Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
22	g.49913734_49913746dup	CA2577757022	ALG12	c.21_33dup (p.Leu12ArgfsTer?)	ClinVar gnomAD v4
22	g.49913734G>A	CA412081743	ALG12	c.32C>T (p.Pro11Leu)	dbSNP gnomAD v2 gnomAD v4
22	g.49913734G>C	CA412081754	ALG12	c.32C>G (p.Pro11Arg)
22	g.49913734G=	CA2410564898	ALG12	c.32C= (p.Pro11=)
22	g.49913734G>T	CA412081755	ALG12	c.32C>A (p.Pro11His)
22	g.49913735G>A	CA10300753	ALG12	c.31C>T (p.Pro11Ser)	dbSNP ExAC gnomAD v4
22	g.49913735G>C	CA412081756	ALG12	c.31C>G (p.Pro11Ala)	gnomAD v4
22	g.49913735G=	CA2410564899	ALG12	c.31C= (p.Pro11=)
22	g.49913735G>T	CA412081757	ALG12	c.31C>A (p.Pro11Thr)
22	g.49913735_49913736delinsGC	CA2410564900	ALG12	c.30_31delinsGC (p.Arg10=)
22	g.49913736C>A	CA515106117	ALG12	c.30G>T (p.Arg10=)
22	g.49913736C=	CA2410564901	ALG12	c.30G= (p.Arg10=)
22	g.49913736C>G	CA10300754	ALG12	c.30G>C (p.Arg10=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913736C>T	CA515106116	ALG12	c.30G>A (p.Arg10=)	ClinVar dbSNP
22	g.49913737del	CA640352311	ALG12	c.30del (p.Leu12CysfsTer9)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913736_49913737insT	CA2741724288	ALG12	c.29_30insA (p.Pro11AlafsTer?)
22	g.49913737C>A	CA412081761	ALG12	c.29G>T (p.Arg10Leu)
22	g.49913737C=	CA2410564902	ALG12	c.29G= (p.Arg10=)
22	g.49913737C>G	CA412081763	ALG12	c.29G>C (p.Arg10Pro)	gnomAD v4
22	g.49913737C>T	CA10300755	ALG12	c.29G>A (p.Arg10Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913737_49913738insAGGTAAGCTACCAGGGAAGGTCATGGCCCAGCTTAGCTGTGGGCAGGCA	CA2741724289	ALG12	c.28_29insTGCCTGCCCACAGCTAAGCTGGGCCATGACCTTCCCTGGTAGCTTACCT (p.Arg10LeufsTer6)
22	g.49913738G>A	CA10300756	ALG12	c.28C>T (p.Arg10Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913738G>C	CA10300757	ALG12	c.28C>G (p.Arg10Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913738G=	CA2410564903	ALG12	c.28C= (p.Arg10=)
22	g.49913738G>T	CA515106118	ALG12	c.28C>A (p.Arg10=)	dbSNP gnomAD v3 gnomAD v4
22	g.49913739C>A	CA412081771	ALG12	c.27G>T (p.Arg9Ser)
22	g.49913739C>G	CA412081773	ALG12	c.27G>C (p.Arg9Ser)
22	g.49913739C>T	CA515106119	ALG12	c.27G>A (p.Arg9=)
22	g.49913740C>A	CA412081777	ALG12	c.26G>T (p.Arg9Met)	dbSNP gnomAD v3 gnomAD v4
22	g.49913740C=	CA2410564904	ALG12	c.26G= (p.Arg9=)
22	g.49913740C>G	CA412081779	ALG12	c.26G>C (p.Arg9Thr)
22	g.49913740C>T	CA10300758	ALG12	c.26G>A (p.Arg9Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913741T>A	CA412081788	ALG12	c.25A>T (p.Arg9Trp)
22	g.49913741T>C	CA412081790	ALG12	c.25A>G (p.Arg9Gly)
22	g.49913741T>G	CA515106120	ALG12	c.25A>C (p.Arg9=)
22	g.49913742G>A	CA515106121	ALG12	c.24C>T (p.Gly8=)
22	g.49913742G>C	CA515106122	ALG12	c.24C>G (p.Gly8=)
22	g.49913742G>T	CA515106123	ALG12	c.24C>A (p.Gly8=)	gnomAD v4
22	g.49913743C>A	CA412081793	ALG12	c.23G>T (p.Gly8Val)
22	g.49913743C>G	CA412081798	ALG12	c.23G>C (p.Gly8Ala)
