Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.25812834T>ACA363157740SLC17A1c.894A>T (p.Lys298Asn)
c.*145A>T (n.*145A>T)
c.735+261A>T (n.735+261A>T)
c.807A>T (p.Lys269Asn)
c.681A>T (p.Lys227Asn)
c.1044A>T (p.Lys348Asn)
c.957A>T (p.Lys319Asn)
c.885+261A>T (n.885+261A>T)
c.960A>T (p.Lys320Asn)
6g.25812834T>CCA448980320SLC17A1c.894A>G (p.Lys298=)
c.*145A>G (n.*145A>G)
c.735+261A>G (n.735+261A>G)
c.807A>G (p.Lys269=)
c.681A>G (p.Lys227=)
c.1044A>G (p.Lys348=)
c.957A>G (p.Lys319=)
c.885+261A>G (n.885+261A>G)
c.960A>G (p.Lys320=)
6g.25812834T>GCA3662578SLC17A1c.894A>C (p.Lys298Asn)
c.*145A>C (n.*145A>C)
c.735+261A>C (n.735+261A>C)
c.807A>C (p.Lys269Asn)
c.681A>C (p.Lys227Asn)
c.1044A>C (p.Lys348Asn)
c.957A>C (p.Lys319Asn)
c.885+261A>C (n.885+261A>C)
c.960A>C (p.Lys320Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812834T=CA1616765597SLC17A1c.894A= (p.Lys298=)
c.*145A= (n.*145A=)
c.735+261A= (n.735+261A=)
c.807A= (p.Lys269=)
c.681A= (p.Lys227=)
c.1044A= (p.Lys348=)
c.957A= (p.Lys319=)
c.885+261A= (n.885+261A=)
c.960A= (p.Lys320=)
6g.25812835T>ACA363157744SLC17A1c.893A>T (p.Lys298Ile)
c.*144A>T (n.*144A>T)
c.735+260A>T (n.735+260A>T)
c.806A>T (p.Lys269Ile)
c.680A>T (p.Lys227Ile)
c.1043A>T (p.Lys348Ile)
c.956A>T (p.Lys319Ile)
c.885+260A>T (n.885+260A>T)
c.959A>T (p.Lys320Ile)
6g.25812835T>CCA363157746SLC17A1c.893A>G (p.Lys298Arg)
c.*144A>G (n.*144A>G)
c.735+260A>G (n.735+260A>G)
c.806A>G (p.Lys269Arg)
c.680A>G (p.Lys227Arg)
c.1043A>G (p.Lys348Arg)
c.956A>G (p.Lys319Arg)
c.885+260A>G (n.885+260A>G)
c.959A>G (p.Lys320Arg)
6g.25812835T>GCA363157748SLC17A1c.893A>C (p.Lys298Thr)
c.*144A>C (n.*144A>C)
c.735+260A>C (n.735+260A>C)
c.806A>C (p.Lys269Thr)
c.680A>C (p.Lys227Thr)
c.1043A>C (p.Lys348Thr)
c.956A>C (p.Lys319Thr)
c.885+260A>C (n.885+260A>C)
c.959A>C (p.Lys320Thr)
dbSNP gnomAD v3 gnomAD v4
6g.25812835T=CA1616765598SLC17A1c.893A= (p.Lys298=)
c.*144A= (n.*144A=)
c.735+260A= (n.735+260A=)
c.806A= (p.Lys269=)
c.680A= (p.Lys227=)
c.1043A= (p.Lys348=)
c.956A= (p.Lys319=)
c.885+260A= (n.885+260A=)
c.959A= (p.Lys320=)
6g.25812836T>ACA363157750SLC17A1c.892A>T (p.Lys298Ter)
c.*143A>T (n.*143A>T)
c.735+259A>T (n.735+259A>T)
c.805A>T (p.Lys269Ter)
c.679A>T (p.Lys227Ter)
c.1042A>T (p.Lys348Ter)
c.955A>T (p.Lys319Ter)
c.885+259A>T (n.885+259A>T)
c.958A>T (p.Lys320Ter)
6g.25812836T>CCA363157752SLC17A1c.892A>G (p.Lys298Glu)
c.*143A>G (n.*143A>G)
c.735+259A>G (n.735+259A>G)
c.805A>G (p.Lys269Glu)
c.679A>G (p.Lys227Glu)
c.1042A>G (p.Lys348Glu)
c.955A>G (p.Lys319Glu)
c.885+259A>G (n.885+259A>G)
c.958A>G (p.Lys320Glu)
gnomAD v4
6g.25812836T>GCA363157754SLC17A1c.892A>C (p.Lys298Gln)
c.*143A>C (n.*143A>C)
c.735+259A>C (n.735+259A>C)
c.805A>C (p.Lys269Gln)
c.679A>C (p.Lys227Gln)
c.1042A>C (p.Lys348Gln)
c.955A>C (p.Lys319Gln)
c.885+259A>C (n.885+259A>C)
c.958A>C (p.Lys320Gln)
6g.25812837T>ACA448980321SLC17A1c.891A>T (p.Ile297=)
c.*142A>T (n.*142A>T)
c.735+258A>T (n.735+258A>T)
c.804A>T (p.Ile268=)
c.678A>T (p.Ile226=)
c.1041A>T (p.Ile347=)
c.954A>T (p.Ile318=)
c.885+258A>T (n.885+258A>T)
c.957A>T (p.Ile319=)
6g.25812837T>CCA363157756SLC17A1c.891A>G (p.Ile297Met)
c.*142A>G (n.*142A>G)
c.735+258A>G (n.735+258A>G)
c.804A>G (p.Ile268Met)
c.678A>G (p.Ile226Met)
c.1041A>G (p.Ile347Met)
c.954A>G (p.Ile318Met)
c.885+258A>G (n.885+258A>G)
c.957A>G (p.Ile319Met)
COSMIC
6g.25812837T>GCA448980322SLC17A1c.891A>C (p.Ile297=)
c.*142A>C (n.*142A>C)
c.735+258A>C (n.735+258A>C)
c.804A>C (p.Ile268=)
c.678A>C (p.Ile226=)
c.1041A>C (p.Ile347=)
c.954A>C (p.Ile318=)
c.885+258A>C (n.885+258A>C)
c.957A>C (p.Ile319=)
6g.25812838A>CCA363157757SLC17A1c.890T>G (p.Ile297Arg)
c.*141T>G (n.*141T>G)
c.735+257T>G (n.735+257T>G)
c.803T>G (p.Ile268Arg)
c.677T>G (p.Ile226Arg)
c.1040T>G (p.Ile347Arg)
c.953T>G (p.Ile318Arg)
c.885+257T>G (n.885+257T>G)
c.956T>G (p.Ile319Arg)
6g.25812838A>GCA363157758SLC17A1c.890T>C (p.Ile297Thr)
c.*141T>C (n.*141T>C)
c.735+257T>C (n.735+257T>C)
c.803T>C (p.Ile268Thr)
c.677T>C (p.Ile226Thr)
c.1040T>C (p.Ile347Thr)
c.953T>C (p.Ile318Thr)
c.885+257T>C (n.885+257T>C)
c.956T>C (p.Ile319Thr)
6g.25812838A>TCA363157759SLC17A1c.890T>A (p.Ile297Lys)
c.*141T>A (n.*141T>A)
c.735+257T>A (n.735+257T>A)
c.803T>A (p.Ile268Lys)
c.677T>A (p.Ile226Lys)
c.1040T>A (p.Ile347Lys)
c.953T>A (p.Ile318Lys)
c.885+257T>A (n.885+257T>A)
c.956T>A (p.Ile319Lys)
6g.25812839T>ACA363157761SLC17A1c.889A>T (p.Ile297Leu)
c.*140A>T (n.*140A>T)
c.735+256A>T (n.735+256A>T)
c.802A>T (p.Ile268Leu)
c.676A>T (p.Ile226Leu)
c.1039A>T (p.Ile347Leu)
c.952A>T (p.Ile318Leu)
c.885+256A>T (n.885+256A>T)
c.955A>T (p.Ile319Leu)
6g.25812839T>CCA363157764SLC17A1c.889A>G (p.Ile297Val)
c.*140A>G (n.*140A>G)
c.735+256A>G (n.735+256A>G)
c.802A>G (p.Ile268Val)
c.676A>G (p.Ile226Val)
c.1039A>G (p.Ile347Val)
c.952A>G (p.Ile318Val)
c.885+256A>G (n.885+256A>G)
c.955A>G (p.Ile319Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.25812839T>GCA363157763SLC17A1c.889A>C (p.Ile297Leu)
c.*140A>C (n.*140A>C)
c.735+256A>C (n.735+256A>C)
c.802A>C (p.Ile268Leu)
c.676A>C (p.Ile226Leu)
c.1039A>C (p.Ile347Leu)
c.952A>C (p.Ile318Leu)
c.885+256A>C (n.885+256A>C)
c.955A>C (p.Ile319Leu)
6g.25812839T=CA1616765599SLC17A1c.889A= (p.Ile297=)
c.*140A= (n.*140A=)
c.735+256A= (n.735+256A=)
c.802A= (p.Ile268=)
c.676A= (p.Ile226=)
c.1039A= (p.Ile347=)
c.952A= (p.Ile318=)
c.885+256A= (n.885+256A=)
c.955A= (p.Ile319=)
6g.25812840A=CA1616765600SLC17A1c.888T= (p.Asn296=)
c.*139T= (n.*139T=)
c.735+255T= (n.735+255T=)
c.801T= (p.Asn267=)
c.675T= (p.Asn225=)
c.1038T= (p.Asn346=)
c.951T= (p.Asn317=)
c.885+255T= (n.885+255T=)
c.954T= (p.Asn318=)
6g.25812840A>CCA363157766SLC17A1c.888T>G (p.Asn296Lys)
c.*139T>G (n.*139T>G)
c.735+255T>G (n.735+255T>G)
c.801T>G (p.Asn267Lys)
c.675T>G (p.Asn225Lys)
c.1038T>G (p.Asn346Lys)
c.951T>G (p.Asn317Lys)
c.885+255T>G (n.885+255T>G)
c.954T>G (p.Asn318Lys)
6g.25812840A>GCA448980323SLC17A1c.888T>C (p.Asn296=)
c.*139T>C (n.*139T>C)
c.735+255T>C (n.735+255T>C)
c.801T>C (p.Asn267=)
c.675T>C (p.Asn225=)
c.1038T>C (p.Asn346=)
c.951T>C (p.Asn317=)
c.885+255T>C (n.885+255T>C)
c.954T>C (p.Asn318=)
dbSNP gnomAD v2 gnomAD v4
6g.25812840A>TCA363157767SLC17A1c.888T>A (p.Asn296Lys)
c.*139T>A (n.*139T>A)
c.735+255T>A (n.735+255T>A)
c.801T>A (p.Asn267Lys)
c.675T>A (p.Asn225Lys)
c.1038T>A (p.Asn346Lys)
c.951T>A (p.Asn317Lys)
c.885+255T>A (n.885+255T>A)
c.954T>A (p.Asn318Lys)
6g.25812841T>ACA363157769SLC17A1c.887A>T (p.Asn296Ile)
c.*138A>T (n.*138A>T)
c.735+254A>T (n.735+254A>T)
c.800A>T (p.Asn267Ile)
c.674A>T (p.Asn225Ile)
c.1037A>T (p.Asn346Ile)
c.950A>T (p.Asn317Ile)
c.885+254A>T (n.885+254A>T)
c.953A>T (p.Asn318Ile)
6g.25812841T>CCA363157771SLC17A1c.887A>G (p.Asn296Ser)
c.*138A>G (n.*138A>G)
c.735+254A>G (n.735+254A>G)
c.800A>G (p.Asn267Ser)
c.674A>G (p.Asn225Ser)
c.1037A>G (p.Asn346Ser)
c.950A>G (p.Asn317Ser)
c.885+254A>G (n.885+254A>G)
c.953A>G (p.Asn318Ser)
6g.25812841T>GCA363157772SLC17A1c.887A>C (p.Asn296Thr)
c.*138A>C (n.*138A>C)
c.735+254A>C (n.735+254A>C)
c.800A>C (p.Asn267Thr)
c.674A>C (p.Asn225Thr)
c.1037A>C (p.Asn346Thr)
c.950A>C (p.Asn317Thr)
c.885+254A>C (n.885+254A>C)
c.953A>C (p.Asn318Thr)
6g.25812842dupCA2677592039SLC17A1c.887dup (p.Asn296LysfsTer21)
c.*138dup (n.*138dup)
c.735+254dup (n.735+254dup)
c.800dup (p.Asn267LysfsTer21)
c.674dup (p.Asn225LysfsTer21)
c.1037dup (p.Asn346LysfsTer21)
c.950dup (p.Asn317LysfsTer21)
c.885+254dup (n.885+254dup)
c.953dup (p.Asn318LysfsTer21)
gnomAD v4
6g.25812842T>ACA363157774SLC17A1c.886A>T (p.Asn296Tyr)
c.*137A>T (n.*137A>T)
c.735+253A>T (n.735+253A>T)
c.799A>T (p.Asn267Tyr)
c.673A>T (p.Asn225Tyr)
c.1036A>T (p.Asn346Tyr)
c.949A>T (p.Asn317Tyr)
c.885+253A>T (n.885+253A>T)
c.952A>T (p.Asn318Tyr)
6g.25812842T>CCA363157775SLC17A1c.886A>G (p.Asn296Asp)
c.*137A>G (n.*137A>G)
c.735+253A>G (n.735+253A>G)
c.799A>G (p.Asn267Asp)
c.673A>G (p.Asn225Asp)
c.1036A>G (p.Asn346Asp)
c.949A>G (p.Asn317Asp)
c.885+253A>G (n.885+253A>G)
c.952A>G (p.Asn318Asp)
6g.25812842T>GCA363157777SLC17A1c.886A>C (p.Asn296His)
c.*137A>C (n.*137A>C)
c.735+253A>C (n.735+253A>C)
c.799A>C (p.Asn267His)
c.673A>C (p.Asn225His)
c.1036A>C (p.Asn346His)
c.949A>C (p.Asn317His)
c.885+253A>C (n.885+253A>C)
c.952A>C (p.Asn318His)
6g.25812843A>CCA448980324SLC17A1c.885T>G (p.Val295=)
c.*136T>G (n.*136T>G)
c.735+252T>G (n.735+252T>G)
c.798T>G (p.Val266=)
c.672T>G (p.Val224=)
c.1035T>G (p.Val345=)
c.948T>G (p.Val316=)
c.885+252T>G (n.885+252T>G)
c.951T>G (p.Val317=)
6g.25812843A>GCA448980325SLC17A1c.885T>C (p.Val295=)
c.*136T>C (n.*136T>C)
c.735+252T>C (n.735+252T>C)
c.798T>C (p.Val266=)
c.672T>C (p.Val224=)
c.1035T>C (p.Val345=)
c.948T>C (p.Val316=)
c.885+252T>C (n.885+252T>C)
c.951T>C (p.Val317=)
6g.25812843A>TCA448980326SLC17A1c.885T>A (p.Val295=)
c.*136T>A (n.*136T>A)
c.735+252T>A (n.735+252T>A)
c.798T>A (p.Val266=)
c.672T>A (p.Val224=)
c.1035T>A (p.Val345=)
c.948T>A (p.Val316=)
c.885+252T>A (n.885+252T>A)
c.951T>A (p.Val317=)
6g.25812844A>CCA363157779SLC17A1c.884T>G (p.Val295Gly)
c.*135T>G (n.*135T>G)
c.735+251T>G (n.735+251T>G)
c.797T>G (p.Val266Gly)
c.671T>G (p.Val224Gly)
c.1034T>G (p.Val345Gly)
c.947T>G (p.Val316Gly)
c.885+251T>G (n.885+251T>G)
c.950T>G (p.Val317Gly)
6g.25812844A>GCA363157780SLC17A1c.884T>C (p.Val295Ala)
c.*135T>C (n.*135T>C)
c.735+251T>C (n.735+251T>C)
c.797T>C (p.Val266Ala)
c.671T>C (p.Val224Ala)
c.1034T>C (p.Val345Ala)
c.947T>C (p.Val316Ala)
c.885+251T>C (n.885+251T>C)
c.950T>C (p.Val317Ala)
6g.25812844A>TCA363157782SLC17A1c.884T>A (p.Val295Asp)
c.*135T>A (n.*135T>A)
c.735+251T>A (n.735+251T>A)
c.797T>A (p.Val266Asp)
c.671T>A (p.Val224Asp)
c.1034T>A (p.Val345Asp)
c.947T>A (p.Val316Asp)
c.885+251T>A (n.885+251T>A)
c.950T>A (p.Val317Asp)
6g.25812845C>ACA363157783SLC17A1c.883G>T (p.Val295Phe)
c.*134G>T (n.*134G>T)
c.735+250G>T (n.735+250G>T)
c.796G>T (p.Val266Phe)
c.670G>T (p.Val224Phe)
c.1033G>T (p.Val345Phe)
c.946G>T (p.Val316Phe)
c.885+250G>T (n.885+250G>T)
c.949G>T (p.Val317Phe)
6g.25812845C>GCA363157785SLC17A1c.883G>C (p.Val295Leu)
c.*134G>C (n.*134G>C)
c.735+250G>C (n.735+250G>C)
c.796G>C (p.Val266Leu)
c.670G>C (p.Val224Leu)
c.1033G>C (p.Val345Leu)
c.946G>C (p.Val316Leu)
c.885+250G>C (n.885+250G>C)
c.949G>C (p.Val317Leu)
6g.25812845C>TCA363157787SLC17A1c.883G>A (p.Val295Ile)
c.*134G>A (n.*134G>A)
c.735+250G>A (n.735+250G>A)
c.796G>A (p.Val266Ile)
c.670G>A (p.Val224Ile)
c.1033G>A (p.Val345Ile)
c.946G>A (p.Val316Ile)
c.885+250G>A (n.885+250G>A)
c.949G>A (p.Val317Ile)
gnomAD v4
6g.25812846A>CCA363157790SLC17A1c.882T>G (p.His294Gln)
c.*133T>G (n.*133T>G)
c.735+249T>G (n.735+249T>G)
c.795T>G (p.His265Gln)
c.669T>G (p.His223Gln)
c.1032T>G (p.His344Gln)
c.945T>G (p.His315Gln)
c.885+249T>G (n.885+249T>G)
c.948T>G (p.His316Gln)
6g.25812846A>GCA448980327SLC17A1c.882T>C (p.His294=)
c.*133T>C (n.*133T>C)
c.735+249T>C (n.735+249T>C)
c.795T>C (p.His265=)
c.669T>C (p.His223=)
c.1032T>C (p.His344=)
c.945T>C (p.His315=)
c.885+249T>C (n.885+249T>C)
c.948T>C (p.His316=)
