Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63947074_63947091dup	CA2639315708	SCN4A	c.3399_3416dup (p.Ala1139_Leu1140insLeuArgProLeuArgAla)	gnomAD v4
17	g.63947078_63947095dup	CA919876810	SCN4A	c.3394_3411dup (p.Leu1137_Arg1138insArgAlaLeuArgProLeu)	dbSNP
17	g.63947089C>A	CA400619439	SCN4A	c.3397G>T (p.Ala1133Ser)
17	g.63947089C>G	CA400619442	SCN4A	c.3397G>C (p.Ala1133Pro)
17	g.63947089C>T	CA400619447	SCN4A	c.3397G>A (p.Ala1133Thr)
17	g.63947091del	CA2580094600	SCN4A	c.3397del (p.Ala1133ProfsTer5)	ClinVar
17	g.63947090C>A	CA501219822	SCN4A	c.3396G>T (p.Arg1132=)	dbSNP
17	g.63947090C=	CA2270163778	SCN4A	c.3396G= (p.Arg1132=)
17	g.63947090C>G	CA501219827	SCN4A	c.3396G>C (p.Arg1132=)
17	g.63947090C>T	CA501219825	SCN4A	c.3396G>A (p.Arg1132=)	dbSNP gnomAD v2 gnomAD v4
17	g.63947091C>A	CA400619457	SCN4A	c.3395G>T (p.Arg1132Leu)
17	g.63947091C=	CA2270163779	SCN4A	c.3395G= (p.Arg1132=)
17	g.63947091C>G	CA400619454	SCN4A	c.3395G>C (p.Arg1132Pro)
17	g.63947091C>T	CA263213	SCN4A	c.3395G>A (p.Arg1132Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947092G>A	CA8709291	SCN4A	c.3394C>T (p.Arg1132Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947092G>C	CA400619461	SCN4A	c.3394C>G (p.Arg1132Gly)	ClinVar dbSNP
17	g.63947092G=	CA2270163780	SCN4A	c.3394C= (p.Arg1132=)
17	g.63947092G>T	CA501219837	SCN4A	c.3394C>A (p.Arg1132=)	ClinVar dbSNP gnomAD v2
17	g.63947093C>A	CA501219841	SCN4A	c.3393G>T (p.Leu1131=)
17	g.63947093C>G	CA501219844	SCN4A	c.3393G>C (p.Leu1131=)
17	g.63947093C>T	CA501219845	SCN4A	c.3393G>A (p.Leu1131=)
17	g.63947094A=	CA2270163781	SCN4A	c.3392T= (p.Leu1131=)
17	g.63947094A>C	CA400619466	SCN4A	c.3392T>G (p.Leu1131Arg)	ClinVar gnomAD v4
17	g.63947094A>G	CA8709292	SCN4A	c.3392T>C (p.Leu1131Pro)	dbSNP ExAC gnomAD v2
17	g.63947094A>T	CA400619470	SCN4A	c.3392T>A (p.Leu1131Gln)
17	g.63947095G>A	CA501219850	SCN4A	c.3391C>T (p.Leu1131=)
17	g.63947095G>C	CA400619473	SCN4A	c.3391C>G (p.Leu1131Val)
17	g.63947095G=	CA2270163782	SCN4A	c.3391C= (p.Leu1131=)
17	g.63947095G>T	CA8709293	SCN4A	c.3391C>A (p.Leu1131Met)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947096T>A	CA501219857	SCN4A	c.3390A>T (p.Thr1130=)
17	g.63947096T>C	CA8709294	SCN4A	c.3390A>G (p.Thr1130=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947096T>G	CA501219862	SCN4A	c.3390A>C (p.Thr1130=)	gnomAD v4
17	g.63947096T=	CA2270163783	SCN4A	c.3390A= (p.Thr1130=)
17	g.63947097G>A	CA400619480	SCN4A	c.3389C>T (p.Thr1130Ile)
17	g.63947097G>C	CA400619483	SCN4A	c.3389C>G (p.Thr1130Arg)
17	g.63947097G>T	CA400619487	SCN4A	c.3389C>A (p.Thr1130Lys)
17	g.63947098T>A	CA400619491	SCN4A	c.3388A>T (p.Thr1130Ser)
17	g.63947098T>C	CA400619494	SCN4A	c.3388A>G (p.Thr1130Ala)
