Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63944681_63944683del	CA627150506	SCN4A	c.3911_3912+1del c.3911_3913del (p.Lys1304del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944675T>A	CA400617209	SCN4A	c.3910A>T (p.Lys1304Ter)	dbSNP
17	g.63944675T>C	CA400617211	SCN4A	c.3910A>G (p.Lys1304Glu)
17	g.63944675T>G	CA400617210	SCN4A	c.3910A>C (p.Lys1304Gln)
17	g.63944675T=	CA2270162627	SCN4A	c.3910A= (p.Lys1304=)
17	g.63944676C>A	CA400617212	SCN4A	c.3909G>T (p.Lys1303Asn)	gnomAD v4
17	g.63944676C>G	CA400617213	SCN4A	c.3909G>C (p.Lys1303Asn)
17	g.63944676C>T	CA501217687	SCN4A	c.3909G>A (p.Lys1303=)
17	g.63944677T>A	CA400617214	SCN4A	c.3908A>T (p.Lys1303Met)
17	g.63944677T>C	CA400617215	SCN4A	c.3908A>G (p.Lys1303Arg)	ClinVar
17	g.63944677T>G	CA400617216	SCN4A	c.3908A>C (p.Lys1303Thr)
17	g.63944678T>A	CA400617217	SCN4A	c.3907A>T (p.Lys1303Ter)	dbSNP
17	g.63944678T>C	CA400617218	SCN4A	c.3907A>G (p.Lys1303Glu)
17	g.63944678T>G	CA400617219	SCN4A	c.3907A>C (p.Lys1303Gln)
17	g.63944678T=	CA2270162628	SCN4A	c.3907A= (p.Lys1303=)
17	g.63944679C>A	CA400617220	SCN4A	c.3906G>T (p.Lys1302Asn)
17	g.63944679C=	CA2270162630	SCN4A	c.3906G= (p.Lys1302=)
17	g.63944679C>G	CA400617221	SCN4A	c.3906G>C (p.Lys1302Asn)	ClinVar
17	g.63944679C>T	CA292959309	SCN4A	c.3906G>A (p.Lys1302=)	dbSNP
17	g.63944680T>A	CA400617222	SCN4A	c.3905A>T (p.Lys1302Met)
17	g.63944680T>C	CA400617223	SCN4A	c.3905A>G (p.Lys1302Arg)
17	g.63944680T>G	CA400617224	SCN4A	c.3905A>C (p.Lys1302Thr)
17	g.63944681T>A	CA400617227	SCN4A	c.3904A>T (p.Lys1302Ter)	dbSNP
17	g.63944681T>C	CA400617225	SCN4A	c.3904A>G (p.Lys1302Glu)	ClinVar dbSNP
17	g.63944681T>G	CA400617226	SCN4A	c.3904A>C (p.Lys1302Gln)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63944681T=	CA2270162634	SCN4A	c.3904A= (p.Lys1302=)
17	g.63944681_63944684delinsTCTG	CA2270162633	SCN4A	c.3901_3904delinsCAGA (p.Gln1301=)
17	g.63944682C>A	CA400617228	SCN4A	c.3903G>T (p.Gln1301His)
17	g.63944682C>G	CA400617229	SCN4A	c.3903G>C (p.Gln1301His)
17	g.63944682C>T	CA501217716	SCN4A	c.3903G>A (p.Gln1301=)	gnomAD v4
17	g.63944685_63944687del	CA8709118	SCN4A	c.3901_3903del (p.Gln1301del)	ClinVar dbSNP ExAC gnomAD v2
17	g.63944683T>A	CA400617230	SCN4A	c.3902A>T (p.Gln1301Leu)	gnomAD v4
17	g.63944683T>C	CA400617231	SCN4A	c.3902A>G (p.Gln1301Arg)
17	g.63944683T>G	CA400617232	SCN4A	c.3902A>C (p.Gln1301Pro)
17	g.63944684G>A	CA400617233	SCN4A	c.3901C>T (p.Gln1301Ter)
17	g.63944684G>C	CA400617234	SCN4A	c.3901C>G (p.Gln1301Glu)
17	g.63944684G>T	CA400617235	SCN4A	c.3901C>A (p.Gln1301Lys)
17	g.63944685C>A	CA400617236	SCN4A	c.3900G>T (p.Gln1300His)
17	g.63944685C>G	CA400617237	SCN4A	c.3900G>C (p.Gln1300His)	gnomAD v4
17	g.63944685C>T	CA501217730	SCN4A	c.3900G>A (p.Gln1300=)	gnomAD v4
17	g.63944686T>A	CA400617240	SCN4A	c.3899A>T (p.Gln1300Leu)	dbSNP gnomAD v2
