Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.44942178G>A	CA346798832	SIX3	c.74G>A (p.Arg25His)	dbSNP gnomAD v3 gnomAD v4
2	g.44942178G>C	CA346798831	SIX3	c.74G>C (p.Arg25Pro)	gnomAD v4
2	g.44942178G=	CA2494534909	SIX3	c.74G= (p.Arg25=)
2	g.44942178G>T	CA346798830	SIX3	c.74G>T (p.Arg25Leu)
2	g.44942179C>A	CA426045602	SIX3	c.75C>A (p.Arg25=)	gnomAD v4
2	g.44942179C=	CA2494534911	SIX3	c.75C= (p.Arg25=)
2	g.44942179C>G	CA426045603	SIX3	c.75C>G (p.Arg25=)
2	g.44942179C>T	CA1642250	SIX3	c.75C>T (p.Arg25=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942180T>A	CA346798834	SIX3	c.76T>A (p.Ser26Thr)
2	g.44942180T>C	CA346798833	SIX3	c.76T>C (p.Ser26Pro)
2	g.44942180T>G	CA346798835	SIX3	c.76T>G (p.Ser26Ala)
2	g.44942181C>A	CA346798836	SIX3	c.77C>A (p.Ser26Tyr)
2	g.44942181C=	CA2494534913	SIX3	c.77C= (p.Ser26=)
2	g.44942181C>G	CA346798838	SIX3	c.77C>G (p.Ser26Cys)
2	g.44942181C>T	CA346798837	SIX3	c.77C>T (p.Ser26Phe)	dbSNP
2	g.44942182C>A	CA426045604	SIX3	c.78C>A (p.Ser26=)
2	g.44942182C>G	CA426045605	SIX3	c.78C>G (p.Ser26=)
2	g.44942182C>T	CA426045606	SIX3	c.78C>T (p.Ser26=)	gnomAD v4
2	g.44942183A=	CA2494534914	SIX3	c.79A= (p.Ile27=)
2	g.44942183A>C	CA346798839	SIX3	c.79A>C (p.Ile27Leu)
2	g.44942183A>G	CA1642251	SIX3	c.79A>G (p.Ile27Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942183A>T	CA346798840	SIX3	c.79A>T (p.Ile27Leu)
2	g.44942184T>A	CA346798841	SIX3	c.80T>A (p.Ile27Lys)
2	g.44942184T>C	CA346798842	SIX3	c.80T>C (p.Ile27Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942184T>G	CA346798843	SIX3	c.80T>G (p.Ile27Arg)
2	g.44942184T=	CA2494534917	SIX3	c.80T= (p.Ile27=)
2	g.44942185A=	CA2494534919	SIX3	c.81A= (p.Ile27=)
2	g.44942185A>C	CA426045607	SIX3	c.81A>C (p.Ile27=)
2	g.44942185A>G	CA1642252	SIX3	c.81A>G (p.Ile27Met)	dbSNP ExAC gnomAD v2
2	g.44942185A>T	CA426045608	SIX3	c.81A>T (p.Ile27=)
2	g.44942186C>A	CA346798844	SIX3	c.82C>A (p.Leu28Ile)	dbSNP
2	g.44942186C=	CA2494534920	SIX3	c.82C= (p.Leu28=)
2	g.44942186C>G	CA346798845	SIX3	c.82C>G (p.Leu28Val)
2	g.44942186C>T	CA346798846	SIX3	c.82C>T (p.Leu28Phe)
2	g.44942187T>A	CA346798847	SIX3	c.83T>A (p.Leu28His)
2	g.44942187T>C	CA346798848	SIX3	c.83T>C (p.Leu28Pro)
2	g.44942187T>G	CA346798849	SIX3	c.83T>G (p.Leu28Arg)
2	g.44942188T>A	CA426045609	SIX3	c.84T>A (p.Leu28=)
2	g.44942188T>C	CA426045610	SIX3	c.84T>C (p.Leu28=)
2	g.44942188T>G	CA426045611	SIX3	c.84T>G (p.Leu28=)
2	g.44942189C>A	CA346798850	SIX3	c.85C>A (p.Leu29Met)
2	g.44942189C=	CA2494534922	SIX3	c.85C= (p.Leu29=)
2	g.44942189C>G	CA346798851	SIX3	c.85C>G (p.Leu29Val)
2	g.44942189C>T	CA1642253	SIX3	c.85C>T (p.Leu29=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.44942190T>A	CA346798852	SIX3	c.86T>A (p.Leu29Gln)
2	g.44942190T>C	CA1642254	SIX3	c.86T>C (p.Leu29Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942190T>G	CA346798853	SIX3	c.86T>G (p.Leu29Arg)
2	g.44942190T=	CA2494534923	SIX3	c.86T= (p.Leu29=)
2	g.44942191G>A	CA426045612	SIX3	c.87G>A (p.Leu29=)
2	g.44942191G>C	CA426045613	SIX3	c.87G>C (p.Leu29=)
2	g.44942191G>T	CA426045614	SIX3	c.87G>T (p.Leu29=)
2	g.44942192G>A	CA346798854	SIX3	c.88G>A (p.Ala30Thr)
2	g.44942192G>C	CA346798855	SIX3	c.88G>C (p.Ala30Pro)	gnomAD v4
2	g.44942192G>T	CA346798856	SIX3	c.88G>T (p.Ala30Ser)	gnomAD v4
2	g.44942193C>A	CA346798857	SIX3	c.89C>A (p.Ala30Glu)
2	g.44942193C>G	CA346798858	SIX3	c.89C>G (p.Ala30Gly)
2	g.44942193C>T	CA346798859	SIX3	c.89C>T (p.Ala30Val)	gnomAD v4
2	g.44942194G>A	CA426045615	SIX3	c.90G>A (p.Ala30=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942194G>C	CA426045616	SIX3	c.90G>C (p.Ala30=)
