Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.49913543_49913588delinsCACCGGGGCCCTGCCAGCTGGTAACATGAGGTTTTCCCCAAAGACA	CA2410564795	ALG12	c.162+16_163-26delinsTGTCTTTGGGGAAAACCTCATGTTACCAGCTGGCAGGGCCCCGGTG (n.162+16_163-26delinsTGTCTTTGGGGAAAACCTCATGTTACCAGCTGGCAGGGCCCCGGTG)
22	g.49913544_49913588del	CA640352374	ALG12	c.162+16_163-27del (n.162+16_163-27del)	dbSNP gnomAD v2
22	g.49913562G>A	CA2410564805	ALG12	c.162+42C>T (n.162+42C>T)	dbSNP gnomAD v4
22	g.49913562G=	CA2410564804	ALG12	c.162+42C= (n.162+42C=)
22	g.49913563G=	CA2410564806	ALG12	c.162+41C= (n.162+41C=)
22	g.49913563G>T	CA640352376	ALG12	c.162+41C>A (n.162+41C>A)	dbSNP gnomAD v2 gnomAD v4
22	g.49913564T>C	CA325433471	ALG12	c.162+40A>G (n.162+40A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913564T=	CA2410564807	ALG12	c.162+40A= (n.162+40A=)
22	g.49913567C=	CA2410564808	ALG12	c.162+37G= (n.162+37G=)
22	g.49913567C>T	CA10300719	ALG12	c.162+37G>A (n.162+37G>A)	dbSNP ExAC gnomAD v2
22	g.49913568A=	CA2410564809	ALG12	c.162+36T= (n.162+36T=)
22	g.49913568A>C	CA2657454184	ALG12	c.162+36T>G (n.162+36T>G)	gnomAD v4
22	g.49913568A>G	CA754007747	ALG12	c.162+36T>C (n.162+36T>C)	dbSNP gnomAD v3 gnomAD v4
22	g.49913569T>A	CA2657454190	ALG12	c.162+35A>T (n.162+35A>T)	gnomAD v4
22	g.49913569T>C	CA640352377	ALG12	c.162+35A>G (n.162+35A>G)	dbSNP gnomAD v2 gnomAD v4
22	g.49913569T=	CA2410564810	ALG12	c.162+35A= (n.162+35A=)
22	g.49913570G>A	CA2738156883	ALG12	c.162+34C>T (n.162+34C>T)	dbSNP
22	g.49913570G>C	CA754007765	ALG12	c.162+34C>G (n.162+34C>G)	dbSNP gnomAD v3 gnomAD v4
22	g.49913570G=	CA2410564811	ALG12	c.162+34C= (n.162+34C=)
22	g.49913572G>C	CA325433480	ALG12	c.162+32C>G (n.162+32C>G)	dbSNP
22	g.49913572G=	CA2410564812	ALG12	c.162+32C= (n.162+32C=)
22	g.49913572G>T	CA640352378	ALG12	c.162+32C>A (n.162+32C>A)	dbSNP gnomAD v2 gnomAD v4
22	g.49913575T>A	CA2657454226	ALG12	c.162+29A>T (n.162+29A>T)	gnomAD v4
22	g.49913577T>G	CA2577756998	ALG12	c.162+27A>C (n.162+27A>C)
22	g.49913577T=	CA2410564813	ALG12	c.162+27A= (n.162+27A=)
22	g.49913578C=	CA2410564814	ALG12	c.162+26G= (n.162+26G=)
22	g.49913578C>G	CA10300720	ALG12	c.162+26G>C (n.162+26G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913578C>T	CA2657454256	ALG12	c.162+26G>A (n.162+26G>A)	gnomAD v4
22	g.49913581dup	CA325433483	ALG12	c.162+26dup (n.162+26dup)	dbSNP gnomAD v2 gnomAD v4
22	g.49913579C>T	CA2657454262	ALG12	c.162+25G>A (n.162+25G>A)	gnomAD v4
22	g.49913580C>A	CA2577756999	ALG12	c.162+24G>T (n.162+24G>T)
22	g.49913580C=	CA2410564815	ALG12	c.162+24G= (n.162+24G=)
22	g.49913580C>T	CA10300721	ALG12	c.162+24G>A (n.162+24G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913581C>A	CA2577757000	ALG12	c.162+23G>T (n.162+23G>T)	gnomAD v4
