Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.42066651A=	CA2406550362	NAGA	c.597+59T= (n.597+59T=)
22	g.42066651A>G	CA2657021970	NAGA	c.597+59T>C (n.597+59T>C)	gnomAD v4
22	g.42066651A>T	CA324656050	NAGA	c.597+59T>A (n.597+59T>A)	dbSNP gnomAD v4
22	g.42066652G>A	CA1025909364	NAGA	c.597+58C>T (n.597+58C>T)	dbSNP gnomAD v3 gnomAD v4
22	g.42066652G=	CA2406550363	NAGA	c.597+58C= (n.597+58C=)
22	g.42066652G>T	CA2577736753	NAGA	c.597+58C>A (n.597+58C>A)	gnomAD v4
22	g.42066653G>A	CA324656059	NAGA	c.597+57C>T (n.597+57C>T)	dbSNP gnomAD v3 gnomAD v4
22	g.42066653G=	CA2406550364	NAGA	c.597+57C= (n.597+57C=)
22	g.42066655G>A	CA2657021971	NAGA	c.597+55C>T (n.597+55C>T)	gnomAD v4
22	g.42066655G>T	CA2577736754	NAGA	c.597+55C>A (n.597+55C>A)	gnomAD v4
22	g.42066656G>A	CA2657021972	NAGA	c.597+54C>T (n.597+54C>T)	gnomAD v4
22	g.42066657T>C	CA2657021973	NAGA	c.597+53A>G (n.597+53A>G)	gnomAD v4
22	g.42066657T>G	CA2657021974	NAGA	c.597+53A>C (n.597+53A>C)	gnomAD v4
22	g.42066658A=	CA2406550365	NAGA	c.597+52T= (n.597+52T=)
22	g.42066658A>G	CA2657021975	NAGA	c.597+52T>C (n.597+52T>C)	gnomAD v4
22	g.42066658A>T	CA639474808	NAGA	c.597+52T>A (n.597+52T>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066659del	CA2657021976	NAGA	c.597+52del (n.597+52del)	gnomAD v4
22	g.42066659_42066663delinsAGGAG	CA2406550366	NAGA	c.597+47_597+51delinsCTCCT (n.597+47_597+51delinsCTCCT)
22	g.42066661_42066664del	CA639474809	NAGA	c.597+47_597+50del (n.597+47_597+50del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066661G>A	CA324656060	NAGA	c.597+49C>T (n.597+49C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066661G=	CA2406550367	NAGA	c.597+49C= (n.597+49C=)
22	g.42066663G>A	CA2657021977	NAGA	c.597+47C>T (n.597+47C>T)	dbSNP gnomAD v4
22	g.42066663G>T	CA2657021978	NAGA	c.597+47C>A (n.597+47C>A)	gnomAD v4
22	g.42066664G>T	CA2577736755	NAGA	c.597+46C>A (n.597+46C>A)	gnomAD v4
22	g.42066665C>G	CA2524553016	NAGA	c.597+45G>C (n.597+45G>C)	gnomAD v4
22	g.42066666C>T	CA2657021979	NAGA	c.597+44G>A (n.597+44G>A)	gnomAD v4
22	g.42066668G>A	CA10263750	NAGA	c.597+42C>T (n.597+42C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066668G>C	CA324656061	NAGA	c.597+42C>G (n.597+42C>G)	dbSNP gnomAD v4
22	g.42066668G=	CA2406550368	NAGA	c.597+42C= (n.597+42C=)
22	g.42066668G>T	CA2657021980	NAGA	c.597+42C>A (n.597+42C>A)	gnomAD v4
22	g.42066669G>A	CA2657021981	NAGA	c.597+41C>T (n.597+41C>T)	gnomAD v4
22	g.42066669G>T	CA2657021982	NAGA	c.597+41C>A (n.597+41C>A)	gnomAD v4
22	g.42066669_42066670insCACTCAG	CA639474810	NAGA	c.597+41_597+42insTGAGTGC (n.597+41_597+42insTGAGTGC)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066670G>A	CA2657021983	NAGA	c.597+40C>T (n.597+40C>T)	gnomAD v4
22	g.42066670G>T	CA2577736756	NAGA	c.597+40C>A (n.597+40C>A)
