Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.49457695G>A	CA364403599	MMUT	c.749C>T (p.Ala250Val)
6	g.49457695G>C	CA364403596	MMUT	c.749C>G (p.Ala250Gly)
6	g.49457695G>T	CA364403587	MMUT	c.749C>A (p.Ala250Glu)
6	g.49457696C>A	CA364403603	MMUT	c.748G>T (p.Ala250Ser)
6	g.49457696C=	CA1627392058	MMUT	c.748G= (p.Ala250=)
6	g.49457696C>G	CA364403604	MMUT	c.748G>C (p.Ala250Pro)
6	g.49457696C>T	CA364403605	MMUT	c.748G>A (p.Ala250Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.49457697T>A	CA450608735	MMUT	c.747A>T (p.Thr249=)
6	g.49457697T>C	CA450608736	MMUT	c.747A>G (p.Thr249=)	gnomAD v4
6	g.49457697T>G	CA450608737	MMUT	c.747A>C (p.Thr249=)	dbSNP
6	g.49457697T=	CA1627392059	MMUT	c.747A= (p.Thr249=)
6	g.49457698G>A	CA3847057	MMUT	c.746C>T (p.Thr249Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457698G>C	CA364403606	MMUT	c.746C>G (p.Thr249Arg)
6	g.49457698G=	CA1627392060	MMUT	c.746C= (p.Thr249=)
6	g.49457698G>T	CA364403607	MMUT	c.746C>A (p.Thr249Lys)
6	g.49457699T>A	CA364403610	MMUT	c.745A>T (p.Thr249Ser)
6	g.49457699T>C	CA364403619	MMUT	c.745A>G (p.Thr249Ala)	dbSNP
6	g.49457699T>G	CA364403617	MMUT	c.745A>C (p.Thr249Pro)
6	g.49457700A=	CA1627392061	MMUT	c.744T= (p.Tyr248=)
6	g.49457700A>C	CA364403622	MMUT	c.744T>G (p.Tyr248Ter)
6	g.49457700A>G	CA3847058	MMUT	c.744T>C (p.Tyr248=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.49457700A>T	CA364403628	MMUT	c.744T>A (p.Tyr248Ter)
6	g.49457701T>A	CA364403641	MMUT	c.743A>T (p.Tyr248Phe)
6	g.49457701T>C	CA3847059	MMUT	c.743A>G (p.Tyr248Cys)	ClinVar dbSNP ExAC
6	g.49457701T>G	CA364403646	MMUT	c.743A>C (p.Tyr248Ser)	gnomAD v4
6	g.49457701T=	CA1627392062	MMUT	c.743A= (p.Tyr248=)
6	g.49457702A=	CA1627392063	MMUT	c.742T= (p.Tyr248=)
6	g.49457702A>C	CA364403650	MMUT	c.742T>G (p.Tyr248Asp)
6	g.49457702A>G	CA364403652	MMUT	c.742T>C (p.Tyr248His)	dbSNP gnomAD v2 gnomAD v4
6	g.49457702A>T	CA364403658	MMUT	c.742T>A (p.Tyr248Asn)
6	g.49457703T>A	CA364403663	MMUT	c.741A>T (p.Glu247Asp)
6	g.49457703T>C	CA450608738	MMUT	c.741A>G (p.Glu247=)
6	g.49457703T>G	CA364403666	MMUT	c.741A>C (p.Glu247Asp)
6	g.49457704T>A	CA364403678	MMUT	c.740A>T (p.Glu247Val)
6	g.49457704T>C	CA364403696	MMUT	c.740A>G (p.Glu247Gly)
6	g.49457704T>G	CA364403684	MMUT	c.740A>C (p.Glu247Ala)
6	g.49457705C>A	CA364403701	MMUT	c.739G>T (p.Glu247Ter)	gnomAD v4
6	g.49457705C>G	CA364403702	MMUT	c.739G>C (p.Glu247Gln)
6	g.49457705C>T	CA364403703	MMUT	c.739G>A (p.Glu247Lys)
6	g.49457706A=	CA1627392064	MMUT	c.738T= (p.Phe246=)
6	g.49457706A>C	CA364403704	MMUT	c.738T>G (p.Phe246Leu)
6	g.49457706A>G	CA450608739	MMUT	c.738T>C (p.Phe246=)
6	g.49457706A>T	CA3847060	MMUT	c.738T>A (p.Phe246Leu)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.49457707A>C	CA364403709	MMUT	c.737T>G (p.Phe246Cys)
6	g.49457707A>G	CA364403712	MMUT	c.737T>C (p.Phe246Ser)
6	g.49457707A>T	CA364403715	MMUT	c.737T>A (p.Phe246Tyr)
6	g.49457707_49457709delinsAAT	CA1627392065	MMUT	c.735_737delinsATT (p.Ile245=)
6	g.49457708A>C	CA364403718	MMUT	c.736T>G (p.Phe246Val)
6	g.49457708A>G	CA364403722	MMUT	c.736T>C (p.Phe246Leu)
6	g.49457708A>T	CA364403724	MMUT	c.736T>A (p.Phe246Ile)
6	g.49457710_49457711del	CA3847061	MMUT	c.735_736del (p.Phe246Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457709T>A	CA450608740	MMUT	c.735A>T (p.Ile245=)
6	g.49457709T>C	CA3847062	MMUT	c.735A>G (p.Ile245Met)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457709T>G	CA450608741	MMUT	c.735A>C (p.Ile245=)	dbSNP
6	g.49457709T=	CA1627392066	MMUT	c.735A= (p.Ile245=)
6	g.49457710A=	CA1627392067	MMUT	c.734T= (p.Ile245=)
6	g.49457710A>C	CA364403732	MMUT	c.734T>G (p.Ile245Arg)
6	g.49457710A>G	CA364403739	MMUT	c.734T>C (p.Ile245Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.49457710A>T	CA364403736	MMUT	c.734T>A (p.Ile245Lys)
6	g.49457711T>A	CA364403742	MMUT	c.733A>T (p.Ile245Leu)
6	g.49457711T>C	CA3847063	MMUT	c.733A>G (p.Ile245Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457711T>G	CA364403753	MMUT	c.733A>C (p.Ile245Leu)
6	g.49457711T=	CA1627392068	MMUT	c.733A= (p.Ile245=)
6	g.49457712G>A	CA450608742	MMUT	c.732C>T (p.Asp244=)
6	g.49457712G>C	CA364403757	MMUT	c.732C>G (p.Asp244Glu)
6	g.49457712G>T	CA364403759	MMUT	c.732C>A (p.Asp244Glu)
6	g.49457713T>A	CA364403763	MMUT	c.731A>T (p.Asp244Val)
6	g.49457713T>C	CA364403765	MMUT	c.731A>G (p.Asp244Gly)
6	g.49457713T>G	CA364403767	MMUT	c.731A>C (p.Asp244Ala)
6	g.49457713_49457714insAA	CA450608743	MMUT	c.730_731insTT (p.Asp244ValfsTer?)
6	g.49457714del	CA2770993502	MMUT	c.730del (p.Asp244ThrfsTer?)
6	g.49457714C>A	CA364403769	MMUT	c.730G>T (p.Asp244Tyr)
6	g.49457714C=	CA1627392069	MMUT	c.730G= (p.Asp244=)
6	g.49457714C>G	CA3847065	MMUT	c.730G>C (p.Asp244His)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457714C>T	CA364403772	MMUT	c.730G>A (p.Asp244Asn)
6	g.49457715A>C	CA450608746	MMUT	c.729T>G (p.Ala243=)
6	g.49457715A>G	CA450608745	MMUT	c.729T>C (p.Ala243=)
6	g.49457715A>T	CA450608744	MMUT	c.729T>A (p.Ala243=)
6	g.49457715_49457716insAA	CA3847064	MMUT	c.729_730insTT (p.Asp244LeufsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457716G>A	CA364403776	MMUT	c.728C>T (p.Ala243Val)	gnomAD v4
6	g.49457716G>C	CA364403775	MMUT	c.728C>G (p.Ala243Gly)
6	g.49457716G>T	CA364403777	MMUT	c.728C>A (p.Ala243Asp)
6	g.49457717C>A	CA364403778	MMUT	c.727G>T (p.Ala243Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457717C=	CA1627392070	MMUT	c.727G= (p.Ala243=)
6	g.49457717C>G	CA364403779	MMUT	c.727G>C (p.Ala243Pro)
6	g.49457717C>T	CA364403782	MMUT	c.727G>A (p.Ala243Thr)
6	g.49457718A=	CA1627392071	MMUT	c.726T= (p.Ile242=)
6	g.49457718A>C	CA364403785	MMUT	c.726T>G (p.Ile242Met)
6	g.49457718A>G	CA3847066	MMUT	c.726T>C (p.Ile242=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457718A>T	CA450608747	MMUT	c.726T>A (p.Ile242=)
6	g.49457719del	CA2739273134	MMUT	c.726del (p.Ile242MetfsTer?)	ClinVar
6	g.49457719A>C	CA364403792	MMUT	c.725T>G (p.Ile242Ser)
6	g.49457719A>G	CA364403793	MMUT	c.725T>C (p.Ile242Thr)
6	g.49457719A>T	CA364403796	MMUT	c.725T>A (p.Ile242Asn)
6	g.49457720T>A	CA364403801	MMUT	c.724A>T (p.Ile242Phe)
6	g.49457720T>C	CA364403811	MMUT	c.724A>G (p.Ile242Val)
6	g.49457720T>G	CA364403813	MMUT	c.724A>C (p.Ile242Leu)
6	g.49457721A>C	CA364403815	MMUT	c.723T>G (p.Ile241Met)
6	g.49457721A>G	CA450608748	MMUT	c.723T>C (p.Ile241=)
6	g.49457721A>T	CA450608749	MMUT	c.723T>A (p.Ile241=)
6	g.49457722A>C	CA364403825	MMUT	c.722T>G (p.Ile241Ser)
6	g.49457722A>G	CA364403818	MMUT	c.722T>C (p.Ile241Thr)
6	g.49457722A>T	CA364403822	MMUT	c.722T>A (p.Ile241Asn)
6	g.49457723T>A	CA364403831	MMUT	c.721A>T (p.Ile241Phe)
6	g.49457723T>C	CA3847067	MMUT	c.721A>G (p.Ile241Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457723T>G	CA364403834	MMUT	c.721A>C (p.Ile241Leu)
6	g.49457723T=	CA1627392072	MMUT	c.721A= (p.Ile241=)
6	g.49457726dup	CA450608750	MMUT	c.721dup (p.Ile241AsnfsTer4)
6	g.49457724T>A	CA364403838	MMUT	c.720A>T (p.Lys240Asn)
6	g.49457724T>C	CA450608751	MMUT	c.720A>G (p.Lys240=)
6	g.49457724T>G	CA364403844	MMUT	c.720A>C (p.Lys240Asn)
6	g.49457725T>A	CA364403847	MMUT	c.719A>T (p.Lys240Ile)	gnomAD v4
6	g.49457725T>C	CA364403850	MMUT	c.719A>G (p.Lys240Arg)
6	g.49457725T>G	CA364403852	MMUT	c.719A>C (p.Lys240Thr)
6	g.49457726T>A	CA364403855	MMUT	c.718A>T (p.Lys240Ter)
6	g.49457726T>C	CA138799490	MMUT	c.718A>G (p.Lys240Glu)	dbSNP gnomAD v4
6	g.49457726T>G	CA364403858	MMUT	c.718A>C (p.Lys240Gln)
6	g.49457726T=	CA1627392073	MMUT	c.718A= (p.Lys240=)
6	g.49457726_49457727insAA	CA2695206680	MMUT	c.717_718insTT (p.Lys240LeufsTer?)
6	g.49457727C>A	CA364403884	MMUT	c.717G>T (p.Met239Ile)
6	g.49457727C>G	CA364403880	MMUT	c.717G>C (p.Met239Ile)
6	g.49457727C>T	CA364403868	MMUT	c.717G>A (p.Met239Ile)
6	g.49457728A>C	CA364403896	MMUT	c.716T>G (p.Met239Arg)
6	g.49457728A>G	CA364403904	MMUT	c.716T>C (p.Met239Thr)
6	g.49457728A>T	CA364403906	MMUT	c.716T>A (p.Met239Lys)
6	g.49457732_49457735del	CA2679046695	MMUT	c.713_716del (p.Ser238Ter)	gnomAD v4
6	g.49457729T>A	CA364403910	MMUT	c.715A>T (p.Met239Leu)
6	g.49457729T>C	CA138799498	MMUT	c.715A>G (p.Met239Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457729T>G	CA364403911	MMUT	c.715A>C (p.Met239Leu)
6	g.49457729T=	CA1627392074	MMUT	c.715A= (p.Met239=)
6	g.49457730G>A	CA450608753	MMUT	c.714C>T (p.Ser238=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
6	g.49457730G>C	CA450608754	MMUT	c.714C>G (p.Ser238=)	ClinVar dbSNP
6	g.49457730G=	CA1627392075	MMUT	c.714C= (p.Ser238=)
6	g.49457730G>T	CA450608752	MMUT	c.714C>A (p.Ser238=)
6	g.49457731G>A	CA364403913	MMUT	c.713C>T (p.Ser238Phe)
6	g.49457731G>C	CA364403915	MMUT	c.713C>G (p.Ser238Cys)
6	g.49457731G=	CA1627392076	MMUT	c.713C= (p.Ser238=)
6	g.49457731G>T	CA364403917	MMUT	c.713C>A (p.Ser238Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457732A=	CA1627392077	MMUT	c.712T= (p.Ser238=)
6	g.49457732A>C	CA364403920	MMUT	c.712T>G (p.Ser238Ala)
6	g.49457732A>G	CA138799507	MMUT	c.712T>C (p.Ser238Pro)	dbSNP
6	g.49457732A>T	CA364403923	MMUT	c.712T>A (p.Ser238Thr)
6	g.49457733T>A	CA450608756	MMUT	c.711A>T (p.Pro237=)
6	g.49457733T>C	CA312760	MMUT	c.711A>G (p.Pro237=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457733T>G	CA450608755	MMUT	c.711A>C (p.Pro237=)
6	g.49457733T=	CA1627392078	MMUT	c.711A= (p.Pro237=)
6	g.49457734G>A	CA364403932	MMUT	c.710C>T (p.Pro237Leu)
6	g.49457734G>C	CA364403927	MMUT	c.710C>G (p.Pro237Arg)
6	g.49457734G>T	CA364403929	MMUT	c.710C>A (p.Pro237Gln)	gnomAD v4
6	g.49457735G>A	CA364403934	MMUT	c.709C>T (p.Pro237Ser)	dbSNP
6	g.49457735G>C	CA364403935	MMUT	c.709C>G (p.Pro237Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.49457735G=	CA1627392079	MMUT	c.709C= (p.Pro237=)
6	g.49457735G>T	CA364403938	MMUT	c.709C>A (p.Pro237Thr)
6	g.49457736T>A	CA364403940	MMUT	c.708A>T (p.Glu236Asp)	dbSNP
6	g.49457736T>C	CA450608757	MMUT	c.708A>G (p.Glu236=)	gnomAD v4
6	g.49457736T>G	CA364403941	MMUT	c.708A>C (p.Glu236Asp)	dbSNP
6	g.49457736T=	CA1627392080	MMUT	c.708A= (p.Glu236=)
6	g.49457737T>A	CA364403943	MMUT	c.707A>T (p.Glu236Val)
6	g.49457737T>C	CA364403945	MMUT	c.707A>G (p.Glu236Gly)
6	g.49457737T>G	CA364403950	MMUT	c.707A>C (p.Glu236Ala)
6	g.49457738C>A	CA364403951	MMUT	c.706G>T (p.Glu236Ter)	ClinVar dbSNP
6	g.49457738C=	CA1627392081	MMUT	c.706G= (p.Glu236=)
6	g.49457738C>G	CA364403953	MMUT	c.706G>C (p.Glu236Gln)
6	g.49457738C>T	CA364403959	MMUT	c.706G>A (p.Glu236Lys)	gnomAD v4
6	g.49457739T>A	CA450608758	MMUT	c.705A>T (p.Pro235=)
6	g.49457739T>C	CA138799525	MMUT	c.705A>G (p.Pro235=)	dbSNP
6	g.49457739T>G	CA450608759	MMUT	c.705A>C (p.Pro235=)
6	g.49457739T=	CA1627392082	MMUT	c.705A= (p.Pro235=)
6	g.49457740G>A	CA364403965	MMUT	c.704C>T (p.Pro235Leu)	dbSNP gnomAD v2 gnomAD v4
6	g.49457740G>C	CA364403962	MMUT	c.704C>G (p.Pro235Arg)
6	g.49457740G=	CA1627392083	MMUT	c.704C= (p.Pro235=)
6	g.49457740G>T	CA364403960	MMUT	c.704C>A (p.Pro235Gln)
6	g.49457741G>A	CA364403974	MMUT	c.703C>T (p.Pro235Ser)	dbSNP
6	g.49457741G>C	CA364403981	MMUT	c.703C>G (p.Pro235Ala)	gnomAD v4
6	g.49457741G=	CA1627392084	MMUT	c.703C= (p.Pro235=)
6	g.49457741G>T	CA364403983	MMUT	c.703C>A (p.Pro235Thr)
6	g.49457742A>C	CA450608760	MMUT	c.702T>G (p.Pro234=)
6	g.49457742A>G	CA450608762	MMUT	c.702T>C (p.Pro234=)
6	g.49457742A>T	CA450608761	MMUT	c.702T>A (p.Pro234=)
6	g.49457743G>A	CA364403985	MMUT	c.701C>T (p.Pro234Leu)
6	g.49457743G>C	CA364403988	MMUT	c.701C>G (p.Pro234Arg)
6	g.49457743G>T	CA364403990	MMUT	c.701C>A (p.Pro234His)
6	g.49457744G>A	CA364404008	MMUT	c.700C>T (p.Pro234Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.49457744G>C	CA364403995	MMUT	c.700C>G (p.Pro234Ala)
6	g.49457744G=	CA1627392085	MMUT	c.700C= (p.Pro234=)
6	g.49457744G>T	CA364403998	MMUT	c.700C>A (p.Pro234Thr)
6	g.49457744_49457750delinsAAAAAAG	CA915944262	MMUT	c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)	ClinVar dbSNP
6	g.49457744_49457750delinsGAAAAAT	CA1627392086	MMUT	c.694_700delinsATTTTTC (p.Ile232=)
6	g.49457745A=	CA1627392087	MMUT	c.699T= (p.Phe233=)
6	g.49457745A>C	CA364404013	MMUT	c.699T>G (p.Phe233Leu)
6	g.49457745A>G	CA450608763	MMUT	c.699T>C (p.Phe233=)	dbSNP
6	g.49457745A>T	CA364404015	MMUT	c.699T>A (p.Phe233Leu)
6	g.49457749dup	CA2578675207	MMUT	c.699dup (p.Pro234SerfsTer11)
6	g.49457746A>C	CA364404017	MMUT	c.698T>G (p.Phe233Cys)
6	g.49457746A>G	CA364404018	MMUT	c.698T>C (p.Phe233Ser)
6	g.49457746A>T	CA364404027	MMUT	c.698T>A (p.Phe233Tyr)
6	g.49457747A>C	CA364404031	MMUT	c.697T>G (p.Phe233Val)
6	g.49457747A>G	CA364404029	MMUT	c.697T>C (p.Phe233Leu)
6	g.49457747A>T	CA364404030	MMUT	c.697T>A (p.Phe233Ile)
6	g.49457748A>C	CA364404032	MMUT	c.696T>G (p.Ile232Met)
6	g.49457748A>G	CA450608764	MMUT	c.696T>C (p.Ile232=)
6	g.49457748A>T	CA450608765	MMUT	c.696T>A (p.Ile232=)
6	g.49457749A>C	CA364404034	MMUT	c.695T>G (p.Ile232Ser)
6	g.49457749A>G	CA364404037	MMUT	c.695T>C (p.Ile232Thr)	gnomAD v4
6	g.49457749A>T	CA364404044	MMUT	c.695T>A (p.Ile232Asn)
6	g.49457750T>A	CA364404048	MMUT	c.694A>T (p.Ile232Phe)	ClinVar dbSNP
6	g.49457750T>C	CA364404049	MMUT	c.694A>G (p.Ile232Val)	dbSNP
6	g.49457750T>G	CA364404050	MMUT	c.694A>C (p.Ile232Leu)	dbSNP gnomAD v2 gnomAD v4
6	g.49457750T=	CA1627392088	MMUT	c.694A= (p.Ile232=)
6	g.49457750dup	CA2695206681	MMUT	c.694dup (p.Ile232AsnfsTer13)
6	g.49457751_49457752del	CA2695206682	MMUT	c.693_694del (p.Ile232PhefsTer12)
6	g.49457751del	CA2695206683	MMUT	c.693del (p.Tyr231Ter)
6	g.49457751G>A	CA450608766	MMUT	c.693C>T (p.Tyr231=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.49457751G>C	CA10575877	MMUT	c.693C>G (p.Tyr231Ter)	ClinVar dbSNP
6	g.49457751G=	CA1627392089	MMUT	c.693C= (p.Tyr231=)
6	g.49457751G>T	CA364404051	MMUT	c.693C>A (p.Tyr231Ter)
6	g.49457752T>A	CA364404054	MMUT	c.692A>T (p.Tyr231Phe)	gnomAD v4
6	g.49457752T>C	CA364404062	MMUT	c.692A>G (p.Tyr231Cys)	dbSNP
6	g.49457752T>G	CA364404065	MMUT	c.692A>C (p.Tyr231Ser)	dbSNP
6	g.49457752T=	CA1627392090	MMUT	c.692A= (p.Tyr231=)
6	g.49457752dup	CA3847068	MMUT	c.692dup (p.Tyr231Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457753A=	CA1627392091	MMUT	c.691T= (p.Tyr231=)
6	g.49457753A>C	CA364404070	MMUT	c.691T>G (p.Tyr231Asp)
6	g.49457753A>G	CA364404073	MMUT	c.691T>C (p.Tyr231His)
6	g.49457753A>T	CA347881	MMUT	c.691T>A (p.Tyr231Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.49457754T>A	CA450608767	MMUT	c.690A>T (p.Thr230=)	dbSNP
6	g.49457754T>C	CA450608768	MMUT	c.690A>G (p.Thr230=)	ClinVar gnomAD v4 COSMIC
6	g.49457754T>G	CA450608769	MMUT	c.690A>C (p.Thr230=)
6	g.49457754T=	CA1627392092	MMUT	c.690A= (p.Thr230=)
6	g.49457755_49457756del	CA2499218332	MMUT	c.689_690del (p.Thr230IlefsTer14)	ClinVar dbSNP
6	g.49457755G>A	CA364404076	MMUT	c.689C>T (p.Thr230Ile)	ClinVar dbSNP
6	g.49457755G>C	CA10575878	MMUT	c.689C>G (p.Thr230Arg)	ClinVar dbSNP gnomAD v4
6	g.49457755G=	CA1627392093	MMUT	c.689C= (p.Thr230=)
6	g.49457755G>T	CA364404077	MMUT	c.689C>A (p.Thr230Lys)	COSMIC
6	g.49457756T>A	CA364404079	MMUT	c.688A>T (p.Thr230Ser)
6	g.49457756T>C	CA364404082	MMUT	c.688A>G (p.Thr230Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.49457756T>G	CA364404085	MMUT	c.688A>C (p.Thr230Pro)
6	g.49457756T=	CA1627392094	MMUT	c.688A= (p.Thr230=)
6	g.49457757A=	CA1627392095	MMUT	c.687T= (p.Asn229=)
6	g.49457757A>C	CA364404089	MMUT	c.687T>G (p.Asn229Lys)
6	g.49457757A>G	CA3847069	MMUT	c.687T>C (p.Asn229=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457757A>T	CA364404104	MMUT	c.687T>A (p.Asn229Lys)	gnomAD v4
6	g.49457758T>A	CA364404107	MMUT	c.686A>T (p.Asn229Ile)
6	g.49457758T>C	CA364404110	MMUT	c.686A>G (p.Asn229Ser)
6	g.49457758T>G	CA364404113	MMUT	c.686A>C (p.Asn229Thr)
6	g.49457759T>A	CA364404116	MMUT	c.685A>T (p.Asn229Tyr)
6	g.49457759T>C	CA364404114	MMUT	c.685A>G (p.Asn229Asp)
6	g.49457759T>G	CA364404115	MMUT	c.685A>C (p.Asn229His)
6	g.49457760T>A	CA450608770	MMUT	c.684A>T (p.Arg228=)
6	g.49457760T>C	CA450608771	MMUT	c.684A>G (p.Arg228=)
6	g.49457760T>G	CA450608772	MMUT	c.684A>C (p.Arg228=)
6	g.49457761C>A	CA3847071	MMUT	c.683G>T (p.Arg228Leu)	dbSNP ExAC gnomAD v2
6	g.49457761C=	CA1627392096	MMUT	c.683G= (p.Arg228=)
6	g.49457761C>G	CA364404118	MMUT	c.683G>C (p.Arg228Pro)
6	g.49457761C>T	CA3847070	MMUT	c.683G>A (p.Arg228Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457762G>A	CA312778	MMUT	c.682C>T (p.Arg228Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457762G>C	CA364404123	MMUT	c.682C>G (p.Arg228Gly)
6	g.49457762G=	CA1627392097	MMUT	c.682C= (p.Arg228=)
6	g.49457762G>T	CA450608773	MMUT	c.682C>A (p.Arg228=)
6	g.49457763A=	CA1627392098	MMUT	c.681T= (p.Val227=)
6	g.49457763A>C	CA450608774	MMUT	c.681T>G (p.Val227=)	dbSNP gnomAD v2 gnomAD v4
6	g.49457763A>G	CA450608776	MMUT	c.681T>C (p.Val227=)
6	g.49457763A>T	CA450608775	MMUT	c.681T>A (p.Val227=)
6	g.49457764A>C	CA364404127	MMUT	c.680T>G (p.Val227Gly)
6	g.49457764A>G	CA364404129	MMUT	c.680T>C (p.Val227Ala)
6	g.49457764A>T	CA364404131	MMUT	c.680T>A (p.Val227Asp)
6	g.49457765C>A	CA364404135	MMUT	c.679G>T (p.Val227Phe)
6	g.49457765C=	CA1627392099	MMUT	c.679G= (p.Val227=)
6	g.49457765C>G	CA364404137	MMUT	c.679G>C (p.Val227Leu)
6	g.49457765C>T	CA364404139	MMUT	c.679G>A (p.Val227Ile)
6	g.49457766dup	CA913110644	MMUT	c.679dup (p.Val227GlyfsTer18)
6	g.49457766C>A	CA3847073	MMUT	c.678G>T (p.Met226Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457766C=	CA1627392100	MMUT	c.678G= (p.Met226=)
6	g.49457766C>G	CA364404144	MMUT	c.678G>C (p.Met226Ile)
6	g.49457766C>T	CA364404142	MMUT	c.678G>A (p.Met226Ile)	dbSNP gnomAD v3 gnomAD v4
6	g.49457767_49457774dup	CA3847072	MMUT	c.671_678dup (p.Val227AsnfsTer16)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457767A>C	CA364404148	MMUT	c.677T>G (p.Met226Arg)
6	g.49457767A>G	CA364404150	MMUT	c.677T>C (p.Met226Thr)
6	g.49457767A>T	CA364404153	MMUT	c.677T>A (p.Met226Lys)
6	g.49457768T>A	CA364404156	MMUT	c.676A>T (p.Met226Leu)	dbSNP
6	g.49457768T>C	CA3847074	MMUT	c.676A>G (p.Met226Val)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.49457768T>G	CA364404161	MMUT	c.676A>C (p.Met226Leu)
6	g.49457768T=	CA1627392101	MMUT	c.676A= (p.Met226=)
6	g.49457769A=	CA1627392102	MMUT	c.675T= (p.Phe225=)
6	g.49457769A>C	CA364404164	MMUT	c.675T>G (p.Phe225Leu)
6	g.49457769A>G	CA450608777	MMUT	c.675T>C (p.Phe225=)
6	g.49457769A>T	CA364404167	MMUT	c.675T>A (p.Phe225Leu)
6	g.49457771dup	CA913110645	MMUT	c.675dup (p.Met226TyrfsTer19)
6	g.49457770A>C	CA364404170	MMUT	c.674T>G (p.Phe225Cys)
6	g.49457770A>G	CA364404172	MMUT	c.674T>C (p.Phe225Ser)
6	g.49457770A>T	CA364404175	MMUT	c.674T>A (p.Phe225Tyr)
6	g.49457770_49457775dup	CA658823264	MMUT	c.669_674dup (p.Glu224_Phe225insLeuGlu)	ClinVar dbSNP
6	g.49457771A>C	CA364404176	MMUT	c.673T>G (p.Phe225Val)
6	g.49457771A>G	CA364404177	MMUT	c.673T>C (p.Phe225Leu)
6	g.49457771A>T	CA364404178	MMUT	c.673T>A (p.Phe225Ile)
6	g.49457772T>A	CA364404181	MMUT	c.672A>T (p.Glu224Asp)
6	g.49457772T>C	CA450608778	MMUT	c.672A>G (p.Glu224=)
6	g.49457772T>G	CA364404180	MMUT	c.672A>C (p.Glu224Asp)
6	g.49457773T>A	CA364404184	MMUT	c.671A>T (p.Glu224Val)
6	g.49457773T>C	CA364404187	MMUT	c.671A>G (p.Glu224Gly)
6	g.49457773T>G	CA364404201	MMUT	c.671A>C (p.Glu224Ala)	COSMIC
6	g.49457774C>A	CA364404204	MMUT	c.670G>T (p.Glu224Ter)	ClinVar dbSNP gnomAD v4
6	g.49457774C=	CA1627392103	MMUT	c.670G= (p.Glu224=)
6	g.49457774C>G	CA364404207	MMUT	c.670G>C (p.Glu224Gln)
6	g.49457774C>T	CA364404209	MMUT	c.670G>A (p.Glu224Lys)	ClinVar dbSNP gnomAD v4
6	g.49457775C>A	CA364404216	MMUT	c.669G>T (p.Lys223Asn)
6	g.49457775C>G	CA364404212	MMUT	c.669G>C (p.Lys223Asn)
6	g.49457775C>T	CA450608779	MMUT	c.669G>A (p.Lys223=)	ClinVar gnomAD v4
6	g.49457776T>A	CA364404219	MMUT	c.668A>T (p.Lys223Met)
6	g.49457776T>C	CA364404220	MMUT	c.668A>G (p.Lys223Arg)
6	g.49457776T>G	CA364404221	MMUT	c.668A>C (p.Lys223Thr)
6	g.49457777T>A	CA364404224	MMUT	c.667A>T (p.Lys223Ter)
6	g.49457777T>C	CA364404226	MMUT	c.667A>G (p.Lys223Glu)
6	g.49457777T>G	CA364404229	MMUT	c.667A>C (p.Lys223Gln)
6	g.49457778T>A	CA450608782	MMUT	c.666A>T (p.Leu222=)
6	g.49457778T>C	CA450608781	MMUT	c.666A>G (p.Leu222=)
6	g.49457778T>G	CA450608780	MMUT	c.666A>C (p.Leu222=)
6	g.49457779A>C	CA364404231	MMUT	c.665T>G (p.Leu222Arg)
6	g.49457779A>G	CA364404235	MMUT	c.665T>C (p.Leu222Pro)
6	g.49457779A>T	CA364404233	MMUT	c.665T>A (p.Leu222Gln)
6	g.49457780G>A	CA450608783	MMUT	c.664C>T (p.Leu222=)	gnomAD v4
6	g.49457780G>C	CA364404237	MMUT	c.664C>G (p.Leu222Val)
6	g.49457780G>T	CA364404239	MMUT	c.664C>A (p.Leu222Ile)
6	g.49457781T>A	CA450608784	MMUT	c.663A>T (p.Ile221=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457781T>C	CA364404241	MMUT	c.663A>G (p.Ile221Met)
6	g.49457781T>G	CA450608785	MMUT	c.663A>C (p.Ile221=)
6	g.49457781T=	CA1627392104	MMUT	c.663A= (p.Ile221=)
6	g.49457782del	CA2695206684	MMUT	c.662del (p.Ile221AsnfsTer2)
6	g.49457782A=	CA1627392105	MMUT	c.662T= (p.Ile221=)
6	g.49457782A>C	CA364404243	MMUT	c.662T>G (p.Ile221Arg)
6	g.49457782A>G	CA364404246	MMUT	c.662T>C (p.Ile221Thr)	dbSNP gnomAD v4
6	g.49457782A>T	CA364404247	MMUT	c.662T>A (p.Ile221Lys)
6	g.49457783T>A	CA364404253	MMUT	c.661A>T (p.Ile221Leu)
6	g.49457783T>C	CA364404250	MMUT	c.661A>G (p.Ile221Val)
6	g.49457783T>G	CA364404252	MMUT	c.661A>C (p.Ile221Leu)
