Item | Value |
---|---|
geneid | 729540 |
ensemblid | ENSG00000183054.13 |
hgncid | 32419 |
symbol | RGPD6 |
name | RANBP2 like and GRIP domain containing 6 |
refseq_nuc | NM_001123363.4 |
refseq_prot | NP_001116835.1 |
ensembl_nuc | ENST00000329516.8 |
ensembl_prot | ENSP00000330842.3 |
mane_status | MANE Select |
chr | chr2 |
start | 110513802 |
end | 110577222 |
strand | - |
ver | v1.2 |
region | chr2:110513802-110577222 |
region5000 | chr2:110508802-110582222 |
regionname0 | RGPD6_chr2_110513802_110577222 |
regionname5000 | RGPD6_chr2_110508802_110582222 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 1765 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | MRRSK others(1760): Show |
chr2 | 110508802 | 110582222 |
a0002 | 0/0 | 1765 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | MRRSK others(1760): Show |
chr2 | 110508802 | 110582222 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 5295 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | ATGAG others(5290): Show |
chr2 | 110508802 | 110582222 | ||
a0002c0002 | 0/0 | 5295 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | ATGAG others(5290): Show |
chr2 | 110508802 | 110582222 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 7305 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | GAGGA others(7300): Show |
chr2 | 110508802 | 110582222 |
a0002c0002t0001 | 0/0 | 7305 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | GAGGA others(7300): Show |
chr2 | 110508802 | 110582222 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | chr2 | 110508802 | 110582222 |
a0002c0002t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | RGPD6_chr2_110508802_110582222 | RGPD6 | chr2 | 110508802 | 110582222 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01978 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | RGPD6_chr2_110508802_110582222 | RGPD6 | chr2 | 110508802 | 110582222 |
HG01978 | hp2 | a0002 | c0002 | t0001 | g0001 | AMR | PEL | RGPD6_chr2_110508802_110582222 | RGPD6 | chr2 | 110508802 | 110582222 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:110535351 | T | A | 1 | a0002 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.3035A>T | p.Asn1012Ile | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/23 | 3233/7305 | 3035/5298 | 1012/1765 | chr2 | 110535351 | |||
chr2:110535473 | A | C | 1 | a0002 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.2913T>G | p.Phe971Leu | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/23 | 3111/7305 | 2913/5298 | 971/1765 | chr2 | 110535473 | |||
chr2:110535548 | G | T | 1 | a0002 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.2838C>A | p.Phe946Leu | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/23 | 3036/7305 | 2838/5298 | 946/1765 | chr2 | 110535548 | |||
chr2:110545156 | C | T | 1 | a0002 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.1968G>A | p.Met656Ile | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 14/23 | 2166/7305 | 1968/5298 | 656/1765 | chr2 | 110545156 | |||
chr2:110547171 | C | T | 1 | a0002 | 1 | HG01978.hp2 | missense_variant | MODERATE | c.1391G>A | p.Arg464His | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 10/23 | 1589/7305 | 1391/5298 | 464/1765 | chr2 | 110547171 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:110557876 | T | C | 1 | a0002c0002 | 1 | HG01978.hp2 | synonymous_variant | LOW | c.954A>G | p.Ala318Ala | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/23 | 1152/7305 | 954/5298 | 318/1765 | chr2 | 110557876 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr2:110529177 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4922-2773A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/22 | chr2 | 110529177 | |||||||
chr2:110529195 | C | T | 1 | a0001c0001t0001g0002 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.4922-2791G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/22 | chr2 | 110529195 | |||||||
chr2:110529343 | G | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4922-2939C>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/22 | chr2 | 110529343 | |||||||
chr2:110530124 | G | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4921+3341C>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/22 | chr2 | 110530124 | |||||||
chr2:110531345 | C | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4921+2120G>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 20/22 | chr2 | 110531345 | |||||||
chr2:110535915 | G | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2698-227C>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 19/22 | chr2 | 110535915 | |||||||
chr2:110536603 | G | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2603-93C>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 18/22 | chr2 | 110536603 | |||||||
chr2:110538377 | G | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2602+1678C>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 18/22 | chr2 | 110538377 | |||||||
chr2:110540942 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-752G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110540942 | |||||||
chr2:110541133 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-943G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541133 | |||||||
chr2:110541219 | A | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-1029T>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541219 | |||||||
chr2:110541316 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-1126A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541316 | |||||||
chr2:110541548 | G | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-1358C>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541548 | |||||||
chr2:110541595 | T | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-1405A>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541595 | |||||||
chr2:110541608 | T | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2467-1418A>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541608 | |||||||
chr2:110541937 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2466+1422A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110541937 | |||||||
chr2:110542963 | T | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2466+396A>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 17/22 | chr2 | 110542963 | |||||||
chr2:110547442 | G | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1277-157C>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 9/22 | chr2 | 110547442 | |||||||
chr2:110547719 | T | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1277-434A>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 9/22 | chr2 | 110547719 | |||||||
chr2:110547723 | A | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1277-438T>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 9/22 | chr2 | 110547723 | |||||||
chr2:110547932 | C | CAAGAAAA others(23): Show |
1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1277-648_1277-647i others(32): Show |
RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 9/22 | chr2 | 110547932 | |||||||