22	g.42066671T>A	CA2577736757	NAGA	c.597+39A>T (n.597+39A>T)
22	g.42066672G>A	CA639474811	NAGA	c.597+38C>T (n.597+38C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066672G=	CA2406550369	NAGA	c.597+38C= (n.597+38C=)
22	g.42066672G>T	CA2657021984	NAGA	c.597+38C>A (n.597+38C>A)	gnomAD v4
22	g.42066674G>A	CA753287279	NAGA	c.597+36C>T (n.597+36C>T)	dbSNP
22	g.42066674G=	CA2406550370	NAGA	c.597+36C= (n.597+36C=)
22	g.42066674G>T	CA2657021985	NAGA	c.597+36C>A (n.597+36C>A)	gnomAD v4
22	g.42066675G>A	CA10263751	NAGA	c.597+35C>T (n.597+35C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066675G=	CA2406550371	NAGA	c.597+35C= (n.597+35C=)
22	g.42066675G>T	CA2657021986	NAGA	c.597+35C>A (n.597+35C>A)	gnomAD v4
22	g.42066676G>T	CA2657021987	NAGA	c.597+34C>A (n.597+34C>A)	gnomAD v4
22	g.42066677A>T	CA2577736758	NAGA	c.597+33T>A (n.597+33T>A)
22	g.42066678A>G	CA2657021988	NAGA	c.597+32T>C (n.597+32T>C)	gnomAD v4
22	g.42066678A>T	CA2657021989	NAGA	c.597+32T>A (n.597+32T>A)	gnomAD v4
22	g.42066679G>A	CA639474812	NAGA	c.597+31C>T (n.597+31C>T)	dbSNP gnomAD v2
22	g.42066679G>C	CA324656067	NAGA	c.597+31C>G (n.597+31C>G)	dbSNP
22	g.42066679G=	CA2406550372	NAGA	c.597+31C= (n.597+31C=)
22	g.42066679G>T	CA2577736759	NAGA	c.597+31C>A (n.597+31C>A)
22	g.42066680C>A	CA2657021990	NAGA	c.597+30G>T (n.597+30G>T)	gnomAD v4
22	g.42066680C=	CA2406550373	NAGA	c.597+30G= (n.597+30G=)
22	g.42066680C>T	CA10263752	NAGA	c.597+30G>A (n.597+30G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066681G>A	CA10263753	NAGA	c.597+29C>T (n.597+29C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066681G=	CA2406550374	NAGA	c.597+29C= (n.597+29C=)
22	g.42066681G>T	CA10263754	NAGA	c.597+29C>A (n.597+29C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066682C>A	CA2657021991	NAGA	c.597+28G>T (n.597+28G>T)	gnomAD v4
22	g.42066683C>A	CA2657021992	NAGA	c.597+27G>T (n.597+27G>T)	gnomAD v4
22	g.42066683C>T	CA2657021993	NAGA	c.597+27G>A (n.597+27G>A)	gnomAD v4
22	g.42066686C>A	CA2657021994	NAGA	c.597+24G>T (n.597+24G>T)	gnomAD v4
22	g.42066686C=	CA2406550375	NAGA	c.597+24G= (n.597+24G=)
22	g.42066686C>G	CA658121150	NAGA	c.597+24G>C (n.597+24G>C)	COSMIC
22	g.42066686C>T	CA639474813	NAGA	c.597+24G>A (n.597+24G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066687A=	CA2406550376	NAGA	c.597+23T= (n.597+23T=)
22	g.42066687A>C	CA10263755	NAGA	c.597+23T>G (n.597+23T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066687A>G	CA2657021995	NAGA	c.597+23T>C (n.597+23T>C)	gnomAD v4
22	g.42066688G>A	CA10263756	NAGA	c.597+22C>T (n.597+22C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066688G=	CA2406550377	NAGA	c.597+22C= (n.597+22C=)
22	g.42066688G>T	CA2657021996	NAGA	c.597+22C>A (n.597+22C>A)	gnomAD v4