6g.25812846A>TCA363157788SLC17A1c.882T>A (p.His294Gln)
c.*133T>A (n.*133T>A)
c.735+249T>A (n.735+249T>A)
c.795T>A (p.His265Gln)
c.669T>A (p.His223Gln)
c.1032T>A (p.His344Gln)
c.945T>A (p.His315Gln)
c.885+249T>A (n.885+249T>A)
c.948T>A (p.His316Gln)
6g.25812847T>ACA3662579SLC17A1c.881A>T (p.His294Leu)
c.*132A>T (n.*132A>T)
c.735+248A>T (n.735+248A>T)
c.794A>T (p.His265Leu)
c.668A>T (p.His223Leu)
c.1031A>T (p.His344Leu)
c.944A>T (p.His315Leu)
c.885+248A>T (n.885+248A>T)
c.947A>T (p.His316Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812847T>CCA363157792SLC17A1c.881A>G (p.His294Arg)
c.*132A>G (n.*132A>G)
c.735+248A>G (n.735+248A>G)
c.794A>G (p.His265Arg)
c.668A>G (p.His223Arg)
c.1031A>G (p.His344Arg)
c.944A>G (p.His315Arg)
c.885+248A>G (n.885+248A>G)
c.947A>G (p.His316Arg)
6g.25812847T>GCA363157794SLC17A1c.881A>C (p.His294Pro)
c.*132A>C (n.*132A>C)
c.735+248A>C (n.735+248A>C)
c.794A>C (p.His265Pro)
c.668A>C (p.His223Pro)
c.1031A>C (p.His344Pro)
c.944A>C (p.His315Pro)
c.885+248A>C (n.885+248A>C)
c.947A>C (p.His316Pro)
6g.25812847T=CA1616765601SLC17A1c.881A= (p.His294=)
c.*132A= (n.*132A=)
c.735+248A= (n.735+248A=)
c.794A= (p.His265=)
c.668A= (p.His223=)
c.1031A= (p.His344=)
c.944A= (p.His315=)
c.885+248A= (n.885+248A=)
c.947A= (p.His316=)
6g.25812848G>ACA363157795SLC17A1c.880C>T (p.His294Tyr)
c.*131C>T (n.*131C>T)
c.735+247C>T (n.735+247C>T)
c.793C>T (p.His265Tyr)
c.667C>T (p.His223Tyr)
c.1030C>T (p.His344Tyr)
c.943C>T (p.His315Tyr)
c.885+247C>T (n.885+247C>T)
c.946C>T (p.His316Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.25812848G>CCA363157796SLC17A1c.880C>G (p.His294Asp)
c.*131C>G (n.*131C>G)
c.735+247C>G (n.735+247C>G)
c.793C>G (p.His265Asp)
c.667C>G (p.His223Asp)
c.1030C>G (p.His344Asp)
c.943C>G (p.His315Asp)
c.885+247C>G (n.885+247C>G)
c.946C>G (p.His316Asp)
6g.25812848G=CA1616765602SLC17A1c.880C= (p.His294=)
c.*131C= (n.*131C=)
c.735+247C= (n.735+247C=)
c.793C= (p.His265=)
c.667C= (p.His223=)
c.1030C= (p.His344=)
c.943C= (p.His315=)
c.885+247C= (n.885+247C=)
c.946C= (p.His316=)
6g.25812848G>TCA363157797SLC17A1c.880C>A (p.His294Asn)
c.*131C>A (n.*131C>A)
c.735+247C>A (n.735+247C>A)
c.793C>A (p.His265Asn)
c.667C>A (p.His223Asn)
c.1030C>A (p.His344Asn)
c.943C>A (p.His315Asn)
c.885+247C>A (n.885+247C>A)
c.946C>A (p.His316Asn)
6g.25812849A>CCA448980330SLC17A1c.879T>G (p.Leu293=)
c.*130T>G (n.*130T>G)
c.735+246T>G (n.735+246T>G)
c.792T>G (p.Leu264=)
c.666T>G (p.Leu222=)
c.1029T>G (p.Leu343=)
c.942T>G (p.Leu314=)
c.885+246T>G (n.885+246T>G)
c.945T>G (p.Leu315=)
6g.25812849A>GCA448980329SLC17A1c.879T>C (p.Leu293=)
c.*130T>C (n.*130T>C)
c.735+246T>C (n.735+246T>C)
c.792T>C (p.Leu264=)
c.666T>C (p.Leu222=)
c.1029T>C (p.Leu343=)
c.942T>C (p.Leu314=)
c.885+246T>C (n.885+246T>C)
c.945T>C (p.Leu315=)
6g.25812849A>TCA448980328SLC17A1c.879T>A (p.Leu293=)
c.*130T>A (n.*130T>A)
c.735+246T>A (n.735+246T>A)
c.792T>A (p.Leu264=)
c.666T>A (p.Leu222=)
c.1029T>A (p.Leu343=)
c.942T>A (p.Leu314=)
c.885+246T>A (n.885+246T>A)
c.945T>A (p.Leu315=)
6g.25812850A>CCA363157799SLC17A1c.878T>G (p.Leu293Arg)
c.*129T>G (n.*129T>G)
c.735+245T>G (n.735+245T>G)
c.791T>G (p.Leu264Arg)
c.665T>G (p.Leu222Arg)
c.1028T>G (p.Leu343Arg)
c.941T>G (p.Leu314Arg)
c.885+245T>G (n.885+245T>G)
c.944T>G (p.Leu315Arg)
6g.25812850A>GCA363157800SLC17A1c.878T>C (p.Leu293Pro)
c.*129T>C (n.*129T>C)
c.735+245T>C (n.735+245T>C)
c.791T>C (p.Leu264Pro)
c.665T>C (p.Leu222Pro)
c.1028T>C (p.Leu343Pro)
c.941T>C (p.Leu314Pro)
c.885+245T>C (n.885+245T>C)
c.944T>C (p.Leu315Pro)
6g.25812850A>TCA363157802SLC17A1c.878T>A (p.Leu293His)
c.*129T>A (n.*129T>A)
c.735+245T>A (n.735+245T>A)
c.791T>A (p.Leu264His)
c.665T>A (p.Leu222His)
c.1028T>A (p.Leu343His)
c.941T>A (p.Leu314His)
c.885+245T>A (n.885+245T>A)
c.944T>A (p.Leu315His)
6g.25812852_25812858delCA2677592040SLC17A1c.872_878del (p.Ser291PhefsTer5)
c.*123_*129del (n.*123_*129del)
c.735+239_735+245del (n.735+239_735+245del)
c.785_791del (p.Ser262PhefsTer5)
c.659_665del (p.Ser220PhefsTer5)
c.1022_1028del (p.Ser341PhefsTer5)
c.935_941del (p.Ser312PhefsTer5)
c.885+239_885+245del (n.885+239_885+245del)
c.938_944del (p.Ser313PhefsTer5)
gnomAD v4
6g.25812851G>ACA363157803SLC17A1c.877C>T (p.Leu293Phe)
c.*128C>T (n.*128C>T)
c.735+244C>T (n.735+244C>T)
c.790C>T (p.Leu264Phe)
c.664C>T (p.Leu222Phe)
c.1027C>T (p.Leu343Phe)
c.940C>T (p.Leu314Phe)
c.885+244C>T (n.885+244C>T)
c.943C>T (p.Leu315Phe)
6g.25812851G>CCA363157804SLC17A1c.877C>G (p.Leu293Val)
c.*128C>G (n.*128C>G)
c.735+244C>G (n.735+244C>G)
c.790C>G (p.Leu264Val)
c.664C>G (p.Leu222Val)
c.1027C>G (p.Leu343Val)
c.940C>G (p.Leu314Val)
c.885+244C>G (n.885+244C>G)
c.943C>G (p.Leu315Val)
6g.25812851G>TCA363157805SLC17A1c.877C>A (p.Leu293Ile)
c.*128C>A (n.*128C>A)
c.735+244C>A (n.735+244C>A)
c.790C>A (p.Leu264Ile)
c.664C>A (p.Leu222Ile)
c.1027C>A (p.Leu343Ile)
c.940C>A (p.Leu314Ile)
c.885+244C>A (n.885+244C>A)
c.943C>A (p.Leu315Ile)
6g.25812852C>ACA363157811SLC17A1c.876G>T (p.Met292Ile)
c.*127G>T (n.*127G>T)
c.735+243G>T (n.735+243G>T)
c.789G>T (p.Met263Ile)
c.663G>T (p.Met221Ile)
c.1026G>T (p.Met342Ile)
c.939G>T (p.Met313Ile)
c.885+243G>T (n.885+243G>T)
c.942G>T (p.Met314Ile)
6g.25812852C>GCA363157809SLC17A1c.876G>C (p.Met292Ile)
c.*127G>C (n.*127G>C)
c.735+243G>C (n.735+243G>C)
c.789G>C (p.Met263Ile)
c.663G>C (p.Met221Ile)
c.1026G>C (p.Met342Ile)
c.939G>C (p.Met313Ile)
c.885+243G>C (n.885+243G>C)
c.942G>C (p.Met314Ile)
6g.25812852C>TCA363157807SLC17A1c.876G>A (p.Met292Ile)
c.*127G>A (n.*127G>A)
c.735+243G>A (n.735+243G>A)
c.789G>A (p.Met263Ile)
c.663G>A (p.Met221Ile)
c.1026G>A (p.Met342Ile)
c.939G>A (p.Met313Ile)
c.885+243G>A (n.885+243G>A)
c.942G>A (p.Met314Ile)
6g.25812853A=CA1616765603SLC17A1c.875T= (p.Met292=)
c.*126T= (n.*126T=)
c.735+242T= (n.735+242T=)
c.788T= (p.Met263=)
c.662T= (p.Met221=)
c.1025T= (p.Met342=)
c.938T= (p.Met313=)
c.885+242T= (n.885+242T=)
c.941T= (p.Met314=)
6g.25812853A>CCA363157812SLC17A1c.875T>G (p.Met292Arg)
c.*126T>G (n.*126T>G)
c.735+242T>G (n.735+242T>G)
c.788T>G (p.Met263Arg)
c.662T>G (p.Met221Arg)
c.1025T>G (p.Met342Arg)
c.938T>G (p.Met313Arg)
c.885+242T>G (n.885+242T>G)
c.941T>G (p.Met314Arg)
6g.25812853A>GCA363157813SLC17A1c.875T>C (p.Met292Thr)
c.*126T>C (n.*126T>C)
c.735+242T>C (n.735+242T>C)
c.788T>C (p.Met263Thr)
c.662T>C (p.Met221Thr)
c.1025T>C (p.Met342Thr)
c.938T>C (p.Met313Thr)
c.885+242T>C (n.885+242T>C)
c.941T>C (p.Met314Thr)
dbSNP
6g.25812853A>TCA363157815SLC17A1c.875T>A (p.Met292Lys)
c.*126T>A (n.*126T>A)
c.735+242T>A (n.735+242T>A)
c.788T>A (p.Met263Lys)
c.662T>A (p.Met221Lys)
c.1025T>A (p.Met342Lys)
c.938T>A (p.Met313Lys)
c.885+242T>A (n.885+242T>A)
c.941T>A (p.Met314Lys)
6g.25812854T>ACA363157817SLC17A1c.874A>T (p.Met292Leu)
c.*125A>T (n.*125A>T)
c.735+241A>T (n.735+241A>T)
c.787A>T (p.Met263Leu)
c.661A>T (p.Met221Leu)
c.1024A>T (p.Met342Leu)
c.937A>T (p.Met313Leu)
c.885+241A>T (n.885+241A>T)
c.940A>T (p.Met314Leu)
6g.25812854T>CCA363157818SLC17A1c.874A>G (p.Met292Val)
c.*125A>G (n.*125A>G)
c.735+241A>G (n.735+241A>G)
c.787A>G (p.Met263Val)
c.661A>G (p.Met221Val)
c.1024A>G (p.Met342Val)
c.937A>G (p.Met313Val)
c.885+241A>G (n.885+241A>G)
c.940A>G (p.Met314Val)
6g.25812854T>GCA363157819SLC17A1c.874A>C (p.Met292Leu)
c.*125A>C (n.*125A>C)
c.735+241A>C (n.735+241A>C)
c.787A>C (p.Met263Leu)
c.661A>C (p.Met221Leu)
c.1024A>C (p.Met342Leu)
c.937A>C (p.Met313Leu)
c.885+241A>C (n.885+241A>C)
c.940A>C (p.Met314Leu)
6g.25812855G>ACA3662580SLC17A1c.873C>T (p.Ser291=)
c.*124C>T (n.*124C>T)
c.735+240C>T (n.735+240C>T)
c.786C>T (p.Ser262=)
c.660C>T (p.Ser220=)
c.1023C>T (p.Ser341=)
c.936C>T (p.Ser312=)
c.885+240C>T (n.885+240C>T)
c.939C>T (p.Ser313=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.25812855G>CCA448980332SLC17A1c.873C>G (p.Ser291=)
c.*124C>G (n.*124C>G)
c.735+240C>G (n.735+240C>G)
c.786C>G (p.Ser262=)
c.660C>G (p.Ser220=)
c.1023C>G (p.Ser341=)
c.936C>G (p.Ser312=)
c.885+240C>G (n.885+240C>G)
c.939C>G (p.Ser313=)
6g.25812855G=CA1616765604SLC17A1c.873C= (p.Ser291=)
c.*124C= (n.*124C=)
c.735+240C= (n.735+240C=)
c.786C= (p.Ser262=)
c.660C= (p.Ser220=)
c.1023C= (p.Ser341=)
c.936C= (p.Ser312=)
c.885+240C= (n.885+240C=)
c.939C= (p.Ser313=)
6g.25812855G>TCA448980331SLC17A1c.873C>A (p.Ser291=)
c.*124C>A (n.*124C>A)
c.735+240C>A (n.735+240C>A)
c.786C>A (p.Ser262=)
c.660C>A (p.Ser220=)
c.1023C>A (p.Ser341=)
c.936C>A (p.Ser312=)
c.885+240C>A (n.885+240C>A)
c.939C>A (p.Ser313=)
6g.25812856G>ACA363157820SLC17A1c.872C>T (p.Ser291Phe)
c.*123C>T (n.*123C>T)
c.735+239C>T (n.735+239C>T)
c.785C>T (p.Ser262Phe)
c.659C>T (p.Ser220Phe)
c.1022C>T (p.Ser341Phe)
c.935C>T (p.Ser312Phe)
c.885+239C>T (n.885+239C>T)
c.938C>T (p.Ser313Phe)
6g.25812856G>CCA363157821SLC17A1c.872C>G (p.Ser291Cys)
c.*123C>G (n.*123C>G)
c.735+239C>G (n.735+239C>G)
c.785C>G (p.Ser262Cys)
c.659C>G (p.Ser220Cys)
c.1022C>G (p.Ser341Cys)
c.935C>G (p.Ser312Cys)
c.885+239C>G (n.885+239C>G)
c.938C>G (p.Ser313Cys)
gnomAD v4
6g.25812856G>TCA363157822SLC17A1c.872C>A (p.Ser291Tyr)
c.*123C>A (n.*123C>A)
c.735+239C>A (n.735+239C>A)
c.785C>A (p.Ser262Tyr)
c.659C>A (p.Ser220Tyr)
c.1022C>A (p.Ser341Tyr)
c.935C>A (p.Ser312Tyr)
c.885+239C>A (n.885+239C>A)
c.938C>A (p.Ser313Tyr)
gnomAD v4
6g.25812857A>CCA363157823SLC17A1c.871T>G (p.Ser291Ala)
c.*122T>G (n.*122T>G)
c.735+238T>G (n.735+238T>G)
c.784T>G (p.Ser262Ala)
c.658T>G (p.Ser220Ala)
c.1021T>G (p.Ser341Ala)
c.934T>G (p.Ser312Ala)
c.885+238T>G (n.885+238T>G)
c.937T>G (p.Ser313Ala)
6g.25812857A>GCA363157824SLC17A1c.871T>C (p.Ser291Pro)
c.*122T>C (n.*122T>C)
c.735+238T>C (n.735+238T>C)
c.784T>C (p.Ser262Pro)
c.658T>C (p.Ser220Pro)
c.1021T>C (p.Ser341Pro)
c.934T>C (p.Ser312Pro)
c.885+238T>C (n.885+238T>C)
c.937T>C (p.Ser313Pro)
6g.25812857A>TCA363157825SLC17A1c.871T>A (p.Ser291Thr)
c.*122T>A (n.*122T>A)
c.735+238T>A (n.735+238T>A)
c.784T>A (p.Ser262Thr)
c.658T>A (p.Ser220Thr)
c.1021T>A (p.Ser341Thr)
c.934T>A (p.Ser312Thr)
c.885+238T>A (n.885+238T>A)
c.937T>A (p.Ser313Thr)
6g.25812858G>ACA448980333SLC17A1c.870C>T (p.Asn290=)
c.*121C>T (n.*121C>T)
c.735+237C>T (n.735+237C>T)
c.783C>T (p.Asn261=)
c.657C>T (p.Asn219=)
c.1020C>T (p.Asn340=)
c.933C>T (p.Asn311=)
c.885+237C>T (n.885+237C>T)
c.936C>T (p.Asn312=)
6g.25812858G>CCA363157827SLC17A1c.870C>G (p.Asn290Lys)
c.*121C>G (n.*121C>G)
c.735+237C>G (n.735+237C>G)
c.783C>G (p.Asn261Lys)
c.657C>G (p.Asn219Lys)
c.1020C>G (p.Asn340Lys)
c.933C>G (p.Asn311Lys)
c.885+237C>G (n.885+237C>G)
c.936C>G (p.Asn312Lys)
6g.25812858G>TCA363157826SLC17A1c.870C>A (p.Asn290Lys)
c.*121C>A (n.*121C>A)
c.735+237C>A (n.735+237C>A)
c.783C>A (p.Asn261Lys)
c.657C>A (p.Asn219Lys)
c.1020C>A (p.Asn340Lys)
c.933C>A (p.Asn311Lys)
c.885+237C>A (n.885+237C>A)
c.936C>A (p.Asn312Lys)
6g.25812859T>ACA363157828SLC17A1c.869A>T (p.Asn290Ile)
c.*120A>T (n.*120A>T)
c.735+236A>T (n.735+236A>T)
c.782A>T (p.Asn261Ile)
c.656A>T (p.Asn219Ile)
c.1019A>T (p.Asn340Ile)
c.932A>T (p.Asn311Ile)
c.885+236A>T (n.885+236A>T)
