Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.71686738T>G	CA2543762175	DYSF	c.4020T>G (n.4020T>G) c.246T>G (n.246T>G) n.3374T>G	gnomAD v4
2	g.71686740C>A	CA2659556728	DYSF	c.4022C>A (n.4022C>A) c.248C>A (n.248C>A) n.3376C>A	gnomAD v4
2	g.71686740C=	CA1260160483	DYSF	c.4022C= (n.4022C=) c.248C= (n.248C=) n.3376C=
2	g.71686740C>T	CA1260160484	DYSF	c.4022C>T (n.4022C>T) c.248C>T (n.248C>T) n.3376C>T	dbSNP
2	g.71686741A>G	CA2659556729	DYSF	c.4023A>G (n.4023A>G) c.249A>G (n.249A>G) n.3377A>G	gnomAD v4
2	g.71686742G>A	CA892681577	DYSF	c.4024G>A (n.4024G>A) c.250G>A (n.250G>A) n.3378G>A	dbSNP gnomAD v4
2	g.71686742G=	CA1260160485	DYSF	c.4024G= (n.4024G=) c.250G= (n.250G=) n.3378G=
2	g.71686742G>T	CA2659556730	DYSF	c.4024G>T (n.4024G>T) c.250G>T (n.250G>T) n.3378G>T	gnomAD v4
2	g.71686743T>C	CA1032080043	DYSF	c.4025T>C (n.4025T>C) c.251T>C (n.251T>C) n.3379T>C	dbSNP gnomAD v3 gnomAD v4
2	g.71686743T=	CA1260160486	DYSF	c.4025T= (n.4025T=) c.251T= (n.251T=) n.3379T=
2	g.71686744A=	CA1260160487	DYSF	c.4026A= (n.4026A=) c.252A= (n.252A=) n.3380A=
2	g.71686744A>G	CA892681581	DYSF	c.4026A>G (n.4026A>G) c.252A>G (n.252A>G) n.3380A>G	dbSNP gnomAD v3 gnomAD v4
2	g.71686745_71686746insG	CA646921791	DYSF	c.4027_4028insG (n.4027_4028insG) c.253_254insG (n.253_254insG) n.3381_3382insG	COSMIC
2	g.71686747A=	CA1260160488	DYSF	c.4029A= (n.4029A=) c.255A= (n.255A=) n.3383A=
2	g.71686747A>G	CA1260160489	DYSF	c.4029A>G (n.4029A>G) c.255A>G (n.255A>G) n.3383A>G	dbSNP gnomAD v4
2	g.71686749A>G	CA2659556731	DYSF	c.4031A>G (n.4031A>G) c.257A>G (n.257A>G) n.3385A>G	gnomAD v4
2	g.71686750C>T	CA2659556732	DYSF	c.4032C>T (n.4032C>T) c.258C>T (n.258C>T) n.3386C>T	gnomAD v4
2	g.71686751A>G	CA2699654306	DYSF	c.259A>G (n.259A>G) n.3387A>G	dbSNP
2	g.71686752G>A	CA533267598	DYSF	c.260G>A (n.260G>A) n.3388G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686752G=	CA1260160490	DYSF	c.260G= (n.260G=) n.3388G=
2	g.71686753T>A	CA49779949	DYSF	c.261T>A (n.261T>A) n.3389T>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686753T>G	CA892681583	DYSF	c.261T>G (n.261T>G) n.3389T>G	dbSNP gnomAD v3 gnomAD v4
2	g.71686753T=	CA1260160491	DYSF	c.261T= (n.261T=) n.3389T=
2	g.71686755G=	CA1260160492	DYSF	c.263G= (n.263G=) n.3391G=
2	g.71686755G>T	CA1260160493	DYSF	c.263G>T (n.263G>T) n.3391G>T	dbSNP gnomAD v4
2	g.71686756G>A	CA49779950	DYSF	c.264G>A (n.264G>A) n.3392G>A	dbSNP
2	g.71686756G>C	CA2659556733	DYSF	c.264G>C (n.264G>C) n.3392G>C	gnomAD v4
2	g.71686756G=	CA1260160494	DYSF	c.264G= (n.264G=) n.3392G=
2	g.71686756G>T	CA2659556734	DYSF	c.264G>T (n.264G>T) n.3392G>T	gnomAD v4
2	g.71686757A>G	CA2659556735	DYSF	c.265A>G (n.265A>G) n.3393A>G	gnomAD v4
2	g.71686759C>A	CA2659556736	DYSF	c.267C>A (n.267C>A) n.3395C>A	gnomAD v4
2	g.71686759C=	CA1260160495	DYSF	c.267C= (n.267C=) n.3395C=
2	g.71686759C>G	CA10613918	DYSF	c.267C>G (n.267C>G) n.3395C>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686760C>A	CA2659556737	DYSF	c.268C>A (n.268C>A) n.3396C>A	gnomAD v4
2	g.71686761A=	CA1260160496	DYSF	c.269A= (n.269A=) n.3397A=
2	g.71686761A>C	CA2659556738	DYSF	c.269A>C (n.269A>C) n.3397A>C	gnomAD v4
2	g.71686761A>G	CA49779953	DYSF	c.269A>G (n.269A>G) n.3397A>G	dbSNP gnomAD v4
2	g.71686761A>T	CA2659556739	DYSF	c.269A>T (n.269A>T) n.3397A>T	gnomAD v4
2	g.71686762C>A	CA2659556740	DYSF	c.270C>A (n.270C>A) n.3398C>A	gnomAD v4
2	g.71686762C>T	CA2659556741	DYSF	c.270C>T (n.270C>T) n.3398C>T	gnomAD v4
2	g.71686763A>C	CA2659556742	DYSF	c.271A>C (n.271A>C) n.3399A>C	gnomAD v4
2	g.71686764C>T	CA2659556743	DYSF	c.272C>T (n.272C>T)	gnomAD v4
2	g.71686766G>A	CA2659556744	DYSF	c.274G>A (n.274G>A)	gnomAD v4
2	g.71686766G>T	CA2659556745	DYSF	c.274G>T (n.274G>T)	gnomAD v4
2	g.71686767C>A	CA2659556746	DYSF	c.275C>A (n.275C>A)	gnomAD v4
2	g.71686767C>T	CA2659556747	DYSF	c.275C>T (n.275C>T)	gnomAD v4
2	g.71686768A=	CA1260160497	DYSF	c.276A= (n.276A=)
2	g.71686768A>G	CA49779957	DYSF	c.276A>G (n.276A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.71686769G>A	CA2659556749			gnomAD v4
2	g.71686769G>T	CA2659556748			gnomAD v4
2	g.71686772T>C	CA2659556750			gnomAD v4
2	g.71686773C>A	CA2659556751			gnomAD v4
2	g.71686774A=	CA1260160498
2	g.71686774A>C	CA1260160499			dbSNP gnomAD v4
2	g.71686774A>G	CA2659556752			gnomAD v4
2	g.71686774A>T	CA2750418112
2	g.71686775G>C	CA2750418114
2	g.71686776T>A	CA2659556753			gnomAD v4
2	g.71686776T>C	CA49779960			dbSNP
2	g.71686776T=	CA1260160500
2	g.71686777G>T	CA2659556754			gnomAD v4
2	g.71686779G>A	CA49779969			dbSNP
2	g.71686779G=	CA1260160501
2	g.71686781G=	CA1260160502
2	g.71686782dup	CA1260160503			dbSNP gnomAD v3 gnomAD v4
2	g.71686783A>G	CA2659556755			gnomAD v4
2	g.71686784T>C	CA2659556756			gnomAD v4
2	g.71686785C>A	CA49779974			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686785C=	CA1260160504
2	g.71686785C>T	CA892681597			dbSNP gnomAD v3 gnomAD v4
2	g.71686786T>C	CA2659556757			gnomAD v4
2	g.71686787C=	CA1260160505
2	g.71686787C>G	CA49779978			dbSNP gnomAD v4
2	g.71686787C>T	CA2659556758			gnomAD v4
2	g.71686789A=	CA1260160506
2	g.71686789A>G	CA892681602			dbSNP gnomAD v4
2	g.71686790C=	CA1260160507
2	g.71686790C>T	CA533267599			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686791A=	CA1260160508
2	g.71686791A>G	CA2659556759			gnomAD v4
2	g.71686791A>T	CA1032080053			dbSNP gnomAD v3 gnomAD v4
2	g.71686792G>T	CA2659556760			gnomAD v4
2	g.71686793T>G	CA2750418122
2	g.71686794A>C	CA1032080057			gnomAD v3 gnomAD v4
2	g.71686795C>A	CA2659556761			gnomAD v4
2	g.71686795C=	CA1260160509
2	g.71686795C>T	CA892681607			dbSNP gnomAD v3 gnomAD v4
2	g.71686796C>T	CA2659556762			gnomAD v4
2	g.71686797T>C	CA2659556763			gnomAD v4
2	g.71686797T>G	CA2659556764			gnomAD v4
2	g.71686798G>A	CA2659556765			gnomAD v4
2	g.71686798G>C	CA2659556766			gnomAD v4
2	g.71686798G>T	CA2659556767			gnomAD v4
2	g.71686800A>C	CA2659556768			gnomAD v4
2	g.71686801C>A	CA2659556769			gnomAD v4
2	g.71686802A>G	CA2659556770			gnomAD v4
2	g.71686802A>T	CA2659556771			gnomAD v4
2	g.71686803G>A	CA1032080060			dbSNP gnomAD v3 gnomAD v4
2	g.71686803G=	CA1260160510
2	g.71686804G=	CA1260160511
2	g.71686804G>T	CA49779981			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686805G>A	CA914419916			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686805G=	CA1260160512
2	g.71686805G>T	CA2659556772			gnomAD v4
2	g.71686806A=	CA1260160513
2	g.71686806A>C	CA533267602			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686806A>G	CA2659556774			gnomAD v4
2	g.71686806A>T	CA2659556773			dbSNP gnomAD v4
2	g.71686806_71686817del	CA2750418129
2	g.71686807G>T	CA2659556775			gnomAD v4
2	g.71686808T>G	CA1032080073			gnomAD v3 gnomAD v4
2	g.71686809G>A	CA2659556776			gnomAD v4
2	g.71686809G>T	CA2659556777			gnomAD v4
2	g.71686810A>C	CA2539470356			gnomAD v4
2	g.71686810A>G	CA2659556778			gnomAD v4
2	g.71686811C>A	CA1032080074			dbSNP gnomAD v3 gnomAD v4
2	g.71686811C=	CA1260160514
2	g.71686811C>G	CA2659556779			gnomAD v4
2	g.71686811C>T	CA2659556780			gnomAD v4
2	g.71686812T>G	CA2659556782			gnomAD v4
2	g.71686814_71686815del	CA2659556781			gnomAD v4
2	g.71686813G>A	CA2659556783			gnomAD v4
2	g.71686813G>C	CA2659556784			gnomAD v4
2	g.71686813G>T	CA2659556785			gnomAD v4
2	g.71686814T>C	CA1260160516			dbSNP
2	g.71686814T>G	CA2659556786			gnomAD v4
2	g.71686814T=	CA1260160515
2	g.71686815G>A	CA2659556787			gnomAD v4
2	g.71686815G>C	CA2659556788			gnomAD v4
2	g.71686815G>T	CA2659556789			gnomAD v4
2	g.71686816A>G	CA2659556790			gnomAD v4
2	g.71686816A>T	CA2659556791			gnomAD v4
2	g.71686817A=	CA1260160517
2	g.71686817A>G	CA1032080075			dbSNP gnomAD v3 gnomAD v4
2	g.71686817A>T	CA2659556792			gnomAD v4
2	g.71686822dup	CA2659556793			gnomAD v4
2	g.71686819G>T	CA2659556794			gnomAD v4
2	g.71686820G>A	CA892681611			dbSNP
2	g.71686820G=	CA1260160518
2	g.71686820G>T	CA2659556795			gnomAD v4
2	g.71686822G>A	CA2659556796			gnomAD v4
2	g.71686822G>C	CA2750418134
2	g.71686822G>T	CA2659556797			gnomAD v4
2	g.71686823A>C	CA2659556799			gnomAD v4
2	g.71686823A>G	CA2659556800			gnomAD v4
