Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5044913T>A	CA383465113	KCNA5	c.766T>A (p.Ser256Thr)
12	g.5044913T>C	CA383465114	KCNA5	c.766T>C (p.Ser256Pro)
12	g.5044913T>G	CA383465112	KCNA5	c.766T>G (p.Ser256Ala)
12	g.5044914C>A	CA383465115	KCNA5	c.767C>A (p.Ser256Ter)
12	g.5044914C=	CA2013430954	KCNA5	c.767C= (p.Ser256=)
12	g.5044914C>G	CA383465116	KCNA5	c.767C>G (p.Ser256Trp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044914C>T	CA383465117	KCNA5	c.767C>T (p.Ser256Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5044915G>A	CA231867795	KCNA5	c.768G>A (p.Ser256=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044915G>C	CA478095373	KCNA5	c.768G>C (p.Ser256=)	dbSNP gnomAD v2
12	g.5044915G=	CA2013430955	KCNA5	c.768G= (p.Ser256=)
12	g.5044915G>T	CA478095372	KCNA5	c.768G>T (p.Ser256=)	gnomAD v4
12	g.5044916G>A	CA383465118	KCNA5	c.769G>A (p.Val257Ile)
12	g.5044916G>C	CA383465119	KCNA5	c.769G>C (p.Val257Leu)
12	g.5044916G>T	CA383465120	KCNA5	c.769G>T (p.Val257Phe)
12	g.5044917T>A	CA383465121	KCNA5	c.770T>A (p.Val257Asp)	dbSNP
12	g.5044917T>C	CA383465122	KCNA5	c.770T>C (p.Val257Ala)	ClinVar dbSNP
12	g.5044917T>G	CA383465123	KCNA5	c.770T>G (p.Val257Gly)
12	g.5044917T=	CA2013430956	KCNA5	c.770T= (p.Val257=)
12	g.5044918C>A	CA478095374	KCNA5	c.771C>A (p.Val257=)
12	g.5044918C>G	CA478095375	KCNA5	c.771C>G (p.Val257=)
12	g.5044918C>T	CA478095376	KCNA5	c.771C>T (p.Val257=)
12	g.5044919T>A	CA383465124	KCNA5	c.772T>A (p.Leu258Met)
12	g.5044919T>C	CA478095377	KCNA5	c.772T>C (p.Leu258=)	gnomAD v4
12	g.5044919T>G	CA383465125	KCNA5	c.772T>G (p.Leu258Val)
12	g.5044920T>A	CA383465126	KCNA5	c.773T>A (p.Leu258Ter)
12	g.5044920T>C	CA383465127	KCNA5	c.773T>C (p.Leu258Ser)	dbSNP
12	g.5044920T>G	CA383465128	KCNA5	c.773T>G (p.Leu258Trp)
12	g.5044920T=	CA2013430957	KCNA5	c.773T= (p.Leu258=)
12	g.5044921G>A	CA478095381	KCNA5	c.774G>A (p.Leu258=)
12	g.5044921G>C	CA383465129	KCNA5	c.774G>C (p.Leu258Phe)
12	g.5044921G=	CA2013430958	KCNA5	c.774G= (p.Leu258=)
12	g.5044921G>T	CA231867807	KCNA5	c.774G>T (p.Leu258Phe)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5044922G>A	CA6399711	KCNA5	c.775G>A (p.Val259Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044922G>C	CA383465130	KCNA5	c.775G>C (p.Val259Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.5044922G=	CA2013430959	KCNA5	c.775G= (p.Val259=)
12	g.5044922G>T	CA231867812	KCNA5	c.775G>T (p.Val259Phe)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044923T>A	CA383465131	KCNA5	c.776T>A (p.Val259Asp)
12	g.5044923T>C	CA383465132	KCNA5	c.776T>C (p.Val259Ala)	gnomAD v4
12	g.5044923T>G	CA383465133	KCNA5	c.776T>G (p.Val259Gly)
12	g.5044924T>A	CA478095382	KCNA5	c.777T>A (p.Val259=)
12	g.5044924T>C	CA478095383	KCNA5	c.777T>C (p.Val259=)	gnomAD v4
12	g.5044924T>G	CA478095384	KCNA5	c.777T>G (p.Val259=)
12	g.5044925A=	CA2013430960	KCNA5	c.778A= (p.Ile260=)
12	g.5044925A>C	CA383465135	KCNA5	c.778A>C (p.Ile260Leu)
12	g.5044925A>G	CA383465134	KCNA5	c.778A>G (p.Ile260Val)
