Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 6606 |
| ensemblid | ENSG00000172062.17 |
| hgncid | 11117 |
| symbol | SMN1 |
| name | survival of motor neuron 1, telomeric |
| refseq_nuc | NM_000344.4 |
| refseq_prot | NP_000335.1 |
| ensembl_nuc | ENST00000380707.9 |
| ensembl_prot | ENSP00000370083.4 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 70925087 |
| end | 70953015 |
| strand | + |
| ver | v1.2 |
| region | chr5:70925087-70953015 |
| region5000 | chr5:70920087-70958015 |
| regionname0 | SMN1_chr5_70925087_70953015 |
| regionname5000 | SMN1_chr5_70920087_70958015 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 294 | 35 | 29 | 4 | 2 | 0 | 0 | 2 | SMN1_chr5_70920087_70958015 | SMN1 | MAMSS others(289): Show |
chr5 | 70920087 | 70958015 |
| a0002 | 0/0 | 294 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | MAMSS others(289): Show |
chr5 | 70920087 | 70958015 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 882 | 31 | 29 | 1 | 1 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | ATGGC others(877): Show |
chr5 | 70920087 | 70958015 | ||
| a0001c0002 | 0/0 | 882 | 4 | 0 | 3 | 1 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | ATGGC others(877): Show |
chr5 | 70920087 | 70958015 | ||
| a0002c0003 | 0/0 | 882 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | ATGGC others(877): Show |
chr5 | 70920087 | 70958015 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1482 | 17 | 17 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | GCATC others(1477): Show |
chr5 | 70920087 | 70958015 |
| a0001c0001t0002 | 0/0 | 1480 | 13 | 12 | 1 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | GCATC others(1475): Show |
chr5 | 70920087 | 70958015 |
| a0001c0001t0003 | 0/0 | 1482 | 1 | 0 | 0 | 1 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | GCACC others(1477): Show |
chr5 | 70920087 | 70958015 |
| a0001c0002t0003 | 0/0 | 1482 | 4 | 0 | 3 | 1 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | GCACC others(1477): Show |
chr5 | 70920087 | 70958015 |
| a0002c0003t0002 | 0/0 | 1480 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | GCATC others(1475): Show |
chr5 | 70920087 | 70958015 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0001t0003g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0002t0003g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0002t0003g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0001c0002t0003g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| a0002c0003t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01167 | hp1 | a0001 | c0002 | t0003 | g0001 | AMR | PUR | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0032 | AMR | PUR | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG01169 | hp1 | a0001 | c0002 | t0003 | g0006 | AMR | PUR | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG01169 | hp2 | a0001 | c0002 | t0003 | g0001 | AMR | PUR | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0027 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0030 | AFR | GWD | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02922 | hp2 | a0002 | c0003 | t0002 | g0031 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0004 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02965 | hp2 | a0001 | c0001 | t0002 | g0021 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0029 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03195 | hp1 | a0001 | c0001 | t0002 | g0028 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03195 | hp2 | a0001 | c0001 | t0001 | g0024 | AFR | ESN | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0013 | AFR | MSL | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03486 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | MSL | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | MSL | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| NA18984 | hp1 | a0001 | c0001 | t0003 | g0007 | EAS | JPT | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| NA18984 | hp2 | a0001 | c0002 | t0003 | g0005 | EAS | JPT | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | LWK | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| NA19043 | hp2 | a0001 | c0001 | t0002 | g0012 | AFR | LWK | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0020 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0003 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02486 | hp1 | a0001 | c0001 | t0002 | g0014 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | MSL | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0033 | AFR | MSL | SMN1_chr5_70920087_70958015 | SMN1 | chr5 | 70920087 | 70958015 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70946138 | T | C | 1 | a0002 | 1 | HG02922.hp2 | missense_variant | MODERATE | c.796T>C | p.Ser266Pro | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/9 | 813/1482 | 796/885 | 266/294 | chr5 | 70946138 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70942546 | A | G | 2 | a0001c0001 a0002c0003 |
32 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(29): Show |
synonymous_variant | LOW | c.462A>G | p.Gln154Gln | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 4/9 | 479/1482 | 462/885 | 154/294 | chr5 | 70942546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70925090 | C | T | 3 | a0001c0001t0001 a0001c0001t0002 a0002c0003t0002 |
31 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(28): Show |
5_prime_UTR_variant | MODIFIER | c.-14C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/9 | 14 | chr5 | 70925090 | ||||||
| chr5:70952644 | CTA | C | 2 | a0001c0001t0002 a0002c0003t0002 |
14 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*211_*212delAT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 9/9 | 655 | INFO_REALIGN_3_PRIME | chr5 | 70952644 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:70925219 | G | C | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.81+35G>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70925219 | |||||||
| chr5:70925229 | C | T | 28 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(25): Show |
30 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.81+45C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70925229 | |||||||
