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.20005923T>A	CA345950734	MATN3	c.611A>T (p.Asn204Ile)
2	g.20005923T>C	CA345950735	MATN3	c.611A>G (p.Asn204Ser)	gnomAD v4
2	g.20005923T>G	CA345950736	MATN3	c.611A>C (p.Asn204Thr)
2	g.20005924T>A	CA345950737	MATN3	c.610A>T (p.Asn204Tyr)
2	g.20005924T>C	CA345950738	MATN3	c.610A>G (p.Asn204Asp)
2	g.20005924T>G	CA345950739	MATN3	c.610A>C (p.Asn204His)
2	g.20005925C>A	CA425341066	MATN3	c.609G>T (p.Val203=)
2	g.20005925C>G	CA425341067	MATN3	c.609G>C (p.Val203=)
2	g.20005925C>T	CA425341068	MATN3	c.609G>A (p.Val203=)
2	g.20005926A>C	CA345950740	MATN3	c.608T>G (p.Val203Gly)
2	g.20005926A>G	CA345950742	MATN3	c.608T>C (p.Val203Ala)
2	g.20005926A>T	CA345950741	MATN3	c.608T>A (p.Val203Glu)
2	g.20005927C>A	CA345950743	MATN3	c.607G>T (p.Val203Leu)
2	g.20005927C=	CA2493007898	MATN3	c.607G= (p.Val203=)
2	g.20005927C>G	CA345950744	MATN3	c.607G>C (p.Val203Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.20005927C>T	CA345950745	MATN3	c.607G>A (p.Val203Met)	dbSNP gnomAD v2 gnomAD v4
2	g.20005928C>A	CA345950746	MATN3	c.606G>T (p.Gln202His)
2	g.20005928C>G	CA345950747	MATN3	c.606G>C (p.Gln202His)
2	g.20005928C>T	CA425341069	MATN3	c.606G>A (p.Gln202=)
2	g.20005929T>A	CA345950748	MATN3	c.605A>T (p.Gln202Leu)
2	g.20005929T>C	CA345950749	MATN3	c.605A>G (p.Gln202Arg)
2	g.20005929T>G	CA345950750	MATN3	c.605A>C (p.Gln202Pro)
2	g.20005930G>A	CA345950751	MATN3	c.604C>T (p.Gln202Ter)	gnomAD v4
2	g.20005930G>C	CA345950752	MATN3	c.604C>G (p.Gln202Glu)	gnomAD v4
2	g.20005930G>T	CA345950753	MATN3	c.604C>A (p.Gln202Lys)	gnomAD v4
2	g.20005931G>A	CA425341070	MATN3	c.603C>T (p.Asp201=)	dbSNP
2	g.20005931G>C	CA345950754	MATN3	c.603C>G (p.Asp201Glu)
2	g.20005931G=	CA2493007899	MATN3	c.603C= (p.Asp201=)
2	g.20005931G>T	CA345950755	MATN3	c.603C>A (p.Asp201Glu)
2	g.20005932T>A	CA345950758	MATN3	c.602A>T (p.Asp201Val)
2	g.20005932T>C	CA345950757	MATN3	c.602A>G (p.Asp201Gly)	dbSNP gnomAD v3 gnomAD v4
2	g.20005932T>G	CA345950756	MATN3	c.602A>C (p.Asp201Ala)
2	g.20005932T=	CA2493007900	MATN3	c.602A= (p.Asp201=)
2	g.20005933C>A	CA345950759	MATN3	c.601G>T (p.Asp201Tyr)
2	g.20005933C=	CA2493007901	MATN3	c.601G= (p.Asp201=)
2	g.20005933C>G	CA345950760	MATN3	c.601G>C (p.Asp201His)
2	g.20005933C>T	CA1543944	MATN3	c.601G>A (p.Asp201Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005934C>A	CA345950761	MATN3	c.600G>T (p.Gln200His)