12	g.5044925A>T	CA6399712	KCNA5	c.778A>T (p.Ile260Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044926T>A	CA383465136	KCNA5	c.779T>A (p.Ile260Asn)
12	g.5044926T>C	CA383465137	KCNA5	c.779T>C (p.Ile260Thr)
12	g.5044926T>G	CA383465138	KCNA5	c.779T>G (p.Ile260Ser)
12	g.5044927C>A	CA478095388	KCNA5	c.780C>A (p.Ile260=)
12	g.5044927C=	CA2013430961	KCNA5	c.780C= (p.Ile260=)
12	g.5044927C>G	CA383465139	KCNA5	c.780C>G (p.Ile260Met)
12	g.5044927C>T	CA6399713	KCNA5	c.780C>T (p.Ile260=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044928C>A	CA383465140	KCNA5	c.781C>A (p.Leu261Ile)
12	g.5044928C>G	CA383465142	KCNA5	c.781C>G (p.Leu261Val)
12	g.5044928C>T	CA383465141	KCNA5	c.781C>T (p.Leu261Phe)
12	g.5044929T>A	CA383465143	KCNA5	c.782T>A (p.Leu261His)
12	g.5044929T>C	CA383465144	KCNA5	c.782T>C (p.Leu261Pro)
12	g.5044929T>G	CA383465145	KCNA5	c.782T>G (p.Leu261Arg)
12	g.5044930C>A	CA478095391	KCNA5	c.783C>A (p.Leu261=)
12	g.5044930C>G	CA478095392	KCNA5	c.783C>G (p.Leu261=)
12	g.5044930C>T	CA478095394	KCNA5	c.783C>T (p.Leu261=)
12	g.5044931A>C	CA383465147	KCNA5	c.784A>C (p.Ile262Leu)
12	g.5044931A>G	CA383465148	KCNA5	c.784A>G (p.Ile262Val)
12	g.5044931A>T	CA383465149	KCNA5	c.784A>T (p.Ile262Phe)
12	g.5044932T>A	CA383465152	KCNA5	c.785T>A (p.Ile262Asn)
12	g.5044932T>C	CA383465150	KCNA5	c.785T>C (p.Ile262Thr)
12	g.5044932T>G	CA383465151	KCNA5	c.785T>G (p.Ile262Ser)
12	g.5044933C>A	CA478095396	KCNA5	c.786C>A (p.Ile262=)	gnomAD v4
12	g.5044933C=	CA2013430962	KCNA5	c.786C= (p.Ile262=)
12	g.5044933C>G	CA383465153	KCNA5	c.786C>G (p.Ile262Met)
12	g.5044933C>T	CA6399714	KCNA5	c.786C>T (p.Ile262=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044934T>A	CA383465154	KCNA5	c.787T>A (p.Ser263Thr)
12	g.5044934T>C	CA383465155	KCNA5	c.787T>C (p.Ser263Pro)
12	g.5044934T>G	CA383465156	KCNA5	c.787T>G (p.Ser263Ala)	COSMIC
12	g.5044935C>A	CA383465157	KCNA5	c.788C>A (p.Ser263Tyr)
12	g.5044935C>G	CA383465159	KCNA5	c.788C>G (p.Ser263Cys)
12	g.5044935C>T	CA383465158	KCNA5	c.788C>T (p.Ser263Phe)
12	g.5044936C>A	CA478095400	KCNA5	c.789C>A (p.Ser263=)
12	g.5044936C>G	CA478095399	KCNA5	c.789C>G (p.Ser263=)
12	g.5044936C>T	CA478095398	KCNA5	c.789C>T (p.Ser263=)	gnomAD v4
12	g.5044937A>C	CA383465160	KCNA5	c.790A>C (p.Ile264Leu)
12	g.5044937A>G	CA383465161	KCNA5	c.790A>G (p.Ile264Val)
12	g.5044937A>T	CA383465162	KCNA5	c.790A>T (p.Ile264Phe)
12	g.5044938T>A	CA383465163	KCNA5	c.791T>A (p.Ile264Asn)
12	g.5044938T>C	CA383465164	KCNA5	c.791T>C (p.Ile264Thr)
12	g.5044938T>G	CA383465165	KCNA5	c.791T>G (p.Ile264Ser)
12	g.5044939C>A	CA478095402	KCNA5	c.792C>A (p.Ile264=)
12	g.5044939C=	CA2013430963	KCNA5	c.792C= (p.Ile264=)
12	g.5044939C>G	CA383465166	KCNA5	c.792C>G (p.Ile264Met)
12	g.5044939C>T	CA6399715	KCNA5	c.792C>T (p.Ile264=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044940A>C	CA383465167	KCNA5	c.793A>C (p.Ile265Leu)
12	g.5044940A>G	CA383465168	KCNA5	c.793A>G (p.Ile265Val)
12	g.5044940A>T	CA383465169	KCNA5	c.793A>T (p.Ile265Phe)