| chr5:70925251 | C | A | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.81+67C>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70925251 | |||||||
| chr5:70925342 | A | C | 26 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(23): Show |
28 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(25): Show |
intron_variant | MODIFIER | c.81+158A>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70925342 | |||||||
| chr5:70925696 | C | T | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.81+512C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70925696 | |||||||
| chr5:70926274 | CAAAT | C | 11 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0002g0003 others(8): Show |
12 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.81+1117_81+1120del others(4): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70926274 | ||||||
| chr5:70926413 | C | T | 29 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(26): Show |
31 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(28): Show |
intron_variant | MODIFIER | c.81+1229C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70926413 | |||||||
| chr5:70927608 | CA | C | 26 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(23): Show |
27 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(24): Show |
intron_variant | MODIFIER | c.81+2440delA | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70927608 | ||||||
| chr5:70927679 | C | T | 3 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 |
3 | HG02258.hp1 HG03139.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.81+2495C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70927679 | |||||||
| chr5:70927685 | G | A | 14 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.81+2501G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70927685 | |||||||
| chr5:70927961 | TA | T | 3 | a0001c0001t0001g0023 a0001c0001t0002g0028 a0001c0001t0003g0007 |
3 | HG02896.hp1 HG03195.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.81+2796delA | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70927961 | ||||||
| chr5:70928297 | C | T | 29 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(26): Show |
31 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(28): Show |
intron_variant | MODIFIER | c.81+3113C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70928297 | |||||||
| chr5:70928300 | CA | C | 3 | a0001c0002t0003g0001 a0001c0002t0003g0005 a0001c0002t0003g0006 |
4 | HG01167.hp1 HG01169.hp1 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.81+3141delA | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70928300 | ||||||
| chr5:70928300 | CAAAA | C | 7 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 others(4): Show |
8 | HG02109.hp1 HG02109.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.81+3138_81+3141del others(4): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70928300 | ||||||
| chr5:70928956 | T | A | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.81+3772T>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70928956 | |||||||
| chr5:70929157 | T | C | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.81+3973T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70929157 | |||||||
| chr5:70929158 | C | T | 15 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0018 others(12): Show |
16 | HG01167.hp2 HG02109.hp2 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.81+3974C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70929158 | |||||||
| chr5:70929304 | G | C | 1 | a0001c0001t0002g0008 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.81+4120G>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70929304 | |||||||
| chr5:70929404 | TTTTTC | T | 12 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(9): Show |
13 | HG02109.hp1 HG02145.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.81+4225_81+4229del others(5): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70929404 | ||||||
| chr5:70929409 | CT | C | 15 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(12): Show |
16 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.81+4243delT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70929409 | ||||||
| chr5:70929662 | C | T | 14 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0002g0003 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.81+4478C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70929662 | |||||||
| chr5:70929880 | TA | T | 30 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(27): Show |
32 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(29): Show |
intron_variant | MODIFIER | c.81+4700delA | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70929880 | ||||||
| chr5:70930322 | T | G | 1 | a0001c0001t0001g0009 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.81+5138T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70930322 | |||||||
| chr5:70930927 | T | A | 17 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0024 others(14): Show |
18 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.81+5743T>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70930927 | |||||||
| chr5:70931216 | G | GT | 4 | a0001c0001t0001g0004 a0001c0001t0002g0014 a0001c0001t0002g0021 others(1): Show |
4 | HG02486.hp1 HG02965.hp1 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.81+6046dupT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70931216 | ||||||
| chr5:70931216 | G | GTTTTT | 7 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0017 others(4): Show |
8 | HG02486.hp2 HG02818.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.81+6042_81+6046dup others(5): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70931216 | ||||||
| chr5:70931216 | G | GTTTTTT | 4 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0022 others(1): Show |
4 | HG02145.hp1 HG02258.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.81+6041_81+6046dup others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70931216 | ||||||
| chr5:70931224 | T | G | 1 | a0001c0001t0001g0011 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.81+6040T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70931224 | |||||||
