Item | Value |
---|---|
geneid | 101060233 |
ensemblid | ENSG00000269433.4 |
hgncid | 51831 |
symbol | OPN1MW3 |
name | opsin 1, medium wave sensitive 3 |
refseq_nuc | NM_001330067.2 |
refseq_prot | NP_001316996.1 |
ensembl_nuc | ENST00000599405.4 |
ensembl_prot | ENSP00000469970.1 |
mane_status | MANE Select |
chr | chrX |
start | 154257582 |
end | 154271090 |
strand | + |
ver | v1.2 |
region | chrX:154257582-154271090 |
region5000 | chrX:154252582-154276090 |
regionname0 | OPN1MW3_chrX_154257582_154271090 |
regionname5000 | OPN1MW3_chrX_154252582_154276090 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 364 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | MAQQW others(359): Show |
chrX | 154252582 | 154276090 |
a0002 | 0/0 | 364 | 2 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | MAQQW others(359): Show |
chrX | 154252582 | 154276090 |
a0003 | 0/0 | 364 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | MAQQW others(359): Show |
chrX | 154252582 | 154276090 |
a0004 | 0/0 | 364 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | MAQQW others(359): Show |
chrX | 154252582 | 154276090 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002 | 0/0 | 1092 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | ATGGC others(1087): Show |
chrX | 154252582 | 154276090 | ||
a0001c0006 | 0/0 | 1092 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | ATGGC others(1087): Show |
chrX | 154252582 | 154276090 | ||
a0002c0003 | 0/0 | 1092 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | ATGGC others(1087): Show |
chrX | 154252582 | 154276090 | ||
a0002c0004 | 0/0 | 1092 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | ATGGC others(1087): Show |
chrX | 154252582 | 154276090 | ||
a0003c0001 | 0/0 | 1092 | 2 | 2 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | ATGGC others(1087): Show |
chrX | 154252582 | 154276090 | ||
a0004c0005 | 0/0 | 1092 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | ATGGC others(1087): Show |
chrX | 154252582 | 154276090 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001 | 0/0 | 1239 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | AGGGC others(1234): Show |
chrX | 154252582 | 154276090 |
a0001c0006t0001 | 0/0 | 1239 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | AGGGC others(1234): Show |
chrX | 154252582 | 154276090 |
a0002c0003t0001 | 0/0 | 1239 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | AGGGC others(1234): Show |
chrX | 154252582 | 154276090 |
a0002c0004t0001 | 0/0 | 1239 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | AGGGC others(1234): Show |
chrX | 154252582 | 154276090 |
a0003c0001t0001 | 0/0 | 1239 | 2 | 2 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | AGGGC others(1234): Show |
chrX | 154252582 | 154276090 |
a0004c0005t0002 | 0/0 | 1239 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | AGGGC others(1234): Show |
chrX | 154252582 | 154276090 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0001c0006t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0002c0003t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0002c0004t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0003c0001t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0003c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
a0004c0005t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00621 | hp1 | a0001 | c0006 | t0001 | g0007 | EAS | CHS | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG00642 | hp1 | a0002 | c0004 | t0001 | g0006 | AMR | PUR | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02145 | hp1 | a0004 | c0005 | t0002 | g0003 | AFR | ACB | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02572 | hp1 | a0003 | c0001 | t0001 | g0004 | AFR | GWD | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02717 | hp1 | a0003 | c0001 | t0001 | g0001 | AFR | GWD | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
NA18970 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
HG02486 | hp1 | a0002 | c0003 | t0001 | g0002 | AFR | ACB | OPN1MW3_chrX_154252582_154276090 | OPN1MW3 | chrX | 154252582 | 154276090 |
view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154265107 | C | T | 3 | a0002 a0003 a0004 |
5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
missense_variant | MODERATE | c.521C>T | p.Ala174Val | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 559/1239 | 521/1095 | 174/364 | chrX | 154265107 | |||
chrX:154265118 | A | G | 2 | a0002 a0004 |
3 | HG00642.hp1 HG02145.hp1 HG02486.hp1 |
missense_variant | MODERATE | c.532A>G | p.Ile178Val | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 570/1239 | 532/1095 | 178/364 | chrX | 154265118 | |||
chrX:154270923 | C | T | 1 | a0004 | 1 | HG02145.hp1 | missense_variant | MODERATE | c.1034C>T | p.Ser345Phe | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 1072/1239 | 1034/1095 | 345/364 | chrX | 154270923 |
view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154265051 | C | G | 1 | a0001c0006 | 1 | HG00621.hp1 | synonymous_variant | LOW | c.465C>G | p.Val155Val | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/6 | 503/1239 | 465/1095 | 155/364 | chrX | 154265051 | |||
chrX:154268456 | C | A | 2 | a0001c0002 a0002c0003 |
2 | HG02486.hp1 NA18970.hp1 |
