Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73644509C>ACA450912387SLC17A5c.189G>T (p.Ala63=)
c.138G>T (p.Ala46=)
c.-10G>T (n.-10G>T)
c.61-2585G>T (n.61-2585G>T)
c.210G>T (p.Ala70=)
 gnomAD v4
6g.73644509C=CA1638225575SLC17A5c.189G= (p.Ala63=)
c.138G= (p.Ala46=)
c.-10G= (n.-10G=)
c.61-2585G= (n.61-2585G=)
c.210G= (p.Ala70=)
6g.73644509C>GCA450912388SLC17A5c.189G>C (p.Ala63=)
c.138G>C (p.Ala46=)
c.-10G>C (n.-10G>C)
c.61-2585G>C (n.61-2585G>C)
c.210G>C (p.Ala70=)
6g.73644509C>TCA140978010SLC17A5c.189G>A (p.Ala63=)
c.138G>A (p.Ala46=)
c.-10G>A (n.-10G>A)
c.61-2585G>A (n.61-2585G>A)
c.210G>A (p.Ala70=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73644510G>ACA364719117SLC17A5c.188C>T (p.Ala63Val)
c.137C>T (p.Ala46Val)
c.-11C>T (n.-11C>T)
c.61-2586C>T (n.61-2586C>T)
c.209C>T (p.Ala70Val)
 gnomAD v4 COSMIC
6g.73644510G>CCA364719125SLC17A5c.188C>G (p.Ala63Gly)
c.137C>G (p.Ala46Gly)
c.-11C>G (n.-11C>G)
c.61-2586C>G (n.61-2586C>G)
c.209C>G (p.Ala70Gly)
6g.73644510G>TCA364719119SLC17A5c.188C>A (p.Ala63Glu)
c.137C>A (p.Ala46Glu)
c.-11C>A (n.-11C>A)
c.61-2586C>A (n.61-2586C>A)
c.209C>A (p.Ala70Glu)
6g.73644511C>ACA364719128SLC17A5c.187G>T (p.Ala63Ser)
c.136G>T (p.Ala46Ser)
c.-12G>T (n.-12G>T)
c.61-2587G>T (n.61-2587G>T)
c.208G>T (p.Ala70Ser)
6g.73644511C=CA1638225579SLC17A5c.187G= (p.Ala63=)
c.136G= (p.Ala46=)
c.-12G= (n.-12G=)
c.61-2587G= (n.61-2587G=)
c.208G= (p.Ala70=)
6g.73644511C>GCA364719131SLC17A5c.187G>C (p.Ala63Pro)
c.136G>C (p.Ala46Pro)
c.-12G>C (n.-12G>C)
c.61-2587G>C (n.61-2587G>C)
c.208G>C (p.Ala70Pro)
6g.73644511C>TCA364719133SLC17A5c.187G>A (p.Ala63Thr)
c.136G>A (p.Ala46Thr)
c.-12G>A (n.-12G>A)
c.61-2587G>A (n.61-2587G>A)
c.208G>A (p.Ala70Thr)
 dbSNP COSMIC
6g.73644512A=CA1638225581SLC17A5c.186T= (p.Val62=)
c.135T= (p.Val45=)
c.-13T= (n.-13T=)
c.61-2588T= (n.61-2588T=)
c.207T= (p.Val69=)
6g.73644512A>CCA450912389SLC17A5c.186T>G (p.Val62=)
c.135T>G (p.Val45=)
c.-13T>G (n.-13T>G)
c.61-2588T>G (n.61-2588T>G)
c.207T>G (p.Val69=)
6g.73644512A>GCA140978029SLC17A5c.186T>C (p.Val62=)
c.135T>C (p.Val45=)
c.-13T>C (n.-13T>C)
c.61-2588T>C (n.61-2588T>C)
c.207T>C (p.Val69=)
 dbSNP
6g.73644512A>TCA450912390SLC17A5c.186T>A (p.Val62=)
c.135T>A (p.Val45=)
c.-13T>A (n.-13T>A)
c.61-2588T>A (n.61-2588T>A)
c.207T>A (p.Val69=)
6g.73644513A>CCA364719135SLC17A5c.185T>G (p.Val62Gly)
c.134T>G (p.Val45Gly)
c.-14T>G (n.-14T>G)
c.61-2589T>G (n.61-2589T>G)
c.206T>G (p.Val69Gly)
 gnomAD v4
6g.73644513A>GCA364719138SLC17A5c.185T>C (p.Val62Ala)
c.134T>C (p.Val45Ala)
c.-14T>C (n.-14T>C)
c.61-2589T>C (n.61-2589T>C)
c.206T>C (p.Val69Ala)
6g.73644513A>TCA364719141SLC17A5c.185T>A (p.Val62Asp)
c.134T>A (p.Val45Asp)
c.-14T>A (n.-14T>A)
c.61-2589T>A (n.61-2589T>A)
c.206T>A (p.Val69Asp)
6g.73644514C>ACA364719144SLC17A5c.184G>T (p.Val62Phe)
c.133G>T (p.Val45Phe)
c.-15G>T (n.-15G>T)
c.61-2590G>T (n.61-2590G>T)
c.205G>T (p.Val69Phe)
6g.73644514C>GCA364719146SLC17A5c.184G>C (p.Val62Leu)
c.133G>C (p.Val45Leu)
c.-15G>C (n.-15G>C)
c.61-2590G>C (n.61-2590G>C)
c.205G>C (p.Val69Leu)
6g.73644514C>TCA364719148SLC17A5c.184G>A (p.Val62Ile)
c.133G>A (p.Val45Ile)
c.-15G>A (n.-15G>A)
c.61-2590G>A (n.61-2590G>A)
c.205G>A (p.Val69Ile)
6g.73644515A>CCA364719149SLC17A5c.183T>G (p.Ser61Arg)
c.132T>G (p.Ser44Arg)
c.-16T>G (n.-16T>G)
c.61-2591T>G (n.61-2591T>G)
c.204T>G (p.Ser68Arg)
6g.73644515A>GCA450912391SLC17A5c.183T>C (p.Ser61=)
c.132T>C (p.Ser44=)
c.-16T>C (n.-16T>C)
c.61-2591T>C (n.61-2591T>C)
c.204T>C (p.Ser68=)
6g.73644515A>TCA364719150SLC17A5c.183T>A (p.Ser61Arg)
c.132T>A (p.Ser44Arg)
c.-16T>A (n.-16T>A)
c.61-2591T>A (n.61-2591T>A)
c.204T>A (p.Ser68Arg)
6g.73644516C>ACA364719154SLC17A5c.182G>T (p.Ser61Ile)
c.131G>T (p.Ser44Ile)
c.-17G>T (n.-17G>T)
c.61-2592G>T (n.61-2592G>T)
c.203G>T (p.Ser68Ile)
6g.73644516C>GCA364719156SLC17A5c.182G>C (p.Ser61Thr)
c.131G>C (p.Ser44Thr)
c.-17G>C (n.-17G>C)
c.61-2592G>C (n.61-2592G>C)
c.203G>C (p.Ser68Thr)
6g.73644516C>TCA364719152SLC17A5c.182G>A (p.Ser61Asn)
c.131G>A (p.Ser44Asn)
c.-17G>A (n.-17G>A)
c.61-2592G>A (n.61-2592G>A)
c.203G>A (p.Ser68Asn)
 gnomAD v4
6g.73644517T>ACA364719160SLC17A5c.181A>T (p.Ser61Cys)
c.130A>T (p.Ser44Cys)
c.-18A>T (n.-18A>T)
c.61-2593A>T (n.61-2593A>T)
c.202A>T (p.Ser68Cys)
 gnomAD v4
6g.73644517T>CCA364719158SLC17A5c.181A>G (p.Ser61Gly)
c.130A>G (p.Ser44Gly)
c.-18A>G (n.-18A>G)
c.61-2593A>G (n.61-2593A>G)
c.202A>G (p.Ser68Gly)
6g.73644517T>GCA364719162SLC17A5c.181A>C (p.Ser61Arg)
c.130A>C (p.Ser44Arg)
c.-18A>C (n.-18A>C)
c.61-2593A>C (n.61-2593A>C)
c.202A>C (p.Ser68Arg)
6g.73644518C>ACA450912392SLC17A5c.180G>T (p.Leu60=)
c.129G>T (p.Leu43=)
c.-19G>T (n.-19G>T)
c.61-2594G>T (n.61-2594G>T)
c.201G>T (p.Leu67=)
6g.73644518C>GCA450912393SLC17A5c.180G>C (p.Leu60=)
c.129G>C (p.Leu43=)
c.-19G>C (n.-19G>C)
c.61-2594G>C (n.61-2594G>C)
c.201G>C (p.Leu67=)
 ClinVar
6g.73644518C>TCA450912394SLC17A5c.180G>A (p.Leu60=)
c.129G>A (p.Leu43=)
c.-19G>A (n.-19G>A)
c.61-2594G>A (n.61-2594G>A)
c.201G>A (p.Leu67=)
6g.73644519A=CA1638225584SLC17A5c.179T= (p.Leu60=)
c.128T= (p.Leu43=)
c.-20T= (n.-20T=)
c.61-2595T= (n.61-2595T=)
c.200T= (p.Leu67=)
6g.73644519A>CCA364719163SLC17A5c.179T>G (p.Leu60Arg)
c.128T>G (p.Leu43Arg)
c.-20T>G (n.-20T>G)
c.61-2595T>G (n.61-2595T>G)
c.200T>G (p.Leu67Arg)
6g.73644519A>GCA364719167SLC17A5c.179T>C (p.Leu60Pro)
c.128T>C (p.Leu43Pro)
c.-20T>C (n.-20T>C)
c.61-2595T>C (n.61-2595T>C)
c.200T>C (p.Leu67Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.73644519A>TCA364719165SLC17A5c.179T>A (p.Leu60Gln)
c.128T>A (p.Leu43Gln)
c.-20T>A (n.-20T>A)
c.61-2595T>A (n.61-2595T>A)
c.200T>A (p.Leu67Gln)
6g.73644519dupCA2679405064SLC17A5c.179dup (p.Ser61GlufsTer17)
c.128dup (p.Ser44GlufsTer17)
c.-20dup (n.-20dup)
c.61-2595dup (n.61-2595dup)
c.200dup (p.Ser68GlufsTer17)
 gnomAD v4
6g.73644520G>ACA450912395SLC17A5c.178C>T (p.Leu60=)
c.127C>T (p.Leu43=)
c.-21C>T (n.-21C>T)
c.61-2596C>T (n.61-2596C>T)
c.199C>T (p.Leu67=)
 ClinVar
6g.73644520G>CCA364719168SLC17A5c.178C>G (p.Leu60Val)
c.127C>G (p.Leu43Val)
c.-21C>G (n.-21C>G)
c.61-2596C>G (n.61-2596C>G)
c.199C>G (p.Leu67Val)
6g.73644520G>TCA364719170SLC17A5c.178C>A (p.Leu60Met)
c.127C>A (p.Leu43Met)
c.-21C>A (n.-21C>A)
c.61-2596C>A (n.61-2596C>A)
c.199C>A (p.Leu67Met)
6g.73644521A>CCA364719175SLC17A5c.177T>G (p.Asn59Lys)
c.126T>G (p.Asn42Lys)
c.-22T>G (n.-22T>G)
c.61-2597T>G (n.61-2597T>G)
c.198T>G (p.Asn66Lys)
6g.73644521A>GCA450912396SLC17A5c.177T>C (p.Asn59=)
c.126T>C (p.Asn42=)
c.-22T>C (n.-22T>C)
c.61-2597T>C (n.61-2597T>C)
c.198T>C (p.Asn66=)
 dbSNP
6g.73644521A>TCA364719177SLC17A5c.177T>A (p.Asn59Lys)
c.126T>A (p.Asn42Lys)
c.-22T>A (n.-22T>A)
c.61-2597T>A (n.61-2597T>A)
c.198T>A (p.Asn66Lys)
6g.73644522T>ACA364719178SLC17A5c.176A>T (p.Asn59Ile)
c.125A>T (p.Asn42Ile)
c.-23A>T (n.-23A>T)
c.61-2598A>T (n.61-2598A>T)
c.197A>T (p.Asn66Ile)
6g.73644522T>CCA364719179SLC17A5c.176A>G (p.Asn59Ser)
c.125A>G (p.Asn42Ser)
c.-23A>G (n.-23A>G)
c.61-2598A>G (n.61-2598A>G)
c.197A>G (p.Asn66Ser)
 gnomAD v4
6g.73644522T>GCA364719180SLC17A5c.176A>C (p.Asn59Thr)
c.125A>C (p.Asn42Thr)
c.-23A>C (n.-23A>C)
c.61-2598A>C (n.61-2598A>C)
c.197A>C (p.Asn66Thr)
6g.73644523T>ACA364719181SLC17A5c.175A>T (p.Asn59Tyr)
c.124A>T (p.Asn42Tyr)
c.-24A>T (n.-24A>T)
c.61-2599A>T (n.61-2599A>T)
c.196A>T (p.Asn66Tyr)
6g.73644523T>CCA364719182SLC17A5c.175A>G (p.Asn59Asp)
c.124A>G (p.Asn42Asp)
c.-24A>G (n.-24A>G)
c.61-2599A>G (n.61-2599A>G)
c.196A>G (p.Asn66Asp)
6g.73644523T>GCA364719183SLC17A5c.175A>C (p.Asn59His)
c.124A>C (p.Asn42His)
c.-24A>C (n.-24A>C)
c.61-2599A>C (n.61-2599A>C)
c.196A>C (p.Asn66His)

Number of alleles fetched