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.20005674_20005676delinsCTT	CA2493007786	MATN3	c.790+68_790+70delinsAAG (n.790+68_790+70delinsAAG)
2	g.20005677_20005678del	CA43403391	MATN3	c.790+68_790+69del (n.790+68_790+69del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005677T>A	CA2658010888	MATN3	c.790+67A>T (n.790+67A>T)	gnomAD v4
2	g.20005677T>C	CA2658010886	MATN3	c.790+67A>G (n.790+67A>G)	gnomAD v4
2	g.20005677T>G	CA2658010887	MATN3	c.790+67A>C (n.790+67A>C)	gnomAD v4
2	g.20005678T>G	CA2658010889	MATN3	c.790+66A>C (n.790+66A>C)	gnomAD v4
2	g.20005679C>A	CA2658010890	MATN3	c.790+65G>T (n.790+65G>T)	gnomAD v4
2	g.20005679C>T	CA2576684682	MATN3	c.790+65G>A (n.790+65G>A)	gnomAD v4
2	g.20005681C>A	CA2658010891	MATN3	c.790+63G>T (n.790+63G>T)	gnomAD v4
2	g.20005681C>G	CA2658010892	MATN3	c.790+63G>C (n.790+63G>C)	gnomAD v4
2	g.20005681C>T	CA2576684683	MATN3	c.790+63G>A (n.790+63G>A)	gnomAD v4
2	g.20005682T>A	CA2576684684	MATN3	c.790+62A>T (n.790+62A>T)	gnomAD v4
2	g.20005682T>C	CA2658010893	MATN3	c.790+62A>G (n.790+62A>G)	gnomAD v4
2	g.20005683G>C	CA43403395	MATN3	c.790+61C>G (n.790+61C>G)	dbSNP gnomAD v4
2	g.20005683G=	CA2493007787	MATN3	c.790+61C= (n.790+61C=)
2	g.20005683G>T	CA2658010895	MATN3	c.790+61C>A (n.790+61C>A)	gnomAD v4
2	g.20005685del	CA2658010894	MATN3	c.790+61del (n.790+61del)	gnomAD v4
2	g.20005684G>A	CA2658010896	MATN3	c.790+60C>T (n.790+60C>T)	gnomAD v4
2	g.20005684G>T	CA2658010897	MATN3	c.790+60C>A (n.790+60C>A)	gnomAD v4
2	g.20005685G>A	CA2658010898	MATN3	c.790+59C>T (n.790+59C>T)	gnomAD v4
2	g.20005685G>T	CA2658010899	MATN3	c.790+59C>A (n.790+59C>A)	gnomAD v4
2	g.20005686T>A	CA2658010900	MATN3	c.790+58A>T (n.790+58A>T)	gnomAD v4
2	g.20005686T>G	CA2658010901	MATN3	c.790+58A>C (n.790+58A>C)	gnomAD v4
2	g.20005687A>C	CA2658010902	MATN3	c.790+57T>G (n.790+57T>G)	gnomAD v4
2	g.20005687A>T	CA2658010903	MATN3	c.790+57T>A (n.790+57T>A)	gnomAD v4
2	g.20005688C>A	CA2658010904	MATN3	c.790+56G>T (n.790+56G>T)	gnomAD v4
2	g.20005688C>T	CA2576684685	MATN3	c.790+56G>A (n.790+56G>A)	gnomAD v4
2	g.20005689A>C	CA2749074458	MATN3	c.790+55T>G (n.790+55T>G)
2	g.20005689A>T	CA2658010905	MATN3	c.790+55T>A (n.790+55T>A)	gnomAD v4
2	g.20005690C>A	CA2658010906	MATN3	c.790+54G>T (n.790+54G>T)	gnomAD v4
2	g.20005691A=	CA2493007788	MATN3	c.790+53T= (n.790+53T=)
2	g.20005691A>C	CA1028161362	MATN3	c.790+53T>G (n.790+53T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.20005691A>G	CA1028161364	MATN3	c.790+53T>C (n.790+53T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.20005692A=	CA2493007789	MATN3	c.790+52T= (n.790+52T=)
2	g.20005692A>G	CA530853131	MATN3	c.790+52T>C (n.790+52T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.20005693_20005694insATAAC	CA2658010907	MATN3	c.790+50_790+51insGTTAT (n.790+50_790+51insGTTAT)	gnomAD v4
