Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.42060968A=	CA2406547717	NAGA	c.1057T= (p.Ser353=)
22	g.42060968A>C	CA411766115	NAGA	c.1057T>G (p.Ser353Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.42060968A>G	CA411766116	NAGA	c.1057T>C (p.Ser353Pro)
22	g.42060968A>T	CA411766117	NAGA	c.1057T>A (p.Ser353Thr)
22	g.42060969G>A	CA514676502	NAGA	c.1056C>T (p.His352=)
22	g.42060969G>C	CA411766118	NAGA	c.1056C>G (p.His352Gln)
22	g.42060969G>T	CA411766119	NAGA	c.1056C>A (p.His352Gln)
22	g.42060970T>A	CA411766122	NAGA	c.1055A>T (p.His352Leu)
22	g.42060970T>C	CA411766120	NAGA	c.1055A>G (p.His352Arg)
22	g.42060970T>G	CA411766121	NAGA	c.1055A>C (p.His352Pro)
22	g.42060971G>A	CA411766123	NAGA	c.1054C>T (p.His352Tyr)
22	g.42060971G>C	CA411766124	NAGA	c.1054C>G (p.His352Asp)
22	g.42060971G>T	CA411766125	NAGA	c.1054C>A (p.His352Asn)
22	g.42060972G>A	CA324650169	NAGA	c.1053C>T (p.Tyr351=)	dbSNP gnomAD v3 gnomAD v4
22	g.42060972G>C	CA411766126	NAGA	c.1053C>G (p.Tyr351Ter)
22	g.42060972G=	CA2406547718	NAGA	c.1053C= (p.Tyr351=)
22	g.42060972G>T	CA411766127	NAGA	c.1053C>A (p.Tyr351Ter)
22	g.42060973T>A	CA411766128	NAGA	c.1052A>T (p.Tyr351Phe)
22	g.42060973T>C	CA411766130	NAGA	c.1052A>G (p.Tyr351Cys)
22	g.42060973T>G	CA411766129	NAGA	c.1052A>C (p.Tyr351Ser)
22	g.42060974A>C	CA411766131	NAGA	c.1051T>G (p.Tyr351Asp)
22	g.42060974A>G	CA411766133	NAGA	c.1051T>C (p.Tyr351His)	COSMIC
22	g.42060974A>T	CA411766132	NAGA	c.1051T>A (p.Tyr351Asn)
22	g.42060975G>A	CA514676503	NAGA	c.1050C>T (p.Arg350=)
22	g.42060975G>C	CA514676504	NAGA	c.1050C>G (p.Arg350=)
22	g.42060975G>T	CA514676505	NAGA	c.1050C>A (p.Arg350=)
22	g.42060976C>A	CA411766134	NAGA	c.1049G>T (p.Arg350Leu)
22	g.42060976C=	CA2406547719	NAGA	c.1049G= (p.Arg350=)
22	g.42060976C>G	CA411766138	NAGA	c.1049G>C (p.Arg350Pro)
22	g.42060976C>T	CA10263615	NAGA	c.1049G>A (p.Arg350His)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42060977G>A	CA411766141	NAGA	c.1048C>T (p.Arg350Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060977G>C	CA411766143	NAGA	c.1048C>G (p.Arg350Gly)
22	g.42060977G=	CA2406547720	NAGA	c.1048C= (p.Arg350=)
22	g.42060977G>T	CA411766146	NAGA	c.1048C>A (p.Arg350Ser)	gnomAD v4
22	g.42060978A>C	CA411766149	NAGA	c.1047T>G (p.Tyr349Ter)	ClinVar
22	g.42060978A>G	CA514676506	NAGA	c.1047T>C (p.Tyr349=)
22	g.42060978A>T	CA411766151	NAGA	c.1047T>A (p.Tyr349Ter)
22	g.42060979T>A	CA10263616	NAGA	c.1046A>T (p.Tyr349Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060979T>C	CA411766155	NAGA	c.1046A>G (p.Tyr349Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.42060979T>G	CA411766157	NAGA	c.1046A>C (p.Tyr349Ser)
22	g.42060979T=	CA2406547721	NAGA	c.1046A= (p.Tyr349=)
22	g.42060980A=	CA2406547722	NAGA	c.1045T= (p.Tyr349=)
22	g.42060980A>C	CA411766161	NAGA	c.1045T>G (p.Tyr349Asp)
