Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.72891463G>A	CA347232742	SPR	c.712G>A (p.Ala238Thr) n.657G>A
2	g.72891463G>C	CA347232744	SPR	c.712G>C (p.Ala238Pro) n.657G>C
2	g.72891463G>T	CA347232746	SPR	c.712G>T (p.Ala238Ser) n.657G>T
2	g.72891464C>A	CA347232750	SPR	c.713C>A (p.Ala238Asp) n.658C>A
2	g.72891464C>G	CA347232752	SPR	c.713C>G (p.Ala238Gly) n.658C>G
2	g.72891464C>T	CA347232748	SPR	c.713C>T (p.Ala238Val) n.658C>T
2	g.72891465C>A	CA426703630	SPR	c.714C>A (p.Ala238=) n.659C>A
2	g.72891465C>G	CA426703629	SPR	c.714C>G (p.Ala238=) n.659C>G
2	g.72891465C>T	CA426703627	SPR	c.714C>T (p.Ala238=) n.659C>T
2	g.72891466C>A	CA347232757	SPR	c.715C>A (p.Gln239Lys) n.660C>A
2	g.72891466C=	CA1260705224	SPR	c.715C= (p.Gln239=) n.660C=
2	g.72891466C>G	CA347232754	SPR	c.715C>G (p.Gln239Glu) n.660C>G
2	g.72891466C>T	CA1709025	SPR	c.715C>T (p.Gln239Ter) n.660C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72891467A>C	CA347232759	SPR	c.716A>C (p.Gln239Pro) n.661A>C
2	g.72891467A>G	CA347232761	SPR	c.716A>G (p.Gln239Arg) n.661A>G
2	g.72891467A>T	CA347232763	SPR	c.716A>T (p.Gln239Leu) n.661A>T
2	g.72891468G>A	CA426703634	SPR	c.717G>A (p.Gln239=) n.662G>A
2	g.72891468G>C	CA347232765	SPR	c.717G>C (p.Gln239His) n.662G>C
2	g.72891468G>T	CA347232767	SPR	c.717G>T (p.Gln239His) n.662G>T
2	g.72891469A>C	CA347232769	SPR	c.718A>C (p.Lys240Gln) n.663A>C
2	g.72891469A>G	CA347232771	SPR	c.718A>G (p.Lys240Glu) n.663A>G	gnomAD v4
2	g.72891469A>T	CA347232773	SPR	c.718A>T (p.Lys240Ter) n.663A>T
2	g.72891470A>C	CA347232774	SPR	c.719A>C (p.Lys240Thr) n.664A>C
2	g.72891470A>G	CA347232776	SPR	c.719A>G (p.Lys240Arg) n.664A>G
2	g.72891470A>T	CA347232778	SPR	c.719A>T (p.Lys240Ile) n.664A>T
2	g.72891471A>C	CA347232780	SPR	c.720A>C (p.Lys240Asn) n.665A>C
2	g.72891471A>G	CA426703642	SPR	c.720A>G (p.Lys240=) n.665A>G	gnomAD v4
2	g.72891471A>T	CA347232782	SPR	c.720A>T (p.Lys240Asn) n.665A>T
2	g.72891472C>A	CA347232785	SPR	c.721C>A (p.Leu241Met) n.666C>A
2	g.72891472C=	CA1260705225	SPR	c.721C= (p.Leu241=) n.666C=
2	g.72891472C>G	CA347232786	SPR	c.721C>G (p.Leu241Val) n.666C>G
2	g.72891472C>T	CA1709026	SPR	c.721C>T (p.Leu241=) n.666C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891473T>A	CA347232788	SPR	c.722T>A (p.Leu241Gln) n.667T>A
2	g.72891473T>C	CA347232790	SPR	c.722T>C (p.Leu241Pro) n.667T>C
2	g.72891473T>G	CA347232792	SPR	c.722T>G (p.Leu241Arg) n.667T>G
2	g.72891474G>A	CA426703652	SPR	c.723G>A (p.Leu241=) n.668G>A
2	g.72891474G>C	CA426703651	SPR	c.723G>C (p.Leu241=) n.668G>C
2	g.72891474G>T	CA426703650	SPR	c.723G>T (p.Leu241=) n.668G>T
