Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.135789492A>G	CA2661273508	LCT	c.5563+79T>C (n.5563+79T>C)	gnomAD v4
2	g.135789492A>T	CA2661273509	LCT	c.5563+79T>A (n.5563+79T>A)	gnomAD v4
2	g.135789493G>A	CA2661273511	LCT	c.5563+78C>T (n.5563+78C>T)	gnomAD v4
2	g.135789494A>G	CA2661273513	LCT	c.5563+77T>C (n.5563+77T>C)	gnomAD v4
2	g.135789494A>T	CA2661273512	LCT	c.5563+77T>A (n.5563+77T>A)	gnomAD v4
2	g.135789495A>T	CA2661273514	LCT	c.5563+76T>A (n.5563+76T>A)	gnomAD v4
2	g.135789496G>A	CA2752308177	LCT	c.5563+75C>T (n.5563+75C>T)
2	g.135789496G>T	CA2661273515	LCT	c.5563+75C>A (n.5563+75C>A)	gnomAD v4
2	g.135789497A=	CA1290822630	LCT	c.5563+74T= (n.5563+74T=)
2	g.135789497A>C	CA2581837660	LCT	c.5563+74T>G (n.5563+74T>G)
2	g.135789497A>G	CA56594877	LCT	c.5563+74T>C (n.5563+74T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.135789497A>T	CA1290822631	LCT	c.5563+74T>A (n.5563+74T>A)	dbSNP gnomAD v4
2	g.135789498A>C	CA2661273518	LCT	c.5563+73T>G (n.5563+73T>G)	gnomAD v4
2	g.135789501C>A	CA2661273520	LCT	c.5563+70G>T (n.5563+70G>T)	gnomAD v4
2	g.135789501C>T	CA2661273521	LCT	c.5563+70G>A (n.5563+70G>A)	gnomAD v4
2	g.135789502A=	CA1290822632	LCT	c.5563+69T= (n.5563+69T=)
2	g.135789502A>C	CA2661273523	LCT	c.5563+69T>G (n.5563+69T>G)	gnomAD v4
2	g.135789502A>G	CA56594880	LCT	c.5563+69T>C (n.5563+69T>C)	dbSNP gnomAD v4
2	g.135789503G>T	CA2661273528	LCT	c.5563+68C>A (n.5563+68C>A)	gnomAD v4
2	g.135789504A>G	CA2661273529	LCT	c.5563+67T>C (n.5563+67T>C)	gnomAD v4
2	g.135789504A>T	CA2661273530	LCT	c.5563+67T>A (n.5563+67T>A)	gnomAD v4
2	g.135789505C>A	CA2661273531	LCT	c.5563+66G>T (n.5563+66G>T)	gnomAD v4
2	g.135789505C=	CA1290822633	LCT	c.5563+66G= (n.5563+66G=)
2	g.135789505C>G	CA56594885	LCT	c.5563+66G>C (n.5563+66G>C)	dbSNP gnomAD v4
2	g.135789505C>T	CA536547389	LCT	c.5563+66G>A (n.5563+66G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.135789507G>A	CA2661273533	LCT	c.5563+64C>T (n.5563+64C>T)	gnomAD v4
2	g.135789507G>T	CA2577107628	LCT	c.5563+64C>A (n.5563+64C>A)	gnomAD v4
2	g.135789512_135789513del	CA2661273532	LCT	c.5563+63_5563+64del (n.5563+63_5563+64del)	gnomAD v4
2	g.135789510_135789513del	CA2661273534	LCT	c.5563+61_5563+64del (n.5563+61_5563+64del)	gnomAD v4
2	g.135789508A>G	CA2661273535	LCT	c.5563+63T>C (n.5563+63T>C)	gnomAD v4
2	g.135789509G>T	CA2661273536	LCT	c.5563+62C>A (n.5563+62C>A)	gnomAD v4
2	g.135789511G>A	CA1036793494	LCT	c.5563+60C>T (n.5563+60C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.135789511G=	CA1290822634	LCT	c.5563+60C= (n.5563+60C=)
2	g.135789511G>T	CA56594893	LCT	c.5563+60C>A (n.5563+60C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.135789512A=	CA1290822635	LCT	c.5563+59T= (n.5563+59T=)
2	g.135789512A>G	CA2661273537	LCT	c.5563+59T>C (n.5563+59T>C)	gnomAD v4
2	g.135789512A>T	CA56594907	LCT	c.5563+59T>A (n.5563+59T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.135789513G>A	CA2661273538	LCT	c.5563+58C>T (n.5563+58C>T)	gnomAD v4
2	g.135789513G>T	CA2577107629	LCT	c.5563+58C>A (n.5563+58C>A)	gnomAD v4
2	g.135789514G>A	CA2661273539	LCT	c.5563+57C>T (n.5563+57C>T)	gnomAD v4
2	g.135789514G>C	CA2661273540	LCT	c.5563+57C>G (n.5563+57C>G)	gnomAD v4
2	g.135789514G>T	CA2661273541	LCT	c.5563+57C>A (n.5563+57C>A)	gnomAD v4
2	g.135789515C>A	CA2661273542	LCT	c.5563+56G>T (n.5563+56G>T)	gnomAD v4
2	g.135789515C=	CA1290822636	LCT	c.5563+56G= (n.5563+56G=)
2	g.135789515C>G	CA1036793503	LCT	c.5563+56G>C (n.5563+56G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.135789515C>T	CA757454297	LCT	c.5563+56G>A (n.5563+56G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.135789517C=	CA1290822637	LCT	c.5563+54G= (n.5563+54G=)
2	g.135789517C>G	CA2577107630	LCT	c.5563+54G>C (n.5563+54G>C)
2	g.135789517C>T	CA56594908	LCT	c.5563+54G>A (n.5563+54G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.135789521C>A	CA2661273543	LCT	c.5563+50G>T (n.5563+50G>T)	gnomAD v4
2	g.135789521C=	CA1290822638	LCT	c.5563+50G= (n.5563+50G=)
2	g.135789521C>T	CA2577107631	LCT	c.5563+50G>A (n.5563+50G>A)
2	g.135789522dup	CA1887594	LCT	c.5563+49dup (n.5563+49dup)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.135789523C=	CA1290822639	LCT	c.5563+48G= (n.5563+48G=)
2	g.135789523C>T	CA536547390	LCT	c.5563+48G>A (n.5563+48G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.135789524C=	CA1290822640	LCT	c.5563+47G= (n.5563+47G=)
2	g.135789524C>G	CA1887595	LCT	c.5563+47G>C (n.5563+47G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.135789525T>A	CA2661273544	LCT	c.5563+46A>T (n.5563+46A>T)	gnomAD v4
2	g.135789526G>A	CA2661273545	LCT	c.5563+45C>T (n.5563+45C>T)	gnomAD v4
2	g.135789526G>T	CA2661273546	LCT	c.5563+45C>A (n.5563+45C>A)	gnomAD v4
2	g.135789527C>A	CA2661273547	LCT	c.5563+44G>T (n.5563+44G>T)	gnomAD v4
2	g.135789528C>G	CA2577107632	LCT	c.5563+43G>C (n.5563+43G>C)
2	g.135789529C>A	CA2661273548	LCT	c.5563+42G>T (n.5563+42G>T)	gnomAD v4
2	g.135789529C=	CA1290822641	LCT	c.5563+42G= (n.5563+42G=)
2	g.135789529C>G	CA1036793510	LCT	c.5563+42G>C (n.5563+42G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.135789529C>T	CA2661273549	LCT	c.5563+42G>A (n.5563+42G>A)	gnomAD v4
2	g.135789530T>C	CA2700693485	LCT	c.5563+41A>G (n.5563+41A>G)	dbSNP
2	g.135789534C=	CA1290822642	LCT	c.5563+37G= (n.5563+37G=)
2	g.135789534C>T	CA1290822643	LCT	c.5563+37G>A (n.5563+37G>A)	dbSNP gnomAD v4
2	g.135789535C=	CA1290822644	LCT	c.5563+36G= (n.5563+36G=)
2	g.135789535C>T	CA536547391	LCT	c.5563+36G>A (n.5563+36G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.135789536C>A	CA2577107633	LCT	c.5563+35G>T (n.5563+35G>T)
2	g.135789536C=	CA1290822645	LCT	c.5563+35G= (n.5563+35G=)
2	g.135789536C>G	CA1290822646	LCT	c.5563+35G>C (n.5563+35G>C)	dbSNP gnomAD v4
2	g.135789536C>T	CA2661273550	LCT	c.5563+35G>A (n.5563+35G>A)	gnomAD v4
2	g.135789538dup	CA1887596	LCT	c.5563+34dup (n.5563+34dup)	dbSNP ExAC gnomAD v2
2	g.135789540G>T	CA2661273551	LCT	c.5563+31C>A (n.5563+31C>A)	gnomAD v4
2	g.135789541G>T	CA2661273552	LCT	c.5563+30C>A (n.5563+30C>A)	gnomAD v4
2	g.135789542C>T	CA2661273553	LCT	c.5563+29G>A (n.5563+29G>A)	gnomAD v4
2	g.135789544T>C	CA536547392	LCT	c.5563+27A>G (n.5563+27A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.135789544T=	CA1290822647	LCT	c.5563+27A= (n.5563+27A=)
2	g.135789546_135789548del	CA2661273554	LCT	c.5563+25_5563+27del (n.5563+25_5563+27del)	gnomAD v4
2	g.135789545T>C	CA1036793511	LCT	c.5563+26A>G (n.5563+26A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.135789545T=	CA1290822648	LCT	c.5563+26A= (n.5563+26A=)
2	g.135789546A=	CA1290822649	LCT	c.5563+25T= (n.5563+25T=)
2	g.135789546A>G	CA1036793513	LCT	c.5563+25T>C (n.5563+25T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.135789548T>A	CA1887597	LCT	c.5563+23A>T (n.5563+23A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.135789548T>C	CA2661273555	LCT	c.5563+23A>G (n.5563+23A>G)	gnomAD v4
2	g.135789548T=	CA1290822650	LCT	c.5563+23A= (n.5563+23A=)
2	g.135789549C=	CA1290822651	LCT	c.5563+22G= (n.5563+22G=)
2	g.135789549C>G	CA536547393	LCT	c.5563+22G>C (n.5563+22G>C)	dbSNP gnomAD v2 gnomAD v4
2	g.135789549C>T	CA2661273556	LCT	c.5563+22G>A (n.5563+22G>A)	gnomAD v4
2	g.135789551C>A	CA2661273557	LCT	c.5563+20G>T (n.5563+20G>T)	gnomAD v4
2	g.135789551C=	CA1290822652	LCT	c.5563+20G= (n.5563+20G=)
2	g.135789551C>T	CA56594920	LCT	c.5563+20G>A (n.5563+20G>A)	dbSNP
2	g.135789552T>G	CA2577107634	LCT	c.5563+19A>C (n.5563+19A>C)
2	g.135789555C=	CA1290822653	LCT	c.5563+16G= (n.5563+16G=)
2	g.135789555C>G	CA2661273558	LCT	c.5563+16G>C (n.5563+16G>C)	gnomAD v4
2	g.135789555C>T	CA1290822654	LCT	c.5563+16G>A (n.5563+16G>A)	dbSNP
2	g.135789556_135789560del	CA2577107636	LCT	c.5563+12_5563+16del (n.5563+12_5563+16del)
2	g.135789556A>G	CA2577107637	LCT	c.5563+15T>C (n.5563+15T>C)
2	g.135789558A=	CA1290822655	LCT	c.5563+13T= (n.5563+13T=)
2	g.135789558A>G	CA1887598	LCT	c.5563+13T>C (n.5563+13T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.135789559G>A	CA2661273559	LCT	c.5563+12C>T (n.5563+12C>T)	gnomAD v4
2	g.135789559G>T	CA2661273560	LCT	c.5563+12C>A (n.5563+12C>A)	gnomAD v4
2	g.135789560C>A	CA2661273561	LCT	c.5563+11G>T (n.5563+11G>T)	gnomAD v4
2	g.135789561del	CA2577107639	LCT	c.5563+11del (n.5563+11del)
2	g.135789562A=	CA1290822656	LCT	c.5563+9T= (n.5563+9T=)
2	g.135789562A>T	CA1036793515	LCT	c.5563+9T>A (n.5563+9T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.135789564A=	CA1290822657	LCT	c.5563+7T= (n.5563+7T=)
2	g.135789564A>G	CA1139657216	LCT	c.5563+7T>C (n.5563+7T>C)	ClinVar dbSNP gnomAD v4
2	g.135789565T>A	CA1887599	LCT	c.5563+6A>T (n.5563+6A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.135789565T>C	CA2661273562	LCT	c.5563+6A>G (n.5563+6A>G)	gnomAD v4
2	g.135789565T=	CA1290822658	LCT	c.5563+6A= (n.5563+6A=)
2	g.135789567_135789568dup	CA2661273563	LCT	c.5563+5_5563+6dup (n.5563+5_5563+6dup)	gnomAD v4
2	g.135789568C>T	CA2661273564	LCT	c.5563+3G>A (n.5563+3G>A)	gnomAD v4
2	g.135789569A=	CA1290822659	LCT	c.5563+2T= (n.5563+2T=)
2	g.135789569A>C	CA348585816	LCT	c.5563+2T>G (n.5563+2T>G)	dbSNP
2	g.135789569A>G	CA348585814	LCT	c.5563+2T>C (n.5563+2T>C)
2	g.135789569A>T	CA348585812	LCT	c.5563+2T>A (n.5563+2T>A)
2	g.135789570C>A	CA348585818	LCT	c.5563+1G>T (n.5563+1G>T)
2	g.135789570C>G	CA348585821	LCT	c.5563+1G>C (n.5563+1G>C)
2	g.135789570C>T	CA348585823	LCT	c.5563+1G>A (n.5563+1G>A)
2	g.135789571C>A	CA348585827	LCT	c.5563G>T (p.Asp1855Tyr)
2	g.135789571C>G	CA348585829	LCT	c.5563G>C (p.Asp1855His)
2	g.135789571C>T	CA348585831	LCT	c.5563G>A (p.Asp1855Asn)
2	g.135789572T>A	CA429084926	LCT	c.5562A>T (p.Pro1854=)
2	g.135789572T>C	CA429084928	LCT	c.5562A>G (p.Pro1854=)	gnomAD v4
2	g.135789572T>G	CA429084927	LCT	c.5562A>C (p.Pro1854=)
2	g.135789573G>A	CA348585835	LCT	c.5561C>T (p.Pro1854Leu)
2	g.135789573G>C	CA348585837	LCT	c.5561C>G (p.Pro1854Arg)
2	g.135789573G>T	CA348585839	LCT	c.5561C>A (p.Pro1854Gln)
2	g.135789573_135789574delinsTT	CA645528830	LCT	c.5560_5561delinsAA (p.Pro1854Lys)	COSMIC
2	g.135789574G>A	CA348585842	LCT	c.5560C>T (p.Pro1854Ser)
2	g.135789574G>C	CA348585845	LCT	c.5560C>G (p.Pro1854Ala)
2	g.135789574G>T	CA348585847	LCT	c.5560C>A (p.Pro1854Thr)	gnomAD v4
2	g.135789575C>A	CA348585849	LCT	c.5559G>T (p.Gln1853His)
2	g.135789575C>G	CA348585852	LCT	c.5559G>C (p.Gln1853His)
2	g.135789575C>T	CA429084934	LCT	c.5559G>A (p.Gln1853=)	COSMIC
2	g.135789576T>A	CA348585860	LCT	c.5558A>T (p.Gln1853Leu)
2	g.135789576T>C	CA348585858	LCT	c.5558A>G (p.Gln1853Arg)
2	g.135789576T>G	CA348585855	LCT	c.5558A>C (p.Gln1853Pro)
2	g.135789577G>A	CA348585862	LCT	c.5557C>T (p.Gln1853Ter)	gnomAD v4
2	g.135789577G>C	CA348585865	LCT	c.5557C>G (p.Gln1853Glu)
2	g.135789577G>T	CA348585868	LCT	c.5557C>A (p.Gln1853Lys)
2	g.135789578G>A	CA429084938	LCT	c.5556C>T (p.His1852=)
2	g.135789578G>C	CA348585872	LCT	c.5556C>G (p.His1852Gln)
2	g.135789578G>T	CA348585874	LCT	c.5556C>A (p.His1852Gln)
2	g.135789579T>A	CA348585881	LCT	c.5555A>T (p.His1852Leu)
2	g.135789579T>C	CA348585879	LCT	c.5555A>G (p.His1852Arg)	dbSNP
2	g.135789579T>G	CA348585877	LCT	c.5555A>C (p.His1852Pro)	gnomAD v4
2	g.135789580G>A	CA348585885	LCT	c.5554C>T (p.His1852Tyr)	gnomAD v4
2	g.135789580G>C	CA348585887	LCT	c.5554C>G (p.His1852Asp)
2	g.135789580G>T	CA348585888	LCT	c.5554C>A (p.His1852Asn)
2	g.135789581G>A	CA429084947	LCT	c.5553C>T (p.Leu1851=)	gnomAD v4 COSMIC
2	g.135789581G>C	CA429084945	LCT	c.5553C>G (p.Leu1851=)
2	g.135789581G>T	CA429084946	LCT	c.5553C>A (p.Leu1851=)
2	g.135789582A>C	CA348585890	LCT	c.5552T>G (p.Leu1851Arg)
2	g.135789582A>G	CA348585893	LCT	c.5552T>C (p.Leu1851Pro)
2	g.135789582A>T	CA348585895	LCT	c.5552T>A (p.Leu1851His)
2	g.135789583G>A	CA348585899	LCT	c.5551C>T (p.Leu1851Phe)
2	g.135789583G>C	CA348585904	LCT	c.5551C>G (p.Leu1851Val)
2	g.135789583G>T	CA348585901	LCT	c.5551C>A (p.Leu1851Ile)
2	g.135789584A>C	CA348585907	LCT	c.5550T>G (p.Cys1850Trp)
2	g.135789584A>G	CA429084952	LCT	c.5550T>C (p.Cys1850=)
2	g.135789584A>T	CA348585910	LCT	c.5550T>A (p.Cys1850Ter)
2	g.135789585C>A	CA348585914	LCT	c.5549G>T (p.Cys1850Phe)
2	g.135789585C>G	CA348585916	LCT	c.5549G>C (p.Cys1850Ser)
2	g.135789585C>T	CA348585919	LCT	c.5549G>A (p.Cys1850Tyr)
2	g.135789586A>C	CA348585922	LCT	c.5548T>G (p.Cys1850Gly)
2	g.135789586A>G	CA348585925	LCT	c.5548T>C (p.Cys1850Arg)
2	g.135789586A>T	CA348585927	LCT	c.5548T>A (p.Cys1850Ser)
2	g.135789587A=	CA1290822660	LCT	c.5547T= (p.Ala1849=)
2	g.135789587A>C	CA429084959	LCT	c.5547T>G (p.Ala1849=)
2	g.135789587A>G	CA429084954	LCT	c.5547T>C (p.Ala1849=)	dbSNP
2	g.135789587A>T	CA429084957	LCT	c.5547T>A (p.Ala1849=)
2	g.135789588G>A	CA348585931	LCT	c.5546C>T (p.Ala1849Val)
2	g.135789588G>C	CA348585933	LCT	c.5546C>G (p.Ala1849Gly)
2	g.135789588G>T	CA348585936	LCT	c.5546C>A (p.Ala1849Asp)
2	g.135789589C>A	CA348585939	LCT	c.5545G>T (p.Ala1849Ser)
2	g.135789589C=	CA1290822661	LCT	c.5545G= (p.Ala1849=)
2	g.135789589C>G	CA348585944	LCT	c.5545G>C (p.Ala1849Pro)	gnomAD v4
2	g.135789589C>T	CA348585941	LCT	c.5545G>A (p.Ala1849Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.135789590G>A	CA1887600	LCT	c.5544C>T (p.His1848=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.135789590G>C	CA348585952	LCT	c.5544C>G (p.His1848Gln)
2	g.135789590G=	CA1290822662	LCT	c.5544C= (p.His1848=)
2	g.135789590G>T	CA348585949	LCT	c.5544C>A (p.His1848Gln)
2	g.135789591T>A	CA348585956	LCT	c.5543A>T (p.His1848Leu)
2	g.135789591T>C	CA348585958	LCT	c.5543A>G (p.His1848Arg)	dbSNP gnomAD v4
2	g.135789591T>G	CA348585960	LCT	c.5543A>C (p.His1848Pro)
2	g.135789591T=	CA1290822663	LCT	c.5543A= (p.His1848=)
2	g.135789592G>A	CA348585964	LCT	c.5542C>T (p.His1848Tyr)
2	g.135789592G>C	CA348585966	LCT	c.5542C>G (p.His1848Asp)
2	g.135789592G>T	CA348585968	LCT	c.5542C>A (p.His1848Asn)

Number of alleles fetched