Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941915_63941930del	CA2739268312	SCN4A	c.4354_4369del (p.Leu1452ValfsTer5)	ClinVar
17	g.63941919T>A	CA400616159	SCN4A	c.4363A>T (p.Ile1455Phe)
17	g.63941919T>C	CA400616161	SCN4A	c.4363A>G (p.Ile1455Val)
17	g.63941919T>G	CA400616160	SCN4A	c.4363A>C (p.Ile1455Leu)
17	g.63941920C>A	CA8708981	SCN4A	c.4362G>T (p.Arg1454=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941920C=	CA2270161173	SCN4A	c.4362G= (p.Arg1454=)
17	g.63941920C>G	CA501348522	SCN4A	c.4362G>C (p.Arg1454=)
17	g.63941920C>T	CA501348523	SCN4A	c.4362G>A (p.Arg1454=)	ClinVar dbSNP gnomAD v4 COSMIC
17	g.63941921C>A	CA400616162	SCN4A	c.4361G>T (p.Arg1454Leu)
17	g.63941921C=	CA2270161174	SCN4A	c.4361G= (p.Arg1454=)
17	g.63941921C>G	CA400616163	SCN4A	c.4361G>C (p.Arg1454Pro)
17	g.63941921C>T	CA8708982	SCN4A	c.4361G>A (p.Arg1454Gln)	ClinVar dbSNP ExAC gnomAD v4 COSMIC
17	g.63941922G>A	CA10584065	SCN4A	c.4360C>T (p.Arg1454Trp)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941922G>C	CA400616164	SCN4A	c.4360C>G (p.Arg1454Gly)
17	g.63941922G=	CA2270161175	SCN4A	c.4360C= (p.Arg1454=)
17	g.63941922G>T	CA501348524	SCN4A	c.4360C>A (p.Arg1454=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941923C>A	CA501348525	SCN4A	c.4359G>T (p.Ala1453=)
17	g.63941923C=	CA2270161176	SCN4A	c.4359G= (p.Ala1453=)
17	g.63941923C>G	CA501348526	SCN4A	c.4359G>C (p.Ala1453=)
17	g.63941923C>T	CA8708983	SCN4A	c.4359G>A (p.Ala1453=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941924G>A	CA8708984	SCN4A	c.4358C>T (p.Ala1453Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941924G>C	CA400616165	SCN4A	c.4358C>G (p.Ala1453Gly)
17	g.63941924G=	CA2270161177	SCN4A	c.4358C= (p.Ala1453=)
17	g.63941924G>T	CA8708985	SCN4A	c.4358C>A (p.Ala1453Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941925C>A	CA400616166	SCN4A	c.4357G>T (p.Ala1453Ser)
17	g.63941925C>G	CA400616167	SCN4A	c.4357G>C (p.Ala1453Pro)	gnomAD v4
17	g.63941925C>T	CA400616168	SCN4A	c.4357G>A (p.Ala1453Thr)	COSMIC
17	g.63941926C>A	CA501348528	SCN4A	c.4356G>T (p.Leu1452=)
17	g.63941926C=	CA2270161178	SCN4A	c.4356G= (p.Leu1452=)
17	g.63941926C>G	CA501348527	SCN4A	c.4356G>C (p.Leu1452=)
17	g.63941926C>T	CA8708986	SCN4A	c.4356G>A (p.Leu1452=)	ClinVar dbSNP ExAC gnomAD v2 COSMIC
17	g.63941927A=	CA2270161179	SCN4A	c.4355T= (p.Leu1452=)
17	g.63941927A>C	CA400616169	SCN4A	c.4355T>G (p.Leu1452Arg)
17	g.63941927A>G	CA400616170	SCN4A	c.4355T>C (p.Leu1452Pro)	dbSNP gnomAD v2 gnomAD v4
17	g.63941927A>T	CA400616171	SCN4A	c.4355T>A (p.Leu1452Gln)
17	g.63941928G>A	CA501348530	SCN4A	c.4354C>T (p.Leu1452=)
17	g.63941928G>C	CA400616172	SCN4A	c.4354C>G (p.Leu1452Val)
17	g.63941928G>T	CA400616173	SCN4A	c.4354C>A (p.Leu1452Met)
17	g.63941929G>A	CA8708987	SCN4A	c.4353C>T (p.Arg1451=)	dbSNP ExAC gnomAD v4
17	g.63941929G>C	CA501348531	SCN4A	c.4353C>G (p.Arg1451=)
