Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.219060095G>T	CA2663194968	IHH	c.315+58C>A (n.315+58C>A)	gnomAD v4
2	g.219060100_219060111del	CA2523046360	IHH	c.315+47_315+58del (n.315+47_315+58del)
2	g.219060096G>A	CA764945817	IHH	c.315+57C>T (n.315+57C>T)	dbSNP gnomAD v4
2	g.219060096G>C	CA2663194969	IHH	c.315+57C>G (n.315+57C>G)	gnomAD v4
2	g.219060096G=	CA1329042524	IHH	c.315+57C= (n.315+57C=)
2	g.219060096G>T	CA2577248555	IHH	c.315+57C>A (n.315+57C>A)	gnomAD v4
2	g.219060097C>A	CA2663194970	IHH	c.315+56G>T (n.315+56G>T)	gnomAD v4
2	g.219060097C=	CA1329042525	IHH	c.315+56G= (n.315+56G=)
2	g.219060097C>T	CA764945818	IHH	c.315+56G>A (n.315+56G>A)	dbSNP gnomAD v4
2	g.219060098C>A	CA2663194971	IHH	c.315+55G>T (n.315+55G>T)	gnomAD v4
2	g.219060098C=	CA1329042526	IHH	c.315+55G= (n.315+55G=)
2	g.219060098C>T	CA1329042527	IHH	c.315+55G>A (n.315+55G>A)	dbSNP gnomAD v4
2	g.219060099G>A	CA65951021	IHH	c.315+54C>T (n.315+54C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060099G>C	CA1042494016	IHH	c.315+54C>G (n.315+54C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.219060099G=	CA1329042528	IHH	c.315+54C= (n.315+54C=)
2	g.219060099G>T	CA65951028	IHH	c.315+54C>A (n.315+54C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060101del	CA2663194972	IHH	c.315+54del (n.315+54del)	gnomAD v4
2	g.219060100G>A	CA2663194973	IHH	c.315+53C>T (n.315+53C>T)	gnomAD v4
2	g.219060100G>C	CA2754315614	IHH	c.315+53C>G (n.315+53C>G)
2	g.219060100G>T	CA2663194974	IHH	c.315+53C>A (n.315+53C>A)	gnomAD v4
2	g.219060101G>A	CA2663194975	IHH	c.315+52C>T (n.315+52C>T)	gnomAD v4
2	g.219060101G>T	CA2577248556	IHH	c.315+52C>A (n.315+52C>A)	gnomAD v4
2	g.219060102C>A	CA2663194976	IHH	c.315+51G>T (n.315+51G>T)	gnomAD v4
2	g.219060102C=	CA1329042529	IHH	c.315+51G= (n.315+51G=)
2	g.219060102C>T	CA2116720	IHH	c.315+51G>A (n.315+51G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060103A=	CA1329042530	IHH	c.315+50T= (n.315+50T=)
2	g.219060103A>G	CA2663194977	IHH	c.315+50T>C (n.315+50T>C)	gnomAD v4
2	g.219060103A>T	CA1329042531	IHH	c.315+50T>A (n.315+50T>A)	dbSNP
2	g.219060104G>A	CA2116721	IHH	c.315+49C>T (n.315+49C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060104G=	CA1329042532	IHH	c.315+49C= (n.315+49C=)
2	g.219060104G>T	CA2663194979	IHH	c.315+49C>A (n.315+49C>A)	gnomAD v4
2	g.219060104_219060105insCCCG	CA2663194978	IHH	c.315+49_315+50insGGGC (n.315+49_315+50insGGGC)	gnomAD v4
2	g.219060110_219060123del	CA2577248557	IHH	c.315+36_315+49del (n.315+36_315+49del)
2	g.219060105G>A	CA2663194980	IHH	c.315+48C>T (n.315+48C>T)	gnomAD v4
2	g.219060105G>T	CA2663194981	IHH	c.315+48C>A (n.315+48C>A)	gnomAD v4
2	g.219060106T>C	CA1329042534	IHH	c.315+47A>G (n.315+47A>G)	dbSNP
2	g.219060106T=	CA1329042533	IHH	c.315+47A= (n.315+47A=)
2	g.219060107G>A	CA2663194982	IHH	c.315+46C>T (n.315+46C>T)	gnomAD v4