c.935A>T (p.Asn312Ile)
6g.25812859T>CCA363157829SLC17A1c.869A>G (p.Asn290Ser)
c.*120A>G (n.*120A>G)
c.735+236A>G (n.735+236A>G)
c.782A>G (p.Asn261Ser)
c.656A>G (p.Asn219Ser)
c.1019A>G (p.Asn340Ser)
c.932A>G (p.Asn311Ser)
c.885+236A>G (n.885+236A>G)
c.935A>G (p.Asn312Ser)
gnomAD v4
6g.25812859T>GCA363157830SLC17A1c.869A>C (p.Asn290Thr)
c.*120A>C (n.*120A>C)
c.735+236A>C (n.735+236A>C)
c.782A>C (p.Asn261Thr)
c.656A>C (p.Asn219Thr)
c.1019A>C (p.Asn340Thr)
c.932A>C (p.Asn311Thr)
c.885+236A>C (n.885+236A>C)
c.935A>C (p.Asn312Thr)
6g.25812860T>ACA363157832SLC17A1c.868A>T (p.Asn290Tyr)
c.*119A>T (n.*119A>T)
c.735+235A>T (n.735+235A>T)
c.781A>T (p.Asn261Tyr)
c.655A>T (p.Asn219Tyr)
c.1018A>T (p.Asn340Tyr)
c.931A>T (p.Asn311Tyr)
c.885+235A>T (n.885+235A>T)
c.934A>T (p.Asn312Tyr)
6g.25812860T>CCA363157833SLC17A1c.868A>G (p.Asn290Asp)
c.*119A>G (n.*119A>G)
c.735+235A>G (n.735+235A>G)
c.781A>G (p.Asn261Asp)
c.655A>G (p.Asn219Asp)
c.1018A>G (p.Asn340Asp)
c.931A>G (p.Asn311Asp)
c.885+235A>G (n.885+235A>G)
c.934A>G (p.Asn312Asp)
6g.25812860T>GCA363157834SLC17A1c.868A>C (p.Asn290His)
c.*119A>C (n.*119A>C)
c.735+235A>C (n.735+235A>C)
c.781A>C (p.Asn261His)
c.655A>C (p.Asn219His)
c.1018A>C (p.Asn340His)
c.931A>C (p.Asn311His)
c.885+235A>C (n.885+235A>C)
c.934A>C (p.Asn312His)
6g.25812861G>ACA448980334SLC17A1c.867C>T (p.Ile289=)
c.*118C>T (n.*118C>T)
c.735+234C>T (n.735+234C>T)
c.780C>T (p.Ile260=)
c.654C>T (p.Ile218=)
c.1017C>T (p.Ile339=)
c.930C>T (p.Ile310=)
c.885+234C>T (n.885+234C>T)
c.933C>T (p.Ile311=)
6g.25812861G>CCA363157835SLC17A1c.867C>G (p.Ile289Met)
c.*118C>G (n.*118C>G)
c.735+234C>G (n.735+234C>G)
c.780C>G (p.Ile260Met)
c.654C>G (p.Ile218Met)
c.1017C>G (p.Ile339Met)
c.930C>G (p.Ile310Met)
c.885+234C>G (n.885+234C>G)
c.933C>G (p.Ile311Met)
gnomAD v4
6g.25812861G>TCA448980335SLC17A1c.867C>A (p.Ile289=)
c.*118C>A (n.*118C>A)
c.735+234C>A (n.735+234C>A)
c.780C>A (p.Ile260=)
c.654C>A (p.Ile218=)
c.1017C>A (p.Ile339=)
c.930C>A (p.Ile310=)
c.885+234C>A (n.885+234C>A)
c.933C>A (p.Ile311=)
gnomAD v4
6g.25812862A>CCA363157836SLC17A1c.866T>G (p.Ile289Ser)
c.*117T>G (n.*117T>G)
c.735+233T>G (n.735+233T>G)
c.779T>G (p.Ile260Ser)
c.653T>G (p.Ile218Ser)
c.1016T>G (p.Ile339Ser)
c.929T>G (p.Ile310Ser)
c.885+233T>G (n.885+233T>G)
c.932T>G (p.Ile311Ser)
6g.25812862A>GCA363157838SLC17A1c.866T>C (p.Ile289Thr)
c.*117T>C (n.*117T>C)
c.735+233T>C (n.735+233T>C)
c.779T>C (p.Ile260Thr)
c.653T>C (p.Ile218Thr)
c.1016T>C (p.Ile339Thr)
c.929T>C (p.Ile310Thr)
c.885+233T>C (n.885+233T>C)
c.932T>C (p.Ile311Thr)
dbSNP
6g.25812862A>TCA363157839SLC17A1c.866T>A (p.Ile289Asn)
c.*117T>A (n.*117T>A)
c.735+233T>A (n.735+233T>A)
c.779T>A (p.Ile260Asn)
c.653T>A (p.Ile218Asn)
c.1016T>A (p.Ile339Asn)
c.929T>A (p.Ile310Asn)
c.885+233T>A (n.885+233T>A)
c.932T>A (p.Ile311Asn)
6g.25812863T>ACA363157840SLC17A1c.865A>T (p.Ile289Phe)
c.*116A>T (n.*116A>T)
c.735+232A>T (n.735+232A>T)
c.778A>T (p.Ile260Phe)
c.652A>T (p.Ile218Phe)
c.1015A>T (p.Ile339Phe)
c.928A>T (p.Ile310Phe)
c.885+232A>T (n.885+232A>T)
c.931A>T (p.Ile311Phe)
6g.25812863T>CCA363157841SLC17A1c.865A>G (p.Ile289Val)
c.*116A>G (n.*116A>G)
c.735+232A>G (n.735+232A>G)
c.778A>G (p.Ile260Val)
c.652A>G (p.Ile218Val)
c.1015A>G (p.Ile339Val)
c.928A>G (p.Ile310Val)
c.885+232A>G (n.885+232A>G)
c.931A>G (p.Ile311Val)
6g.25812863T>GCA363157843SLC17A1c.865A>C (p.Ile289Leu)
c.*116A>C (n.*116A>C)
c.735+232A>C (n.735+232A>C)
c.778A>C (p.Ile260Leu)
c.652A>C (p.Ile218Leu)
c.1015A>C (p.Ile339Leu)
c.928A>C (p.Ile310Leu)
c.885+232A>C (n.885+232A>C)
c.931A>C (p.Ile311Leu)
6g.25812864A>CCA363157846SLC17A1c.864T>G (p.Phe288Leu)
c.*115T>G (n.*115T>G)
c.735+231T>G (n.735+231T>G)
c.777T>G (p.Phe259Leu)
c.651T>G (p.Phe217Leu)
c.1014T>G (p.Phe338Leu)
c.927T>G (p.Phe309Leu)
c.885+231T>G (n.885+231T>G)
c.930T>G (p.Phe310Leu)
6g.25812864A>GCA448980336SLC17A1c.864T>C (p.Phe288=)
c.*115T>C (n.*115T>C)
c.735+231T>C (n.735+231T>C)
c.777T>C (p.Phe259=)
c.651T>C (p.Phe217=)
c.1014T>C (p.Phe338=)
c.927T>C (p.Phe309=)
c.885+231T>C (n.885+231T>C)
c.930T>C (p.Phe310=)
6g.25812864A>TCA363157845SLC17A1c.864T>A (p.Phe288Leu)
c.*115T>A (n.*115T>A)
c.735+231T>A (n.735+231T>A)
c.777T>A (p.Phe259Leu)
c.651T>A (p.Phe217Leu)
c.1014T>A (p.Phe338Leu)
c.927T>A (p.Phe309Leu)
c.885+231T>A (n.885+231T>A)
c.930T>A (p.Phe310Leu)
6g.25812865A=CA1616765605SLC17A1c.863T= (p.Phe288=)
c.*114T= (n.*114T=)
c.735+230T= (n.735+230T=)
c.776T= (p.Phe259=)
c.650T= (p.Phe217=)
c.1013T= (p.Phe338=)
c.926T= (p.Phe309=)
c.885+230T= (n.885+230T=)
c.929T= (p.Phe310=)
6g.25812865A>CCA3662581SLC17A1c.863T>G (p.Phe288Cys)
c.*114T>G (n.*114T>G)
c.735+230T>G (n.735+230T>G)
c.776T>G (p.Phe259Cys)
c.650T>G (p.Phe217Cys)
c.1013T>G (p.Phe338Cys)
c.926T>G (p.Phe309Cys)
c.885+230T>G (n.885+230T>G)
c.929T>G (p.Phe310Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812865A>GCA363157850SLC17A1c.863T>C (p.Phe288Ser)
c.*114T>C (n.*114T>C)
c.735+230T>C (n.735+230T>C)
c.776T>C (p.Phe259Ser)
c.650T>C (p.Phe217Ser)
c.1013T>C (p.Phe338Ser)
c.926T>C (p.Phe309Ser)
c.885+230T>C (n.885+230T>C)
c.929T>C (p.Phe310Ser)
6g.25812865A>TCA363157849SLC17A1c.863T>A (p.Phe288Tyr)
c.*114T>A (n.*114T>A)
c.735+230T>A (n.735+230T>A)
c.776T>A (p.Phe259Tyr)
c.650T>A (p.Phe217Tyr)
c.1013T>A (p.Phe338Tyr)
c.926T>A (p.Phe309Tyr)
c.885+230T>A (n.885+230T>A)
c.929T>A (p.Phe310Tyr)
6g.25812866A=CA1616765606SLC17A1c.862T= (p.Phe288=)
c.*113T= (n.*113T=)
c.735+229T= (n.735+229T=)
c.775T= (p.Phe259=)
c.649T= (p.Phe217=)
c.1012T= (p.Phe338=)
c.925T= (p.Phe309=)
c.885+229T= (n.885+229T=)
c.928T= (p.Phe310=)
6g.25812866A>CCA363157853SLC17A1c.862T>G (p.Phe288Val)
c.*113T>G (n.*113T>G)
c.735+229T>G (n.735+229T>G)
c.775T>G (p.Phe259Val)
c.649T>G (p.Phe217Val)
c.1012T>G (p.Phe338Val)
c.925T>G (p.Phe309Val)
c.885+229T>G (n.885+229T>G)
c.928T>G (p.Phe310Val)
6g.25812866A>GCA363157855SLC17A1c.862T>C (p.Phe288Leu)
c.*113T>C (n.*113T>C)
c.735+229T>C (n.735+229T>C)
c.775T>C (p.Phe259Leu)
c.649T>C (p.Phe217Leu)
c.1012T>C (p.Phe338Leu)
c.925T>C (p.Phe309Leu)
c.885+229T>C (n.885+229T>C)
c.928T>C (p.Phe310Leu)
6g.25812866A>TCA3662582SLC17A1c.862T>A (p.Phe288Ile)
c.*113T>A (n.*113T>A)
c.735+229T>A (n.735+229T>A)
c.775T>A (p.Phe259Ile)
c.649T>A (p.Phe217Ile)
c.1012T>A (p.Phe338Ile)
c.925T>A (p.Phe309Ile)
c.885+229T>A (n.885+229T>A)
c.928T>A (p.Phe310Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812867C>ACA363157857SLC17A1c.861G>T (p.Met287Ile)
c.*112G>T (n.*112G>T)
c.735+228G>T (n.735+228G>T)
c.774G>T (p.Met258Ile)
c.648G>T (p.Met216Ile)
c.1011G>T (p.Met337Ile)
c.924G>T (p.Met308Ile)
c.885+228G>T (n.885+228G>T)
c.927G>T (p.Met309Ile)
6g.25812867C>GCA363157860SLC17A1c.861G>C (p.Met287Ile)
c.*112G>C (n.*112G>C)
c.735+228G>C (n.735+228G>C)
c.774G>C (p.Met258Ile)
c.648G>C (p.Met216Ile)
c.1011G>C (p.Met337Ile)
c.924G>C (p.Met308Ile)
c.885+228G>C (n.885+228G>C)
c.927G>C (p.Met309Ile)
6g.25812867C>TCA363157859SLC17A1c.861G>A (p.Met287Ile)
c.*112G>A (n.*112G>A)
c.735+228G>A (n.735+228G>A)
c.774G>A (p.Met258Ile)
c.648G>A (p.Met216Ile)
c.1011G>A (p.Met337Ile)
c.924G>A (p.Met308Ile)
c.885+228G>A (n.885+228G>A)
c.927G>A (p.Met309Ile)
6g.25812868A=CA1616765607SLC17A1c.860T= (p.Met287=)
c.*111T= (n.*111T=)
c.735+227T= (n.735+227T=)
c.773T= (p.Met258=)
c.647T= (p.Met216=)
c.1010T= (p.Met337=)
c.923T= (p.Met308=)
c.885+227T= (n.885+227T=)
c.926T= (p.Met309=)
6g.25812868A>CCA363157861SLC17A1c.860T>G (p.Met287Arg)
c.*111T>G (n.*111T>G)
c.735+227T>G (n.735+227T>G)
c.773T>G (p.Met258Arg)
c.647T>G (p.Met216Arg)
c.1010T>G (p.Met337Arg)
c.923T>G (p.Met308Arg)
c.885+227T>G (n.885+227T>G)
c.926T>G (p.Met309Arg)
6g.25812868A>GCA363157863SLC17A1c.860T>C (p.Met287Thr)
c.*111T>C (n.*111T>C)
c.735+227T>C (n.735+227T>C)
c.773T>C (p.Met258Thr)
c.647T>C (p.Met216Thr)
c.1010T>C (p.Met337Thr)
c.923T>C (p.Met308Thr)
c.885+227T>C (n.885+227T>C)
c.926T>C (p.Met309Thr)
6g.25812868A>TCA3662583SLC17A1c.860T>A (p.Met287Lys)
c.*111T>A (n.*111T>A)
c.735+227T>A (n.735+227T>A)
c.773T>A (p.Met258Lys)
c.647T>A (p.Met216Lys)
c.1010T>A (p.Met337Lys)
c.923T>A (p.Met308Lys)
c.885+227T>A (n.885+227T>A)
c.926T>A (p.Met309Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812869T>ACA363157866SLC17A1c.859A>T (p.Met287Leu)
c.*110A>T (n.*110A>T)
c.735+226A>T (n.735+226A>T)
c.772A>T (p.Met258Leu)
c.646A>T (p.Met216Leu)
c.1009A>T (p.Met337Leu)
c.922A>T (p.Met308Leu)
c.885+226A>T (n.885+226A>T)
c.925A>T (p.Met309Leu)
6g.25812869T>CCA363157867SLC17A1c.859A>G (p.Met287Val)
c.*110A>G (n.*110A>G)
c.735+226A>G (n.735+226A>G)
c.772A>G (p.Met258Val)
c.646A>G (p.Met216Val)
c.1009A>G (p.Met337Val)
c.922A>G (p.Met308Val)
c.885+226A>G (n.885+226A>G)
c.925A>G (p.Met309Val)
6g.25812869T>GCA363157869SLC17A1c.859A>C (p.Met287Leu)
c.*110A>C (n.*110A>C)
c.735+226A>C (n.735+226A>C)
c.772A>C (p.Met258Leu)
c.646A>C (p.Met216Leu)
c.1009A>C (p.Met337Leu)
c.922A>C (p.Met308Leu)
c.885+226A>C (n.885+226A>C)
c.925A>C (p.Met309Leu)
6g.25812870T>ACA448980337SLC17A1c.858A>T (p.Pro286=)
c.*109A>T (n.*109A>T)
c.735+225A>T (n.735+225A>T)
c.771A>T (p.Pro257=)
c.645A>T (p.Pro215=)
c.1008A>T (p.Pro336=)
c.921A>T (p.Pro307=)
c.885+225A>T (n.885+225A>T)
c.924A>T (p.Pro308=)
6g.25812870T>CCA3662584SLC17A1c.858A>G (p.Pro286=)
c.*109A>G (n.*109A>G)
c.735+225A>G (n.735+225A>G)
c.771A>G (p.Pro257=)
c.645A>G (p.Pro215=)
c.1008A>G (p.Pro336=)
c.921A>G (p.Pro307=)
c.885+225A>G (n.885+225A>G)
c.924A>G (p.Pro308=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812870T>GCA448980338SLC17A1c.858A>C (p.Pro286=)
c.*109A>C (n.*109A>C)
c.735+225A>C (n.735+225A>C)
c.771A>C (p.Pro257=)
c.645A>C (p.Pro215=)
c.1008A>C (p.Pro336=)
c.921A>C (p.Pro307=)
c.885+225A>C (n.885+225A>C)
c.924A>C (p.Pro308=)
6g.25812870T=CA1616765608SLC17A1c.858A= (p.Pro286=)
c.*109A= (n.*109A=)
c.735+225A= (n.735+225A=)
c.771A= (p.Pro257=)
c.645A= (p.Pro215=)
c.1008A= (p.Pro336=)
c.921A= (p.Pro307=)
c.885+225A= (n.885+225A=)
c.924A= (p.Pro308=)
6g.25812871G>ACA363157871SLC17A1c.857C>T (p.Pro286Leu)
c.*108C>T (n.*108C>T)
c.735+224C>T (n.735+224C>T)
c.770C>T (p.Pro257Leu)
c.644C>T (p.Pro215Leu)
c.1007C>T (p.Pro336Leu)
c.920C>T (p.Pro307Leu)
c.885+224C>T (n.885+224C>T)
c.923C>T (p.Pro308Leu)
6g.25812871G>CCA363157873SLC17A1c.857C>G (p.Pro286Arg)
c.*108C>G (n.*108C>G)
c.735+224C>G (n.735+224C>G)
c.770C>G (p.Pro257Arg)
c.644C>G (p.Pro215Arg)
c.1007C>G (p.Pro336Arg)
c.920C>G (p.Pro307Arg)
c.885+224C>G (n.885+224C>G)
c.923C>G (p.Pro308Arg)
6g.25812871G>TCA363157875SLC17A1c.857C>A (p.Pro286Gln)
c.*108C>A (n.*108C>A)
c.735+224C>A (n.735+224C>A)
c.770C>A (p.Pro257Gln)
c.644C>A (p.Pro215Gln)
c.1007C>A (p.Pro336Gln)
c.920C>A (p.Pro307Gln)
c.885+224C>A (n.885+224C>A)
c.923C>A (p.Pro308Gln)
6g.25812872G>ACA363157877SLC17A1c.856C>T (p.Pro286Ser)
c.*107C>T (n.*107C>T)
c.735+223C>T (n.735+223C>T)
c.769C>T (p.Pro257Ser)
c.643C>T (p.Pro215Ser)
c.1006C>T (p.Pro336Ser)
c.919C>T (p.Pro307Ser)
c.885+223C>T (n.885+223C>T)
c.922C>T (p.Pro308Ser)
dbSNP gnomAD v4