2	g.72891477_72891481del	CA2577002020	SPR	c.726_730del (p.Ser243ThrfsTer16) n.671_675del
2	g.72891475C>A	CA347232794	SPR	c.724C>A (p.Leu242Met) n.669C>A
2	g.72891475C>G	CA347232795	SPR	c.724C>G (p.Leu242Val) n.669C>G
2	g.72891475C>T	CA426703654	SPR	c.724C>T (p.Leu242=) n.669C>T
2	g.72891476T>A	CA347232796	SPR	c.725T>A (p.Leu242Gln) n.670T>A
2	g.72891476T>C	CA347232797	SPR	c.725T>C (p.Leu242Pro) n.670T>C
2	g.72891476T>G	CA49798643	SPR	c.725T>G (p.Leu242Arg) n.670T>G	dbSNP gnomAD v4
2	g.72891476T=	CA1260705226	SPR	c.725T= (p.Leu242=) n.670T=
2	g.72891477G>A	CA426703657	SPR	c.726G>A (p.Leu242=) n.671G>A	gnomAD v4
2	g.72891477G>C	CA426703661	SPR	c.726G>C (p.Leu242=) n.671G>C
2	g.72891477G>T	CA426703659	SPR	c.726G>T (p.Leu242=) n.671G>T
2	g.72891478A=	CA1260705227	SPR	c.727A= (p.Ser243=) n.672A=
2	g.72891478A>C	CA347232802	SPR	c.727A>C (p.Ser243Arg) n.672A>C
2	g.72891478A>G	CA347232804	SPR	c.727A>G (p.Ser243Gly) n.672A>G	dbSNP
2	g.72891478A>T	CA347232800	SPR	c.727A>T (p.Ser243Cys) n.672A>T
2	g.72891479G>A	CA49798651	SPR	c.728G>A (p.Ser243Asn) n.673G>A	dbSNP
2	g.72891479G>C	CA347232807	SPR	c.728G>C (p.Ser243Thr) n.673G>C
2	g.72891479G=	CA1260705228	SPR	c.728G= (p.Ser243=) n.673G=
2	g.72891479G>T	CA347232809	SPR	c.728G>T (p.Ser243Ile) n.673G>T
2	g.72891480C>A	CA347232811	SPR	c.729C>A (p.Ser243Arg) n.674C>A
2	g.72891480C=	CA1260705229	SPR	c.729C= (p.Ser243=) n.674C=
2	g.72891480C>G	CA347232812	SPR	c.729C>G (p.Ser243Arg) n.674C>G
2	g.72891480C>T	CA1709027	SPR	c.729C>T (p.Ser243=) n.674C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72891481T>A	CA347232813	SPR	c.730T>A (p.Leu244Ile) n.675T>A
2	g.72891481T>C	CA426703667	SPR	c.730T>C (p.Leu244=) n.675T>C	dbSNP gnomAD v3 gnomAD v4
2	g.72891481T>G	CA347232814	SPR	c.730T>G (p.Leu244Val) n.675T>G
2	g.72891481T=	CA1260705230	SPR	c.730T= (p.Leu244=) n.675T=
2	g.72891482T>A	CA347232815	SPR	c.731T>A (p.Leu244Ter) n.676T>A
2	g.72891482T>C	CA347232816	SPR	c.731T>C (p.Leu244Ser) n.676T>C
2	g.72891482T>G	CA347232817	SPR	c.731T>G (p.Leu244Ter) n.676T>G
2	g.72891483A>C	CA347232818	SPR	c.732A>C (p.Leu244Phe) n.677A>C
2	g.72891483A>G	CA426703671	SPR	c.732A>G (p.Leu244=) n.677A>G	gnomAD v4
2	g.72891483A>T	CA347232819	SPR	c.732A>T (p.Leu244Phe) n.677A>T
2	g.72891484C>A	CA347232821	SPR	c.733C>A (p.Leu245Met) n.678C>A
2	g.72891484C=	CA1260705231	SPR	c.733C= (p.Leu245=) n.678C=
2	g.72891484C>G	CA347232820	SPR	c.733C>G (p.Leu245Val) n.678C>G
2	g.72891484C>T	CA426703675	SPR	c.733C>T (p.Leu245=) n.678C>T	dbSNP
2	g.72891485T>A	CA347232822	SPR	c.734T>A (p.Leu245Gln) n.679T>A