2	g.20005694G>A	CA1543895	MATN3	c.790+50C>T (n.790+50C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005694G=	CA2493007790	MATN3	c.790+50C= (n.790+50C=)
2	g.20005694G>T	CA1543896	MATN3	c.790+50C>A (n.790+50C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005696C>A	CA2658010908	MATN3	c.790+48G>T (n.790+48G>T)	gnomAD v4
2	g.20005696C>G	CA2658010910	MATN3	c.790+48G>C (n.790+48G>C)	gnomAD v4
2	g.20005696C>T	CA2658010909	MATN3	c.790+48G>A (n.790+48G>A)	gnomAD v4
2	g.20005697T>A	CA2658010911	MATN3	c.790+47A>T (n.790+47A>T)	gnomAD v4
2	g.20005697T>C	CA2658010912	MATN3	c.790+47A>G (n.790+47A>G)	gnomAD v4
2	g.20005698G>T	CA2576684686	MATN3	c.790+46C>A (n.790+46C>A)	gnomAD v4
2	g.20005699A>C	CA2658010913	MATN3	c.790+45T>G (n.790+45T>G)	gnomAD v4
2	g.20005699A>G	CA2658010914	MATN3	c.790+45T>C (n.790+45T>C)	gnomAD v4
2	g.20005702A=	CA2493007791	MATN3	c.790+42T= (n.790+42T=)
2	g.20005702A>G	CA43403451	MATN3	c.790+42T>C (n.790+42T>C)	dbSNP gnomAD v4
2	g.20005703T>A	CA763243850	MATN3	c.790+41A>T (n.790+41A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.20005703T=	CA2493007792	MATN3	c.790+41A= (n.790+41A=)
2	g.20005704A>G	CA2658010915	MATN3	c.790+40T>C (n.790+40T>C)	gnomAD v4
2	g.20005706C>A	CA2658010916	MATN3	c.790+38G>T (n.790+38G>T)	gnomAD v4
2	g.20005706C=	CA2493007793	MATN3	c.790+38G= (n.790+38G=)
2	g.20005706C>T	CA1543897	MATN3	c.790+38G>A (n.790+38G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005707A>G	CA2658010917	MATN3	c.790+37T>C (n.790+37T>C)	gnomAD v4
2	g.20005708T>C	CA1543898	MATN3	c.790+36A>G (n.790+36A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005708T>G	CA2658010918	MATN3	c.790+36A>C (n.790+36A>C)	gnomAD v4
2	g.20005708T=	CA2493007794	MATN3	c.790+36A= (n.790+36A=)
2	g.20005709C>A	CA2493007796	MATN3	c.790+35G>T (n.790+35G>T)	dbSNP gnomAD v4
2	g.20005709C=	CA2493007795	MATN3	c.790+35G= (n.790+35G=)
2	g.20005709C>G	CA763243857	MATN3	c.790+35G>C (n.790+35G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.20005709C>T	CA2576684687	MATN3	c.790+35G>A (n.790+35G>A)
2	g.20005710C>A	CA2658010919	MATN3	c.790+34G>T (n.790+34G>T)	gnomAD v4
2	g.20005710C>T	CA2658010920	MATN3	c.790+34G>A (n.790+34G>A)	gnomAD v4
2	g.20005711T>C	CA2658010921	MATN3	c.790+33A>G (n.790+33A>G)	gnomAD v4
2	g.20005712T>A	CA2576684688	MATN3	c.790+32A>T (n.790+32A>T)
2	g.20005712T>C	CA2658010922	MATN3	c.790+32A>G (n.790+32A>G)	gnomAD v4
2	g.20005714C>A	CA2658010923	MATN3	c.790+30G>T (n.790+30G>T)	gnomAD v4
2	g.20005714C>T	CA2658010924	MATN3	c.790+30G>A (n.790+30G>A)	gnomAD v4
2	g.20005715T>C	CA2749074459	MATN3	c.790+29A>G (n.790+29A>G)
2	g.20005716A>T	CA2658010925	MATN3	c.790+28T>A (n.790+28T>A)	gnomAD v4
