Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219060349G>A	CA350637422	IHH	c.119C>T (p.Pro40Leu)
2	g.219060349G>C	CA350637424	IHH	c.119C>G (p.Pro40Arg)
2	g.219060349G>T	CA350637426	IHH	c.119C>A (p.Pro40Gln)
2	g.219060350G>A	CA350637428	IHH	c.118C>T (p.Pro40Ser)	gnomAD v4
2	g.219060350G>C	CA350637431	IHH	c.118C>G (p.Pro40Ala)
2	g.219060350G=	CA1329042656	IHH	c.118C= (p.Pro40=)
2	g.219060350G>T	CA2116771	IHH	c.118C>A (p.Pro40Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060351T>A	CA431420361	IHH	c.117A>T (p.Arg39=)
2	g.219060351T>C	CA431420362	IHH	c.117A>G (p.Arg39=)	dbSNP
2	g.219060351T>G	CA431420363	IHH	c.117A>C (p.Arg39=)	dbSNP
2	g.219060351T=	CA1329042657	IHH	c.117A= (p.Arg39=)
2	g.219060352C>A	CA350637434	IHH	c.116G>T (p.Arg39Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060352C=	CA1329042658	IHH	c.116G= (p.Arg39=)
2	g.219060352C>G	CA350637436	IHH	c.116G>C (p.Arg39Pro)	COSMIC
2	g.219060352C>T	CA350637439	IHH	c.116G>A (p.Arg39Gln)	gnomAD v4
2	g.219060353G>A	CA350637441	IHH	c.115C>T (p.Arg39Ter)	gnomAD v4
2	g.219060353G>C	CA350637442	IHH	c.115C>G (p.Arg39Gly)	dbSNP
2	g.219060353G=	CA1329042659	IHH	c.115C= (p.Arg39=)
2	g.219060353G>T	CA431420367	IHH	c.115C>A (p.Arg39=)	gnomAD v4
2	g.219060354C>A	CA431420368	IHH	c.114G>T (p.Arg38=)
2	g.219060354C>G	CA431420369	IHH	c.114G>C (p.Arg38=)
2	g.219060354C>T	CA431420370	IHH	c.114G>A (p.Arg38=)	gnomAD v4
2	g.219060355C>A	CA350637445	IHH	c.113G>T (p.Arg38Leu)
2	g.219060355C>G	CA350637448	IHH	c.113G>C (p.Arg38Pro)	gnomAD v4 COSMIC
2	g.219060355C>T	CA350637450	IHH	c.113G>A (p.Arg38Gln)	gnomAD v4
2	g.219060356G>A	CA350637453	IHH	c.112C>T (p.Arg38Trp)	gnomAD v4
2	g.219060356G>C	CA350637455	IHH	c.112C>G (p.Arg38Gly)
2	g.219060356G>T	CA431419484	IHH	c.112C>A (p.Arg38=)	gnomAD v4
2	g.219060357G>A	CA431419487	IHH	c.111C>T (p.Arg37=)	gnomAD v4
2	g.219060357G>C	CA431419489	IHH	c.111C>G (p.Arg37=)
2	g.219060357G>T	CA431419491	IHH	c.111C>A (p.Arg37=)	gnomAD v4
2	g.219060358C>A	CA350637459	IHH	c.110G>T (p.Arg37Leu)	gnomAD v4
2	g.219060358C>G	CA350637461	IHH	c.110G>C (p.Arg37Pro)
2	g.219060358C>T	CA350637465	IHH	c.110G>A (p.Arg37His)	gnomAD v4
2	g.219060359G>A	CA350637472	IHH	c.109C>T (p.Arg37Cys)
2	g.219060359G>C	CA350637467	IHH	c.109C>G (p.Arg37Gly)	gnomAD v4
2	g.219060359G=	CA1329042660	IHH	c.109C= (p.Arg37=)
2	g.219060359G>T	CA2116772	IHH	c.109C>A (p.Arg37Ser)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.219060360G>A	CA431419499	IHH	c.108C>T (p.Ser36=)
2	g.219060360G>C	CA350637475	IHH	c.108C>G (p.Ser36Arg)
2	g.219060360G>T	CA350637477	IHH	c.108C>A (p.Ser36Arg)	gnomAD v4
2	g.219060361C>A	CA350637480	IHH	c.107G>T (p.Ser36Ile)
2	g.219060361C=	CA1329042661	IHH	c.107G= (p.Ser36=)
2	g.219060361C>G	CA350637482	IHH	c.107G>C (p.Ser36Thr)	dbSNP
2	g.219060361C>T	CA350637485	IHH	c.107G>A (p.Ser36Asn)	dbSNP gnomAD v4