6	g.49457784A=	CA1627392106	MMUT	c.660T= (p.Asp220=)
6	g.49457784A>C	CA364404255	MMUT	c.660T>G (p.Asp220Glu)
6	g.49457784A>G	CA450608786	MMUT	c.660T>C (p.Asp220=)	dbSNP gnomAD v2 gnomAD v4
6	g.49457784A>T	CA364404257	MMUT	c.660T>A (p.Asp220Glu)
6	g.49457785T>A	CA364404259	MMUT	c.659A>T (p.Asp220Val)
6	g.49457785T>C	CA364404261	MMUT	c.659A>G (p.Asp220Gly)
6	g.49457785T>G	CA364404262	MMUT	c.659A>C (p.Asp220Ala)
6	g.49457786C>A	CA364404263	MMUT	c.658G>T (p.Asp220Tyr)	gnomAD v4
6	g.49457786C>G	CA364404265	MMUT	c.658G>C (p.Asp220His)	gnomAD v4
6	g.49457786C>T	CA364404264	MMUT	c.658G>A (p.Asp220Asn)
6	g.49457787A=	CA1627392107	MMUT	c.657T= (p.Asn219=)
6	g.49457787A>C	CA364404266	MMUT	c.657T>G (p.Asn219Lys)
6	g.49457787A>G	CA450608787	MMUT	c.657T>C (p.Asn219=)
6	g.49457787A>T	CA364404267	MMUT	c.657T>A (p.Asn219Lys)
6	g.49457788T>A	CA364404268	MMUT	c.656A>T (p.Asn219Ile)
6	g.49457788T>C	CA138799604	MMUT	c.656A>G (p.Asn219Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457788T>G	CA364404269	MMUT	c.656A>C (p.Asn219Thr)
6	g.49457788T=	CA1627392108	MMUT	c.656A= (p.Asn219=)
6	g.49457791dup	CA3847075	MMUT	c.656dup (p.Asn219LysfsTer2)	dbSNP ExAC gnomAD v2
6	g.49457791del	CA2499218333	MMUT	c.656del (p.Asn219MetfsTer4)	ClinVar dbSNP
6	g.49457789T>A	CA249731	MMUT	c.655A>T (p.Asn219Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457789T>C	CA364404270	MMUT	c.655A>G (p.Asn219Asp)
6	g.49457789T>G	CA364404271	MMUT	c.655A>C (p.Asn219His)
6	g.49457789T=	CA1627392109	MMUT	c.655A= (p.Asn219=)
6	g.49457790T>A	CA364404272	MMUT	c.654A>T (p.Gln218His)
6	g.49457790T>C	CA450608788	MMUT	c.654A>G (p.Gln218=)
6	g.49457790T>G	CA364404273	MMUT	c.654A>C (p.Gln218His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.49457790T=	CA1627395125	MMUT	c.654A= (p.Gln218=)
6	g.49457791T>A	CA364404275	MMUT	c.653A>T (p.Gln218Leu)
6	g.49457791T>C	CA358798	MMUT	c.653A>G (p.Gln218Arg)	ClinVar dbSNP
6	g.49457791T>G	CA364404274	MMUT	c.653A>C (p.Gln218Pro)
6	g.49457791T=	CA1627395138	MMUT	c.653A= (p.Gln218=)
6	g.49457792G>A	CA3847076	MMUT	c.652C>T (p.Gln218Ter)	dbSNP ExAC gnomAD v2
6	g.49457792G>C	CA364404276	MMUT	c.652C>G (p.Gln218Glu)	ClinVar dbSNP
6	g.49457792G=	CA1627395151	MMUT	c.652C= (p.Gln218=)
6	g.49457792G>T	CA364404277	MMUT	c.652C>A (p.Gln218Lys)
6	g.49457793G>A	CA450608789	MMUT	c.651C>T (p.Ile217=)	dbSNP
6	g.49457793G>C	CA364404278	MMUT	c.651C>G (p.Ile217Met)
6	g.49457793G=	CA1627395162	MMUT	c.651C= (p.Ile217=)
6	g.49457793G>T	CA450608790	MMUT	c.651C>A (p.Ile217=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.49457794A=	CA1627395169	MMUT	c.650T= (p.Ile217=)
6	g.49457794A>C	CA364404279	MMUT	c.650T>G (p.Ile217Ser)
6	g.49457794A>G	CA364404280	MMUT	c.650T>C (p.Ile217Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.49457794A>T	CA364404281	MMUT	c.650T>A (p.Ile217Asn)
6	g.49457795T>A	CA364404282	MMUT	c.649A>T (p.Ile217Phe)
6	g.49457795T>C	CA364404283	MMUT	c.649A>G (p.Ile217Val)
6	g.49457795T>G	CA364404284	MMUT	c.649A>C (p.Ile217Leu)

Number of alleles fetched