6g.25812872G>CCA363157879SLC17A1c.856C>G (p.Pro286Ala)
c.*107C>G (n.*107C>G)
c.735+223C>G (n.735+223C>G)
c.769C>G (p.Pro257Ala)
c.643C>G (p.Pro215Ala)
c.1006C>G (p.Pro336Ala)
c.919C>G (p.Pro307Ala)
c.885+223C>G (n.885+223C>G)
c.922C>G (p.Pro308Ala)
6g.25812872G=CA1616765609SLC17A1c.856C= (p.Pro286=)
c.*107C= (n.*107C=)
c.735+223C= (n.735+223C=)
c.769C= (p.Pro257=)
c.643C= (p.Pro215=)
c.1006C= (p.Pro336=)
c.919C= (p.Pro307=)
c.885+223C= (n.885+223C=)
c.922C= (p.Pro308=)
6g.25812872G>TCA363157880SLC17A1c.856C>A (p.Pro286Thr)
c.*107C>A (n.*107C>A)
c.735+223C>A (n.735+223C>A)
c.769C>A (p.Pro257Thr)
c.643C>A (p.Pro215Thr)
c.1006C>A (p.Pro336Thr)
c.919C>A (p.Pro307Thr)
c.885+223C>A (n.885+223C>A)
c.922C>A (p.Pro308Thr)
6g.25812873A=CA1616765610SLC17A1c.855T= (p.Thr285=)
c.*106T= (n.*106T=)
c.735+222T= (n.735+222T=)
c.768T= (p.Thr256=)
c.642T= (p.Thr214=)
c.1005T= (p.Thr335=)
c.918T= (p.Thr306=)
c.885+222T= (n.885+222T=)
c.921T= (p.Thr307=)
6g.25812873A>CCA136229852SLC17A1c.855T>G (p.Thr285=)
c.*106T>G (n.*106T>G)
c.735+222T>G (n.735+222T>G)
c.768T>G (p.Thr256=)
c.642T>G (p.Thr214=)
c.1005T>G (p.Thr335=)
c.918T>G (p.Thr306=)
c.885+222T>G (n.885+222T>G)
c.921T>G (p.Thr307=)
dbSNP gnomAD v2 gnomAD v4
6g.25812873A>GCA448980339SLC17A1c.855T>C (p.Thr285=)
c.*106T>C (n.*106T>C)
c.735+222T>C (n.735+222T>C)
c.768T>C (p.Thr256=)
c.642T>C (p.Thr214=)
c.1005T>C (p.Thr335=)
c.918T>C (p.Thr306=)
c.885+222T>C (n.885+222T>C)
c.921T>C (p.Thr307=)
gnomAD v4
6g.25812873A>TCA448980340SLC17A1c.855T>A (p.Thr285=)
c.*106T>A (n.*106T>A)
c.735+222T>A (n.735+222T>A)
c.768T>A (p.Thr256=)
c.642T>A (p.Thr214=)
c.1005T>A (p.Thr335=)
c.918T>A (p.Thr306=)
c.885+222T>A (n.885+222T>A)
c.921T>A (p.Thr307=)
dbSNP
6g.25812874G>ACA363157883SLC17A1c.854C>T (p.Thr285Ile)
c.*105C>T (n.*105C>T)
c.735+221C>T (n.735+221C>T)
c.767C>T (p.Thr256Ile)
c.641C>T (p.Thr214Ile)
c.1004C>T (p.Thr335Ile)
c.917C>T (p.Thr306Ile)
c.885+221C>T (n.885+221C>T)
c.920C>T (p.Thr307Ile)
6g.25812874G>CCA363157885SLC17A1c.854C>G (p.Thr285Ser)
c.*105C>G (n.*105C>G)
c.735+221C>G (n.735+221C>G)
c.767C>G (p.Thr256Ser)
c.641C>G (p.Thr214Ser)
c.1004C>G (p.Thr335Ser)
c.917C>G (p.Thr306Ser)
c.885+221C>G (n.885+221C>G)
c.920C>G (p.Thr307Ser)
6g.25812874G>TCA363157886SLC17A1c.854C>A (p.Thr285Asn)
c.*105C>A (n.*105C>A)
c.735+221C>A (n.735+221C>A)
c.767C>A (p.Thr256Asn)
c.641C>A (p.Thr214Asn)
c.1004C>A (p.Thr335Asn)
c.917C>A (p.Thr306Asn)
c.885+221C>A (n.885+221C>A)
c.920C>A (p.Thr307Asn)
6g.25812875T>ACA363157887SLC17A1c.853A>T (p.Thr285Ser)
c.*104A>T (n.*104A>T)
c.735+220A>T (n.735+220A>T)
c.766A>T (p.Thr256Ser)
c.640A>T (p.Thr214Ser)
c.1003A>T (p.Thr335Ser)
c.916A>T (p.Thr306Ser)
c.885+220A>T (n.885+220A>T)
c.919A>T (p.Thr307Ser)
6g.25812875T>CCA3662585SLC17A1c.853A>G (p.Thr285Ala)
c.*104A>G (n.*104A>G)
c.735+220A>G (n.735+220A>G)
c.766A>G (p.Thr256Ala)
c.640A>G (p.Thr214Ala)
c.1003A>G (p.Thr335Ala)
c.916A>G (p.Thr306Ala)
c.885+220A>G (n.885+220A>G)
c.919A>G (p.Thr307Ala)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.25812875T>GCA363157889SLC17A1c.853A>C (p.Thr285Pro)
c.*104A>C (n.*104A>C)
c.735+220A>C (n.735+220A>C)
c.766A>C (p.Thr256Pro)
c.640A>C (p.Thr214Pro)
c.1003A>C (p.Thr335Pro)
c.916A>C (p.Thr306Pro)
c.885+220A>C (n.885+220A>C)
c.919A>C (p.Thr307Pro)
6g.25812875T=CA1616765611SLC17A1c.853A= (p.Thr285=)
c.*104A= (n.*104A=)
c.735+220A= (n.735+220A=)
c.766A= (p.Thr256=)
c.640A= (p.Thr214=)
c.1003A= (p.Thr335=)
c.916A= (p.Thr306=)
c.885+220A= (n.885+220A=)
c.919A= (p.Thr307=)
6g.25812876G>ACA448980341SLC17A1c.852C>T (p.Tyr284=)
c.*103C>T (n.*103C>T)
c.735+219C>T (n.735+219C>T)
c.765C>T (p.Tyr255=)
c.639C>T (p.Tyr213=)
c.1002C>T (p.Tyr334=)
c.915C>T (p.Tyr305=)
c.885+219C>T (n.885+219C>T)
c.918C>T (p.Tyr306=)
6g.25812876G>CCA363157891SLC17A1c.852C>G (p.Tyr284Ter)
c.*103C>G (n.*103C>G)
c.735+219C>G (n.735+219C>G)
c.765C>G (p.Tyr255Ter)
c.639C>G (p.Tyr213Ter)
c.1002C>G (p.Tyr334Ter)
c.915C>G (p.Tyr305Ter)
c.885+219C>G (n.885+219C>G)
c.918C>G (p.Tyr306Ter)
6g.25812876G>TCA363157892SLC17A1c.852C>A (p.Tyr284Ter)
c.*103C>A (n.*103C>A)
c.735+219C>A (n.735+219C>A)
c.765C>A (p.Tyr255Ter)
c.639C>A (p.Tyr213Ter)
c.1002C>A (p.Tyr334Ter)
c.915C>A (p.Tyr305Ter)
c.885+219C>A (n.885+219C>A)
c.918C>A (p.Tyr306Ter)
6g.25812877T>ACA363157894SLC17A1c.851A>T (p.Tyr284Phe)
c.*102A>T (n.*102A>T)
c.735+218A>T (n.735+218A>T)
c.764A>T (p.Tyr255Phe)
c.638A>T (p.Tyr213Phe)
c.1001A>T (p.Tyr334Phe)
c.914A>T (p.Tyr305Phe)
c.885+218A>T (n.885+218A>T)
c.917A>T (p.Tyr306Phe)
6g.25812877T>CCA363157896SLC17A1c.851A>G (p.Tyr284Cys)
c.*102A>G (n.*102A>G)
c.735+218A>G (n.735+218A>G)
c.764A>G (p.Tyr255Cys)
c.638A>G (p.Tyr213Cys)
c.1001A>G (p.Tyr334Cys)
c.914A>G (p.Tyr305Cys)
c.885+218A>G (n.885+218A>G)
c.917A>G (p.Tyr306Cys)
gnomAD v4
6g.25812877T>GCA363157898SLC17A1c.851A>C (p.Tyr284Ser)
c.*102A>C (n.*102A>C)
c.735+218A>C (n.735+218A>C)
c.764A>C (p.Tyr255Ser)
c.638A>C (p.Tyr213Ser)
c.1001A>C (p.Tyr334Ser)
c.914A>C (p.Tyr305Ser)
c.885+218A>C (n.885+218A>C)
c.917A>C (p.Tyr306Ser)
6g.25812878A=CA1616765612SLC17A1c.850T= (p.Tyr284=)
c.*101T= (n.*101T=)
c.735+217T= (n.735+217T=)
c.763T= (p.Tyr255=)
c.637T= (p.Tyr213=)
c.1000T= (p.Tyr334=)
c.913T= (p.Tyr305=)
c.885+217T= (n.885+217T=)
c.916T= (p.Tyr306=)
6g.25812878A>CCA363157899SLC17A1c.850T>G (p.Tyr284Asp)
c.*101T>G (n.*101T>G)
c.735+217T>G (n.735+217T>G)
c.763T>G (p.Tyr255Asp)
c.637T>G (p.Tyr213Asp)
c.1000T>G (p.Tyr334Asp)
c.913T>G (p.Tyr305Asp)
c.885+217T>G (n.885+217T>G)
c.916T>G (p.Tyr306Asp)
6g.25812878A>GCA3662586SLC17A1c.850T>C (p.Tyr284His)
c.*101T>C (n.*101T>C)
c.735+217T>C (n.735+217T>C)
c.763T>C (p.Tyr255His)
c.637T>C (p.Tyr213His)
c.1000T>C (p.Tyr334His)
c.913T>C (p.Tyr305His)
c.885+217T>C (n.885+217T>C)
c.916T>C (p.Tyr306His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812878A>TCA363157901SLC17A1c.850T>A (p.Tyr284Asn)
c.*101T>A (n.*101T>A)
c.735+217T>A (n.735+217T>A)
c.763T>A (p.Tyr255Asn)
c.637T>A (p.Tyr213Asn)
c.1000T>A (p.Tyr334Asn)
c.913T>A (p.Tyr305Asn)
c.885+217T>A (n.885+217T>A)
c.916T>A (p.Tyr306Asn)
6g.25812879T>ACA448980344SLC17A1c.849A>T (p.Leu283=)
c.*100A>T (n.*100A>T)
c.735+216A>T (n.735+216A>T)
c.762A>T (p.Leu254=)
c.636A>T (p.Leu212=)
c.999A>T (p.Leu333=)
c.912A>T (p.Leu304=)
c.885+216A>T (n.885+216A>T)
c.915A>T (p.Leu305=)
gnomAD v4
6g.25812879T>CCA448980343SLC17A1c.849A>G (p.Leu283=)
c.*100A>G (n.*100A>G)
c.735+216A>G (n.735+216A>G)
c.762A>G (p.Leu254=)
c.636A>G (p.Leu212=)
c.999A>G (p.Leu333=)
c.912A>G (p.Leu304=)
c.885+216A>G (n.885+216A>G)
c.915A>G (p.Leu305=)
dbSNP gnomAD v2 gnomAD v4
6g.25812879T>GCA448980342SLC17A1c.849A>C (p.Leu283=)
c.*100A>C (n.*100A>C)
c.735+216A>C (n.735+216A>C)
c.762A>C (p.Leu254=)
c.636A>C (p.Leu212=)
c.999A>C (p.Leu333=)
c.912A>C (p.Leu304=)
c.885+216A>C (n.885+216A>C)
c.915A>C (p.Leu305=)
6g.25812879T=CA1616765613SLC17A1c.849A= (p.Leu283=)
c.*100A= (n.*100A=)
c.735+216A= (n.735+216A=)
c.762A= (p.Leu254=)
c.636A= (p.Leu212=)
c.999A= (p.Leu333=)
c.912A= (p.Leu304=)
c.885+216A= (n.885+216A=)
c.915A= (p.Leu305=)
6g.25812880A=CA1616765614SLC17A1c.848T= (p.Leu283=)
c.*99T= (n.*99T=)
c.735+215T= (n.735+215T=)
c.761T= (p.Leu254=)
c.635T= (p.Leu212=)
c.998T= (p.Leu333=)
c.911T= (p.Leu304=)
c.885+215T= (n.885+215T=)
c.914T= (p.Leu305=)
6g.25812880A>CCA3662587SLC17A1c.848T>G (p.Leu283Arg)
c.*99T>G (n.*99T>G)
c.735+215T>G (n.735+215T>G)
c.761T>G (p.Leu254Arg)
c.635T>G (p.Leu212Arg)
c.998T>G (p.Leu333Arg)
c.911T>G (p.Leu304Arg)
c.885+215T>G (n.885+215T>G)
c.914T>G (p.Leu305Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812880A>GCA363157903SLC17A1c.848T>C (p.Leu283Pro)
c.*99T>C (n.*99T>C)
c.735+215T>C (n.735+215T>C)
c.761T>C (p.Leu254Pro)
c.635T>C (p.Leu212Pro)
c.998T>C (p.Leu333Pro)
c.911T>C (p.Leu304Pro)
c.885+215T>C (n.885+215T>C)
c.914T>C (p.Leu305Pro)
6g.25812880A>TCA363157905SLC17A1c.848T>A (p.Leu283Gln)
c.*99T>A (n.*99T>A)
c.735+215T>A (n.735+215T>A)
c.761T>A (p.Leu254Gln)
c.635T>A (p.Leu212Gln)
c.998T>A (p.Leu333Gln)
c.911T>A (p.Leu304Gln)
c.885+215T>A (n.885+215T>A)
c.914T>A (p.Leu305Gln)
6g.25812881_25812942delCA645552929SLC17A1c.787_848del (p.Pro263IlefsTer13)
c.*38_*99del (n.*38_*99del)
c.735+154_735+215del (n.735+154_735+215del)
c.700_761del (p.Pro234IlefsTer13)
c.574_635del (p.Pro192IlefsTer13)
c.937_998del (p.Pro313IlefsTer13)
c.850_911del (p.Pro284IlefsTer13)
c.885+154_885+215del (n.885+154_885+215del)
c.853_914del (p.Pro285IlefsTer13)
COSMIC
6g.25812881G>ACA448980345SLC17A1c.847C>T (p.Leu283=)
c.*98C>T (n.*98C>T)
c.735+214C>T (n.735+214C>T)
c.760C>T (p.Leu254=)
c.634C>T (p.Leu212=)
c.997C>T (p.Leu333=)
c.910C>T (p.Leu304=)
c.885+214C>T (n.885+214C>T)
c.913C>T (p.Leu305=)
6g.25812881G>CCA363157907SLC17A1c.847C>G (p.Leu283Val)
c.*98C>G (n.*98C>G)
c.735+214C>G (n.735+214C>G)
c.760C>G (p.Leu254Val)
c.634C>G (p.Leu212Val)
c.997C>G (p.Leu333Val)
c.910C>G (p.Leu304Val)
c.885+214C>G (n.885+214C>G)
c.913C>G (p.Leu305Val)
6g.25812881G>TCA363157909SLC17A1c.847C>A (p.Leu283Ile)
c.*98C>A (n.*98C>A)
c.735+214C>A (n.735+214C>A)
c.760C>A (p.Leu254Ile)
c.634C>A (p.Leu212Ile)
c.997C>A (p.Leu333Ile)
c.910C>A (p.Leu304Ile)
c.885+214C>A (n.885+214C>A)
c.913C>A (p.Leu305Ile)
6g.25812882T>ACA448980346SLC17A1c.846A>T (p.Thr282=)
c.*97A>T (n.*97A>T)
c.735+213A>T (n.735+213A>T)
c.759A>T (p.Thr253=)
c.633A>T (p.Thr211=)
c.996A>T (p.Thr332=)
c.909A>T (p.Thr303=)
c.885+213A>T (n.885+213A>T)
c.912A>T (p.Thr304=)
gnomAD v4
6g.25812882T>CCA448980348SLC17A1c.846A>G (p.Thr282=)
c.*97A>G (n.*97A>G)
c.735+213A>G (n.735+213A>G)
c.759A>G (p.Thr253=)
c.633A>G (p.Thr211=)
c.996A>G (p.Thr332=)
c.909A>G (p.Thr303=)
c.885+213A>G (n.885+213A>G)
c.912A>G (p.Thr304=)
dbSNP
6g.25812882T>GCA448980347SLC17A1c.846A>C (p.Thr282=)
c.*97A>C (n.*97A>C)
c.735+213A>C (n.735+213A>C)
c.759A>C (p.Thr253=)
c.633A>C (p.Thr211=)
c.996A>C (p.Thr332=)
c.909A>C (p.Thr303=)
c.885+213A>C (n.885+213A>C)
c.912A>C (p.Thr304=)
6g.25812882T=CA1616765615SLC17A1c.846A= (p.Thr282=)
c.*97A= (n.*97A=)
c.735+213A= (n.735+213A=)
c.759A= (p.Thr253=)
c.633A= (p.Thr211=)
c.996A= (p.Thr332=)
c.909A= (p.Thr303=)
c.885+213A= (n.885+213A=)
c.912A= (p.Thr304=)
6g.25812883G>ACA363157911SLC17A1c.845C>T (p.Thr282Ile)
c.*96C>T (n.*96C>T)
c.735+212C>T (n.735+212C>T)
c.758C>T (p.Thr253Ile)
c.632C>T (p.Thr211Ile)
c.995C>T (p.Thr332Ile)
c.908C>T (p.Thr303Ile)
c.885+212C>T (n.885+212C>T)
c.911C>T (p.Thr304Ile)
6g.25812883G>CCA363157912SLC17A1c.845C>G (p.Thr282Arg)
c.*96C>G (n.*96C>G)
c.735+212C>G (n.735+212C>G)
c.758C>G (p.Thr253Arg)
c.632C>G (p.Thr211Arg)
c.995C>G (p.Thr332Arg)
c.908C>G (p.Thr303Arg)
c.885+212C>G (n.885+212C>G)
c.911C>G (p.Thr304Arg)
gnomAD v4
6g.25812883G>TCA363157914SLC17A1c.845C>A (p.Thr282Lys)
c.*96C>A (n.*96C>A)
c.735+212C>A (n.735+212C>A)
c.758C>A (p.Thr253Lys)
c.632C>A (p.Thr211Lys)
c.995C>A (p.Thr332Lys)
c.908C>A (p.Thr303Lys)
c.885+212C>A (n.885+212C>A)
c.911C>A (p.Thr304Lys)
gnomAD v4
6g.25812884T>ACA363157919SLC17A1c.844A>T (p.Thr282Ser)
c.*95A>T (n.*95A>T)
c.735+211A>T (n.735+211A>T)
c.757A>T (p.Thr253Ser)
c.631A>T (p.Thr211Ser)
c.994A>T (p.Thr332Ser)
c.907A>T (p.Thr303Ser)
c.885+211A>T (n.885+211A>T)
c.910A>T (p.Thr304Ser)
6g.25812884T>CCA363157917SLC17A1c.844A>G (p.Thr282Ala)
c.*95A>G (n.*95A>G)
c.735+211A>G (n.735+211A>G)
c.757A>G (p.Thr253Ala)
c.631A>G (p.Thr211Ala)
c.994A>G (p.Thr332Ala)
c.907A>G (p.Thr303Ala)
c.885+211A>G (n.885+211A>G)
c.910A>G (p.Thr304Ala)
dbSNP gnomAD v3 gnomAD v4
6g.25812884T>GCA363157916SLC17A1c.844A>C (p.Thr282Pro)
c.*95A>C (n.*95A>C)
c.735+211A>C (n.735+211A>C)
c.757A>C (p.Thr253Pro)
c.631A>C (p.Thr211Pro)
c.994A>C (p.Thr332Pro)
c.907A>C (p.Thr303Pro)
c.885+211A>C (n.885+211A>C)
c.910A>C (p.Thr304Pro)
6g.25812884T=CA1616765616SLC17A1c.844A= (p.Thr282=)
c.*95A= (n.*95A=)
c.735+211A= (n.735+211A=)
c.757A= (p.Thr253=)
c.631A= (p.Thr211=)
c.994A= (p.Thr332=)
c.907A= (p.Thr303=)
c.885+211A= (n.885+211A=)
c.910A= (p.Thr304=)
6g.25812885C>ACA363157921SLC17A1c.843G>T (p.Met281Ile)
c.*94G>T (n.*94G>T)
c.735+210G>T (n.735+210G>T)
c.756G>T (p.Met252Ile)
c.630G>T (p.Met210Ile)
c.993G>T (p.Met331Ile)
c.906G>T (p.Met302Ile)
c.885+210G>T (n.885+210G>T)
c.909G>T (p.Met303Ile)
gnomAD v4
6g.25812885C>GCA363157923SLC17A1c.843G>C (p.Met281Ile)
c.*94G>C (n.*94G>C)
c.735+210G>C (n.735+210G>C)
c.756G>C (p.Met252Ile)
c.630G>C (p.Met210Ile)
c.993G>C (p.Met331Ile)
c.906G>C (p.Met302Ile)
c.885+210G>C (n.885+210G>C)
c.909G>C (p.Met303Ile)
6g.25812885C>TCA363157924SLC17A1c.843G>A (p.Met281Ile)
c.*94G>A (n.*94G>A)
c.735+210G>A (n.735+210G>A)
c.756G>A (p.Met252Ile)
c.630G>A (p.Met210Ile)
c.993G>A (p.Met331Ile)
c.906G>A (p.Met302Ile)
c.885+210G>A (n.885+210G>A)
c.909G>A (p.Met303Ile)
6g.25812886A>CCA363157925SLC17A1c.842T>G (p.Met281Arg)
c.*93T>G (n.*93T>G)
c.735+209T>G (n.735+209T>G)
c.755T>G (p.Met252Arg)
c.629T>G (p.Met210Arg)
c.992T>G (p.Met331Arg)
c.905T>G (p.Met302Arg)
c.885+209T>G (n.885+209T>G)
c.908T>G (p.Met303Arg)
6g.25812886A>GCA363157927SLC17A1c.842T>C (p.Met281Thr)
c.*93T>C (n.*93T>C)
c.735+209T>C (n.735+209T>C)
c.755T>C (p.Met252Thr)
c.629T>C (p.Met210Thr)
c.992T>C (p.Met331Thr)
c.905T>C (p.Met302Thr)
c.885+209T>C (n.885+209T>C)
c.908T>C (p.Met303Thr)
6g.25812886A>TCA363157928SLC17A1c.842T>A (p.Met281Lys)
c.*93T>A (n.*93T>A)
c.735+209T>A (n.735+209T>A)
c.755T>A (p.Met252Lys)
c.629T>A (p.Met210Lys)
c.992T>A (p.Met331Lys)
c.905T>A (p.Met302Lys)
c.885+209T>A (n.885+209T>A)
c.908T>A (p.Met303Lys)
6g.25812887T>ACA363157933SLC17A1c.841A>T (p.Met281Leu)
c.*92A>T (n.*92A>T)
c.735+208A>T (n.735+208A>T)
c.754A>T (p.Met252Leu)
c.628A>T (p.Met210Leu)
c.991A>T (p.Met331Leu)
c.904A>T (p.Met302Leu)
c.885+208A>T (n.885+208A>T)
c.907A>T (p.Met303Leu)
gnomAD v4
6g.25812887T>CCA363157930SLC17A1c.841A>G (p.Met281Val)
c.*92A>G (n.*92A>G)
c.735+208A>G (n.735+208A>G)
c.754A>G (p.Met252Val)
c.628A>G (p.Met210Val)
c.991A>G (p.Met331Val)
c.904A>G (p.Met302Val)
c.885+208A>G (n.885+208A>G)
c.907A>G (p.Met303Val)
6g.25812887T>GCA363157931SLC17A1c.841A>C (p.Met281Leu)
c.*92A>C (n.*92A>C)
c.735+208A>C (n.735+208A>C)
c.754A>C (p.Met252Leu)
c.628A>C (p.Met210Leu)
c.991A>C (p.Met331Leu)
c.904A>C (p.Met302Leu)
c.885+208A>C (n.885+208A>C)
c.907A>C (p.Met303Leu)
6g.25812888G>ACA448980349SLC17A1c.840C>T (p.Ile280=)
c.*91C>T (n.*91C>T)
c.735+207C>T (n.735+207C>T)
c.753C>T (p.Ile251=)
c.627C>T (p.Ile209=)
c.990C>T (p.Ile330=)
c.903C>T (p.Ile301=)
c.885+207C>T (n.885+207C>T)
c.906C>T (p.Ile302=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.25812888G>CCA363157935SLC17A1c.840C>G (p.Ile280Met)
c.*91C>G (n.*91C>G)
c.735+207C>G (n.735+207C>G)
c.753C>G (p.Ile251Met)
c.627C>G (p.Ile209Met)
c.990C>G (p.Ile330Met)
c.903C>G (p.Ile301Met)
c.885+207C>G (n.885+207C>G)
c.906C>G (p.Ile302Met)
6g.25812888G>TCA448980350SLC17A1c.840C>A (p.Ile280=)
c.*91C>A (n.*91C>A)
c.735+207C>A (n.735+207C>A)
c.753C>A (p.Ile251=)
c.627C>A (p.Ile209=)
c.990C>A (p.Ile330=)
c.903C>A (p.Ile301=)
c.885+207C>A (n.885+207C>A)
c.906C>A (p.Ile302=)
gnomAD v4
6g.25812889A>CCA363157937SLC17A1c.839T>G (p.Ile280Ser)
c.*90T>G (n.*90T>G)
c.735+206T>G (n.735+206T>G)
c.752T>G (p.Ile251Ser)
c.626T>G (p.Ile209Ser)
c.989T>G (p.Ile330Ser)
c.902T>G (p.Ile301Ser)
c.885+206T>G (n.885+206T>G)
c.905T>G (p.Ile302Ser)
6g.25812889A>GCA363157938SLC17A1c.839T>C (p.Ile280Thr)
c.*90T>C (n.*90T>C)
c.735+206T>C (n.735+206T>C)
c.752T>C (p.Ile251Thr)
c.626T>C (p.Ile209Thr)
c.989T>C (p.Ile330Thr)
c.902T>C (p.Ile301Thr)
c.885+206T>C (n.885+206T>C)
c.905T>C (p.Ile302Thr)
6g.25812889A>TCA363157939SLC17A1c.839T>A (p.Ile280Asn)
c.*90T>A (n.*90T>A)
c.735+206T>A (n.735+206T>A)
c.752T>A (p.Ile251Asn)
c.626T>A (p.Ile209Asn)
c.989T>A (p.Ile330Asn)
c.902T>A (p.Ile301Asn)
c.885+206T>A (n.885+206T>A)
c.905T>A (p.Ile302Asn)
6g.25812890T>ACA363157940SLC17A1c.838A>T (p.Ile280Phe)
c.*89A>T (n.*89A>T)
c.735+205A>T (n.735+205A>T)
c.751A>T (p.Ile251Phe)
c.625A>T (p.Ile209Phe)
c.988A>T (p.Ile330Phe)
c.901A>T (p.Ile301Phe)
c.885+205A>T (n.885+205A>T)
c.904A>T (p.Ile302Phe)
6g.25812890T>CCA363157942SLC17A1c.838A>G (p.Ile280Val)
c.*89A>G (n.*89A>G)
c.735+205A>G (n.735+205A>G)
c.751A>G (p.Ile251Val)
c.625A>G (p.Ile209Val)
c.988A>G (p.Ile330Val)
c.901A>G (p.Ile301Val)
c.885+205A>G (n.885+205A>G)
c.904A>G (p.Ile302Val)
dbSNP gnomAD v2 gnomAD v4
6g.25812890T>GCA363157943SLC17A1c.838A>C (p.Ile280Leu)
c.*89A>C (n.*89A>C)
c.735+205A>C (n.735+205A>C)
c.751A>C (p.Ile251Leu)
c.625A>C (p.Ile209Leu)
c.988A>C (p.Ile330Leu)
c.901A>C (p.Ile301Leu)
c.885+205A>C (n.885+205A>C)
c.904A>C (p.Ile302Leu)
6g.25812890T=CA1616765617SLC17A1c.838A= (p.Ile280=)
c.*89A= (n.*89A=)
c.735+205A= (n.735+205A=)
c.751A= (p.Ile251=)
c.625A= (p.Ile209=)
c.988A= (p.Ile330=)
c.901A= (p.Ile301=)
c.885+205A= (n.885+205A=)
c.904A= (p.Ile302=)
6g.25812891G>ACA3662588SLC17A1c.837C>T (p.Asn279=)
c.*88C>T (n.*88C>T)
c.735+204C>T (n.735+204C>T)
c.750C>T (p.Asn250=)
c.624C>T (p.Asn208=)
c.987C>T (p.Asn329=)
c.900C>T (p.Asn300=)
c.885+204C>T (n.885+204C>T)
c.903C>T (p.Asn301=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812891G>CCA363157946SLC17A1c.837C>G (p.Asn279Lys)
c.*88C>G (n.*88C>G)
c.735+204C>G (n.735+204C>G)
c.750C>G (p.Asn250Lys)
c.624C>G (p.Asn208Lys)
c.987C>G (p.Asn329Lys)
c.900C>G (p.Asn300Lys)
c.885+204C>G (n.885+204C>G)
c.903C>G (p.Asn301Lys)
6g.25812891G=CA1616765618SLC17A1c.837C= (p.Asn279=)
c.*88C= (n.*88C=)
c.735+204C= (n.735+204C=)
c.750C= (p.Asn250=)
c.624C= (p.Asn208=)
c.987C= (p.Asn329=)
c.900C= (p.Asn300=)
c.885+204C= (n.885+204C=)
c.903C= (p.Asn301=)
6g.25812891G>TCA363157947SLC17A1c.837C>A (p.Asn279Lys)
c.*88C>A (n.*88C>A)
c.735+204C>A (n.735+204C>A)
c.750C>A (p.Asn250Lys)
c.624C>A (p.Asn208Lys)
c.987C>A (p.Asn329Lys)
c.900C>A (p.Asn300Lys)
c.885+204C>A (n.885+204C>A)
c.903C>A (p.Asn301Lys)
6g.25812892T>ACA363157949SLC17A1c.836A>T (p.Asn279Ile)
c.*87A>T (n.*87A>T)
c.735+203A>T (n.735+203A>T)
c.749A>T (p.Asn250Ile)
c.623A>T (p.Asn208Ile)
c.986A>T (p.Asn329Ile)
c.899A>T (p.Asn300Ile)
c.885+203A>T (n.885+203A>T)
c.902A>T (p.Asn301Ile)
6g.25812892T>CCA363157950SLC17A1c.836A>G (p.Asn279Ser)
c.*87A>G (n.*87A>G)
c.735+203A>G (n.735+203A>G)
c.749A>G (p.Asn250Ser)
c.623A>G (p.Asn208Ser)
c.986A>G (p.Asn329Ser)
c.899A>G (p.Asn300Ser)
c.885+203A>G (n.885+203A>G)
c.902A>G (p.Asn301Ser)
6g.25812892T>GCA363157952SLC17A1c.836A>C (p.Asn279Thr)
c.*87A>C (n.*87A>C)
c.735+203A>C (n.735+203A>C)
c.749A>C (p.Asn250Thr)
c.623A>C (p.Asn208Thr)
c.986A>C (p.Asn329Thr)
c.899A>C (p.Asn300Thr)
c.885+203A>C (n.885+203A>C)
c.902A>C (p.Asn301Thr)
6g.25812893T>ACA363157954SLC17A1c.835A>T (p.Asn279Tyr)
c.*86A>T (n.*86A>T)
c.735+202A>T (n.735+202A>T)
c.748A>T (p.Asn250Tyr)
c.622A>T (p.Asn208Tyr)
c.985A>T (p.Asn329Tyr)
c.898A>T (p.Asn300Tyr)
c.885+202A>T (n.885+202A>T)
c.901A>T (p.Asn301Tyr)
6g.25812893T>CCA363157957SLC17A1c.835A>G (p.Asn279Asp)
c.*86A>G (n.*86A>G)
c.735+202A>G (n.735+202A>G)
c.748A>G (p.Asn250Asp)
c.622A>G (p.Asn208Asp)
c.985A>G (p.Asn329Asp)
c.898A>G (p.Asn300Asp)
c.885+202A>G (n.885+202A>G)
c.901A>G (p.Asn301Asp)
6g.25812893T>GCA363157956SLC17A1c.835A>C (p.Asn279His)
c.*86A>C (n.*86A>C)
c.735+202A>C (n.735+202A>C)
c.748A>C (p.Asn250His)
c.622A>C (p.Asn208His)
c.985A>C (p.Asn329His)
c.898A>C (p.Asn300His)
c.885+202A>C (n.885+202A>C)
c.901A>C (p.Asn301His)
6g.25812894A>CCA363157959SLC17A1c.834T>G (p.His278Gln)
c.*85T>G (n.*85T>G)
c.735+201T>G (n.735+201T>G)
c.747T>G (p.His249Gln)
c.621T>G (p.His207Gln)
c.984T>G (p.His328Gln)
c.897T>G (p.His299Gln)
c.885+201T>G (n.885+201T>G)
c.900T>G (p.His300Gln)
6g.25812894A>GCA448980351SLC17A1c.834T>C (p.His278=)
c.*85T>C (n.*85T>C)
c.735+201T>C (n.735+201T>C)
c.747T>C (p.His249=)
c.621T>C (p.His207=)
c.984T>C (p.His328=)
c.897T>C (p.His299=)
c.885+201T>C (n.885+201T>C)
c.900T>C (p.His300=)
6g.25812894A>TCA363157961SLC17A1c.834T>A (p.His278Gln)
c.*85T>A (n.*85T>A)
c.735+201T>A (n.735+201T>A)
c.747T>A (p.His249Gln)
c.621T>A (p.His207Gln)
c.984T>A (p.His328Gln)
c.897T>A (p.His299Gln)
c.885+201T>A (n.885+201T>A)
c.900T>A (p.His300Gln)
gnomAD v4
6g.25812895T>ACA363157963SLC17A1c.833A>T (p.His278Leu)
c.*84A>T (n.*84A>T)
c.735+200A>T (n.735+200A>T)
c.746A>T (p.His249Leu)
c.620A>T (p.His207Leu)
c.983A>T (p.His328Leu)
c.896A>T (p.His299Leu)
c.885+200A>T (n.885+200A>T)
c.899A>T (p.His300Leu)
6g.25812895T>CCA3662589SLC17A1c.833A>G (p.His278Arg)
c.*84A>G (n.*84A>G)
c.735+200A>G (n.735+200A>G)
c.746A>G (p.His249Arg)
c.620A>G (p.His207Arg)
c.983A>G (p.His328Arg)
c.896A>G (p.His299Arg)
c.885+200A>G (n.885+200A>G)
c.899A>G (p.His300Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812895T>GCA363157964SLC17A1c.833A>C (p.His278Pro)
c.*84A>C (n.*84A>C)
c.735+200A>C (n.735+200A>C)
c.746A>C (p.His249Pro)
c.620A>C (p.His207Pro)
c.983A>C (p.His328Pro)
c.896A>C (p.His299Pro)
c.885+200A>C (n.885+200A>C)
c.899A>C (p.His300Pro)
6g.25812895T=CA1616765619SLC17A1c.833A= (p.His278=)
c.*84A= (n.*84A=)
c.735+200A= (n.735+200A=)
c.746A= (p.His249=)
c.620A= (p.His207=)
c.983A= (p.His328=)
c.896A= (p.His299=)
c.885+200A= (n.885+200A=)
c.899A= (p.His300=)
6g.25812896G>ACA363157965SLC17A1c.832C>T (p.His278Tyr)
c.*83C>T (n.*83C>T)
c.735+199C>T (n.735+199C>T)
c.745C>T (p.His249Tyr)
c.619C>T (p.His207Tyr)
c.982C>T (p.His328Tyr)
c.895C>T (p.His299Tyr)
c.885+199C>T (n.885+199C>T)
c.898C>T (p.His300Tyr)
6g.25812896G>CCA363157967SLC17A1c.832C>G (p.His278Asp)
c.*83C>G (n.*83C>G)
c.735+199C>G (n.735+199C>G)
c.745C>G (p.His249Asp)
c.619C>G (p.His207Asp)
c.982C>G (p.His328Asp)
c.895C>G (p.His299Asp)
c.885+199C>G (n.885+199C>G)
c.898C>G (p.His300Asp)
6g.25812896G>TCA363157968SLC17A1c.832C>A (p.His278Asn)
c.*83C>A (n.*83C>A)
c.735+199C>A (n.735+199C>A)
c.745C>A (p.His249Asn)
c.619C>A (p.His207Asn)
c.982C>A (p.His328Asn)
c.895C>A (p.His299Asn)
c.885+199C>A (n.885+199C>A)
c.898C>A (p.His300Asn)
6g.25812897T>ACA448980352SLC17A1c.831A>T (p.Ser277=)
c.*82A>T (n.*82A>T)
c.735+198A>T (n.735+198A>T)
c.744A>T (p.Ser248=)
c.618A>T (p.Ser206=)
c.981A>T (p.Ser327=)
