Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.19999538_20008463dup	CA2580611595	MATN3	c.224-2153_1168+903dup c.224-2153_1042+903dup
2	g.20006001G>A	CA345950894	MATN3	c.533C>T (p.Ala178Val)	dbSNP gnomAD v2 gnomAD v4
2	g.20006001G>C	CA345950895	MATN3	c.533C>G (p.Ala178Gly)	gnomAD v4
2	g.20006001G=	CA2493007932	MATN3	c.533C= (p.Ala178=)
2	g.20006001G>T	CA345950896	MATN3	c.533C>A (p.Ala178Glu)
2	g.20006002C>A	CA345950897	MATN3	c.532G>T (p.Ala178Ser)
2	g.20006002C>G	CA345950898	MATN3	c.532G>C (p.Ala178Pro)
2	g.20006002C>T	CA345950899	MATN3	c.532G>A (p.Ala178Thr)
2	g.20006003C>A	CA345950900	MATN3	c.531G>T (p.Glu177Asp)
2	g.20006003C=	CA2493007933	MATN3	c.531G= (p.Glu177=)
2	g.20006003C>G	CA345950901	MATN3	c.531G>C (p.Glu177Asp)
2	g.20006003C>T	CA425341124	MATN3	c.531G>A (p.Glu177=)	dbSNP gnomAD v4
2	g.20006004T>A	CA345950904	MATN3	c.530A>T (p.Glu177Val)
2	g.20006004T>C	CA345950903	MATN3	c.530A>G (p.Glu177Gly)	gnomAD v4
2	g.20006004T>G	CA345950902	MATN3	c.530A>C (p.Glu177Ala)	gnomAD v4
2	g.20006008_20006025del	CA2573133139	MATN3	c.513_530del (p.Asp171_Val176del)	ClinVar dbSNP
2	g.20006005C>A	CA345950905	MATN3	c.529G>T (p.Glu177Ter)
2	g.20006005C>G	CA345950906	MATN3	c.529G>C (p.Glu177Gln)
2	g.20006005C>T	CA345950907	MATN3	c.529G>A (p.Glu177Lys)
2	g.20006006C>A	CA425341125	MATN3	c.528G>T (p.Val176=)
2	g.20006006C=	CA2493007934	MATN3	c.528G= (p.Val176=)
2	g.20006006C>G	CA425341127	MATN3	c.528G>C (p.Val176=)
2	g.20006006C>T	CA425341126	MATN3	c.528G>A (p.Val176=)	dbSNP
2	g.20006007A>C	CA345950908	MATN3	c.527T>G (p.Val176Gly)
2	g.20006007A>G	CA345950909	MATN3	c.527T>C (p.Val176Ala)
2	g.20006007A>T	CA345950910	MATN3	c.527T>A (p.Val176Glu)
2	g.20006008C>A	CA1543956	MATN3	c.526G>T (p.Val176Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006008C=	CA2493007935	MATN3	c.526G= (p.Val176=)
2	g.20006008C>G	CA43403846	MATN3	c.526G>C (p.Val176Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006008C>T	CA345950911	MATN3	c.526G>A (p.Val176Met)	dbSNP
2	g.20006009T>A	CA425341128	MATN3	c.525A>T (p.Thr175=)
2	g.20006009T>C	CA425341129	MATN3	c.525A>G (p.Thr175=)
2	g.20006009T>G	CA425341130	MATN3	c.525A>C (p.Thr175=)
2	g.20006010G>A	CA345950912	MATN3	c.524C>T (p.Thr175Ile)	gnomAD v4
2	g.20006010G>C	CA345950913	MATN3	c.524C>G (p.Thr175Arg)
2	g.20006010G=	CA2493007936	MATN3	c.524C= (p.Thr175=)
2	g.20006010G>T	CA345950914	MATN3	c.524C>A (p.Thr175Lys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.20006011T>A	CA345950916	MATN3	c.523A>T (p.Thr175Ser)
2	g.20006011T>C	CA345950915	MATN3	c.523A>G (p.Thr175Ala)	gnomAD v4
2	g.20006011T>G	CA1543957	MATN3	c.523A>C (p.Thr175Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006011T=	CA2493007937	MATN3	c.523A= (p.Thr175=)
2	g.20006012G>A	CA425341131	MATN3	c.522C>T (p.Phe174=)