chr2:110549708 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1067-106T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 8/22 | chr2 | 110549708 | |||||||
chr2:110550413 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1067-811G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 8/22 | chr2 | 110550413 | |||||||
chr2:110550446 | C | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1067-844G>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 8/22 | chr2 | 110550446 | |||||||
chr2:110552241 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.979-430G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110552241 | |||||||
chr2:110554277 | G | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.979-2466C>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110554277 | |||||||
chr2:110554820 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.979-3009A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110554820 | |||||||
chr2:110555040 | C | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+2812G>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110555040 | |||||||
chr2:110555098 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+2754G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110555098 | |||||||
chr2:110555255 | G | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+2597C>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110555255 | |||||||
chr2:110555976 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1876G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110555976 | |||||||
chr2:110556055 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1797T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556055 | |||||||
chr2:110556113 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1739T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556113 | |||||||
chr2:110556332 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1520T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556332 | |||||||
chr2:110556340 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1512A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556340 | |||||||
chr2:110556382 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1470T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556382 | |||||||
chr2:110556575 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1277G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556575 | |||||||
chr2:110556649 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.978+1203T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 7/22 | chr2 | 110556649 | |||||||
chr2:110558304 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.783-257T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110558304 | |||||||
chr2:110558780 | C | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.783-733G>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110558780 | |||||||
chr2:110559877 | G | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.783-1830C>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110559877 | |||||||
chr2:110560670 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.782+1942G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110560670 | |||||||
chr2:110560898 | C | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.782+1714G>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110560898 | |||||||
chr2:110561129 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.782+1483T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110561129 | |||||||
chr2:110561692 | G | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.782+920C>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 6/22 | chr2 | 110561692 | |||||||
chr2:110563557 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.406-224G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110563557 | |||||||
chr2:110563702 | C | T | 1 | a0001c0001t0001g0002 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.406-369G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110563702 | |||||||
chr2:110563708 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.406-375A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110563708 | |||||||
chr2:110563959 | T | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.406-626A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110563959 | |||||||
chr2:110565569 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.405+1807T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110565569 | |||||||
chr2:110566145 | T | C | 1 | a0001c0001t0001g0002 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.405+1231A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110566145 | |||||||
chr2:110566393 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.405+983T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 4/22 | chr2 | 110566393 | |||||||
chr2:110569751 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.73-27G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110569751 | |||||||
chr2:110570447 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.73-723T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110570447 | |||||||
chr2:110572565 | C | CAAAACAT others(44): Show |
1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.73-2892_73-2842dup others(51): Show |
RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110572565 | |||||||
chr2:110572819 | C | A | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.73-3095G>T | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110572819 | |||||||
chr2:110573131 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.73-3407T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110573131 | |||||||
chr2:110573148 | C | T | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.73-3424G>A | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110573148 | |||||||
chr2:110573561 | A | G | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.72+3392T>C | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110573561 | |||||||
chr2:110573961 | G | C | 1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.72+2992C>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110573961 | |||||||
chr2:110576712 | AAGCGCCG others(14): Show |
A | 1 | a0001c0001t0001g0002 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.72+220_72+240delGA others(19): Show |
RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110576712 | |||||||
chr2:110576892 | C | CCGCCCCC others(323): Show |
1 | a0002c0002t0001g0001 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.72+60_72+61insCGGC others(326): Show |
RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110576892 | |||||||
chr2:110576899 | C | CCGGCCGC others(430): Show |
1 | a0001c0001t0001g0002 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.72+53_72+54insAGGG others(433): Show |
RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110576899 | |||||||
chr2:110576901 | T | C | 1 | a0001c0001t0001g0002 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.72+52A>G | RGPD6 | ENSG00000183054.13 | transcript | ENST00000329516.8 | protein_coding | 1/22 | chr2 | 110576901 |