Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.48905109T>ACA412895189SLC35A2c.800A>T (p.Tyr267Phe)
c.355-217A>T (n.355-217A>T)
c.427-217A>T (n.427-217A>T)
c.362A>T
c.884A>T (p.Tyr295Phe)
c.839A>T (p.Tyr280Phe)
c.424+1283A>T
c.617A>T (p.Tyr206Phe)
c.*694A>T (n.*694A>T)
Xg.48905109T>CCA357924SLC35A2c.800A>G (p.Tyr267Cys)
c.355-217A>G (n.355-217A>G)
c.427-217A>G (n.427-217A>G)
c.362A>G
c.884A>G (p.Tyr295Cys)
c.839A>G (p.Tyr280Cys)
c.424+1283A>G
c.617A>G (p.Tyr206Cys)
c.*694A>G (n.*694A>G)
 ClinVar dbSNP
Xg.48905109T>GCA412895190SLC35A2c.800A>C (p.Tyr267Ser)
c.355-217A>C (n.355-217A>C)
c.427-217A>C (n.427-217A>C)
c.362A>C
c.884A>C (p.Tyr295Ser)
c.839A>C (p.Tyr280Ser)
c.424+1283A>C
c.617A>C (p.Tyr206Ser)
c.*694A>C (n.*694A>C)
Xg.48905109T=CA2428428874SLC35A2c.800A= (p.Tyr267=)
c.355-217A= (n.355-217A=)
c.427-217A= (n.427-217A=)
c.362A=
c.884A= (p.Tyr295=)
c.839A= (p.Tyr280=)
c.424+1283A=
c.617A= (p.Tyr206=)
c.*694A= (n.*694A=)
Xg.48905110A>CCA412895191SLC35A2c.799T>G (p.Tyr267Asp)
c.355-218T>G (n.355-218T>G)
c.427-218T>G (n.427-218T>G)
c.361T>G
c.883T>G (p.Tyr295Asp)
c.838T>G (p.Tyr280Asp)
c.424+1282T>G
c.616T>G (p.Tyr206Asp)
c.*693T>G (n.*693T>G)
Xg.48905110A>GCA412895192SLC35A2c.799T>C (p.Tyr267His)
c.355-218T>C (n.355-218T>C)
c.427-218T>C (n.427-218T>C)
c.361T>C
c.883T>C (p.Tyr295His)
c.838T>C (p.Tyr280His)
c.424+1282T>C
c.616T>C (p.Tyr206His)
c.*693T>C (n.*693T>C)
Xg.48905110A>TCA412895193SLC35A2c.799T>A (p.Tyr267Asn)
c.355-218T>A (n.355-218T>A)
c.427-218T>A (n.427-218T>A)
c.361T>A
c.883T>A (p.Tyr295Asn)
c.838T>A (p.Tyr280Asn)
c.424+1282T>A
c.616T>A (p.Tyr206Asn)
c.*693T>A (n.*693T>A)
Xg.48905111C>ACA516360032SLC35A2c.798G>T (p.Gly266=)
c.355-219G>T (n.355-219G>T)
c.427-219G>T (n.427-219G>T)
c.360G>T
c.882G>T (p.Gly294=)
c.837G>T (p.Gly279=)
c.424+1281G>T
c.615G>T (p.Gly205=)
c.*692G>T (n.*692G>T)
Xg.48905111C>GCA516360036SLC35A2c.798G>C (p.Gly266=)
c.355-219G>C (n.355-219G>C)
c.427-219G>C (n.427-219G>C)
c.360G>C
c.882G>C (p.Gly294=)
c.837G>C (p.Gly279=)
c.424+1281G>C
c.615G>C (p.Gly205=)
c.*692G>C (n.*692G>C)
Xg.48905111C>TCA516360034SLC35A2c.798G>A (p.Gly266=)
c.355-219G>A (n.355-219G>A)
c.427-219G>A (n.427-219G>A)
c.360G>A
c.882G>A (p.Gly294=)
c.837G>A (p.Gly279=)
c.424+1281G>A
c.615G>A (p.Gly205=)
c.*692G>A (n.*692G>A)
 gnomAD v4
Xg.48905112C>ACA412895196SLC35A2c.797G>T (p.Gly266Val)
c.355-220G>T (n.355-220G>T)
c.427-220G>T (n.427-220G>T)
c.359G>T
c.881G>T (p.Gly294Val)
c.836G>T (p.Gly279Val)
c.424+1280G>T
c.614G>T (p.Gly205Val)
c.*691G>T (n.*691G>T)
Xg.48905112C>GCA412895195SLC35A2c.797G>C (p.Gly266Ala)
c.355-220G>C (n.355-220G>C)
c.427-220G>C (n.427-220G>C)
c.359G>C
c.881G>C (p.Gly294Ala)
c.836G>C (p.Gly279Ala)
c.424+1280G>C
c.614G>C (p.Gly205Ala)
c.*691G>C (n.*691G>C)
Xg.48905112C>TCA412895194SLC35A2c.797G>A (p.Gly266Glu)
c.355-220G>A (n.355-220G>A)
c.427-220G>A (n.427-220G>A)
c.359G>A
c.881G>A (p.Gly294Glu)
c.836G>A (p.Gly279Glu)
c.424+1280G>A
c.614G>A (p.Gly205Glu)
c.*691G>A (n.*691G>A)
Xg.48905113C>ACA412895197SLC35A2c.796G>T (p.Gly266Trp)
c.355-221G>T (n.355-221G>T)
c.427-221G>T (n.427-221G>T)
c.358G>T
c.880G>T (p.Gly294Trp)
c.835G>T (p.Gly279Trp)
c.424+1279G>T
c.613G>T (p.Gly205Trp)
c.*690G>T (n.*690G>T)
 gnomAD v4
Xg.48905113C>GCA412895198SLC35A2c.796G>C (p.Gly266Arg)
c.355-221G>C (n.355-221G>C)
c.427-221G>C (n.427-221G>C)
c.358G>C
c.880G>C (p.Gly294Arg)
c.835G>C (p.Gly279Arg)
c.424+1279G>C
c.613G>C (p.Gly205Arg)
c.*690G>C (n.*690G>C)
Xg.48905113C>TCA412895199SLC35A2c.796G>A (p.Gly266Arg)
c.355-221G>A (n.355-221G>A)
c.427-221G>A (n.427-221G>A)
c.358G>A
c.880G>A (p.Gly294Arg)
c.835G>A (p.Gly279Arg)
c.424+1279G>A
c.613G>A (p.Gly205Arg)
c.*690G>A (n.*690G>A)
Xg.48905113_48905114delinsCACA2428428875SLC35A2c.795_796delinsTG (p.Phe265=)
c.355-222_355-221delinsTG (n.355-222_355-221delinsTG)
c.427-222_427-221delinsTG (n.427-222_427-221delinsTG)
c.357_358delinsTG
c.879_880delinsTG (p.Phe293=)
c.834_835delinsTG (p.Phe278=)
c.424+1278_424+1279delinsTG
c.612_613delinsTG (p.Phe204=)
c.*689_*690delinsTG (n.*689_*690delinsTG)
Xg.48905114A>CCA412895200SLC35A2c.795T>G (p.Phe265Leu)
c.355-222T>G (n.355-222T>G)
c.427-222T>G (n.427-222T>G)
c.357T>G
c.879T>G (p.Phe293Leu)
c.834T>G (p.Phe278Leu)
c.424+1278T>G
c.612T>G (p.Phe204Leu)
c.*689T>G (n.*689T>G)
Xg.48905114A>GCA516360042SLC35A2c.795T>C (p.Phe265=)
c.355-222T>C (n.355-222T>C)
c.427-222T>C (n.427-222T>C)
c.357T>C
c.879T>C (p.Phe293=)
c.834T>C (p.Phe278=)
c.424+1278T>C
c.612T>C (p.Phe204=)
c.*689T>C (n.*689T>C)
Xg.48905114A>TCA412895201SLC35A2c.795T>A (p.Phe265Leu)
c.355-222T>A (n.355-222T>A)
c.427-222T>A (n.427-222T>A)
c.357T>A
c.879T>A (p.Phe293Leu)
c.834T>A (p.Phe278Leu)
c.424+1278T>A
c.612T>A (p.Phe204Leu)
c.*689T>A (n.*689T>A)
Xg.48905119dupCA2580101089SLC35A2c.795dup (p.Gly266TrpfsTer28)
c.355-222dup (n.355-222dup)
c.427-222dup (n.427-222dup)
c.357dup
c.879dup (p.Gly294TrpfsTer28)
c.834dup (p.Gly279TrpfsTer28)
c.424+1278dup
c.612dup (p.Gly205TrpfsTer28)
c.*689dup (n.*689dup)
 ClinVar
Xg.48905119delCA658799742SLC35A2c.795del (p.Phe265LeufsTer?)
c.355-222del (n.355-222del)
c.427-222del (n.427-222del)
c.357del
c.879del (p.Phe293LeufsTer?)
c.834del (p.Phe278LeufsTer?)
c.424+1278del
c.612del (p.Phe204LeufsTer?)
c.*689del (n.*689del)
 ClinVar dbSNP
Xg.48905115A>CCA412895202SLC35A2c.794T>G (p.Phe265Cys)
c.355-223T>G (n.355-223T>G)
c.427-223T>G (n.427-223T>G)
c.356T>G
c.878T>G (p.Phe293Cys)
c.833T>G (p.Phe278Cys)
c.424+1277T>G
c.611T>G (p.Phe204Cys)
c.*688T>G (n.*688T>G)
Xg.48905115A>GCA412895203SLC35A2c.794T>C (p.Phe265Ser)
c.355-223T>C (n.355-223T>C)
c.427-223T>C (n.427-223T>C)
c.356T>C
c.878T>C (p.Phe293Ser)
c.833T>C (p.Phe278Ser)
c.424+1277T>C
c.611T>C (p.Phe204Ser)
c.*688T>C (n.*688T>C)
Xg.48905115A>TCA412895204SLC35A2c.794T>A (p.Phe265Tyr)
c.355-223T>A (n.355-223T>A)
c.427-223T>A (n.427-223T>A)
c.356T>A
c.878T>A (p.Phe293Tyr)
c.833T>A (p.Phe278Tyr)
c.424+1277T>A
c.611T>A (p.Phe204Tyr)
c.*688T>A (n.*688T>A)
Xg.48905116A>CCA412895205SLC35A2c.793T>G (p.Phe265Val)
c.355-224T>G (n.355-224T>G)
c.427-224T>G (n.427-224T>G)
c.355T>G
c.877T>G (p.Phe293Val)
c.832T>G (p.Phe278Val)
c.424+1276T>G
c.610T>G (p.Phe204Val)
c.*687T>G (n.*687T>G)
Xg.48905116A>GCA412895206SLC35A2c.793T>C (p.Phe265Leu)
c.355-224T>C (n.355-224T>C)
c.427-224T>C (n.427-224T>C)
c.355T>C
c.877T>C (p.Phe293Leu)
c.832T>C (p.Phe278Leu)
c.424+1276T>C
c.610T>C (p.Phe204Leu)
c.*687T>C (n.*687T>C)
Xg.48905116A>TCA412895207SLC35A2c.793T>A (p.Phe265Ile)
c.355-224T>A (n.355-224T>A)
c.427-224T>A (n.427-224T>A)
c.355T>A
c.877T>A (p.Phe293Ile)
c.832T>A (p.Phe278Ile)
c.424+1276T>A
c.610T>A (p.Phe204Ile)
c.*687T>A (n.*687T>A)
Xg.48905117A>CCA412895208SLC35A2c.792T>G (p.Phe264Leu)
c.355-225T>G (n.355-225T>G)
c.427-225T>G (n.427-225T>G)
c.354T>G
c.876T>G (p.Phe292Leu)
c.831T>G (p.Phe277Leu)
c.424+1275T>G
c.609T>G (p.Phe203Leu)
c.*686T>G (n.*686T>G)
Xg.48905117A>GCA516360047SLC35A2c.792T>C (p.Phe264=)
c.355-225T>C (n.355-225T>C)
c.427-225T>C (n.427-225T>C)
c.354T>C
c.876T>C (p.Phe292=)
c.831T>C (p.Phe277=)
c.424+1275T>C
c.609T>C (p.Phe203=)
c.*686T>C (n.*686T>C)
Xg.48905117A>TCA412895209SLC35A2c.792T>A (p.Phe264Leu)
c.355-225T>A (n.355-225T>A)
c.427-225T>A (n.427-225T>A)
c.354T>A
c.876T>A (p.Phe292Leu)
c.831T>A (p.Phe277Leu)
c.424+1275T>A
c.609T>A (p.Phe203Leu)
c.*686T>A (n.*686T>A)
Xg.48905118A>CCA412895211SLC35A2c.791T>G (p.Phe264Cys)
c.355-226T>G (n.355-226T>G)
c.427-226T>G (n.427-226T>G)
c.353T>G
c.875T>G (p.Phe292Cys)
c.830T>G (p.Phe277Cys)
c.424+1274T>G
c.608T>G (p.Phe203Cys)
c.*685T>G (n.*685T>G)
Xg.48905118A>GCA412895212SLC35A2c.791T>C (p.Phe264Ser)
c.355-226T>C (n.355-226T>C)
c.427-226T>C (n.427-226T>C)
c.353T>C
c.875T>C (p.Phe292Ser)
c.830T>C (p.Phe277Ser)
c.424+1274T>C
c.608T>C (p.Phe203Ser)
c.*685T>C (n.*685T>C)
Xg.48905118A>TCA412895210SLC35A2c.791T>A (p.Phe264Tyr)
c.355-226T>A (n.355-226T>A)
c.427-226T>A (n.427-226T>A)
c.353T>A