2	g.219060107G>T	CA2663194983	IHH	c.315+46C>A (n.315+46C>A)	gnomAD v4
2	g.219060108G>A	CA1329042536	IHH	c.315+45C>T (n.315+45C>T)	dbSNP gnomAD v4
2	g.219060108G=	CA1329042535	IHH	c.315+45C= (n.315+45C=)
2	g.219060108G>T	CA539841229	IHH	c.315+45C>A (n.315+45C>A)	dbSNP gnomAD v2 gnomAD v4
2	g.219060109C>A	CA2663194984	IHH	c.315+44G>T (n.315+44G>T)	gnomAD v4
2	g.219060109C>T	CA2577248558	IHH	c.315+44G>A (n.315+44G>A)	gnomAD v4
2	g.219060110C>A	CA2663194985	IHH	c.315+43G>T (n.315+43G>T)	gnomAD v4
2	g.219060110C=	CA1329042538	IHH	c.315+43G= (n.315+43G=)
2	g.219060110C>G	CA1329042537	IHH	c.315+43G>C (n.315+43G>C)	dbSNP
2	g.219060110C>T	CA2116722	IHH	c.315+43G>A (n.315+43G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060111G>A	CA539841230	IHH	c.315+42C>T (n.315+42C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060111G=	CA1329042539	IHH	c.315+42C= (n.315+42C=)
2	g.219060111G>T	CA2663194986	IHH	c.315+42C>A (n.315+42C>A)	gnomAD v4
2	g.219060112T>C	CA1329042541	IHH	c.315+41A>G (n.315+41A>G)	dbSNP
2	g.219060112T=	CA1329042540	IHH	c.315+41A= (n.315+41A=)
2	g.219060113G>A	CA2663194987	IHH	c.315+40C>T (n.315+40C>T)	gnomAD v4
2	g.219060113G>T	CA2663194988	IHH	c.315+40C>A (n.315+40C>A)	gnomAD v4
2	g.219060114C>A	CA2663194989	IHH	c.315+39G>T (n.315+39G>T)	gnomAD v4
2	g.219060114C=	CA1329042542	IHH	c.315+39G= (n.315+39G=)
2	g.219060114C>T	CA764945833	IHH	c.315+39G>A (n.315+39G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.219060115T>C	CA2577248559	IHH	c.315+38A>G (n.315+38A>G)	gnomAD v4
2	g.219060116T>G	CA65951042	IHH	c.315+37A>C (n.315+37A>C)	dbSNP gnomAD v4
2	g.219060116T=	CA1329042543	IHH	c.315+37A= (n.315+37A=)
2	g.219060117C>A	CA2663194990	IHH	c.315+36G>T (n.315+36G>T)	gnomAD v4
2	g.219060117C>T	CA2663194991	IHH	c.315+36G>A (n.315+36G>A)	gnomAD v4
2	g.219060118G>A	CA2663194992	IHH	c.315+35C>T (n.315+35C>T)	gnomAD v4
2	g.219060118G>C	CA2116723	IHH	c.315+35C>G (n.315+35C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060118G=	CA1329042544	IHH	c.315+35C= (n.315+35C=)
2	g.219060118G>T	CA2663194993	IHH	c.315+35C>A (n.315+35C>A)	dbSNP gnomAD v4
2	g.219060119G>A	CA2663194994	IHH	c.315+34C>T (n.315+34C>T)	gnomAD v4
2	g.219060119G>T	CA2663194995	IHH	c.315+34C>A (n.315+34C>A)	gnomAD v4
2	g.219060120T>C	CA2577248560	IHH	c.315+33A>G (n.315+33A>G)	gnomAD v4
2	g.219060121G>A	CA2663194996	IHH	c.315+32C>T (n.315+32C>T)	gnomAD v4
2	g.219060121G>T	CA2663194997	IHH	c.315+32C>A (n.315+32C>A)	gnomAD v4
2	g.219060122G>T	CA2663194998	IHH	c.315+31C>A (n.315+31C>A)	gnomAD v4
2	g.219060123C>A	CA539841231	IHH	c.315+30G>T (n.315+30G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060123C=	CA1329042545	IHH	c.315+30G= (n.315+30G=)