c.894A>T (p.Ser298=)
c.885+198A>T (n.885+198A>T)
c.897A>T (p.Ser299=)
6g.25812897T>CCA448980354SLC17A1c.831A>G (p.Ser277=)
c.*82A>G (n.*82A>G)
c.735+198A>G (n.735+198A>G)
c.744A>G (p.Ser248=)
c.618A>G (p.Ser206=)
c.981A>G (p.Ser327=)
c.894A>G (p.Ser298=)
c.885+198A>G (n.885+198A>G)
c.897A>G (p.Ser299=)
6g.25812897T>GCA448980353SLC17A1c.831A>C (p.Ser277=)
c.*82A>C (n.*82A>C)
c.735+198A>C (n.735+198A>C)
c.744A>C (p.Ser248=)
c.618A>C (p.Ser206=)
c.981A>C (p.Ser327=)
c.894A>C (p.Ser298=)
c.885+198A>C (n.885+198A>C)
c.897A>C (p.Ser299=)
6g.25812898G>ACA363157970SLC17A1c.830C>T (p.Ser277Leu)
c.*81C>T (n.*81C>T)
c.735+197C>T (n.735+197C>T)
c.743C>T (p.Ser248Leu)
c.617C>T (p.Ser206Leu)
c.980C>T (p.Ser327Leu)
c.893C>T (p.Ser298Leu)
c.885+197C>T (n.885+197C>T)
c.896C>T (p.Ser299Leu)
6g.25812898G>CCA363157971SLC17A1c.830C>G (p.Ser277Ter)
c.*81C>G (n.*81C>G)
c.735+197C>G (n.735+197C>G)
c.743C>G (p.Ser248Ter)
c.617C>G (p.Ser206Ter)
c.980C>G (p.Ser327Ter)
c.893C>G (p.Ser298Ter)
c.885+197C>G (n.885+197C>G)
c.896C>G (p.Ser299Ter)
6g.25812898G>TCA363157972SLC17A1c.830C>A (p.Ser277Ter)
c.*81C>A (n.*81C>A)
c.735+197C>A (n.735+197C>A)
c.743C>A (p.Ser248Ter)
c.617C>A (p.Ser206Ter)
c.980C>A (p.Ser327Ter)
c.893C>A (p.Ser298Ter)
c.885+197C>A (n.885+197C>A)
c.896C>A (p.Ser299Ter)
gnomAD v4
6g.25812899A>CCA363157974SLC17A1c.829T>G (p.Ser277Ala)
c.*80T>G (n.*80T>G)
c.735+196T>G (n.735+196T>G)
c.742T>G (p.Ser248Ala)
c.616T>G (p.Ser206Ala)
c.979T>G (p.Ser327Ala)
c.892T>G (p.Ser298Ala)
c.885+196T>G (n.885+196T>G)
c.895T>G (p.Ser299Ala)
6g.25812899A>GCA363157976SLC17A1c.829T>C (p.Ser277Pro)
c.*80T>C (n.*80T>C)
c.735+196T>C (n.735+196T>C)
c.742T>C (p.Ser248Pro)
c.616T>C (p.Ser206Pro)
c.979T>C (p.Ser327Pro)
c.892T>C (p.Ser298Pro)
c.885+196T>C (n.885+196T>C)
c.895T>C (p.Ser299Pro)
6g.25812899A>TCA363157977SLC17A1c.829T>A (p.Ser277Thr)
c.*80T>A (n.*80T>A)
c.735+196T>A (n.735+196T>A)
c.742T>A (p.Ser248Thr)
c.616T>A (p.Ser206Thr)
c.979T>A (p.Ser327Thr)
c.892T>A (p.Ser298Thr)
c.885+196T>A (n.885+196T>A)
c.895T>A (p.Ser299Thr)
6g.25812900C>ACA363157981SLC17A1c.828G>T (p.Trp276Cys)
c.*79G>T (n.*79G>T)
c.735+195G>T (n.735+195G>T)
c.741G>T (p.Trp247Cys)
c.615G>T (p.Trp205Cys)
c.978G>T (p.Trp326Cys)
c.891G>T (p.Trp297Cys)
c.885+195G>T (n.885+195G>T)
c.894G>T (p.Trp298Cys)
gnomAD v4
6g.25812900C=CA1616765620SLC17A1c.828G= (p.Trp276=)
c.*79G= (n.*79G=)
c.735+195G= (n.735+195G=)
c.741G= (p.Trp247=)
c.615G= (p.Trp205=)
c.978G= (p.Trp326=)
c.891G= (p.Trp297=)
c.885+195G= (n.885+195G=)
c.894G= (p.Trp298=)
6g.25812900C>GCA363157978SLC17A1c.828G>C (p.Trp276Cys)
c.*79G>C (n.*79G>C)
c.735+195G>C (n.735+195G>C)
c.741G>C (p.Trp247Cys)
c.615G>C (p.Trp205Cys)
c.978G>C (p.Trp326Cys)
c.891G>C (p.Trp297Cys)
c.885+195G>C (n.885+195G>C)
c.894G>C (p.Trp298Cys)
6g.25812900C>TCA363157979SLC17A1c.828G>A (p.Trp276Ter)
c.*79G>A (n.*79G>A)
c.735+195G>A (n.735+195G>A)
c.741G>A (p.Trp247Ter)
c.615G>A (p.Trp205Ter)
c.978G>A (p.Trp326Ter)
c.891G>A (p.Trp297Ter)
c.885+195G>A (n.885+195G>A)
c.894G>A (p.Trp298Ter)
dbSNP gnomAD v2 gnomAD v4
6g.25812901C>ACA363157983SLC17A1c.827G>T (p.Trp276Leu)
c.*78G>T (n.*78G>T)
c.735+194G>T (n.735+194G>T)
c.740G>T (p.Trp247Leu)
c.614G>T (p.Trp205Leu)
c.977G>T (p.Trp326Leu)
c.890G>T (p.Trp297Leu)
c.885+194G>T (n.885+194G>T)
c.893G>T (p.Trp298Leu)
6g.25812901C=CA1616765621SLC17A1c.827G= (p.Trp276=)
c.*78G= (n.*78G=)
c.735+194G= (n.735+194G=)
c.740G= (p.Trp247=)
c.614G= (p.Trp205=)
c.977G= (p.Trp326=)
c.890G= (p.Trp297=)
c.885+194G= (n.885+194G=)
c.893G= (p.Trp298=)
6g.25812901C>GCA363157984SLC17A1c.827G>C (p.Trp276Ser)
c.*78G>C (n.*78G>C)
c.735+194G>C (n.735+194G>C)
c.740G>C (p.Trp247Ser)
c.614G>C (p.Trp205Ser)
c.977G>C (p.Trp326Ser)
c.890G>C (p.Trp297Ser)
c.885+194G>C (n.885+194G>C)
c.893G>C (p.Trp298Ser)
6g.25812901C>TCA3662590SLC17A1c.827G>A (p.Trp276Ter)
c.*78G>A (n.*78G>A)
c.735+194G>A (n.735+194G>A)
c.740G>A (p.Trp247Ter)
c.614G>A (p.Trp205Ter)
c.977G>A (p.Trp326Ter)
c.890G>A (p.Trp297Ter)
c.885+194G>A (n.885+194G>A)
c.893G>A (p.Trp298Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812902A>CCA363157990SLC17A1c.826T>G (p.Trp276Gly)
c.*77T>G (n.*77T>G)
c.735+193T>G (n.735+193T>G)
c.739T>G (p.Trp247Gly)
c.613T>G (p.Trp205Gly)
c.976T>G (p.Trp326Gly)
c.889T>G (p.Trp297Gly)
c.885+193T>G (n.885+193T>G)
c.892T>G (p.Trp298Gly)
6g.25812902A>GCA363157992SLC17A1c.826T>C (p.Trp276Arg)
c.*77T>C (n.*77T>C)
c.735+193T>C (n.735+193T>C)
c.739T>C (p.Trp247Arg)
c.613T>C (p.Trp205Arg)
c.976T>C (p.Trp326Arg)
c.889T>C (p.Trp297Arg)
c.885+193T>C (n.885+193T>C)
c.892T>C (p.Trp298Arg)
6g.25812902A>TCA363157993SLC17A1c.826T>A (p.Trp276Arg)
c.*77T>A (n.*77T>A)
c.735+193T>A (n.735+193T>A)
c.739T>A (p.Trp247Arg)
c.613T>A (p.Trp205Arg)
c.976T>A (p.Trp326Arg)
c.889T>A (p.Trp297Arg)
c.885+193T>A (n.885+193T>A)
c.892T>A (p.Trp298Arg)
6g.25812903G>ACA448980355SLC17A1c.825C>T (p.Phe275=)
c.*76C>T (n.*76C>T)
c.735+192C>T (n.735+192C>T)
c.738C>T (p.Phe246=)
c.612C>T (p.Phe204=)
c.975C>T (p.Phe325=)
c.888C>T (p.Phe296=)
c.885+192C>T (n.885+192C>T)
c.891C>T (p.Phe297=)
COSMIC
6g.25812903G>CCA363157995SLC17A1c.825C>G (p.Phe275Leu)
c.*76C>G (n.*76C>G)
c.735+192C>G (n.735+192C>G)
c.738C>G (p.Phe246Leu)
c.612C>G (p.Phe204Leu)
c.975C>G (p.Phe325Leu)
c.888C>G (p.Phe296Leu)
c.885+192C>G (n.885+192C>G)
c.891C>G (p.Phe297Leu)
6g.25812903G>TCA363157997SLC17A1c.825C>A (p.Phe275Leu)
c.*76C>A (n.*76C>A)
c.735+192C>A (n.735+192C>A)
c.738C>A (p.Phe246Leu)
c.612C>A (p.Phe204Leu)
c.975C>A (p.Phe325Leu)
c.888C>A (p.Phe296Leu)
c.885+192C>A (n.885+192C>A)
c.891C>A (p.Phe297Leu)
6g.25812904A>CCA363157999SLC17A1c.824T>G (p.Phe275Cys)
c.*75T>G (n.*75T>G)
c.735+191T>G (n.735+191T>G)
c.737T>G (p.Phe246Cys)
c.611T>G (p.Phe204Cys)
c.974T>G (p.Phe325Cys)
c.887T>G (p.Phe296Cys)
c.885+191T>G (n.885+191T>G)
c.890T>G (p.Phe297Cys)
COSMIC
6g.25812904A>GCA363158000SLC17A1c.824T>C (p.Phe275Ser)
c.*75T>C (n.*75T>C)
c.735+191T>C (n.735+191T>C)
c.737T>C (p.Phe246Ser)
c.611T>C (p.Phe204Ser)
c.974T>C (p.Phe325Ser)
c.887T>C (p.Phe296Ser)
c.885+191T>C (n.885+191T>C)
c.890T>C (p.Phe297Ser)
6g.25812904A>TCA363158002SLC17A1c.824T>A (p.Phe275Tyr)
c.*75T>A (n.*75T>A)
c.735+191T>A (n.735+191T>A)
c.737T>A (p.Phe246Tyr)
c.611T>A (p.Phe204Tyr)
c.974T>A (p.Phe325Tyr)
c.887T>A (p.Phe296Tyr)
c.885+191T>A (n.885+191T>A)
c.890T>A (p.Phe297Tyr)
6g.25812905A>CCA363158005SLC17A1c.823T>G (p.Phe275Val)
c.*74T>G (n.*74T>G)
c.735+190T>G (n.735+190T>G)
c.736T>G (p.Phe246Val)
c.610T>G (p.Phe204Val)
c.973T>G (p.Phe325Val)
c.886T>G (p.Phe296Val)
c.885+190T>G (n.885+190T>G)
c.889T>G (p.Phe297Val)
6g.25812905A>GCA363158007SLC17A1c.823T>C (p.Phe275Leu)
c.*74T>C (n.*74T>C)
c.735+190T>C (n.735+190T>C)
c.736T>C (p.Phe246Leu)
c.610T>C (p.Phe204Leu)
c.973T>C (p.Phe325Leu)
c.886T>C (p.Phe296Leu)
c.885+190T>C (n.885+190T>C)
c.889T>C (p.Phe297Leu)
6g.25812905A>TCA363158004SLC17A1c.823T>A (p.Phe275Ile)
c.*74T>A (n.*74T>A)
c.735+190T>A (n.735+190T>A)
c.736T>A (p.Phe246Ile)
c.610T>A (p.Phe204Ile)
c.973T>A (p.Phe325Ile)
c.886T>A (p.Phe296Ile)
c.885+190T>A (n.885+190T>A)
c.889T>A (p.Phe297Ile)
6g.25812906A>CCA363158009SLC17A1c.822T>G (p.Phe274Leu)
c.*73T>G (n.*73T>G)
c.735+189T>G (n.735+189T>G)
c.735T>G (p.Phe245Leu)
c.609T>G (p.Phe203Leu)
c.972T>G (p.Phe324Leu)
c.885T>G (p.Phe295Leu)
c.885+189T>G (n.885+189T>G)
c.888T>G (p.Phe296Leu)
6g.25812906A>GCA448980356SLC17A1c.822T>C (p.Phe274=)
c.*73T>C (n.*73T>C)
c.735+189T>C (n.735+189T>C)
c.735T>C (p.Phe245=)
c.609T>C (p.Phe203=)
c.972T>C (p.Phe324=)
c.885T>C (p.Phe295=)
c.885+189T>C (n.885+189T>C)
c.888T>C (p.Phe296=)
6g.25812906A>TCA363158011SLC17A1c.822T>A (p.Phe274Leu)
c.*73T>A (n.*73T>A)
c.735+189T>A (n.735+189T>A)
c.735T>A (p.Phe245Leu)
c.609T>A (p.Phe203Leu)
c.972T>A (p.Phe324Leu)
c.885T>A (p.Phe295Leu)
c.885+189T>A (n.885+189T>A)
c.888T>A (p.Phe296Leu)
6g.25812907A>CCA363158012SLC17A1c.821T>G (p.Phe274Cys)
c.*72T>G (n.*72T>G)
c.735+188T>G (n.735+188T>G)
c.734T>G (p.Phe245Cys)
c.608T>G (p.Phe203Cys)
c.971T>G (p.Phe324Cys)
c.884T>G (p.Phe295Cys)
c.885+188T>G (n.885+188T>G)
c.887T>G (p.Phe296Cys)
6g.25812907A>GCA363158014SLC17A1c.821T>C (p.Phe274Ser)
c.*72T>C (n.*72T>C)
c.735+188T>C (n.735+188T>C)
c.734T>C (p.Phe245Ser)
c.608T>C (p.Phe203Ser)
c.971T>C (p.Phe324Ser)
c.884T>C (p.Phe295Ser)
c.885+188T>C (n.885+188T>C)
c.887T>C (p.Phe296Ser)
6g.25812907A>TCA363158016SLC17A1c.821T>A (p.Phe274Tyr)
c.*72T>A (n.*72T>A)
c.735+188T>A (n.735+188T>A)
c.734T>A (p.Phe245Tyr)
c.608T>A (p.Phe203Tyr)
c.971T>A (p.Phe324Tyr)
c.884T>A (p.Phe295Tyr)
c.885+188T>A (n.885+188T>A)
c.887T>A (p.Phe296Tyr)
6g.25812908A>CCA363158018SLC17A1c.820T>G (p.Phe274Val)
c.*71T>G (n.*71T>G)
c.735+187T>G (n.735+187T>G)
c.733T>G (p.Phe245Val)
c.607T>G (p.Phe203Val)
c.970T>G (p.Phe324Val)
c.883T>G (p.Phe295Val)
c.885+187T>G (n.885+187T>G)
c.886T>G (p.Phe296Val)
6g.25812908A>GCA363158019SLC17A1c.820T>C (p.Phe274Leu)
c.*71T>C (n.*71T>C)
c.735+187T>C (n.735+187T>C)
c.733T>C (p.Phe245Leu)
c.607T>C (p.Phe203Leu)
c.970T>C (p.Phe324Leu)
c.883T>C (p.Phe295Leu)
c.885+187T>C (n.885+187T>C)
c.886T>C (p.Phe296Leu)
6g.25812908A>TCA363158021SLC17A1c.820T>A (p.Phe274Ile)
c.*71T>A (n.*71T>A)
c.735+187T>A (n.735+187T>A)
c.733T>A (p.Phe245Ile)
c.607T>A (p.Phe203Ile)
c.970T>A (p.Phe324Ile)
c.883T>A (p.Phe295Ile)
c.885+187T>A (n.885+187T>A)
c.886T>A (p.Phe296Ile)
6g.25812909C>ACA448980357SLC17A1c.819G>T (p.Thr273=)
c.*70G>T (n.*70G>T)
c.735+186G>T (n.735+186G>T)
c.732G>T (p.Thr244=)
c.606G>T (p.Thr202=)
c.969G>T (p.Thr323=)
c.882G>T (p.Thr294=)
c.885+186G>T (n.885+186G>T)
c.885G>T (p.Thr295=)
gnomAD v4
6g.25812909C=CA1616765622SLC17A1c.819G= (p.Thr273=)
c.*70G= (n.*70G=)
c.735+186G= (n.735+186G=)
c.732G= (p.Thr244=)
c.606G= (p.Thr202=)
c.969G= (p.Thr323=)
c.882G= (p.Thr294=)
c.885+186G= (n.885+186G=)
c.885G= (p.Thr295=)
6g.25812909C>GCA448980358SLC17A1c.819G>C (p.Thr273=)
c.*70G>C (n.*70G>C)
c.735+186G>C (n.735+186G>C)
c.732G>C (p.Thr244=)
c.606G>C (p.Thr202=)
c.969G>C (p.Thr323=)
c.882G>C (p.Thr294=)
c.885+186G>C (n.885+186G>C)
c.885G>C (p.Thr295=)
6g.25812909C>TCA3662591SLC17A1c.819G>A (p.Thr273=)
c.*70G>A (n.*70G>A)
c.735+186G>A (n.735+186G>A)
c.732G>A (p.Thr244=)
c.606G>A (p.Thr202=)
c.969G>A (p.Thr323=)
c.882G>A (p.Thr294=)
c.885+186G>A (n.885+186G>A)
c.885G>A (p.Thr295=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.25812910G>ACA3662592SLC17A1c.818C>T (p.Thr273Met)
c.*69C>T (n.*69C>T)
c.735+185C>T (n.735+185C>T)
c.731C>T (p.Thr244Met)
c.605C>T (p.Thr202Met)
c.968C>T (p.Thr323Met)
c.881C>T (p.Thr294Met)
c.885+185C>T (n.885+185C>T)
c.884C>T (p.Thr295Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812910G>CCA363158024SLC17A1c.818C>G (p.Thr273Arg)
c.*69C>G (n.*69C>G)
c.735+185C>G (n.735+185C>G)
c.731C>G (p.Thr244Arg)
c.605C>G (p.Thr202Arg)
c.968C>G (p.Thr323Arg)
c.881C>G (p.Thr294Arg)
c.885+185C>G (n.885+185C>G)
c.884C>G (p.Thr295Arg)
6g.25812910G=CA1616765624SLC17A1c.818C= (p.Thr273=)
c.*69C= (n.*69C=)
c.735+185C= (n.735+185C=)
