): Show |
15 | HG01074.hp2 HG01175.hp1 HG01496.hp1 others(12): Show |
intron_variant | MODIFIER | c.405+4720delT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | CAAA | C | 7 | a0001c0001t0001g0075 a0001c0001t0002g0043 a0001c0001t0002g0078 others(4): Show |
7 | HG02071.hp2 HG02258.hp2 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.405+4718_405+4720d others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | CAAAAAAA others(2): Show |
C | 20 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(17): Show |
20 | HG01169.hp2 HG01884.hp2 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.405+4712_405+4720d others(11): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | CAAAAAAA others(3): Show |
C | 2 | a0001c0002t0001g0218 a0001c0002t0001g0220 |
2 | HG01167.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.405+4711_405+4720d others(12): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429592 | CAAAAAAA others(4): Show |
C | 7 | a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0134 others(4): Show |
7 | HG01081.hp1 HG01255.hp2 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.405+4710_405+4720d others(13): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429592 | |||||||
| chr3:50429631 | G | A | 1 | a0001c0001t0001g0156 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.405+4682C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429631 | |||||||
| chr3:50429662 | C | T | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+4651G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429662 | |||||||
| chr3:50429694 | C | T | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.405+4619G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429694 | |||||||
| chr3:50429770 | G | GA | 6 | a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0002g0049 others(3): Show |
6 | HG01981.hp2 HG02258.hp2 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.405+4542dupT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429770 | |||||||
| chr3:50429771 | A | G | 2 | a0003c0004t0008g0004 a0003c0010t0015g0003 |
2 | HG01934.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.405+4542T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429771 | |||||||
| chr3:50429823 | C | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.405+4490G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429823 | |||||||
| chr3:50429981 | G | T | 4 | a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0002g0120 others(1): Show |
4 | HG00597.hp2 HG02132.hp2 NA18970.hp2 others(1): Show |
intron_variant | MODIFIER | c.405+4332C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50429981 | |||||||
| chr3:50430386 | C | T | 1 | a0001c0002t0001g0079 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.405+3927G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50430386 | |||||||
| chr3:50430431 | C | T | 1 | a0001c0001t0001g0156 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.405+3882G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50430431 | |||||||
| chr3:50430622 | T | C | 1 | a0001c0001t0007g0017 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.405+3691A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50430622 | |||||||
| chr3:50431060 | C | T | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.405+3253G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431060 | |||||||
| chr3:50431248 | T | C | 2 | a0001c0001t0001g0109 a0001c0001t0001g0110 |
2 | HG02015.hp2 NA18940.hp2 |
intron_variant | MODIFIER | c.405+3065A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431248 | |||||||
| chr3:50431299 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.405+3014C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431299 | |||||||
| chr3:50431693 | A | G | 1 | a0001c0001t0001g0141 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.405+2620T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431693 | |||||||
| chr3:50431769 | G | A | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.405+2544C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431769 | |||||||
| chr3:50431858 | G | A | 2 | a0001c0001t0001g0129 a0001c0001t0001g0130 |
2 | HG02970.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.405+2455C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431858 | |||||||
| chr3:50431980 | C | CA | 5 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0114 others(2): Show |
5 | HG00323.hp1 HG01074.hp2 HG02040.hp2 others(2): Show |
intron_variant | MODIFIER | c.405+2332dupT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431980 | |||||||
| chr3:50431980 | C | CAAA | 16 | a0001c0001t0018g0077 a0001c0002t0001g0033 a0002c0003t0003g0032 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.405+2330_405+2332d others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431980 | |||||||
| chr3:50431980 | C | CAAAA | 26 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(23): Show |
26 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(23): Show |
intron_variant | MODIFIER | c.405+2329_405+2332d others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431980 | |||||||
| chr3:50431980 | C | CAAAAA | 8 | a0001c0001t0019g0031 a0001c0002t0001g0083 a0001c0002t0001g0084 others(5): Show |
8 | HG02258.hp2 HG02280.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.405+2328_405+2332d others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431980 | |||||||
| chr3:50431980 | CA | C | 42 | a0001c0001t0001g0042 a0001c0001t0001g0080 a0001c0001t0001g0082 others(39): Show |
42 | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.405+2332delT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431980 | |||||||
| chr3:50431980 | CAAAA | C | 62 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0149 others(59): Show |
62 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(59): Show |
intron_variant | MODIFIER | c.405+2329_405+2332d others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431980 | |||||||
| chr3:50431983 | A | G | 1 | a0003c0004t0008g0002 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.405+2330T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50431983 | |||||||
| chr3:50432257 | G | A | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.405+2056C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50432257 | |||||||
| chr3:50432559 | G | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.405+1754C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50432559 | |||||||
| chr3:50432616 | G | A | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.405+1697C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50432616 | |||||||
| chr3:50432753 | T | A | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.405+1560A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50432753 | |||||||
| chr3:50432776 | A | C | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.405+1537T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50432776 | |||||||
| chr3:50433013 | A | C | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.405+1300T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50433013 | |||||||
| chr3:50433498 | G | A | 1 | a0001c0001t0011g0212 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.405+815C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50433498 | |||||||
| chr3:50433521 | T | C | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.405+792A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50433521 | |||||||
| chr3:50433653 | A | G | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.405+660T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50433653 | |||||||
| chr3:50433970 | C | T | 2 | a0001c0001t0001g0041 a0003c0011t0008g0001 |
2 | HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.405+343G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50433970 | |||||||
| chr3:50433977 | G | T | 37 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0103 others(34): Show |
37 | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.405+336C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50433977 | |||||||
| chr3:50434199 | C | T | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.405+114G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50434199 | |||||||
| chr3:50434293 | C | T | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.405+20G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | 50434293 | |||||||
| chr3:50434715 | C | T | 1 | a0001c0001t0001g0132 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.289-286G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50434715 | |||||||
| chr3:50434923 | T | C | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.289-494A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50434923 | |||||||
| chr3:50435134 | G | GGGGT | 23 | a0001c0001t0002g0064 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.289-706_289-705ins others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435134 | |||||||
| chr3:50435134 | G | GGGGTGT | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-706_289-705ins others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435134 | |||||||
| chr3:50435134 | G | GGTGT | 82 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(79): Show |
82 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.289-709_289-706dup others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435134 | |||||||
| chr3:50435174 | T | C | 1 | a0001c0001t0002g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.289-745A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435174 | |||||||
| chr3:50435208 | G | T | 1 | a0001c0001t0002g0193 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.289-779C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435208 | |||||||
| chr3:50435459 | C | T | 1 | a0001c0001t0006g0030 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.289-1030G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435459 | |||||||
| chr3:50435733 | A | G | 51 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(48): Show |
51 | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(48): Show |
intron_variant | MODIFIER | c.289-1304T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435733 | |||||||
| chr3:50435761 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-1332G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435761 | |||||||
| chr3:50435784 | C | T | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.289-1355G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435784 | |||||||
| chr3:50435918 | G | A | 57 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(54): Show |
57 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(54): Show |
intron_variant | MODIFIER | c.289-1489C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50435918 | |||||||
| chr3:50436016 | C | A | 1 | a0001c0001t0001g0159 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.289-1587G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436016 | |||||||
| chr3:50436267 | C | T | 2 | a0001c0001t0001g0041 a0003c0011t0008g0001 |
2 | HG02280.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.289-1838G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436267 | |||||||
| chr3:50436493 | T | C | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.289-2064A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436493 | |||||||
| chr3:50436504 | G | A | 1 | a0001c0001t0018g0077 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.289-2075C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436504 | |||||||
| chr3:50436580 | T | C | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.289-2151A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436580 | |||||||
| chr3:50436684 | C | T | 2 | a0002c0003t0003g0167 a0002c0003t0025g0168 |
2 | HG02818.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.289-2255G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436684 | |||||||
| chr3:50436730 | T | C | 5 | a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0009g0208 others(2): Show |
5 | HG01496.hp2 NA18941.hp2 NA18942.hp2 others(2): Show |
intron_variant | MODIFIER | c.289-2301A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436730 | |||||||
| chr3:50436853 | T | C | 116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.289-2424A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50436853 | |||||||
| chr3:50437143 | G | A | 41 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(38): Show |
41 | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(38): Show |
intron_variant | MODIFIER | c.289-2714C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437143 | |||||||
| chr3:50437193 | G | A | 6 | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0002t0001g0145 others(3): Show |
6 | HG01081.hp1 HG01255.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.289-2764C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437193 | |||||||
| chr3:50437232 | G | C | 1 | a0001c0001t0002g0056 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.289-2803C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437232 | |||||||
| chr3:50437301 | A | G | 38 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(35): Show |
38 | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(35): Show |
intron_variant | MODIFIER | c.289-2872T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437301 | |||||||
| chr3:50437346 | G | A | 1 | a0001c0001t0001g0158 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.289-2917C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437346 | |||||||
| chr3:50437370 | G | C | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.289-2941C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437370 | |||||||
| chr3:50437796 | C | T | 1 | a0001c0001t0002g0058 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.289-3367G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437796 | |||||||
| chr3:50437926 | A | G | 1 | a0001c0002t0001g0111 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.289-3497T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50437926 | |||||||
| chr3:50438020 | T | C | 1 | a0001c0001t0004g0161 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.289-3591A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50438020 | |||||||
| chr3:50438121 | G | A | 2 | a0001c0001t0002g0055 a0001c0001t0002g0063 |
2 | HG00597.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.289-3692C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50438121 | |||||||
| chr3:50438223 | C | T | 1 | a0001c0001t0002g0074 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.289-3794G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50438223 | |||||||
| chr3:50438256 | C | G | 1 | a0001c0001t0001g0127 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.289-3827G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50438256 | |||||||
| chr3:50438371 | G | C | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.289-3942C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50438371 | |||||||
| chr3:50438947 | G | C | 116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.289-4518C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50438947 | |||||||
| chr3:50439208 | C | G | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-4779G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50439208 | |||||||
| chr3:50439278 | C | T | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.289-4849G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50439278 | |||||||
| chr3:50439284 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.289-4855C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50439284 | |||||||
| chr3:50439640 | G | A | 4 | a0001c0001t0001g0040 a0001c0001t0001g0149 a0001c0001t0006g0006 others(1): Show |
4 | HG02486.hp2 HG02559.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-5211C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50439640 | |||||||
| chr3:50439904 | G | A | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.289-5475C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50439904 | |||||||
| chr3:50440226 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-5797C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440226 | |||||||
| chr3:50440276 | C | A | 3 | a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 |
3 | HG00597.hp1 HG02135.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.289-5847G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440276 | |||||||
| chr3:50440330 | G | A | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.289-5901C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440330 | |||||||
| chr3:50440378 | C | A | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.289-5949G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440378 | |||||||