2	g.20005934C>G	CA345950762	MATN3	c.600G>C (p.Gln200His)
2	g.20005934C>T	CA425341071	MATN3	c.600G>A (p.Gln200=)
2	g.20005935T>A	CA345950763	MATN3	c.599A>T (p.Gln200Leu)
2	g.20005935T>C	CA345950764	MATN3	c.599A>G (p.Gln200Arg)	gnomAD v4
2	g.20005935T>G	CA345950765	MATN3	c.599A>C (p.Gln200Pro)	dbSNP gnomAD v3 gnomAD v4
2	g.20005935T=	CA2493007902	MATN3	c.599A= (p.Gln200=)
2	g.20005936G>A	CA345950766	MATN3	c.598C>T (p.Gln200Ter)	COSMIC
2	g.20005936G>C	CA345950767	MATN3	c.598C>G (p.Gln200Glu)
2	g.20005936G>T	CA345950768	MATN3	c.598C>A (p.Gln200Lys)
2	g.20005937G>A	CA425341072	MATN3	c.597C>T (p.Pro199=)	gnomAD v4
2	g.20005937G>C	CA425341074	MATN3	c.597C>G (p.Pro199=)	dbSNP
2	g.20005937G=	CA2493007903	MATN3	c.597C= (p.Pro199=)
2	g.20005937G>T	CA425341073	MATN3	c.597C>A (p.Pro199=)	gnomAD v4
2	g.20005938G>A	CA345950769	MATN3	c.596C>T (p.Pro199Leu)
2	g.20005938G>C	CA345950770	MATN3	c.596C>G (p.Pro199Arg)
2	g.20005938G>T	CA345950771	MATN3	c.596C>A (p.Pro199His)
2	g.20005939G>A	CA345950774	MATN3	c.595C>T (p.Pro199Ser)
2	g.20005939G>C	CA345950773	MATN3	c.595C>G (p.Pro199Ala)
2	g.20005939G>T	CA345950772	MATN3	c.595C>A (p.Pro199Thr)
2	g.20005940C>A	CA345950775	MATN3	c.594G>T (p.Arg198Ser)
2	g.20005940C=	CA2493007904	MATN3	c.594G= (p.Arg198=)
2	g.20005940C>G	CA345950776	MATN3	c.594G>C (p.Arg198Ser)
2	g.20005940C>T	CA1543945	MATN3	c.594G>A (p.Arg198=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005941C>A	CA345950777	MATN3	c.593G>T (p.Arg198Met)
2	g.20005941C=	CA2493007905	MATN3	c.593G= (p.Arg198=)
2	g.20005941C>G	CA345950778	MATN3	c.593G>C (p.Arg198Thr)
2	g.20005941C>T	CA345950779	MATN3	c.593G>A (p.Arg198Lys)	dbSNP
2	g.20005942T>A	CA345950780	MATN3	c.592A>T (p.Arg198Trp)
2	g.20005942T>C	CA345950781	MATN3	c.592A>G (p.Arg198Gly)	gnomAD v4
2	g.20005942T>G	CA425341075	MATN3	c.592A>C (p.Arg198=)
2	g.20005943C>A	CA425341076	MATN3	c.591G>T (p.Gly197=)
2	g.20005943C>G	CA425341077	MATN3	c.591G>C (p.Gly197=)
2	g.20005943C>T	CA425341078	MATN3	c.591G>A (p.Gly197=)
2	g.20005944C>A	CA345950782	MATN3	c.590G>T (p.Gly197Val)
2	g.20005944C>G	CA345950783	MATN3	c.590G>C (p.Gly197Ala)
2	g.20005944C>T	CA345950784	MATN3	c.590G>A (p.Gly197Glu)
2	g.20005945C>A	CA345950785	MATN3	c.589G>T (p.Gly197Trp)
2	g.20005945C=	CA2493007906	MATN3	c.589G= (p.Gly197=)
2	g.20005945C>G	CA345950786	MATN3	c.589G>C (p.Gly197Arg)
2	g.20005945C>T	CA345950787	MATN3	c.589G>A (p.Gly197Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.20005946A>C	CA345950788	MATN3	c.588T>G (p.Asp196Glu)
2	g.20005946A>G	CA425341079	MATN3	c.588T>C (p.Asp196=)	gnomAD v4
2	g.20005946A>T	CA345950789	MATN3	c.588T>A (p.Asp196Glu)
2	g.20005947T>A	CA345950790	MATN3	c.587A>T (p.Asp196Val)	gnomAD v4
2	g.20005947T>C	CA345950791	MATN3	c.587A>G (p.Asp196Gly)
2	g.20005947T>G	CA345950792	MATN3	c.587A>C (p.Asp196Ala)	gnomAD v4
2	g.20005948C>A	CA345950793	MATN3	c.586G>T (p.Asp196Tyr)
2	g.20005948C>G	CA345950794	MATN3	c.586G>C (p.Asp196His)
2	g.20005948C>T	CA345950795	MATN3	c.586G>A (p.Asp196Asn)	COSMIC
2	g.20005949T>A	CA425341080	MATN3	c.585A>T (p.Thr195=)
2	g.20005949T>C	CA425341082	MATN3	c.585A>G (p.Thr195=)	gnomAD v4
2	g.20005949T>G	CA425341081	MATN3	c.585A>C (p.Thr195=)
2	g.20005950G>A	CA1543946	MATN3	c.584C>T (p.Thr195Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005950G>C	CA345950796	MATN3	c.584C>G (p.Thr195Arg)
2	g.20005950G=	CA2493007907	MATN3	c.584C= (p.Thr195=)
2	g.20005950G>T	CA345950797	MATN3	c.584C>A (p.Thr195Lys)	ClinVar dbSNP
2	g.20005951T>A	CA345950798	MATN3	c.583A>T (p.Thr195Ser)
2	g.20005951T>C	CA345950799	MATN3	c.583A>G (p.Thr195Ala)
2	g.20005951T>G	CA345950800	MATN3	c.583A>C (p.Thr195Pro)
2	g.20005952A=	CA2493007908	MATN3	c.582T= (p.Val194=)
2	g.20005952A>C	CA425341083	MATN3	c.582T>G (p.Val194=)	dbSNP
2	g.20005952A>G	CA425341084	MATN3	c.582T>C (p.Val194=)
2	g.20005952A>T	CA425341085	MATN3	c.582T>A (p.Val194=)
2	g.20005953A=	CA2493007909	MATN3	c.581T= (p.Val194=)
2	g.20005953A>C	CA345950801	MATN3	c.581T>G (p.Val194Gly)
2	g.20005953A>G	CA345950802	MATN3	c.581T>C (p.Val194Ala)
2	g.20005953A>T	CA254202	MATN3	c.581T>A (p.Val194Asp)	ClinVar dbSNP
2	g.20005954C>A	CA345950803	MATN3	c.580G>T (p.Val194Phe)
2	g.20005954C>G	CA345950805	MATN3	c.580G>C (p.Val194Leu)
2	g.20005954C>T	CA345950804	MATN3	c.580G>A (p.Val194Ile)	gnomAD v4
2	g.20005955A=	CA2493007910	MATN3	c.579T= (p.Ile193=)
2	g.20005955A>C	CA345950806	MATN3	c.579T>G (p.Ile193Met)
2	g.20005955A>G	CA425341086	MATN3	c.579T>C (p.Ile193=)	dbSNP gnomAD v2 gnomAD v4
2	g.20005955A>T	CA425341087	MATN3	c.579T>A (p.Ile193=)
2	g.20005956A=	CA2493007911	MATN3	c.578T= (p.Ile193=)
2	g.20005956A>C	CA345950807	MATN3	c.578T>G (p.Ile193Ser)	COSMIC
2	g.20005956A>G	CA1543947	MATN3	c.578T>C (p.Ile193Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005956A>T	CA1543948	MATN3	c.578T>A (p.Ile193Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005957T>A	CA345950808	MATN3	c.577A>T (p.Ile193Phe)
2	g.20005957T>C	CA345950809	MATN3	c.577A>G (p.Ile193Val)
2	g.20005957T>G	CA345950810	MATN3	c.577A>C (p.Ile193Leu)
2	g.20005958G>A	CA425341088	MATN3	c.576C>T (p.Ile192=)
2	g.20005958G>C	CA345950811	MATN3	c.576C>G (p.Ile192Met)
2	g.20005958G>T	CA425341089	MATN3	c.576C>A (p.Ile192=)
2	g.20005959A>C	CA345950812	MATN3	c.575T>G (p.Ile192Ser)
2	g.20005959A>G	CA345950813	MATN3	c.575T>C (p.Ile192Thr)
2	g.20005959A>T	CA345950814	MATN3	c.575T>A (p.Ile192Asn)	ClinVar dbSNP
2	g.20005960T>A	CA345950817	MATN3	c.574A>T (p.Ile192Phe)
2	g.20005960T>C	CA345950816	MATN3	c.574A>G (p.Ile192Val)	gnomAD v4
2	g.20005960T>G	CA345950815	MATN3	c.574A>C (p.Ile192Leu)
2	g.20005961G>A	CA425341090	MATN3	c.573C>T (p.Ala191=)
2	g.20005961G>C	CA425341091	MATN3	c.573C>G (p.Ala191=)
2	g.20005961G>T	CA425341092	MATN3	c.573C>A (p.Ala191=)
2	g.20005962G>A	CA345950818	MATN3	c.572C>T (p.Ala191Val)	dbSNP gnomAD v3 gnomAD v4
2	g.20005962G>C	CA345950819	MATN3	c.572C>G (p.Ala191Gly)
2	g.20005962G=	CA2493007912	MATN3	c.572C= (p.Ala191=)
2	g.20005962G>T	CA345950820	MATN3	c.572C>A (p.Ala191Asp)	ClinVar
2	g.20005963C>A	CA345950821	MATN3	c.571G>T (p.Ala191Ser)
2	g.20005963C>G	CA345950822	MATN3	c.571G>C (p.Ala191Pro)
2	g.20005963C>T	CA345950823	MATN3	c.571G>A (p.Ala191Thr)
2	g.20005964C>A	CA425341093	MATN3	c.570G>T (p.Val190=)
2	g.20005964C=	CA2493007913	MATN3	c.570G= (p.Val190=)
2	g.20005964C>G	CA425341094	MATN3	c.570G>C (p.Val190=)
2	g.20005964C>T	CA425341095	MATN3	c.570G>A (p.Val190=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005965A>C	CA345950824	MATN3	c.569T>G (p.Val190Gly)
2	g.20005965A>G	CA345950825	MATN3	c.569T>C (p.Val190Ala)
2	g.20005965A>T	CA345950826	MATN3	c.569T>A (p.Val190Glu)
2	g.20005966C>A	CA345950827	MATN3	c.568G>T (p.Val190Leu)
2	g.20005966C>G	CA345950828	MATN3	c.568G>C (p.Val190Leu)
2	g.20005966C>T	CA345950829	MATN3	c.568G>A (p.Val190Met)
2	g.20005967C>A	CA345950830	MATN3	c.567G>T (p.Lys189Asn)
2	g.20005967C=	CA2493007914	MATN3	c.567G= (p.Lys189=)
2	g.20005967C>G	CA345950831	MATN3	c.567G>C (p.Lys189Asn)
2	g.20005967C>T	CA425341096	MATN3	c.567G>A (p.Lys189=)	dbSNP
2	g.20005968T>A	CA345950832	MATN3	c.566A>T (p.Lys189Met)
2	g.20005968T>C	CA345950833	MATN3	c.566A>G (p.Lys189Arg)	gnomAD v4
2	g.20005968T>G	CA345950834	MATN3	c.566A>C (p.Lys189Thr)
2	g.20005969T>A	CA345950835	MATN3	c.565A>T (p.Lys189Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.20005969T>C	CA345950836	MATN3	c.565A>G (p.Lys189Glu)
2	g.20005969T>G	CA345950837	MATN3	c.565A>C (p.Lys189Gln)
2	g.20005969T=	CA2493007915	MATN3	c.565A= (p.Lys189=)
2	g.20005970A>C	CA425341097	MATN3	c.564T>G (p.Pro188=)
2	g.20005970A>G	CA425341098	MATN3	c.564T>C (p.Pro188=)	gnomAD v4
2	g.20005970A>T	CA425341099	MATN3	c.564T>A (p.Pro188=)
2	g.20005971G>A	CA345950838	MATN3	c.563C>T (p.Pro188Leu)
2	g.20005971G>C	CA345950839	MATN3	c.563C>G (p.Pro188Arg)
2	g.20005971G>T	CA345950840	MATN3	c.563C>A (p.Pro188His)
2	g.20005972G>A	CA345950841	MATN3	c.562C>T (p.Pro188Ser)
2	g.20005972G>C	CA345950842	MATN3	c.562C>G (p.Pro188Ala)
2	g.20005972G>T	CA345950843	MATN3	c.562C>A (p.Pro188Thr)
2	g.20005973G>A	CA425341100	MATN3	c.561C>T (p.Ile187=)
2	g.20005973G>C	CA345950844	MATN3	c.561C>G (p.Ile187Met)
2	g.20005973G>T	CA425341101	MATN3	c.561C>A (p.Ile187=)
2	g.20005974A>C	CA345950847	MATN3	c.560T>G (p.Ile187Ser)
2	g.20005974A>G	CA345950845	MATN3	c.560T>C (p.Ile187Thr)
2	g.20005974A>T	CA345950846	MATN3	c.560T>A (p.Ile187Asn)
2	g.20005975T>A	CA345950848	MATN3	c.559A>T (p.Ile187Phe)
2	g.20005975T>C	CA345950849	MATN3	c.559A>G (p.Ile187Val)	gnomAD v4
2	g.20005975T>G	CA345950850	MATN3	c.559A>C (p.Ile187Leu)
2	g.20005976G>A	CA43403780	MATN3	c.558C>T (p.Asn186=)	dbSNP gnomAD v2 gnomAD v4
2	g.20005976G>C	CA345950851	MATN3	c.558C>G (p.Asn186Lys)
2	g.20005976G=	CA2493007916	MATN3	c.558C= (p.Asn186=)
2	g.20005976G>T	CA345950852	MATN3	c.558C>A (p.Asn186Lys)
2	g.20005977T>A	CA345950853	MATN3	c.557A>T (p.Asn186Ile)
2	g.20005977T>C	CA345950854	MATN3	c.557A>G (p.Asn186Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.20005977T>G	CA345950855	MATN3	c.557A>C (p.Asn186Thr)
2	g.20005977T=	CA2493007917	MATN3	c.557A= (p.Asn186=)
2	g.20005978T>A	CA345950856	MATN3	c.556A>T (p.Asn186Tyr)
2	g.20005978T>C	CA345950857	MATN3	c.556A>G (p.Asn186Asp)
2	g.20005978T>G	CA345950858	MATN3	c.556A>C (p.Asn186His)
2	g.20005979A>C	CA425341104	MATN3	c.555T>G (p.Ser185=)
2	g.20005979A>G	CA425341103	MATN3	c.555T>C (p.Ser185=)
2	g.20005979A>T	CA425341102	MATN3	c.555T>A (p.Ser185=)
2	g.20005980G>A	CA1543950	MATN3	c.554C>T (p.Ser185Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005980G>C	CA345950859	MATN3	c.554C>G (p.Ser185Cys)
2	g.20005980G=	CA2493007918	MATN3	c.554C= (p.Ser185=)
2	g.20005980G>T	CA1543949	MATN3	c.554C>A (p.Ser185Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005981A=	CA2493007919	MATN3	c.553T= (p.Ser185=)
2	g.20005981A>C	CA345950860	MATN3	c.553T>G (p.Ser185Ala)
2	g.20005981A>G	CA1543951	MATN3	c.553T>C (p.Ser185Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005981A>T	CA345950861	MATN3	c.553T>A (p.Ser185Thr)
2	g.20005982A>C	CA425341105	MATN3	c.552T>G (p.Ser184=)
2	g.20005982A>G	CA425341106	MATN3	c.552T>C (p.Ser184=)
2	g.20005982A>T	CA425341107	MATN3	c.552T>A (p.Ser184=)
2	g.20005983G>A	CA345950862	MATN3	c.551C>T (p.Ser184Phe)
2	g.20005983G>C	CA345950864	MATN3	c.551C>G (p.Ser184Cys)
2	g.20005983G=	CA2493007920	MATN3	c.551C= (p.Ser184=)
2	g.20005983G>T	CA345950863	MATN3	c.551C>A (p.Ser184Tyr)	dbSNP
2	g.20005984del	CA2576684694	MATN3	c.550del (p.Ser184LeufsTer20)
2	g.20005984A=	CA2493007921	MATN3	c.550T= (p.Ser184=)
2	g.20005984A>C	CA345950865	MATN3	c.550T>G (p.Ser184Ala)
2	g.20005984A>G	CA43403824	MATN3	c.550T>C (p.Ser184Pro)	dbSNP gnomAD v4
2	g.20005984A>T	CA345950866	MATN3	c.550T>A (p.Ser184Thr)
2	g.20005985G>A	CA425341108	MATN3	c.549C>T (p.Pro183=)
2	g.20005985G>C	CA425341109	MATN3	c.549C>G (p.Pro183=)
2	g.20005985G>T	CA425341110	MATN3	c.549C>A (p.Pro183=)
2	g.20005986G>A	CA345950867	MATN3	c.548C>T (p.Pro183Leu)	dbSNP
2	g.20005986G>C	CA345950868	MATN3	c.548C>G (p.Pro183Arg)
2	g.20005986G=	CA2493007922	MATN3	c.548C= (p.Pro183=)
2	g.20005986G>T	CA345950869	MATN3	c.548C>A (p.Pro183His)
2	g.20005986_20005987insT	CA2658010982	MATN3	c.547_548insA (p.Pro183HisfsTer4)	gnomAD v4
2	g.20005987G>A	CA43403830	MATN3	c.547C>T (p.Pro183Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.20005987G>C	CA345950870	MATN3	c.547C>G (p.Pro183Ala)
2	g.20005987G=	CA2493007923	MATN3	c.547C= (p.Pro183=)
2	g.20005987G>T	CA345950871	MATN3	c.547C>A (p.Pro183Thr)
2	g.20005988C>A	CA345950872	MATN3	c.546G>T (p.Glu182Asp)
2	g.20005988C=	CA2493007924	MATN3	c.546G= (p.Glu182=)
2	g.20005988C>G	CA345950873	MATN3	c.546G>C (p.Glu182Asp)	gnomAD v4
2	g.20005988C>T	CA425341111	MATN3	c.546G>A (p.Glu182=)	dbSNP gnomAD v2 gnomAD v4
2	g.20005989T>A	CA345950874	MATN3	c.545A>T (p.Glu182Val)
2	g.20005989T>C	CA345950875	MATN3	c.545A>G (p.Glu182Gly)
2	g.20005989T>G	CA345950876	MATN3	c.545A>C (p.Glu182Ala)
2	g.20005990C>A	CA345950879	MATN3	c.544G>T (p.Glu182Ter)
2	g.20005990C=	CA2493007925	MATN3	c.544G= (p.Glu182=)
2	g.20005990C>G	CA345950877	MATN3	c.544G>C (p.Glu182Gln)	dbSNP gnomAD v2 gnomAD v4
2	g.20005990C>T	CA345950878	MATN3	c.544G>A (p.Glu182Lys)
2	g.20005991T>A	CA425341112	MATN3	c.543A>T (p.Arg181=)
2	g.20005991T>C	CA425341113	MATN3	c.543A>G (p.Arg181=)	gnomAD v4
2	g.20005991T>G	CA425341114	MATN3	c.543A>C (p.Arg181=)
2	g.20005992C>A	CA345950880	MATN3	c.542G>T (p.Arg181Leu)
2	g.20005992C=	CA2493007926	MATN3	c.542G= (p.Arg181=)
2	g.20005992C>G	CA345950881	MATN3	c.542G>C (p.Arg181Pro)
2	g.20005992C>T	CA1543952	MATN3	c.542G>A (p.Arg181Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005993G>A	CA1543954	MATN3	c.541C>T (p.Arg181Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005993G>C	CA1543953	MATN3	c.541C>G (p.Arg181Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005993G=	CA2493007927	MATN3	c.541C= (p.Arg181=)
2	g.20005993G>T	CA425341115	MATN3	c.541C>A (p.Arg181=)
2	g.20005994A>C	CA425341116	MATN3	c.540T>G (p.Ala180=)
2	g.20005994A>G	CA425341117	MATN3	c.540T>C (p.Ala180=)
2	g.20005994A>T	CA425341118	MATN3	c.540T>A (p.Ala180=)
2	g.20005995G>A	CA345950882	MATN3	c.539C>T (p.Ala180Val)
2	g.20005995G>C	CA345950883	MATN3	c.539C>G (p.Ala180Gly)
2	g.20005995G>T	CA345950884	MATN3	c.539C>A (p.Ala180Asp)
2	g.20005996C>A	CA345950885	MATN3	c.538G>T (p.Ala180Ser)	gnomAD v4
2	g.20005996C>G	CA345950886	MATN3	c.538G>C (p.Ala180Pro)
2	g.20005996C>T	CA345950887	MATN3	c.538G>A (p.Ala180Thr)
2	g.20005999del	CA2658010993	MATN3	c.538del (p.Ala180LeufsTer24)	gnomAD v4
2	g.20005997C>A	CA425341119	MATN3	c.537G>T (p.Gly179=)
2	g.20005997C=	CA2493007928	MATN3	c.537G= (p.Gly179=)
2	g.20005997C>G	CA425341120	MATN3	c.537G>C (p.Gly179=)
2	g.20005997C>T	CA1543955	MATN3	c.537G>A (p.Gly179=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005998C>A	CA345950888	MATN3	c.536G>T (p.Gly179Val)
2	g.20005998C=	CA2493007929	MATN3	c.536G= (p.Gly179=)
2	g.20005998C>G	CA345950890	MATN3	c.536G>C (p.Gly179Ala)
2	g.20005998C>T	CA345950889	MATN3	c.536G>A (p.Gly179Glu)	dbSNP gnomAD v4
2	g.20005999C>A	CA345950891	MATN3	c.535G>T (p.Gly179Trp)
2	g.20005999C=	CA2493007930	MATN3	c.535G= (p.Gly179=)
2	g.20005999C>G	CA345950892	MATN3	c.535G>C (p.Gly179Arg)
2	g.20005999C>T	CA345950893	MATN3	c.535G>A (p.Gly179Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.20006000T>A	CA425341123	MATN3	c.534A>T (p.Ala178=)
2	g.20006000T>C	CA425341122	MATN3	c.534A>G (p.Ala178=)	dbSNP gnomAD v3 gnomAD v4
2	g.20006000T>G	CA425341121	MATN3	c.534A>C (p.Ala178=)
2	g.20006000T=	CA2493007931	MATN3	c.534A= (p.Ala178=)
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

Number of alleles fetched