FBN1 (fibrillin 1)

Gene

• Entrez ID: 2200
• Gene name: Fibrillin 1
• Gene symbol: FBN1
• Synonyms (NCBI Gene): ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an ex

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs25388	G>A,T	Likely-benign, benign, likely-pathogenic, benign-likely-benign	Stop gained, coding sequence variant, synonymous variant
rs25403	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs25404	C>A,T	Pathogenic	Splice donor variant
rs140583	G>A	Pathogenic	Stop gained, coding sequence variant
rs140592	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs140593	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs140597	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs140599	C>T	Pathogenic	Missense variant, coding sequence variant
rs140603	G>A,C,T	Pathogenic, benign	Missense variant, stop gained, coding sequence variant, synonymous variant
rs140627	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs140630	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs140638	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs140648	T>C	Likely-pathogenic	Coding sequence variant, synonymous variant
rs363802	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs363804	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs363805	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs363806	G>T	Pathogenic	Stop gained, coding sequence variant
rs363807	G>A	Pathogenic	Stop gained, coding sequence variant
rs363808	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs363810	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs363811	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs363815	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs363821	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs363852	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs363853	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs2228241	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Missense variant, coding sequence variant
rs12324002	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign, benign-likely-benign	Missense variant, coding sequence variant
rs35656954	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs61730051	G>A,C	Pathogenic, likely-benign, benign	Missense variant, synonymous variant, coding sequence variant
rs61730054	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs61746008	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs71467648	A>C,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs78970689	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs111231312	G>A	Pathogenic	Coding sequence variant, stop gained
rs111239111	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs111401431	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs111588631	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs111671429	G>A,C	Likely-pathogenic, likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs111687884	G>A,C	Likely-benign, pathogenic	Missense variant, coding sequence variant, stop gained
rs111764111	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs111801777	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs111856492	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs111929350	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs111978932	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs111984349	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs112084407	C>T	Benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs112104270	C>A,T	Pathogenic	Splice donor variant
rs112118237	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs112196241	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs112202622	C>A,G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs112289537	G>-,GG	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs112375043	G>A,C,T	Likely-benign, likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant, stop gained
rs112464743	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs112547596	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs112550005	G>A	Pathogenic	Coding sequence variant, stop gained
rs112642323	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs112645512	G>A	Pathogenic	Coding sequence variant, stop gained
rs112660651	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs112728248	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs112809590	C>A	Pathogenic	Splice donor variant
rs112836174	A>C,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs112907302	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs112911555	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs112930491	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs112989722	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant
rs113001196	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs113022801	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs113080385	T>A,C	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs113082854	C>G	Likely-pathogenic	Splice acceptor variant
rs113086760	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs113249837	G>A	Pathogenic	Coding sequence variant, stop gained
rs113393517	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs113422242	G>A	Pathogenic	Coding sequence variant, stop gained
rs113453570	A>G	Pathogenic	Splice donor variant
rs113543334	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs113544411	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, stop gained
rs113602180	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs113603747	ATTGACAT>-	Pathogenic	Coding sequence variant, frameshift variant
rs113604459	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs113693945	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs113695103	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs113812345	G>A	Pathogenic	Coding sequence variant, stop gained
rs113871094	G>A	Pathogenic	Coding sequence variant, stop gained
rs113905529	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs137854456	C>A,G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137854457	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137854458	C>G	Pathogenic	Missense variant, coding sequence variant
rs137854459	A>G	Pathogenic	Missense variant, coding sequence variant
rs137854460	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs137854461	T>C	Pathogenic	Missense variant, coding sequence variant
rs137854462	T>A	Pathogenic	Missense variant, coding sequence variant
rs137854463	T>G	Pathogenic	Missense variant, coding sequence variant
rs137854464	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137854465	A>G	Pathogenic	Missense variant, coding sequence variant
rs137854466	G>A,C	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs137854467	G>A	Pathogenic	Missense variant, coding sequence variant
rs137854468	C>T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137854469	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs137854470	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854471	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs137854472	T>C	Pathogenic	Missense variant, coding sequence variant
rs137854473	T>A	Pathogenic	Missense variant, coding sequence variant
rs137854474	A>G	Pathogenic	Missense variant, coding sequence variant
rs137854475	C>T	Not-provided, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs137854476	G>A	Pathogenic	Coding sequence variant, stop gained
rs137854477	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854478	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs137854479	T>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs137854480	G>A	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs137854481	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854482	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854483	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854484	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854485	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs138621371	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs139968089	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140537304	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs140954477	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141039922	T>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141133182	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained
rs141925790	G>A,C	Likely-benign, benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs142888621	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs143007898	G>A,C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs145040593	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs145942328	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs146348130	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs146726731	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147195031	G>A	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148831709	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs148888513	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149062442	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs149697299	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs181681840	G>A,T	Benign, pathogenic	Intron variant
rs183306990	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs187553035	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic, likely-benign	Missense variant, stop gained, coding sequence variant
rs193921256	G>A,C,T	Likely-benign, pathogenic	Coding sequence variant, missense variant, synonymous variant, stop gained
rs193922179	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922181	->GCATTACAC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs193922182	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922183	A>C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs193922185	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs193922186	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs193922187	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922188	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs193922189	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922191	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922193	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922194	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922196	C>-	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Intron variant
rs193922197	GG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922198	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs193922199	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs193922203	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922204	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Intron variant
rs193922205	A>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs193922206	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922207	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs193922209	C>A,G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Intron variant
rs193922210	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs193922212	AGGTGAAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922214	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922215	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922216	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922219	C>A,T	Uncertain-significance, pathogenic	Intron variant
rs193922220	->TATCCAG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922223	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs193922224	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs193922225	->ATCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922226	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922227	->TTGCATTC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922228	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs193922230	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922235	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922236	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs193922239	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs193922240	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs193922241	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922243	C>A,T	Uncertain-significance, pathogenic	Intron variant
rs193922246	TTTTAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs199474693	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs199522781	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200295020	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs200309328	G>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs200841830	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs201058219	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs201226058	A>G	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs201361628	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201778577	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs201854371	T>C,G	Likely-pathogenic	Intron variant
rs267606796	C>T	Pathogenic	Coding sequence variant, stop gained
rs267606797	A>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs267606798	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs267606799	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs267606800	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs267606801	A>C	Pathogenic	Coding sequence variant, missense variant
rs368978109	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs368979510	G>A,C	Pathogenic, benign-likely-benign	Coding sequence variant, synonymous variant, stop gained
rs369058466	G>A,C	Likely-benign, likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs371097218	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs371763964	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs372404949	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs373510719	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs375596551	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs375624881	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377036485	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs387906547	T>A	Pathogenic	Splice acceptor variant
rs387906548	C>T	Pathogenic	Splice donor variant
rs387906622	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906623	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs387906624	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906625	T>C	Pathogenic	Coding sequence variant, missense variant
rs387906626	T>C	Pathogenic	Coding sequence variant, missense variant
rs397514558	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515753	G>A	Pathogenic	Coding sequence variant, stop gained
rs397515754	T>A	Pathogenic	Coding sequence variant, stop gained
rs397515755	G>T	Pathogenic	Coding sequence variant, stop gained
rs397515756	T>C,G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs397515757	C>T	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs397515758	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515759	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515762	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs397515764	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs397515765	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515766	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs397515767	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515768	T>A	Pathogenic	Coding sequence variant, stop gained
rs397515769	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515770	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515771	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397515773	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397515774	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515775	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515776	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397515778	CC>G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515779	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs397515781	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515782	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515784	G>C,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs397515786	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515788	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515789	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Splice donor variant
rs397515790	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397515791	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515792	C>A	Pathogenic	Splice donor variant
rs397515793	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515794	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515796	T>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515797	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515798	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515799	A>C,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515801	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397515802	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515803	CACTGGCCA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs397515804	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515805	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515807	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs397515808	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515810	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515811	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515812	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs397515814	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397515816	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515817	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515818	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515819	C>G,T	Pathogenic	Splice acceptor variant
rs397515820	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397515821	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397515823	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515825	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515826	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs397515827	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515828	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515829	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397515830	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515831	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397515833	C>T	Pathogenic-likely-pathogenic	Splice donor variant
rs397515834	AA>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515836	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs397515837	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515840	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs397515844	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs397515845	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515846	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs397515847	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515848	G>A	Pathogenic	Coding sequence variant, stop gained
rs397515851	C>A	Likely-pathogenic	Splice donor variant
rs397515852	TA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515853	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515854	C>T	Pathogenic	Coding sequence variant, missense variant
rs397515857	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515859	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs397515861	C>T	Pathogenic	Coding sequence variant, stop gained
rs397515863	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs397515864	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs397515865	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs397515866	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs397515867	->A	Pathogenic	Coding sequence variant, frameshift variant
rs398122831	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122832	TTGGGGTAGCCATTGATCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs398122833	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs398122934	CTGGCCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs534811966	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs536588176	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs537570299	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs541501178	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs548296552	G>A	Pathogenic	Coding sequence variant, missense variant
rs564713154	C>A,T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs587776863	->GTT	Pathogenic	Inframe insertion, coding sequence variant
rs587782943	G>A,C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs587782944	C>T	Pathogenic	Coding sequence variant, missense variant
rs587782946	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs587782947	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs587782948	C>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs672601352	CACAGCTTGTTG>-	Pathogenic-likely-pathogenic	Inframe deletion, coding sequence variant
rs727503054	A>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs727503056	GTACCCCAGGCTTTACCCAGAGAACAGCAGCAGGAAGCTTTGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727503057	G>A	Pathogenic	Coding sequence variant, missense variant
rs727504315	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727504347	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs727504410	G>A	Pathogenic	Stop gained, coding sequence variant
rs727504411	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs727504454	TCC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs727504642	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs727504651	AA>TCCT	Pathogenic	Frameshift variant, coding sequence variant
rs727505006	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs727505110	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs727505269	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs730880098	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730880099	G>A	Pathogenic	Coding sequence variant, missense variant
rs730880100	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs730880101	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs730880103	A>G,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs730880104	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730880105	A>C,G	Likely-pathogenic	Splice donor variant
rs730880106	C>T	Pathogenic-likely-pathogenic	Splice donor variant
rs730880107	A>T	Likely-pathogenic	Splice donor variant
rs730880108	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs730880356	->C	Pathogenic	Frameshift variant, coding sequence variant
rs745680336	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs746167150	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs746201757	G>A,T	Likely-benign, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs747049980	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752891726	T>A,C	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs754351718	T>A,G	Pathogenic	Splice acceptor variant
rs757177349	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs758366498	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs761857514	C>A,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs763091520	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs763173031	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs763449629	C>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs764144407	A>C,G	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs764203302	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs765018527	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs765692335	G>C,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs765842423	A>G,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs765942432	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs768831064	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs770290542	T>C,G	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs770443276	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs772108557	G>A,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs772574901	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs774371494	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs775417975	G>A,C,T	Pathogenic, likely-benign, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs777526851	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs778181932	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs778710767	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs778867355	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs778900586	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs778966916	T>C,G	Likely-benign, likely-pathogenic	Intron variant
rs779749926	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728160	C>T	Pathogenic, benign, likely-pathogenic	Coding sequence variant, missense variant
rs794728161	C>A,T	Pathogenic	Splice acceptor variant
rs794728162	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794728165	G>A	Pathogenic	Coding sequence variant, stop gained
rs794728166	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728167	A>G	Pathogenic	Splice donor variant
rs794728168	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs794728170	C>T	Pathogenic	Coding sequence variant, missense variant
rs794728172	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728174	A>C,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728176	G>T	Pathogenic	Coding sequence variant, stop gained
rs794728178	T>A	Pathogenic	Coding sequence variant, missense variant
rs794728179	G>T	Pathogenic	Coding sequence variant, missense variant
rs794728185	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728187	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728188	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs794728190	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728192	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794728193	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728194	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728195	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728196	G>A	Pathogenic	Coding sequence variant, stop gained
rs794728197	G>A	Pathogenic	Coding sequence variant, stop gained
rs794728199	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728200	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794728202	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794728203	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728204	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728205	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728206	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs794728208	C>T	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs794728209	C>T	Pathogenic	Splice donor variant
rs794728210	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728211	C>A	Pathogenic	Splice acceptor variant
rs794728212	C>T	Pathogenic	Splice donor variant
rs794728215	C>T	Pathogenic	Coding sequence variant, stop gained
rs794728216	T>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs794728217	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs794728218	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794728220	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728221	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728223	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728225	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728228	G>A	Pathogenic	Coding sequence variant, stop gained
rs794728231	G>A	Pathogenic	Coding sequence variant, stop gained
rs794728233	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs794728234	A>T	Pathogenic	Coding sequence variant, stop gained
rs794728235	A>C	Pathogenic	Coding sequence variant, missense variant
rs794728236	A>T	Pathogenic	Coding sequence variant, stop gained
rs794728237	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728238	A>G	Pathogenic	Coding sequence variant, missense variant
rs794728239	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728240	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs794728241	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728244	T>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs794728245	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728246	A>G	Pathogenic	Coding sequence variant, missense variant
rs794728247	C>A,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs794728249	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728251	G>A,C	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs794728252	C>A,G,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728253	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728254	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728255	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728256	C>T	Pathogenic	Coding sequence variant, missense variant
rs794728257	C>T	Pathogenic	Coding sequence variant, missense variant
rs794728265	A>T	Pathogenic	Coding sequence variant, stop gained
rs794728266	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs794728267	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728269	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728270	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728271	C>A	Pathogenic	Coding sequence variant, stop gained
rs794728272	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728274	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728276	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs794728280	T>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728281	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794728282	G>C	Pathogenic	Coding sequence variant, stop gained
rs794728283	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728289	C>G	Pathogenic	Coding sequence variant, missense variant
rs794728291	C>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728292	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs794728293	GCC>ACA	Likely-pathogenic	Coding sequence variant, missense variant
rs794728296	CGTCCATTATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728297	->C	Pathogenic	Frameshift variant, coding sequence variant
rs794728299	->C	Pathogenic	Frameshift variant, coding sequence variant
rs794728300	CA>-	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs794728301	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728302	->A	Pathogenic	Frameshift variant, coding sequence variant
rs794728303	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728304	CCTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728305	->CTAG	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs794728306	->AGGC	Pathogenic	Frameshift variant, coding sequence variant
rs794728308	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728309	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728310	->C	Pathogenic	Frameshift variant, coding sequence variant
rs794728311	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728312	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728313	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728314	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728315	->A	Pathogenic, uncertain-significance	Splice donor variant
rs794728317	->CA	Pathogenic	Frameshift variant, coding sequence variant
rs794728318	->GGTC	Pathogenic	Frameshift variant, coding sequence variant
rs794728319	AT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728320	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728321	->A	Pathogenic	Coding sequence variant, stop gained
rs794728322	C>G	Pathogenic, likely-pathogenic	Splice donor variant
rs794728323	TT>-,T,TTT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728324	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728325	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728326	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728327	C>T	Likely-pathogenic	Intron variant
rs794728331	T>G	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728333	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs794728334	C>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs794728335	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs794728337	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs794728341	->ATTC	Pathogenic	Coding sequence variant, stop gained
rs794728342	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794728343	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728344	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs864309713	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs864622754	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs868403743	C>T	Likely-pathogenic	Splice donor variant
rs869025403	G>C,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs869025404	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869025405	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs869025406	A>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs869025407	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs869025408	T>C	Likely-pathogenic	Synonymous variant, coding sequence variant
rs869025411	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869025412	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869025413	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869025414	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs869025415	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs869025416	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs869025417	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs869025418	T>C	Likely-pathogenic	Splice acceptor variant
rs869025419	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs869025420	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025421	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025422	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025423	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025424	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs869025425	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs869025426	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs876657410	GCCCCGTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs876657645	A>-	Likely-pathogenic	Splice donor variant
rs878853095	TACCCCAG>-	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs878853676	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs878853682	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853685	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853686	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs878853689	A>T	Pathogenic	Coding sequence variant, stop gained
rs886038766	G>A	Pathogenic	Coding sequence variant, stop gained
rs886038769	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038786	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886038790	T>C	Pathogenic	Splice acceptor variant
rs886038795	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, stop gained
rs886038802	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886038804	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038817	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs886038823	CATATCT>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs886038846	TCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038848	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886038869	C>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886038870	G>A	Pathogenic	Coding sequence variant, stop gained
rs886038877	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886038897	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886038898	A>G	Likely-pathogenic	Splice donor variant
rs886038930	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886038937	T>A,G	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs886038940	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886038941	T>A	Pathogenic	Coding sequence variant, stop gained
rs886038943	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886038949	C>T	Pathogenic	Coding sequence variant, missense variant
rs886038953	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886038955	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038956	C>G	Pathogenic	Splice acceptor variant
rs886038957	A>T	Pathogenic	Coding sequence variant, stop gained
rs886038959	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038963	G>A	Pathogenic	Coding sequence variant, stop gained
rs886038967	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886038970	GTCTGCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038972	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs886038975	G>A	Pathogenic	Coding sequence variant, stop gained
rs886038976	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs886038979	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886038990	T>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886038996	C>G	Pathogenic	Splice donor variant
rs886039034	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886039035	G>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs886039036	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039038	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886039047	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886039054	G>T	Pathogenic	Coding sequence variant, stop gained
rs886039066	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039092	A>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886039120	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886039154	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039158	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886039167	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039196	A>T	Pathogenic	Coding sequence variant, stop gained