12	g.5044941T>A	CA383465171	KCNA5	c.794T>A (p.Ile265Asn)
12	g.5044941T>C	CA383465172	KCNA5	c.794T>C (p.Ile265Thr)
12	g.5044941T>G	CA383465170	KCNA5	c.794T>G (p.Ile265Ser)
12	g.5044942C>A	CA478095405	KCNA5	c.795C>A (p.Ile265=)
12	g.5044942C=	CA2013430964	KCNA5	c.795C= (p.Ile265=)
12	g.5044942C>G	CA383465173	KCNA5	c.795C>G (p.Ile265Met)	ClinVar dbSNP
12	g.5044942C>T	CA6399716	KCNA5	c.795C>T (p.Ile265=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044943A=	CA2013430965	KCNA5	c.796A= (p.Thr266=)
12	g.5044943A>C	CA383465175	KCNA5	c.796A>C (p.Thr266Pro)	gnomAD v4
12	g.5044943A>G	CA383465174	KCNA5	c.796A>G (p.Thr266Ala)
12	g.5044943A>T	CA231867849	KCNA5	c.796A>T (p.Thr266Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.5044944C>A	CA383465176	KCNA5	c.797C>A (p.Thr266Asn)
12	g.5044944C=	CA2013430966	KCNA5	c.797C= (p.Thr266=)
12	g.5044944C>G	CA383465177	KCNA5	c.797C>G (p.Thr266Ser)
12	g.5044944C>T	CA6399717	KCNA5	c.797C>T (p.Thr266Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044945C>A	CA478095406	KCNA5	c.798C>A (p.Thr266=)	gnomAD v4
12	g.5044945C=	CA2013430967	KCNA5	c.798C= (p.Thr266=)
12	g.5044945C>G	CA478095407	KCNA5	c.798C>G (p.Thr266=)
12	g.5044945C>T	CA478095408	KCNA5	c.798C>T (p.Thr266=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044946T>A	CA383465178	KCNA5	c.799T>A (p.Phe267Ile)
12	g.5044946T>C	CA383465179	KCNA5	c.799T>C (p.Phe267Leu)
12	g.5044946T>G	CA383465180	KCNA5	c.799T>G (p.Phe267Val)
12	g.5044947T>A	CA383465181	KCNA5	c.800T>A (p.Phe267Tyr)
12	g.5044947T>C	CA6399718	KCNA5	c.800T>C (p.Phe267Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044947T>G	CA383465182	KCNA5	c.800T>G (p.Phe267Cys)
12	g.5044947T=	CA2013430968	KCNA5	c.800T= (p.Phe267=)
12	g.5044948C>A	CA383465183	KCNA5	c.801C>A (p.Phe267Leu)
12	g.5044948C=	CA2013430969	KCNA5	c.801C= (p.Phe267=)
12	g.5044948C>G	CA383465184	KCNA5	c.801C>G (p.Phe267Leu)	dbSNP gnomAD v4
12	g.5044948C>T	CA478095410	KCNA5	c.801C>T (p.Phe267=)
12	g.5044949T>A	CA383465185	KCNA5	c.802T>A (p.Cys268Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5044949T>C	CA383465187	KCNA5	c.802T>C (p.Cys268Arg)
12	g.5044949T>G	CA383465186	KCNA5	c.802T>G (p.Cys268Gly)
12	g.5044949T=	CA2013430970	KCNA5	c.802T= (p.Cys268=)
12	g.5044950G>A	CA383465188	KCNA5	c.803G>A (p.Cys268Tyr)
12	g.5044950G>C	CA383465189	KCNA5	c.803G>C (p.Cys268Ser)
12	g.5044950G>T	CA383465190	KCNA5	c.803G>T (p.Cys268Phe)
12	g.5044951C>A	CA383465191	KCNA5	c.804C>A (p.Cys268Ter)	COSMIC
12	g.5044951C=	CA2013430971	KCNA5	c.804C= (p.Cys268=)
12	g.5044951C>G	CA383465192	KCNA5	c.804C>G (p.Cys268Trp)
12	g.5044951C>T	CA6399719	KCNA5	c.804C>T (p.Cys268=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044952T>A	CA383465193	KCNA5	c.805T>A (p.Leu269Met)	dbSNP
12	g.5044952T>C	CA478095413	KCNA5	c.805T>C (p.Leu269=)
12	g.5044952T>G	CA383465194	KCNA5	c.805T>G (p.Leu269Val)
12	g.5044952T=	CA2013430972	KCNA5	c.805T= (p.Leu269=)
12	g.5044953T>A	CA383465195	KCNA5	c.806T>A (p.Leu269Ter)
12	g.5044953T>C	CA383465196	KCNA5	c.806T>C (p.Leu269Ser)