c.875T>A (p.Phe292Tyr)
c.830T>A (p.Phe277Tyr)
c.424+1274T>A
c.608T>A (p.Phe203Tyr)
c.*685T>A (n.*685T>A)
Xg.48905119A>CCA412895213SLC35A2c.790T>G (p.Phe264Val)
c.355-227T>G (n.355-227T>G)
c.427-227T>G (n.427-227T>G)
c.352T>G
c.874T>G (p.Phe292Val)
c.829T>G (p.Phe277Val)
c.424+1273T>G
c.607T>G (p.Phe203Val)
c.*684T>G (n.*684T>G)
Xg.48905119A>GCA412895214SLC35A2c.790T>C (p.Phe264Leu)
c.355-227T>C (n.355-227T>C)
c.427-227T>C (n.427-227T>C)
c.352T>C
c.874T>C (p.Phe292Leu)
c.829T>C (p.Phe277Leu)
c.424+1273T>C
c.607T>C (p.Phe203Leu)
c.*684T>C (n.*684T>C)
Xg.48905119A>TCA412895215SLC35A2c.790T>A (p.Phe264Ile)
c.355-227T>A (n.355-227T>A)
c.427-227T>A (n.427-227T>A)
c.352T>A
c.874T>A (p.Phe292Ile)
c.829T>A (p.Phe277Ile)
c.424+1273T>A
c.607T>A (p.Phe203Ile)
c.*684T>A (n.*684T>A)
Xg.48905120G>ACA516360053SLC35A2c.789C>T (p.Phe263=)
c.355-228C>T (n.355-228C>T)
c.427-228C>T (n.427-228C>T)
c.351C>T
c.873C>T (p.Phe291=)
c.828C>T (p.Phe276=)
c.424+1272C>T
c.606C>T (p.Phe202=)
c.*683C>T (n.*683C>T)
Xg.48905120G>CCA412895216SLC35A2c.789C>G (p.Phe263Leu)
c.355-228C>G (n.355-228C>G)
c.427-228C>G (n.427-228C>G)
c.351C>G
c.873C>G (p.Phe291Leu)
c.828C>G (p.Phe276Leu)
c.424+1272C>G
c.606C>G (p.Phe202Leu)
c.*683C>G (n.*683C>G)
 gnomAD v4
Xg.48905120G>TCA412895217SLC35A2c.789C>A (p.Phe263Leu)
c.355-228C>A (n.355-228C>A)
c.427-228C>A (n.427-228C>A)
c.351C>A
c.873C>A (p.Phe291Leu)
c.828C>A (p.Phe276Leu)
c.424+1272C>A
c.606C>A (p.Phe202Leu)
c.*683C>A (n.*683C>A)
Xg.48905121A>CCA412895220SLC35A2c.788T>G (p.Phe263Cys)
c.355-229T>G (n.355-229T>G)
c.427-229T>G (n.427-229T>G)
c.350T>G
c.872T>G (p.Phe291Cys)
c.827T>G (p.Phe276Cys)
c.424+1271T>G
c.605T>G (p.Phe202Cys)
c.*682T>G (n.*682T>G)
Xg.48905121A>GCA412895219SLC35A2c.788T>C (p.Phe263Ser)
c.355-229T>C (n.355-229T>C)
c.427-229T>C (n.427-229T>C)
c.350T>C
c.872T>C (p.Phe291Ser)
c.827T>C (p.Phe276Ser)
c.424+1271T>C
c.605T>C (p.Phe202Ser)
c.*682T>C (n.*682T>C)
Xg.48905121A>TCA412895218SLC35A2c.788T>A (p.Phe263Tyr)
c.355-229T>A (n.355-229T>A)
c.427-229T>A (n.427-229T>A)
c.350T>A
c.872T>A (p.Phe291Tyr)
c.827T>A (p.Phe276Tyr)
c.424+1271T>A
c.605T>A (p.Phe202Tyr)
c.*682T>A (n.*682T>A)
Xg.48905122A>CCA412895221SLC35A2c.787T>G (p.Phe263Val)
c.355-230T>G (n.355-230T>G)
c.427-230T>G (n.427-230T>G)
c.349T>G
c.871T>G (p.Phe291Val)
c.826T>G (p.Phe276Val)
c.424+1270T>G
c.604T>G (p.Phe202Val)
c.*681T>G (n.*681T>G)
Xg.48905122A>GCA412895222SLC35A2c.787T>C (p.Phe263Leu)
c.355-230T>C (n.355-230T>C)
c.427-230T>C (n.427-230T>C)
c.349T>C
c.871T>C (p.Phe291Leu)
c.826T>C (p.Phe276Leu)
c.424+1270T>C
c.604T>C (p.Phe202Leu)
c.*681T>C (n.*681T>C)
Xg.48905122A>TCA412895223SLC35A2c.787T>A (p.Phe263Ile)
c.355-230T>A (n.355-230T>A)
c.427-230T>A (n.427-230T>A)
c.349T>A
c.871T>A (p.Phe291Ile)
c.826T>A (p.Phe276Ile)
c.424+1270T>A
c.604T>A (p.Phe202Ile)
c.*681T>A (n.*681T>A)
Xg.48905123A=CA2428428876SLC35A2c.786T= (p.Gly262=)
c.355-231T= (n.355-231T=)
c.427-231T= (n.427-231T=)
c.348T=
c.870T= (p.Gly290=)
c.825T= (p.Gly275=)
c.424+1269T=
c.603T= (p.Gly201=)
c.*680T= (n.*680T=)
Xg.48905123A>CCA516360059SLC35A2c.786T>G (p.Gly262=)
c.355-231T>G (n.355-231T>G)
c.427-231T>G (n.427-231T>G)
c.348T>G
c.870T>G (p.Gly290=)
c.825T>G (p.Gly275=)
c.424+1269T>G
c.603T>G (p.Gly201=)
c.*680T>G (n.*680T>G)
Xg.48905123A>GCA516360060SLC35A2c.786T>C (p.Gly262=)
c.355-231T>C (n.355-231T>C)
c.427-231T>C (n.427-231T>C)
c.348T>C
c.870T>C (p.Gly290=)
c.825T>C (p.Gly275=)
c.424+1269T>C
c.603T>C (p.Gly201=)
c.*680T>C (n.*680T>C)
 dbSNP gnomAD v2
Xg.48905123A>TCA516360062SLC35A2c.786T>A (p.Gly262=)
c.355-231T>A (n.355-231T>A)
c.427-231T>A (n.427-231T>A)
c.348T>A
c.870T>A (p.Gly290=)
c.825T>A (p.Gly275=)
c.424+1269T>A
c.603T>A (p.Gly201=)
c.*680T>A (n.*680T>A)
Xg.48905124C>ACA412895224SLC35A2c.785G>T (p.Gly262Val)
c.355-232G>T (n.355-232G>T)
c.427-232G>T (n.427-232G>T)
c.347G>T
c.869G>T (p.Gly290Val)
c.824G>T (p.Gly275Val)
c.424+1268G>T
c.602G>T (p.Gly201Val)
c.*679G>T (n.*679G>T)
Xg.48905124C>GCA412895225SLC35A2c.785G>C (p.Gly262Ala)
c.355-232G>C (n.355-232G>C)
c.427-232G>C (n.427-232G>C)
c.347G>C
c.869G>C (p.Gly290Ala)
c.824G>C (p.Gly275Ala)
c.424+1268G>C
c.602G>C (p.Gly201Ala)
c.*679G>C (n.*679G>C)
Xg.48905124C>TCA412895226SLC35A2c.785G>A (p.Gly262Asp)
c.355-232G>A (n.355-232G>A)
c.427-232G>A (n.427-232G>A)
c.347G>A
c.869G>A (p.Gly290Asp)
c.824G>A (p.Gly275Asp)
c.424+1268G>A
c.602G>A (p.Gly201Asp)
c.*679G>A (n.*679G>A)
Xg.48905125C>ACA412895227SLC35A2c.784G>T (p.Gly262Cys)
c.355-233G>T (n.355-233G>T)
c.427-233G>T (n.427-233G>T)
c.346G>T
c.868G>T (p.Gly290Cys)
c.823G>T (p.Gly275Cys)
c.424+1267G>T
c.601G>T (p.Gly201Cys)
c.*678G>T (n.*678G>T)
Xg.48905125C>GCA412895229SLC35A2c.784G>C (p.Gly262Arg)
c.355-233G>C (n.355-233G>C)
c.427-233G>C (n.427-233G>C)
c.346G>C
c.868G>C (p.Gly290Arg)
c.823G>C (p.Gly275Arg)
c.424+1267G>C
c.601G>C (p.Gly201Arg)
c.*678G>C (n.*678G>C)
Xg.48905125C>TCA412895228SLC35A2c.784G>A (p.Gly262Ser)
c.355-233G>A (n.355-233G>A)
c.427-233G>A (n.427-233G>A)
c.346G>A
c.868G>A (p.Gly290Ser)
c.823G>A (p.Gly275Ser)
c.424+1267G>A
c.601G>A (p.Gly201Ser)
c.*678G>A (n.*678G>A)
 COSMIC
Xg.48905126A>CCA516360067SLC35A2c.783T>G (p.Arg261=)
c.355-234T>G (n.355-234T>G)
c.427-234T>G (n.427-234T>G)
c.345T>G
c.867T>G (p.Arg289=)
c.822T>G (p.Arg274=)
c.424+1266T>G
c.600T>G (p.Arg200=)
c.*677T>G (n.*677T>G)
Xg.48905126A>GCA516360064SLC35A2c.783T>C (p.Arg261=)
c.355-234T>C (n.355-234T>C)
c.427-234T>C (n.427-234T>C)
c.345T>C
c.867T>C (p.Arg289=)
c.822T>C (p.Arg274=)
c.424+1266T>C
c.600T>C (p.Arg200=)
c.*677T>C (n.*677T>C)
 gnomAD v4
Xg.48905126A>TCA516360066SLC35A2c.783T>A (p.Arg261=)
c.355-234T>A (n.355-234T>A)
c.427-234T>A (n.427-234T>A)
c.345T>A
c.867T>A (p.Arg289=)
c.822T>A (p.Arg274=)
c.424+1266T>A
c.600T>A (p.Arg200=)
c.*677T>A (n.*677T>A)
Xg.48905127C>ACA412895230SLC35A2c.782G>T (p.Arg261Leu)
c.355-235G>T (n.355-235G>T)
c.427-235G>T (n.427-235G>T)
c.344G>T
c.866G>T (p.Arg289Leu)
c.821G>T (p.Arg274Leu)
c.424+1265G>T
c.599G>T (p.Arg200Leu)
c.*676G>T (n.*676G>T)
Xg.48905127C=CA2428428877SLC35A2c.782G= (p.Arg261=)
c.355-235G= (n.355-235G=)
c.427-235G= (n.427-235G=)
c.344G=
c.866G= (p.Arg289=)
c.821G= (p.Arg274=)
c.424+1265G=
c.599G= (p.Arg200=)
c.*676G= (n.*676G=)
Xg.48905127C>GCA412895231SLC35A2c.782G>C (p.Arg261Pro)
c.355-235G>C (n.355-235G>C)
c.427-235G>C (n.427-235G>C)
c.344G>C
c.866G>C (p.Arg289Pro)
c.821G>C (p.Arg274Pro)
c.424+1265G>C
c.599G>C (p.Arg200Pro)
c.*676G>C (n.*676G>C)
Xg.48905127C>TCA412895232SLC35A2c.782G>A (p.Arg261His)
c.355-235G>A (n.355-235G>A)
c.427-235G>A (n.427-235G>A)
c.344G>A
c.866G>A (p.Arg289His)
c.821G>A (p.Arg274His)
c.424+1265G>A
c.599G>A (p.Arg200His)
c.*676G>A (n.*676G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905128G>ACA412895233SLC35A2c.781C>T (p.Arg261Cys)
c.355-236C>T (n.355-236C>T)
c.427-236C>T (n.427-236C>T)
c.343C>T
c.865C>T (p.Arg289Cys)
c.820C>T (p.Arg274Cys)
c.424+1264C>T
c.598C>T (p.Arg200Cys)
c.*675C>T (n.*675C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905128G>CCA412895234SLC35A2c.781C>G (p.Arg261Gly)
c.355-236C>G (n.355-236C>G)
c.427-236C>G (n.427-236C>G)
c.343C>G
c.865C>G (p.Arg289Gly)
c.820C>G (p.Arg274Gly)
c.424+1264C>G
c.598C>G (p.Arg200Gly)
c.*675C>G (n.*675C>G)
Xg.48905128G=CA2428428878SLC35A2c.781C= (p.Arg261=)
c.355-236C= (n.355-236C=)
c.427-236C= (n.427-236C=)
c.343C=
c.865C= (p.Arg289=)
c.820C= (p.Arg274=)
c.424+1264C=
c.598C= (p.Arg200=)
c.*675C= (n.*675C=)
Xg.48905128G>TCA412895235SLC35A2c.781C>A (p.Arg261Ser)
c.355-236C>A (n.355-236C>A)
c.427-236C>A (n.427-236C>A)
c.343C>A
c.865C>A (p.Arg289Ser)
c.820C>A (p.Arg274Ser)
c.424+1264C>A
c.598C>A (p.Arg200Ser)
c.*675C>A (n.*675C>A)
Xg.48905130delCA2499226748SLC35A2c.781del (p.Arg261ValfsTer?)
c.355-236del (n.355-236del)
c.427-236del (n.427-236del)
c.343del
c.865del (p.Arg289ValfsTer?)
c.820del (p.Arg274ValfsTer?)
c.424+1264del
c.598del (p.Arg200ValfsTer?)
