Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941700_63941708del	CA2639307163	SCN4A	c.4576_4584del (p.Ile1526_Cys1528del)	gnomAD v4
17	g.63941699C>A	CA400615696	SCN4A	c.4583G>T (p.Cys1528Phe)
17	g.63941699C>G	CA400615697	SCN4A	c.4583G>C (p.Cys1528Ser)
17	g.63941699C>T	CA400615698	SCN4A	c.4583G>A (p.Cys1528Tyr)
17	g.63941700A>C	CA400615699	SCN4A	c.4582T>G (p.Cys1528Gly)	gnomAD v4
17	g.63941700A>G	CA400615700	SCN4A	c.4582T>C (p.Cys1528Arg)
17	g.63941700A>T	CA400615701	SCN4A	c.4582T>A (p.Cys1528Ser)
17	g.63941701G>A	CA501348379	SCN4A	c.4581C>T (p.Ile1527=)	dbSNP gnomAD v4
17	g.63941701G>C	CA400615702	SCN4A	c.4581C>G (p.Ile1527Met)
17	g.63941701G=	CA2270161063	SCN4A	c.4581C= (p.Ile1527=)
17	g.63941701G>T	CA8708941	SCN4A	c.4581C>A (p.Ile1527=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941702A=	CA2270161064	SCN4A	c.4580T= (p.Ile1527=)
17	g.63941702A>C	CA400615703	SCN4A	c.4580T>G (p.Ile1527Ser)
17	g.63941702A>G	CA400615704	SCN4A	c.4580T>C (p.Ile1527Thr)	dbSNP gnomAD v4
17	g.63941702A>T	CA400615705	SCN4A	c.4580T>A (p.Ile1527Asn)
17	g.63941703T>A	CA400615708	SCN4A	c.4579A>T (p.Ile1527Phe)
17	g.63941703T>C	CA400615707	SCN4A	c.4579A>G (p.Ile1527Val)
17	g.63941703T>G	CA400615706	SCN4A	c.4579A>C (p.Ile1527Leu)
17	g.63941704G>A	CA501348380	SCN4A	c.4578C>T (p.Ile1526=)
17	g.63941704G>C	CA400615709	SCN4A	c.4578C>G (p.Ile1526Met)
17	g.63941704G>T	CA501348381	SCN4A	c.4578C>A (p.Ile1526=)
17	g.63941705A>C	CA400615710	SCN4A	c.4577T>G (p.Ile1526Ser)
17	g.63941705A>G	CA400615712	SCN4A	c.4577T>C (p.Ile1526Thr)
17	g.63941705A>T	CA400615711	SCN4A	c.4577T>A (p.Ile1526Asn)
17	g.63941706T>A	CA400615713	SCN4A	c.4576A>T (p.Ile1526Phe)	gnomAD v4
17	g.63941706T>C	CA400615714	SCN4A	c.4576A>G (p.Ile1526Val)	dbSNP
17	g.63941706T>G	CA400615715	SCN4A	c.4576A>C (p.Ile1526Leu)
17	g.63941706T=	CA2270161065	SCN4A	c.4576A= (p.Ile1526=)
17	g.63941707G>A	CA501348382	SCN4A	c.4575C>T (p.Ser1525=)
17	g.63941707G>C	CA400615716	SCN4A	c.4575C>G (p.Ser1525Arg)
17	g.63941707G>T	CA400615717	SCN4A	c.4575C>A (p.Ser1525Arg)	COSMIC
17	g.63941708C>A	CA400615718	SCN4A	c.4574G>T (p.Ser1525Ile)
17	g.63941708C>G	CA400615719	SCN4A	c.4574G>C (p.Ser1525Thr)
17	g.63941708C>T	CA400615720	SCN4A	c.4574G>A (p.Ser1525Asn)
17	g.63941709T>A	CA400615721	SCN4A	c.4573A>T (p.Ser1525Cys)	ClinVar
17	g.63941709T>C	CA400615722	SCN4A	c.4573A>G (p.Ser1525Gly)
17	g.63941709T>G	CA400615723	SCN4A	c.4573A>C (p.Ser1525Arg)
17	g.63941710G>A	CA501348386	SCN4A	c.4572C>T (p.Asn1524=)
17	g.63941710G>C	CA400615725	SCN4A	c.4572C>G (p.Asn1524Lys)	gnomAD v4
17	g.63941710G>T	CA400615724	SCN4A	c.4572C>A (p.Asn1524Lys)
17	g.63941711T>A	CA400615726	SCN4A	c.4571A>T (p.Asn1524Ile)
17	g.63941711T>C	CA8708942	SCN4A	c.4571A>G (p.Asn1524Ser)	dbSNP ExAC
17	g.63941711T>G	CA400615727	SCN4A	c.4571A>C (p.Asn1524Thr)
17	g.63941711T=	CA2270161066	SCN4A	c.4571A= (p.Asn1524=)
17	g.63941712T>A	CA400615728	SCN4A	c.4570A>T (p.Asn1524Tyr)