22	g.42060980A>G	CA10263617	NAGA	c.1045T>C (p.Tyr349His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060980A>T	CA411766165	NAGA	c.1045T>A (p.Tyr349Asn)
22	g.42060981A>C	CA514676507	NAGA	c.1044T>G (p.Pro348=)
22	g.42060981A>G	CA514676509	NAGA	c.1044T>C (p.Pro348=)
22	g.42060981A>T	CA514676508	NAGA	c.1044T>A (p.Pro348=)
22	g.42060982G>A	CA411766172	NAGA	c.1043C>T (p.Pro348Leu)
22	g.42060982G>C	CA411766170	NAGA	c.1043C>G (p.Pro348Arg)
22	g.42060982G>T	CA411766169	NAGA	c.1043C>A (p.Pro348His)
22	g.42060983dup	CA2657021383	NAGA	c.1043dup (p.Tyr349LeufsTer19)	gnomAD v4
22	g.42060983del	CA2819057006	NAGA	c.1043del (p.Pro348LeufsTer11)
22	g.42060983G>A	CA411766175	NAGA	c.1042C>T (p.Pro348Ser)	COSMIC
22	g.42060983G>C	CA411766177	NAGA	c.1042C>G (p.Pro348Ala)	dbSNP gnomAD v3 gnomAD v4
22	g.42060983G=	CA2406547723	NAGA	c.1042C= (p.Pro348=)
22	g.42060983G>T	CA411766180	NAGA	c.1042C>A (p.Pro348Thr)
22	g.42060984C>A	CA411766183	NAGA	c.1041G>T (p.Met347Ile)
22	g.42060984C>G	CA411766186	NAGA	c.1041G>C (p.Met347Ile)
22	g.42060984C>T	CA411766188	NAGA	c.1041G>A (p.Met347Ile)
22	g.42060985A=	CA2406547724	NAGA	c.1040T= (p.Met347=)
22	g.42060985A>C	CA411766191	NAGA	c.1040T>G (p.Met347Arg)
22	g.42060985A>G	CA10263618	NAGA	c.1040T>C (p.Met347Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060985A>T	CA411766196	NAGA	c.1040T>A (p.Met347Lys)
22	g.42060986T>A	CA411766200	NAGA	c.1039A>T (p.Met347Leu)
22	g.42060986T>C	CA411766202	NAGA	c.1039A>G (p.Met347Val)	dbSNP
22	g.42060986T>G	CA411766204	NAGA	c.1039A>C (p.Met347Leu)
22	g.42060986T=	CA2406547726	NAGA	c.1039A= (p.Met347=)
22	g.42060986dup	CA2406547725	NAGA	c.1039dup (p.Met347AsnfsTer21)	dbSNP
22	g.42060987A>C	CA411766207	NAGA	c.1038T>G (p.Asp346Glu)
22	g.42060987A>G	CA514676510	NAGA	c.1038T>C (p.Asp346=)	gnomAD v4
22	g.42060987A>T	CA411766209	NAGA	c.1038T>A (p.Asp346Glu)
22	g.42060988T>A	CA411766211	NAGA	c.1037A>T (p.Asp346Val)
22	g.42060988T>C	CA411766213	NAGA	c.1037A>G (p.Asp346Gly)	gnomAD v4
22	g.42060988T>G	CA411766215	NAGA	c.1037A>C (p.Asp346Ala)
22	g.42060989C>A	CA411766219	NAGA	c.1036G>T (p.Asp346Tyr)
22	g.42060989C=	CA2406547727	NAGA	c.1036G= (p.Asp346=)
22	g.42060989C>G	CA411766221	NAGA	c.1036G>C (p.Asp346His)	dbSNP gnomAD v3 gnomAD v4
22	g.42060989C>T	CA10263619	NAGA	c.1036G>A (p.Asp346Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060990G>A	CA10263620	NAGA	c.1035C>T (p.Thr345=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42060990G>C	CA514676511	NAGA	c.1035C>G (p.Thr345=)	gnomAD v4
22	g.42060990G=	CA2406547728	NAGA	c.1035C= (p.Thr345=)
22	g.42060990G>T	CA514676512	NAGA	c.1035C>A (p.Thr345=)
22	g.42060991G>A	CA411766229	NAGA	c.1034C>T (p.Thr345Ile)	gnomAD v4 COSMIC
22	g.42060991G>C	CA411766230	NAGA	c.1034C>G (p.Thr345Ser)
22	g.42060991G>T	CA411766233	NAGA	c.1034C>A (p.Thr345Asn)	gnomAD v4
22	g.42060992T>A	CA411766236	NAGA	c.1033A>T (p.Thr345Ser)
22	g.42060992T>C	CA411766238	NAGA	c.1033A>G (p.Thr345Ala)