2	g.44942194G=	CA2494534927	SIX3	c.90G= (p.Ala30=)
2	g.44942194G>T	CA344815	SIX3	c.90G>T (p.Ala30=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942195A=	CA2494534929	SIX3	c.91A= (p.Ser31=)
2	g.44942195A>C	CA47011036	SIX3	c.91A>C (p.Ser31Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.44942195A>G	CA346798861	SIX3	c.91A>G (p.Ser31Gly)
2	g.44942195A>T	CA346798860	SIX3	c.91A>T (p.Ser31Cys)
2	g.44942196G>A	CA346798862	SIX3	c.92G>A (p.Ser31Asn)
2	g.44942196G>C	CA346798863	SIX3	c.92G>C (p.Ser31Thr)	ClinVar dbSNP
2	g.44942196G=	CA2494534931	SIX3	c.92G= (p.Ser31=)
2	g.44942196G>T	CA346798864	SIX3	c.92G>T (p.Ser31Ile)	gnomAD v4
2	g.44942197T>A	CA346798865	SIX3	c.93T>A (p.Ser31Arg)
2	g.44942197T>C	CA426045617	SIX3	c.93T>C (p.Ser31=)
2	g.44942197T>G	CA346798866	SIX3	c.93T>G (p.Ser31Arg)
2	g.44942197T=	CA2494534933	SIX3	c.93T= (p.Ser31=)
2	g.44942197dup	CA532706760	SIX3	c.93dup (p.Ser32Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.44942197_44942245delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC	CA2494534932	SIX3	c.93_141delinsTAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC (p.Ser31=)
2	g.44942198A>C	CA346798867	SIX3	c.94A>C (p.Ser32Arg)	gnomAD v4
2	g.44942198A>G	CA346798868	SIX3	c.94A>G (p.Ser32Gly)
2	g.44942198A>T	CA346798869	SIX3	c.94A>T (p.Ser32Cys)
2	g.44942198_44942200dup	CA769176905	SIX3	c.94_96dup (p.Ser32_Gly33insSer)	dbSNP
2	g.44942230_44942277dup	CA2597075087	SIX3	c.126_173dup (p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGlyAlaGlyGlyGlyGly)	gnomAD v3 gnomAD v4
2	g.44942230_44942277del	CA1642255	SIX3	c.126_173del (p.Gly43_Gly58del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942199G>A	CA346798870	SIX3	c.95G>A (p.Ser32Asn)	COSMIC
2	g.44942199G>C	CA346798871	SIX3	c.95G>C (p.Ser32Thr)
2	g.44942199G>T	CA346798872	SIX3	c.95G>T (p.Ser32Ile)
2	g.44942206_44942208del	CA2658869332	SIX3	c.102_104del (p.Gly35del)	gnomAD v4
2	g.44942209_44942232dup	CA2658869331	SIX3	c.105_128dup (p.Gly43_Ala44insAsnGlyAlaGlyGlyGlyGlyGly)	gnomAD v4
2	g.44942209_44942232del	CA2658869333	SIX3	c.105_128del (p.Asn36_Gly43del)	gnomAD v4
2	g.44942200C>A	CA346798874	SIX3	c.96C>A (p.Ser32Arg)	gnomAD v4
2	g.44942200C=	CA2494534935	SIX3	c.96C= (p.Ser32=)
2	g.44942200C>G	CA346798873	SIX3	c.96C>G (p.Ser32Arg)
2	g.44942200C>T	CA1642256	SIX3	c.96C>T (p.Ser32=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.44942201G>A	CA1642257	SIX3	c.97G>A (p.Gly33Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.44942201G>C	CA346798875	SIX3	c.97G>C (p.Gly33Arg)
2	g.44942201G=	CA2494534939	SIX3	c.97G= (p.Gly33=)
2	g.44942201G>T	CA346798876	SIX3	c.97G>T (p.Gly33Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942202G>A	CA1642258	SIX3	c.98G>A (p.Gly33Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942202G>C	CA346798877	SIX3	c.98G>C (p.Gly33Ala)
2	g.44942202G=	CA2494534940	SIX3	c.98G= (p.Gly33=)
2	g.44942202G>T	CA346798878	SIX3	c.98G>T (p.Gly33Val)
2	g.44942203C>A	CA426045618	SIX3	c.99C>A (p.Gly33=)	dbSNP gnomAD v2
2	g.44942203C=	CA2494534941	SIX3	c.99C= (p.Gly33=)
2	g.44942203C>G	CA426045619	SIX3	c.99C>G (p.Gly33=)
2	g.44942203C>T	CA426045620	SIX3	c.99C>T (p.Gly33=)	ClinVar
2	g.44942204G>A	CA346798879	SIX3	c.100G>A (p.Gly34Ser)
2	g.44942204G>C	CA346798880	SIX3	c.100G>C (p.Gly34Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.44942204G=	CA2494534942	SIX3	c.100G= (p.Gly34=)
2	g.44942204G>T	CA346798881	SIX3	c.100G>T (p.Gly34Cys)	gnomAD v4 COSMIC
