Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.61590487C>G	CA2639152766	NACA2	c.46G>C (n.46G>C)	gnomAD v4
17	g.61590487C>T	CA2639152765	NACA2	c.46G>A (n.46G>A)	gnomAD v4
17	g.61590489G>C	CA2639152767	NACA2	c.44C>G (n.44C>G)	gnomAD v4
17	g.61590489G>T	CA2639152768	NACA2	c.44C>A (n.44C>A)	gnomAD v4
17	g.61590490C>T	CA2639152769	NACA2	c.43G>A (n.43G>A)	gnomAD v4
17	g.61590493T>C	CA2639152770	NACA2	c.40A>G (n.40A>G)	gnomAD v4
17	g.61590495A=	CA2269090851	NACA2	c.38T= (n.38T=)
17	g.61590495A>T	CA627153527	NACA2	c.38T>A (n.38T>A)	dbSNP gnomAD v2 gnomAD v4
17	g.61590496C>A	CA2554465056	NACA2	c.37G>T (n.37G>T)
17	g.61590496C>T	CA2639152771	NACA2	c.37G>A (n.37G>A)	gnomAD v4
17	g.61590498C>A	CA2639152772	NACA2	c.35G>T (n.35G>T)	gnomAD v4
17	g.61590498C=	CA2269090852	NACA2	c.35G= (n.35G=)
17	g.61590498C>T	CA2269090853	NACA2	c.35G>A (n.35G>A)	dbSNP
17	g.61590499C>T	CA2639152773	NACA2	c.34G>A (n.34G>A)	gnomAD v4
17	g.61590501T>C	CA292793813	NACA2	c.32A>G (n.32A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590501T=	CA2269090854	NACA2	c.32A= (n.32A=)
17	g.61590502T>C	CA2639152774	NACA2	c.31A>G (n.31A>G)	gnomAD v4
17	g.61590502T>G	CA2639152775	NACA2	c.31A>C (n.31A>C)	gnomAD v4
17	g.61590506A>T	CA2576344937	NACA2	c.27T>A (n.27T>A)
17	g.61590507C>A	CA2576344938	NACA2	c.26G>T (n.26G>T)
17	g.61590509C=	CA2269090856	NACA2	c.24G= (n.24G=)
17	g.61590509C>T	CA627153528	NACA2	c.24G>A (n.24G>A)	dbSNP gnomAD v2 gnomAD v4
17	g.61590509_61590525delinsCCAAAAAAAGTTGCTTT	CA2269090855	NACA2	c.8_24delinsAAAGCAACTTTTTTTGG (n.8_24delinsAAAGCAACTTTTTTTGG)
17	g.61590510_61590511delinsCA	CA2269090857	NACA2	c.22_23delinsTG (n.22_23delinsTG)
17	g.61590512_61590527del	CA8690150	NACA2	c.8_23del (n.8_23del)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.61590517dup	CA8690151	NACA2	c.22dup (n.22dup)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.61590517del	CA985260641	NACA2	c.22del (n.22del)	dbSNP gnomAD v3 gnomAD v4
17	g.61590512A>T	CA2639152776	NACA2	c.21T>A (n.21T>A)	gnomAD v4
17	g.61590516A=	CA2269090858	NACA2	c.17T= (n.17T=)
17	g.61590516A>C	CA2269090859	NACA2	c.17T>G (n.17T>G)	dbSNP
17	g.61590517A=	CA2269090860	NACA2	c.16T= (n.16T=)
17	g.61590517A>T	CA773806449	NACA2	c.16T>A (n.16T>A)	dbSNP gnomAD v4
17	g.61590521G>A	CA2269090863	NACA2	c.12C>T (n.12C>T)	dbSNP gnomAD v4
17	g.61590521G=	CA2269090862	NACA2	c.12C= (n.12C=)
17	g.61590521_61590522delinsGC	CA2269090861	NACA2	c.11_12delinsGC (n.11_12delinsGC)
17	g.61590522del	CA627153529	NACA2	c.11del (n.11del)	dbSNP gnomAD v2 gnomAD v4
17	g.61590522C>T	CA2639152777	NACA2	c.11G>A (n.11G>A)	gnomAD v4