22	g.42060992T>G	CA411766239	NAGA	c.1033A>C (p.Thr345Pro)
22	g.42060993C>A	CA411766244	NAGA	c.1032G>T (p.Arg344Ser)
22	g.42060993C>G	CA411766241	NAGA	c.1032G>C (p.Arg344Ser)
22	g.42060993C>T	CA514676513	NAGA	c.1032G>A (p.Arg344=)	gnomAD v4
22	g.42060994C>A	CA411766248	NAGA	c.1031G>T (p.Arg344Met)
22	g.42060994C>G	CA411766250	NAGA	c.1031G>C (p.Arg344Thr)
22	g.42060994C>T	CA411766252	NAGA	c.1031G>A (p.Arg344Lys)
22	g.42060995T>A	CA411766255	NAGA	c.1030A>T (p.Arg344Trp)
22	g.42060995T>C	CA411766257	NAGA	c.1030A>G (p.Arg344Gly)	gnomAD v4 COSMIC
22	g.42060995T>G	CA514676514	NAGA	c.1030A>C (p.Arg344=)
22	g.42060996G>A	CA514676515	NAGA	c.1029C>T (p.Cys343=)
22	g.42060996G>C	CA411766260	NAGA	c.1029C>G (p.Cys343Trp)
22	g.42060996G>T	CA411766262	NAGA	c.1029C>A (p.Cys343Ter)	ClinVar gnomAD v4
22	g.42060997C>A	CA411766264	NAGA	c.1028G>T (p.Cys343Phe)
22	g.42060997C>G	CA411766265	NAGA	c.1028G>C (p.Cys343Ser)
22	g.42060997C>T	CA411766266	NAGA	c.1028G>A (p.Cys343Tyr)
22	g.42060998A>C	CA411766267	NAGA	c.1027T>G (p.Cys343Gly)
22	g.42060998A>G	CA411766268	NAGA	c.1027T>C (p.Cys343Arg)	dbSNP
22	g.42060998A>T	CA411766269	NAGA	c.1027T>A (p.Cys343Ser)
22	g.42060999G>A	CA514676516	NAGA	c.1026C>T (p.Ser342=)
22	g.42060999G>C	CA411766271	NAGA	c.1026C>G (p.Ser342Arg)
22	g.42060999G>T	CA411766270	NAGA	c.1026C>A (p.Ser342Arg)
22	g.42061000C>A	CA411766272	NAGA	c.1025G>T (p.Ser342Ile)	dbSNP gnomAD v3 gnomAD v4
22	g.42061000C=	CA2406547729	NAGA	c.1025G= (p.Ser342=)
22	g.42061000C>G	CA411766273	NAGA	c.1025G>C (p.Ser342Thr)
22	g.42061000C>T	CA411766274	NAGA	c.1025G>A (p.Ser342Asn)
22	g.42061001T>A	CA411766275	NAGA	c.1024A>T (p.Ser342Cys)
22	g.42061001T>C	CA411766276	NAGA	c.1024A>G (p.Ser342Gly)
22	g.42061001T>G	CA411766277	NAGA	c.1024A>C (p.Ser342Arg)
22	g.42061001_42061004delinsTGAA	CA2406547730	NAGA	c.1021_1024delinsTTCA (p.Phe341=)
22	g.42061002G>A	CA514676517	NAGA	c.1023C>T (p.Phe341=)	gnomAD v4
22	g.42061002G>C	CA411766278	NAGA	c.1023C>G (p.Phe341Leu)
22	g.42061002G>T	CA411766279	NAGA	c.1023C>A (p.Phe341Leu)
22	g.42061007_42061009del	CA2406547731	NAGA	c.1021_1023del (p.Phe341del)	dbSNP
22	g.42061003A>C	CA411766280	NAGA	c.1022T>G (p.Phe341Cys)
22	g.42061003A>G	CA411766281	NAGA	c.1022T>C (p.Phe341Ser)
22	g.42061003A>T	CA411766282	NAGA	c.1022T>A (p.Phe341Tyr)
22	g.42061004A>C	CA411766283	NAGA	c.1021T>G (p.Phe341Val)
22	g.42061004A>G	CA411766284	NAGA	c.1021T>C (p.Phe341Leu)
22	g.42061004A>T	CA411766285	NAGA	c.1021T>A (p.Phe341Ile)
22	g.42061005G>A	CA514676518	NAGA	c.1020C>T (p.Phe340=)	gnomAD v4
22	g.42061005G>C	CA411766287	NAGA	c.1020C>G (p.Phe340Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.42061005G=	CA2406547732	NAGA	c.1020C= (p.Phe340=)
22	g.42061005G>T	CA411766286	NAGA	c.1020C>A (p.Phe340Leu)
22	g.42061006A=	CA2406547733	NAGA	c.1019T= (p.Phe340=)
22	g.42061006A>C	CA411766288	NAGA	c.1019T>G (p.Phe340Cys)