rs886039360	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039492	A>C	Pathogenic	Coding sequence variant, missense variant
rs886039549	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039550	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041349	CAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041350	AC>-	Pathogenic	Coding sequence variant, stop gained
rs886041440	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886041482	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs886041751	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs886041859	C>A	Pathogenic	Coding sequence variant, stop gained
rs886043709	->AC	Pathogenic	Frameshift variant, coding sequence variant
rs886044547	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886051245	G>A,C,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs987202268	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1008275504	A>C,G	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs1052480459	C>A,G	Uncertain-significance, pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057517851	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517855	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057517910	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518012	CCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518023	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057518034	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518188	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518444	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518554	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518809	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518812	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057518881	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057518883	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518909	CATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518912	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518973	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519320	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519502	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057520131	A>C	Pathogenic	Coding sequence variant, missense variant
rs1057520181	G>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1057520601	G>T	Pathogenic	Stop gained, coding sequence variant
rs1057520617	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057520656	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057520679	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520728	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057521100	C>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057521101	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521102	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057521103	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521211	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521859	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057522272	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522902	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522908	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057523406	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057523654	A>G,T	Likely-pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs1057523796	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1057524458	C>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1057524697	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524757	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501013	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501014	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501016	A>T	Pathogenic	Stop gained, coding sequence variant
rs1060501017	A>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1060501019	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501021	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1060501022	A>G	Pathogenic	Coding sequence variant, missense variant
rs1060501023	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060501024	C>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1060501026	C>G	Pathogenic	Coding sequence variant, missense variant
rs1060501027	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1060501029	T>C,G	Likely-pathogenic	Intron variant
rs1060501031	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501033	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060501034	A>T	Pathogenic	Stop gained, coding sequence variant
rs1060501035	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060501036	C>A,G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1060501038	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501039	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501040	A>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1060501041	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1060501042	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1060501043	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501044	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501047	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060501048	C>G,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1060501050	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501051	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501052	T>C	Likely-pathogenic	Splice acceptor variant
rs1060501053	T>C	Pathogenic	Splice acceptor variant
rs1060501054	C>T	Pathogenic	Coding sequence variant, missense variant
rs1060501055	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501058	TT>G	Pathogenic	Coding sequence variant, frameshift variant
rs1060501059	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501060	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501065	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1060501067	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1060501069	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501070	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501073	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501074	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501075	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501076	C>A,T	Uncertain-significance, pathogenic	Stop gained, coding sequence variant, missense variant
rs1060501077	C>T	Pathogenic	Coding sequence variant, missense variant
rs1060501078	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs1060501082	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060501086	C>T	Pathogenic	Coding sequence variant, missense variant
rs1060501087	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501089	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501092	C>T	Likely-pathogenic	Splice donor variant
rs1060501093	T>C	Pathogenic	Coding sequence variant, missense variant
rs1060501094	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501095	G>T	Pathogenic	Stop gained, coding sequence variant
rs1060501096	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501100	GACCCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793113	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793114	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793115	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793116	C>T	Likely-pathogenic	Splice donor variant
rs1064793117	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793118	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793374	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793503	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793510	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793559	G>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1064793633	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793636	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793637	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793643	CATCTGCAGAAAA>-	Pathogenic	Intron variant, coding sequence variant, splice acceptor variant
rs1064793723	CGGACCAACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793770	GCCAGCAATAGGCAGGGTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793914	C>A	Pathogenic	Splice acceptor variant
rs1064793946	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793980	C>G,T	Pathogenic	Splice donor variant
rs1064793989	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794025	A>G	Pathogenic	Coding sequence variant, missense variant
rs1064794130	AAGTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794139	T>C	Pathogenic	Splice acceptor variant
rs1064794282	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1064794283	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1064794796	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794882	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1064796522	CACGCGGAG>AACGCGGAC	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796636	C>T	Pathogenic-likely-pathogenic	Splice donor variant
rs1064796667	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796731	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796866	C>T	Likely-pathogenic	Splice donor variant
rs1064797059	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307468	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307490	CATT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307531	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1085307786	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1085307887	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307904	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307921	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307946	C>G,T	Uncertain-significance, likely-pathogenic	Intron variant
rs1085308004	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1131691311	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691317	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691373	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1131691467	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691478	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691479	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691578	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691588	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691604	T>A	Pathogenic	Splice acceptor variant
rs1131691656	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691692	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691730	A>G	Pathogenic	Splice donor variant
rs1131691766	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691772	T>C	Likely-pathogenic	Splice acceptor variant
rs1131691803	C>A	Pathogenic	Coding sequence variant, missense variant
rs1131691804	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1131691805	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691806	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1131691871	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691938	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131692049	->GAAT	Pathogenic	Coding sequence variant, frameshift variant
rs1131692050	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131692052	A>C	Pathogenic	Coding sequence variant, missense variant
rs1156747241	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1156984408	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1199524458	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1206813753	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1232880706	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1245476075	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1246984265	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1260109901	C>T	Likely-pathogenic	Splice donor variant
rs1293095681	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1296209846	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1303389437	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1304643689	C>A,G	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1346043320	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1352478541	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1364210063	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1366894709	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1404133653	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1439533354	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1445085747	C>T	Uncertain-significance, pathogenic	Intron variant
rs1479709398	G>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1480832655	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs1555393508	C>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs1555393510	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555393513	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555393516	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393525	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393532	T>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555393538	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555393539	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555393548	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393551	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555393565	->CA	Likely-pathogenic	Stop gained, coding sequence variant
rs1555393647	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555393652	T>A	Pathogenic	Stop gained, coding sequence variant
rs1555393653	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393657	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555393666	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393823	CC>A	Pathogenic	Splice donor variant, coding sequence variant
rs1555393825	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393827	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393831	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393833	A>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555393837	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393844	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555393847	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393848	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555393856	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555393858	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555393859	C>A,G	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs1555393862	TCCTCCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393863	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393865	->CTCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555393866	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1555393875	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555393882	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393886	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555393889	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394138	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555394142	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555394144	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555394146	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs1555394148	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1555394149	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394151	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555394152	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394153	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394189	C>T	Likely-pathogenic	Splice donor variant
rs1555394195	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1555394196	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555394197	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394206	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394210	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394212	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394218	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394220	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394235	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555394238	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394242	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394243	T>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555394245	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394246	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394390	C>G	Pathogenic	Missense variant, coding sequence variant
rs1555394391	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394396	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394397	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555394398	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394399	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394400	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394402	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1555394406	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394407	->A	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555394408	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394409	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394412	C>G	Likely-pathogenic	Splice acceptor variant
rs1555394433	C>T	Pathogenic	Splice donor variant
rs1555394435	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394436	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394437	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394441	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394445	->TCGTG	Pathogenic	Coding sequence variant, frameshift variant
rs1555394450	T>G	Likely-pathogenic	Splice acceptor variant
rs1555394556	A>G	Likely-pathogenic	Splice donor variant
rs1555394557	C>A,T	Likely-pathogenic	Splice donor variant
rs1555394559	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394561	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394562	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394566	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394567	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1555394569	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555394570	C>A,G	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555394571	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394574	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394579	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394580	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555394581	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555394582	G>A,C	Uncertain-significance, likely-benign, likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1555394585	T>A	Pathogenic	Splice acceptor variant
rs1555394623	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394626	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555394628	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555394629	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394630	ACGGGTGTTGAGGCAGCGC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394631	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394633	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394634	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394641	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394644	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555394647	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394753	C>A,T	Pathogenic	Splice donor variant
rs1555394756	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555394775	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394776	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394777	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394779	->GT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394780	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394781	C>A,T	Pathogenic	Splice acceptor variant
rs1555394783	T>-	Likely-pathogenic	Splice acceptor variant
rs1555394900	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394901	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394904	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394906	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555394925	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555394927	CAGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555394928	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555394999	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395001	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555395002	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395004	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395009	->CA	Pathogenic	Stop gained, coding sequence variant
rs1555395013	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395015	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555395187	A>C	Pathogenic	Splice donor variant
rs1555395188	C>T	Likely-pathogenic	Splice donor variant
rs1555395191	C>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1555395193	CAGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395203	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395205	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395206	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555395209	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555395210	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555395225	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395228	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395229	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555395257	A>G	Likely-pathogenic, pathogenic	Splice donor variant
rs1555395260	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555395261	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555395263	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395266	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555395267	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395456	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555395461	CCACT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395475	G>C,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs1555395480	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395482	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555395483	GACACACTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555395486	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555395489	C>T	Pathogenic	Splice acceptor variant
rs1555395636	TGCTACAACTGATAGCTTTCCTA>-	Likely-pathogenic	Splice donor variant, intron variant
rs1555395638	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395640	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395641	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555395648	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395652	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395653	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555395658	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395659	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395661	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395663	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555395670	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395742	A>G	Likely-pathogenic	Intron variant
rs1555395745	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395747	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395750	G>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1555395753	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395756	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395757	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395762	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395766	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555395767	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395818	A>G	Likely-pathogenic	Splice donor variant
rs1555395819	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1555395820	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555395825	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395826	G>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555395840	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395843	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395846	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395849	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1555395972	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555395978	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395980	A>G	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1555395981	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555395984	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555395985	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555395987	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555395989	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555395990	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555396185	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396186	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396188	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396198	A>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555396199	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555396201	G>C,T	Pathogenic	Stop gained, coding sequence variant
rs1555396202	->GCAGTGTTGATGCA	Pathogenic	Coding sequence variant, frameshift variant
rs1555396205	CA>AT	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396213	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396417	A>G	Likely-pathogenic	Splice donor variant
rs1555396418	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396419	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396424	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555396426	A>C	Pathogenic	Missense variant, coding sequence variant
rs1555396427	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555396428	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555396429	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555396435	C>T	Pathogenic	Splice acceptor variant
rs1555396629	A>G	Likely-pathogenic	Intron variant
rs1555396630	C>G	Likely-pathogenic	Splice donor variant
rs1555396635	TCCACAGAGTGTAGCAAACTCATCT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1555396636	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396638	->TA	Pathogenic	Coding sequence variant, frameshift variant
rs1555396639	T>G	Likely-pathogenic	Splice acceptor variant
rs1555396754	->CCTGTAC	Pathogenic	Splice donor variant, coding sequence variant
rs1555396757	TGGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396760	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555396765	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555396769	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396783	GTAGTTTCTGTAGCACAAACTTCT>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555396789	TCT>-	Likely-pathogenic, uncertain-significance	Inframe deletion, coding sequence variant
rs1555396835	->A	Uncertain-significance, pathogenic	Splice donor variant
rs1555396837	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396838	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555396844	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396848	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396853	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555396858	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396859	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555396861	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396863	C>T	Likely-pathogenic	Splice acceptor variant
rs1555396990	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555396991	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555396993	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555396998	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397000	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397004	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555397007	A>TG	Pathogenic	Coding sequence variant, frameshift variant
rs1555397008	T>C	Likely-pathogenic	Splice acceptor variant
rs1555397014	C>A,G,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1555397016	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397022	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397024	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397148	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397154	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555397160	CAAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397163	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397173	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397174	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397176	C>T	Likely-pathogenic	Splice acceptor variant
rs1555397193	A>C	Pathogenic	Splice donor variant
rs1555397194	->A	Likely-pathogenic	Splice donor variant
rs1555397195	C>A	Pathogenic	Splice donor variant
rs1555397197	CA>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555397198	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397199	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555397201	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397203	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397204	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397206	CACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397210	TTGACACAGTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397212	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555397213	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397214	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397216	T>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555397393	A>C	Likely-pathogenic	Splice donor variant
rs1555397403	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397413	T>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397419	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1555397420	->CTCA	Likely-pathogenic	Stop gained, coding sequence variant
rs1555397421	A>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397424	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs1555397536	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397537	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397540	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397542	CA>-	Likely-pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555397543	A>C	Pathogenic	Missense variant, coding sequence variant
rs1555397545	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555397546	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555397548	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397556	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397557	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555397562	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555397646	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555397652	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397655	ACAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555397658	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555397663	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555397670	A>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397671	T>G	Pathogenic	Splice acceptor variant
rs1555397692	C>T	Likely-pathogenic	Intron variant
rs1555397704	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397707	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397713	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397718	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397719	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397720	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555397723	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397733	->GAGTTGTGTGCCA	Pathogenic	Coding sequence variant, frameshift variant
rs1555397736	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555397738	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555397743	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555397744	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398137	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555398139	TC>A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398143	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398144	T>-,TT	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555398148	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398152	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555398160	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555398170	G>-	Pathogenic	Stop gained, coding sequence variant
rs1555398173	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555398174	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398176	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398178	CATCTGTAA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1555398179	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398272	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398276	TAACACA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398278	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555398279	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398282	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555398283	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555398287	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398380	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398382	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555398394	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398395	->T	Pathogenic	Stop gained, coding sequence variant
rs1555398397	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555398401	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398404	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555398406	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555398407	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398409	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398413	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398501	C>A	Pathogenic	Splice donor variant
rs1555398508	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555398510	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1555398511	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555398513	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555398515	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398520	T>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555398521	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398527	TG>CTT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398551	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398564	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555398566	GTAACTTCCCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398572	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398580	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398582	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398622	->ATCA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398624	A>G,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1555398625	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555398627	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398633	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398637	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555398640	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555398642	TCAGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398645	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555398648	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398659	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398667	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398672	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398673	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555398677	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555398680	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398681	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398683	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398684	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398685	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555398753	GACCAAACAGTTAAAAACAAAAAGTTCATACTTTTCTAAACAAAGATAATTATATAATTCAGAAAGCAAAAAGTCCATGCTGGGATGATCAAGTAGAGTGCTGAGATCATGAAAATGCATCCTATTTGTCTAAAAAGGGAGGCAATTGGCCATGGAAAACGTAACATTGTACCTTTGAAGAAAGGCTTTCCATT>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs1555398769	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398774	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398793	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398803	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555398811	TACCCCAGGCTGCCCCGACGGAG>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555398816	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398821	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398825	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398826	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398828	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1555398830	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555398832	CGTCCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398833	GTACCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555398834	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398835	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555398836	A>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555398837	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555398974	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555398976	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555398981	CAC>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs1555398988	AGGCCATTTTTACACAC>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555398989	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555398994	A>C,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398995	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555398996	C>A,T	Likely-pathogenic, pathogenic	Missense variant, stop gained, coding sequence variant