c.731C= (p.Thr244=)
c.605C= (p.Thr202=)
c.968C= (p.Thr323=)
c.881C= (p.Thr294=)
c.885+185C= (n.885+185C=)
c.884C= (p.Thr295=)
6g.25812910G>TCA363158026SLC17A1c.818C>A (p.Thr273Lys)
c.*69C>A (n.*69C>A)
c.735+185C>A (n.735+185C>A)
c.731C>A (p.Thr244Lys)
c.605C>A (p.Thr202Lys)
c.968C>A (p.Thr323Lys)
c.881C>A (p.Thr294Lys)
c.885+185C>A (n.885+185C>A)
c.884C>A (p.Thr295Lys)
6g.25812910_25812911delinsGTCA1616765623SLC17A1c.817_818delinsAC (p.Thr273=)
c.*68_*69delinsAC (n.*68_*69delinsAC)
c.735+184_735+185delinsAC (n.735+184_735+185delinsAC)
c.730_731delinsAC (p.Thr244=)
c.604_605delinsAC (p.Thr202=)
c.967_968delinsAC (p.Thr323=)
c.880_881delinsAC (p.Thr294=)
c.885+184_885+185delinsAC (n.885+184_885+185delinsAC)
c.883_884delinsAC (p.Thr295=)
6g.25812911delCA3662593SLC17A1c.817del (p.Thr273ArgfsTer9)
c.*68del (n.*68del)
c.735+184del (n.735+184del)
c.730del (p.Thr244ArgfsTer9)
c.604del (p.Thr202ArgfsTer9)
c.967del (p.Thr323ArgfsTer9)
c.880del (p.Thr294ArgfsTer9)
c.885+184del (n.885+184del)
c.883del (p.Thr295ArgfsTer9)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812911T>ACA363158029SLC17A1c.817A>T (p.Thr273Ser)
c.*68A>T (n.*68A>T)
c.735+184A>T (n.735+184A>T)
c.730A>T (p.Thr244Ser)
c.604A>T (p.Thr202Ser)
c.967A>T (p.Thr323Ser)
c.880A>T (p.Thr294Ser)
c.885+184A>T (n.885+184A>T)
c.883A>T (p.Thr295Ser)
6g.25812911T>CCA363158031SLC17A1c.817A>G (p.Thr273Ala)
c.*68A>G (n.*68A>G)
c.735+184A>G (n.735+184A>G)
c.730A>G (p.Thr244Ala)
c.604A>G (p.Thr202Ala)
c.967A>G (p.Thr323Ala)
c.880A>G (p.Thr294Ala)
c.885+184A>G (n.885+184A>G)
c.883A>G (p.Thr295Ala)
6g.25812911T>GCA363158028SLC17A1c.817A>C (p.Thr273Pro)
c.*68A>C (n.*68A>C)
c.735+184A>C (n.735+184A>C)
c.730A>C (p.Thr244Pro)
c.604A>C (p.Thr202Pro)
c.967A>C (p.Thr323Pro)
c.880A>C (p.Thr294Pro)
c.885+184A>C (n.885+184A>C)
c.883A>C (p.Thr295Pro)
6g.25812912A=CA1616765625SLC17A1c.816T= (p.Phe272=)
c.*67T= (n.*67T=)
c.735+183T= (n.735+183T=)
c.729T= (p.Phe243=)
c.603T= (p.Phe201=)
c.966T= (p.Phe322=)
c.879T= (p.Phe293=)
c.885+183T= (n.885+183T=)
c.882T= (p.Phe294=)
6g.25812912A>CCA363158033SLC17A1c.816T>G (p.Phe272Leu)
c.*67T>G (n.*67T>G)
c.735+183T>G (n.735+183T>G)
c.729T>G (p.Phe243Leu)
c.603T>G (p.Phe201Leu)
c.966T>G (p.Phe322Leu)
c.879T>G (p.Phe293Leu)
c.885+183T>G (n.885+183T>G)
c.882T>G (p.Phe294Leu)
6g.25812912A>GCA136229876SLC17A1c.816T>C (p.Phe272=)
c.*67T>C (n.*67T>C)
c.735+183T>C (n.735+183T>C)
c.729T>C (p.Phe243=)
c.603T>C (p.Phe201=)
c.966T>C (p.Phe322=)
c.879T>C (p.Phe293=)
c.885+183T>C (n.885+183T>C)
c.882T>C (p.Phe294=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.25812912A>TCA363158035SLC17A1c.816T>A (p.Phe272Leu)
c.*67T>A (n.*67T>A)
c.735+183T>A (n.735+183T>A)
c.729T>A (p.Phe243Leu)
c.603T>A (p.Phe201Leu)
c.966T>A (p.Phe322Leu)
c.879T>A (p.Phe293Leu)
c.885+183T>A (n.885+183T>A)
c.882T>A (p.Phe294Leu)
gnomAD v4
6g.25812913A>CCA363158037SLC17A1c.815T>G (p.Phe272Cys)
c.*66T>G (n.*66T>G)
c.735+182T>G (n.735+182T>G)
c.728T>G (p.Phe243Cys)
c.602T>G (p.Phe201Cys)
c.965T>G (p.Phe322Cys)
c.878T>G (p.Phe293Cys)
c.885+182T>G (n.885+182T>G)
c.881T>G (p.Phe294Cys)
6g.25812913A>GCA363158039SLC17A1c.815T>C (p.Phe272Ser)
c.*66T>C (n.*66T>C)
c.735+182T>C (n.735+182T>C)
c.728T>C (p.Phe243Ser)
c.602T>C (p.Phe201Ser)
c.965T>C (p.Phe322Ser)
c.878T>C (p.Phe293Ser)
c.885+182T>C (n.885+182T>C)
c.881T>C (p.Phe294Ser)
6g.25812913A>TCA363158040SLC17A1c.815T>A (p.Phe272Tyr)
c.*66T>A (n.*66T>A)
c.735+182T>A (n.735+182T>A)
c.728T>A (p.Phe243Tyr)
c.602T>A (p.Phe201Tyr)
c.965T>A (p.Phe322Tyr)
c.878T>A (p.Phe293Tyr)
c.885+182T>A (n.885+182T>A)
c.881T>A (p.Phe294Tyr)
6g.25812914A>CCA363158045SLC17A1c.814T>G (p.Phe272Val)
c.*65T>G (n.*65T>G)
c.735+181T>G (n.735+181T>G)
c.727T>G (p.Phe243Val)
c.601T>G (p.Phe201Val)
c.964T>G (p.Phe322Val)
c.877T>G (p.Phe293Val)
c.885+181T>G (n.885+181T>G)
c.880T>G (p.Phe294Val)
6g.25812914A>GCA363158041SLC17A1c.814T>C (p.Phe272Leu)
c.*65T>C (n.*65T>C)
c.735+181T>C (n.735+181T>C)
c.727T>C (p.Phe243Leu)
c.601T>C (p.Phe201Leu)
c.964T>C (p.Phe322Leu)
c.877T>C (p.Phe293Leu)
c.885+181T>C (n.885+181T>C)
c.880T>C (p.Phe294Leu)
6g.25812914A>TCA363158043SLC17A1c.814T>A (p.Phe272Ile)
c.*65T>A (n.*65T>A)
c.735+181T>A (n.735+181T>A)
c.727T>A (p.Phe243Ile)
c.601T>A (p.Phe201Ile)
c.964T>A (p.Phe322Ile)
c.877T>A (p.Phe293Ile)
c.885+181T>A (n.885+181T>A)
c.880T>A (p.Phe294Ile)
6g.25812915A=CA1616765626SLC17A1c.813T= (p.Ser271=)
c.*64T= (n.*64T=)
c.735+180T= (n.735+180T=)
c.726T= (p.Ser242=)
c.600T= (p.Ser200=)
c.963T= (p.Ser321=)
c.876T= (p.Ser292=)
c.885+180T= (n.885+180T=)
c.879T= (p.Ser293=)
6g.25812915A>CCA363158047SLC17A1c.813T>G (p.Ser271Arg)
c.*64T>G (n.*64T>G)
c.735+180T>G (n.735+180T>G)
c.726T>G (p.Ser242Arg)
c.600T>G (p.Ser200Arg)
c.963T>G (p.Ser321Arg)
c.876T>G (p.Ser292Arg)
c.885+180T>G (n.885+180T>G)
c.879T>G (p.Ser293Arg)
6g.25812915A>GCA448980359SLC17A1c.813T>C (p.Ser271=)
c.*64T>C (n.*64T>C)
c.735+180T>C (n.735+180T>C)
c.726T>C (p.Ser242=)
c.600T>C (p.Ser200=)
c.963T>C (p.Ser321=)
c.876T>C (p.Ser292=)
c.885+180T>C (n.885+180T>C)
c.879T>C (p.Ser293=)
dbSNP gnomAD v2 gnomAD v4
6g.25812915A>TCA363158048SLC17A1c.813T>A (p.Ser271Arg)
c.*64T>A (n.*64T>A)
c.735+180T>A (n.735+180T>A)
c.726T>A (p.Ser242Arg)
c.600T>A (p.Ser200Arg)
c.963T>A (p.Ser321Arg)
c.876T>A (p.Ser292Arg)
c.885+180T>A (n.885+180T>A)
c.879T>A (p.Ser293Arg)
6g.25812916C>ACA363158049SLC17A1c.812G>T (p.Ser271Ile)
c.*63G>T (n.*63G>T)
c.735+179G>T (n.735+179G>T)
c.725G>T (p.Ser242Ile)
c.599G>T (p.Ser200Ile)
c.962G>T (p.Ser321Ile)
c.875G>T (p.Ser292Ile)
c.885+179G>T (n.885+179G>T)
c.878G>T (p.Ser293Ile)
6g.25812916C>GCA363158050SLC17A1c.812G>C (p.Ser271Thr)
c.*63G>C (n.*63G>C)
c.735+179G>C (n.735+179G>C)
c.725G>C (p.Ser242Thr)
c.599G>C (p.Ser200Thr)
c.962G>C (p.Ser321Thr)
c.875G>C (p.Ser292Thr)
c.885+179G>C (n.885+179G>C)
c.878G>C (p.Ser293Thr)
6g.25812916C>TCA363158051SLC17A1c.812G>A (p.Ser271Asn)
c.*63G>A (n.*63G>A)
c.735+179G>A (n.735+179G>A)
c.725G>A (p.Ser242Asn)
c.599G>A (p.Ser200Asn)
c.962G>A (p.Ser321Asn)
c.875G>A (p.Ser292Asn)
c.885+179G>A (n.885+179G>A)
c.878G>A (p.Ser293Asn)
6g.25812917delCA2677592041SLC17A1c.811del (p.Ser271ValfsTer11)
c.*62del (n.*62del)
c.735+178del (n.735+178del)
c.724del (p.Ser242ValfsTer11)
c.598del (p.Ser200ValfsTer11)
c.961del (p.Ser321ValfsTer11)
c.874del (p.Ser292ValfsTer11)
c.885+178del (n.885+178del)
c.877del (p.Ser293ValfsTer11)
gnomAD v4
6g.25812917T>ACA363158053SLC17A1c.811A>T (p.Ser271Cys)
c.*62A>T (n.*62A>T)
c.735+178A>T (n.735+178A>T)
c.724A>T (p.Ser242Cys)
c.598A>T (p.Ser200Cys)
c.961A>T (p.Ser321Cys)
c.874A>T (p.Ser292Cys)
c.885+178A>T (n.885+178A>T)
c.877A>T (p.Ser293Cys)
dbSNP
6g.25812917T>CCA363158056SLC17A1c.811A>G (p.Ser271Gly)
c.*62A>G (n.*62A>G)
c.735+178A>G (n.735+178A>G)
c.724A>G (p.Ser242Gly)
c.598A>G (p.Ser200Gly)
c.961A>G (p.Ser321Gly)
c.874A>G (p.Ser292Gly)
c.885+178A>G (n.885+178A>G)
c.877A>G (p.Ser293Gly)
dbSNP
6g.25812917T>GCA363158055SLC17A1c.811A>C (p.Ser271Arg)
c.*62A>C (n.*62A>C)
c.735+178A>C (n.735+178A>C)
c.724A>C (p.Ser242Arg)
c.598A>C (p.Ser200Arg)
c.961A>C (p.Ser321Arg)
c.874A>C (p.Ser292Arg)
c.885+178A>C (n.885+178A>C)
c.877A>C (p.Ser293Arg)
gnomAD v4
6g.25812917T=CA1616765627SLC17A1c.811A= (p.Ser271=)
c.*62A= (n.*62A=)
c.735+178A= (n.735+178A=)
c.724A= (p.Ser242=)
c.598A= (p.Ser200=)
c.961A= (p.Ser321=)
c.874A= (p.Ser292=)
c.885+178A= (n.885+178A=)
c.877A= (p.Ser293=)
6g.25812918A>CCA448980360SLC17A1c.810T>G (p.Gly270=)
c.*61T>G (n.*61T>G)
c.735+177T>G (n.735+177T>G)
c.723T>G (p.Gly241=)
c.597T>G (p.Gly199=)
c.960T>G (p.Gly320=)
c.873T>G (p.Gly291=)
c.885+177T>G (n.885+177T>G)
c.876T>G (p.Gly292=)
6g.25812918A>GCA448980361SLC17A1c.810T>C (p.Gly270=)
c.*61T>C (n.*61T>C)
c.735+177T>C (n.735+177T>C)
c.723T>C (p.Gly241=)
c.597T>C (p.Gly199=)
c.960T>C (p.Gly320=)
c.873T>C (p.Gly291=)
c.885+177T>C (n.885+177T>C)
c.876T>C (p.Gly292=)
6g.25812918A>TCA448980362SLC17A1c.810T>A (p.Gly270=)
c.*61T>A (n.*61T>A)
c.735+177T>A (n.735+177T>A)
c.723T>A (p.Gly241=)
c.597T>A (p.Gly199=)
c.960T>A (p.Gly320=)
c.873T>A (p.Gly291=)
c.885+177T>A (n.885+177T>A)
c.876T>A (p.Gly292=)
6g.25812919C>ACA363158058SLC17A1c.809G>T (p.Gly270Val)
c.*60G>T (n.*60G>T)
c.735+176G>T (n.735+176G>T)
c.722G>T (p.Gly241Val)
c.596G>T (p.Gly199Val)
c.959G>T (p.Gly320Val)
c.872G>T (p.Gly291Val)
c.885+176G>T (n.885+176G>T)
c.875G>T (p.Gly292Val)
gnomAD v4
6g.25812919C>GCA363158062SLC17A1c.809G>C (p.Gly270Ala)
c.*60G>C (n.*60G>C)
c.735+176G>C (n.735+176G>C)
c.722G>C (p.Gly241Ala)
c.596G>C (p.Gly199Ala)
c.959G>C (p.Gly320Ala)
c.872G>C (p.Gly291Ala)
c.885+176G>C (n.885+176G>C)
c.875G>C (p.Gly292Ala)
6g.25812919C>TCA363158060SLC17A1c.809G>A (p.Gly270Asp)
c.*60G>A (n.*60G>A)
c.735+176G>A (n.735+176G>A)
c.722G>A (p.Gly241Asp)
c.596G>A (p.Gly199Asp)
c.959G>A (p.Gly320Asp)
c.872G>A (p.Gly291Asp)
c.885+176G>A (n.885+176G>A)
c.875G>A (p.Gly292Asp)
6g.25812920C>ACA363158063SLC17A1c.808G>T (p.Gly270Cys)
c.*59G>T (n.*59G>T)
c.735+175G>T (n.735+175G>T)
c.721G>T (p.Gly241Cys)
c.595G>T (p.Gly199Cys)
c.958G>T (p.Gly320Cys)
c.871G>T (p.Gly291Cys)
c.885+175G>T (n.885+175G>T)
c.874G>T (p.Gly292Cys)
6g.25812920C=CA1616765628SLC17A1c.808G= (p.Gly270=)
c.*59G= (n.*59G=)
c.735+175G= (n.735+175G=)
c.721G= (p.Gly241=)
c.595G= (p.Gly199=)
c.958G= (p.Gly320=)
c.871G= (p.Gly291=)
c.885+175G= (n.885+175G=)
c.874G= (p.Gly292=)
6g.25812920C>GCA363158065SLC17A1c.808G>C (p.Gly270Arg)
c.*59G>C (n.*59G>C)
c.735+175G>C (n.735+175G>C)
c.721G>C (p.Gly241Arg)
c.595G>C (p.Gly199Arg)
c.958G>C (p.Gly320Arg)
c.871G>C (p.Gly291Arg)
c.885+175G>C (n.885+175G>C)
c.874G>C (p.Gly292Arg)
6g.25812920C>TCA3662594SLC17A1c.808G>A (p.Gly270Ser)
c.*59G>A (n.*59G>A)
c.735+175G>A (n.735+175G>A)
c.721G>A (p.Gly241Ser)
c.595G>A (p.Gly199Ser)
c.958G>A (p.Gly320Ser)
c.871G>A (p.Gly291Ser)
c.885+175G>A (n.885+175G>A)
c.874G>A (p.Gly292Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812921A=CA1616765629SLC17A1c.807T= (p.Thr269=)
c.*58T= (n.*58T=)
c.735+174T= (n.735+174T=)
c.720T= (p.Thr240=)
c.594T= (p.Thr198=)
c.957T= (p.Thr319=)
c.870T= (p.Thr290=)
c.885+174T= (n.885+174T=)
c.873T= (p.Thr291=)
6g.25812921A>CCA3662595SLC17A1c.807T>G (p.Thr269=)
c.*58T>G (n.*58T>G)
c.735+174T>G (n.735+174T>G)
c.720T>G (p.Thr240=)
c.594T>G (p.Thr198=)
c.957T>G (p.Thr319=)
c.870T>G (p.Thr290=)
c.885+174T>G (n.885+174T>G)
c.873T>G (p.Thr291=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812921A>GCA448980363SLC17A1c.807T>C (p.Thr269=)
c.*58T>C (n.*58T>C)
c.735+174T>C (n.735+174T>C)
c.720T>C (p.Thr240=)
c.594T>C (p.Thr198=)
c.957T>C (p.Thr319=)
c.870T>C (p.Thr290=)
c.885+174T>C (n.885+174T>C)
c.873T>C (p.Thr291=)
6g.25812921A>TCA448980364SLC17A1c.807T>A (p.Thr269=)
c.*58T>A (n.*58T>A)
c.735+174T>A (n.735+174T>A)
c.720T>A (p.Thr240=)
c.594T>A (p.Thr198=)
c.957T>A (p.Thr319=)
c.870T>A (p.Thr290=)
c.885+174T>A (n.885+174T>A)
c.873T>A (p.Thr291=)
6g.25812922G>ACA3662596SLC17A1c.806C>T (p.Thr269Ile)
c.*57C>T (n.*57C>T)
c.735+173C>T (n.735+173C>T)
c.719C>T (p.Thr240Ile)
c.593C>T (p.Thr198Ile)
c.956C>T (p.Thr319Ile)
c.869C>T (p.Thr290Ile)
c.885+173C>T (n.885+173C>T)
c.872C>T (p.Thr291Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812922G>CCA363158068SLC17A1c.806C>G (p.Thr269Ser)
c.*57C>G (n.*57C>G)
c.735+173C>G (n.735+173C>G)
c.719C>G (p.Thr240Ser)
c.593C>G (p.Thr198Ser)
c.956C>G (p.Thr319Ser)
c.869C>G (p.Thr290Ser)
c.885+173C>G (n.885+173C>G)
c.872C>G (p.Thr291Ser)
dbSNP
6g.25812922G=CA1616765630SLC17A1c.806C= (p.Thr269=)
c.*57C= (n.*57C=)
c.735+173C= (n.735+173C=)
c.719C= (p.Thr240=)
c.593C= (p.Thr198=)
c.956C= (p.Thr319=)
c.869C= (p.Thr290=)
c.885+173C= (n.885+173C=)
c.872C= (p.Thr291=)
6g.25812922G>TCA363158069SLC17A1c.806C>A (p.Thr269Asn)
c.*57C>A (n.*57C>A)
c.735+173C>A (n.735+173C>A)
c.719C>A (p.Thr240Asn)
c.593C>A (p.Thr198Asn)
c.956C>A (p.Thr319Asn)
c.869C>A (p.Thr290Asn)
c.885+173C>A (n.885+173C>A)
c.872C>A (p.Thr291Asn)
6g.25812923T>ACA363158070SLC17A1c.805A>T (p.Thr269Ser)
c.*56A>T (n.*56A>T)
c.735+172A>T (n.735+172A>T)
c.718A>T (p.Thr240Ser)
c.592A>T (p.Thr198Ser)
c.955A>T (p.Thr319Ser)
c.868A>T (p.Thr290Ser)
c.885+172A>T (n.885+172A>T)
c.871A>T (p.Thr291Ser)
6g.25812923T>CCA363158071SLC17A1c.805A>G (p.Thr269Ala)
c.*56A>G (n.*56A>G)
c.735+172A>G (n.735+172A>G)
c.718A>G (p.Thr240Ala)
c.592A>G (p.Thr198Ala)
c.955A>G (p.Thr319Ala)
c.868A>G (p.Thr290Ala)
c.885+172A>G (n.885+172A>G)
c.871A>G (p.Thr291Ala)
gnomAD v4 COSMIC
6g.25812923T>GCA363158072SLC17A1c.805A>C (p.Thr269Pro)
c.*56A>C (n.*56A>C)
c.735+172A>C (n.735+172A>C)
c.718A>C (p.Thr240Pro)
c.592A>C (p.Thr198Pro)
c.955A>C (p.Thr319Pro)
c.868A>C (p.Thr290Pro)
c.885+172A>C (n.885+172A>C)
c.871A>C (p.Thr291Pro)
6g.25812924G>ACA448980365SLC17A1c.804C>T (p.Ser268=)
c.*55C>T (n.*55C>T)
c.735+171C>T (n.735+171C>T)
c.717C>T (p.Ser239=)
c.591C>T (p.Ser197=)
c.954C>T (p.Ser318=)
c.867C>T (p.Ser289=)
c.885+171C>T (n.885+171C>T)
c.870C>T (p.Ser290=)
6g.25812924G>CCA448980366SLC17A1c.804C>G (p.Ser268=)
c.*55C>G (n.*55C>G)
c.735+171C>G (n.735+171C>G)
c.717C>G (p.Ser239=)
c.591C>G (p.Ser197=)
c.954C>G (p.Ser318=)
c.867C>G (p.Ser289=)
c.885+171C>G (n.885+171C>G)
c.870C>G (p.Ser290=)
6g.25812924G>TCA448980367SLC17A1c.804C>A (p.Ser268=)
c.*55C>A (n.*55C>A)
c.735+171C>A (n.735+171C>A)
c.717C>A (p.Ser239=)
c.591C>A (p.Ser197=)
c.954C>A (p.Ser318=)
c.867C>A (p.Ser289=)
c.885+171C>A (n.885+171C>A)
c.870C>A (p.Ser290=)
6g.25812925G>ACA363158073SLC17A1c.803C>T (p.Ser268Phe)
c.*54C>T (n.*54C>T)
c.735+170C>T (n.735+170C>T)
c.716C>T (p.Ser239Phe)
c.590C>T (p.Ser197Phe)
c.953C>T (p.Ser318Phe)
c.866C>T (p.Ser289Phe)
c.885+170C>T (n.885+170C>T)
c.869C>T (p.Ser290Phe)
COSMIC
6g.25812925G>CCA363158074SLC17A1c.803C>G (p.Ser268Cys)
c.*54C>G (n.*54C>G)
c.735+170C>G (n.735+170C>G)
c.716C>G (p.Ser239Cys)
c.590C>G (p.Ser197Cys)
c.953C>G (p.Ser318Cys)
c.866C>G (p.Ser289Cys)
c.885+170C>G (n.885+170C>G)
c.869C>G (p.Ser290Cys)
6g.25812925G>TCA363158075SLC17A1c.803C>A (p.Ser268Tyr)
c.*54C>A (n.*54C>A)
c.735+170C>A (n.735+170C>A)
c.716C>A (p.Ser239Tyr)
c.590C>A (p.Ser197Tyr)
c.953C>A (p.Ser318Tyr)
c.866C>A (p.Ser289Tyr)
c.885+170C>A (n.885+170C>A)
c.869C>A (p.Ser290Tyr)
gnomAD v4
6g.25812926A=CA1616765631SLC17A1c.802T= (p.Ser268=)
c.*53T= (n.*53T=)
c.735+169T= (n.735+169T=)
c.715T= (p.Ser239=)
c.589T= (p.Ser197=)
c.952T= (p.Ser318=)
c.865T= (p.Ser289=)
c.885+169T= (n.885+169T=)
c.868T= (p.Ser290=)
6g.25812926A>CCA3662597SLC17A1c.802T>G (p.Ser268Ala)
c.*53T>G (n.*53T>G)
c.735+169T>G (n.735+169T>G)
c.715T>G (p.Ser239Ala)
c.589T>G (p.Ser197Ala)
c.952T>G (p.Ser318Ala)
c.865T>G (p.Ser289Ala)
c.885+169T>G (n.885+169T>G)
c.868T>G (p.Ser290Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.25812926A>GCA363158077SLC17A1c.802T>C (p.Ser268Pro)
c.*53T>C (n.*53T>C)
c.735+169T>C (n.735+169T>C)
c.715T>C (p.Ser239Pro)
c.589T>C (p.Ser197Pro)
c.952T>C (p.Ser318Pro)
c.865T>C (p.Ser289Pro)
c.885+169T>C (n.885+169T>C)
c.868T>C (p.Ser290Pro)
gnomAD v4
6g.25812926A>TCA363158076SLC17A1c.802T>A (p.Ser268Thr)
c.*53T>A (n.*53T>A)
c.735+169T>A (n.735+169T>A)
c.715T>A (p.Ser239Thr)
c.589T>A (p.Ser197Thr)
c.952T>A (p.Ser318Thr)
c.865T>A (p.Ser289Thr)
c.885+169T>A (n.885+169T>A)
c.868T>A (p.Ser290Thr)
6g.25812927A>CCA363158078SLC17A1c.801T>G (p.Ile267Met)
c.*52T>G (n.*52T>G)
c.735+168T>G (n.735+168T>G)
c.714T>G (p.Ile238Met)
c.588T>G (p.Ile196Met)
c.951T>G (p.Ile317Met)
c.864T>G (p.Ile288Met)
c.885+168T>G (n.885+168T>G)
c.867T>G (p.Ile289Met)
6g.25812927A>GCA448980368SLC17A1c.801T>C (p.Ile267=)
c.*52T>C (n.*52T>C)
c.735+168T>C (n.735+168T>C)
c.714T>C (p.Ile238=)
c.588T>C (p.Ile196=)
c.951T>C (p.Ile317=)
c.864T>C (p.Ile288=)
c.885+168T>C (n.885+168T>C)
c.867T>C (p.Ile289=)
6g.25812927A>TCA448980369SLC17A1c.801T>A (p.Ile267=)
c.*52T>A (n.*52T>A)
c.735+168T>A (n.735+168T>A)
c.714T>A (p.Ile238=)
c.588T>A (p.Ile196=)
c.951T>A (p.Ile317=)
c.864T>A (p.Ile288=)
c.885+168T>A (n.885+168T>A)
c.867T>A (p.Ile289=)
6g.25812928A=CA1616765632SLC17A1c.800T= (p.Ile267=)
c.*51T= (n.*51T=)
c.735+167T= (n.735+167T=)
c.713T= (p.Ile238=)
c.587T= (p.Ile196=)
c.950T= (p.Ile317=)
c.863T= (p.Ile288=)
c.885+167T= (n.885+167T=)
c.866T= (p.Ile289=)
6g.25812928A>CCA363158079SLC17A1c.800T>G (p.Ile267Ser)
c.*51T>G (n.*51T>G)
c.735+167T>G (n.735+167T>G)
c.713T>G (p.Ile238Ser)
c.587T>G (p.Ile196Ser)
c.950T>G (p.Ile317Ser)
c.863T>G (p.Ile288Ser)
c.885+167T>G (n.885+167T>G)
c.866T>G (p.Ile289Ser)
6g.25812928A>GCA363158080SLC17A1c.800T>C (p.Ile267Thr)
c.*51T>C (n.*51T>C)
c.735+167T>C (n.735+167T>C)
c.713T>C (p.Ile238Thr)
c.587T>C (p.Ile196Thr)
c.950T>C (p.Ile317Thr)
c.863T>C (p.Ile288Thr)
c.885+167T>C (n.885+167T>C)
c.866T>C (p.Ile289Thr)
dbSNP gnomAD v2 gnomAD v4
6g.25812928A>TCA363158081SLC17A1c.800T>A (p.Ile267Asn)
c.*51T>A (n.*51T>A)
c.735+167T>A (n.735+167T>A)
c.713T>A (p.Ile238Asn)
c.587T>A (p.Ile196Asn)
c.950T>A (p.Ile317Asn)
c.863T>A (p.Ile288Asn)
c.885+167T>A (n.885+167T>A)
c.866T>A (p.Ile289Asn)
6g.25812929T>ACA363158082SLC17A1c.799A>T (p.Ile267Phe)
c.*50A>T (n.*50A>T)
c.735+166A>T (n.735+166A>T)
c.712A>T (p.Ile238Phe)
c.586A>T (p.Ile196Phe)
c.949A>T (p.Ile317Phe)
c.862A>T (p.Ile288Phe)
c.885+166A>T (n.885+166A>T)
c.865A>T (p.Ile289Phe)
6g.25812929T>CCA363158083SLC17A1c.799A>G (p.Ile267Val)
c.*50A>G (n.*50A>G)
c.735+166A>G (n.735+166A>G)
c.712A>G (p.Ile238Val)
c.586A>G (p.Ile196Val)
c.949A>G (p.Ile317Val)
c.862A>G (p.Ile288Val)
c.885+166A>G (n.885+166A>G)
c.865A>G (p.Ile289Val)
gnomAD v4
6g.25812929T>GCA363158084SLC17A1c.799A>C (p.Ile267Leu)
c.*50A>C (n.*50A>C)
c.735+166A>C (n.735+166A>C)
c.712A>C (p.Ile238Leu)
c.586A>C (p.Ile196Leu)
c.949A>C (p.Ile317Leu)
c.862A>C (p.Ile288Leu)
c.885+166A>C (n.885+166A>C)
c.865A>C (p.Ile289Leu)
6g.25812930A=CA1616765633SLC17A1c.798T= (p.Ala266=)
c.*49T= (n.*49T=)
c.735+165T= (n.735+165T=)
c.711T= (p.Ala237=)
c.585T= (p.Ala195=)
c.948T= (p.Ala316=)
c.861T= (p.Ala287=)
c.885+165T= (n.885+165T=)
c.864T= (p.Ala288=)
6g.25812930A>CCA448980370SLC17A1c.798T>G (p.Ala266=)
c.*49T>G (n.*49T>G)
c.735+165T>G (n.735+165T>G)
c.711T>G (p.Ala237=)
c.585T>G (p.Ala195=)
c.948T>G (p.Ala316=)
c.861T>G (p.Ala287=)
c.885+165T>G (n.885+165T>G)
c.864T>G (p.Ala288=)
6g.25812930A>GCA3662598SLC17A1c.798T>C (p.Ala266=)
c.*49T>C (n.*49T>C)
c.735+165T>C (n.735+165T>C)
c.711T>C (p.Ala237=)
c.585T>C (p.Ala195=)
c.948T>C (p.Ala316=)
c.861T>C (p.Ala287=)
c.885+165T>C (n.885+165T>C)
c.864T>C (p.Ala288=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.25812930A>TCA448980371SLC17A1c.798T>A (p.Ala266=)
c.*49T>A (n.*49T>A)
c.735+165T>A (n.735+165T>A)
c.711T>A (p.Ala237=)
c.585T>A (p.Ala195=)
c.948T>A (p.Ala316=)
c.861T>A (p.Ala287=)
c.885+165T>A (n.885+165T>A)
c.864T>A (p.Ala288=)
6g.25812931G>ACA363158085SLC17A1c.797C>T (p.Ala266Val)
c.*48C>T (n.*48C>T)
c.735+164C>T (n.735+164C>T)
c.710C>T (p.Ala237Val)
c.584C>T (p.Ala195Val)
c.947C>T (p.Ala316Val)
c.860C>T (p.Ala287Val)
c.885+164C>T (n.885+164C>T)
c.863C>T (p.Ala288Val)
6g.25812931G>CCA363158086SLC17A1c.797C>G (p.Ala266Gly)
c.*48C>G (n.*48C>G)
c.735+164C>G (n.735+164C>G)
c.710C>G (p.Ala237Gly)
c.584C>G (p.Ala195Gly)
c.947C>G (p.Ala316Gly)
c.860C>G (p.Ala287Gly)
c.885+164C>G (n.885+164C>G)
c.863C>G (p.Ala288Gly)
6g.25812931G>TCA363158087SLC17A1c.797C>A (p.Ala266Asp)
c.*48C>A (n.*48C>A)
c.735+164C>A (n.735+164C>A)
c.710C>A (p.Ala237Asp)
c.584C>A (p.Ala195Asp)
c.947C>A (p.Ala316Asp)
c.860C>A (p.Ala287Asp)
c.885+164C>A (n.885+164C>A)
c.863C>A (p.Ala288Asp)
COSMIC
6g.25812932C>ACA363158089SLC17A1c.796G>T (p.Ala266Ser)
c.*47G>T (n.*47G>T)
c.735+163G>T (n.735+163G>T)
c.709G>T (p.Ala237Ser)
c.583G>T (p.Ala195Ser)
c.946G>T (p.Ala316Ser)
c.859G>T (p.Ala287Ser)
c.885+163G>T (n.885+163G>T)
c.862G>T (p.Ala288Ser)
6g.25812932C=CA1616765634SLC17A1c.796G= (p.Ala266=)
c.*47G= (n.*47G=)
c.735+163G= (n.735+163G=)
c.709G= (p.Ala237=)
c.583G= (p.Ala195=)
c.946G= (p.Ala316=)
c.859G= (p.Ala287=)
c.885+163G= (n.885+163G=)
c.862G= (p.Ala288=)
6g.25812932C>GCA363158090SLC17A1c.796G>C (p.Ala266Pro)
c.*47G>C (n.*47G>C)
c.735+163G>C (n.735+163G>C)
c.709G>C (p.Ala237Pro)
c.583G>C (p.Ala195Pro)
c.946G>C (p.Ala316Pro)
c.859G>C (p.Ala287Pro)
c.885+163G>C (n.885+163G>C)
c.862G>C (p.Ala288Pro)
6g.25812932C>TCA363158088SLC17A1c.796G>A (p.Ala266Thr)
c.*47G>A (n.*47G>A)
c.735+163G>A (n.735+163G>A)
c.709G>A (p.Ala237Thr)
c.583G>A (p.Ala195Thr)
c.946G>A (p.Ala316Thr)
c.859G>A (p.Ala287Thr)
c.885+163G>A (n.885+163G>A)
c.862G>A (p.Ala288Thr)
dbSNP
6g.25812933C>ACA363158091SLC17A1c.795G>T (p.Trp265Cys)
c.*46G>T (n.*46G>T)
c.735+162G>T (n.735+162G>T)
c.708G>T (p.Trp236Cys)
c.582G>T (p.Trp194Cys)
c.945G>T (p.Trp315Cys)
c.858G>T (p.Trp286Cys)
c.885+162G>T (n.885+162G>T)
c.861G>T (p.Trp287Cys)
6g.25812933C>GCA363158092SLC17A1c.795G>C (p.Trp265Cys)
c.*46G>C (n.*46G>C)
c.735+162G>C (n.735+162G>C)
c.708G>C (p.Trp236Cys)
c.582G>C (p.Trp194Cys)
c.945G>C (p.Trp315Cys)
c.858G>C (p.Trp286Cys)
c.885+162G>C (n.885+162G>C)
c.861G>C (p.Trp287Cys)
6g.25812933C>TCA363158093SLC17A1c.795G>A (p.Trp265Ter)
c.*46G>A (n.*46G>A)
c.735+162G>A (n.735+162G>A)
c.708G>A (p.Trp236Ter)
c.582G>A (p.Trp194Ter)
c.945G>A (p.Trp315Ter)
c.858G>A (p.Trp286Ter)
c.885+162G>A (n.885+162G>A)
c.861G>A (p.Trp287Ter)
6g.25812934C>ACA363158094SLC17A1c.794G>T (p.Trp265Leu)
c.*45G>T (n.*45G>T)
c.735+161G>T (n.735+161G>T)
c.707G>T (p.Trp236Leu)
c.581G>T (p.Trp194Leu)
c.944G>T (p.Trp315Leu)
c.857G>T (p.Trp286Leu)
c.885+161G>T (n.885+161G>T)
c.860G>T (p.Trp287Leu)
6g.25812934C>GCA363158095SLC17A1c.794G>C (p.Trp265Ser)
c.*45G>C (n.*45G>C)
c.735+161G>C (n.735+161G>C)
c.707G>C (p.Trp236Ser)
c.581G>C (p.Trp194Ser)
c.944G>C (p.Trp315Ser)
c.857G>C (p.Trp286Ser)
c.885+161G>C (n.885+161G>C)
c.860G>C (p.Trp287Ser)
6g.25812934C>TCA363158096SLC17A1c.794G>A (p.Trp265Ter)
c.*45G>A (n.*45G>A)
c.735+161G>A (n.735+161G>A)
c.707G>A (p.Trp236Ter)
c.581G>A (p.Trp194Ter)
c.944G>A (p.Trp315Ter)
c.857G>A (p.Trp286Ter)
c.885+161G>A (n.885+161G>A)
c.860G>A (p.Trp287Ter)

Number of alleles fetched