17	g.61590524T>A	CA8690152	NACA2	c.9A>T (n.9A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590524T=	CA2269090864	NACA2	c.9A= (n.9A=)
17	g.61590525T>C	CA292793814	NACA2	c.8A>G (n.8A>G)	dbSNP gnomAD v2 gnomAD v4
17	g.61590525T=	CA2269090865	NACA2	c.8A= (n.8A=)
17	g.61590528G>C	CA985260645	NACA2	c.5C>G (n.5C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.61590528G=	CA2269090866	NACA2	c.5C= (n.5C=)
17	g.61590528G>T	CA292793815	NACA2	c.5C>A (n.5C>A)	dbSNP gnomAD v2 gnomAD v4
17	g.61590529A=	CA2269090867	NACA2	c.4T= (n.4T=)
17	g.61590529A>T	CA8690153	NACA2	c.4T>A (n.4T>A)	dbSNP ExAC
17	g.61590532G=	CA2269090868	NACA2	c.1C= (n.1C=)
17	g.61590532G>T	CA8690154	NACA2	c.1C>A (n.1C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590533T>A	CA400783553	NACA2	c.648A>T (p.Ter216Tyr)
17	g.61590533T>C	CA501351094	NACA2	c.648A>G (p.Ter216=)
17	g.61590533T>G	CA400783554	NACA2	c.648A>C (p.Ter216Tyr)
17	g.61590534T>A	CA8690155	NACA2	c.647A>T (p.Ter216Leu)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590534T>C	CA501351096	NACA2	c.647A>G (p.Ter216=)
17	g.61590534T>G	CA400783555	NACA2	c.647A>C (p.Ter216Ser)
17	g.61590534T=	CA2269090869	NACA2	c.647A= (p.Ter216=)
17	g.61590535A>C	CA400783556	NACA2	c.646T>G (p.Ter216Glu)
17	g.61590535A>G	CA400783557	NACA2	c.646T>C (p.Ter216Gln)
17	g.61590535A>T	CA400783558	NACA2	c.646T>A (p.Ter216Lys)
17	g.61590536C>A	CA501351101	NACA2	c.645G>T (p.Val215=)	dbSNP gnomAD v3 gnomAD v4
17	g.61590536C=	CA2269090870	NACA2	c.645G= (p.Val215=)
17	g.61590536C>G	CA501351100	NACA2	c.645G>C (p.Val215=)
17	g.61590536C>T	CA501351102	NACA2	c.645G>A (p.Val215=)
17	g.61590537A=	CA2269090871	NACA2	c.644T= (p.Val215=)
17	g.61590537A>C	CA400783559	NACA2	c.644T>G (p.Val215Gly)
17	g.61590537A>G	CA8690156	NACA2	c.644T>C (p.Val215Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590537A>T	CA400783560	NACA2	c.644T>A (p.Val215Glu)
17	g.61590538C>A	CA400783561	NACA2	c.643G>T (p.Val215Leu)
17	g.61590538C=	CA2269090872	NACA2	c.643G= (p.Val215=)
17	g.61590538C>G	CA400783562	NACA2	c.643G>C (p.Val215Leu)
17	g.61590538C>T	CA292793816	NACA2	c.643G>A (p.Val215Met)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.61590539T>A	CA501351104	NACA2	c.642A>T (p.Thr214=)
17	g.61590539T>C	CA501351106	NACA2	c.642A>G (p.Thr214=)
17	g.61590539T>G	CA501351107	NACA2	c.642A>C (p.Thr214=)
17	g.61590540G>A	CA400783565	NACA2	c.641C>T (p.Thr214Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.61590540G>C	CA400783563	NACA2	c.641C>G (p.Thr214Arg)
17	g.61590540G=	CA2269090873	NACA2	c.641C= (p.Thr214=)
17	g.61590540G>T	CA400783564	NACA2	c.641C>A (p.Thr214Lys)
17	g.61590541T>A	CA400783566	NACA2	c.640A>T (p.Thr214Ser)
17	g.61590541T>C	CA400783567	NACA2	c.640A>G (p.Thr214Ala)
