COL6A3 (collagen type VI alpha 3 chain)

Gene

• Entrez ID: 1293
• Gene name: Collagen type VI alpha 3 chain
• Gene symbol: COL6A3
• Synonyms: BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C
• Chromosome: 2
• Chromosome location: 2q37.3
• Summary: This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in si

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34390834	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs34741387	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, intron variant
rs78365682	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant
rs111481402	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, synonymous variant
rs112181324	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs112913396	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs113066678	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Synonymous variant, coding sequence variant
rs113153193	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs113332380	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs113605136	C>A,G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs113721676	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs113781746	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs114144694	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs114248590	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs114338020	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs114498197	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs114549120	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs114684687	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs114791158	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs115130936	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs115155458	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs115401779	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs115551245	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant
rs115591088	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs115881121	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant
rs115893145	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs115973206	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs116066149	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant, missense variant
rs116239777	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs116541926	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs117345850	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs121434553	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121434554	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs121434555	A>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs138285547	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs138466455	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, coding sequence variant, missense variant
rs139260335	T>C	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs140441798	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs141280228	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs141560881	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, intron variant
rs143237699	G>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs144051775	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144291325	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs144746928	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs145581705	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs145586177	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs145884404	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs146092501	C>T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146355600	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs147215386	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant
rs147537071	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs148183839	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs148488423	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs148561729	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs148821986	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs148970984	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs150165484	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs151079701	G>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs151289203	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, intron variant, coding sequence variant
rs182976977	G>A,C	Benign, pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs183247300	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs184617787	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs189411873	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs189772397	G>A,C,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, synonymous variant
rs199632952	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs199646208	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199723531	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs200111289	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200285455	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs200621867	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200722892	G>A,C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs200860322	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201131900	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs201479636	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs201532239	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs201888442	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202086524	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs367991818	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs369537287	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs370146203	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373563217	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374952003	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs375442243	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs375729592	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs375909800	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs375924639	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, intron variant, coding sequence variant
rs376087730	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, intron variant, coding sequence variant
rs376123972	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376201065	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs376525317	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs377572272	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs377629176	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs397515332	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs398124119	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant, coding sequence variant, stop gained
rs398124126	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs398124128	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs528204718	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs535498742	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs535661345	C>T	Uncertain-significance, likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs541928674	C>T	Likely-benign, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs542204130	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs542411896	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs552651651	C>T	Likely-benign, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs556079869	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs558665283	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, intron variant, coding sequence variant