c.*675del (n.*675del)
 ClinVar dbSNP
Xg.48905129G>ACA516360072SLC35A2c.780C>T (p.Thr260=)
c.355-237C>T (n.355-237C>T)
c.427-237C>T (n.427-237C>T)
c.342C>T
c.864C>T (p.Thr288=)
c.819C>T (p.Thr273=)
c.424+1263C>T
c.597C>T (p.Thr199=)
c.*674C>T (n.*674C>T)
 gnomAD v4
Xg.48905129G>CCA516360073SLC35A2c.780C>G (p.Thr260=)
c.355-237C>G (n.355-237C>G)
c.427-237C>G (n.427-237C>G)
c.342C>G
c.864C>G (p.Thr288=)
c.819C>G (p.Thr273=)
c.424+1263C>G
c.597C>G (p.Thr199=)
c.*674C>G (n.*674C>G)
Xg.48905129G>TCA516360074SLC35A2c.780C>A (p.Thr260=)
c.355-237C>A (n.355-237C>A)
c.427-237C>A (n.427-237C>A)
c.342C>A
c.864C>A (p.Thr288=)
c.819C>A (p.Thr273=)
c.424+1263C>A
c.597C>A (p.Thr199=)
c.*674C>A (n.*674C>A)
Xg.48905130G>ACA412895236SLC35A2c.779C>T (p.Thr260Ile)
c.355-238C>T (n.355-238C>T)
c.427-238C>T (n.427-238C>T)
c.341C>T
c.863C>T (p.Thr288Ile)
c.818C>T (p.Thr273Ile)
c.424+1262C>T
c.596C>T (p.Thr199Ile)
c.*673C>T (n.*673C>T)
Xg.48905130G>CCA412895237SLC35A2c.779C>G (p.Thr260Ser)
c.355-238C>G (n.355-238C>G)
c.427-238C>G (n.427-238C>G)
c.341C>G
c.863C>G (p.Thr288Ser)
c.818C>G (p.Thr273Ser)
c.424+1262C>G
c.596C>G (p.Thr199Ser)
c.*673C>G (n.*673C>G)
Xg.48905130G>TCA412895238SLC35A2c.779C>A (p.Thr260Asn)
c.355-238C>A (n.355-238C>A)
c.427-238C>A (n.427-238C>A)
c.341C>A
c.863C>A (p.Thr288Asn)
c.818C>A (p.Thr273Asn)
c.424+1262C>A
c.596C>A (p.Thr199Asn)
c.*673C>A (n.*673C>A)
Xg.48905131T>ACA412895239SLC35A2c.778A>T (p.Thr260Ser)
c.355-239A>T (n.355-239A>T)
c.427-239A>T (n.427-239A>T)
c.340A>T
c.862A>T (p.Thr288Ser)
c.817A>T (p.Thr273Ser)
c.424+1261A>T
c.595A>T (p.Thr199Ser)
c.*672A>T (n.*672A>T)
Xg.48905131T>CCA412895240SLC35A2c.778A>G (p.Thr260Ala)
c.355-239A>G (n.355-239A>G)
c.427-239A>G (n.427-239A>G)
c.340A>G
c.862A>G (p.Thr288Ala)
c.817A>G (p.Thr273Ala)
c.424+1261A>G
c.595A>G (p.Thr199Ala)
c.*672A>G (n.*672A>G)
Xg.48905131T>GCA412895241SLC35A2c.778A>C (p.Thr260Pro)
c.355-239A>C (n.355-239A>C)
c.427-239A>C (n.427-239A>C)
c.340A>C
c.862A>C (p.Thr288Pro)
c.817A>C (p.Thr273Pro)
c.424+1261A>C
c.595A>C (p.Thr199Pro)
c.*672A>C (n.*672A>C)
Xg.48905132G>ACA516360076SLC35A2c.777C>T (p.Ala259=)
c.355-240C>T (n.355-240C>T)
c.427-240C>T (n.427-240C>T)
c.339C>T
c.861C>T (p.Ala287=)
c.816C>T (p.Ala272=)
c.424+1260C>T
c.594C>T (p.Ala198=)
c.*671C>T (n.*671C>T)
Xg.48905132G>CCA516360077SLC35A2c.777C>G (p.Ala259=)
c.355-240C>G (n.355-240C>G)
c.427-240C>G (n.427-240C>G)
c.339C>G
c.861C>G (p.Ala287=)
c.816C>G (p.Ala272=)
c.424+1260C>G
c.594C>G (p.Ala198=)
c.*671C>G (n.*671C>G)
Xg.48905132G>TCA516360078SLC35A2c.777C>A (p.Ala259=)
c.355-240C>A (n.355-240C>A)
c.427-240C>A (n.427-240C>A)
c.339C>A
c.861C>A (p.Ala287=)
c.816C>A (p.Ala272=)
c.424+1260C>A
c.594C>A (p.Ala198=)
c.*671C>A (n.*671C>A)
Xg.48905133G>ACA412895244SLC35A2c.776C>T (p.Ala259Val)
c.355-241C>T (n.355-241C>T)
c.427-241C>T (n.427-241C>T)
c.338C>T
c.860C>T (p.Ala287Val)
c.815C>T (p.Ala272Val)
c.424+1259C>T
c.593C>T (p.Ala198Val)
c.*670C>T (n.*670C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905133G>CCA412895243SLC35A2c.776C>G (p.Ala259Gly)
c.355-241C>G (n.355-241C>G)
c.427-241C>G (n.427-241C>G)
c.338C>G
c.860C>G (p.Ala287Gly)
c.815C>G (p.Ala272Gly)
c.424+1259C>G
c.593C>G (p.Ala198Gly)
c.*670C>G (n.*670C>G)
Xg.48905133G=CA2428428879SLC35A2c.776C= (p.Ala259=)
c.355-241C= (n.355-241C=)
c.427-241C= (n.427-241C=)
c.338C=
c.860C= (p.Ala287=)
c.815C= (p.Ala272=)
c.424+1259C=
c.593C= (p.Ala198=)
c.*670C= (n.*670C=)
Xg.48905133G>TCA412895242SLC35A2c.776C>A (p.Ala259Asp)
c.355-241C>A (n.355-241C>A)
c.427-241C>A (n.427-241C>A)
c.338C>A
c.860C>A (p.Ala287Asp)
c.815C>A (p.Ala272Asp)
c.424+1259C>A
c.593C>A (p.Ala198Asp)
c.*670C>A (n.*670C>A)
Xg.48905133_48906105delinsGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAACA2428428880SLC35A2c.426+287_776delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
c.354+287_355-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC (n.354+287_355-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC)
c.426+287_427-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC (n.426+287_427-241delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC)
c.211+287_338delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
c.510+287_860delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
c.465+287_815delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
c.424+287_424+1259delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
c.243+287_593delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
c.*320+287_*670delinsTTAAAGAGCCTGGATTCTGGGGCCAGGCTGTCTGGGTTCAAATCTCAGCTCTGCTACCTTCCAGCTGTGTGATTTTGGGGCACGTCACCTAACCTCTCTGTGCCTTAGTTTTCTCACCTTTAAATTGGGGCTTACAGTGGTGCTCACTTCAGAATGGTGTTGTGAGAATTAAATGAATGAATTCACGTGCAGTGCCTAGAACCACACTGATATATTGTAAGCACTATGTAAGTATTTGCTGACATTGTTGTGGCTATTGATTCATTTGTATCAAGTCCCTCATCACAAAGATACTTCCATACCTCAGCCATCTTTTATAGATGATGATGCCAGGGCTCAGACAGGGCAAGTGCTTTGTCCCCAGTCACACAGCCAGGAAATGGGATTGGGATGTGGACTTCTTGGCACAGCCATCCTTTTGTGCACTTGCTGGGAGAGACTTCAGAACTGTTTTGCTGCAGCTCAGCCAATGGCCAGTGGCTGGCTCCTTTTGCTGTTTTTGCTGTCATACCCCCCACCCTGTCCCTCCATTGTGCCTGGGGGCCCACAGTGGGTGCTGCCCCCCATGTGCACCTGTTGGGGGCCAGGGTCAGCCCTCAGTGCCTTCCACGTGCCACTCGCAGGTGACATACCAGCTGAAGATCCTGACCACAGCGCTGTTCTCCGTGCTCATGCTGAATCGCAGCCTTTCCCGGCTGCAGTGGGCCTCCCTGCTGCTCCTCTTCACTGGCGTCGCCATTGTCCAGGCACAGCAAGCCGGTGGGGGAGGCCCACGGCCACTGGATCAGAACCCTGGGGCAGGCCTGGCAGCCGTCGTGGCCTCCTGTCTCTCCTCCGGCTTCGCAGGTGTCTACTTTGAGAAGATCCTCAAAGGCAGCTCAGGCTCCGTGTGGCTGCGCAACCTGCAACTGGGCCTCTTCGGCACAGCACTGGGCCTGGTGGGGCTCTGGTGGGCTGAGGGTACCGCCGTGGC
Xg.48905134C>ACA412895245SLC35A2c.775G>T (p.Ala259Ser)
c.355-242G>T (n.355-242G>T)
c.427-242G>T (n.427-242G>T)
c.337G>T
c.859G>T (p.Ala287Ser)
c.814G>T (p.Ala272Ser)
c.424+1258G>T
c.592G>T (p.Ala198Ser)
c.*669G>T (n.*669G>T)
Xg.48905134C=CA2428428881SLC35A2c.775G= (p.Ala259=)
c.355-242G= (n.355-242G=)
c.427-242G= (n.427-242G=)
c.337G=
c.859G= (p.Ala287=)
c.814G= (p.Ala272=)
c.424+1258G=
c.592G= (p.Ala198=)
c.*669G= (n.*669G=)
Xg.48905134C>GCA412895246SLC35A2c.775G>C (p.Ala259Pro)
c.355-242G>C (n.355-242G>C)
c.427-242G>C (n.427-242G>C)
c.337G>C
c.859G>C (p.Ala287Pro)
c.814G>C (p.Ala272Pro)
c.424+1258G>C
c.592G>C (p.Ala198Pro)
c.*669G>C (n.*669G>C)
Xg.48905134C>TCA10406097SLC35A2c.775G>A (p.Ala259Thr)
c.355-242G>A (n.355-242G>A)
c.427-242G>A (n.427-242G>A)
c.337G>A
c.859G>A (p.Ala287Thr)
c.814G>A (p.Ala272Thr)
c.424+1258G>A
c.592G>A (p.Ala198Thr)
c.*669G>A (n.*669G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905137_48906108delCA16616606SLC35A2c.426+287_775del
c.354+287_355-242del (n.354+287_355-242del)
c.426+287_427-242del (n.426+287_427-242del)
c.211+287_337del
c.510+287_859del
c.465+287_814del
c.424+287_424+1258del
c.243+287_592del
c.*320+287_*669del
 ClinVar dbSNP
Xg.48905135C>ACA516360090SLC35A2c.774G>T (p.Val258=)
c.355-243G>T (n.355-243G>T)
c.427-243G>T (n.427-243G>T)
c.336G>T
c.858G>T (p.Val286=)
c.813G>T (p.Val271=)
c.424+1257G>T
c.591G>T (p.Val197=)
c.*668G>T (n.*668G>T)
Xg.48905135C>GCA516360092SLC35A2c.774G>C (p.Val258=)
c.355-243G>C (n.355-243G>C)
c.427-243G>C (n.427-243G>C)
c.336G>C
c.858G>C (p.Val286=)
c.813G>C (p.Val271=)
c.424+1257G>C
c.591G>C (p.Val197=)
c.*668G>C (n.*668G>C)
Xg.48905135C>TCA516360093SLC35A2c.774G>A (p.Val258=)
c.355-243G>A (n.355-243G>A)
c.427-243G>A (n.427-243G>A)
c.336G>A
c.858G>A (p.Val286=)
c.813G>A (p.Val271=)
c.424+1257G>A
c.591G>A (p.Val197=)
c.*668G>A (n.*668G>A)
Xg.48905136A>CCA412895247SLC35A2c.773T>G (p.Val258Gly)
c.355-244T>G (n.355-244T>G)
c.427-244T>G (n.427-244T>G)
c.335T>G
c.857T>G (p.Val286Gly)
c.812T>G (p.Val271Gly)
c.424+1256T>G
c.590T>G (p.Val197Gly)
c.*667T>G (n.*667T>G)
Xg.48905136A>GCA412895249SLC35A2c.773T>C (p.Val258Ala)
c.355-244T>C (n.355-244T>C)
c.427-244T>C (n.427-244T>C)
c.335T>C
c.857T>C (p.Val286Ala)
c.812T>C (p.Val271Ala)
c.424+1256T>C
c.590T>C (p.Val197Ala)
c.*667T>C (n.*667T>C)
Xg.48905136A>TCA412895248SLC35A2c.773T>A (p.Val258Glu)
c.355-244T>A (n.355-244T>A)
c.427-244T>A (n.427-244T>A)
c.335T>A
c.857T>A (p.Val286Glu)
c.812T>A (p.Val271Glu)
c.424+1256T>A
c.590T>A (p.Val197Glu)
c.*667T>A (n.*667T>A)
Xg.48905137C>ACA412895250SLC35A2c.772G>T (p.Val258Leu)
c.355-245G>T (n.355-245G>T)
c.427-245G>T (n.427-245G>T)
c.334G>T
c.856G>T (p.Val286Leu)
c.811G>T (p.Val271Leu)
c.424+1255G>T
c.589G>T (p.Val197Leu)
c.*666G>T (n.*666G>T)
Xg.48905137C=CA2428428882SLC35A2c.772G= (p.Val258=)
c.355-245G= (n.355-245G=)
c.427-245G= (n.427-245G=)
c.334G=
c.856G= (p.Val286=)
c.811G= (p.Val271=)
c.424+1255G=
c.589G= (p.Val197=)
c.*666G= (n.*666G=)
Xg.48905137C>GCA412895251SLC35A2c.772G>C (p.Val258Leu)
c.355-245G>C (n.355-245G>C)
c.427-245G>C (n.427-245G>C)
c.334G>C
c.856G>C (p.Val286Leu)
c.811G>C (p.Val271Leu)
c.424+1255G>C
c.589G>C (p.Val197Leu)
c.*666G>C (n.*666G>C)
Xg.48905137C>TCA412895252SLC35A2c.772G>A (p.Val258Met)
c.355-245G>A (n.355-245G>A)
c.427-245G>A (n.427-245G>A)
c.334G>A
c.856G>A (p.Val286Met)
c.811G>A (p.Val271Met)
c.424+1255G>A
c.589G>A (p.Val197Met)
c.*666G>A (n.*666G>A)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905137_48905143delCA916084082SLC35A2c.766_772del (p.Thr256TrpfsTer?)
c.355-251_355-245del (n.355-251_355-245del)
c.427-251_427-245del (n.427-251_427-245del)
c.328_334del
c.850_856del (p.Thr284TrpfsTer?)
c.805_811del (p.Thr269TrpfsTer?)
c.424+1249_424+1255del
c.583_589del (p.Thr195TrpfsTer?)