17	g.63944686T>C	CA400617239	SCN4A	c.3899A>G (p.Gln1300Arg)
17	g.63944686T>G	CA400617238	SCN4A	c.3899A>C (p.Gln1300Pro)
17	g.63944686T=	CA2270162636	SCN4A	c.3899A= (p.Gln1300=)
17	g.63944687G>A	CA400617241	SCN4A	c.3898C>T (p.Gln1300Ter)
17	g.63944687G>C	CA400617242	SCN4A	c.3898C>G (p.Gln1300Glu)	ClinVar dbSNP gnomAD v2
17	g.63944687G=	CA2270162638	SCN4A	c.3898C= (p.Gln1300=)
17	g.63944687G>T	CA400617243	SCN4A	c.3898C>A (p.Gln1300Lys)
17	g.63944688G>A	CA501217745	SCN4A	c.3897C>T (p.Asn1299=)	ClinVar gnomAD v4
17	g.63944688G>C	CA400617244	SCN4A	c.3897C>G (p.Asn1299Lys)
17	g.63944688G=	CA2270162641	SCN4A	c.3897C= (p.Asn1299=)
17	g.63944688G>T	CA400617245	SCN4A	c.3897C>A (p.Asn1299Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.63944689T>A	CA400617246	SCN4A	c.3896A>T (p.Asn1299Ile)	ClinVar dbSNP
17	g.63944689T>C	CA400617247	SCN4A	c.3896A>G (p.Asn1299Ser)	gnomAD v4
17	g.63944689T>G	CA400617248	SCN4A	c.3896A>C (p.Asn1299Thr)
17	g.63944690T>A	CA400617249	SCN4A	c.3895A>T (p.Asn1299Tyr)
17	g.63944690T>C	CA400617250	SCN4A	c.3895A>G (p.Asn1299Asp)
17	g.63944690T>G	CA400617251	SCN4A	c.3895A>C (p.Asn1299His)
17	g.63944691G>A	CA501217759	SCN4A	c.3894C>T (p.Phe1298=)
17	g.63944691G>C	CA400617252	SCN4A	c.3894C>G (p.Phe1298Leu)
17	g.63944691G>T	CA400617253	SCN4A	c.3894C>A (p.Phe1298Leu)
17	g.63944692A=	CA2270162643	SCN4A	c.3893T= (p.Phe1298=)
17	g.63944692A>C	CA10605700	SCN4A	c.3893T>G (p.Phe1298Cys)	ClinVar dbSNP gnomAD v4
17	g.63944692A>G	CA400617254	SCN4A	c.3893T>C (p.Phe1298Ser)	dbSNP gnomAD v2
17	g.63944692A>T	CA400617255	SCN4A	c.3893T>A (p.Phe1298Tyr)
17	g.63944693A>C	CA400617256	SCN4A	c.3892T>G (p.Phe1298Val)
17	g.63944693A>G	CA400617257	SCN4A	c.3892T>C (p.Phe1298Leu)
17	g.63944693A>T	CA400617258	SCN4A	c.3892T>A (p.Phe1298Ile)
17	g.63944694G>A	CA501217769	SCN4A	c.3891C>T (p.Asn1297=)
17	g.63944694G>C	CA400617259	SCN4A	c.3891C>G (p.Asn1297Lys)
17	g.63944694G=	CA2270162646	SCN4A	c.3891C= (p.Asn1297=)
17	g.63944694G>T	CA117854	SCN4A	c.3891C>A (p.Asn1297Lys)	ClinVar dbSNP
17	g.63944695T>A	CA400617260	SCN4A	c.3890A>T (p.Asn1297Ile)
17	g.63944695T>C	CA400617261	SCN4A	c.3890A>G (p.Asn1297Ser)	ClinVar gnomAD v4
17	g.63944695T>G	CA400617262	SCN4A	c.3890A>C (p.Asn1297Thr)
17	g.63944696T>A	CA400617263	SCN4A	c.3889A>T (p.Asn1297Tyr)
17	g.63944696T>C	CA400617264	SCN4A	c.3889A>G (p.Asn1297Asp)
17	g.63944696T>G	CA400617265	SCN4A	c.3889A>C (p.Asn1297His)
17	g.63944697G>A	CA8709119	SCN4A	c.3888C>T (p.Asp1296=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944697G>C	CA400617266	SCN4A	c.3888C>G (p.Asp1296Glu)	gnomAD v4
17	g.63944697G=	CA2270162648	SCN4A	c.3888C= (p.Asp1296=)
17	g.63944697G>T	CA292959320	SCN4A	c.3888C>A (p.Asp1296Glu)	dbSNP
17	g.63944698T>A	CA400617267	SCN4A	c.3887A>T (p.Asp1296Val)
17	g.63944698T>C	CA400617269	SCN4A	c.3887A>G (p.Asp1296Gly)
