Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63971763C>A	CA501226960	SCN4A	c.570G>T (p.Arg190=)
17	g.63971763C>G	CA501226962	SCN4A	c.570G>C (p.Arg190=)
17	g.63971763C>T	CA501226964	SCN4A	c.570G>A (p.Arg190=)
17	g.63971764C>A	CA400639011	SCN4A	c.569G>T (p.Arg190Leu)
17	g.63971764C=	CA2270175515	SCN4A	c.569G= (p.Arg190=)
17	g.63971764C>G	CA400639013	SCN4A	c.569G>C (p.Arg190Pro)
17	g.63971764C>T	CA8710113	SCN4A	c.569G>A (p.Arg190Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971765G>A	CA8710114	SCN4A	c.568C>T (p.Arg190Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63971765G>C	CA400639016	SCN4A	c.568C>G (p.Arg190Gly)
17	g.63971765G=	CA2270175516	SCN4A	c.568C= (p.Arg190=)
17	g.63971765G>T	CA501226966	SCN4A	c.568C>A (p.Arg190=)
17	g.63971766G>A	CA501226967	SCN4A	c.567C>T (p.Leu189=)	gnomAD v4
17	g.63971766G>C	CA501226969	SCN4A	c.567C>G (p.Leu189=)
17	g.63971766G=	CA2270175517	SCN4A	c.567C= (p.Leu189=)
17	g.63971766G>T	CA8710115	SCN4A	c.567C>A (p.Leu189=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971767A>C	CA400639018	SCN4A	c.566T>G (p.Leu189Arg)
17	g.63971767A>G	CA400639019	SCN4A	c.566T>C (p.Leu189Pro)
17	g.63971767A>T	CA400639021	SCN4A	c.566T>A (p.Leu189His)
17	g.63971768G>A	CA400639023	SCN4A	c.565C>T (p.Leu189Phe)
17	g.63971768G>C	CA400639025	SCN4A	c.565C>G (p.Leu189Val)
17	g.63971768G>T	CA400639027	SCN4A	c.565C>A (p.Leu189Ile)	gnomAD v4
17	g.63971769G>A	CA8710116	SCN4A	c.564C>T (p.Phe188=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63971769G>C	CA400639031	SCN4A	c.564C>G (p.Phe188Leu)
17	g.63971769G=	CA2270175518	SCN4A	c.564C= (p.Phe188=)
17	g.63971769G>T	CA400639029	SCN4A	c.564C>A (p.Phe188Leu)	dbSNP gnomAD v4
17	g.63971770A>C	CA400639033	SCN4A	c.563T>G (p.Phe188Cys)
17	g.63971770A>G	CA400639035	SCN4A	c.563T>C (p.Phe188Ser)
17	g.63971770A>T	CA400639037	SCN4A	c.563T>A (p.Phe188Tyr)
17	g.63971771A>C	CA400639039	SCN4A	c.562T>G (p.Phe188Val)
17	g.63971771A>G	CA400639041	SCN4A	c.562T>C (p.Phe188Leu)
17	g.63971771A>T	CA400639042	SCN4A	c.562T>A (p.Phe188Ile)
17	g.63971772T>A	CA501226974	SCN4A	c.561A>T (p.Thr187=)
17	g.63971772T>C	CA501226975	SCN4A	c.561A>G (p.Thr187=)
17	g.63971772T>G	CA501226976	SCN4A	c.561A>C (p.Thr187=)
17	g.63971773G>A	CA400639045	SCN4A	c.560C>T (p.Thr187Ile)
17	g.63971773G>C	CA400639048	SCN4A	c.560C>G (p.Thr187Arg)
17	g.63971773G>T	CA400639046	SCN4A	c.560C>A (p.Thr187Lys)
17	g.63971774T>A	CA400639050	SCN4A	c.559A>T (p.Thr187Ser)
17	g.63971774T>C	CA400639051	SCN4A	c.559A>G (p.Thr187Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.63971774T>G	CA400639053	SCN4A	c.559A>C (p.Thr187Pro)
17	g.63971774T=	CA2270175519	SCN4A	c.559A= (p.Thr187=)
17	g.63971775G>A	CA501226980	SCN4A	c.558C>T (p.Phe186=)
17	g.63971775G>C	CA400639055	SCN4A	c.558C>G (p.Phe186Leu)
17	g.63971775G>T	CA400639056	SCN4A	c.558C>A (p.Phe186Leu)
17	g.63971776A>C	CA400639061	SCN4A	c.557T>G (p.Phe186Cys)
17	g.63971776A>G	CA400639062	SCN4A	c.557T>C (p.Phe186Ser)
17	g.63971776A>T	CA400639059	SCN4A	c.557T>A (p.Phe186Tyr)
17	g.63971777A>C	CA400639067	SCN4A	c.556T>G (p.Phe186Val)	gnomAD v4
17	g.63971777A>G	CA400639065	SCN4A	c.556T>C (p.Phe186Leu)	gnomAD v4
17	g.63971777A>T	CA400639068	SCN4A	c.556T>A (p.Phe186Ile)
17	g.63971778G>A	CA501226982	SCN4A	c.555C>T (p.Asp185=)
17	g.63971778G>C	CA400639070	SCN4A	c.555C>G (p.Asp185Glu)
17	g.63971778G>T	CA400639072	SCN4A	c.555C>A (p.Asp185Glu)
17	g.63971779_63971784del	CA2639327646	SCN4A	c.550_555del (p.Asp184_Asp185del)	gnomAD v4
17	g.63971779T>A	CA400639074	SCN4A	c.554A>T (p.Asp185Val)	ClinVar
17	g.63971779T>C	CA400639076	SCN4A	c.554A>G (p.Asp185Gly)
17	g.63971779T>G	CA400639078	SCN4A	c.554A>C (p.Asp185Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63971779T=	CA2270175520	SCN4A	c.554A= (p.Asp185=)
17	g.63971780C>A	CA400639080	SCN4A	c.553G>T (p.Asp185Tyr)
17	g.63971780C=	CA2270175521	SCN4A	c.553G= (p.Asp185=)
17	g.63971780C>G	CA400639081	SCN4A	c.553G>C (p.Asp185His)
17	g.63971780C>T	CA245096	SCN4A	c.553G>A (p.Asp185Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63971781G>A	CA8710117	SCN4A	c.552C>T (p.Asp184=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63971781G>C	CA400639083	SCN4A	c.552C>G (p.Asp184Glu)
17	g.63971781G=	CA2270175522	SCN4A	c.552C= (p.Asp184=)
17	g.63971781G>T	CA400639084	SCN4A	c.552C>A (p.Asp184Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.63971782T>A	CA400639088	SCN4A	c.551A>T (p.Asp184Val)
17	g.63971782T>C	CA8710118	SCN4A	c.551A>G (p.Asp184Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971782T>G	CA400639086	SCN4A	c.551A>C (p.Asp184Ala)
17	g.63971782T=	CA2270175523	SCN4A	c.551A= (p.Asp184=)
17	g.63971783C>A	CA400639090	SCN4A	c.550G>T (p.Asp184Tyr)
17	g.63971783C=	CA2270175524	SCN4A	c.550G= (p.Asp184=)
17	g.63971783C>G	CA400639092	SCN4A	c.550G>C (p.Asp184His)