2	g.20006012G>C	CA345950918	MATN3	c.522C>G (p.Phe174Leu)
2	g.20006012G>T	CA345950917	MATN3	c.522C>A (p.Phe174Leu)
2	g.20006013A>C	CA345950919	MATN3	c.521T>G (p.Phe174Cys)
2	g.20006013A>G	CA345950920	MATN3	c.521T>C (p.Phe174Ser)	ClinVar
2	g.20006013A>T	CA345950921	MATN3	c.521T>A (p.Phe174Tyr)
2	g.20006014A=	CA2493007938	MATN3	c.520T= (p.Phe174=)
2	g.20006014A>C	CA345950922	MATN3	c.520T>G (p.Phe174Val)	ClinVar dbSNP
2	g.20006014A>G	CA345950923	MATN3	c.520T>C (p.Phe174Leu)
2	g.20006014A>T	CA345950924	MATN3	c.520T>A (p.Phe174Ile)
2	g.20006015G>A	CA425341132	MATN3	c.519C>T (p.Ala173=)	COSMIC
2	g.20006015G>C	CA425341133	MATN3	c.519C>G (p.Ala173=)
2	g.20006015G>T	CA425341134	MATN3	c.519C>A (p.Ala173=)
2	g.20006016G>A	CA1543958	MATN3	c.518C>T (p.Ala173Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20006016G>C	CA345950925	MATN3	c.518C>G (p.Ala173Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.20006016G=	CA2493007939	MATN3	c.518C= (p.Ala173=)
2	g.20006016G>T	CA241466	MATN3	c.518C>A (p.Ala173Asp)	ClinVar dbSNP gnomAD v4
2	g.20006017C>A	CA345950926	MATN3	c.517G>T (p.Ala173Ser)
2	g.20006017C>G	CA345950927	MATN3	c.517G>C (p.Ala173Pro)
2	g.20006017C>T	CA345950928	MATN3	c.517G>A (p.Ala173Thr)
2	g.20006018T>A	CA345950929	MATN3	c.516A>T (p.Glu172Asp)
2	g.20006018T>C	CA425341135	MATN3	c.516A>G (p.Glu172=)
2	g.20006018T>G	CA345950930	MATN3	c.516A>C (p.Glu172Asp)
2	g.20006019T>A	CA345950931	MATN3	c.515A>T (p.Glu172Val)
2	g.20006019T>C	CA345950933	MATN3	c.515A>G (p.Glu172Gly)	dbSNP gnomAD v4
2	g.20006019T>G	CA345950932	MATN3	c.515A>C (p.Glu172Ala)
2	g.20006019T=	CA2493007940	MATN3	c.515A= (p.Glu172=)
2	g.20006020C>A	CA345950934	MATN3	c.514G>T (p.Glu172Ter)
2	g.20006020C=	CA2493007941	MATN3	c.514G= (p.Glu172=)
2	g.20006020C>G	CA345950935	MATN3	c.514G>C (p.Glu172Gln)
2	g.20006020C>T	CA43403860	MATN3	c.514G>A (p.Glu172Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006021G>A	CA1543959	MATN3	c.513C>T (p.Asp171=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006021G>C	CA345950936	MATN3	c.513C>G (p.Asp171Glu)
2	g.20006021G=	CA2493007942	MATN3	c.513C= (p.Asp171=)
2	g.20006021G>T	CA345950937	MATN3	c.513C>A (p.Asp171Glu)
2	g.20006022T>A	CA345950938	MATN3	c.512A>T (p.Asp171Val)
2	g.20006022T>C	CA345950939	MATN3	c.512A>G (p.Asp171Gly)
2	g.20006022T>G	CA345950940	MATN3	c.512A>C (p.Asp171Ala)
2	g.20006023C>A	CA345950941	MATN3	c.511G>T (p.Asp171Tyr)
2	g.20006023C=	CA2493007943	MATN3	c.511G= (p.Asp171=)
2	g.20006023C>G	CA345950942	MATN3	c.511G>C (p.Asp171His)
2	g.20006023C>T	CA1543960	MATN3	c.511G>A (p.Asp171Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006024C>A	CA345950943	MATN3	c.510G>T (p.Met170Ile)
2	g.20006024C=	CA2493007944	MATN3	c.510G= (p.Met170=)
2	g.20006024C>G	CA345950944	MATN3	c.510G>C (p.Met170Ile)
2	g.20006024C>T	CA1543961	MATN3	c.510G>A (p.Met170Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006025A>C	CA345950945	MATN3	c.509T>G (p.Met170Arg)
2	g.20006025A>G	CA345950946	MATN3	c.509T>C (p.Met170Thr)	gnomAD v4 COSMIC
2	g.20006025A>T	CA345950947	MATN3	c.509T>A (p.Met170Lys)
2	g.20006026T>A	CA345950948	MATN3	c.508A>T (p.Met170Leu)
2	g.20006026T>C	CA345950949	MATN3	c.508A>G (p.Met170Val)
2	g.20006026T>G	CA345950950	MATN3	c.508A>C (p.Met170Leu)
2	g.20006027T>A	CA425339807	MATN3	c.507A>T (p.Ala169=)
2	g.20006027T>C	CA425339808	MATN3	c.507A>G (p.Ala169=)
2	g.20006027T>G	CA425339809	MATN3	c.507A>C (p.Ala169=)
2	g.20006028G>A	CA345950951	MATN3	c.506C>T (p.Ala169Val)	dbSNP
2	g.20006028G>C	CA345950952	MATN3	c.506C>G (p.Ala169Gly)
2	g.20006028G=	CA2493007945	MATN3	c.506C= (p.Ala169=)
2	g.20006028G>T	CA345950953	MATN3	c.506C>A (p.Ala169Glu)
2	g.20006029C>A	CA345950954	MATN3	c.505G>T (p.Ala169Ser)
2	g.20006029C=	CA2493007946	MATN3	c.505G= (p.Ala169=)
2	g.20006029C>G	CA345950955	MATN3	c.505G>C (p.Ala169Pro)
2	g.20006029C>T	CA345950956	MATN3	c.505G>A (p.Ala169Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.20006030T>A	CA425339810	MATN3	c.504A>T (p.Thr168=)
2	g.20006030T>C	CA425339811	MATN3	c.504A>G (p.Thr168=)
2	g.20006030T>G	CA425339812	MATN3	c.504A>C (p.Thr168=)
2	g.20006031G>A	CA345950959	MATN3	c.503C>T (p.Thr168Ile)	gnomAD v4 COSMIC
2	g.20006031G>C	CA345950957	MATN3	c.503C>G (p.Thr168Arg)	gnomAD v4
2	g.20006031G=	CA2493007947	MATN3	c.503C= (p.Thr168=)
2	g.20006031G>T	CA345950958	MATN3	c.503C>A (p.Thr168Lys)	dbSNP
2	g.20006032T>A	CA43403882	MATN3	c.502A>T (p.Thr168Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.20006032T>C	CA345950960	MATN3	c.502A>G (p.Thr168Ala)
2	g.20006032T>G	CA345950961	MATN3	c.502A>C (p.Thr168Pro)
2	g.20006032T=	CA2493007948	MATN3	c.502A= (p.Thr168=)
2	g.20006033C>A	CA345950962	MATN3	c.501G>T (p.Gln167His)	COSMIC
2	g.20006033C=	CA2493007949	MATN3	c.501G= (p.Gln167=)
2	g.20006033C>G	CA345950963	MATN3	c.501G>C (p.Gln167His)	dbSNP gnomAD v4
2	g.20006033C>T	CA425339813	MATN3	c.501G>A (p.Gln167=)
2	g.20006034T>A	CA345950964	MATN3	c.500A>T (p.Gln167Leu)
2	g.20006034T>C	CA345950965	MATN3	c.500A>G (p.Gln167Arg)	gnomAD v4
2	g.20006034T>G	CA345950966	MATN3	c.500A>C (p.Gln167Pro)
2	g.20006035G>A	CA345950967	MATN3	c.499C>T (p.Gln167Ter)	COSMIC
2	g.20006035G>C	CA345950968	MATN3	c.499C>G (p.Gln167Glu)
2	g.20006035G>T	CA345950969	MATN3	c.499C>A (p.Gln167Lys)
2	g.20006036G>A	CA425339814	MATN3	c.498C>T (p.Ile166=)
2	g.20006036G>C	CA345950970	MATN3	c.498C>G (p.Ile166Met)
2	g.20006036G>T	CA425339815	MATN3	c.498C>A (p.Ile166=)
2	g.20006037A>C	CA345950972	MATN3	c.497T>G (p.Ile166Ser)
2	g.20006037A>G	CA345950973	MATN3	c.497T>C (p.Ile166Thr)	ClinVar dbSNP gnomAD v4
2	g.20006037A>T	CA345950971	MATN3	c.497T>A (p.Ile166Asn)
2	g.20006038T>A	CA1543962	MATN3	c.496A>T (p.Ile166Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20006038T>C	CA345950975	MATN3	c.496A>G (p.Ile166Val)	dbSNP gnomAD v3 gnomAD v4
2	g.20006038T>G	CA345950974	MATN3	c.496A>C (p.Ile166Leu)
2	g.20006038T=	CA2493007950	MATN3	c.496A= (p.Ile166=)
2	g.20006039G>A	CA425339816	MATN3	c.495C>T (p.Ala165=)
2	g.20006039G>C	CA425339817	MATN3	c.495C>G (p.Ala165=)
2	g.20006039G>T	CA425339818	MATN3	c.495C>A (p.Ala165=)
2	g.20006040G>A	CA345950976	MATN3	c.494C>T (p.Ala165Val)
2	g.20006040G>C	CA345950978	MATN3	c.494C>G (p.Ala165Gly)
2	g.20006040G>T	CA345950977	MATN3	c.494C>A (p.Ala165Asp)
2	g.20006041C>A	CA345950979	MATN3	c.493G>T (p.Ala165Ser)
2	g.20006041C>G	CA345950980	MATN3	c.493G>C (p.Ala165Pro)
2	g.20006041C>T	CA345950981	MATN3	c.493G>A (p.Ala165Thr)
2	g.20006042T>A	CA425339819	MATN3	c.492A>T (p.Leu164=)	dbSNP gnomAD v2 gnomAD v4
2	g.20006042T>C	CA425339820	MATN3	c.492A>G (p.Leu164=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006042T>G	CA425339821	MATN3	c.492A>C (p.Leu164=)	gnomAD v4
2	g.20006042T=	CA2493007951	MATN3	c.492A= (p.Leu164=)
2	g.20006043A>C	CA345950982	MATN3	c.491T>G (p.Leu164Arg)
2	g.20006043A>G	CA345950983	MATN3	c.491T>C (p.Leu164Pro)
2	g.20006043A>T	CA345950984	MATN3	c.491T>A (p.Leu164Gln)
2	g.20006044G>A	CA425339822	MATN3	c.490C>T (p.Leu164=)	gnomAD v4
2	g.20006044G>C	CA1543963	MATN3	c.490C>G (p.Leu164Val)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20006044G=	CA2493007952	MATN3	c.490C= (p.Leu164=)
2	g.20006044G>T	CA345950985	MATN3	c.490C>A (p.Leu164Ile)
2	g.20006045G>A	CA425339823	MATN3	c.489C>T (p.Gly163=)	dbSNP
2	g.20006045G>C	CA425339824	MATN3	c.489C>G (p.Gly163=)
2	g.20006045G=	CA2493007953	MATN3	c.489C= (p.Gly163=)
2	g.20006045G>T	CA425339825	MATN3	c.489C>A (p.Gly163=)
2	g.20006046C>A	CA345950986	MATN3	c.488G>T (p.Gly163Val)	dbSNP gnomAD v3 gnomAD v4
2	g.20006046C=	CA2493007954	MATN3	c.488G= (p.Gly163=)
2	g.20006046C>G	CA345950987	MATN3	c.488G>C (p.Gly163Ala)
2	g.20006046C>T	CA345950988	MATN3	c.488G>A (p.Gly163Asp)	gnomAD v4
2	g.20006047C>A	CA345950989	MATN3	c.487G>T (p.Gly163Cys)
2	g.20006047C=	CA2493007955	MATN3	c.487G= (p.Gly163=)
2	g.20006047C>G	CA345950991	MATN3	c.487G>C (p.Gly163Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.20006047C>T	CA345950990	MATN3	c.487G>A (p.Gly163Ser)
2	g.20006048T>A	CA425339826	MATN3	c.486A>T (p.Ser162=)
2	g.20006048T>C	CA425339827	MATN3	c.486A>G (p.Ser162=)
2	g.20006048T>G	CA425339828	MATN3	c.486A>C (p.Ser162=)
2	g.20006049G>A	CA345950992	MATN3	c.485C>T (p.Ser162Leu)
2	g.20006049G>C	CA345950993	MATN3	c.485C>G (p.Ser162Ter)
2	g.20006049G>T	CA345950994	MATN3	c.485C>A (p.Ser162Ter)
2	g.20006050A=	CA2493007956	MATN3	c.484T= (p.Ser162=)
2	g.20006050A>C	CA345950995	MATN3	c.484T>G (p.Ser162Ala)
2	g.20006050A>G	CA345950996	MATN3	c.484T>C (p.Ser162Pro)	dbSNP gnomAD v2 gnomAD v4
2	g.20006050A>T	CA345950997	MATN3	c.484T>A (p.Ser162Thr)
2	g.20006051C>A	CA345950998	MATN3	c.483G>T (p.Met161Ile)
2	g.20006051C>G	CA345950999	MATN3	c.483G>C (p.Met161Ile)
2	g.20006051C>T	CA345951000	MATN3	c.483G>A (p.Met161Ile)
2	g.20006052A=	CA2493007957	MATN3	c.482T= (p.Met161=)
2	g.20006052A>C	CA345951002	MATN3	c.482T>G (p.Met161Arg)
2	g.20006052A>G	CA345951003	MATN3	c.482T>C (p.Met161Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006052A>T	CA345951001	MATN3	c.482T>A (p.Met161Lys)
2	g.20006053T>A	CA345951004	MATN3	c.481A>T (p.Met161Leu)
2	g.20006053T>C	CA1543964	MATN3	c.481A>G (p.Met161Val)	dbSNP ExAC gnomAD v2
2	g.20006053T>G	CA345951005	MATN3	c.481A>C (p.Met161Leu)
2	g.20006053T=	CA2493007958	MATN3	c.481A= (p.Met161=)
2	g.20006054G>A	CA425339829	MATN3	c.480C>T (p.Thr160=)	dbSNP gnomAD v4
2	g.20006054G>C	CA1543965	MATN3	c.480C>G (p.Thr160=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20006054G=	CA2493007959	MATN3	c.480C= (p.Thr160=)
2	g.20006054G>T	CA425339830	MATN3	c.480C>A (p.Thr160=)
2	g.20006055G>A	CA345951008	MATN3	c.479C>T (p.Thr160Ile)	gnomAD v4
2	g.20006055G>C	CA345951007	MATN3	c.479C>G (p.Thr160Ser)
2	g.20006055G>T	CA345951006	MATN3	c.479C>A (p.Thr160Asn)	gnomAD v4
2	g.20006056T>A	CA345951009	MATN3	c.478A>T (p.Thr160Ser)
2	g.20006056T>C	CA345951010	MATN3	c.478A>G (p.Thr160Ala)	dbSNP gnomAD v4
2	g.20006056T>G	CA345951011	MATN3	c.478A>C (p.Thr160Pro)
2	g.20006056T=	CA2493007960	MATN3	c.478A= (p.Thr160=)
2	g.20006057G>A	CA425339831	MATN3	c.477C>T (p.Gly159=)	ClinVar dbSNP
2	g.20006057G>C	CA425339832	MATN3	c.477C>G (p.Gly159=)	ClinVar dbSNP gnomAD v4
2	g.20006057G=	CA2493007961	MATN3	c.477C= (p.Gly159=)
2	g.20006057G>T	CA425339833	MATN3	c.477C>A (p.Gly159=)
2	g.20006058C>A	CA345951012	MATN3	c.476G>T (p.Gly159Val)
2	g.20006058C=	CA2493007962	MATN3	c.476G= (p.Gly159=)
2	g.20006058C>G	CA345951013	MATN3	c.476G>C (p.Gly159Ala)	gnomAD v4
2	g.20006058C>T	CA345951014	MATN3	c.476G>A (p.Gly159Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.20006059C>A	CA345951015	MATN3	c.475G>T (p.Gly159Cys)
2	g.20006059C=	CA2493007963	MATN3	c.475G= (p.Gly159=)
2	g.20006059C>G	CA345951017	MATN3	c.475G>C (p.Gly159Arg)
2	g.20006059C>T	CA345951016	MATN3	c.475G>A (p.Gly159Ser)	gnomAD v4
2	g.20006060T>A	CA425339834	MATN3	c.474A>T (p.Thr158=)
2	g.20006060T>C	CA425339835	MATN3	c.474A>G (p.Thr158=)	gnomAD v4
2	g.20006060T>G	CA425339836	MATN3	c.474A>C (p.Thr158=)
2	g.20006062_20006075dup	CA530995670	MATN3	c.461_474dup (p.Gly159HisfsTer11)	dbSNP gnomAD v2 gnomAD v4
2	g.20006061G>A	CA345951018	MATN3	c.473C>T (p.Thr158Ile)
2	g.20006061G>C	CA345951019	MATN3	c.473C>G (p.Thr158Arg)
2	g.20006061G>T	CA345951020	MATN3	c.473C>A (p.Thr158Lys)
2	g.20006062T>A	CA345951021	MATN3	c.472A>T (p.Thr158Ser)