rs563813743	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs570963533	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs571287679	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs727503885	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs748814297	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs749037028	C>T	Pathogenic	Genic downstream transcript variant, intron variant
rs749855513	C>A,T	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs752530417	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs755902927	G>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, intron variant
rs758124326	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs758582935	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs760446904	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs761796175	G>A	Pathogenic	Coding sequence variant, stop gained
rs762950440	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs763187844	G>A	Pathogenic	Coding sequence variant, stop gained
rs763348222	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs764193290	T>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs765101399	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs765837100	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs766488017	T>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs766589204	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs767517186	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs768233315	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs771941724	G>A,T	Likely-pathogenic	Genic downstream transcript variant, synonymous variant, coding sequence variant, stop gained
rs774115247	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs774198344	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs775821966	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs776493521	G>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs777242754	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs777304794	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs777752945	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, genic downstream transcript variant
rs780921503	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs781043870	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs786205870	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs794727188	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs794727206	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs794729205	G>-	Likely-pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs797044988	T>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs797045479	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs878854379	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs886041329	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886041434	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs886042402	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886042447	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042623	AA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886042883	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs886042997	G>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886043113	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886043519	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs886043576	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886043737	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs886043919	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs886043992	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs886044252	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs894679602	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs898779231	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, missense variant, synonymous variant
rs912671116	G>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant, genic downstream transcript variant
rs995147980	C>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1064795558	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs1085307697	C>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1085307777	G>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1230578718	C>A	Likely-pathogenic	Splice donor variant, intron variant
rs1268762655	C>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1306053610	A>C,G	Likely-pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs1553544667	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1553553248	ACCATCCAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1553553267	TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT>-	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs1553553313	TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATG	Pathogenic	Genic downstream transcript variant, splice acceptor variant, splice donor variant, intron variant, coding sequence variant
rs1553553327	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1553553625	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553553646	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1553554298	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1553554384	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1553557696	G>A	Likely-pathogenic	Stop gained, intron variant, coding sequence variant, genic downstream transcript variant
rs1553561409	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559225974	CCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1559225993	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1559228507	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1559234260	C>A	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1559253935	TGCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1559257971	A>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1559261557	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1574701592	C>A	Likely-pathogenic	Splice donor variant, coding sequence variant, missense variant
rs1574719512	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1574724863	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1574942920	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1574975196	C>G,T	Pathogenic, likely-pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1574976615	GGACCACGCTC>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT756089	hsa-miR-202-3p	Western blotting, qRT-PCR	37226011
MIRT903151	hsa-miR-1207-5p	CLIP-seq
MIRT903152	hsa-miR-1275	CLIP-seq
MIRT903153	hsa-miR-4488	CLIP-seq
MIRT903154	hsa-miR-4665-5p	CLIP-seq
MIRT903155	hsa-miR-4697-5p	CLIP-seq
MIRT903156	hsa-miR-4763-3p	CLIP-seq
MIRT903157	hsa-miR-486-3p	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547338	hsa-miR-1254	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT1547341	hsa-miR-1290	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547344	hsa-miR-146a	CLIP-seq
MIRT1547345	hsa-miR-146b-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT1547348	hsa-miR-2115	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT1547353	hsa-miR-3116	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT1547356	hsa-miR-345	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT1547358	hsa-miR-376c	CLIP-seq