| chr5:70931227 | T | G | 1 | a0001c0001t0003g0007 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.81+6043T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70931227 | |||||||
| chr5:70931231 | G | T | 15 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(12): Show |
16 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.81+6047G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70931231 | |||||||
| chr5:70932540 | ATTTTTCT others(13): Show |
A | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.82-6296_82-6277del others(20): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70932540 | ||||||
| chr5:70933340 | GC | G | 12 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(9): Show |
13 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.82-5498delC | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70933340 | |||||||
| chr5:70933630 | G | GT | 2 | a0001c0001t0002g0003 a0001c0001t0002g0021 |
3 | HG02109.hp2 HG02145.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.82-5197dupT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70933630 | ||||||
| chr5:70933879 | G | A | 1 | a0001c0001t0001g0019 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.82-4960G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70933879 | |||||||
| chr5:70934570 | A | G | 1 | a0001c0001t0003g0007 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.82-4269A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70934570 | |||||||
| chr5:70934752 | C | T | 12 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(9): Show |
13 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.82-4087C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70934752 | |||||||
| chr5:70935496 | T | C | 13 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(10): Show |
14 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.82-3343T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70935496 | |||||||
| chr5:70935572 | A | T | 1 | a0001c0001t0001g0019 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.82-3267A>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70935572 | |||||||
| chr5:70935773 | C | CA | 15 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(12): Show |
16 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.82-3056dupA | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70935773 | ||||||
| chr5:70935807 | T | C | 13 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(10): Show |
14 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.82-3032T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70935807 | |||||||
| chr5:70936151 | C | CTTTTTTT others(5): Show |
2 | a0001c0001t0002g0027 a0001c0001t0002g0030 |
2 | HG02258.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.82-2683_82-2672dup others(12): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(6): Show |
8 | a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 others(5): Show |
9 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.82-2684_82-2672dup others(13): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(7): Show |
1 | a0001c0001t0002g0033 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.82-2685_82-2672dup others(14): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(9): Show |
7 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0018 others(4): Show |
8 | HG02109.hp1 HG02145.hp1 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.82-2687_82-2672dup others(16): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(10): Show |
3 | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 |
3 | HG02258.hp1 HG02922.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.82-2672_82-2671ins others(17): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(11): Show |
2 | a0001c0001t0001g0017 a0001c0001t0001g0019 |
2 | HG02818.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.82-2672_82-2671ins others(18): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(15): Show |
1 | a0001c0001t0001g0015 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(22): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(23): Show |
1 | a0001c0001t0001g0009 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(30): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(27): Show |
1 | a0001c0001t0002g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(34): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(30): Show |
1 | a0001c0001t0002g0008 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(37): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936151 | C | CTTTTTTT others(31): Show |
1 | a0001c0001t0001g0011 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.82-2672_82-2671ins others(38): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936151 | ||||||
| chr5:70936283 | G | A | 1 | a0001c0001t0003g0007 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.82-2556G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936283 | |||||||
| chr5:70936599 | G | GT | 8 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(5): Show |
9 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.82-2226dupT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936599 | ||||||
| chr5:70936599 | G | GTT | 15 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(12): Show |
16 | HG02109.hp1 HG02258.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.82-2227_82-2226dup others(2): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936599 | ||||||
| chr5:70936613 | T | G | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.82-2226T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936613 | |||||||
| chr5:70936614 | G | T | 13 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(10): Show |
14 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.82-2225G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936614 | |||||||
| chr5:70936615 | G | T | 2 | a0001c0001t0002g0013 a0001c0001t0002g0014 |
2 | HG02486.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.82-2224G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936615 | |||||||