2	g.219060362T>A	CA350637486	IHH	c.106A>T (p.Ser36Cys)
2	g.219060362T>C	CA350637488	IHH	c.106A>G (p.Ser36Gly)	dbSNP
2	g.219060362T>G	CA350637491	IHH	c.106A>C (p.Ser36Arg)
2	g.219060362T=	CA1329042662	IHH	c.106A= (p.Ser36=)
2	g.219060363G>A	CA431419512	IHH	c.105C>T (p.Gly35=)	ClinVar dbSNP gnomAD v4 COSMIC
2	g.219060363G>C	CA431419517	IHH	c.105C>G (p.Gly35=)
2	g.219060363G=	CA1329042663	IHH	c.105C= (p.Gly35=)
2	g.219060363G>T	CA431419518	IHH	c.105C>A (p.Gly35=)	gnomAD v4
2	g.219060364C>A	CA350637494	IHH	c.104G>T (p.Gly35Val)
2	g.219060364C=	CA1329042664	IHH	c.104G= (p.Gly35=)
2	g.219060364C>G	CA350637497	IHH	c.104G>C (p.Gly35Ala)
2	g.219060364C>T	CA2116773	IHH	c.104G>A (p.Gly35Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060366del	CA2663195114	IHH	c.104del (p.Gly35AlafsTer?)	gnomAD v4
2	g.219060365C>A	CA350637506	IHH	c.103G>T (p.Gly35Cys)	gnomAD v4
2	g.219060365C=	CA1329042665	IHH	c.103G= (p.Gly35=)
2	g.219060365C>G	CA350637503	IHH	c.103G>C (p.Gly35Arg)
2	g.219060365C>T	CA350637501	IHH	c.103G>A (p.Gly35Ser)
2	g.219060365_219060366insACGCAAACTCGTG	CA916778810	IHH	c.102_103insCACGAGTTTGCGT (p.Gly35HisfsTer?)	dbSNP
2	g.219060366C>A	CA431419528	IHH	c.102G>T (p.Val34=)
2	g.219060366C>G	CA431419527	IHH	c.102G>C (p.Val34=)
2	g.219060366C>T	CA431419523	IHH	c.102G>A (p.Val34=)
2	g.219060367A>C	CA350637509	IHH	c.101T>G (p.Val34Gly)
2	g.219060367A>G	CA350637513	IHH	c.101T>C (p.Val34Ala)
2	g.219060367A>T	CA350637512	IHH	c.101T>A (p.Val34Glu)
2	g.219060368C>A	CA350637515	IHH	c.100G>T (p.Val34Leu)
2	g.219060368C>G	CA350637516	IHH	c.100G>C (p.Val34Leu)	gnomAD v4
2	g.219060368C>T	CA350637518	IHH	c.100G>A (p.Val34Met)	gnomAD v4
2	g.219060369C>A	CA431419535	IHH	c.99G>T (p.Val33=)	gnomAD v4
2	g.219060369C>G	CA431419538	IHH	c.99G>C (p.Val33=)
2	g.219060369C>T	CA431419539	IHH	c.99G>A (p.Val33=)
2	g.219060370A=	CA1329042666	IHH	c.98T= (p.Val33=)
2	g.219060370A>C	CA65951376	IHH	c.98T>G (p.Val33Gly)	dbSNP
2	g.219060370A>G	CA350637520	IHH	c.98T>C (p.Val33Ala)	dbSNP gnomAD v2 gnomAD v4
2	g.219060370A>T	CA350637522	IHH	c.98T>A (p.Val33Glu)
2	g.219060371C>A	CA350637527	IHH	c.97G>T (p.Val33Leu)
2	g.219060371C>G	CA350637524	IHH	c.97G>C (p.Val33Leu)
2	g.219060371C>T	CA350637525	IHH	c.97G>A (p.Val33Met)	gnomAD v4
2	g.219060372C>A	CA431419548	IHH	c.96G>T (p.Arg32=)
2	g.219060372C>G	CA431419555	IHH	c.96G>C (p.Arg32=)
2	g.219060372C>T	CA431419552	IHH	c.96G>A (p.Arg32=)	gnomAD v4
2	g.219060373C>A	CA350637528	IHH	c.95G>T (p.Arg32Leu)	gnomAD v4
2	g.219060373C=	CA1329042667	IHH	c.95G= (p.Arg32=)
2	g.219060373C>G	CA2116774	IHH	c.95G>C (p.Arg32Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060373C>T	CA350637530	IHH	c.95G>A (p.Arg32Gln)	gnomAD v4
2	g.219060374G>A	CA350637532	IHH	c.94C>T (p.Arg32Trp)	dbSNP gnomAD v2 gnomAD v4
2	g.219060374G>C	CA350637535	IHH	c.94C>G (p.Arg32Gly)	dbSNP
2	g.219060374G=	CA1329042668	IHH	c.94C= (p.Arg32=)