2	g.219060123C>T	CA2116724	IHH	c.315+30G>A (n.315+30G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060124G>A	CA539841232	IHH	c.315+29C>T (n.315+29C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060124G>C	CA2116725	IHH	c.315+29C>G (n.315+29C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060124G=	CA1329042546	IHH	c.315+29C= (n.315+29C=)
2	g.219060124G>T	CA2663194999	IHH	c.315+29C>A (n.315+29C>A)	gnomAD v4
2	g.219060125_219060126insAGG	CA2754315616	IHH	c.315+29_315+30insTCC (n.315+29_315+30insTCC)
2	g.219060125G>A	CA539841233	IHH	c.315+28C>T (n.315+28C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060125G=	CA1329042547	IHH	c.315+28C= (n.315+28C=)
2	g.219060125G>T	CA2663195000	IHH	c.315+28C>A (n.315+28C>A)	gnomAD v4
2	g.219060126C>A	CA539841234	IHH	c.315+27G>T (n.315+27G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219060126C=	CA1329042548	IHH	c.315+27G= (n.315+27G=)
2	g.219060126C>T	CA2663195001	IHH	c.315+27G>A (n.315+27G>A)	gnomAD v4
2	g.219060127G>A	CA539841235	IHH	c.315+26C>T (n.315+26C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219060127G=	CA1329042549	IHH	c.315+26C= (n.315+26C=)
2	g.219060127G>T	CA647777319	IHH	c.315+26C>A (n.315+26C>A)	gnomAD v4 COSMIC
2	g.219060128C=	CA1329042550	IHH	c.315+25G= (n.315+25G=)
2	g.219060128C>T	CA2116726	IHH	c.315+25G>A (n.315+25G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060129G>A	CA2663195002	IHH	c.315+24C>T (n.315+24C>T)	gnomAD v4
2	g.219060129G>C	CA2577248561	IHH	c.315+24C>G (n.315+24C>G)
2	g.219060129G=	CA1329042551	IHH	c.315+24C= (n.315+24C=)
2	g.219060129G>T	CA1042494029	IHH	c.315+24C>A (n.315+24C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.219060130C>A	CA1329042553	IHH	c.315+23G>T (n.315+23G>T)	dbSNP gnomAD v4
2	g.219060130C=	CA1329042552	IHH	c.315+23G= (n.315+23G=)
2	g.219060131T>C	CA2663195003	IHH	c.315+22A>G (n.315+22A>G)	gnomAD v4
2	g.219060132G>T	CA2663195004	IHH	c.315+21C>A (n.315+21C>A)	gnomAD v4
2	g.219060132_219060133insTCCCCCTC	CA1042494030	IHH	c.315+20_315+21insGAGGGGGA (n.315+20_315+21insGAGGGGGA)	gnomAD v3 gnomAD v4
2	g.219060132_219060133insTCCCCCTCGGCGCCTCGACTCT	CA2754315618	IHH	c.315+20_315+21insAGAGTCGAGGCGCCGAGGGGGA (n.315+20_315+21insAGAGTCGAGGCGCCGAGGGGGA)
2	g.219060132_219060133insTCCCCCTCGGCGCCTCGACTCTGAGCT	CA2754315619	IHH	c.315+20_315+21insAGCTCAGAGTCGAGGCGCCGAGGGGGA (n.315+20_315+21insAGCTCAGAGTCGAGGCGCCGAGGGGGA)
2	g.219060133G>A	CA2663195005	IHH	c.315+20C>T (n.315+20C>T)	gnomAD v4
2	g.219060133G>C	CA2577248562	IHH	c.315+20C>G (n.315+20C>G)
2	g.219060133_219060134insGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAA	CA1042494031	IHH	c.315+19_315+20insTTTATTGGCGGCCGGCGAGCCCGGCAGCTCAGAGTCGAGGCGC (n.315+19_315+20insTTTATTGGCGGCCGGCGAGCCCGGCAGCTCAGAGTCGAGGCGC)	gnomAD v3 gnomAD v4
2	g.219060134T>C	CA2663195006	IHH	c.315+19A>G (n.315+19A>G)	gnomAD v4
2	g.219060134T>G	CA2577248563	IHH	c.315+19A>C (n.315+19A>C)
2	g.219060135A>G	CA2663195008	IHH	c.315+18T>C (n.315+18T>C)	gnomAD v4
2	g.219060136G>A	CA1329042555	IHH	c.315+17C>T (n.315+17C>T)	ClinVar dbSNP gnomAD v4
2	g.219060136G>C	CA65951068	IHH	c.315+17C>G (n.315+17C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060136G=	CA1329042554	IHH	c.315+17C= (n.315+17C=)
2	g.219060136G>T	CA2663195009	IHH	c.315+17C>A (n.315+17C>A)	gnomAD v4
2	g.219060137G>A	CA2116727	IHH	c.315+16C>T (n.315+16C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060137G=	CA1329042556	IHH	c.315+16C= (n.315+16C=)
2	g.219060137G>T	CA2663195010	IHH	c.315+16C>A (n.315+16C>A)	gnomAD v4
2	g.219060138G>A	CA2116728	IHH	c.315+15C>T (n.315+15C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060138G=	CA1329042557	IHH	c.315+15C= (n.315+15C=)
2	g.219060138G>T	CA2663195011	IHH	c.315+15C>A (n.315+15C>A)	gnomAD v4
2	g.219060139C>A	CA2663195012	IHH	c.315+14G>T (n.315+14G>T)	gnomAD v4
2	g.219060139C=	CA1329042558	IHH	c.315+14G= (n.315+14G=)
2	g.219060139C>T	CA65951108	IHH	c.315+14G>A (n.315+14G>A)	dbSNP gnomAD v4
2	g.219060140G>A	CA2116729	IHH	c.315+13C>T (n.315+13C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060140G=	CA1329042559	IHH	c.315+13C= (n.315+13C=)
2	g.219060140G>T	CA2116730	IHH	c.315+13C>A (n.315+13C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060141G>A	CA2116731	IHH	c.315+12C>T (n.315+12C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060141G=	CA1329042560	IHH	c.315+12C= (n.315+12C=)
2	g.219060142A=	CA1329042561	IHH	c.315+11T= (n.315+11T=)
2	g.219060142A>G	CA2577248564	IHH	c.315+11T>C (n.315+11T>C)
2	g.219060142A>T	CA65951142	IHH	c.315+11T>A (n.315+11T>A)	dbSNP
2	g.219060143T>C	CA2663195013	IHH	c.315+10A>G (n.315+10A>G)	gnomAD v4
2	g.219060144C>A	CA2116732	IHH	c.315+9G>T (n.315+9G>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060144C=	CA1329042562	IHH	c.315+9G= (n.315+9G=)
2	g.219060144C>G	CA2663195014	IHH	c.315+9G>C (n.315+9G>C)	gnomAD v4
2	g.219060144C>T	CA2116733	IHH	c.315+9G>A (n.315+9G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060145G>A	CA2116734	IHH	c.315+8C>T (n.315+8C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060145G>C	CA2581799699	IHH	c.315+8C>G (n.315+8C>G)
2	g.219060145G=	CA1329042563	IHH	c.315+8C= (n.315+8C=)
2	g.219060145G>T	CA2581799700	IHH	c.315+8C>A (n.315+8C>A)	gnomAD v4
2	g.219060146C>A	CA2663195015	IHH	c.315+7G>T (n.315+7G>T)	gnomAD v4
2	g.219060146C=	CA1329042564	IHH	c.315+7G= (n.315+7G=)
2	g.219060146C>T	CA2116735	IHH	c.315+7G>A (n.315+7G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060147G>A	CA2116736	IHH	c.315+6C>T (n.315+6C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060147G>C	CA2663195016	IHH	c.315+6C>G (n.315+6C>G)	gnomAD v4
2	g.219060147G=	CA1329042565	IHH	c.315+6C= (n.315+6C=)
2	g.219060147G>T	CA2663195017	IHH	c.315+6C>A (n.315+6C>A)	gnomAD v4
2	g.219060148C>A	CA2663195018	IHH	c.315+5G>T (n.315+5G>T)	gnomAD v4
2	g.219060148C>T	CA2663195019	IHH	c.315+5G>A (n.315+5G>A)	gnomAD v4
2	g.219060150C>A	CA2663195020	IHH	c.315+3G>T (n.315+3G>T)	gnomAD v4
2	g.219060150C>T	CA2663195021	IHH	c.315+3G>A (n.315+3G>A)	gnomAD v4
2	g.219060151A>C	CA350636602	IHH	c.315+2T>G (n.315+2T>G)
2	g.219060151A>G	CA350636604	IHH	c.315+2T>C (n.315+2T>C)
2	g.219060151A>T	CA350636603	IHH	c.315+2T>A (n.315+2T>A)
2	g.219060152C>A	CA350636605	IHH	c.315+1G>T (n.315+1G>T)
2	g.219060152C>G	CA350636607	IHH	c.315+1G>C (n.315+1G>C)
2	g.219060152C>T	CA350636606	IHH	c.315+1G>A (n.315+1G>A)
2	g.219060153C>A	CA350636608	IHH	c.315G>T (p.Gln105His)	gnomAD v4
2	g.219060153C=	CA1329042566	IHH	c.315G= (p.Gln105=)
2	g.219060153C>G	CA350636609	IHH	c.315G>C (p.Gln105His)
2	g.219060153C>T	CA431419725	IHH	c.315G>A (p.Gln105=)	dbSNP gnomAD v2 gnomAD v4
2	g.219060154T>A	CA350636610	IHH	c.314A>T (p.Gln105Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.219060154T>C	CA350636611	IHH	c.314A>G (p.Gln105Arg)	ClinVar
2	g.219060154T>G	CA350636612	IHH	c.314A>C (p.Gln105Pro)
2	g.219060154T=	CA1329042567	IHH	c.314A= (p.Gln105=)
2	g.219060155G>A	CA350636613	IHH	c.313C>T (p.Gln105Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060155G>C	CA350636614	IHH	c.313C>G (p.Gln105Glu)
2	g.219060155G=	CA1329042568	IHH	c.313C= (p.Gln105=)
2	g.219060155G>T	CA350636615	IHH	c.313C>A (p.Gln105Lys)	gnomAD v4
2	g.219060156G>A	CA431419733	IHH	c.312C>T (p.Thr104=)
2	g.219060156G>C	CA431419734	IHH	c.312C>G (p.Thr104=)	gnomAD v4
2	g.219060156G>T	CA431419735	IHH	c.312C>A (p.Thr104=)
2	g.219060157G>A	CA350636616	IHH	c.311C>T (p.Thr104Ile)
2	g.219060157G>C	CA350636617	IHH	c.311C>G (p.Thr104Ser)
2	g.219060157G>T	CA350636618	IHH	c.311C>A (p.Thr104Asn)	gnomAD v4
2	g.219060158T>A	CA350636619	IHH	c.310A>T (p.Thr104Ser)
2	g.219060158T>C	CA350636620	IHH	c.310A>G (p.Thr104Ala)
2	g.219060158T>G	CA350636621	IHH	c.310A>C (p.Thr104Pro)
2	g.219060159C>A	CA350636624	IHH	c.309G>T (p.Met103Ile)
2	g.219060159C>G	CA350636622	IHH	c.309G>C (p.Met103Ile)
2	g.219060159C>T	CA350636623	IHH	c.309G>A (p.Met103Ile)
2	g.219060160A=	CA1329042569	IHH	c.308T= (p.Met103=)
2	g.219060160A>C	CA350636625	IHH	c.308T>G (p.Met103Arg)	ClinVar dbSNP gnomAD v4
2	g.219060160A>G	CA350636626	IHH	c.308T>C (p.Met103Thr)
2	g.219060160A>T	CA350636627	IHH	c.308T>A (p.Met103Lys)
2	g.219060161T>A	CA350636628	IHH	c.307A>T (p.Met103Leu)
2	g.219060161T>C	CA350636629	IHH	c.307A>G (p.Met103Val)
2	g.219060161T>G	CA350636630	IHH	c.307A>C (p.Met103Leu)	gnomAD v4
2	g.219060162G>A	CA431419748	IHH	c.306C>T (p.Leu102=)	dbSNP gnomAD v3 gnomAD v4
2	g.219060162G>C	CA431419750	IHH	c.306C>G (p.Leu102=)
2	g.219060162G=	CA1329042570	IHH	c.306C= (p.Leu102=)
2	g.219060162G>T	CA431419752	IHH	c.306C>A (p.Leu102=)
2	g.219060163_219060164del	CA2754315625	IHH	c.305_306del (p.Leu102HisfsTer?)
2	g.219060163A>C	CA350636631	IHH	c.305T>G (p.Leu102Arg)
2	g.219060163A>G	CA350636632	IHH	c.305T>C (p.Leu102Pro)	gnomAD v4
2	g.219060163A>T	CA350636633	IHH	c.305T>A (p.Leu102His)
2	g.219060164G>A	CA350636634	IHH	c.304C>T (p.Leu102Phe)
2	g.219060164G>C	CA350636635	IHH	c.304C>G (p.Leu102Val)
2	g.219060164G>T	CA350636636	IHH	c.304C>A (p.Leu102Ile)	gnomAD v4
2	g.219060165G>A	CA2116737	IHH	c.303C>T (p.Arg101=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060165G>C	CA431419758	IHH	c.303C>G (p.Arg101=)
2	g.219060165G=	CA1329042571	IHH	c.303C= (p.Arg101=)
2	g.219060165G>T	CA431419761	IHH	c.303C>A (p.Arg101=)
2	g.219060166C>A	CA350636639	IHH	c.302G>T (p.Arg101Leu)	gnomAD v4
2	g.219060166C>G	CA350636637	IHH	c.302G>C (p.Arg101Pro)
2	g.219060166C>T	CA350636638	IHH	c.302G>A (p.Arg101His)	gnomAD v4
2	g.219060167G>A	CA350636640	IHH	c.301C>T (p.Arg101Cys)
2	g.219060167G>C	CA350636642	IHH	c.301C>G (p.Arg101Gly)	ClinVar dbSNP
2	g.219060167G=	CA1329042572	IHH	c.301C= (p.Arg101=)
2	g.219060167G>T	CA350636643	IHH	c.301C>A (p.Arg101Ser)	ClinVar dbSNP gnomAD v4
2	g.219060168G>A	CA431419769	IHH	c.300C>T (p.Asp100=)	gnomAD v4
2	g.219060168G>C	CA350636645	IHH	c.300C>G (p.Asp100Glu)
2	g.219060168G=	CA1329042573	IHH	c.300C= (p.Asp100=)
2	g.219060168G>T	CA119975	IHH	c.300C>A (p.Asp100Glu)	ClinVar dbSNP
2	g.219060169T>A	CA350636647	IHH	c.299A>T (p.Asp100Val)
2	g.219060169T>C	CA350636648	IHH	c.299A>G (p.Asp100Gly)
2	g.219060169T>G	CA350636650	IHH	c.299A>C (p.Asp100Ala)
2	g.219060170C>A	CA350636651	IHH	c.298G>T (p.Asp100Tyr)	gnomAD v4
2	g.219060170C=	CA1329042574	IHH	c.298G= (p.Asp100=)
2	g.219060170C>G	CA350636653	IHH	c.298G>C (p.Asp100His)	dbSNP
2	g.219060170C>T	CA119976	IHH	c.298G>A (p.Asp100Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219060171G>A	CA2116738	IHH	c.297C>T (p.Ala99=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060171G>C	CA431419784	IHH	c.297C>G (p.Ala99=)
2	g.219060171G=	CA1329042575	IHH	c.297C= (p.Ala99=)
2	g.219060171G>T	CA431419787	IHH	c.297C>A (p.Ala99=)
2	g.219060172G>A	CA350636655	IHH	c.296C>T (p.Ala99Val)
2	g.219060172G>C	CA350636656	IHH	c.296C>G (p.Ala99Gly)
2	g.219060172G>T	CA350636658	IHH	c.296C>A (p.Ala99Asp)
2	g.219060173C>A	CA2116739	IHH	c.295G>T (p.Ala99Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060173C=	CA1329042576	IHH	c.295G= (p.Ala99=)
2	g.219060173C>G	CA350636661	IHH	c.295G>C (p.Ala99Pro)
2	g.219060173C>T	CA2116740	IHH	c.295G>A (p.Ala99Thr)	dbSNP ExAC gnomAD v2
2	g.219060174G>A	CA431419800	IHH	c.294C>T (p.Gly98=)
2	g.219060174G>C	CA431419801	IHH	c.294C>G (p.Gly98=)
2	g.219060174G=	CA1329042577	IHH	c.294C= (p.Gly98=)
2	g.219060174G>T	CA431419803	IHH	c.294C>A (p.Gly98=)	dbSNP gnomAD v2
2	g.219060175C>A	CA350636663	IHH	c.293G>T (p.Gly98Val)
2	g.219060175C>G	CA350636664	IHH	c.293G>C (p.Gly98Ala)
2	g.219060175C>T	CA350636666	IHH	c.293G>A (p.Gly98Asp)	gnomAD v4
2	g.219060176C>A	CA350636668	IHH	c.292G>T (p.Gly98Cys)
2	g.219060176C>G	CA350636669	IHH	c.292G>C (p.Gly98Arg)
2	g.219060176C>T	CA350636670	IHH	c.292G>A (p.Gly98Ser)
2	g.219060177T>A	CA431419808	IHH	c.291A>T (p.Thr97=)
2	g.219060177T>C	CA431419810	IHH	c.291A>G (p.Thr97=)	gnomAD v4
2	g.219060177T>G	CA431419812	IHH	c.291A>C (p.Thr97=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.219060177T=	CA1329042578	IHH	c.291A= (p.Thr97=)
2	g.219060178G>A	CA350636675	IHH	c.290C>T (p.Thr97Ile)
2	g.219060178G>C	CA350636673	IHH	c.290C>G (p.Thr97Arg)
2	g.219060178G>T	CA350636672	IHH	c.290C>A (p.Thr97Lys)
2	g.219060179T>A	CA350636676	IHH	c.289A>T (p.Thr97Ser)
2	g.219060179T>C	CA350636679	IHH	c.289A>G (p.Thr97Ala)
2	g.219060179T>G	CA350636677	IHH	c.289A>C (p.Thr97Pro)
2	g.219060180G>A	CA431419829	IHH	c.288C>T (p.Asn96=)
2	g.219060180G>C	CA350636681	IHH	c.288C>G (p.Asn96Lys)
2	g.219060180G=	CA1329042579	IHH	c.288C= (p.Asn96=)
2	g.219060180G>T	CA350636682	IHH	c.288C>A (p.Asn96Lys)	dbSNP gnomAD v4
2	g.219060181T>A	CA65951203	IHH	c.287A>T (p.Asn96Ile)	dbSNP gnomAD v4
2	g.219060181T>C	CA350636685	IHH	c.287A>G (p.Asn96Ser)	gnomAD v4
2	g.219060181T>G	CA350636687	IHH	c.287A>C (p.Asn96Thr)
2	g.219060181T=	CA1329042580	IHH	c.287A= (p.Asn96=)
2	g.219060182_219060184dup	CA2586971360	IHH	c.285_287dup (p.Glu95_Asn96insLys)
2	g.219060182T>A	CA350636688	IHH	c.286A>T (p.Asn96Tyr)
2	g.219060182T>C	CA350636689	IHH	c.286A>G (p.Asn96Asp)
2	g.219060182T>G	CA350636691	IHH	c.286A>C (p.Asn96His)
2	g.219060182_219060185delinsTCTC	CA1329042581	IHH	c.283_286delinsGAGA (p.Glu95=)
2	g.219060183C>A	CA350636693	IHH	c.285G>T (p.Glu95Asp)
2	g.219060183C=	CA1329042582	IHH	c.285G= (p.Glu95=)
2	g.219060183C>G	CA350636695	IHH	c.285G>C (p.Glu95Asp)
2	g.219060183C>T	CA431419840	IHH	c.285G>A (p.Glu95=)	dbSNP COSMIC
2	g.219060186_219060188del	CA1139657700	IHH	c.283_285del (p.Glu95del)	ClinVar dbSNP gnomAD v4
2	g.219060184T>A	CA350636696	IHH	c.284A>T (p.Glu95Val)
2	g.219060184T>C	CA119979	IHH	c.284A>G (p.Glu95Gly)	ClinVar dbSNP
2	g.219060184T>G	CA350636699	IHH	c.284A>C (p.Glu95Ala)
2	g.219060184T=	CA1329042583	IHH	c.284A= (p.Glu95=)
2	g.219060185C>A	CA350636701	IHH	c.283G>T (p.Glu95Ter)
2	g.219060185C=	CA1329042584	IHH	c.283G= (p.Glu95=)
2	g.219060185C>G	CA350636703	IHH	c.283G>C (p.Glu95Gln)
2	g.219060185C>T	CA119973	IHH	c.283G>A (p.Glu95Lys)	ClinVar dbSNP
2	g.219060186C>A	CA350636705	IHH	c.282G>T (p.Glu94Asp)
2	g.219060186C=	CA1329042585	IHH	c.282G= (p.Glu94=)
2	g.219060186C>G	CA350636707	IHH	c.282G>C (p.Glu94Asp)
2	g.219060186C>T	CA431419845	IHH	c.282G>A (p.Glu94=)	dbSNP gnomAD v2 gnomAD v4
2	g.219060187T>A	CA350636708	IHH	c.281A>T (p.Glu94Val)
2	g.219060187T>C	CA350636710	IHH	c.281A>G (p.Glu94Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219060187T>G	CA350636711	IHH	c.281A>C (p.Glu94Ala)
2	g.219060187T=	CA1329042586	IHH	c.281A= (p.Glu94=)
2	g.219060188C>A	CA350636713	IHH	c.280G>T (p.Glu94Ter)
2	g.219060188C>G	CA350636714	IHH	c.280G>C (p.Glu94Gln)
2	g.219060188C>T	CA350636716	IHH	c.280G>A (p.Glu94Lys)	gnomAD v4
2	g.219060189G>A	CA431419854	IHH	c.279C>T (p.Asp93=)	dbSNP gnomAD v2 gnomAD v4
2	g.219060189G>C	CA350636717	IHH	c.279C>G (p.Asp93Glu)
2	g.219060189G=	CA1329042587	IHH	c.279C= (p.Asp93=)
2	g.219060189G>T	CA350636719	IHH	c.279C>A (p.Asp93Glu)
2	g.219060190T>A	CA350636724	IHH	c.278A>T (p.Asp93Val)
2	g.219060190T>C	CA350636723	IHH	c.278A>G (p.Asp93Gly)
2	g.219060190T>G	CA350636721	IHH	c.278A>C (p.Asp93Ala)
2	g.219060191C>A	CA350636725	IHH	c.277G>T (p.Asp93Tyr)
2	g.219060191C>G	CA350636726	IHH	c.277G>C (p.Asp93His)
2	g.219060191C>T	CA350636728	IHH	c.277G>A (p.Asp93Asn)
2	g.219060192C>A	CA350636729	IHH	c.276G>T (p.Lys92Asn)
2	g.219060192C>G	CA350636731	IHH	c.276G>C (p.Lys92Asn)
2	g.219060192C>T	CA431419864	IHH	c.276G>A (p.Lys92=)	gnomAD v4
2	g.219060193T>A	CA350636733	IHH	c.275A>T (p.Lys92Met)
2	g.219060193T>C	CA350636735	IHH	c.275A>G (p.Lys92Arg)
2	g.219060193T>G	CA350636736	IHH	c.275A>C (p.Lys92Thr)
2	g.219060194T>A	CA350636738	IHH	c.274A>T (p.Lys92Ter)
2	g.219060194T>C	CA350636740	IHH	c.274A>G (p.Lys92Glu)
2	g.219060194T>G	CA350636741	IHH	c.274A>C (p.Lys92Gln)
2	g.219060195G>A	CA431419866	IHH	c.273C>T (p.Phe91=)	dbSNP gnomAD v2 gnomAD v4
2	g.219060195G>C	CA350636743	IHH	c.273C>G (p.Phe91Leu)
2	g.219060195G=	CA1329042588	IHH	c.273C= (p.Phe91=)
2	g.219060195G>T	CA350636744	IHH	c.273C>A (p.Phe91Leu)

Number of alleles fetched