| chr3:50440474 | C | T | 56 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(53): Show |
56 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(53): Show |
intron_variant | MODIFIER | c.289-6045G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440474 | |||||||
| chr3:50440492 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.289-6063A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440492 | |||||||
| chr3:50440747 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-6318C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440747 | |||||||
| chr3:50440872 | T | C | 1 | a0001c0001t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.289-6443A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50440872 | |||||||
| chr3:50441056 | T | G | 170 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(167): Show |
170 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(167): Show |
intron_variant | MODIFIER | c.289-6627A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441056 | |||||||
| chr3:50441395 | G | A | 3 | a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0194 |
3 | NA18967.hp2 NA18999.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.289-6966C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441395 | |||||||
| chr3:50441423 | C | T | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.289-6994G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441423 | |||||||
| chr3:50441659 | C | T | 1 | a0003c0004t0008g0005 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.289-7230G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441659 | |||||||
| chr3:50441676 | C | T | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-7247G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441676 | |||||||
| chr3:50441832 | C | T | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.289-7403G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441832 | |||||||
| chr3:50441913 | C | T | 1 | a0001c0002t0001g0079 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.289-7484G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50441913 | |||||||
| chr3:50442271 | C | A | 22 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(19): Show |
22 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
intron_variant | MODIFIER | c.289-7842G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50442271 | |||||||
| chr3:50442671 | C | T | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.289-8242G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50442671 | |||||||
| chr3:50442700 | T | G | 31 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(28): Show |
31 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(28): Show |
intron_variant | MODIFIER | c.289-8271A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50442700 | |||||||
| chr3:50442867 | C | A | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.289-8438G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50442867 | |||||||
| chr3:50443184 | C | T | 1 | a0001c0001t0001g0225 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.289-8755G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443184 | |||||||
| chr3:50443261 | A | ACCCACCC others(4): Show |
1 | a0001c0001t0005g0025 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.289-8843_289-8833d others(13): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443261 | |||||||
| chr3:50443432 | T | C | 58 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(55): Show |
58 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(55): Show |
intron_variant | MODIFIER | c.289-9003A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443432 | |||||||
| chr3:50443604 | G | T | 34 | a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0104 others(31): Show |
34 | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.289-9175C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443604 | |||||||
| chr3:50443712 | C | T | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.289-9283G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443712 | |||||||
| chr3:50443752 | C | T | 1 | a0001c0001t0002g0074 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.289-9323G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443752 | |||||||
| chr3:50443891 | G | A | 3 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0111 |
3 | HG02145.hp1 HG02976.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.289-9462C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50443891 | |||||||
| chr3:50444120 | C | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.289-9691G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50444120 | |||||||
| chr3:50444286 | C | T | 116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.289-9857G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50444286 | |||||||
| chr3:50444446 | C | T | 1 | a0001c0001t0001g0137 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.289-10017G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50444446 | |||||||
| chr3:50444519 | T | C | 4 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0111 others(1): Show |
4 | HG02145.hp1 HG02970.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.289-10090A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50444519 | |||||||
| chr3:50445077 | G | A | 1 | a0001c0001t0002g0066 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.289-10648C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445077 | |||||||
| chr3:50445244 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-10815G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445244 | |||||||
| chr3:50445398 | C | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.289-10969G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445398 | |||||||
| chr3:50445461 | C | T | 1 | a0001c0001t0002g0070 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.289-11032G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445461 | |||||||
| chr3:50445563 | G | A | 52 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(49): Show |
52 | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(49): Show |
intron_variant | MODIFIER | c.289-11134C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445563 | |||||||
| chr3:50445751 | T | C | 6 | a0001c0001t0001g0040 a0001c0002t0001g0083 a0001c0002t0001g0084 others(3): Show |
6 | HG02486.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.289-11322A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445751 | |||||||
| chr3:50445797 | G | A | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-11368C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445797 | |||||||
| chr3:50445982 | CCAG | C | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-11556_289-1155 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50445982 | |||||||
| chr3:50446006 | T | C | 63 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(60): Show |
63 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(60): Show |
intron_variant | MODIFIER | c.289-11577A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446006 | |||||||
| chr3:50446251 | G | A | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-11822C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446251 | |||||||
| chr3:50446252 | C | T | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-11823G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446252 | |||||||
| chr3:50446265 | G | T | 1 | a0001c0002t0001g0079 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.289-11836C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446265 | |||||||
| chr3:50446550 | C | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.289-12121G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446550 | |||||||
| chr3:50446650 | T | C | 2 | a0001c0001t0002g0053 a0001c0001t0002g0054 |
2 | HG00408.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.289-12221A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446650 | |||||||
| chr3:50446677 | G | C | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-12248C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446677 | |||||||
| chr3:50446905 | G | C | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-12476C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50446905 | |||||||
| chr3:50447257 | G | A | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-12828C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447257 | |||||||
| chr3:50447258 | G | C | 10 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(7): Show |
10 | HG01243.hp2 HG02258.hp1 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.289-12829C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447258 | |||||||
| chr3:50447476 | G | C | 3 | a0001c0001t0001g0045 a0001c0001t0014g0233 a0001c0001t0014g0234 |
3 | NA18967.hp1 NA18977.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.289-13047C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447476 | |||||||
| chr3:50447572 | T | C | 1 | a0001c0001t0001g0225 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.289-13143A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447572 | |||||||
| chr3:50447574 | C | T | 56 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(53): Show |
56 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(53): Show |
intron_variant | MODIFIER | c.289-13145G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447574 | |||||||
| chr3:50447634 | C | A | 6 | a0001c0001t0001g0040 a0001c0002t0001g0083 a0001c0002t0001g0084 others(3): Show |
6 | HG02486.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.289-13205G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447634 | |||||||
| chr3:50447640 | G | A | 2 | a0001c0001t0001g0201 a0001c0001t0001g0207 |
2 | HG00408.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.289-13211C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447640 | |||||||
| chr3:50447959 | C | T | 3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.289-13530G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50447959 | |||||||
| chr3:50448013 | C | A | 2 | a0001c0002t0001g0033 a0001c0002t0001g0034 |
2 | HG02145.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.289-13584G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448013 | |||||||
| chr3:50448036 | C | A | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.289-13607G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448036 | |||||||
| chr3:50448078 | C | T | 1 | a0001c0001t0030g0155 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.289-13649G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448078 | |||||||
| chr3:50448201 | G | A | 5 | a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0001g0158 others(2): Show |
5 | HG02451.hp2 HG02818.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.289-13772C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448201 | |||||||
| chr3:50448280 | A | G | 2 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
2 | NA18943.hp2 NA18948.hp1 |
intron_variant | MODIFIER | c.289-13851T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448280 | |||||||
| chr3:50448527 | A | G | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-14098T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448527 | |||||||
| chr3:50448555 | A | G | 1 | a0001c0001t0001g0181 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.289-14126T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448555 | |||||||
| chr3:50448626 | A | G | 52 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(49): Show |
52 | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(49): Show |
intron_variant | MODIFIER | c.289-14197T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448626 | |||||||
| chr3:50448683 | T | A | 2 | a0001c0001t0002g0055 a0001c0001t0002g0063 |
2 | HG00597.hp1 HG02135.hp1 |
intron_variant | MODIFIER | c.289-14254A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448683 | |||||||
| chr3:50448808 | G | A | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-14379C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448808 | |||||||
| chr3:50448818 | A | G | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.289-14389T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448818 | |||||||
| chr3:50448920 | C | T | 1 | a0001c0001t0001g0160 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.289-14491G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50448920 | |||||||
| chr3:50449019 | C | T | 1 | a0001c0001t0005g0014 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.289-14590G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449019 | |||||||
| chr3:50449161 | G | A | 1 | a0001c0001t0002g0057 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.289-14732C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449161 | |||||||
| chr3:50449175 | A | G | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.289-14746T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449175 | |||||||
| chr3:50449312 | G | C | 1 | a0001c0001t0001g0122 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.289-14883C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449312 | |||||||
| chr3:50449342 | G | A | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.289-14913C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449342 | |||||||
| chr3:50449464 | T | C | 115 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(112): Show |
115 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(112): Show |
intron_variant | MODIFIER | c.289-15035A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449464 | |||||||
| chr3:50449705 | C | T | 1 | a0003c0004t0008g0002 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.289-15276G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449705 | |||||||
| chr3:50449816 | G | C | 1 | a0001c0002t0001g0037 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.289-15387C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50449816 | |||||||
| chr3:50450636 | CT | C | 6 | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0216 others(3): Show |
6 | HG01081.hp1 HG01255.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.289-16208delA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50450636 | |||||||
| chr3:50450841 | A | G | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-16412T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50450841 | |||||||
| chr3:50450847 | C | T | 5 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0152 others(2): Show |
5 | HG00609.hp1 HG00621.hp1 HG02015.hp2 others(2): Show |
intron_variant | MODIFIER | c.289-16418G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50450847 | |||||||
| chr3:50450902 | T | C | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.289-16473A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50450902 | |||||||
| chr3:50451228 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.289-16799G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451228 | |||||||
| chr3:50451250 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.289-16821G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451250 | |||||||
| chr3:50451256 | C | G | 52 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(49): Show |
52 | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(49): Show |
intron_variant | MODIFIER | c.289-16827G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451256 | |||||||
| chr3:50451301 | A | G | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.289-16872T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451301 | |||||||
| chr3:50451310 | A | G | 13 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0037 others(10): Show |
13 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(10): Show |
intron_variant | MODIFIER | c.289-16881T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451310 | |||||||
| chr3:50451318 | G | A | 1 | a0003c0010t0015g0003 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.289-16889C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451318 | |||||||
| chr3:50451351 | C | G | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.289-16922G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451351 | |||||||
| chr3:50451387 | A | G | 1 | a0003c0010t0015g0003 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.289-16958T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451387 | |||||||
| chr3:50451414 | A | C | 116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.289-16985T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451414 | |||||||
| chr3:50451668 | T | C | 1 | a0001c0001t0007g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.289-17239A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451668 | |||||||
| chr3:50451712 | G | A | 2 | a0001c0001t0001g0125 a0001c0001t0020g0154 |