17	g.63971783C>T	CA292972691	SCN4A	c.550G>A (p.Asp184Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971784G>A	CA8710120	SCN4A	c.549C>T (p.Val183=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971784G>C	CA501226990	SCN4A	c.549C>G (p.Val183=)	gnomAD v4
17	g.63971784G=	CA2270175525	SCN4A	c.549C= (p.Val183=)
17	g.63971784G>T	CA8710119	SCN4A	c.549C>A (p.Val183=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971785A=	CA2270175526	SCN4A	c.548T= (p.Val183=)
17	g.63971785A>C	CA400639094	SCN4A	c.548T>G (p.Val183Gly)	ClinVar dbSNP gnomAD v4
17	g.63971785A>G	CA400639095	SCN4A	c.548T>C (p.Val183Ala)
17	g.63971785A>T	CA400639097	SCN4A	c.548T>A (p.Val183Asp)
17	g.63971786C>A	CA400639099	SCN4A	c.547G>T (p.Val183Phe)	gnomAD v4
17	g.63971786C>G	CA400639101	SCN4A	c.547G>C (p.Val183Leu)
17	g.63971786C>T	CA400639102	SCN4A	c.547G>A (p.Val183Ile)
17	g.63971787A=	CA2270175527	SCN4A	c.546T= (p.Cys182=)
17	g.63971787A>C	CA400639105	SCN4A	c.546T>G (p.Cys182Trp)
17	g.63971787A>G	CA501226993	SCN4A	c.546T>C (p.Cys182=)
17	g.63971787A>T	CA400639106	SCN4A	c.546T>A (p.Cys182Ter)	dbSNP
17	g.63971788C>A	CA400639111	SCN4A	c.545G>T (p.Cys182Phe)
17	g.63971788C>G	CA400639110	SCN4A	c.545G>C (p.Cys182Ser)
17	g.63971788C>T	CA400639108	SCN4A	c.545G>A (p.Cys182Tyr)	gnomAD v4
17	g.63971789A>C	CA400639117	SCN4A	c.544T>G (p.Cys182Gly)
17	g.63971789A>G	CA400639113	SCN4A	c.544T>C (p.Cys182Arg)	gnomAD v4
17	g.63971789A>T	CA400639115	SCN4A	c.544T>A (p.Cys182Ser)
17	g.63971790G>A	CA501226995	SCN4A	c.543C>T (p.Phe181=)
17	g.63971790G>C	CA400639119	SCN4A	c.543C>G (p.Phe181Leu)
17	g.63971790G>T	CA400639121	SCN4A	c.543C>A (p.Phe181Leu)
17	g.63971791A=	CA2270175528	SCN4A	c.542T= (p.Phe181=)
17	g.63971791A>C	CA400639123	SCN4A	c.542T>G (p.Phe181Cys)	COSMIC
17	g.63971791A>G	CA400639125	SCN4A	c.542T>C (p.Phe181Ser)	gnomAD v4
17	g.63971791A>T	CA400639126	SCN4A	c.542T>A (p.Phe181Tyr)	dbSNP gnomAD v2 gnomAD v4
17	g.63971792A>C	CA400639129	SCN4A	c.541T>G (p.Phe181Val)
17	g.63971792A>G	CA400639132	SCN4A	c.541T>C (p.Phe181Leu)
17	g.63971792A>T	CA400639130	SCN4A	c.541T>A (p.Phe181Ile)
17	g.63971793G>A	CA8710121	SCN4A	c.540C>T (p.Gly180=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971793G>C	CA501226997	SCN4A	c.540C>G (p.Gly180=)
17	g.63971793G=	CA2270175529	SCN4A	c.540C= (p.Gly180=)
17	g.63971793G>T	CA501226998	SCN4A	c.540C>A (p.Gly180=)
17	g.63971794C>A	CA400639136	SCN4A	c.539G>T (p.Gly180Val)
17	g.63971794C=	CA2270175530	SCN4A	c.539G= (p.Gly180=)
17	g.63971794C>G	CA400639137	SCN4A	c.539G>C (p.Gly180Ala)
17	g.63971794C>T	CA292972695	SCN4A	c.539G>A (p.Gly180Asp)	dbSNP
17	g.63971795C>A	CA400639140	SCN4A	c.538G>T (p.Gly180Cys)
17	g.63971795C>G	CA400639143	SCN4A	c.538G>C (p.Gly180Arg)
17	g.63971795C>T	CA400639142	SCN4A	c.538G>A (p.Gly180Ser)	gnomAD v4
17	g.63971796T>A	CA501227000	SCN4A	c.537A>T (p.Arg179=)	dbSNP
17	g.63971796T>C	CA501227001	SCN4A	c.537A>G (p.Arg179=)
17	g.63971796T>G	CA501227002	SCN4A	c.537A>C (p.Arg179=)
17	g.63971797C>A	CA400639146	SCN4A	c.536G>T (p.Arg179Leu)
17	g.63971797C=	CA2270175531	SCN4A	c.536G= (p.Arg179=)
17	g.63971797C>G	CA400639147	SCN4A	c.536G>C (p.Arg179Pro)
17	g.63971797C>T	CA8710122	SCN4A	c.536G>A (p.Arg179Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63971798G>A	CA400639149	SCN4A	c.535C>T (p.Arg179Ter)	dbSNP gnomAD v4
17	g.63971798G>C	CA400639150	SCN4A	c.535C>G (p.Arg179Gly)
17	g.63971798G=	CA2270175532	SCN4A	c.535C= (p.Arg179=)
17	g.63971798G>T	CA501227004	SCN4A	c.535C>A (p.Arg179=)
17	g.63971799G>A	CA501227005	SCN4A	c.534C>T (p.Ala178=)
17	g.63971799G>C	CA501227006	SCN4A	c.534C>G (p.Ala178=)
17	g.63971799G=	CA2270175533	SCN4A	c.534C= (p.Ala178=)
17	g.63971799G>T	CA8710123	SCN4A	c.534C>A (p.Ala178=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63971800G>A	CA400639153	SCN4A	c.533C>T (p.Ala178Val)
17	g.63971800G>C	CA400639155	SCN4A	c.533C>G (p.Ala178Gly)
17	g.63971800G>T	CA400639156	SCN4A	c.533C>A (p.Ala178Asp)
17	g.63971801C>A	CA400639159	SCN4A	c.532G>T (p.Ala178Ser)
17	g.63971801C=	CA2270175534	SCN4A	c.532G= (p.Ala178=)
17	g.63971801C>G	CA400639161	SCN4A	c.532G>C (p.Ala178Pro)
17	g.63971801C>T	CA400639162	SCN4A	c.532G>A (p.Ala178Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971802C>A	CA501227008	SCN4A	c.531G>T (p.Leu177=)	COSMIC
17	g.63971802C>G	CA501227009	SCN4A	c.531G>C (p.Leu177=)
17	g.63971802C>T	CA501227010	SCN4A	c.531G>A (p.Leu177=)
17	g.63971803A>C	CA400639166	SCN4A	c.530T>G (p.Leu177Arg)
17	g.63971803A>G	CA400639167	SCN4A	c.530T>C (p.Leu177Pro)	gnomAD v4
17	g.63971803A>T	CA400639164	SCN4A	c.530T>A (p.Leu177Gln)
17	g.63971804G>A	CA501227012	SCN4A	c.529C>T (p.Leu177=)	ClinVar
17	g.63971804G>C	CA400639169	SCN4A	c.529C>G (p.Leu177Val)
17	g.63971804G>T	CA400639171	SCN4A	c.529C>A (p.Leu177Met)
17	g.63971805T>A	CA501227014	SCN4A	c.528A>T (p.Ile176=)
17	g.63971805T>C	CA400639172	SCN4A	c.528A>G (p.Ile176Met)
17	g.63971805T>G	CA501227013	SCN4A	c.528A>C (p.Ile176=)