2	g.44942205G>A	CA346798882	SIX3	c.101G>A (p.Gly34Asp)	dbSNP gnomAD v3 gnomAD v4
2	g.44942205G>C	CA346798883	SIX3	c.101G>C (p.Gly34Ala)
2	g.44942205G=	CA2494534944	SIX3	c.101G= (p.Gly34=)
2	g.44942205G>T	CA346798884	SIX3	c.101G>T (p.Gly34Val)	dbSNP
2	g.44942206C>A	CA426045621	SIX3	c.102C>A (p.Gly34=)	dbSNP gnomAD v3 gnomAD v4
2	g.44942206C=	CA2494534946	SIX3	c.102C= (p.Gly34=)
2	g.44942206C>G	CA426045622	SIX3	c.102C>G (p.Gly34=)	dbSNP
2	g.44942206C>T	CA426045623	SIX3	c.102C>T (p.Gly34=)	dbSNP gnomAD v3 gnomAD v4
2	g.44942207G>A	CA47011037	SIX3	c.103G>A (p.Gly35Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.44942207G>C	CA47011038	SIX3	c.103G>C (p.Gly35Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942207G=	CA2494534948	SIX3	c.103G= (p.Gly35=)
2	g.44942207G>T	CA346798885	SIX3	c.103G>T (p.Gly35Trp)
2	g.44942208G>A	CA346798886	SIX3	c.104G>A (p.Gly35Glu)	gnomAD v4
2	g.44942208G>C	CA346798888	SIX3	c.104G>C (p.Gly35Ala)
2	g.44942208G>T	CA346798887	SIX3	c.104G>T (p.Gly35Val)	dbSNP gnomAD v4
2	g.44942209G>A	CA426045624	SIX3	c.105G>A (p.Gly35=)	gnomAD v4
2	g.44942209G>C	CA426045625	SIX3	c.105G>C (p.Gly35=)	gnomAD v4
2	g.44942209G=	CA2494534951	SIX3	c.105G= (p.Gly35=)
2	g.44942209G>T	CA1642259	SIX3	c.105G>T (p.Gly35=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942209_44942211del	CA2576956285	SIX3	c.105_107del (p.Asn36del)
2	g.44942210A>C	CA346798889	SIX3	c.106A>C (p.Asn36His)
2	g.44942210A>G	CA346798890	SIX3	c.106A>G (p.Asn36Asp)	gnomAD v4
2	g.44942210A>T	CA346798891	SIX3	c.106A>T (p.Asn36Tyr)
2	g.44942211A>C	CA346798892	SIX3	c.107A>C (p.Asn36Thr)
2	g.44942211A>G	CA346798893	SIX3	c.107A>G (p.Asn36Ser)
2	g.44942211A>T	CA346798894	SIX3	c.107A>T (p.Asn36Ile)
2	g.44942211_44942229delinsACGGTGCGGGAGGCGGCGG	CA2494534953	SIX3	c.107_125delinsACGGTGCGGGAGGCGGCGG (p.Asn36=)
2	g.44942212C>A	CA346798895	SIX3	c.108C>A (p.Asn36Lys)
2	g.44942212C=	CA2494534955	SIX3	c.108C= (p.Asn36=)
2	g.44942212C>G	CA346798896	SIX3	c.108C>G (p.Asn36Lys)	dbSNP
2	g.44942212C>T	CA426126329	SIX3	c.108C>T (p.Asn36=)	ClinVar dbSNP gnomAD v4
2	g.44942215_44942232dup	CA1642260	SIX3	c.111_128dup (p.Gly43_Ala44insAlaGlyGlyGlyGlyGly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942215_44942232del	CA2494534957	SIX3	c.111_128del (p.Ala38_Gly43del)	dbSNP gnomAD v4
2	g.44942213G>A	CA346798898	SIX3	c.109G>A (p.Gly37Ser)
2	g.44942213G>C	CA346798897	SIX3	c.109G>C (p.Gly37Arg)	dbSNP gnomAD v4
2	g.44942213G=	CA2494534960	SIX3	c.109G= (p.Gly37=)
2	g.44942213G>T	CA129166	SIX3	c.109G>T (p.Gly37Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942214G>A	CA346798899	SIX3	c.110G>A (p.Gly37Asp)
2	g.44942214G>C	CA346798900	SIX3	c.110G>C (p.Gly37Ala)
2	g.44942214G>T	CA346798901	SIX3	c.110G>T (p.Gly37Val)	dbSNP
2	g.44942215T>A	CA426126330	SIX3	c.111T>A (p.Gly37=)
2	g.44942215T>C	CA1642262	SIX3	c.111T>C (p.Gly37=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942215T>G	CA426126331	SIX3	c.111T>G (p.Gly37=)
2	g.44942215T=	CA2494534962	SIX3	c.111T= (p.Gly37=)
2	g.44942215_44942233delinsTGCGGGAGGCGGCGGCGGC	CA2494534963	SIX3	c.111_129delinsTGCGGGAGGCGGCGGCGGC (p.Gly37=)
2	g.44942216G>A	CA346798902	SIX3	c.112G>A (p.Ala38Thr)	ClinVar dbSNP
2	g.44942216G>C	CA346798903	SIX3	c.112G>C (p.Ala38Pro)
2	g.44942216G>T	CA346798904	SIX3	c.112G>T (p.Ala38Ser)
2	g.44942228_44942245dup	CA2658869389	SIX3	c.124_141dup (p.Gly47_Ser48insGlyGlyAlaGlyGlyGly)	dbSNP gnomAD v4
2	g.44942228_44942245del	CA1642261	SIX3	c.124_141del (p.Gly42_Gly47del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942217C>A	CA346798905	SIX3	c.113C>A (p.Ala38Glu)	gnomAD v4