2	g.20006062T>C	CA345951022	MATN3	c.472A>G (p.Thr158Ala)	gnomAD v4
2	g.20006062T>G	CA345951023	MATN3	c.472A>C (p.Thr158Pro)
2	g.20006063T>A	CA425339837	MATN3	c.471A>T (p.Ser157=)
2	g.20006063T>C	CA425339838	MATN3	c.471A>G (p.Ser157=)
2	g.20006063T>G	CA425339839	MATN3	c.471A>C (p.Ser157=)
2	g.20006064G>A	CA43403928	MATN3	c.470C>T (p.Ser157Leu)	dbSNP gnomAD v2
2	g.20006064G>C	CA345951024	MATN3	c.470C>G (p.Ser157Ter)
2	g.20006064G=	CA2493007964	MATN3	c.470C= (p.Ser157=)
2	g.20006064G>T	CA345951025	MATN3	c.470C>A (p.Ser157Ter)	gnomAD v4
2	g.20006065A>C	CA345951026	MATN3	c.469T>G (p.Ser157Ala)	gnomAD v4
2	g.20006065A>G	CA345951027	MATN3	c.469T>C (p.Ser157Pro)
2	g.20006065A>T	CA345951028	MATN3	c.469T>A (p.Ser157Thr)
2	g.20006066C>A	CA345951030	MATN3	c.468G>T (p.Leu156Phe)	gnomAD v4
2	g.20006066C>G	CA345951029	MATN3	c.468G>C (p.Leu156Phe)
2	g.20006066C>T	CA425339840	MATN3	c.468G>A (p.Leu156=)
2	g.20006067A>C	CA345951031	MATN3	c.467T>G (p.Leu156Trp)
2	g.20006067A>G	CA345951033	MATN3	c.467T>C (p.Leu156Ser)
2	g.20006067A>T	CA345951032	MATN3	c.467T>A (p.Leu156Ter)
2	g.20006068A=	CA2493007965	MATN3	c.466T= (p.Leu156=)
2	g.20006068A>C	CA345951034	MATN3	c.466T>G (p.Leu156Val)
2	g.20006068A>G	CA425339841	MATN3	c.466T>C (p.Leu156=)
2	g.20006068A>T	CA345951035	MATN3	c.466T>A (p.Leu156Met)	dbSNP gnomAD v3 gnomAD v4
2	g.20006069G>A	CA425339842	MATN3	c.465C>T (p.Pro155=)	gnomAD v4
2	g.20006069G>C	CA425339843	MATN3	c.465C>G (p.Pro155=)	gnomAD v4
2	g.20006069G>T	CA425339844	MATN3	c.465C>A (p.Pro155=)
2	g.20006070G>A	CA345951036	MATN3	c.464C>T (p.Pro155Leu)
2	g.20006070G>C	CA345951037	MATN3	c.464C>G (p.Pro155Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006070G=	CA2493007966	MATN3	c.464C= (p.Pro155=)
2	g.20006070G>T	CA345951038	MATN3	c.464C>A (p.Pro155His)
2	g.20006071G>A	CA345951039	MATN3	c.463C>T (p.Pro155Ser)	gnomAD v4
2	g.20006071G>C	CA345951040	MATN3	c.463C>G (p.Pro155Ala)
2	g.20006071G>T	CA345951041	MATN3	c.463C>A (p.Pro155Thr)
2	g.20006072T>A	CA425339845	MATN3	c.462A>T (p.Thr154=)
2	g.20006072T>C	CA425339846	MATN3	c.462A>G (p.Thr154=)
2	g.20006072T>G	CA425339847	MATN3	c.462A>C (p.Thr154=)	dbSNP gnomAD v4
2	g.20006072T=	CA2493007967	MATN3	c.462A= (p.Thr154=)
2	g.20006073G>A	CA1543966	MATN3	c.461C>T (p.Thr154Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006073G>C	CA345951042	MATN3	c.461C>G (p.Thr154Arg)
2	g.20006073G=	CA2493007968	MATN3	c.461C= (p.Thr154=)
2	g.20006073G>T	CA345951043	MATN3	c.461C>A (p.Thr154Lys)
2	g.20006074T>A	CA1543967	MATN3	c.460A>T (p.Thr154Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006074T>C	CA345951045	MATN3	c.460A>G (p.Thr154Ala)
2	g.20006074T>G	CA345951044	MATN3	c.460A>C (p.Thr154Pro)
2	g.20006074T=	CA2493007969	MATN3	c.460A= (p.Thr154=)
2	g.20006075G>A	CA425339849	MATN3	c.459C>T (p.Ile153=)