17	g.63947098T>G	CA400619496	SCN4A	c.3388A>C (p.Thr1130Pro)
17	g.63947099C>A	CA501219874	SCN4A	c.3387G>T (p.Arg1129=)
17	g.63947099C>G	CA501219877	SCN4A	c.3387G>C (p.Arg1129=)
17	g.63947099C>T	CA501219879	SCN4A	c.3387G>A (p.Arg1129=)	COSMIC
17	g.63947100C>A	CA400620459	SCN4A	c.3386G>T (p.Arg1129Leu)
17	g.63947100C=	CA2270163784	SCN4A	c.3386G= (p.Arg1129=)
17	g.63947100C>G	CA292962517	SCN4A	c.3386G>C (p.Arg1129Pro)	ClinVar dbSNP
17	g.63947100C>T	CA345719	SCN4A	c.3386G>A (p.Arg1129Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947101G>A	CA8709295	SCN4A	c.3385C>T (p.Arg1129Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63947101G>C	CA400620464	SCN4A	c.3385C>G (p.Arg1129Gly)
17	g.63947101G=	CA2270163785	SCN4A	c.3385C= (p.Arg1129=)
17	g.63947101G>T	CA501220230	SCN4A	c.3385C>A (p.Arg1129=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947102C>A	CA501220232	SCN4A	c.3384G>T (p.Leu1128=)
17	g.63947102C>G	CA501220234	SCN4A	c.3384G>C (p.Leu1128=)
17	g.63947102C>T	CA501220236	SCN4A	c.3384G>A (p.Leu1128=)
17	g.63947103A>C	CA400620470	SCN4A	c.3383T>G (p.Leu1128Arg)
17	g.63947103A>G	CA400620474	SCN4A	c.3383T>C (p.Leu1128Pro)	gnomAD v4
17	g.63947103A>T	CA400620476	SCN4A	c.3383T>A (p.Leu1128Gln)
17	g.63947104G>A	CA501220237	SCN4A	c.3382C>T (p.Leu1128=)
17	g.63947104G>C	CA400620480	SCN4A	c.3382C>G (p.Leu1128Val)
17	g.63947104G>T	CA400620482	SCN4A	c.3382C>A (p.Leu1128Met)
17	g.63947105G>A	CA501220239	SCN4A	c.3381C>T (p.Ser1127=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947105G>C	CA501220240	SCN4A	c.3381C>G (p.Ser1127=)
17	g.63947105G=	CA2270163786	SCN4A	c.3381C= (p.Ser1127=)
17	g.63947105G>T	CA501220238	SCN4A	c.3381C>A (p.Ser1127=)
17	g.63947106G>A	CA400620484	SCN4A	c.3380C>T (p.Ser1127Phe)	gnomAD v4
17	g.63947106G>C	CA400620487	SCN4A	c.3380C>G (p.Ser1127Cys)
17	g.63947106G>T	CA400620490	SCN4A	c.3380C>A (p.Ser1127Tyr)
17	g.63947107A>C	CA400620495	SCN4A	c.3379T>G (p.Ser1127Ala)
17	g.63947107A>G	CA400620498	SCN4A	c.3379T>C (p.Ser1127Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.63947107A>T	CA400620501	SCN4A	c.3379T>A (p.Ser1127Thr)	gnomAD v4
17	g.63947108T>A	CA400620506	SCN4A	c.3378A>T (p.Lys1126Asn)
17	g.63947108T>C	CA501220243	SCN4A	c.3378A>G (p.Lys1126=)
17	g.63947108T>G	CA400620508	SCN4A	c.3378A>C (p.Lys1126Asn)
17	g.63947110del	CA2576355668	SCN4A	c.3378del (p.Lys1126AsnfsTer12)
17	g.63947109T>A	CA400620513	SCN4A	c.3377A>T (p.Lys1126Ile)
17	g.63947109T>C	CA400620516	SCN4A	c.3377A>G (p.Lys1126Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63947109T>G	CA400620520	SCN4A	c.3377A>C (p.Lys1126Thr)
17	g.63947109T=	CA2270163787	SCN4A	c.3377A= (p.Lys1126=)
17	g.63947110T>A	CA400620523	SCN4A	c.3376A>T (p.Lys1126Ter)	dbSNP
