Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.43140347_43140363dup	CA581633124			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140344_43140370delinsGCCCGCGGCTCCCGGGCGCCTCCGCCT	CA1779749516
8	g.43140352_43140377del	CA1779749517			dbSNP gnomAD v4
8	g.43140348_43140364dup	CA581633126			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140356del	CA2687149611			gnomAD v4
8	g.43140355C>A	CA2687149614			gnomAD v4
8	g.43140355C=	CA1779749528
8	g.43140355C>T	CA851967137			dbSNP gnomAD v3 gnomAD v4
8	g.43140356C>A	CA2687149615			gnomAD v4
8	g.43140356C=	CA1779749529
8	g.43140356C>T	CA1113270012			dbSNP gnomAD v3 gnomAD v4
8	g.43140357G>A	CA1779749531			dbSNP gnomAD v4
8	g.43140357G=	CA1779749530
8	g.43140357G>T	CA2687149616			gnomAD v4
8	g.43140358G>A	CA851967141			dbSNP gnomAD v4
8	g.43140358G>C	CA2687149617			gnomAD v4
8	g.43140358G=	CA1779749532
8	g.43140359G>A	CA1113270017			dbSNP gnomAD v3 gnomAD v4
8	g.43140359G=	CA1779749533
8	g.43140360C>A	CA2687149618			gnomAD v4
8	g.43140360C>T	CA2687149619			gnomAD v4
8	g.43140361G>A	CA2687149620			gnomAD v4
8	g.43140361G>T	CA2687149621			gnomAD v4
8	g.43140361_43140362insAGC	CA2687149622			gnomAD v4
8	g.43140362C>A	CA2687149623			gnomAD v4
8	g.43140362C>T	CA2687149624			gnomAD v4
8	g.43140363C>A	CA2687149625			gnomAD v4
8	g.43140363C=	CA1779749534
8	g.43140363C>G	CA2717068832			dbSNP
8	g.43140363C>T	CA581633129			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140364T>C	CA2687149626			gnomAD v4
8	g.43140365C>A	CA2687149627			gnomAD v4
8	g.43140365C=	CA1779749535
8	g.43140365C>T	CA851967146			dbSNP gnomAD v3 gnomAD v4
8	g.43140366C=	CA1779749536
8	g.43140366C>T	CA851967162			dbSNP gnomAD v3 gnomAD v4
8	g.43140367G>A	CA2687149628			gnomAD v4
8	g.43140368C>A	CA2687149629			gnomAD v4
8	g.43140368C>T	CA2687149630			gnomAD v4
8	g.43140369C>A	CA2687149631			gnomAD v4
8	g.43140369C>G	CA2779904792
8	g.43140369C>T	CA2779904793
8	g.43140370T>A	CA2687149632			gnomAD v4
8	g.43140370T>C	CA2687149633			gnomAD v4
8	g.43140372C=	CA1779749537
8	g.43140372C>T	CA1779749538			dbSNP gnomAD v4
8	g.43140373C>A	CA2687149634			gnomAD v4
8	g.43140373C=	CA1779749539
8	g.43140373C>G	CA2687149635			gnomAD v4
8	g.43140373C>T	CA1779749540			dbSNP gnomAD v4
8	g.43140374G>A	CA2717056065			dbSNP
8	g.43140374G=	CA1779749541
8	g.43140374G>T	CA581633131			dbSNP gnomAD v2 gnomAD v4
8	g.43140396_43140397insTCAGGCGGCGGTGACTCAGGCGGCGGTGAC	CA581633130			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140382_43140396dup	CA176095707			ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140375C>A	CA2687149636			gnomAD v4
8	g.43140375C>T	CA2687149637			gnomAD v4
8	g.43140376G>A	CA1113270028			dbSNP gnomAD v3 gnomAD v4
8	g.43140376G=	CA1779749542
8	g.43140376G>T	CA2687149638			gnomAD v4
8	g.43140377G>A	CA2687149640			gnomAD v4
8	g.43140377G>T	CA2687149639			gnomAD v4
8	g.43140379G>T	CA2687149641			gnomAD v4
8	g.43140380A>G	CA2687149642			gnomAD v4
8	g.43140380A>T	CA2687149643			gnomAD v4
8	g.43140381C>A	CA2687149644			gnomAD v4
8	g.43140381C>T	CA2687149645			gnomAD v4
8	g.43140382T>A	CA2687149646			gnomAD v4