17	g.63971806A=	CA2270175535	SCN4A	c.527T= (p.Ile176=)
17	g.63971806A>C	CA400639174	SCN4A	c.527T>G (p.Ile176Arg)
17	g.63971806A>G	CA400639176	SCN4A	c.527T>C (p.Ile176Thr)	ClinVar dbSNP gnomAD v4
17	g.63971806A>T	CA400639178	SCN4A	c.527T>A (p.Ile176Lys)
17	g.63971807T>A	CA400639179	SCN4A	c.526A>T (p.Ile176Leu)
17	g.63971807T>C	CA400639180	SCN4A	c.526A>G (p.Ile176Val)
17	g.63971807T>G	CA400639181	SCN4A	c.526A>C (p.Ile176Leu)
17	g.63971808C>A	CA400639183	SCN4A	c.525G>T (p.Lys175Asn)	dbSNP gnomAD v2
17	g.63971808C=	CA2270175536	SCN4A	c.525G= (p.Lys175=)
17	g.63971808C>G	CA400639184	SCN4A	c.525G>C (p.Lys175Asn)
17	g.63971808C>T	CA501227016	SCN4A	c.525G>A (p.Lys175=)
17	g.63971809T>A	CA400639185	SCN4A	c.524A>T (p.Lys175Met)
17	g.63971809T>C	CA8710124	SCN4A	c.524A>G (p.Lys175Arg)	dbSNP ExAC gnomAD v2
17	g.63971809T>G	CA400639188	SCN4A	c.524A>C (p.Lys175Thr)
17	g.63971809T=	CA2270175537	SCN4A	c.524A= (p.Lys175=)
17	g.63971810T>A	CA400639190	SCN4A	c.523A>T (p.Lys175Ter)	dbSNP
17	g.63971810T>C	CA400639192	SCN4A	c.523A>G (p.Lys175Glu)
17	g.63971810T>G	CA400639191	SCN4A	c.523A>C (p.Lys175Gln)
17	g.63971810T=	CA2270175538	SCN4A	c.523A= (p.Lys175=)
17	g.63971811G>A	CA501227020	SCN4A	c.522C>T (p.Ile174=)	ClinVar
17	g.63971811G>C	CA400639194	SCN4A	c.522C>G (p.Ile174Met)
17	g.63971811G>T	CA501227021	SCN4A	c.522C>A (p.Ile174=)
17	g.63971812A>C	CA400639196	SCN4A	c.521T>G (p.Ile174Ser)
17	g.63971812A>G	CA400639198	SCN4A	c.521T>C (p.Ile174Thr)
17	g.63971812A>T	CA400639200	SCN4A	c.521T>A (p.Ile174Asn)
17	g.63971813T>A	CA400639202	SCN4A	c.520A>T (p.Ile174Phe)
17	g.63971813T>C	CA400639204	SCN4A	c.520A>G (p.Ile174Val)	ClinVar
17	g.63971813T>G	CA400639206	SCN4A	c.520A>C (p.Ile174Leu)
17	g.63971814G>A	CA501227022	SCN4A	c.519C>T (p.Leu173=)
17	g.63971814G>C	CA501227023	SCN4A	c.519C>G (p.Leu173=)
17	g.63971814G>T	CA501227024	SCN4A	c.519C>A (p.Leu173=)
17	g.63971815A>C	CA400639208	SCN4A	c.518T>G (p.Leu173Arg)
17	g.63971815A>G	CA400639209	SCN4A	c.518T>C (p.Leu173Pro)
17	g.63971815A>T	CA400639211	SCN4A	c.518T>A (p.Leu173His)
17	g.63971816G>A	CA400639215	SCN4A	c.517C>T (p.Leu173Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.63971816G>C	CA400639217	SCN4A	c.517C>G (p.Leu173Val)
17	g.63971816G=	CA2270175539	SCN4A	c.517C= (p.Leu173=)
17	g.63971816G>T	CA400639214	SCN4A	c.517C>A (p.Leu173Ile)
17	g.63971817G>A	CA501227025	SCN4A	c.516C>T (p.Ser172=)
17	g.63971817G>C	CA501227026	SCN4A	c.516C>G (p.Ser172=)
17	g.63971817G>T	CA501227027	SCN4A	c.516C>A (p.Ser172=)
17	g.63971818G>A	CA400639219	SCN4A	c.515C>T (p.Ser172Phe)
17	g.63971818G>C	CA400639220	SCN4A	c.515C>G (p.Ser172Cys)
17	g.63971818G>T	CA400639222	SCN4A	c.515C>A (p.Ser172Tyr)	gnomAD v4
17	g.63971819A=	CA2270175540	SCN4A	c.514T= (p.Ser172=)
17	g.63971819A>C	CA400639224	SCN4A	c.514T>G (p.Ser172Ala)	ClinVar dbSNP
17	g.63971819A>G	CA400639226	SCN4A	c.514T>C (p.Ser172Pro)
17	g.63971819A>T	CA400639227	SCN4A	c.514T>A (p.Ser172Thr)
17	g.63971820C>A	CA400639229	SCN4A	c.513G>T (p.Glu171Asp)
17	g.63971820C>G	CA400639231	SCN4A	c.513G>C (p.Glu171Asp)
17	g.63971820C>T	CA501227028	SCN4A	c.513G>A (p.Glu171=)	gnomAD v4
17	g.63971821T>A	CA400639233	SCN4A	c.512A>T (p.Glu171Val)
17	g.63971821T>C	CA400639234	SCN4A	c.512A>G (p.Glu171Gly)
17	g.63971821T>G	CA400639235	SCN4A	c.512A>C (p.Glu171Ala)
17	g.63971822C>A	CA400639238	SCN4A	c.511G>T (p.Glu171Ter)	dbSNP
17	g.63971822C=	CA2270175541	SCN4A	c.511G= (p.Glu171=)
17	g.63971822C>G	CA400639239	SCN4A	c.511G>C (p.Glu171Gln)
17	g.63971822C>T	CA400639241	SCN4A	c.511G>A (p.Glu171Lys)
17	g.63971823A=	CA2270175542	SCN4A	c.510T= (p.Phe170=)
17	g.63971823A>C	CA400639242	SCN4A	c.510T>G (p.Phe170Leu)
17	g.63971823A>G	CA501227029	SCN4A	c.510T>C (p.Phe170=)	dbSNP gnomAD v3 gnomAD v4
17	g.63971823A>T	CA400639244	SCN4A	c.510T>A (p.Phe170Leu)
17	g.63971824A=	CA2270175543	SCN4A	c.509T= (p.Phe170=)
17	g.63971824A>C	CA400639247	SCN4A	c.509T>G (p.Phe170Cys)
17	g.63971824A>G	CA400639248	SCN4A	c.509T>C (p.Phe170Ser)	dbSNP gnomAD v2 gnomAD v4
17	g.63971824A>T	CA400639250	SCN4A	c.509T>A (p.Phe170Tyr)
17	g.63971825A>C	CA400639252	SCN4A	c.508T>G (p.Phe170Val)	COSMIC
17	g.63971825A>G	CA400639254	SCN4A	c.508T>C (p.Phe170Leu)
17	g.63971825A>T	CA400639256	SCN4A	c.508T>A (p.Phe170Ile)
17	g.63971826G>A	CA8710125	SCN4A	c.507C>T (p.Thr169=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63971826G>C	CA501227031	SCN4A	c.507C>G (p.Thr169=)
17	g.63971826G=	CA2270175544	SCN4A	c.507C= (p.Thr169=)
17	g.63971826G>T	CA501227030	SCN4A	c.507C>A (p.Thr169=)
17	g.63971827G>A	CA400639259	SCN4A	c.506C>T (p.Thr169Ile)	gnomAD v4
17	g.63971827G>C	CA400639261	SCN4A	c.506C>G (p.Thr169Ser)
17	g.63971827G=	CA2270175545	SCN4A	c.506C= (p.Thr169=)
17	g.63971827G>T	CA400639263	SCN4A	c.506C>A (p.Thr169Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63971828T>A	CA400639265	SCN4A	c.505A>T (p.Thr169Ser)
17	g.63971828T>C	CA400639267	SCN4A	c.505A>G (p.Thr169Ala)	dbSNP gnomAD v4