2	g.219060374G>T	CA431419561	IHH	c.94C>A (p.Arg32=)	gnomAD v4
2	g.219060375A>C	CA431419562	IHH	c.93T>G (p.Gly31=)	dbSNP
2	g.219060375A>G	CA431419563	IHH	c.93T>C (p.Gly31=)
2	g.219060375A>T	CA431419565	IHH	c.93T>A (p.Gly31=)
2	g.219060375_219060376delinsAC	CA1329042669	IHH	c.92_93delinsGT (p.Gly31=)
2	g.219060376C>A	CA350637540	IHH	c.92G>T (p.Gly31Val)	gnomAD v4
2	g.219060376C>G	CA350637538	IHH	c.92G>C (p.Gly31Ala)
2	g.219060376C>T	CA350637539	IHH	c.92G>A (p.Gly31Asp)	gnomAD v4
2	g.219060378del	CA539841236	IHH	c.92del (p.Gly31ValfsTer?)	dbSNP gnomAD v2 gnomAD v4
2	g.219060377C>A	CA350637542	IHH	c.91G>T (p.Gly31Cys)
2	g.219060377C=	CA1329042670	IHH	c.91G= (p.Gly31=)
2	g.219060377C>G	CA65951383	IHH	c.91G>C (p.Gly31Arg)	dbSNP
2	g.219060377C>T	CA350637545	IHH	c.91G>A (p.Gly31Ser)
2	g.219060378C>A	CA65951389	IHH	c.90G>T (p.Pro30=)	dbSNP gnomAD v4
2	g.219060378C=	CA1329042671	IHH	c.90G= (p.Pro30=)
2	g.219060378C>G	CA431419578	IHH	c.90G>C (p.Pro30=)	dbSNP gnomAD v4
2	g.219060378C>T	CA431419579	IHH	c.90G>A (p.Pro30=)	dbSNP gnomAD v4
2	g.219060379G>A	CA350637547	IHH	c.89C>T (p.Pro30Leu)	ClinVar dbSNP gnomAD v4
2	g.219060379G>C	CA350637549	IHH	c.89C>G (p.Pro30Arg)
2	g.219060379G=	CA1329042672	IHH	c.89C= (p.Pro30=)
2	g.219060379G>T	CA350637551	IHH	c.89C>A (p.Pro30Gln)	gnomAD v4
2	g.219060380G>A	CA350637553	IHH	c.88C>T (p.Pro30Ser)	dbSNP gnomAD v4 COSMIC
2	g.219060380G>C	CA350637555	IHH	c.88C>G (p.Pro30Ala)
2	g.219060380G=	CA1329042673	IHH	c.88C= (p.Pro30=)
2	g.219060380G>T	CA350637556	IHH	c.88C>A (p.Pro30Thr)	ClinVar dbSNP gnomAD v4
2	g.219060381C>A	CA431419592	IHH	c.87G>T (p.Gly29=)	gnomAD v4
2	g.219060381C>G	CA431419593	IHH	c.87G>C (p.Gly29=)
2	g.219060381C>T	CA431419596	IHH	c.87G>A (p.Gly29=)	gnomAD v4
2	g.219060383del	CA2663195131	IHH	c.87del (p.Pro30ArgfsTer?)	gnomAD v4
2	g.219060382C>A	CA350637557	IHH	c.86G>T (p.Gly29Val)
2	g.219060382C>G	CA350637559	IHH	c.86G>C (p.Gly29Ala)
2	g.219060382C>T	CA350637561	IHH	c.86G>A (p.Gly29Glu)
2	g.219060383C>A	CA350637563	IHH	c.85G>T (p.Gly29Trp)
2	g.219060383C=	CA1329042674	IHH	c.85G= (p.Gly29=)
2	g.219060383C>G	CA350637565	IHH	c.85G>C (p.Gly29Arg)
2	g.219060383C>T	CA2116775	IHH	c.85G>A (p.Gly29Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060384G>A	CA431419605	IHH	c.84C>T (p.Cys28=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219060384G>C	CA350637566	IHH	c.84C>G (p.Cys28Trp)
2	g.219060384G=	CA1329042675	IHH	c.84C= (p.Cys28=)
2	g.219060384G>T	CA350637568	IHH	c.84C>A (p.Cys28Ter)	gnomAD v4
2	g.219060385C>A	CA350637570	IHH	c.83G>T (p.Cys28Phe)
2	g.219060385C=	CA1329042676	IHH	c.83G= (p.Cys28=)
2	g.219060385C>G	CA350637571	IHH	c.83G>C (p.Cys28Ser)
2	g.219060385C>T	CA2116776	IHH	c.83G>A (p.Cys28Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060386A=	CA1329042677	IHH	c.82T= (p.Cys28=)
2	g.219060386A>C	CA350637573	IHH	c.82T>G (p.Cys28Gly)	dbSNP