17	g.61590541T>G	CA400783568	NACA2	c.640A>C (p.Thr214Pro)
17	g.61590542T>A	CA400783569	NACA2	c.639A>T (p.Leu213Phe)
17	g.61590542T>C	CA501351108	NACA2	c.639A>G (p.Leu213=)	dbSNP
17	g.61590542T>G	CA400783570	NACA2	c.639A>C (p.Leu213Phe)
17	g.61590542T=	CA2269090874	NACA2	c.639A= (p.Leu213=)
17	g.61590543A>C	CA400783571	NACA2	c.638T>G (p.Leu213Ter)
17	g.61590543A>G	CA400783572	NACA2	c.638T>C (p.Leu213Ser)
17	g.61590543A>T	CA400783573	NACA2	c.638T>A (p.Leu213Ter)
17	g.61590544A=	CA2269090875	NACA2	c.637T= (p.Leu213=)
17	g.61590544A>C	CA400783574	NACA2	c.637T>G (p.Leu213Val)
17	g.61590544A>G	CA8690157	NACA2	c.637T>C (p.Leu213=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590544A>T	CA400783575	NACA2	c.637T>A (p.Leu213Ile)
17	g.61590545T>A	CA400783576	NACA2	c.636A>T (p.Glu212Asp)
17	g.61590545T>C	CA501351113	NACA2	c.636A>G (p.Glu212=)	dbSNP gnomAD v3 gnomAD v4
17	g.61590545T>G	CA400783577	NACA2	c.636A>C (p.Glu212Asp)
17	g.61590545T=	CA2269090876	NACA2	c.636A= (p.Glu212=)
17	g.61590546del	CA2639152778	NACA2	c.636del (p.Glu212AspfsTer2)	gnomAD v4
17	g.61590546T>A	CA400783580	NACA2	c.635A>T (p.Glu212Val)
17	g.61590546T>C	CA400783579	NACA2	c.635A>G (p.Glu212Gly)
17	g.61590546T>G	CA400783578	NACA2	c.635A>C (p.Glu212Ala)
17	g.61590547C>A	CA400783581	NACA2	c.634G>T (p.Glu212Ter)
17	g.61590547C>G	CA400783582	NACA2	c.634G>C (p.Glu212Gln)
17	g.61590547C>T	CA400783583	NACA2	c.634G>A (p.Glu212Lys)	COSMIC
17	g.61590548C>A	CA400783584	NACA2	c.633G>T (p.Met211Ile)	COSMIC
17	g.61590548C>G	CA400783585	NACA2	c.633G>C (p.Met211Ile)
17	g.61590548C>T	CA400783586	NACA2	c.633G>A (p.Met211Ile)
17	g.61590549A>C	CA400783587	NACA2	c.632T>G (p.Met211Arg)
17	g.61590549A>G	CA400783588	NACA2	c.632T>C (p.Met211Thr)
17	g.61590549A>T	CA400783589	NACA2	c.632T>A (p.Met211Lys)
17	g.61590550T>A	CA400783590	NACA2	c.631A>T (p.Met211Leu)
17	g.61590550T>C	CA292793817	NACA2	c.631A>G (p.Met211Val)	dbSNP gnomAD v4
17	g.61590550T>G	CA400783591	NACA2	c.631A>C (p.Met211Leu)
17	g.61590550T=	CA2269090877	NACA2	c.631A= (p.Met211=)
17	g.61590551A>C	CA400783592	NACA2	c.630T>G (p.Ile210Met)	gnomAD v4
17	g.61590551A>G	CA501351121	NACA2	c.630T>C (p.Ile210=)
17	g.61590551A>T	CA501351123	NACA2	c.630T>A (p.Ile210=)
17	g.61590552A>C	CA400783594	NACA2	c.629T>G (p.Ile210Ser)
17	g.61590552A>G	CA400783595	NACA2	c.629T>C (p.Ile210Thr)	gnomAD v4
17	g.61590552A>T	CA400783593	NACA2	c.629T>A (p.Ile210Asn)
17	g.61590553T>A	CA400783596	NACA2	c.628A>T (p.Ile210Phe)
17	g.61590553T>C	CA400783598	NACA2	c.628A>G (p.Ile210Val)
17	g.61590553T>G	CA400783597	NACA2	c.628A>C (p.Ile210Leu)
17	g.61590554C>A	CA501351128	NACA2	c.627G>T (p.Ala209=)	gnomAD v4
17	g.61590554C=	CA2269090878	NACA2	c.627G= (p.Ala209=)