17	g.63971828T>G	CA400639268	SCN4A	c.505A>C (p.Thr169Pro)
17	g.63971828T=	CA2270175546	SCN4A	c.505A= (p.Thr169=)
17	g.63971829G>A	CA501227032	SCN4A	c.504C>T (p.Tyr168=)
17	g.63971829G>C	CA400639272	SCN4A	c.504C>G (p.Tyr168Ter)
17	g.63971829G>T	CA400639270	SCN4A	c.504C>A (p.Tyr168Ter)
17	g.63971830T>A	CA400639274	SCN4A	c.503A>T (p.Tyr168Phe)	ClinVar gnomAD v4
17	g.63971830T>C	CA400639276	SCN4A	c.503A>G (p.Tyr168Cys)	gnomAD v4
17	g.63971830T>G	CA400639275	SCN4A	c.503A>C (p.Tyr168Ser)
17	g.63971831A>C	CA400639278	SCN4A	c.502T>G (p.Tyr168Asp)
17	g.63971831A>G	CA400639282	SCN4A	c.502T>C (p.Tyr168His)
17	g.63971831A>T	CA400639280	SCN4A	c.502T>A (p.Tyr168Asn)
17	g.63971832del	CA2576356211	SCN4A	c.501del (p.Tyr168ThrfsTer?)
17	g.63971832G>A	CA501227033	SCN4A	c.501C>T (p.Ile167=)
17	g.63971832G>C	CA400639284	SCN4A	c.501C>G (p.Ile167Met)
17	g.63971832G>T	CA501227034	SCN4A	c.501C>A (p.Ile167=)
17	g.63971833A>C	CA400639286	SCN4A	c.500T>G (p.Ile167Ser)
17	g.63971833A>G	CA400639288	SCN4A	c.500T>C (p.Ile167Thr)
17	g.63971833A>T	CA400639290	SCN4A	c.500T>A (p.Ile167Asn)
17	g.63971834T>A	CA8710126	SCN4A	c.499A>T (p.Ile167Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971834T>C	CA400639293	SCN4A	c.499A>G (p.Ile167Val)	gnomAD v4
17	g.63971834T>G	CA400639294	SCN4A	c.499A>C (p.Ile167Leu)
17	g.63971834T=	CA2270175547	SCN4A	c.499A= (p.Ile167=)
17	g.63971835C>A	CA501227035	SCN4A	c.498G>T (p.Gly166=)	gnomAD v4
17	g.63971835C=	CA2270175548	SCN4A	c.498G= (p.Gly166=)
17	g.63971835C>G	CA501227036	SCN4A	c.498G>C (p.Gly166=)
17	g.63971835C>T	CA501227037	SCN4A	c.498G>A (p.Gly166=)	ClinVar dbSNP gnomAD v4
17	g.63971835_63971836insTCGGTGGTCG	CA627150685	SCN4A	c.497_498insCGACCACCGA (p.Ile167AspfsTer8)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAATGG	CA2639310338	SCN4A	c.497_498insCCATTTTTTTAATGATACGGCGACCACCGA (p.Gly166_Ile167insHisPhePheAsnAspThrAlaThrThrGlu)	gnomAD v4
17	g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAGAG	CA2639310333	SCN4A	c.497_498insCTCTTTTTTTAATGATACGGCGACCACCGA (p.Gly166_Ile167insSerPhePheAsnAspThrAlaThrThrGlu)	gnomAD v4
17	g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAA	CA2810128079	SCN4A	c.497_498insTTTTTTTTTTAATGATACGGCGACCACCGA (p.Gly166_Ile167insPhePhePheAsnAspThrAlaThrThrGlu)
17	g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAGGAACGG	CA2639310335	SCN4A	c.497_498insCCGTTCCTTTTTTTAATGATACGGCGACCACCGA (p.Ile167ArgfsTer5)	gnomAD v4
17	g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG	CA2639310332	SCN4A	c.497_498insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA (p.Ile167PhefsTer5)	gnomAD v4
17	g.63971836C>A	CA400639296	SCN4A	c.497G>T (p.Gly166Val)	dbSNP gnomAD v4
17	g.63971836C=	CA2270175549	SCN4A	c.497G= (p.Gly166=)
17	g.63971836C>G	CA400639298	SCN4A	c.497G>C (p.Gly166Ala)
17	g.63971836C>T	CA400639300	SCN4A	c.497G>A (p.Gly166Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971837C>A	CA400639305	SCN4A	c.496G>T (p.Gly166Trp)
17	g.63971837C>G	CA400639303	SCN4A	c.496G>C (p.Gly166Arg)
17	g.63971837C>T	CA400639302	SCN4A	c.496G>A (p.Gly166Arg)	gnomAD v4
17	g.63971838T>A	CA501227038	SCN4A	c.495A>T (p.Thr165=)
17	g.63971838T>C	CA501227039	SCN4A	c.495A>G (p.Thr165=)
17	g.63971838T>G	CA501227040	SCN4A	c.495A>C (p.Thr165=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971838T=	CA2270175550	SCN4A	c.495A= (p.Thr165=)
17	g.63971838_63971843del	CA985437898	SCN4A	c.490_495del (p.Phe164_Thr165del)	gnomAD v3 gnomAD v4
17	g.63971839G>A	CA400639306	SCN4A	c.494C>T (p.Thr165Ile)	ClinVar dbSNP gnomAD v2 COSMIC
17	g.63971839G>C	CA400639307	SCN4A	c.494C>G (p.Thr165Arg)
17	g.63971839G=	CA2270175551	SCN4A	c.494C= (p.Thr165=)
17	g.63971839G>T	CA400639308	SCN4A	c.494C>A (p.Thr165Lys)
17	g.63971840T>A	CA400639309	SCN4A	c.493A>T (p.Thr165Ser)
17	g.63971840T>C	CA400639310	SCN4A	c.493A>G (p.Thr165Ala)
17	g.63971840T>G	CA400639311	SCN4A	c.493A>C (p.Thr165Pro)	dbSNP
17	g.63971840_63971843delinsTGAA	CA2270175552	SCN4A	c.490_493delinsTTCA (p.Phe164=)
17	g.63971841G>A	CA501227041	SCN4A	c.492C>T (p.Phe164=)
17	g.63971841G>C	CA400639312	SCN4A	c.492C>G (p.Phe164Leu)
17	g.63971841G=	CA2270175553	SCN4A	c.492C= (p.Phe164=)
17	g.63971841G>T	CA400639313	SCN4A	c.492C>A (p.Phe164Leu)
17	g.63971841_63971842insGTCGCCG	CA627150687	SCN4A	c.492_493insGGCGACC (p.Thr165GlyfsTer9)	gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAG	CA2639310355	SCN4A	c.492_493insTTTTTTTAATGATACGGCGACC (p.Thr165PhefsTer3)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAGAG	CA2810128081	SCN4A	c.492_493insTCTTTTTTTAATGATACGGCGACC (p.Phe164_Thr165insSerPhePheAsnAspThrAlaThr)
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAACCG	CA2810128080	SCN4A	c.492_493insGGTTTTTTTTTTAATGATACGGCGACC (p.Phe164_Thr165insGlyPhePhePheAsnAspThrAlaThr)
17	g.63971841dup	CA985437901	SCN4A	c.492dup (p.Thr165HisfsTer7)	gnomAD v3 gnomAD v4
