COL4A5 (collagen type IV alpha 5 chain)

Gene

• Entrez ID: 1287
• Gene name: Collagen type IV alpha 5 chain
• Gene symbol: COL4A5
• Synonyms: ASLN, ATS, ATS1, CA54
• Chromosome: X
• Chromosome location: Xq22.3
• Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5973838	C>A,G,T	Pathogenic	Intron variant
rs104886042	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886043	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886044	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886045	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886046	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886047	T>C,G	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs104886048	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886051	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886052	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886053	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886054	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886055	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886056	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886057	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886058	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886059	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886060	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886061	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886062	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886063	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886065	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886066	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886067	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886068	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886069	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886070	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886071	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs104886072	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886073	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886074	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886075	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886076	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886077	G>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886078	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886079	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886080	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886081	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs104886082	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886083	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs104886084	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886085	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886086	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886088	G>A,C,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs104886091	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886092	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886093	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886094	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs104886095	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886096	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886097	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886098	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886099	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886100	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886101	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886102	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886103	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886104	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886105	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886107	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886108	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886109	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886110	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886111	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886112	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886113	C>-,CC	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886114	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886115	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886116	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886117	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886118	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886119	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886120	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886121	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886122	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886123	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886124	G>-	Pathogenic	Splice donor variant
rs104886125	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886126	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886127	G>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs104886128	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886129	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886130	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886131	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886132	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886133	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886134	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886135	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886136	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886137	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886138	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886139	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886140	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886141	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886142	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886143	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886144	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886145	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886146	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886147	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886150	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886151	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886152	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886153	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886156	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886157	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886158	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886159	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886160	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886161	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886162	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs104886163	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886164	C>G,T	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs104886165	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886166	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886167	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886168	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886169	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886171	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886172	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886173	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886174	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886175	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886176	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104886177	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886178	T>-	Pathogenic	Splice donor variant
rs104886179	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886180	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886181	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs104886182	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886183	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886184	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886185	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886186	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886187	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886188	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886189	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs104886190	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886191	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886193	A>G	Pathogenic	Coding sequence variant, missense variant