2	g.44942217C=	CA2494534966	SIX3	c.113C= (p.Ala38=)
2	g.44942217C>G	CA346798906	SIX3	c.113C>G (p.Ala38Gly)
2	g.44942217C>T	CA1642263	SIX3	c.113C>T (p.Ala38Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.44942218G>A	CA426126332	SIX3	c.114G>A (p.Ala38=)	dbSNP gnomAD v4 COSMIC
2	g.44942218G>C	CA426126333	SIX3	c.114G>C (p.Ala38=)	gnomAD v4
2	g.44942218G=	CA2494534968	SIX3	c.114G= (p.Ala38=)
2	g.44942218G>T	CA1642264	SIX3	c.114G>T (p.Ala38=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942218_44942219insAGCGGC	CA645537516	SIX3	c.114_115insAGCGGC (p.Ala38_Gly39insSerGly)	COSMIC
2	g.44942219G>A	CA346798908	SIX3	c.115G>A (p.Gly39Arg)	dbSNP gnomAD v4
2	g.44942219G>C	CA346798909	SIX3	c.115G>C (p.Gly39Arg)
2	g.44942219G=	CA2494534969	SIX3	c.115G= (p.Gly39=)
2	g.44942219G>T	CA346798907	SIX3	c.115G>T (p.Gly39Ter)	gnomAD v4
2	g.44942220G>A	CA346798910	SIX3	c.116G>A (p.Gly39Glu)	gnomAD v4
2	g.44942220G>C	CA346798911	SIX3	c.116G>C (p.Gly39Ala)	gnomAD v4
2	g.44942220G>T	CA346798912	SIX3	c.116G>T (p.Gly39Val)	gnomAD v4
2	g.44942221A>C	CA426126334	SIX3	c.117A>C (p.Gly39=)
2	g.44942221A>G	CA426126335	SIX3	c.117A>G (p.Gly39=)	gnomAD v4
2	g.44942221A>T	CA426126336	SIX3	c.117A>T (p.Gly39=)	gnomAD v4
2	g.44942221_44942224delinsAGGC	CA2494534971	SIX3	c.117_120delinsAGGC (p.Gly39=)
2	g.44942222G>A	CA346798913	SIX3	c.118G>A (p.Gly40Ser)
2	g.44942222G>C	CA346798914	SIX3	c.118G>C (p.Gly40Arg)	gnomAD v4
2	g.44942222G>T	CA346798915	SIX3	c.118G>T (p.Gly40Cys)	gnomAD v4
2	g.44942232_44942234dup	CA1642265	SIX3	c.128_130dup (p.Gly43_Ala44insGly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942232_44942234del	CA532706661	SIX3	c.128_130del (p.Gly43del)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.44942230_44942256del	CA2749734938	SIX3	c.126_152del (p.Gly43_Gly51del)
2	g.44942235_44942306del	CA2658869408	SIX3	c.131_202del (p.Ala44_Gly67del)	gnomAD v4
2	g.44942223G>A	CA346798916	SIX3	c.119G>A (p.Gly40Asp)
2	g.44942223G>C	CA346798917	SIX3	c.119G>C (p.Gly40Ala)
2	g.44942223G>T	CA346798918	SIX3	c.119G>T (p.Gly40Val)
2	g.44942224C>A	CA426126337	SIX3	c.120C>A (p.Gly40=)	ClinVar dbSNP gnomAD v4
2	g.44942224C>G	CA426126339	SIX3	c.120C>G (p.Gly40=)
2	g.44942224C>T	CA426126338	SIX3	c.120C>T (p.Gly40=)	gnomAD v4
2	g.44942225G>A	CA346798919	SIX3	c.121G>A (p.Gly41Ser)	gnomAD v4
2	g.44942225G>C	CA346798920	SIX3	c.121G>C (p.Gly41Arg)
2	g.44942225G=	CA2494534973	SIX3	c.121G= (p.Gly41=)
2	g.44942225G>T	CA346798921	SIX3	c.121G>T (p.Gly41Cys)	gnomAD v4
2	g.44942225_44942246delinsGGCGGCGGCGCGGGAGGCGGCA	CA2494534974	SIX3	c.121_142delinsGGCGGCGGCGCGGGAGGCGGCA (p.Gly41=)
2	g.44942226G>A	CA346798924	SIX3	c.122G>A (p.Gly41Asp)
2	g.44942226G>C	CA346798923	SIX3	c.122G>C (p.Gly41Ala)
2	g.44942226G>T	CA346798922	SIX3	c.122G>T (p.Gly41Val)	gnomAD v4
2	g.44942227_44942228insAGC	CA769176972	SIX3	c.123_124insAGC (p.Gly41_Gly42insSer)	dbSNP
2	g.44942235_44942255dup	CA916524990	SIX3	c.131_151dup (p.Gly50_Gly51insAlaGlyGlyGlySerGlyGly)	dbSNP gnomAD v3 gnomAD v4
2	g.44942235_44942255del	CA2494534976	SIX3	c.131_151del (p.Ala44_Gly50del)	dbSNP
2	g.44942227C>A	CA426126340	SIX3	c.123C>A (p.Gly41=)
2	g.44942227C>G	CA426126341	SIX3	c.123C>G (p.Gly41=)
2	g.44942227C>T	CA426126342	SIX3	c.123C>T (p.Gly41=)	gnomAD v4
2	g.44942228G>A	CA346798925	SIX3	c.124G>A (p.Gly42Ser)	gnomAD v4
2	g.44942228G>C	CA346798926	SIX3	c.124G>C (p.Gly42Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.44942228G=	CA2494534978	SIX3	c.124G= (p.Gly42=)