2	g.20005717G>A	CA1543899	MATN3	c.790+27C>T (n.790+27C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005717G=	CA2493007797	MATN3	c.790+27C= (n.790+27C=)
2	g.20005717G>T	CA2658010926	MATN3	c.790+27C>A (n.790+27C>A)	gnomAD v4
2	g.20005717_20005718delinsGT	CA2493007798	MATN3	c.790+26_790+27delinsAC (n.790+26_790+27delinsAC)
2	g.20005718T>A	CA1543900	MATN3	c.790+26A>T (n.790+26A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005718T>C	CA1543901	MATN3	c.790+26A>G (n.790+26A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005718T>G	CA1543902	MATN3	c.790+26A>C (n.790+26A>C)	dbSNP ExAC gnomAD v4
2	g.20005718T=	CA2493007799	MATN3	c.790+26A= (n.790+26A=)
2	g.20005719del	CA530853132	MATN3	c.790+26del (n.790+26del)	dbSNP gnomAD v2 gnomAD v4
2	g.20005719T>C	CA2576684689	MATN3	c.790+25A>G (n.790+25A>G)
2	g.20005720G>T	CA2576684690	MATN3	c.790+24C>A (n.790+24C>A)	gnomAD v4
2	g.20005721G>A	CA2658010927	MATN3	c.790+23C>T (n.790+23C>T)	gnomAD v4
2	g.20005721G>C	CA2658010928	MATN3	c.790+23C>G (n.790+23C>G)	gnomAD v4
2	g.20005721G>T	CA2658010929	MATN3	c.790+23C>A (n.790+23C>A)	gnomAD v4
2	g.20005722A>C	CA2658010930	MATN3	c.790+22T>G (n.790+22T>G)	gnomAD v4
2	g.20005722A>G	CA2658010931	MATN3	c.790+22T>C (n.790+22T>C)	gnomAD v4
2	g.20005724G>A	CA2658010932	MATN3	c.790+20C>T (n.790+20C>T)	gnomAD v4
2	g.20005724G=	CA2493007800	MATN3	c.790+20C= (n.790+20C=)
2	g.20005724G>T	CA1543903	MATN3	c.790+20C>A (n.790+20C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.20005725C>A	CA2658010933	MATN3	c.790+19G>T (n.790+19G>T)	gnomAD v4
2	g.20005725C>G	CA2658010934	MATN3	c.790+19G>C (n.790+19G>C)	gnomAD v4
2	g.20005726A>G	CA2658010935	MATN3	c.790+18T>C (n.790+18T>C)	gnomAD v4
2	g.20005726A>T	CA2658010936	MATN3	c.790+18T>A (n.790+18T>A)	gnomAD v4
2	g.20005727A=	CA2493007801	MATN3	c.790+17T= (n.790+17T=)
2	g.20005728A>G	CA2658010937	MATN3	c.790+16T>C (n.790+16T>C)	gnomAD v4
2	g.20005729_20005730dup	CA763243869	MATN3	c.790+15_790+16dup (n.790+15_790+16dup)	dbSNP gnomAD v3 gnomAD v4
2	g.20005728_20005732delinsAGACT	CA2493007802	MATN3	c.790+12_790+16delinsAGTCT (n.790+12_790+16delinsAGTCT)
2	g.20005729G>T	CA2658010938	MATN3	c.790+15C>A (n.790+15C>A)	gnomAD v4
2	g.20005732_20005735del	CA763243874	MATN3	c.790+12_790+15del (n.790+12_790+15del)	dbSNP
2	g.20005730A=	CA2493007803	MATN3	c.790+14T= (n.790+14T=)
2	g.20005730A>C	CA763243875	MATN3	c.790+14T>G (n.790+14T>G)	dbSNP
2	g.20005731C>A	CA2658010939	MATN3	c.790+13G>T (n.790+13G>T)	gnomAD v4
2	g.20005732T>G	CA530853133	MATN3	c.790+12A>C (n.790+12A>C)	dbSNP gnomAD v2 gnomAD v4
2	g.20005732T=	CA2493007804	MATN3	c.790+12A= (n.790+12A=)
2	g.20005733G>A	CA2493007806	MATN3	c.790+11C>T (n.790+11C>T)	ClinVar dbSNP gnomAD v4
2	g.20005733G=	CA2493007805	MATN3	c.790+11C= (n.790+11C=)