17	g.63941712T>C	CA400615729	SCN4A	c.4570A>G (p.Asn1524Asp)
17	g.63941712T>G	CA400615730	SCN4A	c.4570A>C (p.Asn1524His)
17	g.63941713G>A	CA501348390	SCN4A	c.4569C>T (p.Gly1523=)
17	g.63941713G>C	CA501348391	SCN4A	c.4569C>G (p.Gly1523=)
17	g.63941713G=	CA2270161067	SCN4A	c.4569C= (p.Gly1523=)
17	g.63941713G>T	CA501348393	SCN4A	c.4569C>A (p.Gly1523=)	dbSNP
17	g.63941714C>A	CA400615731	SCN4A	c.4568G>T (p.Gly1523Val)
17	g.63941714C=	CA2270161068	SCN4A	c.4568G= (p.Gly1523=)
17	g.63941714C>G	CA400615732	SCN4A	c.4568G>C (p.Gly1523Ala)	dbSNP
17	g.63941714C>T	CA400615733	SCN4A	c.4568G>A (p.Gly1523Asp)	ClinVar dbSNP gnomAD v4
17	g.63941715C>A	CA400615734	SCN4A	c.4567G>T (p.Gly1523Cys)
17	g.63941715C=	CA2270161069	SCN4A	c.4567G= (p.Gly1523=)
17	g.63941715C>G	CA400615735	SCN4A	c.4567G>C (p.Gly1523Arg)
17	g.63941715C>T	CA8708943	SCN4A	c.4567G>A (p.Gly1523Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941716G>A	CA8708944	SCN4A	c.4566C>T (p.Phe1522=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941716G>C	CA400615737	SCN4A	c.4566C>G (p.Phe1522Leu)
17	g.63941716G=	CA2270161070	SCN4A	c.4566C= (p.Phe1522=)
17	g.63941716G>T	CA400615736	SCN4A	c.4566C>A (p.Phe1522Leu)
17	g.63941717A>C	CA400615738	SCN4A	c.4565T>G (p.Phe1522Cys)
17	g.63941717A>G	CA400615739	SCN4A	c.4565T>C (p.Phe1522Ser)
17	g.63941717A>T	CA400615740	SCN4A	c.4565T>A (p.Phe1522Tyr)
17	g.63941718A=	CA2270161071	SCN4A	c.4564T= (p.Phe1522=)
17	g.63941718A>C	CA400615741	SCN4A	c.4564T>G (p.Phe1522Val)	ClinVar dbSNP
17	g.63941718A>G	CA400615742	SCN4A	c.4564T>C (p.Phe1522Leu)
17	g.63941718A>T	CA400615743	SCN4A	c.4564T>A (p.Phe1522Ile)
17	g.63941719G>A	CA501348398	SCN4A	c.4563C>T (p.Thr1521=)	gnomAD v3 gnomAD v4
17	g.63941719G>C	CA501348399	SCN4A	c.4563C>G (p.Thr1521=)	ClinVar gnomAD v4
17	g.63941719G>T	CA501348397	SCN4A	c.4563C>A (p.Thr1521=)
17	g.63941720G>A	CA400615745	SCN4A	c.4562C>T (p.Thr1521Ile)	gnomAD v4
17	g.63941720G>C	CA400615744	SCN4A	c.4562C>G (p.Thr1521Ser)	gnomAD v4
17	g.63941720G=	CA2270161072	SCN4A	c.4562C= (p.Thr1521=)
17	g.63941720G>T	CA8708945	SCN4A	c.4562C>A (p.Thr1521Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941721T>A	CA400615746	SCN4A	c.4561A>T (p.Thr1521Ser)
17	g.63941721T>C	CA400615747	SCN4A	c.4561A>G (p.Thr1521Ala)
17	g.63941721T>G	CA400615748	SCN4A	c.4561A>C (p.Thr1521Pro)
17	g.63941722C>A	CA400615749	SCN4A	c.4560G>T (p.Glu1520Asp)
17	g.63941722C>G	CA400615750	SCN4A	c.4560G>C (p.Glu1520Asp)
17	g.63941722C>T	CA501348401	SCN4A	c.4560G>A (p.Glu1520=)
17	g.63941723T>A	CA400615751	SCN4A	c.4559A>T (p.Glu1520Val)
17	g.63941723T>C	CA400615753	SCN4A	c.4559A>G (p.Glu1520Gly)
17	g.63941723T>G	CA400615752	SCN4A	c.4559A>C (p.Glu1520Ala)
17	g.63941724C>A	CA400615754	SCN4A	c.4558G>T (p.Glu1520Ter)	dbSNP
17	g.63941724C=	CA2270161073	SCN4A	c.4558G= (p.Glu1520=)
17	g.63941724C>G	CA400615755	SCN4A	c.4558G>C (p.Glu1520Gln)