17	g.61590554C>G	CA501351130	NACA2	c.627G>C (p.Ala209=)	gnomAD v4
17	g.61590554C>T	CA8690158	NACA2	c.627G>A (p.Ala209=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590555G>A	CA8690159	NACA2	c.626C>T (p.Ala209Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590555G>C	CA400783599	NACA2	c.626C>G (p.Ala209Gly)	gnomAD v4
17	g.61590555G=	CA2269090879	NACA2	c.626C= (p.Ala209=)
17	g.61590555G>T	CA400783600	NACA2	c.626C>A (p.Ala209Glu)
17	g.61590556C>A	CA400783601	NACA2	c.625G>T (p.Ala209Ser)
17	g.61590556C=	CA2269090880	NACA2	c.625G= (p.Ala209=)
17	g.61590556C>G	CA400783602	NACA2	c.625G>C (p.Ala209Pro)
17	g.61590556C>T	CA400783603	NACA2	c.625G>A (p.Ala209Thr)	dbSNP
17	g.61590557A=	CA2269090881	NACA2	c.624T= (p.Asn208=)
17	g.61590557A>C	CA400783604	NACA2	c.624T>G (p.Asn208Lys)
17	g.61590557A>G	CA292793818	NACA2	c.624T>C (p.Asn208=)	dbSNP gnomAD v3 gnomAD v4
17	g.61590557A>T	CA400783605	NACA2	c.624T>A (p.Asn208Lys)
17	g.61590558T>A	CA400783606	NACA2	c.623A>T (p.Asn208Ile)
17	g.61590558T>C	CA400783607	NACA2	c.623A>G (p.Asn208Ser)
17	g.61590558T>G	CA400783608	NACA2	c.623A>C (p.Asn208Thr)
17	g.61590560dup	CA8690160	NACA2	c.623dup (p.Asn208LysfsTer12)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590559T>A	CA400783609	NACA2	c.622A>T (p.Asn208Tyr)
17	g.61590559T>C	CA400783611	NACA2	c.622A>G (p.Asn208Asp)
17	g.61590559T>G	CA400783610	NACA2	c.622A>C (p.Asn208His)
17	g.61590560T>A	CA501351140	NACA2	c.621A>T (p.Val207=)
17	g.61590560T>C	CA501351137	NACA2	c.621A>G (p.Val207=)	dbSNP gnomAD v2 gnomAD v4
17	g.61590560T>G	CA501351138	NACA2	c.621A>C (p.Val207=)
17	g.61590560T=	CA2269090882	NACA2	c.621A= (p.Val207=)
17	g.61590561A>C	CA400783612	NACA2	c.620T>G (p.Val207Gly)
17	g.61590561A>G	CA400783613	NACA2	c.620T>C (p.Val207Ala)
17	g.61590561A>T	CA400783614	NACA2	c.620T>A (p.Val207Glu)
17	g.61590562C>A	CA8690161	NACA2	c.619G>T (p.Val207Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.61590562C=	CA2269090883	NACA2	c.619G= (p.Val207=)
17	g.61590562C>G	CA400783615	NACA2	c.619G>C (p.Val207Leu)	gnomAD v4
17	g.61590562C>T	CA400783616	NACA2	c.619G>A (p.Val207Ile)	gnomAD v4
17	g.61590563A>C	CA400783617	NACA2	c.618T>G (p.Ile206Met)	gnomAD v4
17	g.61590563A>G	CA501351144	NACA2	c.618T>C (p.Ile206=)
17	g.61590563A>T	CA501351143	NACA2	c.618T>A (p.Ile206=)
17	g.61590564A=	CA2269090884	NACA2	c.617T= (p.Ile206=)
17	g.61590564A>C	CA400783618	NACA2	c.617T>G (p.Ile206Ser)
17	g.61590564A>G	CA8690162	NACA2	c.617T>C (p.Ile206Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590564A>T	CA400783619	NACA2	c.617T>A (p.Ile206Asn)
17	g.61590565T>A	CA400783621	NACA2	c.616A>T (p.Ile206Phe)
