Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73621807_73621819delCA2573141127SLC17A5c.964_976del (p.Phe322ArgfsTer11)
c.913_925del (p.Phe305ArgfsTer11)
c.766_778del (p.Phe256ArgfsTer11)
c.733_745del (p.Phe245ArgfsTer11)
c.985_997del (p.Phe329ArgfsTer11)
c.877_889del (p.Phe293ArgfsTer11)
c.820-6371_820-6359del (n.820-6371_820-6359del)
c.961_973del (p.Phe321ArgfsTer11)
c.646_658del (p.Phe216ArgfsTer11)
 ClinVar dbSNP
6g.73621812C>ACA364713181SLC17A5c.970G>T (p.Val324Phe)
c.919G>T (p.Val307Phe)
c.772G>T (p.Val258Phe)
c.739G>T (p.Val247Phe)
c.991G>T (p.Val331Phe)
c.883G>T (p.Val295Phe)
c.820-6365G>T (n.820-6365G>T)
c.967G>T (p.Val323Phe)
c.652G>T (p.Val218Phe)
6g.73621812C>GCA364713182SLC17A5c.970G>C (p.Val324Leu)
c.919G>C (p.Val307Leu)
c.772G>C (p.Val258Leu)
c.739G>C (p.Val247Leu)
c.991G>C (p.Val331Leu)
c.883G>C (p.Val295Leu)
c.820-6365G>C (n.820-6365G>C)
c.967G>C (p.Val323Leu)
c.652G>C (p.Val218Leu)
6g.73621812C>TCA364713183SLC17A5c.970G>A (p.Val324Ile)
c.919G>A (p.Val307Ile)
c.772G>A (p.Val258Ile)
c.739G>A (p.Val247Ile)
c.991G>A (p.Val331Ile)
c.883G>A (p.Val295Ile)
c.820-6365G>A (n.820-6365G>A)
c.967G>A (p.Val323Ile)
c.652G>A (p.Val218Ile)
6g.73621813A>CCA364713184SLC17A5c.969T>G (p.Asn323Lys)
c.918T>G (p.Asn306Lys)
c.771T>G (p.Asn257Lys)
c.738T>G (p.Asn246Lys)
c.990T>G (p.Asn330Lys)
c.882T>G (p.Asn294Lys)
c.820-6366T>G (n.820-6366T>G)
c.966T>G (p.Asn322Lys)
c.651T>G (p.Asn217Lys)
6g.73621813A>GCA450910855SLC17A5c.969T>C (p.Asn323=)
c.918T>C (p.Asn306=)
c.771T>C (p.Asn257=)
c.738T>C (p.Asn246=)
c.990T>C (p.Asn330=)
c.882T>C (p.Asn294=)
c.820-6366T>C (n.820-6366T>C)
c.966T>C (p.Asn322=)
c.651T>C (p.Asn217=)
 gnomAD v4
6g.73621813A>TCA364713185SLC17A5c.969T>A (p.Asn323Lys)
c.918T>A (p.Asn306Lys)
c.771T>A (p.Asn257Lys)
c.738T>A (p.Asn246Lys)
c.990T>A (p.Asn330Lys)
c.882T>A (p.Asn294Lys)
c.820-6366T>A (n.820-6366T>A)
c.966T>A (p.Asn322Lys)
c.651T>A (p.Asn217Lys)
6g.73621814T>ACA364713186SLC17A5c.968A>T (p.Asn323Ile)
c.917A>T (p.Asn306Ile)
c.770A>T (p.Asn257Ile)
c.737A>T (p.Asn246Ile)
c.989A>T (p.Asn330Ile)
c.881A>T (p.Asn294Ile)
c.820-6367A>T (n.820-6367A>T)
c.965A>T (p.Asn322Ile)
c.650A>T (p.Asn217Ile)
6g.73621814T>CCA3890388SLC17A5c.968A>G (p.Asn323Ser)
c.917A>G (p.Asn306Ser)
c.770A>G (p.Asn257Ser)
c.737A>G (p.Asn246Ser)
c.989A>G (p.Asn330Ser)
c.881A>G (p.Asn294Ser)
c.820-6367A>G (n.820-6367A>G)
c.965A>G (p.Asn322Ser)
c.650A>G (p.Asn217Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621814T>GCA364713187SLC17A5c.968A>C (p.Asn323Thr)
c.917A>C (p.Asn306Thr)
c.770A>C (p.Asn257Thr)
c.737A>C (p.Asn246Thr)
c.989A>C (p.Asn330Thr)
c.881A>C (p.Asn294Thr)
c.820-6367A>C (n.820-6367A>C)
c.965A>C (p.Asn322Thr)
c.650A>C (p.Asn217Thr)
6g.73621814T=CA1638234767SLC17A5c.968A= (p.Asn323=)
c.917A= (p.Asn306=)
c.770A= (p.Asn257=)
c.737A= (p.Asn246=)
c.989A= (p.Asn330=)
c.881A= (p.Asn294=)
c.820-6367A= (n.820-6367A=)
c.965A= (p.Asn322=)
c.650A= (p.Asn217=)
6g.73621815T>ACA364713188SLC17A5c.967A>T (p.Asn323Tyr)
c.916A>T (p.Asn306Tyr)
c.769A>T (p.Asn257Tyr)
c.736A>T (p.Asn246Tyr)
c.988A>T (p.Asn330Tyr)
c.880A>T (p.Asn294Tyr)
c.820-6368A>T (n.820-6368A>T)
c.964A>T (p.Asn322Tyr)
c.649A>T (p.Asn217Tyr)
6g.73621815T>CCA364713190SLC17A5c.967A>G (p.Asn323Asp)
c.916A>G (p.Asn306Asp)
c.769A>G (p.Asn257Asp)
c.736A>G (p.Asn246Asp)
c.988A>G (p.Asn330Asp)
c.880A>G (p.Asn294Asp)
c.820-6368A>G (n.820-6368A>G)
c.964A>G (p.Asn322Asp)
c.649A>G (p.Asn217Asp)
6g.73621815T>GCA364713191SLC17A5c.967A>C (p.Asn323His)
c.916A>C (p.Asn306His)
c.769A>C (p.Asn257His)
c.736A>C (p.Asn246His)
c.988A>C (p.Asn330His)
c.880A>C (p.Asn294His)
c.820-6368A>C (n.820-6368A>C)
c.964A>C (p.Asn322His)
c.649A>C (p.Asn217His)
6g.73621816G>ACA450910856SLC17A5c.966C>T (p.Phe322=)
c.915C>T (p.Phe305=)
c.768C>T (p.Phe256=)
c.735C>T (p.Phe245=)
c.987C>T (p.Phe329=)
c.879C>T (p.Phe293=)
c.820-6369C>T (n.820-6369C>T)
c.963C>T (p.Phe321=)
c.648C>T (p.Phe216=)
 dbSNP
6g.73621816G>CCA364713192SLC17A5c.966C>G (p.Phe322Leu)
c.915C>G (p.Phe305Leu)
c.768C>G (p.Phe256Leu)
c.735C>G (p.Phe245Leu)
c.987C>G (p.Phe329Leu)
c.879C>G (p.Phe293Leu)
c.820-6369C>G (n.820-6369C>G)
c.963C>G (p.Phe321Leu)
c.648C>G (p.Phe216Leu)
6g.73621816G=CA1638234768SLC17A5c.966C= (p.Phe322=)
c.915C= (p.Phe305=)
c.768C= (p.Phe256=)
c.735C= (p.Phe245=)
c.987C= (p.Phe329=)
c.879C= (p.Phe293=)
c.820-6369C= (n.820-6369C=)
c.963C= (p.Phe321=)
c.648C= (p.Phe216=)
6g.73621816G>TCA364713193SLC17A5c.966C>A (p.Phe322Leu)
c.915C>A (p.Phe305Leu)
c.768C>A (p.Phe256Leu)
c.735C>A (p.Phe245Leu)
c.987C>A (p.Phe329Leu)
c.879C>A (p.Phe293Leu)
c.820-6369C>A (n.820-6369C>A)
c.963C>A (p.Phe321Leu)
c.648C>A (p.Phe216Leu)
 gnomAD v4
6g.73621817A>CCA364713195SLC17A5c.965T>G (p.Phe322Cys)
c.914T>G (p.Phe305Cys)
c.767T>G (p.Phe256Cys)
c.734T>G (p.Phe245Cys)
c.986T>G (p.Phe329Cys)
c.878T>G (p.Phe293Cys)
c.820-6370T>G (n.820-6370T>G)
c.962T>G (p.Phe321Cys)
c.647T>G (p.Phe216Cys)
6g.73621817A>GCA364713197SLC17A5c.965T>C (p.Phe322Ser)
c.914T>C (p.Phe305Ser)
c.767T>C (p.Phe256Ser)
c.734T>C (p.Phe245Ser)
c.986T>C (p.Phe329Ser)
c.878T>C (p.Phe293Ser)
c.820-6370T>C (n.820-6370T>C)
c.962T>C (p.Phe321Ser)
c.647T>C (p.Phe216Ser)
 COSMIC
6g.73621817A>TCA364713196SLC17A5c.965T>A (p.Phe322Tyr)
c.914T>A (p.Phe305Tyr)
c.767T>A (p.Phe256Tyr)
c.734T>A (p.Phe245Tyr)
c.986T>A (p.Phe329Tyr)
c.878T>A (p.Phe293Tyr)
c.820-6370T>A (n.820-6370T>A)
c.962T>A (p.Phe321Tyr)
c.647T>A (p.Phe216Tyr)
6g.73621818A>CCA364713200SLC17A5c.964T>G (p.Phe322Val)
c.913T>G (p.Phe305Val)
c.766T>G (p.Phe256Val)
c.733T>G (p.Phe245Val)
c.985T>G (p.Phe329Val)
c.877T>G (p.Phe293Val)
c.820-6371T>G (n.820-6371T>G)
c.961T>G (p.Phe321Val)
c.646T>G (p.Phe216Val)
6g.73621818A>GCA364713202SLC17A5c.964T>C (p.Phe322Leu)
c.913T>C (p.Phe305Leu)
c.766T>C (p.Phe256Leu)
c.733T>C (p.Phe245Leu)
c.985T>C (p.Phe329Leu)
c.877T>C (p.Phe293Leu)
c.820-6371T>C (n.820-6371T>C)
c.961T>C (p.Phe321Leu)
c.646T>C (p.Phe216Leu)
6g.73621818A>TCA364713204SLC17A5c.964T>A (p.Phe322Ile)
c.913T>A (p.Phe305Ile)
c.766T>A (p.Phe256Ile)
c.733T>A (p.Phe245Ile)
c.985T>A (p.Phe329Ile)
c.877T>A (p.Phe293Ile)
c.820-6371T>A (n.820-6371T>A)
c.961T>A (p.Phe321Ile)
c.646T>A (p.Phe216Ile)
6g.73621819C>ACA364713207SLC17A5c.963G>T (p.Arg321Ser)
c.912G>T (p.Arg304Ser)
c.765G>T (p.Arg255Ser)
c.732G>T (p.Arg244Ser)
c.984G>T (p.Arg328Ser)
c.876G>T (p.Arg292Ser)
c.820-6372G>T (n.820-6372G>T)
c.960G>T (p.Arg320Ser)
c.645G>T (p.Arg215Ser)
 gnomAD v4
6g.73621819C=CA1638234769SLC17A5c.963G= (p.Arg321=)
c.912G= (p.Arg304=)
c.765G= (p.Arg255=)
c.732G= (p.Arg244=)
c.984G= (p.Arg328=)
c.876G= (p.Arg292=)
c.820-6372G= (n.820-6372G=)
c.960G= (p.Arg320=)
c.645G= (p.Arg215=)
6g.73621819C>GCA364713208SLC17A5c.963G>C (p.Arg321Ser)
c.912G>C (p.Arg304Ser)
c.765G>C (p.Arg255Ser)
c.732G>C (p.Arg244Ser)
c.984G>C (p.Arg328Ser)
c.876G>C (p.Arg292Ser)
c.820-6372G>C (n.820-6372G>C)
c.960G>C (p.Arg320Ser)
c.645G>C (p.Arg215Ser)
6g.73621819C>TCA450910857SLC17A5c.963G>A (p.Arg321=)
c.912G>A (p.Arg304=)
c.765G>A (p.Arg255=)
c.732G>A (p.Arg244=)
c.984G>A (p.Arg328=)
c.876G>A (p.Arg292=)
c.820-6372G>A (n.820-6372G>A)
c.960G>A (p.Arg320=)
c.645G>A (p.Arg215=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.73621820C>ACA364713212SLC17A5c.962G>T (p.Arg321Met)
c.911G>T (p.Arg304Met)
c.764G>T (p.Arg255Met)
c.731G>T (p.Arg244Met)
c.983G>T (p.Arg328Met)
c.875G>T (p.Arg292Met)
c.820-6373G>T (n.820-6373G>T)
c.959G>T (p.Arg320Met)
c.644G>T (p.Arg215Met)
6g.73621820C>GCA364713214SLC17A5c.962G>C (p.Arg321Thr)
c.911G>C (p.Arg304Thr)
c.764G>C (p.Arg255Thr)
c.731G>C (p.Arg244Thr)
c.983G>C (p.Arg328Thr)
c.875G>C (p.Arg292Thr)
c.820-6373G>C (n.820-6373G>C)
c.959G>C (p.Arg320Thr)
c.644G>C (p.Arg215Thr)
6g.73621820C>TCA364713216SLC17A5c.962G>A (p.Arg321Lys)
c.911G>A (p.Arg304Lys)
c.764G>A (p.Arg255Lys)
c.731G>A (p.Arg244Lys)
c.983G>A (p.Arg328Lys)
c.875G>A (p.Arg292Lys)
c.820-6373G>A (n.820-6373G>A)
c.959G>A (p.Arg320Lys)
c.644G>A (p.Arg215Lys)
6g.73621821T>ACA364713218SLC17A5c.961A>T (p.Arg321Trp)
c.910A>T (p.Arg304Trp)
c.763A>T (p.Arg255Trp)
c.730A>T (p.Arg244Trp)
c.982A>T (p.Arg328Trp)
c.874A>T (p.Arg292Trp)
c.820-6374A>T (n.820-6374A>T)
c.958A>T (p.Arg320Trp)
c.643A>T (p.Arg215Trp)
6g.73621821T>CCA364713220SLC17A5c.961A>G (p.Arg321Gly)
c.910A>G (p.Arg304Gly)
c.763A>G (p.Arg255Gly)
c.730A>G (p.Arg244Gly)
c.982A>G (p.Arg328Gly)
c.874A>G (p.Arg292Gly)
c.820-6374A>G (n.820-6374A>G)
c.958A>G (p.Arg320Gly)
c.643A>G (p.Arg215Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73621821T>GCA450910858SLC17A5c.961A>C (p.Arg321=)
c.910A>C (p.Arg304=)
c.763A>C (p.Arg255=)
c.730A>C (p.Arg244=)
c.982A>C (p.Arg328=)
c.874A>C (p.Arg292=)
c.820-6374A>C (n.820-6374A>C)
c.958A>C (p.Arg320=)
c.643A>C (p.Arg215=)
6g.73621821T=CA1638234770SLC17A5c.961A= (p.Arg321=)
c.910A= (p.Arg304=)
c.763A= (p.Arg255=)
c.730A= (p.Arg244=)
c.982A= (p.Arg328=)
c.874A= (p.Arg292=)
c.820-6374A= (n.820-6374A=)
c.958A= (p.Arg320=)
c.643A= (p.Arg215=)
6g.73621822delCA2679404157SLC17A5c.961del (p.Arg321GlyfsTer16)
c.910del (p.Arg304GlyfsTer16)
c.763del (p.Arg255GlyfsTer16)
c.730del (p.Arg244GlyfsTer16)
c.982del (p.Arg328GlyfsTer16)
c.874del (p.Arg292GlyfsTer16)
c.820-6374del (n.820-6374del)
c.958del (p.Arg320GlyfsTer16)
c.643del (p.Arg215GlyfsTer16)
 gnomAD v4
6g.73621822T>ACA450910859SLC17A5c.960A>T (p.Leu320=)
c.909A>T (p.Leu303=)
c.762A>T (p.Leu254=)
c.729A>T (p.Leu243=)
c.981A>T (p.Leu327=)
c.873A>T (p.Leu291=)
c.820-6375A>T (n.820-6375A>T)
c.957A>T (p.Leu319=)
c.642A>T (p.Leu214=)
6g.73621822T>CCA450910860SLC17A5c.960A>G (p.Leu320=)
c.909A>G (p.Leu303=)
c.762A>G (p.Leu254=)