synonymous_variant | LOW | c.849C>A | p.Pro283Pro | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/6 | 887/1239 | 849/1095 | 283/364 | chrX | 154268456 |
view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154271051 | T | G | 1 | a0004c0005t0002 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*67T>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 6/6 | 67 | chrX | 154271051 |
view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:154258207 | G | A | 1 | a0003c0001t0001g0001 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.112+476G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154258207 | |||||||
chrX:154258432 | G | A | 4 | a0002c0003t0001g0002 a0003c0001t0001g0001 a0003c0001t0001g0004 others(1): Show |
4 | HG02145.hp1 HG02486.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.112+701G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154258432 | |||||||
chrX:154258624 | A | C | 1 | a0001c0006t0001g0007 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.112+893A>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154258624 | |||||||
chrX:154260429 | C | T | 5 | a0002c0003t0001g0002 a0002c0004t0001g0006 a0003c0001t0001g0001 others(2): Show |
5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.113-2283C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260429 | |||||||
chrX:154260551 | G | A | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-2161G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260551 | |||||||
chrX:154260576 | GC | G | 2 | a0003c0001t0001g0001 a0003c0001t0001g0004 |
2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.113-2131delC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154260576 | ||||||
chrX:154260986 | T | C | 2 | a0003c0001t0001g0001 a0003c0001t0001g0004 |
2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.113-1726T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154260986 | |||||||
chrX:154261141 | T | C | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1571T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261141 | |||||||
chrX:154261388 | C | T | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1324C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261388 | |||||||
chrX:154261532 | G | C | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1180G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261532 | |||||||
chrX:154261533 | C | G | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-1179C>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261533 | |||||||
chrX:154261585 | CA | C | 3 | a0002c0004t0001g0006 a0003c0001t0001g0004 a0004c0005t0002g0003 |
3 | HG00642.hp1 HG02145.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.113-1111delA | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | 154261585 | ||||||
chrX:154261669 | G | T | 5 | a0002c0003t0001g0002 a0002c0004t0001g0006 a0003c0001t0001g0001 others(2): Show |
5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.113-1043G>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261669 | |||||||
chrX:154261838 | A | C | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-874A>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154261838 | |||||||
chrX:154262284 | G | A | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-428G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262284 | |||||||
chrX:154262480 | T | C | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.113-232T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262480 | |||||||
chrX:154262621 | G | A | 2 | a0002c0004t0001g0006 a0003c0001t0001g0004 |
2 | HG00642.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.113-91G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262621 | |||||||
chrX:154262688 | C | T | 1 | a0001c0006t0001g0007 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.113-24C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 1/5 | chrX | 154262688 | |||||||
chrX:154263402 | T | C | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.409+394T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263402 | |||||||
chrX:154263911 | G | C | 1 | a0002c0004t0001g0006 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.409+903G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263911 | |||||||
chrX:154263940 | A | C | 2 | a0003c0001t0001g0001 a0003c0001t0001g0004 |
2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.409+932A>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263940 | |||||||
chrX:154263957 | A | G | 1 | a0004c0005t0002g0003 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.409+949A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154263957 | |||||||
chrX:154264656 | G | A | 5 | a0002c0003t0001g0002 a0002c0004t0001g0006 a0003c0001t0001g0001 others(2): Show |
5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.410-340G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264656 | |||||||
chrX:154264668 | C | G | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-328C>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264668 | |||||||
chrX:154264669 | G | C | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-327G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264669 | |||||||
chrX:154264735 | C | G | 5 | a0002c0003t0001g0002 a0002c0004t0001g0006 a0003c0001t0001g0001 others(2): Show |