rs104886194	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886195	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886196	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886197	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886198	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886199	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886200	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886201	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886202	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886204	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886206	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886207	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886208	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886209	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886210	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886211	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886212	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886213	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886214	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886215	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886216	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886217	G>T	Pathogenic	Coding sequence variant, stop gained
rs104886218	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886219	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886221	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs104886222	C>G	Pathogenic	Coding sequence variant, stop gained
rs104886223	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886224	G>T	Pathogenic	Coding sequence variant, missense variant
rs104886225	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs104886226	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886227	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886228	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886229	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886231	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886232	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886233	A>T	Pathogenic	Coding sequence variant, stop gained
rs104886234	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886235	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs104886236	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886237	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886238	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886239	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886240	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886241	C>T	Pathogenic	Coding sequence variant, stop gained
rs104886242	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886244	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886245	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886246	G>C	Pathogenic	Coding sequence variant, missense variant
rs104886247	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886248	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886249	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886250	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886251	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs104886252	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886253	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886254	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs104886255	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs104886256	G>-	Pathogenic	Coding sequence variant, splice donor variant
rs104886257	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886258	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886259	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886260	A>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, downstream transcript variant
rs104886261	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886262	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886263	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886264	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886265	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, downstream transcript variant
rs104886266	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs104886267	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant
rs104886268	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886269	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886272	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886273	G>C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886274	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886275	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886276	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886277	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886279	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886280	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886281	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886282	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886283	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886284	C>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886286	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886287	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886288	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886289	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886290	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886291	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886292	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886293	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs104886294	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886296	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886297	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886298	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886299	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886300	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886301	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886302	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886303	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886304	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886305	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886306	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886307	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886308	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886310	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886311	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886312	G>A	Pathogenic	Splice donor variant
rs104886313	G>A	Pathogenic	Splice donor variant
rs104886314	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs104886315	G>A,T	Pathogenic, uncertain-significance	Intron variant
rs104886316	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886317	G>A	Pathogenic	Splice donor variant
rs104886318	->G	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886319	A>G	Pathogenic	Splice acceptor variant
rs104886320	AT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886321	CCCCCCAGG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, inframe deletion
rs104886323	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886324	T>G	Pathogenic	Splice donor variant
rs104886325	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886326	->GGGG	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886327	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886328	->C	Pathogenic	Intron variant
rs104886329	G>A	Pathogenic	Splice acceptor variant
rs104886331	G>A	Pathogenic	Splice donor variant
rs104886332	G>T	Pathogenic	Splice acceptor variant
rs104886333	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886337	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs104886338	G>A,T	Pathogenic	Splice acceptor variant
rs104886339	G>A	Pathogenic	Splice donor variant
rs104886340	G>T	Pathogenic	Splice donor variant
rs104886341	A>C,G	Pathogenic	Intron variant
rs104886342	->CAACCAGGCTTGCCAGGGATACCTGGTAGCAAAGGAGAACCAGGTATCCCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs104886343	A>C	Pathogenic	Intron variant
rs104886344	A>G	Pathogenic	Splice acceptor variant
rs104886345	C>G	Pathogenic	Intron variant
rs104886346	AAGGCCCTCCTGGGCCACCCG>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886347	T>G	Pathogenic	Splice donor variant
rs104886348	G>A	Pathogenic	Splice acceptor variant
rs104886349	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886350	G>A,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886351	->A	Pathogenic	Coding sequence variant, frameshift variant
rs104886352	A>C,G	Pathogenic	Intron variant
rs104886354	AGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886355	AGGGATCCCCGGAGCACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886356	ACCACCAGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886359	TCCTGGACTTGATGTTCCAGGACC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886360	T>G	Pathogenic	Intron variant
rs104886361	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886362	->C	Pathogenic	Coding sequence variant, frameshift variant
rs104886363	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886365	G>A,T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886366	T>-	Pathogenic	Splice donor variant
rs104886367	G>T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886368	->T	Pathogenic	Coding sequence variant, frameshift variant
rs104886369	GTA>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886370	G>A	Pathogenic	Coding sequence variant, missense variant
rs104886371	G>C,T	Pathogenic	Splice donor variant
rs104886372	G>A,C,T	Pathogenic	Splice acceptor variant
rs104886373	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886374	GACCCAGGGCAACCTGGA>-	Pathogenic, likely-pathogenic	Coding sequence variant, inframe deletion
rs104886375	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886377	G>T	Pathogenic	Splice donor variant
rs104886378	G>A	Pathogenic	Splice acceptor variant
rs104886379	A>G	Pathogenic	Splice acceptor variant
rs104886380	->CCTG	Pathogenic	Coding sequence variant, frameshift variant
rs104886381	G>A	Pathogenic	Splice acceptor variant
rs104886382	C>G	Pathogenic	Intron variant
rs104886383	C>G	Pathogenic	Intron variant
rs104886384	G>A	Pathogenic	Splice acceptor variant
rs104886385	A>G	Pathogenic	Splice acceptor variant
rs104886387	C>A,G	Pathogenic	Intron variant
rs104886388	A>G	Pathogenic	Intron variant
rs104886389	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104886390	ACCTCAAGG>-	Pathogenic	Coding sequence variant, inframe deletion, genic upstream transcript variant
rs104886391	AGGTCCAAAGGGCGAACCAGGCTTTCACGGTTTCCCTGGTGTGCAGGGTCCCCCAGGCCCTCCTGGTTCTCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs104886392	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs104886393	CAGGCCCTCCTGGTTCTCCGGGTCCAGCTCTGGAAGGACCTAAAGGCAACCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs104886394	->GGCA	Pathogenic	Coding sequence variant, frameshift variant
rs104886395	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886396	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886397	A>G,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant, downstream transcript variant
rs104886403	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886405	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs104886409	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886413	G>A,C,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs104886414	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886416	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886420	GA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886421	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886423	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs104886424	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs104886426	CGCTGAAA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs104886429	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886430	->T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886431	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs104886432	->G	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886433	->C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886434	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886435	GCCCTCCTGGTCCACCAGG>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886436	TT>-	Pathogenic	Intron variant, genic upstream transcript variant
rs104886437	C>A	Pathogenic	Intron variant, genic upstream transcript variant
rs104886438	->G,GG	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886440	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886441	C>G	Pathogenic	Intron variant, genic upstream transcript variant
rs104886442	G>A,T	Pathogenic	Intron variant, genic upstream transcript variant
rs104886443	AG>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs104886444	T>G	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886445	GGGACTT>-	Pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs104886446	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886447	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs104886448	G>A	Pathogenic	5 prime UTR variant, splice acceptor variant
rs104886449	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs104886450	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs104886451	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs104886452	G>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs104886453	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant, upstream transcript variant
rs142929745	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144282156	C>A,T	Benign, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs150305490	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs183837448	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs201123438	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201220208	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874655	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874656	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874657	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874658	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874659	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281874660	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874661	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874662	A>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs281874663	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874664	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874667	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874668	T>A,C	Pathogenic	Intron variant
rs281874669	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874670	G>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874671	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874672	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874673	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs281874674	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs281874675	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874676	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874677	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874678	TTCCTGGCCCGAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874679	G>C	Pathogenic	Intron variant
rs281874680	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874681	C>T	Pathogenic	Missense variant, coding sequence variant
rs281874682	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874683	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874684	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs281874685	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874686	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874687	G>C,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs281874688	G>T	Pathogenic	Splice donor variant
rs281874689	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874690	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874691	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs281874692	G>T	Pathogenic	Coding sequence variant, stop gained
rs281874694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874695	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874696	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874697	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874698	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874699	G>C	Pathogenic	Missense variant, coding sequence variant
rs281874700	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874701	GTATGATGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874702	G>A,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs281874703	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained
rs281874704	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874705	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874706	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874708	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874710	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874711	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874712	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281874713	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs281874714	G>A	Pathogenic	Splice donor variant
rs281874715	G>T	Pathogenic	Splice donor variant
rs281874716	GGGTGAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281874717	G>A	Pathogenic	Missense variant, coding sequence variant
rs281874719	C>T	Pathogenic	Coding sequence variant, stop gained
rs281874720	CCCCCAGGCCCTCCTGG>T	Pathogenic	Frameshift variant, coding sequence variant
rs281874721	G>T	Pathogenic	Missense variant, coding sequence variant
rs281874722	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874723	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874724	G>A,C	Likely-pathogenic, pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs281874725	G>A	Pathogenic	Downstream transcript variant, splice acceptor variant, genic downstream transcript variant
rs281874727	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874728	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874729	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874731	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874732	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874733	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874734	G>C,T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281874735	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874736	->TCCAGATGGATTGCAAGGTCCCCCAGGTCCCCCTGG	Pathogenic	Inframe insertion, coding sequence variant, genic downstream transcript variant
rs281874737	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874738	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs281874739	G>A	Pathogenic	Intron variant, genic upstream transcript variant
rs281874740	C>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874741	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874742	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874743	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874744	ATTATGTTCCTTCTCCTTTTCC>CA	Pathogenic	Intron variant, genic downstream transcript variant
rs281874745	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874746	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874747	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874748	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874749	TG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874750	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874751	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs281874752	A>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs281874753	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs281874754	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs281874755	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874756	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs281874757	->AG	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874758	A>G,T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs281874759	GC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874761	T>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874762	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs281874763	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs281874764	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874766	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874767	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874768	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs281874769	C>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs377663039	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs397515492	->T	Pathogenic	Frameshift variant, coding sequence variant
rs397515494	->T	Pathogenic	Intron variant, genic downstream transcript variant
rs397515495	CCTCCTGG>AACCTGGACCAATGGGACCAATGGGAACAC	Pathogenic	Frameshift variant, coding sequence variant
rs397515496	G>T	Pathogenic	Missense variant, coding sequence variant
rs397515497	A>G	Pathogenic	Intron variant
rs483352870	G>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587776400	A>G	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs587776401	G>A,C	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs587776402	G>A	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs587776403	G>A,C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs587776404	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs606231370	->AACC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231371	->TCCT	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231372	AGATGGATTGCAAGGTCCCCCAGGTCC>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs606231373	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs606231374	CCCCATT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs753437190	G>A	Likely-pathogenic	Splice acceptor variant
rs755038747	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs759179999	A>C	Pathogenic	Splice acceptor variant
rs759512115	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained, genic upstream transcript variant
rs760109866	A>G	Pathogenic	Splice acceptor variant
rs767087695	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs767619131	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs770451831	G>A,T	Pathogenic	Splice acceptor variant
rs794727397	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045035	G>A	Pathogenic	Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs867625069	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs867721264	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs868580411	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs869025330	A>G	Likely-pathogenic	Intron variant
rs869025331	G>A,C	Pathogenic	Splice donor variant
rs869025332	G>A	Pathogenic	Missense variant, coding sequence variant
rs869025333	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs869025334	G>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs878853015	G>A,T	Likely-pathogenic	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs878853017	AGGTCTTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs878853030	C>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853089	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs878853114	G>A	Pathogenic	Splice donor variant
rs886039886	CCCT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886039890	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041509	G>A,T	Pathogenic	Splice acceptor variant
rs1057516187	CC>G	Pathogenic	Frameshift variant, coding sequence variant
rs1057516203	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057518125	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057522042	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060499694	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060499710	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794029	GGTTTACATGGAATA>-	Pathogenic	Coding sequence variant, splice acceptor variant, intron variant
rs1085307808	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131691795	G>A	Pathogenic	Missense variant, coding sequence variant
rs1131692060	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692246	A>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs1170254952	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1196820381	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1210495852	G>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs1291655627	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1360698598	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1437633065	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs1556403086	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556403112	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556403276	GTAAG>-	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, splice donor variant
rs1556404027	G>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556404985	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556405010	TA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556405916	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556405926	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1556405930	G>A	Uncertain-significance, likely-pathogenic	Intron variant, genic upstream transcript variant
rs1556406001	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556406775	G>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1556406859	A>G	Pathogenic, likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1556407064	G>A,T	Pathogenic, likely-pathogenic	Missense variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs1556407078	C>-	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1556407684	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1556407701	G>T	Pathogenic	Splice donor variant
rs1556410266	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556410516	G>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1556411578	AAGGTGACA>-	Pathogenic	5 prime UTR variant, splice acceptor variant, coding sequence variant
rs1556411631	->C	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1556418210	G>A	Pathogenic	Missense variant, coding sequence variant
rs1556418287	G>A	Pathogenic	Splice donor variant
rs1556419800	->GG	Pathogenic	Frameshift variant, coding sequence variant
rs1556419831	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556419850	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556419869	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556419895	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556420349	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556420358	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556421106	GCCTGGAGACCCAGGGCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1556421731	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1556439394	T>A	Pathogenic	Stop gained, coding sequence variant
rs1556445736	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs1556446493	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1556446657	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556451235	TCCAGAAGGTCCTCCAGGTCTCCCTGGAAATGGAGGTATTAAAGGAGAGAAGGGAAATCCAGG>-	Pathogenic	Genic downstream transcript variant, inframe deletion, coding sequence variant
rs1556453243	G>T	Pathogenic	Genic downstream transcript variant, stop gained, downstream transcript variant, coding sequence variant
rs1556453276	G>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, frameshift variant, coding sequence variant
rs1556462911	CAGATGTGCAGTATGTGAAGCTCCAGCTGTGG>-	Pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant, coding sequence variant
rs1556462917	G>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1556463583	->A	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1569488388	->GT	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant
rs1569488415	->CA	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569488424	GTATT>ATAC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569488426	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488429	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488434	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1569488437	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569488841	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569488946	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569489328	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569489339	CAAGTAA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1569489341	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569489348	AGTA>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, splice donor variant, intron variant
rs1569489353	->T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569489799	C>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1569489828	->CC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569489856	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569489863	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490148	G>T	Pathogenic	Genic upstream transcript variant, intron variant
rs1569490379	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490387	T>C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490446	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490465	T>C	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490592	G>C,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490603	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569490635	G>A	Pathogenic	Genic upstream transcript variant, intron variant
rs1569490913	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490932	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1569490970	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569490975	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1569490985	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1569491068	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1569491075	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs1569491107	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs1569491387	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491399	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491718	G>A	Pathogenic	Splice acceptor variant
rs1569491729	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569491753	G>C	Pathogenic	Splice donor variant
rs1569492113	AACATTGGGTTGCCTGGGTTGCCTGGAGAAAAAGGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569492120	->C	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569492122	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492147	ATACAGG>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569492161	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492172	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569492951	G>A	Pathogenic	Splice acceptor variant
rs1569492996	ATTTCCATTCCTGGACCTCCTGGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569493051	C>G	Pathogenic	Intron variant
rs1569493132	GATATGTGA>-	Pathogenic	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs1569493161	->CAAG	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569493656	->G	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569493662	G>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569493679	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569493892	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1569494000	->TC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1569494061	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569494262	T>G	Pathogenic	Intron variant
rs1569494267	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494281	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494302	AATATAGGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569494304	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1569494322	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569494351	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569494378	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494386	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494393	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569494852	A>G,T	Pathogenic	Splice acceptor variant
rs1569494882	GCCTGGCTTGCCTGGTAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569494903	GTGATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1569495038	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569495049	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1569495747	A>G	Pathogenic	Intron variant
rs1569495758	T>G	Pathogenic	Coding sequence variant, stop gained
rs1569495819	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569496997	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569497013	ATA>T	Pathogenic	Coding sequence variant, frameshift variant
rs1569497022	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569497030	T>G	Pathogenic	Splice donor variant
rs1569497679	GGTTTACATGGAATACC>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1569497680	GTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTGG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1569497690	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569497695	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569497722	CAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGCAGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1569497723	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569497759	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569497776	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs1569498110	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498133	GTGGTGTACCTG>T	Pathogenic	Coding sequence variant, frameshift variant
rs1569498140	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569498249	G>T	Pathogenic	Coding sequence variant, stop gained