17	g.63947110T>C	CA400620524	SCN4A	c.3376A>G (p.Lys1126Glu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947110T>G	CA400620527	SCN4A	c.3376A>C (p.Lys1126Gln)	gnomAD v4
17	g.63947110T=	CA2270163788	SCN4A	c.3376A= (p.Lys1126=)
17	g.63947111G>A	CA501220249	SCN4A	c.3375C>T (p.Ile1125=)
17	g.63947111G>C	CA400620530	SCN4A	c.3375C>G (p.Ile1125Met)
17	g.63947111G>T	CA501220250	SCN4A	c.3375C>A (p.Ile1125=)
17	g.63947112A=	CA2270163789	SCN4A	c.3374T= (p.Ile1125=)
17	g.63947112A>C	CA400620534	SCN4A	c.3374T>G (p.Ile1125Ser)	gnomAD v4
17	g.63947112A>G	CA400620537	SCN4A	c.3374T>C (p.Ile1125Thr)
17	g.63947112A>T	CA400620541	SCN4A	c.3374T>A (p.Ile1125Asn)	dbSNP
17	g.63947113del	CA2639315910	SCN4A	c.3373del (p.Ile1125SerfsTer13)	gnomAD v4
17	g.63947113T>A	CA400620544	SCN4A	c.3373A>T (p.Ile1125Phe)
17	g.63947113T>C	CA400620546	SCN4A	c.3373A>G (p.Ile1125Val)
17	g.63947113T>G	CA400620549	SCN4A	c.3373A>C (p.Ile1125Leu)	gnomAD v4
17	g.63947114G>A	CA501220251	SCN4A	c.3372C>T (p.Pro1124=)
17	g.63947114G>C	CA501220252	SCN4A	c.3372C>G (p.Pro1124=)
17	g.63947114G>T	CA501220253	SCN4A	c.3372C>A (p.Pro1124=)
17	g.63947115G>A	CA400620558	SCN4A	c.3371C>T (p.Pro1124Leu)
17	g.63947115G>C	CA400620552	SCN4A	c.3371C>G (p.Pro1124Arg)
17	g.63947115G=	CA2270163790	SCN4A	c.3371C= (p.Pro1124=)
17	g.63947115G>T	CA292962523	SCN4A	c.3371C>A (p.Pro1124His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947116G>A	CA400620562	SCN4A	c.3370C>T (p.Pro1124Ser)
17	g.63947116G>C	CA400620564	SCN4A	c.3370C>G (p.Pro1124Ala)
17	g.63947116G>T	CA400620567	SCN4A	c.3370C>A (p.Pro1124Thr)
17	g.63947117T>A	CA501220259	SCN4A	c.3369A>T (p.Gly1123=)
17	g.63947117T>C	CA501220261	SCN4A	c.3369A>G (p.Gly1123=)	gnomAD v4
17	g.63947117T>G	CA501220262	SCN4A	c.3369A>C (p.Gly1123=)
17	g.63947118C>A	CA400620572	SCN4A	c.3368G>T (p.Gly1123Val)
17	g.63947118C>G	CA400620573	SCN4A	c.3368G>C (p.Gly1123Ala)
17	g.63947118C>T	CA400620576	SCN4A	c.3368G>A (p.Gly1123Glu)	ClinVar
17	g.63947119C>A	CA400620580	SCN4A	c.3367G>T (p.Gly1123Ter)	dbSNP gnomAD v4
17	g.63947119C=	CA2270163791	SCN4A	c.3367G= (p.Gly1123=)
17	g.63947119C>G	CA292962525	SCN4A	c.3367G>C (p.Gly1123Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.63947119C>T	CA400620586	SCN4A	c.3367G>A (p.Gly1123Arg)	gnomAD v4
17	g.63947120C>A	CA501220266	SCN4A	c.3366G>T (p.Leu1122=)
17	g.63947120C>G	CA501220267	SCN4A	c.3366G>C (p.Leu1122=)
17	g.63947120C>T	CA501220268	SCN4A	c.3366G>A (p.Leu1122=)
17	g.63947121A>C	CA400620590	SCN4A	c.3365T>G (p.Leu1122Arg)	gnomAD v4
17	g.63947121A>G	CA400620593	SCN4A	c.3365T>C (p.Leu1122Pro)
17	g.63947121A>T	CA400620595	SCN4A	c.3365T>A (p.Leu1122Gln)