2	g.219060386A>G	CA350637575	IHH	c.82T>C (p.Cys28Arg)
2	g.219060386A>T	CA2116777	IHH	c.82T>A (p.Cys28Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060387G>A	CA431419607	IHH	c.81C>T (p.Gly27=)	gnomAD v4
2	g.219060387G>C	CA431419608	IHH	c.81C>G (p.Gly27=)
2	g.219060387G>T	CA431419609	IHH	c.81C>A (p.Gly27=)	gnomAD v4
2	g.219060388C>A	CA350637578	IHH	c.80G>T (p.Gly27Val)
2	g.219060388C=	CA1329042678	IHH	c.80G= (p.Gly27=)
2	g.219060388C>G	CA350637579	IHH	c.80G>C (p.Gly27Ala)
2	g.219060388C>T	CA350637581	IHH	c.80G>A (p.Gly27Asp)	dbSNP
2	g.219060391del	CA2663195138	IHH	c.80del (p.Gly27AlafsTer?)	gnomAD v4
2	g.219060389C>A	CA350637586	IHH	c.79G>T (p.Gly27Cys)
2	g.219060389C>G	CA350637584	IHH	c.79G>C (p.Gly27Arg)
2	g.219060389C>T	CA350637583	IHH	c.79G>A (p.Gly27Ser)
2	g.219060389_219060415delinsCCCATGCCGCCGGCACCACCAGCAGCA	CA1329042679	IHH	c.53_79delinsTGCTGCTGGTGGTGCCGGCGGCATGGG (p.Leu18=)
2	g.219060390C>A	CA350637588	IHH	c.78G>T (p.Trp26Cys)
2	g.219060390C>G	CA350637589	IHH	c.78G>C (p.Trp26Cys)
2	g.219060390C>T	CA350637591	IHH	c.78G>A (p.Trp26Ter)	gnomAD v4
2	g.219060390_219060415delinsGGCCC	CA915941730	IHH	c.53_78delinsGGGCC (p.Leu18_Trp26delinsArgAla)	ClinVar dbSNP
2	g.219060391C>A	CA350637593	IHH	c.77G>T (p.Trp26Leu)
2	g.219060391C>G	CA350637594	IHH	c.77G>C (p.Trp26Ser)
2	g.219060391C>T	CA350637596	IHH	c.77G>A (p.Trp26Ter)	ClinVar dbSNP
2	g.219060392A>C	CA350637597	IHH	c.76T>G (p.Trp26Gly)	dbSNP
2	g.219060392A>G	CA350637599	IHH	c.76T>C (p.Trp26Arg)	gnomAD v4
2	g.219060392A>T	CA350637601	IHH	c.76T>A (p.Trp26Arg)
2	g.219060393T>A	CA431419626	IHH	c.75A>T (p.Ala25=)
2	g.219060393T>C	CA431419627	IHH	c.75A>G (p.Ala25=)	gnomAD v4
2	g.219060393T>G	CA431419629	IHH	c.75A>C (p.Ala25=)
2	g.219060394G>A	CA350637603	IHH	c.74C>T (p.Ala25Val)	gnomAD v4
2	g.219060394G>C	CA350637605	IHH	c.74C>G (p.Ala25Gly)	dbSNP
2	g.219060394G>T	CA350637607	IHH	c.74C>A (p.Ala25Glu)	gnomAD v4
2	g.219060395C>A	CA65951406	IHH	c.73G>T (p.Ala25Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219060395C=	CA1329042680	IHH	c.73G= (p.Ala25=)
2	g.219060395C>G	CA350637610	IHH	c.73G>C (p.Ala25Pro)
2	g.219060395C>T	CA350637609	IHH	c.73G>A (p.Ala25Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219060396C>A	CA431419640	IHH	c.72G>T (p.Ala24=)	gnomAD v4
2	g.219060396C>G	CA431419641	IHH	c.72G>C (p.Ala24=)
2	g.219060396C>T	CA431419642	IHH	c.72G>A (p.Ala24=)	gnomAD v4
2	g.219060397G>A	CA350637613	IHH	c.71C>T (p.Ala24Val)	gnomAD v4
2	g.219060397G>C	CA350637616	IHH	c.71C>G (p.Ala24Gly)
2	g.219060397G=	CA1329042681	IHH	c.71C= (p.Ala24=)
2	g.219060397G>T	CA350637615	IHH	c.71C>A (p.Ala24Glu)	dbSNP gnomAD v4
2	g.219060398C>A	CA350637618	IHH	c.70G>T (p.Ala24Ser)
2	g.219060398C=	CA1329042682	IHH	c.70G= (p.Ala24=)
2	g.219060398C>G	CA350637620	IHH	c.70G>C (p.Ala24Pro)