c.*660_*666del (n.*660_*666del)
Xg.48905138G>ACA10406098SLC35A2c.771C>T (p.Ala257=)
c.355-246C>T (n.355-246C>T)
c.427-246C>T (n.427-246C>T)
c.333C>T
c.855C>T (p.Ala285=)
c.810C>T (p.Ala270=)
c.424+1254C>T
c.588C>T (p.Ala196=)
c.*665C>T (n.*665C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905138G>CCA516360098SLC35A2c.771C>G (p.Ala257=)
c.355-246C>G (n.355-246C>G)
c.427-246C>G (n.427-246C>G)
c.333C>G
c.855C>G (p.Ala285=)
c.810C>G (p.Ala270=)
c.424+1254C>G
c.588C>G (p.Ala196=)
c.*665C>G (n.*665C>G)
Xg.48905138G=CA2428428883SLC35A2c.771C= (p.Ala257=)
c.355-246C= (n.355-246C=)
c.427-246C= (n.427-246C=)
c.333C=
c.855C= (p.Ala285=)
c.810C= (p.Ala270=)
c.424+1254C=
c.588C= (p.Ala196=)
c.*665C= (n.*665C=)
Xg.48905138G>TCA516360099SLC35A2c.771C>A (p.Ala257=)
c.355-246C>A (n.355-246C>A)
c.427-246C>A (n.427-246C>A)
c.333C>A
c.855C>A (p.Ala285=)
c.810C>A (p.Ala270=)
c.424+1254C>A
c.588C>A (p.Ala196=)
c.*665C>A (n.*665C>A)
Xg.48905139G>ACA412895253SLC35A2c.770C>T (p.Ala257Val)
c.355-247C>T (n.355-247C>T)
c.427-247C>T (n.427-247C>T)
c.332C>T
c.854C>T (p.Ala285Val)
c.809C>T (p.Ala270Val)
c.424+1253C>T
c.587C>T (p.Ala196Val)
c.*664C>T (n.*664C>T)
Xg.48905139G>CCA412895254SLC35A2c.770C>G (p.Ala257Gly)
c.355-247C>G (n.355-247C>G)
c.427-247C>G (n.427-247C>G)
c.332C>G
c.854C>G (p.Ala285Gly)
c.809C>G (p.Ala270Gly)
c.424+1253C>G
c.587C>G (p.Ala196Gly)
c.*664C>G (n.*664C>G)
Xg.48905139G>TCA412895255SLC35A2c.770C>A (p.Ala257Asp)
c.355-247C>A (n.355-247C>A)
c.427-247C>A (n.427-247C>A)
c.332C>A
c.854C>A (p.Ala285Asp)
c.809C>A (p.Ala270Asp)
c.424+1253C>A
c.587C>A (p.Ala196Asp)
c.*664C>A (n.*664C>A)
Xg.48905140C>ACA412895256SLC35A2c.769G>T (p.Ala257Ser)
c.355-248G>T (n.355-248G>T)
c.427-248G>T (n.427-248G>T)
c.331G>T
c.853G>T (p.Ala285Ser)
c.808G>T (p.Ala270Ser)
c.424+1252G>T
c.586G>T (p.Ala196Ser)
c.*663G>T (n.*663G>T)
Xg.48905140C=CA2428428884SLC35A2c.769G= (p.Ala257=)
c.355-248G= (n.355-248G=)
c.427-248G= (n.427-248G=)
c.331G=
c.853G= (p.Ala285=)
c.808G= (p.Ala270=)
c.424+1252G=
c.586G= (p.Ala196=)
c.*663G= (n.*663G=)
Xg.48905140C>GCA412895257SLC35A2c.769G>C (p.Ala257Pro)
c.355-248G>C (n.355-248G>C)
c.427-248G>C (n.427-248G>C)
c.331G>C
c.853G>C (p.Ala285Pro)
c.808G>C (p.Ala270Pro)
c.424+1252G>C
c.586G>C (p.Ala196Pro)
c.*663G>C (n.*663G>C)
Xg.48905140C>TCA412895258SLC35A2c.769G>A (p.Ala257Thr)
c.355-248G>A (n.355-248G>A)
c.427-248G>A (n.427-248G>A)
c.331G>A
c.853G>A (p.Ala285Thr)
c.808G>A (p.Ala270Thr)
c.424+1252G>A
c.586G>A (p.Ala196Thr)
c.*663G>A (n.*663G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.48905141G>ACA10406099SLC35A2c.768C>T (p.Thr256=)
c.355-249C>T (n.355-249C>T)
c.427-249C>T (n.427-249C>T)
c.330C>T
c.852C>T (p.Thr284=)
c.807C>T (p.Thr269=)
c.424+1251C>T
c.585C>T (p.Thr195=)
c.*662C>T (n.*662C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905141G>CCA516360111SLC35A2c.768C>G (p.Thr256=)
c.355-249C>G (n.355-249C>G)
c.427-249C>G (n.427-249C>G)
c.330C>G
c.852C>G (p.Thr284=)
c.807C>G (p.Thr269=)
c.424+1251C>G
c.585C>G (p.Thr195=)
c.*662C>G (n.*662C>G)
Xg.48905141G=CA2428428885SLC35A2c.768C= (p.Thr256=)
c.355-249C= (n.355-249C=)
c.427-249C= (n.427-249C=)
c.330C=
c.852C= (p.Thr284=)
c.807C= (p.Thr269=)
c.424+1251C=
c.585C= (p.Thr195=)
c.*662C= (n.*662C=)
Xg.48905141G>TCA516360113SLC35A2c.768C>A (p.Thr256=)
c.355-249C>A (n.355-249C>A)
c.427-249C>A (n.427-249C>A)
c.330C>A
c.852C>A (p.Thr284=)
c.807C>A (p.Thr269=)
c.424+1251C>A
c.585C>A (p.Thr195=)
c.*662C>A (n.*662C>A)
Xg.48905142G>ACA412895261SLC35A2c.767C>T (p.Thr256Ile)
c.355-250C>T (n.355-250C>T)
c.427-250C>T (n.427-250C>T)
c.329C>T
c.851C>T (p.Thr284Ile)
c.806C>T (p.Thr269Ile)
c.424+1250C>T
c.584C>T (p.Thr195Ile)
c.*661C>T (n.*661C>T)
Xg.48905142G>CCA412895260SLC35A2c.767C>G (p.Thr256Ser)
c.355-250C>G (n.355-250C>G)
c.427-250C>G (n.427-250C>G)
c.329C>G
c.851C>G (p.Thr284Ser)
c.806C>G (p.Thr269Ser)
c.424+1250C>G
c.584C>G (p.Thr195Ser)
c.*661C>G (n.*661C>G)
Xg.48905142G>TCA412895259SLC35A2c.767C>A (p.Thr256Asn)
c.355-250C>A (n.355-250C>A)
c.427-250C>A (n.427-250C>A)
c.329C>A
c.851C>A (p.Thr284Asn)
c.806C>A (p.Thr269Asn)
c.424+1250C>A
c.584C>A (p.Thr195Asn)
c.*661C>A (n.*661C>A)
Xg.48905143T>ACA412895262SLC35A2c.766A>T (p.Thr256Ser)
c.355-251A>T (n.355-251A>T)
c.427-251A>T (n.427-251A>T)
c.328A>T
c.850A>T (p.Thr284Ser)
c.805A>T (p.Thr269Ser)
c.424+1249A>T
c.583A>T (p.Thr195Ser)
c.*660A>T (n.*660A>T)
Xg.48905143T>CCA412895263SLC35A2c.766A>G (p.Thr256Ala)
c.355-251A>G (n.355-251A>G)
c.427-251A>G (n.427-251A>G)
c.328A>G
c.850A>G (p.Thr284Ala)
c.805A>G (p.Thr269Ala)
c.424+1249A>G
c.583A>G (p.Thr195Ala)
c.*660A>G (n.*660A>G)
Xg.48905143T>GCA412895264SLC35A2c.766A>C (p.Thr256Pro)
c.355-251A>C (n.355-251A>C)
c.427-251A>C (n.427-251A>C)
c.328A>C
c.850A>C (p.Thr284Pro)
c.805A>C (p.Thr269Pro)
c.424+1249A>C
c.583A>C (p.Thr195Pro)
c.*660A>C (n.*660A>C)
Xg.48905144A>CCA516360117SLC35A2c.765T>G (p.Gly255=)
c.355-252T>G (n.355-252T>G)
c.427-252T>G (n.427-252T>G)
c.327T>G
c.849T>G (p.Gly283=)
c.804T>G (p.Gly268=)
c.424+1248T>G
c.582T>G (p.Gly194=)
c.*659T>G (n.*659T>G)
Xg.48905144A>GCA516360119SLC35A2c.765T>C (p.Gly255=)
c.355-252T>C (n.355-252T>C)
c.427-252T>C (n.427-252T>C)
c.327T>C
c.849T>C (p.Gly283=)
c.804T>C (p.Gly268=)
c.424+1248T>C
c.582T>C (p.Gly194=)
c.*659T>C (n.*659T>C)
Xg.48905144A>TCA516360122SLC35A2c.765T>A (p.Gly255=)
c.355-252T>A (n.355-252T>A)
c.427-252T>A (n.427-252T>A)
c.327T>A
c.849T>A (p.Gly283=)
c.804T>A (p.Gly268=)
c.424+1248T>A
c.582T>A (p.Gly194=)
c.*659T>A (n.*659T>A)
Xg.48905145C>ACA412895265SLC35A2c.764G>T (p.Gly255Val)
c.355-253G>T (n.355-253G>T)
c.427-253G>T (n.427-253G>T)
c.326G>T
c.848G>T (p.Gly283Val)
c.803G>T (p.Gly268Val)
c.424+1247G>T
c.581G>T (p.Gly194Val)
c.*658G>T (n.*658G>T)
Xg.48905145C>GCA412895266SLC35A2c.764G>C (p.Gly255Ala)
c.355-253G>C (n.355-253G>C)
c.427-253G>C (n.427-253G>C)
c.326G>C
c.848G>C (p.Gly283Ala)
c.803G>C (p.Gly268Ala)
c.424+1247G>C
c.581G>C (p.Gly194Ala)
c.*658G>C (n.*658G>C)
Xg.48905145C>TCA412895267SLC35A2c.764G>A (p.Gly255Asp)
c.355-253G>A (n.355-253G>A)
c.427-253G>A (n.427-253G>A)
c.326G>A
c.848G>A (p.Gly283Asp)
c.803G>A (p.Gly268Asp)
c.424+1247G>A
c.581G>A (p.Gly194Asp)
c.*658G>A (n.*658G>A)
Xg.48905146C>ACA412895268SLC35A2c.763G>T (p.Gly255Cys)
c.355-254G>T (n.355-254G>T)
c.427-254G>T (n.427-254G>T)
c.325G>T
c.847G>T (p.Gly283Cys)
c.802G>T (p.Gly268Cys)
c.424+1246G>T
c.580G>T (p.Gly194Cys)
c.*657G>T (n.*657G>T)
Xg.48905146C>GCA412895269SLC35A2c.763G>C (p.Gly255Arg)
c.355-254G>C (n.355-254G>C)
c.427-254G>C (n.427-254G>C)
c.325G>C
c.847G>C (p.Gly283Arg)
c.802G>C (p.Gly268Arg)
c.424+1246G>C
c.580G>C (p.Gly194Arg)
c.*657G>C (n.*657G>C)
Xg.48905146C>TCA412895270SLC35A2c.763G>A (p.Gly255Ser)
c.355-254G>A (n.355-254G>A)
c.427-254G>A (n.427-254G>A)
c.325G>A
c.847G>A (p.Gly283Ser)
c.802G>A (p.Gly268Ser)
c.424+1246G>A
c.580G>A (p.Gly194Ser)
c.*657G>A (n.*657G>A)
Xg.48905147C>ACA412895271SLC35A2c.762G>T (p.Glu254Asp)
c.355-255G>T (n.355-255G>T)
c.427-255G>T (n.427-255G>T)
c.324G>T
c.846G>T (p.Glu282Asp)
c.801G>T (p.Glu267Asp)
c.424+1245G>T
c.579G>T (p.Glu193Asp)
c.*656G>T (n.*656G>T)
Xg.48905147C>GCA412895272SLC35A2c.762G>C (p.Glu254Asp)