17	g.63941929G=	CA2270161180	SCN4A	c.4353C= (p.Arg1451=)
17	g.63941929G>T	CA501348532	SCN4A	c.4353C>A (p.Arg1451=)
17	g.63941930C>A	CA8708988	SCN4A	c.4352G>T (p.Arg1451Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941930C=	CA2270161181	SCN4A	c.4352G= (p.Arg1451=)
17	g.63941930C>G	CA400616174	SCN4A	c.4352G>C (p.Arg1451Pro)
17	g.63941930C>T	CA292957365	SCN4A	c.4352G>A (p.Arg1451His)	ClinVar dbSNP gnomAD v4
17	g.63941931G>A	CA8708989	SCN4A	c.4351C>T (p.Arg1451Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941931G>C	CA400616175	SCN4A	c.4351C>G (p.Arg1451Gly)
17	g.63941931G=	CA2270161182	SCN4A	c.4351C= (p.Arg1451=)
17	g.63941931G>T	CA400616176	SCN4A	c.4351C>A (p.Arg1451Ser)
17	g.63941932G>A	CA501348533	SCN4A	c.4350C>T (p.Ile1450=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
17	g.63941932G>C	CA400616177	SCN4A	c.4350C>G (p.Ile1450Met)
17	g.63941932G=	CA2270161183	SCN4A	c.4350C= (p.Ile1450=)
17	g.63941932G>T	CA501348534	SCN4A	c.4350C>A (p.Ile1450=)
17	g.63941933A=	CA2270161184	SCN4A	c.4349T= (p.Ile1450=)
17	g.63941933A>C	CA292957366	SCN4A	c.4349T>G (p.Ile1450Ser)	dbSNP gnomAD v4
17	g.63941933A>G	CA400616178	SCN4A	c.4349T>C (p.Ile1450Thr)
17	g.63941933A>T	CA400616179	SCN4A	c.4349T>A (p.Ile1450Asn)
17	g.63941934T>A	CA400616180	SCN4A	c.4348A>T (p.Ile1450Phe)
17	g.63941934T>C	CA400616181	SCN4A	c.4348A>G (p.Ile1450Val)
17	g.63941934T>G	CA400616182	SCN4A	c.4348A>C (p.Ile1450Leu)	gnomAD v4
17	g.63941935C>A	CA501348535	SCN4A	c.4347G>T (p.Val1449=)
17	g.63941935C>G	CA501348536	SCN4A	c.4347G>C (p.Val1449=)
17	g.63941935C>T	CA501348537	SCN4A	c.4347G>A (p.Val1449=)
17	g.63941936A>C	CA400616183	SCN4A	c.4346T>G (p.Val1449Gly)
17	g.63941936A>G	CA400616184	SCN4A	c.4346T>C (p.Val1449Ala)
17	g.63941936A>T	CA400616185	SCN4A	c.4346T>A (p.Val1449Glu)
17	g.63941937C>A	CA400616186	SCN4A	c.4345G>T (p.Val1449Leu)
17	g.63941937C=	CA2270161185	SCN4A	c.4345G= (p.Val1449=)
17	g.63941937C>G	CA400616187	SCN4A	c.4345G>C (p.Val1449Leu)
17	g.63941937C>T	CA400616188	SCN4A	c.4345G>A (p.Val1449Met)	ClinVar dbSNP
17	g.63941938A=	CA2270161186	SCN4A	c.4344T= (p.Arg1448=)
17	g.63941938A>C	CA501348538	SCN4A	c.4344T>G (p.Arg1448=)
17	g.63941938A>G	CA501348540	SCN4A	c.4344T>C (p.Arg1448=)
17	g.63941938A>T	CA501348541	SCN4A	c.4344T>A (p.Arg1448=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941939C>A	CA400616189	SCN4A	c.4343G>T (p.Arg1448Leu)	ClinVar dbSNP
17	g.63941939C=	CA2270161187	SCN4A	c.4343G= (p.Arg1448=)
17	g.63941939C>G	CA350900	SCN4A	c.4343G>C (p.Arg1448Pro)	ClinVar dbSNP
17	g.63941939C>T	CA117836	SCN4A	c.4343G>A (p.Arg1448His)	ClinVar dbSNP gnomAD v4
17	g.63941940G>A	CA117835	SCN4A	c.4342C>T (p.Arg1448Cys)	ClinVar dbSNP gnomAD v4
17	g.63941940G>C	CA400616190	SCN4A	c.4342C>G (p.Arg1448Gly)	ClinVar dbSNP
17	g.63941940G=	CA2270161188	SCN4A	c.4342C= (p.Arg1448=)
17	g.63941940G>T	CA350903	SCN4A	c.4342C>A (p.Arg1448Ser)	ClinVar dbSNP
17	g.63941941G>A	CA501348542	SCN4A	c.4341C>T (p.Phe1447=)	ClinVar dbSNP
17	g.63941941G>C	CA400616191	SCN4A	c.4341C>G (p.Phe1447Leu)
17	g.63941941G=	CA2270161189	SCN4A	c.4341C= (p.Phe1447=)
17	g.63941941G>T	CA400616192	SCN4A	c.4341C>A (p.Phe1447Leu)
17	g.63941942A>C	CA400616193	SCN4A	c.4340T>G (p.Phe1447Cys)
17	g.63941942A>G	CA400616194	SCN4A	c.4340T>C (p.Phe1447Ser)	ClinVar
17	g.63941942A>T	CA400616195	SCN4A	c.4340T>A (p.Phe1447Tyr)
17	g.63941943A>C	CA400616196	SCN4A	c.4339T>G (p.Phe1447Val)
17	g.63941943A>G	CA400616197	SCN4A	c.4339T>C (p.Phe1447Leu)
17	g.63941943A>T	CA400616198	SCN4A	c.4339T>A (p.Phe1447Ile)
17	g.63941944C>A	CA501348544	SCN4A	c.4338G>T (p.Leu1446=)
17	g.63941944C=	CA2270161190	SCN4A	c.4338G= (p.Leu1446=)
17	g.63941944C>G	CA8708990	SCN4A	c.4338G>C (p.Leu1446=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941944C>T	CA292957369	SCN4A	c.4338G>A (p.Leu1446=)	dbSNP
17	g.63941945A>C	CA400616201	SCN4A	c.4337T>G (p.Leu1446Arg)
17	g.63941945A>G	CA400616200	SCN4A	c.4337T>C (p.Leu1446Pro)
17	g.63941945A>T	CA400616199	SCN4A	c.4337T>A (p.Leu1446Gln)
17	g.63941946G>A	CA501348546	SCN4A	c.4336C>T (p.Leu1446=)
17	g.63941946G>C	CA400616202	SCN4A	c.4336C>G (p.Leu1446Val)
17	g.63941946G>T	CA400616203	SCN4A	c.4336C>A (p.Leu1446Met)
17	g.63941947C>A	CA501348548	SCN4A	c.4335G>T (p.Thr1445=)	dbSNP gnomAD v4
17	g.63941947C=	CA2270161191	SCN4A	c.4335G= (p.Thr1445=)
17	g.63941947C>G	CA501348547	SCN4A	c.4335G>C (p.Thr1445=)
17	g.63941947C>T	CA8708991	SCN4A	c.4335G>A (p.Thr1445=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941948G>A	CA8708992	SCN4A	c.4334C>T (p.Thr1445Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941948G>C	CA400616204	SCN4A	c.4334C>G (p.Thr1445Arg)
17	g.63941948G=	CA2270161192	SCN4A	c.4334C= (p.Thr1445=)
17	g.63941948G>T	CA400616205	SCN4A	c.4334C>A (p.Thr1445Lys)	gnomAD v4
17	g.63941949T>A	CA400616206	SCN4A	c.4333A>T (p.Thr1445Ser)
17	g.63941949T>C	CA400616207	SCN4A	c.4333A>G (p.Thr1445Ala)
17	g.63941949T>G	CA400616208	SCN4A	c.4333A>C (p.Thr1445Pro)
17	g.63941950G>A	CA501348549	SCN4A	c.4332C>T (p.Pro1444=)
17	g.63941950G>C	CA501348550	SCN4A	c.4332C>G (p.Pro1444=)
17	g.63941950G>T	CA501348551	SCN4A	c.4332C>A (p.Pro1444=)
17	g.63941951G>A	CA400616209	SCN4A	c.4331C>T (p.Pro1444Leu)
17	g.63941951G>C	CA400616210	SCN4A	c.4331C>G (p.Pro1444Arg)
17	g.63941951G>T	CA400616211	SCN4A	c.4331C>A (p.Pro1444His)
17	g.63941952G>A	CA400616212	SCN4A	c.4330C>T (p.Pro1444Ser)	gnomAD v4
17	g.63941952G>C	CA400616213	SCN4A	c.4330C>G (p.Pro1444Ala)
17	g.63941952G=	CA2270161193	SCN4A	c.4330C= (p.Pro1444=)
17	g.63941952G>T	CA400616214	SCN4A	c.4330C>A (p.Pro1444Thr)	dbSNP
17	g.63941953T>A	CA501348553	SCN4A	c.4329A>T (p.Ser1443=)
17	g.63941953T>C	CA501348555	SCN4A	c.4329A>G (p.Ser1443=)
17	g.63941953T>G	CA501348554	SCN4A	c.4329A>C (p.Ser1443=)
17	g.63941954G>A	CA400616217	SCN4A	c.4328C>T (p.Ser1443Leu)	gnomAD v4
17	g.63941954G>C	CA400616216	SCN4A	c.4328C>G (p.Ser1443Ter)
17	g.63941954G>T	CA400616215	SCN4A	c.4328C>A (p.Ser1443Ter)
17	g.63941955A>C	CA400616218	SCN4A	c.4327T>G (p.Ser1443Ala)
17	g.63941955A>G	CA400616219	SCN4A	c.4327T>C (p.Ser1443Pro)
17	g.63941955A>T	CA400616220	SCN4A	c.4327T>A (p.Ser1443Thr)
17	g.63941956C>A	CA501348561	SCN4A	c.4326G>T (p.Val1442=)	gnomAD v4
17	g.63941956C>G	CA501348562	SCN4A	c.4326G>C (p.Val1442=)
17	g.63941956C>T	CA501348563	SCN4A	c.4326G>A (p.Val1442=)
17	g.63941957A=	CA2270161194	SCN4A	c.4325T= (p.Val1442=)
17	g.63941957A>C	CA400616221	SCN4A	c.4325T>G (p.Val1442Gly)
17	g.63941957A>G	CA400616222	SCN4A	c.4325T>C (p.Val1442Ala)
17	g.63941957A>T	CA117848	SCN4A	c.4325T>A (p.Val1442Glu)	ClinVar dbSNP gnomAD v4
17	g.63941957_63941958insGAGTGAGA	CA2810126901	SCN4A	c.4325_4326insCTCACTCT (p.Pro1444LeufsTer9)
17	g.63941958C>A	CA400616223	SCN4A	c.4324G>T (p.Val1442Leu)	gnomAD v4
17	g.63941958C=	CA2270161195	SCN4A	c.4324G= (p.Val1442=)
17	g.63941958C>G	CA400616224	SCN4A	c.4324G>C (p.Val1442Leu)	gnomAD v4
17	g.63941958C>T	CA8708993	SCN4A	c.4324G>A (p.Val1442Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941958_63941959insCCCATTTCTAAAAACTATTCTTAA	CA2810126904	SCN4A	c.4323_4324insTTAAGAATAGTTTTTAGAAATGGG (p.Phe1441_Val1442insLeuArgIleValPheArgAsnGly)
17	g.63941959G>A	CA8708994	SCN4A	c.4323C>T (p.Phe1441=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941959G>C	CA400616225	SCN4A	c.4323C>G (p.Phe1441Leu)
17	g.63941959G=	CA2270161196	SCN4A	c.4323C= (p.Phe1441=)
17	g.63941959G>T	CA400616226	SCN4A	c.4323C>A (p.Phe1441Leu)	gnomAD v4
17	g.63941960A>C	CA400616228	SCN4A	c.4322T>G (p.Phe1441Cys)
17	g.63941960A>G	CA400616229	SCN4A	c.4322T>C (p.Phe1441Ser)
17	g.63941960A>T	CA400616227	SCN4A	c.4322T>A (p.Phe1441Tyr)
17	g.63941961A=	CA2270161197	SCN4A	c.4321T= (p.Phe1441=)
17	g.63941961A>C	CA400616230	SCN4A	c.4321T>G (p.Phe1441Val)
17	g.63941961A>G	CA400616231	SCN4A	c.4321T>C (p.Phe1441Leu)
17	g.63941961A>T	CA400616232	SCN4A	c.4321T>A (p.Phe1441Ile)	dbSNP gnomAD v4
17	g.63941962G>A	CA292957400	SCN4A	c.4320C>T (p.Tyr1440=)	dbSNP
17	g.63941962G>C	CA400616233	SCN4A	c.4320C>G (p.Tyr1440Ter)
17	g.63941962G=	CA2270161198	SCN4A	c.4320C= (p.Tyr1440=)
17	g.63941962G>T	CA400616234	SCN4A	c.4320C>A (p.Tyr1440Ter)
17	g.63941963T>A	CA400616235	SCN4A	c.4319A>T (p.Tyr1440Phe)
17	g.63941963T>C	CA400616236	SCN4A	c.4319A>G (p.Tyr1440Cys)
17	g.63941963T>G	CA400616237	SCN4A	c.4319A>C (p.Tyr1440Ser)
17	g.63941964A>C	CA400616238	SCN4A	c.4318T>G (p.Tyr1440Asp)
17	g.63941964A>G	CA400616239	SCN4A	c.4318T>C (p.Tyr1440His)
17	g.63941964A>T	CA400616240	SCN4A	c.4318T>A (p.Tyr1440Asn)
17	g.63941965C>A	CA400616241	SCN4A	c.4317G>T (p.Lys1439Asn)	gnomAD v4