17	g.63944698T>G	CA400617268	SCN4A	c.3887A>C (p.Asp1296Ala)
17	g.63944699C>A	CA400617270	SCN4A	c.3886G>T (p.Asp1296Tyr)	gnomAD v4
17	g.63944699C>G	CA400617271	SCN4A	c.3886G>C (p.Asp1296His)
17	g.63944699C>T	CA400617272	SCN4A	c.3886G>A (p.Asp1296Asn)
17	g.63944700A=	CA2270162650	SCN4A	c.3885T= (p.Ile1295=)
17	g.63944700A>C	CA400617273	SCN4A	c.3885T>G (p.Ile1295Met)
17	g.63944700A>G	CA501217795	SCN4A	c.3885T>C (p.Ile1295=)	dbSNP
17	g.63944700A>T	CA501217797	SCN4A	c.3885T>A (p.Ile1295=)
17	g.63944701A=	CA2270162652	SCN4A	c.3884T= (p.Ile1295=)
17	g.63944701A>C	CA400617274	SCN4A	c.3884T>G (p.Ile1295Ser)
17	g.63944701A>G	CA8709120	SCN4A	c.3884T>C (p.Ile1295Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944701A>T	CA400617275	SCN4A	c.3884T>A (p.Ile1295Asn)	dbSNP
17	g.63944702T>A	CA400617276	SCN4A	c.3883A>T (p.Ile1295Phe)
17	g.63944702T>C	CA400617277	SCN4A	c.3883A>G (p.Ile1295Val)
17	g.63944702T>G	CA400617278	SCN4A	c.3883A>C (p.Ile1295Leu)
17	g.63944703G>A	CA501217807	SCN4A	c.3882C>T (p.Ile1294=)	dbSNP gnomAD v2 gnomAD v4
17	g.63944703G>C	CA400617279	SCN4A	c.3882C>G (p.Ile1294Met)
17	g.63944703G=	CA2270162654	SCN4A	c.3882C= (p.Ile1294=)
17	g.63944703G>T	CA501217809	SCN4A	c.3882C>A (p.Ile1294=)
17	g.63944704A>C	CA400617282	SCN4A	c.3881T>G (p.Ile1294Ser)
17	g.63944704A>G	CA400617281	SCN4A	c.3881T>C (p.Ile1294Thr)
17	g.63944704A>T	CA400617280	SCN4A	c.3881T>A (p.Ile1294Asn)
17	g.63944705T>A	CA400617283	SCN4A	c.3880A>T (p.Ile1294Phe)
17	g.63944705T>C	CA400617284	SCN4A	c.3880A>G (p.Ile1294Val)	gnomAD v4
17	g.63944705T>G	CA400617285	SCN4A	c.3880A>C (p.Ile1294Leu)
17	g.63944706G>A	CA501217824	SCN4A	c.3879C>T (p.Val1293=)
17	g.63944706G>C	CA501217823	SCN4A	c.3879C>G (p.Val1293=)
17	g.63944706G=	CA2270162656	SCN4A	c.3879C= (p.Val1293=)
17	g.63944706G>T	CA501217821	SCN4A	c.3879C>A (p.Val1293=)	dbSNP gnomAD v4
17	g.63944707A>C	CA400617286	SCN4A	c.3878T>G (p.Val1293Gly)
17	g.63944707A>G	CA400617287	SCN4A	c.3878T>C (p.Val1293Ala)
17	g.63944707A>T	CA400617288	SCN4A	c.3878T>A (p.Val1293Asp)
17	g.63944708C>A	CA400617289	SCN4A	c.3877G>T (p.Val1293Phe)
17	g.63944708C=	CA2270162658	SCN4A	c.3877G= (p.Val1293=)
17	g.63944708C>G	CA400617290	SCN4A	c.3877G>C (p.Val1293Leu)	ClinVar
17	g.63944708C>T	CA117846	SCN4A	c.3877G>A (p.Val1293Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63944709G>A	CA501217836	SCN4A	c.3876C>T (p.Gly1292=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63944709G>C	CA501217837	SCN4A	c.3876C>G (p.Gly1292=)
17	g.63944709G=	CA2270162660	SCN4A	c.3876C= (p.Gly1292=)
17	g.63944709G>T	CA501217838	SCN4A	c.3876C>A (p.Gly1292=)
17	g.63944710C>A	CA400617291	SCN4A	c.3875G>T (p.Gly1292Val)
17	g.63944710C>G	CA400617292	SCN4A	c.3875G>C (p.Gly1292Ala)
17	g.63944710C>T	CA400617293	SCN4A	c.3875G>A (p.Gly1292Asp)
17	g.63944711del	CA2810127427	SCN4A	c.3875del (p.Gly1292AlafsTer14)