22	g.42066689G>A	CA2657021997	NAGA	c.597+21C>T (n.597+21C>T)	gnomAD v4
22	g.42066689G>T	CA2657021998	NAGA	c.597+21C>A (n.597+21C>A)	gnomAD v4
22	g.42066690C>A	CA2657021999	NAGA	c.597+20G>T (n.597+20G>T)	gnomAD v4
22	g.42066690C>T	CA2657022000	NAGA	c.597+20G>A (n.597+20G>A)	gnomAD v4
22	g.42066691del	CA2577736760	NAGA	c.597+19del (n.597+19del)
22	g.42066691A=	CA2406550378	NAGA	c.597+19T= (n.597+19T=)
22	g.42066691A>T	CA639474814	NAGA	c.597+19T>A (n.597+19T>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066692G>T	CA2657022001	NAGA	c.597+18C>A (n.597+18C>A)	gnomAD v4
22	g.42066696dup	CA10263757	NAGA	c.597+18dup (n.597+18dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066693G>A	CA2657022002	NAGA	c.597+17C>T (n.597+17C>T)	ClinVar gnomAD v4
22	g.42066693G>C	CA10263758	NAGA	c.597+17C>G (n.597+17C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066693G=	CA2406550379	NAGA	c.597+17C= (n.597+17C=)
22	g.42066693G>T	CA2657022003	NAGA	c.597+17C>A (n.597+17C>A)	gnomAD v4
22	g.42066694G>A	CA324656111	NAGA	c.597+16C>T (n.597+16C>T)	dbSNP gnomAD v4
22	g.42066694G=	CA2406550380	NAGA	c.597+16C= (n.597+16C=)
22	g.42066694G>T	CA2577736761	NAGA	c.597+16C>A (n.597+16C>A)	gnomAD v4
22	g.42066695G>A	CA2657022004	NAGA	c.597+15C>T (n.597+15C>T)	gnomAD v4
22	g.42066695G>T	CA2577736762	NAGA	c.597+15C>A (n.597+15C>A)	gnomAD v4
22	g.42066696G>A	CA639474815	NAGA	c.597+14C>T (n.597+14C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066696G>C	CA2577736763	NAGA	c.597+14C>G (n.597+14C>G)
22	g.42066696G=	CA2406550381	NAGA	c.597+14C= (n.597+14C=)
22	g.42066696G>T	CA2657022005	NAGA	c.597+14C>A (n.597+14C>A)	gnomAD v4
22	g.42066697C>A	CA2657022006	NAGA	c.597+13G>T (n.597+13G>T)	gnomAD v4
22	g.42066697C=	CA2406550382	NAGA	c.597+13G= (n.597+13G=)
22	g.42066697C>G	CA324656115	NAGA	c.597+13G>C (n.597+13G>C)	dbSNP
22	g.42066697C>T	CA2657022007	NAGA	c.597+13G>A (n.597+13G>A)	gnomAD v4
22	g.42066698A>G	CA2657022008	NAGA	c.597+12T>C (n.597+12T>C)	gnomAD v4
22	g.42066699G>A	CA10263759	NAGA	c.597+11C>T (n.597+11C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066699G=	CA2406550383	NAGA	c.597+11C= (n.597+11C=)
22	g.42066699G>T	CA2657022009	NAGA	c.597+11C>A (n.597+11C>A)	gnomAD v4
22	g.42066701A=	CA2406550384	NAGA	c.597+9T= (n.597+9T=)
22	g.42066701A>G	CA639474816	NAGA	c.597+9T>C (n.597+9T>C)	dbSNP gnomAD v2 gnomAD v4
22	g.42066702T>G	CA639474817	NAGA	c.597+8A>C (n.597+8A>C)	dbSNP gnomAD v2 gnomAD v4
22	g.42066702T=	CA2406550385	NAGA	c.597+8A= (n.597+8A=)
22	g.42066703G>A	CA639474818	NAGA	c.597+7C>T (n.597+7C>T)	dbSNP gnomAD v2 gnomAD v4
22	g.42066703G=	CA2406550386	NAGA	c.597+7C= (n.597+7C=)
22	g.42066703G>T	CA2697552789	NAGA	c.597+7C>A (n.597+7C>A)	ClinVar
22	g.42066704del	CA2657022010	NAGA	c.597+7del (n.597+7del)	gnomAD v4