rs1555399089	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399093	->CC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399094	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399095	TACCACATATG>GGTAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1555399101	T>C	Likely-pathogenic	Splice acceptor variant
rs1555399143	T>C	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1555399144	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399145	A>T	Pathogenic	Missense variant, coding sequence variant
rs1555399146	TAGGGTGCACG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555399147	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555399158	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555399159	->TGAT	Pathogenic	Coding sequence variant, frameshift variant
rs1555399160	->A	Pathogenic	Stop gained, coding sequence variant
rs1555399162	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399164	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555399165	A>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399166	->TG	Pathogenic	Coding sequence variant, frameshift variant
rs1555399193	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399195	AAAGTACTTTCA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555399202	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399204	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399206	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555399210	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399214	C>A	Likely-pathogenic	Splice acceptor variant
rs1555399257	C>T	Likely-pathogenic	Splice donor variant
rs1555399270	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399271	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555399273	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555399281	TAAT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399361	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555399368	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399371	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555399372	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399378	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399379	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555399381	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555399385	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399387	C>A	Likely-pathogenic	Splice acceptor variant
rs1555399388	T>C	Pathogenic	Splice acceptor variant
rs1555399477	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399481	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399482	GCCTGATATT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399484	C>G	Pathogenic	Splice acceptor variant
rs1555399748	AC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399761	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399762	->CAACA	Pathogenic	Coding sequence variant, frameshift variant
rs1555399763	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399764	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399769	->GGCCT	Pathogenic	Coding sequence variant, frameshift variant
rs1555399770	C>ATACA	Pathogenic	Coding sequence variant, frameshift variant
rs1555399775	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399779	T>C	Pathogenic	Splice acceptor variant
rs1555399802	A>C,G	Likely-pathogenic	Splice donor variant
rs1555399804	C>G	Pathogenic	Splice donor variant
rs1555399816	T>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs1555399821	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399825	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555399827	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555399835	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555399836	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555399837	GTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555399839	TG>ACCTTC	Pathogenic	Coding sequence variant, frameshift variant
rs1555399840	C>T	Likely-pathogenic	Splice acceptor variant
rs1555399940	A>G	Pathogenic	Splice donor variant
rs1555399944	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399949	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555399953	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555399954	G>C	Pathogenic	Missense variant, coding sequence variant
rs1555399955	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399958	T>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555399959	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555399963	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555399968	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1555399974	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555399976	T>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555399977	C>T	Pathogenic	Splice acceptor variant
rs1555400049	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555400052	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400062	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400064	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400066	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555400077	C>T	Pathogenic	Splice acceptor variant
rs1555400267	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555400268	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555400274	->T	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555400279	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555400281	T>C	Pathogenic	Missense variant, coding sequence variant
rs1555400285	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555400288	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555400372	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400373	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555400374	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555400378	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400379	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555400380	A>C,G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555400383	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555400385	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555400387	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555400406	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555400410	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555400431	C>T	Likely-pathogenic	Splice acceptor variant
rs1555400595	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400598	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555400601	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400603	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400604	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400605	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555400609	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555400612	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555400616	C>G	Pathogenic	Splice acceptor variant
rs1555401002	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555401004	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555401005	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555401011	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555401667	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555401670	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555401671	GTGAGGCTGGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555401676	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555401679	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555401686	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555401687	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555401689	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555401695	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555401697	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555401699	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555401701	ATG>-	Likely-pathogenic	Coding sequence variant, inframe indel
rs1555404799	A>G	Pathogenic	Splice donor variant
rs1555404800	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555404803	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555404806	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555404810	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555404819	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555404820	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555404821	C>T	Likely-pathogenic	Splice acceptor variant
rs1555405028	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555405031	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555405039	G>C,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs1555405041	A>C,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555405042	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555405043	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555405044	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555405045	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555405046	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555405056	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1555405528	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555405530	GC>TT	Pathogenic	Stop gained, coding sequence variant
rs1555405533	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555405534	TGC>AG	Pathogenic	Coding sequence variant, frameshift variant
rs1555405536	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555405537	G>C	Likely-pathogenic	Intron variant
rs1555405658	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555405664	->ACA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1555405673	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1566888689	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566888718	GATGGCTGTCTTCTCAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566889188	A>G	Pathogenic	Coding sequence variant, missense variant
rs1566889870	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566890005	C>A	Pathogenic	Coding sequence variant, stop gained
rs1566891404	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566891406	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566891454	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566891645	C>T	Pathogenic	Coding sequence variant, missense variant
rs1566891654	C>A	Pathogenic	Coding sequence variant, missense variant
rs1566891668	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566891701	A>G	Pathogenic	Coding sequence variant, missense variant
rs1566891706	C>T	Likely-pathogenic	Splice acceptor variant
rs1566891797	C>T	Pathogenic	Intron variant
rs1566891808	G>A	Pathogenic	Coding sequence variant, stop gained
rs1566891846	ATAGGAAC>CATTGTGTTGTTTGGTTGTGTTGCT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566892727	G>A	Pathogenic	Coding sequence variant, stop gained
rs1566892735	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1566892757	A>G	Pathogenic	Coding sequence variant, missense variant
rs1566892872	G>C	Likely-pathogenic	Coding sequence variant, stop gained
rs1566892883	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566892906	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1566892915	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566893738	->TGTA	Pathogenic	Coding sequence variant, frameshift variant
rs1566894226	ACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACAGATGCACATATATGTGCCAATGAGGTTCTTGCATTCCATTTGTTTTTCAGTACAGTCATGTTTTCCCTCTTCACACTCATCCTCATCT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1566894230	C>A,G,T	Uncertain-significance, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1566894262	C>T	Pathogenic	Coding sequence variant, missense variant
rs1566894288	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566894334	G>C	Likely-pathogenic	Intron variant
rs1566895223	TCACATGTCATCATTGGACCGGGCTCAAATCCCTCCTCGCAGGTGCATTCAAAACCTCCAATCACATTCTTGCAGGTTCCATTTCCACAAGGATTGCCAACAGAACATTCATCAGTATCT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1566895225	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1566895262	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566895263	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566896070	CATCTGTATTGATGCACTGTCCATGTTTAC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1566896114	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566897374	C>T	Likely-pathogenic	Splice donor variant
rs1566897376	TGGCACCTTCTTCCACTGGAGGACAAGGAAAACCCTTCTGGACACAGACATTTGAAGCTGCCTTCAGTGTTACTGCATGTGCCCAGGGCACAAATTTCTGGCTCTTCGACACACTCATCAATATCT>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1566897404	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1566897420	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566898120	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566898144	C>G,T	Pathogenic	Splice acceptor variant
rs1566898399	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566898741	A>C	Likely-pathogenic	Intron variant
rs1566898828	TTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566898852	TGTCT>AGTCA	Pathogenic	Splice acceptor variant, coding sequence variant
rs1566899500	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1566899541	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566899590	C>T	Likely-pathogenic	Splice acceptor variant
rs1566900469	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1566900473	G>A	Pathogenic	Coding sequence variant, stop gained
rs1566900492	CA>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1566900540	T>C	Pathogenic	Splice acceptor variant
rs1566901570	CC>AA	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1566901605	GCT>AGTC	Pathogenic	Coding sequence variant, frameshift variant
rs1566902515	C>G	Pathogenic	Intron variant
rs1566902526	AACGGGTAAACCGGTATAAATGTCGATGACAAAGCCTGGCCTTTGACTTCCACAGAGTGTAGCAAACTCATC>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs1566902569	C>A	Pathogenic	Coding sequence variant, missense variant
rs1566903283	->CACAAACTTCTTCTCATATCTAGAAGGGAG	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1566903532	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566903907	C>T	Pathogenic	Splice donor variant
rs1566903914	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566903921	G>T	Pathogenic	Coding sequence variant, stop gained
rs1566903931	AC>CA	Likely-pathogenic	Coding sequence variant, missense variant
rs1566903995	CC>AG	Likely-pathogenic	Coding sequence variant, stop gained
rs1566904011	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566904526	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566905976	AG>-	Pathogenic	Coding sequence variant, stop gained
rs1566905978	G>T	Pathogenic	Coding sequence variant, stop gained
rs1566906389	AAGCCATCACCTGTGTATCCTTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566906537	A>C	Pathogenic	Coding sequence variant, missense variant
rs1566908063	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1566908947	->TGCTGCATTCATCA	Pathogenic	Coding sequence variant, frameshift variant
rs1566908956	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566909483	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1566909762	C>-	Pathogenic	Coding sequence variant, splice donor variant
rs1566909766	C>T	Pathogenic	Coding sequence variant, missense variant
rs1566909885	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566910251	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1566911331	CC>TT	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1566911709	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566911724	GGGC>TTTATT	Pathogenic	Coding sequence variant, stop gained
rs1566911908	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566911942	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566911957	GTACACATTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566913670	C>A,G,T	Pathogenic	Splice donor variant
rs1566913685	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1566913974	A>C	Pathogenic	Coding sequence variant, missense variant
rs1566913982	G>-,GG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1566914030	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1566914907	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566915277	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566915335	T>C	Likely-pathogenic	Intron variant
rs1566916969	A>T	Pathogenic	Coding sequence variant, stop gained
rs1566917979	T>A	Pathogenic	Coding sequence variant, stop gained
rs1566918060	CGTTTGTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566918075	->T	Pathogenic	Coding sequence variant, stop gained
rs1566919599	TACCATCTGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566919637	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566922396	C>T	Pathogenic	Coding sequence variant, missense variant
rs1566922422	TG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566935514	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1566935517	C>T	Pathogenic	Coding sequence variant, missense variant
rs1566937712	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1566938153	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597506547	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597506641	T>A	Pathogenic	Coding sequence variant, stop gained
rs1597506811	AG>-,AGAG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597506905	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597507712	A>T	Pathogenic	Coding sequence variant, stop gained
rs1597507763	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597507783	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597509607	CTCGGTATTGGAACAGCC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1597509631	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597509674	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597509701	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597509836	C>G	Pathogenic	Splice acceptor variant
rs1597512576	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597512600	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597512636	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597512677	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597513319	GC>TT	Pathogenic	Coding sequence variant, stop gained
rs1597513323	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597513708	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597516325	TTAC>-	Likely-pathogenic	Splice donor variant, intron variant
rs1597516347	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597516501	ATAACCTTGC>TCTGTA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597516509	AACCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597517771	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1597517858	->TCCG	Pathogenic	Coding sequence variant, frameshift variant
rs1597517935	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597517970	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597518038	CGATCTGACACATGTTTTGTAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597518081	->CACCTCTGTGAAGCAG	Pathogenic	Coding sequence variant, frameshift variant
rs1597518796	->A	Pathogenic	Coding sequence variant, stop gained
rs1597518951	C>A	Pathogenic	Splice acceptor variant
rs1597519658	T>C	Likely-pathogenic	Intron variant
rs1597520619	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597520625	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597520683	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597520781	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597522390	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597522415	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597522485	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597522553	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597522557	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597522572	CATTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597522584	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597522588	T>G	Likely-pathogenic	Splice acceptor variant
rs1597523768	C>A	Pathogenic	Coding sequence variant, missense variant
rs1597523873	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597525871	C>-	Pathogenic	Coding sequence variant, splice donor variant
rs1597526073	C>A	Pathogenic	Splice acceptor variant
rs1597526729	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597529686	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597529748	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597529775	->A	Pathogenic	Coding sequence variant, stop gained
rs1597529826	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597529829	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597529841	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597531796	C>A	Pathogenic	Coding sequence variant, missense variant
rs1597532579	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597533707	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597533713	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597535300	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597535305	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597537698	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1597537815	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597537858	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1597537935	A>G	Pathogenic	Coding sequence variant, missense variant
rs1597540854	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597540907	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597540923	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1597543486	->TCCA	Pathogenic	Coding sequence variant, frameshift variant
rs1597545199	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597545230	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597545257	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597545309	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597545345	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597545836	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597546984	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597547030	G>T	Pathogenic	Coding sequence variant, stop gained
rs1597547075	->GCTCCTGGCA	Pathogenic	Coding sequence variant, frameshift variant
rs1597547226	A>G	Pathogenic	Splice donor variant
rs1597548672	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597548716	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597548734	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597552388	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597552583	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597553721	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597554086	->GTACCAATACAGCAGGAAGCTTCAAATGTAGCTTCCTGCTGTAT	Likely-pathogenic	Inframe indel, coding sequence variant, stop gained
rs1597558920	A>G	Pathogenic	Coding sequence variant, missense variant
rs1597559048	G>-	Pathogenic	Coding sequence variant, stop gained
rs1597562812	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597563234	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597563274	CACCTC>ACTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1597563280	TCGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597563287	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597563316	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597563323	TCA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1597563934	C>G	Pathogenic	Coding sequence variant, missense variant
rs1597564038	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597564359	G>T	Pathogenic	Coding sequence variant, stop gained
rs1597565298	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597567246	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597567249	A>G	Pathogenic	Coding sequence variant, missense variant
rs1597568290	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597568822	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597568880	A>T	Pathogenic	Coding sequence variant, missense variant
rs1597568968	C>T	Pathogenic	Coding sequence variant, stop gained
rs1597569159	A>C	Pathogenic	Splice donor variant
rs1597569172	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597569265	G>C	Pathogenic	Coding sequence variant, stop gained
rs1597569536	A>C	Pathogenic	Splice donor variant
rs1597569551	A>C	Pathogenic	Coding sequence variant, missense variant
rs1597569553	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597569560	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597569589	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1597571360	TGCTGACGTCATTCCTGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597571391	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1597574166	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597574236	A>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1597574308	ATGTGCTCCGCATGTGTGTG>CT	Likely-pathogenic	Inframe indel, coding sequence variant
rs1597577114	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597577975	TCTG>AC	Pathogenic	Coding sequence variant, frameshift variant
rs1597578071	A>T	Pathogenic	Intron variant
rs1597579923	G>A	Pathogenic	Coding sequence variant, stop gained
rs1597579948	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1597580984	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1597581001	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597581005	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597581008	GA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597583989	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1597584082	G>T	Pathogenic	Coding sequence variant, stop gained
rs1597587453	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1597587532	TTGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597587564	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597591602	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597591643	T>AAGTTTGTGTCCAGCAGGGCATTGTGTCCA	Pathogenic	Coding sequence variant, frameshift variant
rs1597591735	TCTGTCAGATTACAGAAGACA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1597593695	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1597593736	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597593852	G>C	Pathogenic	Coding sequence variant, stop gained
rs1597623670	G>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1597625734	C>A	Pathogenic	Coding sequence variant, stop gained
rs1597631624	->TGAC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1597631662	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1597633163	C>T	Pathogenic	Coding sequence variant, missense variant
rs1597633183	A>C	Pathogenic	Coding sequence variant, stop gained
rs1597633219	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003829	hsa-miR-29c-3p	Luciferase reporter assay, qRT-PCR	18390668
MIRT021695	hsa-miR-133a-3p	Microarray	21396852
MIRT023759	hsa-miR-1-3p	Proteomics	18668040
MIRT024378	hsa-miR-215-5p	Microarray	19074876
MIRT026557	hsa-miR-192-5p	Microarray	19074876
MIRT028608	hsa-miR-30a-5p	Proteomics	18668040
MIRT046011	hsa-miR-125b-5p	CLASH	23622248
MIRT437547	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT437555	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT003829	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437569	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT437547	hsa-miR-29a-3p	Western blot, Luciferase reporter assay, Immunofluorescence	25241894
MIRT437547	hsa-miR-29a-3p	Western blot, Luciferase reporter assay, Immunofluorescence	25241894
MIRT731367	hsa-miR-486-5p	Luciferase reporter assay	27133060
MIRT731367	hsa-miR-486-5p	Luciferase reporter assay	27133060
MIRT731367	hsa-miR-486-5p	Luciferase reporter assay	27133060
MIRT731367	hsa-miR-486-5p	Luciferase reporter assay	27133060
MIRT735421	hsa-miR-588	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, In situ hybridization	32169113
MIRT990089	hsa-miR-1229	CLIP-seq
MIRT990090	hsa-miR-1238	CLIP-seq
MIRT990091	hsa-miR-1266	CLIP-seq
MIRT990092	hsa-miR-1279	CLIP-seq
MIRT990093	hsa-miR-1305	CLIP-seq
MIRT990094	hsa-miR-216a	CLIP-seq
MIRT990095	hsa-miR-23a	CLIP-seq
MIRT990096	hsa-miR-23b	CLIP-seq
MIRT990097	hsa-miR-23c	CLIP-seq
MIRT990098	hsa-miR-25	CLIP-seq
MIRT990099	hsa-miR-3159	CLIP-seq
MIRT990100	hsa-miR-32	CLIP-seq
MIRT990101	hsa-miR-342-3p	CLIP-seq
MIRT990102	hsa-miR-363	CLIP-seq
MIRT990103	hsa-miR-3664-3p	CLIP-seq
MIRT990104	hsa-miR-367	CLIP-seq
MIRT990105	hsa-miR-4328	CLIP-seq
MIRT990106	hsa-miR-4457	CLIP-seq
MIRT990107	hsa-miR-4480	CLIP-seq
MIRT990108	hsa-miR-4518	CLIP-seq
MIRT990109	hsa-miR-4642	CLIP-seq
MIRT990110	hsa-miR-4679	CLIP-seq
MIRT990111	hsa-miR-4761-3p	CLIP-seq
MIRT990112	hsa-miR-4789-3p	CLIP-seq
MIRT990113	hsa-miR-4799-5p	CLIP-seq
MIRT990114	hsa-miR-498	CLIP-seq
MIRT990115	hsa-miR-5096	CLIP-seq
MIRT990116	hsa-miR-513a-3p	CLIP-seq
MIRT990117	hsa-miR-513b	CLIP-seq
MIRT990118	hsa-miR-520d-5p	CLIP-seq
MIRT990119	hsa-miR-524-5p	CLIP-seq
MIRT990120	hsa-miR-92a	CLIP-seq
MIRT990121	hsa-miR-92b	CLIP-seq
MIRT1548599	hsa-miR-101	CLIP-seq
MIRT1548600	hsa-miR-1252	CLIP-seq
MIRT1548601	hsa-miR-1264	CLIP-seq
MIRT990092	hsa-miR-1279	CLIP-seq
MIRT990093	hsa-miR-1305	CLIP-seq
MIRT1548602	hsa-miR-133a	CLIP-seq
MIRT1548603	hsa-miR-133b	CLIP-seq
MIRT1548604	hsa-miR-144	CLIP-seq
MIRT990095	hsa-miR-23a	CLIP-seq
MIRT990096	hsa-miR-23b	CLIP-seq
MIRT990097	hsa-miR-23c	CLIP-seq
MIRT990098	hsa-miR-25	CLIP-seq
MIRT1548605	hsa-miR-29a	CLIP-seq
MIRT1548606	hsa-miR-29b	CLIP-seq
MIRT1548607	hsa-miR-29c	CLIP-seq
MIRT990100	hsa-miR-32	CLIP-seq
MIRT1548608	hsa-miR-329	CLIP-seq
MIRT1548609	hsa-miR-362-3p	CLIP-seq
MIRT990102	hsa-miR-363	CLIP-seq
MIRT990104	hsa-miR-367	CLIP-seq
MIRT1548610	hsa-miR-3688-3p	CLIP-seq
MIRT1548611	hsa-miR-380	CLIP-seq
MIRT1548612	hsa-miR-3941	CLIP-seq
MIRT990105	hsa-miR-4328	CLIP-seq
MIRT990109	hsa-miR-4642	CLIP-seq
MIRT1548613	hsa-miR-4666-5p	CLIP-seq
MIRT990110	hsa-miR-4679	CLIP-seq
MIRT1548614	hsa-miR-4699-3p	CLIP-seq
MIRT1548615	hsa-miR-4775	CLIP-seq
MIRT990112	hsa-miR-4789-3p	CLIP-seq
MIRT1548616	hsa-miR-4789-5p	CLIP-seq
MIRT1548617	hsa-miR-488	CLIP-seq
MIRT990114	hsa-miR-498	CLIP-seq
MIRT990118	hsa-miR-520d-5p	CLIP-seq
MIRT990119	hsa-miR-524-5p	CLIP-seq
MIRT1548618	hsa-miR-582-5p	CLIP-seq
MIRT1548619	hsa-miR-603	CLIP-seq
MIRT1548620	hsa-miR-885-5p	CLIP-seq
MIRT1548621	hsa-miR-9	CLIP-seq
MIRT990120	hsa-miR-92a	CLIP-seq
MIRT990121	hsa-miR-92b	CLIP-seq
MIRT1993412	hsa-miR-2467-5p	CLIP-seq
MIRT1993413	hsa-miR-3188	CLIP-seq
MIRT1548608	hsa-miR-329	CLIP-seq
MIRT1548609	hsa-miR-362-3p	CLIP-seq
MIRT1548612	hsa-miR-3941	CLIP-seq
MIRT1993414	hsa-miR-3975	CLIP-seq
MIRT1993415	hsa-miR-4649-3p	CLIP-seq
MIRT1993416	hsa-miR-4687-3p	CLIP-seq
MIRT1993417	hsa-miR-485-5p	CLIP-seq
MIRT1548618	hsa-miR-582-5p	CLIP-seq
MIRT1548619	hsa-miR-603	CLIP-seq
MIRT2227298	hsa-miR-2052	CLIP-seq
MIRT2227299	hsa-miR-4307	CLIP-seq
MIRT2227300	hsa-miR-494	CLIP-seq
MIRT990118	hsa-miR-520d-5p	CLIP-seq
MIRT990119	hsa-miR-524-5p	CLIP-seq
MIRT1548618	hsa-miR-582-5p	CLIP-seq
MIRT1548620	hsa-miR-885-5p	CLIP-seq
MIRT990089	hsa-miR-1229	CLIP-seq
MIRT990101	hsa-miR-342-3p	CLIP-seq
MIRT990106	hsa-miR-4457	CLIP-seq
MIRT990116	hsa-miR-513a-3p	CLIP-seq
MIRT990117	hsa-miR-513b	CLIP-seq
MIRT1548599	hsa-miR-101	CLIP-seq
MIRT1548601	hsa-miR-1264	CLIP-seq
MIRT2428772	hsa-miR-1272	CLIP-seq
MIRT2428773	hsa-miR-1275	CLIP-seq
MIRT990093	hsa-miR-1305	CLIP-seq
MIRT2428774	hsa-miR-1322	CLIP-seq
MIRT1548602	hsa-miR-133a	CLIP-seq
MIRT1548603	hsa-miR-133b	CLIP-seq
MIRT2428775	hsa-miR-1343	CLIP-seq
MIRT1548604	hsa-miR-144	CLIP-seq
MIRT2428776	hsa-miR-190	CLIP-seq
MIRT2428777	hsa-miR-190b	CLIP-seq
MIRT2428778	hsa-miR-203	CLIP-seq
MIRT2428779	hsa-miR-21	CLIP-seq
MIRT990095	hsa-miR-23a	CLIP-seq
MIRT990096	hsa-miR-23b	CLIP-seq
MIRT990097	hsa-miR-23c	CLIP-seq
MIRT1993412	hsa-miR-2467-5p	CLIP-seq
MIRT1548605	hsa-miR-29a	CLIP-seq
MIRT1548606	hsa-miR-29b	CLIP-seq
MIRT1548607	hsa-miR-29c	CLIP-seq
MIRT2428780	hsa-miR-3074-5p	CLIP-seq
MIRT2428781	hsa-miR-3168	CLIP-seq
MIRT1993413	hsa-miR-3188	CLIP-seq
MIRT1548608	hsa-miR-329	CLIP-seq
MIRT2428782	hsa-miR-340	CLIP-seq
MIRT2428783	hsa-miR-3614-5p	CLIP-seq
MIRT1548609	hsa-miR-362-3p	CLIP-seq
MIRT2428784	hsa-miR-3682-3p	CLIP-seq
MIRT1548611	hsa-miR-380	CLIP-seq
MIRT2428785	hsa-miR-3920	CLIP-seq
MIRT1548612	hsa-miR-3941	CLIP-seq
MIRT1993414	hsa-miR-3975	CLIP-seq
MIRT2428786	hsa-miR-425	CLIP-seq
MIRT990105	hsa-miR-4328	CLIP-seq
MIRT2428787	hsa-miR-4525	CLIP-seq
MIRT2428788	hsa-miR-4539	CLIP-seq
MIRT2428789	hsa-miR-4637	CLIP-seq
MIRT2428790	hsa-miR-4643	CLIP-seq
MIRT2428791	hsa-miR-4665-5p	CLIP-seq
MIRT1548613	hsa-miR-4666-5p	CLIP-seq
MIRT2428792	hsa-miR-4668-5p	CLIP-seq
MIRT1993416	hsa-miR-4687-3p	CLIP-seq
MIRT1548614	hsa-miR-4699-3p	CLIP-seq
MIRT2428793	hsa-miR-4723-5p	CLIP-seq
MIRT2428794	hsa-miR-4724-5p	CLIP-seq
MIRT990111	hsa-miR-4761-3p	CLIP-seq
MIRT2428795	hsa-miR-4762-3p	CLIP-seq
MIRT1548615	hsa-miR-4775	CLIP-seq
MIRT990112	hsa-miR-4789-3p	CLIP-seq
MIRT1548616	hsa-miR-4789-5p	CLIP-seq
MIRT2428796	hsa-miR-4795-3p	CLIP-seq
MIRT1993417	hsa-miR-485-5p	CLIP-seq
MIRT990114	hsa-miR-498	CLIP-seq
MIRT2428797	hsa-miR-508-3p	CLIP-seq
MIRT2428798	hsa-miR-509-3p	CLIP-seq
MIRT990118	hsa-miR-520d-5p	CLIP-seq
MIRT990119	hsa-miR-524-5p	CLIP-seq
MIRT2428799	hsa-miR-563	CLIP-seq
MIRT1548618	hsa-miR-582-5p	CLIP-seq
MIRT2428800	hsa-miR-590-5p	CLIP-seq
MIRT1548619	hsa-miR-603	CLIP-seq
MIRT2428801	hsa-miR-624	CLIP-seq
MIRT2428802	hsa-miR-625	CLIP-seq
MIRT2428803	hsa-miR-659	CLIP-seq
MIRT1548620	hsa-miR-885-5p	CLIP-seq
MIRT2428804	hsa-miR-890	CLIP-seq
MIRT1548621	hsa-miR-9	CLIP-seq
MIRT1993412	hsa-miR-2467-5p	CLIP-seq
MIRT1993413	hsa-miR-3188	CLIP-seq
MIRT1993414	hsa-miR-3975	CLIP-seq
MIRT1993417	hsa-miR-485-5p	CLIP-seq
MIRT2449501	hsa-miR-132	CLIP-seq
MIRT1548604	hsa-miR-144	CLIP-seq
MIRT2449502	hsa-miR-2054	CLIP-seq
MIRT2449503	hsa-miR-212	CLIP-seq
MIRT1548600	hsa-miR-1252	CLIP-seq
MIRT2531251	hsa-miR-1261	CLIP-seq
MIRT2531252	hsa-miR-1273d	CLIP-seq
MIRT2531253	hsa-miR-1278	CLIP-seq
MIRT990092	hsa-miR-1279	CLIP-seq
MIRT2428775	hsa-miR-1343	CLIP-seq
MIRT2531254	hsa-miR-197	CLIP-seq
MIRT1993412	hsa-miR-2467-5p	CLIP-seq
MIRT990098	hsa-miR-25	CLIP-seq
MIRT2428780	hsa-miR-3074-5p	CLIP-seq
MIRT2531255	hsa-miR-3176	CLIP-seq
MIRT1993413	hsa-miR-3188	CLIP-seq
MIRT990100	hsa-miR-32	CLIP-seq
MIRT2531256	hsa-miR-3200-3p	CLIP-seq
MIRT2531257	hsa-miR-3622a-3p	CLIP-seq
MIRT2531258	hsa-miR-3622b-3p	CLIP-seq
MIRT990102	hsa-miR-363	CLIP-seq
MIRT990104	hsa-miR-367	CLIP-seq
MIRT2531259	hsa-miR-3670	CLIP-seq
MIRT2531260	hsa-miR-369-5p	CLIP-seq
MIRT2531261	hsa-miR-3922-3p	CLIP-seq
MIRT1993414	hsa-miR-3975	CLIP-seq
MIRT2531262	hsa-miR-4265	CLIP-seq
MIRT2531263	hsa-miR-4270	CLIP-seq
MIRT2531264	hsa-miR-4296	CLIP-seq
MIRT2531265	hsa-miR-4299	CLIP-seq
MIRT2531266	hsa-miR-4300	CLIP-seq
MIRT2531267	hsa-miR-4322	CLIP-seq
MIRT2531268	hsa-miR-4417	CLIP-seq
MIRT2531269	hsa-miR-4431	CLIP-seq
MIRT2531270	hsa-miR-4441	CLIP-seq
MIRT2531271	hsa-miR-4496	CLIP-seq
MIRT2531272	hsa-miR-4504	CLIP-seq
MIRT2531273	hsa-miR-4522	CLIP-seq
MIRT2531274	hsa-miR-4640-5p	CLIP-seq
MIRT990109	hsa-miR-4642	CLIP-seq
MIRT2531275	hsa-miR-4659a-3p	CLIP-seq
MIRT2531276	hsa-miR-4659b-3p	CLIP-seq
MIRT990110	hsa-miR-4679	CLIP-seq
MIRT1993416	hsa-miR-4687-3p	CLIP-seq
MIRT2531277	hsa-miR-4701-5p	CLIP-seq
MIRT2531278	hsa-miR-4708-3p	CLIP-seq
MIRT2531279	hsa-miR-4726-5p	CLIP-seq
MIRT2531280	hsa-miR-4738-3p	CLIP-seq
MIRT1548616	hsa-miR-4789-5p	CLIP-seq
MIRT1993417	hsa-miR-485-5p	CLIP-seq
MIRT2531281	hsa-miR-501-3p	CLIP-seq
MIRT2531282	hsa-miR-502-3p	CLIP-seq
MIRT990116	hsa-miR-513a-3p	CLIP-seq
MIRT2531283	hsa-miR-542-3p	CLIP-seq
MIRT2531284	hsa-miR-581	CLIP-seq
MIRT2531285	hsa-miR-638	CLIP-seq
MIRT2531286	hsa-miR-660	CLIP-seq
MIRT2531287	hsa-miR-758	CLIP-seq
MIRT1548621	hsa-miR-9	CLIP-seq
MIRT2531288	hsa-miR-920	CLIP-seq
MIRT990120	hsa-miR-92a	CLIP-seq
MIRT990121	hsa-miR-92b	CLIP-seq
MIRT1548600	hsa-miR-1252	CLIP-seq
MIRT990092	hsa-miR-1279	CLIP-seq
MIRT2428775	hsa-miR-1343	CLIP-seq
MIRT1993412	hsa-miR-2467-5p	CLIP-seq
MIRT990098	hsa-miR-25	CLIP-seq
MIRT2428780	hsa-miR-3074-5p	CLIP-seq
MIRT2531255	hsa-miR-3176	CLIP-seq
MIRT1993413	hsa-miR-3188	CLIP-seq
MIRT990100	hsa-miR-32	CLIP-seq
MIRT2531256	hsa-miR-3200-3p	CLIP-seq
MIRT2531257	hsa-miR-3622a-3p	CLIP-seq
MIRT2531258	hsa-miR-3622b-3p	CLIP-seq
MIRT990102	hsa-miR-363	CLIP-seq
MIRT990104	hsa-miR-367	CLIP-seq
MIRT2531261	hsa-miR-3922-3p	CLIP-seq
MIRT1993414	hsa-miR-3975	CLIP-seq
MIRT2680835	hsa-miR-4252	CLIP-seq
MIRT2531262	hsa-miR-4265	CLIP-seq
MIRT2531264	hsa-miR-4296	CLIP-seq
MIRT2531265	hsa-miR-4299	CLIP-seq
MIRT2531267	hsa-miR-4322	CLIP-seq
MIRT2531268	hsa-miR-4417	CLIP-seq
MIRT2531274	hsa-miR-4640-5p	CLIP-seq
MIRT990109	hsa-miR-4642	CLIP-seq
MIRT990110	hsa-miR-4679	CLIP-seq
MIRT1993416	hsa-miR-4687-3p	CLIP-seq
MIRT2531277	hsa-miR-4701-5p	CLIP-seq
MIRT2680836	hsa-miR-4704-3p	CLIP-seq
MIRT2531279	hsa-miR-4726-5p	CLIP-seq
MIRT1993417	hsa-miR-485-5p	CLIP-seq
MIRT2531281	hsa-miR-501-3p	CLIP-seq
MIRT2531282	hsa-miR-502-3p	CLIP-seq
MIRT1548621	hsa-miR-9	CLIP-seq
MIRT990120	hsa-miR-92a	CLIP-seq
MIRT990121	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
PARP1	Unknown	23860323
SP1	Unknown	23860323

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	8188302
GO:0001527	Component	Microfibril	IDA	1860873, 3536967, 7534784, 8120105, 10424889, 12429738, 22355679
GO:0001527	Component	Microfibril	IEA
GO:0001656	Process	Metanephros development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0005178	Function	Integrin binding	IPI	12807887, 15062093, 17158881
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	27087445, 31230984
GO:0005179	Function	Hormone activity	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	IDA	3536967
GO:0005201	Function	Extracellular matrix structural constituent	RCA	20551380, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0005509	Function	Calcium ion binding	IDA	7691719, 15062093
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12429738, 15131124, 15165854, 15790312, 17293099, 18339631, 19349279, 19570982, 21402694, 22355679, 24039232, 25034023, 26601954, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IDA	11461921, 34411563
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005604	Component	Basement membrane	IDA	3536967
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IDA	3536967, 27087445
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006006	Process	Glucose metabolic process	IDA	27087445
GO:0007165	Process	Signal transduction	IEA
GO:0007507	Process	Heart development	IMP	15781745
GO:0008201	Function	Heparin binding	IDA	11461921
GO:0008201	Function	Heparin binding	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010737	Process	Protein kinase A signaling	IDA	27087445
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IC	8120105
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IEA
GO:0030324	Process	Lung development	IEA
GO:0031012	Component	Extracellular matrix	HDA	20551380
GO:0031012	Component	Extracellular matrix	HDA	23658023, 23979707, 25037231, 27559042, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	3536967
GO:0032100	Process	Positive regulation of appetite	ISS
GO:0033627	Process	Cell adhesion mediated by integrin	IDA	12807887, 17158881
GO:0034199	Process	Activation of protein kinase A activity	IDA	27087445
GO:0035582	Process	Sequestering of BMP in extracellular matrix	IEA
GO:0035582	Process	Sequestering of BMP in extracellular matrix	ISS
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	IEA
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	ISS
GO:0042593	Process	Glucose homeostasis	IBA
GO:0042593	Process	Glucose homeostasis	IDA	27087445
GO:0042802	Function	Identical protein binding	IPI	18448684, 24035709, 25034023
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEP	25406291
GO:0044877	Function	Protein-containing complex binding	IPI	15062093
GO:0045671	Process	Negative regulation of osteoclast differentiation	IDA	24039232
GO:0045671	Process	Negative regulation of osteoclast differentiation	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEP	25406291
GO:0048050	Process	Post-embryonic eye morphogenesis	IEP	25406291
GO:0048286	Process	Lung alveolus development	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:1990314	Process	Cellular response to insulin-like growth factor stimulus	IEA
GO:2001205	Process	Negative regulation of osteoclast development	IDA	24039232
GO:2001205	Process	Negative regulation of osteoclast development	IEA

