Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
17	g.63971864G>C	CA985438135	SCN4A	c.483-14C>G (n.483-14C>G)	gnomAD v3 gnomAD v4
17	g.63971864G>T	CA985438140	SCN4A	c.483-14C>A (n.483-14C>A)	gnomAD v3 gnomAD v4
17	g.63971865G>A	CA2639310728	SCN4A	c.483-15C>T (n.483-15C>T)	gnomAD v4
17	g.63971865G>T	CA2639310729	SCN4A	c.483-15C>A (n.483-15C>A)	gnomAD v4
17	g.63971866C>A	CA985438146	SCN4A	c.483-16G>T (n.483-16G>T)	gnomAD v3 gnomAD v4
17	g.63971866C=	CA2270175572	SCN4A	c.483-16G= (n.483-16G=)
17	g.63971866C>T	CA2270175573	SCN4A	c.483-16G>A (n.483-16G>A)	ClinVar dbSNP gnomAD v4
17	g.63971866_63971867insATTAAAAAAAAAAA	CA985438147	SCN4A	c.483-17_483-16insTTTTTTTTTTTAAT (n.483-17_483-16insTTTTTTTTTTTAAT)	gnomAD v4
17	g.63971867C>A	CA985438148	SCN4A	c.483-17G>T (n.483-17G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63971867C=	CA2270175574	SCN4A	c.483-17G= (n.483-17G=)
17	g.63971867C>T	CA501227045	SCN4A	c.483-17G>A (n.483-17G>A)	dbSNP gnomAD v3 gnomAD v4
17	g.63971868G>A	CA8710144	SCN4A	c.483-18C>T (n.483-18C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971868G>C	CA2639310749	SCN4A	c.483-18C>G (n.483-18C>G)	gnomAD v4
17	g.63971868G=	CA2270175575	SCN4A	c.483-18C= (n.483-18C=)
17	g.63971868G>T	CA2639310757	SCN4A	c.483-18C>A (n.483-18C>A)	gnomAD v4
17	g.63971868_63971869insTATCATTAAAAAAAAAAAAG	CA627150704	SCN4A	c.483-18_483-17insTTTTTTTTTTTTAATGATAC (n.483-18_483-17insTTTTTTTTTTTTAATGATAC)	dbSNP gnomAD v2 gnomAD v4
17	g.63971868_63971869insTATCATTAAAAAAAAAAAAA	CA2639310766	SCN4A	c.483-19_483-18insTTTTTTTTTTTTTAATGATA (n.483-19_483-18insTTTTTTTTTTTTTAATGATA)	gnomAD v4
17	g.63971868_63971869insTATCATTAAAAAAAAAACAA	CA2810128101	SCN4A	c.483-19_483-18insTTGTTTTTTTTTTAATGATA (n.483-19_483-18insTTGTTTTTTTTTTAATGATA)
17	g.63971868_63971869insTATCATTAAAAAAAAAAACA	CA2810128102	SCN4A	c.483-19_483-18insTGTTTTTTTTTTTAATGATA (n.483-19_483-18insTGTTTTTTTTTTTAATGATA)
17	g.63971869G>A	CA2270175576	SCN4A	c.483-19C>T (n.483-19C>T)	dbSNP gnomAD v4
17	g.63971869G=	CA2270175577	SCN4A	c.483-19C= (n.483-19C=)
17	g.63971869G>T	CA985438149	SCN4A	c.483-19C>A (n.483-19C>A)	gnomAD v3 gnomAD v4
17	g.63971870C>A	CA8710146	SCN4A	c.483-20G>T (n.483-20G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971870C=	CA2270175578	SCN4A	c.483-20G= (n.483-20G=)
17	g.63971870C>G	CA985438151	SCN4A	c.483-20G>C (n.483-20G>C)	gnomAD v3 gnomAD v4
17	g.63971870C>T	CA8710145	SCN4A	c.483-20G>A (n.483-20G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971871C>A	CA2639310779	SCN4A	c.483-21G>T (n.483-21G>T)	gnomAD v4
17	g.63971871C=	CA2270175579	SCN4A	c.483-21G= (n.483-21G=)
17	g.63971871C>G	CA985438154	SCN4A	c.483-21G>C (n.483-21G>C)	gnomAD v3 gnomAD v4
17	g.63971871C>T	CA8710147	SCN4A	c.483-21G>A (n.483-21G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971872G>A	CA8710148	SCN4A	c.483-22C>T (n.483-22C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971872G>C	CA985438155	SCN4A	c.483-22C>G (n.483-22C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.63971872G=	CA2270175580	SCN4A	c.483-22C= (n.483-22C=)
17	g.63971872G>T	CA2639310787	SCN4A	c.483-22C>A (n.483-22C>A)	gnomAD v4
17	g.63971874dup	CA2639310794	SCN4A	c.483-22dup (n.483-22dup)	gnomAD v4
17	g.63971875_63971892del	CA2639310786	SCN4A	c.483-39_483-22del (n.483-39_483-22del)	gnomAD v4
17	g.63971873G>A	CA8710149	SCN4A	c.483-23C>T (n.483-23C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971873G=	CA2270175581	SCN4A	c.483-23C= (n.483-23C=)
17	g.63971873G>T	CA2639310799	SCN4A	c.483-23C>A (n.483-23C>A)	gnomAD v4
17	g.63971874G>A	CA985438157	SCN4A	c.483-24C>T (n.483-24C>T)	gnomAD v3 gnomAD v4
17	g.63971874G>T	CA2639310825	SCN4A	c.483-24C>A (n.483-24C>A)	gnomAD v4
17	g.63971875del	CA2639310843	SCN4A	c.483-25del (n.483-25del)	gnomAD v4
17	g.63971875A=	CA2270175582	SCN4A	c.483-25T= (n.483-25T=)
17	g.63971875A>C	CA2270175583	SCN4A	c.483-25T>G (n.483-25T>G)	dbSNP gnomAD v4
17	g.63971875A>G	CA8710150	SCN4A	c.483-25T>C (n.483-25T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971875A>T	CA985438161	SCN4A	c.483-25T>A (n.483-25T>A)	dbSNP gnomAD v3 gnomAD v4
17	g.63971876C>A	CA985438163	SCN4A	c.483-26G>T (n.483-26G>T)	gnomAD v3 gnomAD v4
17	g.63971876C=	CA2270175584	SCN4A	c.483-26G= (n.483-26G=)
17	g.63971876C>G	CA2639310851	SCN4A	c.483-26G>C (n.483-26G>C)	gnomAD v4
17	g.63971876C>T	CA2270175585	SCN4A	c.483-26G>A (n.483-26G>A)	dbSNP gnomAD v4
17	g.63971877A>C	CA985438166	SCN4A	c.483-27T>G (n.483-27T>G)	gnomAD v3 gnomAD v4
17	g.63971877A>G	CA2639310859	SCN4A	c.483-27T>C (n.483-27T>C)	gnomAD v4
17	g.63971877A>T	CA2639310886	SCN4A	c.483-27T>A (n.483-27T>A)	gnomAD v4
17	g.63971878G>A	CA2270175587	SCN4A	c.483-28C>T (n.483-28C>T)	dbSNP gnomAD v4
17	g.63971878G=	CA2270175586	SCN4A	c.483-28C= (n.483-28C=)
17	g.63971879G>A	CA2639310893	SCN4A	c.483-29C>T (n.483-29C>T)	gnomAD v4
17	g.63971879G=	CA2270175588	SCN4A	c.483-29C= (n.483-29C=)
17	g.63971879G>T	CA2270175589	SCN4A	c.483-29C>A (n.483-29C>A)	dbSNP gnomAD v4
17	g.63971880C>A	CA627150715	SCN4A	c.483-30G>T (n.483-30G>T)	dbSNP gnomAD v2 gnomAD v4
17	g.63971880C=	CA2270175590	SCN4A	c.483-30G= (n.483-30G=)
17	g.63971880C>G	CA985438169	SCN4A	c.483-30G>C (n.483-30G>C)	gnomAD v3 gnomAD v4
17	g.63971880C>T	CA2639310900	SCN4A	c.483-30G>A (n.483-30G>A)	gnomAD v4
17	g.63971881A=	CA2270175591	SCN4A	c.483-31T= (n.483-31T=)
17	g.63971881A>C	CA2639310907	SCN4A	c.483-31T>G (n.483-31T>G)	gnomAD v4
17	g.63971881A>G	CA8710151	SCN4A	c.483-31T>C (n.483-31T>C)	dbSNP ExAC gnomAD v2
17	g.63971882T>C	CA2810128103	SCN4A	c.483-32A>G (n.483-32A>G)
17	g.63971882T>G	CA985438171	SCN4A	c.483-32A>C (n.483-32A>C)	gnomAD v3 gnomAD v4
17	g.63971883G>T	CA2639310911	SCN4A	c.483-33C>A (n.483-33C>A)	gnomAD v4
17	g.63971884T>G	CA985438172	SCN4A	c.483-34A>C (n.483-34A>C)	gnomAD v3 gnomAD v4
17	g.63971885C>A	CA2639310914	SCN4A	c.483-35G>T (n.483-35G>T)	gnomAD v4
17	g.63971885C>G	CA2639310915	SCN4A	c.483-35G>C (n.483-35G>C)	gnomAD v4
17	g.63971885C>T	CA985438174	SCN4A	c.483-35G>A (n.483-35G>A)	gnomAD v3 gnomAD v4
17	g.63971886A>C	CA985438178	SCN4A	c.483-36T>G (n.483-36T>G)	gnomAD v3 gnomAD v4
17	g.63971886A>G	CA2639310917	SCN4A	c.483-36T>C (n.483-36T>C)	gnomAD v4
17	g.63971887C=	CA2270175592	SCN4A	c.483-37G= (n.483-37G=)
17	g.63971887C>G	CA985438182	SCN4A	c.483-37G>C (n.483-37G>C)	dbSNP gnomAD v3 gnomAD v4
17	g.63971887C>T	CA8710152	SCN4A	c.483-37G>A (n.483-37G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63971888C>A	CA2639310923	SCN4A	c.483-38G>T (n.483-38G>T)	gnomAD v4
17	g.63971888C>T	CA2639310925	SCN4A	c.483-38G>A (n.483-38G>A)	gnomAD v4
17	g.63971889T>C	CA2270175594	SCN4A	c.483-39A>G (n.483-39A>G)	dbSNP
17	g.63971889T=	CA2270175593	SCN4A	c.483-39A= (n.483-39A=)
17	g.63971889_63971891del	CA2639310927	SCN4A	c.483-41_483-39del (n.483-41_483-39del)	gnomAD v4
17	g.63971890G>A	CA2270175596	SCN4A	c.483-40C>T (n.483-40C>T)	dbSNP
17	g.63971890G=	CA2270175595	SCN4A	c.483-40C= (n.483-40C=)
17	g.63971890G>T	CA2639310930	SCN4A	c.483-40C>A (n.483-40C>A)	gnomAD v4
17	g.63971891G>T	CA2639310934	SCN4A	c.483-41C>A (n.483-41C>A)	gnomAD v4
17	g.63971892G>A	CA8710153	SCN4A	c.483-42C>T (n.483-42C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971892G>C	CA2576356213	SCN4A	c.483-42C>G (n.483-42C>G)
17	g.63971892G=	CA2270175597	SCN4A	c.483-42C= (n.483-42C=)
17	g.63971893del	CA2639310935	SCN4A	c.483-43del (n.483-43del)	gnomAD v4
17	g.63971893T>C	CA292972726	SCN4A	c.483-43A>G (n.483-43A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.63971893T>G	CA2270175599	SCN4A	c.483-43A>C (n.483-43A>C)	dbSNP
17	g.63971893T=	CA2270175598	SCN4A	c.483-43A= (n.483-43A=)
17	g.63971895G>A	CA2270175601	SCN4A	c.483-45C>T (n.483-45C>T)	dbSNP gnomAD v4
17	g.63971895G=	CA2270175600	SCN4A	c.483-45C= (n.483-45C=)