22	g.42066704G>A	CA2657022012	NAGA	c.597+6C>T (n.597+6C>T)	gnomAD v4
22	g.42066704G>T	CA2657022011	NAGA	c.597+6C>A (n.597+6C>A)	gnomAD v4
22	g.42066705C>A	CA639474819	NAGA	c.597+5G>T (n.597+5G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066705C=	CA2406550387	NAGA	c.597+5G= (n.597+5G=)
22	g.42066708A=	CA2406550388	NAGA	c.597+2T= (n.597+2T=)
22	g.42066708A>C	CA411768423	NAGA	c.597+2T>G (n.597+2T>G)
22	g.42066708A>G	CA324656117	NAGA	c.597+2T>C (n.597+2T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066708A>T	CA411768424	NAGA	c.597+2T>A (n.597+2T>A)
22	g.42066709C>A	CA411768427	NAGA	c.597+1G>T (n.597+1G>T)	gnomAD v4
22	g.42066709C>G	CA411768425	NAGA	c.597+1G>C (n.597+1G>C)
22	g.42066709C>T	CA411768426	NAGA	c.597+1G>A (n.597+1G>A)	gnomAD v4
22	g.42066710C>A	CA411768428	NAGA	c.597G>T (p.Arg199Ser)
22	g.42066710C=	CA2406550389	NAGA	c.597G= (p.Arg199=)
22	g.42066710C>G	CA411768429	NAGA	c.597G>C (p.Arg199Ser)	gnomAD v4
22	g.42066710C>T	CA324656120	NAGA	c.597G>A (p.Arg199=)	dbSNP gnomAD v4
22	g.42066711C>A	CA411768430	NAGA	c.596G>T (p.Arg199Met)	gnomAD v4
22	g.42066711C=	CA2406550390	NAGA	c.596G= (p.Arg199=)
22	g.42066711C>G	CA411768431	NAGA	c.596G>C (p.Arg199Thr)
22	g.42066711C>T	CA411768432	NAGA	c.596G>A (p.Arg199Lys)	gnomAD v4
22	g.42066712T>A	CA411768433	NAGA	c.595A>T (p.Arg199Trp)
22	g.42066712T>C	CA10263761	NAGA	c.595A>G (p.Arg199Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066712T>G	CA10263760	NAGA	c.595A>C (p.Arg199=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066712T=	CA2406550392	NAGA	c.595A= (p.Arg199=)
22	g.42066713dup	CA2406550391	NAGA	c.595dup (p.Arg199LysfsTer16)	dbSNP gnomAD v4
22	g.42066713T>A	CA514677675	NAGA	c.594A>T (p.Pro198=)	gnomAD v4
22	g.42066713T>C	CA514677674	NAGA	c.594A>G (p.Pro198=)
22	g.42066713T>G	CA514677673	NAGA	c.594A>C (p.Pro198=)
22	g.42066713T=	CA2406550393	NAGA	c.594A= (p.Pro198=)
22	g.42066714G>A	CA411768434	NAGA	c.593C>T (p.Pro198Leu)	gnomAD v4
22	g.42066714G>C	CA10263762	NAGA	c.593C>G (p.Pro198Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066714G=	CA2406550394	NAGA	c.593C= (p.Pro198=)
22	g.42066714G>T	CA411768435	NAGA	c.593C>A (p.Pro198Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066719dup	CA514677678	NAGA	c.593dup (p.Arg199LysfsTer16)	dbSNP gnomAD v2 gnomAD v4 COSMIC
22	g.42066719del	CA514677677	NAGA	c.593del (p.Pro198GlnfsTer3)	gnomAD v4 COSMIC
22	g.42066715G>A	CA10263765	NAGA	c.592C>T (p.Pro198Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066715G>C	CA10263764	NAGA	c.592C>G (p.Pro198Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066715G=	CA2406550395	NAGA	c.592C= (p.Pro198=)