22	g.42061006A>G	CA10263621	NAGA	c.1019T>C (p.Phe340Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061006A>T	CA411766289	NAGA	c.1019T>A (p.Phe340Tyr)
22	g.42061007A>C	CA411766290	NAGA	c.1018T>G (p.Phe340Val)
22	g.42061007A>G	CA411766291	NAGA	c.1018T>C (p.Phe340Leu)
22	g.42061007A>T	CA411766292	NAGA	c.1018T>A (p.Phe340Ile)
22	g.42061007_42061008insCTGGATGATAAAATCATTGAATTGATTGAAACTGAAATTAAATACGAAGGCTATATCTCAAAAGCAATGGACCAAGTCGAAAAAATGAAGCGTATGGAAGAAAAACGAATTCCTGCGAATATT	CA514676521	NAGA	c.1017_1018insAATATTCGCAGGAATTCGTTTTTCTTCCATACGCTTCATTTTTTCGACTTGGTCCATTGCTTTTGAGATATAGCCTTCGTATTTAATTTCAGTTTCAATCAATTCAATGATTTTATCATCCAG
22	g.42061008G>A	CA324650183	NAGA	c.1017C>T (p.Val339=)	dbSNP gnomAD v4
22	g.42061008G>C	CA514676519	NAGA	c.1017C>G (p.Val339=)
22	g.42061008G=	CA2406547734	NAGA	c.1017C= (p.Val339=)
22	g.42061008G>T	CA514676520	NAGA	c.1017C>A (p.Val339=)
22	g.42061009A>C	CA411766295	NAGA	c.1016T>G (p.Val339Gly)
22	g.42061009A>G	CA411766293	NAGA	c.1016T>C (p.Val339Ala)
22	g.42061009A>T	CA411766294	NAGA	c.1016T>A (p.Val339Asp)
22	g.42061010C>A	CA411766296	NAGA	c.1015G>T (p.Val339Phe)
22	g.42061010C>G	CA411766297	NAGA	c.1015G>C (p.Val339Leu)	dbSNP
22	g.42061010C>T	CA411766298	NAGA	c.1015G>A (p.Val339Ile)
22	g.42061011T>A	CA411766299	NAGA	c.1014A>T (p.Leu338Phe)
22	g.42061011T>C	CA514676522	NAGA	c.1014A>G (p.Leu338=)
22	g.42061011T>G	CA411766300	NAGA	c.1014A>C (p.Leu338Phe)
22	g.42061012A=	CA2406547735	NAGA	c.1013T= (p.Leu338=)
22	g.42061012A>C	CA411766302	NAGA	c.1013T>G (p.Leu338Ter)
22	g.42061012A>G	CA10263622	NAGA	c.1013T>C (p.Leu338Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061012A>T	CA411766301	NAGA	c.1013T>A (p.Leu338Ter)
22	g.42061013A>C	CA411766303	NAGA	c.1012T>G (p.Leu338Val)
22	g.42061013A>G	CA514676523	NAGA	c.1012T>C (p.Leu338=)
22	g.42061013A>T	CA411766304	NAGA	c.1012T>A (p.Leu338Ile)
22	g.42061014G>A	CA514676527	NAGA	c.1011C>T (p.Ala337=)	gnomAD v4
22	g.42061014G>C	CA514676528	NAGA	c.1011C>G (p.Ala337=)	gnomAD v4
22	g.42061014G>T	CA514676530	NAGA	c.1011C>A (p.Ala337=)
22	g.42061015G>A	CA411766305	NAGA	c.1010C>T (p.Ala337Val)
22	g.42061015G>C	CA411766306	NAGA	c.1010C>G (p.Ala337Gly)
22	g.42061015G>T	CA411766307	NAGA	c.1010C>A (p.Ala337Asp)
22	g.42061016C>A	CA411766309	NAGA	c.1009G>T (p.Ala337Ser)
22	g.42061016C=	CA2406547736	NAGA	c.1009G= (p.Ala337=)
22	g.42061016C>G	CA411766308	NAGA	c.1009G>C (p.Ala337Pro)
22	g.42061016C>T	CA10263623	NAGA	c.1009G>A (p.Ala337Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22	g.42061017G>A	CA10263624	NAGA	c.1008C>T (p.Ser336=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061017G>C	CA411766310	NAGA	c.1008C>G (p.Ser336Arg)
22	g.42061017G=	CA2406547737	NAGA	c.1008C= (p.Ser336=)
22	g.42061017G>T	CA411766311	NAGA	c.1008C>A (p.Ser336Arg)
22	g.42061018C>A	CA411766312	NAGA	c.1007G>T (p.Ser336Ile)
22	g.42061018C>G	CA411766313	NAGA	c.1007G>C (p.Ser336Thr)