5 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.410-261C>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264735 | |||||||
chrX:154264825 | T | G | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.410-171T>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264825 | |||||||
chrX:154264828 | C | A | 2 | a0003c0001t0001g0001 a0003c0001t0001g0004 |
2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.410-168C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | chrX | 154264828 | |||||||
chrX:154264987 | T | TC | 2 | a0003c0001t0001g0004 a0004c0005t0002g0003 |
2 | HG02145.hp1 HG02572.hp1 |
splice_region_variant&intron_variant | LOW | c.410-5dupC | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrX | 154264987 | ||||||
chrX:154265550 | G | C | 4 | a0002c0004t0001g0006 a0003c0001t0001g0001 a0003c0001t0001g0004 others(1): Show |
4 | HG00642.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.578+386G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154265550 | |||||||
chrX:154265562 | G | A | 2 | a0003c0001t0001g0001 a0003c0001t0001g0004 |
2 | HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.578+398G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154265562 | |||||||
chrX:154265951 | T | TGAAAATG others(334): Show |
1 | a0003c0001t0001g0001 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.579-662_579-661ins others(341): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154265951 | ||||||
chrX:154266166 | G | A | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.579-466G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266166 | |||||||
chrX:154266220 | CTA | C | 4 | a0002c0004t0001g0006 a0003c0001t0001g0001 a0003c0001t0001g0004 others(1): Show |
4 | HG00642.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-410_579-409del others(2): Show |
OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | 154266220 | ||||||
chrX:154266227 | A | T | 4 | a0002c0004t0001g0006 a0003c0001t0001g0001 a0003c0001t0001g0004 others(1): Show |
4 | HG00642.hp1 HG02145.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.579-405A>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266227 | |||||||
chrX:154266342 | G | T | 3 | a0003c0001t0001g0001 a0003c0001t0001g0004 a0004c0005t0002g0003 |
3 | HG02145.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.579-290G>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266342 | |||||||
chrX:154266405 | A | G | 1 | a0004c0005t0002g0003 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-227A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266405 | |||||||
chrX:154266407 | C | A | 1 | a0004c0005t0002g0003 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.579-225C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 3/5 | chrX | 154266407 | |||||||
chrX:154266885 | A | G | 1 | a0002c0004t0001g0006 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.744+88A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154266885 | |||||||
chrX:154266892 | C | A | 1 | a0004c0005t0002g0003 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.744+95C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154266892 | |||||||
chrX:154267071 | G | C | 3 | a0003c0001t0001g0001 a0003c0001t0001g0004 a0004c0005t0002g0003 |
3 | HG02145.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.744+274G>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154267071 | |||||||
chrX:154268089 | A | G | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.745-263A>G | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 4/5 | chrX | 154268089 | |||||||
chrX:154268650 | C | T | 3 | a0002c0003t0001g0002 a0003c0001t0001g0001 a0003c0001t0001g0004 |
3 | HG02486.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.984+59C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154268650 | |||||||
chrX:154268860 | C | T | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.984+269C>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154268860 | |||||||
chrX:154269115 | T | C | 6 | a0001c0002t0001g0005 a0002c0003t0001g0002 a0002c0004t0001g0006 others(3): Show |
6 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+524T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154269115 | |||||||
chrX:154269460 | T | C | 6 | a0001c0002t0001g0005 a0002c0003t0001g0002 a0002c0004t0001g0006 others(3): Show |
6 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.984+869T>C | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154269460 | |||||||
chrX:154270052 | G | T | 6 | a0001c0002t0001g0005 a0002c0003t0001g0002 a0002c0004t0001g0006 others(3): Show |
6 | HG00642.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.985-822G>T | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270052 | |||||||
chrX:154270460 | G | A | 3 | a0002c0003t0001g0002 a0003c0001t0001g0001 a0003c0001t0001g0004 |
3 | HG02486.hp1 HG02572.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.985-414G>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270460 | |||||||
chrX:154270730 | C | A | 1 | a0002c0003t0001g0002 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.985-144C>A | OPN1MW3 | ENSG00000269433.4 | transcript | ENST00000599405.4 | protein_coding | 5/5 | chrX | 154270730 |