12	g.5044953T>G	CA383465197	KCNA5	c.806T>G (p.Leu269Trp)
12	g.5044954G>A	CA6399720	KCNA5	c.807G>A (p.Leu269=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044954G>C	CA383465199	KCNA5	c.807G>C (p.Leu269Phe)
12	g.5044954G=	CA2013430973	KCNA5	c.807G= (p.Leu269=)
12	g.5044954G>T	CA383465198	KCNA5	c.807G>T (p.Leu269Phe)
12	g.5044955G>A	CA383465202	KCNA5	c.808G>A (p.Glu270Lys)
12	g.5044955G>C	CA383465200	KCNA5	c.808G>C (p.Glu270Gln)	COSMIC
12	g.5044955G>T	CA383465201	KCNA5	c.808G>T (p.Glu270Ter)
12	g.5044956A=	CA2013430974	KCNA5	c.809A= (p.Glu270=)
12	g.5044956A>C	CA383465203	KCNA5	c.809A>C (p.Glu270Ala)
12	g.5044956A>G	CA383465204	KCNA5	c.809A>G (p.Glu270Gly)
12	g.5044956A>T	CA231867871	KCNA5	c.809A>T (p.Glu270Val)	dbSNP
12	g.5044957G>A	CA478095421	KCNA5	c.810G>A (p.Glu270=)
12	g.5044957G>C	CA231867872	KCNA5	c.810G>C (p.Glu270Asp)	dbSNP
12	g.5044957G=	CA2013430975	KCNA5	c.810G= (p.Glu270=)
12	g.5044957G>T	CA383465205	KCNA5	c.810G>T (p.Glu270Asp)
12	g.5044958A=	CA2013430976	KCNA5	c.811A= (p.Thr271=)
12	g.5044958A>C	CA383465206	KCNA5	c.811A>C (p.Thr271Pro)	dbSNP gnomAD v4
12	g.5044958A>G	CA383465207	KCNA5	c.811A>G (p.Thr271Ala)
12	g.5044958A>T	CA383465208	KCNA5	c.811A>T (p.Thr271Ser)
12	g.5044959C>A	CA6399721	KCNA5	c.812C>A (p.Thr271Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044959C=	CA2013430977	KCNA5	c.812C= (p.Thr271=)
12	g.5044959C>G	CA383465209	KCNA5	c.812C>G (p.Thr271Ser)	gnomAD v4
12	g.5044959C>T	CA383465210	KCNA5	c.812C>T (p.Thr271Ile)	gnomAD v4
12	g.5044960C>A	CA478095427	KCNA5	c.813C>A (p.Thr271=)	dbSNP
12	g.5044960C>G	CA478095429	KCNA5	c.813C>G (p.Thr271=)
12	g.5044960C>T	CA478095428	KCNA5	c.813C>T (p.Thr271=)	gnomAD v4
12	g.5044961C>A	CA383465212	KCNA5	c.814C>A (p.Leu272Met)
12	g.5044961C=	CA2013430978	KCNA5	c.814C= (p.Leu272=)
12	g.5044961C>G	CA383465211	KCNA5	c.814C>G (p.Leu272Val)
12	g.5044961C>T	CA478095432	KCNA5	c.814C>T (p.Leu272=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044962T>A	CA383465213	KCNA5	c.815T>A (p.Leu272Gln)	dbSNP gnomAD v2 gnomAD v4
12	g.5044962T>C	CA383465214	KCNA5	c.815T>C (p.Leu272Pro)
12	g.5044962T>G	CA383465215	KCNA5	c.815T>G (p.Leu272Arg)
12	g.5044962T=	CA2013430979	KCNA5	c.815T= (p.Leu272=)
12	g.5044963G>A	CA6399722	KCNA5	c.816G>A (p.Leu272=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044963G>C	CA478095435	KCNA5	c.816G>C (p.Leu272=)
12	g.5044963G=	CA2013430980	KCNA5	c.816G= (p.Leu272=)
12	g.5044963G>T	CA478095436	KCNA5	c.816G>T (p.Leu272=)
12	g.5044964C>A	CA383465216	KCNA5	c.817C>A (p.Pro273Thr)	gnomAD v4
12	g.5044964C=	CA2013430981	KCNA5	c.817C= (p.Pro273=)
12	g.5044964C>G	CA383465217	KCNA5	c.817C>G (p.Pro273Ala)
12	g.5044964C>T	CA383465218	KCNA5	c.817C>T (p.Pro273Ser)	dbSNP gnomAD v2 COSMIC
12	g.5044965C>A	CA383465219	KCNA5	c.818C>A (p.Pro273His)	gnomAD v4
12	g.5044965C>G	CA383465220	KCNA5	c.818C>G (p.Pro273Arg)
12	g.5044965C>T	CA383465221	KCNA5	c.818C>T (p.Pro273Leu)
12	g.5044966T>A	CA478095439	KCNA5	c.819T>A (p.Pro273=)