17	g.63941724C>T	CA292957070	SCN4A	c.4558G>A (p.Glu1520Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941725G>A	CA292957078	SCN4A	c.4557C>T (p.Phe1519=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
17	g.63941725G>C	CA400615756	SCN4A	c.4557C>G (p.Phe1519Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941725G=	CA2270161074	SCN4A	c.4557C= (p.Phe1519=)
17	g.63941725G>T	CA400615757	SCN4A	c.4557C>A (p.Phe1519Leu)	ClinVar dbSNP
17	g.63941726A>C	CA400615758	SCN4A	c.4556T>G (p.Phe1519Cys)
17	g.63941726A>G	CA400615759	SCN4A	c.4556T>C (p.Phe1519Ser)	gnomAD v4
17	g.63941726A>T	CA400615760	SCN4A	c.4556T>A (p.Phe1519Tyr)
17	g.63941727A>C	CA400615761	SCN4A	c.4555T>G (p.Phe1519Val)
17	g.63941727A>G	CA400615762	SCN4A	c.4555T>C (p.Phe1519Leu)
17	g.63941727A>T	CA400615763	SCN4A	c.4555T>A (p.Phe1519Ile)	ClinVar
17	g.63941728G>A	CA501348191	SCN4A	c.4554C>T (p.Asn1518=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941728G>C	CA400615764	SCN4A	c.4554C>G (p.Asn1518Lys)
17	g.63941728G=	CA2270161075	SCN4A	c.4554C= (p.Asn1518=)
17	g.63941728G>T	CA400615765	SCN4A	c.4554C>A (p.Asn1518Lys)
17	g.63941729T>A	CA400615767	SCN4A	c.4553A>T (p.Asn1518Ile)
17	g.63941729T>C	CA400615768	SCN4A	c.4553A>G (p.Asn1518Ser)	gnomAD v4
17	g.63941729T>G	CA400615766	SCN4A	c.4553A>C (p.Asn1518Thr)
17	g.63941730T>A	CA400615769	SCN4A	c.4552A>T (p.Asn1518Tyr)
17	g.63941730T>C	CA400615771	SCN4A	c.4552A>G (p.Asn1518Asp)
17	g.63941730T>G	CA400615770	SCN4A	c.4552A>C (p.Asn1518His)
17	g.63941731G>A	CA501348195	SCN4A	c.4551C>T (p.Phe1517=)
17	g.63941731G>C	CA400615772	SCN4A	c.4551C>G (p.Phe1517Leu)
17	g.63941731G=	CA2270161076	SCN4A	c.4551C= (p.Phe1517=)
17	g.63941731G>T	CA400615773	SCN4A	c.4551C>A (p.Phe1517Leu)
17	g.63941732A=	CA2270161077	SCN4A	c.4550T= (p.Phe1517=)
17	g.63941732A>C	CA400615774	SCN4A	c.4550T>G (p.Phe1517Cys)
17	g.63941732A>G	CA400615775	SCN4A	c.4550T>C (p.Phe1517Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.63941732A>T	CA400615776	SCN4A	c.4550T>A (p.Phe1517Tyr)
17	g.63941733dup	CA627150331	SCN4A	c.4550dup (p.Asn1518GlnfsTer?)	dbSNP gnomAD v2 gnomAD v4
17	g.63941733A=	CA2270161078	SCN4A	c.4549T= (p.Phe1517=)
17	g.63941733A>C	CA400615777	SCN4A	c.4549T>G (p.Phe1517Val)
17	g.63941733A>G	CA400615778	SCN4A	c.4549T>C (p.Phe1517Leu)	COSMIC
17	g.63941733A>T	CA400615779	SCN4A	c.4549T>A (p.Phe1517Ile)	dbSNP
17	g.63941734C>A	CA400615780	SCN4A	c.4548G>T (p.Met1516Ile)
17	g.63941734C>G	CA400615781	SCN4A	c.4548G>C (p.Met1516Ile)	gnomAD v3 gnomAD v4
17	g.63941734C>T	CA400615782	SCN4A	c.4548G>A (p.Met1516Ile)	gnomAD v4
17	g.63941735A=	CA2270161079	SCN4A	c.4547T= (p.Met1516=)
17	g.63941735A>C	CA400615783	SCN4A	c.4547T>G (p.Met1516Arg)
17	g.63941735A>G	CA8708946	SCN4A	c.4547T>C (p.Met1516Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941735A>T	CA400615784	SCN4A	c.4547T>A (p.Met1516Lys)
17	g.63941736T>A	CA400615785	SCN4A	c.4546A>T (p.Met1516Leu)
