Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.49913608T>A	CA412080579	ALG12	c.158A>T (p.Glu53Val)
22	g.49913608T>C	CA412080580	ALG12	c.158A>G (p.Glu53Gly)
22	g.49913608T>G	CA412080584	ALG12	c.158A>C (p.Glu53Ala)
22	g.49913609C>A	CA412080587	ALG12	c.157G>T (p.Glu53Ter)
22	g.49913609C=	CA2410564840	ALG12	c.157G= (p.Glu53=)
22	g.49913609C>G	CA325433523	ALG12	c.157G>C (p.Glu53Gln)	dbSNP gnomAD v4
22	g.49913609C>T	CA412080588	ALG12	c.157G>A (p.Glu53Lys)	gnomAD v4
22	g.49913610C>A	CA515106830	ALG12	c.156G>T (p.Leu52=)
22	g.49913610C>G	CA515106829	ALG12	c.156G>C (p.Leu52=)
22	g.49913610C>T	CA515106828	ALG12	c.156G>A (p.Leu52=)	gnomAD v4
22	g.49913611A>C	CA412080598	ALG12	c.155T>G (p.Leu52Arg)
22	g.49913611A>G	CA412080605	ALG12	c.155T>C (p.Leu52Pro)
22	g.49913611A>T	CA412080600	ALG12	c.155T>A (p.Leu52Gln)
22	g.49913612G>A	CA515106835	ALG12	c.154C>T (p.Leu52=)
22	g.49913612G>C	CA412080612	ALG12	c.154C>G (p.Leu52Val)	gnomAD v4
22	g.49913612G>T	CA412080616	ALG12	c.154C>A (p.Leu52Met)
22	g.49913613G>A	CA515106836	ALG12	c.153C>T (p.Asp51=)
22	g.49913613G>C	CA412080622	ALG12	c.153C>G (p.Asp51Glu)
22	g.49913613G>T	CA412080632	ALG12	c.153C>A (p.Asp51Glu)
22	g.49913613_49913614insGCCC	CA2657454418	ALG12	c.152_153insGGGC (p.Asp51GlufsTer10)	gnomAD v4
22	g.49913614T>A	CA412080638	ALG12	c.152A>T (p.Asp51Val)
22	g.49913614T>C	CA412080653	ALG12	c.152A>G (p.Asp51Gly)
22	g.49913614T>G	CA412080655	ALG12	c.152A>C (p.Asp51Ala)
22	g.49913615C>A	CA412080657	ALG12	c.151G>T (p.Asp51Tyr)
22	g.49913615C=	CA2410564841	ALG12	c.151G= (p.Asp51=)
22	g.49913615C>G	CA412080659	ALG12	c.151G>C (p.Asp51His)	dbSNP gnomAD v3 gnomAD v4
22	g.49913615C>T	CA412080663	ALG12	c.151G>A (p.Asp51Asn)
22	g.49913616T>A	CA412080666	ALG12	c.150A>T (p.Gln50His)
22	g.49913616T>C	CA515106841	ALG12	c.150A>G (p.Gln50=)	dbSNP gnomAD v4
22	g.49913616T>G	CA412080667	ALG12	c.150A>C (p.Gln50His)
22	g.49913616T=	CA2410564842	ALG12	c.150A= (p.Gln50=)
22	g.49913617del	CA2657454443	ALG12	c.150del (p.Asp51ThrfsTer23)	gnomAD v4
22	g.49913617T>A	CA412080670	ALG12	c.149A>T (p.Gln50Leu)
22	g.49913617T>C	CA412080674	ALG12	c.149A>G (p.Gln50Arg)
22	g.49913617T>G	CA412080672	ALG12	c.149A>C (p.Gln50Pro)
22	g.49913618G>A	CA412080677	ALG12	c.148C>T (p.Gln50Ter)	gnomAD v4
22	g.49913618G>C	CA412080681	ALG12	c.148C>G (p.Gln50Glu)	gnomAD v4
22	g.49913618G=	CA2410564843	ALG12	c.148C= (p.Gln50=)
22	g.49913618G>T	CA10300727	ALG12	c.148C>A (p.Gln50Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913619C>A	CA412080689	ALG12	c.147G>T (p.Trp49Cys)
22	g.49913619C=	CA2410564844	ALG12	c.147G= (p.Trp49=)
22	g.49913619C>G	CA412080700	ALG12	c.147G>C (p.Trp49Cys)	dbSNP gnomAD v2 gnomAD v4
22	g.49913619C>T	CA412080710	ALG12	c.147G>A (p.Trp49Ter)	gnomAD v4