2	g.44942228G>T	CA346798927	SIX3	c.124G>T (p.Gly42Cys)	gnomAD v4
2	g.44942234_44942245dup	CA2576956287	SIX3	c.130_141dup (p.Gly47_Ser48insAlaGlyGlyGly)	ClinVar
2	g.44942229G>A	CA346798928	SIX3	c.125G>A (p.Gly42Asp)	gnomAD v4
2	g.44942229G>C	CA346798929	SIX3	c.125G>C (p.Gly42Ala)
2	g.44942229G>T	CA346798930	SIX3	c.125G>T (p.Gly42Val)
2	g.44942230_44942231del	CA2658869441	SIX3	c.126_127del (p.Gly43ArgfsTer?)	gnomAD v4
2	g.44942235_44942252del	CA1030071070	SIX3	c.131_148del (p.Ala44_Gly49del)	gnomAD v3 gnomAD v4
2	g.44942230C>A	CA426126343	SIX3	c.126C>A (p.Gly42=)
2	g.44942230C>G	CA426126344	SIX3	c.126C>G (p.Gly42=)
2	g.44942230C>T	CA426126345	SIX3	c.126C>T (p.Gly42=)	gnomAD v4
2	g.44942231G>A	CA346798931	SIX3	c.127G>A (p.Gly43Ser)	gnomAD v4
2	g.44942231G>C	CA346798932	SIX3	c.127G>C (p.Gly43Arg)
2	g.44942231G=	CA2494534980	SIX3	c.127G= (p.Gly43=)
2	g.44942231G>T	CA346798933	SIX3	c.127G>T (p.Gly43Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942232del	CA2658869460	SIX3	c.128del (p.Gly43AlafsTer?)	gnomAD v4
2	g.44942235_44942243del	CA2658869454	SIX3	c.131_139del (p.Ala44_Gly46del)	gnomAD v4
2	g.44942235_44942285del	CA2544789187	SIX3	c.131_181del (p.Ala44_Gly60del)
2	g.44942232G>A	CA346798934	SIX3	c.128G>A (p.Gly43Asp)	gnomAD v4
2	g.44942232G>C	CA346798935	SIX3	c.128G>C (p.Gly43Ala)
2	g.44942232G>T	CA346798936	SIX3	c.128G>T (p.Gly43Val)	gnomAD v4
2	g.44942235_44942249del	CA2749734939	SIX3	c.131_145del (p.Ala44_Ser48del)
2	g.44942233C>A	CA426126346	SIX3	c.129C>A (p.Gly43=)	gnomAD v4
2	g.44942233C=	CA2494534983	SIX3	c.129C= (p.Gly43=)
2	g.44942233C>G	CA426126347	SIX3	c.129C>G (p.Gly43=)
2	g.44942233C>T	CA426126348	SIX3	c.129C>T (p.Gly43=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942233_44942263delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGT	CA2494534982	SIX3	c.129_159delinsCGCGGGAGGCGGCAGCGGCGGCGGGAACGGT (p.Gly43=)
2	g.44942234G>A	CA346798938	SIX3	c.130G>A (p.Ala44Thr)
2	g.44942234G>C	CA346798937	SIX3	c.130G>C (p.Ala44Pro)
2	g.44942234G>T	CA346798939	SIX3	c.130G>T (p.Ala44Ser)
2	g.44942240_44942258dup	CA2658869468	SIX3	c.136_154dup (p.Asn52ArgfsTer?)	gnomAD v4
2	g.44942246_44942275del	CA1642266	SIX3	c.142_171del (p.Ser48_Gly57del)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942235C>A	CA346798941	SIX3	c.131C>A (p.Ala44Glu)
2	g.44942235C>G	CA346798940	SIX3	c.131C>G (p.Ala44Gly)
2	g.44942235C>T	CA346798942	SIX3	c.131C>T (p.Ala44Val)	gnomAD v4
2	g.44942235_44942246del	CA2576956291	SIX3	c.131_142del (p.Ala44_Ser48delinsGly)
2	g.44942236G>A	CA426126349	SIX3	c.132G>A (p.Ala44=)	dbSNP gnomAD v2
2	g.44942236G>C	CA426126350	SIX3	c.132G>C (p.Ala44=)
2	g.44942236G=	CA2494534985	SIX3	c.132G= (p.Ala44=)
2	g.44942236G>T	CA426126351	SIX3	c.132G>T (p.Ala44=)	dbSNP gnomAD v4
2	g.44942237G>A	CA346798943	SIX3	c.133G>A (p.Gly45Arg)	gnomAD v4
2	g.44942237G>C	CA346798944	SIX3	c.133G>C (p.Gly45Arg)
2	g.44942237G>T	CA346798945	SIX3	c.133G>T (p.Gly45Ter)
2	g.44942238G>A	CA47011039	SIX3	c.134G>A (p.Gly45Glu)	dbSNP gnomAD v3 gnomAD v4
2	g.44942238G>C	CA346798946	SIX3	c.134G>C (p.Gly45Ala)
2	g.44942238G=	CA2494534987	SIX3	c.134G= (p.Gly45=)
2	g.44942238G>T	CA346798947	SIX3	c.134G>T (p.Gly45Val)	gnomAD v4
2	g.44942239A>C	CA426126352	SIX3	c.135A>C (p.Gly45=)
2	g.44942239A>G	CA426126353	SIX3	c.135A>G (p.Gly45=)
2	g.44942239A>T	CA426126354	SIX3	c.135A>T (p.Gly45=)
2	g.44942239_44942248delinsAGGCGGCAGC	CA2494534989	SIX3	c.135_144delinsAGGCGGCAGC (p.Gly45=)
2	g.44942240G>A	CA346798948	SIX3	c.136G>A (p.Gly46Ser)	gnomAD v4
2	g.44942240G>C	CA346798949	SIX3	c.136G>C (p.Gly46Arg)
2	g.44942240G>T	CA346798950	SIX3	c.136G>T (p.Gly46Cys)
2	g.44942243_44942245dup	CA913090548	SIX3	c.139_141dup (p.Gly47_Ser48insGly)
2	g.44942246_44942254dup	CA47011040	SIX3	c.142_150dup (p.Gly50_Gly51insSerGlyGly)	dbSNP gnomAD v3 gnomAD v4
2	g.44942246_44942254del	CA532706662	SIX3	c.142_150del (p.Ser48_Gly50del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942241G>A	CA346798951	SIX3	c.137G>A (p.Gly46Asp)
2	g.44942241G>C	CA346798952	SIX3	c.137G>C (p.Gly46Ala)
2	g.44942241G>T	CA346798953	SIX3	c.137G>T (p.Gly46Val)	gnomAD v4
2	g.44942242C>A	CA426126355	SIX3	c.138C>A (p.Gly46=)
2	g.44942242C>G	CA426126356	SIX3	c.138C>G (p.Gly46=)
2	g.44942242C>T	CA426126357	SIX3	c.138C>T (p.Gly46=)	dbSNP gnomAD v4
2	g.44942243G>A	CA346798956	SIX3	c.139G>A (p.Gly47Ser)	gnomAD v4
2	g.44942243G>C	CA346798954	SIX3	c.139G>C (p.Gly47Arg)
2	g.44942243G=	CA2494534993	SIX3	c.139G= (p.Gly47=)
2	g.44942243G>T	CA346798955	SIX3	c.139G>T (p.Gly47Cys)	dbSNP
2	g.44942243_44942246delinsGGCA	CA2494534994	SIX3	c.139_142delinsGGCA (p.Gly47=)
2	g.44942243_44942244insA	CA916524991	SIX3	c.139_140insA (p.Gly47GlufsTer?)	dbSNP
2	g.44942244G>A	CA346798957	SIX3	c.140G>A (p.Gly47Asp)	gnomAD v4
2	g.44942244G>C	CA346798958	SIX3	c.140G>C (p.Gly47Ala)
2	g.44942244G>T	CA346798959	SIX3	c.140G>T (p.Gly47Val)	ClinVar dbSNP
2	g.44942246_44942248del	CA645537517	SIX3	c.142_144del (p.Ser48del)	dbSNP COSMIC
2	g.44942245C>A	CA426126358	SIX3	c.141C>A (p.Gly47=)
2	g.44942245C>G	CA426126360	SIX3	c.141C>G (p.Gly47=)
2	g.44942245C>T	CA426126359	SIX3	c.141C>T (p.Gly47=)	gnomAD v4
2	g.44942246A=	CA2494534996	SIX3	c.142A= (p.Ser48=)
2	g.44942246A>C	CA346798960	SIX3	c.142A>C (p.Ser48Arg)	gnomAD v4
2	g.44942246A>G	CA1642267	SIX3	c.142A>G (p.Ser48Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942246A>T	CA346798961	SIX3	c.142A>T (p.Ser48Cys)
2	g.44942247G>A	CA346798962	SIX3	c.143G>A (p.Ser48Asn)
2	g.44942247G>C	CA346798963	SIX3	c.143G>C (p.Ser48Thr)
2	g.44942247G>T	CA346798964	SIX3	c.143G>T (p.Ser48Ile)
2	g.44942254_44942256del	CA2658869504	SIX3	c.150_152del (p.Gly51del)	gnomAD v4
2	g.44942248_44942277del	CA2511709874	SIX3	c.144_173del (p.Gly49_Gly58del)
2	g.44942248C>A	CA346798965	SIX3	c.144C>A (p.Ser48Arg)
2	g.44942248C=	CA2494535000	SIX3	c.144C= (p.Ser48=)
2	g.44942248C>G	CA346798966	SIX3	c.144C>G (p.Ser48Arg)
2	g.44942248C>T	CA426126361	SIX3	c.144C>T (p.Ser48=)	dbSNP gnomAD v4
2	g.44942249G>A	CA346798969	SIX3	c.145G>A (p.Gly49Ser)	dbSNP gnomAD v4
2	g.44942249G>C	CA346798968	SIX3	c.145G>C (p.Gly49Arg)
2	g.44942249G=	CA2494535004	SIX3	c.145G= (p.Gly49=)
2	g.44942249G>T	CA346798967	SIX3	c.145G>T (p.Gly49Cys)
2	g.44942257_44942277dup	CA2658869505	SIX3	c.153_173dup (p.Gly58_Ala59insAsnGlyAlaGlyGlyGlyGly)	gnomAD v4
2	g.44942257_44942277del	CA2658869506	SIX3	c.153_173del (p.Asn52_Gly58del)	gnomAD v4
2	g.44942250G>A	CA346798970	SIX3	c.146G>A (p.Gly49Asp)	dbSNP gnomAD v2 gnomAD v4
2	g.44942250G>C	CA346798971	SIX3	c.146G>C (p.Gly49Ala)
2	g.44942250G=	CA2494535007	SIX3	c.146G= (p.Gly49=)
2	g.44942250G>T	CA346798972	SIX3	c.146G>T (p.Gly49Val)
2	g.44942251C>A	CA426126362	SIX3	c.147C>A (p.Gly49=)
2	g.44942251C=	CA2494535009	SIX3	c.147C= (p.Gly49=)
2	g.44942251C>G	CA426126363	SIX3	c.147C>G (p.Gly49=)
2	g.44942251C>T	CA426126364	SIX3	c.147C>T (p.Gly49=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942252G>A	CA346798973	SIX3	c.148G>A (p.Gly50Ser)	dbSNP gnomAD v4
2	g.44942252G>C	CA346798974	SIX3	c.148G>C (p.Gly50Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942252G=	CA2494535011	SIX3	c.148G= (p.Gly50=)
2	g.44942252G>T	CA346798975	SIX3	c.148G>T (p.Gly50Cys)	gnomAD v4
2	g.44942253del	CA2576956298	SIX3	c.149del (p.Gly50AlafsTer?)	gnomAD v4
2	g.44942253G>A	CA346798976	SIX3	c.149G>A (p.Gly50Asp)	gnomAD v4
2	g.44942253G>C	CA346798977	SIX3	c.149G>C (p.Gly50Ala)
2	g.44942253G=	CA2494535013	SIX3	c.149G= (p.Gly50=)
2	g.44942253G>T	CA1642268	SIX3	c.149G>T (p.Gly50Val)	dbSNP ExAC gnomAD v2
2	g.44942254C>A	CA426126365	SIX3	c.150C>A (p.Gly50=)
2	g.44942254C=	CA2494535015	SIX3	c.150C= (p.Gly50=)
2	g.44942254C>G	CA426126366	SIX3	c.150C>G (p.Gly50=)
2	g.44942254C>T	CA426126367	SIX3	c.150C>T (p.Gly50=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942255G>A	CA346798978	SIX3	c.151G>A (p.Gly51Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.44942255G>C	CA47011041	SIX3	c.151G>C (p.Gly51Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942255G=	CA2494535019	SIX3	c.151G= (p.Gly51=)
2	g.44942255G>T	CA1642269	SIX3	c.151G>T (p.Gly51Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942256G>A	CA1642270	SIX3	c.152G>A (p.Gly51Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942256G>C	CA346798979	SIX3	c.152G>C (p.Gly51Ala)
2	g.44942256G=	CA2494535021	SIX3	c.152G= (p.Gly51=)
2	g.44942256G>T	CA346798980	SIX3	c.152G>T (p.Gly51Val)
2	g.44942257G>A	CA426126368	SIX3	c.153G>A (p.Gly51=)
2	g.44942257G>C	CA426126369	SIX3	c.153G>C (p.Gly51=)	gnomAD v4
2	g.44942257G=	CA2494535023	SIX3	c.153G= (p.Gly51=)
2	g.44942257G>T	CA1642271	SIX3	c.153G>T (p.Gly51=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942257_44942258insCTCCTCTCCTCTCAGGTCAGTCCATGGTATTCCGCTCCCCCCT	CA2749734940	SIX3	c.153_154insCTCCTCTCCTCTCAGGTCAGTCCATGGTATTCCGCTCCCCCCT (p.Asn52LeufsTer15)
2	g.44942258A>C	CA346798981	SIX3	c.154A>C (p.Asn52His)
2	g.44942258A>G	CA346798982	SIX3	c.154A>G (p.Asn52Asp)
2	g.44942258A>T	CA346798983	SIX3	c.154A>T (p.Asn52Tyr)	ClinVar
2	g.44942259A>C	CA346798984	SIX3	c.155A>C (p.Asn52Thr)	gnomAD v3 gnomAD v4
2	g.44942259A>G	CA346798985	SIX3	c.155A>G (p.Asn52Ser)
2	g.44942259A>T	CA346798986	SIX3	c.155A>T (p.Asn52Ile)
2	g.44942260C>A	CA346798987	SIX3	c.156C>A (p.Asn52Lys)
2	g.44942260C=	CA2494535024	SIX3	c.156C= (p.Asn52=)
2	g.44942260C>G	CA346798988	SIX3	c.156C>G (p.Asn52Lys)
2	g.44942260C>T	CA426126370	SIX3	c.156C>T (p.Asn52=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942261G>A	CA346798989	SIX3	c.157G>A (p.Gly53Ser)
2	g.44942261G>C	CA1642272	SIX3	c.157G>C (p.Gly53Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942261G=	CA2494535026	SIX3	c.157G= (p.Gly53=)
2	g.44942261G>T	CA346798990	SIX3	c.157G>T (p.Gly53Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.44942262G>A	CA346798992	SIX3	c.158G>A (p.Gly53Asp)
2	g.44942262G>C	CA1642273	SIX3	c.158G>C (p.Gly53Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942262G=	CA2494535027	SIX3	c.158G= (p.Gly53=)
2	g.44942262G>T	CA346798991	SIX3	c.158G>T (p.Gly53Val)
2	g.44942263T>A	CA426126371	SIX3	c.159T>A (p.Gly53=)
2	g.44942263T>C	CA426126372	SIX3	c.159T>C (p.Gly53=)
2	g.44942263T>G	CA426126373	SIX3	c.159T>G (p.Gly53=)	dbSNP
2	g.44942264G>A	CA346798995	SIX3	c.160G>A (p.Ala54Thr)
2	g.44942264G>C	CA346798993	SIX3	c.160G>C (p.Ala54Pro)
2	g.44942264G>T	CA346798994	SIX3	c.160G>T (p.Ala54Ser)
2	g.44942265C>A	CA346798996	SIX3	c.161C>A (p.Ala54Glu)	dbSNP gnomAD v4
2	g.44942265C=	CA2494535029	SIX3	c.161C= (p.Ala54=)
2	g.44942265C>G	CA346798997	SIX3	c.161C>G (p.Ala54Gly)
2	g.44942265C>T	CA346798998	SIX3	c.161C>T (p.Ala54Val)	gnomAD v4
