Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.49913383A>C	CA412079406	ALG12	c.295+2T>G (n.295+2T>G)
22	g.49913383A>G	CA412079408	ALG12	c.295+2T>C (n.295+2T>C)
22	g.49913383A>T	CA412079409	ALG12	c.295+2T>A (n.295+2T>A)
22	g.49913384C>A	CA412079411	ALG12	c.295+1G>T (n.295+1G>T)
22	g.49913384C=	CA2410564715	ALG12	c.295+1G= (n.295+1G=)
22	g.49913384C>G	CA412079413	ALG12	c.295+1G>C (n.295+1G>C)
22	g.49913384C>T	CA10300678	ALG12	c.295+1G>A (n.295+1G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913385C>A	CA412079416	ALG12	c.295G>T (p.Val99Phe)
22	g.49913385C>G	CA412079418	ALG12	c.295G>C (p.Val99Leu)
22	g.49913385C>T	CA412079419	ALG12	c.295G>A (p.Val99Ile)
22	g.49913386T>A	CA514983941	ALG12	c.294A>T (p.Ile98=)
22	g.49913386T>C	CA325433323	ALG12	c.294A>G (p.Ile98Met)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913386T>G	CA514983942	ALG12	c.294A>C (p.Ile98=)
22	g.49913386T=	CA2410564716	ALG12	c.294A= (p.Ile98=)
22	g.49913387A>C	CA412079422	ALG12	c.293T>G (p.Ile98Arg)
22	g.49913387A>G	CA412079425	ALG12	c.293T>C (p.Ile98Thr)	gnomAD v4
22	g.49913387A>T	CA412079424	ALG12	c.293T>A (p.Ile98Lys)
22	g.49913388T>A	CA412079428	ALG12	c.292A>T (p.Ile98Leu)
22	g.49913388T>C	CA10300679	ALG12	c.292A>G (p.Ile98Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913388T>G	CA412079430	ALG12	c.292A>C (p.Ile98Leu)
22	g.49913388T=	CA2410564717	ALG12	c.292A= (p.Ile98=)
22	g.49913389T>A	CA514983945	ALG12	c.291A>T (p.Leu97=)
22	g.49913389T>C	CA514983943	ALG12	c.291A>G (p.Leu97=)
22	g.49913389T>G	CA514983944	ALG12	c.291A>C (p.Leu97=)
22	g.49913390A>C	CA412079432	ALG12	c.290T>G (p.Leu97Arg)
22	g.49913390A>G	CA412079434	ALG12	c.290T>C (p.Leu97Pro)
22	g.49913390A>T	CA412079435	ALG12	c.290T>A (p.Leu97Gln)
22	g.49913391G>A	CA514983946	ALG12	c.289C>T (p.Leu97=)
22	g.49913391G>C	CA412079437	ALG12	c.289C>G (p.Leu97Val)
22	g.49913391G>T	CA412079439	ALG12	c.289C>A (p.Leu97Ile)
22	g.49913392C>A	CA412079441	ALG12	c.288G>T (p.Gln96His)
22	g.49913392C>G	CA412079442	ALG12	c.288G>C (p.Gln96His)
22	g.49913392C>T	CA514983947	ALG12	c.288G>A (p.Gln96=)
22	g.49913393T>A	CA412079445	ALG12	c.287A>T (p.Gln96Leu)
22	g.49913393T>C	CA412079447	ALG12	c.287A>G (p.Gln96Arg)	dbSNP gnomAD v2 gnomAD v4
22	g.49913393T>G	CA412079448	ALG12	c.287A>C (p.Gln96Pro)
22	g.49913393T=	CA2410564718	ALG12	c.287A= (p.Gln96=)
22	g.49913394G>A	CA412079451	ALG12	c.286C>T (p.Gln96Ter)	gnomAD v4
22	g.49913394G>C	CA412079453	ALG12	c.286C>G (p.Gln96Glu)	dbSNP gnomAD v4
22	g.49913394G=	CA2410564719	ALG12	c.286C= (p.Gln96=)
22	g.49913394G>T	CA412079452	ALG12	c.286C>A (p.Gln96Lys)	COSMIC
22	g.49913395A=	CA2410564720	ALG12	c.285T= (p.Ser95=)
22	g.49913395A>C	CA514983950	ALG12	c.285T>G (p.Ser95=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913395A>G	CA514983948	ALG12	c.285T>C (p.Ser95=)
22	g.49913395A>T	CA514983949	ALG12	c.285T>A (p.Ser95=)
22	g.49913396G>A	CA412079455	ALG12	c.284C>T (p.Ser95Phe)
22	g.49913396G>C	CA412079456	ALG12	c.284C>G (p.Ser95Cys)	gnomAD v4
22	g.49913396G>T	CA412079457	ALG12	c.284C>A (p.Ser95Tyr)
22	g.49913397A>C	CA412079459	ALG12	c.283T>G (p.Ser95Ala)
22	g.49913397A>G	CA412079461	ALG12	c.283T>C (p.Ser95Pro)	gnomAD v4
22	g.49913397A>T	CA412079462	ALG12	c.283T>A (p.Ser95Thr)
22	g.49913398G>A	CA514983951	ALG12	c.282C>T (p.Tyr94=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.49913398G>C	CA412079464	ALG12	c.282C>G (p.Tyr94Ter)
22	g.49913398G=	CA2410564721	ALG12	c.282C= (p.Tyr94=)
22	g.49913398G>T	CA412079466	ALG12	c.282C>A (p.Tyr94Ter)
22	g.49913399T>A	CA412079468	ALG12	c.281A>T (p.Tyr94Phe)
22	g.49913399T>C	CA412079469	ALG12	c.281A>G (p.Tyr94Cys)
22	g.49913399T>G	CA412079471	ALG12	c.281A>C (p.Tyr94Ser)
22	g.49913400A=	CA2410564722	ALG12	c.280T= (p.Tyr94=)
22	g.49913400A>C	CA412079475	ALG12	c.280T>G (p.Tyr94Asp)
22	g.49913400A>G	CA325433332	ALG12	c.280T>C (p.Tyr94His)	dbSNP gnomAD v2 gnomAD v4
22	g.49913400A>T	CA412079473	ALG12	c.280T>A (p.Tyr94Asn)
22	g.49913401A>C	CA412079478	ALG12	c.279T>G (p.Phe93Leu)
22	g.49913401A>G	CA514983952	ALG12	c.279T>C (p.Phe93=)
22	g.49913401A>T	CA412079476	ALG12	c.279T>A (p.Phe93Leu)
22	g.49913402A>C	CA412079479	ALG12	c.278T>G (p.Phe93Cys)
22	g.49913402A>G	CA412079481	ALG12	c.278T>C (p.Phe93Ser)
22	g.49913402A>T	CA412079482	ALG12	c.278T>A (p.Phe93Tyr)
22	g.49913403A>C	CA412079485	ALG12	c.277T>G (p.Phe93Val)
22	g.49913403A>G	CA412079486	ALG12	c.277T>C (p.Phe93Leu)
22	g.49913403A>T	CA412079488	ALG12	c.277T>A (p.Phe93Ile)
22	g.49913404C>A	CA412079490	ALG12	c.276G>T (p.Lys92Asn)
22	g.49913404C=	CA2410564723	ALG12	c.276G= (p.Lys92=)
22	g.49913404C>G	CA412079491	ALG12	c.276G>C (p.Lys92Asn)
22	g.49913404C>T	CA515106479	ALG12	c.276G>A (p.Lys92=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913405T>A	CA412079493	ALG12	c.275A>T (p.Lys92Met)
22	g.49913405T>C	CA10300680	ALG12	c.275A>G (p.Lys92Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913405T>G	CA412079496	ALG12	c.275A>C (p.Lys92Thr)
22	g.49913405T=	CA2410564724	ALG12	c.275A= (p.Lys92=)
22	g.49913406T>A	CA412079502	ALG12	c.274A>T (p.Lys92Ter)
22	g.49913406T>C	CA412079500	ALG12	c.274A>G (p.Lys92Glu)
22	g.49913406T>G	CA412079499	ALG12	c.274A>C (p.Lys92Gln)	gnomAD v4
22	g.49913407G>A	CA515106494	ALG12	c.273C>T (p.Ser91=)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.49913407G>C	CA10300681	ALG12	c.273C>G (p.Ser91=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913407G=	CA2410564725	ALG12	c.273C= (p.Ser91=)
22	g.49913407G>T	CA515106499	ALG12	c.273C>A (p.Ser91=)
22	g.49913408G>A	CA412079504	ALG12	c.272C>T (p.Ser91Phe)	dbSNP gnomAD v2 gnomAD v4
22	g.49913408G>C	CA412079505	ALG12	c.272C>G (p.Ser91Cys)
22	g.49913408G=	CA2410564726	ALG12	c.272C= (p.Ser91=)
22	g.49913408G>T	CA412079507	ALG12	c.272C>A (p.Ser91Tyr)
22	g.49913409A>C	CA412079510	ALG12	c.271T>G (p.Ser91Ala)
22	g.49913409A>G	CA412079511	ALG12	c.271T>C (p.Ser91Pro)
22	g.49913409A>T	CA412079512	ALG12	c.271T>A (p.Ser91Thr)
22	g.49913410C>A	CA412079514	ALG12	c.270G>T (p.Met90Ile)
22	g.49913410C=	CA2410564727	ALG12	c.270G= (p.Met90=)
22	g.49913410C>G	CA412079515	ALG12	c.270G>C (p.Met90Ile)
22	g.49913410C>T	CA10300682	ALG12	c.270G>A (p.Met90Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913411A>C	CA412079517	ALG12	c.269T>G (p.Met90Arg)
22	g.49913411A>G	CA412079518	ALG12	c.269T>C (p.Met90Thr)
22	g.49913411A>T	CA412079520	ALG12	c.269T>A (p.Met90Lys)
22	g.49913412T>A	CA412079526	ALG12	c.268A>T (p.Met90Leu)
22	g.49913412T>C	CA412079524	ALG12	c.268A>G (p.Met90Val)	dbSNP gnomAD v3 gnomAD v4
22	g.49913412T>G	CA412079523	ALG12	c.268A>C (p.Met90Leu)
22	g.49913412T=	CA2410564728	ALG12	c.268A= (p.Met90=)
22	g.49913413T>A	CA412079530	ALG12	c.267A>T (p.Glu89Asp)
22	g.49913413T>C	CA515106528	ALG12	c.267A>G (p.Glu89=)	gnomAD v4 COSMIC
22	g.49913413T>G	CA412079528	ALG12	c.267A>C (p.Glu89Asp)
22	g.49913414T>A	CA412079532	ALG12	c.266A>T (p.Glu89Val)
22	g.49913414T>C	CA412079533	ALG12	c.266A>G (p.Glu89Gly)
22	g.49913414T>G	CA412079535	ALG12	c.266A>C (p.Glu89Ala)
22	g.49913415C>A	CA412079538	ALG12	c.265G>T (p.Glu89Ter)	COSMIC
22	g.49913415C=	CA2410564729	ALG12	c.265G= (p.Glu89=)
22	g.49913415C>G	CA412079539	ALG12	c.265G>C (p.Glu89Gln)
22	g.49913415C>T	CA412079540	ALG12	c.265G>A (p.Glu89Lys)	dbSNP
22	g.49913416T>A	CA412079542	ALG12	c.264A>T (p.Leu88Phe)
22	g.49913416T>C	CA515106532	ALG12	c.264A>G (p.Leu88=)
22	g.49913416T>G	CA412079544	ALG12	c.264A>C (p.Leu88Phe)
22	g.49913417A>C	CA412079546	ALG12	c.263T>G (p.Leu88Ter)
22	g.49913417A>G	CA412079547	ALG12	c.263T>C (p.Leu88Ser)
22	g.49913417A>T	CA412079549	ALG12	c.263T>A (p.Leu88Ter)
22	g.49913418A>C	CA412079551	ALG12	c.262T>G (p.Leu88Val)
22	g.49913418A>G	CA515106534	ALG12	c.262T>C (p.Leu88=)
22	g.49913418A>T	CA412079553	ALG12	c.262T>A (p.Leu88Ile)
22	g.49913419C>A	CA515106535	ALG12	c.261G>T (p.Leu87=)
22	g.49913419C=	CA2410564730	ALG12	c.261G= (p.Leu87=)
22	g.49913419C>G	CA515106537	ALG12	c.261G>C (p.Leu87=)
22	g.49913419C>T	CA515106538	ALG12	c.261G>A (p.Leu87=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913420A>C	CA412079554	ALG12	c.260T>G (p.Leu87Arg)
22	g.49913420A>G	CA412079566	ALG12	c.260T>C (p.Leu87Pro)
22	g.49913420A>T	CA412079557	ALG12	c.260T>A (p.Leu87Gln)
22	g.49913421G>A	CA515106542	ALG12	c.259C>T (p.Leu87=)
22	g.49913421G>C	CA412079568	ALG12	c.259C>G (p.Leu87Val)	gnomAD v4
22	g.49913421G>T	CA412079569	ALG12	c.259C>A (p.Leu87Met)
22	g.49913422C>A	CA515106546	ALG12	c.258G>T (p.Ser86=)
22	g.49913422C=	CA2410564731	ALG12	c.258G= (p.Ser86=)
22	g.49913422C>G	CA515106547	ALG12	c.258G>C (p.Ser86=)
22	g.49913422C>T	CA10300683	ALG12	c.258G>A (p.Ser86=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913423G>A	CA325433344	ALG12	c.257C>T (p.Ser86Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913423G>C	CA412079575	ALG12	c.257C>G (p.Ser86Trp)
22	g.49913423G=	CA2410564732	ALG12	c.257C= (p.Ser86=)
22	g.49913423G>T	CA412079578	ALG12	c.257C>A (p.Ser86Ter)
22	g.49913424A>C	CA412079581	ALG12	c.256T>G (p.Ser86Ala)
22	g.49913424A>G	CA412079584	ALG12	c.256T>C (p.Ser86Pro)
22	g.49913424A>T	CA412079585	ALG12	c.256T>A (p.Ser86Thr)
22	g.49913425A>C	CA515106554	ALG12	c.255T>G (p.Leu85=)	gnomAD v4
22	g.49913425A>G	CA515106556	ALG12	c.255T>C (p.Leu85=)
22	g.49913425A>T	CA515106557	ALG12	c.255T>A (p.Leu85=)
22	g.49913426A>C	CA412079593	ALG12	c.254T>G (p.Leu85Arg)
22	g.49913426A>G	CA412079595	ALG12	c.254T>C (p.Leu85Pro)	gnomAD v4
22	g.49913426A>T	CA412079598	ALG12	c.254T>A (p.Leu85His)
22	g.49913427G>A	CA412079604	ALG12	c.253C>T (p.Leu85Phe)
22	g.49913427G>C	CA412079607	ALG12	c.253C>G (p.Leu85Val)
22	g.49913427G>T	CA412079601	ALG12	c.253C>A (p.Leu85Ile)
22	g.49913428del	CA2657453750	ALG12	c.252del (p.Leu85PhefsTer4)	gnomAD v4
22	g.49913428C>A	CA515106560	ALG12	c.252G>T (p.Val84=)
22	g.49913428C>G	CA515106561	ALG12	c.252G>C (p.Val84=)
22	g.49913428C>T	CA515106562	ALG12	c.252G>A (p.Val84=)	gnomAD v4
22	g.49913429A>C	CA412079609	ALG12	c.251T>G (p.Val84Gly)
22	g.49913429A>G	CA412079611	ALG12	c.251T>C (p.Val84Ala)
22	g.49913429A>T	CA412079610	ALG12	c.251T>A (p.Val84Glu)
22	g.49913430C>A	CA412079614	ALG12	c.250G>T (p.Val84Leu)	gnomAD v4
22	g.49913430C=	CA2410564733	ALG12	c.250G= (p.Val84=)
22	g.49913430C>G	CA325433351	ALG12	c.250G>C (p.Val84Leu)	dbSNP gnomAD v4
22	g.49913430C>T	CA10300684	ALG12	c.250G>A (p.Val84Met)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22	g.49913431G>A	CA10300685	ALG12	c.249C>T (p.Tyr83=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913431G>C	CA412079620	ALG12	c.249C>G (p.Tyr83Ter)
22	g.49913431G=	CA2410564734	ALG12	c.249C= (p.Tyr83=)
22	g.49913431G>T	CA412079623	ALG12	c.249C>A (p.Tyr83Ter)
22	g.49913432T>A	CA412079625	ALG12	c.248A>T (p.Tyr83Phe)
22	g.49913432T>C	CA412079627	ALG12	c.248A>G (p.Tyr83Cys)
22	g.49913432T>G	CA412079633	ALG12	c.248A>C (p.Tyr83Ser)
22	g.49913433A>C	CA412079637	ALG12	c.247T>G (p.Tyr83Asp)	gnomAD v4
22	g.49913433A>G	CA412079640	ALG12	c.247T>C (p.Tyr83His)
22	g.49913433A>T	CA412079643	ALG12	c.247T>A (p.Tyr83Asn)
22	g.49913434A>C	CA515106580	ALG12	c.246T>G (p.Val82=)	gnomAD v4
22	g.49913434A>G	CA515106581	ALG12	c.246T>C (p.Val82=)
22	g.49913434A>T	CA515106582	ALG12	c.246T>A (p.Val82=)
22	g.49913435A>C	CA412079651	ALG12	c.245T>G (p.Val82Gly)
22	g.49913435A>G	CA412079645	ALG12	c.245T>C (p.Val82Ala)
22	g.49913435A>T	CA412079648	ALG12	c.245T>A (p.Val82Asp)