22	g.42066715G>T	CA10263763	NAGA	c.592C>A (p.Pro198Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066716G>A	CA10263766	NAGA	c.591C>T (p.Pro197=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066716G>C	CA10263767	NAGA	c.591C>G (p.Pro197=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066716G=	CA2406550396	NAGA	c.591C= (p.Pro197=)
22	g.42066716G>T	CA10263768	NAGA	c.591C>A (p.Pro197=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066717G>A	CA411768436	NAGA	c.590C>T (p.Pro197Leu)	gnomAD v4
22	g.42066717G>C	CA411768437	NAGA	c.590C>G (p.Pro197Arg)
22	g.42066717G=	CA2406550397	NAGA	c.590C= (p.Pro197=)
22	g.42066717G>T	CA411768438	NAGA	c.590C>A (p.Pro197His)	dbSNP gnomAD v3 gnomAD v4
22	g.42066718G>A	CA411768440	NAGA	c.589C>T (p.Pro197Ser)	gnomAD v4
22	g.42066718G>C	CA411768441	NAGA	c.589C>G (p.Pro197Ala)
22	g.42066718G>T	CA411768439	NAGA	c.589C>A (p.Pro197Thr)	gnomAD v4
22	g.42066719G>A	CA514677690	NAGA	c.588C>T (p.Leu196=)	ClinVar dbSNP gnomAD v4 COSMIC
22	g.42066719G>C	CA514677688	NAGA	c.588C>G (p.Leu196=)	gnomAD v4
22	g.42066719G=	CA2406550398	NAGA	c.588C= (p.Leu196=)
22	g.42066719G>T	CA514677687	NAGA	c.588C>A (p.Leu196=)
22	g.42066720A=	CA2406550399	NAGA	c.587T= (p.Leu196=)
22	g.42066720A>C	CA411768442	NAGA	c.587T>G (p.Leu196Arg)
22	g.42066720A>G	CA411768443	NAGA	c.587T>C (p.Leu196Pro)	dbSNP gnomAD v4
22	g.42066720A>T	CA411768444	NAGA	c.587T>A (p.Leu196His)
22	g.42066721G>A	CA411768445	NAGA	c.586C>T (p.Leu196Phe)
22	g.42066721G>C	CA411768446	NAGA	c.586C>G (p.Leu196Val)
22	g.42066721G=	CA2406550400	NAGA	c.586C= (p.Leu196=)
22	g.42066721G>T	CA411768447	NAGA	c.586C>A (p.Leu196Ile)	dbSNP
22	g.42066722G>A	CA514677693	NAGA	c.585C>T (p.Gly195=)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.42066722G>C	CA514677692	NAGA	c.585C>G (p.Gly195=)	ClinVar gnomAD v4
22	g.42066722G=	CA2406550401	NAGA	c.585C= (p.Gly195=)
22	g.42066722G>T	CA324656125	NAGA	c.585C>A (p.Gly195=)	dbSNP
22	g.42066723C>A	CA411768448	NAGA	c.584G>T (p.Gly195Val)
22	g.42066723C>G	CA411768450	NAGA	c.584G>C (p.Gly195Ala)
22	g.42066723C>T	CA411768449	NAGA	c.584G>A (p.Gly195Asp)	gnomAD v4
22	g.42066724C>A	CA411768451	NAGA	c.583G>T (p.Gly195Cys)	dbSNP gnomAD v3 gnomAD v4
22	g.42066724C=	CA2406550402	NAGA	c.583G= (p.Gly195=)
22	g.42066724C>G	CA411768452	NAGA	c.583G>C (p.Gly195Arg)
22	g.42066724C>T	CA10263769	NAGA	c.583G>A (p.Gly195Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42066725G>A	CA10263770	NAGA	c.582C>T (p.Gly194=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22	g.42066725G>C	CA514677696	NAGA	c.582C>G (p.Gly194=)
22	g.42066725G=	CA2406550403	NAGA	c.582C= (p.Gly194=)
22	g.42066725G>T	CA514677695	NAGA	c.582C>A (p.Gly194=)	gnomAD v4
22	g.42066726C>A	CA411768453	NAGA	c.581G>T (p.Gly194Val)
22	g.42066726C>G	CA411768455	NAGA	c.581G>C (p.Gly194Ala)
22	g.42066726C>T	CA411768454	NAGA	c.581G>A (p.Gly194Asp)	gnomAD v4
22	g.42066727C>A	CA411768456	NAGA	c.580G>T (p.Gly194Cys)	dbSNP