8	g.43140382T>C	CA176095720			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140382T=	CA1779749543
8	g.43140383C>A	CA2687149647			gnomAD v4
8	g.43140383C=	CA1779749544
8	g.43140383C>G	CA2504123672
8	g.43140383C>T	CA851967178			dbSNP gnomAD v3 gnomAD v4
8	g.43140384A>G	CA2687149648			gnomAD v4
8	g.43140384A>T	CA2687149649			gnomAD v4
8	g.43140385G>A	CA1779749546			dbSNP gnomAD v4
8	g.43140385G=	CA1779749545
8	g.43140386G>A	CA1779749548			dbSNP gnomAD v4
8	g.43140386G=	CA1779749547
8	g.43140387C>A	CA2687149651			gnomAD v4
8	g.43140387C>T	CA2687149650			gnomAD v4
8	g.43140388G>A	CA851967186			dbSNP gnomAD v3 gnomAD v4
8	g.43140388G=	CA1779749549
8	g.43140388G>T	CA2687149653			gnomAD v4
8	g.43140388_43140389del	CA2687149652			gnomAD v4
8	g.43140392_43140412dup	CA2687149654			gnomAD v4
8	g.43140389G>A	CA2687149655			gnomAD v4
8	g.43140389G>C	CA2687149656			gnomAD v4
8	g.43140389G>T	CA2687149657			gnomAD v4
8	g.43140390C>A	CA2687149658			gnomAD v4
8	g.43140390C=	CA1779749550
8	g.43140390C>T	CA1113270032			dbSNP gnomAD v3 gnomAD v4
8	g.43140391G>A	CA1779749552			dbSNP gnomAD v4
8	g.43140391G=	CA1779749551
8	g.43140391G>T	CA2687149659			gnomAD v4
8	g.43140392G>A	CA2687149660			gnomAD v4
8	g.43140392G>T	CA2687149661			gnomAD v4
8	g.43140392_43140413delinsGTGACGGCAGCGGAGGGGGCGA	CA1779749553
8	g.43140393T>C	CA2687149662			gnomAD v4
8	g.43140399_43140419del	CA581633133			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140394G>A	CA176095725			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140394G=	CA1779749554
8	g.43140394G>T	CA2687149663			gnomAD v4
8	g.43140395A>G	CA2687149664			gnomAD v4
8	g.43140396C>A	CA2687149666			gnomAD v4
8	g.43140396C=	CA1779749555
8	g.43140396C>G	CA176095726			dbSNP gnomAD v3 gnomAD v4
8	g.43140396C>T	CA2687149665			gnomAD v4
8	g.43140396_43140397insTCA	CA2687149667			gnomAD v4
8	g.43140397G>A	CA2579158830			gnomAD v4
8	g.43140397G>C	CA1779749557			dbSNP gnomAD v4
8	g.43140397G=	CA1779749556
8	g.43140397G>T	CA851967192			dbSNP gnomAD v4
8	g.43140398G>A	CA2579158831			gnomAD v4
8	g.43140398G>T	CA2687149668			gnomAD v4
8	g.43140399C>A	CA2687149669			gnomAD v4
8	g.43140399C=	CA1779749558
8	g.43140399C>G	CA1779749559			dbSNP gnomAD v4
8	g.43140399C>T	CA2687149670			gnomAD v4
8	g.43140400A>C	CA2687149671			gnomAD v4
8	g.43140400A>G	CA2687149672			gnomAD v4
8	g.43140400A>T	CA2687149673			gnomAD v4
8	g.43140400_43140420dup	CA1779749560			dbSNP
8	g.43140400_43140423delinsAGCGGAGGGGGCGATGACGGGCGC	CA1779749561
8	g.43140401G>A	CA2579158832			gnomAD v4
8	g.43140401G>C	CA176095728			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140401G=	CA1779749563
8	g.43140401G>T	CA2687149674			gnomAD v4
8	g.43140405_43140427del	CA1779749562			dbSNP
8	g.43140402C>A	CA2579158833			gnomAD v4
8	g.43140402C>G	CA2687149675			gnomAD v4
8	g.43140402C>T	CA2579158834			gnomAD v4
8	g.43140403G>A	CA581633137			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140403G=	CA1779749564
8	g.43140403G>T	CA2687149676			gnomAD v4
8	g.43140404G>A	CA851967205			dbSNP gnomAD v3 gnomAD v4
8	g.43140404G=	CA1779749565
8	g.43140404G>T	CA2687149677			gnomAD v4