22	g.49913620C>A	CA412080724	ALG12	c.146G>T (p.Trp49Leu)
22	g.49913620C=	CA2410564845	ALG12	c.146G= (p.Trp49=)
22	g.49913620C>G	CA412080725	ALG12	c.146G>C (p.Trp49Ser)	dbSNP
22	g.49913620C>T	CA412080726	ALG12	c.146G>A (p.Trp49Ter)
22	g.49913621A>C	CA412080734	ALG12	c.145T>G (p.Trp49Gly)
22	g.49913621A>G	CA412080738	ALG12	c.145T>C (p.Trp49Arg)
22	g.49913621A>T	CA412080731	ALG12	c.145T>A (p.Trp49Arg)
22	g.49913622G>A	CA515106853	ALG12	c.144C>T (p.His48=)
22	g.49913622G>C	CA412080742	ALG12	c.144C>G (p.His48Gln)
22	g.49913622G>T	CA412080744	ALG12	c.144C>A (p.His48Gln)
22	g.49913623T>A	CA412080749	ALG12	c.143A>T (p.His48Leu)
22	g.49913623T>C	CA412080751	ALG12	c.143A>G (p.His48Arg)
22	g.49913623T>G	CA412080756	ALG12	c.143A>C (p.His48Pro)
22	g.49913624G>A	CA412080764	ALG12	c.142C>T (p.His48Tyr)	dbSNP
22	g.49913624G>C	CA412080762	ALG12	c.142C>G (p.His48Asp)
22	g.49913624G=	CA2410564846	ALG12	c.142C= (p.His48=)
22	g.49913624G>T	CA412080758	ALG12	c.142C>A (p.His48Asn)	gnomAD v4
22	g.49913625G>A	CA10300728	ALG12	c.141C>T (p.Tyr47=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913625G>C	CA412080768	ALG12	c.141C>G (p.Tyr47Ter)
22	g.49913625G=	CA2410564847	ALG12	c.141C= (p.Tyr47=)
22	g.49913625G>T	CA412080772	ALG12	c.141C>A (p.Tyr47Ter)
22	g.49913626T>A	CA412080776	ALG12	c.140A>T (p.Tyr47Phe)
22	g.49913626T>C	CA10300729	ALG12	c.140A>G (p.Tyr47Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913626T>G	CA412080791	ALG12	c.140A>C (p.Tyr47Ser)
22	g.49913626T=	CA2410564848	ALG12	c.140A= (p.Tyr47=)
22	g.49913627A=	CA2410564849	ALG12	c.139T= (p.Tyr47=)
22	g.49913627A>C	CA412080808	ALG12	c.139T>G (p.Tyr47Asp)
22	g.49913627A>G	CA412080819	ALG12	c.139T>C (p.Tyr47His)	dbSNP gnomAD v3 gnomAD v4
22	g.49913627A>T	CA412080816	ALG12	c.139T>A (p.Tyr47Asn)
22	g.49913628G>A	CA515106860	ALG12	c.138C>T (p.Leu46=)	dbSNP gnomAD v4
22	g.49913628G>C	CA515106861	ALG12	c.138C>G (p.Leu46=)	gnomAD v4
22	g.49913628G=	CA2410564850	ALG12	c.138C= (p.Leu46=)
22	g.49913628G>T	CA515106862	ALG12	c.138C>A (p.Leu46=)
22	g.49913629A>C	CA412080835	ALG12	c.137T>G (p.Leu46Arg)
22	g.49913629A>G	CA412080837	ALG12	c.137T>C (p.Leu46Pro)	gnomAD v4
22	g.49913629A>T	CA412080838	ALG12	c.137T>A (p.Leu46His)
22	g.49913630G>A	CA412080842	ALG12	c.136C>T (p.Leu46Phe)
22	g.49913630G>C	CA412080846	ALG12	c.136C>G (p.Leu46Val)
22	g.49913630G>T	CA412080850	ALG12	c.136C>A (p.Leu46Ile)
22	g.49913631C>A	CA515106869	ALG12	c.135G>T (p.Leu45=)
22	g.49913631C=	CA2410564851	ALG12	c.135G= (p.Leu45=)
22	g.49913631C>G	CA515106868	ALG12	c.135G>C (p.Leu45=)
22	g.49913631C>T	CA515106866	ALG12	c.135G>A (p.Leu45=)	dbSNP gnomAD v2 gnomAD v4
22	g.49913632A>C	CA412080853	ALG12	c.134T>G (p.Leu45Arg)
22	g.49913632A>G	CA412080859	ALG12	c.134T>C (p.Leu45Pro)
22	g.49913632A>T	CA412080863	ALG12	c.134T>A (p.Leu45Gln)