17	g.61590565T>C	CA8690163	NACA2	c.616A>G (p.Ile206Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590565T>G	CA400783620	NACA2	c.616A>C (p.Ile206Leu)
17	g.61590565T=	CA2269090885	NACA2	c.616A= (p.Ile206=)
17	g.61590566A=	CA2269090886	NACA2	c.615T= (p.Asp205=)
17	g.61590566A>C	CA400783623	NACA2	c.615T>G (p.Asp205Glu)
17	g.61590566A>G	CA501351149	NACA2	c.615T>C (p.Asp205=)	dbSNP gnomAD v4
17	g.61590566A>T	CA400783622	NACA2	c.615T>A (p.Asp205Glu)
17	g.61590568_61590570del	CA2639152779	NACA2	c.613_615del (p.Asp205del)	gnomAD v4
17	g.61590567T>A	CA8690164	NACA2	c.614A>T (p.Asp205Val)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.61590567T>C	CA400783624	NACA2	c.614A>G (p.Asp205Gly)	gnomAD v4
17	g.61590567T>G	CA400783625	NACA2	c.614A>C (p.Asp205Ala)
17	g.61590567T=	CA2269090887	NACA2	c.614A= (p.Asp205=)
17	g.61590568C>A	CA8690165	NACA2	c.613G>T (p.Asp205Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590568C=	CA2269090888	NACA2	c.613G= (p.Asp205=)
17	g.61590568C>G	CA400783626	NACA2	c.613G>C (p.Asp205His)
17	g.61590568C>T	CA292793819	NACA2	c.613G>A (p.Asp205Asn)	dbSNP COSMIC
17	g.61590569A>C	CA400783627	NACA2	c.612T>G (p.Asn204Lys)	gnomAD v4
17	g.61590569A>G	CA501351155	NACA2	c.612T>C (p.Asn204=)
17	g.61590569A>T	CA400783628	NACA2	c.612T>A (p.Asn204Lys)
17	g.61590570T>A	CA400783629	NACA2	c.611A>T (p.Asn204Ile)
17	g.61590570T>C	CA400783630	NACA2	c.611A>G (p.Asn204Ser)
17	g.61590570T>G	CA400783631	NACA2	c.611A>C (p.Asn204Thr)
17	g.61590571T>A	CA400783634	NACA2	c.610A>T (p.Asn204Tyr)
17	g.61590571T>C	CA400783633	NACA2	c.610A>G (p.Asn204Asp)
17	g.61590571T>G	CA400783632	NACA2	c.610A>C (p.Asn204His)
17	g.61590572A>C	CA400783635	NACA2	c.609T>G (p.Ser203Arg)
17	g.61590572A>G	CA501351160	NACA2	c.609T>C (p.Ser203=)
17	g.61590572A>T	CA400783636	NACA2	c.609T>A (p.Ser203Arg)
17	g.61590573C>A	CA400783637	NACA2	c.608G>T (p.Ser203Ile)
17	g.61590573C=	CA2269090889	NACA2	c.608G= (p.Ser203=)
17	g.61590573C>G	CA400783638	NACA2	c.608G>C (p.Ser203Thr)
17	g.61590573C>T	CA8690166	NACA2	c.608G>A (p.Ser203Asn)	dbSNP ExAC
17	g.61590574T>A	CA400783639	NACA2	c.607A>T (p.Ser203Cys)
17	g.61590574T>C	CA400783640	NACA2	c.607A>G (p.Ser203Gly)
17	g.61590574T>G	CA400783641	NACA2	c.607A>C (p.Ser203Arg)
17	g.61590578_61590580del	CA2639152780	NACA2	c.605_607del (p.Asn202del)	gnomAD v4
17	g.61590575G>A	CA501351168	NACA2	c.606C>T (p.Asn202=)
17	g.61590575G>C	CA400783642	NACA2	c.606C>G (p.Asn202Lys)
17	g.61590575G=	CA2269090890	NACA2	c.606C= (p.Asn202=)
17	g.61590575G>T	CA400783643	NACA2	c.606C>A (p.Asn202Lys)
17	g.61590576T>A	CA400783644	NACA2	c.605A>T (p.Asn202Ile)
17	g.61590576T>C	CA400783645	NACA2	c.605A>G (p.Asn202Ser)