17	g.63947122G>A	CA501220272	SCN4A	c.3364C>T (p.Leu1122=)	gnomAD v4
17	g.63947122G>C	CA400620599	SCN4A	c.3364C>G (p.Leu1122Val)
17	g.63947122G>T	CA400620602	SCN4A	c.3364C>A (p.Leu1122Met)
17	g.63947123C>A	CA400620606	SCN4A	c.3363G>T (p.Glu1121Asp)
17	g.63947123C>G	CA400620609	SCN4A	c.3363G>C (p.Glu1121Asp)
17	g.63947123C>T	CA501220276	SCN4A	c.3363G>A (p.Glu1121=)
17	g.63947124T>A	CA400620613	SCN4A	c.3362A>T (p.Glu1121Val)
17	g.63947124T>C	CA400620619	SCN4A	c.3362A>G (p.Glu1121Gly)
17	g.63947124T>G	CA400620616	SCN4A	c.3362A>C (p.Glu1121Ala)
17	g.63947125C>A	CA400620623	SCN4A	c.3361G>T (p.Glu1121Ter)	dbSNP gnomAD v2
17	g.63947125C=	CA2270163792	SCN4A	c.3361G= (p.Glu1121=)
17	g.63947125C>G	CA400620626	SCN4A	c.3361G>C (p.Glu1121Gln)
17	g.63947125C>T	CA8709296	SCN4A	c.3361G>A (p.Glu1121Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947126C>A	CA501220280	SCN4A	c.3360G>T (p.Ser1120=)
17	g.63947126C=	CA2270163793	SCN4A	c.3360G= (p.Ser1120=)
17	g.63947126C>G	CA501220281	SCN4A	c.3360G>C (p.Ser1120=)	gnomAD v4
17	g.63947126C>T	CA8709297	SCN4A	c.3360G>A (p.Ser1120=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63947127G>A	CA400620634	SCN4A	c.3359C>T (p.Ser1120Leu)	ClinVar dbSNP gnomAD v4
17	g.63947127G>C	CA400620638	SCN4A	c.3359C>G (p.Ser1120Trp)
17	g.63947127G=	CA2270163794	SCN4A	c.3359C= (p.Ser1120=)
17	g.63947127G>T	CA400620641	SCN4A	c.3359C>A (p.Ser1120Ter)	dbSNP COSMIC
17	g.63947128A=	CA2270163795	SCN4A	c.3358T= (p.Ser1120=)
17	g.63947128A>C	CA400620645	SCN4A	c.3358T>G (p.Ser1120Ala)
17	g.63947128A>G	CA400620648	SCN4A	c.3358T>C (p.Ser1120Pro)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63947128A>T	CA400620651	SCN4A	c.3358T>A (p.Ser1120Thr)
17	g.63947129G>A	CA292962531	SCN4A	c.3357C>T (p.Tyr1119=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63947129G>C	CA400620655	SCN4A	c.3357C>G (p.Tyr1119Ter)
17	g.63947129G=	CA2270163796	SCN4A	c.3357C= (p.Tyr1119=)
17	g.63947129G>T	CA400620658	SCN4A	c.3357C>A (p.Tyr1119Ter)
17	g.63947130T>A	CA400620664	SCN4A	c.3356A>T (p.Tyr1119Phe)
17	g.63947130T>C	CA400620668	SCN4A	c.3356A>G (p.Tyr1119Cys)
17	g.63947130T>G	CA400620666	SCN4A	c.3356A>C (p.Tyr1119Ser)
17	g.63947131A>C	CA400620671	SCN4A	c.3355T>G (p.Tyr1119Asp)
17	g.63947131A>G	CA400620673	SCN4A	c.3355T>C (p.Tyr1119His)
17	g.63947131A>T	CA400620675	SCN4A	c.3355T>A (p.Tyr1119Asn)
17	g.63947132G>A	CA501220289	SCN4A	c.3354C>T (p.Gly1118=)
17	g.63947132G>C	CA501220290	SCN4A	c.3354C>G (p.Gly1118=)
17	g.63947132G>T	CA501220291	SCN4A	c.3354C>A (p.Gly1118=)
17	g.63947133C>A	CA400620678	SCN4A	c.3353G>T (p.Gly1118Val)
17	g.63947133C>G	CA400620680	SCN4A	c.3353G>C (p.Gly1118Ala)	gnomAD v4
17	g.63947133C>T	CA400620682	SCN4A	c.3353G>A (p.Gly1118Asp)