17	g.63941736T>C	CA400615787	SCN4A	c.4546A>G (p.Met1516Val)	gnomAD v4
17	g.63941736T>G	CA400615786	SCN4A	c.4546A>C (p.Met1516Leu)
17	g.63941737A=	CA2270161080	SCN4A	c.4545T= (p.Asp1515=)
17	g.63941737A>C	CA400615788	SCN4A	c.4545T>G (p.Asp1515Glu)
17	g.63941737A>G	CA292957085	SCN4A	c.4545T>C (p.Asp1515=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941737A>T	CA400615789	SCN4A	c.4545T>A (p.Asp1515Glu)
17	g.63941738T>A	CA400615790	SCN4A	c.4544A>T (p.Asp1515Val)	gnomAD v4
17	g.63941738T>C	CA400615791	SCN4A	c.4544A>G (p.Asp1515Gly)	ClinVar
17	g.63941738T>G	CA400615792	SCN4A	c.4544A>C (p.Asp1515Ala)
17	g.63941739C>A	CA400615793	SCN4A	c.4543G>T (p.Asp1515Tyr)
17	g.63941739C=	CA2270161081	SCN4A	c.4543G= (p.Asp1515=)
17	g.63941739C>G	CA400615794	SCN4A	c.4543G>C (p.Asp1515His)
17	g.63941739C>T	CA292957086	SCN4A	c.4543G>A (p.Asp1515Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941740A>C	CA400615795	SCN4A	c.4542T>G (p.Asp1514Glu)	gnomAD v4
17	g.63941740A>G	CA501348200	SCN4A	c.4542T>C (p.Asp1514=)	gnomAD v4
17	g.63941740A>T	CA400615796	SCN4A	c.4542T>A (p.Asp1514Glu)
17	g.63941741T>A	CA400615798	SCN4A	c.4541A>T (p.Asp1514Val)
17	g.63941741T>C	CA400615799	SCN4A	c.4541A>G (p.Asp1514Gly)
17	g.63941741T>G	CA400615797	SCN4A	c.4541A>C (p.Asp1514Ala)	ClinVar
17	g.63941742C>A	CA400615800	SCN4A	c.4540G>T (p.Asp1514Tyr)
17	g.63941742C=	CA2270161082	SCN4A	c.4540G= (p.Asp1514=)
17	g.63941742C>G	CA8708947	SCN4A	c.4540G>C (p.Asp1514His)	dbSNP ExAC
17	g.63941742C>T	CA292957087	SCN4A	c.4540G>A (p.Asp1514Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941743G>A	CA292957099	SCN4A	c.4539C>T (p.Ile1513=)	ClinVar dbSNP gnomAD v4
17	g.63941743G>C	CA292957092	SCN4A	c.4539C>G (p.Ile1513Met)	dbSNP
17	g.63941743G=	CA2270161083	SCN4A	c.4539C= (p.Ile1513=)
17	g.63941743G>T	CA146049	SCN4A	c.4539C>A (p.Ile1513=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941744A=	CA2270161084	SCN4A	c.4538T= (p.Ile1513=)
17	g.63941744A>C	CA400615801	SCN4A	c.4538T>G (p.Ile1513Ser)
17	g.63941744A>G	CA400615802	SCN4A	c.4538T>C (p.Ile1513Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941744A>T	CA400615803	SCN4A	c.4538T>A (p.Ile1513Asn)
17	g.63941745T>A	CA400615804	SCN4A	c.4537A>T (p.Ile1513Phe)
17	g.63941745T>C	CA400615805	SCN4A	c.4537A>G (p.Ile1513Val)	gnomAD v4
17	g.63941745T>G	CA400615806	SCN4A	c.4537A>C (p.Ile1513Leu)
17	g.63941746G>A	CA501348201	SCN4A	c.4536C>T (p.Gly1512=)
17	g.63941746G>C	CA501348203	SCN4A	c.4536C>G (p.Gly1512=)
17	g.63941746G>T	CA501348204	SCN4A	c.4536C>A (p.Gly1512=)
17	g.63941747C>A	CA400615809	SCN4A	c.4535G>T (p.Gly1512Val)
17	g.63941747C>G	CA400615807	SCN4A	c.4535G>C (p.Gly1512Ala)
17	g.63941747C>T	CA400615808	SCN4A	c.4535G>A (p.Gly1512Asp)	COSMIC
17	g.63941748C>A	CA400615810	SCN4A	c.4534G>T (p.Gly1512Cys)
17	g.63941748C=	CA2270161085	SCN4A	c.4534G= (p.Gly1512=)
17	g.63941748C>G	CA400615811	SCN4A	c.4534G>C (p.Gly1512Arg)
17	g.63941748C>T	CA400615812	SCN4A	c.4534G>A (p.Gly1512Ser)	dbSNP