17	g.63971895G>T	CA2639310938	SCN4A	c.483-45C>A (n.483-45C>A)	gnomAD v4
17	g.63971896G>T	CA2639310940	SCN4A	c.483-46C>A (n.483-46C>A)	gnomAD v4
17	g.63971897G>A	CA2270175603	SCN4A	c.483-47C>T (n.483-47C>T)	dbSNP
17	g.63971897G=	CA2270175602	SCN4A	c.483-47C= (n.483-47C=)
17	g.63971897G>T	CA2639310943	SCN4A	c.483-47C>A (n.483-47C>A)	gnomAD v4
17	g.63971898G>A	CA2639310944	SCN4A	c.483-48C>T (n.483-48C>T)	gnomAD v4
17	g.63971898G>T	CA2639310948	SCN4A	c.483-48C>A (n.483-48C>A)	gnomAD v4
17	g.63971899T>A	CA2639310949	SCN4A	c.483-49A>T (n.483-49A>T)	gnomAD v4
17	g.63971899T>G	CA985438184	SCN4A	c.483-49A>C (n.483-49A>C)	dbSNP gnomAD v3 gnomAD v4
17	g.63971899T=	CA2270175604	SCN4A	c.483-49A= (n.483-49A=)
17	g.63971900C>A	CA774008422	SCN4A	c.483-50G>T (n.483-50G>T)	dbSNP gnomAD v4
17	g.63971900C=	CA2270175605	SCN4A	c.483-50G= (n.483-50G=)
17	g.63971900C>T	CA2639310957	SCN4A	c.483-50G>A (n.483-50G>A)	gnomAD v4
17	g.63971901A>G	CA2639310960	SCN4A	c.483-51T>C (n.483-51T>C)	gnomAD v4
17	g.63971901A>T	CA2639310961	SCN4A	c.483-51T>A (n.483-51T>A)	dbSNP gnomAD v4
17	g.63971902G>T	CA2639310963	SCN4A	c.483-52C>A (n.483-52C>A)	gnomAD v4
17	g.63971903T>C	CA2639310966	SCN4A	c.483-53A>G (n.483-53A>G)	gnomAD v4
17	g.63971903_63971904insC	CA2639310967	SCN4A	c.483-54_483-53insG (n.483-54_483-53insG)	gnomAD v4
17	g.63971904G>C	CA2639310971	SCN4A	c.483-54C>G (n.483-54C>G)	gnomAD v4
17	g.63971904G>T	CA2639310974	SCN4A	c.483-54C>A (n.483-54C>A)	gnomAD v4
17	g.63971905T>A	CA2576356214	SCN4A	c.483-55A>T (n.483-55A>T)
17	g.63971906G>A	CA2639310976	SCN4A	c.483-56C>T (n.483-56C>T)	gnomAD v4
17	g.63971906G>T	CA2639310979	SCN4A	c.483-56C>A (n.483-56C>A)	gnomAD v4
17	g.63971907G>A	CA2639310980	SCN4A	c.483-57C>T (n.483-57C>T)	gnomAD v4
17	g.63971907G>T	CA2639310981	SCN4A	c.483-57C>A (n.483-57C>A)	gnomAD v4
17	g.63971908C>A	CA2639310983	SCN4A	c.483-58G>T (n.483-58G>T)	gnomAD v4
17	g.63971908C>T	CA2639310985	SCN4A	c.483-58G>A (n.483-58G>A)	gnomAD v4
17	g.63971909A>C	CA2639310990	SCN4A	c.483-59T>G (n.483-59T>G)	gnomAD v4
17	g.63971911C>A	CA774008423	SCN4A	c.483-61G>T (n.483-61G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63971911C=	CA2270175606	SCN4A	c.483-61G= (n.483-61G=)
17	g.63971911C>G	CA2639310997	SCN4A	c.483-61G>C (n.483-61G>C)	gnomAD v4
17	g.63971911C>T	CA292972728	SCN4A	c.483-61G>A (n.483-61G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971912del	CA2639311003	SCN4A	c.483-62del (n.483-62del)	gnomAD v4
17	g.63971912G>A	CA292972729	SCN4A	c.483-62C>T (n.483-62C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63971912G=	CA2270175607	SCN4A	c.483-62C= (n.483-62C=)
17	g.63971912G>T	CA2576356215	SCN4A	c.483-62C>A (n.483-62C>A)	gnomAD v4
17	g.63971913A>G	CA2639311010	SCN4A	c.483-63T>C (n.483-63T>C)	gnomAD v4
17	g.63971913A>T	CA2568870525	SCN4A	c.483-63T>A (n.483-63T>A)	gnomAD v4
17	g.63971914_63971915dup	CA2639311007	SCN4A	c.483-64_483-63dup (n.483-64_483-63dup)	gnomAD v4
17	g.63971916G>A	CA2576356216	SCN4A	c.483-66C>T (n.483-66C>T)
17	g.63971916G>T	CA2576356217	SCN4A	c.483-66C>A (n.483-66C>A)	gnomAD v4
17	g.63971917A>G	CA2639311013	SCN4A	c.483-67T>C (n.483-67T>C)	gnomAD v4
17	g.63971917_63971918delinsAC	CA2270175608	SCN4A	c.483-68_483-67delinsGT (n.483-68_483-67delinsGT)
17	g.63971918C>A	CA985438189	SCN4A	c.483-68G>T (n.483-68G>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63971918C=	CA2270175609	SCN4A	c.483-68G= (n.483-68G=)
17	g.63971922dup	CA2639311016	SCN4A	c.483-68dup (n.483-68dup)	gnomAD v4
17	g.63971922del	CA2270175610	SCN4A	c.483-68del (n.483-68del)	dbSNP gnomAD v4
17	g.63971920C>A	CA2270175612	SCN4A	c.483-70G>T (n.483-70G>T)	dbSNP gnomAD v4
17	g.63971920C=	CA2270175611	SCN4A	c.483-70G= (n.483-70G=)
17	g.63971920C>T	CA292972732	SCN4A	c.483-70G>A (n.483-70G>A)	dbSNP gnomAD v4
17	g.63971921C>A	CA2639311022	SCN4A	c.483-71G>T (n.483-71G>T)	gnomAD v4
17	g.63971921C>G	CA2639311023	SCN4A	c.483-71G>C (n.483-71G>C)	gnomAD v4
17	g.63971922C>A	CA2576356218	SCN4A	c.483-72G>T (n.483-72G>T)	gnomAD v4
17	g.63971922C>G	CA2639311025	SCN4A	c.483-72G>C (n.483-72G>C)	gnomAD v4
17	g.63971922C>T	CA2733863672	SCN4A	c.483-72G>A (n.483-72G>A)	dbSNP
17	g.63971923A>T	CA2639311026	SCN4A	c.483-73T>A (n.483-73T>A)	gnomAD v4
17	g.63971924G>A	CA656835721	SCN4A	c.483-74C>T (n.483-74C>T)	COSMIC
17	g.63971927G>A	CA985438192	SCN4A	c.483-77C>T (n.483-77C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63971927G=	CA2270175613	SCN4A	c.483-77C= (n.483-77C=)
17	g.63971927G>T	CA292972734	SCN4A	c.483-77C>A (n.483-77C>A)	dbSNP gnomAD v4
17	g.63971928G>A	CA2639311030	SCN4A	c.483-78C>T (n.483-78C>T)	gnomAD v4
17	g.63971929G>A	CA2270175615	SCN4A	c.483-79C>T (n.483-79C>T)	dbSNP gnomAD v4
17	g.63971929G=	CA2270175614	SCN4A	c.483-79C= (n.483-79C=)
17	g.63971929G>T	CA2639311032	SCN4A	c.483-79C>A (n.483-79C>A)	gnomAD v4
17	g.63971931G>A	CA985438194	SCN4A	c.483-81C>T (n.483-81C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63971931G=	CA2270175616	SCN4A	c.483-81C= (n.483-81C=)
17	g.63971932G>A	CA2270175618	SCN4A	c.483-82C>T (n.483-82C>T)	dbSNP
17	g.63971932G=	CA2270175617	SCN4A	c.483-82C= (n.483-82C=)
17	g.63971932G>T	CA2576356219	SCN4A	c.483-82C>A (n.483-82C>A)	gnomAD v4

Number of alleles fetched