c.355-255G>C (n.355-255G>C)
c.427-255G>C (n.427-255G>C)
c.324G>C
c.846G>C (p.Glu282Asp)
c.801G>C (p.Glu267Asp)
c.424+1245G>C
c.579G>C (p.Glu193Asp)
c.*656G>C (n.*656G>C)
Xg.48905147C>TCA516360130SLC35A2c.762G>A (p.Glu254=)
c.355-255G>A (n.355-255G>A)
c.427-255G>A (n.427-255G>A)
c.324G>A
c.846G>A (p.Glu282=)
c.801G>A (p.Glu267=)
c.424+1245G>A
c.579G>A (p.Glu193=)
c.*656G>A (n.*656G>A)
Xg.48905148T>ACA412895275SLC35A2c.761A>T (p.Glu254Val)
c.355-256A>T (n.355-256A>T)
c.427-256A>T (n.427-256A>T)
c.323A>T
c.845A>T (p.Glu282Val)
c.800A>T (p.Glu267Val)
c.424+1244A>T
c.578A>T (p.Glu193Val)
c.*655A>T (n.*655A>T)
Xg.48905148T>CCA412895274SLC35A2c.761A>G (p.Glu254Gly)
c.355-256A>G (n.355-256A>G)
c.427-256A>G (n.427-256A>G)
c.323A>G
c.845A>G (p.Glu282Gly)
c.800A>G (p.Glu267Gly)
c.424+1244A>G
c.578A>G (p.Glu193Gly)
c.*655A>G (n.*655A>G)
Xg.48905148T>GCA412895273SLC35A2c.761A>C (p.Glu254Ala)
c.355-256A>C (n.355-256A>C)
c.427-256A>C (n.427-256A>C)
c.323A>C
c.845A>C (p.Glu282Ala)
c.800A>C (p.Glu267Ala)
c.424+1244A>C
c.578A>C (p.Glu193Ala)
c.*655A>C (n.*655A>C)
Xg.48905149C>ACA412895276SLC35A2c.760G>T (p.Glu254Ter)
c.355-257G>T (n.355-257G>T)
c.427-257G>T (n.427-257G>T)
c.322G>T
c.844G>T (p.Glu282Ter)
c.799G>T (p.Glu267Ter)
c.424+1243G>T
c.577G>T (p.Glu193Ter)
c.*654G>T (n.*654G>T)
Xg.48905149C>GCA412895277SLC35A2c.760G>C (p.Glu254Gln)
c.355-257G>C (n.355-257G>C)
c.427-257G>C (n.427-257G>C)
c.322G>C
c.844G>C (p.Glu282Gln)
c.799G>C (p.Glu267Gln)
c.424+1243G>C
c.577G>C (p.Glu193Gln)
c.*654G>C (n.*654G>C)
Xg.48905149C>TCA412895278SLC35A2c.760G>A (p.Glu254Lys)
c.355-257G>A (n.355-257G>A)
c.427-257G>A (n.427-257G>A)
c.322G>A
c.844G>A (p.Glu282Lys)
c.799G>A (p.Glu267Lys)
c.424+1243G>A
c.577G>A (p.Glu193Lys)
c.*654G>A (n.*654G>A)
Xg.48905150A>CCA516360139SLC35A2c.759T>G (p.Ala253=)
c.355-258T>G (n.355-258T>G)
c.427-258T>G (n.427-258T>G)
c.321T>G
c.843T>G (p.Ala281=)
c.798T>G (p.Ala266=)
c.424+1242T>G
c.576T>G (p.Ala192=)
c.*653T>G (n.*653T>G)
Xg.48905150A>GCA516360140SLC35A2c.759T>C (p.Ala253=)
c.355-258T>C (n.355-258T>C)
c.427-258T>C (n.427-258T>C)
c.321T>C
c.843T>C (p.Ala281=)
c.798T>C (p.Ala266=)
c.424+1242T>C
c.576T>C (p.Ala192=)
c.*653T>C (n.*653T>C)
Xg.48905150A>TCA516360141SLC35A2c.759T>A (p.Ala253=)
c.355-258T>A (n.355-258T>A)
c.427-258T>A (n.427-258T>A)
c.321T>A
c.843T>A (p.Ala281=)
c.798T>A (p.Ala266=)
c.424+1242T>A
c.576T>A (p.Ala192=)
c.*653T>A (n.*653T>A)
 ClinVar
Xg.48905151G>ACA412895279SLC35A2c.758C>T (p.Ala253Val)
c.355-259C>T (n.355-259C>T)
c.427-259C>T (n.427-259C>T)
c.320C>T
c.842C>T (p.Ala281Val)
c.797C>T (p.Ala266Val)
c.424+1241C>T
c.575C>T (p.Ala192Val)
c.*652C>T (n.*652C>T)
Xg.48905151G>CCA412895280SLC35A2c.758C>G (p.Ala253Gly)
c.355-259C>G (n.355-259C>G)
c.427-259C>G (n.427-259C>G)
c.320C>G
c.842C>G (p.Ala281Gly)
c.797C>G (p.Ala266Gly)
c.424+1241C>G
c.575C>G (p.Ala192Gly)
c.*652C>G (n.*652C>G)
Xg.48905151G>TCA412895281SLC35A2c.758C>A (p.Ala253Asp)
c.355-259C>A (n.355-259C>A)
c.427-259C>A (n.427-259C>A)
c.320C>A
c.842C>A (p.Ala281Asp)
c.797C>A (p.Ala266Asp)
c.424+1241C>A
c.575C>A (p.Ala192Asp)
c.*652C>A (n.*652C>A)
Xg.48905152C>ACA412895282SLC35A2c.757G>T (p.Ala253Ser)
c.355-260G>T (n.355-260G>T)
c.427-260G>T (n.427-260G>T)
c.319G>T
c.841G>T (p.Ala281Ser)
c.796G>T (p.Ala266Ser)
c.424+1240G>T
c.574G>T (p.Ala192Ser)
c.*651G>T (n.*651G>T)
Xg.48905152C>GCA412895283SLC35A2c.757G>C (p.Ala253Pro)
c.355-260G>C (n.355-260G>C)
c.427-260G>C (n.427-260G>C)
c.319G>C
c.841G>C (p.Ala281Pro)
c.796G>C (p.Ala266Pro)
c.424+1240G>C
c.574G>C (p.Ala192Pro)
c.*651G>C (n.*651G>C)
Xg.48905152C>TCA412895284SLC35A2c.757G>A (p.Ala253Thr)
c.355-260G>A (n.355-260G>A)
c.427-260G>A (n.427-260G>A)
c.319G>A
c.841G>A (p.Ala281Thr)
c.796G>A (p.Ala266Thr)
c.424+1240G>A
c.574G>A (p.Ala192Thr)
c.*651G>A (n.*651G>A)
 ClinVar gnomAD v4
Xg.48905160_48905170dupCA2573158995SLC35A2c.747_757dup (p.Ala253GlyfsTer?)
c.355-270_355-260dup (n.355-270_355-260dup)
c.427-270_427-260dup (n.427-270_427-260dup)
c.309_319dup
c.831_841dup (p.Ala281GlyfsTer?)
c.786_796dup (p.Ala266GlyfsTer?)
c.424+1230_424+1240dup
c.564_574dup (p.Ala192GlyfsTer?)
c.*641_*651dup (n.*641_*651dup)
 ClinVar dbSNP
Xg.48905153C>ACA412895285SLC35A2c.756G>T (p.Trp252Cys)
c.355-261G>T (n.355-261G>T)
c.427-261G>T (n.427-261G>T)
c.318G>T
c.840G>T (p.Trp280Cys)
c.795G>T (p.Trp265Cys)
c.424+1239G>T
c.573G>T (p.Trp191Cys)
c.*650G>T (n.*650G>T)
 COSMIC
Xg.48905153C>GCA412895286SLC35A2c.756G>C (p.Trp252Cys)
c.355-261G>C (n.355-261G>C)
c.427-261G>C (n.427-261G>C)
c.318G>C
c.840G>C (p.Trp280Cys)
c.795G>C (p.Trp265Cys)
c.424+1239G>C
c.573G>C (p.Trp191Cys)
c.*650G>C (n.*650G>C)
Xg.48905153C>TCA412895287SLC35A2c.756G>A (p.Trp252Ter)
c.355-261G>A (n.355-261G>A)
c.427-261G>A (n.427-261G>A)
c.318G>A
c.840G>A (p.Trp280Ter)
c.795G>A (p.Trp265Ter)
c.424+1239G>A
c.573G>A (p.Trp191Ter)
c.*650G>A (n.*650G>A)
Xg.48905154C>ACA412895290SLC35A2c.755G>T (p.Trp252Leu)
c.355-262G>T (n.355-262G>T)
c.427-262G>T (n.427-262G>T)
c.317G>T
c.839G>T (p.Trp280Leu)
c.794G>T (p.Trp265Leu)
c.424+1238G>T
c.572G>T (p.Trp191Leu)
c.*649G>T (n.*649G>T)
Xg.48905154C>GCA412895288SLC35A2c.755G>C (p.Trp252Ser)
c.355-262G>C (n.355-262G>C)
c.427-262G>C (n.427-262G>C)
c.317G>C
c.839G>C (p.Trp280Ser)
c.794G>C (p.Trp265Ser)
c.424+1238G>C
c.572G>C (p.Trp191Ser)
c.*649G>C (n.*649G>C)
Xg.48905154C>TCA412895289SLC35A2c.755G>A (p.Trp252Ter)
c.355-262G>A (n.355-262G>A)
c.427-262G>A (n.427-262G>A)
c.317G>A
c.839G>A (p.Trp280Ter)
c.794G>A (p.Trp265Ter)
c.424+1238G>A
c.572G>A (p.Trp191Ter)
c.*649G>A (n.*649G>A)
 ClinVar
Xg.48905155A>CCA412895291SLC35A2c.754T>G (p.Trp252Gly)
c.355-263T>G (n.355-263T>G)
c.427-263T>G (n.427-263T>G)
c.316T>G
c.838T>G (p.Trp280Gly)
c.793T>G (p.Trp265Gly)
c.424+1237T>G
c.571T>G (p.Trp191Gly)
c.*648T>G (n.*648T>G)
Xg.48905155A>GCA412895292SLC35A2c.754T>C (p.Trp252Arg)
c.355-263T>C (n.355-263T>C)
c.427-263T>C (n.427-263T>C)
c.316T>C
c.838T>C (p.Trp280Arg)
c.793T>C (p.Trp265Arg)
c.424+1237T>C
c.571T>C (p.Trp191Arg)
c.*648T>C (n.*648T>C)
Xg.48905155A>TCA412895293SLC35A2c.754T>A (p.Trp252Arg)
c.355-263T>A (n.355-263T>A)
c.427-263T>A (n.427-263T>A)
c.316T>A
c.838T>A (p.Trp280Arg)
c.793T>A (p.Trp265Arg)
c.424+1237T>A
c.571T>A (p.Trp191Arg)
c.*648T>A (n.*648T>A)
Xg.48905156C>ACA412895294SLC35A2c.753G>T (p.Trp251Cys)
c.355-264G>T (n.355-264G>T)
c.427-264G>T (n.427-264G>T)
c.315G>T
c.837G>T (p.Trp279Cys)
c.792G>T (p.Trp264Cys)
c.424+1236G>T
c.570G>T (p.Trp190Cys)
c.*647G>T (n.*647G>T)
Xg.48905156C>GCA412895295SLC35A2c.753G>C (p.Trp251Cys)
c.355-264G>C (n.355-264G>C)
c.427-264G>C (n.427-264G>C)
c.315G>C
c.837G>C (p.Trp279Cys)
c.792G>C (p.Trp264Cys)
c.424+1236G>C
c.570G>C (p.Trp190Cys)
c.*647G>C (n.*647G>C)
Xg.48905156C>TCA412895296SLC35A2c.753G>A (p.Trp251Ter)
c.355-264G>A (n.355-264G>A)
c.427-264G>A (n.427-264G>A)
c.315G>A
c.837G>A (p.Trp279Ter)
c.792G>A (p.Trp264Ter)
c.424+1236G>A
c.570G>A (p.Trp190Ter)
c.*647G>A (n.*647G>A)
Xg.48905157delCA2695233838SLC35A2c.753del (p.Trp251CysfsTer?)
c.355-264del (n.355-264del)
c.427-264del (n.427-264del)
c.315del
c.837del (p.Trp279CysfsTer?)
c.792del (p.Trp264CysfsTer?)
c.424+1236del
c.570del (p.Trp190CysfsTer?)