17	g.63941749C>A	CA501348205	SCN4A	c.4533G>T (p.Ser1511=)
17	g.63941749C=	CA2270161086	SCN4A	c.4533G= (p.Ser1511=)
17	g.63941749C>G	CA501348206	SCN4A	c.4533G>C (p.Ser1511=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941749C>T	CA8708948	SCN4A	c.4533G>A (p.Ser1511=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941750G>A	CA8708949	SCN4A	c.4532C>T (p.Ser1511Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941750G>C	CA400615813	SCN4A	c.4532C>G (p.Ser1511Trp)
17	g.63941750G=	CA2270161087	SCN4A	c.4532C= (p.Ser1511=)
17	g.63941750G>T	CA400615814	SCN4A	c.4532C>A (p.Ser1511Ter)	dbSNP
17	g.63941751A=	CA2270161088	SCN4A	c.4531T= (p.Ser1511=)
17	g.63941751A>C	CA400615815	SCN4A	c.4531T>G (p.Ser1511Ala)	dbSNP gnomAD v3 gnomAD v4
17	g.63941751A>G	CA400615816	SCN4A	c.4531T>C (p.Ser1511Pro)
17	g.63941751A>T	CA400615817	SCN4A	c.4531T>A (p.Ser1511Thr)
17	g.63941752C>A	CA400615818	SCN4A	c.4530G>T (p.Glu1510Asp)
17	g.63941752C>G	CA400615819	SCN4A	c.4530G>C (p.Glu1510Asp)
17	g.63941752C>T	CA501348207	SCN4A	c.4530G>A (p.Glu1510=)	gnomAD v4
17	g.63941753T>A	CA400615822	SCN4A	c.4529A>T (p.Glu1510Val)
17	g.63941753T>C	CA400615821	SCN4A	c.4529A>G (p.Glu1510Gly)
17	g.63941753T>G	CA400615820	SCN4A	c.4529A>C (p.Glu1510Ala)
17	g.63941754C>A	CA400615823	SCN4A	c.4528G>T (p.Glu1510Ter)	dbSNP
17	g.63941754C=	CA2270161089	SCN4A	c.4528G= (p.Glu1510=)
17	g.63941754C>G	CA400615825	SCN4A	c.4528G>C (p.Glu1510Gln)
17	g.63941754C>T	CA400615824	SCN4A	c.4528G>A (p.Glu1510Lys)
17	g.63941755C>A	CA400615826	SCN4A	c.4527G>T (p.Lys1509Asn)
17	g.63941755C=	CA2270161090	SCN4A	c.4527G= (p.Lys1509=)
17	g.63941755C>G	CA400615827	SCN4A	c.4527G>C (p.Lys1509Asn)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941755C>T	CA501348208	SCN4A	c.4527G>A (p.Lys1509=)
17	g.63941758_63941760del	CA2639307246	SCN4A	c.4525_4527del (p.Lys1509del)	gnomAD v4
17	g.63941756T>A	CA400615828	SCN4A	c.4526A>T (p.Lys1509Met)
17	g.63941756T>C	CA400615829	SCN4A	c.4526A>G (p.Lys1509Arg)
17	g.63941756T>G	CA400615830	SCN4A	c.4526A>C (p.Lys1509Thr)
17	g.63941757T>A	CA400615831	SCN4A	c.4525A>T (p.Lys1509Ter)	dbSNP
17	g.63941757T>C	CA400615832	SCN4A	c.4525A>G (p.Lys1509Glu)
17	g.63941757T>G	CA400615833	SCN4A	c.4525A>C (p.Lys1509Gln)
17	g.63941757T=	CA2270161091	SCN4A	c.4525A= (p.Lys1509=)
17	g.63941758C>A	CA400615834	SCN4A	c.4524G>T (p.Lys1508Asn)
17	g.63941758C=	CA2270161092	SCN4A	c.4524G= (p.Lys1508=)
17	g.63941758C>G	CA292957112	SCN4A	c.4524G>C (p.Lys1508Asn)	dbSNP gnomAD v4
17	g.63941758C>T	CA292957113	SCN4A	c.4524G>A (p.Lys1508=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941759T>A	CA400615837	SCN4A	c.4523A>T (p.Lys1508Met)
17	g.63941759T>C	CA400615836	SCN4A	c.4523A>G (p.Lys1508Arg)	dbSNP gnomAD v4
17	g.63941759T>G	CA400615835	SCN4A	c.4523A>C (p.Lys1508Thr)
17	g.63941759T=	CA2270161093	SCN4A	c.4523A= (p.Lys1508=)
17	g.63941760T>A	CA400615838	SCN4A	c.4522A>T (p.Lys1508Ter)	dbSNP