17	g.63947134C>A	CA292962534	SCN4A	c.3352G>T (p.Gly1118Cys)	dbSNP
17	g.63947134C=	CA2270163797	SCN4A	c.3352G= (p.Gly1118=)
17	g.63947134C>G	CA400620686	SCN4A	c.3352G>C (p.Gly1118Arg)
17	g.63947134C>T	CA400620689	SCN4A	c.3352G>A (p.Gly1118Ser)	ClinVar
17	g.63947135C>A	CA501220296	SCN4A	c.3351G>T (p.Leu1117=)
17	g.63947135C>G	CA501220298	SCN4A	c.3351G>C (p.Leu1117=)
17	g.63947135C>T	CA501220300	SCN4A	c.3351G>A (p.Leu1117=)
17	g.63947136A>C	CA400620694	SCN4A	c.3350T>G (p.Leu1117Arg)
17	g.63947136A>G	CA400620696	SCN4A	c.3350T>C (p.Leu1117Pro)
17	g.63947136A>T	CA400620693	SCN4A	c.3350T>A (p.Leu1117Gln)
17	g.63947137G>A	CA501220301	SCN4A	c.3349C>T (p.Leu1117=)	gnomAD v4
17	g.63947137G>C	CA400620699	SCN4A	c.3349C>G (p.Leu1117Val)
17	g.63947137G>T	CA400620701	SCN4A	c.3349C>A (p.Leu1117Met)
17	g.63947138C>A	CA400620704	SCN4A	c.3348G>T (p.Trp1116Cys)	dbSNP
17	g.63947138C=	CA2270163798	SCN4A	c.3348G= (p.Trp1116=)
17	g.63947138C>G	CA400620706	SCN4A	c.3348G>C (p.Trp1116Cys)
17	g.63947138C>T	CA400620709	SCN4A	c.3348G>A (p.Trp1116Ter)	dbSNP
17	g.63947139C>A	CA400620716	SCN4A	c.3347G>T (p.Trp1116Leu)
17	g.63947139C>G	CA400620711	SCN4A	c.3347G>C (p.Trp1116Ser)
17	g.63947139C>T	CA400620713	SCN4A	c.3347G>A (p.Trp1116Ter)	gnomAD v4
17	g.63947140A>C	CA400620719	SCN4A	c.3346T>G (p.Trp1116Gly)
17	g.63947140A>G	CA400620721	SCN4A	c.3346T>C (p.Trp1116Arg)
17	g.63947140A>T	CA400620723	SCN4A	c.3346T>A (p.Trp1116Arg)
17	g.63947141G>A	CA501220306	SCN4A	c.3345C>T (p.Asn1115=)	gnomAD v4
17	g.63947141G>C	CA400620726	SCN4A	c.3345C>G (p.Asn1115Lys)
17	g.63947141G>T	CA400620728	SCN4A	c.3345C>A (p.Asn1115Lys)	gnomAD v4
17	g.63947142T>A	CA400620730	SCN4A	c.3344A>T (p.Asn1115Ile)
17	g.63947142T>C	CA400620734	SCN4A	c.3344A>G (p.Asn1115Ser)
17	g.63947142T>G	CA400620732	SCN4A	c.3344A>C (p.Asn1115Thr)
17	g.63947143T>A	CA400620737	SCN4A	c.3343A>T (p.Asn1115Tyr)
17	g.63947143T>C	CA400620739	SCN4A	c.3343A>G (p.Asn1115Asp)
17	g.63947143T>G	CA400620741	SCN4A	c.3343A>C (p.Asn1115His)
17	g.63947144G>A	CA501220309	SCN4A	c.3342C>T (p.Ala1114=)
17	g.63947144G>C	CA501220312	SCN4A	c.3342C>G (p.Ala1114=)
17	g.63947144G>T	CA501220314	SCN4A	c.3342C>A (p.Ala1114=)
17	g.63947145G>A	CA400620744	SCN4A	c.3341C>T (p.Ala1114Val)	gnomAD v4
17	g.63947145G>C	CA400620746	SCN4A	c.3341C>G (p.Ala1114Gly)
17	g.63947145G>T	CA400620747	SCN4A	c.3341C>A (p.Ala1114Asp)
17	g.63947145_63947148delinsGCCA	CA2270163799	SCN4A	c.3338_3341delinsTGGC (p.Val1113=)
17	g.63947146C>A	CA400620750	SCN4A	c.3340G>T (p.Ala1114Ser)	ClinVar gnomAD v4
17	g.63947146C=	CA2270163800	SCN4A	c.3340G= (p.Ala1114=)
17	g.63947146C>G	CA400620752	SCN4A	c.3340G>C (p.Ala1114Pro)	gnomAD v4
17	g.63947146C>T	CA400620754	SCN4A	c.3340G>A (p.Ala1114Thr)	dbSNP gnomAD v2