8	g.43140405A>G	CA2687149678			gnomAD v4
8	g.43140406G>A	CA1779749567			dbSNP gnomAD v4
8	g.43140406G=	CA1779749566
8	g.43140406G>T	CA2687149680			gnomAD v4
8	g.43140410del	CA2687149679			gnomAD v4
8	g.43140407G>A	CA1779749569			dbSNP
8	g.43140407G>C	CA581633138			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140407G=	CA1779749568
8	g.43140407G>T	CA2579158835			gnomAD v4
8	g.43140408G>A	CA1779749570			dbSNP gnomAD v4
8	g.43140408G>C	CA1113270042			dbSNP gnomAD v3 gnomAD v4
8	g.43140408G=	CA1779749571
8	g.43140408G>T	CA2687149681			gnomAD v4
8	g.43140409G>A	CA851967211			dbSNP gnomAD v3 gnomAD v4
8	g.43140409G>C	CA2687149682			gnomAD v4
8	g.43140409G=	CA1779749572
8	g.43140409G>T	CA2687149683			gnomAD v4
8	g.43140410G>C	CA176095732			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140410G=	CA1779749573
8	g.43140410G>T	CA2579158836			gnomAD v4
8	g.43140413_43140424dup	CA2687149684			gnomAD v4
8	g.43140411C>A	CA2687149685			gnomAD v4
8	g.43140411C=	CA1779749574
8	g.43140411C>G	CA2687149686			gnomAD v4
8	g.43140411C>T	CA1113270057			dbSNP gnomAD v3 gnomAD v4
8	g.43140412G>A	CA2579158837			gnomAD v4
8	g.43140412G>T	CA2687149687			gnomAD v4
8	g.43140413A=	CA1779749575
8	g.43140413A>C	CA2739984272
8	g.43140413A>G	CA176095740			dbSNP gnomAD v3 gnomAD v4
8	g.43140413A>T	CA2739984273
8	g.43140414T>A	CA2739984275
8	g.43140414T>C	CA2579158838
8	g.43140414T>G	CA2739984274
8	g.43140415G>A	CA2739984276
8	g.43140415G>C	CA2739984277
8	g.43140415G>T	CA2739984278
8	g.43140416A=	CA1779749576
8	g.43140416A>C	CA2739984279
8	g.43140416A>G	CA1779749577			dbSNP
8	g.43140416A>T	CA2687149688			gnomAD v4
8	g.43140417C>A	CA2687149689			gnomAD v4
8	g.43140417C=	CA1779749578
8	g.43140417C>G	CA2687149690			gnomAD v4
8	g.43140417C>T	CA1779749579			dbSNP gnomAD v4
8	g.43140423_43140430del	CA2579158839
8	g.43140418G>A	CA176095758			dbSNP gnomAD v4
8	g.43140418G>C	CA1779749581			dbSNP gnomAD v3 gnomAD v4
8	g.43140418G=	CA1779749580
8	g.43140418G>T	CA851967216			dbSNP gnomAD v3 gnomAD v4
8	g.43140419G>A	CA1113270063			dbSNP gnomAD v3 gnomAD v4
8	g.43140419G>C	CA1779749583			dbSNP gnomAD v4
8	g.43140419G=	CA1779749582
8	g.43140419G>T	CA2739984280
8	g.43140420G>A	CA851967217			dbSNP gnomAD v3 gnomAD v4
8	g.43140420G>C	CA2579158840
8	g.43140420G=	CA1779749584
8	g.43140420G>T	CA2739984281
8	g.43140421C>A	CA176095764			dbSNP gnomAD v3 gnomAD v4
8	g.43140421C=	CA1779749585
8	g.43140421C>T	CA645559749			gnomAD v4 COSMIC
8	g.43140422G>A	CA2687149691			gnomAD v4
8	g.43140422G>C	CA2739984282
8	g.43140422G>T	CA2687149692			gnomAD v4
8	g.43140423C>A	CA2687149693			gnomAD v4
8	g.43140423C>G	CA2739984283
8	g.43140423C>T	CA2579158841			gnomAD v4
8	g.43140424G>A	CA176095768			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140424G>C	CA2579158842
8	g.43140424G=	CA1779749586
8	g.43140424G>T	CA2687149695			gnomAD v4
8	g.43140430_43140496del	CA2687149694			gnomAD v4
8	g.43140425C>A	CA2687149696			gnomAD v4
8	g.43140425C=	CA1779749587
8	g.43140425C>G	CA176095781			dbSNP gnomAD v3 gnomAD v4
8	g.43140425C>T	CA2687149697			gnomAD v4