2	g.72891485T>C	CA347232823	SPR	c.734T>C (p.Leu245Pro) n.679T>C
2	g.72891485T>G	CA347232824	SPR	c.734T>G (p.Leu245Arg) n.679T>G
2	g.72891486G>A	CA426703678	SPR	c.735G>A (p.Leu245=) n.680G>A
2	g.72891486G>C	CA426703679	SPR	c.735G>C (p.Leu245=) n.680G>C
2	g.72891486G>T	CA426703680	SPR	c.735G>T (p.Leu245=) n.680G>T
2	g.72891487G>A	CA347232825	SPR	c.736G>A (p.Glu246Lys) n.681G>A
2	g.72891487G>C	CA347232826	SPR	c.736G>C (p.Glu246Gln) n.681G>C	dbSNP
2	g.72891487G>T	CA347232827	SPR	c.736G>T (p.Glu246Ter) n.681G>T
2	g.72891488A>C	CA347232830	SPR	c.737A>C (p.Glu246Ala) n.682A>C
2	g.72891488A>G	CA347232828	SPR	c.737A>G (p.Glu246Gly) n.682A>G
2	g.72891488A>T	CA347232829	SPR	c.737A>T (p.Glu246Val) n.682A>T
2	g.72891489A>C	CA347232831	SPR	c.738A>C (p.Glu246Asp) n.683A>C
2	g.72891489A>G	CA426703688	SPR	c.738A>G (p.Glu246=) n.683A>G
2	g.72891489A>T	CA347232832	SPR	c.738A>T (p.Glu246Asp) n.683A>T
2	g.72891490A=	CA1260705232	SPR	c.739A= (p.Lys247=) n.684A=
2	g.72891490A>C	CA347232833	SPR	c.739A>C (p.Lys247Gln) n.684A>C
2	g.72891490A>G	CA347232834	SPR	c.739A>G (p.Lys247Glu) n.684A>G	dbSNP gnomAD v2 gnomAD v4
2	g.72891490A>T	CA347232835	SPR	c.739A>T (p.Lys247Ter) n.684A>T
2	g.72891491A>C	CA347232838	SPR	c.740A>C (p.Lys247Thr) n.685A>C
2	g.72891491A>G	CA347232837	SPR	c.740A>G (p.Lys247Arg) n.685A>G	COSMIC
2	g.72891491A>T	CA347232836	SPR	c.740A>T (p.Lys247Met) n.685A>T
2	g.72891492G>A	CA426703690	SPR	c.741G>A (p.Lys247=) n.686G>A	dbSNP gnomAD v4
2	g.72891492G>C	CA347232839	SPR	c.741G>C (p.Lys247Asn) n.686G>C
2	g.72891492G=	CA1260705233	SPR	c.741G= (p.Lys247=) n.686G=
2	g.72891492G>T	CA347232840	SPR	c.741G>T (p.Lys247Asn) n.686G>T
2	g.72891493G>A	CA347232841	SPR	c.742G>A (p.Asp248Asn) n.687G>A	dbSNP gnomAD v3 gnomAD v4
2	g.72891493G>C	CA347232842	SPR	c.742G>C (p.Asp248His) n.687G>C
2	g.72891493G=	CA1260705235	SPR	c.742G= (p.Asp248=) n.687G=
2	g.72891493G>T	CA347232843	SPR	c.742G>T (p.Asp248Tyr) n.687G>T
2	g.72891493_72891494dup	CA1260705234	SPR	c.742_743dup (p.Asp248GlufsTer23) n.687_688dup	dbSNP
2	g.72891494A>C	CA347232846	SPR	c.743A>C (p.Asp248Ala) n.688A>C
2	g.72891494A>G	CA347232845	SPR	c.743A>G (p.Asp248Gly) n.688A>G
2	g.72891494A>T	CA347232844	SPR	c.743A>T (p.Asp248Val) n.688A>T
2	g.72891495C>A	CA347232847	SPR	c.744C>A (p.Asp248Glu) n.689C>A	gnomAD v4
2	g.72891495C=	CA1260705236	SPR	c.744C= (p.Asp248=) n.689C=
2	g.72891495C>G	CA347232848	SPR	c.744C>G (p.Asp248Glu) n.689C>G