22	g.49913436C>A	CA10300686	ALG12	c.244G>T (p.Val82Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913436C=	CA2410564735	ALG12	c.244G= (p.Val82=)
22	g.49913436C>G	CA412079657	ALG12	c.244G>C (p.Val82Leu)
22	g.49913436C>T	CA412079660	ALG12	c.244G>A (p.Val82Ile)	dbSNP gnomAD v4
22	g.49913437C>A	CA515106594	ALG12	c.243G>T (p.Ala81=)	dbSNP
22	g.49913437C=	CA2410564736	ALG12	c.243G= (p.Ala81=)
22	g.49913437C>G	CA515106595	ALG12	c.243G>C (p.Ala81=)	gnomAD v4
22	g.49913437C>T	CA10300687	ALG12	c.243G>A (p.Ala81=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913438G>A	CA10300688	ALG12	c.242C>T (p.Ala81Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913438G>C	CA412079670	ALG12	c.242C>G (p.Ala81Gly)
22	g.49913438G=	CA2410564737	ALG12	c.242C= (p.Ala81=)
22	g.49913438G>T	CA412079671	ALG12	c.242C>A (p.Ala81Glu)
22	g.49913439C>A	CA412079674	ALG12	c.241G>T (p.Ala81Ser)
22	g.49913439C=	CA2410564738	ALG12	c.241G= (p.Ala81=)
22	g.49913439C>G	CA412079678	ALG12	c.241G>C (p.Ala81Pro)
22	g.49913439C>T	CA10300689	ALG12	c.241G>A (p.Ala81Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913440G>A	CA10300690	ALG12	c.240C>T (p.Pro80=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913440G>C	CA515106603	ALG12	c.240C>G (p.Pro80=)
22	g.49913440G=	CA2410564739	ALG12	c.240C= (p.Pro80=)
22	g.49913440G>T	CA515106605	ALG12	c.240C>A (p.Pro80=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913441G>A	CA412079703	ALG12	c.239C>T (p.Pro80Leu)	gnomAD v4
22	g.49913441G>C	CA412079692	ALG12	c.239C>G (p.Pro80Arg)
22	g.49913441G>T	CA412079688	ALG12	c.239C>A (p.Pro80His)
22	g.49913442G>A	CA412079706	ALG12	c.238C>T (p.Pro80Ser)
22	g.49913442G>C	CA412079708	ALG12	c.238C>G (p.Pro80Ala)
22	g.49913442G=	CA2410564740	ALG12	c.238C= (p.Pro80=)
22	g.49913442G>T	CA10300691	ALG12	c.238C>A (p.Pro80Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913443G>A	CA515106615	ALG12	c.237C>T (p.Ser79=)
22	g.49913443G>C	CA412079709	ALG12	c.237C>G (p.Ser79Arg)
22	g.49913443G=	CA2410564741	ALG12	c.237C= (p.Ser79=)
22	g.49913443G>T	CA10300692	ALG12	c.237C>A (p.Ser79Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913444C>A	CA412079720	ALG12	c.236G>T (p.Ser79Ile)	gnomAD v4
22	g.49913444C>G	CA412079717	ALG12	c.236G>C (p.Ser79Thr)
22	g.49913444C>T	CA412079713	ALG12	c.236G>A (p.Ser79Asn)	gnomAD v4
22	g.49913445T>A	CA412079727	ALG12	c.235A>T (p.Ser79Cys)
22	g.49913445T>C	CA412079731	ALG12	c.235A>G (p.Ser79Gly)
22	g.49913445T>G	CA412079733	ALG12	c.235A>C (p.Ser79Arg)
22	g.49913446G>A	CA515106626	ALG12	c.234C>T (p.Ser78=)	dbSNP
22	g.49913446G>C	CA515106625	ALG12	c.234C>G (p.Ser78=)
22	g.49913446G=	CA2410564742	ALG12	c.234C= (p.Ser78=)
22	g.49913446G>T	CA515106622	ALG12	c.234C>A (p.Ser78=)
22	g.49913447G>A	CA325433382	ALG12	c.233C>T (p.Ser78Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913447G>C	CA412079741	ALG12	c.233C>G (p.Ser78Cys)
22	g.49913447G=	CA2410564743	ALG12	c.233C= (p.Ser78=)
22	g.49913447G>T	CA412079744	ALG12	c.233C>A (p.Ser78Tyr)	gnomAD v4
22	g.49913448A=	CA2410564744	ALG12	c.232T= (p.Ser78=)
22	g.49913448A>C	CA412079753	ALG12	c.232T>G (p.Ser78Ala)
22	g.49913448A>G	CA412079761	ALG12	c.232T>C (p.Ser78Pro)	dbSNP gnomAD v3 gnomAD v4
22	g.49913448A>T	CA412079758	ALG12	c.232T>A (p.Ser78Thr)
22	g.49913449G>A	CA515106633	ALG12	c.231C>T (p.Phe77=)	ClinVar dbSNP gnomAD v4
22	g.49913449G>C	CA412079764	ALG12	c.231C>G (p.Phe77Leu)	dbSNP
22	g.49913449G=	CA2410564745	ALG12	c.231C= (p.Phe77=)
22	g.49913449G>T	CA412079766	ALG12	c.231C>A (p.Phe77Leu)
22	g.49913450A>C	CA412079774	ALG12	c.230T>G (p.Phe77Cys)
22	g.49913450A>G	CA412079778	ALG12	c.230T>C (p.Phe77Ser)
22	g.49913450A>T	CA412079781	ALG12	c.230T>A (p.Phe77Tyr)
22	g.49913451A>C	CA412079785	ALG12	c.229T>G (p.Phe77Val)
22	g.49913451A>G	CA412079792	ALG12	c.229T>C (p.Phe77Leu)
22	g.49913451A>T	CA412079795	ALG12	c.229T>A (p.Phe77Ile)
22	g.49913452C>A	CA515106645	ALG12	c.228G>T (p.Val76=)
22	g.49913452C>G	CA515106646	ALG12	c.228G>C (p.Val76=)
22	g.49913452C>T	CA515106647	ALG12	c.228G>A (p.Val76=)
22	g.49913453A=	CA2410564746	ALG12	c.227T= (p.Val76=)
22	g.49913453A>C	CA412079798	ALG12	c.227T>G (p.Val76Gly)	gnomAD v4
22	g.49913453A>G	CA10300693	ALG12	c.227T>C (p.Val76Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913453A>T	CA412079809	ALG12	c.227T>A (p.Val76Glu)
22	g.49913454C>A	CA412079818	ALG12	c.226G>T (p.Val76Leu)
22	g.49913454C=	CA2410564747	ALG12	c.226G= (p.Val76=)
22	g.49913454C>G	CA412079814	ALG12	c.226G>C (p.Val76Leu)
22	g.49913454C>T	CA412079813	ALG12	c.226G>A (p.Val76Met)	dbSNP gnomAD v2 gnomAD v4
22	g.49913455T>A	CA515106652	ALG12	c.225A>T (p.Ala75=)
22	g.49913455T>C	CA515106654	ALG12	c.225A>G (p.Ala75=)	dbSNP gnomAD v2 gnomAD v4
22	g.49913455T>G	CA515106656	ALG12	c.225A>C (p.Ala75=)	dbSNP gnomAD v2 gnomAD v4
22	g.49913455T=	CA2410564748	ALG12	c.225A= (p.Ala75=)
22	g.49913456G>A	CA412079821	ALG12	c.224C>T (p.Ala75Val)	gnomAD v4
22	g.49913456G>C	CA412079827	ALG12	c.224C>G (p.Ala75Gly)
22	g.49913456G>T	CA412079824	ALG12	c.224C>A (p.Ala75Glu)
22	g.49913456_49913471delinsGCGATCACCACTGGCC	CA2410564749	ALG12	c.209_224delinsGGCCAGTGGTGATCGC (p.Gly70=)
22	g.49913457C>A	CA412079832	ALG12	c.223G>T (p.Ala75Ser)	dbSNP
22	g.49913457C=	CA2410564750	ALG12	c.223G= (p.Ala75=)
22	g.49913457C>G	CA412079834	ALG12	c.223G>C (p.Ala75Pro)
22	g.49913457C>T	CA10300694	ALG12	c.223G>A (p.Ala75Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22	g.49913460_49913474del	CA640352370	ALG12	c.209_223del (p.Gly70_Ile74del)	dbSNP gnomAD v2
22	g.49913458G>A	CA10300695	ALG12	c.222C>T (p.Ile74=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913458G>C	CA325433398	ALG12	c.222C>G (p.Ile74Met)	dbSNP
22	g.49913458G=	CA2410564751	ALG12	c.222C= (p.Ile74=)
22	g.49913458G>T	CA515106666	ALG12	c.222C>A (p.Ile74=)	ClinVar gnomAD v4
22	g.49913459A>C	CA412079837	ALG12	c.221T>G (p.Ile74Ser)	gnomAD v4
22	g.49913459A>G	CA412079842	ALG12	c.221T>C (p.Ile74Thr)
22	g.49913459A>T	CA412079844	ALG12	c.221T>A (p.Ile74Asn)
22	g.49913460T>A	CA412079848	ALG12	c.220A>T (p.Ile74Phe)
22	g.49913460T>C	CA10300696	ALG12	c.220A>G (p.Ile74Val)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913460T>G	CA412079851	ALG12	c.220A>C (p.Ile74Leu)
22	g.49913460T=	CA2410564752	ALG12	c.220A= (p.Ile74=)
22	g.49913461C>A	CA515106677	ALG12	c.219G>T (p.Val73=)
22	g.49913461C>G	CA515106678	ALG12	c.219G>C (p.Val73=)
22	g.49913461C>T	CA515106680	ALG12	c.219G>A (p.Val73=)
22	g.49913462A>C	CA412079854	ALG12	c.218T>G (p.Val73Gly)
22	g.49913462A>G	CA412079862	ALG12	c.218T>C (p.Val73Ala)
22	g.49913462A>T	CA412079857	ALG12	c.218T>A (p.Val73Glu)
22	g.49913463C>A	CA412079867	ALG12	c.217G>T (p.Val73Leu)
22	g.49913463C=	CA2410564753	ALG12	c.217G= (p.Val73=)
22	g.49913463C>G	CA412079870	ALG12	c.217G>C (p.Val73Leu)
22	g.49913463C>T	CA412079876	ALG12	c.217G>A (p.Val73Met)	dbSNP gnomAD v2 gnomAD v4
22	g.49913464C>A	CA10300697	ALG12	c.216G>T (p.Val72=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913464C=	CA2410564754	ALG12	c.216G= (p.Val72=)
22	g.49913464C>G	CA515106693	ALG12	c.216G>C (p.Val72=)
22	g.49913464C>T	CA515106695	ALG12	c.216G>A (p.Val72=)
22	g.49913465A=	CA2410564755	ALG12	c.215T= (p.Val72=)
22	g.49913465A>C	CA412079882	ALG12	c.215T>G (p.Val72Gly)	dbSNP
22	g.49913465A>G	CA412079892	ALG12	c.215T>C (p.Val72Ala)
22	g.49913465A>T	CA412079887	ALG12	c.215T>A (p.Val72Glu)
22	g.49913466C>A	CA412079901	ALG12	c.214G>T (p.Val72Leu)	dbSNP gnomAD v4
22	g.49913466C=	CA2410564756	ALG12	c.214G= (p.Val72=)
22	g.49913466C>G	CA412079904	ALG12	c.214G>C (p.Val72Leu)
22	g.49913466C>T	CA412079905	ALG12	c.214G>A (p.Val72Met)	dbSNP gnomAD v2 gnomAD v4
22	g.49913467T>A	CA515106701	ALG12	c.213A>T (p.Pro71=)
22	g.49913467T>C	CA515106702	ALG12	c.213A>G (p.Pro71=)	gnomAD v4
22	g.49913467T>G	CA515106704	ALG12	c.213A>C (p.Pro71=)
22	g.49913468G>A	CA412079906	ALG12	c.212C>T (p.Pro71Leu)
22	g.49913468G>C	CA412079907	ALG12	c.212C>G (p.Pro71Arg)
22	g.49913468G>T	CA412079909	ALG12	c.212C>A (p.Pro71Gln)
22	g.49913469G>A	CA412079912	ALG12	c.211C>T (p.Pro71Ser)
22	g.49913469G>C	CA412079916	ALG12	c.211C>G (p.Pro71Ala)
22	g.49913469G>T	CA412079923	ALG12	c.211C>A (p.Pro71Thr)
22	g.49913470C>A	CA515106712	ALG12	c.210G>T (p.Gly70=)
22	g.49913470C>G	CA515106711	ALG12	c.210G>C (p.Gly70=)
22	g.49913470C>T	CA515106710	ALG12	c.210G>A (p.Gly70=)	gnomAD v4
22	g.49913471C>A	CA412079926	ALG12	c.209G>T (p.Gly70Val)
22	g.49913471C=	CA2410564757	ALG12	c.209G= (p.Gly70=)
22	g.49913471C>G	CA412079929	ALG12	c.209G>C (p.Gly70Ala)	dbSNP
22	g.49913471C>T	CA412079935	ALG12	c.209G>A (p.Gly70Glu)