2	g.219060398C>T	CA350637621	IHH	c.70G>A (p.Ala24Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.219060399C>A	CA431419648	IHH	c.69G>T (p.Pro23=)
2	g.219060399C>G	CA431419650	IHH	c.69G>C (p.Pro23=)	gnomAD v4
2	g.219060399C>T	CA431419651	IHH	c.69G>A (p.Pro23=)
2	g.219060400G>A	CA65951411	IHH	c.68C>T (p.Pro23Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.219060400G>C	CA350637623	IHH	c.68C>G (p.Pro23Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.219060400G=	CA1329042683	IHH	c.68C= (p.Pro23=)
2	g.219060400G>T	CA350637624	IHH	c.68C>A (p.Pro23Gln)	gnomAD v4
2	g.219060401G>A	CA350637626	IHH	c.67C>T (p.Pro23Ser)
2	g.219060401G>C	CA350637627	IHH	c.67C>G (p.Pro23Ala)	gnomAD v4
2	g.219060401G>T	CA350637629	IHH	c.67C>A (p.Pro23Thr)	gnomAD v4
2	g.219060401_219060404delinsGCAC	CA1329042684	IHH	c.64_67delinsGTGC (p.Val22=)
2	g.219060402C>A	CA431419657	IHH	c.66G>T (p.Val22=)
2	g.219060402C>G	CA431419659	IHH	c.66G>C (p.Val22=)
2	g.219060402C>T	CA431419660	IHH	c.66G>A (p.Val22=)	gnomAD v4
2	g.219060407_219060409del	CA1329042685	IHH	c.64_66del (p.Val22del)	dbSNP
2	g.219060403A>C	CA350637631	IHH	c.65T>G (p.Val22Gly)	gnomAD v4
2	g.219060403A>G	CA350637632	IHH	c.65T>C (p.Val22Ala)
2	g.219060403A>T	CA350637634	IHH	c.65T>A (p.Val22Glu)
2	g.219060404C>A	CA350637639	IHH	c.64G>T (p.Val22Leu)
2	g.219060404C>G	CA350637637	IHH	c.64G>C (p.Val22Leu)
2	g.219060404C>T	CA350637638	IHH	c.64G>A (p.Val22Met)
2	g.219060405C>A	CA431419665	IHH	c.63G>T (p.Val21=)
2	g.219060405C>G	CA431419666	IHH	c.63G>C (p.Val21=)
2	g.219060405C>T	CA431419667	IHH	c.63G>A (p.Val21=)
2	g.219060406A>C	CA350637642	IHH	c.62T>G (p.Val21Gly)
2	g.219060406A>G	CA350637643	IHH	c.62T>C (p.Val21Ala)	gnomAD v4
2	g.219060406A>T	CA350637645	IHH	c.62T>A (p.Val21Glu)
2	g.219060407C>A	CA350637647	IHH	c.61G>T (p.Val21Leu)	gnomAD v4
2	g.219060407C=	CA1329042686	IHH	c.61G= (p.Val21=)
2	g.219060407C>G	CA350637649	IHH	c.61G>C (p.Val21Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060407C>T	CA350637650	IHH	c.61G>A (p.Val21Met)	gnomAD v4
2	g.219060408C>A	CA431419678	IHH	c.60G>T (p.Leu20=)	gnomAD v4
2	g.219060408C=	CA1329042687	IHH	c.60G= (p.Leu20=)
2	g.219060408C>G	CA431419679	IHH	c.60G>C (p.Leu20=)
2	g.219060408C>T	CA431419680	IHH	c.60G>A (p.Leu20=)	dbSNP gnomAD v2
2	g.219060416_219060418del	CA2663195157	IHH	c.58_60del (p.Leu20del)	gnomAD v4
2	g.219060409A>C	CA350637652	IHH	c.59T>G (p.Leu20Arg)
2	g.219060409A>G	CA350637653	IHH	c.59T>C (p.Leu20Pro)	gnomAD v4
2	g.219060409A>T	CA350637654	IHH	c.59T>A (p.Leu20Gln)
2	g.219060410G>A	CA431419685	IHH	c.58C>T (p.Leu20=)	gnomAD v4
2	g.219060410G>C	CA350637656	IHH	c.58C>G (p.Leu20Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.219060410G=	CA1329042688	IHH	c.58C= (p.Leu20=)
2	g.219060410G>T	CA350637658	IHH	c.58C>A (p.Leu20Met)
2	g.219060411C>A	CA431419688	IHH	c.57G>T (p.Leu19=)
2	g.219060411C>G	CA431419690	IHH	c.57G>C (p.Leu19=)
2	g.219060411C>T	CA431419691	IHH	c.57G>A (p.Leu19=)