Other IDs

• MIM: 134797
• HGNC: 3603
• e!Ensembl: ENSG00000166147

Protein

• UniProt ID: P35555
• Protein name: Fibrillin-1 [Cleaved into: Asprosin]
• Protein function: [Fibrillin-1]: Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, PubMed:1860873). Fibrillin-1-cont
• PDB: 1APJ, 1EMN, 1EMO, 1LMJ, 1UZJ, 1UZK, 1UZP, 1UZQ, 2M74, 2W86, 5MS9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF18193	Fibrillin_U_N	44 → 82	Fibrillin 1 unique N-terminal domain	Domain
  PF00683	TB	194 → 234	TB domain	Family
  PF07645	EGF_CA	246 → 286	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	288 → 328	Calcium-binding EGF domain	Domain
  PF00683	TB	344 → 392	TB domain	Family
  PF07645	EGF_CA	450 → 488	Calcium-binding EGF domain	Domain
  PF12662	cEGF	510 → 533	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	530 → 570	Calcium-binding EGF domain	Domain
  PF12662	cEGF	593 → 616	Complement Clr-like EGF-like	Domain
  PF00683	TB	669 → 714	TB domain	Family
  PF07645	EGF_CA	723 → 763	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	765 → 805	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	807 → 845	Calcium-binding EGF domain	Domain
  PF00683	TB	861 → 896	TB domain	Family
  PF07645	EGF_CA	910 → 950	Calcium-binding EGF domain	Domain
  PF00683	TB	966 → 1011	TB domain	Family
  PF07645	EGF_CA	1028 → 1068	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1070 → 1111	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1113 → 1153	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1155 → 1195	Calcium-binding EGF domain	Domain
  PF14670	FXa_inhibition	1201 → 1236		Domain
  PF07645	EGF_CA	1280 → 1320	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1322 → 1361	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1363 → 1402	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1404 → 1444	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1446 → 1485	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1487 → 1534	Calcium-binding EGF domain	Domain
  PF00683	TB	1548 → 1592	TB domain	Family
  PF07645	EGF_CA	1606 → 1646	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1648 → 1687	Calcium-binding EGF domain	Domain
  PF00683	TB	1705 → 1751	TB domain	Family
  PF07645	EGF_CA	1766 → 1806	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1808 → 1847	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1849 → 1889	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1891 → 1928	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1930 → 1971	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	1973 → 2011	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2013 → 2053	Calcium-binding EGF domain	Domain
  PF00683	TB	2069 → 2114	TB domain	Family
  PF07645	EGF_CA	2127 → 2164	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2166 → 2204	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2206 → 2245	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2247 → 2289	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2291 → 2331	Calcium-binding EGF domain	Domain
  PF00683	TB	2347 → 2393	TB domain	Family
  PF07645	EGF_CA	2402 → 2442	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2444 → 2483	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2485 → 2522	Calcium-binding EGF domain	Domain
  PF12662	cEGF	2547 → 2570	Complement Clr-like EGF-like	Domain
  PF07645	EGF_CA	2607 → 2646	Calcium-binding EGF domain	Domain
  PF07645	EGF_CA	2648 → 2686	Calcium-binding EGF domain	Domain

• Sequence:

  MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCG
  SRYNAYCCPGWKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCN
  IRCMNGGSCSDDHCLCQKGYIGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERD
  YRTGPCFTVISNQMCQGQLSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNIR
  TGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLNEVSQKCEDIDECSTIPGICE
  GGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLPQSITKMQCCC
  DAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFP
  PGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSYRCECNKGF
  QLDLRGECIDVDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRI
  CNNGRCINTDGSFHCVCNAGFHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKP
  GFQLASDGRYCKDINECETPGICMNGRCVNTDGSYRCECFPGLAVGLDGRVCVDTHMRST
  CYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCPAQNSAEYQALCSSGPGMTSA
  GSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECVLNSLLCDNGQ
  CRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDP
  TKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGY
  SRIKGTQCEDIDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFL
  RYEDEECTLPIAGRHRMDACCCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEIT
  NGKPFFKDINECKMIPSLCTHGKCRNTIGSFKCRCDSGFALDSEERNCTDIDECRISPDL
  CGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRDPLLCRGGVCHNTEGSYRCEC
  PPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTPDRLFCVDIDE
  CSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGE
  YRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGC
  TDINECEIGAHNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADC
  KNTMGSYRCLCKEGYTGDGFTCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSAD
  GKACEDIDECSLPNICVFGTCHNLPGLFRCECEIGYELDRSGGNCTDVNECLDPTTCISG
  NCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRPRGDNGDTACSNEIGVGVSKA
  SCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDECQELPGLCQGG
  KCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQ
  VNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPS
  TDEFATLCGSQRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYN
  DKLLVCEDIDECQNGPVCQRNAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNIC
  SHGQCIDTVGSFYCLCHTGFKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF
  ILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNEGYEVAPDGRTCVDINECLLE
  PRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCSNTEGSFKCLC
  PEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCP
  TEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILA
  GNECVDTDECSVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFR
  CVNTYGSYECKCPVGYVLREDRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGY
  QRRPDGEGCVDENECQTKPGICENGRCLNTRGSYTCECNDGFTASPNQDECLDNREGYCF
  TEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPFQGTVAFKKLCPHGRGFMTNG
  ADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQAPKPCNFICK
  NTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHT
  SCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHG
  CQNIIGGYRCSCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYE
  QFSGGCQDINECGSAQAPCSYGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPP
  VSGEMDDNSLSPEACYECKINGYPKRGRKRRSTNETDASNIEDQSETEANVSLASWDVEK
  TAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNEDGFFKINQKEGISYLHFTKK
  KPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLLH

• Sequence length: 2871

Pathways

KEGG:

TGF-beta signaling pathway
Cytoskeleton in muscle cells

Reactome:

Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres
Integrin cell surface interactions
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Post-translational protein phosphorylation

<

Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Acromicric Dysplasia	acromicric dysplasia	rs1064797059, rs1060501041, rs387906623, rs387906624, rs363806, rs1131692052, rs387906626, rs587776863, rs1555400049, rs387906622	N/A
congenital scoliosis	Congenital scoliosis	rs1597568822	N/A
Connective Tissue Disease	Connective tissue disorder	rs1064793914, rs794728188, rs137854464, rs1131691804, rs1555399144	N/A
Ectopia Lentis	ectopia lentis 1, isolated, autosomal dominant	rs363806, rs397515793, rs397514558, rs137854464, rs137854480	N/A
Geleophysic Dysplasia	geleophysic dysplasia 2, geleophysic dysplasia	rs387906623, rs387906624, rs387906625, rs1566902569, rs1131691804, rs387906622	N/A
Loeys-Dietz Syndrome	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, loeys-dietz syndrome	rs1566918075, rs193922239, rs1555395750, rs794728280, rs1555397424, rs1566894262, rs794728326, rs794728266, rs886039035, rs1555395762, rs727503054, rs137854478, rs1555399748, rs193922212, rs1555405043, rs397515867, rs794728225, rs112989722, rs1555400374, rs1566891655, rs727503058, rs193922183, rs775417975, rs1057518012, rs727503057, rs1555401687, rs794728190, rs397515854, rs1555400598, rs1555399165, rs193922215, rs1566903995, rs397515823, rs397515764, rs886038848, rs397515846, rs193922228, rs1555395260, rs794728188, rs1566914030, rs397515791, rs1057523654, rs199474693, rs1555398648, rs1566905978, rs140583, rs794728319, rs794728195, rs1555395826, rs730880097, rs193922205, rs1555398816, rs1064794282, rs1566909885, rs886039550, rs1555399974, rs1566893738, rs794728204, rs397515847, rs1555396418, rs1057518973, rs200309328, rs886038786, rs1445085747, rs1555399372, rs112202622, rs1064794130, rs1555398835, rs193922219, rs1555395661, rs1597581008, rs1555395658, rs137854476, rs397515756, rs1346043320, rs397515765, rs137854479, rs1597506811, rs1555405028, rs1555395972, rs1057523406, rs730880099, rs763449629, rs1352478541, rs1555396185, rs111401431, rs1566891846, rs1555399481, rs1566897420, rs1555397163, rs363811, rs397515848, rs112930491, rs794728283, rs1555395987, rs878853676, rs1566892735, rs794728228, rs1566905976, rs1555397201, rs1555398836, rs113001196, rs761857514, rs1555397173, rs193921256, rs2043241537, rs1156747241, rs1555394433, rs112645512, rs794728162, rs794728199, rs765942432, rs1555396417, rs1597537935, rs1555397707, rs794728172	N/A
Marfan Syndrome	neonatal marfan syndrome, marfan syndrome, Marfan syndrome, severe classic	rs137854481, rs727504347, rs1555396765, rs1597529841, rs397515768, rs886039158, rs397515853, rs886039038, rs397515798, rs137854465, rs1566891406, rs1131691311, rs1555399840, rs193922179, rs1566902526, rs1060501036, rs1555394556, rs397515825, rs1597531796, rs1555397024, rs1555393862, rs397515799, rs1060501027, rs1555399164, rs869025415, rs1555395767, rs1555404810, rs1057520617, rs1555398580, rs869025418, rs1260109901, rs111671429, rs1555401011, rs1555405537, rs1060501017, rs1555398642, rs1555398406, rs397515823, rs587782943, rs730880102, rs1555398144, rs397515778, rs1555398677, rs1246984265, rs397515867, rs1555395001, rs1555400609, rs886038797, rs1555398380, rs794728225, rs112989722, rs1566904011, rs1060501041, rs886038949, rs1597525871, rs398122934, rs1555400063, rs794728210, rs111588631, rs1555395980, rs193922204, rs137854457, rs1555394146, rs1555394776, rs397515845, rs371097218, rs368978109, rs1555397537, rs1555394218, rs1085307468, rs1555399484, rs398122833, rs1555396426, rs1597545836, rs193922227, rs1555398511, rs1555407423, rs1060501054, rs113249837, rs193922182, rs1597581001, rs140599, rs1555396844, rs730880098, rs1555393508, rs397515789, rs1555398994, rs1555395648, rs775417975, rs1555401679, rs1057517855, rs1555398513, rs587782947, rs794728172, rs1597569551, rs397515759, rs1555395742, rs778710767, rs137854482, rs1555397548, rs1156747241, rs727505006, rs1296209846, rs1597506547, rs397515769, rs1555393844, rs794728190, rs886038976, rs397515854, rs1555405044, rs1555397744, rs794728234, rs137854466, rs1555394398, rs1131691806, rs1555399940, rs1597581005, rs193922239, rs1566915277, rs1555394557, rs397515826, rs112660651, rs1555397160, rs1555393863, rs2043595650, rs397515801, rs1060501096, rs1555399165, rs869025424, rs1555395820, rs1555397424, rs1555398582, rs397515810, rs1555399214, rs1555396186, rs25404, rs1060501094, rs778867355, rs397515814, rs1555395206, rs730880101, rs1555398409, rs1597562812, rs397515779, rs112550005, rs1555398793, rs794728326, rs794728245, rs752010116, rs1555398394, rs1566906537, rs1555394450, rs1597526073, rs397515753, rs794728208, rs1555394628, rs886038848, rs113082854, rs794728319, rs267606796, rs1555394148, rs1555394777, rs397515846, rs1555398278, rs1480832655, rs1555397540, rs794728334, rs137854462, rs1555394220, rs112907302, rs1555399761, rs876657645, rs1555396428, rs1597563234, rs193922228, rs1555407429, rs1060501048, rs1555399257, rs1597516325, rs140627, rs730880097, rs1555393514, rs1597547226, rs397515790, rs1555398995, rs1555395653, rs1555398515, rs137854478, rs1555400062, rs363806, rs1597548716, rs397515762, rs397515811, rs1555397557, rs137854483, rs1555398173, rs794728233, rs1597509836, rs397515770, rs1555395013, rs113544411, rs1555400387, rs886038817, rs113393517, rs1555394399, rs1566891404, rs1131691317, rs886038869, rs1597593736, rs193922240, rs1555394559, rs397515827, rs193922193, rs1008275504, rs1555397174, rs1555393866, rs397515802, rs1060501038, rs869025423, rs794728237, rs1555398377, rs1555404820, rs1057521101, rs140597, rs869025426, rs1555396188, rs1555405043, rs1555398648, rs113905529, rs730880106, rs1555398510, rs397515781, rs1555398803, rs1555395263, rs1555398397, rs794728308, rs1566908956, rs1597569159, rs397515754, rs1057518881, rs1555394629, rs113080385, rs1555396789, rs1597577114, rs113693945, rs1555394149, rs1555394779, rs1555394238, rs1597520683, rs1555397542, rs137854463, rs1555394235, rs1131691479, rs1555399763, rs397515782, rs1555396435, rs1597563280, rs886041536, rs1060501089, rs397515821, rs1555399150, rs1555393525, rs397515791, rs1555398996, rs1555395659, rs1555398774, rs1555401687, rs1057518912, rs1555398521, rs1555396835, rs1555399825, rs1555400064, rs727504454, rs1597553721, rs25403, rs1555398622, rs137854484, rs1566900540, rs1555404803, rs1555400288, rs727505110, rs1555396853, rs1597529686, rs397515771, rs1555394196, rs1555395187, rs1555395663, rs1555399944, rs1445085747, rs1597623670, rs193922241, rs1060501100, rs1555394561, rs363807, rs193922194, rs1597567249, rs886038967, rs1555397176, rs111856492, rs397515803, rs1555399193, rs1555395843, rs193922205, rs1555405031, rs1555394445, rs137854458, rs1555394152, rs1064793636, rs1555399270, rs869025406, rs111929350, rs193922216, rs111764111, rs1060501065, rs1555397203, rs730880100, rs1555398520, rs1597563287, rs112202622, rs1555398811, rs794728166, rs1555395267, rs199474693, rs1555400612, rs1555398401, rs794728216, rs1555395658, rs137854474, rs1566909766, rs1555400274, rs1555399974, rs1555394581, rs1597569536, rs397515755, rs363810, rs1566891655, rs794728206, rs1555394630, rs1597633163, rs1566894783, rs1555394780, rs397515847, rs1597522390, rs1555397543, rs794728246, rs1555394245, rs1131691373, rs1555399775, rs878853686, rs1555396630, rs1597564359, rs193922230, rs1555404806, rs1060501039, rs1555399361, rs193922185, rs1057524757, rs1555400373, rs1555396858, rs1555393532, rs363808, rs397515792, rs1555399093, rs794728213, rs111239111, rs1555399368, rs1555401689, rs1057518973, rs794728205, rs1555400066, rs200309328, rs112728248, rs369058466, rs1555398624, rs397515812, rs137854485, rs1232880706, rs1555400371, rs730880356, rs1555396863, rs1566897404, rs1555395188, rs1555400406, rs1555398148, rs137854467, rs1555393827, rs1555399949, rs1597625734, rs193922246, rs1566897374, rs1555394570, rs397515828, rs1597569265, rs1555397193, rs113935744, rs1060501050, rs1555399195, rs869025414, rs1555395846, rs1555405039, rs794728262, rs1555394153, rs397515766, rs869025421, rs1555396198, rs193922219, rs1555394580, rs1555405658, rs1555393848, rs1555398659, rs1555398681, rs730880105, rs1555398524, rs1597571391, rs1555398826, rs794728325, rs587782944, rs1555400616, rs1555398404, rs137854476, rs1555394195, rs1555394633, rs1597563934, rs397515756, rs1555397655, rs1555394631, rs397515834, rs1555399094, rs1597519658, rs111978932, rs1597537858, rs397515765, rs1566913670, rs1555394783, rs1597522553, rs1555397545, rs1555394246, rs1566891454, rs1131691467, rs1555399802, rs1555396635, rs772108557, rs193922235, rs1555395826, rs1555398160, rs1555394402, rs1597506641, rs1555396990, rs794728321, rs1555393653, rs974604498, rs1060501042, rs869025405, rs727504315, rs1555401695, rs397515804, rs1555397014, rs137854479, rs1555394626, rs1555400267, rs1555405041, rs1060501069, rs1555398625, rs1555397704, rs1555393825, rs1555400372, rs727505269, rs1555397197, rs1597533713, rs1555395203, rs397515859, rs1555397216, rs1439533354, rs886038963, rs1555398152, rs140630, rs387906547, rs1566895262, rs1555399953, rs1597631662, rs397514558, rs397515844, rs397515829, rs1597652471, rs794728336, rs1555393882, rs2043526284, rs397515774, rs869025422, rs1555395849, rs193922206, rs1555397403, rs137854459, rs1064794282, rs1555399273, rs869025425, rs1555396199, rs1555405664, rs1555394151, rs1293095681, rs397515816, rs112375043, rs730880099, rs1555398667, rs1555399968, rs397515784, rs1555398833, rs1555401004, rs794728221, rs1566919599, rs1555399976, rs1555394900, rs1597545199, rs1555395756, rs1555394641, rs397515836, rs1555399378, rs1597593852, rs1597517935, rs397515848, rs1555396418, rs1597529748, rs1555397546, rs763091520, rs869025419, rs1057520728, rs1131691938, rs1555399804, rs878853676, rs1555396636, rs794728194, rs147195031, rs1566911709, rs1060501022, rs1555394407, rs140603, rs1597520781, rs1555396991, rs794728283, rs1555393657, rs1555399101, rs1555395745, rs1555394904, rs1555401697, rs1057519502, rs1555398527, rs397515805, rs1566904526, rs1555395256, rs1555400268, rs363811, rs1555398835, rs1555405045, rs1060501031, rs1555394567, rs727503058, rs1555397204, rs1597543486, rs397515773, rs1555399381, rs1555395205, rs397515861, rs746201757, rs886039036, rs1555398174, rs387906548, rs1566891645, rs363804, rs1555399954, rs113604459, rs1555399372, rs1566897420, rs1555394571, rs1555405056, rs193922197, rs1555397209, rs794728272, rs2042997306, rs1064794130, rs1555399202, rs869025413, rs1555395978, rs111401431, rs1555397419, rs137854460, rs1555394189, rs1064793559, rs1555399281, rs869025404, rs1555396201, rs193922220, rs774371494, rs1060501040, rs397515817, rs1566891797, rs1555399089, rs1555400052, rs1555395002, rs1555398974, rs794728165, rs1555395456, rs587782948, rs1555401005, rs886039550, rs1555398407, rs1566937712, rs1555399977, rs1555395189, rs1364210063, rs397515757, rs1555394644, rs113001196, rs1555399816, rs1597516501, rs1597540907, rs794728195, rs1555394901, rs1555397670, rs794728333, rs1555394390, rs1555399955, rs1597568968, rs1566913974, rs1555394412, rs193922187, rs1597593695, rs1555396993, rs1555393824, rs397515793, rs1060501059, rs1555399146, rs869025417, rs1555395747, rs1555401701, rs1057521100, rs1555398551, rs1555400278, rs1555405530, rs778966916, rs112547596, rs111231312, rs140648, rs730880107, rs1555397212, rs1597545257, rs794728176, rs397515863, rs1555400595, rs1555398176, rs794728231, rs1555393538, rs1597633183, rs1555394574, rs397515830, rs193922198, rs1555397210, rs794728160, rs1555393886, rs1555397195, rs1555399204, rs869025412, rs1555395981, rs1555397420, rs794728251, rs137854470, rs1085307921, rs869025420, rs1555396202, rs1597533707, rs193922223, rs1555405673, rs1060501051, rs987202268, rs397515818, rs1555396639, rs112645512, rs1555399482, rs1597583989, rs397515785, rs1555395475, rs146348130, rs886041482, rs1555398413, rs763449629, rs1566915335, rs1555400049, rs727504411, rs1555395261, rs1597552583, rs1346043320, rs1555394647, rs1597552388, rs1555394906, rs1206813753, rs886038877, rs1555397692, rs137854464, rs1555394391, rs1597574236, rs1566894226, rs1060501024, rs1555394435, rs1555399764, rs193922188, rs1597529829, rs1555393831, rs397515794, rs1555397743, rs1555399160, rs112642323, rs1555395753, rs1555404799, rs1060501075, rs1555397016, rs1555395257, rs1555395984, rs193922207, rs794728292, rs1060501043, rs1555398627, rs1555396998, rs730880104, rs1555397713, rs1597545345, rs363815, rs397515864, rs1555398989, rs1555400603, rs1555398179, rs137854469, rs1566895225, rs1555397738, rs1555399959, rs1555393565, rs1597633219, rs1555394579, rs397515831, rs1597516347, rs794728271, rs1555393889, rs886039054, rs112118237, rs1555399206, rs1566913982, rs886038940, rs1555397421, rs137854471, rs1555394197, rs1555399371, rs869025403, rs1555396205, rs1597537815, rs193922224, rs1555398672, rs397515819, rs1555396757, rs397515786, rs1555398981, rs1555395482, rs672601352, rs1555401667, rs1555398501, rs765387131, rs140593, rs1052480459, rs1597520619, rs113812345, rs1555394756, rs1555396427, rs794728168, rs727504410, rs397515767, rs1555394925, rs397515851, rs1555397718, rs537570299, rs886038795, rs1597574308, rs193922236, rs1566895223, rs1060501086, rs1555394436, rs397515824, rs1597520625, rs769588424, rs112196241, rs397515797, rs1060501021, rs1555399162, rs1555395757, rs1555395987, rs1555404800, rs1057521102, rs1555398566, rs137854480, rs869025411, rs1555395989, rs113871094, rs1555405533, rs1555397663, rs1555398633, rs1555400379, rs730880103, rs1555397736, rs397515775, rs113422242, rs397515865, rs1555399149, rs1555400604, rs1555398282, rs794728228, rs137854473, rs1566896114, rs1555399144, rs1555399962, rs1404133653, rs1597518951, rs1555399821, rs1555394582, rs397515833, rs193922199, rs1555397214, rs1555394138, rs1555397213, rs1064793980, rs201778577, rs397515840, rs1555395645, rs1555393859, rs76702162, rs267606797, rs1555394206, rs1085308004, rs1555399385, rs1555396213, rs1555396419, rs193922225, rs1555397404, rs1555407399, rs397515820, rs112289537, rs1597512576, rs1555397720, rs1555396769, rs1555401002, rs363852, rs397515788, rs778900586, rs1555395638, rs727504651, rs1555395229, rs1555401671, rs1555398508, rs1555396429, rs1555395819, rs1555398836, rs1555395480, rs1597540854, rs1566922396, rs886051245, rs1555400279, rs363821, rs1597591643, rs794728193, rs794728253, rs397515852, rs1555399271, rs1555397723, rs761857514, rs1555394397, rs1555399837, rs187553035, rs1597577975, rs1566897376, rs1060501058, rs1555394441, rs113086760, rs193921256, rs1597579923, rs1555397022, rs794728280, rs1555393847, rs869025416, rs1555395766, rs200295020, rs1555398572, rs397515808, rs1566906506, rs1555395990, rs1555405536, rs1555398637, rs267606798, rs1566894230, rs1555394928, rs1555400385, rs1555398139, rs1597548672, rs397515776, rs1555398673, rs397515866, rs1555401670, rs1555400606, rs1555398287, rs1131692050, rs1566898399, rs1555399963, rs1555394781, rs1555399836, rs201058219, rs534811966, rs111687884, rs1555393510, rs193922203, rs1060501076, rs794728270, rs137854456, rs1555394144, rs2042873946, rs1064793118, rs1555399210, rs1597513708, rs1555397536, rs794728335, rs137854461, rs1555394212, rs1555399477, rs1555396424, rs1597545309, rs193922226, rs1555407414, rs1060501013, rs363853, rs193922181, rs1597523873, rs1555396838, rs730880108, rs794728323, rs1555398988, rs794728162, rs1555395641, rs727503054, rs1555397671, rs1555401676, rs1555398512, rs1566891675, rs113543334, rs727503057, rs1555395670, rs1597591602, rs397515758, rs1566891706, rs794728199, rs1555394775	N/A
mass syndrome	MASS syndrome	rs1566903931, rs1131692049, rs1566911709	N/A
Progeroid and marfanoid aspect-lipodystrophy syndrome	progeroid and marfanoid aspect-lipodystrophy syndrome	rs1555399144, rs111687884, rs1566918075, rs794728195, rs1555398170, rs398122831, rs398122832, rs876657410, rs1566888718, rs398122833	N/A
Stiff Skin Syndrome	stiff skin syndrome	rs363806, rs267606799, rs794728204, rs267606800, rs267606801, rs267606798	N/A
Thoracic Aortic Aneurysm	Isolated thoracic aortic aneurysm	rs113695103, rs1555395670, rs794728199, rs137854466, rs1555394581, rs112836174, rs140630, rs113905529, rs1555399368, rs794728205, rs1555395191, rs397515812, rs363811, rs147195031, rs1057523406, rs113001196, rs1060501017, rs794728165, rs1555397421, rs61730051, rs886038940, rs363815, rs1060501036	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs1555398627, rs1555397548, rs1555400279, rs1555393844, rs794728190, rs1555399271, rs761857514, rs1555394397, rs886038870, rs1555400285, rs193921256, rs2043594915, rs397515808, rs778710767, rs1555399210, rs112550005, rs1304643689, rs363810, rs1555398144, rs886038790, rs1060501076, rs2042873946, rs1064796636, rs794728335, rs137854461, rs1555399205, rs794728162, rs1555396760, rs1566892872, rs727503057, rs1566891808, rs1566919637, rs886038984, rs886038869, rs1555401686, rs1597531796, rs794728280, rs1555404810, rs1057521101, rs869025418, rs372404949, rs387906623, rs397515823, rs886039492, rs1555395461, rs397515764, rs111687884, rs1555395980, rs794728305, rs886039035, rs113249837, rs140599, rs727503054, rs1555401679, rs1555396835, rs1566898120, rs587782947, rs1555396638, rs1245476075, rs1566900540, rs1156747241, rs727505006, rs1555393871, rs794728234, rs1555398283, rs1566891654, rs1555401699, rs886038949, rs794728337, rs2043746138, rs193922204, rs193922188, rs25404, rs1060501035, rs1555398680, rs1597562812, rs1555394566, rs794728166, rs397515867, rs752010116, rs140583, rs1555395652, rs112989722, rs1060501041, rs1566891655, rs794728208, rs794728319, rs267606796, rs794728322, rs886039196, rs794728334, rs1555399257, rs193922183, rs1597516325, rs140627, rs730880097, rs794728193, rs112660651, rs137854478, rs1566900492, rs1555398830, rs397515811, rs1555397557, rs1555393880, rs397515854, rs1555400387, rs886038972, rs137854466, rs1555394399, rs1131691766, rs886038975, rs363852, rs112118237, rs2043846274, rs1060501038, rs869025414, rs113905529, rs1555398681, rs112836174, rs113080385, rs1555396789, rs886039167, rs113693945, rs1555399166, rs1555394238, rs886038802, rs137854463, rs397515821, rs794728288, rs1555397000, rs1566903914, rs1555393875, rs25403, rs1555397646, rs794728192, rs1555394146, rs1555395663, rs886039034, rs1566914030, rs886038786, rs1445085747, rs1555404819, rs112202622, rs886038967, rs794728336, rs2044515247, rs137854458, rs1555397203, rs1555394781, rs1555395267, rs794728216, rs1555395658, rs886038838, rs1555399387, rs794728195, rs886038956, rs763091520, rs878853686, rs1555399361, rs193922185, rs1555400373, rs397515793, rs111239111, rs1566904526, rs397515812, rs137854485, rs1566938153, rs1555394149, rs794728188, rs1566897374, rs1555405039, rs794728262, rs1555398828, rs1555394927, rs794728325, rs886039550, rs1555398404, rs1555394195, rs794728204, rs886038979, rs1555400378, rs1566890005, rs1555394783, rs886038996, rs1555395826, rs1555399388, rs1555405031, rs2043116624, rs1060501055, rs864622754, rs1555397014, rs1555398625, rs1555397704, rs1555394196, rs1555397652, rs140630, rs886038955, rs397515829, rs1597512600, rs886038976, rs886039120, rs794728253, rs1555394151, rs397515784, rs1555395840, rs137854476, rs1555393516, rs1346043320, rs363806, rs1555401687, rs397515848, rs1555396418, rs886038877, rs878853689, rs1060501092, rs1555399764, rs794728283, rs1555394904, rs397515805, rs1555397016, rs137854479, rs1555397419, rs1555395256, rs1555398835, rs1555395486, rs1555394396, rs886039036, rs1566891701, rs363804, rs886038930, rs397514558, rs1555405056, rs1597516347, rs886039047, rs1064794130, rs886038970, rs1555394189, rs112375043, rs1555395002, rs794728165, rs587782948, rs765387131, rs137854477, rs113603747, rs397515757, rs1555393856, rs794728306, rs1555399816, rs1555400278, rs397515766, rs1555393539, rs1352478541, rs1566894230, rs878853682, rs147195031, rs1555396993, rs1555395745, rs1057523796, rs111231312, rs1555398143, rs1555400372, rs397515774, rs1555394400, rs886039092, rs1555399481, rs1555405534, rs193922198, rs886038957, rs1555393647, rs76702162, rs1085307921, rs1060501051, rs1057523406, rs1555397720, rs112645512, rs1555395206, rs1555397008, rs886044547, rs763449629, rs1566891668, rs1555394142, rs794728203, rs1555395820, rs1555393823, rs794728194, rs1206813753, rs886039054, rs765692335, rs1060501017, rs1555399835, rs794728281, rs112642323, rs1555397148, rs1566906506, rs1555398272, rs1566892735, rs1555396998, rs363815, rs886039072, rs886039158, rs1566905976, rs1555407416, rs794728241, rs794728270, rs1555399143, rs1566891675, rs1555400049, rs140593, rs113812345, rs1555395209, rs1555396427, rs397515767, rs1555393837, rs1566913670, rs886039038, rs137854464, rs193922236, rs1555399839, rs1060501021, rs1555399162, rs1555397154, rs137854480, rs869025411, rs113871094, rs1555401011, rs1555399379, rs1555398406, rs730880102, rs1555394433, rs113422242, rs886039066, rs794728228, rs794728247, rs886038894, rs886038959, rs1555395645, rs886038940, rs1085308004, rs1555399147, rs397515788, rs1555396429, rs1555395742	N/A
Weill-Marchesani Syndrome	Weill-Marchesani syndrome 2, dominant, weill-marchesani syndrome	rs267606798, rs363806, rs1555396783, rs727503056, rs2043337073	N/A
Achondroplasia	achondroplasia	rs1597583989	N/A
Brugada Syndrome	brugada syndrome 1	rs886039072	N/A
Congenital diaphragmatic hernia	congenital diaphragmatic hernia	rs864309713	N/A
Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome	rs1555400372	N/A
Metaphyseal Chondrodysplasia	metaphyseal chondrodysplasia	rs1131691804	N/A
Myopathy	myopathy	rs1597512576	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Aortic Aneurysm	aortic aneurysm, familial thoracic 6, Aortic aneurysm	N/A	N/A	ClinVar, GWAS
aortic dissection	Aortic dissection	N/A	N/A	ClinVar
Breast cancer	Breast cancer	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
craniosynostosis syndrome	Craniosynostosis syndrome	N/A	N/A	ClinVar
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 1	N/A	N/A	ClinVar
Hypertension	ICD10 127.0 pulmonary arterial hypertension	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Achondroplasia	Associate	31185693
Acromelic frontonasal dysplasia	Associate	23897642, 25979247
Acromicric dysplasia	Associate	21683322, 23133647, 23897642, 27245183, 33082559, 38458756
Acute Aortic Syndrome	Associate	26621581
Acute Disease	Associate	26621581
Adenoma	Associate	21777459
Adrenal Hyperplasia Congenital	Associate	26075496
Adrenal Insufficiency	Associate	21135753
Alcohol Related Disorders	Associate	30838813
Alzheimer Disease	Associate	33083483
Aneurysm	Associate	20937124, 29357934, 31538843, 34244757, 8760977
Aneurysm Ascending Aorta	Associate	19353630, 20709720, 7762551
Aortic Aneurysm	Associate	26333736, 30385411, 31830381, 40243722
Aortic Aneurysm Abdominal	Associate	30485715, 31473210, 36670346, 37684520
Aortic Aneurysm Familial Thoracic 1	Associate	11826022, 19336958, 20937124, 23897642, 26621581, 36421783
Aortic Aneurysm Thoracic	Associate	20937124, 24743685, 26017485, 26621581, 27418160, 32961817, 34265237, 34469433, 37894814
Aortic Diseases	Associate	19941982, 20082464, 20354336, 27611364, 30905418, 31185693
Aortic Dissection	Associate	19293843, 19336958, 20082464, 20648054, 20709720, 20937124, 24743685, 25101912, 25370960, 26272055, 26621581, 27569546, 28855619, 28901506, 29543232, 30087447, 30101859, 30739908, 31830381, 32130918, 33083483, 34469433, 34498425, 34921932, 35078481, 35307021, 35972748, 36517271, 37743617, 38234087
Aortic Dissection	Stimulate	40243722
Aortic Root Aneurysm	Associate	21135753, 23897642, 24008997, 24564502, 30905418, 32303188, 38234087, 40055687
Aortic Valve Insufficiency	Associate	24564502, 33578525
Arachnodactyly	Associate	21683322
Arrhythmias Cardiac	Associate	24349050, 35427808
Atrial Fibrillation	Associate	35427808
Atrial Flutter	Associate	35427808
Axenfeld Rieger syndrome	Associate	29845260
Axial osteomalacia	Associate	40025527
Bicuspid Aortic Valve Disease	Associate	24564502, 26129868, 27634926, 30255099
Bicuspid Aortic Valve Disease	Inhibit	29433109
Brachydactyly	Associate	23897642
Brain Neoplasms	Associate	31888563
Breast Neoplasms	Associate	31125336, 35650297
Burns	Associate	25844669
CADASIL	Associate	25190493
Carcinoma Hepatocellular	Associate	35650297
Carcinoma Pancreatic Ductal	Associate	31731384, 32934754
Carcinoma Papillary	Associate	16528372
Carcinoma Renal Cell	Associate	29215599
Cardiomyopathy Dilated	Associate	18310266, 18805282, 20709720, 24008997, 30003093, 31950671, 32679894, 38234087, 40243722
Cardiovascular Abnormalities	Associate	23133647, 25979247, 34298435
Cardiovascular Diseases	Associate	16103519, 19941982, 20709720, 26129868, 27724990, 33731877, 34298435, 36307213, 37107549
Carotid Artery Injuries	Associate	32374345
Cataract	Associate	37477931
Cerebrovascular Disorders	Associate	32374345
Chest Pain	Associate	35307021
Chromosome Aberrations	Associate	16061422
Chronic Disease	Stimulate	34080027
Cognition Disorders	Associate	35427808
Collagenopathy type 2 alpha 1	Associate	35296718
Colorectal Neoplasms	Associate	21777459, 24362313, 25802477, 28901407, 34957998, 35202405
Congenital Abnormalities	Associate	18084245
Congenital contractural arachnodactyly	Associate	12399449, 17106180, 18448684, 31506931
Connective Tissue Diseases	Associate	16061422, 26684006, 30675029, 31527767, 33414558, 37108724
Contracture	Associate	23897642
Corneal Diseases	Associate	16971892
Corneal Dystrophy Band Shaped	Associate	11371495
Corneal Opacity	Associate	33087052
Coronary Artery Disease	Associate	32374345
Coronary Artery Dissection Spontaneous	Associate	32374345, 35092149
Coronary Disease	Associate	36915073
Death	Associate	21135753, 35307021, 36307213
Death Sudden Cardiac	Associate	24349050
Descending Thoracic Aortic Aneurysm	Associate	20082464
Diabetes Complications	Associate	33200202
Diabetes Mellitus	Associate	36915073
Diabetes Mellitus Type 1	Associate	12068374
Diabetes Mellitus Type 2	Associate	32379818, 36915073
Diabetes Mellitus Type 2	Stimulate	36613673
Diaphragmatic Eventration	Associate	27914124
Disease	Associate	39219382
Dissection Ascending Aorta	Associate	20709720, 20937124, 7762551
Dissection Thoracic Aorta	Associate	20082464, 24743685, 27569546, 31211624, 32199657, 33648514, 37743617
Dwarfism stiff joint ocular abnormalities	Associate	25979247
Ectopia Lentis	Associate	10229672, 11826022, 12446365, 17701892, 18615205, 19353630, 19390640, 22219643, 23897642, 24008997, 24940037, 25053872, 30754709, 31527767, 32404357, 32989268, 33542371, 33576469, 33731877, 34281902, 34628919, 35058154, 35741789, 36670079, 37107549, 37891508, 38190127, 38234087
Ehlers Danlos syndrome type 3	Associate	12068374, 24008997
Ehlers Danlos syndrome type 6	Associate	35526034
Emphysema	Associate	18084245
Emphysematous Cholecystitis	Associate	18084245
Endometrial Neoplasms	Associate	39255351
Exfoliation Syndrome	Associate	34964803
Exotropia	Associate	25729264
Familial ectopia lentis	Associate	20082464, 33576469
Familial Hypophosphatemic Rickets	Associate	26040324
Familial Primary Pulmonary Hypertension	Associate	25644172, 31826007, 35427808
Fetal Diseases	Associate	37875969
Fibrosis	Associate	34614499, 39596376
Flatfoot	Associate	24008997
Gallbladder Neoplasms	Associate	27623942
Ganglion Cysts	Associate	39273357
Gaucher Disease	Associate	21683322
Genetic Diseases Inborn	Associate	12399449, 15161917, 27611364, 34087733
Glaucoma	Associate	16971892, 18615205, 22876116, 32404357
Glaucoma Open Angle	Associate	23444230
Growth Disorders	Associate	21683322, 23133647, 23897642, 25979247, 27245183, 32499652, 35250876, 37605180
Hallux Valgus	Associate	32404357
Hamartoma Syndrome Multiple	Associate	25901601
Heart Defects Congenital	Associate	26040324, 28336264
Heart Diseases	Associate	24349050, 27245183, 35078481, 35427808
Heart Failure	Associate	28823387
Heart Valve Diseases	Associate	27611364
Hemophilia B	Associate	9525872
Hepatomegaly	Associate	27245183
Hernia	Associate	32679894
Hernias Diaphragmatic Congenital	Associate	25736269
Homocystinuria	Associate	16096271, 19889633
Hydronephrosis	Associate	27914124
Hyperphagia	Stimulate	36812308
Hypersensitivity Immediate	Associate	19293843, 19353630
Hypertension	Associate	20082464, 22545955, 24743685, 32303188, 36915073
Hypertension Pulmonary	Associate	16277674
Hyperthyroidism	Associate	37876543
Hypoxia	Stimulate	29215599
Inflammation	Stimulate	36613673
Inflammation	Associate	36915073
Intracranial Hypertension	Associate	32303188
Joint Diseases	Associate	23133647
Joint Instability	Associate	26333736
Kidney Neoplasms	Associate	29215599
Lens Subluxation	Associate	12068374, 16971892, 18615205, 31830381
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	38283355
Liver Cirrhosis	Associate	35650297
Liver Diseases	Associate	18310266, 33200202, 35427808, 37108724
Loeys Dietz Syndrome	Associate	30101859, 33059708, 35092149
Lujan Fryns syndrome	Associate	12446365, 19390640, 23506379, 36421783
Lung Diseases	Associate	31826007
Lung Neoplasms	Associate	35650297
Lymphatic Metastasis	Stimulate	31888563
Lymphedema	Associate	36670079
Lymphoma	Associate	34166375
Lymphoma Non Hodgkin	Associate	16802364
Macular Edema	Associate	37981180
Marden Walker syndrome	Associate	12269520
Marfan Syndrome	Associate	10090884, 10486319, 10766875, 11278305, 11453977, 11826022, 12068374, 12130535, 12399449, 12446365, 12511552, 12525539, 12700307, 15161917, 15235604, 16061422, 16096271, 1613769, 16756980, 16905551, 16971892, 17027361, 17106180, 17224687, 17242066, 17492313, 17652900, 17701892, 17850668, 18084245, 18310266, 18448684, 18767143, 19002209, 19117906, 19293838, 19293843, 19336958, 19353630, 19390640, 19618372, 19802897, 19889633, 19941982, 19996017, 20082464, 20179738, 20354336, 20648054, 20886638, 20937124, 21063442, 21135753, 21194821, 21561146, 21564093, 21683322, 21726527, 21784848, 21789464, 21936929, 21976953, 22178754, 22219643, 22262941, 22300218, 22461464, 22545955, 22876116, 22887731, 23133647, 23428920, 23444230, 23506379, 23592911, 23897642, 24008997, 24289736, 24349050, 24484584, 24499874, 24564502, 24928929, 24940037, 25101912, 25113270, 25326635, 25370960, 25491897, 25656438, 25729264, 25736269, 25901601, 25966184, 25979247, 25986263, 26040324, 26129868, 26333736, 26339165, 26503076, 26621581, 26684006, 26987927, 27175573, 27582083, 27724990, 27739187, 27906200, 27914124, 28539832, 28650953, 28847661, 28901506, 28925368, 29198452, 29210860, 29357934, 29433109, 29768367, 29845260, 30003093, 30087447, 30101859, 30166242, 30255099, 30286810, 30385411, 30485715, 30754709, 30838813, 30870686, 30905418, 31185693, 31227806, 31315432, 31506931, 31774634, 31830381, 31950671, 32130918, 32188418, 32242911, 32431097, 32443863, 32562828, 32679894, 32706399, 32783137, 32891455, 32961817, 32967946, 32989268, 33028885, 33033378, 33059708, 33087052, 33200202, 33226994, 33230159, 33407909, 33414558, 33436942, 33450697, 33495528, 33542371, 33578525, 33731877, 33735269, 33801742, 34062330, 34087733, 34140103, 34174776, 34232254, 34298435, 34469433, 34592602, 34628919, 34757469, 34828442, 34895303, 34916231, 34946863, 35055593, 35058154, 35082968, 35231796, 35346302, 35420547, 35427808, 35440892, 35730482, 35741789, 35831148, 35972748, 36307213, 36380655, 36411030, 36421783, 36543362, 36670079, 36708686, 36724552, 36801568, 36966180, 36972239, 37107549, 37108724, 37245000, 37264881, 37445606, 37477931, 37684520, 37743617, 37840311, 37891508, 37894814, 38234087, 38458756, 39219382, 39273142, 39456956, 39511342, 39515109, 39596376, 39741318, 40055687, 40065510, 40102521, 40107616, 40138710, 40240926, 40243722, 40533124, 7611299, 7738200, 7762551, 7896820, 7915876, 7929395, 7945217, 7977366, 8040255, 8132720, 8406497, 8594563, 8653794, 8743989, 8863159, 8880577, 9362480, 9399842, 9525872, 9746367, 9837823
MASS syndrome	Associate	20082464, 35296718
Metabolic Diseases	Stimulate	36613673
Microspherophakia	Associate	32404357, 34281902, 40025527
Mitral Valve Insufficiency	Associate	19996017, 20709720, 29845260, 33578525, 39273357
Mitral Valve Prolapse	Associate	20709720, 34628919, 9837823
Mucopolysaccharidosis I	Stimulate	32880920
Muscle Weakness	Associate	12700307, 37894814, 7762551
Muscular Diseases	Associate	12700307, 25656438
Muscular Dystrophy Duchenne	Associate	28027854
Musculoskeletal Abnormalities	Associate	21784848
Musculoskeletal Diseases	Associate	25656438
Myopia	Associate	21527992, 29346494, 32679894, 38243264
Necrosis	Associate	30905418
Neoplasms	Associate	16207477, 16528372, 24362313, 32934754, 34957998, 40076915
Neoplasms Germ Cell and Embryonal	Associate	27487789
Neoplastic Syndromes Hereditary	Associate	31185693, 34958866
Nonsyndromic Deafness	Associate	29346494
Obesity	Associate	35606786, 36812308
Obesity	Stimulate	36613673
Ophthalmoplegia	Associate	26471116
Osteoarthritis	Associate	35606786
Osteoporosis	Associate	36882843, 40153558
Osteoporotic Fractures	Associate	40153558
Osteosarcoma	Associate	35340229
Osteosclerosis	Associate	36416374
Ovarian Neoplasms	Associate	19692420, 23555212, 33563317, 35650297, 36119108
Pectus Carinatum	Associate	24008997, 37891508
Pneumothorax	Associate	27229674
Polycystic Ovary Syndrome	Associate	19692420
Polycythemia Vera	Associate	35427808, 39511342
Pontocerebellar Hypoplasia Type 1	Associate	28027854
Pressure Ulcer	Associate	32303188
Primary Myelofibrosis	Associate	36416374
Prostatic Neoplasms	Associate	35650297
Prostatitis	Associate	16207477
Pulmonary Arterial Hypertension	Associate	31826007
Radiculopathy	Associate	36543362
Renal cell carcinoma 1	Associate	16971892
Renal Insufficiency	Associate	36307213
Retinal Detachment	Associate	31527767
Retinal Vein Occlusion	Associate	36820679
Scleroderma Systemic	Associate	11083269, 13130478
Scoliosis	Associate	24008997, 24833718, 26333736, 31827250, 33731877, 34916231, 37891508
Seminoma	Stimulate	27487789
Shprintzen Golberg craniosynostosis	Associate	21063442, 24564502, 28027854
Sinusitis	Associate	28240702
Skin Diseases	Associate	23133647, 34628919
Skin Manifestations	Associate	17701892
Stenosis Pulmonary Artery	Associate	32679894
Stiff Skin Syndrome	Associate	25979247, 26471116, 32303188, 36670346
Stomach Neoplasms	Associate	28582847, 32908877, 35650297
Striae Distensae	Associate	24008997
Sveinsson Chorioretinal Atrophy	Associate	34244757
Symphalangism C. S. Lewis Type	Associate	16103519, 32303188
Synovitis	Associate	25979247
Tachycardia	Associate	33087052
Tachycardia Ventricular	Associate	24349050
Testicular Neoplasms	Associate	35972748
Tetralogy of Fallot	Associate	18805282
Thoracic Diseases	Associate	23897642, 30905418, 37042257, 39511342
Thyroid Neoplasms	Associate	16528372
Tooth Mobility	Associate	23897642
Tricuspid Valve Insufficiency	Associate	35831148
Tricuspid Valve Prolapse	Associate	32679894
Triple Negative Breast Neoplasms	Associate	39273393
Triple X syndrome	Associate	37245000
Urinary Bladder Neoplasms	Associate	30689556, 33604385, 34112144, 36474424
Varicose Veins	Associate	24940037
Ventricular Dysfunction Left	Associate	25901601, 34946863
Ventricular Fibrillation	Associate	33087052, 35427808
Weill Marchesani Syndrome	Associate	12525539, 18448684, 19836009, 21402694, 23133647, 23897642, 24940034, 25053872, 27779234
Zlotogora Ogur syndrome	Associate	27914124