MIRT1547359	hsa-miR-3925-5p	CLIP-seq
MIRT1547360	hsa-miR-3977	CLIP-seq
MIRT1547361	hsa-miR-4254	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT1547365	hsa-miR-4475	CLIP-seq
MIRT1547366	hsa-miR-4539	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547370	hsa-miR-4672	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547380	hsa-miR-516a-3p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT1547388	hsa-miR-548l	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT1547392	hsa-miR-661	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT1967788	hsa-miR-877	CLIP-seq
MIRT2203643	hsa-miR-3188	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT903151	hsa-miR-1207-5p	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT2427882	hsa-miR-124	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT2427883	hsa-miR-1256	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT903152	hsa-miR-1275	CLIP-seq
MIRT1547341	hsa-miR-1290	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT2427886	hsa-miR-133a	CLIP-seq
MIRT2427887	hsa-miR-133b	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT2427891	hsa-miR-181a	CLIP-seq
MIRT2427892	hsa-miR-181b	CLIP-seq
MIRT2427893	hsa-miR-181c	CLIP-seq
MIRT2427894	hsa-miR-181d	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT1547348	hsa-miR-2115	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT2427898	hsa-miR-3129-3p	CLIP-seq
MIRT2427899	hsa-miR-3152-5p	CLIP-seq
MIRT2427900	hsa-miR-3153	CLIP-seq
MIRT2427901	hsa-miR-3192	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT2427903	hsa-miR-33a	CLIP-seq
MIRT2427904	hsa-miR-33b	CLIP-seq
MIRT1547356	hsa-miR-345	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427906	hsa-miR-3714	CLIP-seq
MIRT1547358	hsa-miR-376c	CLIP-seq
MIRT2427907	hsa-miR-3910	CLIP-seq
MIRT2427908	hsa-miR-3941	CLIP-seq
MIRT2427909	hsa-miR-3973	CLIP-seq
MIRT1547360	hsa-miR-3977	CLIP-seq
MIRT2427910	hsa-miR-4262	CLIP-seq
MIRT2427911	hsa-miR-4281	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT2427913	hsa-miR-4314	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT2427915	hsa-miR-4438	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427916	hsa-miR-4453	CLIP-seq
MIRT1547365	hsa-miR-4475	CLIP-seq
MIRT903153	hsa-miR-4488	CLIP-seq
MIRT2427917	hsa-miR-4509	CLIP-seq
MIRT2427918	hsa-miR-4538	CLIP-seq
MIRT1547366	hsa-miR-4539	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT2427920	hsa-miR-4646-5p	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT2427921	hsa-miR-466	CLIP-seq
MIRT903154	hsa-miR-4665-5p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT2427922	hsa-miR-4668-5p	CLIP-seq
MIRT1547370	hsa-miR-4672	CLIP-seq
MIRT903155	hsa-miR-4697-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT2427924	hsa-miR-4720-3p	CLIP-seq
MIRT2427925	hsa-miR-4731-3p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT2427926	hsa-miR-4744	CLIP-seq
MIRT903156	hsa-miR-4763-3p	CLIP-seq
MIRT2427927	hsa-miR-4763-5p	CLIP-seq
MIRT2427928	hsa-miR-4772-3p	CLIP-seq
MIRT2427929	hsa-miR-4774-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT2427930	hsa-miR-4801	CLIP-seq
MIRT2427931	hsa-miR-4804-3p	CLIP-seq
MIRT903157	hsa-miR-486-3p	CLIP-seq
MIRT2427932	hsa-miR-506	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT2427933	hsa-miR-515-5p	CLIP-seq
MIRT1547380	hsa-miR-516a-3p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT2427934	hsa-miR-520g	CLIP-seq
MIRT2427935	hsa-miR-520h	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT2427936	hsa-miR-543	CLIP-seq
MIRT1547388	hsa-miR-548l	CLIP-seq
MIRT2427937	hsa-miR-554	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT2506707	hsa-miR-1	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT2506708	hsa-miR-206	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT2506709	hsa-miR-23a	CLIP-seq
MIRT2506710	hsa-miR-23b	CLIP-seq
MIRT2506711	hsa-miR-23c	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT2427899	hsa-miR-3152-5p	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT2427903	hsa-miR-33a	CLIP-seq
MIRT2427904	hsa-miR-33b	CLIP-seq
MIRT2506712	hsa-miR-3591-3p	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT2427927	hsa-miR-4763-5p	CLIP-seq
MIRT2427928	hsa-miR-4772-3p	CLIP-seq
MIRT2427929	hsa-miR-4774-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT2506713	hsa-miR-613	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq
MIRT2506707	hsa-miR-1	CLIP-seq
MIRT1547333	hsa-miR-103a	CLIP-seq
MIRT1547334	hsa-miR-107	CLIP-seq
MIRT1547335	hsa-miR-1203	CLIP-seq
MIRT2678426	hsa-miR-1226	CLIP-seq
MIRT1547336	hsa-miR-1237	CLIP-seq
MIRT1547337	hsa-miR-1248	CLIP-seq
MIRT1547339	hsa-miR-1265	CLIP-seq
MIRT1547340	hsa-miR-1272	CLIP-seq
MIRT2427884	hsa-miR-130a	CLIP-seq
MIRT2427885	hsa-miR-130b	CLIP-seq
MIRT1547342	hsa-miR-1322	CLIP-seq
MIRT1547343	hsa-miR-139-5p	CLIP-seq
MIRT1547346	hsa-miR-1470	CLIP-seq
MIRT2427888	hsa-miR-148a	CLIP-seq
MIRT2427889	hsa-miR-148b	CLIP-seq
MIRT2427890	hsa-miR-152	CLIP-seq
MIRT1547347	hsa-miR-202	CLIP-seq
MIRT2427895	hsa-miR-203	CLIP-seq
MIRT2506708	hsa-miR-206	CLIP-seq
MIRT1547349	hsa-miR-214	CLIP-seq
MIRT2506709	hsa-miR-23a	CLIP-seq
MIRT2506710	hsa-miR-23b	CLIP-seq
MIRT2506711	hsa-miR-23c	CLIP-seq
MIRT1547350	hsa-miR-29a	CLIP-seq
MIRT1547351	hsa-miR-29b	CLIP-seq
MIRT1547352	hsa-miR-29c	CLIP-seq
MIRT2427896	hsa-miR-301a	CLIP-seq
MIRT2427897	hsa-miR-301b	CLIP-seq
MIRT2427899	hsa-miR-3152-5p	CLIP-seq
MIRT1547354	hsa-miR-3187-3p	CLIP-seq
MIRT2427902	hsa-miR-330-3p	CLIP-seq
MIRT1547355	hsa-miR-335	CLIP-seq
MIRT2427903	hsa-miR-33a	CLIP-seq
MIRT2427904	hsa-miR-33b	CLIP-seq
MIRT2506712	hsa-miR-3591-3p	CLIP-seq
MIRT1547357	hsa-miR-3619-5p	CLIP-seq
MIRT2427905	hsa-miR-3666	CLIP-seq
MIRT2427912	hsa-miR-4295	CLIP-seq
MIRT1547362	hsa-miR-4305	CLIP-seq
MIRT2427914	hsa-miR-4422	CLIP-seq
MIRT1547363	hsa-miR-4435	CLIP-seq
MIRT1547364	hsa-miR-4444	CLIP-seq
MIRT2427919	hsa-miR-454	CLIP-seq
MIRT1547367	hsa-miR-4659a-3p	CLIP-seq
MIRT1547368	hsa-miR-4659b-3p	CLIP-seq
MIRT1547369	hsa-miR-4667-3p	CLIP-seq
MIRT1547371	hsa-miR-4701-5p	CLIP-seq
MIRT2427923	hsa-miR-4708-3p	CLIP-seq
MIRT1547372	hsa-miR-4715-5p	CLIP-seq
MIRT1547373	hsa-miR-4738-3p	CLIP-seq
MIRT1547374	hsa-miR-4740-3p	CLIP-seq
MIRT2427927	hsa-miR-4763-5p	CLIP-seq
MIRT2427928	hsa-miR-4772-3p	CLIP-seq
MIRT2427929	hsa-miR-4774-3p	CLIP-seq
MIRT1547375	hsa-miR-4777-5p	CLIP-seq
MIRT1547376	hsa-miR-4778-3p	CLIP-seq
MIRT1547377	hsa-miR-4781-3p	CLIP-seq
MIRT1547378	hsa-miR-4797-5p	CLIP-seq
MIRT1547379	hsa-miR-508-5p	CLIP-seq
MIRT1547381	hsa-miR-518d-5p	CLIP-seq
MIRT1547382	hsa-miR-519b-5p	CLIP-seq
MIRT1547383	hsa-miR-519c-5p	CLIP-seq
MIRT1547384	hsa-miR-520a-5p	CLIP-seq
MIRT1547385	hsa-miR-520c-5p	CLIP-seq
MIRT1547386	hsa-miR-525-5p	CLIP-seq
MIRT1547387	hsa-miR-526a	CLIP-seq
MIRT1547389	hsa-miR-548s	CLIP-seq
MIRT1547390	hsa-miR-588	CLIP-seq
MIRT2506713	hsa-miR-613	CLIP-seq
MIRT2678427	hsa-miR-634	CLIP-seq
MIRT1547391	hsa-miR-642a	CLIP-seq
MIRT2427938	hsa-miR-642b	CLIP-seq
MIRT1547393	hsa-miR-761	CLIP-seq
MIRT1547394	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005589	Component	Collagen type VI trimer	TAS	8782832
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007517	Process	Muscle organ development	TAS	8782832
GO:0010951	Process	Negative regulation of endopeptidase activity	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IDA	18400749
GO:0042383	Component	Sarcolemma	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1903561	Component	Extracellular vesicle	HDA	24769233