2 | HG00099.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.289-17283C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451712 | |||||||
| chr3:50451777 | G | C | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-17348C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451777 | |||||||
| chr3:50451937 | G | A | 3 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 |
3 | HG02258.hp1 HG02897.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.289-17508C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451937 | |||||||
| chr3:50451968 | A | G | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-17539T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50451968 | |||||||
| chr3:50452097 | G | A | 1 | a0001c0001t0002g0069 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.289-17668C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452097 | |||||||
| chr3:50452221 | T | C | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.289-17792A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452221 | |||||||
| chr3:50452570 | A | G | 1 | a0001c0001t0020g0154 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.289-18141T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452570 | |||||||
| chr3:50452617 | A | T | 1 | a0001c0002t0001g0086 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.289-18188T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452617 | |||||||
| chr3:50452634 | A | G | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.289-18205T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452634 | |||||||
| chr3:50452673 | G | A | 1 | a0003c0004t0008g0002 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.289-18244C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452673 | |||||||
| chr3:50452700 | T | A | 2 | a0001c0001t0002g0187 a0001c0001t0002g0193 |
2 | NA18967.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.289-18271A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452700 | |||||||
| chr3:50452813 | T | C | 64 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(61): Show |
64 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(61): Show |
intron_variant | MODIFIER | c.289-18384A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452813 | |||||||
| chr3:50452972 | C | T | 1 | a0002c0003t0003g0175 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.289-18543G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50452972 | |||||||
| chr3:50453147 | C | T | 1 | a0001c0001t0002g0066 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.289-18718G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50453147 | |||||||
| chr3:50453163 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-18734G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50453163 | |||||||
| chr3:50453924 | C | T | 1 | a0001c0001t0006g0030 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.289-19495G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50453924 | |||||||
| chr3:50454269 | G | A | 1 | a0001c0001t0002g0065 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.289-19840C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50454269 | |||||||
| chr3:50454274 | G | A | 1 | a0001c0001t0002g0065 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.289-19845C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50454274 | |||||||
| chr3:50454705 | T | A | 1 | a0001c0001t0009g0210 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.289-20276A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50454705 | |||||||
| chr3:50454725 | G | A | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-20296C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50454725 | |||||||
| chr3:50454736 | T | C | 1 | a0002c0003t0003g0032 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.289-20307A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50454736 | |||||||
| chr3:50454737 | G | A | 3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.289-20308C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50454737 | |||||||
| chr3:50455095 | G | T | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.289-20666C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455095 | |||||||
| chr3:50455097 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-20668G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455097 | |||||||
| chr3:50455105 | T | G | 1 | a0001c0001t0029g0059 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.289-20676A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455105 | |||||||
| chr3:50455222 | G | A | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.289-20793C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455222 | |||||||
| chr3:50455241 | G | A | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.289-20812C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455241 | |||||||
| chr3:50455573 | G | A | 2 | a0001c0001t0004g0094 a0001c0001t0004g0095 |
2 | HG00323.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.288+20545C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455573 | |||||||
| chr3:50455577 | C | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+20541G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455577 | |||||||
| chr3:50455617 | G | A | 1 | a0001c0001t0005g0025 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.288+20501C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455617 | |||||||
| chr3:50455780 | C | T | 1 | a0001c0001t0002g0044 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.288+20338G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455780 | |||||||
| chr3:50455949 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+20169G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50455949 | |||||||
| chr3:50456119 | T | C | 116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.288+19999A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456119 | |||||||
| chr3:50456231 | G | A | 1 | a0003c0004t0008g0005 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.288+19887C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456231 | |||||||
| chr3:50456347 | C | T | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.288+19771G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456347 | |||||||
| chr3:50456415 | C | T | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.288+19703G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456415 | |||||||
| chr3:50456419 | G | A | 1 | a0001c0001t0001g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.288+19699C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456419 | |||||||
| chr3:50456434 | T | C | 1 | a0002c0003t0003g0170 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.288+19684A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456434 | |||||||
| chr3:50456440 | C | T | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.288+19678G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456440 | |||||||
| chr3:50456752 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.288+19366G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456752 | |||||||
| chr3:50456950 | A | G | 1 | a0001c0001t0001g0163 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.288+19168T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50456950 | |||||||
| chr3:50457066 | A | G | 64 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(61): Show |
64 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(61): Show |
intron_variant | MODIFIER | c.288+19052T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457066 | |||||||
| chr3:50457199 | G | A | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.288+18919C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457199 | |||||||
| chr3:50457468 | C | T | 2 | a0001c0001t0001g0135 a0001c0001t0001g0225 |
2 | HG03017.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.288+18650G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457468 | |||||||
| chr3:50457509 | G | A | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.288+18609C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457509 | |||||||
| chr3:50457555 | C | T | 1 | a0001c0001t0005g0024 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.288+18563G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457555 | |||||||
| chr3:50457716 | C | T | 1 | a0001c0001t0001g0096 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.288+18402G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457716 | |||||||
| chr3:50457933 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.288+18185C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50457933 | |||||||
| chr3:50458056 | A | C | 116 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(113): Show |
116 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(113): Show |
intron_variant | MODIFIER | c.288+18062T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50458056 | |||||||
| chr3:50458351 | C | T | 2 | a0002c0003t0012g0174 a0002c0003t0012g0177 |
2 | HG01074.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.288+17767G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50458351 | |||||||
| chr3:50458601 | C | A | 4 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0111 others(1): Show |
4 | HG02145.hp1 HG02970.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.288+17517G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50458601 | |||||||
| chr3:50458661 | C | T | 1 | a0001c0001t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.288+17457G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50458661 | |||||||
| chr3:50458811 | A | G | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.288+17307T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50458811 | |||||||
| chr3:50458882 | C | T | 1 | a0001c0001t0002g0066 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.288+17236G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50458882 | |||||||
| chr3:50459146 | G | C | 1 | a0001c0001t0001g0199 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.288+16972C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459146 | |||||||
| chr3:50459442 | C | T | 36 | a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 others(33): Show |
36 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(33): Show |
intron_variant | MODIFIER | c.288+16676G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459442 | |||||||
| chr3:50459447 | C | G | 1 | a0001c0001t0001g0200 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.288+16671G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459447 | |||||||
| chr3:50459471 | A | G | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+16647T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459471 | |||||||
| chr3:50459604 | A | G | 56 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(53): Show |
56 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(53): Show |
intron_variant | MODIFIER | c.288+16514T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459604 | |||||||
| chr3:50459848 | T | C | 1 | a0001c0001t0001g0200 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.288+16270A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459848 | |||||||
| chr3:50459909 | CCCTGCAG | C | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.288+16202_288+1620 others(11): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50459909 | |||||||
| chr3:50460167 | T | G | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.288+15951A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50460167 | |||||||
| chr3:50460434 | T | C | 4 | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0111 others(1): Show |
4 | HG02145.hp1 HG02970.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.288+15684A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50460434 | |||||||
| chr3:50460474 | GT | G | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+15643delA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50460474 | |||||||
| chr3:50460779 | G | A | 1 | a0001c0001t0004g0100 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.288+15339C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50460779 | |||||||
| chr3:50460785 | C | T | 1 | a0001c0001t0004g0185 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.288+15333G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50460785 | |||||||
| chr3:50461044 | G | C | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+15074C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461044 | |||||||
| chr3:50461233 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+14885C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461233 | |||||||
| chr3:50461745 | C | CA | 5 | a0001c0001t0001g0160 a0001c0001t0022g0097 a0002c0003t0003g0173 others(2): Show |
5 | HG01074.hp1 HG02572.hp2 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.288+14372dupT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461745 | |||||||
| chr3:50461757 | AAAAAAAG | A | 53 | a0001c0001t0001g0045 a0001c0001t0001g0149 a0001c0001t0001g0227 others(50): Show |
53 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.288+14354_288+1436 others(11): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461757 | |||||||
| chr3:50461758 | AAAAAAG | A | 6 | a0001c0001t0002g0049 a0001c0001t0005g0008 a0001c0001t0005g0021 others(3): Show |
6 | HG00099.hp2 HG01175.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.288+14354_288+1435 others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461758 | |||||||
| chr3:50461777 | A | AAAGG | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.288+14337_288+1434 others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461777 | |||||||
| chr3:50461777 | A | G | 2 | a0001c0001t0007g0018 a0001c0007t0001g0050 |
2 | HG01884.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.288+14341T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461777 | |||||||
| chr3:50461909 | T | C | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.288+14209A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50461909 | |||||||
| chr3:50462101 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+14017G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462101 | |||||||
| chr3:50462275 | G | A | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.288+13843C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462275 | |||||||
| chr3:50462279 | C | T | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.288+13839G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462279 | |||||||
| chr3:50462280 | T | C | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.288+13838A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462280 | |||||||
| chr3:50462296 | G | A | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+13822C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462296 | |||||||
| chr3:50462318 | G | T | 2 | a0001c0001t0001g0201 a0001c0001t0001g0207 |
2 | HG00408.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.288+13800C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462318 | |||||||
| chr3:50462374 | C | T | 3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.288+13744G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462374 | |||||||
| chr3:50462387 | A | AAAT | 35 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(32): Show |
35 | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(32): Show |
intron_variant | MODIFIER | c.288+13728_288+1373 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462387 | |||||||
| chr3:50462387 | A | AAATAAT | 13 | a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0105 others(10): Show |
13 | HG00280.hp2 HG00673.hp1 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.288+13725_288+1373 others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462387 | |||||||
| chr3:50462387 | AAAT | A | 82 | a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0113 others(79): Show |
82 | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(79): Show |
intron_variant | MODIFIER | c.288+13728_288+1373 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462387 | |||||||
| chr3:50462387 | AAATAAT | A | 14 | a0001c0001t0001g0143 a0001c0001t0002g0044 a0001c0001t0002g0053 others(11): Show |
14 | HG00408.hp2 HG00735.hp2 HG01975.hp2 others(11): Show |
intron_variant | MODIFIER | c.288+13725_288+1373 others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462387 | |||||||
| chr3:50462387 | AAATAATA others(5): Show |
A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+13719_288+1373 others(16): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462387 | |||||||
| chr3:50462427 | A | AATG | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.288+13690_288+1369 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462427 | |||||||
| chr3:50462430 | A | AATAATAA others(2): Show |