12	g.5044966T>C	CA478095442	KCNA5	c.819T>C (p.Pro273=)
12	g.5044966T>G	CA478095440	KCNA5	c.819T>G (p.Pro273=)
12	g.5044967G>A	CA383465222	KCNA5	c.820G>A (p.Glu274Lys)	gnomAD v4
12	g.5044967G>C	CA383465223	KCNA5	c.820G>C (p.Glu274Gln)
12	g.5044967G>T	CA383465224	KCNA5	c.820G>T (p.Glu274Ter)
12	g.5044968A>C	CA383465226	KCNA5	c.821A>C (p.Glu274Ala)
12	g.5044968A>G	CA383465227	KCNA5	c.821A>G (p.Glu274Gly)
12	g.5044968A>T	CA383465225	KCNA5	c.821A>T (p.Glu274Val)	gnomAD v4
12	g.5044969G>A	CA478095449	KCNA5	c.822G>A (p.Glu274=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044969G>C	CA383465228	KCNA5	c.822G>C (p.Glu274Asp)
12	g.5044969G=	CA2013430982	KCNA5	c.822G= (p.Glu274=)
12	g.5044969G>T	CA383465229	KCNA5	c.822G>T (p.Glu274Asp)
12	g.5044970T>A	CA383465230	KCNA5	c.823T>A (p.Phe275Ile)
12	g.5044970T>C	CA383465231	KCNA5	c.823T>C (p.Phe275Leu)
12	g.5044970T>G	CA383465232	KCNA5	c.823T>G (p.Phe275Val)
12	g.5044971T>A	CA383465233	KCNA5	c.824T>A (p.Phe275Tyr)	gnomAD v4
12	g.5044971T>C	CA383465234	KCNA5	c.824T>C (p.Phe275Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044971T>G	CA383465235	KCNA5	c.824T>G (p.Phe275Cys)
12	g.5044971T=	CA2013430983	KCNA5	c.824T= (p.Phe275=)
12	g.5044972C>A	CA231867903	KCNA5	c.825C>A (p.Phe275Leu)	dbSNP
12	g.5044972C=	CA2013430984	KCNA5	c.825C= (p.Phe275=)
12	g.5044972C>G	CA383465236	KCNA5	c.825C>G (p.Phe275Leu)	gnomAD v4
12	g.5044972C>T	CA478095455	KCNA5	c.825C>T (p.Phe275=)
12	g.5044973A>C	CA478095456	KCNA5	c.826A>C (p.Arg276=)
12	g.5044973A>G	CA383465237	KCNA5	c.826A>G (p.Arg276Gly)
12	g.5044973A>T	CA383465238	KCNA5	c.826A>T (p.Arg276Trp)
12	g.5044974G>A	CA6399723	KCNA5	c.827G>A (p.Arg276Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044974G>C	CA383465239	KCNA5	c.827G>C (p.Arg276Thr)
12	g.5044974G=	CA2013430985	KCNA5	c.827G= (p.Arg276=)
12	g.5044974G>T	CA383465240	KCNA5	c.827G>T (p.Arg276Met)
12	g.5044975G>A	CA6399724	KCNA5	c.828G>A (p.Arg276=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044975G>C	CA383465242	KCNA5	c.828G>C (p.Arg276Ser)
12	g.5044975G=	CA2013430986	KCNA5	c.828G= (p.Arg276=)
12	g.5044975G>T	CA383465241	KCNA5	c.828G>T (p.Arg276Ser)
12	g.5044976G>A	CA6399725	KCNA5	c.829G>A (p.Asp277Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044976G>C	CA383465243	KCNA5	c.829G>C (p.Asp277His)	dbSNP gnomAD v4
12	g.5044976G=	CA2013430987	KCNA5	c.829G= (p.Asp277=)
12	g.5044976G>T	CA383465244	KCNA5	c.829G>T (p.Asp277Tyr)	gnomAD v4
12	g.5044977A=	CA2013430988	KCNA5	c.830A= (p.Asp277=)
12	g.5044977A>C	CA383465245	KCNA5	c.830A>C (p.Asp277Ala)
12	g.5044977A>G	CA231867923	KCNA5	c.830A>G (p.Asp277Gly)	ClinVar dbSNP gnomAD v4
12	g.5044977A>T	CA383465246	KCNA5	c.830A>T (p.Asp277Val)
12	g.5044978T>A	CA383465247	KCNA5	c.831T>A (p.Asp277Glu)	gnomAD v4
12	g.5044978T>C	CA478095197	KCNA5	c.831T>C (p.Asp277=)	gnomAD v4
12	g.5044978T>G	CA383465248	KCNA5	c.831T>G (p.Asp277Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044978T=	CA2013430989	KCNA5	c.831T= (p.Asp277=)
12	g.5044979G>A	CA383465249	KCNA5	c.832G>A (p.Glu278Lys)
12	g.5044979G>C	CA383465250	KCNA5	c.832G>C (p.Glu278Gln)
12	g.5044979G>T	CA383465251	KCNA5	c.832G>T (p.Glu278Ter)
12	g.5044980A>C	CA383465252	KCNA5	c.833A>C (p.Glu278Ala)
12	g.5044980A>G	CA383465254	KCNA5	c.833A>G (p.Glu278Gly)
12	g.5044980A>T	CA383465253	KCNA5	c.833A>T (p.Glu278Val)
12	g.5044981A=	CA2013430990	KCNA5	c.834A= (p.Glu278=)
12	g.5044981A>C	CA383465255	KCNA5	c.834A>C (p.Glu278Asp)	dbSNP gnomAD v4
12	g.5044981A>G	CA478095210	KCNA5	c.834A>G (p.Glu278=)	gnomAD v4
12	g.5044981A>T	CA383465256	KCNA5	c.834A>T (p.Glu278Asp)
12	g.5044982C>A	CA383465257	KCNA5	c.835C>A (p.Arg279Ser)	COSMIC
12	g.5044982C=	CA2013430991	KCNA5	c.835C= (p.Arg279=)
12	g.5044982C>G	CA383465258	KCNA5	c.835C>G (p.Arg279Gly)
12	g.5044982C>T	CA6399726	KCNA5	c.835C>T (p.Arg279Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044983G>A	CA6399727	KCNA5	c.836G>A (p.Arg279His)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044983G>C	CA383465259	KCNA5	c.836G>C (p.Arg279Pro)	gnomAD v4
12	g.5044983G=	CA2013430992	KCNA5	c.836G= (p.Arg279=)
12	g.5044983G>T	CA383465260	KCNA5	c.836G>T (p.Arg279Leu)	dbSNP
12	g.5044984T>A	CA6399728	KCNA5	c.837T>A (p.Arg279=)	dbSNP ExAC gnomAD v2
12	g.5044984T>C	CA478095211	KCNA5	c.837T>C (p.Arg279=)
12	g.5044984T>G	CA478095212	KCNA5	c.837T>G (p.Arg279=)
12	g.5044984T=	CA2013430993	KCNA5	c.837T= (p.Arg279=)
12	g.5044985G>A	CA383465261	KCNA5	c.838G>A (p.Glu280Lys)
12	g.5044985G>C	CA383465262	KCNA5	c.838G>C (p.Glu280Gln)
12	g.5044985G>T	CA383465263	KCNA5	c.838G>T (p.Glu280Ter)
12	g.5044986A>C	CA383465266	KCNA5	c.839A>C (p.Glu280Ala)
12	g.5044986A>G	CA383465264	KCNA5	c.839A>G (p.Glu280Gly)
12	g.5044986A>T	CA383465265	KCNA5	c.839A>T (p.Glu280Val)
12	g.5044987G>A	CA478095215	KCNA5	c.840G>A (p.Glu280=)
12	g.5044987G>C	CA383465267	KCNA5	c.840G>C (p.Glu280Asp)
12	g.5044987G>T	CA383465268	KCNA5	c.840G>T (p.Glu280Asp)	gnomAD v4
12	g.5044988C>A	CA383465269	KCNA5	c.841C>A (p.Leu281Met)	gnomAD v4 COSMIC
12	g.5044988C=	CA2013430994	KCNA5	c.841C= (p.Leu281=)
12	g.5044988C>G	CA383465270	KCNA5	c.841C>G (p.Leu281Val)
12	g.5044988C>T	CA478095216	KCNA5	c.841C>T (p.Leu281=)	dbSNP gnomAD v2 gnomAD v4
12	g.5044988_5044989delinsTA	CA645578787	KCNA5	c.841_842delinsTA (p.Leu281Ter)	COSMIC
12	g.5044989T>A	CA383465271	KCNA5	c.842T>A (p.Leu281Gln)
12	g.5044989T>C	CA383465272	KCNA5	c.842T>C (p.Leu281Pro)
12	g.5044989T>G	CA383465273	KCNA5	c.842T>G (p.Leu281Arg)
12	g.5044990G>A	CA6399729	KCNA5	c.843G>A (p.Leu281=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5044990G>C	CA478095218	KCNA5	c.843G>C (p.Leu281=)	dbSNP gnomAD v2
12	g.5044990G=	CA2013430995	KCNA5	c.843G= (p.Leu281=)
12	g.5044990G>T	CA231867974	KCNA5	c.843G>T (p.Leu281=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044991C>A	CA383465274	KCNA5	c.844C>A (p.Leu282Ile)
12	g.5044991C>G	CA383465275	KCNA5	c.844C>G (p.Leu282Val)
12	g.5044991C>T	CA383465276	KCNA5	c.844C>T (p.Leu282Phe)	gnomAD v4
12	g.5044992T>A	CA383465278	KCNA5	c.845T>A (p.Leu282His)
12	g.5044992T>C	CA383465279	KCNA5	c.845T>C (p.Leu282Pro)	gnomAD v4
12	g.5044992T>G	CA383465277	KCNA5	c.845T>G (p.Leu282Arg)
12	g.5044992T=	CA2013430996	KCNA5	c.845T= (p.Leu282=)
12	g.5044993C>A	CA478095225	KCNA5	c.846C>A (p.Leu282=)
12	g.5044993C=	CA2013430997	KCNA5	c.846C= (p.Leu282=)
12	g.5044993C>G	CA478095224	KCNA5	c.846C>G (p.Leu282=)
12	g.5044993C>T	CA478095223	KCNA5	c.846C>T (p.Leu282=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044994del	CA2617209906	KCNA5	c.847del (p.Arg283AlafsTer?)	gnomAD v4
12	g.5044995_5045012dup	CA6399730	KCNA5	c.848_865dup (p.Pro288_His289insArgHisProProAlaPro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044995_5045012del	CA2617209905	KCNA5	c.848_865del (p.Arg283_Pro288del)	gnomAD v4
12	g.5044994C>A	CA383465280	KCNA5	c.847C>A (p.Arg283Ser)
12	g.5044994C=	CA2013430998	KCNA5	c.847C= (p.Arg283=)
12	g.5044994C>G	CA383465281	KCNA5	c.847C>G (p.Arg283Gly)
12	g.5044994C>T	CA10641639	KCNA5	c.847C>T (p.Arg283Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5044995G>A	CA6399731	KCNA5	c.848G>A (p.Arg283His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5044995G>C	CA383465282	KCNA5	c.848G>C (p.Arg283Pro)	gnomAD v4
12	g.5044995G=	CA2013431000	KCNA5	c.848G= (p.Arg283=)
12	g.5044995G>T	CA383465283	KCNA5	c.848G>T (p.Arg283Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5044995_5045013delinsGCCACCCTCCGGCGCCCCA	CA2013430999	KCNA5	c.848_866delinsGCCACCCTCCGGCGCCCCA (p.Arg283=)
12	g.5044996C>A	CA478095230	KCNA5	c.849C>A (p.Arg283=)
12	g.5044996C=	CA2013431001	KCNA5	c.849C= (p.Arg283=)
12	g.5044996C>G	CA478095228	KCNA5	c.849C>G (p.Arg283=)
12	g.5044996C>T	CA478095229	KCNA5	c.849C>T (p.Arg283=)	dbSNP gnomAD v3 gnomAD v4
12	g.5044999_5045016del	CA6399732	KCNA5	c.852_869del (p.His284_His289del)	ClinVar dbSNP ExAC gnomAD v4
12	g.5044997C>A	CA383465284	KCNA5	c.850C>A (p.His284Asn)
12	g.5044997C=	CA2013431002	KCNA5	c.850C= (p.His284=)
12	g.5044997C>G	CA383465285	KCNA5	c.850C>G (p.His284Asp)
12	g.5044997C>T	CA6399733	KCNA5	c.850C>T (p.His284Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5044998A>C	CA383465286	KCNA5	c.851A>C (p.His284Pro)
12	g.5044998A>G	CA383465287	KCNA5	c.851A>G (p.His284Arg)
12	g.5044998A>T	CA383465288	KCNA5	c.851A>T (p.His284Leu)
12	g.5044999C>A	CA383465290	KCNA5	c.852C>A (p.His284Gln)
12	g.5044999C=	CA2013431003	KCNA5	c.852C= (p.His284=)
12	g.5044999C>G	CA383465289	KCNA5	c.852C>G (p.His284Gln)
12	g.5044999C>T	CA6399734	KCNA5	c.852C>T (p.His284=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045000C>A	CA383465291	KCNA5	c.853C>A (p.Pro285Thr)
12	g.5045000C=	CA2013431004	KCNA5	c.853C= (p.Pro285=)
12	g.5045000C>G	CA383465292	KCNA5	c.853C>G (p.Pro285Ala)	ClinVar dbSNP gnomAD v4 COSMIC
12	g.5045000C>T	CA383465293	KCNA5	c.853C>T (p.Pro285Ser)
12	g.5045001C>A	CA383465294	KCNA5	c.854C>A (p.Pro285His)	gnomAD v4
12	g.5045001C=	CA2013431005	KCNA5	c.854C= (p.Pro285=)
12	g.5045001C>G	CA383465295	KCNA5	c.854C>G (p.Pro285Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.5045001C>T	CA383465296	KCNA5	c.854C>T (p.Pro285Leu)
12	g.5045002T>A	CA478095236	KCNA5	c.855T>A (p.Pro285=)
12	g.5045002T>C	CA478095238	KCNA5	c.855T>C (p.Pro285=)
12	g.5045002T>G	CA478095237	KCNA5	c.855T>G (p.Pro285=)
12	g.5045003C>A	CA383465297	KCNA5	c.856C>A (p.Pro286Thr)
12	g.5045003C>G	CA383465298	KCNA5	c.856C>G (p.Pro286Ala)
12	g.5045003C>T	CA383465299	KCNA5	c.856C>T (p.Pro286Ser)
12	g.5045004C>A	CA383465300	KCNA5	c.857C>A (p.Pro286Gln)	gnomAD v4
12	g.5045004C=	CA2013431006	KCNA5	c.857C= (p.Pro286=)
12	g.5045004C>G	CA383465301	KCNA5	c.857C>G (p.Pro286Arg)
12	g.5045004C>T	CA6399735	KCNA5	c.857C>T (p.Pro286Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045005G>A	CA6399736	KCNA5	c.858G>A (p.Pro286=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045005G>C	CA478095241	KCNA5	c.858G>C (p.Pro286=)	gnomAD v4
12	g.5045005G=	CA2013431007	KCNA5	c.858G= (p.Pro286=)
12	g.5045005G>T	CA478095242	KCNA5	c.858G>T (p.Pro286=)
12	g.5045006G>A	CA383465303	KCNA5	c.859G>A (p.Ala287Thr)	gnomAD v4
12	g.5045006G>C	CA383465302	KCNA5	c.859G>C (p.Ala287Pro)
12	g.5045006G=	CA2013431008	KCNA5	c.859G= (p.Ala287=)
12	g.5045006G>T	CA6399737	KCNA5	c.859G>T (p.Ala287Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045006_5045007delinsGC	CA2013431009	KCNA5	c.859_860delinsGC (p.Ala287=)
12	g.5045006_5045007delinsTT	CA913190307	KCNA5	c.859_860delinsTT (p.Ala287Leu)	ClinVar dbSNP
12	g.5045007C>A	CA383465304	KCNA5	c.860C>A (p.Ala287Glu)	ClinVar gnomAD v4
12	g.5045007C=	CA2013431010	KCNA5	c.860C= (p.Ala287=)
12	g.5045007C>G	CA383465305	KCNA5	c.860C>G (p.Ala287Gly)
12	g.5045007C>T	CA6399738	KCNA5	c.860C>T (p.Ala287Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045008G>A	CA478095246	KCNA5	c.861G>A (p.Ala287=)	gnomAD v4 COSMIC
12	g.5045008G>C	CA478095244	KCNA5	c.861G>C (p.Ala287=)
12	g.5045008G>T	CA478095245	KCNA5	c.861G>T (p.Ala287=)	gnomAD v4
12	g.5045009C>A	CA383465306	KCNA5	c.862C>A (p.Pro288Thr)
12	g.5045009C>G	CA383465307	KCNA5	c.862C>G (p.Pro288Ala)
12	g.5045009C>T	CA383465308	KCNA5	c.862C>T (p.Pro288Ser)	gnomAD v4
12	g.5045010C>A	CA383465309	KCNA5	c.863C>A (p.Pro288His)
12	g.5045010C>G	CA383465310	KCNA5	c.863C>G (p.Pro288Arg)
12	g.5045010C>T	CA383465311	KCNA5	c.863C>T (p.Pro288Leu)
12	g.5045011C>A	CA478095247	KCNA5	c.864C>A (p.Pro288=)
12	g.5045011C=	CA2013431011	KCNA5	c.864C= (p.Pro288=)
12	g.5045011C>G	CA478095248	KCNA5	c.864C>G (p.Pro288=)
12	g.5045011C>T	CA478095249	KCNA5	c.864C>T (p.Pro288=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045012C>A	CA383465312	KCNA5	c.865C>A (p.His289Asn)
12	g.5045012C=	CA2013431012	KCNA5	c.865C= (p.His289=)
12	g.5045012C>G	CA383465313	KCNA5	c.865C>G (p.His289Asp)
12	g.5045012C>T	CA383465314	KCNA5	c.865C>T (p.His289Tyr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045013A>C	CA383465315	KCNA5	c.866A>C (p.His289Pro)
12	g.5045013A>G	CA383465316	KCNA5	c.866A>G (p.His289Arg)	gnomAD v4 COSMIC
12	g.5045013A>T	CA383465317	KCNA5	c.866A>T (p.His289Leu)

Number of alleles fetched