Other IDs

• MIM: 120250
• HGNC: 2213
• e!Ensembl: ENSG00000163359

Protein

• UniProt ID: P12111
• Protein name: Collagen alpha-3(VI) chain
• Protein function: Collagen VI acts as a cell-binding protein.
• PDB: 1KNT, 1KTH, 1KUN, 2KNT, 6SNK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	39 → 212	von Willebrand factor type A domain	Domain
  PF00092	VWA	242 → 414	von Willebrand factor type A domain	Domain
  PF00092	VWA	445 → 616	von Willebrand factor type A domain	Domain
  PF00092	VWA	639 → 811	von Willebrand factor type A domain	Domain
  PF00092	VWA	837 → 1008	von Willebrand factor type A domain	Domain
  PF00092	VWA	1029 → 1200	von Willebrand factor type A domain	Domain
  PF00092	VWA	1233 → 1403	von Willebrand factor type A domain	Domain
  PF00092	VWA	1436 → 1608	von Willebrand factor type A domain	Domain
  PF00092	VWA	1639 → 1811	von Willebrand factor type A domain	Domain
  PF01391	Collagen	2036 → 2096	Collagen triple helix repeat (20 copies)	Repeat
  PF00092	VWA	2402 → 2579	von Willebrand factor type A domain	Domain
  PF00092	VWA	2619 → 2808	von Willebrand factor type A domain	Domain
  PF00014	Kunitz_BPTI	3111 → 3163	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