22	g.42061018C>T	CA411766314	NAGA	c.1007G>A (p.Ser336Asn)
22	g.42061019T>A	CA411766315	NAGA	c.1006A>T (p.Ser336Cys)
22	g.42061019T>C	CA411766317	NAGA	c.1006A>G (p.Ser336Gly)
22	g.42061019T>G	CA411766316	NAGA	c.1006A>C (p.Ser336Arg)
22	g.42061019T=	CA2406547738	NAGA	c.1006A= (p.Ser336=)
22	g.42061020A>C	CA514676534	NAGA	c.1005T>G (p.Ala335=)
22	g.42061020A>G	CA514676535	NAGA	c.1005T>C (p.Ala335=)	gnomAD v4
22	g.42061020A>T	CA514676536	NAGA	c.1005T>A (p.Ala335=)
22	g.42061020dup	CA1025941929	NAGA	c.1005dup (p.Ser336Ter)	dbSNP gnomAD v3 gnomAD v4
22	g.42061021G>A	CA411766318	NAGA	c.1004C>T (p.Ala335Val)	dbSNP
22	g.42061021G>C	CA411766319	NAGA	c.1004C>G (p.Ala335Gly)
22	g.42061021G=	CA2406547739	NAGA	c.1004C= (p.Ala335=)
22	g.42061021G>T	CA411766320	NAGA	c.1004C>A (p.Ala335Asp)
22	g.42061022C>A	CA411766321	NAGA	c.1003G>T (p.Ala335Ser)	dbSNP
22	g.42061022C=	CA2406547740	NAGA	c.1003G= (p.Ala335=)
22	g.42061022C>G	CA411766322	NAGA	c.1003G>C (p.Ala335Pro)
22	g.42061022C>T	CA411766323	NAGA	c.1003G>A (p.Ala335Thr)	dbSNP
22	g.42061023C>A	CA411766324	NAGA	c.1002G>T (p.Lys334Asn)
22	g.42061023C=	CA2406547741	NAGA	c.1002G= (p.Lys334=)
22	g.42061023C>G	CA411766325	NAGA	c.1002G>C (p.Lys334Asn)	dbSNP
22	g.42061023C>T	CA514676538	NAGA	c.1002G>A (p.Lys334=)
22	g.42061024T>A	CA411766326	NAGA	c.1001A>T (p.Lys334Met)
22	g.42061024T>C	CA411766327	NAGA	c.1001A>G (p.Lys334Arg)
22	g.42061024T>G	CA411766328	NAGA	c.1001A>C (p.Lys334Thr)
22	g.42061025T>A	CA411766329	NAGA	c.1000A>T (p.Lys334Ter)
22	g.42061025T>C	CA411766331	NAGA	c.1000A>G (p.Lys334Glu)	gnomAD v4
22	g.42061025T>G	CA411766330	NAGA	c.1000A>C (p.Lys334Gln)	dbSNP gnomAD v4
22	g.42061025T=	CA2406547742	NAGA	c.1000A= (p.Lys334=)
22	g.42061026G>A	CA514676539	NAGA	c.999C>T (p.Asn333=)	dbSNP COSMIC
22	g.42061026G>C	CA411766332	NAGA	c.999C>G (p.Asn333Lys)	gnomAD v4
22	g.42061026G=	CA2406547743	NAGA	c.999C= (p.Asn333=)
22	g.42061026G>T	CA411766333	NAGA	c.999C>A (p.Asn333Lys)
22	g.42061027T>A	CA411766334	NAGA	c.998A>T (p.Asn333Ile)
22	g.42061027T>C	CA411766335	NAGA	c.998A>G (p.Asn333Ser)	dbSNP gnomAD v4
22	g.42061027T>G	CA411766336	NAGA	c.998A>C (p.Asn333Thr)
22	g.42061027T=	CA2406547744	NAGA	c.998A= (p.Asn333=)
22	g.42061028T>A	CA411766337	NAGA	c.997A>T (p.Asn333Tyr)
22	g.42061028T>C	CA411766338	NAGA	c.997A>G (p.Asn333Asp)
22	g.42061028T>G	CA411766339	NAGA	c.997A>C (p.Asn333His)
22	g.42061029G>A	CA514676542	NAGA	c.996C>T (p.Ser332=)
22	g.42061029G>C	CA514676540	NAGA	c.996C>G (p.Ser332=)
22	g.42061029G>T	CA514676541	NAGA	c.996C>A (p.Ser332=)
22	g.42061030G>A	CA411766340	NAGA	c.995C>T (p.Ser332Phe)	gnomAD v4
22	g.42061030G>C	CA411766341	NAGA	c.995C>G (p.Ser332Cys)	gnomAD v4
22	g.42061030G>T	CA411766342	NAGA	c.995C>A (p.Ser332Tyr)
22	g.42061031A>C	CA411766343	NAGA	c.994T>G (p.Ser332Ala)
22	g.42061031A>G	CA411766344	NAGA	c.994T>C (p.Ser332Pro)
22	g.42061031A>T	CA411766345	NAGA	c.994T>A (p.Ser332Thr)
