Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73621883G>ACA236266SLC17A5c.899C>T (p.Ser300Phe)
c.848C>T (p.Ser283Phe)
c.701C>T (p.Ser234Phe)
c.668C>T (p.Ser223Phe)
c.920C>T (p.Ser307Phe)
c.812C>T (p.Ser271Phe)
c.820-6436C>T (n.820-6436C>T)
c.896C>T (p.Ser299Phe)
c.581C>T (p.Ser194Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621883G>CCA364713527SLC17A5c.899C>G (p.Ser300Cys)
c.848C>G (p.Ser283Cys)
c.701C>G (p.Ser234Cys)
c.668C>G (p.Ser223Cys)
c.920C>G (p.Ser307Cys)
c.812C>G (p.Ser271Cys)
c.820-6436C>G (n.820-6436C>G)
c.896C>G (p.Ser299Cys)
c.581C>G (p.Ser194Cys)
dbSNP
6g.73621883G=CA1638234792SLC17A5c.899C= (p.Ser300=)
c.848C= (p.Ser283=)
c.701C= (p.Ser234=)
c.668C= (p.Ser223=)
c.920C= (p.Ser307=)
c.812C= (p.Ser271=)
c.820-6436C= (n.820-6436C=)
c.896C= (p.Ser299=)
c.581C= (p.Ser194=)
6g.73621883G>TCA364713528SLC17A5c.899C>A (p.Ser300Tyr)
c.848C>A (p.Ser283Tyr)
c.701C>A (p.Ser234Tyr)
c.668C>A (p.Ser223Tyr)
c.920C>A (p.Ser307Tyr)
c.812C>A (p.Ser271Tyr)
c.820-6436C>A (n.820-6436C>A)
c.896C>A (p.Ser299Tyr)
c.581C>A (p.Ser194Tyr)
6g.73621883_73621884insGAAAACA2679404158SLC17A5c.898_899insTTTTC (p.Ser300PhefsTer12)
c.847_848insTTTTC (p.Ser283PhefsTer12)
c.700_701insTTTTC (p.Ser234PhefsTer12)
c.667_668insTTTTC (p.Ser223PhefsTer12)
c.919_920insTTTTC (p.Ser307PhefsTer12)
c.811_812insTTTTC (p.Ser271PhefsTer12)
c.820-6437_820-6436insTTTTC (n.820-6437_820-6436insTTTTC)
c.895_896insTTTTC (p.Ser299PhefsTer12)
c.580_581insTTTTC (p.Ser194PhefsTer12)
gnomAD v4
6g.73621884A>CCA364713534SLC17A5c.898T>G (p.Ser300Ala)
c.847T>G (p.Ser283Ala)
c.700T>G (p.Ser234Ala)
c.667T>G (p.Ser223Ala)
c.919T>G (p.Ser307Ala)
c.811T>G (p.Ser271Ala)
c.820-6437T>G (n.820-6437T>G)
c.895T>G (p.Ser299Ala)
c.580T>G (p.Ser194Ala)
6g.73621884A>GCA364713531SLC17A5c.898T>C (p.Ser300Pro)
c.847T>C (p.Ser283Pro)
c.700T>C (p.Ser234Pro)
c.667T>C (p.Ser223Pro)
c.919T>C (p.Ser307Pro)
c.811T>C (p.Ser271Pro)
c.820-6437T>C (n.820-6437T>C)
c.895T>C (p.Ser299Pro)
c.580T>C (p.Ser194Pro)
gnomAD v4
6g.73621884A>TCA364713533SLC17A5c.898T>A (p.Ser300Thr)
c.847T>A (p.Ser283Thr)
c.700T>A (p.Ser234Thr)
c.667T>A (p.Ser223Thr)
c.919T>A (p.Ser307Thr)
c.811T>A (p.Ser271Thr)
c.820-6437T>A (n.820-6437T>A)
c.895T>A (p.Ser299Thr)
c.580T>A (p.Ser194Thr)
6g.73621885A>CCA364713536SLC17A5c.897T>G (p.Phe299Leu)
c.846T>G (p.Phe282Leu)
c.699T>G (p.Phe233Leu)
c.666T>G (p.Phe222Leu)
c.918T>G (p.Phe306Leu)
c.810T>G (p.Phe270Leu)
c.820-6438T>G (n.820-6438T>G)
c.894T>G (p.Phe298Leu)
c.579T>G (p.Phe193Leu)
6g.73621885A>GCA450910895SLC17A5c.897T>C (p.Phe299=)
c.846T>C (p.Phe282=)
c.699T>C (p.Phe233=)
c.666T>C (p.Phe222=)
c.918T>C (p.Phe306=)
c.810T>C (p.Phe270=)
c.820-6438T>C (n.820-6438T>C)
c.894T>C (p.Phe298=)
c.579T>C (p.Phe193=)
6g.73621885A>TCA364713538SLC17A5c.897T>A (p.Phe299Leu)
c.846T>A (p.Phe282Leu)
c.699T>A (p.Phe233Leu)
c.666T>A (p.Phe222Leu)
c.918T>A (p.Phe306Leu)
c.810T>A (p.Phe270Leu)
c.820-6438T>A (n.820-6438T>A)
c.894T>A (p.Phe298Leu)
c.579T>A (p.Phe193Leu)
gnomAD v4
6g.73621886A>CCA364713541SLC17A5c.896T>G (p.Phe299Cys)
c.845T>G (p.Phe282Cys)
c.698T>G (p.Phe233Cys)
c.665T>G (p.Phe222Cys)
c.917T>G (p.Phe306Cys)
c.809T>G (p.Phe270Cys)
c.820-6439T>G (n.820-6439T>G)
c.893T>G (p.Phe298Cys)
c.578T>G (p.Phe193Cys)
6g.73621886A>GCA364713543SLC17A5c.896T>C (p.Phe299Ser)
c.845T>C (p.Phe282Ser)
c.698T>C (p.Phe233Ser)
c.665T>C (p.Phe222Ser)
c.917T>C (p.Phe306Ser)
c.809T>C (p.Phe270Ser)
c.820-6439T>C (n.820-6439T>C)
c.893T>C (p.Phe298Ser)
c.578T>C (p.Phe193Ser)
6g.73621886A>TCA364713545SLC17A5c.896T>A (p.Phe299Tyr)
c.845T>A (p.Phe282Tyr)
c.698T>A (p.Phe233Tyr)
c.665T>A (p.Phe222Tyr)
c.917T>A (p.Phe306Tyr)
c.809T>A (p.Phe270Tyr)
c.820-6439T>A (n.820-6439T>A)
c.893T>A (p.Phe298Tyr)
c.578T>A (p.Phe193Tyr)
6g.73621887A=CA1638234793SLC17A5c.895T= (p.Phe299=)
c.844T= (p.Phe282=)
c.697T= (p.Phe233=)
c.664T= (p.Phe222=)
c.916T= (p.Phe306=)
c.808T= (p.Phe270=)
c.820-6440T= (n.820-6440T=)
c.892T= (p.Phe298=)
c.577T= (p.Phe193=)
6g.73621887A>CCA364713547SLC17A5c.895T>G (p.Phe299Val)
c.844T>G (p.Phe282Val)
c.697T>G (p.Phe233Val)
c.664T>G (p.Phe222Val)
c.916T>G (p.Phe306Val)
c.808T>G (p.Phe270Val)
c.820-6440T>G (n.820-6440T>G)
c.892T>G (p.Phe298Val)
c.577T>G (p.Phe193Val)
6g.73621887A>GCA3890398SLC17A5c.895T>C (p.Phe299Leu)
c.844T>C (p.Phe282Leu)
c.697T>C (p.Phe233Leu)
c.664T>C (p.Phe222Leu)
c.916T>C (p.Phe306Leu)
c.808T>C (p.Phe270Leu)
c.820-6440T>C (n.820-6440T>C)
c.892T>C (p.Phe298Leu)
c.577T>C (p.Phe193Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73621887A>TCA3890397SLC17A5c.895T>A (p.Phe299Ile)
c.844T>A (p.Phe282Ile)
c.697T>A (p.Phe233Ile)
c.664T>A (p.Phe222Ile)
c.916T>A (p.Phe306Ile)
c.808T>A (p.Phe270Ile)
c.820-6440T>A (n.820-6440T>A)
c.892T>A (p.Phe298Ile)
c.577T>A (p.Phe193Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621888G>ACA450910896SLC17A5c.894C>T (p.His298=)
c.843C>T (p.His281=)
c.696C>T (p.His232=)
c.663C>T (p.His221=)
c.915C>T (p.His305=)
c.807C>T (p.His269=)
c.820-6441C>T (n.820-6441C>T)
c.891C>T (p.His297=)
c.576C>T (p.His192=)
6g.73621888G>CCA364713551SLC17A5c.894C>G (p.His298Gln)
c.843C>G (p.His281Gln)
c.696C>G (p.His232Gln)
c.663C>G (p.His221Gln)
c.915C>G (p.His305Gln)
c.807C>G (p.His269Gln)
c.820-6441C>G (n.820-6441C>G)
c.891C>G (p.His297Gln)
c.576C>G (p.His192Gln)
gnomAD v4
6g.73621888G=CA1638234794SLC17A5c.894C= (p.His298=)
c.843C= (p.His281=)
c.696C= (p.His232=)
c.663C= (p.His221=)
c.915C= (p.His305=)
c.807C= (p.His269=)
c.820-6441C= (n.820-6441C=)
c.891C= (p.His297=)
c.576C= (p.His192=)
6g.73621888G>TCA364713553SLC17A5c.894C>A (p.His298Gln)
c.843C>A (p.His281Gln)
c.696C>A (p.His232Gln)
c.663C>A (p.His221Gln)
c.915C>A (p.His305Gln)
c.807C>A (p.His269Gln)
c.820-6441C>A (n.820-6441C>A)
c.891C>A (p.His297Gln)
c.576C>A (p.His192Gln)
dbSNP gnomAD v2 gnomAD v4
6g.73621889T>ACA364713555SLC17A5c.893A>T (p.His298Leu)
c.842A>T (p.His281Leu)
c.695A>T (p.His232Leu)
c.662A>T (p.His221Leu)
c.914A>T (p.His305Leu)
c.806A>T (p.His269Leu)
c.820-6442A>T (n.820-6442A>T)
c.890A>T (p.His297Leu)
c.575A>T (p.His192Leu)
6g.73621889T>CCA140963153SLC17A5c.893A>G (p.His298Arg)
c.842A>G (p.His281Arg)
c.695A>G (p.His232Arg)
c.662A>G (p.His221Arg)
c.914A>G (p.His305Arg)
c.806A>G (p.His269Arg)
c.820-6442A>G (n.820-6442A>G)
c.890A>G (p.His297Arg)
c.575A>G (p.His192Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73621889T>GCA364713559SLC17A5c.893A>C (p.His298Pro)
c.842A>C (p.His281Pro)
c.695A>C (p.His232Pro)
c.662A>C (p.His221Pro)
c.914A>C (p.His305Pro)
c.806A>C (p.His269Pro)
c.820-6442A>C (n.820-6442A>C)
c.890A>C (p.His297Pro)
c.575A>C (p.His192Pro)
6g.73621889T=CA1638234795SLC17A5c.893A= (p.His298=)
c.842A= (p.His281=)
c.695A= (p.His232=)
c.662A= (p.His221=)
c.914A= (p.His305=)
c.806A= (p.His269=)
c.820-6442A= (n.820-6442A=)
c.890A= (p.His297=)
c.575A= (p.His192=)
6g.73621890G>ACA364713561SLC17A5c.892C>T (p.His298Tyr)
c.841C>T (p.His281Tyr)
c.694C>T (p.His232Tyr)
c.661C>T (p.His221Tyr)
c.913C>T (p.His305Tyr)
c.805C>T (p.His269Tyr)
c.820-6443C>T (n.820-6443C>T)
c.889C>T (p.His297Tyr)
c.574C>T (p.His192Tyr)
gnomAD v4
6g.73621890G>CCA364713563SLC17A5c.892C>G (p.His298Asp)
c.841C>G (p.His281Asp)
c.694C>G (p.His232Asp)
c.661C>G (p.His221Asp)
c.913C>G (p.His305Asp)
c.805C>G (p.His269Asp)
c.820-6443C>G (n.820-6443C>G)
c.889C>G (p.His297Asp)
c.574C>G (p.His192Asp)
6g.73621890G>TCA364713565SLC17A5c.892C>A (p.His298Asn)
c.841C>A (p.His281Asn)
c.694C>A (p.His232Asn)
c.661C>A (p.His221Asn)
c.913C>A (p.His305Asn)
c.805C>A (p.His269Asn)
c.820-6443C>A (n.820-6443C>A)
c.889C>A (p.His297Asn)
c.574C>A (p.His192Asn)
6g.73621891T>ACA450910897SLC17A5c.891A>T (p.Ala297=)
c.840A>T (p.Ala280=)
c.693A>T (p.Ala231=)
c.660A>T (p.Ala220=)
c.912A>T (p.Ala304=)
c.804A>T (p.Ala268=)
c.820-6444A>T (n.820-6444A>T)
c.888A>T (p.Ala296=)
c.573A>T (p.Ala191=)
6g.73621891T>CCA450910898SLC17A5c.891A>G (p.Ala297=)
c.840A>G (p.Ala280=)
c.693A>G (p.Ala231=)
c.660A>G (p.Ala220=)
c.912A>G (p.Ala304=)
c.804A>G (p.Ala268=)
c.820-6444A>G (n.820-6444A>G)
c.888A>G (p.Ala296=)
c.573A>G (p.Ala191=)
6g.73621891T>GCA450910899SLC17A5c.891A>C (p.Ala297=)
c.840A>C (p.Ala280=)
c.693A>C (p.Ala231=)
c.660A>C (p.Ala220=)
c.912A>C (p.Ala304=)
c.804A>C (p.Ala268=)
c.820-6444A>C (n.820-6444A>C)
c.888A>C (p.Ala296=)
c.573A>C (p.Ala191=)
6g.73621892G>ACA3890399SLC17A5c.890C>T (p.Ala297Val)
c.839C>T (p.Ala280Val)
c.692C>T (p.Ala231Val)
c.659C>T (p.Ala220Val)
c.911C>T (p.Ala304Val)
c.803C>T (p.Ala268Val)
c.820-6445C>T (n.820-6445C>T)
c.887C>T (p.Ala296Val)
c.572C>T (p.Ala191Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.73621892G>CCA364713568SLC17A5c.890C>G (p.Ala297Gly)
c.839C>G (p.Ala280Gly)
c.692C>G (p.Ala231Gly)
c.659C>G (p.Ala220Gly)
c.911C>G (p.Ala304Gly)
c.803C>G (p.Ala268Gly)
c.820-6445C>G (n.820-6445C>G)
c.887C>G (p.Ala296Gly)
c.572C>G (p.Ala191Gly)
6g.73621892G=CA1638234796SLC17A5c.890C= (p.Ala297=)
c.839C= (p.Ala280=)
c.692C= (p.Ala231=)
c.659C= (p.Ala220=)
c.911C= (p.Ala304=)
c.803C= (p.Ala268=)
c.820-6445C= (n.820-6445C=)
c.887C= (p.Ala296=)
c.572C= (p.Ala191=)
6g.73621892G>TCA364713571SLC17A5c.890C>A (p.Ala297Glu)
c.839C>A (p.Ala280Glu)
c.692C>A (p.Ala231Glu)
c.659C>A (p.Ala220Glu)
c.911C>A (p.Ala304Glu)
c.803C>A (p.Ala268Glu)
c.820-6445C>A (n.820-6445C>A)
c.887C>A (p.Ala296Glu)
c.572C>A (p.Ala191Glu)
6g.73621893C>ACA364713575SLC17A5c.889G>T (p.Ala297Ser)
c.838G>T (p.Ala280Ser)
c.691G>T (p.Ala231Ser)
c.658G>T (p.Ala220Ser)
c.910G>T (p.Ala304Ser)
c.802G>T (p.Ala268Ser)
c.820-6446G>T (n.820-6446G>T)
c.886G>T (p.Ala296Ser)
c.571G>T (p.Ala191Ser)
gnomAD v4
6g.73621893C>GCA364713576SLC17A5c.889G>C (p.Ala297Pro)
c.838G>C (p.Ala280Pro)
c.691G>C (p.Ala231Pro)
c.658G>C (p.Ala220Pro)
c.910G>C (p.Ala304Pro)
c.802G>C (p.Ala268Pro)
c.820-6446G>C (n.820-6446G>C)
c.886G>C (p.Ala296Pro)
c.571G>C (p.Ala191Pro)
6g.73621893C>TCA364713573SLC17A5c.889G>A (p.Ala297Thr)
c.838G>A (p.Ala280Thr)
c.691G>A (p.Ala231Thr)
c.658G>A (p.Ala220Thr)
c.910G>A (p.Ala304Thr)
c.802G>A (p.Ala268Thr)
c.820-6446G>A (n.820-6446G>A)
c.886G>A (p.Ala296Thr)
c.571G>A (p.Ala191Thr)
6g.73621894A>CCA450910901SLC17A5c.888T>G (p.Val296=)
c.837T>G (p.Val279=)
c.690T>G (p.Val230=)
c.657T>G (p.Val219=)
c.909T>G (p.Val303=)
c.801T>G (p.Val267=)
c.820-6447T>G (n.820-6447T>G)
c.885T>G (p.Val295=)
c.570T>G (p.Val190=)
6g.73621894A>GCA450910902SLC17A5c.888T>C (p.Val296=)
c.837T>C (p.Val279=)
c.690T>C (p.Val230=)
c.657T>C (p.Val219=)
c.909T>C (p.Val303=)
c.801T>C (p.Val267=)
c.820-6447T>C (n.820-6447T>C)
c.885T>C (p.Val295=)
c.570T>C (p.Val190=)
6g.73621894A>TCA450910900SLC17A5c.888T>A (p.Val296=)
c.837T>A (p.Val279=)
c.690T>A (p.Val230=)
c.657T>A (p.Val219=)
c.909T>A (p.Val303=)
c.801T>A (p.Val267=)
c.820-6447T>A (n.820-6447T>A)
c.885T>A (p.Val295=)
c.570T>A (p.Val190=)
6g.73621895A>CCA364713579SLC17A5c.887T>G (p.Val296Gly)
c.836T>G (p.Val279Gly)
c.689T>G (p.Val230Gly)
c.656T>G (p.Val219Gly)
c.908T>G (p.Val303Gly)
c.800T>G (p.Val267Gly)
c.820-6448T>G (n.820-6448T>G)
c.884T>G (p.Val295Gly)
c.569T>G (p.Val190Gly)
6g.73621895A>GCA364713583SLC17A5c.887T>C (p.Val296Ala)
c.836T>C (p.Val279Ala)
c.689T>C (p.Val230Ala)
c.656T>C (p.Val219Ala)
c.908T>C (p.Val303Ala)
c.800T>C (p.Val267Ala)
c.820-6448T>C (n.820-6448T>C)
c.884T>C (p.Val295Ala)
c.569T>C (p.Val190Ala)
COSMIC
6g.73621895A>TCA364713581SLC17A5c.887T>A (p.Val296Asp)
c.836T>A (p.Val279Asp)
c.689T>A (p.Val230Asp)
c.656T>A (p.Val219Asp)
c.908T>A (p.Val303Asp)
c.800T>A (p.Val267Asp)
c.820-6448T>A (n.820-6448T>A)
c.884T>A (p.Val295Asp)
c.569T>A (p.Val190Asp)
6g.73621896C>ACA364713585SLC17A5c.886G>T (p.Val296Phe)
c.835G>T (p.Val279Phe)
c.688G>T (p.Val230Phe)
c.655G>T (p.Val219Phe)
c.907G>T (p.Val303Phe)
c.799G>T (p.Val267Phe)
c.820-6449G>T (n.820-6449G>T)
c.883G>T (p.Val295Phe)
c.568G>T (p.Val190Phe)
6g.73621896C=CA1638234797SLC17A5c.886G= (p.Val296=)
c.835G= (p.Val279=)
c.688G= (p.Val230=)
c.655G= (p.Val219=)
c.907G= (p.Val303=)
c.799G= (p.Val267=)
c.820-6449G= (n.820-6449G=)
c.883G= (p.Val295=)
c.568G= (p.Val190=)
6g.73621896C>GCA364713588SLC17A5c.886G>C (p.Val296Leu)
c.835G>C (p.Val279Leu)
c.688G>C (p.Val230Leu)
c.655G>C (p.Val219Leu)
c.907G>C (p.Val303Leu)
c.799G>C (p.Val267Leu)
c.820-6449G>C (n.820-6449G>C)
c.883G>C (p.Val295Leu)
c.568G>C (p.Val190Leu)
6g.73621896C>TCA203496SLC17A5c.886G>A (p.Val296Ile)
c.835G>A (p.Val279Ile)
c.688G>A (p.Val230Ile)
c.655G>A (p.Val219Ile)
c.907G>A (p.Val303Ile)
c.799G>A (p.Val267Ile)
c.820-6449G>A (n.820-6449G>A)
c.883G>A (p.Val295Ile)
c.568G>A (p.Val190Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621897T>ACA450910905SLC17A5c.885A>T (p.Val295=)
c.834A>T (p.Val278=)
c.687A>T (p.Val229=)
c.654A>T (p.Val218=)
c.906A>T (p.Val302=)
c.798A>T (p.Val266=)
c.820-6450A>T (n.820-6450A>T)
c.882A>T (p.Val294=)
c.567A>T (p.Val189=)

Number of alleles fetched