2	g.72891495C>T	CA1709028	SPR	c.744C>T (p.Asp248=) n.689C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891496G>A	CA1709029	SPR	c.745G>A (p.Glu249Lys) n.690G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.72891496G>C	CA347232849	SPR	c.745G>C (p.Glu249Gln) n.690G>C	dbSNP gnomAD v4
2	g.72891496G=	CA1260705238	SPR	c.745G= (p.Glu249=) n.690G=
2	g.72891496G>T	CA347232850	SPR	c.745G>T (p.Glu249Ter) n.690G>T	COSMIC
2	g.72891497_72891498insTGA	CA1260705237	SPR	c.746_747insTGA (p.Asp248_Glu249insAsp) n.691_692insTGA	dbSNP
2	g.72891497A>C	CA347232853	SPR	c.746A>C (p.Glu249Ala) n.691A>C
2	g.72891497A>G	CA347232851	SPR	c.746A>G (p.Glu249Gly) n.691A>G
2	g.72891497A>T	CA347232852	SPR	c.746A>T (p.Glu249Val) n.691A>T
2	g.72891497_72891507delinsAGTTCAAGTCT	CA1260705239	SPR	c.746_756delinsAGTTCAAGTCT (p.Glu249=) n.691_701delinsAGTTCAAGTCT
2	g.72891498G>A	CA426703697	SPR	c.747G>A (p.Glu249=) n.692G>A	gnomAD v4
2	g.72891498G>C	CA347232854	SPR	c.747G>C (p.Glu249Asp) n.692G>C
2	g.72891498G>T	CA347232855	SPR	c.747G>T (p.Glu249Asp) n.692G>T
2	g.72891499_72891508del	CA1032173982	SPR	c.748_757del (p.Phe250GlufsTer17) n.693_702del	dbSNP gnomAD v3 gnomAD v4
2	g.72891499T>A	CA347232856	SPR	c.748T>A (p.Phe250Ile) n.693T>A	gnomAD v4
2	g.72891499T>C	CA347232857	SPR	c.748T>C (p.Phe250Leu) n.693T>C	COSMIC
2	g.72891499T>G	CA347232858	SPR	c.748T>G (p.Phe250Val) n.693T>G
2	g.72891500T>A	CA347232859	SPR	c.749T>A (p.Phe250Tyr) n.694T>A	gnomAD v4
2	g.72891500T>C	CA347232860	SPR	c.749T>C (p.Phe250Ser) n.694T>C
2	g.72891500T>G	CA347232861	SPR	c.749T>G (p.Phe250Cys) n.694T>G
2	g.72891501C>A	CA347232862	SPR	c.750C>A (p.Phe250Leu) n.695C>A
2	g.72891501C>G	CA347232863	SPR	c.750C>G (p.Phe250Leu) n.695C>G
2	g.72891501C>T	CA426703702	SPR	c.750C>T (p.Phe250=) n.695C>T
2	g.72891502A=	CA1260705240	SPR	c.751A= (p.Lys251=) n.696A=
2	g.72891502A>C	CA347232864	SPR	c.751A>C (p.Lys251Gln) n.696A>C
2	g.72891502A>G	CA347232865	SPR	c.751A>G (p.Lys251Glu) n.696A>G	gnomAD v4
2	g.72891502A>T	CA122795	SPR	c.751A>T (p.Lys251Ter) n.696A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891503A>C	CA347232868	SPR	c.752A>C (p.Lys251Thr) n.697A>C	COSMIC
2	g.72891503A>G	CA347232866	SPR	c.752A>G (p.Lys251Arg) n.697A>G
2	g.72891503A>T	CA347232867	SPR	c.752A>T (p.Lys251Met) n.697A>T
2	g.72891504G>A	CA426703703	SPR	c.753G>A (p.Lys251=) n.698G>A
2	g.72891504G>C	CA347232869	SPR	c.753G>C (p.Lys251Asn) n.698G>C
2	g.72891504G>T	CA347232870	SPR	c.753G>T (p.Lys251Asn) n.698G>T	COSMIC
2	g.72891505T>A	CA347232871	SPR	c.754T>A (p.Ser252Thr) n.699T>A
2	g.72891505T>C	CA347232872	SPR	c.754T>C (p.Ser252Pro) n.699T>C
2	g.72891505T>G	CA347232873	SPR	c.754T>G (p.Ser252Ala) n.699T>G	dbSNP