2	g.20006075G>C	CA345951046	MATN3	c.459C>G (p.Ile153Met)
2	g.20006075G>T	CA425339848	MATN3	c.459C>A (p.Ile153=)
2	g.20006076A>C	CA345951047	MATN3	c.458T>G (p.Ile153Ser)
2	g.20006076A>G	CA345951048	MATN3	c.458T>C (p.Ile153Thr)
2	g.20006076A>T	CA345951049	MATN3	c.458T>A (p.Ile153Asn)
2	g.20006077T>A	CA345951050	MATN3	c.457A>T (p.Ile153Phe)
2	g.20006077T>C	CA345951051	MATN3	c.457A>G (p.Ile153Val)
2	g.20006077T>G	CA345951052	MATN3	c.457A>C (p.Ile153Leu)
2	g.20006078T>A	CA425339850	MATN3	c.456A>T (p.Arg152=)
2	g.20006078T>C	CA425339851	MATN3	c.456A>G (p.Arg152=)
2	g.20006078T>G	CA425339852	MATN3	c.456A>C (p.Arg152=)
2	g.20006079C>A	CA345951053	MATN3	c.455G>T (p.Arg152Leu)
2	g.20006079C=	CA2493007970	MATN3	c.455G= (p.Arg152=)
2	g.20006079C>G	CA345951054	MATN3	c.455G>C (p.Arg152Pro)
2	g.20006079C>T	CA345951055	MATN3	c.455G>A (p.Arg152Gln)	dbSNP gnomAD v3 gnomAD v4
2	g.20006080G>A	CA1543968	MATN3	c.454C>T (p.Arg152Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006080G>C	CA345951056	MATN3	c.454C>G (p.Arg152Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.20006080G=	CA2493007971	MATN3	c.454C= (p.Arg152=)
2	g.20006080G>T	CA425339853	MATN3	c.454C>A (p.Arg152=)
2	g.20006081A>C	CA425339854	MATN3	c.453T>G (p.Gly151=)	gnomAD v4
2	g.20006081A>G	CA425339855	MATN3	c.453T>C (p.Gly151=)
2	g.20006081A>T	CA425339856	MATN3	c.453T>A (p.Gly151=)
2	g.20006082C>A	CA345951059	MATN3	c.452G>T (p.Gly151Val)	dbSNP gnomAD v4
2	g.20006082C=	CA2493007972	MATN3	c.452G= (p.Gly151=)
2	g.20006082C>G	CA345951058	MATN3	c.452G>C (p.Gly151Ala)
2	g.20006082C>T	CA345951057	MATN3	c.452G>A (p.Gly151Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.20006083C>A	CA345951060	MATN3	c.451G>T (p.Gly151Cys)
2	g.20006083C=	CA2493007973	MATN3	c.451G= (p.Gly151=)
2	g.20006083C>G	CA43403969	MATN3	c.451G>C (p.Gly151Arg)	dbSNP
2	g.20006083C>T	CA345951061	MATN3	c.451G>A (p.Gly151Ser)	gnomAD v4
2	g.20006084C>A	CA425339857	MATN3	c.450G>T (p.Val150=)
2	g.20006084C=	CA2493007975	MATN3	c.450G= (p.Val150=)
2	g.20006084C>G	CA425339858	MATN3	c.450G>C (p.Val150=)
2	g.20006084C>T	CA425339859	MATN3	c.450G>A (p.Val150=)	dbSNP gnomAD v4
2	g.20006084_20006085delinsCA	CA2493007974	MATN3	c.449_450delinsTG (p.Val150=)
2	g.20006085del	CA1543969	MATN3	c.449del (p.Val150GlyfsTer15)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006085A>C	CA345951062	MATN3	c.449T>G (p.Val150Gly)
2	g.20006085A>G	CA345951063	MATN3	c.449T>C (p.Val150Ala)
2	g.20006085A>T	CA345951064	MATN3	c.449T>A (p.Val150Glu)
2	g.20006086C>A	CA345951065	MATN3	c.448G>T (p.Val150Leu)
2	g.20006086C=	CA2493007976	MATN3	c.448G= (p.Val150=)
2	g.20006086C>G	CA345951067	MATN3	c.448G>C (p.Val150Leu)
2	g.20006086C>T	CA345951066	MATN3	c.448G>A (p.Val150Met)	dbSNP gnomAD v2 gnomAD v4
2	g.20006087G>A	CA201610	MATN3	c.447C>T (p.Ala149=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20006087G>C	CA425339860	MATN3	c.447C>G (p.Ala149=)	dbSNP
2	g.20006087G=	CA1630834302	MATN3	c.447C= (p.Ala149=)
2	g.20006087G>T	CA425339861	MATN3	c.447C>A (p.Ala149=)	dbSNP
2	g.20006088G>A	CA345951068	MATN3	c.446C>T (p.Ala149Val)
2	g.20006088G>C	CA345951069	MATN3	c.446C>G (p.Ala149Gly)
2	g.20006088G>T	CA345951070	MATN3	c.446C>A (p.Ala149Asp)
2	g.20006089C>A	CA345951071	MATN3	c.445G>T (p.Ala149Ser)
2	g.20006089C>G	CA345951073	MATN3	c.445G>C (p.Ala149Pro)
2	g.20006089C>T	CA345951072	MATN3	c.445G>A (p.Ala149Thr)
2	g.20006090C>A	CA345951074	MATN3	c.444G>T (p.Gln148His)
2	g.20006090C=	CA2493007977	MATN3	c.444G= (p.Gln148=)
2	g.20006090C>G	CA43403983	MATN3	c.444G>C (p.Gln148His)	dbSNP gnomAD v4
2	g.20006090C>T	CA1543970	MATN3	c.444G>A (p.Gln148=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20006091T>A	CA345951075	MATN3	c.443A>T (p.Gln148Leu)
2	g.20006091T>C	CA345951076	MATN3	c.443A>G (p.Gln148Arg)	gnomAD v4
2	g.20006091T>G	CA345951077	MATN3	c.443A>C (p.Gln148Pro)
2	g.20006092G>A	CA345951078	MATN3	c.442C>T (p.Gln148Ter)
2	g.20006092G>C	CA345951079	MATN3	c.442C>G (p.Gln148Glu)
2	g.20006092G>T	CA345951080	MATN3	c.442C>A (p.Gln148Lys)
2	g.20006093C>A	CA345951081	MATN3	c.441G>T (p.Lys147Asn)
2	g.20006093C>G	CA345951082	MATN3	c.441G>C (p.Lys147Asn)
2	g.20006093C>T	CA425339862	MATN3	c.441G>A (p.Lys147=)
2	g.20006094T>A	CA345951085	MATN3	c.440A>T (p.Lys147Met)
2	g.20006094T>C	CA345951084	MATN3	c.440A>G (p.Lys147Arg)
2	g.20006094T>G	CA345951083	MATN3	c.440A>C (p.Lys147Thr)
2	g.20006095T>A	CA345951086	MATN3	c.439A>T (p.Lys147Ter)
2	g.20006095T>C	CA345951088	MATN3	c.439A>G (p.Lys147Glu)
2	g.20006095T>G	CA345951087	MATN3	c.439A>C (p.Lys147Gln)	gnomAD v4
2	g.20006096C>A	CA425339863	MATN3	c.438G>T (p.Leu146=)
2	g.20006096C>G	CA425339864	MATN3	c.438G>C (p.Leu146=)
2	g.20006096C>T	CA425339865	MATN3	c.438G>A (p.Leu146=)
2	g.20006097A>C	CA345951089	MATN3	c.437T>G (p.Leu146Arg)	ClinVar dbSNP
2	g.20006097A>G	CA345951090	MATN3	c.437T>C (p.Leu146Pro)	ClinVar dbSNP
2	g.20006097A>T	CA345951091	MATN3	c.437T>A (p.Leu146Gln)
2	g.20006098G>A	CA425339866	MATN3	c.436C>T (p.Leu146=)
2	g.20006098G>C	CA345951092	MATN3	c.436C>G (p.Leu146Val)
2	g.20006098G>T	CA345951093	MATN3	c.436C>A (p.Leu146Met)
2	g.20006099G>A	CA425339867	MATN3	c.435C>T (p.Ser145=)	gnomAD v4 COSMIC
2	g.20006099G>C	CA425339868	MATN3	c.435C>G (p.Ser145=)
2	g.20006099G>T	CA425339869	MATN3	c.435C>A (p.Ser145=)
2	g.20006100G>A	CA345951094	MATN3	c.434C>T (p.Ser145Phe)
2	g.20006100G>C	CA345951095	MATN3	c.434C>G (p.Ser145Cys)
2	g.20006100G>T	CA345951096	MATN3	c.434C>A (p.Ser145Tyr)
2	g.20006101A>C	CA345951097	MATN3	c.433T>G (p.Ser145Ala)
2	g.20006101A>G	CA345951098	MATN3	c.433T>C (p.Ser145Pro)
2	g.20006101A>T	CA345951099	MATN3	c.433T>A (p.Ser145Thr)

Number of alleles fetched