17	g.63947149_63947151del	CA626861341	SCN4A	c.3338_3340del (p.Val1113del)	dbSNP gnomAD v2 gnomAD v4
17	g.63947147C>A	CA501220325	SCN4A	c.3339G>T (p.Val1113=)
17	g.63947147C>G	CA501220326	SCN4A	c.3339G>C (p.Val1113=)
17	g.63947147C>T	CA501220327	SCN4A	c.3339G>A (p.Val1113=)
17	g.63947148A=	CA2270163801	SCN4A	c.3338T= (p.Val1113=)
17	g.63947148A>C	CA400620758	SCN4A	c.3338T>G (p.Val1113Gly)
17	g.63947148A>G	CA400620760	SCN4A	c.3338T>C (p.Val1113Ala)
17	g.63947148A>T	CA400620761	SCN4A	c.3338T>A (p.Val1113Glu)	dbSNP
17	g.63947149C>A	CA400620766	SCN4A	c.3337G>T (p.Val1113Leu)
17	g.63947149C=	CA2270163802	SCN4A	c.3337G= (p.Val1113=)
17	g.63947149C>G	CA400620767	SCN4A	c.3337G>C (p.Val1113Leu)
17	g.63947149C>T	CA400620764	SCN4A	c.3337G>A (p.Val1113Met)	dbSNP gnomAD v4
17	g.63947150C>A	CA400620771	SCN4A	c.3336G>T (p.Leu1112Phe)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63947150C=	CA2270163803	SCN4A	c.3336G= (p.Leu1112=)
17	g.63947150C>G	CA8709298	SCN4A	c.3336G>C (p.Leu1112Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947150C>T	CA501220342	SCN4A	c.3336G>A (p.Leu1112=)
17	g.63947151A=	CA2270163804	SCN4A	c.3335T= (p.Leu1112=)
17	g.63947151A>C	CA400620774	SCN4A	c.3335T>G (p.Leu1112Trp)
17	g.63947151A>G	CA400620776	SCN4A	c.3335T>C (p.Leu1112Ser)
17	g.63947151A>T	CA400620778	SCN4A	c.3335T>A (p.Leu1112Ter)	dbSNP
17	g.63947152A>C	CA400620780	SCN4A	c.3334T>G (p.Leu1112Val)
17	g.63947152A>G	CA501220352	SCN4A	c.3334T>C (p.Leu1112=)
17	g.63947152A>T	CA400620782	SCN4A	c.3334T>A (p.Leu1112Met)
17	g.63947153G>A	CA501220356	SCN4A	c.3333C>T (p.Ser1111=)	gnomAD v4
17	g.63947153G>C	CA400620785	SCN4A	c.3333C>G (p.Ser1111Arg)
17	g.63947153G>T	CA400620786	SCN4A	c.3333C>A (p.Ser1111Arg)
17	g.63947154C>A	CA400620789	SCN4A	c.3332G>T (p.Ser1111Ile)
17	g.63947154C>G	CA400620791	SCN4A	c.3332G>C (p.Ser1111Thr)
17	g.63947154C>T	CA400620792	SCN4A	c.3332G>A (p.Ser1111Asn)	gnomAD v4
17	g.63947155T>A	CA400620795	SCN4A	c.3331A>T (p.Ser1111Cys)
17	g.63947155T>C	CA400620797	SCN4A	c.3331A>G (p.Ser1111Gly)
17	g.63947155T>G	CA400620800	SCN4A	c.3331A>C (p.Ser1111Arg)
17	g.63947156G>A	CA501220371	SCN4A	c.3330C>T (p.Ile1110=)
17	g.63947156G>C	CA400620803	SCN4A	c.3330C>G (p.Ile1110Met)
17	g.63947156G>T	CA501220373	SCN4A	c.3330C>A (p.Ile1110=)
17	g.63947157A=	CA2270163805	SCN4A	c.3329T= (p.Ile1110=)
17	g.63947157A>C	CA292962538	SCN4A	c.3329T>G (p.Ile1110Ser)	dbSNP
17	g.63947157A>G	CA400620807	SCN4A	c.3329T>C (p.Ile1110Thr)	gnomAD v4
17	g.63947157A>T	CA400620810	SCN4A	c.3329T>A (p.Ile1110Asn)
17	g.63947158T>A	CA400620813	SCN4A	c.3328A>T (p.Ile1110Phe)
17	g.63947158T>C	CA400620815	SCN4A	c.3328A>G (p.Ile1110Val)	ClinVar dbSNP gnomAD v2