8	g.43140426G>A	CA176095794			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140426G>C	CA2739984284
8	g.43140426G=	CA1779749588
8	g.43140426G>T	CA2687149698			gnomAD v4
8	g.43140427G>A	CA176095806			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140427G=	CA1779749589
8	g.43140427G>T	CA2687149699			gnomAD v4
8	g.43140428G>A	CA176095815			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140428G>C	CA2687149700			gnomAD v4
8	g.43140428G=	CA1779749590
8	g.43140428G>T	CA2687149701			gnomAD v4
8	g.43140429C>A	CA2687149702			gnomAD v4
8	g.43140429C=	CA1779749591
8	g.43140429C>G	CA2739984285
8	g.43140429C>T	CA581633143			dbSNP gnomAD v2 gnomAD v4
8	g.43140430G>A	CA176095824			dbSNP gnomAD v2 gnomAD v4
8	g.43140430G>C	CA1113270074			dbSNP gnomAD v3 gnomAD v4
8	g.43140430G=	CA1779749592
8	g.43140430G>T	CA2687149703			gnomAD v4
8	g.43140431T>A	CA1779749595			dbSNP gnomAD v4
8	g.43140431T>C	CA1113270091			dbSNP gnomAD v3 gnomAD v4
8	g.43140431T>G	CA2687149704			gnomAD v4
8	g.43140431T=	CA1779749593
8	g.43140431_43140432delinsTC	CA1779749594
8	g.43140432C>A	CA2687149705			gnomAD v4
8	g.43140432C=	CA1779749597
8	g.43140432C>G	CA2687149706			gnomAD v4
8	g.43140432C>T	CA2687149707			gnomAD v4
8	g.43140433del	CA1779749596			dbSNP gnomAD v4
8	g.43140433C>A	CA1779749599			dbSNP gnomAD v4
8	g.43140433C=	CA1779749598
8	g.43140433C>T	CA851967230			dbSNP gnomAD v4
8	g.43140433_43140454del	CA2687149708			gnomAD v4
8	g.43140436_43140460dup	CA581633145			ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140434G>A	CA581633147			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140434G>C	CA2687149709			gnomAD v4
8	g.43140434G=	CA1779749600
8	g.43140434G>T	CA2687149710			gnomAD v4
8	g.43140438_43140440del	CA2579158843
8	g.43140435C>A	CA2687149711			gnomAD v4
8	g.43140435C>G	CA2739984286
8	g.43140435C>T	CA2579158844			gnomAD v4
8	g.43140436G>A	CA176095833			ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140436G=	CA1779749601
8	g.43140436G>T	CA2687149712			gnomAD v4
8	g.43140440_43140459dup	CA2779904794
8	g.43140437G>A	CA1779749603			dbSNP gnomAD v4
8	g.43140437G>C	CA2739984287
8	g.43140437G=	CA1779749602
8	g.43140437G>T	CA2687149713			gnomAD v4
8	g.43140438C>A	CA581633149			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140438C=	CA1779749604
8	g.43140438C>G	CA2739984288
8	g.43140438C>T	CA1779749605			dbSNP gnomAD v4
8	g.43140439G>A	CA1779749608			dbSNP gnomAD v4
8	g.43140439G>C	CA1779749606			dbSNP gnomAD v4
8	g.43140439G=	CA1779749607
8	g.43140439G>T	CA2687149714			gnomAD v4
8	g.43140440G>A	CA176095837			dbSNP gnomAD v4
8	g.43140440G>C	CA2687149715			gnomAD v4
8	g.43140440G=	CA1779749609
8	g.43140440G>T	CA2687149716			gnomAD v4
8	g.43140441A=	CA1779749610
8	g.43140441A>C	CA2739984289
8	g.43140441A>G	CA176095843			dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140441A>T	CA2739984290
8	g.43140441_43140446delinsAGCAGC	CA1779749611
8	g.43140442G>A	CA2687149718			gnomAD v4
8	g.43140442G>C	CA2739984291
8	g.43140442G>T	CA2687149717			gnomAD v4
8	g.43140446_43140450del	CA1779749612			dbSNP
8	g.43140444_43140458dup	CA2687149719			gnomAD v4
8	g.43140443C>A	CA2687149720			gnomAD v4