rs1569498254	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498258	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498271	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1569498606	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498623	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1569498624	ACCTGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569498896	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569498904	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569499001	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569499010	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569499015	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569499057	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569499064	G>A	Pathogenic	Splice donor variant
rs1569504056	G>A	Pathogenic	Splice acceptor variant
rs1569504068	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1569504072	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569504092	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505374	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1569505385	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1569505525	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569505535	G>T	Pathogenic	Coding sequence variant, missense variant
rs1569505604	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505613	T>A	Pathogenic	Splice donor variant
rs1569505614	A>T	Pathogenic	Intron variant
rs1569505747	TGGAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505758	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569505771	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1569505800	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569505812	C>T	Pathogenic	Coding sequence variant, stop gained
rs1569506917	A>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569506954	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507398	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1569507409	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs1569507535	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507550	CCTGGCCAGCCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs1569507572	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569507577	GG>-	Pathogenic	Coding sequence variant, splice donor variant, genic downstream transcript variant
rs1569508169	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508352	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508360	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508366	->CA	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508382	G>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569508899	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs1569508938	CGGCTGGCAGCTGC>TTTCAT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508951	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569508998	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569508999	A>C,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, intron variant
rs1569509196	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509201	G>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509203	T>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569509210	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509214	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509224	->T	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509234	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509236	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1569509257	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509301	A>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1569509307	->G	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1569509315	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509333	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509336	T>G	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509352	C>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509371	T>C	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1569509492	A>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1569509494	T>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1603276159	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603276180	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603278993	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603279005	T>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603279819	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603282474	G>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1603283547	G>A	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1603283567	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603286154	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1603287481	->AT	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603287820	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1603290097	C>G	Likely-pathogenic	Intron variant
rs1603290131	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1603290148	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603290169	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603290199	CAGGGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1603290681	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603290763	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603290796	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603291770	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603292021	CTG>-	Pathogenic	Coding sequence variant, inframe indel
rs1603292081	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1603292422	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603293553	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1603293570	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603293605	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603293624	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1603293639	T>A	Pathogenic	Splice donor variant
rs1603297223	T>G	Pathogenic	Coding sequence variant, stop gained
rs1603297305	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603297334	G>T	Pathogenic	Coding sequence variant, missense variant
rs1603297903	G>C	Pathogenic	Splice donor variant
rs1603298378	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603298869	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603298993	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603306716	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1603306718	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1603310370	C>T	Pathogenic	Coding sequence variant, stop gained
rs1603310380	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603311030	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603318143	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603318154	AGGA>GGG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603323174	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603323278	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603323355	T>G	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1603323412	AA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603326397	->TTAG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603326561	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603328025	CA>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1603328372	G>T	Pathogenic	Splice acceptor variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018772	hsa-miR-335-5p	Microarray	18185580
MIRT030043	hsa-miR-26b-5p	Microarray	19088304
MIRT053738	hsa-miR-29b-3p	Microarray	22942087
MIRT450882	hsa-miR-222-5p	PAR-CLIP	22100165
MIRT450883	hsa-miR-3171	PAR-CLIP	22100165
MIRT450884	hsa-miR-4264	PAR-CLIP	22100165
MIRT450885	hsa-miR-4797-3p	PAR-CLIP	22100165
MIRT450886	hsa-miR-936	PAR-CLIP	22100165
MIRT450887	hsa-miR-802	PAR-CLIP	22100165
MIRT450888	hsa-miR-3129-5p	PAR-CLIP	22100165
MIRT450889	hsa-miR-199b-3p	PAR-CLIP	22100165
MIRT450890	hsa-miR-199a-3p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005576	Component	Extracellular region	TAS
GO:0005587	Component	Collagen type IV trimer	IEA
GO:0005604	Component	Basement membrane	IBA	21873635
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	28675934
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031594	Component	Neuromuscular junction	IEA
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	28344315, 28675934

Other IDs

• MIM: 303630
• HGNC: 2207
• e!Ensembl: ENSG00000188153

Protein

• UniProt ID: P29400
• Protein name: Collagen alpha-5(IV) chain
• Protein function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.