2	g.219060412A>C	CA350637663	IHH	c.56T>G (p.Leu19Arg)
2	g.219060412A>G	CA350637661	IHH	c.56T>C (p.Leu19Pro)
2	g.219060412A>T	CA350637659	IHH	c.56T>A (p.Leu19Gln)
2	g.219060413G>A	CA431419693	IHH	c.55C>T (p.Leu19=)	dbSNP gnomAD v4
2	g.219060413G>C	CA350637665	IHH	c.55C>G (p.Leu19Val)
2	g.219060413G=	CA1329042689	IHH	c.55C= (p.Leu19=)
2	g.219060413G>T	CA350637666	IHH	c.55C>A (p.Leu19Met)
2	g.219060414C>A	CA431419696	IHH	c.54G>T (p.Leu18=)	gnomAD v4
2	g.219060414C>G	CA431419695	IHH	c.54G>C (p.Leu18=)
2	g.219060414C>T	CA431419694	IHH	c.54G>A (p.Leu18=)	gnomAD v4
2	g.219060415A>C	CA350637668	IHH	c.53T>G (p.Leu18Arg)
2	g.219060415A>G	CA350637669	IHH	c.53T>C (p.Leu18Pro)
2	g.219060415A>T	CA350637671	IHH	c.53T>A (p.Leu18Gln)
2	g.219060416G>A	CA431419697	IHH	c.52C>T (p.Leu18=)	dbSNP gnomAD v3 gnomAD v4
2	g.219060416G>C	CA350637672	IHH	c.52C>G (p.Leu18Val)
2	g.219060416G=	CA1329042690	IHH	c.52C= (p.Leu18=)
2	g.219060416G>T	CA350637674	IHH	c.52C>A (p.Leu18Met)	gnomAD v4
2	g.219060417C>A	CA350637676	IHH	c.51G>T (p.Leu17Phe)	gnomAD v4
2	g.219060417C>G	CA350637678	IHH	c.51G>C (p.Leu17Phe)	gnomAD v4
2	g.219060417C>T	CA431419699	IHH	c.51G>A (p.Leu17=)
2	g.219060419_219060421del	CA2663195165	IHH	c.49_51del (p.Leu17del)	gnomAD v4
2	g.219060418A>C	CA350637679	IHH	c.50T>G (p.Leu17Trp)
2	g.219060418A>G	CA350637681	IHH	c.50T>C (p.Leu17Ser)
2	g.219060418A>T	CA350637682	IHH	c.50T>A (p.Leu17Ter)	gnomAD v4
2	g.219060419A>C	CA350637684	IHH	c.49T>G (p.Leu17Val)
2	g.219060419A>G	CA431419703	IHH	c.49T>C (p.Leu17=)
2	g.219060419A>T	CA350637686	IHH	c.49T>A (p.Leu17Met)
2	g.219060419_219060425delinsACAGGAC	CA1329042691	IHH	c.43_49delinsGTCCTGT (p.Val15=)
2	g.219060420C>A	CA431419704	IHH	c.48G>T (p.Leu16=)
2	g.219060420C=	CA1329042692	IHH	c.48G= (p.Leu16=)
2	g.219060420C>G	CA431419705	IHH	c.48G>C (p.Leu16=)
2	g.219060420C>T	CA431419706	IHH	c.48G>A (p.Leu16=)	dbSNP gnomAD v3 gnomAD v4
2	g.219060424_219060429del	CA539841237	IHH	c.43_48del (p.Val15_Leu16del)	dbSNP gnomAD v2
2	g.219060421A>C	CA350637687	IHH	c.47T>G (p.Leu16Arg)
2	g.219060421A>G	CA350637689	IHH	c.47T>C (p.Leu16Pro)	gnomAD v4
2	g.219060421A>T	CA350637688	IHH	c.47T>A (p.Leu16Gln)
2	g.219060422G>A	CA431419708	IHH	c.46C>T (p.Leu16=)
2	g.219060422G>C	CA350637691	IHH	c.46C>G (p.Leu16Val)
2	g.219060422G>T	CA350637693	IHH	c.46C>A (p.Leu16Met)
2	g.219060423G>A	CA2116778	IHH	c.45C>T (p.Val15=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060423G>C	CA431419712	IHH	c.45C>G (p.Val15=)
2	g.219060423G=	CA1329042693	IHH	c.45C= (p.Val15=)
2	g.219060423G>T	CA431419714	IHH	c.45C>A (p.Val15=)	gnomAD v4
2	g.219060423_219060425del	CA2562730340	IHH	c.43_45del (p.Val15del)
2	g.219060424A>C	CA350637695	IHH	c.44T>G (p.Val15Gly)
2	g.219060424A>G	CA350637696	IHH	c.44T>C (p.Val15Ala)	gnomAD v4
2	g.219060424A>T	CA350637698	IHH	c.44T>A (p.Val15Asp)