17	g.63947158T>G	CA400620817	SCN4A	c.3328A>C (p.Ile1110Leu)
17	g.63947158T=	CA2270163806	SCN4A	c.3328A= (p.Ile1110=)
17	g.63947159G>A	CA501220383	SCN4A	c.3327C>T (p.Ile1109=)
17	g.63947159G>C	CA400620820	SCN4A	c.3327C>G (p.Ile1109Met)
17	g.63947159G>T	CA501220381	SCN4A	c.3327C>A (p.Ile1109=)
17	g.63947160A=	CA2270163807	SCN4A	c.3326T= (p.Ile1109=)
17	g.63947160A>C	CA400620823	SCN4A	c.3326T>G (p.Ile1109Ser)
17	g.63947160A>G	CA400620825	SCN4A	c.3326T>C (p.Ile1109Thr)	dbSNP
17	g.63947160A>T	CA400620827	SCN4A	c.3326T>A (p.Ile1109Asn)
17	g.63947161T>A	CA400620830	SCN4A	c.3325A>T (p.Ile1109Phe)	COSMIC
17	g.63947161T>C	CA400620832	SCN4A	c.3325A>G (p.Ile1109Val)	dbSNP gnomAD v3 gnomAD v4
17	g.63947161T>G	CA400620834	SCN4A	c.3325A>C (p.Ile1109Leu)	ClinVar dbSNP gnomAD v4
17	g.63947161T=	CA2270163808	SCN4A	c.3325A= (p.Ile1109=)
17	g.63947162G>A	CA501220393	SCN4A	c.3324C>T (p.Ser1108=)
17	g.63947162G>C	CA501220395	SCN4A	c.3324C>G (p.Ser1108=)
17	g.63947162G>T	CA501220398	SCN4A	c.3324C>A (p.Ser1108=)
17	g.63947163G>A	CA400620841	SCN4A	c.3323C>T (p.Ser1108Phe)
17	g.63947163G>C	CA292962541	SCN4A	c.3323C>G (p.Ser1108Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947163G=	CA2270163809	SCN4A	c.3323C= (p.Ser1108=)
17	g.63947163G>T	CA400620838	SCN4A	c.3323C>A (p.Ser1108Tyr)
17	g.63947164A=	CA2270163810	SCN4A	c.3322T= (p.Ser1108=)
17	g.63947164A>C	CA400620843	SCN4A	c.3322T>G (p.Ser1108Ala)
17	g.63947164A>G	CA400620848	SCN4A	c.3322T>C (p.Ser1108Pro)	gnomAD v4
17	g.63947164A>T	CA400620845	SCN4A	c.3322T>A (p.Ser1108Thr)	ClinVar dbSNP gnomAD v4
17	g.63947165G>A	CA501220402	SCN4A	c.3321C>T (p.Val1107=)
17	g.63947165G>C	CA501220403	SCN4A	c.3321C>G (p.Val1107=)
17	g.63947165G>T	CA501220404	SCN4A	c.3321C>A (p.Val1107=)
17	g.63947166A>C	CA400620851	SCN4A	c.3320T>G (p.Val1107Gly)
17	g.63947166A>G	CA400620852	SCN4A	c.3320T>C (p.Val1107Ala)
17	g.63947166A>T	CA400620855	SCN4A	c.3320T>A (p.Val1107Asp)
17	g.63947167C>A	CA400620857	SCN4A	c.3319G>T (p.Val1107Phe)
17	g.63947167C>G	CA400620859	SCN4A	c.3319G>C (p.Val1107Leu)
17	g.63947167C>T	CA400620861	SCN4A	c.3319G>A (p.Val1107Ile)
17	g.63947168C>A	CA400620864	SCN4A	c.3319-1G>T (n.3319-1G>T)
17	g.63947168C>G	CA400620866	SCN4A	c.3319-1G>C (n.3319-1G>C)	gnomAD v4
17	g.63947168C>T	CA400620868	SCN4A	c.3319-1G>A (n.3319-1G>A)
17	g.63947169T>A	CA400620870	SCN4A	c.3319-2A>T (n.3319-2A>T)
17	g.63947169T>C	CA400620873	SCN4A	c.3319-2A>G (n.3319-2A>G)
17	g.63947169T>G	CA400620876	SCN4A	c.3319-2A>C (n.3319-2A>C)	dbSNP
17	g.63947169T=	CA2270163811	SCN4A	c.3319-2A= (n.3319-2A=)
17	g.63947170G>T	CA2639316099	SCN4A	c.3319-3C>A (n.3319-3C>A)	gnomAD v4
17	g.63947171C>A	CA2639316109	SCN4A	c.3319-4G>T (n.3319-4G>T)	gnomAD v4