c.729A>G (p.Leu243=)
c.981A>G (p.Leu327=)
c.873A>G (p.Leu291=)
c.820-6375A>G (n.820-6375A>G)
c.957A>G (p.Leu319=)
c.642A>G (p.Leu214=)
6g.73621822T>GCA450910861SLC17A5c.960A>C (p.Leu320=)
c.909A>C (p.Leu303=)
c.762A>C (p.Leu254=)
c.729A>C (p.Leu243=)
c.981A>C (p.Leu327=)
c.873A>C (p.Leu291=)
c.820-6375A>C (n.820-6375A>C)
c.957A>C (p.Leu319=)
c.642A>C (p.Leu214=)
6g.73621823A>CCA364713226SLC17A5c.959T>G (p.Leu320Arg)
c.908T>G (p.Leu303Arg)
c.761T>G (p.Leu254Arg)
c.728T>G (p.Leu243Arg)
c.980T>G (p.Leu327Arg)
c.872T>G (p.Leu291Arg)
c.820-6376T>G (n.820-6376T>G)
c.956T>G (p.Leu319Arg)
c.641T>G (p.Leu214Arg)
6g.73621823A>GCA364713224SLC17A5c.959T>C (p.Leu320Pro)
c.908T>C (p.Leu303Pro)
c.761T>C (p.Leu254Pro)
c.728T>C (p.Leu243Pro)
c.980T>C (p.Leu327Pro)
c.872T>C (p.Leu291Pro)
c.820-6376T>C (n.820-6376T>C)
c.956T>C (p.Leu319Pro)
c.641T>C (p.Leu214Pro)
 gnomAD v4
6g.73621823A>TCA364713222SLC17A5c.959T>A (p.Leu320Gln)
c.908T>A (p.Leu303Gln)
c.761T>A (p.Leu254Gln)
c.728T>A (p.Leu243Gln)
c.980T>A (p.Leu327Gln)
c.872T>A (p.Leu291Gln)
c.820-6376T>A (n.820-6376T>A)
c.956T>A (p.Leu319Gln)
c.641T>A (p.Leu214Gln)
6g.73621824G>ACA450910862SLC17A5c.958C>T (p.Leu320=)
c.907C>T (p.Leu303=)
c.760C>T (p.Leu254=)
c.727C>T (p.Leu243=)
c.979C>T (p.Leu327=)
c.871C>T (p.Leu291=)
c.820-6377C>T (n.820-6377C>T)
c.955C>T (p.Leu319=)
c.640C>T (p.Leu214=)
6g.73621824G>CCA364713228SLC17A5c.958C>G (p.Leu320Val)
c.907C>G (p.Leu303Val)
c.760C>G (p.Leu254Val)
c.727C>G (p.Leu243Val)
c.979C>G (p.Leu327Val)
c.871C>G (p.Leu291Val)
c.820-6377C>G (n.820-6377C>G)
c.955C>G (p.Leu319Val)
c.640C>G (p.Leu214Val)
6g.73621824G>TCA364713230SLC17A5c.958C>A (p.Leu320Ile)
c.907C>A (p.Leu303Ile)
c.760C>A (p.Leu254Ile)
c.727C>A (p.Leu243Ile)
c.979C>A (p.Leu327Ile)
c.871C>A (p.Leu291Ile)
c.820-6377C>A (n.820-6377C>A)
c.955C>A (p.Leu319Ile)
c.640C>A (p.Leu214Ile)
6g.73621825G>ACA450910863SLC17A5c.957C>T (p.Ile319=)
c.906C>T (p.Ile302=)
c.759C>T (p.Ile253=)
c.726C>T (p.Ile242=)
c.978C>T (p.Ile326=)
c.870C>T (p.Ile290=)
c.820-6378C>T (n.820-6378C>T)
c.954C>T (p.Ile318=)
c.639C>T (p.Ile213=)
6g.73621825G>CCA364713232SLC17A5c.957C>G (p.Ile319Met)
c.906C>G (p.Ile302Met)
c.759C>G (p.Ile253Met)
c.726C>G (p.Ile242Met)
c.978C>G (p.Ile326Met)
c.870C>G (p.Ile290Met)
c.820-6378C>G (n.820-6378C>G)
c.954C>G (p.Ile318Met)
c.639C>G (p.Ile213Met)
6g.73621825G=CA1638234771SLC17A5c.957C= (p.Ile319=)
c.906C= (p.Ile302=)
c.759C= (p.Ile253=)
c.726C= (p.Ile242=)
c.978C= (p.Ile326=)
c.870C= (p.Ile290=)
c.820-6378C= (n.820-6378C=)
c.954C= (p.Ile318=)
c.639C= (p.Ile213=)
6g.73621825G>TCA3890389SLC17A5c.957C>A (p.Ile319=)
c.906C>A (p.Ile302=)
c.759C>A (p.Ile253=)
c.726C>A (p.Ile242=)
c.978C>A (p.Ile326=)
c.870C>A (p.Ile290=)
c.820-6378C>A (n.820-6378C>A)
c.954C>A (p.Ile318=)
c.639C>A (p.Ile213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621826A>CCA364713235SLC17A5c.956T>G (p.Ile319Ser)
c.905T>G (p.Ile302Ser)
c.758T>G (p.Ile253Ser)
c.725T>G (p.Ile242Ser)
c.977T>G (p.Ile326Ser)
c.869T>G (p.Ile290Ser)
c.820-6379T>G (n.820-6379T>G)
c.953T>G (p.Ile318Ser)
c.638T>G (p.Ile213Ser)
6g.73621826A>GCA364713237SLC17A5c.956T>C (p.Ile319Thr)
c.905T>C (p.Ile302Thr)
c.758T>C (p.Ile253Thr)
c.725T>C (p.Ile242Thr)
c.977T>C (p.Ile326Thr)
c.869T>C (p.Ile290Thr)
c.820-6379T>C (n.820-6379T>C)
c.953T>C (p.Ile318Thr)
c.638T>C (p.Ile213Thr)
6g.73621826A>TCA364713239SLC17A5c.956T>A (p.Ile319Asn)
c.905T>A (p.Ile302Asn)
c.758T>A (p.Ile253Asn)
c.725T>A (p.Ile242Asn)
c.977T>A (p.Ile326Asn)
c.869T>A (p.Ile290Asn)
c.820-6379T>A (n.820-6379T>A)
c.953T>A (p.Ile318Asn)
c.638T>A (p.Ile213Asn)
6g.73621827T>ACA364713243SLC17A5c.955A>T (p.Ile319Phe)
c.904A>T (p.Ile302Phe)
c.757A>T (p.Ile253Phe)
c.724A>T (p.Ile242Phe)
c.976A>T (p.Ile326Phe)
c.868A>T (p.Ile290Phe)
c.820-6380A>T (n.820-6380A>T)
c.952A>T (p.Ile318Phe)
c.637A>T (p.Ile213Phe)
6g.73621827T>CCA364713245SLC17A5c.955A>G (p.Ile319Val)
c.904A>G (p.Ile302Val)
c.757A>G (p.Ile253Val)
c.724A>G (p.Ile242Val)
c.976A>G (p.Ile326Val)
c.868A>G (p.Ile290Val)
c.820-6380A>G (n.820-6380A>G)
c.952A>G (p.Ile318Val)
c.637A>G (p.Ile213Val)
6g.73621827T>GCA364713247SLC17A5c.955A>C (p.Ile319Leu)
c.904A>C (p.Ile302Leu)
c.757A>C (p.Ile253Leu)
c.724A>C (p.Ile242Leu)
c.976A>C (p.Ile326Leu)
c.868A>C (p.Ile290Leu)
c.820-6380A>C (n.820-6380A>C)
c.952A>C (p.Ile318Leu)
c.637A>C (p.Ile213Leu)
6g.73621828C>ACA364713249SLC17A5c.954G>T (p.Glu318Asp)
c.903G>T (p.Glu301Asp)
c.756G>T (p.Glu252Asp)
c.723G>T (p.Glu241Asp)
c.975G>T (p.Glu325Asp)
c.867G>T (p.Glu289Asp)
c.820-6381G>T (n.820-6381G>T)
c.951G>T (p.Glu317Asp)
c.636G>T (p.Glu212Asp)
6g.73621828C>GCA364713251SLC17A5c.954G>C (p.Glu318Asp)
c.903G>C (p.Glu301Asp)
c.756G>C (p.Glu252Asp)
c.723G>C (p.Glu241Asp)
c.975G>C (p.Glu325Asp)
c.867G>C (p.Glu289Asp)
c.820-6381G>C (n.820-6381G>C)
c.951G>C (p.Glu317Asp)
c.636G>C (p.Glu212Asp)
6g.73621828C>TCA450910864SLC17A5c.954G>A (p.Glu318=)
c.903G>A (p.Glu301=)
c.756G>A (p.Glu252=)
c.723G>A (p.Glu241=)
c.975G>A (p.Glu325=)
c.867G>A (p.Glu289=)
c.820-6381G>A (n.820-6381G>A)
c.951G>A (p.Glu317=)
c.636G>A (p.Glu212=)
 ClinVar
6g.73621829T>ACA364713255SLC17A5c.953A>T (p.Glu318Val)
c.902A>T (p.Glu301Val)
c.755A>T (p.Glu252Val)
c.722A>T (p.Glu241Val)
c.974A>T (p.Glu325Val)
c.866A>T (p.Glu289Val)
c.820-6382A>T (n.820-6382A>T)
c.950A>T (p.Glu317Val)
c.635A>T (p.Glu212Val)
6g.73621829T>CCA364713257SLC17A5c.953A>G (p.Glu318Gly)
c.902A>G (p.Glu301Gly)
c.755A>G (p.Glu252Gly)
c.722A>G (p.Glu241Gly)
c.974A>G (p.Glu325Gly)
c.866A>G (p.Glu289Gly)
c.820-6382A>G (n.820-6382A>G)
c.950A>G (p.Glu317Gly)
c.635A>G (p.Glu212Gly)
 gnomAD v4
6g.73621829T>GCA364713253SLC17A5c.953A>C (p.Glu318Ala)
c.902A>C (p.Glu301Ala)
c.755A>C (p.Glu252Ala)
c.722A>C (p.Glu241Ala)
c.974A>C (p.Glu325Ala)
c.866A>C (p.Glu289Ala)
c.820-6382A>C (n.820-6382A>C)
c.950A>C (p.Glu317Ala)
c.635A>C (p.Glu212Ala)
 gnomAD v4
6g.73621830C>ACA364713260SLC17A5c.952G>T (p.Glu318Ter)
c.901G>T (p.Glu301Ter)
c.754G>T (p.Glu252Ter)
c.721G>T (p.Glu241Ter)
c.973G>T (p.Glu325Ter)
c.865G>T (p.Glu289Ter)
c.820-6383G>T (n.820-6383G>T)
c.949G>T (p.Glu317Ter)
c.634G>T (p.Glu212Ter)
 ClinVar
6g.73621830C>GCA364713262SLC17A5c.952G>C (p.Glu318Gln)
c.901G>C (p.Glu301Gln)
c.754G>C (p.Glu252Gln)
c.721G>C (p.Glu241Gln)
c.973G>C (p.Glu325Gln)
c.865G>C (p.Glu289Gln)
c.820-6383G>C (n.820-6383G>C)
c.949G>C (p.Glu317Gln)
c.634G>C (p.Glu212Gln)
6g.73621830C>TCA364713264SLC17A5c.952G>A (p.Glu318Lys)
c.901G>A (p.Glu301Lys)
c.754G>A (p.Glu252Lys)
c.721G>A (p.Glu241Lys)
c.973G>A (p.Glu325Lys)
c.865G>A (p.Glu289Lys)
c.820-6383G>A (n.820-6383G>A)
c.949G>A (p.Glu317Lys)
c.634G>A (p.Glu212Lys)
 gnomAD v4
6g.73621831C>ACA364713266SLC17A5c.951G>T (p.Lys317Asn)
c.900G>T (p.Lys300Asn)
c.753G>T (p.Lys251Asn)
c.720G>T (p.Lys240Asn)
c.972G>T (p.Lys324Asn)
c.864G>T (p.Lys288Asn)
c.820-6384G>T (n.820-6384G>T)
c.948G>T (p.Lys316Asn)
c.633G>T (p.Lys211Asn)
6g.73621831C>GCA364713267SLC17A5c.951G>C (p.Lys317Asn)
c.900G>C (p.Lys300Asn)
c.753G>C (p.Lys251Asn)
c.720G>C (p.Lys240Asn)
c.972G>C (p.Lys324Asn)
c.864G>C (p.Lys288Asn)
c.820-6384G>C (n.820-6384G>C)
c.948G>C (p.Lys316Asn)
c.633G>C (p.Lys211Asn)
6g.73621831C>TCA450910865SLC17A5c.951G>A (p.Lys317=)
c.900G>A (p.Lys300=)
c.753G>A (p.Lys251=)
c.720G>A (p.Lys240=)
c.972G>A (p.Lys324=)
c.864G>A (p.Lys288=)
c.820-6384G>A (n.820-6384G>A)
c.948G>A (p.Lys316=)
c.633G>A (p.Lys211=)
6g.73621832T>ACA364713272SLC17A5c.950A>T (p.Lys317Met)
c.899A>T (p.Lys300Met)
c.752A>T (p.Lys251Met)
c.719A>T (p.Lys240Met)
c.971A>T (p.Lys324Met)
c.863A>T (p.Lys288Met)
c.820-6385A>T (n.820-6385A>T)
c.947A>T (p.Lys316Met)
c.632A>T (p.Lys211Met)
6g.73621832T>CCA364713270SLC17A5c.950A>G (p.Lys317Arg)
c.899A>G (p.Lys300Arg)
c.752A>G (p.Lys251Arg)
c.719A>G (p.Lys240Arg)
c.971A>G (p.Lys324Arg)
c.863A>G (p.Lys288Arg)
c.820-6385A>G (n.820-6385A>G)
c.947A>G (p.Lys316Arg)
c.632A>G (p.Lys211Arg)
6g.73621832T>GCA364713268SLC17A5c.950A>C (p.Lys317Thr)
c.899A>C (p.Lys300Thr)
c.752A>C (p.Lys251Thr)
c.719A>C (p.Lys240Thr)
c.971A>C (p.Lys324Thr)
c.863A>C (p.Lys288Thr)
c.820-6385A>C (n.820-6385A>C)
c.947A>C (p.Lys316Thr)
c.632A>C (p.Lys211Thr)
6g.73621833T>ACA364713274SLC17A5c.949A>T (p.Lys317Ter)
c.898A>T (p.Lys300Ter)
c.751A>T (p.Lys251Ter)
c.718A>T (p.Lys240Ter)
c.970A>T (p.Lys324Ter)
c.862A>T (p.Lys288Ter)
c.820-6386A>T (n.820-6386A>T)
c.946A>T (p.Lys316Ter)
c.631A>T (p.Lys211Ter)
 gnomAD v4
6g.73621833T>CCA364713277SLC17A5c.949A>G (p.Lys317Glu)
c.898A>G (p.Lys300Glu)
c.751A>G (p.Lys251Glu)
c.718A>G (p.Lys240Glu)
c.970A>G (p.Lys324Glu)
c.862A>G (p.Lys288Glu)
c.820-6386A>G (n.820-6386A>G)
c.946A>G (p.Lys316Glu)
c.631A>G (p.Lys211Glu)
6g.73621833T>GCA364713279SLC17A5c.949A>C (p.Lys317Gln)
c.898A>C (p.Lys300Gln)
c.751A>C (p.Lys251Gln)
c.718A>C (p.Lys240Gln)
c.970A>C (p.Lys324Gln)
c.862A>C (p.Lys288Gln)
c.820-6386A>C (n.820-6386A>C)
c.946A>C (p.Lys316Gln)
c.631A>C (p.Lys211Gln)
6g.73621834C>ACA364713281SLC17A5c.948G>T (p.Met316Ile)
c.897G>T (p.Met299Ile)
c.750G>T (p.Met250Ile)
c.717G>T (p.Met239Ile)
c.969G>T (p.Met323Ile)
c.861G>T (p.Met287Ile)
c.820-6387G>T (n.820-6387G>T)
c.945G>T (p.Met315Ile)
c.630G>T (p.Met210Ile)
6g.73621834C=CA1638234772SLC17A5c.948G= (p.Met316=)
c.897G= (p.Met299=)
c.750G= (p.Met250=)
c.717G= (p.Met239=)
c.969G= (p.Met323=)
c.861G= (p.Met287=)
c.820-6387G= (n.820-6387G=)
c.945G= (p.Met315=)
c.630G= (p.Met210=)
6g.73621834C>GCA364713282SLC17A5c.948G>C (p.Met316Ile)
c.897G>C (p.Met299Ile)
c.750G>C (p.Met250Ile)
c.717G>C (p.Met239Ile)
c.969G>C (p.Met323Ile)
c.861G>C (p.Met287Ile)
c.820-6387G>C (n.820-6387G>C)
c.945G>C (p.Met315Ile)