22	g.49913632dup	CA2657454502	ALG12	c.134dup (p.Leu46AlafsTer14)	gnomAD v4
22	g.49913633G>A	CA515106871	ALG12	c.133C>T (p.Leu45=)	ClinVar gnomAD v4
22	g.49913633G>C	CA412080886	ALG12	c.133C>G (p.Leu45Val)	gnomAD v4
22	g.49913633G=	CA2410564852	ALG12	c.133C= (p.Leu45=)
22	g.49913633G>T	CA10300730	ALG12	c.133C>A (p.Leu45Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913634G>A	CA10300731	ALG12	c.132C>T (p.Asp44=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913634G>C	CA412080910	ALG12	c.132C>G (p.Asp44Glu)
22	g.49913634G=	CA2410564853	ALG12	c.132C= (p.Asp44=)
22	g.49913634G>T	CA412080896	ALG12	c.132C>A (p.Asp44Glu)
22	g.49913635T>A	CA412080911	ALG12	c.131A>T (p.Asp44Val)
22	g.49913635T>C	CA412080917	ALG12	c.131A>G (p.Asp44Gly)
22	g.49913635T>G	CA412080913	ALG12	c.131A>C (p.Asp44Ala)	dbSNP
22	g.49913635T=	CA2410564854	ALG12	c.131A= (p.Asp44=)
22	g.49913636C>A	CA412080920	ALG12	c.130G>T (p.Asp44Tyr)
22	g.49913636C>G	CA412080929	ALG12	c.130G>C (p.Asp44His)
22	g.49913636C>T	CA412080924	ALG12	c.130G>A (p.Asp44Asn)	gnomAD v4
22	g.49913637A>C	CA412080933	ALG12	c.129T>G (p.His43Gln)
22	g.49913637A>G	CA515106877	ALG12	c.129T>C (p.His43=)	gnomAD v4
22	g.49913637A>T	CA412080936	ALG12	c.129T>A (p.His43Gln)
22	g.49913638T>A	CA412080939	ALG12	c.128A>T (p.His43Leu)
22	g.49913638T>C	CA412080940	ALG12	c.128A>G (p.His43Arg)
22	g.49913638T>G	CA412080941	ALG12	c.128A>C (p.His43Pro)
22	g.49913639G>A	CA412080943	ALG12	c.127C>T (p.His43Tyr)	dbSNP gnomAD v2 gnomAD v4
22	g.49913639G>C	CA412080946	ALG12	c.127C>G (p.His43Asp)	gnomAD v4
22	g.49913639G=	CA2410564855	ALG12	c.127C= (p.His43=)
22	g.49913639G>T	CA412080950	ALG12	c.127C>A (p.His43Asn)
22	g.49913640T>A	CA515106886	ALG12	c.126A>T (p.Thr42=)
22	g.49913640T>C	CA515106887	ALG12	c.126A>G (p.Thr42=)
22	g.49913640T>G	CA515106888	ALG12	c.126A>C (p.Thr42=)
22	g.49913641G>A	CA412080953	ALG12	c.125C>T (p.Thr42Ile)
22	g.49913641G>C	CA412080957	ALG12	c.125C>G (p.Thr42Arg)
22	g.49913641G>T	CA412080961	ALG12	c.125C>A (p.Thr42Lys)
22	g.49913642T>A	CA412080963	ALG12	c.124A>T (p.Thr42Ser)
22	g.49913642T>C	CA412080964	ALG12	c.124A>G (p.Thr42Ala)	gnomAD v4
22	g.49913642T>G	CA325433550	ALG12	c.124A>C (p.Thr42Pro)	dbSNP
22	g.49913642T=	CA2410564856	ALG12	c.124A= (p.Thr42=)
22	g.49913643G>A	CA515106893	ALG12	c.123C>T (p.Ala41=)
22	g.49913643G>C	CA515106895	ALG12	c.123C>G (p.Ala41=)
22	g.49913643G>T	CA515106897	ALG12	c.123C>A (p.Ala41=)
22	g.49913644G>A	CA412080974	ALG12	c.122C>T (p.Ala41Val)
22	g.49913644G>C	CA412080970	ALG12	c.122C>G (p.Ala41Gly)
22	g.49913644G>T	CA412080972	ALG12	c.122C>A (p.Ala41Asp)	gnomAD v4
22	g.49913645C>A	CA412080976	ALG12	c.121G>T (p.Ala41Ser)
22	g.49913645C=	CA2410564857	ALG12	c.121G= (p.Ala41=)