22	g.42066727C=	CA2406550404	NAGA	c.580G= (p.Gly194=)
22	g.42066727C>G	CA411768458	NAGA	c.580G>C (p.Gly194Arg)
22	g.42066727C>T	CA411768457	NAGA	c.580G>A (p.Gly194Ser)
22	g.42066728T>A	CA411768459	NAGA	c.579A>T (p.Glu193Asp)
22	g.42066728T>C	CA514677703	NAGA	c.579A>G (p.Glu193=)
22	g.42066728T>G	CA411768460	NAGA	c.579A>C (p.Glu193Asp)
22	g.42066729T>A	CA411768461	NAGA	c.578A>T (p.Glu193Val)	gnomAD v4
22	g.42066729T>C	CA411768462	NAGA	c.578A>G (p.Glu193Gly)
22	g.42066729T>G	CA411768463	NAGA	c.578A>C (p.Glu193Ala)
22	g.42066730C>A	CA127850	NAGA	c.577G>T (p.Glu193Ter)	ClinVar dbSNP
22	g.42066730C=	CA2406550405	NAGA	c.577G= (p.Glu193=)
22	g.42066730C>G	CA324656135	NAGA	c.577G>C (p.Glu193Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066730C>T	CA411768464	NAGA	c.577G>A (p.Glu193Lys)
22	g.42066731A=	CA2406550406	NAGA	c.576T= (p.Tyr192=)
22	g.42066731A>C	CA411768465	NAGA	c.576T>G (p.Tyr192Ter)	gnomAD v4
22	g.42066731A>G	CA514677708	NAGA	c.576T>C (p.Tyr192=)	dbSNP gnomAD v2 gnomAD v4
22	g.42066731A>T	CA411768466	NAGA	c.576T>A (p.Tyr192Ter)
22	g.42066732T>A	CA411768468	NAGA	c.575A>T (p.Tyr192Phe)
22	g.42066732T>C	CA10263771	NAGA	c.575A>G (p.Tyr192Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066732T>G	CA411768467	NAGA	c.575A>C (p.Tyr192Ser)
22	g.42066732T=	CA2406550407	NAGA	c.575A= (p.Tyr192=)
22	g.42066733A=	CA2406550408	NAGA	c.574T= (p.Tyr192=)
22	g.42066733A>C	CA411768469	NAGA	c.574T>G (p.Tyr192Asp)
22	g.42066733A>G	CA411768470	NAGA	c.574T>C (p.Tyr192His)	gnomAD v4
22	g.42066733A>T	CA411768471	NAGA	c.574T>A (p.Tyr192Asn)	dbSNP
22	g.42066734G>A	CA514677715	NAGA	c.573C>T (p.Ala191=)	ClinVar dbSNP
22	g.42066734G>C	CA514677714	NAGA	c.573C>G (p.Ala191=)
22	g.42066734G>T	CA514677713	NAGA	c.573C>A (p.Ala191=)	gnomAD v4
22	g.42066735G>A	CA411768472	NAGA	c.572C>T (p.Ala191Val)	gnomAD v4
22	g.42066735G>C	CA411768473	NAGA	c.572C>G (p.Ala191Gly)	gnomAD v4
22	g.42066735G=	CA2406550409	NAGA	c.572C= (p.Ala191=)
22	g.42066735G>T	CA10263772	NAGA	c.572C>A (p.Ala191Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066736C>A	CA411768474	NAGA	c.571G>T (p.Ala191Ser)	gnomAD v4
22	g.42066736C>G	CA411768475	NAGA	c.571G>C (p.Ala191Pro)
22	g.42066736C>T	CA411768476	NAGA	c.571G>A (p.Ala191Thr)
22	g.42066737T>A	CA514677719	NAGA	c.570A>T (p.Pro190=)	gnomAD v4
22	g.42066737T>C	CA324656146	NAGA	c.570A>G (p.Pro190=)	dbSNP
22	g.42066737T>G	CA514677718	NAGA	c.570A>C (p.Pro190=)
22	g.42066737T=	CA2406550410	NAGA	c.570A= (p.Pro190=)
22	g.42066738G>A	CA411768477	NAGA	c.569C>T (p.Pro190Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.42066738G>C	CA411768478	NAGA	c.569C>G (p.Pro190Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.42066738G=	CA2406550411	NAGA	c.569C= (p.Pro190=)
22	g.42066738G>T	CA411768479	NAGA	c.569C>A (p.Pro190Gln)	dbSNP gnomAD v3 gnomAD v4
22	g.42066739G>A	CA411768481	NAGA	c.568C>T (p.Pro190Ser)	gnomAD v4
22	g.42066739G>C	CA411768482	NAGA	c.568C>G (p.Pro190Ala)
22	g.42066739G>T	CA411768480	NAGA	c.568C>A (p.Pro190Thr)
22	g.42066740C>A	CA411768483	NAGA	c.567G>T (p.Trp189Cys)	gnomAD v4 COSMIC
22	g.42066740C=	CA2406550412	NAGA	c.567G= (p.Trp189=)
22	g.42066740C>G	CA411768484	NAGA	c.567G>C (p.Trp189Cys)
22	g.42066740C>T	CA324656158	NAGA	c.567G>A (p.Trp189Ter)	dbSNP gnomAD v4
22	g.42066741C>A	CA411768485	NAGA	c.566G>T (p.Trp189Leu)	gnomAD v4
22	g.42066741C>G	CA411768486	NAGA	c.566G>C (p.Trp189Ser)
22	g.42066741C>T	CA411768487	NAGA	c.566G>A (p.Trp189Ter)
22	g.42066742A>C	CA411768490	NAGA	c.565T>G (p.Trp189Gly)
22	g.42066742A>G	CA411768488	NAGA	c.565T>C (p.Trp189Arg)	gnomAD v4
22	g.42066742A>T	CA411768489	NAGA	c.565T>A (p.Trp189Arg)
22	g.42066743G>A	CA514677721	NAGA	c.564C>T (p.Ser188=)	gnomAD v4
22	g.42066743G>C	CA411768491	NAGA	c.564C>G (p.Ser188Arg)
22	g.42066743G>T	CA411768492	NAGA	c.564C>A (p.Ser188Arg)	gnomAD v4
22	g.42066744C>A	CA411768493	NAGA	c.563G>T (p.Ser188Ile)	gnomAD v4
22	g.42066744C=	CA2406550413	NAGA	c.563G= (p.Ser188=)
22	g.42066744C>G	CA411768494	NAGA	c.563G>C (p.Ser188Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.42066744C>T	CA411768495	NAGA	c.563G>A (p.Ser188Asn)	gnomAD v4
22	g.42066745T>A	CA411768496	NAGA	c.562A>T (p.Ser188Cys)
22	g.42066745T>C	CA411768498	NAGA	c.562A>G (p.Ser188Gly)
22	g.42066745T>G	CA411768497	NAGA	c.562A>C (p.Ser188Arg)
22	g.42066746G>A	CA514677722	NAGA	c.561C>T (p.Cys187=)	gnomAD v4
22	g.42066746G>C	CA411768499	NAGA	c.561C>G (p.Cys187Trp)
22	g.42066746G>T	CA411768500	NAGA	c.561C>A (p.Cys187Ter)	gnomAD v4
22	g.42066747C>A	CA411768501	NAGA	c.560G>T (p.Cys187Phe)
22	g.42066747C>G	CA411768502	NAGA	c.560G>C (p.Cys187Ser)
22	g.42066747C>T	CA411768503	NAGA	c.560G>A (p.Cys187Tyr)	gnomAD v4
22	g.42066748A>C	CA411768504	NAGA	c.559T>G (p.Cys187Gly)
22	g.42066748A>G	CA411768505	NAGA	c.559T>C (p.Cys187Arg)
22	g.42066748A>T	CA411768506	NAGA	c.559T>A (p.Cys187Ser)
22	g.42066750_42066752del	CA2657022013	NAGA	c.557_559del (p.Ser186del)	gnomAD v4
22	g.42066749G>A	CA514677727	NAGA	c.558C>T (p.Ser186=)
22	g.42066749G>C	CA514677726	NAGA	c.558C>G (p.Ser186=)
22	g.42066749G>T	CA514677725	NAGA	c.558C>A (p.Ser186=)
22	g.42066750G>A	CA411768507	NAGA	c.557C>T (p.Ser186Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42066750G>C	CA411768508	NAGA	c.557C>G (p.Ser186Cys)
22	g.42066750G=	CA2406550414	NAGA	c.557C= (p.Ser186=)
22	g.42066750G>T	CA411768509	NAGA	c.557C>A (p.Ser186Tyr)	gnomAD v4
22	g.42066751A>C	CA411768510	NAGA	c.556T>G (p.Ser186Ala)
22	g.42066751A>G	CA411768512	NAGA	c.556T>C (p.Ser186Pro)
22	g.42066751A>T	CA411768511	NAGA	c.556T>A (p.Ser186Thr)

Number of alleles fetched