2	g.219060425C>A	CA350637700	IHH	c.43G>T (p.Val15Phe)
2	g.219060425C>G	CA350637702	IHH	c.43G>C (p.Val15Leu)	dbSNP gnomAD v4
2	g.219060425C>T	CA350637703	IHH	c.43G>A (p.Val15Ile)
2	g.219060426C>A	CA431419720	IHH	c.42G>T (p.Leu14=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060426C=	CA1329042694	IHH	c.42G= (p.Leu14=)
2	g.219060426C>G	CA431419721	IHH	c.42G>C (p.Leu14=)
2	g.219060426C>T	CA431419722	IHH	c.42G>A (p.Leu14=)	gnomAD v4
2	g.219060427A>C	CA350637705	IHH	c.41T>G (p.Leu14Arg)
2	g.219060427A>G	CA350637706	IHH	c.41T>C (p.Leu14Pro)
2	g.219060427A>T	CA350637708	IHH	c.41T>A (p.Leu14Gln)
2	g.219060428G>A	CA431419726	IHH	c.40C>T (p.Leu14=)
2	g.219060428G>C	CA350637710	IHH	c.40C>G (p.Leu14Val)	dbSNP gnomAD v4
2	g.219060428G=	CA1329042695	IHH	c.40C= (p.Leu14=)
2	g.219060428G>T	CA350637712	IHH	c.40C>A (p.Leu14Met)	gnomAD v4
2	g.219060429G>A	CA431419729	IHH	c.39C>T (p.Cys13=)	dbSNP gnomAD v2 gnomAD v4
2	g.219060429G>C	CA350637714	IHH	c.39C>G (p.Cys13Trp)
2	g.219060429G=	CA1329042696	IHH	c.39C= (p.Cys13=)
2	g.219060429G>T	CA350637716	IHH	c.39C>A (p.Cys13Ter)	gnomAD v4
2	g.219060430C>A	CA350637718	IHH	c.38G>T (p.Cys13Phe)
2	g.219060430C>G	CA350637721	IHH	c.38G>C (p.Cys13Ser)
2	g.219060430C>T	CA350637720	IHH	c.38G>A (p.Cys13Tyr)
2	g.219060431A=	CA1329042697	IHH	c.37T= (p.Cys13=)
2	g.219060431A>C	CA350637723	IHH	c.37T>G (p.Cys13Gly)
2	g.219060431A>G	CA2116779	IHH	c.37T>C (p.Cys13Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060431A>T	CA350637725	IHH	c.37T>A (p.Cys13Ser)
2	g.219060432G>A	CA431419736	IHH	c.36C>T (p.Phe12=)	gnomAD v4
2	g.219060432G>C	CA350637728	IHH	c.36C>G (p.Phe12Leu)
2	g.219060432G>T	CA350637730	IHH	c.36C>A (p.Phe12Leu)	gnomAD v4
2	g.219060433A>C	CA350637732	IHH	c.35T>G (p.Phe12Cys)
2	g.219060433A>G	CA350637733	IHH	c.35T>C (p.Phe12Ser)
2	g.219060433A>T	CA350637734	IHH	c.35T>A (p.Phe12Tyr)
2	g.219060434A>C	CA350637736	IHH	c.34T>G (p.Phe12Val)
2	g.219060434A>G	CA350637737	IHH	c.34T>C (p.Phe12Leu)
2	g.219060434A>T	CA350637739	IHH	c.34T>A (p.Phe12Ile)
2	g.219060435G>A	CA431419741	IHH	c.33C>T (p.His11=)	dbSNP gnomAD v2 gnomAD v4
2	g.219060435G>C	CA350637740	IHH	c.33C>G (p.His11Gln)
2	g.219060435G=	CA1329042698	IHH	c.33C= (p.His11=)
2	g.219060435G>T	CA350637742	IHH	c.33C>A (p.His11Gln)
2	g.219060436T>A	CA350637747	IHH	c.32A>T (p.His11Leu)
2	g.219060436T>C	CA350637745	IHH	c.32A>G (p.His11Arg)
2	g.219060436T>G	CA350637743	IHH	c.32A>C (p.His11Pro)
2	g.219060437G>A	CA350637748	IHH	c.31C>T (p.His11Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060437G>C	CA350637750	IHH	c.31C>G (p.His11Asp)
2	g.219060437G=	CA1329042699	IHH	c.31C= (p.His11=)
2	g.219060437G>T	CA2116780	IHH	c.31C>A (p.His11Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060438C>A	CA431419753	IHH	c.30G>T (p.Leu10=)	gnomAD v4
2	g.219060438C>G	CA431419751	IHH	c.30G>C (p.Leu10=)
2	g.219060438C>T	CA431419749	IHH	c.30G>A (p.Leu10=)	gnomAD v4