c.*647del (n.*647del)
Xg.48905157C>ACA412895297SLC35A2c.752G>T (p.Trp251Leu)
c.355-265G>T (n.355-265G>T)
c.427-265G>T (n.427-265G>T)
c.314G>T
c.836G>T (p.Trp279Leu)
c.791G>T (p.Trp264Leu)
c.424+1235G>T
c.569G>T (p.Trp190Leu)
c.*646G>T (n.*646G>T)
Xg.48905157C>GCA412895298SLC35A2c.752G>C (p.Trp251Ser)
c.355-265G>C (n.355-265G>C)
c.427-265G>C (n.427-265G>C)
c.314G>C
c.836G>C (p.Trp279Ser)
c.791G>C (p.Trp264Ser)
c.424+1235G>C
c.569G>C (p.Trp190Ser)
c.*646G>C (n.*646G>C)
Xg.48905157C>TCA412895299SLC35A2c.752G>A (p.Trp251Ter)
c.355-265G>A (n.355-265G>A)
c.427-265G>A (n.427-265G>A)
c.314G>A
c.836G>A (p.Trp279Ter)
c.791G>A (p.Trp264Ter)
c.424+1235G>A
c.569G>A (p.Trp190Ter)
c.*646G>A (n.*646G>A)
Xg.48905158A=CA2428428886SLC35A2c.751T= (p.Trp251=)
c.355-266T= (n.355-266T=)
c.427-266T= (n.427-266T=)
c.313T=
c.835T= (p.Trp279=)
c.790T= (p.Trp264=)
c.424+1234T=
c.568T= (p.Trp190=)
c.*645T= (n.*645T=)
Xg.48905158A>CCA412895300SLC35A2c.751T>G (p.Trp251Gly)
c.355-266T>G (n.355-266T>G)
c.427-266T>G (n.427-266T>G)
c.313T>G
c.835T>G (p.Trp279Gly)
c.790T>G (p.Trp264Gly)
c.424+1234T>G
c.568T>G (p.Trp190Gly)
c.*645T>G (n.*645T>G)
 dbSNP
Xg.48905158A>GCA412895301SLC35A2c.751T>C (p.Trp251Arg)
c.355-266T>C (n.355-266T>C)
c.427-266T>C (n.427-266T>C)
c.313T>C
c.835T>C (p.Trp279Arg)
c.790T>C (p.Trp264Arg)
c.424+1234T>C
c.568T>C (p.Trp190Arg)
c.*645T>C (n.*645T>C)
 gnomAD v4
Xg.48905158A>TCA412895302SLC35A2c.751T>A (p.Trp251Arg)
c.355-266T>A (n.355-266T>A)
c.427-266T>A (n.427-266T>A)
c.313T>A
c.835T>A (p.Trp279Arg)
c.790T>A (p.Trp264Arg)
c.424+1234T>A
c.568T>A (p.Trp190Arg)
c.*645T>A (n.*645T>A)
Xg.48905159G>ACA516360162SLC35A2c.750C>T (p.Leu250=)
c.355-267C>T (n.355-267C>T)
c.427-267C>T (n.427-267C>T)
c.312C>T
c.834C>T (p.Leu278=)
c.789C>T (p.Leu263=)
c.424+1233C>T
c.567C>T (p.Leu189=)
c.*644C>T (n.*644C>T)
Xg.48905159G>CCA10406100SLC35A2c.750C>G (p.Leu250=)
c.355-267C>G (n.355-267C>G)
c.427-267C>G (n.427-267C>G)
c.312C>G
c.834C>G (p.Leu278=)
c.789C>G (p.Leu263=)
c.424+1233C>G
c.567C>G (p.Leu189=)
c.*644C>G (n.*644C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.48905159G=CA2428428887SLC35A2c.750C= (p.Leu250=)
c.355-267C= (n.355-267C=)
c.427-267C= (n.427-267C=)
c.312C=
c.834C= (p.Leu278=)
c.789C= (p.Leu263=)
c.424+1233C=
c.567C= (p.Leu189=)
c.*644C= (n.*644C=)
Xg.48905159G>TCA516360163SLC35A2c.750C>A (p.Leu250=)
c.355-267C>A (n.355-267C>A)
c.427-267C>A (n.427-267C>A)
c.312C>A
c.834C>A (p.Leu278=)
c.789C>A (p.Leu263=)
c.424+1233C>A
c.567C>A (p.Leu189=)
c.*644C>A (n.*644C>A)
Xg.48905160A>CCA412895305SLC35A2c.749T>G (p.Leu250Arg)
c.355-268T>G (n.355-268T>G)
c.427-268T>G (n.427-268T>G)
c.311T>G
c.833T>G (p.Leu278Arg)
c.788T>G (p.Leu263Arg)
c.424+1232T>G
c.566T>G (p.Leu189Arg)
c.*643T>G (n.*643T>G)
Xg.48905160A>GCA412895303SLC35A2c.749T>C (p.Leu250Pro)
c.355-268T>C (n.355-268T>C)
c.427-268T>C (n.427-268T>C)
c.311T>C
c.833T>C (p.Leu278Pro)
c.788T>C (p.Leu263Pro)
c.424+1232T>C
c.566T>C (p.Leu189Pro)
c.*643T>C (n.*643T>C)
Xg.48905160A>TCA412895304SLC35A2c.749T>A (p.Leu250His)
c.355-268T>A (n.355-268T>A)
c.427-268T>A (n.427-268T>A)
c.311T>A
c.833T>A (p.Leu278His)
c.788T>A (p.Leu263His)
c.424+1232T>A
c.566T>A (p.Leu189His)
c.*643T>A (n.*643T>A)
Xg.48905161G>ACA412895306SLC35A2c.748C>T (p.Leu250Phe)
c.355-269C>T (n.355-269C>T)
c.427-269C>T (n.427-269C>T)
c.310C>T
c.832C>T (p.Leu278Phe)
c.787C>T (p.Leu263Phe)
c.424+1231C>T
c.565C>T (p.Leu189Phe)
c.*642C>T (n.*642C>T)
 gnomAD v4
Xg.48905161G>CCA412895307SLC35A2c.748C>G (p.Leu250Val)
c.355-269C>G (n.355-269C>G)
c.427-269C>G (n.427-269C>G)
c.310C>G
c.832C>G (p.Leu278Val)
c.787C>G (p.Leu263Val)
c.424+1231C>G
c.565C>G (p.Leu189Val)
c.*642C>G (n.*642C>G)
Xg.48905161G>TCA412895308SLC35A2c.748C>A (p.Leu250Ile)
c.355-269C>A (n.355-269C>A)
c.427-269C>A (n.427-269C>A)
c.310C>A
c.832C>A (p.Leu278Ile)
c.787C>A (p.Leu263Ile)
c.424+1231C>A
c.565C>A (p.Leu189Ile)
c.*642C>A (n.*642C>A)
Xg.48905162C>ACA10406101SLC35A2c.747G>T (p.Gly249=)
c.355-270G>T (n.355-270G>T)
c.427-270G>T (n.427-270G>T)
c.309G>T
c.831G>T (p.Gly277=)
c.786G>T (p.Gly262=)
c.424+1230G>T
c.564G>T (p.Gly188=)
c.*641G>T (n.*641G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905162C=CA2428428888SLC35A2c.747G= (p.Gly249=)
c.355-270G= (n.355-270G=)
c.427-270G= (n.427-270G=)
c.309G=
c.831G= (p.Gly277=)
c.786G= (p.Gly262=)
c.424+1230G=
c.564G= (p.Gly188=)
c.*641G= (n.*641G=)
Xg.48905162C>GCA516360172SLC35A2c.747G>C (p.Gly249=)
c.355-270G>C (n.355-270G>C)
c.427-270G>C (n.427-270G>C)
c.309G>C
c.831G>C (p.Gly277=)
c.786G>C (p.Gly262=)
c.424+1230G>C
c.564G>C (p.Gly188=)
c.*641G>C (n.*641G>C)
Xg.48905162C>TCA10406102SLC35A2c.747G>A (p.Gly249=)
c.355-270G>A (n.355-270G>A)
c.427-270G>A (n.427-270G>A)
c.309G>A
c.831G>A (p.Gly277=)
c.786G>A (p.Gly262=)
c.424+1230G>A
c.564G>A (p.Gly188=)
c.*641G>A (n.*641G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905163C>ACA412895309SLC35A2c.746G>T (p.Gly249Val)
c.355-271G>T (n.355-271G>T)
c.427-271G>T (n.427-271G>T)
c.308G>T
c.830G>T (p.Gly277Val)
c.785G>T (p.Gly262Val)
c.424+1229G>T
c.563G>T (p.Gly188Val)
c.*640G>T (n.*640G>T)
Xg.48905163C>GCA412895310SLC35A2c.746G>C (p.Gly249Ala)
c.355-271G>C (n.355-271G>C)
c.427-271G>C (n.427-271G>C)
c.308G>C
c.830G>C (p.Gly277Ala)
c.785G>C (p.Gly262Ala)
c.424+1229G>C
c.563G>C (p.Gly188Ala)
c.*640G>C (n.*640G>C)
Xg.48905163C>TCA412895311SLC35A2c.746G>A (p.Gly249Glu)
c.355-271G>A (n.355-271G>A)
c.427-271G>A (n.427-271G>A)
c.308G>A
c.830G>A (p.Gly277Glu)
c.785G>A (p.Gly262Glu)
c.424+1229G>A
c.563G>A (p.Gly188Glu)
c.*640G>A (n.*640G>A)
Xg.48905164C>ACA412895312SLC35A2c.745G>T (p.Gly249Trp)
c.355-272G>T (n.355-272G>T)
c.427-272G>T (n.427-272G>T)
c.307G>T
c.829G>T (p.Gly277Trp)
c.784G>T (p.Gly262Trp)
c.424+1228G>T
c.562G>T (p.Gly188Trp)
c.*639G>T (n.*639G>T)
Xg.48905164C>GCA412895313SLC35A2c.745G>C (p.Gly249Arg)
c.355-272G>C (n.355-272G>C)
c.427-272G>C (n.427-272G>C)
c.307G>C
c.829G>C (p.Gly277Arg)
c.784G>C (p.Gly262Arg)
c.424+1228G>C
c.562G>C (p.Gly188Arg)
c.*639G>C (n.*639G>C)
Xg.48905164C>TCA412895314SLC35A2c.745G>A (p.Gly249Arg)
c.355-272G>A (n.355-272G>A)
c.427-272G>A (n.427-272G>A)
c.307G>A
c.829G>A (p.Gly277Arg)
c.784G>A (p.Gly262Arg)
c.424+1228G>A
c.562G>A (p.Gly188Arg)
c.*639G>A (n.*639G>A)
Xg.48905165C>ACA516360180SLC35A2c.744G>T (p.Val248=)
c.355-273G>T (n.355-273G>T)
c.427-273G>T (n.427-273G>T)
c.306G>T
c.828G>T (p.Val276=)
c.783G>T (p.Val261=)
c.424+1227G>T
c.561G>T (p.Val187=)
c.*638G>T (n.*638G>T)
Xg.48905165C>GCA516360181SLC35A2c.744G>C (p.Val248=)
c.355-273G>C (n.355-273G>C)
c.427-273G>C (n.427-273G>C)
c.306G>C
c.828G>C (p.Val276=)
c.783G>C (p.Val261=)
c.424+1227G>C
c.561G>C (p.Val187=)
c.*638G>C (n.*638G>C)
Xg.48905165C>TCA516360182SLC35A2c.744G>A (p.Val248=)
c.355-273G>A (n.355-273G>A)
c.427-273G>A (n.427-273G>A)
c.306G>A
c.828G>A (p.Val276=)
c.783G>A (p.Val261=)
c.424+1227G>A
c.561G>A (p.Val187=)
c.*638G>A (n.*638G>A)
Xg.48905166A>CCA412895317SLC35A2c.743T>G (p.Val248Gly)
c.355-274T>G (n.355-274T>G)
c.427-274T>G (n.427-274T>G)
c.305T>G
c.527T>G
c.827T>G (p.Val276Gly)
c.782T>G (p.Val261Gly)
c.424+1226T>G
c.560T>G (p.Val187Gly)
c.*637T>G (n.*637T>G)
Xg.48905166A>GCA412895316SLC35A2c.743T>C (p.Val248Ala)
c.355-274T>C (n.355-274T>C)
c.427-274T>C (n.427-274T>C)
c.305T>C
c.527T>C
c.827T>C (p.Val276Ala)
c.782T>C (p.Val261Ala)
c.424+1226T>C
c.560T>C (p.Val187Ala)
c.*637T>C (n.*637T>C)
Xg.48905166A>TCA412895315SLC35A2c.743T>A (p.Val248Glu)
c.355-274T>A (n.355-274T>A)
c.427-274T>A (n.427-274T>A)
c.305T>A
c.527T>A
c.827T>A (p.Val276Glu)
c.782T>A (p.Val261Glu)
c.424+1226T>A
c.560T>A (p.Val187Glu)
c.*637T>A (n.*637T>A)
Xg.48905167C>ACA412895318SLC35A2c.742G>T (p.Val248Leu)
c.355-275G>T (n.355-275G>T)
c.427-275G>T (n.427-275G>T)
c.304G>T
c.526G>T
c.826G>T (p.Val276Leu)
c.781G>T (p.Val261Leu)
c.424+1225G>T
c.559G>T (p.Val187Leu)
c.*636G>T (n.*636G>T)
Xg.48905167C>GCA412895319SLC35A2c.742G>C (p.Val248Leu)
c.355-275G>C (n.355-275G>C)
c.427-275G>C (n.427-275G>C)
c.304G>C
c.526G>C
c.826G>C (p.Val276Leu)
c.781G>C (p.Val261Leu)
c.424+1225G>C
c.559G>C (p.Val187Leu)
c.*636G>C (n.*636G>C)
Xg.48905167C>TCA412895320SLC35A2c.742G>A (p.Val248Met)
c.355-275G>A (n.355-275G>A)
c.427-275G>A (n.427-275G>A)
c.304G>A
c.526G>A
c.826G>A (p.Val276Met)
c.781G>A (p.Val261Met)
c.424+1225G>A
c.559G>A (p.Val187Met)
c.*636G>A (n.*636G>A)
Xg.48905168C>ACA516359987SLC35A2c.741G>T (p.Leu247=)
c.355-276G>T (n.355-276G>T)
c.427-276G>T (n.427-276G>T)
c.303G>T
c.525G>T (p.Leu175=)
c.825G>T (p.Leu275=)
c.780G>T (p.Leu260=)
c.424+1224G>T
c.558G>T (p.Leu186=)
c.*635G>T (n.*635G>T)
Xg.48905168C>GCA516359988SLC35A2c.741G>C (p.Leu247=)
c.355-276G>C (n.355-276G>C)
c.427-276G>C (n.427-276G>C)
c.303G>C
c.525G>C (p.Leu175=)
c.825G>C (p.Leu275=)
c.780G>C (p.Leu260=)
c.424+1224G>C
c.558G>C (p.Leu186=)
c.*635G>C (n.*635G>C)
Xg.48905168C>TCA516359989SLC35A2c.741G>A (p.Leu247=)
c.355-276G>A (n.355-276G>A)
c.427-276G>A (n.427-276G>A)
c.303G>A
c.525G>A (p.Leu175=)
c.825G>A (p.Leu275=)
c.780G>A (p.Leu260=)
c.424+1224G>A
c.558G>A (p.Leu186=)
c.*635G>A (n.*635G>A)
Xg.48905169A>CCA412895321SLC35A2c.740T>G (p.Leu247Arg)
c.355-277T>G (n.355-277T>G)
c.427-277T>G (n.427-277T>G)
c.302T>G
c.524T>G (p.Leu175Arg)
c.824T>G (p.Leu275Arg)
c.779T>G (p.Leu260Arg)
c.424+1223T>G
c.557T>G (p.Leu186Arg)
c.*634T>G (n.*634T>G)
Xg.48905169A>GCA412895322SLC35A2c.740T>C (p.Leu247Pro)
c.355-277T>C (n.355-277T>C)
c.427-277T>C (n.427-277T>C)
c.302T>C
c.524T>C (p.Leu175Pro)
c.824T>C (p.Leu275Pro)
c.779T>C (p.Leu260Pro)
c.424+1223T>C
c.557T>C (p.Leu186Pro)
c.*634T>C (n.*634T>C)
Xg.48905169A>TCA412895323SLC35A2c.740T>A (p.Leu247Gln)
c.355-277T>A (n.355-277T>A)
c.427-277T>A (n.427-277T>A)
c.302T>A
c.524T>A (p.Leu175Gln)
c.824T>A (p.Leu275Gln)
c.779T>A (p.Leu260Gln)
c.424+1223T>A
c.557T>A (p.Leu186Gln)
c.*634T>A (n.*634T>A)
Xg.48905170G>ACA516359992SLC35A2c.739C>T (p.Leu247=)
c.355-278C>T (n.355-278C>T)
c.427-278C>T (n.427-278C>T)
c.301C>T
c.523C>T (p.Leu175=)
c.823C>T (p.Leu275=)
c.778C>T (p.Leu260=)
c.424+1222C>T
c.556C>T (p.Leu186=)
c.*633C>T (n.*633C>T)
Xg.48905170G>CCA412895324SLC35A2c.739C>G (p.Leu247Val)
c.355-278C>G (n.355-278C>G)
c.427-278C>G (n.427-278C>G)
c.301C>G
c.523C>G (p.Leu175Val)
c.823C>G (p.Leu275Val)
c.778C>G (p.Leu260Val)
c.424+1222C>G
c.556C>G (p.Leu186Val)
c.*633C>G (n.*633C>G)
Xg.48905170G>TCA412895325SLC35A2c.739C>A (p.Leu247Met)
c.355-278C>A (n.355-278C>A)
c.427-278C>A (n.427-278C>A)
c.301C>A
c.523C>A (p.Leu175Met)
c.823C>A (p.Leu275Met)
c.778C>A (p.Leu260Met)
c.424+1222C>A
c.556C>A (p.Leu186Met)
c.*633C>A (n.*633C>A)
Xg.48905171G>ACA516359993SLC35A2c.738C>T (p.Gly246=)
c.355-279C>T (n.355-279C>T)
c.427-279C>T (n.427-279C>T)
c.300C>T
c.522C>T (p.Gly174=)
c.822C>T (p.Gly274=)
c.777C>T (p.Gly259=)
c.424+1221C>T
c.555C>T (p.Gly185=)
c.*632C>T (n.*632C>T)
Xg.48905171G>CCA516359994SLC35A2c.738C>G (p.Gly246=)
c.355-279C>G (n.355-279C>G)
c.427-279C>G (n.427-279C>G)
c.300C>G
c.522C>G (p.Gly174=)
c.822C>G (p.Gly274=)
c.777C>G (p.Gly259=)
c.424+1221C>G
c.555C>G (p.Gly185=)
c.*632C>G (n.*632C>G)
Xg.48905171G>TCA516359995SLC35A2c.738C>A (p.Gly246=)
c.355-279C>A (n.355-279C>A)
c.427-279C>A (n.427-279C>A)
c.300C>A
c.522C>A (p.Gly174=)
c.822C>A (p.Gly274=)
c.777C>A (p.Gly259=)
c.424+1221C>A
c.555C>A (p.Gly185=)
c.*632C>A (n.*632C>A)
Xg.48905172C>ACA412895326SLC35A2c.737G>T (p.Gly246Val)
c.355-280G>T (n.355-280G>T)
c.427-280G>T (n.427-280G>T)
c.299G>T
c.521G>T (p.Gly174Val)
c.821G>T (p.Gly274Val)
c.776G>T (p.Gly259Val)
c.424+1220G>T
c.554G>T (p.Gly185Val)
c.*631G>T (n.*631G>T)
Xg.48905172C>GCA412895327SLC35A2c.737G>C (p.Gly246Ala)
c.355-280G>C (n.355-280G>C)
c.427-280G>C (n.427-280G>C)
c.299G>C
c.521G>C (p.Gly174Ala)
c.821G>C (p.Gly274Ala)
c.776G>C (p.Gly259Ala)
c.424+1220G>C
c.554G>C (p.Gly185Ala)
c.*631G>C (n.*631G>C)
Xg.48905172C>TCA412895328SLC35A2c.737G>A (p.Gly246Asp)
c.355-280G>A (n.355-280G>A)
c.427-280G>A (n.427-280G>A)
c.299G>A
c.521G>A (p.Gly174Asp)
c.821G>A (p.Gly274Asp)
c.776G>A (p.Gly259Asp)
c.424+1220G>A
c.554G>A (p.Gly185Asp)
c.*631G>A (n.*631G>A)
 gnomAD v4
Xg.48905173C>ACA412895329SLC35A2c.736G>T (p.Gly246Cys)
c.355-281G>T (n.355-281G>T)
c.427-281G>T (n.427-281G>T)
c.298G>T
c.520G>T (p.Gly174Cys)
c.820G>T (p.Gly274Cys)
c.775G>T (p.Gly259Cys)
c.424+1219G>T
c.553G>T (p.Gly185Cys)
c.*630G>T (n.*630G>T)
Xg.48905173C>GCA412895330SLC35A2c.736G>C (p.Gly246Arg)
c.355-281G>C (n.355-281G>C)
c.427-281G>C (n.427-281G>C)
c.298G>C
c.520G>C (p.Gly174Arg)
c.820G>C (p.Gly274Arg)
c.775G>C (p.Gly259Arg)
c.424+1219G>C
c.553G>C (p.Gly185Arg)
c.*630G>C (n.*630G>C)
Xg.48905173C>TCA412895331SLC35A2c.736G>A (p.Gly246Ser)
c.355-281G>A (n.355-281G>A)
c.427-281G>A (n.427-281G>A)
c.298G>A
c.520G>A (p.Gly174Ser)
c.820G>A (p.Gly274Ser)
c.775G>A (p.Gly259Ser)
c.424+1219G>A
c.553G>A (p.Gly185Ser)
c.*630G>A (n.*630G>A)
Xg.48905174C>ACA516359999SLC35A2c.735G>T (p.Leu245=)
c.355-282G>T (n.355-282G>T)
c.427-282G>T (n.427-282G>T)
c.297G>T
c.519G>T (p.Leu173=)
c.819G>T (p.Leu273=)
c.774G>T (p.Leu258=)
c.424+1218G>T
c.552G>T (p.Leu184=)
c.*629G>T (n.*629G>T)
Xg.48905174C>GCA516360001SLC35A2c.735G>C (p.Leu245=)
c.355-282G>C (n.355-282G>C)
c.427-282G>C (n.427-282G>C)
c.297G>C
c.519G>C (p.Leu173=)
c.819G>C (p.Leu273=)
c.774G>C (p.Leu258=)
c.424+1218G>C
c.552G>C (p.Leu184=)
c.*629G>C (n.*629G>C)
Xg.48905174C>TCA516360000SLC35A2c.735G>A (p.Leu245=)
c.355-282G>A (n.355-282G>A)
c.427-282G>A (n.427-282G>A)
c.297G>A
c.519G>A (p.Leu173=)
c.819G>A (p.Leu273=)
c.774G>A (p.Leu258=)
c.424+1218G>A
c.552G>A (p.Leu184=)
c.*629G>A (n.*629G>A)
 gnomAD v4
Xg.48905175A>CCA412895333SLC35A2c.734T>G (p.Leu245Arg)
c.355-283T>G (n.355-283T>G)
c.427-283T>G (n.427-283T>G)
c.296T>G
c.518T>G (p.Leu173Arg)
c.818T>G (p.Leu273Arg)
c.773T>G (p.Leu258Arg)
c.424+1217T>G
c.551T>G (p.Leu184Arg)
c.*628T>G (n.*628T>G)
Xg.48905175A>GCA412895334SLC35A2c.734T>C (p.Leu245Pro)
c.355-283T>C (n.355-283T>C)
c.427-283T>C (n.427-283T>C)
c.296T>C
c.518T>C (p.Leu173Pro)
c.818T>C (p.Leu273Pro)
c.773T>C (p.Leu258Pro)
c.424+1217T>C
c.551T>C (p.Leu184Pro)
c.*628T>C (n.*628T>C)
Xg.48905175A>TCA412895332SLC35A2c.734T>A (p.Leu245Gln)
c.355-283T>A (n.355-283T>A)
c.427-283T>A (n.427-283T>A)
c.296T>A
c.518T>A (p.Leu173Gln)
c.818T>A (p.Leu273Gln)
c.773T>A (p.Leu258Gln)
c.424+1217T>A
c.551T>A (p.Leu184Gln)
c.*628T>A (n.*628T>A)
Xg.48905176G>ACA516360002SLC35A2c.733C>T (p.Leu245=)
c.355-284C>T (n.355-284C>T)
c.427-284C>T (n.427-284C>T)
c.295C>T
c.517C>T (p.Leu173=)
c.817C>T (p.Leu273=)
c.772C>T (p.Leu258=)
c.424+1216C>T
c.550C>T (p.Leu184=)
c.*627C>T (n.*627C>T)
Xg.48905176G>CCA412895335SLC35A2c.733C>G (p.Leu245Val)
c.355-284C>G (n.355-284C>G)
c.427-284C>G (n.427-284C>G)
c.295C>G
c.517C>G (p.Leu173Val)
c.817C>G (p.Leu273Val)
c.772C>G (p.Leu258Val)
c.424+1216C>G
c.550C>G (p.Leu184Val)
c.*627C>G (n.*627C>G)
Xg.48905176G>TCA412895336SLC35A2c.733C>A (p.Leu245Met)
c.355-284C>A (n.355-284C>A)
c.427-284C>A (n.427-284C>A)
c.295C>A
c.517C>A (p.Leu173Met)
c.817C>A (p.Leu273Met)
c.772C>A (p.Leu258Met)
c.424+1216C>A
c.550C>A (p.Leu184Met)
c.*627C>A (n.*627C>A)
Xg.48905177T>ACA516360003SLC35A2c.732A>T (p.Ala244=)
c.355-285A>T (n.355-285A>T)
c.427-285A>T (n.427-285A>T)
c.294A>T
c.516A>T (p.Ala172=)
c.816A>T (p.Ala272=)
c.771A>T (p.Ala257=)
c.424+1215A>T
c.549A>T (p.Ala183=)
c.*626A>T (n.*626A>T)
Xg.48905177T>CCA516360004SLC35A2c.732A>G (p.Ala244=)
c.355-285A>G (n.355-285A>G)
c.427-285A>G (n.427-285A>G)
c.294A>G
c.516A>G (p.Ala172=)
c.816A>G (p.Ala272=)
c.771A>G (p.Ala257=)
c.424+1215A>G
c.549A>G (p.Ala183=)
c.*626A>G (n.*626A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.48905177T>GCA516360005SLC35A2c.732A>C (p.Ala244=)
c.355-285A>C (n.355-285A>C)
c.427-285A>C (n.427-285A>C)
c.294A>C
c.516A>C (p.Ala172=)
c.816A>C (p.Ala272=)
c.771A>C (p.Ala257=)
c.424+1215A>C
c.549A>C (p.Ala183=)
c.*626A>C (n.*626A>C)
Xg.48905177T=CA2428428889SLC35A2c.732A= (p.Ala244=)
c.355-285A= (n.355-285A=)
c.427-285A= (n.427-285A=)
c.294A=
c.516A= (p.Ala172=)
c.816A= (p.Ala272=)
c.771A= (p.Ala257=)
c.424+1215A=
c.549A= (p.Ala183=)
c.*626A= (n.*626A=)
Xg.48905178G>ACA412895337SLC35A2c.731C>T (p.Ala244Val)
c.355-286C>T (n.355-286C>T)
c.427-286C>T (n.427-286C>T)
c.293C>T
c.515C>T (p.Ala172Val)
c.815C>T (p.Ala272Val)
c.770C>T (p.Ala257Val)
c.424+1214C>T
c.548C>T (p.Ala183Val)
c.*625C>T (n.*625C>T)
 dbSNP
Xg.48905178G>CCA412895338SLC35A2c.731C>G (p.Ala244Gly)
c.355-286C>G (n.355-286C>G)
c.427-286C>G (n.427-286C>G)
c.293C>G
c.515C>G (p.Ala172Gly)
c.815C>G (p.Ala272Gly)
c.770C>G (p.Ala257Gly)
c.424+1214C>G
c.548C>G (p.Ala183Gly)
c.*625C>G (n.*625C>G)
Xg.48905178G=CA2428428890SLC35A2c.731C= (p.Ala244=)
c.355-286C= (n.355-286C=)
c.427-286C= (n.427-286C=)
c.293C=
c.515C= (p.Ala172=)
c.815C= (p.Ala272=)
c.770C= (p.Ala257=)
c.424+1214C=
c.548C= (p.Ala183=)
c.*625C= (n.*625C=)
Xg.48905178G>TCA412895339SLC35A2c.731C>A (p.Ala244Glu)
c.355-286C>A (n.355-286C>A)
c.427-286C>A (n.427-286C>A)
c.293C>A
c.515C>A (p.Ala172Glu)
c.815C>A (p.Ala272Glu)
c.770C>A (p.Ala257Glu)
c.424+1214C>A
c.548C>A (p.Ala183Glu)
c.*625C>A (n.*625C>A)
Xg.48905179C>ACA412895340SLC35A2c.730G>T (p.Ala244Ser)
c.355-287G>T (n.355-287G>T)
c.427-287G>T (n.427-287G>T)
c.292G>T
c.514G>T (p.Ala172Ser)
c.814G>T (p.Ala272Ser)
c.769G>T (p.Ala257Ser)
c.424+1213G>T
c.547G>T (p.Ala183Ser)
c.*624G>T (n.*624G>T)
Xg.48905179C>GCA412895341SLC35A2c.730G>C (p.Ala244Pro)
c.355-287G>C (n.355-287G>C)
c.427-287G>C (n.427-287G>C)
c.292G>C
c.514G>C (p.Ala172Pro)
c.814G>C (p.Ala272Pro)
c.769G>C (p.Ala257Pro)
c.424+1213G>C
c.547G>C (p.Ala183Pro)
c.*624G>C (n.*624G>C)
Xg.48905179C>TCA412895342SLC35A2c.730G>A (p.Ala244Thr)
c.355-287G>A (n.355-287G>A)
c.427-287G>A (n.427-287G>A)
c.292G>A
c.514G>A (p.Ala172Thr)
c.814G>A (p.Ala272Thr)
c.769G>A (p.Ala257Thr)
c.424+1213G>A
c.547G>A (p.Ala183Thr)