2	g.20005733G>T	CA2658010940	MATN3	c.790+11C>A (n.790+11C>A)	gnomAD v4
2	g.20005734A>C	CA2658010941	MATN3	c.790+10T>G (n.790+10T>G)	gnomAD v4
2	g.20005734A>G	CA2576684691	MATN3	c.790+10T>C (n.790+10T>C)
2	g.20005734A>T	CA2576684692	MATN3	c.790+10T>A (n.790+10T>A)
2	g.20005735C>A	CA2658010942	MATN3	c.790+9G>T (n.790+9G>T)	gnomAD v4
2	g.20005735C>T	CA2658010943	MATN3	c.790+9G>A (n.790+9G>A)	gnomAD v4
2	g.20005736C>A	CA1543904	MATN3	c.790+8G>T (n.790+8G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005736C=	CA2493007807	MATN3	c.790+8G= (n.790+8G=)
2	g.20005738A=	CA2493007808	MATN3	c.790+6T= (n.790+6T=)
2	g.20005738A>C	CA530853134	MATN3	c.790+6T>G (n.790+6T>G)	dbSNP gnomAD v2
2	g.20005738A>G	CA2493007809	MATN3	c.790+6T>C (n.790+6T>C)	dbSNP
2	g.20005742A>C	CA345950343	MATN3	c.790+2T>G (n.790+2T>G)
2	g.20005742A>G	CA345950344	MATN3	c.790+2T>C (n.790+2T>C)	gnomAD v4
2	g.20005742A>T	CA345950345	MATN3	c.790+2T>A (n.790+2T>A)
2	g.20005743C>A	CA1543906	MATN3	c.790+1G>T (n.790+1G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005743C=	CA2493007810	MATN3	c.790+1G= (n.790+1G=)
2	g.20005743C>G	CA345950347	MATN3	c.790+1G>C (n.790+1G>C)
2	g.20005743C>T	CA345950346	MATN3	c.790+1G>A (n.790+1G>A)	gnomAD v4
2	g.20005744C>A	CA345950348	MATN3	c.790G>T (p.Ala264Ser)
2	g.20005744C>G	CA345950349	MATN3	c.790G>C (p.Ala264Pro)
2	g.20005744C>T	CA345950350	MATN3	c.790G>A (p.Ala264Thr)	gnomAD v4
2	g.20005746_20005747dup	CA1543905	MATN3	c.789_790dup (p.Ala264ValfsTer?) c.789_790dup (p.Ala264ValfsTer18)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005745A>C	CA345950351	MATN3	c.789T>G (p.Cys263Trp)
2	g.20005745A>G	CA425117075	MATN3	c.789T>C (p.Cys263=)
2	g.20005745A>T	CA345950352	MATN3	c.789T>A (p.Cys263Ter)
2	g.20005746C>A	CA345950353	MATN3	c.788G>T (p.Cys263Phe)	ClinVar
2	g.20005746C>G	CA345950354	MATN3	c.788G>C (p.Cys263Ser)
2	g.20005746C>T	CA345950355	MATN3	c.788G>A (p.Cys263Tyr)	gnomAD v4
2	g.20005747del	CA2593714669	MATN3	c.787del (p.Cys263ValfsTer?) c.787del (p.Cys263ValfsTer18)	gnomAD v3 gnomAD v4
2	g.20005747A>C	CA345950356	MATN3	c.787T>G (p.Cys263Gly)
2	g.20005747A>G	CA345950357	MATN3	c.787T>C (p.Cys263Arg)
2	g.20005747A>T	CA345950358	MATN3	c.787T>A (p.Cys263Ser)	gnomAD v4
2	g.20005748G>A	CA425117079	MATN3	c.786C>T (p.Phe262=)	gnomAD v4
2	g.20005748G>C	CA345950359	MATN3	c.786C>G (p.Phe262Leu)
2	g.20005748G>T	CA345950360	MATN3	c.786C>A (p.Phe262Leu)
2	g.20005749A=	CA2493007811	MATN3	c.785T= (p.Phe262=)
2	g.20005749A>C	CA345950361	MATN3	c.785T>G (p.Phe262Cys)
2	g.20005749A>G	CA1543907	MATN3	c.785T>C (p.Phe262Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005749A>T	CA345950362	MATN3	c.785T>A (p.Phe262Tyr)
2	g.20005750A=	CA2493007812	MATN3	c.784T= (p.Phe262=)
2	g.20005750A>C	CA345950363	MATN3	c.784T>G (p.Phe262Val)	gnomAD v4
2	g.20005750A>G	CA345950364	MATN3	c.784T>C (p.Phe262Leu)	ClinVar dbSNP gnomAD v4
2	g.20005750A>T	CA345950365	MATN3	c.784T>A (p.Phe262Ile)
2	g.20005751G>A	CA425117081	MATN3	c.783C>T (p.Thr261=)
2	g.20005751G>C	CA425117082	MATN3	c.783C>G (p.Thr261=)
2	g.20005751G>T	CA425117083	MATN3	c.783C>A (p.Thr261=)
2	g.20005752G>A	CA345950366	MATN3	c.782C>T (p.Thr261Ile)	gnomAD v4 COSMIC
2	g.20005752G>C	CA345950367	MATN3	c.782C>G (p.Thr261Ser)
2	g.20005752G>T	CA345950368	MATN3	c.782C>A (p.Thr261Asn)
2	g.20005753T>A	CA345950369	MATN3	c.781A>T (p.Thr261Ser)
2	g.20005753T>C	CA345950370	MATN3	c.781A>G (p.Thr261Ala)
2	g.20005753T>G	CA345950371	MATN3	c.781A>C (p.Thr261Pro)
2	g.20005754T>A	CA345950372	MATN3	c.780A>T (p.Glu260Asp)
2	g.20005754T>C	CA425117084	MATN3	c.780A>G (p.Glu260=)	dbSNP gnomAD v2
2	g.20005754T>G	CA345950373	MATN3	c.780A>C (p.Glu260Asp)
2	g.20005754T=	CA2493007813	MATN3	c.780A= (p.Glu260=)
2	g.20005755T>A	CA345950376	MATN3	c.779A>T (p.Glu260Val)
2	g.20005755T>C	CA345950375	MATN3	c.779A>G (p.Glu260Gly)
2	g.20005755T>G	CA345950374	MATN3	c.779A>C (p.Glu260Ala)
2	g.20005756C>A	CA345950377	MATN3	c.778G>T (p.Glu260Ter)	gnomAD v4
2	g.20005756C=	CA2493007814	MATN3	c.778G= (p.Glu260=)
2	g.20005756C>G	CA345950378	MATN3	c.778G>C (p.Glu260Gln)	dbSNP
2	g.20005756C>T	CA345950379	MATN3	c.778G>A (p.Glu260Lys)	COSMIC
2	g.20005757C>A	CA345950380	MATN3	c.777G>T (p.Gln259His)	gnomAD v4
2	g.20005757C>G	CA345950381	MATN3	c.777G>C (p.Gln259His)
2	g.20005757C>T	CA425117086	MATN3	c.777G>A (p.Gln259=)
2	g.20005758T>A	CA345950382	MATN3	c.776A>T (p.Gln259Leu)
2	g.20005758T>C	CA345950383	MATN3	c.776A>G (p.Gln259Arg)
2	g.20005758T>G	CA345950384	MATN3	c.776A>C (p.Gln259Pro)
2	g.20005759G>A	CA345950385	MATN3	c.775C>T (p.Gln259Ter)
2	g.20005759G>C	CA345950386	MATN3	c.775C>G (p.Gln259Glu)
2	g.20005759G>T	CA345950387	MATN3	c.775C>A (p.Gln259Lys)
2	g.20005760G>A	CA425117087	MATN3	c.774C>T (p.Phe258=)
2	g.20005760G>C	CA345950388	MATN3	c.774C>G (p.Phe258Leu)
2	g.20005760G>T	CA345950389	MATN3	c.774C>A (p.Phe258Leu)
2	g.20005761A>C	CA345950391	MATN3	c.773T>G (p.Phe258Cys)
2	g.20005761A>G	CA345950392	MATN3	c.773T>C (p.Phe258Ser)
2	g.20005761A>T	CA345950390	MATN3	c.773T>A (p.Phe258Tyr)
2	g.20005762A=	CA2493007815	MATN3	c.772T= (p.Phe258=)
2	g.20005762A>C	CA1543908	MATN3	c.772T>G (p.Phe258Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005762A>G	CA345950393	MATN3	c.772T>C (p.Phe258Leu)
2	g.20005762A>T	CA345950394	MATN3	c.772T>A (p.Phe258Ile)
2	g.20005763T>A	CA345950395	MATN3	c.771A>T (p.Arg257Ser)
2	g.20005763T>C	CA425340805	MATN3	c.771A>G (p.Arg257=)
2	g.20005763T>G	CA345950396	MATN3	c.771A>C (p.Arg257Ser)
2	g.20005764C>A	CA345950397	MATN3	c.770G>T (p.Arg257Ile)
2	g.20005764C>G	CA345950399	MATN3	c.770G>C (p.Arg257Thr)