17	g.63944711C>A	CA400617296	SCN4A	c.3874G>T (p.Gly1292Cys)
17	g.63944711C=	CA2270162662	SCN4A	c.3874G= (p.Gly1292=)
17	g.63944711C>G	CA400617295	SCN4A	c.3874G>C (p.Gly1292Arg)
17	g.63944711C>T	CA400617294	SCN4A	c.3874G>A (p.Gly1292Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944712A>C	CA400617297	SCN4A	c.3873T>G (p.Ile1291Met)
17	g.63944712A>G	CA501217853	SCN4A	c.3873T>C (p.Ile1291=)
17	g.63944712A>T	CA501217851	SCN4A	c.3873T>A (p.Ile1291=)
17	g.63944713del	CA2639309938	SCN4A	c.3873del (p.Ile1291MetfsTer15)	gnomAD v4
17	g.63944713A=	CA2270162664	SCN4A	c.3872T= (p.Ile1291=)
17	g.63944713A>C	CA400617298	SCN4A	c.3872T>G (p.Ile1291Ser)
17	g.63944713A>G	CA8709121	SCN4A	c.3872T>C (p.Ile1291Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944713A>T	CA400617299	SCN4A	c.3872T>A (p.Ile1291Asn)
17	g.63944714T>A	CA400617300	SCN4A	c.3871A>T (p.Ile1291Phe)
17	g.63944714T>C	CA8709122	SCN4A	c.3871A>G (p.Ile1291Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944714T>G	CA400617301	SCN4A	c.3871A>C (p.Ile1291Leu)
17	g.63944714T=	CA2270162666	SCN4A	c.3871A= (p.Ile1291=)
17	g.63944715G>A	CA501217863	SCN4A	c.3870C>T (p.Phe1290=)	ClinVar gnomAD v4 COSMIC
17	g.63944715G>C	CA400617302	SCN4A	c.3870C>G (p.Phe1290Leu)
17	g.63944715G>T	CA400617303	SCN4A	c.3870C>A (p.Phe1290Leu)
17	g.63944716A>C	CA400617304	SCN4A	c.3869T>G (p.Phe1290Cys)
17	g.63944716A>G	CA400617305	SCN4A	c.3869T>C (p.Phe1290Ser)
17	g.63944716A>T	CA400617306	SCN4A	c.3869T>A (p.Phe1290Tyr)
17	g.63944717A>C	CA400617309	SCN4A	c.3868T>G (p.Phe1290Val)
17	g.63944717A>G	CA400617308	SCN4A	c.3868T>C (p.Phe1290Leu)	ClinVar
17	g.63944717A>T	CA400617307	SCN4A	c.3868T>A (p.Phe1290Ile)
17	g.63944718G>A	CA501217877	SCN4A	c.3867C>T (p.Leu1289=)	COSMIC
17	g.63944718G>C	CA501217879	SCN4A	c.3867C>G (p.Leu1289=)
17	g.63944718G>T	CA501217882	SCN4A	c.3867C>A (p.Leu1289=)
17	g.63944718_63944719delinsGA	CA2270162669	SCN4A	c.3866_3867delinsTC (p.Leu1289=)
17	g.63944719del	CA292959362	SCN4A	c.3866del (p.Leu1289ProfsTer17)	dbSNP
17	g.63944719A>C	CA400617310	SCN4A	c.3866T>G (p.Leu1289Arg)
17	g.63944719A>G	CA400617311	SCN4A	c.3866T>C (p.Leu1289Pro)
17	g.63944719A>T	CA400617312	SCN4A	c.3866T>A (p.Leu1289His)
17	g.63944720G>A	CA400617313	SCN4A	c.3865C>T (p.Leu1289Phe)	dbSNP gnomAD v4
17	g.63944720G>C	CA400617314	SCN4A	c.3865C>G (p.Leu1289Val)
17	g.63944720G=	CA2270162671	SCN4A	c.3865C= (p.Leu1289=)
17	g.63944720G>T	CA400617315	SCN4A	c.3865C>A (p.Leu1289Ile)
17	g.63944721G>A	CA501217897	SCN4A	c.3864C>T (p.Asn1288=)
17	g.63944721G>C	CA400617316	SCN4A	c.3864C>G (p.Asn1288Lys)
17	g.63944721G>T	CA400617317	SCN4A	c.3864C>A (p.Asn1288Lys)
17	g.63944722T>A	CA400617318	SCN4A	c.3863A>T (p.Asn1288Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.63944722T>C	CA8709123	SCN4A	c.3863A>G (p.Asn1288Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944722T>G	CA400617319	SCN4A	c.3863A>C (p.Asn1288Thr)	gnomAD v4