17	g.63941760T>C	CA400615839	SCN4A	c.4522A>G (p.Lys1508Glu)	ClinVar dbSNP
17	g.63941760T>G	CA400615840	SCN4A	c.4522A>C (p.Lys1508Gln)
17	g.63941760T=	CA2270161094	SCN4A	c.4522A= (p.Lys1508=)
17	g.63941761G>A	CA501348216	SCN4A	c.4521C>T (p.Val1507=)
17	g.63941761G>C	CA501348214	SCN4A	c.4521C>G (p.Val1507=)
17	g.63941761G>T	CA501348212	SCN4A	c.4521C>A (p.Val1507=)
17	g.63941762A>C	CA400615841	SCN4A	c.4520T>G (p.Val1507Gly)
17	g.63941762A>G	CA400615842	SCN4A	c.4520T>C (p.Val1507Ala)
17	g.63941762A>T	CA400615843	SCN4A	c.4520T>A (p.Val1507Asp)
17	g.63941763C>A	CA400615844	SCN4A	c.4519G>T (p.Val1507Phe)
17	g.63941763C=	CA2270161095	SCN4A	c.4519G= (p.Val1507=)
17	g.63941763C>G	CA400615845	SCN4A	c.4519G>C (p.Val1507Leu)
17	g.63941763C>T	CA8708950	SCN4A	c.4519G>A (p.Val1507Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941764G>A	CA8708951	SCN4A	c.4518C>T (p.Tyr1506=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941764G>C	CA400615846	SCN4A	c.4518C>G (p.Tyr1506Ter)
17	g.63941764G=	CA2270161096	SCN4A	c.4518C= (p.Tyr1506=)
17	g.63941764G>T	CA400615847	SCN4A	c.4518C>A (p.Tyr1506Ter)	dbSNP
17	g.63941765T>A	CA8708952	SCN4A	c.4517A>T (p.Tyr1506Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941765T>C	CA400615849	SCN4A	c.4517A>G (p.Tyr1506Cys)	dbSNP gnomAD v4
17	g.63941765T>G	CA400615848	SCN4A	c.4517A>C (p.Tyr1506Ser)
17	g.63941765T=	CA2270161097	SCN4A	c.4517A= (p.Tyr1506=)
17	g.63941766A>C	CA400615850	SCN4A	c.4516T>G (p.Tyr1506Asp)
17	g.63941766A>G	CA400615851	SCN4A	c.4516T>C (p.Tyr1506His)	ClinVar
17	g.63941766A>T	CA400615852	SCN4A	c.4516T>A (p.Tyr1506Asn)
17	g.63941767G>A	CA501348217	SCN4A	c.4515C>T (p.Ala1505=)
17	g.63941767G>C	CA501348219	SCN4A	c.4515C>G (p.Ala1505=)	gnomAD v4
17	g.63941767G>T	CA501348218	SCN4A	c.4515C>A (p.Ala1505=)
17	g.63941768G>A	CA400615853	SCN4A	c.4514C>T (p.Ala1505Val)	gnomAD v4
17	g.63941768G>C	CA400615854	SCN4A	c.4514C>G (p.Ala1505Gly)
17	g.63941768G>T	CA400615855	SCN4A	c.4514C>A (p.Ala1505Asp)
17	g.63941769C>A	CA400615858	SCN4A	c.4513G>T (p.Ala1505Ser)
17	g.63941769C>G	CA400615856	SCN4A	c.4513G>C (p.Ala1505Pro)
17	g.63941769C>T	CA400615857	SCN4A	c.4513G>A (p.Ala1505Thr)
17	g.63941770A=	CA2270161098	SCN4A	c.4512T= (p.Phe1504=)
17	g.63941770A>C	CA400615859	SCN4A	c.4512T>G (p.Phe1504Leu)
17	g.63941770A>G	CA501348220	SCN4A	c.4512T>C (p.Phe1504=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941770A>T	CA400615860	SCN4A	c.4512T>A (p.Phe1504Leu)
17	g.63941771A>C	CA400615861	SCN4A	c.4511T>G (p.Phe1504Cys)
17	g.63941771A>G	CA400615862	SCN4A	c.4511T>C (p.Phe1504Ser)
17	g.63941771A>T	CA400615863	SCN4A	c.4511T>A (p.Phe1504Tyr)
17	g.63941772A>C	CA400615864	SCN4A	c.4510T>G (p.Phe1504Val)
17	g.63941772A>G	CA400615866	SCN4A	c.4510T>C (p.Phe1504Leu)
17	g.63941772A>T	CA400615865	SCN4A	c.4510T>A (p.Phe1504Ile)
17	g.63941773G>A	CA501348223	SCN4A	c.4509C>T (p.Asn1503=)	gnomAD v4