17	g.63941965C>G	CA400616242	SCN4A	c.4317G>C (p.Lys1439Asn)
17	g.63941965C>T	CA501348580	SCN4A	c.4317G>A (p.Lys1439=)	gnomAD v4
17	g.63941966T>A	CA400616245	SCN4A	c.4316A>T (p.Lys1439Met)
17	g.63941966T>C	CA400616244	SCN4A	c.4316A>G (p.Lys1439Arg)
17	g.63941966T>G	CA400616243	SCN4A	c.4316A>C (p.Lys1439Thr)
17	g.63941967T>A	CA400616246	SCN4A	c.4315A>T (p.Lys1439Ter)	dbSNP
17	g.63941967T>C	CA400616247	SCN4A	c.4315A>G (p.Lys1439Glu)	gnomAD v4
17	g.63941967T>G	CA400616248	SCN4A	c.4315A>C (p.Lys1439Gln)
17	g.63941967T=	CA2270161199	SCN4A	c.4315A= (p.Lys1439=)
17	g.63941968C>A	CA400616249	SCN4A	c.4314G>T (p.Gln1438His)	gnomAD v4
17	g.63941968C=	CA2270161200	SCN4A	c.4314G= (p.Gln1438=)
17	g.63941968C>G	CA400616250	SCN4A	c.4314G>C (p.Gln1438His)
17	g.63941968C>T	CA501348584	SCN4A	c.4314G>A (p.Gln1438=)	dbSNP gnomAD v2
17	g.63941969T>A	CA400616251	SCN4A	c.4313A>T (p.Gln1438Leu)
17	g.63941969T>C	CA8708995	SCN4A	c.4313A>G (p.Gln1438Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941969T>G	CA400616252	SCN4A	c.4313A>C (p.Gln1438Pro)
17	g.63941969T=	CA2270161201	SCN4A	c.4313A= (p.Gln1438=)
17	g.63941970G>A	CA400616253	SCN4A	c.4312C>T (p.Gln1438Ter)
17	g.63941970G>C	CA400616254	SCN4A	c.4312C>G (p.Gln1438Glu)
17	g.63941970G>T	CA400616255	SCN4A	c.4312C>A (p.Gln1438Lys)	gnomAD v4
17	g.63941971G>A	CA501348589	SCN4A	c.4311C>T (p.Ile1437=)
17	g.63941971G>C	CA400616256	SCN4A	c.4311C>G (p.Ile1437Met)
17	g.63941971G>T	CA501348591	SCN4A	c.4311C>A (p.Ile1437=)	gnomAD v4
17	g.63941972A>C	CA400616259	SCN4A	c.4310T>G (p.Ile1437Ser)
17	g.63941972A>G	CA400616258	SCN4A	c.4310T>C (p.Ile1437Thr)
17	g.63941972A>T	CA400616257	SCN4A	c.4310T>A (p.Ile1437Asn)
17	g.63941973T>A	CA400616260	SCN4A	c.4309A>T (p.Ile1437Phe)
17	g.63941973T>C	CA400616262	SCN4A	c.4309A>G (p.Ile1437Val)
17	g.63941973T>G	CA400616261	SCN4A	c.4309A>C (p.Ile1437Leu)
17	g.63941974C>A	CA501348598	SCN4A	c.4308G>T (p.Leu1436=)	gnomAD v4
17	g.63941974C>G	CA501348596	SCN4A	c.4308G>C (p.Leu1436=)
17	g.63941974C>T	CA501348594	SCN4A	c.4308G>A (p.Leu1436=)
17	g.63941975A=	CA2270161202	SCN4A	c.4307T= (p.Leu1436=)
17	g.63941975A>C	CA400616263	SCN4A	c.4307T>G (p.Leu1436Arg)
17	g.63941975A>G	CA400616264	SCN4A	c.4307T>C (p.Leu1436Pro)	ClinVar dbSNP gnomAD v4
17	g.63941975A>T	CA400616265	SCN4A	c.4307T>A (p.Leu1436Gln)
17	g.63941976G>A	CA501348601	SCN4A	c.4306C>T (p.Leu1436=)
17	g.63941976G>C	CA400616266	SCN4A	c.4306C>G (p.Leu1436Val)
17	g.63941976G>T	CA400616267	SCN4A	c.4306C>A (p.Leu1436Met)
17	g.63941977G>A	CA501348605	SCN4A	c.4305C>T (p.Asp1435=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941977G>C	CA400616268	SCN4A	c.4305C>G (p.Asp1435Glu)
17	g.63941977G=	CA2270161203	SCN4A	c.4305C= (p.Asp1435=)
17	g.63941977G>T	CA400616269	SCN4A	c.4305C>A (p.Asp1435Glu)
17	g.63941978T>A	CA400616270	SCN4A	c.4304A>T (p.Asp1435Val)
17	g.63941978T>C	CA400616271	SCN4A	c.4304A>G (p.Asp1435Gly)	gnomAD v4
17	g.63941978T>G	CA400616272	SCN4A	c.4304A>C (p.Asp1435Ala)
17	g.63941979C>A	CA400616274	SCN4A	c.4303G>T (p.Asp1435Tyr)	gnomAD v4
17	g.63941979C=	CA2270161204	SCN4A	c.4303G= (p.Asp1435=)
17	g.63941979C>G	CA8708996	SCN4A	c.4303G>C (p.Asp1435His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941979C>T	CA400616273	SCN4A	c.4303G>A (p.Asp1435Asn)
17	g.63941980A>C	CA501214142	SCN4A	c.4302T>G (p.Ser1434=)
17	g.63941980A>G	CA501214144	SCN4A	c.4302T>C (p.Ser1434=)	gnomAD v4
17	g.63941980A>T	CA501214143	SCN4A	c.4302T>A (p.Ser1434=)
17	g.63941981G>A	CA400616275	SCN4A	c.4301C>T (p.Ser1434Phe)
17	g.63941981G>C	CA400616276	SCN4A	c.4301C>G (p.Ser1434Cys)
17	g.63941981G=	CA2270161205	SCN4A	c.4301C= (p.Ser1434=)
17	g.63941981G>T	CA400616277	SCN4A	c.4301C>A (p.Ser1434Tyr)	ClinVar dbSNP gnomAD v4
17	g.63941982A=	CA2270161206	SCN4A	c.4300T= (p.Ser1434=)
17	g.63941982A>C	CA400616278	SCN4A	c.4300T>G (p.Ser1434Ala)
17	g.63941982A>G	CA400616279	SCN4A	c.4300T>C (p.Ser1434Pro)	ClinVar dbSNP gnomAD v4
17	g.63941982A>T	CA400616280	SCN4A	c.4300T>A (p.Ser1434Thr)
17	g.63941983del	CA2810126911	SCN4A	c.4299del (p.Ser1434LeufsTer3)
17	g.63941983G>A	CA501214145	SCN4A	c.4299C>T (p.Leu1433=)	gnomAD v4
17	g.63941983G>C	CA501214146	SCN4A	c.4299C>G (p.Leu1433=)
17	g.63941983G>T	CA501214147	SCN4A	c.4299C>A (p.Leu1433=)
17	g.63941984A=	CA2270161207	SCN4A	c.4298T= (p.Leu1433=)
17	g.63941984A>C	CA117844	SCN4A	c.4298T>G (p.Leu1433Arg)	ClinVar dbSNP
17	g.63941984A>G	CA400616281	SCN4A	c.4298T>C (p.Leu1433Pro)	dbSNP gnomAD v3 gnomAD v4
17	g.63941984A>T	CA400616282	SCN4A	c.4298T>A (p.Leu1433His)
17	g.63941985G>A	CA400616283	SCN4A	c.4297C>T (p.Leu1433Phe)	ClinVar
17	g.63941985G>C	CA400616284	SCN4A	c.4297C>G (p.Leu1433Val)
17	g.63941985G>T	CA400616285	SCN4A	c.4297C>A (p.Leu1433Ile)
17	g.63941986G>A	CA501214148	SCN4A	c.4296C>T (p.Ala1432=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941986G>C	CA501214149	SCN4A	c.4296C>G (p.Ala1432=)
17	g.63941986G=	CA2270161208	SCN4A	c.4296C= (p.Ala1432=)
17	g.63941986G>T	CA501214150	SCN4A	c.4296C>A (p.Ala1432=)	gnomAD v4
17	g.63941987G>A	CA400616287	SCN4A	c.4295C>T (p.Ala1432Val)	dbSNP gnomAD v4
17	g.63941987G>C	CA400616288	SCN4A	c.4295C>G (p.Ala1432Gly)
17	g.63941987G=	CA2270161209	SCN4A	c.4295C= (p.Ala1432=)
17	g.63941987G>T	CA400616286	SCN4A	c.4295C>A (p.Ala1432Asp)	gnomAD v4
17	g.63941988C>A	CA400616289	SCN4A	c.4294G>T (p.Ala1432Ser)	gnomAD v4
17	g.63941988C=	CA2270161210	SCN4A	c.4294G= (p.Ala1432=)
17	g.63941988C>G	CA400616290	SCN4A	c.4294G>C (p.Ala1432Pro)	ClinVar dbSNP gnomAD v4
17	g.63941988C>T	CA400616291	SCN4A	c.4294G>A (p.Ala1432Thr)	dbSNP gnomAD v2
17	g.63941989A>C	CA501214151	SCN4A	c.4293T>G (p.Leu1431=)
17	g.63941989A>G	CA501214152	SCN4A	c.4293T>C (p.Leu1431=)
17	g.63941989A>T	CA501214153	SCN4A	c.4293T>A (p.Leu1431=)
17	g.63941990A=	CA2270161211	SCN4A	c.4292T= (p.Leu1431=)
17	g.63941990A>C	CA400616292	SCN4A	c.4292T>G (p.Leu1431Arg)
17	g.63941990A>G	CA400616293	SCN4A	c.4292T>C (p.Leu1431Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941990A>T	CA400616294	SCN4A	c.4292T>A (p.Leu1431His)
17	g.63941991G>A	CA400616295	SCN4A	c.4291C>T (p.Leu1431Phe)
17	g.63941991G>C	CA400616296	SCN4A	c.4291C>G (p.Leu1431Val)
17	g.63941991G=	CA2270161212	SCN4A	c.4291C= (p.Leu1431=)
17	g.63941991G>T	CA8708997	SCN4A	c.4291C>A (p.Leu1431Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941992G>A	CA8708998	SCN4A	c.4290C>T (p.Gly1430=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941992G>C	CA501214155	SCN4A	c.4290C>G (p.Gly1430=)
17	g.63941992G=	CA2270161213	SCN4A	c.4290C= (p.Gly1430=)
17	g.63941992G>T	CA501214156	SCN4A	c.4290C>A (p.Gly1430=)
17	g.63941993C>A	CA400616297	SCN4A	c.4289G>T (p.Gly1430Val)	gnomAD v4
17	g.63941993C=	CA2270161214	SCN4A	c.4289G= (p.Gly1430=)
17	g.63941993C>G	CA400616298	SCN4A	c.4289G>C (p.Gly1430Ala)
17	g.63941993C>T	CA400616299	SCN4A	c.4289G>A (p.Gly1430Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.63941994C>A	CA400616302	SCN4A	c.4289-1G>T (n.4289-1G>T)
17	g.63941994C=	CA2270161215	SCN4A	c.4289-1G= (n.4289-1G=)
17	g.63941994C>G	CA400616301	SCN4A	c.4289-1G>C (n.4289-1G>C)
17	g.63941994C>T	CA400616300	SCN4A	c.4289-1G>A (n.4289-1G>A)
17	g.63941994_63941995insCACAA	CA626860715	SCN4A	c.4289-2_4289-1insTTGTG (n.4289-2_4289-1insTTGTG)	dbSNP gnomAD v2
17	g.63941995T>A	CA400616303	SCN4A	c.4289-2A>T (n.4289-2A>T)	dbSNP
17	g.63941995T>C	CA400616304	SCN4A	c.4289-2A>G (n.4289-2A>G)	gnomAD v4
17	g.63941995T>G	CA400616305	SCN4A	c.4289-2A>C (n.4289-2A>C)	gnomAD v4
17	g.63941995T=	CA2270161216	SCN4A	c.4289-2A= (n.4289-2A=)
17	g.63941997_63942050del	CA2639307675	SCN4A	c.4289-55_4289-2del (n.4289-55_4289-2del)	gnomAD v4
17	g.63941996G>A	CA2639307680	SCN4A	c.4289-3C>T (n.4289-3C>T)	gnomAD v4
17	g.63941996G=	CA2270161217	SCN4A	c.4289-3C= (n.4289-3C=)
17	g.63941996_63941997insGACAGGATGA	CA626860718	SCN4A	c.4289-4_4289-3insTCATCCTGTC (n.4289-4_4289-3insTCATCCTGTC)	dbSNP gnomAD v2
17	g.63941997C>A	CA2639307685	SCN4A	c.4289-4G>T (n.4289-4G>T)	gnomAD v4
17	g.63941997C=	CA2270161218	SCN4A	c.4289-4G= (n.4289-4G=)
17	g.63941997C>T	CA8708999	SCN4A	c.4289-4G>A (n.4289-4G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941998G>A	CA626860721	SCN4A	c.4289-5C>T (n.4289-5C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941998G=	CA2270161219	SCN4A	c.4289-5C= (n.4289-5C=)
17	g.63941998G>T	CA2639307694	SCN4A	c.4289-5C>A (n.4289-5C>A)	gnomAD v4
17	g.63942001del	CA2576355443	SCN4A	c.4289-5del (n.4289-5del)
17	g.63941998_63941999insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA	CA626860723	SCN4A	c.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT (n.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT)	gnomAD v2
17	g.63941999G>A	CA2639307697	SCN4A	c.4289-6C>T (n.4289-6C>T)	gnomAD v4
17	g.63941999G>C	CA2639307700	SCN4A	c.4289-6C>G (n.4289-6C>G)	gnomAD v4
17	g.63941999G>T	CA2639307701	SCN4A	c.4289-6C>A (n.4289-6C>A)	gnomAD v4
17	g.63942000G>A	CA8709000	SCN4A	c.4289-7C>T (n.4289-7C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63942000G>C	CA2580094705	SCN4A	c.4289-7C>G (n.4289-7C>G)	ClinVar
17	g.63942000G=	CA2270161220	SCN4A	c.4289-7C= (n.4289-7C=)
17	g.63942001G>A	CA2270161222	SCN4A	c.4289-8C>T (n.4289-8C>T)	dbSNP
17	g.63942001G>C	CA2639307703	SCN4A	c.4289-8C>G (n.4289-8C>G)	gnomAD v4
17	g.63942001G=	CA2270161221	SCN4A	c.4289-8C= (n.4289-8C=)
17	g.63942001G>T	CA2639307705	SCN4A	c.4289-8C>A (n.4289-8C>A)	gnomAD v4
17	g.63942002A>G	CA2639307707	SCN4A	c.4289-9T>C (n.4289-9T>C)	gnomAD v4
17	g.63942003G>T	CA2639307708	SCN4A	c.4289-10C>A (n.4289-10C>A)	gnomAD v4
17	g.63942005A=	CA2270161223	SCN4A	c.4289-12T= (n.4289-12T=)
17	g.63942005A>G	CA985439223	SCN4A	c.4289-12T>C (n.4289-12T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.63942007_63942014del	CA2576355444	SCN4A	c.4289-19_4289-12del (n.4289-19_4289-12del)
17	g.63942006G>A	CA2639307709	SCN4A	c.4289-13C>T (n.4289-13C>T)	gnomAD v4
17	g.63942006G>T	CA2639307710	SCN4A	c.4289-13C>A (n.4289-13C>A)	gnomAD v4
17	g.63942007C>A	CA2639307712	SCN4A	c.4289-14G>T (n.4289-14G>T)	gnomAD v4
17	g.63942007C>T	CA2639307713	SCN4A	c.4289-14G>A (n.4289-14G>A)	gnomAD v4
17	g.63942008T>C	CA2639307714	SCN4A	c.4289-15A>G (n.4289-15A>G)	gnomAD v4
17	g.63942011T>A	CA2576355445	SCN4A	c.4289-18A>T (n.4289-18A>T)
17	g.63942011T>G	CA2639307716	SCN4A	c.4289-18A>C (n.4289-18A>C)	gnomAD v4
17	g.63942012G>T	CA2639307717	SCN4A	c.4289-19C>A (n.4289-19C>A)	gnomAD v4
17	g.63942013A>G	CA2639307718	SCN4A	c.4289-20T>C (n.4289-20T>C)	gnomAD v4
17	g.63942014G=	CA2270161224	SCN4A	c.4289-21C= (n.4289-21C=)
17	g.63942014G>T	CA626860725	SCN4A	c.4289-21C>A (n.4289-21C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63942016A>C	CA2639307720	SCN4A	c.4289-23T>G (n.4289-23T>G)	gnomAD v4
17	g.63942017C>A	CA2270161226	SCN4A	c.4289-24G>T (n.4289-24G>T)	dbSNP gnomAD v4
17	g.63942017C=	CA2270161225	SCN4A	c.4289-24G= (n.4289-24G=)
17	g.63942017C>T	CA8709001	SCN4A	c.4289-24G>A (n.4289-24G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
17	g.63942018G>A	CA8709002	SCN4A	c.4289-25C>T (n.4289-25C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63942018G>C	CA2639307723	SCN4A	c.4289-25C>G (n.4289-25C>G)	gnomAD v4
17	g.63942018G=	CA2270161227	SCN4A	c.4289-25C= (n.4289-25C=)
17	g.63942018G>T	CA2639307722	SCN4A	c.4289-25C>A (n.4289-25C>A)	gnomAD v4
17	g.63942019C>A	CA2639307724	SCN4A	c.4289-26G>T (n.4289-26G>T)	gnomAD v4
17	g.63942019C>T	CA2639307725	SCN4A	c.4289-26G>A (n.4289-26G>A)	gnomAD v4

Number of alleles fetched