2	g.72891505T=	CA1260705241	SPR	c.754T= (p.Ser252=) n.699T=
2	g.72891506C>A	CA347232876	SPR	c.755C>A (p.Ser252Tyr) n.700C>A
2	g.72891506C>G	CA347232875	SPR	c.755C>G (p.Ser252Cys) n.700C>G	COSMIC
2	g.72891506C>T	CA347232874	SPR	c.755C>T (p.Ser252Phe) n.700C>T
2	g.72891506_72891508delinsCTG	CA1260705242	SPR	c.755_757delinsCTG (p.Ser252=) n.700_702delinsCTG
2	g.72891507T>A	CA426703709	SPR	c.756T>A (p.Ser252=) n.701T>A
2	g.72891507T>C	CA426703706	SPR	c.756T>C (p.Ser252=) n.701T>C
2	g.72891507T>G	CA426703708	SPR	c.756T>G (p.Ser252=) n.701T>G
2	g.72891507_72891508del	CA49798701	SPR	c.756_757del (p.Gly253SerfsTer7) n.701_702del	dbSNP
2	g.72891508G>A	CA347232877	SPR	c.757G>A (p.Gly253Arg) n.702G>A	ClinVar dbSNP
2	g.72891508G>C	CA347232878	SPR	c.757G>C (p.Gly253Arg) n.702G>C
2	g.72891508G=	CA1260705243	SPR	c.757G= (p.Gly253=) n.702G=
2	g.72891508G>T	CA347232879	SPR	c.757G>T (p.Gly253Ter) n.702G>T
2	g.72891509G>A	CA347232880	SPR	c.758G>A (p.Gly253Glu) n.703G>A
2	g.72891509G>C	CA347232881	SPR	c.758G>C (p.Gly253Ala) n.703G>C
2	g.72891509G>T	CA347232882	SPR	c.758G>T (p.Gly253Val) n.703G>T
2	g.72891510A>C	CA426703711	SPR	c.759A>C (p.Gly253=) n.704A>C
2	g.72891510A>G	CA426703712	SPR	c.759A>G (p.Gly253=) n.704A>G
2	g.72891510A>T	CA426703713	SPR	c.759A>T (p.Gly253=) n.704A>T
2	g.72891511G>A	CA347232885	SPR	c.760G>A (p.Ala254Thr) n.705G>A
2	g.72891511G>C	CA347232883	SPR	c.760G>C (p.Ala254Pro) n.705G>C	gnomAD v4
2	g.72891511G>T	CA347232884	SPR	c.760G>T (p.Ala254Ser) n.705G>T
2	g.72891512C>A	CA347232886	SPR	c.761C>A (p.Ala254Asp) n.706C>A
2	g.72891512C>G	CA347232887	SPR	c.761C>G (p.Ala254Gly) n.706C>G
2	g.72891512C>T	CA347232888	SPR	c.761C>T (p.Ala254Val) n.706C>T
2	g.72891514del	CA2577002021	SPR	c.763del (p.His255ThrfsTer15) n.708del
2	g.72891513C>A	CA426703719	SPR	c.762C>A (p.Ala254=) n.707C>A	gnomAD v4
2	g.72891513C>G	CA426703717	SPR	c.762C>G (p.Ala254=) n.707C>G
2	g.72891513C>T	CA426703718	SPR	c.762C>T (p.Ala254=) n.707C>T	ClinVar
2	g.72891514C>A	CA347232889	SPR	c.763C>A (p.His255Asn) n.708C>A
2	g.72891514C>G	CA347232890	SPR	c.763C>G (p.His255Asp) n.708C>G
2	g.72891514C>T	CA347232891	SPR	c.763C>T (p.His255Tyr) n.708C>T
2	g.72891515A>C	CA347232892	SPR	c.764A>C (p.His255Pro) n.709A>C
2	g.72891515A>G	CA347232893	SPR	c.764A>G (p.His255Arg) n.709A>G
2	g.72891515A>T	CA347232894	SPR	c.764A>T (p.His255Leu) n.709A>T
2	g.72891516C>A	CA347232895	SPR	c.765C>A (p.His255Gln) n.710C>A
2	g.72891516C=	CA1260705244	SPR	c.765C= (p.His255=) n.710C=
2	g.72891516C>G	CA347232896	SPR	c.765C>G (p.His255Gln) n.710C>G	dbSNP gnomAD v2 gnomAD v4
2	g.72891516C>T	CA1709030	SPR	c.765C>T (p.His255=) n.710C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.72891517G>A	CA1709031	SPR	c.766G>A (p.Val256Met) n.711G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891517G>C	CA347232898	SPR	c.766G>C (p.Val256Leu) n.711G>C
2	g.72891517G=	CA1260705245	SPR	c.766G= (p.Val256=) n.711G=
2	g.72891517G>T	CA347232897	SPR	c.766G>T (p.Val256Leu) n.711G>T
2	g.72891518T>A	CA347232899	SPR	c.767T>A (p.Val256Glu) n.712T>A
2	g.72891518T>C	CA347232901	SPR	c.767T>C (p.Val256Ala) n.712T>C
2	g.72891518T>G	CA347232900	SPR	c.767T>G (p.Val256Gly) n.712T>G
2	g.72891519G>A	CA426703724	SPR	c.768G>A (p.Val256=) n.713G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.72891519G>C	CA426703725	SPR	c.768G>C (p.Val256=) n.713G>C
2	g.72891519G=	CA1260705246	SPR	c.768G= (p.Val256=) n.713G=
2	g.72891519G>T	CA426703726	SPR	c.768G>T (p.Val256=) n.713G>T
2	g.72891520G>A	CA347232902	SPR	c.769G>A (p.Asp257Asn) n.714G>A
2	g.72891520G>C	CA49798719	SPR	c.769G>C (p.Asp257His) n.714G>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891520G=	CA1260705247	SPR	c.769G= (p.Asp257=) n.714G=
2	g.72891520G>T	CA347232903	SPR	c.769G>T (p.Asp257Tyr) n.714G>T
2	g.72891521A>C	CA347232904	SPR	c.770A>C (p.Asp257Ala) n.715A>C
2	g.72891521A>G	CA347232905	SPR	c.770A>G (p.Asp257Gly) n.715A>G
2	g.72891521A>T	CA347232906	SPR	c.770A>T (p.Asp257Val) n.715A>T
2	g.72891522C>A	CA347232907	SPR	c.771C>A (p.Asp257Glu) n.716C>A
2	g.72891522C>G	CA347232908	SPR	c.771C>G (p.Asp257Glu) n.716C>G
2	g.72891522C>T	CA426703729	SPR	c.771C>T (p.Asp257=) n.716C>T	gnomAD v4
2	g.72891523T>A	CA347232909	SPR	c.772T>A (p.Phe258Ile) n.717T>A
2	g.72891523T>C	CA347232910	SPR	c.772T>C (p.Phe258Leu) n.717T>C
2	g.72891523T>G	CA347232911	SPR	c.772T>G (p.Phe258Val) n.717T>G
2	g.72891524T>A	CA347232914	SPR	c.773T>A (p.Phe258Tyr) n.718T>A
2	g.72891524T>C	CA347232913	SPR	c.773T>C (p.Phe258Ser) n.718T>C
2	g.72891524T>G	CA347232912	SPR	c.773T>G (p.Phe258Cys) n.718T>G
2	g.72891525C>A	CA347232915	SPR	c.774C>A (p.Phe258Leu) n.719C>A
2	g.72891525C>G	CA347232916	SPR	c.774C>G (p.Phe258Leu) n.719C>G
2	g.72891525C>T	CA426703733	SPR	c.774C>T (p.Phe258=) n.719C>T
2	g.72891526T>A	CA347232917	SPR	c.775T>A (p.Tyr259Asn) n.720T>A
2	g.72891526T>C	CA347232918	SPR	c.775T>C (p.Tyr259His) n.720T>C
2	g.72891526T>G	CA347232919	SPR	c.775T>G (p.Tyr259Asp) n.720T>G
2	g.72891527A=	CA1260705248	SPR	c.776A= (p.Tyr259=) n.721A=
2	g.72891527A>C	CA347232920	SPR	c.776A>C (p.Tyr259Ser) n.721A>C
2	g.72891527A>G	CA1709032	SPR	c.776A>G (p.Tyr259Cys) n.721A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891527A>T	CA347232921	SPR	c.776A>T (p.Tyr259Phe) n.721A>T	gnomAD v4
2	g.72891528T>A	CA347232922	SPR	c.777T>A (p.Tyr259Ter) n.722T>A
2	g.72891528T>C	CA1709033	SPR	c.777T>C (p.Tyr259=) n.722T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891528T>G	CA347232923	SPR	c.777T>G (p.Tyr259Ter) n.722T>G
2	g.72891528T=	CA1260705249	SPR	c.777T= (p.Tyr259=) n.722T=
2	g.72891529G>A	CA347232926	SPR	c.778G>A (p.Asp260Asn) n.723G>A
2	g.72891529G>C	CA347232925	SPR	c.778G>C (p.Asp260His) n.723G>C
2	g.72891529G>T	CA347232924	SPR	c.778G>T (p.Asp260Tyr) n.723G>T
2	g.72891530A=	CA1260705250	SPR	c.779A= (p.Asp260=) n.724A=
2	g.72891530A>C	CA347232927	SPR	c.779A>C (p.Asp260Ala) n.724A>C
2	g.72891530A>G	CA1709034	SPR	c.779A>G (p.Asp260Gly) n.724A>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72891530A>T	CA347232928	SPR	c.779A>T (p.Asp260Val) n.724A>T
2	g.72891531del	CA2577002022	SPR	c.780del (p.Asp260GlufsTer10) n.725del
2	g.72891531C>A	CA347232929	SPR	c.780C>A (p.Asp260Glu) n.725C>A
2	g.72891531C>G	CA347232930	SPR	c.780C>G (p.Asp260Glu) n.725C>G
2	g.72891531C>T	CA426703735	SPR	c.780C>T (p.Asp260=) n.725C>T
2	g.72891531_72891535delinsCAAAT	CA1260705251	SPR	c.780_784delinsCAAAT (p.Asp260=) n.725_729delinsCAAAT
2	g.72891532A>C	CA347232931	SPR	c.781A>C (p.Lys261Gln) n.726A>C
2	g.72891532A>G	CA347232932	SPR	c.781A>G (p.Lys261Glu) n.726A>G
2	g.72891532A>T	CA347232933	SPR	c.781A>T (p.Lys261Ter) n.726A>T
2	g.72891534_72891537del	CA658653749	SPR	c.783_786del (p.Ter262ProextTer7) n.728_731del	ClinVar dbSNP
2	g.72891533A=	CA1260705252	SPR	c.782A= (p.Lys261=) n.727A=
2	g.72891533A>C	CA347232934	SPR	c.782A>C (p.Lys261Thr) n.727A>C
2	g.72891533A>G	CA1709035	SPR	c.782A>G (p.Lys261Arg) n.727A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891533A>T	CA347232935	SPR	c.782A>T (p.Lys261Ile) n.727A>T
2	g.72891534A>C	CA347232936	SPR	c.783A>C (p.Lys261Asn) n.728A>C
2	g.72891534A>G	CA426703736	SPR	c.783A>G (p.Lys261=) n.728A>G
2	g.72891534A>T	CA347232937	SPR	c.783A>T (p.Lys261Asn) n.728A>T
2	g.72891535T>A	CA347232940	SPR	c.784T>A (p.Ter262Lys) n.729T>A
2	g.72891535T>C	CA347232938	SPR	c.784T>C (p.Ter262Gln) n.729T>C
2	g.72891535T>G	CA347232939	SPR	c.784T>G (p.Ter262Glu) n.729T>G
2	g.72891536A=	CA1260705253	SPR	c.785A= (p.Ter262=) n.730A=
2	g.72891536A>C	CA347232941	SPR	c.785A>C (p.Ter262Ser) n.730A>C
2	g.72891536A>G	CA1709036	SPR	c.785A>G (p.Ter262=) n.730A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891536A>T	CA347232942	SPR	c.785A>T (p.Ter262Leu) n.730A>T
2	g.72891537A>C	CA347232943	SPR	c.786A>C (p.Ter262Tyr) n.731A>C
2	g.72891537A>G	CA426703737	SPR	c.786A>G (p.Ter262=) n.731A>G
2	g.72891537A>T	CA347232944	SPR	c.786A>T (p.Ter262Tyr) n.731A>T
2	g.72891538G>A	CA2659569756	SPR	c.1G>A (n.1G>A) n.732G>A	gnomAD v4
2	g.72891538G=	CA1260705254	SPR	c.1G= (n.1G=) n.732G=
2	g.72891538G>T	CA1032174004	SPR	c.1G>T (n.1G>T) n.732G>T	dbSNP gnomAD v3 gnomAD v4
2	g.72891539C=	CA1260705255	SPR	c.2C= (n.2C=) n.733C=
2	g.72891539C>G	CA533656128	SPR	c.2C>G (n.2C>G) n.733C>G	dbSNP gnomAD v2 gnomAD v4
2	g.72891541dup	CA49798765	SPR	c.4dup (n.4dup) n.735dup	dbSNP
2	g.72891540C=	CA1260705256	SPR	c.3C= (n.3C=) n.734C=
2	g.72891540C>T	CA892793318	SPR	c.3C>T (n.3C>T) n.734C>T	dbSNP gnomAD v3 gnomAD v4
2	g.72891542A>G	CA2659569757	SPR	c.5A>G (n.5A>G) n.736A>G	gnomAD v4
2	g.72891543T>C	CA49798767	SPR	c.6T>C (n.6T>C) n.737T>C	dbSNP gnomAD v3 gnomAD v4
2	g.72891543T=	CA1260705257	SPR	c.6T= (n.6T=) n.737T=
2	g.72891544G=	CA1260705258	SPR	c.7G= (n.7G=) n.738G=
2	g.72891545T>A	CA1709038	SPR	c.8T>A (n.8T>A) n.739T>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72891545T=	CA1260705259	SPR	c.8T= (n.8T=) n.739T=
2	g.72891549dup	CA1709037	SPR	c.12dup (n.12dup) n.743dup	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891549del	CA2577002023	SPR	c.12del (n.12del) n.743del	gnomAD v4
2	g.72891546T>G	CA533656129	SPR	c.9T>G (n.9T>G) n.740T>G	dbSNP gnomAD v2 gnomAD v4
2	g.72891546T=	CA1260705260	SPR	c.9T= (n.9T=) n.740T=
2	g.72891549T>C	CA533656130	SPR	c.12T>C (n.12T>C) n.743T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891549T>G	CA2659569758	SPR	c.12T>G (n.12T>G) n.743T>G	gnomAD v4
2	g.72891549T=	CA1260705261	SPR	c.12T= (n.12T=) n.743T=
2	g.72891551G>C	CA2659569759	SPR	c.14G>C (n.14G>C) n.745G>C	gnomAD v4
2	g.72891553T>C	CA2659569760	SPR	c.16T>C (n.16T>C) n.747T>C	gnomAD v4
2	g.72891554T>C	CA2659569761	SPR	c.17T>C (n.17T>C) n.748T>C	gnomAD v4
2	g.72891555C=	CA1260705262	SPR	c.18C= (n.18C=) n.749C=
2	g.72891555C>G	CA533656131	SPR	c.18C>G (n.18C>G) n.749C>G	dbSNP gnomAD v2 gnomAD v4
2	g.72891555C>T	CA2659569762	SPR	c.18C>T (n.18C>T) n.749C>T	gnomAD v4
2	g.72891561C>A	CA533656132	SPR	c.24C>A (n.24C>A) n.755C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.72891561C=	CA1260705263	SPR	c.24C= (n.24C=) n.755C=
2	g.72891561C>T	CA1709039	SPR	c.24C>T (n.24C>T) n.755C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.72891562C=	CA1260705264	SPR	c.25C= (n.25C=) n.756C=
2	g.72891562C>T	CA1709040	SPR	c.25C>T (n.25C>T) n.756C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched