Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73644504A>CCA364719088SLC17A5c.194T>G (p.Val65Gly)
c.143T>G (p.Val48Gly)
c.-5T>G (n.-5T>G)
c.61-2580T>G (n.61-2580T>G)
c.215T>G (p.Val72Gly)
6g.73644504A>GCA364719089SLC17A5c.194T>C (p.Val65Ala)
c.143T>C (p.Val48Ala)
c.-5T>C (n.-5T>C)
c.61-2580T>C (n.61-2580T>C)
c.215T>C (p.Val72Ala)
6g.73644504A>TCA364719092SLC17A5c.194T>A (p.Val65Glu)
c.143T>A (p.Val48Glu)
c.-5T>A (n.-5T>A)
c.61-2580T>A (n.61-2580T>A)
c.215T>A (p.Val72Glu)
6g.73644505C>ACA364719095SLC17A5c.193G>T (p.Val65Leu)
c.142G>T (p.Val48Leu)
c.-6G>T (n.-6G>T)
c.61-2581G>T (n.61-2581G>T)
c.214G>T (p.Val72Leu)
6g.73644505C>GCA364719096SLC17A5c.193G>C (p.Val65Leu)
c.142G>C (p.Val48Leu)
c.-6G>C (n.-6G>C)
c.61-2581G>C (n.61-2581G>C)
c.214G>C (p.Val72Leu)
6g.73644505C>TCA364719099SLC17A5c.193G>A (p.Val65Met)
c.142G>A (p.Val48Met)
c.-6G>A (n.-6G>A)
c.61-2581G>A (n.61-2581G>A)
c.214G>A (p.Val72Met)
6g.73644506T>ACA364719102SLC17A5c.192A>T (p.Leu64Phe)
c.141A>T (p.Leu47Phe)
c.-7A>T (n.-7A>T)
c.61-2582A>T (n.61-2582A>T)
c.213A>T (p.Leu71Phe)
6g.73644506T>CCA450912385SLC17A5c.192A>G (p.Leu64=)
c.141A>G (p.Leu47=)
c.-7A>G (n.-7A>G)
c.61-2582A>G (n.61-2582A>G)
c.213A>G (p.Leu71=)
 ClinVar gnomAD v4
6g.73644506T>GCA364719103SLC17A5c.192A>C (p.Leu64Phe)
c.141A>C (p.Leu47Phe)
c.-7A>C (n.-7A>C)
c.61-2582A>C (n.61-2582A>C)
c.213A>C (p.Leu71Phe)
 gnomAD v4
6g.73644507A>CCA364719106SLC17A5c.191T>G (p.Leu64Ter)
c.140T>G (p.Leu47Ter)
c.-8T>G (n.-8T>G)
c.61-2583T>G (n.61-2583T>G)
c.212T>G (p.Leu71Ter)
6g.73644507A>GCA364719108SLC17A5c.191T>C (p.Leu64Ser)
c.140T>C (p.Leu47Ser)
c.-8T>C (n.-8T>C)
c.61-2583T>C (n.61-2583T>C)
c.212T>C (p.Leu71Ser)
6g.73644507A>TCA364719109SLC17A5c.191T>A (p.Leu64Ter)
c.140T>A (p.Leu47Ter)
c.-8T>A (n.-8T>A)
c.61-2583T>A (n.61-2583T>A)
c.212T>A (p.Leu71Ter)
6g.73644508A=CA1638225573SLC17A5c.190T= (p.Leu64=)
c.139T= (p.Leu47=)
c.-9T= (n.-9T=)
c.61-2584T= (n.61-2584T=)
c.211T= (p.Leu71=)
6g.73644508A>CCA3890593SLC17A5c.190T>G (p.Leu64Val)
c.139T>G (p.Leu47Val)
c.-9T>G (n.-9T>G)
c.61-2584T>G (n.61-2584T>G)
c.211T>G (p.Leu71Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73644508A>GCA450912386SLC17A5c.190T>C (p.Leu64=)
c.139T>C (p.Leu47=)
c.-9T>C (n.-9T>C)
c.61-2584T>C (n.61-2584T>C)
c.211T>C (p.Leu71=)
6g.73644508A>TCA364719114SLC17A5c.190T>A (p.Leu64Ile)
c.139T>A (p.Leu47Ile)
c.-9T>A (n.-9T>A)
c.61-2584T>A (n.61-2584T>A)
c.211T>A (p.Leu71Ile)
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=)

Number of alleles fetched