| chr5:70936617 | G | T | 1 | a0001c0001t0002g0012 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.82-2222G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936617 | |||||||
| chr5:70936618 | G | T | 2 | a0001c0001t0002g0012 a0001c0002t0003g0006 |
2 | HG01169.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.82-2221G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936618 | |||||||
| chr5:70936619 | T | G | 1 | a0001c0001t0001g0017 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.82-2220T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936619 | |||||||
| chr5:70936626 | T | G | 1 | a0001c0001t0002g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.82-2213T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936626 | |||||||
| chr5:70936627 | G | GT | 10 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(7): Show |
11 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.82-2203dupT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70936627 | ||||||
| chr5:70936627 | G | T | 4 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(1): Show |
4 | HG02486.hp1 HG02965.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.82-2212G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936627 | |||||||
| chr5:70936637 | G | T | 15 | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0002g0003 others(12): Show |
16 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.82-2202G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936637 | |||||||
| chr5:70936842 | C | G | 1 | a0001c0001t0003g0007 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.82-1997C>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70936842 | |||||||
| chr5:70937106 | G | A | 14 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(11): Show |
15 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(12): Show |
intron_variant | MODIFIER | c.82-1733G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70937106 | |||||||
| chr5:70937451 | T | G | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.82-1388T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70937451 | |||||||
| chr5:70937829 | ATTG | A | 9 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(6): Show |
10 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.82-995_82-993delGT others(1): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | 70937829 | ||||||
| chr5:70938202 | A | G | 30 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(27): Show |
32 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(29): Show |
intron_variant | MODIFIER | c.82-637A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70938202 | |||||||
| chr5:70938369 | A | T | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.82-470A>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | 70938369 | |||||||
| chr5:70939305 | C | T | 1 | a0001c0001t0002g0014 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.153+395C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70939305 | |||||||
| chr5:70939465 | C | T | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.153+555C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70939465 | |||||||
| chr5:70939617 | G | T | 28 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(25): Show |
30 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.153+707G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70939617 | |||||||
| chr5:70939824 | TCAATAGT others(19): Show |
T | 1 | a0001c0001t0001g0026 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.153+943_153+968del others(26): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | 70939824 | ||||||
| chr5:70940302 | A | G | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.154-1087A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70940302 | |||||||
| chr5:70940327 | T | G | 13 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(10): Show |
14 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.154-1062T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70940327 | |||||||
| chr5:70940714 | G | A | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.154-675G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70940714 | |||||||
| chr5:70941179 | T | C | 1 | a0001c0001t0002g0008 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.154-210T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70941179 | |||||||
| chr5:70941251 | G | C | 1 | a0001c0001t0002g0012 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.154-138G>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 2/8 | chr5 | 70941251 | |||||||
| chr5:70941621 | C | A | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.273+113C>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 3/8 | chr5 | 70941621 | |||||||
| chr5:70941771 | G | A | 1 | a0001c0001t0002g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.273+263G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 3/8 | chr5 | 70941771 | |||||||
| chr5:70941877 | G | A | 28 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(25): Show |
30 | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(27): Show |
intron_variant | MODIFIER | c.273+369G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 3/8 | chr5 | 70941877 | |||||||
| chr5:70942050 | G | C | 1 | a0001c0001t0001g0009 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.274-308G>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 3/8 | chr5 | 70942050 | |||||||
| chr5:70942293 | G | A | 13 | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0012 others(10): Show |
14 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.274-65G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 3/8 | chr5 | 70942293 | |||||||
| chr5:70942962 | T | C | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.627+92T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 5/8 | chr5 | 70942962 | |||||||
| chr5:70943030 | T | A | 15 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0022 others(12): Show |
16 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.627+160T>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 5/8 | chr5 | 70943030 | |||||||
| chr5:70943314 | C | T | 2 | a0001c0001t0001g0009 a0001c0001t0003g0007 |