22	g.49913743C>T	CA412081800	ALG12	c.23G>A (p.Gly8Asp)	gnomAD v4
22	g.49913744C>A	CA412081804	ALG12	c.22G>T (p.Gly8Cys)
22	g.49913744C>G	CA412081807	ALG12	c.22G>C (p.Gly8Arg)
22	g.49913744C>T	CA412081808	ALG12	c.22G>A (p.Gly8Ser)
22	g.49913745T>A	CA515106124	ALG12	c.21A>T (p.Ser7=)
22	g.49913745T>C	CA10300759	ALG12	c.21A>G (p.Ser7=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913745T>G	CA515106125	ALG12	c.21A>C (p.Ser7=)
22	g.49913745T=	CA2410564905	ALG12	c.21A= (p.Ser7=)
22	g.49913746G>A	CA412081814	ALG12	c.20C>T (p.Ser7Leu)
22	g.49913746G>C	CA412081812	ALG12	c.20C>G (p.Ser7Ter)
22	g.49913746G>T	CA412081816	ALG12	c.20C>A (p.Ser7Ter)
22	g.49913747A>C	CA412081822	ALG12	c.19T>G (p.Ser7Ala)
22	g.49913747A>G	CA412081830	ALG12	c.19T>C (p.Ser7Pro)
22	g.49913747A>T	CA412081827	ALG12	c.19T>A (p.Ser7Thr)
22	g.49913748T>A	CA515106126	ALG12	c.18A>T (p.Ser6=)
22	g.49913748T>C	CA10300760	ALG12	c.18A>G (p.Ser6=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913748T>G	CA515106127	ALG12	c.18A>C (p.Ser6=)
22	g.49913748T=	CA2410564906	ALG12	c.18A= (p.Ser6=)
22	g.49913749G>A	CA412081839	ALG12	c.17C>T (p.Ser6Leu)	dbSNP
22	g.49913749G>C	CA412081835	ALG12	c.17C>G (p.Ser6Ter)
22	g.49913749G=	CA2410564907	ALG12	c.17C= (p.Ser6=)
22	g.49913749G>T	CA412081837	ALG12	c.17C>A (p.Ser6Ter)
22	g.49913750A>C	CA412081841	ALG12	c.16T>G (p.Ser6Ala)
22	g.49913750A>G	CA412081845	ALG12	c.16T>C (p.Ser6Pro)
22	g.49913750A>T	CA412081846	ALG12	c.16T>A (p.Ser6Thr)
22	g.49913750_49913752del	CA2657454912	ALG12	c.14_16del (p.Gly5_Ser6delinsAla)	gnomAD v4
22	g.49913751C>A	CA515106128	ALG12	c.15G>T (p.Gly5=)
22	g.49913751C=	CA2410564908	ALG12	c.15G= (p.Gly5=)
22	g.49913751C>G	CA515106129	ALG12	c.15G>C (p.Gly5=)
22	g.49913751C>T	CA325433653	ALG12	c.15G>A (p.Gly5=)	dbSNP gnomAD v4
22	g.49913752C>A	CA412081847	ALG12	c.14G>T (p.Gly5Val)
22	g.49913752C=	CA2410564909	ALG12	c.14G= (p.Gly5=)
22	g.49913752C>G	CA412081848	ALG12	c.14G>C (p.Gly5Ala)
22	g.49913752C>T	CA10300761	ALG12	c.14G>A (p.Gly5Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913753C>A	CA412081851	ALG12	c.13G>T (p.Gly5Trp)
22	g.49913753C>G	CA412081853	ALG12	c.13G>C (p.Gly5Arg)
22	g.49913753C>T	CA412081855	ALG12	c.13G>A (p.Gly5Arg)	COSMIC
22	g.49913754C>A	CA412081858	ALG12	c.12G>T (p.Lys4Asn)
22	g.49913754C>G	CA412081859	ALG12	c.12G>C (p.Lys4Asn)	gnomAD v4
22	g.49913754C>T	CA515106130	ALG12	c.12G>A (p.Lys4=)	gnomAD v4
22	g.49913754_49913755delinsCT	CA2410564910	ALG12	c.11_12delinsAG (p.Lys4=)
22	g.49913755T>A	CA412081862	ALG12	c.11A>T (p.Lys4Met)
22	g.49913755T>C	CA412081861	ALG12	c.11A>G (p.Lys4Arg)
22	g.49913755T>G	CA412081860	ALG12	c.11A>C (p.Lys4Thr)
22	g.49913757del	CA2410564911	ALG12	c.11del (p.Lys4ArgfsTer17)	dbSNP
22	g.49913756T>A	CA412081865	ALG12	c.10A>T (p.Lys4Ter)
22	g.49913756T>C	CA412081867	ALG12	c.10A>G (p.Lys4Glu)