17	g.63941773G>C	CA400615867	SCN4A	c.4509C>G (p.Asn1503Lys)
17	g.63941773G>T	CA400615868	SCN4A	c.4509C>A (p.Asn1503Lys)
17	g.63941774T>A	CA400615869	SCN4A	c.4508A>T (p.Asn1503Ile)
17	g.63941774T>C	CA8708953	SCN4A	c.4508A>G (p.Asn1503Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941774T>G	CA400615870	SCN4A	c.4508A>C (p.Asn1503Thr)
17	g.63941774T=	CA2270161099	SCN4A	c.4508A= (p.Asn1503=)
17	g.63941775T>A	CA400615871	SCN4A	c.4507A>T (p.Asn1503Tyr)
17	g.63941775T>C	CA400615872	SCN4A	c.4507A>G (p.Asn1503Asp)	ClinVar
17	g.63941775T>G	CA400615873	SCN4A	c.4507A>C (p.Asn1503His)
17	g.63941776G>A	CA501348225	SCN4A	c.4506C>T (p.Ser1502=)
17	g.63941776G>C	CA501348226	SCN4A	c.4506C>G (p.Ser1502=)
17	g.63941776G>T	CA501348227	SCN4A	c.4506C>A (p.Ser1502=)
17	g.63941777G>A	CA400615874	SCN4A	c.4505C>T (p.Ser1502Phe)	gnomAD v4
17	g.63941777G>C	CA400615875	SCN4A	c.4505C>G (p.Ser1502Cys)
17	g.63941777G>T	CA400615876	SCN4A	c.4505C>A (p.Ser1502Tyr)
17	g.63941778A>C	CA400615879	SCN4A	c.4504T>G (p.Ser1502Ala)	gnomAD v4
17	g.63941778A>G	CA400615878	SCN4A	c.4504T>C (p.Ser1502Pro)
17	g.63941778A>T	CA400615877	SCN4A	c.4504T>A (p.Ser1502Thr)
17	g.63941779C>A	CA400615880	SCN4A	c.4503G>T (p.Met1501Ile)
17	g.63941779C=	CA2270161100	SCN4A	c.4503G= (p.Met1501=)
17	g.63941779C>G	CA400615882	SCN4A	c.4503G>C (p.Met1501Ile)	gnomAD v4
17	g.63941779C>T	CA400615881	SCN4A	c.4503G>A (p.Met1501Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941780A>C	CA400615883	SCN4A	c.4502T>G (p.Met1501Arg)
17	g.63941780A>G	CA400615885	SCN4A	c.4502T>C (p.Met1501Thr)
17	g.63941780A>T	CA400615884	SCN4A	c.4502T>A (p.Met1501Lys)
17	g.63941781T>A	CA400615886	SCN4A	c.4501A>T (p.Met1501Leu)
17	g.63941781T>C	CA400615888	SCN4A	c.4501A>G (p.Met1501Val)	ClinVar gnomAD v4
17	g.63941781T>G	CA400615887	SCN4A	c.4501A>C (p.Met1501Leu)
17	g.63941782G>A	CA501348232	SCN4A	c.4500C>T (p.Gly1500=)	gnomAD v4
17	g.63941782G>C	CA501348233	SCN4A	c.4500C>G (p.Gly1500=)
17	g.63941782G>T	CA501348231	SCN4A	c.4500C>A (p.Gly1500=)
17	g.63941783C>A	CA400615889	SCN4A	c.4499G>T (p.Gly1500Val)
17	g.63941783C>G	CA400615890	SCN4A	c.4499G>C (p.Gly1500Ala)
17	g.63941783C>T	CA400615891	SCN4A	c.4499G>A (p.Gly1500Asp)
17	g.63941784C>A	CA400615892	SCN4A	c.4498G>T (p.Gly1500Cys)
17	g.63941784C=	CA2270161101	SCN4A	c.4498G= (p.Gly1500=)
17	g.63941784C>G	CA400615893	SCN4A	c.4498G>C (p.Gly1500Arg)
17	g.63941784C>T	CA400615894	SCN4A	c.4498G>A (p.Gly1500Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941785G>A	CA292957134	SCN4A	c.4497C>T (p.Phe1499=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941785G>C	CA400615895	SCN4A	c.4497C>G (p.Phe1499Leu)
17	g.63941785G=	CA2270161102	SCN4A	c.4497C= (p.Phe1499=)
17	g.63941785G>T	CA400615896	SCN4A	c.4497C>A (p.Phe1499Leu)
17	g.63941786A>C	CA400615897	SCN4A	c.4496T>G (p.Phe1499Cys)
17	g.63941786A>G	CA400615898	SCN4A	c.4496T>C (p.Phe1499Ser)
17	g.63941786A>T	CA400615899	SCN4A	c.4496T>A (p.Phe1499Tyr)
17	g.63941787A>C	CA400615902	SCN4A	c.4495T>G (p.Phe1499Val)
17	g.63941787A>G	CA400615900	SCN4A	c.4495T>C (p.Phe1499Leu)	dbSNP
17	g.63941787A>T	CA400615901	SCN4A	c.4495T>A (p.Phe1499Ile)
17	g.63941788G>A	CA501348240	SCN4A	c.4494C>T (p.Ile1498=)	gnomAD v4
17	g.63941788G>C	CA400615903	SCN4A	c.4494C>G (p.Ile1498Met)
17	g.63941788G>T	CA501348241	SCN4A	c.4494C>A (p.Ile1498=)
17	g.63941789A>C	CA400615904	SCN4A	c.4493T>G (p.Ile1498Ser)
17	g.63941789A>G	CA400615905	SCN4A	c.4493T>C (p.Ile1498Thr)
17	g.63941789A>T	CA400615906	SCN4A	c.4493T>A (p.Ile1498Asn)
17	g.63941790T>A	CA400615907	SCN4A	c.4492A>T (p.Ile1498Phe)	dbSNP
17	g.63941790T>C	CA400615908	SCN4A	c.4492A>G (p.Ile1498Val)	gnomAD v4
17	g.63941790T>G	CA400615909	SCN4A	c.4492A>C (p.Ile1498Leu)
17	g.63941790T=	CA2270161103	SCN4A	c.4492A= (p.Ile1498=)
17	g.63941791G>A	CA501348244	SCN4A	c.4491C>T (p.Ser1497=)
17	g.63941791G>C	CA501348245	SCN4A	c.4491C>G (p.Ser1497=)
17	g.63941791G>T	CA501348246	SCN4A	c.4491C>A (p.Ser1497=)
17	g.63941792G>A	CA400615910	SCN4A	c.4490C>T (p.Ser1497Phe)
17	g.63941792G>C	CA400615911	SCN4A	c.4490C>G (p.Ser1497Cys)
17	g.63941792G>T	CA400615912	SCN4A	c.4490C>A (p.Ser1497Tyr)	ClinVar dbSNP
17	g.63941793A=	CA2270161104	SCN4A	c.4489T= (p.Ser1497=)
17	g.63941793A>C	CA400615915	SCN4A	c.4489T>G (p.Ser1497Ala)
17	g.63941793A>G	CA400615914	SCN4A	c.4489T>C (p.Ser1497Pro)	dbSNP
17	g.63941793A>T	CA400615913	SCN4A	c.4489T>A (p.Ser1497Thr)
17	g.63941794G>A	CA501348248	SCN4A	c.4488C>T (p.Tyr1496=)	ClinVar dbSNP
17	g.63941794G>C	CA400615916	SCN4A	c.4488C>G (p.Tyr1496Ter)
17	g.63941794G>T	CA400615917	SCN4A	c.4488C>A (p.Tyr1496Ter)	gnomAD v4
17	g.63941795T>A	CA400615918	SCN4A	c.4487A>T (p.Tyr1496Phe)
17	g.63941795T>C	CA400615919	SCN4A	c.4487A>G (p.Tyr1496Cys)	gnomAD v4
17	g.63941795T>G	CA400615920	SCN4A	c.4487A>C (p.Tyr1496Ser)
17	g.63941796A>C	CA400615921	SCN4A	c.4486T>G (p.Tyr1496Asp)
17	g.63941796A>G	CA400615922	SCN4A	c.4486T>C (p.Tyr1496His)
17	g.63941796A>T	CA400615923	SCN4A	c.4486T>A (p.Tyr1496Asn)
17	g.63941797G>A	CA501348253	SCN4A	c.4485C>T (p.Ile1495=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941797G>C	CA400615924	SCN4A	c.4485C>G (p.Ile1495Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941797G=	CA2270161105	SCN4A	c.4485C= (p.Ile1495=)
17	g.63941797G>T	CA501348254	SCN4A	c.4485C>A (p.Ile1495=)	COSMIC
17	g.63941798A=	CA2270161106	SCN4A	c.4484T= (p.Ile1495=)
17	g.63941798A>C	CA400615925	SCN4A	c.4484T>G (p.Ile1495Ser)
17	g.63941798A>G	CA400615926	SCN4A	c.4484T>C (p.Ile1495Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941798A>T	CA400615927	SCN4A	c.4484T>A (p.Ile1495Asn)
17	g.63941799T>A	CA341679	SCN4A	c.4483A>T (p.Ile1495Phe)	dbSNP
17	g.63941799T>C	CA400615928	SCN4A	c.4483A>G (p.Ile1495Val)
17	g.63941799T>G	CA400615929	SCN4A	c.4483A>C (p.Ile1495Leu)
17	g.63941799T=	CA2270161107	SCN4A	c.4483A= (p.Ile1495=)

Number of alleles fetched