2 | HG02818.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.627+444C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 5/8 | chr5 | 70943314 | |||||||
| chr5:70945071 | G | C | 1 | a0001c0001t0001g0015 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.723+318G>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 6/8 | chr5 | 70945071 | |||||||
| chr5:70945571 | CTGTG | C | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.724-469_724-466del others(4): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | 70945571 | ||||||
| chr5:70946303 | A | G | 1 | a0001c0001t0002g0021 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.834+127A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70946303 | |||||||
| chr5:70946513 | CT | C | 18 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(15): Show |
19 | HG01169.hp1 HG02109.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.834+359delT | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70946513 | ||||||
| chr5:70946513 | CTT | C | 13 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(10): Show |
14 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.834+358_834+359del others(2): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70946513 | ||||||
| chr5:70946608 | T | C | 17 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0011 others(14): Show |
18 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.834+432T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70946608 | |||||||
| chr5:70946941 | ATT | A | 13 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(10): Show |
14 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.834+780_834+781del others(2): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70946941 | ||||||
| chr5:70946946 | T | A | 1 | a0001c0001t0001g0015 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.834+770T>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70946946 | |||||||
| chr5:70946947 | T | A | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.834+771T>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70946947 | |||||||
| chr5:70946981 | C | A | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.834+805C>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70946981 | |||||||
| chr5:70947151 | A | G | 32 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(29): Show |
34 | HG01167.hp2 HG01169.hp1 HG02109.hp1 others(31): Show |
intron_variant | MODIFIER | c.834+975A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70947151 | |||||||
| chr5:70947682 | A | G | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.834+1506A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70947682 | |||||||
| chr5:70947744 | G | A | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.834+1568G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70947744 | |||||||
| chr5:70948315 | A | G | 13 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0015 others(10): Show |
14 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.834+2139A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70948315 | |||||||
| chr5:70948503 | T | C | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.834+2327T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70948503 | |||||||
| chr5:70949939 | A | G | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.835-2002A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70949939 | |||||||
| chr5:70950049 | T | C | 12 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(9): Show |
13 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.835-1892T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70950049 | |||||||
| chr5:70950068 | CA | C | 11 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(8): Show |
12 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.835-1860delA | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | 70950068 | ||||||
| chr5:70950081 | A | T | 3 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 |
3 | HG02486.hp1 HG03209.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.835-1860A>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70950081 | |||||||
| chr5:70950340 | T | C | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.835-1601T>C | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70950340 | |||||||
| chr5:70950661 | G | T | 2 | a0001c0001t0001g0009 a0001c0001t0003g0007 |
2 | HG02818.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.835-1280G>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70950661 | |||||||
| chr5:70950962 | C | T | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.835-979C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70950962 | |||||||
| chr5:70951020 | G | A | 11 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0016 others(8): Show |
12 | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.835-921G>A | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70951020 | |||||||
| chr5:70951091 | A | T | 10 | a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 others(7): Show |
11 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.835-850A>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70951091 | |||||||
| chr5:70951130 | A | G | 14 | a0001c0001t0001g0011 a0001c0001t0002g0003 a0001c0001t0002g0008 others(11): Show |
15 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.835-811A>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70951130 | |||||||
| chr5:70951437 | C | G | 1 | a0001c0001t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.835-504C>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70951437 | |||||||
| chr5:70951681 | C | T | 2 | a0001c0001t0001g0009 a0001c0001t0003g0007 |
2 | HG02818.hp1 NA18984.hp1 |
intron_variant | MODIFIER | c.835-260C>T | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | chr5 | 70951681 | |||||||
| chr5:70952074 | T | G | 17 | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0023 others(14): Show |
18 | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(15): Show |
intron_variant | MODIFIER | c.*3+80T>G | SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 8/8 | chr5 | 70952074 |