22	g.49913756T>G	CA412081870	ALG12	c.10A>C (p.Lys4Gln)
22	g.49913757T>A	CA515106132	ALG12	c.9A>T (p.Gly3=)
22	g.49913757T>C	CA10300762	ALG12	c.9A>G (p.Gly3=)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913757T>G	CA515106131	ALG12	c.9A>C (p.Gly3=)
22	g.49913757T=	CA2410564912	ALG12	c.9A= (p.Gly3=)
22	g.49913758C>A	CA412081876	ALG12	c.8G>T (p.Gly3Val)
22	g.49913758C>G	CA412081879	ALG12	c.8G>C (p.Gly3Ala)
22	g.49913758C>T	CA412081885	ALG12	c.8G>A (p.Gly3Glu)
22	g.49913759del	CA2657454934	ALG12	c.8del (p.Gly3GlufsTer18)	gnomAD v4
22	g.49913759C>A	CA412081889	ALG12	c.7G>T (p.Gly3Ter)
22	g.49913759C=	CA2410564913	ALG12	c.7G= (p.Gly3=)
22	g.49913759C>G	CA412081891	ALG12	c.7G>C (p.Gly3Arg)
22	g.49913759C>T	CA412081893	ALG12	c.7G>A (p.Gly3Arg)	dbSNP gnomAD v4
22	g.49913760A>C	CA515106133	ALG12	c.6T>G (p.Ala2=)
22	g.49913760A>G	CA515106134	ALG12	c.6T>C (p.Ala2=)
22	g.49913760A>T	CA515106135	ALG12	c.6T>A (p.Ala2=)
22	g.49913761G>A	CA412081897	ALG12	c.5C>T (p.Ala2Val)
22	g.49913761G>C	CA412081901	ALG12	c.5C>G (p.Ala2Gly)
22	g.49913761G=	CA2410564914	ALG12	c.5C= (p.Ala2=)
22	g.49913761G>T	CA412081906	ALG12	c.5C>A (p.Ala2Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913762C>A	CA412081912	ALG12	c.4G>T (p.Ala2Ser)	gnomAD v4
22	g.49913762C=	CA2410564915	ALG12	c.4G= (p.Ala2=)
22	g.49913762C>G	CA412081919	ALG12	c.4G>C (p.Ala2Pro)
22	g.49913762C>T	CA10300763	ALG12	c.4G>A (p.Ala2Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913763C>A	CA412081923	ALG12	c.3G>T (p.Met1Ile)
22	g.49913763C>G	CA412081927	ALG12	c.3G>C (p.Met1Ile)
22	g.49913763C>T	CA412081930	ALG12	c.3G>A (p.Met1Ile)
22	g.49913764A>C	CA412081935	ALG12	c.2T>G (p.Met1Arg)
22	g.49913764A>G	CA412081938	ALG12	c.2T>C (p.Met1Thr)
22	g.49913764A>T	CA412081940	ALG12	c.2T>A (p.Met1Lys)
22	g.49913765T>A	CA412081945	ALG12	c.1A>T (p.Met1Leu)
22	g.49913765T>C	CA412081946	ALG12	c.1A>G (p.Met1Val)
22	g.49913765T>G	CA412081949	ALG12	c.1A>C (p.Met1Leu)
22	g.49913767C=	CA2410564916	ALG12	c.-2G= (n.-2G=)
22	g.49913767C>G	CA10300764	ALG12	c.-2G>C (n.-2G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913768C>G	CA2657454947	ALG12	c.-3G>C (n.-3G>C)	gnomAD v4
22	g.49913770G>A	CA754008120	ALG12	c.-5C>T (n.-5C>T)	dbSNP gnomAD v4
22	g.49913770G=	CA2410564917	ALG12	c.-5C= (n.-5C=)
22	g.49913772C>A	CA1026586282	ALG12	c.-7G>T (n.-7G>T)	dbSNP gnomAD v3 gnomAD v4
22	g.49913772C=	CA2410564918	ALG12	c.-7G= (n.-7G=)
22	g.49913773T>C	CA2410564920	ALG12	c.-8A>G (n.-8A>G)	dbSNP
22	g.49913773T>G	CA2410564921	ALG12	c.-8A>C (n.-8A>C)	dbSNP
22	g.49913773T=	CA2410564919	ALG12	c.-8A= (n.-8A=)
22	g.49913775T>A	CA10300765	ALG12	c.-10A>T (n.-10A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913775T=	CA2410564922	ALG12	c.-10A= (n.-10A=)
22	g.49913776C>T	CA2819295135	ALG12	c.-11G>A (n.-11G>A)
22	g.49913778G>A	CA754008122	ALG12	c.-13C>T (n.-13C>T)	dbSNP gnomAD v3 gnomAD v4
