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.73621808T>ACA364713173SLC17A5c.974A>T (p.Gln325Leu)
c.923A>T (p.Gln308Leu)
c.776A>T (p.Gln259Leu)
c.743A>T (p.Gln248Leu)
c.995A>T (p.Gln332Leu)
c.887A>T (p.Gln296Leu)
c.820-6361A>T (n.820-6361A>T)
c.971A>T (p.Gln324Leu)
c.656A>T (p.Gln219Leu)
6g.73621808T>CCA364713174SLC17A5c.974A>G (p.Gln325Arg)
c.923A>G (p.Gln308Arg)
c.776A>G (p.Gln259Arg)
c.743A>G (p.Gln248Arg)
c.995A>G (p.Gln332Arg)
c.887A>G (p.Gln296Arg)
c.820-6361A>G (n.820-6361A>G)
c.971A>G (p.Gln324Arg)
c.656A>G (p.Gln219Arg)
6g.73621808T>GCA3890387SLC17A5c.974A>C (p.Gln325Pro)
c.923A>C (p.Gln308Pro)
c.776A>C (p.Gln259Pro)
c.743A>C (p.Gln248Pro)
c.995A>C (p.Gln332Pro)
c.887A>C (p.Gln296Pro)
c.820-6361A>C (n.820-6361A>C)
c.971A>C (p.Gln324Pro)
c.656A>C (p.Gln219Pro)
 dbSNP ExAC gnomAD v2
6g.73621808T=CA1638234766SLC17A5c.974A= (p.Gln325=)
c.923A= (p.Gln308=)
c.776A= (p.Gln259=)
c.743A= (p.Gln248=)
c.995A= (p.Gln332=)
c.887A= (p.Gln296=)
c.820-6361A= (n.820-6361A=)
c.971A= (p.Gln324=)
c.656A= (p.Gln219=)
6g.73621809G>ACA364713175SLC17A5c.973C>T (p.Gln325Ter)
c.922C>T (p.Gln308Ter)
c.775C>T (p.Gln259Ter)
c.742C>T (p.Gln248Ter)
c.994C>T (p.Gln332Ter)
c.886C>T (p.Gln296Ter)
c.820-6362C>T (n.820-6362C>T)
c.970C>T (p.Gln324Ter)
c.655C>T (p.Gln219Ter)
6g.73621809G>CCA364713176SLC17A5c.973C>G (p.Gln325Glu)
c.922C>G (p.Gln308Glu)
c.775C>G (p.Gln259Glu)
c.742C>G (p.Gln248Glu)
c.994C>G (p.Gln332Glu)
c.886C>G (p.Gln296Glu)
c.820-6362C>G (n.820-6362C>G)
c.970C>G (p.Gln324Glu)
c.655C>G (p.Gln219Glu)
6g.73621809G>TCA364713177SLC17A5c.973C>A (p.Gln325Lys)
c.922C>A (p.Gln308Lys)
c.775C>A (p.Gln259Lys)
c.742C>A (p.Gln248Lys)
c.994C>A (p.Gln332Lys)
c.886C>A (p.Gln296Lys)
c.820-6362C>A (n.820-6362C>A)
c.970C>A (p.Gln324Lys)
c.655C>A (p.Gln219Lys)
 gnomAD v4
6g.73621810A>CCA450910852SLC17A5c.972T>G (p.Val324=)
c.921T>G (p.Val307=)
c.774T>G (p.Val258=)
c.741T>G (p.Val247=)
c.993T>G (p.Val331=)
c.885T>G (p.Val295=)
c.820-6363T>G (n.820-6363T>G)
c.969T>G (p.Val323=)
c.654T>G (p.Val218=)
6g.73621810A>GCA450910853SLC17A5c.972T>C (p.Val324=)
c.921T>C (p.Val307=)
c.774T>C (p.Val258=)
c.741T>C (p.Val247=)
c.993T>C (p.Val331=)
c.885T>C (p.Val295=)
c.820-6363T>C (n.820-6363T>C)
c.969T>C (p.Val323=)
c.654T>C (p.Val218=)
 ClinVar
6g.73621810A>TCA450910854SLC17A5c.972T>A (p.Val324=)
c.921T>A (p.Val307=)
c.774T>A (p.Val258=)
c.741T>A (p.Val247=)
c.993T>A (p.Val331=)
c.885T>A (p.Val295=)
c.820-6363T>A (n.820-6363T>A)
c.969T>A (p.Val323=)
c.654T>A (p.Val218=)
6g.73621811A>CCA364713178SLC17A5c.971T>G (p.Val324Gly)
c.920T>G (p.Val307Gly)
c.773T>G (p.Val258Gly)
c.740T>G (p.Val247Gly)
c.992T>G (p.Val331Gly)
c.884T>G (p.Val295Gly)
c.820-6364T>G (n.820-6364T>G)
c.968T>G (p.Val323Gly)
c.653T>G (p.Val218Gly)
6g.73621811A>GCA364713180SLC17A5c.971T>C (p.Val324Ala)
c.920T>C (p.Val307Ala)
c.773T>C (p.Val258Ala)
c.740T>C (p.Val247Ala)
c.992T>C (p.Val331Ala)
c.884T>C (p.Val295Ala)
c.820-6364T>C (n.820-6364T>C)
c.968T>C (p.Val323Ala)
c.653T>C (p.Val218Ala)
6g.73621811A>TCA364713179SLC17A5c.971T>A (p.Val324Asp)
c.920T>A (p.Val307Asp)
c.773T>A (p.Val258Asp)
c.740T>A (p.Val247Asp)
c.992T>A (p.Val331Asp)
c.884T>A (p.Val295Asp)
c.820-6364T>A (n.820-6364T>A)
c.968T>A (p.Val323Asp)
c.653T>A (p.Val218Asp)
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=)

Number of alleles fetched