22	g.42061032C>A	CA10263625	NAGA	c.993G>T (p.Leu331=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061032C=	CA2406547745	NAGA	c.993G= (p.Leu331=)
22	g.42061032C>G	CA514676543	NAGA	c.993G>C (p.Leu331=)
22	g.42061032C>T	CA514676544	NAGA	c.993G>A (p.Leu331=)
22	g.42061033A>C	CA411766348	NAGA	c.992T>G (p.Leu331Arg)
22	g.42061033A>G	CA411766346	NAGA	c.992T>C (p.Leu331Pro)
22	g.42061033A>T	CA411766347	NAGA	c.992T>A (p.Leu331Gln)
22	g.42061034G>A	CA10263626	NAGA	c.991C>T (p.Leu331=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061034G>C	CA411766349	NAGA	c.991C>G (p.Leu331Val)
22	g.42061034G=	CA2406547746	NAGA	c.991C= (p.Leu331=)
22	g.42061034G>T	CA411766350	NAGA	c.991C>A (p.Leu331Met)	dbSNP
22	g.42061035A>C	CA514676545	NAGA	c.990T>G (p.Pro330=)
22	g.42061035A>G	CA514676546	NAGA	c.990T>C (p.Pro330=)
22	g.42061035A>T	CA514676547	NAGA	c.990T>A (p.Pro330=)
22	g.42061036G>A	CA411766351	NAGA	c.989C>T (p.Pro330Leu)	dbSNP
22	g.42061036G>C	CA411766352	NAGA	c.989C>G (p.Pro330Arg)
22	g.42061036G=	CA2406547747	NAGA	c.989C= (p.Pro330=)
22	g.42061036G>T	CA411766353	NAGA	c.989C>A (p.Pro330His)
22	g.42061037G>A	CA411766354	NAGA	c.988C>T (p.Pro330Ser)
22	g.42061037G>C	CA411766355	NAGA	c.988C>G (p.Pro330Ala)
22	g.42061037G>T	CA411766356	NAGA	c.988C>A (p.Pro330Thr)
22	g.42061038C>A	CA514676548	NAGA	c.987G>T (p.Arg329=)
22	g.42061038C>G	CA514676550	NAGA	c.987G>C (p.Arg329=)
22	g.42061038C>T	CA514676549	NAGA	c.987G>A (p.Arg329=)	dbSNP gnomAD v4
22	g.42061039C>A	CA411766357	NAGA	c.986G>T (p.Arg329Leu)
22	g.42061039C=	CA2406547748	NAGA	c.986G= (p.Arg329=)
22	g.42061039C>G	CA411766358	NAGA	c.986G>C (p.Arg329Pro)
22	g.42061039C>T	CA127853	NAGA	c.986G>A (p.Arg329Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061040G>A	CA127849	NAGA	c.985C>T (p.Arg329Trp)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.42061040G>C	CA411766359	NAGA	c.985C>G (p.Arg329Gly)
22	g.42061040G=	CA2406547749	NAGA	c.985C= (p.Arg329=)
22	g.42061040G>T	CA514676551	NAGA	c.985C>A (p.Arg329=)	dbSNP gnomAD v4
22	g.42061041C>A	CA411766360	NAGA	c.984G>T (p.Met328Ile)
22	g.42061041C=	CA2406547750	NAGA	c.984G= (p.Met328=)
22	g.42061041C>G	CA411766361	NAGA	c.984G>C (p.Met328Ile)
22	g.42061041C>T	CA411766362	NAGA	c.984G>A (p.Met328Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061042A=	CA2406547751	NAGA	c.983T= (p.Met328=)
22	g.42061042A>C	CA411766363	NAGA	c.983T>G (p.Met328Arg)
22	g.42061042A>G	CA10263627	NAGA	c.983T>C (p.Met328Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061042A>T	CA411766364	NAGA	c.983T>A (p.Met328Lys)
22	g.42061043T>A	CA411766367	NAGA	c.982A>T (p.Met328Leu)	gnomAD v4
22	g.42061043T>C	CA411766365	NAGA	c.982A>G (p.Met328Val)
22	g.42061043T>G	CA411766366	NAGA	c.982A>C (p.Met328Leu)
22	g.42061044G>A	CA514676552	NAGA	c.981C>T (p.Tyr327=)	dbSNP gnomAD v2
22	g.42061044G>C	CA411766368	NAGA	c.981C>G (p.Tyr327Ter)