• Sequence:

  MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVRE
  FLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGK
  GLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDA
  DEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDS
  ADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYS
  TKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSD
  EIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV
  GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQD
  LIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSS
  AGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSS
  LVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRD
  FVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTG
  SALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQ
  ANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF
  LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEIL
  NLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPA
  SNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGA
  PAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEF
  YLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLT
  ADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQV
  ISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD
  YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVS
  RNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVK
  ISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFL
  IDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVL
  DAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFA
  QVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATP
  APPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL
  VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLD
  QRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVG
  NVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFES
  KVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQ
  HPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILV
  GLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQR
  GDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP
  GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNP
  GQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGF
  EGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGP
  KGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIR
  GRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFP
  TELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRF
  ADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT
  RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLEN
  VLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKK
  YIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVD
  FLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVIL
  QAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFV
  SSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTT
  KPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT
  AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEI
  TENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVC
  YLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGT
  CRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT

• Sequence length: 3177

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Bethlem myopathy	BETHLEM MYOPATHY 1, Bethlem myopathy	rs121434553, rs121434555, rs139260335, rs796052093, rs796052094, rs1768488927	9536084, 18366090, 15689448, 15563506, 17886299, 19564581, 19344236, 7695699, 20976770, 24038877, 26004199, 27854218, 18825676, 28688748, 21280092, 8218237, 26247046, 10399756, 27447704
Congenital muscular dystrophy	Congenital muscular dystrophy (disorder), Congenital muscular dystrophy, Ullrich type	rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117, rs387907069, rs786205118, rs267607600, rs61672878, rs57629361, rs61444459, rs60872029, rs587780362, rs141554661, rs864309525, rs371751084, rs914395925, rs1060505038, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757, rs776548207, rs1554269966, rs373091820, rs1553261891, rs1474512248, rs1333100080, rs1246940477, rs1554320168, rs372328960, rs1217190017, rs750756707, rs1555894289, rs1296761337, rs1562530132, rs1569054508, rs1565622052, rs1415944134, rs1565620275, rs752436924, rs1569054086, rs1583149141, rs17854600, rs757369551, rs755438542, rs1872274494, rs1874440714	27854218
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Dystonia	DYSTONIA 27, Primary dystonia, DYT27 type	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854	26004199, 11992252
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nephroblastoma	Nephroblastoma	rs1553551874, rs1555913934, rs769116796	28825729
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ullrich congenital muscular dystrophy	Ullrich congenital muscular dystrophy 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT	rs1601231322, rs748035948, rs1568931397, rs267606747, rs121912938, rs121912939, rs387906608, rs398122821, rs875989819, rs796052093, rs749974929, rs984314526, rs1582208315, rs1582196903	18366090, 15689448, 15563506, 19564581, 11992252
Wilms tumor	Bilateral Wilms Tumor	rs121918261, rs2116574924, rs587776573, rs587776574, rs121907900, rs121907901, rs587776576, rs121907909, rs121907906, rs587776577, rs121907911, rs80359604, rs80358785, rs104894855, rs122453119, rs122453121, rs869025310, rs869025311, rs869025312, rs121907903, rs1131690795, rs1554945033, rs1423753702, rs1556297749, rs1569392947, rs1569408743, rs1603240717, rs1602581162, rs771527206, rs2071072322	28825729

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy, Proximal amyotrophy
Cardiovascular abnormalities	Cardiovascular Abnormalities
Congenital clubfoot	Congenital clubfoot
Congenital torticollis	Congenital torticollis
Elbow flexion contracture	Flexion contracture - elbow
Esotropia	Esotropia
Facial paralysis	Facial paralysis
High palate	Byzanthine arch palate
Laryngeal dystonia	Laryngeal dystonia
Micrognathism	Micrognathism
Miscarriage	Miscarriage		18539642
Motor delay	Clumsiness - motor delay
Phrynoderma	Phrynoderma
Respiratory failure	Respiratory Failure
Writer`s cramp	Writer`s Cramp