22	g.49913645C>G	CA412080978	ALG12	c.121G>C (p.Ala41Pro)
22	g.49913645C>T	CA10300732	ALG12	c.121G>A (p.Ala41Thr)	dbSNP ExAC gnomAD v4
22	g.49913646C>A	CA412080985	ALG12	c.120G>T (p.Gln40His)
22	g.49913646C>G	CA412080989	ALG12	c.120G>C (p.Gln40His)
22	g.49913646C>T	CA515106902	ALG12	c.120G>A (p.Gln40=)
22	g.49913647T>A	CA10300733	ALG12	c.119A>T (p.Gln40Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913647T>C	CA412080997	ALG12	c.119A>G (p.Gln40Arg)	gnomAD v4
22	g.49913647T>G	CA412081000	ALG12	c.119A>C (p.Gln40Pro)	gnomAD v4
22	g.49913647T=	CA2410564858	ALG12	c.119A= (p.Gln40=)
22	g.49913648G>A	CA412081006	ALG12	c.118C>T (p.Gln40Ter)
22	g.49913648G>C	CA412081008	ALG12	c.118C>G (p.Gln40Glu)
22	g.49913648G>T	CA412081010	ALG12	c.118C>A (p.Gln40Lys)
22	g.49913648_49913649delinsGC	CA2410564859	ALG12	c.117_118delinsGC (p.Leu39=)
22	g.49913649del	CA10300734	ALG12	c.117del (p.Gln40ArgfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913649C>A	CA515106903	ALG12	c.117G>T (p.Leu39=)	gnomAD v4
22	g.49913649C=	CA2410564860	ALG12	c.117G= (p.Leu39=)
22	g.49913649C>G	CA515106904	ALG12	c.117G>C (p.Leu39=)
22	g.49913649C>T	CA325433573	ALG12	c.117G>A (p.Leu39=)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.49913650A>C	CA412081036	ALG12	c.116T>G (p.Leu39Arg)
22	g.49913650A>G	CA412081038	ALG12	c.116T>C (p.Leu39Pro)
22	g.49913650A>T	CA412081040	ALG12	c.116T>A (p.Leu39Gln)
22	g.49913651G>A	CA515106911	ALG12	c.115C>T (p.Leu39=)
22	g.49913651G>C	CA412081044	ALG12	c.115C>G (p.Leu39Val)	dbSNP gnomAD v3 gnomAD v4
22	g.49913651G=	CA2410564861	ALG12	c.115C= (p.Leu39=)
22	g.49913651G>T	CA412081053	ALG12	c.115C>A (p.Leu39Met)
22	g.49913652G>A	CA515106912	ALG12	c.114C>T (p.Asn38=)	dbSNP gnomAD v2 gnomAD v4
22	g.49913652G>C	CA412081057	ALG12	c.114C>G (p.Asn38Lys)
22	g.49913652G=	CA2410564862	ALG12	c.114C= (p.Asn38=)
22	g.49913652G>T	CA412081061	ALG12	c.114C>A (p.Asn38Lys)
22	g.49913653T>A	CA412081066	ALG12	c.113A>T (p.Asn38Ile)
22	g.49913653T>C	CA412081069	ALG12	c.113A>G (p.Asn38Ser)
22	g.49913653T>G	CA412081070	ALG12	c.113A>C (p.Asn38Thr)
22	g.49913654T>A	CA412081071	ALG12	c.112A>T (p.Asn38Tyr)
22	g.49913654T>C	CA412081072	ALG12	c.112A>G (p.Asn38Asp)
22	g.49913654T>G	CA412081073	ALG12	c.112A>C (p.Asn38His)
22	g.49913655G>A	CA515106917	ALG12	c.111C>T (p.Phe37=)
22	g.49913655G>C	CA412081075	ALG12	c.111C>G (p.Phe37Leu)	gnomAD v4
22	g.49913655G>T	CA412081077	ALG12	c.111C>A (p.Phe37Leu)
22	g.49913656A>C	CA412081081	ALG12	c.110T>G (p.Phe37Cys)
22	g.49913656A>G	CA412081085	ALG12	c.110T>C (p.Phe37Ser)
22	g.49913656A>T	CA412081092	ALG12	c.110T>A (p.Phe37Tyr)
22	g.49913657A>C	CA412081095	ALG12	c.109T>G (p.Phe37Val)	gnomAD v4
22	g.49913657A>G	CA412081100	ALG12	c.109T>C (p.Phe37Leu)
22	g.49913657A>T	CA412081108	ALG12	c.109T>A (p.Phe37Ile)
22	g.49913658G>A	CA515106924	ALG12	c.108C>T (p.Ser36=)
22	g.49913658G>C	CA412081111	ALG12	c.108C>G (p.Ser36Arg)	ClinVar gnomAD v4
22	g.49913658G>T	CA412081114	ALG12	c.108C>A (p.Ser36Arg)
22	g.49913659C>A	CA412081118	ALG12	c.107G>T (p.Ser36Ile)
22	g.49913659C>G	CA412081121	ALG12	c.107G>C (p.Ser36Thr)
22	g.49913659C>T	CA412081122	ALG12	c.107G>A (p.Ser36Asn)
22	g.49913660T>A	CA412081124	ALG12	c.106A>T (p.Ser36Cys)
22	g.49913660T>C	CA412081125	ALG12	c.106A>G (p.Ser36Gly)
22	g.49913660T>G	CA412081123	ALG12	c.106A>C (p.Ser36Arg)
22	g.49913660_49913663delinsTCTC	CA2410564863	ALG12	c.103_106delinsGAGA (p.Glu35=)
22	g.49913661C>A	CA412081129	ALG12	c.105G>T (p.Glu35Asp)
22	g.49913661C>G	CA412081133	ALG12	c.105G>C (p.Glu35Asp)
22	g.49913661C>T	CA515106039	ALG12	c.105G>A (p.Glu35=)	ClinVar
22	g.49913665_49913667del	CA10300735	ALG12	c.103_105del (p.Glu35del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913662T>A	CA412081142	ALG12	c.104A>T (p.Glu35Val)
22	g.49913662T>C	CA412081144	ALG12	c.104A>G (p.Glu35Gly)
22	g.49913662T>G	CA412081148	ALG12	c.104A>C (p.Glu35Ala)
22	g.49913663C>A	CA412081163	ALG12	c.103G>T (p.Glu35Ter)
22	g.49913663C>G	CA412081154	ALG12	c.103G>C (p.Glu35Gln)
22	g.49913663C>T	CA412081159	ALG12	c.103G>A (p.Glu35Lys)
22	g.49913664C>A	CA412081167	ALG12	c.102G>T (p.Glu34Asp)
22	g.49913664C>G	CA412081171	ALG12	c.102G>C (p.Glu34Asp)
22	g.49913664C>T	CA515106049	ALG12	c.102G>A (p.Glu34=)
22	g.49913665T>A	CA412081172	ALG12	c.101A>T (p.Glu34Val)
22	g.49913665T>C	CA412081173	ALG12	c.101A>G (p.Glu34Gly)
22	g.49913665T>G	CA412081174	ALG12	c.101A>C (p.Glu34Ala)
22	g.49913666C>A	CA412081176	ALG12	c.100G>T (p.Glu34Ter)
22	g.49913666C>G	CA412081182	ALG12	c.100G>C (p.Glu34Gln)	gnomAD v4
22	g.49913666C>T	CA412081179	ALG12	c.100G>A (p.Glu34Lys)
22	g.49913667C>A	CA515106056	ALG12	c.99G>T (p.Val33=)
22	g.49913667C=	CA2410564864	ALG12	c.99G= (p.Val33=)
22	g.49913667C>G	CA515106055	ALG12	c.99G>C (p.Val33=)
22	g.49913667C>T	CA10300736	ALG12	c.99G>A (p.Val33=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913668A=	CA2410564865	ALG12	c.98T= (p.Val33=)
22	g.49913668A>C	CA412081194	ALG12	c.98T>G (p.Val33Gly)
22	g.49913668A>G	CA412081198	ALG12	c.98T>C (p.Val33Ala)	dbSNP gnomAD v2 gnomAD v4
22	g.49913668A>T	CA412081201	ALG12	c.98T>A (p.Val33Glu)
22	g.49913669C>A	CA412081206	ALG12	c.97G>T (p.Val33Leu)
22	g.49913669C>G	CA412081234	ALG12	c.97G>C (p.Val33Leu)
22	g.49913669C>T	CA412081238	ALG12	c.97G>A (p.Val33Met)
22	g.49913670T>A	CA412081251	ALG12	c.96A>T (p.Lys32Asn)
22	g.49913670T>C	CA515106058	ALG12	c.96A>G (p.Lys32=)	ClinVar dbSNP
22	g.49913670T>G	CA412081253	ALG12	c.96A>C (p.Lys32Asn)
22	g.49913671T>A	CA412081254	ALG12	c.95A>T (p.Lys32Ile)
22	g.49913671T>C	CA412081255	ALG12	c.95A>G (p.Lys32Arg)
22	g.49913671T>G	CA412081257	ALG12	c.95A>C (p.Lys32Thr)
22	g.49913672T>A	CA412081260	ALG12	c.94A>T (p.Lys32Ter)
22	g.49913672T>C	CA412081269	ALG12	c.94A>G (p.Lys32Glu)	dbSNP gnomAD v2 gnomAD v4
22	g.49913672T>G	CA412081264	ALG12	c.94A>C (p.Lys32Gln)
22	g.49913672T=	CA2410564866	ALG12	c.94A= (p.Lys32=)
22	g.49913673G>A	CA515106059	ALG12	c.93C>T (p.Thr31=)
22	g.49913673G>C	CA515106060	ALG12	c.93C>G (p.Thr31=)
22	g.49913673G>T	CA515106061	ALG12	c.93C>A (p.Thr31=)
22	g.49913674G>A	CA412081274	ALG12	c.92C>T (p.Thr31Ile)
22	g.49913674G>C	CA412081278	ALG12	c.92C>G (p.Thr31Ser)
22	g.49913674G>T	CA412081281	ALG12	c.92C>A (p.Thr31Asn)
22	g.49913675T>A	CA412081285	ALG12	c.91A>T (p.Thr31Ser)
22	g.49913675T>C	CA412081289	ALG12	c.91A>G (p.Thr31Ala)	ClinVar dbSNP gnomAD v4
22	g.49913675T>G	CA412081294	ALG12	c.91A>C (p.Thr31Pro)
22	g.49913675T=	CA2410564867	ALG12	c.91A= (p.Thr31=)
22	g.49913676G>A	CA515106065	ALG12	c.90C>T (p.Tyr30=)	dbSNP gnomAD v2 gnomAD v4
22	g.49913676G>C	CA412081299	ALG12	c.90C>G (p.Tyr30Ter)
22	g.49913676G=	CA2410564868	ALG12	c.90C= (p.Tyr30=)
22	g.49913676G>T	CA412081296	ALG12	c.90C>A (p.Tyr30Ter)
22	g.49913677T>A	CA412081306	ALG12	c.89A>T (p.Tyr30Phe)
22	g.49913677T>C	CA412081309	ALG12	c.89A>G (p.Tyr30Cys)
22	g.49913677T>G	CA412081313	ALG12	c.89A>C (p.Tyr30Ser)
22	g.49913678A=	CA2410564869	ALG12	c.88T= (p.Tyr30=)
22	g.49913678A>C	CA412081317	ALG12	c.88T>G (p.Tyr30Asp)
22	g.49913678A>G	CA412081320	ALG12	c.88T>C (p.Tyr30His)	gnomAD v4
22	g.49913678A>T	CA412081325	ALG12	c.88T>A (p.Tyr30Asn)	dbSNP gnomAD v2 gnomAD v4
22	g.49913679G>A	CA515106066	ALG12	c.87C>T (p.Pro29=)
22	g.49913679G>C	CA515106067	ALG12	c.87C>G (p.Pro29=)
22	g.49913679G>T	CA515106068	ALG12	c.87C>A (p.Pro29=)
22	g.49913681del	CA2657454681	ALG12	c.87del (p.Tyr30ThrfsTer?)	gnomAD v4
22	g.49913680G>A	CA412081328	ALG12	c.86C>T (p.Pro29Leu)
22	g.49913680G>C	CA412081335	ALG12	c.86C>G (p.Pro29Arg)
22	g.49913680G>T	CA412081332	ALG12	c.86C>A (p.Pro29His)
22	g.49913681G>A	CA412081341	ALG12	c.85C>T (p.Pro29Ser)	ClinVar dbSNP gnomAD v4
22	g.49913681G>C	CA412081368	ALG12	c.85C>G (p.Pro29Ala)
22	g.49913681G=	CA2410564870	ALG12	c.85C= (p.Pro29=)
22	g.49913681G>T	CA412081373	ALG12	c.85C>A (p.Pro29Thr)
22	g.49913682A=	CA2410564871	ALG12	c.84T= (p.Cys28=)
22	g.49913682A>C	CA412081382	ALG12	c.84T>G (p.Cys28Trp)
22	g.49913682A>G	CA515106069	ALG12	c.84T>C (p.Cys28=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913682A>T	CA412081384	ALG12	c.84T>A (p.Cys28Ter)
22	g.49913683C>A	CA412081388	ALG12	c.83G>T (p.Cys28Phe)	dbSNP
22	g.49913683C=	CA2410564872	ALG12	c.83G= (p.Cys28=)
22	g.49913683C>G	CA412081394	ALG12	c.83G>C (p.Cys28Ser)
22	g.49913683C>T	CA412081395	ALG12	c.83G>A (p.Cys28Tyr)	dbSNP gnomAD v2 gnomAD v4
22	g.49913684A>C	CA412081398	ALG12	c.82T>G (p.Cys28Gly)
22	g.49913684A>G	CA412081401	ALG12	c.82T>C (p.Cys28Arg)
22	g.49913684A>T	CA412081404	ALG12	c.82T>A (p.Cys28Ser)
22	g.49913685G>A	CA515106070	ALG12	c.81C>T (p.Ile27=)	ClinVar dbSNP
22	g.49913685G>C	CA412081414	ALG12	c.81C>G (p.Ile27Met)
22	g.49913685G>T	CA515106071	ALG12	c.81C>A (p.Ile27=)
22	g.49913686A>C	CA412081421	ALG12	c.80T>G (p.Ile27Ser)
22	g.49913686A>G	CA412081416	ALG12	c.80T>C (p.Ile27Thr)
22	g.49913686A>T	CA412081423	ALG12	c.80T>A (p.Ile27Asn)
22	g.49913687T>A	CA412081428	ALG12	c.79A>T (p.Ile27Phe)
22	g.49913687T>C	CA412081432	ALG12	c.79A>G (p.Ile27Val)	gnomAD v4
22	g.49913687T>G	CA412081431	ALG12	c.79A>C (p.Ile27Leu)
22	g.49913688G>A	CA515106074	ALG12	c.78C>T (p.Val26=)
22	g.49913688G>C	CA515106072	ALG12	c.78C>G (p.Val26=)
22	g.49913688G>T	CA515106073	ALG12	c.78C>A (p.Val26=)	gnomAD v4
22	g.49913689A=	CA2410564873	ALG12	c.77T= (p.Val26=)
22	g.49913689A>C	CA412081436	ALG12	c.77T>G (p.Val26Gly)
22	g.49913689A>G	CA412081447	ALG12	c.77T>C (p.Val26Ala)
22	g.49913689A>T	CA412081450	ALG12	c.77T>A (p.Val26Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913690C>A	CA412081457	ALG12	c.76G>T (p.Val26Phe)
22	g.49913690C=	CA2410564874	ALG12	c.76G= (p.Val26=)
22	g.49913690C>G	CA412081460	ALG12	c.76G>C (p.Val26Leu)	gnomAD v4
22	g.49913690C>T	CA10300737	ALG12	c.76G>A (p.Val26Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913691del	CA2577757015	ALG12	c.76del (p.Val26SerfsTer?)	gnomAD v4
22	g.49913691C>A	CA515106077	ALG12	c.75G>T (p.Leu25=)
22	g.49913691C=	CA2410564875	ALG12	c.75G= (p.Leu25=)
22	g.49913691C>G	CA515106076	ALG12	c.75G>C (p.Leu25=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913691C>T	CA515106075	ALG12	c.75G>A (p.Leu25=)
22	g.49913692A>C	CA412081466	ALG12	c.74T>G (p.Leu25Arg)
22	g.49913692A>G	CA412081475	ALG12	c.74T>C (p.Leu25Pro)	gnomAD v4
22	g.49913692A>T	CA412081485	ALG12	c.74T>A (p.Leu25Gln)
22	g.49913693G>A	CA515106078	ALG12	c.73C>T (p.Leu25=)	dbSNP gnomAD v2
22	g.49913693G>C	CA412081489	ALG12	c.73C>G (p.Leu25Val)
22	g.49913693G=	CA2410564876	ALG12	c.73C= (p.Leu25=)
22	g.49913693G>T	CA412081490	ALG12	c.73C>A (p.Leu25Met)
22	g.49913694G>A	CA515106079	ALG12	c.72C>T (p.His24=)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.49913694G>C	CA325433577	ALG12	c.72C>G (p.His24Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913694G=	CA2410564877	ALG12	c.72C= (p.His24=)
22	g.49913694G>T	CA412081492	ALG12	c.72C>A (p.His24Gln)
22	g.49913695T>A	CA412081495	ALG12	c.71A>T (p.His24Leu)
22	g.49913695T>C	CA412081510	ALG12	c.71A>G (p.His24Arg)
22	g.49913695T>G	CA412081498	ALG12	c.71A>C (p.His24Pro)
22	g.49913696G>A	CA412081515	ALG12	c.70C>T (p.His24Tyr)	gnomAD v4
22	g.49913696G>C	CA412081519	ALG12	c.70C>G (p.His24Asp)
22	g.49913696G>T	CA412081521	ALG12	c.70C>A (p.His24Asn)
22	g.49913697G>A	CA10300738	ALG12	c.69C>T (p.Val23=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913697G>C	CA515106080	ALG12	c.69C>G (p.Val23=)
22	g.49913697G=	CA2410564878	ALG12	c.69C= (p.Val23=)
22	g.49913697G>T	CA515106081	ALG12	c.69C>A (p.Val23=)
22	g.49913698A=	CA2410564879	ALG12	c.68T= (p.Val23=)
22	g.49913698A>C	CA412081524	ALG12	c.68T>G (p.Val23Gly)
22	g.49913698A>G	CA10300739	ALG12	c.68T>C (p.Val23Ala)	dbSNP ExAC gnomAD v3 gnomAD v4
22	g.49913698A>T	CA412081525	ALG12	c.68T>A (p.Val23Asp)
22	g.49913699C>A	CA412081529	ALG12	c.67G>T (p.Val23Phe)
22	g.49913699C>G	CA412081530	ALG12	c.67G>C (p.Val23Leu)
22	g.49913699C>T	CA412081534	ALG12	c.67G>A (p.Val23Ile)
22	g.49913700A=	CA2410564880	ALG12	c.66T= (p.Thr22=)
22	g.49913700A>C	CA515106082	ALG12	c.66T>G (p.Thr22=)	gnomAD v4
22	g.49913700A>G	CA515106083	ALG12	c.66T>C (p.Thr22=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913700A>T	CA515106084	ALG12	c.66T>A (p.Thr22=)
22	g.49913701G>A	CA412081547	ALG12	c.65C>T (p.Thr22Ile)
22	g.49913701G>C	CA412081544	ALG12	c.65C>G (p.Thr22Ser)
22	g.49913701G>T	CA412081537	ALG12	c.65C>A (p.Thr22Asn)
22	g.49913702T>A	CA412081549	ALG12	c.64A>T (p.Thr22Ser)
22	g.49913702T>C	CA412081554	ALG12	c.64A>G (p.Thr22Ala)
22	g.49913702T>G	CA412081557	ALG12	c.64A>C (p.Thr22Pro)	gnomAD v4
22	g.49913703G>A	CA515106085	ALG12	c.63C>T (p.Ala21=)	dbSNP gnomAD v4
22	g.49913703G>C	CA515106086	ALG12	c.63C>G (p.Ala21=)
22	g.49913703G=	CA2410564881	ALG12	c.63C= (p.Ala21=)
22	g.49913703G>T	CA515106087	ALG12	c.63C>A (p.Ala21=)
22	g.49913704G>A	CA10300740	ALG12	c.62C>T (p.Ala21Val)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913704G>C	CA412081563	ALG12	c.62C>G (p.Ala21Gly)
22	g.49913704G=	CA2410564882	ALG12	c.62C= (p.Ala21=)
22	g.49913704G>T	CA412081566	ALG12	c.62C>A (p.Ala21Asp)
22	g.49913705C>A	CA412081567	ALG12	c.61G>T (p.Ala21Ser)
22	g.49913705C>G	CA412081568	ALG12	c.61G>C (p.Ala21Pro)
22	g.49913705C>T	CA412081569	ALG12	c.61G>A (p.Ala21Thr)
22	g.49913706T>A	CA515106088	ALG12	c.60A>T (p.Val20=)
22	g.49913706T>C	CA515106089	ALG12	c.60A>G (p.Val20=)
22	g.49913706T>G	CA515106090	ALG12	c.60A>C (p.Val20=)
22	g.49913707A>C	CA412081571	ALG12	c.59T>G (p.Val20Gly)
22	g.49913707A>G	CA412081572	ALG12	c.59T>C (p.Val20Ala)
22	g.49913707A>T	CA412081574	ALG12	c.59T>A (p.Val20Glu)
22	g.49913708C>A	CA10300741	ALG12	c.58G>T (p.Val20Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913708C=	CA2410564883	ALG12	c.58G= (p.Val20=)
22	g.49913708C>G	CA412081579	ALG12	c.58G>C (p.Val20Leu)
22	g.49913708C>T	CA10300742	ALG12	c.58G>A (p.Val20Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913709_49913718dup	CA2738226432	ALG12	c.49_58dup (p.Val20AlafsTer28)	dbSNP

Number of alleles fetched