c.630G>C (p.Met210Ile)
6g.73621834C>TCA364713284SLC17A5c.948G>A (p.Met316Ile)
c.897G>A (p.Met299Ile)
c.750G>A (p.Met250Ile)
c.717G>A (p.Met239Ile)
c.969G>A (p.Met323Ile)
c.861G>A (p.Met287Ile)
c.820-6387G>A (n.820-6387G>A)
c.945G>A (p.Met315Ile)
c.630G>A (p.Met210Ile)
6g.73621835A>CCA364713286SLC17A5c.947T>G (p.Met316Arg)
c.896T>G (p.Met299Arg)
c.749T>G (p.Met250Arg)
c.716T>G (p.Met239Arg)
c.968T>G (p.Met323Arg)
c.860T>G (p.Met287Arg)
c.820-6388T>G (n.820-6388T>G)
c.944T>G (p.Met315Arg)
c.629T>G (p.Met210Arg)
6g.73621835A>GCA364713288SLC17A5c.947T>C (p.Met316Thr)
c.896T>C (p.Met299Thr)
c.749T>C (p.Met250Thr)
c.716T>C (p.Met239Thr)
c.968T>C (p.Met323Thr)
c.860T>C (p.Met287Thr)
c.820-6388T>C (n.820-6388T>C)
c.944T>C (p.Met315Thr)
c.629T>C (p.Met210Thr)
6g.73621835A>TCA364713287SLC17A5c.947T>A (p.Met316Lys)
c.896T>A (p.Met299Lys)
c.749T>A (p.Met250Lys)
c.716T>A (p.Met239Lys)
c.968T>A (p.Met323Lys)
c.860T>A (p.Met287Lys)
c.820-6388T>A (n.820-6388T>A)
c.944T>A (p.Met315Lys)
c.629T>A (p.Met210Lys)
6g.73621838_73621839dupCA1638234773SLC17A5c.946_947dup (p.Met316IlefsTer2)
c.895_896dup (p.Met299IlefsTer2)
c.748_749dup (p.Met250IlefsTer2)
c.715_716dup (p.Met239IlefsTer2)
c.967_968dup (p.Met323IlefsTer2)
c.859_860dup (p.Met287IlefsTer2)
c.820-6389_820-6388dup (n.820-6389_820-6388dup)
c.943_944dup (p.Met315IlefsTer2)
c.628_629dup (p.Met210IlefsTer2)
 dbSNP
6g.73621836T>ACA364713289SLC17A5c.946A>T (p.Met316Leu)
c.895A>T (p.Met299Leu)
c.748A>T (p.Met250Leu)
c.715A>T (p.Met239Leu)
c.967A>T (p.Met323Leu)
c.859A>T (p.Met287Leu)
c.820-6389A>T (n.820-6389A>T)
c.943A>T (p.Met315Leu)
c.628A>T (p.Met210Leu)
6g.73621836T>CCA364713290SLC17A5c.946A>G (p.Met316Val)
c.895A>G (p.Met299Val)
c.748A>G (p.Met250Val)
c.715A>G (p.Met239Val)
c.967A>G (p.Met323Val)
c.859A>G (p.Met287Val)
c.820-6389A>G (n.820-6389A>G)
c.943A>G (p.Met315Val)
c.628A>G (p.Met210Val)
 gnomAD v4
6g.73621836T>GCA364713292SLC17A5c.946A>C (p.Met316Leu)
c.895A>C (p.Met299Leu)
c.748A>C (p.Met250Leu)
c.715A>C (p.Met239Leu)
c.967A>C (p.Met323Leu)
c.859A>C (p.Met287Leu)
c.820-6389A>C (n.820-6389A>C)
c.943A>C (p.Met315Leu)
c.628A>C (p.Met210Leu)
6g.73621837A>CCA364713293SLC17A5c.945T>G (p.Tyr315Ter)
c.894T>G (p.Tyr298Ter)
c.747T>G (p.Tyr249Ter)
c.714T>G (p.Tyr238Ter)
c.966T>G (p.Tyr322Ter)
c.858T>G (p.Tyr286Ter)
c.820-6390T>G (n.820-6390T>G)
c.942T>G (p.Tyr314Ter)
c.627T>G (p.Tyr209Ter)
6g.73621837A>GCA450910866SLC17A5c.945T>C (p.Tyr315=)
c.894T>C (p.Tyr298=)
c.747T>C (p.Tyr249=)
c.714T>C (p.Tyr238=)
c.966T>C (p.Tyr322=)
c.858T>C (p.Tyr286=)
c.820-6390T>C (n.820-6390T>C)
c.942T>C (p.Tyr314=)
c.627T>C (p.Tyr209=)
 ClinVar dbSNP gnomAD v4
6g.73621837A>TCA364713295SLC17A5c.945T>A (p.Tyr315Ter)
c.894T>A (p.Tyr298Ter)
c.747T>A (p.Tyr249Ter)
c.714T>A (p.Tyr238Ter)
c.966T>A (p.Tyr322Ter)
c.858T>A (p.Tyr286Ter)
c.820-6390T>A (n.820-6390T>A)
c.942T>A (p.Tyr314Ter)
c.627T>A (p.Tyr209Ter)
 gnomAD v4
6g.73621838delCA450910867SLC17A5c.944del (p.Tyr315LeufsTer2)
c.893del (p.Tyr298LeufsTer2)
c.746del (p.Tyr249LeufsTer2)
c.713del (p.Tyr238LeufsTer2)
c.965del (p.Tyr322LeufsTer2)
c.857del (p.Tyr286LeufsTer2)
c.820-6391del (n.820-6391del)
c.941del (p.Tyr314LeufsTer2)
c.626del (p.Tyr209LeufsTer2)
 COSMIC
6g.73621838T>ACA364713296SLC17A5c.944A>T (p.Tyr315Phe)
c.893A>T (p.Tyr298Phe)
c.746A>T (p.Tyr249Phe)
c.713A>T (p.Tyr238Phe)
c.965A>T (p.Tyr322Phe)
c.857A>T (p.Tyr286Phe)
c.820-6391A>T (n.820-6391A>T)
c.941A>T (p.Tyr314Phe)
c.626A>T (p.Tyr209Phe)
6g.73621838T>CCA364713298SLC17A5c.944A>G (p.Tyr315Cys)
c.893A>G (p.Tyr298Cys)
c.746A>G (p.Tyr249Cys)
c.713A>G (p.Tyr238Cys)
c.965A>G (p.Tyr322Cys)
c.857A>G (p.Tyr286Cys)
c.820-6391A>G (n.820-6391A>G)
c.941A>G (p.Tyr314Cys)
c.626A>G (p.Tyr209Cys)
6g.73621838T>GCA364713300SLC17A5c.944A>C (p.Tyr315Ser)
c.893A>C (p.Tyr298Ser)
c.746A>C (p.Tyr249Ser)
c.713A>C (p.Tyr238Ser)
c.965A>C (p.Tyr322Ser)
c.857A>C (p.Tyr286Ser)
c.820-6391A>C (n.820-6391A>C)
c.941A>C (p.Tyr314Ser)
c.626A>C (p.Tyr209Ser)
6g.73621839A>CCA364713302SLC17A5c.943T>G (p.Tyr315Asp)
c.892T>G (p.Tyr298Asp)
c.745T>G (p.Tyr249Asp)
c.712T>G (p.Tyr238Asp)
c.964T>G (p.Tyr322Asp)
c.856T>G (p.Tyr286Asp)
c.820-6392T>G (n.820-6392T>G)
c.940T>G (p.Tyr314Asp)
c.625T>G (p.Tyr209Asp)
6g.73621839A>GCA364713304SLC17A5c.943T>C (p.Tyr315His)
c.892T>C (p.Tyr298His)
c.745T>C (p.Tyr249His)
c.712T>C (p.Tyr238His)
c.964T>C (p.Tyr322His)
c.856T>C (p.Tyr286His)
c.820-6392T>C (n.820-6392T>C)
c.940T>C (p.Tyr314His)
c.625T>C (p.Tyr209His)
6g.73621839A>TCA364713306SLC17A5c.943T>A (p.Tyr315Asn)
c.892T>A (p.Tyr298Asn)
c.745T>A (p.Tyr249Asn)
c.712T>A (p.Tyr238Asn)
c.964T>A (p.Tyr322Asn)
c.856T>A (p.Tyr286Asn)
c.820-6392T>A (n.820-6392T>A)
c.940T>A (p.Tyr314Asn)
c.625T>A (p.Tyr209Asn)
6g.73621839_73621842delinsAAGTCA1638234774SLC17A5c.940_943delinsACTT (p.Thr314=)
c.889_892delinsACTT (p.Thr297=)
c.742_745delinsACTT (p.Thr248=)
c.709_712delinsACTT (p.Thr237=)
c.961_964delinsACTT (p.Thr321=)
c.853_856delinsACTT (p.Thr285=)
c.820-6395_820-6392delinsACTT (n.820-6395_820-6392delinsACTT)
c.937_940delinsACTT (p.Thr313=)
c.622_625delinsACTT (p.Thr208=)
6g.73621840A=CA1638234775SLC17A5c.942T= (p.Thr314=)
c.891T= (p.Thr297=)
c.744T= (p.Thr248=)
c.711T= (p.Thr237=)
c.963T= (p.Thr321=)
c.855T= (p.Thr285=)
c.820-6393T= (n.820-6393T=)
c.939T= (p.Thr313=)
c.624T= (p.Thr208=)
6g.73621840A>CCA450910868SLC17A5c.942T>G (p.Thr314=)
c.891T>G (p.Thr297=)
c.744T>G (p.Thr248=)
c.711T>G (p.Thr237=)
c.963T>G (p.Thr321=)
c.855T>G (p.Thr285=)
c.820-6393T>G (n.820-6393T>G)
c.939T>G (p.Thr313=)
c.624T>G (p.Thr208=)
6g.73621840A>GCA3890390SLC17A5c.942T>C (p.Thr314=)
c.891T>C (p.Thr297=)
c.744T>C (p.Thr248=)
c.711T>C (p.Thr237=)
c.963T>C (p.Thr321=)
c.855T>C (p.Thr285=)
c.820-6393T>C (n.820-6393T>C)
c.939T>C (p.Thr313=)
c.624T>C (p.Thr208=)
 dbSNP ExAC gnomAD v2
6g.73621840A>TCA450910869SLC17A5c.942T>A (p.Thr314=)
c.891T>A (p.Thr297=)
c.744T>A (p.Thr248=)
c.711T>A (p.Thr237=)
c.963T>A (p.Thr321=)
c.855T>A (p.Thr285=)
c.820-6393T>A (n.820-6393T>A)
c.939T>A (p.Thr313=)
c.624T>A (p.Thr208=)
6g.73621842_73621844delCA917781018SLC17A5c.940_942del (p.Thr314del)
c.889_891del (p.Thr297del)
c.742_744del (p.Thr248del)
c.709_711del (p.Thr237del)
c.961_963del (p.Thr321del)
c.853_855del (p.Thr285del)
c.820-6395_820-6393del (n.820-6395_820-6393del)
c.937_939del (p.Thr313del)
c.622_624del (p.Thr208del)
 dbSNP gnomAD v4
6g.73621841G>ACA364713309SLC17A5c.941C>T (p.Thr314Ile)
c.890C>T (p.Thr297Ile)
c.743C>T (p.Thr248Ile)
c.710C>T (p.Thr237Ile)
c.962C>T (p.Thr321Ile)
c.854C>T (p.Thr285Ile)
c.820-6394C>T (n.820-6394C>T)
c.938C>T (p.Thr313Ile)
c.623C>T (p.Thr208Ile)
6g.73621841G>CCA364713313SLC17A5c.941C>G (p.Thr314Ser)
c.890C>G (p.Thr297Ser)
c.743C>G (p.Thr248Ser)
c.710C>G (p.Thr237Ser)
c.962C>G (p.Thr321Ser)
c.854C>G (p.Thr285Ser)
c.820-6394C>G (n.820-6394C>G)
c.938C>G (p.Thr313Ser)
c.623C>G (p.Thr208Ser)
6g.73621841G>TCA364713311SLC17A5c.941C>A (p.Thr314Asn)
c.890C>A (p.Thr297Asn)
c.743C>A (p.Thr248Asn)
c.710C>A (p.Thr237Asn)
c.962C>A (p.Thr321Asn)
c.854C>A (p.Thr285Asn)
c.820-6394C>A (n.820-6394C>A)
c.938C>A (p.Thr313Asn)
c.623C>A (p.Thr208Asn)
6g.73621842T>ACA364713315SLC17A5c.940A>T (p.Thr314Ser)
c.889A>T (p.Thr297Ser)
c.742A>T (p.Thr248Ser)
c.709A>T (p.Thr237Ser)
c.961A>T (p.Thr321Ser)
c.853A>T (p.Thr285Ser)
c.820-6395A>T (n.820-6395A>T)
c.937A>T (p.Thr313Ser)
c.622A>T (p.Thr208Ser)
 gnomAD v4
6g.73621842T>CCA3890391SLC17A5c.940A>G (p.Thr314Ala)
c.889A>G (p.Thr297Ala)
c.742A>G (p.Thr248Ala)
c.709A>G (p.Thr237Ala)
c.961A>G (p.Thr321Ala)
c.853A>G (p.Thr285Ala)
c.820-6395A>G (n.820-6395A>G)
c.937A>G (p.Thr313Ala)
c.622A>G (p.Thr208Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621842T>GCA364713317SLC17A5c.940A>C (p.Thr314Pro)
c.889A>C (p.Thr297Pro)
c.742A>C (p.Thr248Pro)
c.709A>C (p.Thr237Pro)
c.961A>C (p.Thr321Pro)
c.853A>C (p.Thr285Pro)
c.820-6395A>C (n.820-6395A>C)
c.937A>C (p.Thr313Pro)
c.622A>C (p.Thr208Pro)
6g.73621842T=CA1638234776SLC17A5c.940A= (p.Thr314=)
c.889A= (p.Thr297=)
c.742A= (p.Thr248=)
c.709A= (p.Thr237=)
c.961A= (p.Thr321=)
c.853A= (p.Thr285=)
c.820-6395A= (n.820-6395A=)
c.937A= (p.Thr313=)
c.622A= (p.Thr208=)
6g.73621843A>CCA450910870SLC17A5c.939T>G (p.Pro313=)
c.888T>G (p.Pro296=)
c.741T>G (p.Pro247=)
c.708T>G (p.Pro236=)
c.960T>G (p.Pro320=)
c.852T>G (p.Pro284=)
c.820-6396T>G (n.820-6396T>G)
c.936T>G (p.Pro312=)
c.621T>G (p.Pro207=)
6g.73621843A>GCA450910871SLC17A5c.939T>C (p.Pro313=)
c.888T>C (p.Pro296=)
c.741T>C (p.Pro247=)
c.708T>C (p.Pro236=)
c.960T>C (p.Pro320=)
c.852T>C (p.Pro284=)
c.820-6396T>C (n.820-6396T>C)
c.936T>C (p.Pro312=)
c.621T>C (p.Pro207=)
 gnomAD v4
6g.73621843A>TCA450910872SLC17A5c.939T>A (p.Pro313=)
c.888T>A (p.Pro296=)
c.741T>A (p.Pro247=)
c.708T>A (p.Pro236=)
c.960T>A (p.Pro320=)
c.852T>A (p.Pro284=)
c.820-6396T>A (n.820-6396T>A)
c.936T>A (p.Pro312=)
c.621T>A (p.Pro207=)
6g.73621844G>ACA364713319SLC17A5c.938C>T (p.Pro313Leu)
c.887C>T (p.Pro296Leu)
c.740C>T (p.Pro247Leu)
c.707C>T (p.Pro236Leu)
c.959C>T (p.Pro320Leu)
c.851C>T (p.Pro284Leu)
c.820-6397C>T (n.820-6397C>T)
c.935C>T (p.Pro312Leu)
c.620C>T (p.Pro207Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.73621844G>CCA364713324SLC17A5c.938C>G (p.Pro313Arg)
c.887C>G (p.Pro296Arg)
c.740C>G (p.Pro247Arg)
c.707C>G (p.Pro236Arg)
c.959C>G (p.Pro320Arg)
c.851C>G (p.Pro284Arg)
c.820-6397C>G (n.820-6397C>G)
c.935C>G (p.Pro312Arg)
c.620C>G (p.Pro207Arg)
6g.73621844G=CA1638234777SLC17A5c.938C= (p.Pro313=)
c.887C= (p.Pro296=)
c.740C= (p.Pro247=)
c.707C= (p.Pro236=)
c.959C= (p.Pro320=)
c.851C= (p.Pro284=)
c.820-6397C= (n.820-6397C=)
c.935C= (p.Pro312=)
c.620C= (p.Pro207=)
6g.73621844G>TCA364713322SLC17A5c.938C>A (p.Pro313His)
c.887C>A (p.Pro296His)
c.740C>A (p.Pro247His)
c.707C>A (p.Pro236His)
c.959C>A (p.Pro320His)
c.851C>A (p.Pro284His)
c.820-6397C>A (n.820-6397C>A)
c.935C>A (p.Pro312His)
c.620C>A (p.Pro207His)
6g.73621845G>ACA364713326SLC17A5c.937C>T (p.Pro313Ser)
c.886C>T (p.Pro296Ser)
c.739C>T (p.Pro247Ser)
c.706C>T (p.Pro236Ser)
c.958C>T (p.Pro320Ser)
c.850C>T (p.Pro284Ser)
c.820-6398C>T (n.820-6398C>T)
c.934C>T (p.Pro312Ser)
c.619C>T (p.Pro207Ser)
6g.73621845G>CCA364713328SLC17A5c.937C>G (p.Pro313Ala)
c.886C>G (p.Pro296Ala)
c.739C>G (p.Pro247Ala)
c.706C>G (p.Pro236Ala)
c.958C>G (p.Pro320Ala)
c.850C>G (p.Pro284Ala)
c.820-6398C>G (n.820-6398C>G)
c.934C>G (p.Pro312Ala)
c.619C>G (p.Pro207Ala)
6g.73621845G>TCA364713330SLC17A5c.937C>A (p.Pro313Thr)
c.886C>A (p.Pro296Thr)
c.739C>A (p.Pro247Thr)
c.706C>A (p.Pro236Thr)
c.958C>A (p.Pro320Thr)
c.850C>A (p.Pro284Thr)
c.820-6398C>A (n.820-6398C>A)
c.934C>A (p.Pro312Thr)
c.619C>A (p.Pro207Thr)
6g.73621846C>ACA364713333SLC17A5c.936G>T (p.Leu312Phe)
c.885G>T (p.Leu295Phe)
c.738G>T (p.Leu246Phe)
c.705G>T (p.Leu235Phe)
c.957G>T (p.Leu319Phe)
c.849G>T (p.Leu283Phe)
c.820-6399G>T (n.820-6399G>T)
c.933G>T (p.Leu311Phe)
c.618G>T (p.Leu206Phe)
6g.73621846C>GCA364713335SLC17A5c.936G>C (p.Leu312Phe)
c.885G>C (p.Leu295Phe)
c.738G>C (p.Leu246Phe)
c.705G>C (p.Leu235Phe)
c.957G>C (p.Leu319Phe)
c.849G>C (p.Leu283Phe)
c.820-6399G>C (n.820-6399G>C)
c.933G>C (p.Leu311Phe)
c.618G>C (p.Leu206Phe)
6g.73621846C>TCA450910873SLC17A5c.936G>A (p.Leu312=)
c.885G>A (p.Leu295=)
c.738G>A (p.Leu246=)
c.705G>A (p.Leu235=)
c.957G>A (p.Leu319=)
c.849G>A (p.Leu283=)
c.820-6399G>A (n.820-6399G>A)
c.933G>A (p.Leu311=)
c.618G>A (p.Leu206=)
 gnomAD v4
6g.73621847A>CCA364713338SLC17A5c.935T>G (p.Leu312Trp)
c.884T>G (p.Leu295Trp)
c.737T>G (p.Leu246Trp)
c.704T>G (p.Leu235Trp)
c.956T>G (p.Leu319Trp)
c.848T>G (p.Leu283Trp)
c.820-6400T>G (n.820-6400T>G)
c.932T>G (p.Leu311Trp)
c.617T>G (p.Leu206Trp)
6g.73621847A>GCA364713339SLC17A5c.935T>C (p.Leu312Ser)
c.884T>C (p.Leu295Ser)
c.737T>C (p.Leu246Ser)
c.704T>C (p.Leu235Ser)
c.956T>C (p.Leu319Ser)
c.848T>C (p.Leu283Ser)
c.820-6400T>C (n.820-6400T>C)
c.932T>C (p.Leu311Ser)
c.617T>C (p.Leu206Ser)
6g.73621847A>TCA364713342SLC17A5c.935T>A (p.Leu312Ter)
c.884T>A (p.Leu295Ter)
c.737T>A (p.Leu246Ter)
c.704T>A (p.Leu235Ter)
c.956T>A (p.Leu319Ter)
c.848T>A (p.Leu283Ter)
c.820-6400T>A (n.820-6400T>A)
c.932T>A (p.Leu311Ter)
c.617T>A (p.Leu206Ter)
6g.73621848A>CCA364713344SLC17A5c.934T>G (p.Leu312Val)
c.883T>G (p.Leu295Val)
c.736T>G (p.Leu246Val)
c.703T>G (p.Leu235Val)
c.955T>G (p.Leu319Val)
c.847T>G (p.Leu283Val)
c.820-6401T>G (n.820-6401T>G)
c.931T>G (p.Leu311Val)
c.616T>G (p.Leu206Val)
6g.73621848A>GCA450910874SLC17A5c.934T>C (p.Leu312=)
c.883T>C (p.Leu295=)
c.736T>C (p.Leu246=)
c.703T>C (p.Leu235=)
c.955T>C (p.Leu319=)
c.847T>C (p.Leu283=)
c.820-6401T>C (n.820-6401T>C)
c.931T>C (p.Leu311=)
c.616T>C (p.Leu206=)
6g.73621848A>TCA364713346SLC17A5c.934T>A (p.Leu312Met)
c.883T>A (p.Leu295Met)
c.736T>A (p.Leu246Met)
c.703T>A (p.Leu235Met)
c.955T>A (p.Leu319Met)
c.847T>A (p.Leu283Met)
c.820-6401T>A (n.820-6401T>A)
c.931T>A (p.Leu311Met)
c.616T>A (p.Leu206Met)
6g.73621849T>ACA364713352SLC17A5c.933A>T (p.Leu311Phe)
c.882A>T (p.Leu294Phe)
c.735A>T (p.Leu245Phe)
c.702A>T (p.Leu234Phe)
c.954A>T (p.Leu318Phe)
c.846A>T (p.Leu282Phe)
c.820-6402A>T (n.820-6402A>T)
c.930A>T (p.Leu310Phe)
c.615A>T (p.Leu205Phe)
6g.73621849T>CCA140963071SLC17A5c.933A>G (p.Leu311=)
c.882A>G (p.Leu294=)
c.735A>G (p.Leu245=)
c.702A>G (p.Leu234=)
c.954A>G (p.Leu318=)
c.846A>G (p.Leu282=)
c.820-6402A>G (n.820-6402A>G)
c.930A>G (p.Leu310=)
c.615A>G (p.Leu205=)
 ClinVar dbSNP gnomAD v4
6g.73621849T>GCA364713349SLC17A5c.933A>C (p.Leu311Phe)
c.882A>C (p.Leu294Phe)
c.735A>C (p.Leu245Phe)
c.702A>C (p.Leu234Phe)
c.954A>C (p.Leu318Phe)
c.846A>C (p.Leu282Phe)
c.820-6402A>C (n.820-6402A>C)
c.930A>C (p.Leu310Phe)
c.615A>C (p.Leu205Phe)
6g.73621849T=CA1638234778SLC17A5c.933A= (p.Leu311=)
c.882A= (p.Leu294=)
c.735A= (p.Leu245=)
c.702A= (p.Leu234=)
c.954A= (p.Leu318=)
c.846A= (p.Leu282=)
c.820-6402A= (n.820-6402A=)
c.930A= (p.Leu310=)
c.615A= (p.Leu205=)
6g.73621850A>CCA364713354SLC17A5c.932T>G (p.Leu311Ter)
c.881T>G (p.Leu294Ter)
c.734T>G (p.Leu245Ter)
c.701T>G (p.Leu234Ter)
c.953T>G (p.Leu318Ter)
c.845T>G (p.Leu282Ter)
c.820-6403T>G (n.820-6403T>G)
c.929T>G (p.Leu310Ter)
c.614T>G (p.Leu205Ter)
6g.73621850A>GCA364713356SLC17A5c.932T>C (p.Leu311Ser)
c.881T>C (p.Leu294Ser)
c.734T>C (p.Leu245Ser)
c.701T>C (p.Leu234Ser)
c.953T>C (p.Leu318Ser)
c.845T>C (p.Leu282Ser)
c.820-6403T>C (n.820-6403T>C)
c.929T>C (p.Leu310Ser)
c.614T>C (p.Leu205Ser)
6g.73621850A>TCA364713358SLC17A5c.932T>A (p.Leu311Ter)
c.881T>A (p.Leu294Ter)
c.734T>A (p.Leu245Ter)
c.701T>A (p.Leu234Ter)
c.953T>A (p.Leu318Ter)
c.845T>A (p.Leu282Ter)
c.820-6403T>A (n.820-6403T>A)
c.929T>A (p.Leu310Ter)
c.614T>A (p.Leu205Ter)
6g.73621851A>CCA364713360SLC17A5c.931T>G (p.Leu311Val)
c.880T>G (p.Leu294Val)
c.733T>G (p.Leu245Val)
c.700T>G (p.Leu234Val)
c.952T>G (p.Leu318Val)
c.844T>G (p.Leu282Val)
c.820-6404T>G (n.820-6404T>G)
c.928T>G (p.Leu310Val)
c.613T>G (p.Leu205Val)
6g.73621851A>GCA450910875SLC17A5c.931T>C (p.Leu311=)
c.880T>C (p.Leu294=)
c.733T>C (p.Leu245=)
c.700T>C (p.Leu234=)
c.952T>C (p.Leu318=)
c.844T>C (p.Leu282=)
c.820-6404T>C (n.820-6404T>C)
c.928T>C (p.Leu310=)
c.613T>C (p.Leu205=)
6g.73621851A>TCA364713362SLC17A5c.931T>A (p.Leu311Ile)
c.880T>A (p.Leu294Ile)
c.733T>A (p.Leu245Ile)
c.700T>A (p.Leu234Ile)
c.952T>A (p.Leu318Ile)
c.844T>A (p.Leu282Ile)
c.820-6404T>A (n.820-6404T>A)
c.928T>A (p.Leu310Ile)
c.613T>A (p.Leu205Ile)
6g.73621852T>ACA450910876SLC17A5c.930A>T (p.Thr310=)
c.879A>T (p.Thr293=)
c.732A>T (p.Thr244=)
c.699A>T (p.Thr233=)
c.951A>T (p.Thr317=)
c.843A>T (p.Thr281=)
c.820-6405A>T (n.820-6405A>T)
c.927A>T (p.Thr309=)
c.612A>T (p.Thr204=)
6g.73621852T>CCA450910877SLC17A5c.930A>G (p.Thr310=)
c.879A>G (p.Thr293=)
c.732A>G (p.Thr244=)
c.699A>G (p.Thr233=)
c.951A>G (p.Thr317=)
c.843A>G (p.Thr281=)
c.820-6405A>G (n.820-6405A>G)
c.927A>G (p.Thr309=)
c.612A>G (p.Thr204=)
 gnomAD v4
6g.73621852T>GCA3890392SLC17A5c.930A>C (p.Thr310=)
c.879A>C (p.Thr293=)
c.732A>C (p.Thr244=)
c.699A>C (p.Thr233=)
c.951A>C (p.Thr317=)
c.843A>C (p.Thr281=)
c.820-6405A>C (n.820-6405A>C)
c.927A>C (p.Thr309=)
c.612A>C (p.Thr204=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73621852T=CA1638234779SLC17A5c.930A= (p.Thr310=)
c.879A= (p.Thr293=)
c.732A= (p.Thr244=)
c.699A= (p.Thr233=)
c.951A= (p.Thr317=)
c.843A= (p.Thr281=)
c.820-6405A= (n.820-6405A=)
c.927A= (p.Thr309=)
c.612A= (p.Thr204=)
6g.73621853G>ACA3890393SLC17A5c.929C>T (p.Thr310Ile)
c.878C>T (p.Thr293Ile)
c.731C>T (p.Thr244Ile)
c.698C>T (p.Thr233Ile)
c.950C>T (p.Thr317Ile)
c.842C>T (p.Thr281Ile)
c.820-6406C>T (n.820-6406C>T)
c.926C>T (p.Thr309Ile)
c.611C>T (p.Thr204Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73621853G>CCA364713367SLC17A5c.929C>G (p.Thr310Arg)
c.878C>G (p.Thr293Arg)
c.731C>G (p.Thr244Arg)
c.698C>G (p.Thr233Arg)
c.950C>G (p.Thr317Arg)
c.842C>G (p.Thr281Arg)
c.820-6406C>G (n.820-6406C>G)
c.926C>G (p.Thr309Arg)
c.611C>G (p.Thr204Arg)
6g.73621853G=CA1638234780SLC17A5c.929C= (p.Thr310=)
c.878C= (p.Thr293=)
c.731C= (p.Thr244=)
c.698C= (p.Thr233=)
c.950C= (p.Thr317=)
c.842C= (p.Thr281=)
c.820-6406C= (n.820-6406C=)
c.926C= (p.Thr309=)
c.611C= (p.Thr204=)
6g.73621853G>TCA364713368SLC17A5c.929C>A (p.Thr310Lys)
c.878C>A (p.Thr293Lys)
c.731C>A (p.Thr244Lys)
c.698C>A (p.Thr233Lys)
c.950C>A (p.Thr317Lys)
c.842C>A (p.Thr281Lys)
c.820-6406C>A (n.820-6406C>A)
c.926C>A (p.Thr309Lys)
c.611C>A (p.Thr204Lys)
6g.73621854T>ACA364713371SLC17A5c.928A>T (p.Thr310Ser)
c.877A>T (p.Thr293Ser)
c.730A>T (p.Thr244Ser)
c.697A>T (p.Thr233Ser)
c.949A>T (p.Thr317Ser)
c.841A>T (p.Thr281Ser)
c.820-6407A>T (n.820-6407A>T)
c.925A>T (p.Thr309Ser)
c.610A>T (p.Thr204Ser)
6g.73621854T>CCA364713373SLC17A5c.928A>G (p.Thr310Ala)
c.877A>G (p.Thr293Ala)
c.730A>G (p.Thr244Ala)
c.697A>G (p.Thr233Ala)
c.949A>G (p.Thr317Ala)
c.841A>G (p.Thr281Ala)
c.820-6407A>G (n.820-6407A>G)
c.925A>G (p.Thr309Ala)
c.610A>G (p.Thr204Ala)
6g.73621854T>GCA364713375SLC17A5c.928A>C (p.Thr310Pro)
c.877A>C (p.Thr293Pro)
c.730A>C (p.Thr244Pro)
c.697A>C (p.Thr233Pro)
c.949A>C (p.Thr317Pro)
c.841A>C (p.Thr281Pro)
c.820-6407A>C (n.820-6407A>C)
c.925A>C (p.Thr309Pro)
c.610A>C (p.Thr204Pro)
6g.73621855C>ACA364713379SLC17A5c.927G>T (p.Leu309Phe)
c.876G>T (p.Leu292Phe)
c.729G>T (p.Leu243Phe)
c.696G>T (p.Leu232Phe)
c.948G>T (p.Leu316Phe)
c.840G>T (p.Leu280Phe)
c.820-6408G>T (n.820-6408G>T)
c.924G>T (p.Leu308Phe)
c.609G>T (p.Leu203Phe)
6g.73621855C>GCA364713377SLC17A5c.927G>C (p.Leu309Phe)
c.876G>C (p.Leu292Phe)
c.729G>C (p.Leu243Phe)
c.696G>C (p.Leu232Phe)
c.948G>C (p.Leu316Phe)
c.840G>C (p.Leu280Phe)
c.820-6408G>C (n.820-6408G>C)
c.924G>C (p.Leu308Phe)
c.609G>C (p.Leu203Phe)
6g.73621855C>TCA450910878SLC17A5c.927G>A (p.Leu309=)
c.876G>A (p.Leu292=)
c.729G>A (p.Leu243=)
c.696G>A (p.Leu232=)
c.948G>A (p.Leu316=)
c.840G>A (p.Leu280=)
c.820-6408G>A (n.820-6408G>A)
c.924G>A (p.Leu308=)
c.609G>A (p.Leu203=)
 ClinVar gnomAD v4
6g.73621855_73621859delCA2578694431SLC17A5c.923_927del (p.Leu308TyrfsTer?)
c.872_876del (p.Leu291TyrfsTer?)
c.725_729del (p.Leu242TyrfsTer?)
c.692_696del (p.Leu231TyrfsTer?)
c.944_948del (p.Leu315TyrfsTer?)
c.836_840del (p.Leu279TyrfsTer?)
c.820-6412_820-6408del (n.820-6412_820-6408del)
c.920_924del (p.Leu307TyrfsTer?)
c.605_609del (p.Leu202TyrfsTer?)
6g.73621856A>CCA364713383SLC17A5c.926T>G (p.Leu309Trp)
c.875T>G (p.Leu292Trp)
c.728T>G (p.Leu243Trp)
c.695T>G (p.Leu232Trp)
c.947T>G (p.Leu316Trp)
c.839T>G (p.Leu280Trp)
c.820-6409T>G (n.820-6409T>G)
c.923T>G (p.Leu308Trp)
c.608T>G (p.Leu203Trp)
6g.73621856A>GCA364713385SLC17A5c.926T>C (p.Leu309Ser)
c.875T>C (p.Leu292Ser)
c.728T>C (p.Leu243Ser)
c.695T>C (p.Leu232Ser)
c.947T>C (p.Leu316Ser)
c.839T>C (p.Leu280Ser)
c.820-6409T>C (n.820-6409T>C)
c.923T>C (p.Leu308Ser)
c.608T>C (p.Leu203Ser)
6g.73621856A>TCA364713387SLC17A5c.926T>A (p.Leu309Ter)
c.875T>A (p.Leu292Ter)
c.728T>A (p.Leu243Ter)
c.695T>A (p.Leu232Ter)
c.947T>A (p.Leu316Ter)
c.839T>A (p.Leu280Ter)
c.820-6409T>A (n.820-6409T>A)
c.923T>A (p.Leu308Ter)
c.608T>A (p.Leu203Ter)
6g.73621857A>CCA364713389SLC17A5c.925T>G (p.Leu309Val)
c.874T>G (p.Leu292Val)
c.727T>G (p.Leu243Val)
c.694T>G (p.Leu232Val)
c.946T>G (p.Leu316Val)
c.838T>G (p.Leu280Val)
c.820-6410T>G (n.820-6410T>G)
c.922T>G (p.Leu308Val)
c.607T>G (p.Leu203Val)
6g.73621857A>GCA450910879SLC17A5c.925T>C (p.Leu309=)
c.874T>C (p.Leu292=)
c.727T>C (p.Leu243=)
c.694T>C (p.Leu232=)
c.946T>C (p.Leu316=)
c.838T>C (p.Leu280=)
c.820-6410T>C (n.820-6410T>C)
c.922T>C (p.Leu308=)
c.607T>C (p.Leu203=)
6g.73621857A>TCA364713391SLC17A5c.925T>A (p.Leu309Met)
c.874T>A (p.Leu292Met)
c.727T>A (p.Leu243Met)
c.694T>A (p.Leu232Met)
c.946T>A (p.Leu316Met)
c.838T>A (p.Leu280Met)
c.820-6410T>A (n.820-6410T>A)
c.922T>A (p.Leu308Met)
c.607T>A (p.Leu203Met)
6g.73621858T>ACA364713394SLC17A5c.924A>T (p.Leu308Phe)
c.873A>T (p.Leu291Phe)
c.726A>T (p.Leu242Phe)
c.693A>T (p.Leu231Phe)
c.945A>T (p.Leu315Phe)
c.837A>T (p.Leu279Phe)
c.820-6411A>T (n.820-6411A>T)
c.921A>T (p.Leu307Phe)
c.606A>T (p.Leu202Phe)
6g.73621858T>CCA450910880SLC17A5c.924A>G (p.Leu308=)
c.873A>G (p.Leu291=)
c.726A>G (p.Leu242=)
c.693A>G (p.Leu231=)
c.945A>G (p.Leu315=)
c.837A>G (p.Leu279=)
c.820-6411A>G (n.820-6411A>G)
c.921A>G (p.Leu307=)
c.606A>G (p.Leu202=)
 ClinVar dbSNP gnomAD v4
6g.73621858T>GCA364713396SLC17A5c.924A>C (p.Leu308Phe)
c.873A>C (p.Leu291Phe)
c.726A>C (p.Leu242Phe)
c.693A>C (p.Leu231Phe)
c.945A>C (p.Leu315Phe)
c.837A>C (p.Leu279Phe)
c.820-6411A>C (n.820-6411A>C)
c.921A>C (p.Leu307Phe)
c.606A>C (p.Leu202Phe)
 gnomAD v4
6g.73621859A=CA1638234781SLC17A5c.923T= (p.Leu308=)
c.872T= (p.Leu291=)
c.725T= (p.Leu242=)
c.692T= (p.Leu231=)
c.944T= (p.Leu315=)
c.836T= (p.Leu279=)
c.820-6412T= (n.820-6412T=)
c.920T= (p.Leu307=)
c.605T= (p.Leu202=)
6g.73621859A>CCA364713398SLC17A5c.923T>G (p.Leu308Ter)
c.872T>G (p.Leu291Ter)
c.725T>G (p.Leu242Ter)
c.692T>G (p.Leu231Ter)
c.944T>G (p.Leu315Ter)
c.836T>G (p.Leu279Ter)
c.820-6412T>G (n.820-6412T>G)
c.920T>G (p.Leu307Ter)
c.605T>G (p.Leu202Ter)
 ClinVar dbSNP
6g.73621859A>GCA3890394SLC17A5c.923T>C (p.Leu308Ser)
c.872T>C (p.Leu291Ser)
c.725T>C (p.Leu242Ser)
c.692T>C (p.Leu231Ser)
c.944T>C (p.Leu315Ser)
c.836T>C (p.Leu279Ser)
c.820-6412T>C (n.820-6412T>C)
c.920T>C (p.Leu307Ser)
c.605T>C (p.Leu202Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621859A>TCA364713402SLC17A5c.923T>A (p.Leu308Ter)
c.872T>A (p.Leu291Ter)
c.725T>A (p.Leu242Ter)
c.692T>A (p.Leu231Ter)
c.944T>A (p.Leu315Ter)
c.836T>A (p.Leu279Ter)
c.820-6412T>A (n.820-6412T>A)
c.920T>A (p.Leu307Ter)
c.605T>A (p.Leu202Ter)
6g.73621860A>CCA364713404SLC17A5c.922T>G (p.Leu308Val)
c.871T>G (p.Leu291Val)
c.724T>G (p.Leu242Val)
c.691T>G (p.Leu231Val)
c.943T>G (p.Leu315Val)
c.835T>G (p.Leu279Val)
c.820-6413T>G (n.820-6413T>G)
c.919T>G (p.Leu307Val)
c.604T>G (p.Leu202Val)
6g.73621860A>GCA450910881SLC17A5c.922T>C (p.Leu308=)
c.871T>C (p.Leu291=)
c.724T>C (p.Leu242=)
c.691T>C (p.Leu231=)
c.943T>C (p.Leu315=)
c.835T>C (p.Leu279=)
c.820-6413T>C (n.820-6413T>C)
c.919T>C (p.Leu307=)
c.604T>C (p.Leu202=)
6g.73621860A>TCA364713406SLC17A5c.922T>A (p.Leu308Ile)
c.871T>A (p.Leu291Ile)
c.724T>A (p.Leu242Ile)
c.691T>A (p.Leu231Ile)
c.943T>A (p.Leu315Ile)
c.835T>A (p.Leu279Ile)
c.820-6413T>A (n.820-6413T>A)
c.919T>A (p.Leu307Ile)
c.604T>A (p.Leu202Ile)
6g.73621861A>CCA450910882SLC17A5c.921T>G (p.Thr307=)
c.870T>G (p.Thr290=)
c.723T>G (p.Thr241=)
c.690T>G (p.Thr230=)
c.942T>G (p.Thr314=)
c.834T>G (p.Thr278=)
c.820-6414T>G (n.820-6414T>G)
c.918T>G (p.Thr306=)
c.603T>G (p.Thr201=)
 gnomAD v4
6g.73621861A>GCA450910883SLC17A5c.921T>C (p.Thr307=)
c.870T>C (p.Thr290=)
c.723T>C (p.Thr241=)
c.690T>C (p.Thr230=)
c.942T>C (p.Thr314=)
c.834T>C (p.Thr278=)
c.820-6414T>C (n.820-6414T>C)
c.918T>C (p.Thr306=)
c.603T>C (p.Thr201=)
6g.73621861A>TCA450910884SLC17A5c.921T>A (p.Thr307=)
c.870T>A (p.Thr290=)
c.723T>A (p.Thr241=)
c.690T>A (p.Thr230=)
c.942T>A (p.Thr314=)
c.834T>A (p.Thr278=)
c.820-6414T>A (n.820-6414T>A)
c.918T>A (p.Thr306=)
c.603T>A (p.Thr201=)
 gnomAD v4
6g.73621862G>ACA364713413SLC17A5c.920C>T (p.Thr307Ile)
c.869C>T (p.Thr290Ile)
c.722C>T (p.Thr241Ile)
c.689C>T (p.Thr230Ile)
c.941C>T (p.Thr314Ile)
c.833C>T (p.Thr278Ile)
c.820-6415C>T (n.820-6415C>T)
c.917C>T (p.Thr306Ile)
c.602C>T (p.Thr201Ile)
6g.73621862G>CCA364713411SLC17A5c.920C>G (p.Thr307Ser)
c.869C>G (p.Thr290Ser)
c.722C>G (p.Thr241Ser)
c.689C>G (p.Thr230Ser)
c.941C>G (p.Thr314Ser)
c.833C>G (p.Thr278Ser)
c.820-6415C>G (n.820-6415C>G)
c.917C>G (p.Thr306Ser)
c.602C>G (p.Thr201Ser)
6g.73621862G>TCA364713410SLC17A5c.920C>A (p.Thr307Asn)
c.869C>A (p.Thr290Asn)
c.722C>A (p.Thr241Asn)
c.689C>A (p.Thr230Asn)
c.941C>A (p.Thr314Asn)
c.833C>A (p.Thr278Asn)
c.820-6415C>A (n.820-6415C>A)
c.917C>A (p.Thr306Asn)
c.602C>A (p.Thr201Asn)
6g.73621863T>ACA364713416SLC17A5c.919A>T (p.Thr307Ser)
c.868A>T (p.Thr290Ser)
c.721A>T (p.Thr241Ser)
c.688A>T (p.Thr230Ser)
c.940A>T (p.Thr314Ser)
c.832A>T (p.Thr278Ser)
c.820-6416A>T (n.820-6416A>T)
c.916A>T (p.Thr306Ser)
c.601A>T (p.Thr201Ser)
6g.73621863T>CCA364713418SLC17A5c.919A>G (p.Thr307Ala)
c.868A>G (p.Thr290Ala)
c.721A>G (p.Thr241Ala)
c.688A>G (p.Thr230Ala)
c.940A>G (p.Thr314Ala)
c.832A>G (p.Thr278Ala)
c.820-6416A>G (n.820-6416A>G)
c.916A>G (p.Thr306Ala)
c.601A>G (p.Thr201Ala)
6g.73621863T>GCA364713420SLC17A5c.919A>C (p.Thr307Pro)
c.868A>C (p.Thr290Pro)
c.721A>C (p.Thr241Pro)
c.688A>C (p.Thr230Pro)
c.940A>C (p.Thr314Pro)
c.832A>C (p.Thr278Pro)
c.820-6416A>C (n.820-6416A>C)
c.916A>C (p.Thr306Pro)
c.601A>C (p.Thr201Pro)
 dbSNP
6g.73621864A=CA1638234782SLC17A5c.918T= (p.Tyr306=)
c.867T= (p.Tyr289=)
c.720T= (p.Tyr240=)
c.687T= (p.Tyr229=)
c.939T= (p.Tyr313=)
c.831T= (p.Tyr277=)
c.820-6417T= (n.820-6417T=)
c.915T= (p.Tyr305=)
c.600T= (p.Tyr200=)
6g.73621864A>CCA3890395SLC17A5c.918T>G (p.Tyr306Ter)
c.867T>G (p.Tyr289Ter)
c.720T>G (p.Tyr240Ter)
c.687T>G (p.Tyr229Ter)
c.939T>G (p.Tyr313Ter)
c.831T>G (p.Tyr277Ter)
c.820-6417T>G (n.820-6417T>G)
c.915T>G (p.Tyr305Ter)
c.600T>G (p.Tyr200Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621864A>GCA450910885SLC17A5c.918T>C (p.Tyr306=)
c.867T>C (p.Tyr289=)
c.720T>C (p.Tyr240=)
c.687T>C (p.Tyr229=)
c.939T>C (p.Tyr313=)
c.831T>C (p.Tyr277=)
c.820-6417T>C (n.820-6417T>C)
c.915T>C (p.Tyr305=)
c.600T>C (p.Tyr200=)
6g.73621864A>TCA364713422SLC17A5c.918T>A (p.Tyr306Ter)
c.867T>A (p.Tyr289Ter)
c.720T>A (p.Tyr240Ter)
c.687T>A (p.Tyr229Ter)
c.939T>A (p.Tyr313Ter)
c.831T>A (p.Tyr277Ter)
c.820-6417T>A (n.820-6417T>A)
c.915T>A (p.Tyr305Ter)
c.600T>A (p.Tyr200Ter)
6g.73621865T>ACA364713426SLC17A5c.917A>T (p.Tyr306Phe)
c.866A>T (p.Tyr289Phe)
c.719A>T (p.Tyr240Phe)
c.686A>T (p.Tyr229Phe)
c.938A>T (p.Tyr313Phe)
c.830A>T (p.Tyr277Phe)
c.820-6418A>T (n.820-6418A>T)
c.914A>T (p.Tyr305Phe)
c.599A>T (p.Tyr200Phe)
6g.73621865T>CCA364713427SLC17A5c.917A>G (p.Tyr306Cys)
c.866A>G (p.Tyr289Cys)
c.719A>G (p.Tyr240Cys)
c.686A>G (p.Tyr229Cys)
c.938A>G (p.Tyr313Cys)
c.830A>G (p.Tyr277Cys)
c.820-6418A>G (n.820-6418A>G)
c.914A>G (p.Tyr305Cys)
c.599A>G (p.Tyr200Cys)
6g.73621865T>GCA364713430SLC17A5c.917A>C (p.Tyr306Ser)
c.866A>C (p.Tyr289Ser)
c.719A>C (p.Tyr240Ser)
c.686A>C (p.Tyr229Ser)
c.938A>C (p.Tyr313Ser)
c.830A>C (p.Tyr277Ser)
c.820-6418A>C (n.820-6418A>C)
c.914A>C (p.Tyr305Ser)
c.599A>C (p.Tyr200Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.73621865T=CA1638234783SLC17A5c.917A= (p.Tyr306=)
c.866A= (p.Tyr289=)
c.719A= (p.Tyr240=)
c.686A= (p.Tyr229=)
c.938A= (p.Tyr313=)
c.830A= (p.Tyr277=)
c.820-6418A= (n.820-6418A=)
c.914A= (p.Tyr305=)
c.599A= (p.Tyr200=)
6g.73621866A>CCA364713432SLC17A5c.916T>G (p.Tyr306Asp)
c.865T>G (p.Tyr289Asp)
c.718T>G (p.Tyr240Asp)
c.685T>G (p.Tyr229Asp)
c.937T>G (p.Tyr313Asp)
c.829T>G (p.Tyr277Asp)
c.820-6419T>G (n.820-6419T>G)
c.913T>G (p.Tyr305Asp)
c.598T>G (p.Tyr200Asp)
6g.73621866A>GCA364713435SLC17A5c.916T>C (p.Tyr306His)
c.865T>C (p.Tyr289His)
c.718T>C (p.Tyr240His)
c.685T>C (p.Tyr229His)
c.937T>C (p.Tyr313His)
c.829T>C (p.Tyr277His)
c.820-6419T>C (n.820-6419T>C)
c.913T>C (p.Tyr305His)
c.598T>C (p.Tyr200His)
6g.73621866A>TCA364713437SLC17A5c.916T>A (p.Tyr306Asn)
c.865T>A (p.Tyr289Asn)
c.718T>A (p.Tyr240Asn)
c.685T>A (p.Tyr229Asn)
c.937T>A (p.Tyr313Asn)
c.829T>A (p.Tyr277Asn)
c.820-6419T>A (n.820-6419T>A)
c.913T>A (p.Tyr305Asn)
c.598T>A (p.Tyr200Asn)
6g.73621870delCA2580075762SLC17A5c.916del (p.Tyr306IlefsTer4)
c.865del (p.Tyr289IlefsTer4)
c.718del (p.Tyr240IlefsTer4)
c.685del (p.Tyr229IlefsTer4)
c.937del (p.Tyr313IlefsTer4)
c.829del (p.Tyr277IlefsTer4)
c.820-6419del (n.820-6419del)
c.913del (p.Tyr305IlefsTer4)
c.598del (p.Tyr200IlefsTer4)
 ClinVar gnomAD v4
6g.73621869_73621870delCA2580075761SLC17A5c.915_916del (p.Phe305LeufsTer?)
c.864_865del (p.Phe288LeufsTer?)
c.717_718del (p.Phe239LeufsTer?)
c.684_685del (p.Phe228LeufsTer?)
c.936_937del (p.Phe312LeufsTer?)
c.828_829del (p.Phe276LeufsTer?)
c.820-6420_820-6419del (n.820-6420_820-6419del)
c.912_913del (p.Phe304LeufsTer?)
c.597_598del (p.Phe199LeufsTer?)
 ClinVar
6g.73621867A>CCA364713439SLC17A5c.915T>G (p.Phe305Leu)
c.864T>G (p.Phe288Leu)
c.717T>G (p.Phe239Leu)
c.684T>G (p.Phe228Leu)
c.936T>G (p.Phe312Leu)
c.828T>G (p.Phe276Leu)
c.820-6420T>G (n.820-6420T>G)
c.912T>G (p.Phe304Leu)
c.597T>G (p.Phe199Leu)
6g.73621867A>GCA450910886SLC17A5c.915T>C (p.Phe305=)
c.864T>C (p.Phe288=)
c.717T>C (p.Phe239=)
c.684T>C (p.Phe228=)
c.936T>C (p.Phe312=)
c.828T>C (p.Phe276=)
c.820-6420T>C (n.820-6420T>C)
c.912T>C (p.Phe304=)
c.597T>C (p.Phe199=)
6g.73621867A>TCA364713441SLC17A5c.915T>A (p.Phe305Leu)
c.864T>A (p.Phe288Leu)
c.717T>A (p.Phe239Leu)
c.684T>A (p.Phe228Leu)
c.936T>A (p.Phe312Leu)
c.828T>A (p.Phe276Leu)
c.820-6420T>A (n.820-6420T>A)
c.912T>A (p.Phe304Leu)
c.597T>A (p.Phe199Leu)
6g.73621868A>CCA364713447SLC17A5c.914T>G (p.Phe305Cys)
c.863T>G (p.Phe288Cys)
c.716T>G (p.Phe239Cys)
c.683T>G (p.Phe228Cys)
c.935T>G (p.Phe312Cys)
c.827T>G (p.Phe276Cys)
c.820-6421T>G (n.820-6421T>G)
c.911T>G (p.Phe304Cys)
c.596T>G (p.Phe199Cys)
6g.73621868A>GCA364713445SLC17A5c.914T>C (p.Phe305Ser)
c.863T>C (p.Phe288Ser)
c.716T>C (p.Phe239Ser)
c.683T>C (p.Phe228Ser)
c.935T>C (p.Phe312Ser)
c.827T>C (p.Phe276Ser)
c.820-6421T>C (n.820-6421T>C)
c.911T>C (p.Phe304Ser)
c.596T>C (p.Phe199Ser)
6g.73621868A>TCA364713443SLC17A5c.914T>A (p.Phe305Tyr)
c.863T>A (p.Phe288Tyr)
c.716T>A (p.Phe239Tyr)
c.683T>A (p.Phe228Tyr)
c.935T>A (p.Phe312Tyr)
c.827T>A (p.Phe276Tyr)
c.820-6421T>A (n.820-6421T>A)
c.911T>A (p.Phe304Tyr)
c.596T>A (p.Phe199Tyr)
6g.73621869A>CCA364713451SLC17A5c.913T>G (p.Phe305Val)
c.862T>G (p.Phe288Val)
c.715T>G (p.Phe239Val)
c.682T>G (p.Phe228Val)
c.934T>G (p.Phe312Val)
c.826T>G (p.Phe276Val)
c.820-6422T>G (n.820-6422T>G)
c.910T>G (p.Phe304Val)
c.595T>G (p.Phe199Val)
 gnomAD v4
6g.73621869A>GCA364713450SLC17A5c.913T>C (p.Phe305Leu)
c.862T>C (p.Phe288Leu)
c.715T>C (p.Phe239Leu)
c.682T>C (p.Phe228Leu)
c.934T>C (p.Phe312Leu)
c.826T>C (p.Phe276Leu)
c.820-6422T>C (n.820-6422T>C)
c.910T>C (p.Phe304Leu)
c.595T>C (p.Phe199Leu)
6g.73621869A>TCA364713454SLC17A5c.913T>A (p.Phe305Ile)
c.862T>A (p.Phe288Ile)
c.715T>A (p.Phe239Ile)
c.682T>A (p.Phe228Ile)
c.934T>A (p.Phe312Ile)
c.826T>A (p.Phe276Ile)
c.820-6422T>A (n.820-6422T>A)
c.910T>A (p.Phe304Ile)
c.595T>A (p.Phe199Ile)
6g.73621870A>CCA450910887SLC17A5c.912T>G (p.Thr304=)
c.861T>G (p.Thr287=)
c.714T>G (p.Thr238=)
c.681T>G (p.Thr227=)
c.933T>G (p.Thr311=)
c.825T>G (p.Thr275=)
c.820-6423T>G (n.820-6423T>G)
c.909T>G (p.Thr303=)
c.594T>G (p.Thr198=)
 gnomAD v4
6g.73621870A>GCA450910889SLC17A5c.912T>C (p.Thr304=)
c.861T>C (p.Thr287=)
c.714T>C (p.Thr238=)
c.681T>C (p.Thr227=)
c.933T>C (p.Thr311=)
c.825T>C (p.Thr275=)
c.820-6423T>C (n.820-6423T>C)
c.909T>C (p.Thr303=)
c.594T>C (p.Thr198=)
6g.73621870A>TCA450910888SLC17A5c.912T>A (p.Thr304=)
c.861T>A (p.Thr287=)
c.714T>A (p.Thr238=)
c.681T>A (p.Thr227=)
c.933T>A (p.Thr311=)
c.825T>A (p.Thr275=)
c.820-6423T>A (n.820-6423T>A)
c.909T>A (p.Thr303=)
c.594T>A (p.Thr198=)
6g.73621870_73621871delinsAGCA1638234784SLC17A5c.911_912delinsCT (p.Thr304=)
c.860_861delinsCT (p.Thr287=)
c.713_714delinsCT (p.Thr238=)
c.680_681delinsCT (p.Thr227=)
c.932_933delinsCT (p.Thr311=)
c.824_825delinsCT (p.Thr275=)
c.820-6424_820-6423delinsCT (n.820-6424_820-6423delinsCT)
c.908_909delinsCT (p.Thr303=)
c.593_594delinsCT (p.Thr198=)
6g.73621871delCA1638234785SLC17A5c.911del (p.Thr304IlefsTer6)
c.860del (p.Thr287IlefsTer6)
c.713del (p.Thr238IlefsTer6)
c.680del (p.Thr227IlefsTer6)
c.932del (p.Thr311IlefsTer6)
c.824del (p.Thr275IlefsTer6)
c.820-6424del (n.820-6424del)
c.908del (p.Thr303IlefsTer6)
c.593del (p.Thr198IlefsTer6)
 dbSNP
6g.73621871G>ACA364713456SLC17A5c.911C>T (p.Thr304Ile)
c.860C>T (p.Thr287Ile)
c.713C>T (p.Thr238Ile)
c.680C>T (p.Thr227Ile)
c.932C>T (p.Thr311Ile)
c.824C>T (p.Thr275Ile)
c.820-6424C>T (n.820-6424C>T)
c.908C>T (p.Thr303Ile)
c.593C>T (p.Thr198Ile)
 gnomAD v4
6g.73621871G>CCA364713458SLC17A5c.911C>G (p.Thr304Ser)
c.860C>G (p.Thr287Ser)
c.713C>G (p.Thr238Ser)
c.680C>G (p.Thr227Ser)
c.932C>G (p.Thr311Ser)
c.824C>G (p.Thr275Ser)
c.820-6424C>G (n.820-6424C>G)
c.908C>G (p.Thr303Ser)
c.593C>G (p.Thr198Ser)
6g.73621871G>TCA364713460SLC17A5c.911C>A (p.Thr304Asn)
c.860C>A (p.Thr287Asn)
c.713C>A (p.Thr238Asn)
c.680C>A (p.Thr227Asn)
c.932C>A (p.Thr311Asn)
c.824C>A (p.Thr275Asn)
c.820-6424C>A (n.820-6424C>A)
c.908C>A (p.Thr303Asn)
c.593C>A (p.Thr198Asn)
6g.73621872T>ACA364713463SLC17A5c.910A>T (p.Thr304Ser)
c.859A>T (p.Thr287Ser)
c.712A>T (p.Thr238Ser)
c.679A>T (p.Thr227Ser)
c.931A>T (p.Thr311Ser)
c.823A>T (p.Thr275Ser)
c.820-6425A>T (n.820-6425A>T)
c.907A>T (p.Thr303Ser)
c.592A>T (p.Thr198Ser)
6g.73621872T>CCA364713464SLC17A5c.910A>G (p.Thr304Ala)
c.859A>G (p.Thr287Ala)
c.712A>G (p.Thr238Ala)
c.679A>G (p.Thr227Ala)
c.931A>G (p.Thr311Ala)
c.823A>G (p.Thr275Ala)
c.820-6425A>G (n.820-6425A>G)
c.907A>G (p.Thr303Ala)
c.592A>G (p.Thr198Ala)
6g.73621872T>GCA364713466SLC17A5c.910A>C (p.Thr304Pro)
c.859A>C (p.Thr287Pro)
c.712A>C (p.Thr238Pro)
c.679A>C (p.Thr227Pro)
c.931A>C (p.Thr311Pro)
c.823A>C (p.Thr275Pro)
c.820-6425A>C (n.820-6425A>C)
c.907A>C (p.Thr303Pro)
c.592A>C (p.Thr198Pro)
6g.73621872_73621873delinsTCCA1638234786SLC17A5c.909_910delinsGA (p.Trp303=)
c.858_859delinsGA (p.Trp286=)
c.711_712delinsGA (p.Trp237=)
c.678_679delinsGA (p.Trp226=)
c.930_931delinsGA (p.Trp310=)
c.822_823delinsGA (p.Trp274=)
c.820-6426_820-6425delinsGA (n.820-6426_820-6425delinsGA)
c.906_907delinsGA (p.Trp302=)
c.591_592delinsGA (p.Trp197=)
6g.73621873C>ACA364713468SLC17A5c.909G>T (p.Trp303Cys)
c.858G>T (p.Trp286Cys)
c.711G>T (p.Trp237Cys)
c.678G>T (p.Trp226Cys)
c.930G>T (p.Trp310Cys)
c.822G>T (p.Trp274Cys)
c.820-6426G>T (n.820-6426G>T)
c.906G>T (p.Trp302Cys)
c.591G>T (p.Trp197Cys)
6g.73621873C=CA1638234787SLC17A5c.909G= (p.Trp303=)
c.858G= (p.Trp286=)
c.711G= (p.Trp237=)
c.678G= (p.Trp226=)
c.930G= (p.Trp310=)
c.822G= (p.Trp274=)
c.820-6426G= (n.820-6426G=)
c.906G= (p.Trp302=)
c.591G= (p.Trp197=)
6g.73621873C>GCA364713470SLC17A5c.909G>C (p.Trp303Cys)
c.858G>C (p.Trp286Cys)
c.711G>C (p.Trp237Cys)
c.678G>C (p.Trp226Cys)
c.930G>C (p.Trp310Cys)
c.822G>C (p.Trp274Cys)
c.820-6426G>C (n.820-6426G>C)
c.906G>C (p.Trp302Cys)
c.591G>C (p.Trp197Cys)
6g.73621873C>TCA16041081SLC17A5c.909G>A (p.Trp303Ter)
c.858G>A (p.Trp286Ter)
c.711G>A (p.Trp237Ter)
c.678G>A (p.Trp226Ter)
c.930G>A (p.Trp310Ter)
c.822G>A (p.Trp274Ter)
c.820-6426G>A (n.820-6426G>A)
c.906G>A (p.Trp302Ter)
c.591G>A (p.Trp197Ter)
 ClinVar dbSNP
6g.73621874delCA568118732SLC17A5c.909del (p.Trp303Ter)
c.858del (p.Trp286Ter)
c.711del (p.Trp237Ter)
c.678del (p.Trp226Ter)
c.930del (p.Trp310Ter)
c.822del (p.Trp274Ter)
c.820-6426del (n.820-6426del)
c.906del (p.Trp302Ter)
c.591del (p.Trp197Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.73621874C>ACA364713473SLC17A5c.908G>T (p.Trp303Leu)
c.857G>T (p.Trp286Leu)
c.710G>T (p.Trp237Leu)
c.677G>T (p.Trp226Leu)
c.929G>T (p.Trp310Leu)
c.821G>T (p.Trp274Leu)
c.820-6427G>T (n.820-6427G>T)
c.905G>T (p.Trp302Leu)
c.590G>T (p.Trp197Leu)
6g.73621874C=CA1638234788SLC17A5c.908G= (p.Trp303=)
c.857G= (p.Trp286=)
c.710G= (p.Trp237=)
c.677G= (p.Trp226=)
c.929G= (p.Trp310=)
c.821G= (p.Trp274=)
c.820-6427G= (n.820-6427G=)
c.905G= (p.Trp302=)
c.590G= (p.Trp197=)
6g.73621874C>GCA364713476SLC17A5c.908G>C (p.Trp303Ser)
c.857G>C (p.Trp286Ser)
c.710G>C (p.Trp237Ser)
c.677G>C (p.Trp226Ser)
c.929G>C (p.Trp310Ser)
c.821G>C (p.Trp274Ser)
c.820-6427G>C (n.820-6427G>C)
c.905G>C (p.Trp302Ser)
c.590G>C (p.Trp197Ser)
6g.73621874C>TCA364713478SLC17A5c.908G>A (p.Trp303Ter)
c.857G>A (p.Trp286Ter)
c.710G>A (p.Trp237Ter)
c.677G>A (p.Trp226Ter)
c.929G>A (p.Trp310Ter)
c.821G>A (p.Trp274Ter)
c.820-6427G>A (n.820-6427G>A)
c.905G>A (p.Trp302Ter)
c.590G>A (p.Trp197Ter)
 ClinVar dbSNP
6g.73621875A>CCA364713485SLC17A5c.907T>G (p.Trp303Gly)
c.856T>G (p.Trp286Gly)
c.709T>G (p.Trp237Gly)
c.676T>G (p.Trp226Gly)
c.928T>G (p.Trp310Gly)
c.820T>G (p.Trp274Gly)
c.820-6428T>G (n.820-6428T>G)
c.904T>G (p.Trp302Gly)
c.589T>G (p.Trp197Gly)
6g.73621875A>GCA364713483SLC17A5c.907T>C (p.Trp303Arg)
c.856T>C (p.Trp286Arg)
c.709T>C (p.Trp237Arg)
c.676T>C (p.Trp226Arg)
c.928T>C (p.Trp310Arg)
c.820T>C (p.Trp274Arg)
c.820-6428T>C (n.820-6428T>C)
c.904T>C (p.Trp302Arg)
c.589T>C (p.Trp197Arg)
6g.73621875A>TCA364713481SLC17A5c.907T>A (p.Trp303Arg)
c.856T>A (p.Trp286Arg)
c.709T>A (p.Trp237Arg)
c.676T>A (p.Trp226Arg)
c.928T>A (p.Trp310Arg)
c.820T>A (p.Trp274Arg)
c.820-6428T>A (n.820-6428T>A)
c.904T>A (p.Trp302Arg)
c.589T>A (p.Trp197Arg)
6g.73621876G>ACA450910890SLC17A5c.906C>T (p.Asn302=)
c.855C>T (p.Asn285=)
c.708C>T (p.Asn236=)
c.675C>T (p.Asn225=)
c.927C>T (p.Asn309=)
c.819C>T (p.Asn273=)
c.820-6429C>T (n.820-6429C>T)
c.903C>T (p.Asn301=)
c.588C>T (p.Asn196=)
6g.73621876G>CCA364713487SLC17A5c.906C>G (p.Asn302Lys)
c.855C>G (p.Asn285Lys)
c.708C>G (p.Asn236Lys)
c.675C>G (p.Asn225Lys)
c.927C>G (p.Asn309Lys)
c.819C>G (p.Asn273Lys)
c.820-6429C>G (n.820-6429C>G)
c.903C>G (p.Asn301Lys)
c.588C>G (p.Asn196Lys)
6g.73621876G>TCA364713489SLC17A5c.906C>A (p.Asn302Lys)
c.855C>A (p.Asn285Lys)
c.708C>A (p.Asn236Lys)
c.675C>A (p.Asn225Lys)
c.927C>A (p.Asn309Lys)
c.819C>A (p.Asn273Lys)
c.820-6429C>A (n.820-6429C>A)
c.903C>A (p.Asn301Lys)
c.588C>A (p.Asn196Lys)
 COSMIC
6g.73621876_73621877delinsGTCA1638234789SLC17A5c.905_906delinsAC (p.Asn302=)
c.854_855delinsAC (p.Asn285=)
c.707_708delinsAC (p.Asn236=)
c.674_675delinsAC (p.Asn225=)
c.926_927delinsAC (p.Asn309=)
c.818_819delinsAC (p.Asn273=)
c.820-6430_820-6429delinsAC (n.820-6430_820-6429delinsAC)
c.902_903delinsAC (p.Asn301=)
c.587_588delinsAC (p.Asn196=)
6g.73621877T>ACA364713493SLC17A5c.905A>T (p.Asn302Ile)
c.854A>T (p.Asn285Ile)
c.707A>T (p.Asn236Ile)
c.674A>T (p.Asn225Ile)
c.926A>T (p.Asn309Ile)
c.818A>T (p.Asn273Ile)
c.820-6430A>T (n.820-6430A>T)
c.902A>T (p.Asn301Ile)
c.587A>T (p.Asn196Ile)
6g.73621877T>CCA364713495SLC17A5c.905A>G (p.Asn302Ser)
c.854A>G (p.Asn285Ser)
c.707A>G (p.Asn236Ser)
c.674A>G (p.Asn225Ser)
c.926A>G (p.Asn309Ser)
c.818A>G (p.Asn273Ser)
c.820-6430A>G (n.820-6430A>G)
c.902A>G (p.Asn301Ser)
c.587A>G (p.Asn196Ser)
6g.73621877T>GCA364713497SLC17A5c.905A>C (p.Asn302Thr)
c.854A>C (p.Asn285Thr)
c.707A>C (p.Asn236Thr)
c.674A>C (p.Asn225Thr)
c.926A>C (p.Asn309Thr)
c.818A>C (p.Asn273Thr)
c.820-6430A>C (n.820-6430A>C)
c.902A>C (p.Asn301Thr)
c.587A>C (p.Asn196Thr)
6g.73621878delCA3890396SLC17A5c.905del (p.Asn302ThrfsTer8)
c.854del (p.Asn285ThrfsTer8)
c.707del (p.Asn236ThrfsTer8)
c.674del (p.Asn225ThrfsTer8)
c.926del (p.Asn309ThrfsTer8)
c.818del (p.Asn273ThrfsTer8)
c.820-6430del (n.820-6430del)
c.902del (p.Asn301ThrfsTer8)
c.587del (p.Asn196ThrfsTer8)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621878T>ACA364713503SLC17A5c.904A>T (p.Asn302Tyr)
c.853A>T (p.Asn285Tyr)
c.706A>T (p.Asn236Tyr)
c.673A>T (p.Asn225Tyr)
c.925A>T (p.Asn309Tyr)
c.817A>T (p.Asn273Tyr)
c.820-6431A>T (n.820-6431A>T)
c.901A>T (p.Asn301Tyr)
c.586A>T (p.Asn196Tyr)
6g.73621878T>CCA364713505SLC17A5c.904A>G (p.Asn302Asp)
c.853A>G (p.Asn285Asp)
c.706A>G (p.Asn236Asp)
c.673A>G (p.Asn225Asp)
c.925A>G (p.Asn309Asp)
c.817A>G (p.Asn273Asp)
c.820-6431A>G (n.820-6431A>G)
c.901A>G (p.Asn301Asp)
c.586A>G (p.Asn196Asp)
6g.73621878T>GCA364713507SLC17A5c.904A>C (p.Asn302His)
c.853A>C (p.Asn285His)
c.706A>C (p.Asn236His)
c.673A>C (p.Asn225His)
c.925A>C (p.Asn309His)
c.817A>C (p.Asn273His)
c.820-6431A>C (n.820-6431A>C)
c.901A>C (p.Asn301His)
c.586A>C (p.Asn196His)
6g.73621879G>ACA450910891SLC17A5c.903C>T (p.Tyr301=)
c.852C>T (p.Tyr284=)
c.705C>T (p.Tyr235=)
c.672C>T (p.Tyr224=)
c.924C>T (p.Tyr308=)
c.816C>T (p.Tyr272=)
c.820-6432C>T (n.820-6432C>T)
c.900C>T (p.Tyr300=)
c.585C>T (p.Tyr195=)
 dbSNP
6g.73621879G>CCA364713510SLC17A5c.903C>G (p.Tyr301Ter)
c.852C>G (p.Tyr284Ter)
c.705C>G (p.Tyr235Ter)
c.672C>G (p.Tyr224Ter)
c.924C>G (p.Tyr308Ter)
c.816C>G (p.Tyr272Ter)
c.820-6432C>G (n.820-6432C>G)
c.900C>G (p.Tyr300Ter)
c.585C>G (p.Tyr195Ter)
 ClinVar
6g.73621879G=CA1638234790SLC17A5c.903C= (p.Tyr301=)
c.852C= (p.Tyr284=)
c.705C= (p.Tyr235=)
c.672C= (p.Tyr224=)
c.924C= (p.Tyr308=)
c.816C= (p.Tyr272=)
c.820-6432C= (n.820-6432C=)
c.900C= (p.Tyr300=)
c.585C= (p.Tyr195=)
6g.73621879G>TCA364713512SLC17A5c.903C>A (p.Tyr301Ter)
c.852C>A (p.Tyr284Ter)
c.705C>A (p.Tyr235Ter)
c.672C>A (p.Tyr224Ter)
c.924C>A (p.Tyr308Ter)
c.816C>A (p.Tyr272Ter)
c.820-6432C>A (n.820-6432C>A)
c.900C>A (p.Tyr300Ter)
c.585C>A (p.Tyr195Ter)
 ClinVar
6g.73621880T>ACA364713518SLC17A5c.902A>T (p.Tyr301Phe)
c.851A>T (p.Tyr284Phe)
c.704A>T (p.Tyr235Phe)
c.671A>T (p.Tyr224Phe)
c.923A>T (p.Tyr308Phe)
c.815A>T (p.Tyr272Phe)
c.820-6433A>T (n.820-6433A>T)
c.899A>T (p.Tyr300Phe)
c.584A>T (p.Tyr195Phe)
6g.73621880T>CCA364713516SLC17A5c.902A>G (p.Tyr301Cys)
c.851A>G (p.Tyr284Cys)
c.704A>G (p.Tyr235Cys)
c.671A>G (p.Tyr224Cys)
c.923A>G (p.Tyr308Cys)
c.815A>G (p.Tyr272Cys)
c.820-6433A>G (n.820-6433A>G)
c.899A>G (p.Tyr300Cys)
c.584A>G (p.Tyr195Cys)
 dbSNP gnomAD v3 gnomAD v4
6g.73621880T>GCA364713514SLC17A5c.902A>C (p.Tyr301Ser)
c.851A>C (p.Tyr284Ser)
c.704A>C (p.Tyr235Ser)
c.671A>C (p.Tyr224Ser)
c.923A>C (p.Tyr308Ser)
c.815A>C (p.Tyr272Ser)
c.820-6433A>C (n.820-6433A>C)
c.899A>C (p.Tyr300Ser)
c.584A>C (p.Tyr195Ser)
6g.73621880T=CA1638234791SLC17A5c.902A= (p.Tyr301=)
c.851A= (p.Tyr284=)
c.704A= (p.Tyr235=)
c.671A= (p.Tyr224=)
c.923A= (p.Tyr308=)
c.815A= (p.Tyr272=)
c.820-6433A= (n.820-6433A=)
c.899A= (p.Tyr300=)
c.584A= (p.Tyr195=)
6g.73621881A>CCA364713520SLC17A5c.901T>G (p.Tyr301Asp)
c.850T>G (p.Tyr284Asp)
c.703T>G (p.Tyr235Asp)
c.670T>G (p.Tyr224Asp)
c.922T>G (p.Tyr308Asp)
c.814T>G (p.Tyr272Asp)
c.820-6434T>G (n.820-6434T>G)
c.898T>G (p.Tyr300Asp)
c.583T>G (p.Tyr195Asp)
6g.73621881A>GCA364713523SLC17A5c.901T>C (p.Tyr301His)
c.850T>C (p.Tyr284His)
c.703T>C (p.Tyr235His)
c.670T>C (p.Tyr224His)
c.922T>C (p.Tyr308His)
c.814T>C (p.Tyr272His)
c.820-6434T>C (n.820-6434T>C)
c.898T>C (p.Tyr300His)
c.583T>C (p.Tyr195His)
6g.73621881A>TCA364713524SLC17A5c.901T>A (p.Tyr301Asn)
c.850T>A (p.Tyr284Asn)
c.703T>A (p.Tyr235Asn)
c.670T>A (p.Tyr224Asn)
c.922T>A (p.Tyr308Asn)
c.814T>A (p.Tyr272Asn)
c.820-6434T>A (n.820-6434T>A)
c.898T>A (p.Tyr300Asn)
c.583T>A (p.Tyr195Asn)
6g.73621882A>CCA450910892SLC17A5c.900T>G (p.Ser300=)
c.849T>G (p.Ser283=)
c.702T>G (p.Ser234=)
c.669T>G (p.Ser223=)
c.921T>G (p.Ser307=)
c.813T>G (p.Ser271=)
c.820-6435T>G (n.820-6435T>G)
c.897T>G (p.Ser299=)
c.582T>G (p.Ser194=)
6g.73621882A>GCA450910893SLC17A5c.900T>C (p.Ser300=)
c.849T>C (p.Ser283=)
c.702T>C (p.Ser234=)
c.669T>C (p.Ser223=)
c.921T>C (p.Ser307=)
c.813T>C (p.Ser271=)
c.820-6435T>C (n.820-6435T>C)
c.897T>C (p.Ser299=)
c.582T>C (p.Ser194=)
6g.73621882A>TCA450910894SLC17A5c.900T>A (p.Ser300=)
c.849T>A (p.Ser283=)
c.702T>A (p.Ser234=)
c.669T>A (p.Ser223=)
c.921T>A (p.Ser307=)
c.813T>A (p.Ser271=)
c.820-6435T>A (n.820-6435T>A)
c.897T>A (p.Ser299=)
c.582T>A (p.Ser194=)
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=)
6g.73621897T>CCA450910903SLC17A5c.885A>G (p.Val295=)
c.834A>G (p.Val278=)
c.687A>G (p.Val229=)
c.654A>G (p.Val218=)
c.906A>G (p.Val302=)
c.798A>G (p.Val266=)
c.820-6450A>G (n.820-6450A>G)
c.882A>G (p.Val294=)
c.567A>G (p.Val189=)
 gnomAD v4
6g.73621897T>GCA450910904SLC17A5c.885A>C (p.Val295=)
c.834A>C (p.Val278=)
c.687A>C (p.Val229=)
c.654A>C (p.Val218=)
c.906A>C (p.Val302=)
c.798A>C (p.Val266=)
c.820-6450A>C (n.820-6450A>C)
c.882A>C (p.Val294=)
c.567A>C (p.Val189=)
6g.73621898A>CCA364713590SLC17A5c.884T>G (p.Val295Gly)
c.833T>G (p.Val278Gly)
c.686T>G (p.Val229Gly)
c.653T>G (p.Val218Gly)
c.905T>G (p.Val302Gly)
c.797T>G (p.Val266Gly)
c.820-6451T>G (n.820-6451T>G)
c.881T>G (p.Val294Gly)
c.566T>G (p.Val189Gly)
6g.73621898A>GCA364713592SLC17A5c.884T>C (p.Val295Ala)
c.833T>C (p.Val278Ala)
c.686T>C (p.Val229Ala)
c.653T>C (p.Val218Ala)
c.905T>C (p.Val302Ala)
c.797T>C (p.Val266Ala)
c.820-6451T>C (n.820-6451T>C)
c.881T>C (p.Val294Ala)
c.566T>C (p.Val189Ala)
6g.73621898A>TCA364713594SLC17A5c.884T>A (p.Val295Glu)
c.833T>A (p.Val278Glu)
c.686T>A (p.Val229Glu)
c.653T>A (p.Val218Glu)
c.905T>A (p.Val302Glu)
c.797T>A (p.Val266Glu)
c.820-6451T>A (n.820-6451T>A)
c.881T>A (p.Val294Glu)
c.566T>A (p.Val189Glu)
6g.73621899C>ACA364713596SLC17A5c.883G>T (p.Val295Leu)
c.832G>T (p.Val278Leu)
c.685G>T (p.Val229Leu)
c.652G>T (p.Val218Leu)
c.904G>T (p.Val302Leu)
c.796G>T (p.Val266Leu)
c.820-6452G>T (n.820-6452G>T)
c.880G>T (p.Val294Leu)
c.565G>T (p.Val189Leu)
6g.73621899C=CA1638234798SLC17A5c.883G= (p.Val295=)
c.832G= (p.Val278=)
c.685G= (p.Val229=)
c.652G= (p.Val218=)
c.904G= (p.Val302=)
c.796G= (p.Val266=)
c.820-6452G= (n.820-6452G=)
c.880G= (p.Val294=)
c.565G= (p.Val189=)
6g.73621899C>GCA364713597SLC17A5c.883G>C (p.Val295Leu)
c.832G>C (p.Val278Leu)
c.685G>C (p.Val229Leu)
c.652G>C (p.Val218Leu)
c.904G>C (p.Val302Leu)
c.796G>C (p.Val266Leu)
c.820-6452G>C (n.820-6452G>C)
c.880G>C (p.Val294Leu)
c.565G>C (p.Val189Leu)
6g.73621899C>TCA3890400SLC17A5c.883G>A (p.Val295Ile)
c.832G>A (p.Val278Ile)
c.685G>A (p.Val229Ile)
c.652G>A (p.Val218Ile)
c.904G>A (p.Val302Ile)
c.796G>A (p.Val266Ile)
c.820-6452G>A (n.820-6452G>A)
c.880G>A (p.Val294Ile)
c.565G>A (p.Val189Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621900G>ACA450910907SLC17A5c.882C>T (p.Ile294=)
c.831C>T (p.Ile277=)
c.684C>T (p.Ile228=)
c.651C>T (p.Ile217=)
c.903C>T (p.Ile301=)
c.795C>T (p.Ile265=)
c.820-6453C>T (n.820-6453C>T)
c.879C>T (p.Ile293=)
c.564C>T (p.Ile188=)
 ClinVar dbSNP gnomAD v4 COSMIC
6g.73621900G>CCA364713602SLC17A5c.882C>G (p.Ile294Met)
c.831C>G (p.Ile277Met)
c.684C>G (p.Ile228Met)
c.651C>G (p.Ile217Met)
c.903C>G (p.Ile301Met)
c.795C>G (p.Ile265Met)
c.820-6453C>G (n.820-6453C>G)
c.879C>G (p.Ile293Met)
c.564C>G (p.Ile188Met)
6g.73621900G=CA1638234799SLC17A5c.882C= (p.Ile294=)
c.831C= (p.Ile277=)
c.684C= (p.Ile228=)
c.651C= (p.Ile217=)
c.903C= (p.Ile301=)
c.795C= (p.Ile265=)
c.820-6453C= (n.820-6453C=)
c.879C= (p.Ile293=)
c.564C= (p.Ile188=)
6g.73621900G>TCA450910906SLC17A5c.882C>A (p.Ile294=)
c.831C>A (p.Ile277=)
c.684C>A (p.Ile228=)
c.651C>A (p.Ile217=)
c.903C>A (p.Ile301=)
c.795C>A (p.Ile265=)
c.820-6453C>A (n.820-6453C>A)
c.879C>A (p.Ile293=)
c.564C>A (p.Ile188=)
6g.73621901A=CA1638234800SLC17A5c.881T= (p.Ile294=)
c.830T= (p.Ile277=)
c.683T= (p.Ile228=)
c.650T= (p.Ile217=)
c.902T= (p.Ile301=)
c.794T= (p.Ile265=)
c.820-6454T= (n.820-6454T=)
c.878T= (p.Ile293=)
c.563T= (p.Ile188=)
6g.73621901A>CCA364713604SLC17A5c.881T>G (p.Ile294Ser)
c.830T>G (p.Ile277Ser)
c.683T>G (p.Ile228Ser)
c.650T>G (p.Ile217Ser)
c.902T>G (p.Ile301Ser)
c.794T>G (p.Ile265Ser)
c.820-6454T>G (n.820-6454T>G)
c.878T>G (p.Ile293Ser)
c.563T>G (p.Ile188Ser)
6g.73621901A>GCA364713606SLC17A5c.881T>C (p.Ile294Thr)
c.830T>C (p.Ile277Thr)
c.683T>C (p.Ile228Thr)
c.650T>C (p.Ile217Thr)
c.902T>C (p.Ile301Thr)
c.794T>C (p.Ile265Thr)
c.820-6454T>C (n.820-6454T>C)
c.878T>C (p.Ile293Thr)
c.563T>C (p.Ile188Thr)
 dbSNP
6g.73621901A>TCA364713608SLC17A5c.881T>A (p.Ile294Asn)
c.830T>A (p.Ile277Asn)
c.683T>A (p.Ile228Asn)
c.650T>A (p.Ile217Asn)
c.902T>A (p.Ile301Asn)
c.794T>A (p.Ile265Asn)
c.820-6454T>A (n.820-6454T>A)
c.878T>A (p.Ile293Asn)
c.563T>A (p.Ile188Asn)
6g.73621902T>ACA364713613SLC17A5c.880A>T (p.Ile294Phe)
c.829A>T (p.Ile277Phe)
c.682A>T (p.Ile228Phe)
c.649A>T (p.Ile217Phe)
c.901A>T (p.Ile301Phe)
c.793A>T (p.Ile265Phe)
c.820-6455A>T (n.820-6455A>T)
c.877A>T (p.Ile293Phe)
c.562A>T (p.Ile188Phe)
6g.73621902T>CCA364713611SLC17A5c.880A>G (p.Ile294Val)
c.829A>G (p.Ile277Val)
c.682A>G (p.Ile228Val)
c.649A>G (p.Ile217Val)
c.901A>G (p.Ile301Val)
c.793A>G (p.Ile265Val)
c.820-6455A>G (n.820-6455A>G)
c.877A>G (p.Ile293Val)
c.562A>G (p.Ile188Val)
 dbSNP
6g.73621902T>GCA3890401SLC17A5c.880A>C (p.Ile294Leu)
c.829A>C (p.Ile277Leu)
c.682A>C (p.Ile228Leu)
c.649A>C (p.Ile217Leu)
c.901A>C (p.Ile301Leu)
c.793A>C (p.Ile265Leu)
c.820-6455A>C (n.820-6455A>C)
c.877A>C (p.Ile293Leu)
c.562A>C (p.Ile188Leu)
 ClinVar dbSNP ExAC gnomAD v2
6g.73621902T=CA1638234801SLC17A5c.880A= (p.Ile294=)
c.829A= (p.Ile277=)
c.682A= (p.Ile228=)
c.649A= (p.Ile217=)
c.901A= (p.Ile301=)
c.793A= (p.Ile265=)
c.820-6455A= (n.820-6455A=)
c.877A= (p.Ile293=)
c.562A= (p.Ile188=)
6g.73621903A=CA1638234802SLC17A5c.879T= (p.Ala293=)
c.828T= (p.Ala276=)
c.681T= (p.Ala227=)
c.648T= (p.Ala216=)
c.900T= (p.Ala300=)
c.792T= (p.Ala264=)
c.820-6456T= (n.820-6456T=)
c.876T= (p.Ala292=)
c.561T= (p.Ala187=)
6g.73621903A>CCA450910908SLC17A5c.879T>G (p.Ala293=)
c.828T>G (p.Ala276=)
c.681T>G (p.Ala227=)
c.648T>G (p.Ala216=)
c.900T>G (p.Ala300=)
c.792T>G (p.Ala264=)
c.820-6456T>G (n.820-6456T>G)
c.876T>G (p.Ala292=)
c.561T>G (p.Ala187=)
6g.73621903A>GCA3890402SLC17A5c.879T>C (p.Ala293=)
c.828T>C (p.Ala276=)
c.681T>C (p.Ala227=)
c.648T>C (p.Ala216=)
c.900T>C (p.Ala300=)
c.792T>C (p.Ala264=)
c.820-6456T>C (n.820-6456T>C)
c.876T>C (p.Ala292=)
c.561T>C (p.Ala187=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73621903A>TCA450910909SLC17A5c.879T>A (p.Ala293=)
c.828T>A (p.Ala276=)
c.681T>A (p.Ala227=)
c.648T>A (p.Ala216=)
c.900T>A (p.Ala300=)
c.792T>A (p.Ala264=)
c.820-6456T>A (n.820-6456T>A)
c.876T>A (p.Ala292=)
c.561T>A (p.Ala187=)
6g.73621904G>ACA364713619SLC17A5c.878C>T (p.Ala293Val)
c.827C>T (p.Ala276Val)
c.680C>T (p.Ala227Val)
c.647C>T (p.Ala216Val)
c.899C>T (p.Ala300Val)
c.791C>T (p.Ala264Val)
c.820-6457C>T (n.820-6457C>T)
c.875C>T (p.Ala292Val)
c.560C>T (p.Ala187Val)
6g.73621904G>CCA364713621SLC17A5c.878C>G (p.Ala293Gly)
c.827C>G (p.Ala276Gly)
c.680C>G (p.Ala227Gly)
c.647C>G (p.Ala216Gly)
c.899C>G (p.Ala300Gly)
c.791C>G (p.Ala264Gly)
c.820-6457C>G (n.820-6457C>G)
c.875C>G (p.Ala292Gly)
c.560C>G (p.Ala187Gly)
6g.73621904G>TCA364713623SLC17A5c.878C>A (p.Ala293Asp)
c.827C>A (p.Ala276Asp)
c.680C>A (p.Ala227Asp)
c.647C>A (p.Ala216Asp)
c.899C>A (p.Ala300Asp)
c.791C>A (p.Ala264Asp)
c.820-6457C>A (n.820-6457C>A)
c.875C>A (p.Ala292Asp)
c.560C>A (p.Ala187Asp)
6g.73621905C>ACA364713625SLC17A5c.877G>T (p.Ala293Ser)
c.826G>T (p.Ala276Ser)
c.679G>T (p.Ala227Ser)
c.646G>T (p.Ala216Ser)
c.898G>T (p.Ala300Ser)
c.790G>T (p.Ala264Ser)
c.820-6458G>T (n.820-6458G>T)
c.874G>T (p.Ala292Ser)
c.559G>T (p.Ala187Ser)
 gnomAD v4
6g.73621905C>GCA364713627SLC17A5c.877G>C (p.Ala293Pro)
c.826G>C (p.Ala276Pro)
c.679G>C (p.Ala227Pro)
c.646G>C (p.Ala216Pro)
c.898G>C (p.Ala300Pro)
c.790G>C (p.Ala264Pro)
c.820-6458G>C (n.820-6458G>C)
c.874G>C (p.Ala292Pro)
c.559G>C (p.Ala187Pro)
6g.73621905C>TCA364713630SLC17A5c.877G>A (p.Ala293Thr)
c.826G>A (p.Ala276Thr)
c.679G>A (p.Ala227Thr)
c.646G>A (p.Ala216Thr)
c.898G>A (p.Ala300Thr)
c.790G>A (p.Ala264Thr)
c.820-6458G>A (n.820-6458G>A)
c.874G>A (p.Ala292Thr)
c.559G>A (p.Ala187Thr)
 gnomAD v4
6g.73621906C>ACA364713631SLC17A5c.876G>T (p.Trp292Cys)
c.825G>T (p.Trp275Cys)
c.678G>T (p.Trp226Cys)
c.645G>T (p.Trp215Cys)
c.897G>T (p.Trp299Cys)
c.789G>T (p.Trp263Cys)
c.820-6459G>T (n.820-6459G>T)
c.873G>T (p.Trp291Cys)
c.558G>T (p.Trp186Cys)
6g.73621906C>GCA364713634SLC17A5c.876G>C (p.Trp292Cys)
c.825G>C (p.Trp275Cys)
c.678G>C (p.Trp226Cys)
c.645G>C (p.Trp215Cys)
c.897G>C (p.Trp299Cys)
c.789G>C (p.Trp263Cys)
c.820-6459G>C (n.820-6459G>C)
c.873G>C (p.Trp291Cys)
c.558G>C (p.Trp186Cys)
6g.73621906C>TCA364713636SLC17A5c.876G>A (p.Trp292Ter)
c.825G>A (p.Trp275Ter)
c.678G>A (p.Trp226Ter)
c.645G>A (p.Trp215Ter)
c.897G>A (p.Trp299Ter)
c.789G>A (p.Trp263Ter)
c.820-6459G>A (n.820-6459G>A)
c.873G>A (p.Trp291Ter)
c.558G>A (p.Trp186Ter)
6g.73621907C>ACA364713641SLC17A5c.875G>T (p.Trp292Leu)
c.824G>T (p.Trp275Leu)
c.677G>T (p.Trp226Leu)
c.644G>T (p.Trp215Leu)
c.896G>T (p.Trp299Leu)
c.788G>T (p.Trp263Leu)
c.820-6460G>T (n.820-6460G>T)
c.872G>T (p.Trp291Leu)
c.557G>T (p.Trp186Leu)
6g.73621907C>GCA364713643SLC17A5c.875G>C (p.Trp292Ser)
c.824G>C (p.Trp275Ser)
c.677G>C (p.Trp226Ser)
c.644G>C (p.Trp215Ser)
c.896G>C (p.Trp299Ser)
c.788G>C (p.Trp263Ser)
c.820-6460G>C (n.820-6460G>C)
c.872G>C (p.Trp291Ser)
c.557G>C (p.Trp186Ser)
6g.73621907C>TCA364713639SLC17A5c.875G>A (p.Trp292Ter)
c.824G>A (p.Trp275Ter)
c.677G>A (p.Trp226Ter)
c.644G>A (p.Trp215Ter)
c.896G>A (p.Trp299Ter)
c.788G>A (p.Trp263Ter)
c.820-6460G>A (n.820-6460G>A)
c.872G>A (p.Trp291Ter)
c.557G>A (p.Trp186Ter)
 gnomAD v4
6g.73621908A>CCA364713646SLC17A5c.874T>G (p.Trp292Gly)
c.823T>G (p.Trp275Gly)
c.676T>G (p.Trp226Gly)
c.643T>G (p.Trp215Gly)
c.895T>G (p.Trp299Gly)
c.787T>G (p.Trp263Gly)
c.820-6461T>G (n.820-6461T>G)
c.871T>G (p.Trp291Gly)
c.556T>G (p.Trp186Gly)
6g.73621908A>GCA364713647SLC17A5c.874T>C (p.Trp292Arg)
c.823T>C (p.Trp275Arg)
c.676T>C (p.Trp226Arg)
c.643T>C (p.Trp215Arg)
c.895T>C (p.Trp299Arg)
c.787T>C (p.Trp263Arg)
c.820-6461T>C (n.820-6461T>C)
c.871T>C (p.Trp291Arg)
c.556T>C (p.Trp186Arg)
 dbSNP
6g.73621908A>TCA364713648SLC17A5c.874T>A (p.Trp292Arg)
c.823T>A (p.Trp275Arg)
c.676T>A (p.Trp226Arg)
c.643T>A (p.Trp215Arg)
c.895T>A (p.Trp299Arg)
c.787T>A (p.Trp263Arg)
c.820-6461T>A (n.820-6461T>A)
c.871T>A (p.Trp291Arg)
c.556T>A (p.Trp186Arg)
6g.73621909A=CA1638234803SLC17A5c.873T= (p.Leu291=)
c.822T= (p.Leu274=)
c.675T= (p.Leu225=)
c.642T= (p.Leu214=)
c.894T= (p.Leu298=)
c.786T= (p.Leu262=)
c.820-6462T= (n.820-6462T=)
c.870T= (p.Leu290=)
c.555T= (p.Leu185=)
6g.73621909A>CCA450910910SLC17A5c.873T>G (p.Leu291=)
c.822T>G (p.Leu274=)
c.675T>G (p.Leu225=)
c.642T>G (p.Leu214=)
c.894T>G (p.Leu298=)
c.786T>G (p.Leu262=)
c.820-6462T>G (n.820-6462T>G)
c.870T>G (p.Leu290=)
c.555T>G (p.Leu185=)
 dbSNP gnomAD v2 gnomAD v4
6g.73621909A>GCA3890403SLC17A5c.873T>C (p.Leu291=)
c.822T>C (p.Leu274=)
c.675T>C (p.Leu225=)
c.642T>C (p.Leu214=)
c.894T>C (p.Leu298=)
c.786T>C (p.Leu262=)
c.820-6462T>C (n.820-6462T>C)
c.870T>C (p.Leu290=)
c.555T>C (p.Leu185=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73621909A>TCA450910911SLC17A5c.873T>A (p.Leu291=)
c.822T>A (p.Leu274=)
c.675T>A (p.Leu225=)
c.642T>A (p.Leu214=)
c.894T>A (p.Leu298=)
c.786T>A (p.Leu262=)
c.820-6462T>A (n.820-6462T>A)
c.870T>A (p.Leu290=)
c.555T>A (p.Leu185=)
6g.73621910A=CA1638234804SLC17A5c.872T= (p.Leu291=)
c.821T= (p.Leu274=)
c.674T= (p.Leu225=)
c.641T= (p.Leu214=)
c.893T= (p.Leu298=)
c.785T= (p.Leu262=)
c.820-6463T= (n.820-6463T=)
c.869T= (p.Leu290=)
c.554T= (p.Leu185=)
6g.73621910A>CCA364713651SLC17A5c.872T>G (p.Leu291Arg)
c.821T>G (p.Leu274Arg)
c.674T>G (p.Leu225Arg)
c.641T>G (p.Leu214Arg)
c.893T>G (p.Leu298Arg)
c.785T>G (p.Leu262Arg)
c.820-6463T>G (n.820-6463T>G)
c.869T>G (p.Leu290Arg)
c.554T>G (p.Leu185Arg)
6g.73621910A>GCA364713650SLC17A5c.872T>C (p.Leu291Pro)
c.821T>C (p.Leu274Pro)
c.674T>C (p.Leu225Pro)
c.641T>C (p.Leu214Pro)
c.893T>C (p.Leu298Pro)
c.785T>C (p.Leu262Pro)
c.820-6463T>C (n.820-6463T>C)
c.869T>C (p.Leu290Pro)
c.554T>C (p.Leu185Pro)
6g.73621910A>TCA364713649SLC17A5c.872T>A (p.Leu291His)
c.821T>A (p.Leu274His)
c.674T>A (p.Leu225His)
c.641T>A (p.Leu214His)
c.893T>A (p.Leu298His)
c.785T>A (p.Leu262His)
c.820-6463T>A (n.820-6463T>A)
c.869T>A (p.Leu290His)
c.554T>A (p.Leu185His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73621911G>ACA364713652SLC17A5c.871C>T (p.Leu291Phe)
c.820C>T (p.Leu274Phe)
c.673C>T (p.Leu225Phe)
c.640C>T (p.Leu214Phe)
c.892C>T (p.Leu298Phe)
c.784C>T (p.Leu262Phe)
c.820-6464C>T (n.820-6464C>T)
c.868C>T (p.Leu290Phe)
c.553C>T (p.Leu185Phe)
 dbSNP
6g.73621911G>CCA364713653SLC17A5c.871C>G (p.Leu291Val)
c.820C>G (p.Leu274Val)
c.673C>G (p.Leu225Val)
c.640C>G (p.Leu214Val)
c.892C>G (p.Leu298Val)
c.784C>G (p.Leu262Val)
c.820-6464C>G (n.820-6464C>G)
c.868C>G (p.Leu290Val)
c.553C>G (p.Leu185Val)
6g.73621911G>TCA364713654SLC17A5c.871C>A (p.Leu291Ile)
c.820C>A (p.Leu274Ile)
c.673C>A (p.Leu225Ile)
c.640C>A (p.Leu214Ile)
c.892C>A (p.Leu298Ile)
c.784C>A (p.Leu262Ile)
c.820-6464C>A (n.820-6464C>A)
c.868C>A (p.Leu290Ile)
c.553C>A (p.Leu185Ile)
6g.73621912T>ACA450910912SLC17A5c.870A>T (p.Pro290=)
c.819A>T (p.Pro273=)
c.672A>T (p.Pro224=)
c.639A>T (p.Pro213=)
c.891A>T (p.Pro297=)
c.783A>T (p.Pro261=)
c.820-6465A>T (n.820-6465A>T)
c.867A>T (p.Pro289=)
c.552A>T (p.Pro184=)
6g.73621912T>CCA450910913SLC17A5c.870A>G (p.Pro290=)
c.819A>G (p.Pro273=)
c.672A>G (p.Pro224=)
c.639A>G (p.Pro213=)
c.891A>G (p.Pro297=)
c.783A>G (p.Pro261=)
c.820-6465A>G (n.820-6465A>G)
c.867A>G (p.Pro289=)
c.552A>G (p.Pro184=)
6g.73621912T>GCA450910914SLC17A5c.870A>C (p.Pro290=)
c.819A>C (p.Pro273=)
c.672A>C (p.Pro224=)
c.639A>C (p.Pro213=)
c.891A>C (p.Pro297=)
c.783A>C (p.Pro261=)
c.820-6465A>C (n.820-6465A>C)
c.867A>C (p.Pro289=)
c.552A>C (p.Pro184=)

Number of alleles fetched