22	g.49913472C>A	CA412079939	ALG12	c.208G>T (p.Gly70Trp)
22	g.49913472C=	CA2410564758	ALG12	c.208G= (p.Gly70=)
22	g.49913472C>G	CA412079941	ALG12	c.208G>C (p.Gly70Arg)
22	g.49913472C>T	CA412079940	ALG12	c.208G>A (p.Gly70Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.49913473G>A	CA10300698	ALG12	c.207C>T (p.Leu69=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913473G>C	CA515106725	ALG12	c.207C>G (p.Leu69=)
22	g.49913473G=	CA2410564759	ALG12	c.207C= (p.Leu69=)
22	g.49913473G>T	CA515106727	ALG12	c.207C>A (p.Leu69=)
22	g.49913474A=	CA2410564760	ALG12	c.206T= (p.Leu69=)
22	g.49913474A>C	CA412079946	ALG12	c.206T>G (p.Leu69Arg)
22	g.49913474A>G	CA412079949	ALG12	c.206T>C (p.Leu69Pro)
22	g.49913474A>T	CA412079953	ALG12	c.206T>A (p.Leu69His)
22	g.49913475G>A	CA412079957	ALG12	c.205C>T (p.Leu69Phe)
22	g.49913475G>C	CA412079960	ALG12	c.205C>G (p.Leu69Val)
22	g.49913475G>T	CA412079967	ALG12	c.205C>A (p.Leu69Ile)
22	g.49913475_49913482dup	CA754007655	ALG12	c.198_205dup (p.Leu69ArgfsTer8)	dbSNP gnomAD v3 gnomAD v4
22	g.49913476G>A	CA515106731	ALG12	c.204C>T (p.Phe68=)	gnomAD v4
22	g.49913476G>C	CA412079976	ALG12	c.204C>G (p.Phe68Leu)	ClinVar dbSNP gnomAD v4
22	g.49913476G=	CA2410564761	ALG12	c.204C= (p.Phe68=)
22	g.49913476G>T	CA412079983	ALG12	c.204C>A (p.Phe68Leu)
22	g.49913477A>C	CA412079991	ALG12	c.203T>G (p.Phe68Cys)
22	g.49913477A>G	CA412079993	ALG12	c.203T>C (p.Phe68Ser)
22	g.49913477A>T	CA412079998	ALG12	c.203T>A (p.Phe68Tyr)
22	g.49913478A>C	CA412080013	ALG12	c.202T>G (p.Phe68Val)
22	g.49913478A>G	CA412080000	ALG12	c.202T>C (p.Phe68Leu)
22	g.49913478A>T	CA412080006	ALG12	c.202T>A (p.Phe68Ile)
22	g.49913479C>A	CA515106733	ALG12	c.201G>T (p.Thr67=)
22	g.49913479C=	CA2410564762	ALG12	c.201G= (p.Thr67=)
22	g.49913479C>G	CA515106735	ALG12	c.201G>C (p.Thr67=)
22	g.49913479C>T	CA10300699	ALG12	c.201G>A (p.Thr67=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913480G>A	CA252770	ALG12	c.200C>T (p.Thr67Met)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
22	g.49913480G>C	CA412080027	ALG12	c.200C>G (p.Thr67Arg)
22	g.49913480G=	CA2410564763	ALG12	c.200C= (p.Thr67=)
22	g.49913480G>T	CA412080028	ALG12	c.200C>A (p.Thr67Lys)
22	g.49913481T>A	CA412080029	ALG12	c.199A>T (p.Thr67Ser)
22	g.49913481T>C	CA412080030	ALG12	c.199A>G (p.Thr67Ala)
22	g.49913481T>G	CA412080031	ALG12	c.199A>C (p.Thr67Pro)
22	g.49913482C>A	CA412080034	ALG12	c.198G>T (p.Arg66Ser)
22	g.49913482C=	CA2410564764	ALG12	c.198G= (p.Arg66=)
22	g.49913482C>G	CA325433411	ALG12	c.198G>C (p.Arg66Ser)	dbSNP gnomAD v3 gnomAD v4
22	g.49913482C>T	CA515106741	ALG12	c.198G>A (p.Arg66=)
22	g.49913483C>A	CA412080039	ALG12	c.197G>T (p.Arg66Met)
22	g.49913483C>G	CA412080047	ALG12	c.197G>C (p.Arg66Thr)
22	g.49913483C>T	CA412080050	ALG12	c.197G>A (p.Arg66Lys)

Number of alleles fetched