17	g.63947171C=	CA2270163812	SCN4A	c.3319-4G= (n.3319-4G=)
17	g.63947171C>T	CA626861342	SCN4A	c.3319-4G>A (n.3319-4G>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63947172del	CA2576355669	SCN4A	c.3319-5del (n.3319-5del)	gnomAD v4
17	g.63947174G>A	CA8709299	SCN4A	c.3319-7C>T (n.3319-7C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947174G=	CA2270163813	SCN4A	c.3319-7C= (n.3319-7C=)
17	g.63947175G>T	CA2639316124	SCN4A	c.3319-8C>A (n.3319-8C>A)	gnomAD v4
17	g.63947176G>A	CA774010219	SCN4A	c.3319-9C>T (n.3319-9C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63947176G>C	CA2639316132	SCN4A	c.3319-9C>G (n.3319-9C>G)	gnomAD v4
17	g.63947176G=	CA2270163814	SCN4A	c.3319-9C= (n.3319-9C=)
17	g.63947176G>T	CA8709300	SCN4A	c.3319-9C>A (n.3319-9C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947178G>A	CA292962547	SCN4A	c.3319-11C>T (n.3319-11C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947178G>C	CA2639316140	SCN4A	c.3319-11C>G (n.3319-11C>G)	gnomAD v4
17	g.63947178G=	CA2270163815	SCN4A	c.3319-11C= (n.3319-11C=)
17	g.63947179G>A	CA8709301	SCN4A	c.3319-12C>T (n.3319-12C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63947179G>C	CA2639316152	SCN4A	c.3319-12C>G (n.3319-12C>G)	gnomAD v4
17	g.63947179G=	CA2270163816	SCN4A	c.3319-12C= (n.3319-12C=)
17	g.63947180G>A	CA985430292	SCN4A	c.3319-13C>T (n.3319-13C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.63947180G>C	CA2733677288	SCN4A	c.3319-13C>G (n.3319-13C>G)	dbSNP
17	g.63947180G=	CA2270163817	SCN4A	c.3319-13C= (n.3319-13C=)
17	g.63947181G>A	CA2270163819	SCN4A	c.3319-14C>T (n.3319-14C>T)	dbSNP gnomAD v4
17	g.63947181G>C	CA626861343	SCN4A	c.3319-14C>G (n.3319-14C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63947181G=	CA2270163818	SCN4A	c.3319-14C= (n.3319-14C=)
17	g.63947181G>T	CA2639316161	SCN4A	c.3319-14C>A (n.3319-14C>A)	gnomAD v4
17	g.63947182T>G	CA292962551	SCN4A	c.3319-15A>C (n.3319-15A>C)	dbSNP gnomAD v3 gnomAD v4
17	g.63947182T=	CA2270163820	SCN4A	c.3319-15A= (n.3319-15A=)
17	g.63947183G>A	CA2639316168	SCN4A	c.3319-16C>T (n.3319-16C>T)	gnomAD v4
17	g.63947187G>A	CA2270163822	SCN4A	c.3319-20C>T (n.3319-20C>T)	dbSNP gnomAD v4
17	g.63947187G>C	CA2639316170	SCN4A	c.3319-20C>G (n.3319-20C>G)	gnomAD v4
17	g.63947187G=	CA2270163821	SCN4A	c.3319-20C= (n.3319-20C=)
17	g.63947187G>T	CA2639316171	SCN4A	c.3319-20C>A (n.3319-20C>A)	gnomAD v4
17	g.63947188G>C	CA2270163824	SCN4A	c.3319-21C>G (n.3319-21C>G)	dbSNP
17	g.63947188G=	CA2270163823	SCN4A	c.3319-21C= (n.3319-21C=)
17	g.63947189A>G	CA2733864541	SCN4A	c.3319-22T>C (n.3319-22T>C)	dbSNP
17	g.63947189A>T	CA2639316177	SCN4A	c.3319-22T>A (n.3319-22T>A)	gnomAD v4

Number of alleles fetched