17	g.63944722T=	CA2270162673	SCN4A	c.3863A= (p.Asn1288=)
17	g.63944723T>A	CA400617320	SCN4A	c.3862A>T (p.Asn1288Tyr)
17	g.63944723T>C	CA400617322	SCN4A	c.3862A>G (p.Asn1288Asp)
17	g.63944723T>G	CA400617321	SCN4A	c.3862A>C (p.Asn1288His)
17	g.63944724G>A	CA501217909	SCN4A	c.3861C>T (p.Leu1287=)
17	g.63944724G>C	CA501217910	SCN4A	c.3861C>G (p.Leu1287=)
17	g.63944724G>T	CA501217912	SCN4A	c.3861C>A (p.Leu1287=)
17	g.63944725A>C	CA400617323	SCN4A	c.3860T>G (p.Leu1287Arg)
17	g.63944725A>G	CA400617325	SCN4A	c.3860T>C (p.Leu1287Pro)
17	g.63944725A>T	CA400617324	SCN4A	c.3860T>A (p.Leu1287His)
17	g.63944726G>A	CA8709124	SCN4A	c.3859C>T (p.Leu1287Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944726G>C	CA400617327	SCN4A	c.3859C>G (p.Leu1287Val)
17	g.63944726G=	CA2270162675	SCN4A	c.3859C= (p.Leu1287=)
17	g.63944726G>T	CA400617326	SCN4A	c.3859C>A (p.Leu1287Ile)
17	g.63944727G>A	CA8709125	SCN4A	c.3858C>T (p.Thr1286=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944727G>C	CA501217927	SCN4A	c.3858C>G (p.Thr1286=)
17	g.63944727G=	CA2270162677	SCN4A	c.3858C= (p.Thr1286=)
17	g.63944727G>T	CA501217925	SCN4A	c.3858C>A (p.Thr1286=)
17	g.63944728G>A	CA400617330	SCN4A	c.3857C>T (p.Thr1286Ile)
17	g.63944728G>C	CA400617328	SCN4A	c.3857C>G (p.Thr1286Ser)
17	g.63944728G>T	CA400617329	SCN4A	c.3857C>A (p.Thr1286Asn)
17	g.63944729T>A	CA400617331	SCN4A	c.3856A>T (p.Thr1286Ser)
17	g.63944729T>C	CA400617332	SCN4A	c.3856A>G (p.Thr1286Ala)
17	g.63944729T>G	CA400617333	SCN4A	c.3856A>C (p.Thr1286Pro)
17	g.63944730G>A	CA501217934	SCN4A	c.3855C>T (p.Phe1285=)
17	g.63944730G>C	CA400617334	SCN4A	c.3855C>G (p.Phe1285Leu)
17	g.63944730G>T	CA400617335	SCN4A	c.3855C>A (p.Phe1285Leu)
17	g.63944731A>C	CA400617336	SCN4A	c.3854T>G (p.Phe1285Cys)
17	g.63944731A>G	CA400617337	SCN4A	c.3854T>C (p.Phe1285Ser)
17	g.63944731A>T	CA400617338	SCN4A	c.3854T>A (p.Phe1285Tyr)
17	g.63944732A=	CA2270162679	SCN4A	c.3853T= (p.Phe1285=)
17	g.63944732A>C	CA400617339	SCN4A	c.3853T>G (p.Phe1285Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944732A>G	CA292959388	SCN4A	c.3853T>C (p.Phe1285Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63944732A>T	CA400617340	SCN4A	c.3853T>A (p.Phe1285Ile)
17	g.63944733G>A	CA501217946	SCN4A	c.3852C>T (p.Phe1284=)
17	g.63944733G>C	CA400617341	SCN4A	c.3852C>G (p.Phe1284Leu)
17	g.63944733G>T	CA400617342	SCN4A	c.3852C>A (p.Phe1284Leu)
17	g.63944734A=	CA2270162682	SCN4A	c.3851T= (p.Phe1284=)
17	g.63944734A>C	CA400617343	SCN4A	c.3851T>G (p.Phe1284Cys)
17	g.63944734A>G	CA400617344	SCN4A	c.3851T>C (p.Phe1284Ser)
17	g.63944734A>T	CA8709126	SCN4A	c.3851T>A (p.Phe1284Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944735A>C	CA400617345	SCN4A	c.3850T>G (p.Phe1284Val)
17	g.63944735A>G	CA400617346	SCN4A	c.3850T>C (p.Phe1284Leu)