22	g.49913778G=	CA2410564923	ALG12	c.-13C= (n.-13C=)
22	g.49913778_49913788delinsGCTTCACGTAC	CA2410564924	ALG12	c.-23_-13delinsGTACGTGAAGC (n.-23_-13delinsGTACGTGAAGC)
22	g.49913785_49913794del	CA2410564925	ALG12	c.-23_-14del (n.-23_-14del)	dbSNP
22	g.49913780T>A	CA657883221	ALG12	c.-15A>T (n.-15A>T)	COSMIC
22	g.49913780T>C	CA325433663	ALG12	c.-15A>G (n.-15A>G)	dbSNP
22	g.49913780T>G	CA2657454961	ALG12	c.-15A>C (n.-15A>C)	gnomAD v4
22	g.49913780T=	CA2410564926	ALG12	c.-15A= (n.-15A=)
22	g.49913782C=	CA2410564927	ALG12	c.-17G= (n.-17G=)
22	g.49913782C>T	CA325433666	ALG12	c.-17G>A (n.-17G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913783A>G	CA2741724290	ALG12	c.-18T>C (n.-18T>C)
22	g.49913784C=	CA2410564928	ALG12	c.-19G= (n.-19G=)
22	g.49913784C>T	CA10300766	ALG12	c.-19G>A (n.-19G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913785G>A	CA10300767	ALG12	c.-20C>T (n.-20C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913785G=	CA2410564929	ALG12	c.-20C= (n.-20C=)
22	g.49913787A=	CA2410564930	ALG12	c.-22T= (n.-22T=)
22	g.49913787A>C	CA2410564931	ALG12	c.-22T>G (n.-22T>G)	dbSNP gnomAD v4
22	g.49913787A>T	CA2657454975	ALG12	c.-22T>A (n.-22T>A)	gnomAD v4
22	g.49913788C>A	CA2657454981	ALG12	c.-23G>T (n.-23G>T)	gnomAD v4
22	g.49913789C=	CA2410564932	ALG12	c.-24G= (n.-24G=)
22	g.49913789C>T	CA10300768	ALG12	c.-24G>A (n.-24G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913792C>A	CA10300769	ALG12	c.-27G>T (n.-27G>T)	dbSNP ExAC gnomAD v4
22	g.49913792C=	CA2410564933	ALG12	c.-27G= (n.-27G=)
22	g.49913794C>T	CA2657454989	ALG12	c.-29G>A (n.-29G>A)	gnomAD v4
22	g.49913796G=	CA2410564934	ALG12	c.-31C= (n.-31C=)
22	g.49913796G>T	CA10300770	ALG12	c.-31C>A (n.-31C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913797G>T	CA2657454992	ALG12	c.-32C>A (n.-32C>A)	gnomAD v4
22	g.49913800A>G	CA2577757023	ALG12	c.-35T>C (n.-35T>C)
22	g.49913803A>G	CA640352312	ALG12	c.-38T>C (n.-38T>C)	dbSNP gnomAD v2 gnomAD v4
22	g.49913803_49913804delinsAG	CA2410564935	ALG12	c.-39_-38delinsCT (n.-39_-38delinsCT)
22	g.49913804del	CA10300771	ALG12	c.-39del (n.-39del)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913804G>A	CA754008134	ALG12	c.-39C>T (n.-39C>T)	dbSNP gnomAD v4
22	g.49913804G=	CA2410564936	ALG12	c.-39C= (n.-39C=)
22	g.49913805T>C	CA2819295137	ALG12	c.-40A>G (n.-40A>G)
22	g.49913805T>G	CA2410564938	ALG12	c.-40A>C (n.-40A>C)	dbSNP gnomAD v4
22	g.49913805T=	CA2410564937	ALG12	c.-40A= (n.-40A=)
22	g.49913807C>A	CA10300773	ALG12	c.-42G>T (n.-42G>T)	dbSNP ExAC gnomAD v4
22	g.49913807C=	CA2410564939	ALG12	c.-42G= (n.-42G=)
22	g.49913807C>T	CA10300772	ALG12	c.-42G>A (n.-42G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913808G>A	CA10645708	ALG12	c.-43C>T (n.-43C>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913808G=	CA2410564940	ALG12	c.-43C= (n.-43C=)
22	g.49913810G>A	CA640352313	ALG12	c.-45C>T (n.-45C>T)	dbSNP gnomAD v2
22	g.49913810G>C	CA2657455045	ALG12	c.-45C>G (n.-45C>G)	gnomAD v4
22	g.49913810G=	CA2410564941	ALG12	c.-45C= (n.-45C=)
22	g.49913810G>T	CA10300774	ALG12	c.-45C>A (n.-45C>A)	dbSNP ExAC gnomAD v4
22	g.49913811A=	CA2410564942	ALG12	c.-46T= (n.-46T=)
22	g.49913811A>C	CA10300775	ALG12	c.-46T>G (n.-46T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
22	g.49913812C>A	CA2657455052	ALG12	c.-47G>T (n.-47G>T)	gnomAD v4
22	g.49913813A=	CA2410564943	ALG12	c.-48T= (n.-48T=)
22	g.49913813A>C	CA10300776	ALG12	c.-48T>G (n.-48T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913814C=	CA2410564944	ALG12	c.-49G= (n.-49G=)
22	g.49913814C>T	CA10300777	ALG12	c.-49G>A (n.-49G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913815C>A	CA2410564946	ALG12	c.-50G>T (n.-50G>T)	dbSNP gnomAD v4
22	g.49913815C=	CA2410564945	ALG12	c.-50G= (n.-50G=)
22	g.49913815C>T	CA2657455074	ALG12	c.-50G>A (n.-50G>A)	gnomAD v4
22	g.49913817G>A	CA2410564948	ALG12	c.-52C>T (n.-52C>T)	dbSNP gnomAD v4
22	g.49913817G=	CA2410564947	ALG12	c.-52C= (n.-52C=)
22	g.49913817G>T	CA2577757024	ALG12	c.-52C>A (n.-52C>A)
22	g.49913818C>G	CA2577757025	ALG12	c.-53G>C (n.-53G>C)	gnomAD v4
22	g.49913819C>A	CA2657455081	ALG12	c.-54G>T (n.-54G>T)	gnomAD v4
22	g.49913819C=	CA2410564949	ALG12	c.-54G= (n.-54G=)
22	g.49913819C>T	CA640352314	ALG12	c.-54G>A (n.-54G>A)	dbSNP gnomAD v2 gnomAD v4
22	g.49913820G>A	CA325433697	ALG12	c.-55C>T (n.-55C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22	g.49913820G=	CA2410564950	ALG12	c.-55C= (n.-55C=)
22	g.49913820G>T	CA2657455096	ALG12	c.-55C>A (n.-55C>A)	gnomAD v4
22	g.49913821T>C	CA2410564952	ALG12	c.-56A>G (n.-56A>G)	dbSNP
22	g.49913821T=	CA2410564951	ALG12	c.-56A= (n.-56A=)
22	g.49913822T>C	CA2657455099	ALG12	c.-57A>G (n.-57A>G)	gnomAD v4
22	g.49913823A=	CA2410564953	ALG12	c.-58T= (n.-58T=)
22	g.49913823A>G	CA754008162	ALG12	c.-58T>C (n.-58T>C)	dbSNP
22	g.49913823A>T	CA2819295143	ALG12	c.-58T>A (n.-58T>A)
22	g.49913824G>T	CA2657455101	ALG12	c.-59C>A (n.-59C>A)	gnomAD v4
22	g.49913826A>C	CA2657455102	ALG12	c.-61T>G (n.-61T>G)	gnomAD v4
22	g.49913827C>T	CA2657455103	ALG12	c.-62G>A (n.-62G>A)	gnomAD v4
22	g.49913828T>C	CA2657455106	ALG12	c.-63A>G (n.-63A>G)	gnomAD v4
22	g.49913829G>T	CA2657455109	ALG12	c.-64C>A (n.-64C>A)	gnomAD v4
22	g.49913830C>A	CA2577757026	ALG12	c.-65G>T (n.-65G>T)	gnomAD v4
22	g.49913831C>T	CA2657455111	ALG12	c.-66G>A (n.-66G>A)	gnomAD v4
22	g.49913832A>T	CA2657455115	ALG12	c.-67T>A (n.-67T>A)	gnomAD v4
22	g.49913833C=	CA2410564954	ALG12	c.-68G= (n.-68G=)
22	g.49913833C>T	CA325433702	ALG12	c.-68G>A (n.-68G>A)	dbSNP
22	g.49913834T>A	CA2410564956	ALG12	c.-69A>T (n.-69A>T)	dbSNP
22	g.49913834T>C	CA2657455118	ALG12	c.-69A>G (n.-69A>G)	gnomAD v4
22	g.49913834T=	CA2410564955	ALG12	c.-69A= (n.-69A=)

Number of alleles fetched