2	g.71686823A>T	CA2659556801			gnomAD v4
2	g.71686823_71686830del	CA2659556798			gnomAD v4
2	g.71686824T>A	CA2659556803			gnomAD v4
2	g.71686824T>G	CA2659556802			gnomAD v4
2	g.71686825A=	CA1260160519
2	g.71686825A>C	CA2659556804			gnomAD v4
2	g.71686825A>G	CA533267603			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686825A>T	CA2659556805			gnomAD v4
2	g.71686826del	CA2659556806			gnomAD v4
2	g.71686826T>C	CA2750418138
2	g.71686826T>G	CA1032080077			gnomAD v3 gnomAD v4
2	g.71686827del	CA2659556807			gnomAD v4
2	g.71686827G>C	CA2659556808			gnomAD v4
2	g.71686827G>T	CA2659556809			gnomAD v4
2	g.71686828C=	CA1260160520
2	g.71686828C>G	CA2659556810			gnomAD v4
2	g.71686828C>T	CA892681621			dbSNP gnomAD v3 gnomAD v4
2	g.71686829del	CA2750418140
2	g.71686829C>A	CA2659556811			gnomAD v4
2	g.71686829C=	CA1260160521
2	g.71686829C>G	CA1032080079			dbSNP gnomAD v3 gnomAD v4
2	g.71686829C>T	CA1032080086			gnomAD v3 gnomAD v4
2	g.71686829_71686830insG	CA1032080089			gnomAD v3 gnomAD v4
2	g.71686829_71686830insGGGG	CA2659556813			gnomAD v4
2	g.71686830del	CA2659556812			gnomAD v4
2	g.71686830T>G	CA892681623			dbSNP gnomAD v3 gnomAD v4
2	g.71686830T=	CA1260160522
2	g.71686831G>A	CA2659556815			gnomAD v4
2	g.71686831G>T	CA2659556816			gnomAD v4
2	g.71686831_71686833del	CA2750418142
2	g.71686833dup	CA1032080094			gnomAD v3 gnomAD v4
2	g.71686837_71686849del	CA2659556814			gnomAD v4
2	g.71686832G=	CA1260160523
2	g.71686832G>T	CA1260160524			dbSNP gnomAD v4
2	g.71686833G>T	CA2659556817			gnomAD v4
2	g.71686834del	CA2659556818			gnomAD v4
2	g.71686834T>A	CA2659556820			gnomAD v4
2	g.71686834T>G	CA533267604			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686834T=	CA1260160525
2	g.71686834_71686838del	CA2659556819			gnomAD v4
2	g.71686835G>A	CA1260160527			dbSNP gnomAD v4
2	g.71686835G=	CA1260160526
2	g.71686835G>T	CA2750418145
2	g.71686837_71686838insGGGG	CA1032080096			gnomAD v3 gnomAD v4
2	g.71686837_71686838insGGGGG	CA1032080097			gnomAD v3 gnomAD v4
2	g.71686837_71686838insGGGGGGG	CA2659556821			gnomAD v4
2	g.71686837dup	CA2509553093			gnomAD v4
2	g.71686835_71686837dup	CA1032080095			gnomAD v3 gnomAD v4
2	g.71686836G>T	CA2659556822			gnomAD v4
2	g.71686837G>A	CA2659556823			gnomAD v4
2	g.71686837G>C	CA2659556824			gnomAD v4
2	g.71686837G>T	CA2659556825			gnomAD v4
2	g.71686838del	CA2659556826			gnomAD v4
2	g.71686838C>A	CA2659556828			gnomAD v4
2	g.71686838C=	CA1260160528
2	g.71686838C>G	CA533267605			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686838C>T	CA533267606			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.71686843_71686855del	CA2659556827			gnomAD v4

Number of alleles fetched