17	g.63944735A>T	CA400617347	SCN4A	c.3850T>A (p.Phe1284Ile)
17	g.63944736G>A	CA8709127	SCN4A	c.3849C>T (p.Ser1283=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63944736G>C	CA501217961	SCN4A	c.3849C>G (p.Ser1283=)
17	g.63944736G=	CA2270162684	SCN4A	c.3849C= (p.Ser1283=)
17	g.63944736G>T	CA501217963	SCN4A	c.3849C>A (p.Ser1283=)
17	g.63944737G>A	CA400617348	SCN4A	c.3848C>T (p.Ser1283Phe)
17	g.63944737G>C	CA400617349	SCN4A	c.3848C>G (p.Ser1283Cys)
17	g.63944737G>T	CA400617350	SCN4A	c.3848C>A (p.Ser1283Tyr)
17	g.63944738A>C	CA400617353	SCN4A	c.3847T>G (p.Ser1283Ala)
17	g.63944738A>G	CA400617352	SCN4A	c.3847T>C (p.Ser1283Pro)
17	g.63944738A>T	CA400617351	SCN4A	c.3847T>A (p.Ser1283Thr)
17	g.63944739G>A	CA501217975	SCN4A	c.3846C>T (p.Gly1282=)	gnomAD v4
17	g.63944739G>C	CA501217976	SCN4A	c.3846C>G (p.Gly1282=)
17	g.63944739G>T	CA501217977	SCN4A	c.3846C>A (p.Gly1282=)
17	g.63944740C>A	CA400617354	SCN4A	c.3845G>T (p.Gly1282Val)	gnomAD v4
17	g.63944740C>G	CA400617355	SCN4A	c.3845G>C (p.Gly1282Ala)
17	g.63944740C>T	CA400617356	SCN4A	c.3845G>A (p.Gly1282Asp)	COSMIC
17	g.63944741C>A	CA400617357	SCN4A	c.3844G>T (p.Gly1282Cys)
17	g.63944741C>G	CA400617358	SCN4A	c.3844G>C (p.Gly1282Arg)	gnomAD v4
17	g.63944741C>T	CA400617359	SCN4A	c.3844G>A (p.Gly1282Ser)
17	g.63944742A>C	CA400617360	SCN4A	c.3843T>G (p.Phe1281Leu)	gnomAD v4
17	g.63944742A>G	CA501217978	SCN4A	c.3843T>C (p.Phe1281=)	gnomAD v4
17	g.63944742A>T	CA400617361	SCN4A	c.3843T>A (p.Phe1281Leu)
17	g.63944743A>C	CA400617362	SCN4A	c.3842T>G (p.Phe1281Cys)
17	g.63944743A>G	CA400617363	SCN4A	c.3842T>C (p.Phe1281Ser)
17	g.63944743A>T	CA400617364	SCN4A	c.3842T>A (p.Phe1281Tyr)
17	g.63944744A>C	CA400617367	SCN4A	c.3841T>G (p.Phe1281Val)	COSMIC
17	g.63944744A>G	CA400617366	SCN4A	c.3841T>C (p.Phe1281Leu)
17	g.63944744A>T	CA400617365	SCN4A	c.3841T>A (p.Phe1281Ile)
17	g.63944745G>A	CA501217979	SCN4A	c.3840C>T (p.Ile1280=)	dbSNP
17	g.63944745G>C	CA400617368	SCN4A	c.3840C>G (p.Ile1280Met)
17	g.63944745G=	CA2270162686	SCN4A	c.3840C= (p.Ile1280=)
17	g.63944745G>T	CA501217980	SCN4A	c.3840C>A (p.Ile1280=)
17	g.63944746A>C	CA400617369	SCN4A	c.3839T>G (p.Ile1280Ser)
17	g.63944746A>G	CA400617370	SCN4A	c.3839T>C (p.Ile1280Thr)
17	g.63944746A>T	CA400617371	SCN4A	c.3839T>A (p.Ile1280Asn)
17	g.63944747T>A	CA400617372	SCN4A	c.3838A>T (p.Ile1280Phe)
17	g.63944747T>C	CA400617373	SCN4A	c.3838A>G (p.Ile1280Val)	dbSNP gnomAD v3 gnomAD v4
17	g.63944747T>G	CA8709128	SCN4A	c.3838A>C (p.Ile1280Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944747T=	CA2270162688	SCN4A	c.3838A= (p.Ile1280=)
17	g.63944748G>A	CA8709129	SCN4A	c.3837C>T (p.Ile1279=)	dbSNP ExAC gnomAD v4 COSMIC
17	g.63944748G>C	CA400617374	SCN4A	c.3837C>G (p.Ile1279Met)
17	g.63944748G=	CA2270162690	SCN4A	c.3837C= (p.Ile1279=)
17	g.63944748G>T	CA501217981	SCN4A	c.3837C>A (p.Ile1279=)
17	g.63944749A>C	CA400617375	SCN4A	c.3836T>G (p.Ile1279Ser)
17	g.63944749A>G	CA400617376	SCN4A	c.3836T>C (p.Ile1279Thr)
17	g.63944749A>T	CA400617377	SCN4A	c.3836T>A (p.Ile1279Asn)
17	g.63944750T>A	CA400617379	SCN4A	c.3835A>T (p.Ile1279Phe)
17	g.63944750T>C	CA8709130	SCN4A	c.3835A>G (p.Ile1279Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944750T>G	CA400617378	SCN4A	c.3835A>C (p.Ile1279Leu)
17	g.63944750T=	CA2270162692	SCN4A	c.3835A= (p.Ile1279=)
17	g.63944751G>A	CA292959406	SCN4A	c.3834C>T (p.Phe1278=)	dbSNP gnomAD v3 gnomAD v4
17	g.63944751G>C	CA400617381	SCN4A	c.3834C>G (p.Phe1278Leu)
17	g.63944751G=	CA2270162694	SCN4A	c.3834C= (p.Phe1278=)
17	g.63944751G>T	CA400617380	SCN4A	c.3834C>A (p.Phe1278Leu)
17	g.63944752A>C	CA400617382	SCN4A	c.3833T>G (p.Phe1278Cys)
17	g.63944752A>G	CA400617383	SCN4A	c.3833T>C (p.Phe1278Ser)	gnomAD v4
17	g.63944752A>T	CA400617384	SCN4A	c.3833T>A (p.Phe1278Tyr)
17	g.63944753A>C	CA400617385	SCN4A	c.3832T>G (p.Phe1278Val)
17	g.63944753A>G	CA400617386	SCN4A	c.3832T>C (p.Phe1278Leu)
17	g.63944753A>T	CA400617387	SCN4A	c.3832T>A (p.Phe1278Ile)
17	g.63944754G>A	CA501218000	SCN4A	c.3831C>T (p.Ile1277=)	ClinVar gnomAD v4
17	g.63944754G>C	CA400617388	SCN4A	c.3831C>G (p.Ile1277Met)
17	g.63944754G>T	CA501218003	SCN4A	c.3831C>A (p.Ile1277=)	ClinVar
17	g.63944755A>C	CA400617389	SCN4A	c.3830T>G (p.Ile1277Ser)
17	g.63944755A>G	CA400617390	SCN4A	c.3830T>C (p.Ile1277Thr)
17	g.63944755A>T	CA400617391	SCN4A	c.3830T>A (p.Ile1277Asn)
17	g.63944756T>A	CA8709131	SCN4A	c.3829A>T (p.Ile1277Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944756T>C	CA8709132	SCN4A	c.3829A>G (p.Ile1277Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63944756T>G	CA400617392	SCN4A	c.3829A>C (p.Ile1277Leu)
17	g.63944756T=	CA2270162696	SCN4A	c.3829A= (p.Ile1277=)
17	g.63944757G>A	CA501218009	SCN4A	c.3828C>T (p.Val1276=)
17	g.63944757G>C	CA501218011	SCN4A	c.3828C>G (p.Val1276=)
17	g.63944757G>T	CA501218013	SCN4A	c.3828C>A (p.Val1276=)
17	g.63944758A>C	CA400617393	SCN4A	c.3827T>G (p.Val1276Gly)
17	g.63944758A>G	CA400617394	SCN4A	c.3827T>C (p.Val1276Ala)	gnomAD v4
17	g.63944758A>T	CA400617395	SCN4A	c.3827T>A (p.Val1276Asp)
17	g.63944759C>A	CA400617396	SCN4A	c.3826G>T (p.Val1276Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944759C=	CA2270162699	SCN4A	c.3826G= (p.Val1276=)
17	g.63944759C>G	CA400617397	SCN4A	c.3826G>C (p.Val1276Leu)	COSMIC
17	g.63944759C>T	CA400617398	SCN4A	c.3826G>A (p.Val1276Ile)
17	g.63944760A>C	CA400617399	SCN4A	c.3825T>G (p.Phe1275Leu)
17	g.63944760A>G	CA501218028	SCN4A	c.3825T>C (p.Phe1275=)
17	g.63944760A>T	CA400617400	SCN4A	c.3825T>A (p.Phe1275Leu)
17	g.63944761A>C	CA400617401	SCN4A	c.3824T>G (p.Phe1275Cys)
17	g.63944761A>G	CA400617402	SCN4A	c.3824T>C (p.Phe1275Ser)
17	g.63944761A>T	CA400617403	SCN4A	c.3824T>A (p.Phe1275Tyr)
17	g.63944762A>C	CA400617405	SCN4A	c.3823T>G (p.Phe1275Val)
17	g.63944762A>G	CA400617406	SCN4A	c.3823T>C (p.Phe1275Leu)
17	g.63944762A>T	CA400617404	SCN4A	c.3823T>A (p.Phe1275Ile)
17	g.63944763G>A	CA501218044	SCN4A	c.3822C>T (p.Tyr1274=)
17	g.63944763G>C	CA400617407	SCN4A	c.3822C>G (p.Tyr1274Ter)
17	g.63944763G>T	CA400617408	SCN4A	c.3822C>A (p.Tyr1274Ter)
17	g.63944764T>A	CA400617409	SCN4A	c.3821A>T (p.Tyr1274Phe)
17	g.63944764T>C	CA400617410	SCN4A	c.3821A>G (p.Tyr1274Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63944764T>G	CA400617411	SCN4A	c.3821A>C (p.Tyr1274Ser)
17	g.63944764T=	CA2270162702	SCN4A	c.3821A= (p.Tyr1274=)
17	g.63944765A>C	CA400617412	SCN4A	c.3820T>G (p.Tyr1274Asp)
17	g.63944765A>G	CA400617413	SCN4A	c.3820T>C (p.Tyr1274His)
17	g.63944765A>T	CA400617414	SCN4A	c.3820T>A (p.Tyr1274Asn)
17	g.63944766G>A	CA501218054	SCN4A	c.3819C>T (p.Leu1273=)	COSMIC
17	g.63944766G>C	CA501218056	SCN4A	c.3819C>G (p.Leu1273=)
17	g.63944766G>T	CA501218058	SCN4A	c.3819C>A (p.Leu1273=)
17	g.63944767A>C	CA400617415	SCN4A	c.3818T>G (p.Leu1273Arg)
17	g.63944767A>G	CA400617416	SCN4A	c.3818T>C (p.Leu1273Pro)
17	g.63944767A>T	CA400617417	SCN4A	c.3818T>A (p.Leu1273His)
17	g.63944768G>A	CA400617419	SCN4A	c.3817C>T (p.Leu1273Phe)	gnomAD v4
17	g.63944768G>C	CA400617420	SCN4A	c.3817C>G (p.Leu1273Val)
17	g.63944768G>T	CA400617418	SCN4A	c.3817C>A (p.Leu1273Ile)
17	g.63944769G>A	CA501218070	SCN4A	c.3816C>T (p.Tyr1272=)	ClinVar gnomAD v4
17	g.63944769G>C	CA400617421	SCN4A	c.3816C>G (p.Tyr1272Ter)
17	g.63944769G>T	CA400617422	SCN4A	c.3816C>A (p.Tyr1272Ter)
17	g.63944770T>A	CA400617423	SCN4A	c.3815A>T (p.Tyr1272Phe)
17	g.63944770T>C	CA400617424	SCN4A	c.3815A>G (p.Tyr1272Cys)
17	g.63944770T>G	CA400617425	SCN4A	c.3815A>C (p.Tyr1272Ser)
17	g.63944771A>C	CA400617428	SCN4A	c.3814T>G (p.Tyr1272Asp)
17	g.63944771A>G	CA400617426	SCN4A	c.3814T>C (p.Tyr1272His)
17	g.63944771A>T	CA400617427	SCN4A	c.3814T>A (p.Tyr1272Asn)
17	g.63944772C>A	CA400617429	SCN4A	c.3813G>T (p.Met1271Ile)	dbSNP gnomAD v2
17	g.63944772C=	CA2270162704	SCN4A	c.3813G= (p.Met1271=)
17	g.63944772C>G	CA400617430	SCN4A	c.3813G>C (p.Met1271Ile)
17	g.63944772C>T	CA400617431	SCN4A	c.3813G>A (p.Met1271Ile)
17	g.63944773A>C	CA400617432	SCN4A	c.3812T>G (p.Met1271Arg)
17	g.63944773A>G	CA400617433	SCN4A	c.3812T>C (p.Met1271Thr)
17	g.63944773A>T	CA400617434	SCN4A	c.3812T>A (p.Met1271Lys)
17	g.63944774T>A	CA400617436	SCN4A	c.3811A>T (p.Met1271Leu)	COSMIC
17	g.63944774T>C	CA400617437	SCN4A	c.3811A>G (p.Met1271Val)	ClinVar dbSNP gnomAD v4
17	g.63944774T>G	CA400617435	SCN4A	c.3811A>C (p.Met1271Leu)
17	g.63944775G>A	CA501218098	SCN4A	c.3810C>T (p.Tyr1270=)
17	g.63944775G>C	CA400617439	SCN4A	c.3810C>G (p.Tyr1270Ter)
17	g.63944775G>T	CA400617438	SCN4A	c.3810C>A (p.Tyr1270Ter)

Number of alleles fetched