8	g.43140443C=	CA1779749613
8	g.43140443C>G	CA2739984292
8	g.43140443C>T	CA1113270108			dbSNP gnomAD v3 gnomAD v4
8	g.43140444A=	CA1779749614
8	g.43140444A>C	CA2739984293
8	g.43140444A>G	CA581633151			dbSNP gnomAD v2 gnomAD v4
8	g.43140444A>T	CA2739984294
8	g.43140445G>A	CA2579158845			gnomAD v4
8	g.43140445G>C	CA2739984295
8	g.43140445G>T	CA2687149721			gnomAD v4
8	g.43140446C>A	CA2579158846			gnomAD v4
8	g.43140446C=	CA1779749615
8	g.43140446C>G	CA851967235			dbSNP
8	g.43140446C>T	CA2687149722			gnomAD v4
8	g.43140447G>A	CA1113270112			dbSNP gnomAD v3 gnomAD v4
8	g.43140447G>C	CA2739984296
8	g.43140447G=	CA1779749616
8	g.43140447G>T	CA2687149724			gnomAD v4
8	g.43140455_43140517del	CA2687149723			gnomAD v4
8	g.43140448C>A	CA2687149725			gnomAD v4
8	g.43140448C=	CA1779749617
8	g.43140448C>G	CA1779749618			dbSNP
8	g.43140448C>T	CA2597247398			dbSNP gnomAD v3 gnomAD v4
8	g.43140449A=	CA1779749619	HGSNAT	c.-48A= (n.-48A=)
8	g.43140449A>C	CA1113270113	HGSNAT	c.-48A>C (n.-48A>C)	dbSNP gnomAD v3 gnomAD v4
8	g.43140449A>G	CA2687149726	HGSNAT	c.-48A>G (n.-48A>G)	gnomAD v4
8	g.43140449A>T	CA2739984297	HGSNAT	c.-48A>T (n.-48A>T)
8	g.43140450G>A	CA2687149728	HGSNAT	c.-47G>A (n.-47G>A)	gnomAD v4
8	g.43140450G>C	CA2739984298	HGSNAT	c.-47G>C (n.-47G>C)
8	g.43140450G=	CA1779749620	HGSNAT	c.-47G= (n.-47G=)
8	g.43140450G>T	CA176095851	HGSNAT	c.-47G>T (n.-47G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.43140452del	CA2687149727	HGSNAT	c.-45del (n.-45del)	gnomAD v4
8	g.43140455_43140459dup	CA851967239	HGSNAT	c.-42_-38dup (n.-42_-38dup)	ClinVar dbSNP gnomAD v3 gnomAD v4
8	g.43140451G>A	CA851967244	HGSNAT	c.-46G>A (n.-46G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.43140451G>C	CA2739984299	HGSNAT	c.-46G>C (n.-46G>C)
8	g.43140451G=	CA1779749621	HGSNAT	c.-46G= (n.-46G=)
8	g.43140451G>T	CA176095853	HGSNAT	c.-46G>T (n.-46G>T)	dbSNP gnomAD v4
8	g.43140452G>A	CA1113270134	HGSNAT	c.-45G>A (n.-45G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.43140452G>C	CA2739984300	HGSNAT	c.-45G>C (n.-45G>C)
8	g.43140452G=	CA1779749622	HGSNAT	c.-45G= (n.-45G=)
8	g.43140452G>T	CA2579158847	HGSNAT	c.-45G>T (n.-45G>T)	gnomAD v4
8	g.43140460_43140508del	CA2687149729	HGSNAT	c.-37_12del	gnomAD v4
8	g.43140453C>A	CA1779749624	HGSNAT	c.-44C>A (n.-44C>A)	dbSNP gnomAD v4
8	g.43140453C=	CA1779749623	HGSNAT	c.-44C= (n.-44C=)
8	g.43140453C>G	CA2739984301	HGSNAT	c.-44C>G (n.-44C>G)
8	g.43140453C>T	CA1113270137	HGSNAT	c.-44C>T (n.-44C>T)	dbSNP gnomAD v3 gnomAD v4
8	g.43140454G>A	CA851967250	HGSNAT	c.-43G>A (n.-43G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.43140454G=	CA1779749625	HGSNAT	c.-43G= (n.-43G=)
8	g.43140454G>T	CA2687149730	HGSNAT	c.-43G>T (n.-43G>T)	dbSNP gnomAD v4
8	g.43140457del	CA2579158848	HGSNAT	c.-40del (n.-40del)
8	g.43140455G>A	CA2579158849	HGSNAT	c.-42G>A (n.-42G>A)	gnomAD v4
8	g.43140455G>C	CA2739984302	HGSNAT	c.-42G>C (n.-42G>C)
8	g.43140455G>T	CA2687149731	HGSNAT	c.-42G>T (n.-42G>T)	gnomAD v4
8	g.43140457_43140479dup	CA851967253	HGSNAT	c.-40_-18dup (n.-40_-18dup)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched