Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.76586123_76586241delCA2640013725ST6GALNAC2n.88+637_88+755del
gnomAD v4
17g.76586181C>ACA986421129ST6GALNAC2n.88+688G>T
dbSNP gnomAD v3 gnomAD v4
17g.76586181C=CA2276069022ST6GALNAC2n.88+688G=
17g.76586181C>TCA2640013988ST6GALNAC2n.88+688G>A
gnomAD v4
17g.76586182G>ACA2640013991ST6GALNAC2n.88+687C>T
gnomAD v4
17g.76586182G=CA2276069023ST6GALNAC2n.88+687C=
17g.76586182G>TCA294194265ST6GALNAC2n.88+687C>A
dbSNP gnomAD v4
17g.76586183C>ACA2640014000ST6GALNAC2n.88+686G>T
gnomAD v4
17g.76586183C=CA2276069024ST6GALNAC2n.88+686G=
17g.76586183C>TCA775170416ST6GALNAC2n.88+686G>A
dbSNP
17g.76586184C>ACA627448170ST6GALNAC2n.88+685G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586184C=CA2276069025ST6GALNAC2n.88+685G=
17g.76586184C>TCA775170419ST6GALNAC2n.88+685G>A
dbSNP
17g.76586185G>ACA2640014002ST6GALNAC2n.88+684C>T
gnomAD v4
17g.76586185G>CCA294194268ST6GALNAC2n.88+684C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586185G=CA2276069026ST6GALNAC2n.88+684C=
17g.76586186T>CCA2640014006ST6GALNAC2n.88+683A>G
gnomAD v4
17g.76586188C=CA2276069027ST6GALNAC2n.88+681G=
17g.76586188C>TCA2276069028ST6GALNAC2n.88+681G>A
dbSNP gnomAD v4
17g.76586189G>ACA2640014009ST6GALNAC2n.88+680C>T
gnomAD v4
17g.76586189G>CCA2640014011ST6GALNAC2n.88+680C>G
gnomAD v4
17g.76586189G>TCA2640014013ST6GALNAC2n.88+680C>A
gnomAD v4
17g.76586190G>ACA2640014017ST6GALNAC2n.88+679C>T
gnomAD v4
17g.76586190G>TCA2640014018ST6GALNAC2n.88+679C>A
gnomAD v4
17g.76586191G>ACA775170424ST6GALNAC2n.88+678C>T
dbSNP gnomAD v4
17g.76586191G=CA2276069029ST6GALNAC2n.88+678C=
17g.76586192G>TCA2640014024ST6GALNAC2n.88+677C>A
gnomAD v4
17g.76586193C>ACA2640014028ST6GALNAC2n.88+676G>T
gnomAD v4
17g.76586193C>TCA2640014033ST6GALNAC2n.88+676G>A
gnomAD v4
17g.76586194T>ACA775170430ST6GALNAC2n.88+675A>T
dbSNP gnomAD v3 gnomAD v4
17g.76586194T>GCA2640014034ST6GALNAC2n.88+675A>C
gnomAD v4
17g.76586194T=CA2276069030ST6GALNAC2n.88+675A=
17g.76586195A=CA2276069032ST6GALNAC2n.88+674T=
17g.76586195A>GCA775170435ST6GALNAC2n.88+674T>C
dbSNP gnomAD v3 gnomAD v4
17g.76586195dupCA2276069031ST6GALNAC2n.88+674dup
dbSNP
17g.76586196G>ACA2640014037ST6GALNAC2n.88+673C>T
gnomAD v4
17g.76586196G>TCA2640014043ST6GALNAC2n.88+673C>A
gnomAD v4
17g.76586197C>ACA2640014044ST6GALNAC2n.88+672G>T
gnomAD v4
17g.76586197C>TCA2640014045ST6GALNAC2n.88+672G>A
gnomAD v4
17g.76586198T>CCA627448171ST6GALNAC2n.88+671A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586198T>GCA2640014050ST6GALNAC2n.88+671A>C
gnomAD v4
17g.76586198T=CA2276069033ST6GALNAC2n.88+671A=
17g.76586199A>CCA2810476794ST6GALNAC2n.88+670T>G
17g.76586200G>ACA2640014066ST6GALNAC2n.88+669C>T
gnomAD v4
17g.76586201G>ACA2640014069ST6GALNAC2n.88+668C>T
gnomAD v4
17g.76586202C>ACA2640014070ST6GALNAC2n.88+667G>T
gnomAD v4
17g.76586202C>TCA2640014071ST6GALNAC2n.88+667G>A
gnomAD v4
17g.76586203G>ACA2640014075ST6GALNAC2n.88+666C>T
gnomAD v4
17g.76586203G>TCA2640014077ST6GALNAC2n.88+666C>A
gnomAD v4
17g.76586204C>ACA2640014080ST6GALNAC2n.88+665G>T
gnomAD v4
17g.76586204C>TCA2640014081ST6GALNAC2n.88+665G>A
gnomAD v4
17g.76586205G>ACA2640014083ST6GALNAC2n.88+664C>T
gnomAD v4
17g.76586205G=CA2276069034ST6GALNAC2n.88+664C=
17g.76586205G>TCA627448173ST6GALNAC2n.88+664C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586206G>ACA294194271ST6GALNAC2n.88+663C>T
dbSNP gnomAD v3 gnomAD v4
17g.76586206G>CCA775170450ST6GALNAC2n.88+663C>G
dbSNP
17g.76586206G=CA2276069035ST6GALNAC2n.88+663C=
17g.76586206G>TCA2640014088ST6GALNAC2n.88+663C>A
gnomAD v4
17g.76586207G>ACA2640014096ST6GALNAC2n.88+662C>T
gnomAD v4
17g.76586207G>TCA2640014094ST6GALNAC2n.88+662C>A
gnomAD v4
17g.76586208T>ACA2640014098ST6GALNAC2n.88+661A>T
gnomAD v4
17g.76586208T>CCA2640014099ST6GALNAC2n.88+661A>G
gnomAD v4
17g.76586208T>GCA2640014100ST6GALNAC2n.88+661A>C
gnomAD v4
17g.76586209A>GCA2640014103ST6GALNAC2n.88+660T>C
gnomAD v4
17g.76586209A>TCA2640014104ST6GALNAC2n.88+660T>A
gnomAD v4
17g.76586210G>CCA2734043281ST6GALNAC2n.88+659C>G
dbSNP
17g.76586211A>GCA2640014105ST6GALNAC2n.88+658T>C
gnomAD v4
17g.76586211A>TCA2640014110ST6GALNAC2n.88+658T>A
gnomAD v4
17g.76586212C>ACA294194284ST6GALNAC2n.88+657G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586212C=CA2276069036ST6GALNAC2n.88+657G=
17g.76586212C>TCA627448175ST6GALNAC2n.88+657G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586216_76586218delCA2640014114ST6GALNAC2n.88+655_88+657del
gnomAD v4
17g.76586213G>ACA2640014119ST6GALNAC2n.88+656C>T
gnomAD v4
17g.76586214C>ACA2640014122ST6GALNAC2n.88+655G>T
gnomAD v4
17g.76586215C=CA2276069037ST6GALNAC2n.88+654G=
17g.76586215C>GCA627448176ST6GALNAC2n.88+654G>C
dbSNP gnomAD v2
17g.76586216G>ACA2640014125ST6GALNAC2n.88+653C>T
gnomAD v4
17g.76586216G=CA2276069038ST6GALNAC2n.88+653C=
17g.76586216G>TCA986421138ST6GALNAC2n.88+653C>A
dbSNP gnomAD v3 gnomAD v4
17g.76586217C>ACA2640014127ST6GALNAC2n.88+652G>T
gnomAD v4
17g.76586217C=CA2276069039ST6GALNAC2n.88+652G=
17g.76586217C>TCA2276069040ST6GALNAC2n.88+652G>A
dbSNP gnomAD v3 gnomAD v4
17g.76586218C>ACA2640014134ST6GALNAC2n.88+651G>T
gnomAD v4
17g.76586218C>TCA2640014135ST6GALNAC2n.88+651G>A
gnomAD v4
17g.76586220C>ACA2640014138ST6GALNAC2n.88+649G>T
gnomAD v4
17g.76586220C=CA2276069041ST6GALNAC2n.88+649G=
17g.76586221C>ACA2640014143ST6GALNAC2n.88+648G>T
gnomAD v4
17g.76586221C>TCA2640014175ST6GALNAC2n.88+648G>A
gnomAD v4
17g.76586225_76586250dupCA2276069042ST6GALNAC2n.88+623_88+648dup
dbSNP gnomAD v4
17g.76586222T>ACA2640014183ST6GALNAC2n.88+647A>T
gnomAD v4
17g.76586222T>CCA2640014185ST6GALNAC2n.88+647A>G
gnomAD v4
17g.76586223G>TCA2640014186ST6GALNAC2n.88+646C>A
gnomAD v4
17g.76586224C>ACA2640014189ST6GALNAC2n.88+645G>T
gnomAD v4
17g.76586227C>ACA2640014193ST6GALNAC2n.88+642G>T
gnomAD v4
17g.76586227C=CA2276069043ST6GALNAC2n.88+642G=
17g.76586227C>TCA294194286ST6GALNAC2n.88+642G>A
dbSNP gnomAD v4
17g.76586228G>ACA2640014198ST6GALNAC2n.88+641C>T
gnomAD v4
17g.76586228G=CA2276069044ST6GALNAC2n.88+641C=
17g.76586228G>TCA2276069045ST6GALNAC2n.88+641C>A
dbSNP
17g.76586229C>ACA775170464ST6GALNAC2n.88+640G>T
dbSNP gnomAD v4
17g.76586229C=CA2276069046ST6GALNAC2n.88+640G=
17g.76586229C>TCA2276069047ST6GALNAC2n.88+640G>A
dbSNP
17g.76586230T>ACA2567440885ST6GALNAC2n.88+639A>T
17g.76586230T>GCA775170465ST6GALNAC2n.88+639A>C
dbSNP gnomAD v4
17g.76586230T=CA2276069048ST6GALNAC2n.88+639A=
17g.76586231G>ACA775170466ST6GALNAC2n.88+638C>T
dbSNP gnomAD v3 gnomAD v4
17g.76586231G=CA2276069049ST6GALNAC2n.88+638C=
17g.76586231G>TCA2640014208ST6GALNAC2n.88+638C>A
gnomAD v4
17g.76586232G>ACA2640014216ST6GALNAC2n.88+637C>T
gnomAD v4
17g.76586232G=CA2276069050ST6GALNAC2n.88+637C=
17g.76586232G>TCA775170467ST6GALNAC2n.88+637C>A
dbSNP
17g.76586233C>ACA2640014221ST6GALNAC2n.88+636G>T
gnomAD v4
17g.76586233C=CA2276069051ST6GALNAC2n.88+636G=
17g.76586233C>GCA294194289ST6GALNAC2n.88+636G>C
dbSNP gnomAD v3 gnomAD v4
17g.76586234T>ACA2640014226ST6GALNAC2n.88+635A>T
gnomAD v4
17g.76586234T>CCA2640014227ST6GALNAC2n.88+635A>G
gnomAD v4
17g.76586234T>GCA775170468ST6GALNAC2n.88+635A>C
dbSNP
17g.76586234T=CA2276069052ST6GALNAC2n.88+635A=
17g.76586235G>ACA2640014228ST6GALNAC2n.88+634C>T
gnomAD v4
17g.76586236C=CA2276069053ST6GALNAC2n.88+633G=
17g.76586236C>TCA294194293ST6GALNAC2n.88+633G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586237G>ACA2276069055ST6GALNAC2n.88+632C>T
dbSNP gnomAD v4
17g.76586237G>CCA2276069056ST6GALNAC2n.88+632C>G
dbSNP
17g.76586237G=CA2276069054ST6GALNAC2n.88+632C=
17g.76586237G>TCA2640014230ST6GALNAC2n.88+632C>A
gnomAD v4
17g.76586238C>ACA986421147ST6GALNAC2n.88+631G>T
dbSNP gnomAD v3 gnomAD v4
17g.76586238C=CA2276069057ST6GALNAC2n.88+631G=
17g.76586238C>TCA2640014233ST6GALNAC2n.88+631G>A
gnomAD v4
17g.76586239T>CCA2640014234ST6GALNAC2n.88+630A>G
gnomAD v4
17g.76586239T>GCA294194295ST6GALNAC2n.88+630A>C
dbSNP gnomAD v3 gnomAD v4
17g.76586239T=CA2276069058ST6GALNAC2n.88+630A=
17g.76586240C>ACA2640014237ST6GALNAC2n.88+629G>T
gnomAD v4
17g.76586241T>CCA2810476795ST6GALNAC2n.88+628A>G
17g.76586241T>GCA2640014239ST6GALNAC2n.88+628A>C
gnomAD v4
17g.76586242G>ACA2640014244ST6GALNAC2n.88+627C>T
gnomAD v4
17g.76586242G>CCA2640014246ST6GALNAC2n.88+627C>G
gnomAD v4
17g.76586243C>ACA2276069060ST6GALNAC2n.88+626G>T
dbSNP gnomAD v4