2	g.219060439A>C	CA350637753	IHH	c.29T>G (p.Leu10Arg)
2	g.219060439A>G	CA350637754	IHH	c.29T>C (p.Leu10Pro)	gnomAD v4
2	g.219060439A>T	CA350637756	IHH	c.29T>A (p.Leu10Gln)
2	g.219060440G>A	CA431419756	IHH	c.28C>T (p.Leu10=)
2	g.219060440G>C	CA350637757	IHH	c.28C>G (p.Leu10Val)
2	g.219060440G=	CA1329042700	IHH	c.28C= (p.Leu10=)
2	g.219060440G>T	CA350637758	IHH	c.28C>A (p.Leu10Met)	dbSNP gnomAD v2 gnomAD v4
2	g.219060441T>A	CA431419759	IHH	c.27A>T (p.Arg9=)
2	g.219060441T>C	CA2116781	IHH	c.27A>G (p.Arg9=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060441T>G	CA431419767	IHH	c.27A>C (p.Arg9=)	dbSNP gnomAD v4
2	g.219060441T=	CA1329042701	IHH	c.27A= (p.Arg9=)
2	g.219060442C>A	CA350637760	IHH	c.26G>T (p.Arg9Leu)	gnomAD v4
2	g.219060442C=	CA1329042702	IHH	c.26G= (p.Arg9=)
2	g.219060442C>G	CA350637762	IHH	c.26G>C (p.Arg9Pro)	gnomAD v4
2	g.219060442C>T	CA2116782	IHH	c.26G>A (p.Arg9Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060445_219060450dup	CA539841238	IHH	c.21_26dup (p.Arg9_Leu10insProArg)	dbSNP gnomAD v2 gnomAD v4
2	g.219060443G>A	CA350637765	IHH	c.25C>T (p.Arg9Ter)	dbSNP gnomAD v2 gnomAD v4
2	g.219060443G>C	CA65951429	IHH	c.25C>G (p.Arg9Gly)	dbSNP gnomAD v2 gnomAD v4
2	g.219060443G=	CA1329042703	IHH	c.25C= (p.Arg9=)
2	g.219060443G>T	CA431419779	IHH	c.25C>A (p.Arg9=)	ClinVar dbSNP gnomAD v4
2	g.219060446del	CA2663195191	IHH	c.25del (p.Arg9AspfsTer?)	gnomAD v4
2	g.219060444G>A	CA431419782	IHH	c.24C>T (p.Pro8=)	ClinVar gnomAD v4
2	g.219060444G>C	CA431419783	IHH	c.24C>G (p.Pro8=)
2	g.219060444G>T	CA431419785	IHH	c.24C>A (p.Pro8=)	gnomAD v4
2	g.219060445G>A	CA350637767	IHH	c.23C>T (p.Pro8Leu)	gnomAD v4
2	g.219060445G>C	CA350637769	IHH	c.23C>G (p.Pro8Arg)
2	g.219060445G=	CA1329042704	IHH	c.23C= (p.Pro8=)
2	g.219060445G>T	CA350637770	IHH	c.23C>A (p.Pro8His)	dbSNP gnomAD v2 gnomAD v4
2	g.219060446G>A	CA350637773	IHH	c.22C>T (p.Pro8Ser)	gnomAD v4
2	g.219060446G>C	CA350637774	IHH	c.22C>G (p.Pro8Ala)	gnomAD v4
2	g.219060446G=	CA1329042705	IHH	c.22C= (p.Pro8=)
2	g.219060446G>T	CA350637776	IHH	c.22C>A (p.Pro8Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.219060447C>A	CA431419794	IHH	c.21G>T (p.Arg7=)	gnomAD v4
2	g.219060447C>G	CA431419796	IHH	c.21G>C (p.Arg7=)
2	g.219060447C>T	CA431419797	IHH	c.21G>A (p.Arg7=)	gnomAD v4
2	g.219060448C>A	CA350637778	IHH	c.20G>T (p.Arg7Leu)
2	g.219060448C=	CA1329042706	IHH	c.20G= (p.Arg7=)
2	g.219060448C>G	CA350637780	IHH	c.20G>C (p.Arg7Pro)	dbSNP
2	g.219060448C>T	CA2116783	IHH	c.20G>A (p.Arg7Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060449G>A	CA350637782	IHH	c.19C>T (p.Arg7Trp)	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.219060449G>C	CA350637783	IHH	c.19C>G (p.Arg7Gly)	gnomAD v4
2	g.219060449G=	CA1329042707	IHH	c.19C= (p.Arg7=)
2	g.219060449G>T	CA431419805	IHH	c.19C>A (p.Arg7=)	gnomAD v4

Number of alleles fetched