5 | a0001c0001t0001g0040 a0001c0002t0001g0079 a0001c0002t0001g0090 others(2): Show |
5 | HG02572.hp1 HG02970.hp1 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.288+13687_288+1368 others(13): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462430 | |||||||
| chr3:50462430 | A | AATAATG | 10 | a0001c0001t0024g0088 a0001c0002t0001g0033 a0001c0002t0001g0034 others(7): Show |
10 | HG01167.hp2 HG01169.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.288+13687_288+1368 others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462430 | |||||||
| chr3:50462430 | A | AATG | 4 | a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0222 others(1): Show |
4 | HG01884.hp2 HG03486.hp2 NA19043.hp2 others(1): Show |
intron_variant | MODIFIER | c.288+13685_288+1368 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462430 | |||||||
| chr3:50462430 | A | G | 14 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0076 others(11): Show |
14 | HG02071.hp2 HG02280.hp2 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.288+13688T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462430 | |||||||
| chr3:50462496 | T | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+13622A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462496 | |||||||
| chr3:50462513 | C | T | 1 | a0001c0001t0006g0030 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.288+13605G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462513 | |||||||
| chr3:50462514 | G | A | 1 | a0001c0001t0011g0212 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.288+13604C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462514 | |||||||
| chr3:50462755 | TGGAAATG others(16): Show |
T | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.288+13340_288+1336 others(27): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462755 | |||||||
| chr3:50462770 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.288+13348C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462770 | |||||||
| chr3:50462839 | A | G | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+13279T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462839 | |||||||
| chr3:50462890 | G | GA | 25 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(22): Show |
25 | HG01167.hp2 HG01169.hp2 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.288+13227dupT | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462890 | |||||||
| chr3:50462934 | G | T | 1 | a0001c0001t0007g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.288+13184C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462934 | |||||||
| chr3:50462935 | A | T | 1 | a0001c0001t0007g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.288+13183T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50462935 | |||||||
| chr3:50463052 | G | C | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.288+13066C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50463052 | |||||||
| chr3:50463305 | C | CT | 5 | a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0160 others(2): Show |
5 | HG00280.hp2 HG01934.hp1 HG02300.hp2 others(2): Show |
intron_variant | MODIFIER | c.288+12812dupA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50463305 | |||||||
| chr3:50463305 | CT | C | 7 | a0001c0001t0002g0043 a0001c0001t0002g0101 a0001c0001t0004g0095 others(4): Show |
7 | HG00323.hp2 HG01257.hp2 HG02735.hp2 others(4): Show |
intron_variant | MODIFIER | c.288+12812delA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50463305 | |||||||
| chr3:50463386 | C | T | 1 | a0001c0001t0001g0134 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.288+12732G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50463386 | |||||||
| chr3:50463934 | G | A | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.288+12184C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50463934 | |||||||
| chr3:50464158 | C | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.288+11960G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464158 | |||||||
| chr3:50464541 | G | A | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.288+11577C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464541 | |||||||
| chr3:50464583 | A | C | 36 | a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 others(33): Show |
36 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(33): Show |
intron_variant | MODIFIER | c.288+11535T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464583 | |||||||
| chr3:50464600 | C | T | 5 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0152 others(2): Show |
5 | HG00609.hp1 HG00621.hp1 HG02015.hp2 others(2): Show |
intron_variant | MODIFIER | c.288+11518G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464600 | |||||||
| chr3:50464746 | G | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.288+11372C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464746 | |||||||
| chr3:50464769 | C | T | 1 | a0001c0001t0005g0024 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.288+11349G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464769 | |||||||
| chr3:50464807 | C | A | 4 | a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0211 others(1): Show |
4 | NA18986.hp2 NA19005.hp1 NA19010.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+11311G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50464807 | |||||||
| chr3:50465404 | T | C | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.288+10714A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50465404 | |||||||
| chr3:50465739 | A | G | 77 | a0001c0001t0001g0045 a0001c0001t0001g0149 a0001c0001t0001g0227 others(74): Show |
77 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.288+10379T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50465739 | |||||||
| chr3:50465997 | C | T | 1 | a0001c0001t0004g0150 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.288+10121G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50465997 | |||||||
| chr3:50466269 | C | T | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.288+9849G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466269 | |||||||
| chr3:50466272 | A | ATG | 11 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(8): Show |
11 | HG00280.hp1 HG01243.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.288+9844_288+9845d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466272 | |||||||
| chr3:50466272 | A | G | 18 | a0001c0001t0002g0043 a0001c0001t0002g0078 a0002c0003t0003g0032 others(15): Show |
18 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(15): Show |
intron_variant | MODIFIER | c.288+9846T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466272 | |||||||
| chr3:50466272 | ATG | A | 82 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(79): Show |
82 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(79): Show |
intron_variant | MODIFIER | c.288+9844_288+9845d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466272 | |||||||
| chr3:50466273 | T | C | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.288+9845A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466273 | |||||||
| chr3:50466274 | G | A | 16 | a0002c0003t0003g0032 a0002c0003t0003g0035 a0002c0003t0003g0036 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(13): Show |
intron_variant | MODIFIER | c.288+9844C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466274 | |||||||
| chr3:50466295 | T | C | 1 | a0001c0001t0001g0127 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.288+9823A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466295 | |||||||
| chr3:50466311 | T | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+9807A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466311 | |||||||
| chr3:50466415 | G | A | 1 | a0001c0002t0001g0084 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.288+9703C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466415 | |||||||
| chr3:50466439 | G | A | 1 | a0001c0001t0001g0204 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.288+9679C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466439 | |||||||
| chr3:50466696 | A | G | 1 | a0001c0001t0001g0124 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.288+9422T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466696 | |||||||
| chr3:50466856 | C | A | 1 | a0001c0001t0005g0016 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.288+9262G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466856 | |||||||
| chr3:50466861 | C | G | 1 | a0001c0002t0001g0084 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.288+9257G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466861 | |||||||
| chr3:50466881 | G | A | 1 | a0001c0002t0001g0111 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.288+9237C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50466881 | |||||||
| chr3:50467083 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+9035G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467083 | |||||||
| chr3:50467115 | T | C | 130 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(127): Show |
130 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.288+9003A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467115 | |||||||
| chr3:50467150 | G | C | 1 | a0001c0001t0002g0071 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.288+8968C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467150 | |||||||
| chr3:50467167 | C | G | 1 | a0001c0001t0006g0030 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.288+8951G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467167 | |||||||
| chr3:50467271 | A | G | 1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.288+8847T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467271 | |||||||
| chr3:50467316 | T | C | 1 | a0001c0001t0001g0159 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.288+8802A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467316 | |||||||
| chr3:50467465 | G | A | 71 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(68): Show |
71 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(68): Show |
intron_variant | MODIFIER | c.288+8653C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467465 | |||||||
| chr3:50467746 | C | T | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.288+8372G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467746 | |||||||
| chr3:50467830 | G | A | 1 | a0001c0001t0001g0080 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.288+8288C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467830 | |||||||
| chr3:50467964 | C | T | 37 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0103 others(34): Show |
37 | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(34): Show |
intron_variant | MODIFIER | c.288+8154G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50467964 | |||||||
| chr3:50468052 | C | T | 3 | a0001c0001t0002g0044 a0001c0001t0007g0017 a0001c0001t0016g0020 |
3 | HG00735.hp2 HG01975.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.288+8066G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468052 | |||||||
| chr3:50468115 | C | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+8003G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468115 | |||||||
| chr3:50468331 | G | A | 5 | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 others(2): Show |
5 | HG02486.hp1 HG02559.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.288+7787C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468331 | |||||||
| chr3:50468379 | T | TTG | 8 | a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0173 others(5): Show |
8 | HG01074.hp1 HG02895.hp2 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.288+7738_288+7739i others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468379 | T | TTGTGTGT others(3): Show |
1 | a0002c0003t0003g0180 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.288+7738_288+7739i others(12): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468379 | T | TTGTGTGT others(7): Show |
1 | a0002c0003t0003g0179 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.288+7738_288+7739i others(16): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468379 | TAG | T | 2 | a0002c0003t0025g0168 a0004c0005t0010g0028 |
2 | HG02572.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.288+7737_288+7738d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468379 | TAGTG | T | 2 | a0001c0001t0019g0031 a0002c0003t0003g0032 |
2 | HG02258.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.288+7735_288+7738d others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468379 | TAGTGTGT others(13): Show |
T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.288+7719_288+7738d others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468379 | TAGTGTGT others(21): Show |
T | 3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.288+7711_288+7738d others(30): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468379 | |||||||
| chr3:50468380 | A | AGT | 22 | a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 others(19): Show |
22 | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(19): Show |
intron_variant | MODIFIER | c.288+7736_288+7737d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGT | 25 | a0001c0001t0001g0041 a0001c0001t0001g0125 a0001c0001t0001g0127 others(22): Show |
25 | HG00099.hp1 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.288+7734_288+7737d others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGT | 32 | a0001c0001t0001g0042 a0001c0001t0001g0108 a0001c0001t0001g0112 others(29): Show |
32 | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(29): Show |
intron_variant | MODIFIER | c.288+7732_288+7737d others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGTG others(1): Show |
24 | a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0117 others(21): Show |
24 | HG00408.hp2 HG00609.hp2 HG01952.hp1 others(21): Show |
intron_variant | MODIFIER | c.288+7730_288+7737d others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGTG others(3): Show |
10 | a0001c0001t0001g0093 a0001c0001t0001g0135 a0001c0001t0001g0202 others(7): Show |
10 | HG00438.hp2 HG01192.hp1 HG01975.hp2 others(7): Show |
intron_variant | MODIFIER | c.288+7728_288+7737d others(12): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGTG others(5): Show |
4 | a0001c0001t0001g0045 a0001c0001t0001g0158 a0001c0001t0030g0155 others(1): Show |
4 | HG03041.hp2 HG06807.hp2 NA18966.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+7726_288+7737d others(14): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGTG others(7): Show |
6 | a0001c0001t0001g0109 a0001c0001t0001g0199 a0001c0001t0002g0049 others(3): Show |
6 | HG00673.hp1 NA18940.hp1 NA18940.hp2 others(3): Show |
intron_variant | MODIFIER | c.288+7724_288+7737d others(16): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGTG others(9): Show |
3 | a0001c0001t0002g0215 a0001c0001t0004g0164 a0001c0001t0027g0188 |
3 | HG02074.hp1 NA18941.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.288+7722_288+7737d others(18): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | AGTGTGTG others(17): Show |
1 | a0001c0002t0001g0218 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.288+7714_288+7737d others(26): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | A | T | 14 | a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0167 others(11): Show |
14 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.288+7738T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGT | A | 16 | a0001c0001t0001g0040 a0001c0001t0001g0098 a0001c0001t0001g0115 others(13): Show |
16 | HG00280.hp1 HG00621.hp2 HG00673.hp2 others(13): Show |
intron_variant | MODIFIER | c.288+7736_288+7737d others(4): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGTGT | A | 14 | a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0104 others(11): Show |
14 | HG01074.hp2 HG01243.hp2 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.288+7734_288+7737d others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGTGTGT | A | 12 | a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0129 others(9): Show |
12 | HG01192.hp2 HG01884.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.288+7732_288+7737d others(8): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGTGTGTG others(1): Show |
A | 12 | a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0123 others(9): Show |
12 | HG01081.hp2 HG01496.hp1 HG01981.hp1 others(9): Show |
intron_variant | MODIFIER | c.288+7730_288+7737d others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGTGTGTG others(3): Show |
A | 2 | a0001c0001t0001g0219 a0001c0001t0026g0228 |
2 | HG01169.hp1 NA18977.hp2 |
intron_variant | MODIFIER | c.288+7728_288+7737d others(12): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGTGTGTG others(15): Show |
A | 3 | a0001c0001t0009g0208 a0001c0001t0009g0209 a0001c0001t0009g0210 |
3 | NA18941.hp2 NA18942.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.288+7716_288+7737d others(24): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468380 | AGTGTGTG others(19): Show |
A | 1 | a0001c0002t0001g0090 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.288+7712_288+7737d others(28): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468380 | |||||||
| chr3:50468626 | C | T | 2 | a0001c0001t0001g0143 a0001c0001t0001g0219 |
2 | HG01169.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.288+7492G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468626 | |||||||
| chr3:50468642 | C | A | 33 | a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0104 others(30): Show |
33 | HG00280.hp2 HG00597.hp2 HG00609.hp1 others(30): Show |
intron_variant | MODIFIER | c.288+7476G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468642 | |||||||
| chr3:50468829 | C | CT | 122 | a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0091 others(119): Show |
122 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(119): Show |
intron_variant | MODIFIER | c.288+7288dupA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468829 | |||||||
| chr3:50468829 | C | CTCT | 6 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(3): Show |
6 | NA18942.hp1 NA18945.hp2 NA19012.hp1 others(3): Show |
intron_variant | MODIFIER | c.288+7288_288+7289i others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50468829 | |||||||
| chr3:50469247 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+6871G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50469247 | |||||||
| chr3:50469373 | C | CT | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+6744_288+6745i others(3): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50469373 | |||||||
| chr3:50469374 | A | C | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+6744T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50469374 | |||||||
| chr3:50469525 | A | G | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.288+6593T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50469525 | |||||||
| chr3:50469686 | G | A | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+6432C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50469686 | |||||||
| chr3:50469785 | C | T | 1 | a0001c0001t0001g0225 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.288+6333G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50469785 | |||||||
| chr3:50470369 | A | AAGGGGTG others(13): Show |
1 | a0001c0001t0007g0017 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.288+5729_288+5748d others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470369 | |||||||
| chr3:50470493 | C | A | 1 | a0001c0001t0002g0197 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.288+5625G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470493 | |||||||
| chr3:50470583 | A | G | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.288+5535T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470583 | |||||||
| chr3:50470599 | C | CG | 20 | a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0103 others(17): Show |
20 | HG00323.hp2 HG01071.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.288+5518dupC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470599 | |||||||
| chr3:50470599 | CG | C | 75 | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0075 others(72): Show |
75 | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(72): Show |
intron_variant | MODIFIER | c.288+5518delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470599 | |||||||
| chr3:50470599 | CGGG | C | 87 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0048 others(84): Show |
87 | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(84): Show |
intron_variant | MODIFIER | c.288+5516_288+5518d others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470599 | |||||||
| chr3:50470603 | G | C | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+5515C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470603 | |||||||
| chr3:50470609 | G | A | 1 | a0001c0001t0001g0143 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.288+5509C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470609 | |||||||
| chr3:50470611 | G | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+5507C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470611 | |||||||
| chr3:50470612 | T | G | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.288+5506A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470612 | |||||||
| chr3:50470665 | C | T | 1 | a0001c0001t0001g0166 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.288+5453G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470665 | |||||||
| chr3:50470782 | G | C | 71 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(68): Show |
71 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(68): Show |
intron_variant | MODIFIER | c.288+5336C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470782 | |||||||
| chr3:50470867 | G | A | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.288+5251C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470867 | |||||||
| chr3:50470886 | G | A | 1 | a0001c0001t0001g0118 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.288+5232C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470886 | |||||||
| chr3:50470895 | G | A | 76 | a0001c0001t0001g0045 a0001c0001t0001g0149 a0001c0001t0001g0227 others(73): Show |
76 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.288+5223C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470895 | |||||||
| chr3:50470898 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+5220C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470898 | |||||||
| chr3:50470977 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.288+5141A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50470977 | |||||||
| chr3:50471067 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+5051G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471067 | |||||||
| chr3:50471301 | G | T | 1 | a0001c0001t0001g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.288+4817C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471301 | |||||||
| chr3:50471389 | G | A | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
intron_variant | MODIFIER | c.288+4729C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471389 | |||||||
| chr3:50471646 | G | A | 1 | a0001c0001t0001g0127 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.288+4472C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471646 | |||||||
| chr3:50471733 | CG | C | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+4384delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471733 | |||||||
| chr3:50471827 | G | A | 3 | a0001c0001t0001g0045 a0001c0001t0014g0233 a0001c0001t0014g0234 |
3 | NA18967.hp1 NA18977.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.288+4291C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471827 | |||||||
| chr3:50471899 | C | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+4219G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471899 | |||||||
| chr3:50471971 | G | T | 1 | a0001c0002t0001g0038 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.288+4147C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50471971 | |||||||
| chr3:50472327 | C | T | 1 | a0001c0001t0004g0046 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.288+3791G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50472327 | |||||||
| chr3:50472433 | G | A | 5 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 others(2): Show |
5 | HG01943.hp1 HG01975.hp1 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.288+3685C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50472433 | |||||||
| chr3:50472456 | C | A | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.288+3662G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50472456 | |||||||
| chr3:50472486 | C | T | 3 | a0001c0001t0001g0042 a0001c0001t0001g0118 a0001c0001t0013g0232 |
3 | HG02723.hp1 HG03195.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.288+3632G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50472486 | |||||||
| chr3:50472595 | TTCA | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+3520_288+3522d others(5): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50472595 | |||||||
| chr3:50473012 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.288+3106C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473012 | |||||||
| chr3:50473072 | G | A | 1 | a0001c0001t0001g0171 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.288+3046C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473072 | |||||||
| chr3:50473227 | C | T | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+2891G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473227 | |||||||
| chr3:50473393 | A | G | 32 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(29): Show |
32 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(29): Show |
intron_variant | MODIFIER | c.288+2725T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473393 | |||||||
| chr3:50473399 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.288+2719C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473399 | |||||||
| chr3:50473710 | A | G | 1 | a0001c0002t0001g0037 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.288+2408T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473710 | |||||||
| chr3:50473901 | G | A | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+2217C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50473901 | |||||||
| chr3:50474332 | T | C | 1 | a0001c0001t0007g0026 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.288+1786A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474332 | |||||||
| chr3:50474417 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.288+1701C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474417 | |||||||
| chr3:50474458 | G | A | 1 | a0001c0001t0007g0023 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.288+1660C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474458 | |||||||
| chr3:50474643 | C | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.288+1475G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474643 | |||||||
| chr3:50474653 | T | G | 1 | a0001c0001t0002g0067 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.288+1465A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474653 | |||||||
| chr3:50474802 | C | G | 1 | a0001c0001t0001g0216 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.288+1316G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474802 | |||||||
| chr3:50474830 | T | C | 4 | a0001c0002t0001g0079 a0001c0002t0006g0010 a0001c0002t0006g0013 others(1): Show |
4 | HG02055.hp1 HG02280.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+1288A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474830 | |||||||
| chr3:50474838 | C | T | 1 | a0001c0001t0002g0055 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.288+1280G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50474838 | |||||||
| chr3:50475174 | C | T | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.288+944G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475174 | |||||||
| chr3:50475300 | G | A | 1 | a0001c0001t0001g0108 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.288+818C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475300 | |||||||
| chr3:50475373 | C | T | 4 | a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 others(1): Show |
4 | HG02055.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.288+745G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475373 | |||||||
| chr3:50475437 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.288+681C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475437 | |||||||
| chr3:50475503 | C | A | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.288+615G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475503 | |||||||
| chr3:50475543 | C | T | 5 | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(2): Show |
5 | HG00099.hp2 HG00735.hp1 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.288+575G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475543 | |||||||
| chr3:50475726 | A | G | 209 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(206): Show |
209 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(206): Show |
intron_variant | MODIFIER | c.288+392T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475726 | |||||||
| chr3:50475730 | ACCGGCCA others(2): Show |
A | 17 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(14): Show |
17 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.288+379_288+387del others(9): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475730 | |||||||
| chr3:50475902 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.288+216C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | 50475902 | |||||||
| chr3:50476206 | G | A | 1 | a0001c0001t0018g0077 | 1 | HG02735.hp1 | splice_region_variant&intron_variant | LOW | c.207-7C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50476206 | |||||||
| chr3:50476400 | C | T | 2 | a0001c0001t0004g0094 a0001c0001t0004g0095 |
2 | HG00323.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.207-201G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50476400 | |||||||
| chr3:50476929 | C | CT | 11 | a0001c0001t0001g0135 a0001c0001t0001g0225 a0001c0001t0002g0049 others(8): Show |
11 | HG00673.hp2 HG01884.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.207-731dupA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50476929 | |||||||
| chr3:50476929 | CT | C | 9 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | HG02071.hp2 HG02258.hp2 HG02735.hp1 others(6): Show |
intron_variant | MODIFIER | c.207-731delA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50476929 | |||||||
| chr3:50477016 | G | A | 20 | a0001c0001t0019g0031 a0001c0001t0022g0097 a0002c0003t0003g0032 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG02258.hp2 others(17): Show |
intron_variant | MODIFIER | c.207-817C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50477016 | |||||||
| chr3:50477181 | A | G | 130 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(127): Show |
130 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.207-982T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50477181 | |||||||
| chr3:50477536 | G | A | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.207-1337C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50477536 | |||||||
| chr3:50477581 | C | T | 4 | a0001c0002t0001g0079 a0001c0002t0006g0010 a0001c0002t0006g0013 others(1): Show |
4 | HG02055.hp1 HG02280.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.207-1382G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50477581 | |||||||
| chr3:50477940 | G | T | 3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-1741C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50477940 | |||||||
| chr3:50478037 | T | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.207-1838A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478037 | |||||||
| chr3:50478093 | C | T | 1 | a0001c0001t0001g0123 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.207-1894G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478093 | |||||||
| chr3:50478169 | C | A | 70 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(67): Show |
70 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(67): Show |
intron_variant | MODIFIER | c.207-1970G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478169 | |||||||
| chr3:50478267 | G | A | 1 | a0001c0001t0001g0104 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.207-2068C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478267 | |||||||
| chr3:50478269 | G | A | 19 | a0001c0001t0022g0097 a0002c0003t0003g0032 a0002c0003t0003g0035 others(16): Show |
19 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(16): Show |
intron_variant | MODIFIER | c.207-2070C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478269 | |||||||
| chr3:50478319 | G | A | 8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.207-2120C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478319 | |||||||
| chr3:50478889 | T | C | 6 | a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 others(3): Show |
6 | HG02486.hp1 HG02559.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.207-2690A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478889 | |||||||
| chr3:50478947 | T | G | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.207-2748A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50478947 | |||||||
| chr3:50479168 | T | C | 34 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(31): Show |
34 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(31): Show |
intron_variant | MODIFIER | c.207-2969A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479168 | |||||||
| chr3:50479217 | T | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.207-3018A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479217 | |||||||
| chr3:50479222 | C | T | 2 | a0001c0002t0006g0010 a0001c0002t0006g0013 |
2 | HG02055.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.207-3023G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479222 | |||||||
| chr3:50479275 | A | T | 4 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 others(1): Show |
4 | HG01943.hp1 HG01975.hp1 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.207-3076T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479275 | |||||||
| chr3:50479316 | C | A | 1 | a0001c0001t0001g0121 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.207-3117G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479316 | |||||||
| chr3:50479523 | G | A | 1 | a0001c0001t0030g0155 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.207-3324C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479523 | |||||||
| chr3:50479698 | A | C | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.207-3499T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479698 | |||||||
| chr3:50479710 | TG | T | 23 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(20): Show |
23 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(20): Show |
intron_variant | MODIFIER | c.207-3512delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479710 | |||||||
| chr3:50479719 | C | G | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.207-3520G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479719 | |||||||
| chr3:50479899 | T | C | 2 | a0002c0003t0003g0179 a0002c0003t0003g0180 |
2 | HG02451.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.207-3700A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50479899 | |||||||
| chr3:50480115 | T | C | 1 | a0001c0001t0002g0198 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.207-3916A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480115 | |||||||
| chr3:50480238 | G | T | 14 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(11): Show |
14 | HG00408.hp1 HG00673.hp1 HG00735.hp1 others(11): Show |
intron_variant | MODIFIER | c.207-4039C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480238 | |||||||
| chr3:50480254 | G | T | 1 | a0003c0004t0008g0002 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.207-4055C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480254 | |||||||
| chr3:50480543 | A | G | 3 | a0001c0001t0001g0098 a0001c0001t0001g0133 a0001c0001t0023g0226 |
3 | HG02451.hp2 HG02818.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.207-4344T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480543 | |||||||
| chr3:50480665 | T | G | 1 | a0001c0001t0001g0045 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.207-4466A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480665 | |||||||
| chr3:50480858 | G | C | 1 | a0001c0001t0020g0154 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.207-4659C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480858 | |||||||
| chr3:50480935 | G | GAAGGGGG others(244): Show |
1 | a0001c0001t0011g0212 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(253): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(186): Show |
1 | a0001c0001t0005g0014 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(195): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(175): Show |
1 | a0001c0001t0005g0016 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(184): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(196): Show |
1 | a0001c0001t0005g0024 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(205): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(293): Show |
1 | a0001c0001t0002g0186 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(302): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(166): Show |
1 | a0001c0001t0002g0187 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(175): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(273): Show |
1 | a0002c0003t0003g0167 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(282): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(196): Show |
2 | a0001c0001t0001g0114 a0001c0001t0002g0056 |
2 | HG02040.hp1 HG02040.hp2 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(205): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(205): Show |
1 | a0001c0001t0004g0046 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(214): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(178): Show |
1 | a0001c0001t0001g0045 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(187): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(315): Show |
1 | a0001c0001t0002g0055 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(324): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(245): Show |
1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(254): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(167): Show |
1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(176): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(318): Show |
1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(327): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(381): Show |
9 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0037 others(6): Show |
9 | HG01167.hp2 HG01169.hp2 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(390): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(382): Show |
1 | a0001c0002t0001g0111 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(391): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(383): Show |
1 | a0001c0002t0001g0034 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(392): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(421): Show |
1 | a0001c0002t0001g0090 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(430): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(381): Show |
4 | a0001c0002t0001g0079 a0001c0002t0006g0010 a0002c0003t0003g0035 others(1): Show |
4 | HG02572.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(390): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(401): Show |
4 | a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 others(1): Show |
4 | HG02559.hp1 HG02886.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(410): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(371): Show |
1 | a0001c0002t0013g0231 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(380): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(403): Show |
1 | a0001c0002t0001g0083 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(412): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(322): Show |
2 | a0001c0002t0001g0222 a0001c0002t0001g0223 |
2 | HG01884.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(331): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(383): Show |
1 | a0001c0002t0006g0013 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(392): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(166): Show |
1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(175): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(518): Show |
1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(527): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(166): Show |
3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(175): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(194): Show |
1 | a0003c0011t0008g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(203): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(176): Show |
2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(185): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(357): Show |
1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(366): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGGGGG others(97): Show |
1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(106): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(175): Show |
1 | a0001c0001t0001g0126 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(184): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(205): Show |
1 | a0001c0001t0001g0152 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(214): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(204): Show |
4 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0153 others(1): Show |
4 | HG00609.hp1 HG00621.hp1 HG02015.hp2 others(1): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(213): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(176): Show |
2 | a0001c0001t0001g0156 a0001c0001t0001g0160 |
2 | NA18943.hp2 NA18948.hp1 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(185): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(244): Show |
1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(253): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(233): Show |
1 | a0001c0001t0001g0098 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(242): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(234): Show |
3 | a0001c0001t0001g0162 a0001c0001t0004g0164 a0001c0001t0021g0165 |
3 | HG02074.hp2 HG02155.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(243): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(234): Show |
1 | a0001c0001t0018g0077 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(243): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(234): Show |
8 | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(5): Show |
8 | HG02071.hp2 HG02451.hp2 NA18942.hp1 others(5): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(243): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(146): Show |
1 | a0001c0001t0001g0132 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(155): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(176): Show |
70 | a0001c0001t0001g0042 a0001c0001t0001g0081 a0001c0001t0001g0082 others(67): Show |
70 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(67): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(185): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(300): Show |
3 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 |
3 | HG02970.hp2 HG03453.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(309): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(177): Show |
1 | a0001c0001t0001g0121 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(186): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(177): Show |
1 | a0001c0001t0001g0119 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(186): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(186): Show |
1 | a0001c0001t0001g0127 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(195): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(177): Show |
1 | a0001c0001t0001g0124 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(186): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(158): Show |
4 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 others(1): Show |
4 | HG01943.hp1 HG01975.hp1 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.207-4737_207-4736i others(167): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(148): Show |
1 | a0001c0001t0001g0104 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(157): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(235): Show |
1 | a0001c0001t0001g0133 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.207-4737_207-4736i others(244): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(177): Show |
3 | a0001c0001t0001g0080 a0001c0001t0001g0118 a0001c0001t0001g0183 |
3 | HG01496.hp1 HG02258.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.207-4737_207-4736i others(186): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50480935 | G | GAAGTGGG others(195): Show |
1 | a0001c0001t0001g0163 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.207-4737_207-4736i others(204): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50480935 | |||||||
| chr3:50481324 | A | C | 1 | a0001c0001t0001g0202 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.207-5125T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481324 | |||||||
| chr3:50481504 | G | C | 69 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0047 others(66): Show |
69 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(66): Show |
intron_variant | MODIFIER | c.207-5305C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481504 | |||||||
| chr3:50481535 | C | T | 1 | a0001c0001t0004g0161 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.207-5336G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481535 | |||||||
| chr3:50481710 | T | C | 4 | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 others(1): Show |
4 | HG00735.hp1 HG01071.hp1 HG02145.hp2 others(1): Show |
intron_variant | MODIFIER | c.207-5511A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481710 | |||||||
| chr3:50481813 | C | T | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.207-5614G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481813 | |||||||
| chr3:50481846 | A | C | 3 | a0001c0001t0001g0149 a0001c0001t0006g0006 a0001c0001t0006g0007 |
3 | HG02486.hp2 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-5647T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481846 | |||||||
| chr3:50481961 | T | C | 179 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(176): Show |
179 | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(176): Show |
intron_variant | MODIFIER | c.207-5762A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50481961 | |||||||
| chr3:50482582 | A | T | 3 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 |
3 | HG02258.hp1 HG02897.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.207-6383T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50482582 | |||||||
| chr3:50482697 | T | C | 95 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(92): Show |
95 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(92): Show |
intron_variant | MODIFIER | c.207-6498A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50482697 | |||||||
| chr3:50482766 | G | A | 2 | a0001c0001t0001g0135 a0001c0001t0001g0225 |
2 | HG03017.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.207-6567C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50482766 | |||||||
| chr3:50482804 | T | C | 4 | a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0137 others(1): Show |
4 | HG01192.hp1 HG01981.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.207-6605A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50482804 | |||||||
| chr3:50483103 | G | T | 2 | a0001c0001t0002g0053 a0001c0001t0002g0054 |
2 | HG00408.hp2 NA19007.hp2 |
intron_variant | MODIFIER | c.207-6904C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483103 | |||||||
| chr3:50483208 | C | A | 15 | a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 others(12): Show |
15 | HG00438.hp2 HG00621.hp2 HG02071.hp1 others(12): Show |
intron_variant | MODIFIER | c.207-7009G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483208 | |||||||
| chr3:50483264 | T | C | 77 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(74): Show |
77 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.207-7065A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483264 | |||||||
| chr3:50483379 | C | T | 1 | a0001c0001t0001g0162 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.207-7180G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483379 | |||||||
| chr3:50483396 | G | A | 3 | a0001c0002t0006g0010 a0001c0002t0006g0013 a0001c0002t0013g0231 |
3 | HG02055.hp1 HG02280.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.207-7197C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483396 | |||||||
| chr3:50483746 | C | G | 77 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(74): Show |
77 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(74): Show |
intron_variant | MODIFIER | c.207-7547G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483746 | |||||||
| chr3:50483786 | G | A | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.207-7587C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483786 | |||||||
| chr3:50483971 | G | A | 76 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0149 others(73): Show |
76 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(73): Show |
intron_variant | MODIFIER | c.207-7772C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50483971 | |||||||
| chr3:50484205 | T | C | 2 | a0001c0001t0001g0117 a0001c0001t0014g0233 |
2 | HG02273.hp1 NA18967.hp1 |
intron_variant | MODIFIER | c.207-8006A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484205 | |||||||
| chr3:50484259 | G | A | 1 | a0001c0001t0001g0207 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.207-8060C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484259 | |||||||
| chr3:50484281 | C | T | 1 | a0001c0002t0001g0079 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.207-8082G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484281 | |||||||
| chr3:50484422 | C | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8223G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484422 | |||||||
| chr3:50484423 | G | A | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8224C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484423 | |||||||
| chr3:50484424 | C | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8225G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484424 | |||||||
| chr3:50484427 | T | A | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8228A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484427 | |||||||
| chr3:50484428 | A | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8229T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484428 | |||||||
| chr3:50484431 | A | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8232T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484431 | |||||||
| chr3:50484441 | A | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8242T>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484441 | |||||||
| chr3:50484448 | C | T | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8249G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484448 | |||||||
| chr3:50484460 | C | T | 1 | a0001c0001t0001g0153 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.207-8261G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484460 | |||||||
| chr3:50484632 | G | A | 155 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(152): Show |
155 | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(152): Show |
intron_variant | MODIFIER | c.207-8433C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484632 | |||||||
| chr3:50484657 | T | C | 1 | a0001c0001t0007g0027 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.207-8458A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484657 | |||||||
| chr3:50484664 | C | A | 1 | a0001c0001t0002g0049 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.207-8465G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484664 | |||||||
| chr3:50484688 | C | T | 16 | a0001c0001t0001g0041 a0001c0001t0022g0097 a0001c0002t0013g0231 others(13): Show |
16 | HG01074.hp1 HG01243.hp1 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.207-8489G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484688 | |||||||
| chr3:50484702 | G | T | 1 | a0001c0001t0001g0122 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.207-8503C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484702 | |||||||
| chr3:50484752 | G | C | 20 | a0001c0001t0001g0227 a0001c0001t0022g0097 a0001c0001t0024g0088 others(17): Show |
20 | HG01074.hp1 HG01243.hp1 HG01884.hp1 others(17): Show |
intron_variant | MODIFIER | c.207-8553C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484752 | |||||||
| chr3:50484802 | C | T | 1 | a0001c0002t0001g0222 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.207-8603G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484802 | |||||||
| chr3:50484931 | G | A | 3 | a0001c0001t0002g0078 a0001c0001t0002g0229 a0001c0001t0017g0089 |
3 | HG02071.hp2 NA18945.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.207-8732C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484931 | |||||||
| chr3:50484993 | C | T | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-8794G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50484993 | |||||||
| chr3:50485020 | C | T | 1 | a0001c0001t0001g0121 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.207-8821G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485020 | |||||||
| chr3:50485195 | C | T | 1 | a0002c0003t0003g0167 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.207-8996G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485195 | |||||||
| chr3:50485272 | C | T | 3 | a0003c0004t0008g0004 a0003c0010t0015g0003 a0003c0011t0008g0001 |
3 | HG01934.hp1 HG02723.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.207-9073G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485272 | |||||||
| chr3:50485287 | T | C | 1 | a0001c0001t0006g0030 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.207-9088A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485287 | |||||||
| chr3:50485403 | C | T | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-9204G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485403 | |||||||
| chr3:50485446 | T | C | 52 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0075 others(49): Show |
52 | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(49): Show |
intron_variant | MODIFIER | c.207-9247A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485446 | |||||||
| chr3:50485705 | G | A | 1 | a0001c0001t0002g0052 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.207-9506C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485705 | |||||||
| chr3:50485755 | C | T | 2 | a0001c0002t0001g0033 a0001c0002t0001g0034 |
2 | HG02145.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.207-9556G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485755 | |||||||
| chr3:50485932 | A | C | 3 | a0002c0003t0003g0032 a0002c0003t0003g0169 a0002c0003t0003g0170 |
3 | HG01243.hp1 HG03516.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.207-9733T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485932 | |||||||
| chr3:50485989 | G | A | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-9790C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50485989 | |||||||
| chr3:50486063 | T | G | 52 | a0001c0001t0001g0045 a0001c0001t0001g0227 a0001c0001t0002g0044 others(49): Show |
52 | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(49): Show |
intron_variant | MODIFIER | c.207-9864A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50486063 | |||||||
| chr3:50486065 | C | CT | 52 | a0001c0001t0001g0045 a0001c0001t0001g0227 a0001c0001t0002g0044 others(49): Show |
52 | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(49): Show |
intron_variant | MODIFIER | c.207-9867dupA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50486065 | |||||||
| chr3:50486067 | G | C | 52 | a0001c0001t0001g0045 a0001c0001t0001g0227 a0001c0001t0002g0044 others(49): Show |
52 | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(49): Show |
intron_variant | MODIFIER | c.207-9868C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50486067 | |||||||
| chr3:50486202 | C | T | 1 | a0001c0001t0001g0103 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.207-10003G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50486202 | |||||||
| chr3:50486237 | A | G | 130 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(127): Show |
130 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(127): Show |
intron_variant | MODIFIER | c.207-10038T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50486237 | |||||||
| chr3:50486790 | C | T | 126 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(123): Show |
126 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(123): Show |
intron_variant | MODIFIER | c.207-10591G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50486790 | |||||||
| chr3:50487021 | G | A | 1 | a0001c0007t0001g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.207-10822C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487021 | |||||||
| chr3:50487031 | C | T | 1 | a0001c0001t0002g0186 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.207-10832G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487031 | |||||||
| chr3:50487060 | T | C | 3 | a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 |
3 | HG01884.hp2 HG02970.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.207-10861A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487060 | |||||||
| chr3:50487065 | G | A | 1 | a0001c0001t0002g0068 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.207-10866C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487065 | |||||||
| chr3:50487127 | C | G | 125 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(122): Show |
125 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(122): Show |
intron_variant | MODIFIER | c.207-10928G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487127 | |||||||
| chr3:50487192 | AG | A | 71 | a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0076 others(68): Show |
71 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(68): Show |
intron_variant | MODIFIER | c.207-10994delC | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487192 | |||||||
| chr3:50487323 | G | A | 2 | a0001c0001t0004g0150 a0001c0001t0004g0151 |
2 | NA19010.hp1 NA19066.hp2 |
intron_variant | MODIFIER | c.207-11124C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487323 | |||||||
| chr3:50487401 | C | T | 2 | a0001c0002t0001g0033 a0001c0002t0001g0034 |
2 | HG02145.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.207-11202G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487401 | |||||||
| chr3:50487586 | C | A | 125 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(122): Show |
125 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(122): Show |
intron_variant | MODIFIER | c.207-11387G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487586 | |||||||
| chr3:50487717 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0002g0120 |
2 | HG00597.hp2 HG02132.hp2 |
intron_variant | MODIFIER | c.207-11518C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487717 | |||||||
| chr3:50487723 | C | T | 34 | a0001c0001t0001g0042 a0001c0001t0001g0091 a0001c0001t0001g0103 others(31): Show |
34 | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.207-11524G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487723 | |||||||
| chr3:50487788 | T | C | 1 | a0001c0002t0001g0224 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.207-11589A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50487788 | |||||||
| chr3:50488183 | G | A | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.207-11984C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488183 | |||||||
| chr3:50488188 | G | A | 8 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0069 others(5): Show |
8 | HG01081.hp2 HG01192.hp2 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.207-11989C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488188 | |||||||
| chr3:50488204 | C | T | 1 | a0001c0001t0002g0052 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.207-12005G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488204 | |||||||
| chr3:50488272 | G | C | 2 | a0001c0001t0001g0152 a0001c0001t0001g0153 |
2 | HG00609.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.207-12073C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488272 | |||||||
| chr3:50488453 | C | T | 1 | a0003c0004t0008g0005 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.207-12254G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488453 | |||||||
| chr3:50488698 | T | G | 3 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 |
3 | HG02258.hp1 HG02897.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.207-12499A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488698 | |||||||
| chr3:50488786 | G | A | 3 | a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0020g0154 |
3 | HG00099.hp1 HG00323.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.207-12587C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488786 | |||||||
| chr3:50488922 | G | A | 17 | a0001c0001t0001g0171 a0002c0003t0003g0032 a0002c0003t0003g0167 others(14): Show |
17 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(14): Show |
intron_variant | MODIFIER | c.207-12723C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50488922 | |||||||
| chr3:50489449 | T | C | 127 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(124): Show |
127 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(124): Show |
intron_variant | MODIFIER | c.207-13250A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489449 | |||||||
| chr3:50489569 | G | A | 1 | a0001c0001t0005g0024 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.207-13370C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489569 | |||||||
| chr3:50489616 | A | ACTGGGG | 75 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0075 others(72): Show |
75 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(72): Show |
intron_variant | MODIFIER | c.207-13423_207-1341 others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489616 | |||||||
| chr3:50489616 | ACTGGGG | A | 16 | a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0187 others(13): Show |
16 | HG00438.hp2 HG00621.hp2 HG02071.hp1 others(13): Show |
intron_variant | MODIFIER | c.207-13423_207-1341 others(10): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489616 | |||||||
| chr3:50489616 | ACTGGGGC others(5): Show |
A | 2 | a0001c0001t0001g0160 a0001c0001t0005g0025 |
2 | HG04228.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.207-13429_207-1341 others(16): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489616 | |||||||
| chr3:50489744 | T | G | 1 | a0003c0004t0008g0005 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.206+13474A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489744 | |||||||
| chr3:50489787 | G | A | 42 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0184 others(39): Show |
42 | HG00099.hp2 HG00438.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.206+13431C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489787 | |||||||
| chr3:50489928 | T | TC | 23 | a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0081 others(20): Show |
23 | HG01884.hp2 HG02145.hp1 HG02258.hp1 others(20): Show |
intron_variant | MODIFIER | c.206+13289dupG | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489928 | |||||||
| chr3:50489952 | G | A | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.206+13266C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50489952 | |||||||
| chr3:50490118 | T | G | 44 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0184 others(41): Show |
44 | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(41): Show |
intron_variant | MODIFIER | c.206+13100A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490118 | |||||||
| chr3:50490435 | A | G | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.206+12783T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490435 | |||||||
| chr3:50490443 | T | C | 135 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(132): Show |
135 | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(132): Show |
intron_variant | MODIFIER | c.206+12775A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490443 | |||||||
| chr3:50490483 | C | T | 30 | a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0081 others(27): Show |
30 | HG01884.hp1 HG01884.hp2 HG01934.hp1 others(27): Show |
intron_variant | MODIFIER | c.206+12735G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490483 | |||||||
| chr3:50490661 | G | C | 104 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(101): Show |
104 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(101): Show |
intron_variant | MODIFIER | c.206+12557C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490661 | |||||||
| chr3:50490781 | C | T | 41 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0184 others(38): Show |
41 | HG00099.hp2 HG00438.hp2 HG00621.hp2 others(38): Show |
intron_variant | MODIFIER | c.206+12437G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490781 | |||||||
| chr3:50490834 | CAAG | C | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.206+12381_206+1238 others(7): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50490834 | |||||||
| chr3:50491010 | C | G | 15 | a0001c0001t0001g0171 a0002c0003t0003g0032 a0002c0003t0003g0167 others(12): Show |
15 | HG01074.hp1 HG01243.hp1 HG02451.hp1 others(12): Show |
intron_variant | MODIFIER | c.206+12208G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50491010 | |||||||
| chr3:50491055 | G | T | 2 | a0002c0003t0003g0167 a0002c0003t0025g0168 |
2 | HG02818.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.206+12163C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50491055 | |||||||
| chr3:50491484 | C | T | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.206+11734G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50491484 | |||||||
| chr3:50492073 | C | T | 3 | a0001c0001t0002g0101 a0001c0001t0004g0100 a0001c0001t0011g0099 |
3 | HG02735.hp2 NA18747.hp1 NA19064.hp2 |
intron_variant | MODIFIER | c.206+11145G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50492073 | |||||||
| chr3:50492185 | G | A | 2 | a0003c0004t0008g0002 a0003c0004t0008g0005 |
2 | HG02886.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.206+11033C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50492185 | |||||||
| chr3:50492385 | C | T | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.206+10833G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50492385 | |||||||
| chr3:50492475 | A | G | 1 | a0001c0001t0004g0185 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.206+10743T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50492475 | |||||||
| chr3:50492555 | C | T | 27 | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(24): Show |
27 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.206+10663G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50492555 | |||||||
| chr3:50492616 | C | T | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.206+10602G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50492616 | |||||||
| chr3:50493002 | CAT | C | 4 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0004g0164 others(1): Show |
4 | HG02074.hp2 HG02155.hp2 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.206+10214_206+1021 others(6): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50493002 | |||||||
| chr3:50493115 | T | C | 1 | a0001c0001t0001g0166 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.206+10103A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50493115 | |||||||
| chr3:50493244 | C | T | 1 | a0001c0001t0001g0098 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.206+9974G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50493244 | |||||||
| chr3:50493770 | C | A | 132 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(129): Show |
132 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(129): Show |
intron_variant | MODIFIER | c.206+9448G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50493770 | |||||||
| chr3:50493777 | C | T | 1 | a0001c0001t0005g0009 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.206+9441G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50493777 | |||||||
| chr3:50494259 | G | A | 2 | a0001c0001t0004g0046 a0001c0001t0004g0092 |
2 | HG03654.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.206+8959C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50494259 | |||||||
| chr3:50494404 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.206+8814C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50494404 | |||||||
| chr3:50494575 | A | G | 44 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0184 others(41): Show |
44 | HG00099.hp2 HG00438.hp2 HG00621.hp2 others(41): Show |
intron_variant | MODIFIER | c.206+8643T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50494575 | |||||||
| chr3:50495045 | C | T | 1 | a0001c0001t0022g0097 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.206+8173G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50495045 | |||||||
| chr3:50495208 | G | A | 2 | a0001c0001t0007g0026 a0001c0001t0007g0027 |
2 | NA18966.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.206+8010C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50495208 | |||||||
| chr3:50495355 | T | C | 1 | a0001c0002t0001g0182 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.206+7863A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50495355 | |||||||
| chr3:50495362 | T | C | 26 | a0001c0001t0001g0040 a0001c0001t0001g0080 a0001c0001t0001g0081 others(23): Show |
26 | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(23): Show |
intron_variant | MODIFIER | c.206+7856A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50495362 | |||||||
| chr3:50495469 | C | T | 27 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(24): Show |
27 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(24): Show |
intron_variant | MODIFIER | c.206+7749G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50495469 | |||||||
| chr3:50496312 | C | T | 2 | a0001c0001t0001g0227 a0001c0007t0001g0050 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.206+6906G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496312 | |||||||
| chr3:50496360 | C | T | 1 | a0001c0001t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.206+6858G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496360 | |||||||
| chr3:50496429 | C | T | 1 | a0001c0001t0001g0096 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.206+6789G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496429 | |||||||
| chr3:50496610 | C | G | 2 | a0001c0001t0004g0094 a0001c0001t0004g0095 |
2 | HG00323.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.206+6608G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496610 | |||||||
| chr3:50496698 | G | T | 31 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(28): Show |
31 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.206+6520C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496698 | |||||||
| chr3:50496784 | GT | G | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.206+6433delA | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496784 | |||||||
| chr3:50496786 | T | A | 2 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | HG02572.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.206+6432A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496786 | |||||||
| chr3:50496787 | G | A | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.206+6431C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496787 | |||||||
| chr3:50496919 | A | G | 29 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(26): Show |
29 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.206+6299T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50496919 | |||||||
| chr3:50497204 | G | A | 62 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0075 others(59): Show |
62 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.206+6014C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50497204 | |||||||
| chr3:50497279 | A | G | 2 | a0001c0001t0001g0227 a0001c0007t0001g0050 |
2 | HG01884.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.206+5939T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50497279 | |||||||
| chr3:50497505 | G | A | 1 | a0001c0001t0001g0183 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.206+5713C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50497505 | |||||||
| chr3:50497574 | A | C | 1 | a0001c0001t0001g0093 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.206+5644T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50497574 | |||||||
| chr3:50497764 | C | A | 31 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(28): Show |
31 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.206+5454G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50497764 | |||||||
| chr3:50497790 | C | T | 31 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(28): Show |
31 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.206+5428G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50497790 | |||||||
| chr3:50498209 | A | G | 1 | a0001c0002t0001g0218 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.206+5009T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498209 | |||||||
| chr3:50498484 | C | G | 32 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0002g0049 others(29): Show |
32 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(29): Show |
intron_variant | MODIFIER | c.206+4734G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498484 | |||||||
| chr3:50498515 | C | T | 2 | a0001c0001t0002g0047 a0001c0001t0002g0048 |
2 | HG01081.hp2 HG01192.hp2 |
intron_variant | MODIFIER | c.206+4703G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498515 | |||||||
| chr3:50498583 | T | C | 11 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(8): Show |
11 | HG01884.hp2 HG02145.hp1 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.206+4635A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498583 | |||||||
| chr3:50498599 | C | T | 1 | a0001c0001t0002g0184 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.206+4619G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498599 | |||||||
| chr3:50498661 | A | G | 31 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(28): Show |
31 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(28): Show |
intron_variant | MODIFIER | c.206+4557T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498661 | |||||||
| chr3:50498842 | C | A | 31 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(28): Show |
31 | HG00408.hp1 HG00438.hp2 HG00609.hp2 others(28): Show |
intron_variant | MODIFIER | c.206+4376G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498842 | |||||||
| chr3:50498866 | T | G | 2 | a0001c0001t0001g0213 a0001c0001t0001g0214 |
2 | NA18983.hp1 NA19010.hp2 |
intron_variant | MODIFIER | c.206+4352A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498866 | |||||||
| chr3:50498952 | C | G | 29 | a0001c0001t0001g0045 a0001c0001t0002g0044 a0001c0001t0004g0046 others(26): Show |
29 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(26): Show |
intron_variant | MODIFIER | c.206+4266G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50498952 | |||||||
| chr3:50499022 | T | C | 2 | a0003c0004t0008g0002 a0003c0004t0008g0005 |
2 | HG02886.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.206+4196A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499022 | |||||||
| chr3:50499166 | T | G | 1 | a0001c0001t0002g0215 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.206+4052A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499166 | |||||||
| chr3:50499185 | G | T | 1 | a0001c0001t0024g0088 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.206+4033C>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499185 | |||||||
| chr3:50499395 | T | A | 6 | a0001c0001t0001g0041 a0001c0001t0001g0227 a0001c0001t0024g0088 others(3): Show |
6 | HG01934.hp1 HG02280.hp2 HG06807.hp2 others(3): Show |
intron_variant | MODIFIER | c.206+3823A>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499395 | |||||||
| chr3:50499486 | C | A | 2 | a0001c0001t0013g0232 a0001c0002t0013g0231 |
2 | HG02280.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.206+3732G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499486 | |||||||
| chr3:50499617 | A | G | 30 | a0001c0001t0001g0091 a0001c0001t0001g0216 a0001c0001t0001g0217 others(27): Show |
30 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(27): Show |
intron_variant | MODIFIER | c.206+3601T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499617 | |||||||
| chr3:50499928 | T | G | 2 | a0001c0001t0001g0216 a0001c0001t0001g0217 |
2 | HG02738.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.206+3290A>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50499928 | |||||||
| chr3:50500251 | G | GC | 94 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(91): Show |
94 | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(91): Show |
intron_variant | MODIFIER | c.206+2966dupG | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50500251 | |||||||
| chr3:50500284 | C | A | 1 | a0001c0001t0001g0225 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.206+2934G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50500284 | |||||||
| chr3:50500407 | G | A | 1 | a0001c0001t0023g0226 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.206+2811C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50500407 | |||||||
| chr3:50500671 | C | A | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.206+2547G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50500671 | |||||||
| chr3:50501166 | C | T | 5 | a0003c0004t0008g0002 a0003c0004t0008g0004 a0003c0004t0008g0005 others(2): Show |
5 | HG01934.hp1 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.206+2052G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501166 | |||||||
| chr3:50501169 | G | C | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+2049C>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501169 | |||||||
| chr3:50501487 | G | A | 1 | a0001c0001t0017g0089 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.206+1731C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501487 | |||||||
| chr3:50501564 | C | T | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+1654G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501564 | |||||||
| chr3:50501694 | C | T | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.206+1524G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501694 | |||||||
| chr3:50501754 | C | A | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+1464G>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501754 | |||||||
| chr3:50501765 | T | C | 1 | a0001c0002t0001g0090 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.206+1453A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501765 | |||||||
| chr3:50501788 | A | G | 54 | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0075 others(51): Show |
54 | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.206+1430T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501788 | |||||||
| chr3:50501832 | G | A | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+1386C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501832 | |||||||
| chr3:50501884 | C | T | 1 | a0001c0001t0005g0008 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.206+1334G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501884 | |||||||
| chr3:50501909 | C | T | 1 | a0001c0001t0002g0043 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.206+1309G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501909 | |||||||
| chr3:50501926 | G | A | 1 | a0001c0001t0001g0227 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.206+1292C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501926 | |||||||
| chr3:50501952 | A | G | 1 | a0001c0001t0001g0042 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.206+1266T>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501952 | |||||||
| chr3:50501993 | G | A | 1 | a0001c0001t0026g0228 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.206+1225C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50501993 | |||||||
| chr3:50502096 | A | C | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+1122T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502096 | |||||||
| chr3:50502164 | C | T | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+1054G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502164 | |||||||
| chr3:50502185 | G | A | 5 | a0003c0004t0008g0002 a0003c0004t0008g0004 a0003c0004t0008g0005 others(2): Show |
5 | HG01934.hp1 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.206+1033C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502185 | |||||||
| chr3:50502344 | A | C | 1 | a0001c0001t0001g0041 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.206+874T>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502344 | |||||||
| chr3:50502365 | G | A | 1 | a0001c0001t0002g0229 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.206+853C>T | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502365 | |||||||
| chr3:50502754 | C | T | 2 | a0001c0001t0006g0006 a0001c0001t0006g0007 |
2 | HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.206+464G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502754 | |||||||
| chr3:50502849 | C | T | 8 | a0001c0001t0001g0040 a0001c0002t0001g0033 a0001c0002t0001g0034 others(5): Show |
8 | HG02145.hp1 HG02615.hp2 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.206+369G>A | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502849 | |||||||
| chr3:50502936 | GC | G | 24 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(21): Show |
24 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(21): Show |
intron_variant | MODIFIER | c.206+281delG | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502936 | |||||||
| chr3:50502944 | C | G | 1 | a0002c0003t0003g0032 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.206+274G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502944 | |||||||
| chr3:50502994 | T | C | 25 | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
intron_variant | MODIFIER | c.206+224A>G | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50502994 | |||||||
| chr3:50503003 | C | G | 5 | a0003c0004t0008g0002 a0003c0004t0008g0004 a0003c0004t0008g0005 others(2): Show |
5 | HG01934.hp1 HG02723.hp2 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.206+215G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50503003 | |||||||
| chr3:50503105 | C | G | 1 | a0001c0001t0019g0031 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.206+113G>C | CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | 50503105 |