17	g.63971842_63971844del	CA627150686	SCN4A	c.490_492del (p.Phe164del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGT	CA2639310399	SCN4A	c.491_492insACGGCGAC (p.Phe164LeufsTer?)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATC	CA985437912	SCN4A	c.491_492insGATACGGCGAC (p.Phe164LeufsTer?)	gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATT	CA985437936	SCN4A	c.491_492insAATGATACGGCGAC (p.Phe164LeufsTer?)	gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTA	CA985437933	SCN4A	c.491_492insTAATGATACGGCGAC (p.Phe164_Thr165insAsnAspThrAlaThr)	gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAA	CA985437920	SCN4A	c.491_492insTTAATGATACGGCGAC (p.Thr165Ter)	gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATGAAA	CA2639310403	SCN4A	c.491_492insTTTCATGATACGGCGAC (p.Thr165PhefsTer?)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAA	CA627150688	SCN4A	c.491_492insTTTAATGATACGGCGAC (p.Thr165LeufsTer?)	gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAA	CA627150689	SCN4A	c.491_492insTTTTAATGATACGGCGAC (p.Phe164_Thr165insPheAsnAspThrAlaThr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGAATCATTAAAA	CA2639310397	SCN4A	c.491_492insTTTTAATGATTCGGCGAC (p.Phe164_Thr165insPheAsnAspSerAlaThr)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAA	CA627150690	SCN4A	c.491_492insTTTTTAATGATACGGCGAC (p.Thr165PhefsTer2)	gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAA	CA985437917	SCN4A	c.491_492insTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer?)	gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAGAAA	CA2596764901	SCN4A	c.491_492insTTTCTTTAATGATACGGCGAC (p.Phe164_Thr165insPhePheAsnAspThrAlaThr)	gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAA	CA2639310391	SCN4A	c.491_492insTTTTTTTAATGATACGGCGAC (p.Phe164_Thr165insPhePheAsnAspThrAlaThr)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAA	CA627150691	SCN4A	c.491_492insTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer3)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAA	CA627150693	SCN4A	c.491_492insTTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAA	CA2639310389	SCN4A	c.491_492insTTTTTTTTTTAATGATACGGCGAC (p.Phe164_Thr165insPhePhePheAsnAspThrAlaThr)	gnomAD v4
17	g.63971841_63971842insGTCGCCTTATCATTAAAAAAAAAA	CA2639310385	SCN4A	c.491_492insTTTTTTTTTTAATGATAAGGCGAC (p.Phe164_Thr165insPhePhePheAsnAspLysAlaThr)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAAA	CA2639310387	SCN4A	c.491_492insTTTTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer4)	gnomAD v4
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAAAA	CA2810128083	SCN4A	c.491_492insTTTTTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer?)
17	g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAAACGA	CA2810128082	SCN4A	c.491_492insTCGTTTTTTTTTTTAATGATACGGCGAC (p.Thr165ArgfsTer5)
17	g.63971842A>C	CA400639314	SCN4A	c.491T>G (p.Phe164Cys)
17	g.63971842A>G	CA400639315	SCN4A	c.491T>C (p.Phe164Ser)	gnomAD v3 gnomAD v4
17	g.63971842A>T	CA400639316	SCN4A	c.491T>A (p.Phe164Tyr)
17	g.63971842_63971843del	CA627150692	SCN4A	c.490_491del (p.Phe164HisfsTer7)	gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971842_63971846del	CA2639310383	SCN4A	c.487_491del (p.Thr163HisfsTer7)	gnomAD v4
17	g.63971842_63971843insTCATTAAAAAG	CA2639310421	SCN4A	c.490_491insCTTTTTAATGA (p.Phe164SerfsTer3)	gnomAD v4
17	g.63971842_63971843insTCATTAAAAAAAGAGG	CA2810128085	SCN4A	c.490_491insCCTCTTTTTTTAATGA (p.Phe164SerfsTer13)
17	g.63971842_63971843insTCATTAAAAAAAGGGC	CA2639310418	SCN4A	c.490_491insGCCCTTTTTTTAATGA (p.Phe164CysfsTer13)	gnomAD v4
17	g.63971842_63971843insTCATTAAAAAAAAAAAC	CA2810128084	SCN4A	c.490_491insGTTTTTTTTTTTAATGA (p.Phe164CysfsTer5)
17	g.63971843A>C	CA400639318	SCN4A	c.490T>G (p.Phe164Val)	gnomAD v3 gnomAD v4
17	g.63971843A>G	CA400639319	SCN4A	c.490T>C (p.Phe164Leu)
17	g.63971843A>T	CA400639317	SCN4A	c.490T>A (p.Phe164Ile)	gnomAD v4
17	g.63971843_63971845del	CA2639310422	SCN4A	c.488_490del (p.Thr163_Phe164delinsIle)	gnomAD v4
17	g.63971843_63971844insAAAAG	CA2639310446	SCN4A	c.489_490insCTTTT (p.Phe164LeufsTer?)	gnomAD v4
17	g.63971843_63971844insAAAAAG	CA2639310470	SCN4A	c.489_490insCTTTTT (p.Thr163_Phe164insLeuPhe)	gnomAD v4
17	g.63971843_63971844insAAAAAT	CA2810128090	SCN4A	c.489_490insATTTTT (p.Thr163_Phe164insIlePhe)
17	g.63971843_63971844insAAAGAG	CA985437946	SCN4A	c.489_490insCTCTTT (p.Thr163_Phe164insLeuPhe)	gnomAD v3 gnomAD v4
17	g.63971843_63971844insAAAAAAAAAC	CA2810128088	SCN4A	c.489_490insGTTTTTTTTT (p.Phe164ValfsTer11)
17	g.63971843_63971844insAAAAAGGGAC	CA2639310458	SCN4A	c.489_490insGTCCCTTTTT (p.Phe164ValfsTer11)	gnomAD v4
17	g.63971843_63971844insAAAAATGGAC	CA2810128086	SCN4A	c.489_490insGTCCATTTTT (p.Phe164ValfsTer11)
17	g.63971843_63971844insAAAAAAAAAAAGAC	CA2810128089	SCN4A	c.489_490insGTCTTTTTTTTTTT (p.Phe164ValfsTer?)