2	g.20005764C>T	CA345950398	MATN3	c.770G>A (p.Arg257Lys)
2	g.20005765T>A	CA345950400	MATN3	c.769A>T (p.Arg257Ter)
2	g.20005765T>C	CA345950401	MATN3	c.769A>G (p.Arg257Gly)	dbSNP
2	g.20005765T>G	CA425340808	MATN3	c.769A>C (p.Arg257=)
2	g.20005765T=	CA2493007816	MATN3	c.769A= (p.Arg257=)
2	g.20005766A=	CA2493007817	MATN3	c.768T= (p.Ser256=)
2	g.20005766A>C	CA1543909	MATN3	c.768T>G (p.Ser256=)	dbSNP ExAC gnomAD v4
2	g.20005766A>G	CA425340811	MATN3	c.768T>C (p.Ser256=)
2	g.20005766A>T	CA425340810	MATN3	c.768T>A (p.Ser256=)
2	g.20005767G>A	CA345950404	MATN3	c.767C>T (p.Ser256Phe)
2	g.20005767G>C	CA345950402	MATN3	c.767C>G (p.Ser256Cys)
2	g.20005767G>T	CA345950403	MATN3	c.767C>A (p.Ser256Tyr)
2	g.20005768A>C	CA345950405	MATN3	c.766T>G (p.Ser256Ala)
2	g.20005768A>G	CA345950406	MATN3	c.766T>C (p.Ser256Pro)
2	g.20005768A>T	CA345950407	MATN3	c.766T>A (p.Ser256Thr)
2	g.20005769G>A	CA425340815	MATN3	c.765C>T (p.Ser255=)	dbSNP gnomAD v4
2	g.20005769G>C	CA425340816	MATN3	c.765C>G (p.Ser255=)
2	g.20005769G=	CA2493007818	MATN3	c.765C= (p.Ser255=)
2	g.20005769G>T	CA425340817	MATN3	c.765C>A (p.Ser255=)
2	g.20005770G>A	CA345950408	MATN3	c.764C>T (p.Ser255Phe)	dbSNP gnomAD v2
2	g.20005770G>C	CA345950409	MATN3	c.764C>G (p.Ser255Cys)
2	g.20005770G=	CA2493007819	MATN3	c.764C= (p.Ser255=)
2	g.20005770G>T	CA345950410	MATN3	c.764C>A (p.Ser255Tyr)
2	g.20005771A>C	CA345950411	MATN3	c.763T>G (p.Ser255Ala)	gnomAD v4
2	g.20005771A>G	CA345950412	MATN3	c.763T>C (p.Ser255Pro)
2	g.20005771A>T	CA345950413	MATN3	c.763T>A (p.Ser255Thr)
2	g.20005772A=	CA2493007820	MATN3	c.762T= (p.Leu254=)
2	g.20005772A>C	CA425340821	MATN3	c.762T>G (p.Leu254=)	ClinVar dbSNP
2	g.20005772A>G	CA425340822	MATN3	c.762T>C (p.Leu254=)	gnomAD v4
2	g.20005772A>T	CA425340823	MATN3	c.762T>A (p.Leu254=)
2	g.20005773A>C	CA345950414	MATN3	c.761T>G (p.Leu254Arg)	gnomAD v4
2	g.20005773A>G	CA345950415	MATN3	c.761T>C (p.Leu254Pro)	gnomAD v4
2	g.20005773A>T	CA345950416	MATN3	c.761T>A (p.Leu254His)
2	g.20005774G>A	CA345950419	MATN3	c.760C>T (p.Leu254Phe)
2	g.20005774G>C	CA345950418	MATN3	c.760C>G (p.Leu254Val)
2	g.20005774G=	CA2493007821	MATN3	c.760C= (p.Leu254=)
2	g.20005774G>T	CA345950417	MATN3	c.760C>A (p.Leu254Ile)	dbSNP gnomAD v2 gnomAD v4
2	g.20005775T>A	CA345950420	MATN3	c.759A>T (p.Lys253Asn)
2	g.20005775T>C	CA1543910	MATN3	c.759A>G (p.Lys253=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.20005775T>G	CA345950421	MATN3	c.759A>C (p.Lys253Asn)
2	g.20005775T=	CA2493007823	MATN3	c.759A= (p.Lys253=)
2	g.20005777dup	CA2493007822	MATN3	c.759dup (p.Leu254ThrfsTer4)	dbSNP
2	g.20005776T>A	CA345950422	MATN3	c.758A>T (p.Lys253Ile)
2	g.20005776T>C	CA345950423	MATN3	c.758A>G (p.Lys253Arg)
2	g.20005776T>G	CA345950424	MATN3	c.758A>C (p.Lys253Thr)

Number of alleles fetched