17	g.61590576T>G	CA400783646	NACA2	c.605A>C (p.Asn202Thr)
17	g.61590577dup	CA2269090891	NACA2	c.605dup (p.Asn202LysfsTer3)	dbSNP
17	g.61590577T>A	CA400783648	NACA2	c.604A>T (p.Asn202Tyr)
17	g.61590577T>C	CA400783649	NACA2	c.604A>G (p.Asn202Asp)	dbSNP
17	g.61590577T>G	CA400783647	NACA2	c.604A>C (p.Asn202His)	dbSNP gnomAD v2 gnomAD v4
17	g.61590577T=	CA2269090892	NACA2	c.604A= (p.Asn202=)
17	g.61590578G>A	CA501351172	NACA2	c.603C>T (p.Asn201=)	dbSNP
17	g.61590578G>C	CA400783650	NACA2	c.603C>G (p.Asn201Lys)	gnomAD v4
17	g.61590578G=	CA2269090893	NACA2	c.603C= (p.Asn201=)
17	g.61590578G>T	CA400783651	NACA2	c.603C>A (p.Asn201Lys)
17	g.61590579T>A	CA400783652	NACA2	c.602A>T (p.Asn201Ile)	gnomAD v4
17	g.61590579T>C	CA400783653	NACA2	c.602A>G (p.Asn201Ser)	COSMIC
17	g.61590579T>G	CA400783654	NACA2	c.602A>C (p.Asn201Thr)
17	g.61590582_61590584del	CA2558519234	NACA2	c.600_602del (p.Lys200del)
17	g.61590580T>A	CA400783655	NACA2	c.601A>T (p.Asn201Tyr)
17	g.61590580T>C	CA400783656	NACA2	c.601A>G (p.Asn201Asp)
17	g.61590580T>G	CA400783657	NACA2	c.601A>C (p.Asn201His)
17	g.61590581C>A	CA400783658	NACA2	c.600G>T (p.Lys200Asn)
17	g.61590581C>G	CA400783659	NACA2	c.600G>C (p.Lys200Asn)	gnomAD v4
17	g.61590581C>T	CA501351182	NACA2	c.600G>A (p.Lys200=)
17	g.61590582T>A	CA400783660	NACA2	c.599A>T (p.Lys200Met)
17	g.61590582T>C	CA400783661	NACA2	c.599A>G (p.Lys200Arg)	dbSNP gnomAD v2
17	g.61590582T>G	CA400783662	NACA2	c.599A>C (p.Lys200Thr)
17	g.61590582T=	CA2269090894	NACA2	c.599A= (p.Lys200=)
17	g.61590583T>A	CA400783665	NACA2	c.598A>T (p.Lys200Ter)
17	g.61590583T>C	CA400783664	NACA2	c.598A>G (p.Lys200Glu)
17	g.61590583T>G	CA400783663	NACA2	c.598A>C (p.Lys200Gln)
17	g.61590584C>A	CA501351184	NACA2	c.597G>T (p.Leu199=)
17	g.61590584C=	CA2269090895	NACA2	c.597G= (p.Leu199=)
17	g.61590584C>G	CA501351186	NACA2	c.597G>C (p.Leu199=)
17	g.61590584C>T	CA501351188	NACA2	c.597G>A (p.Leu199=)	dbSNP gnomAD v4
17	g.61590585A=	CA2269090896	NACA2	c.596T= (p.Leu199=)
17	g.61590585A>C	CA400783666	NACA2	c.596T>G (p.Leu199Arg)
17	g.61590585A>G	CA400783667	NACA2	c.596T>C (p.Leu199Pro)	gnomAD v4
17	g.61590585A>T	CA8690167	NACA2	c.596T>A (p.Leu199Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.61590586G>A	CA501351191	NACA2	c.595C>T (p.Leu199=)
17	g.61590586G>C	CA400783668	NACA2	c.595C>G (p.Leu199Val)	gnomAD v4
17	g.61590586G>T	CA400783669	NACA2	c.595C>A (p.Leu199Met)
17	g.61590587A=	CA2269090897	NACA2	c.594T= (p.Ala198=)
17	g.61590587A>C	CA8690168	NACA2	c.594T>G (p.Ala198=)	dbSNP ExAC gnomAD v2
17	g.61590587A>G	CA292793820	NACA2	c.594T>C (p.Ala198=)	dbSNP gnomAD v2 gnomAD v4
17	g.61590587A>T	CA501351196	NACA2	c.594T>A (p.Ala198=)

Number of alleles fetched