22	g.42061044G=	CA2406547752	NAGA	c.981C= (p.Tyr327=)
22	g.42061044G>T	CA411766369	NAGA	c.981C>A (p.Tyr327Ter)
22	g.42061045T>A	CA411766370	NAGA	c.980A>T (p.Tyr327Phe)
22	g.42061045T>C	CA10263628	NAGA	c.980A>G (p.Tyr327Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061045T>G	CA411766371	NAGA	c.980A>C (p.Tyr327Ser)
22	g.42061045T=	CA2406547753	NAGA	c.980A= (p.Tyr327=)
22	g.42061046A>C	CA411766374	NAGA	c.979T>G (p.Tyr327Asp)
22	g.42061046A>G	CA411766372	NAGA	c.979T>C (p.Tyr327His)
22	g.42061046A>T	CA411766373	NAGA	c.979T>A (p.Tyr327Asn)
22	g.42061047C>A	CA514676553	NAGA	c.978G>T (p.Val326=)
22	g.42061047C=	CA2406547754	NAGA	c.978G= (p.Val326=)
22	g.42061047C>G	CA514676554	NAGA	c.978G>C (p.Val326=)
22	g.42061047C>T	CA324650218	NAGA	c.978G>A (p.Val326=)	dbSNP gnomAD v3 gnomAD v4
22	g.42061048A=	CA2406547755	NAGA	c.977T= (p.Val326=)
22	g.42061048A>C	CA411766375	NAGA	c.977T>G (p.Val326Gly)
22	g.42061048A>G	CA10263629	NAGA	c.977T>C (p.Val326Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061048A>T	CA411766376	NAGA	c.977T>A (p.Val326Glu)
22	g.42061049C>A	CA411766377	NAGA	c.976G>T (p.Val326Leu)
22	g.42061049C=	CA2406547756	NAGA	c.976G= (p.Val326=)
22	g.42061049C>G	CA411766378	NAGA	c.976G>C (p.Val326Leu)
22	g.42061049C>T	CA411766379	NAGA	c.976G>A (p.Val326Met)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061050T>A	CA411766380	NAGA	c.975A>T (p.Glu325Asp)
22	g.42061050T>C	CA514676558	NAGA	c.975A>G (p.Glu325=)
22	g.42061050T>G	CA411766381	NAGA	c.975A>C (p.Glu325Asp)
22	g.42061051T>A	CA411766382	NAGA	c.974A>T (p.Glu325Val)
22	g.42061051T>C	CA411766383	NAGA	c.974A>G (p.Glu325Gly)
22	g.42061051T>G	CA411766384	NAGA	c.974A>C (p.Glu325Ala)
22	g.42061052del	CA2577736657	NAGA	c.973del (p.Glu325LysfsTer14)
22	g.42061052C>A	CA411766385	NAGA	c.973G>T (p.Glu325Ter)	gnomAD v4
22	g.42061052C=	CA2406547757	NAGA	c.973G= (p.Glu325=)
22	g.42061052C>G	CA411766386	NAGA	c.973G>C (p.Glu325Gln)
22	g.42061052C>T	CA127848	NAGA	c.973G>A (p.Glu325Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061053G>A	CA10263630	NAGA	c.972C>T (p.Ile324=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.42061053G>C	CA10263631	NAGA	c.972C>G (p.Ile324Met)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.42061053G=	CA2406547758	NAGA	c.972C= (p.Ile324=)
22	g.42061053G>T	CA514676563	NAGA	c.972C>A (p.Ile324=)
22	g.42061054A>C	CA411766387	NAGA	c.971T>G (p.Ile324Ser)
22	g.42061054A>G	CA411766388	NAGA	c.971T>C (p.Ile324Thr)
22	g.42061054A>T	CA411766389	NAGA	c.971T>A (p.Ile324Asn)
22	g.42061055T>A	CA411766390	NAGA	c.970A>T (p.Ile324Phe)
22	g.42061055T>C	CA411766391	NAGA	c.970A>G (p.Ile324Val)
22	g.42061055T>G	CA411766392	NAGA	c.970A>C (p.Ile324Leu)
22	g.42061056G>A	CA514676566	NAGA	c.969C>T (p.Leu323=)
22	g.42061056G>C	CA514676567	NAGA	c.969C>G (p.Leu323=)	dbSNP gnomAD v3 gnomAD v4
22	g.42061056G=	CA2406547759	NAGA	c.969C= (p.Leu323=)