17g.76586243C=CA2276069059ST6GALNAC2n.88+626G=
17g.76586243C>TCA2640014249ST6GALNAC2n.88+626G>A
gnomAD v4
17g.76586244C>GCA2640014252ST6GALNAC2n.88+625G>C
gnomAD v4
17g.76586244C>TCA2640014253ST6GALNAC2n.88+625G>A
gnomAD v4
17g.76586245C>ACA2640014258ST6GALNAC2n.88+624G>T
gnomAD v4
17g.76586246T>CCA2640014259ST6GALNAC2n.88+623A>G
gnomAD v4
17g.76586246T>GCA2640014262ST6GALNAC2n.88+623A>C
gnomAD v4
17g.76586247C>ACA2640014264ST6GALNAC2n.88+622G>T
gnomAD v4
17g.76586247C>TCA2640014265ST6GALNAC2n.88+622G>A
gnomAD v4
17g.76586248T>CCA2640014271ST6GALNAC2n.88+621A>G
gnomAD v4
17g.76586248T>GCA2640014272ST6GALNAC2n.88+621A>C
gnomAD v4
17g.76586249G>ACA2640014294ST6GALNAC2n.88+620C>T
gnomAD v4
17g.76586250C>ACA986421152ST6GALNAC2n.88+619G>T
dbSNP gnomAD v4
17g.76586250C=CA2276069061ST6GALNAC2n.88+619G=
17g.76586250C>TCA294194297ST6GALNAC2n.88+619G>A
dbSNP gnomAD v3 gnomAD v4
17g.76586251G>ACA2640014302ST6GALNAC2n.88+618C>T
dbSNP gnomAD v4
17g.76586251G>TCA2640014332ST6GALNAC2n.88+618C>A
gnomAD v4
17g.76586252G>ACA2640014333ST6GALNAC2n.88+617C>T
gnomAD v4
17g.76586253G>ACA294194298ST6GALNAC2n.88+616C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586253G=CA2276069062ST6GALNAC2n.88+616C=
17g.76586253G>TCA2810476796ST6GALNAC2n.88+616C>A
17g.76586253_76586254insACA2640014339ST6GALNAC2n.88+615_88+616insT
gnomAD v4
17g.76586254C>ACA2640014340ST6GALNAC2n.88+615G>T
gnomAD v4
17g.76586254C=CA2276069063ST6GALNAC2n.88+615G=
17g.76586254C>GCA2640014342ST6GALNAC2n.88+615G>C
gnomAD v4
17g.76586254C>TCA2640014341ST6GALNAC2n.88+615G>A
gnomAD v4
17g.76586255C>ACA2640014350ST6GALNAC2n.88+614G>T
gnomAD v4
17g.76586255C>TCA2640014349ST6GALNAC2n.88+614G>A
gnomAD v4
17g.76586255_76586256insGGCCA2640014351ST6GALNAC2n.88+614_88+615insCCG
gnomAD v4
17g.76586255_76586256insAGGCCA2640014354ST6GALNAC2n.88+614_88+615insCCTG
gnomAD v4
17g.76586257_76586258insACCGCA2640014348ST6GALNAC2n.88+614_88+615insTCGG
gnomAD v4
17g.76586256_76586259dupCA294194301ST6GALNAC2n.88+611_88+614dup
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586256C>ACA2640014358ST6GALNAC2n.88+613G>T
gnomAD v4
17g.76586256C=CA2276069064ST6GALNAC2n.88+613G=
17g.76586256C>GCA294194304ST6GALNAC2n.88+613G>C
dbSNP gnomAD v3 gnomAD v4
17g.76586256C>TCA2640014361ST6GALNAC2n.88+613G>A
gnomAD v4
17g.76586257G>ACA294194307ST6GALNAC2n.88+612C>T
dbSNP gnomAD v2 gnomAD v4
17g.76586257G>CCA775170477ST6GALNAC2n.88+612C>G
dbSNP gnomAD v4
17g.76586257G=CA2276069065ST6GALNAC2n.88+612C=
17g.76586257G>TCA2640014371ST6GALNAC2n.88+612C>A
gnomAD v4
17g.76586258G>ACA627448183ST6GALNAC2n.88+611C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586258G=CA2276069066ST6GALNAC2n.88+611C=
17g.76586258G>TCA2640014378ST6GALNAC2n.88+611C>A
gnomAD v4
17g.76586259C>ACA2640014381ST6GALNAC2n.88+610G>T
gnomAD v4
17g.76586259C>TCA2640014385ST6GALNAC2n.88+610G>A
gnomAD v4
17g.76586260A>CCA2734043284ST6GALNAC2n.88+609T>G
dbSNP
17g.76586260_76586262delCA2640014386ST6GALNAC2n.88+607_88+609del
gnomAD v4
17g.76586261C>ACA2640014389ST6GALNAC2n.88+608G>T
gnomAD v4
17g.76586261C=CA2276069068ST6GALNAC2n.88+608G=
17g.76586261C>TCA2276069067ST6GALNAC2n.88+608G>A
dbSNP gnomAD v4
17g.76586262T>GCA2640014391ST6GALNAC2n.88+607A>C
gnomAD v4
17g.76586263C>ACA2640014395ST6GALNAC2n.88+606G>T
gnomAD v4
17g.76586263C>TCA2640014396ST6GALNAC2n.88+606G>A
gnomAD v4
17g.76586264G>ACA2640014399ST6GALNAC2n.88+605C>T
gnomAD v4
17g.76586264G>CCA775170484ST6GALNAC2n.88+605C>G
dbSNP gnomAD v4
17g.76586264G=CA2276069069ST6GALNAC2n.88+605C=
17g.76586264G>TCA2640014421ST6GALNAC2n.88+605C>A
gnomAD v4
17g.76586265G>ACA2276069071ST6GALNAC2n.88+604C>T
dbSNP gnomAD v4
17g.76586265G=CA2276069070ST6GALNAC2n.88+604C=
17g.76586266C>ACA294194310ST6GALNAC2n.88+603G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.76586266C=CA2276069072ST6GALNAC2n.88+603G=
17g.76586266C>GCA2276069073ST6GALNAC2n.88+603G>C
dbSNP
17g.76586266C>TCA2810476797ST6GALNAC2n.88+603G>A
17g.76586267C>ACA2640014424ST6GALNAC2n.88+602G>T
gnomAD v4
17g.76586268T>ACA2640014427ST6GALNAC2n.88+601A>T
gnomAD v4
17g.76586269C>ACA2640014428ST6GALNAC2n.88+600G>T
gnomAD v4
17g.76586270T>CCA2640014430ST6GALNAC2n.88+599A>G
gnomAD v4
17g.76586270T>GCA2640014431ST6GALNAC2n.88+599A>C
gnomAD v4
17g.76586271A>GCA2640014432ST6GALNAC2n.88+598T>C
gnomAD v4
17g.76586272G>TCA2640014433ST6GALNAC2n.88+597C>A
gnomAD v4
17g.76586273A>CCA2640014435ST6GALNAC2n.88+596T>G
gnomAD v4
17g.76586273A>GCA2640014437ST6GALNAC2n.88+596T>C
gnomAD v4
17g.76586273_76586275delinsACTCA2276069074ST6GALNAC2n.88+594_88+596delinsAGT
17g.76586274C=CA2276069076ST6GALNAC2n.88+595G=
17g.76586274C>TCA2276069077ST6GALNAC2n.88+595G>A
dbSNP
17g.76586276_76586277delCA2276069075ST6GALNAC2n.88+594_88+595del
dbSNP
17g.76586275T>ACA2640014442ST6GALNAC2n.88+594A>T
gnomAD v4
17g.76586275T>CCA2640014444ST6GALNAC2n.88+594A>G
gnomAD v4
17g.76586276C>ACA2640014447ST6GALNAC2n.88+593G>T
gnomAD v4
17g.76586276_76586278delinsCTGCA2276069078ST6GALNAC2n.88+591_88+593delinsCAG
17g.76586277T>ACA2640014456ST6GALNAC2n.88+592A>T
gnomAD v4
17g.76586277T>CCA2640014453ST6GALNAC2n.88+592A>G
gnomAD v4
17g.76586279_76586280delCA775170488ST6GALNAC2n.88+591_88+592del
dbSNP gnomAD v3 gnomAD v4
17g.76586278G>ACA2640014459ST6GALNAC2n.88+591C>T
gnomAD v4
17g.76586278G>TCA2640014463ST6GALNAC2n.88+591C>A
gnomAD v4
17g.76586279T>CCA2276069080ST6GALNAC2n.88+590A>G
dbSNP
17g.76586279T=CA2276069079ST6GALNAC2n.88+590A=
17g.76586281G>CCA2276069082ST6GALNAC2n.88+588C>G
dbSNP
17g.76586281G=CA2276069081ST6GALNAC2n.88+588C=

Number of alleles fetched