Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.165318999_165319031delinsTCACACACACACACACACACACACACACACACA	CA1204368260	LMX1A	c.263+34045_263+34077delinsTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA (n.263+34045_263+34077delinsTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGA)
1	g.165319000_165319042delinsCACACACACACACACACACACACACACACACACACACACACAC	CA1140579759	LMX1A	c.263+34034_263+34076delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG (n.263+34034_263+34076delinsGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG)
1	g.165319041_165319042dup	CA526927332	LMX1A	c.263+34075_263+34076dup (n.263+34075_263+34076dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319039_165319042dup	CA890570128	LMX1A	c.263+34073_263+34076dup (n.263+34073_263+34076dup)	dbSNP gnomAD v3 gnomAD v4
1	g.165319037_165319042dup	CA526927334	LMX1A	c.263+34071_263+34076dup (n.263+34071_263+34076dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319035_165319042dup	CA890570121	LMX1A	c.263+34069_263+34076dup (n.263+34069_263+34076dup)	dbSNP gnomAD v3 gnomAD v4
1	g.165319033_165319042dup	CA890570118	LMX1A	c.263+34067_263+34076dup (n.263+34067_263+34076dup)	dbSNP gnomAD v3 gnomAD v4
1	g.165319031_165319042dup	CA890570115	LMX1A	c.263+34065_263+34076dup (n.263+34065_263+34076dup)	dbSNP gnomAD v3 gnomAD v4
1	g.165319029_165319042dup	CA1204368264	LMX1A	c.263+34063_263+34076dup (n.263+34063_263+34076dup)	dbSNP
1	g.165319041_165319042del	CA526927331	LMX1A	c.263+34075_263+34076del (n.263+34075_263+34076del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319039_165319042del	CA31864760	LMX1A	c.263+34073_263+34076del (n.263+34073_263+34076del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319037_165319042del	CA526927328	LMX1A	c.263+34071_263+34076del (n.263+34071_263+34076del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319035_165319042del	CA890570087	LMX1A	c.263+34069_263+34076del (n.263+34069_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319033_165319042del	CA890570086	LMX1A	c.263+34067_263+34076del (n.263+34067_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319031_165319042del	CA890570045	LMX1A	c.263+34065_263+34076del (n.263+34065_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319029_165319042del	CA890570083	LMX1A	c.263+34063_263+34076del (n.263+34063_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319027_165319042del	CA890570080	LMX1A	c.263+34061_263+34076del (n.263+34061_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319025_165319042del	CA526927327	LMX1A	c.263+34059_263+34076del (n.263+34059_263+34076del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319023_165319042del	CA1008678763	LMX1A	c.263+34057_263+34076del (n.263+34057_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319019_165319042del	CA1204368263	LMX1A	c.263+34053_263+34076del (n.263+34053_263+34076del)	dbSNP
1	g.165319015_165319042del	CA890570041	LMX1A	c.263+34049_263+34076del (n.263+34049_263+34076del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319011_165319042del	CA1204368262	LMX1A	c.263+34045_263+34076del (n.263+34045_263+34076del)	dbSNP
1	g.165319017_165319043delinsACACACACACACACACACACACACACC	CA1204368283	LMX1A	c.263+34033_263+34059delinsGGTGTGTGTGTGTGTGTGTGTGTGTGT (n.263+34033_263+34059delinsGGTGTGTGTGTGTGTGTGTGTGTGTGT)
1	g.165319019_165319044del	CA526927346	LMX1A	c.263+34033_263+34058del (n.263+34033_263+34058del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319019_165319043delinsACACACACACACACACACACACACC	CA1204368286	LMX1A	c.263+34033_263+34057delinsGGTGTGTGTGTGTGTGTGTGTGTGT (n.263+34033_263+34057delinsGGTGTGTGTGTGTGTGTGTGTGTGT)
1	g.165319020C=	CA1204368288	LMX1A	c.263+34056G= (n.263+34056G=)
1	g.165319020C>G	CA890570160	LMX1A	c.263+34056G>C (n.263+34056G>C)	dbSNP
1	g.165319020C>T	CA1204368289	LMX1A	c.263+34056G>A (n.263+34056G>A)	dbSNP
1	g.165319021_165319044del	CA890570162	LMX1A	c.263+34033_263+34056del (n.263+34033_263+34056del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319021A=	CA1204368291	LMX1A	c.263+34055T= (n.263+34055T=)
1	g.165319021A>T	CA1204368292	LMX1A	c.263+34055T>A (n.263+34055T>A)	dbSNP
1	g.165319021_165319043delinsACACACACACACACACACACACC	CA1204368290	LMX1A	c.263+34033_263+34055delinsGGTGTGTGTGTGTGTGTGTGTGT (n.263+34033_263+34055delinsGGTGTGTGTGTGTGTGTGTGTGT)
1	g.165319022C=	CA1204368293	LMX1A	c.263+34054G= (n.263+34054G=)
1	g.165319022C>G	CA2560649676	LMX1A	c.263+34054G>C (n.263+34054G>C)
1	g.165319023_165319044del	CA890570163	LMX1A	c.263+34033_263+34054del (n.263+34033_263+34054del)	dbSNP
1	g.165319023A=	CA1204368295	LMX1A	c.263+34053T= (n.263+34053T=)
1	g.165319023A>G	CA890570169	LMX1A	c.263+34053T>C (n.263+34053T>C)	dbSNP gnomAD v3 gnomAD v4
1	g.165319023_165319024insTA	CA890570174	LMX1A	c.263+34053_263+34054insAT (n.263+34053_263+34054insAT)	dbSNP gnomAD v3 gnomAD v4
1	g.165319023_165319043delinsACACACACACACACACACACC	CA1204368294	LMX1A	c.263+34033_263+34053delinsGGTGTGTGTGTGTGTGTGTGT (n.263+34033_263+34053delinsGGTGTGTGTGTGTGTGTGTGT)
1	g.165319025_165319044del	CA1008678847	LMX1A	c.263+34033_263+34052del (n.263+34033_263+34052del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319025_165319043delinsACACACACACACACACACC	CA1204368296	LMX1A	c.263+34033_263+34051delinsGGTGTGTGTGTGTGTGTGT (n.263+34033_263+34051delinsGGTGTGTGTGTGTGTGTGT)
1	g.165319026C>A	CA1204368298	LMX1A	c.263+34050G>T (n.263+34050G>T)	dbSNP
1	g.165319026C=	CA1204368297	LMX1A	c.263+34050G= (n.263+34050G=)
1	g.165319027_165319044del	CA890570177	LMX1A	c.263+34033_263+34050del (n.263+34033_263+34050del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319027_165319043delinsACACACACACACACACC	CA1204368299	LMX1A	c.263+34033_263+34049delinsGGTGTGTGTGTGTGTGT (n.263+34033_263+34049delinsGGTGTGTGTGTGTGTGT)
1	g.165319028C=	CA1204368300	LMX1A	c.263+34048G= (n.263+34048G=)
1	g.165319028C>G	CA526927348	LMX1A	c.263+34048G>C (n.263+34048G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.165319028C>T	CA1204368301	LMX1A	c.263+34048G>A (n.263+34048G>A)	dbSNP
1	g.165319029_165319044del	CA890570179	LMX1A	c.263+34033_263+34048del (n.263+34033_263+34048del)	dbSNP gnomAD v3 gnomAD v4
1	g.165319029A=	CA1204368303	LMX1A	c.263+34047T= (n.263+34047T=)

Number of alleles fetched