22	g.42061056G>T	CA514676568	NAGA	c.969C>A (p.Leu323=)
22	g.42061060_42061061del	CA2697552786	NAGA	c.968_969del (p.Leu323HisfsTer13)	ClinVar
22	g.42061057A=	CA2406547761	NAGA	c.968T= (p.Leu323=)
22	g.42061057A>C	CA411766393	NAGA	c.968T>G (p.Leu323Arg)
22	g.42061057A>G	CA411766394	NAGA	c.968T>C (p.Leu323Pro)	dbSNP gnomAD v2 gnomAD v4
22	g.42061057A>T	CA411766395	NAGA	c.968T>A (p.Leu323His)
22	g.42061057dup	CA2406547760	NAGA	c.968dup (p.Ile324HisfsTer13)	dbSNP gnomAD v4
22	g.42061058G>A	CA411766396	NAGA	c.967C>T (p.Leu323Phe)
22	g.42061058G>C	CA411766397	NAGA	c.967C>G (p.Leu323Val)
22	g.42061058G>T	CA411766398	NAGA	c.967C>A (p.Leu323Ile)
22	g.42061059A>C	CA514676576	NAGA	c.966T>G (p.Ser322=)
22	g.42061059A>G	CA514676577	NAGA	c.966T>C (p.Ser322=)	gnomAD v4
22	g.42061059A>T	CA514676575	NAGA	c.966T>A (p.Ser322=)
22	g.42061060G>A	CA411766401	NAGA	c.965C>T (p.Ser322Phe)
22	g.42061060G>C	CA411766399	NAGA	c.965C>G (p.Ser322Cys)
22	g.42061060G>T	CA411766400	NAGA	c.965C>A (p.Ser322Tyr)	gnomAD v4
22	g.42061061A=	CA2406547762	NAGA	c.964T= (p.Ser322=)
22	g.42061061A>C	CA411766402	NAGA	c.964T>G (p.Ser322Ala)
22	g.42061061A>G	CA411766403	NAGA	c.964T>C (p.Ser322Pro)
22	g.42061061A>T	CA411766404	NAGA	c.964T>A (p.Ser322Thr)	dbSNP gnomAD v4
22	g.42061062T>A	CA411766405	NAGA	c.963A>T (p.Lys321Asn)
22	g.42061062T>C	CA514676579	NAGA	c.963A>G (p.Lys321=)
22	g.42061062T>G	CA411766406	NAGA	c.963A>C (p.Lys321Asn)
22	g.42061066dup	CA2819057007	NAGA	c.963dup (p.Ser322IlefsTer15)
22	g.42061066del	CA2577736658	NAGA	c.963del (p.Lys321AsnfsTer18)
22	g.42061065_42061066del	CA2657021384	NAGA	c.962_963del (p.Lys321IlefsTer15)	gnomAD v4
22	g.42061063T>A	CA411766407	NAGA	c.962A>T (p.Lys321Ile)	gnomAD v4
22	g.42061063T>C	CA411766408	NAGA	c.962A>G (p.Lys321Arg)
22	g.42061063T>G	CA411766409	NAGA	c.962A>C (p.Lys321Thr)	COSMIC
22	g.42061064T>A	CA411766410	NAGA	c.961A>T (p.Lys321Ter)
22	g.42061064T>C	CA411766411	NAGA	c.961A>G (p.Lys321Glu)
22	g.42061064T>G	CA411766412	NAGA	c.961A>C (p.Lys321Gln)
22	g.42061065T>A	CA411766414	NAGA	c.960A>T (p.Glu320Asp)
22	g.42061065T>C	CA514676582	NAGA	c.960A>G (p.Glu320=)
22	g.42061065T>G	CA411766413	NAGA	c.960A>C (p.Glu320Asp)
22	g.42061066T>A	CA411766415	NAGA	c.959A>T (p.Glu320Val)	dbSNP
22	g.42061066T>C	CA411766416	NAGA	c.959A>G (p.Glu320Gly)
22	g.42061066T>G	CA411766417	NAGA	c.959A>C (p.Glu320Ala)
22	g.42061066T=	CA2406547763	NAGA	c.959A= (p.Glu320=)
22	g.42061067C>A	CA411766418	NAGA	c.958G>T (p.Glu320Ter)
22	g.42061067C=	CA2406547764	NAGA	c.958G= (p.Glu320=)
22	g.42061067C>G	CA411766419	NAGA	c.958G>C (p.Glu320Gln)
22	g.42061067C>T	CA411766420	NAGA	c.958G>A (p.Glu320Lys)	dbSNP gnomAD v3 gnomAD v4
22	g.42061068C>A	CA411766421	NAGA	c.958-1G>T (n.958-1G>T)
22	g.42061068C>G	CA411766422	NAGA	c.958-1G>C (n.958-1G>C)
22	g.42061068C>T	CA411766423	NAGA	c.958-1G>A (n.958-1G>A)	gnomAD v4

Number of alleles fetched