Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
6g.73644524C>ACA450912397SLC17A5c.174G>T (p.Val58=)
c.123G>T (p.Val41=)
c.-25G>T (n.-25G>T)
c.61-2600G>T (n.61-2600G>T)
c.195G>T (p.Val65=)
6g.73644524C=CA1638225586SLC17A5c.174G= (p.Val58=)
c.123G= (p.Val41=)
c.-25G= (n.-25G=)
c.61-2600G= (n.61-2600G=)
c.195G= (p.Val65=)
6g.73644524C>GCA450912398SLC17A5c.174G>C (p.Val58=)
c.123G>C (p.Val41=)
c.-25G>C (n.-25G>C)
c.61-2600G>C (n.61-2600G>C)
c.195G>C (p.Val65=)
6g.73644524C>TCA450912399SLC17A5c.174G>A (p.Val58=)
c.123G>A (p.Val41=)
c.-25G>A (n.-25G>A)
c.61-2600G>A (n.61-2600G>A)
c.195G>A (p.Val65=)
 dbSNP
6g.73644525A>CCA364719186SLC17A5c.173T>G (p.Val58Gly)
c.122T>G (p.Val41Gly)
c.-26T>G (n.-26T>G)
c.61-2601T>G (n.61-2601T>G)
c.194T>G (p.Val65Gly)
6g.73644525A>GCA364719185SLC17A5c.173T>C (p.Val58Ala)
c.122T>C (p.Val41Ala)
c.-26T>C (n.-26T>C)
c.61-2601T>C (n.61-2601T>C)
c.194T>C (p.Val65Ala)
6g.73644525A>TCA364719184SLC17A5c.173T>A (p.Val58Glu)
c.122T>A (p.Val41Glu)
c.-26T>A (n.-26T>A)
c.61-2601T>A (n.61-2601T>A)
c.194T>A (p.Val65Glu)
6g.73644526C>ACA364719187SLC17A5c.172G>T (p.Val58Leu)
c.121G>T (p.Val41Leu)
c.-27G>T (n.-27G>T)
c.61-2602G>T (n.61-2602G>T)
c.193G>T (p.Val65Leu)
6g.73644526C>GCA364719188SLC17A5c.172G>C (p.Val58Leu)
c.121G>C (p.Val41Leu)
c.-27G>C (n.-27G>C)
c.61-2602G>C (n.61-2602G>C)
c.193G>C (p.Val65Leu)
6g.73644526C>TCA364719189SLC17A5c.172G>A (p.Val58Met)
c.121G>A (p.Val41Met)
c.-27G>A (n.-27G>A)
c.61-2602G>A (n.61-2602G>A)
c.193G>A (p.Val65Met)
6g.73644527A>CCA450912400SLC17A5c.171T>G (p.Arg57=)
c.120T>G (p.Arg40=)
c.-28T>G (n.-28T>G)
c.61-2603T>G (n.61-2603T>G)
c.192T>G (p.Arg64=)
6g.73644527A>GCA450912401SLC17A5c.171T>C (p.Arg57=)
c.120T>C (p.Arg40=)
c.-28T>C (n.-28T>C)
c.61-2603T>C (n.61-2603T>C)
c.192T>C (p.Arg64=)
6g.73644527A>TCA450912402SLC17A5c.171T>A (p.Arg57=)
c.120T>A (p.Arg40=)
c.-28T>A (n.-28T>A)
c.61-2603T>A (n.61-2603T>A)
c.192T>A (p.Arg64=)
6g.73644528C>ACA364719190SLC17A5c.170G>T (p.Arg57Leu)
c.119G>T (p.Arg40Leu)
c.-29G>T (n.-29G>T)
c.61-2604G>T (n.61-2604G>T)
c.191G>T (p.Arg64Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.73644528C=CA1638225590SLC17A5c.170G= (p.Arg57=)
c.119G= (p.Arg40=)
c.-29G= (n.-29G=)
c.61-2604G= (n.61-2604G=)
c.191G= (p.Arg64=)
6g.73644528C>GCA364719191SLC17A5c.170G>C (p.Arg57Pro)
c.119G>C (p.Arg40Pro)
c.-29G>C (n.-29G>C)
c.61-2604G>C (n.61-2604G>C)
c.191G>C (p.Arg64Pro)
 gnomAD v4
6g.73644528C>TCA3890594SLC17A5c.170G>A (p.Arg57His)
c.119G>A (p.Arg40His)
c.-29G>A (n.-29G>A)
c.61-2604G>A (n.61-2604G>A)
c.191G>A (p.Arg64His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73644529G>ACA3890595SLC17A5c.169C>T (p.Arg57Cys)
c.118C>T (p.Arg40Cys)
c.-30C>T (n.-30C>T)
c.61-2605C>T (n.61-2605C>T)
c.190C>T (p.Arg64Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.73644529G>CCA364719192SLC17A5c.169C>G (p.Arg57Gly)
c.118C>G (p.Arg40Gly)
c.-30C>G (n.-30C>G)
c.61-2605C>G (n.61-2605C>G)
c.190C>G (p.Arg64Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.73644529G=CA1638225593SLC17A5c.169C= (p.Arg57=)
c.118C= (p.Arg40=)
c.-30C= (n.-30C=)
c.61-2605C= (n.61-2605C=)
c.190C= (p.Arg64=)
6g.73644529G>TCA364719193SLC17A5c.169C>A (p.Arg57Ser)
c.118C>A (p.Arg40Ser)
c.-30C>A (n.-30C>A)
c.61-2605C>A (n.61-2605C>A)
c.190C>A (p.Arg64Ser)
6g.73644530T>ACA364719194SLC17A5c.168A>T (p.Leu56Phe)
c.117A>T (p.Leu39Phe)
c.-31A>T (n.-31A>T)
c.61-2606A>T (n.61-2606A>T)
c.189A>T (p.Leu63Phe)
6g.73644530T>CCA450912403SLC17A5c.168A>G (p.Leu56=)
c.117A>G (p.Leu39=)
c.-31A>G (n.-31A>G)
c.61-2606A>G (n.61-2606A>G)
c.189A>G (p.Leu63=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.73644530T>GCA364719195SLC17A5c.168A>C (p.Leu56Phe)
c.117A>C (p.Leu39Phe)
c.-31A>C (n.-31A>C)
c.61-2606A>C (n.61-2606A>C)
c.189A>C (p.Leu63Phe)
6g.73644530T=CA1638225599SLC17A5c.168A= (p.Leu56=)
c.117A= (p.Leu39=)
c.-31A= (n.-31A=)
c.61-2606A= (n.61-2606A=)
c.189A= (p.Leu63=)
6g.73644531A>CCA364719201SLC17A5c.167T>G (p.Leu56Ter)
c.116T>G (p.Leu39Ter)
c.-32T>G (n.-32T>G)
c.61-2607T>G (n.61-2607T>G)
c.188T>G (p.Leu63Ter)
6g.73644531A>GCA364719199SLC17A5c.167T>C (p.Leu56Ser)
c.116T>C (p.Leu39Ser)
c.-32T>C (n.-32T>C)
c.61-2607T>C (n.61-2607T>C)
c.188T>C (p.Leu63Ser)
6g.73644531A>TCA364719197SLC17A5c.167T>A (p.Leu56Ter)
c.116T>A (p.Leu39Ter)
c.-32T>A (n.-32T>A)
c.61-2607T>A (n.61-2607T>A)
c.188T>A (p.Leu63Ter)
6g.73644532A>CCA364719203SLC17A5c.166T>G (p.Leu56Val)
c.115T>G (p.Leu39Val)
c.-33T>G (n.-33T>G)
c.61-2608T>G (n.61-2608T>G)
c.187T>G (p.Leu63Val)
6g.73644532A>GCA450912404SLC17A5c.166T>C (p.Leu56=)
c.115T>C (p.Leu39=)
c.-33T>C (n.-33T>C)
c.61-2608T>C (n.61-2608T>C)
c.187T>C (p.Leu63=)
 gnomAD v4

Number of alleles fetched