22	g.49913581_49913582delinsCA	CA2410564816	ALG12	c.162+22_162+23delinsTG (n.162+22_162+23delinsTG)
22	g.49913582A=	CA2410564817	ALG12	c.162+22T= (n.162+22T=)
22	g.49913582A>C	CA2410564818	ALG12	c.162+22T>G (n.162+22T>G)	dbSNP
22	g.49913584del	CA10300722	ALG12	c.162+22del (n.162+22del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913585G>A	CA10300723	ALG12	c.162+19C>T (n.162+19C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913585G=	CA2410564819	ALG12	c.162+19C= (n.162+19C=)
22	g.49913586A=	CA2410564820	ALG12	c.162+18T= (n.162+18T=)
22	g.49913586A>G	CA2410564821	ALG12	c.162+18T>C (n.162+18T>C)	ClinVar dbSNP gnomAD v4
22	g.49913588A=	CA2410564822	ALG12	c.162+16T= (n.162+16T=)
22	g.49913588A>C	CA10300724	ALG12	c.162+16T>G (n.162+16T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913588A>G	CA325433510	ALG12	c.162+16T>C (n.162+16T>C)	dbSNP
22	g.49913589G>A	CA2657454292	ALG12	c.162+15C>T (n.162+15C>T)	gnomAD v4
22	g.49913590C>T	CA2577757001	ALG12	c.162+14G>A (n.162+14G>A)
22	g.49913591A=	CA2410564824	ALG12	c.162+13T= (n.162+13T=)
22	g.49913591A>C	CA2410564825	ALG12	c.162+13T>G (n.162+13T>G)	dbSNP
22	g.49913591_49913592delinsAG	CA2410564823	ALG12	c.162+12_162+13delinsCT (n.162+12_162+13delinsCT)
22	g.49913592G>A	CA1026586192	ALG12	c.162+12C>T (n.162+12C>T)	dbSNP gnomAD v3 gnomAD v4
22	g.49913592G=	CA2410564826	ALG12	c.162+12C= (n.162+12C=)
22	g.49913595dup	CA10300725	ALG12	c.162+12dup (n.162+12dup)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913595del	CA1026586186	ALG12	c.162+12del (n.162+12del)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.49913593G>A	CA1026586195	ALG12	c.162+11C>T (n.162+11C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
22	g.49913593G=	CA2410564827	ALG12	c.162+11C= (n.162+11C=)
22	g.49913593G>T	CA2657454310	ALG12	c.162+11C>A (n.162+11C>A)	gnomAD v4
22	g.49913594G>A	CA754007776	ALG12	c.162+10C>T (n.162+10C>T)	dbSNP gnomAD v3 gnomAD v4
22	g.49913594G>C	CA2657454314	ALG12	c.162+10C>G (n.162+10C>G)	dbSNP gnomAD v4
22	g.49913594G=	CA2410564828	ALG12	c.162+10C= (n.162+10C=)
22	g.49913594G>T	CA2739265709	ALG12	c.162+10C>A (n.162+10C>A)	ClinVar
22	g.49913594_49913595insAAAGACA	CA640352379	ALG12	c.162+9_162+10insTGTCTTT (n.162+9_162+10insTGTCTTT)	dbSNP gnomAD v2 gnomAD v4
22	g.49913596C>A	CA2657454324	ALG12	c.162+8G>T (n.162+8G>T)	gnomAD v4
22	g.49913596C=	CA2410564829	ALG12	c.162+8G= (n.162+8G=)
22	g.49913596C>T	CA2657454328	ALG12	c.162+8G>A (n.162+8G>A)	gnomAD v4
22	g.49913596_49913597insAAGGTTTT	CA640352380	ALG12	c.162+7_162+8insAAAACCTT (n.162+7_162+8insAAAACCTT)	dbSNP gnomAD v2 gnomAD v4
22	g.49913597C>A	CA640352381	ALG12	c.162+7G>T (n.162+7G>T)	dbSNP gnomAD v2 gnomAD v4
22	g.49913597C=	CA2410564830	ALG12	c.162+7G= (n.162+7G=)
22	g.49913597C>T	CA2657454339	ALG12	c.162+7G>A (n.162+7G>A)	gnomAD v4
22	g.49913598C>A	CA754007790	ALG12	c.162+6G>T (n.162+6G>T)	dbSNP
22	g.49913598C=	CA2410564831	ALG12	c.162+6G= (n.162+6G=)
22	g.49913599C>A	CA2577757002	ALG12	c.162+5G>T (n.162+5G>T)
22	g.49913599C=	CA2410564832	ALG12	c.162+5G= (n.162+5G=)
22	g.49913599C>G	CA10300726	ALG12	c.162+5G>C (n.162+5G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913599_49913600delinsCT	CA2410564833	ALG12	c.162+4_162+5delinsAG (n.162+4_162+5delinsAG)
22	g.49913600del	CA640352382	ALG12	c.162+4del (n.162+4del)	dbSNP gnomAD v2 gnomAD v4
22	g.49913600T>C	CA640352383	ALG12	c.162+4A>G (n.162+4A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913600T=	CA2410564834	ALG12	c.162+4A= (n.162+4A=)
22	g.49913601C>A	CA2657454358	ALG12	c.162+3G>T (n.162+3G>T)	gnomAD v4
22	g.49913601C=	CA2410564835	ALG12	c.162+3G= (n.162+3G=)
22	g.49913601C>T	CA640352384	ALG12	c.162+3G>A (n.162+3G>A)	dbSNP gnomAD v2 gnomAD v4
22	g.49913602A=	CA2410564836	ALG12	c.162+2T= (n.162+2T=)
22	g.49913602A>C	CA412080534	ALG12	c.162+2T>G (n.162+2T>G)	gnomAD v4
22	g.49913602A>G	CA412080536	ALG12	c.162+2T>C (n.162+2T>C)	dbSNP
22	g.49913602A>T	CA412080538	ALG12	c.162+2T>A (n.162+2T>A)
22	g.49913602_49913603insAAG	CA640352385	ALG12	c.162+1_162+2insCTT (n.162+1_162+2insCTT)	dbSNP gnomAD v2 gnomAD v4
22	g.49913603C>A	CA16043186	ALG12	c.162+1G>T (n.162+1G>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
22	g.49913603C=	CA2410564837	ALG12	c.162+1G= (n.162+1G=)
22	g.49913603C>G	CA412080547	ALG12	c.162+1G>C (n.162+1G>C)
22	g.49913603C>T	CA412080541	ALG12	c.162+1G>A (n.162+1G>A)
22	g.49913604C>A	CA412080552	ALG12	c.162G>T (p.Gln54His)
22	g.49913604C>G	CA412080556	ALG12	c.162G>C (p.Gln54His)
22	g.49913604C>T	CA515106813	ALG12	c.162G>A (p.Gln54=)
22	g.49913605T>A	CA412080561	ALG12	c.161A>T (p.Gln54Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.49913605T>C	CA412080562	ALG12	c.161A>G (p.Gln54Arg)
22	g.49913605T>G	CA412080563	ALG12	c.161A>C (p.Gln54Pro)	gnomAD v4
22	g.49913605T=	CA2410564838	ALG12	c.161A= (p.Gln54=)
22	g.49913606G>A	CA412080572	ALG12	c.160C>T (p.Gln54Ter)	ClinVar
22	g.49913606G>C	CA412080564	ALG12	c.160C>G (p.Gln54Glu)
22	g.49913606G=	CA2410564839	ALG12	c.160C= (p.Gln54=)
22	g.49913606G>T	CA412080566	ALG12	c.160C>A (p.Gln54Lys)
22	g.49913607C>A	CA412080577	ALG12	c.159G>T (p.Glu53Asp)	COSMIC
22	g.49913607C>G	CA412080578	ALG12	c.159G>C (p.Glu53Asp)
22	g.49913607C>T	CA515106823	ALG12	c.159G>A (p.Glu53=)
22	g.49913607_49913608insAAGAC	CA640352386	ALG12	c.159_160insTCTTG (p.Gln54SerfsTer22)	dbSNP gnomAD v2 gnomAD v4
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)	ClinVar
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)

Number of alleles fetched