Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
2	g.219060450G>A	CA65951438	IHH	c.18C>T (p.Leu6=)	dbSNP gnomAD v4
2	g.219060450G>C	CA431419806	IHH	c.18C>G (p.Leu6=)	gnomAD v4
2	g.219060450G=	CA1329042708	IHH	c.18C= (p.Leu6=)
2	g.219060450G>T	CA2116784	IHH	c.18C>A (p.Leu6=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060451A>C	CA350637788	IHH	c.17T>G (p.Leu6Arg)	gnomAD v4
2	g.219060451A>G	CA350637789	IHH	c.17T>C (p.Leu6Pro)	gnomAD v4
2	g.219060451A>T	CA350637786	IHH	c.17T>A (p.Leu6His)
2	g.219060452G>A	CA350637791	IHH	c.16C>T (p.Leu6Phe)	gnomAD v4
2	g.219060452G>C	CA350637792	IHH	c.16C>G (p.Leu6Val)
2	g.219060452G>T	CA350637794	IHH	c.16C>A (p.Leu6Ile)	gnomAD v4
2	g.219060453C>A	CA431419818	IHH	c.15G>T (p.Arg5=)	gnomAD v4
2	g.219060453C=	CA1329042709	IHH	c.15G= (p.Arg5=)
2	g.219060453C>G	CA431419819	IHH	c.15G>C (p.Arg5=)	dbSNP gnomAD v4
2	g.219060453C>T	CA431419820	IHH	c.15G>A (p.Arg5=)	gnomAD v4
2	g.219060454C>A	CA350637796	IHH	c.14G>T (p.Arg5Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.219060454C=	CA1329042710	IHH	c.14G= (p.Arg5=)
2	g.219060454C>G	CA350637797	IHH	c.14G>C (p.Arg5Pro)	gnomAD v4
2	g.219060454C>T	CA350637799	IHH	c.14G>A (p.Arg5Gln)
2	g.219060455G>A	CA350637800	IHH	c.13C>T (p.Arg5Trp)	gnomAD v4
2	g.219060455G>C	CA350637801	IHH	c.13C>G (p.Arg5Gly)
2	g.219060455G>T	CA431419825	IHH	c.13C>A (p.Arg5=)	gnomAD v4
2	g.219060456G>A	CA431419828	IHH	c.12C>T (p.Ala4=)
2	g.219060456G>C	CA431419830	IHH	c.12C>G (p.Ala4=)
2	g.219060456G>T	CA431419827	IHH	c.12C>A (p.Ala4=)	gnomAD v4
2	g.219060457G>A	CA350637802	IHH	c.11C>T (p.Ala4Val)
2	g.219060457G>C	CA350637803	IHH	c.11C>G (p.Ala4Gly)
2	g.219060457G=	CA1329042711	IHH	c.11C= (p.Ala4=)
2	g.219060457G>T	CA350637805	IHH	c.11C>A (p.Ala4Asp)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219060458_219060468del	CA2663195214	IHH	c.1_11del (p.Met1ProfsTer?)	gnomAD v4
2	g.219060458C>A	CA350637807	IHH	c.10G>T (p.Ala4Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.219060458C=	CA1329042712	IHH	c.10G= (p.Ala4=)
2	g.219060458C>G	CA350637809	IHH	c.10G>C (p.Ala4Pro)
2	g.219060458C>T	CA350637810	IHH	c.10G>A (p.Ala4Thr)	gnomAD v4
2	g.219060459G>A	CA2116785	IHH	c.9C>T (p.Pro3=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060459G>C	CA431419835	IHH	c.9C>G (p.Pro3=)
2	g.219060459G=	CA1329042713	IHH	c.9C= (p.Pro3=)
2	g.219060459G>T	CA431419836	IHH	c.9C>A (p.Pro3=)	gnomAD v4
2	g.219060460G>A	CA350637814	IHH	c.8C>T (p.Pro3Leu)	dbSNP gnomAD v3 gnomAD v4
2	g.219060460G>C	CA350637818	IHH	c.8C>G (p.Pro3Arg)
2	g.219060460G=	CA1329042714	IHH	c.8C= (p.Pro3=)
2	g.219060460G>T	CA350637816	IHH	c.8C>A (p.Pro3His)	gnomAD v4
2	g.219060461_219060463dup	CA2116786	IHH	c.6_8dup (p.Pro3_Ala4insPro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.219060461G>A	CA350637820	IHH	c.7C>T (p.Pro3Ser)	gnomAD v4
2	g.219060461G>C	CA350637822	IHH	c.7C>G (p.Pro3Ala)
2	g.219060461G>T	CA350637823	IHH	c.7C>A (p.Pro3Thr)	gnomAD v4
2	g.219060462A>C	CA431419853	IHH	c.6T>G (p.Ser2=)
2	g.219060462A>G	CA431419852	IHH	c.6T>C (p.Ser2=)	gnomAD v4
2	g.219060462A>T	CA431419851	IHH	c.6T>A (p.Ser2=)
2	g.219060463G>A	CA350637825	IHH	c.5C>T (p.Ser2Phe)	gnomAD v4
2	g.219060463G>C	CA350637827	IHH	c.5C>G (p.Ser2Cys)	gnomAD v4
2	g.219060463G>T	CA350637829	IHH	c.5C>A (p.Ser2Tyr)	gnomAD v4
2	g.219060463_219060465del	CA2663195237	IHH	c.3_5del (p.Met1_Ser2delinsIle)	gnomAD v4
2	g.219060464A>C	CA350637831	IHH	c.4T>G (p.Ser2Ala)
2	g.219060464A>G	CA350637833	IHH	c.4T>C (p.Ser2Pro)	gnomAD v4
2	g.219060464A>T	CA350637834	IHH	c.4T>A (p.Ser2Thr)
2	g.219060465C>A	CA350637836	IHH	c.3G>T (p.Met1Ile)
2	g.219060465C>G	CA350637838	IHH	c.3G>C (p.Met1Ile)
2	g.219060465C>T	CA350637839	IHH	c.3G>A (p.Met1Ile)
2	g.219060465_219060467delinsCAT	CA1329042715	IHH	c.1_3delinsATG (p.Met1=)
2	g.219060466A=	CA1329042716	IHH	c.2T= (p.Met1=)
2	g.219060466A>C	CA350637845	IHH	c.2T>G (p.Met1Arg)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219060466A>G	CA350637841	IHH	c.2T>C (p.Met1Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.219060466A>T	CA350637843	IHH	c.2T>A (p.Met1Lys)	ClinVar dbSNP
2	g.219060466_219060467del	CA764946515	IHH	c.1_2del (p.Met1ValfsTer?)	dbSNP
2	g.219060467T>A	CA350637847	IHH	c.1A>T (p.Met1Leu)
2	g.219060467T>C	CA350637848	IHH	c.1A>G (p.Met1Val)	ClinVar gnomAD v4
2	g.219060467T>G	CA350637850	IHH	c.1A>C (p.Met1Leu)
2	g.219060468G>T	CA2663195241	IHH	c.-1C>A (n.-1C>A)	gnomAD v4
2	g.219060469G>A	CA539841241	IHH	c.-2C>T (n.-2C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219060469G>C	CA2663195242	IHH	c.-2C>G (n.-2C>G)	gnomAD v4
2	g.219060469G=	CA1329042717	IHH	c.-2C= (n.-2C=)
2	g.219060469G>T	CA2663195243	IHH	c.-2C>A (n.-2C>A)	gnomAD v4
2	g.219060470C>A	CA2663195245	IHH	c.-3G>T (n.-3G>T)	gnomAD v4
2	g.219060470C>T	CA2663195246	IHH	c.-3G>A (n.-3G>A)	gnomAD v4
2	g.219060476_219060484dup	CA2663195244	IHH	c.-11_-3dup (n.-11_-3dup)	gnomAD v4
2	g.219060471C>A	CA2663195248	IHH	c.-4G>T (n.-4G>T)	gnomAD v4
2	g.219060471_219060472del	CA2663195247	IHH	c.-5_-4del (n.-5_-4del)	gnomAD v4
2	g.219060471_219060472delinsCG	CA1329042718	IHH	c.-5_-4delinsCG (n.-5_-4delinsCG)
2	g.219060472G>A	CA1329042719	IHH	c.-5C>T (n.-5C>T)	dbSNP gnomAD v4
2	g.219060472G>C	CA2577248566	IHH	c.-5C>G (n.-5C>G)	gnomAD v4
2	g.219060472G=	CA1329042720	IHH	c.-5C= (n.-5C=)
2	g.219060472G>T	CA2663195249	IHH	c.-5C>A (n.-5C>A)	gnomAD v4
2	g.219060475dup	CA539841242	IHH	c.-5dup (n.-5dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060475del	CA2116787	IHH	c.-5del (n.-5del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060473G>A	CA2663195254	IHH	c.-6C>T (n.-6C>T)	gnomAD v4
2	g.219060473G>C	CA2116788	IHH	c.-6C>G (n.-6C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.219060473G=	CA1329042721	IHH	c.-6C= (n.-6C=)
2	g.219060473G>T	CA2663195255	IHH	c.-6C>A (n.-6C>A)	gnomAD v4
2	g.219060474G>A	CA2663195256	IHH	c.-7C>T (n.-7C>T)	gnomAD v4
2	g.219060474G>T	CA2663195257	IHH	c.-7C>A (n.-7C>A)	gnomAD v4
2	g.219060475G>A	CA764946533	IHH	c.-8C>T (n.-8C>T)	dbSNP gnomAD v4
2	g.219060475G=	CA1329042722	IHH	c.-8C= (n.-8C=)
2	g.219060475G>T	CA2663195259	IHH	c.-8C>A (n.-8C>A)	gnomAD v4
2	g.219060476A>G	CA2663195260	IHH	c.-9T>C (n.-9T>C)	gnomAD v4
2	g.219060477G>A	CA2663195261	IHH	c.-10C>T (n.-10C>T)	gnomAD v4
2	g.219060477G=	CA1329042723	IHH	c.-10C= (n.-10C=)
2	g.219060477G>T	CA2663195262	IHH	c.-10C>A (n.-10C>A)	gnomAD v4
2	g.219060478C>A	CA539841244	IHH	c.-11G>T (n.-11G>T)	dbSNP gnomAD v2 gnomAD v4
2	g.219060478C=	CA1329042724	IHH	c.-11G= (n.-11G=)
2	g.219060478C>T	CA2663195264	IHH	c.-11G>A (n.-11G>A)	gnomAD v4
2	g.219060480dup	CA764946545	IHH	c.-11dup (n.-11dup)	dbSNP
2	g.219060480del	CA2663195265	IHH	c.-11del (n.-11del)	gnomAD v4
2	g.219060479C>A	CA2663195267	IHH	c.-12G>T (n.-12G>T)	gnomAD v4

Number of alleles fetched