2	g.44942266G>A	CA47011042	SIX3	c.162G>A (p.Ala54=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.44942266G>C	CA426126375	SIX3	c.162G>C (p.Ala54=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942266G=	CA2494535031	SIX3	c.162G= (p.Ala54=)
2	g.44942266G>T	CA426126374	SIX3	c.162G>T (p.Ala54=)	dbSNP gnomAD v2 gnomAD v4
2	g.44942267G>A	CA346799001	SIX3	c.163G>A (p.Gly55Arg)
2	g.44942267G>C	CA346799000	SIX3	c.163G>C (p.Gly55Arg)	dbSNP gnomAD v4
2	g.44942267G=	CA2494535036	SIX3	c.163G= (p.Gly55=)
2	g.44942267G>T	CA346798999	SIX3	c.163G>T (p.Gly55Ter)
2	g.44942268G>A	CA1642274	SIX3	c.164G>A (p.Gly55Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942268G>C	CA346799002	SIX3	c.164G>C (p.Gly55Ala)
2	g.44942268G=	CA2494535038	SIX3	c.164G= (p.Gly55=)
2	g.44942268G>T	CA346799003	SIX3	c.164G>T (p.Gly55Val)
2	g.44942269A>C	CA426126378	SIX3	c.165A>C (p.Gly55=)	gnomAD v4
2	g.44942269A>G	CA426126377	SIX3	c.165A>G (p.Gly55=)
2	g.44942269A>T	CA426126376	SIX3	c.165A>T (p.Gly55=)	gnomAD v4
2	g.44942270G>A	CA346799004	SIX3	c.166G>A (p.Gly56Ser)	dbSNP
2	g.44942270G>C	CA346799005	SIX3	c.166G>C (p.Gly56Arg)	gnomAD v3 gnomAD v4
2	g.44942270G=	CA2494535040	SIX3	c.166G= (p.Gly56=)
2	g.44942270G>T	CA346799006	SIX3	c.166G>T (p.Gly56Cys)
2	g.44942271G>A	CA346799007	SIX3	c.167G>A (p.Gly56Asp)
2	g.44942271G>C	CA346799009	SIX3	c.167G>C (p.Gly56Ala)
2	g.44942271G>T	CA346799008	SIX3	c.167G>T (p.Gly56Val)
2	g.44942271_44942272delinsGC	CA2494535042	SIX3	c.167_168delinsGC (p.Gly56=)
2	g.44942272del	CA532706663	SIX3	c.168del (p.Gly57AlafsTer?)	dbSNP gnomAD v2 gnomAD v4
2	g.44942272C>A	CA426126379	SIX3	c.168C>A (p.Gly56=)	gnomAD v4
2	g.44942272C=	CA2494535046	SIX3	c.168C= (p.Gly56=)
2	g.44942272C>G	CA426126380	SIX3	c.168C>G (p.Gly56=)
2	g.44942272C>T	CA1642275	SIX3	c.168C>T (p.Gly56=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942273G>A	CA346799010	SIX3	c.169G>A (p.Gly57Ser)	dbSNP gnomAD v4
2	g.44942273G>C	CA346799011	SIX3	c.169G>C (p.Gly57Arg)
2	g.44942273G=	CA2494535051	SIX3	c.169G= (p.Gly57=)
2	g.44942273G>T	CA346799012	SIX3	c.169G>T (p.Gly57Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.44942278_44942286dup	CA2494535049	SIX3	c.174_182dup (p.Gly61_Ala62insAlaGlyGly)	dbSNP
2	g.44942278_44942286del	CA2658869521	SIX3	c.174_182del (p.Ala59_Gly61del)	gnomAD v4
2	g.44942274G>A	CA346799013	SIX3	c.170G>A (p.Gly57Asp)	gnomAD v4
2	g.44942274G>C	CA346799014	SIX3	c.170G>C (p.Gly57Ala)
2	g.44942274G>T	CA346799015	SIX3	c.170G>T (p.Gly57Val)	gnomAD v4
2	g.44942275C>A	CA426126381	SIX3	c.171C>A (p.Gly57=)	gnomAD v4
2	g.44942275C=	CA2494535053	SIX3	c.171C= (p.Gly57=)
2	g.44942275C>G	CA426126382	SIX3	c.171C>G (p.Gly57=)
2	g.44942275C>T	CA1642276	SIX3	c.171C>T (p.Gly57=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.44942276G>A	CA346799016	SIX3	c.172G>A (p.Gly58Ser)
2	g.44942276G>C	CA346799017	SIX3	c.172G>C (p.Gly58Arg)
2	g.44942276G=	CA2494535058	SIX3	c.172G= (p.Gly58=)
2	g.44942276G>T	CA1642277	SIX3	c.172G>T (p.Gly58Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.44942278_44942283del	CA2658869523	SIX3	c.174_179del (p.Ala59_Gly60del)	gnomAD v4
2	g.44942277G>A	CA346799020	SIX3	c.173G>A (p.Gly58Asp)
2	g.44942277G>C	CA346799019	SIX3	c.173G>C (p.Gly58Ala)
2	g.44942277G>T	CA346799018	SIX3	c.173G>T (p.Gly58Val)
2	g.44942278T>A	CA426126384	SIX3	c.174T>A (p.Gly58=)
2	g.44942278T>C	CA426126385	SIX3	c.174T>C (p.Gly58=)	gnomAD v4
2	g.44942278T>G	CA426126387	SIX3	c.174T>G (p.Gly58=)	dbSNP

Number of alleles fetched