• PDB: 5NAZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01391	Collagen	33 → 118	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	81 → 164	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	165 → 223	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	283 → 352	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	391 → 449	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	491 → 550	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	598 → 659	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	659 → 706	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	706 → 766	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	754 → 818	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	796 → 854	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	854 → 909	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	896 → 958	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	960 → 1019	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1013 → 1072	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1074 → 1133	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1128 → 1189	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1190 → 1248	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1246 → 1315	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1400 → 1460	Collagen triple helix repeat (20 copies)	Repeat
  PF01413	C4	1462 → 1569	C-terminal tandem repeated domain in type 4 procollagen	Domain
  PF01413	C4	1572 → 1683	C-terminal tandem repeated domain in type 4 procollagen	Domain

• Sequence:

  MKLRGVSLAAGLFLLALSLWGQPAEAAACYGCSPGSKCDCSGIKGEKGERGFPGLEGHPG
  LPGFPGPEGPPGPRGQKGDDGIPGPPGPKGIRGPPGLPGFPGTPGLPGMPGHDGAPGPQG
  IPGCNGTKGERGFPGSPGFPGLQGPPGPPGIPGMKGEPGSIIMSSLPGPKGNPGYPGPPG
  IQGLPGPTGIPGPIGPPGPPGLMGPPGPPGLPGPKGNMGLNFQGPKGEKGEQGLQGPPGP
  PGQISEQKRPIDVEFQKGDQGLPGDRGPPGPPGIRGPPGPPGGEKGEKGEQGEPGKRGKP
  GKDGENGQPGIPGLPGDPGYPGEPGRDGEKGQKGDTGPPGPPGLVIPRPGTGITIGEKGN
  IGLPGLPGEKGERGFPGIQGPPGLPGPPGAAVMGPPGPPGFPGERGQKGDEGPPGISIPG
  PPGLDGQPGAPGLPGPPGPAGPHIPPSDEICEPGPPGPPGSPGDKGLQGEQGVKGDKGDT
  CFNCIGTGISGPPGQPGLPGLPGPPGSLGFPGQKGEKGQAGATGPKGLPGIPGAPGAPGF
  PGSKGEPGDILTFPGMKGDKGELGSPGAPGLPGLPGTPGQDGLPGLPGPKGEPGGITFKG
  ERGPPGNPGLPGLPGNIGPMGPPGFGPPGPVGEKGIQGVAGNPGQPGIPGPKGDPGQTIT
  QPGKPGLPGNPGRDGDVGLPGDPGLPGQPGLPGIPGSKGEPGIPGIGLPGPPGPKGFPGI
  PGPPGAPGTPGRIGLEGPPGPPGFPGPKGEPGFALPGPPGPPGLPGFKGALGPKGDRGFP
  GPPGPPGRTGLDGLPGPKGDVGPNGQPGPMGPPGLPGIGVQGPPGPPGIPGPIGQPGLHG
  IPGEKGDPGPPGLDVPGPPGERGSPGIPGAPGPIGPPGSPGLPGKAGASGFPGTKGEMGM
  MGPPGPPGPLGIPGRSGVPGLKGDDGLQGQPGLPGPTGEKGSKGEPGLPGPPGPMDPNLL
  GSKGEKGEPGLPGIPGVSGPKGYQGLPGDPGQPGLSGQPGLPGPPGPKGNPGLPGQPGLI
  GPPGLKGTIGDMGFPGPQGVEGPPGPSGVPGQPGSPGLPGQKGDKGDPGISSIGLPGLPG
  PKGEPGLPGYPGNPGIKGSVGDPGLPGLPGTPGAKGQPGLPGFPGTPGPPGPKGISGPPG
  NPGLPGEPGPVGGGGHPGQPGPPGEKGKPGQDGIPGPAGQKGEPGQPGFGNPGPPGLPGL
  SGQKGDGGLPGIPGNPGLPGPKGEPGFHGFPGVQGPPGPPGSPGPALEGPKGNPGPQGPP
  GRPGLPGPEGPPGLPGNGGIKGEKGNPGQPGLPGLPGLKGDQGPPGLQGNPGRPGLNGMK
  GDPGLPGVPGFPGMKGPSGVPGSAGPEGEPGLIGPPGPPGLPGPSGQSIIIKGDAGPPGI
  PGQPGLKGLPGPQGPQGLPGPTGPPGDPGRNGLPGFDGAGGRKGDPGLPGQPGTRGLDGP
  PGPDGLQGPPGPPGTSSVAHGFLITRHSQTTDAPQCPQGTLQVYEGFSLLYVQGNKRAHG
  QDLGTAGSCLRRFSTMPFMFCNINNVCNFASRNDYSYWLSTPEPMPMSMQPLKGQSIQPF
  ISRCAVCEAPAVVIAVHSQTIQIPHCPQGWDSLWIGYSFMMHTSAGAEGSGQALASPGSC
  LEEFRSAPFIECHGRGTCNYYANSYSFWLATVDVSDMFSKPQSETLKAGDLRTRISRCQV
  CMKRT

• Sequence length: 1685