17	g.63971843_63971844insAAAAAAAAACGGAC	CA2810128087	SCN4A	c.489_490insGTCCGTTTTTTTTT (p.Phe164ValfsTer?)
17	g.63971844G>A	CA501227042	SCN4A	c.489C>T (p.Thr163=)	gnomAD v4
17	g.63971844G>C	CA8710127	SCN4A	c.489C>G (p.Thr163=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971844G=	CA2270175554	SCN4A	c.489C= (p.Thr163=)
17	g.63971844G>T	CA501227043	SCN4A	c.489C>A (p.Thr163=)
17	g.63971844_63971845insTC	CA627150694	SCN4A	c.488_489insGA (p.Phe164ThrfsTer?)	gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971845G>A	CA400639321	SCN4A	c.488C>T (p.Thr163Ile)
17	g.63971845G>C	CA400639322	SCN4A	c.488C>G (p.Thr163Ser)	gnomAD v3 gnomAD v4
17	g.63971845G>T	CA400639324	SCN4A	c.488C>A (p.Thr163Asn)
17	g.63971846T>A	CA400639329	SCN4A	c.487A>T (p.Thr163Ser)
17	g.63971846T>C	CA400639327	SCN4A	c.487A>G (p.Thr163Ala)	gnomAD v3 gnomAD v4
17	g.63971846T>G	CA400639326	SCN4A	c.487A>C (p.Thr163Pro)
17	g.63971846T=	CA2270175556	SCN4A	c.487A= (p.Thr163=)
17	g.63971846_63971848del	CA2810128091	SCN4A	c.485_487del (p.Tyr162_Thr163delinsSer)
17	g.63971846_63971849del	CA2639310475	SCN4A	c.484_487del (p.Tyr162ProfsTer?)	gnomAD v4
17	g.63971846_63971849delinsTGTA	CA2270175555	SCN4A	c.484_487delinsTACA (p.Tyr162=)
17	g.63971846_63971847insC	CA985437976	SCN4A	c.486_487insG (p.Thr163AspfsTer9)	gnomAD v3 gnomAD v4
17	g.63971846_63971847insCGCA	CA2639310488	SCN4A	c.486_487insTGCG (p.Thr163CysfsTer10)	gnomAD v4
17	g.63971846_63971847insCGCC	CA627150695	SCN4A	c.486_487insGGCG (p.Thr163GlyfsTer10)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971846_63971847insCGTC	CA2639310484	SCN4A	c.486_487insGACG (p.Thr163AspfsTer10)	gnomAD v4
17	g.63971846_63971847insCGTG	CA2639310482	SCN4A	c.486_487insCACG (p.Thr163HisfsTer10)	gnomAD v4
17	g.63971847G>A	CA8710128	SCN4A	c.486C>T (p.Tyr162=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971847G>C	CA400639331	SCN4A	c.486C>G (p.Tyr162Ter)
17	g.63971847G=	CA2270175557	SCN4A	c.486C= (p.Tyr162=)
17	g.63971847G>T	CA400639333	SCN4A	c.486C>A (p.Tyr162Ter)
17	g.63971847_63971848insGCCG	CA985437970	SCN4A	c.486_487insGGCC (p.Thr163GlyfsTer10)	gnomAD v3 gnomAD v4
17	g.63971847_63971849del	CA627150696	SCN4A	c.484_486del (p.Tyr162del)	dbSNP gnomAD v2 gnomAD v4
17	g.63971848del	CA985437981	SCN4A	c.485del (p.Tyr162SerfsTer?)	gnomAD v3 gnomAD v4
17	g.63971848T>A	CA400639334	SCN4A	c.485A>T (p.Tyr162Phe)	gnomAD v3 gnomAD v4
17	g.63971848T>C	CA400639336	SCN4A	c.485A>G (p.Tyr162Cys)
17	g.63971848T>G	CA400639337	SCN4A	c.485A>C (p.Tyr162Ser)	gnomAD v3 gnomAD v4
17	g.63971848_63971849del	CA985437988	SCN4A	c.484_485del (p.Tyr162HisfsTer9)	gnomAD v3 gnomAD v4
17	g.63971848_63971852del	CA2639310496	SCN4A	c.483-2_485del	gnomAD v4
17	g.63971848_63971882del	CA2639310497	SCN4A	c.483-32_485del	gnomAD v4
17	g.63971848_63971849insCGA	CA985437991	SCN4A	c.484_485insTCG (p.Tyr162delinsPheAsp)	gnomAD v3 gnomAD v4
17	g.63971848_63971849insCTCATTAAA	CA985437992	SCN4A	c.484_485insTTTAATGAG (p.Tyr162PhefsTer2)	gnomAD v3 gnomAD v4
17	g.63971849del	CA2639310511	SCN4A	c.484del (p.Tyr162ThrfsTer?)	gnomAD v4
17	g.63971849A=	CA2270175558	SCN4A	c.484T= (p.Tyr162=)
17	g.63971849A>C	CA400639339	SCN4A	c.484T>G (p.Tyr162Asp)
17	g.63971849A>G	CA400639343	SCN4A	c.484T>C (p.Tyr162His)	gnomAD v3 gnomAD v4
17	g.63971849A>T	CA400639341	SCN4A	c.484T>A (p.Tyr162Asn)
17	g.63971849_63971850insTCATTAAAAAAA	CA2810128092	SCN4A	c.484_485insTTTTTTAATGAT (p.Tyr162PhefsTer3)
17	g.63971849_63971857del	CA2639310509	SCN4A	c.483-7_484del	gnomAD v4
17	g.63971849_63971850insT	CA985438001	SCN4A	c.483_484insA (p.Tyr162IlefsTer10)	gnomAD v3 gnomAD v4
17	g.63971850C>A	CA400639345	SCN4A	c.483G>T (p.Glu161Asp)
17	g.63971850C=	CA2270175559	SCN4A	c.483G= (p.Glu161=)
17	g.63971850C>G	CA400639347	SCN4A	c.483G>C (p.Glu161Asp)	gnomAD v4
17	g.63971850C>T	CA501227044	SCN4A	c.483G>A (p.Glu161=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971850_63971851del	CA985437999	SCN4A	c.483-1_483del	gnomAD v4
17	g.63971851dup	CA627150697	SCN4A	c.483dup	dbSNP gnomAD v2 gnomAD v4
17	g.63971850_63971858del	CA985438002	SCN4A	c.483-8_483del	gnomAD v3 gnomAD v4
17	g.63971850_63971859del	CA985438000	SCN4A	c.483-9_483del	gnomAD v3 gnomAD v4
17	g.63971851C>A	CA400639349	SCN4A	c.483-1G>T (n.483-1G>T)	gnomAD v3 gnomAD v4
17	g.63971851C=	CA2270175561	SCN4A	c.483-1G= (n.483-1G=)
17	g.63971851C>G	CA400639351	SCN4A	c.483-1G>C (n.483-1G>C)
17	g.63971851C>T	CA400639353	SCN4A	c.483-1G>A (n.483-1G>A)
17	g.63971851_63971855del	CA2810128093	SCN4A	c.483-5_483-1del (n.483-5_483-1del)
17	g.63971851_63971858del	CA985438003	SCN4A	c.483-8_483-1del (n.483-8_483-1del)	gnomAD v3 gnomAD v4
17	g.63971851_63971859del	CA2810128094	SCN4A	c.483-9_483-1del (n.483-9_483-1del)
17	g.63971851_63971859delinsCTGGGGGGG	CA2270175560	SCN4A	c.483-9_483-1delinsCCCCCCCAG (n.483-9_483-1delinsCCCCCCCAG)
17	g.63971851_63971864del	CA627150698	SCN4A	c.483-14_483-1del (n.483-14_483-1del)	gnomAD v2 gnomAD v4
17	g.63971851_63971852insAT	CA985438012	SCN4A	c.483-2_483-1insAT (n.483-2_483-1insAT)	gnomAD v3 gnomAD v4
17	g.63971851_63971852insACACCACCA	CA2639310547	SCN4A	c.483-2_483-1insTGGTGGTGT (n.483-2_483-1insTGGTGGTGT)	gnomAD v4
17	g.63971851_63971852insATTAAAAAAA	CA985438006	SCN4A	c.483-2_483-1insTTTTTTTAAT (n.483-2_483-1insTTTTTTTAAT)	gnomAD v3 gnomAD v4
17	g.63971851_63971852insATTAAAAAAAG	CA2639310544	SCN4A	c.483-2_483-1insCTTTTTTTAAT (n.483-2_483-1insCTTTTTTTAAT)	gnomAD v4
17	g.63971851_63971852insATTAAAAAAAAA	CA2639310546	SCN4A	c.483-2_483-1insTTTTTTTTTAAT (n.483-2_483-1insTTTTTTTTTAAT)	gnomAD v4
17	g.63971852T>A	CA400639355	SCN4A	c.483-2A>T (n.483-2A>T)
17	g.63971852T>C	CA400639357	SCN4A	c.483-2A>G (n.483-2A>G)
17	g.63971852T>G	CA400639359	SCN4A	c.483-2A>C (n.483-2A>C)
17	g.63971852dup	CA2270175562	SCN4A	c.483-2dup (n.483-2dup)	ClinVar dbSNP
17	g.63971852_63971853delinsTG	CA2270175563	SCN4A	c.483-3_483-2delinsCA (n.483-3_483-2delinsCA)
17	g.63971852_63971855del	CA2639310537	SCN4A	c.483-5_483-2del (n.483-5_483-2del)	gnomAD v4
17	g.63971852_63971857del	CA985438007	SCN4A	c.483-7_483-2del (n.483-7_483-2del)	gnomAD v3 gnomAD v4
17	g.63971852_63971858del	CA985438008	SCN4A	c.483-8_483-2del (n.483-8_483-2del)	gnomAD v3 gnomAD v4
17	g.63971852_63971859del	CA627150699	SCN4A	c.483-9_483-2del (n.483-9_483-2del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971852_63971853insTAAAAAAA	CA985438024	SCN4A	c.483-3_483-2insTTTTTTTA (n.483-3_483-2insTTTTTTTA)	gnomAD v3 gnomAD v4
17	g.63971853G>A	CA8710132	SCN4A	c.483-3C>T (n.483-3C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971853G>C	CA292972707	SCN4A	c.483-3C>G (n.483-3C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971853G=	CA2270175564	SCN4A	c.483-3C= (n.483-3C=)
17	g.63971853G>T	CA8710131	SCN4A	c.483-3C>A (n.483-3C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971853_63971859del	CA985438033	SCN4A	c.483-9_483-3del (n.483-9_483-3del)	gnomAD v3 gnomAD v4
17	g.63971859dup	CA8710129	SCN4A	c.483-3dup (n.483-3dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63971859del	CA8710130	SCN4A	c.483-3del (n.483-3del)	ClinVar dbSNP ExAC gnomAD v4
17	g.63971855_63971859del	CA985438028	SCN4A	c.483-7_483-3del (n.483-7_483-3del)	gnomAD v3 gnomAD v4
17	g.63971854_63971859del	CA985438031	SCN4A	c.483-8_483-3del (n.483-8_483-3del)	gnomAD v3 gnomAD v4
17	g.63971853_63971865del	CA985438044	SCN4A	c.483-15_483-3del (n.483-15_483-3del)	gnomAD v4
17	g.63971855_63971865del	CA985438039	SCN4A	c.483-13_483-3del (n.483-13_483-3del)	gnomAD v3 gnomAD v4
17	g.63971853_63971854insCCA	CA2639310595	SCN4A	c.483-4_483-3insTGG (n.483-4_483-3insTGG)	gnomAD v4
17	g.63971853_63971854insTGTGTGCAAGTGT	CA2810128095	SCN4A	c.483-4_483-3insACACTTGCACACA (n.483-4_483-3insACACTTGCACACA)
17	g.63971854G>A	CA8710135	SCN4A	c.483-4C>T (n.483-4C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971854G>C	CA8710133	SCN4A	c.483-4C>G (n.483-4C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971854G=	CA2270175565	SCN4A	c.483-4C= (n.483-4C=)
17	g.63971854G>T	CA8710134	SCN4A	c.483-4C>A (n.483-4C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971855G>A	CA8710137	SCN4A	c.483-5C>T (n.483-5C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971855G>C	CA245098	SCN4A	c.483-5C>G (n.483-5C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971855G=	CA2270175566	SCN4A	c.483-5C= (n.483-5C=)
17	g.63971855G>T	CA8710136	SCN4A	c.483-5C>A (n.483-5C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971855_63971856insCTAATTTTT	CA2639310608	SCN4A	c.483-6_483-5insAAAAATTAG (n.483-6_483-5insAAAAATTAG)	gnomAD v4
17	g.63971856G>A	CA627150700	SCN4A	c.483-6C>T (n.483-6C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971856G>C	CA8710139	SCN4A	c.483-6C>G (n.483-6C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971856G=	CA2270175567	SCN4A	c.483-6C= (n.483-6C=)
17	g.63971856G>T	CA8710138	SCN4A	c.483-6C>A (n.483-6C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971857G>A	CA8710140	SCN4A	c.483-7C>T (n.483-7C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971857G>C	CA2639310619	SCN4A	c.483-7C>G (n.483-7C>G)	gnomAD v4
17	g.63971857G=	CA2270175568	SCN4A	c.483-7C= (n.483-7C=)
17	g.63971857G>T	CA2639310625	SCN4A	c.483-7C>A (n.483-7C>A)	gnomAD v4
17	g.63971857_63971866del	CA985438082	SCN4A	c.483-16_483-7del (n.483-16_483-7del)	gnomAD v3 gnomAD v4
17	g.63971858G>A	CA8710141	SCN4A	c.483-8C>T (n.483-8C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971858G>C	CA2810128096	SCN4A	c.483-8C>G (n.483-8C>G)
17	g.63971858G=	CA2270175569	SCN4A	c.483-8C= (n.483-8C=)
17	g.63971858G>T	CA2596764902	SCN4A	c.483-8C>A (n.483-8C>A)	dbSNP gnomAD v3 gnomAD v4
17	g.63971858_63971859insATTAAA	CA985438094	SCN4A	c.483-9_483-8insTTTAAT (n.483-9_483-8insTTTAAT)	gnomAD v3 gnomAD v4
17	g.63971859G>A	CA8710142	SCN4A	c.483-9C>T (n.483-9C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971859G=	CA2270175570	SCN4A	c.483-9C= (n.483-9C=)
17	g.63971859G>T	CA8710143	SCN4A	c.483-9C>A (n.483-9C>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971859_63971860insTATCATTAAAA	CA985438104	SCN4A	c.483-10_483-9insTTTTAATGATA (n.483-10_483-9insTTTTAATGATA)	gnomAD v3 gnomAD v4
17	g.63971859_63971860insCCGAATCATTAAAA	CA2810128097	SCN4A	c.483-10_483-9insTTTTAATGATTCGG (n.483-10_483-9insTTTTAATGATTCGG)
17	g.63971859_63971860insCCGTATCATTAAAA	CA985438103	SCN4A	c.483-10_483-9insTTTTAATGATACGG (n.483-10_483-9insTTTTAATGATACGG)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insAA	CA985438116	SCN4A	c.483-10_483-9insTT (n.483-10_483-9insTT)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insAAA	CA985438106	SCN4A	c.483-10_483-9insTTT (n.483-10_483-9insTTT)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insAAAA	CA985438110	SCN4A	c.483-10_483-9insTTTT (n.483-10_483-9insTTTT)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insAAAAAA	CA2810128099	SCN4A	c.483-10_483-9insTTTTTT (n.483-10_483-9insTTTTTT)
17	g.63971860_63971861insTTAAAAA	CA627150702	SCN4A	c.483-10_483-9insTTTTAAT (n.483-10_483-9insTTTTAAT)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971860_63971861insTTAAAAAAA	CA985438118	SCN4A	c.483-10_483-9insTTTTTTAAT (n.483-10_483-9insTTTTTTAAT)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insTTAAAAAAAA	CA985438102	SCN4A	c.483-10_483-9insTTTTTTTAAT (n.483-10_483-9insTTTTTTTAAT)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insATCATTAAAAA	CA985438109	SCN4A	c.483-10_483-9insTTTTAATGATT (n.483-10_483-9insTTTTAATGATT)	gnomAD v3 gnomAD v4
17	g.63971860_63971861insATCATTAAAAAAA	CA2639310658	SCN4A	c.483-10_483-9insTTTTTTAATGATT (n.483-10_483-9insTTTTTTAATGATT)	gnomAD v4
17	g.63971860_63971861insATCATTAAAAAAAA	CA2810128098	SCN4A	c.483-10_483-9insTTTTTTTAATGATT (n.483-10_483-9insTTTTTTTAATGATT)
17	g.63971860_63971861insATCAT	CA2537985439	SCN4A	c.483-11_483-10insATGAT (n.483-11_483-10insATGAT)	gnomAD v4
17	g.63971861G>A	CA627150703	SCN4A	c.483-11C>T (n.483-11C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971861G=	CA2270175571	SCN4A	c.483-11C= (n.483-11C=)
17	g.63971861G>T	CA2639310703	SCN4A	c.483-11C>A (n.483-11C>A)	gnomAD v4
17	g.63971861_63971862insGAAAAAA	CA2639310712	SCN4A	c.483-12_483-11insTTTTTTC (n.483-12_483-11insTTTTTTC)	gnomAD v4
17	g.63971861_63971862insTAAAAAA	CA985438126	SCN4A	c.483-12_483-11insTTTTTTA (n.483-12_483-11insTTTTTTA)	gnomAD v3 gnomAD v4
17	g.63971861_63971862insTAAGAAA	CA985438127	SCN4A	c.483-12_483-11insTTTCTTA (n.483-12_483-11insTTTCTTA)	gnomAD v3 gnomAD v4
17	g.63971862A>G	CA2576356212	SCN4A	c.483-12T>C (n.483-12T>C)
17	g.63971862_63971863insAAA	CA985438123	SCN4A	c.483-12_483-11insTTT (n.483-12_483-11insTTT)	gnomAD v3 gnomAD v4
17	g.63971862_63971863insAAAA	CA985438124	SCN4A	c.483-12_483-11insTTTT (n.483-12_483-11insTTTT)	gnomAD v3 gnomAD v4
17	g.63971862_63971863insAAAAAA	CA985438125	SCN4A	c.483-12_483-11insTTTTTT (n.483-12_483-11insTTTTTT)	gnomAD v3 gnomAD v4
17	g.63971862_63971863insAAAG	CA2810128100	SCN4A	c.483-13_483-12insCTTT (n.483-13_483-12insCTTT)
17	g.63971863G>A	CA985438129	SCN4A	c.483-13C>T (n.483-13C>T)	gnomAD v3 gnomAD v4
17	g.63971863G>C	CA2639310720	SCN4A	c.483-13C>G (n.483-13C>G)	gnomAD v4
17	g.63971863_63971865del	CA985438131	SCN4A	c.483-15_483-13del (n.483-15_483-13del)	gnomAD v3 gnomAD v4
17	g.63971864_63971865del	CA985438133	SCN4A	c.483-14_483-13del (n.483-14_483-13del)	gnomAD v3 gnomAD v4

Number of alleles fetched