c.*624G>A (n.*624G>A)
Xg.48905180T>ACA516360009SLC35A2c.729A>T (p.Thr243=)
c.355-288A>T (n.355-288A>T)
c.427-288A>T (n.427-288A>T)
c.291A>T
c.513A>T (p.Thr171=)
c.813A>T (p.Thr271=)
c.768A>T (p.Thr256=)
c.424+1212A>T
c.546A>T (p.Thr182=)
c.*623A>T (n.*623A>T)
Xg.48905180T>CCA10406103SLC35A2c.729A>G (p.Thr243=)
c.355-288A>G (n.355-288A>G)
c.427-288A>G (n.427-288A>G)
c.291A>G
c.513A>G (p.Thr171=)
c.813A>G (p.Thr271=)
c.768A>G (p.Thr256=)
c.424+1212A>G
c.546A>G (p.Thr182=)
c.*623A>G (n.*623A>G)
 dbSNP ExAC gnomAD v4
Xg.48905180T>GCA516360010SLC35A2c.729A>C (p.Thr243=)
c.355-288A>C (n.355-288A>C)
c.427-288A>C (n.427-288A>C)
c.291A>C
c.513A>C (p.Thr171=)
c.813A>C (p.Thr271=)
c.768A>C (p.Thr256=)
c.424+1212A>C
c.546A>C (p.Thr182=)
c.*623A>C (n.*623A>C)
Xg.48905180T=CA2428428891SLC35A2c.729A= (p.Thr243=)
c.355-288A= (n.355-288A=)
c.427-288A= (n.427-288A=)
c.291A=
c.513A= (p.Thr171=)
c.813A= (p.Thr271=)
c.768A= (p.Thr256=)
c.424+1212A=
c.546A= (p.Thr182=)
c.*623A= (n.*623A=)
Xg.48905181G>ACA412895343SLC35A2c.728C>T (p.Thr243Ile)
c.355-289C>T (n.355-289C>T)
c.427-289C>T (n.427-289C>T)
c.290C>T
c.512C>T (p.Thr171Ile)
c.812C>T (p.Thr271Ile)
c.767C>T (p.Thr256Ile)
c.424+1211C>T
c.545C>T (p.Thr182Ile)
c.*622C>T (n.*622C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905181G>CCA412895344SLC35A2c.728C>G (p.Thr243Arg)
c.355-289C>G (n.355-289C>G)
c.427-289C>G (n.427-289C>G)
c.290C>G
c.512C>G (p.Thr171Arg)
c.812C>G (p.Thr271Arg)
c.767C>G (p.Thr256Arg)
c.424+1211C>G
c.545C>G (p.Thr182Arg)
c.*622C>G (n.*622C>G)
Xg.48905181G=CA2428428892SLC35A2c.728C= (p.Thr243=)
c.355-289C= (n.355-289C=)
c.427-289C= (n.427-289C=)
c.290C=
c.512C= (p.Thr171=)
c.812C= (p.Thr271=)
c.767C= (p.Thr256=)
c.424+1211C=
c.545C= (p.Thr182=)
c.*622C= (n.*622C=)
Xg.48905181G>TCA412895345SLC35A2c.728C>A (p.Thr243Lys)
c.355-289C>A (n.355-289C>A)
c.427-289C>A (n.427-289C>A)
c.290C>A
c.512C>A (p.Thr171Lys)
c.812C>A (p.Thr271Lys)
c.767C>A (p.Thr256Lys)
c.424+1211C>A
c.545C>A (p.Thr182Lys)
c.*622C>A (n.*622C>A)
Xg.48905182T>ACA412895348SLC35A2c.727A>T (p.Thr243Ser)
c.355-290A>T (n.355-290A>T)
c.427-290A>T (n.427-290A>T)
c.289A>T
c.511A>T (p.Thr171Ser)
c.811A>T (p.Thr271Ser)
c.766A>T (p.Thr256Ser)
c.424+1210A>T
c.544A>T (p.Thr182Ser)
c.*621A>T (n.*621A>T)
Xg.48905182T>CCA412895346SLC35A2c.727A>G (p.Thr243Ala)
c.355-290A>G (n.355-290A>G)
c.427-290A>G (n.427-290A>G)
c.289A>G
c.511A>G (p.Thr171Ala)
c.811A>G (p.Thr271Ala)
c.766A>G (p.Thr256Ala)
c.424+1210A>G
c.544A>G (p.Thr182Ala)
c.*621A>G (n.*621A>G)
Xg.48905182T>GCA412895347SLC35A2c.727A>C (p.Thr243Pro)
c.355-290A>C (n.355-290A>C)
c.427-290A>C (n.427-290A>C)
c.289A>C
c.511A>C (p.Thr171Pro)
c.811A>C (p.Thr271Pro)
c.766A>C (p.Thr256Pro)
c.424+1210A>C
c.544A>C (p.Thr182Pro)
c.*621A>C (n.*621A>C)
Xg.48905183G>ACA516360013SLC35A2c.726C>T (p.Gly242=)
c.355-291C>T (n.355-291C>T)
c.427-291C>T (n.427-291C>T)
c.288C>T
c.510C>T (p.Gly170=)
c.810C>T (p.Gly270=)
c.765C>T (p.Gly255=)
c.424+1209C>T
c.543C>T (p.Gly181=)
c.*620C>T (n.*620C>T)
Xg.48905183G>CCA516360014SLC35A2c.726C>G (p.Gly242=)
c.355-291C>G (n.355-291C>G)
c.427-291C>G (n.427-291C>G)
c.288C>G
c.510C>G (p.Gly170=)
c.810C>G (p.Gly270=)
c.765C>G (p.Gly255=)
c.424+1209C>G
c.543C>G (p.Gly181=)
c.*620C>G (n.*620C>G)
Xg.48905183G>TCA516360015SLC35A2c.726C>A (p.Gly242=)
c.355-291C>A (n.355-291C>A)
c.427-291C>A (n.427-291C>A)
c.288C>A
c.510C>A (p.Gly170=)
c.810C>A (p.Gly270=)
c.765C>A (p.Gly255=)
c.424+1209C>A
c.543C>A (p.Gly181=)
c.*620C>A (n.*620C>A)
Xg.48905184C>ACA412895349SLC35A2c.725G>T (p.Gly242Val)
c.355-292G>T (n.355-292G>T)
c.427-292G>T (n.427-292G>T)
c.287G>T
c.509G>T (p.Gly170Val)
c.809G>T (p.Gly270Val)
c.764G>T (p.Gly255Val)
c.424+1208G>T
c.542G>T (p.Gly181Val)
c.*619G>T (n.*619G>T)
Xg.48905184C>GCA412895350SLC35A2c.725G>C (p.Gly242Ala)
c.355-292G>C (n.355-292G>C)
c.427-292G>C (n.427-292G>C)
c.287G>C
c.509G>C (p.Gly170Ala)
c.809G>C (p.Gly270Ala)
c.764G>C (p.Gly255Ala)
c.424+1208G>C
c.542G>C (p.Gly181Ala)
c.*619G>C (n.*619G>C)
Xg.48905184C>TCA412895351SLC35A2c.725G>A (p.Gly242Asp)
c.355-292G>A (n.355-292G>A)
c.427-292G>A (n.427-292G>A)
c.287G>A
c.509G>A (p.Gly170Asp)
c.809G>A (p.Gly270Asp)
c.764G>A (p.Gly255Asp)
c.424+1208G>A
c.542G>A (p.Gly181Asp)
c.*619G>A (n.*619G>A)
Xg.48905185C>ACA412895352SLC35A2c.724G>T (p.Gly242Cys)
c.355-293G>T (n.355-293G>T)
c.427-293G>T (n.427-293G>T)
c.286G>T
c.508G>T (p.Gly170Cys)
c.808G>T (p.Gly270Cys)
c.763G>T (p.Gly255Cys)
c.424+1207G>T
c.541G>T (p.Gly181Cys)
c.*618G>T (n.*618G>T)
 gnomAD v4
Xg.48905185C=CA2428428893SLC35A2c.724G= (p.Gly242=)
c.355-293G= (n.355-293G=)
c.427-293G= (n.427-293G=)
c.286G=
c.508G= (p.Gly170=)
c.808G= (p.Gly270=)
c.763G= (p.Gly255=)
c.424+1207G=
c.541G= (p.Gly181=)
c.*618G= (n.*618G=)
Xg.48905185C>GCA412895353SLC35A2c.724G>C (p.Gly242Arg)
c.355-293G>C (n.355-293G>C)
c.427-293G>C (n.427-293G>C)
c.286G>C
c.508G>C (p.Gly170Arg)
c.808G>C (p.Gly270Arg)
c.763G>C (p.Gly255Arg)
c.424+1207G>C
c.541G>C (p.Gly181Arg)
c.*618G>C (n.*618G>C)
Xg.48905185C>TCA412895354SLC35A2c.724G>A (p.Gly242Ser)
c.355-293G>A (n.355-293G>A)
c.427-293G>A (n.427-293G>A)
c.286G>A
c.508G>A (p.Gly170Ser)
c.808G>A (p.Gly270Ser)
c.763G>A (p.Gly255Ser)
c.424+1207G>A
c.541G>A (p.Gly181Ser)
c.*618G>A (n.*618G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905186G>ACA329098890SLC35A2c.723C>T (p.Phe241=)
c.355-294C>T (n.355-294C>T)
c.427-294C>T (n.427-294C>T)
c.285C>T
c.507C>T (p.Phe169=)
c.807C>T (p.Phe269=)
c.762C>T (p.Phe254=)
c.424+1206C>T
c.540C>T (p.Phe180=)
c.*617C>T (n.*617C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.48905186G>CCA412895355SLC35A2c.723C>G (p.Phe241Leu)
c.355-294C>G (n.355-294C>G)
c.427-294C>G (n.427-294C>G)
c.285C>G
c.507C>G (p.Phe169Leu)
c.807C>G (p.Phe269Leu)
c.762C>G (p.Phe254Leu)
c.424+1206C>G
c.540C>G (p.Phe180Leu)
c.*617C>G (n.*617C>G)
Xg.48905186G=CA2428428894SLC35A2c.723C= (p.Phe241=)
c.355-294C= (n.355-294C=)
c.427-294C= (n.427-294C=)
c.285C=
c.507C= (p.Phe169=)
c.807C= (p.Phe269=)
c.762C= (p.Phe254=)
c.424+1206C=
c.540C= (p.Phe180=)
c.*617C= (n.*617C=)
Xg.48905186G>TCA412895356SLC35A2c.723C>A (p.Phe241Leu)
c.355-294C>A (n.355-294C>A)
c.427-294C>A (n.427-294C>A)
c.285C>A
c.507C>A (p.Phe169Leu)
c.807C>A (p.Phe269Leu)
c.762C>A (p.Phe254Leu)
c.424+1206C>A
c.540C>A (p.Phe180Leu)
c.*617C>A (n.*617C>A)
Xg.48905187A>CCA412895357SLC35A2c.722T>G (p.Phe241Cys)
c.355-295T>G (n.355-295T>G)
c.427-295T>G (n.427-295T>G)
c.284T>G
c.506T>G (p.Phe169Cys)
c.806T>G (p.Phe269Cys)
c.761T>G (p.Phe254Cys)
c.424+1205T>G
c.539T>G (p.Phe180Cys)
c.*616T>G (n.*616T>G)
Xg.48905187A>GCA412895358SLC35A2c.722T>C (p.Phe241Ser)
c.355-295T>C (n.355-295T>C)
c.427-295T>C (n.427-295T>C)
c.284T>C
c.506T>C (p.Phe169Ser)
c.806T>C (p.Phe269Ser)
c.761T>C (p.Phe254Ser)
c.424+1205T>C
c.539T>C (p.Phe180Ser)
c.*616T>C (n.*616T>C)
Xg.48905187A>TCA412895359SLC35A2c.722T>A (p.Phe241Tyr)
c.355-295T>A (n.355-295T>A)
c.427-295T>A (n.427-295T>A)
c.284T>A
c.506T>A (p.Phe169Tyr)
c.806T>A (p.Phe269Tyr)
c.761T>A (p.Phe254Tyr)
c.424+1205T>A
c.539T>A (p.Phe180Tyr)
c.*616T>A (n.*616T>A)
Xg.48905188A>CCA412895361SLC35A2c.721T>G (p.Phe241Val)
c.355-296T>G (n.355-296T>G)
c.427-296T>G (n.427-296T>G)
c.283T>G
c.505T>G (p.Phe169Val)
c.805T>G (p.Phe269Val)
c.760T>G (p.Phe254Val)
c.424+1204T>G
c.538T>G (p.Phe180Val)
c.*615T>G (n.*615T>G)
Xg.48905188A>GCA412895362SLC35A2c.721T>C (p.Phe241Leu)
c.355-296T>C (n.355-296T>C)
c.427-296T>C (n.427-296T>C)
c.283T>C
c.505T>C (p.Phe169Leu)
c.805T>C (p.Phe269Leu)
c.760T>C (p.Phe254Leu)
c.424+1204T>C
c.538T>C (p.Phe180Leu)
c.*615T>C (n.*615T>C)
Xg.48905188A>TCA412895360SLC35A2c.721T>A (p.Phe241Ile)
c.355-296T>A (n.355-296T>A)
c.427-296T>A (n.427-296T>A)
c.283T>A
c.505T>A (p.Phe169Ile)
c.805T>A (p.Phe269Ile)
c.760T>A (p.Phe254Ile)
c.424+1204T>A
c.538T>A (p.Phe180Ile)
c.*615T>A (n.*615T>A)
Xg.48905189G>ACA516360027SLC35A2c.720C>T (p.Leu240=)
c.355-297C>T (n.355-297C>T)
c.427-297C>T (n.427-297C>T)
c.282C>T
c.504C>T (p.Leu168=)
c.804C>T (p.Leu268=)
c.759C>T (p.Leu253=)
c.424+1203C>T
c.537C>T (p.Leu179=)
c.*614C>T (n.*614C>T)
Xg.48905189G>CCA516360024SLC35A2c.720C>G (p.Leu240=)
c.355-297C>G (n.355-297C>G)
c.427-297C>G (n.427-297C>G)
c.282C>G
c.504C>G (p.Leu168=)
c.804C>G (p.Leu268=)
c.759C>G (p.Leu253=)
c.424+1203C>G
c.537C>G (p.Leu179=)
c.*614C>G (n.*614C>G)
Xg.48905189G>TCA516360026SLC35A2c.720C>A (p.Leu240=)
c.355-297C>A (n.355-297C>A)
c.427-297C>A (n.427-297C>A)
c.282C>A
c.504C>A (p.Leu168=)
c.804C>A (p.Leu268=)
c.759C>A (p.Leu253=)
c.424+1203C>A
c.537C>A (p.Leu179=)
c.*614C>A (n.*614C>A)
Xg.48905190A>CCA412895364SLC35A2c.719T>G (p.Leu240Arg)
c.355-298T>G (n.355-298T>G)
c.427-298T>G (n.427-298T>G)
c.281T>G
c.503T>G (p.Leu168Arg)
c.803T>G (p.Leu268Arg)
c.758T>G (p.Leu253Arg)
c.424+1202T>G
c.536T>G (p.Leu179Arg)
c.*613T>G (n.*613T>G)
Xg.48905190A>GCA412895363SLC35A2c.719T>C (p.Leu240Pro)
c.355-298T>C (n.355-298T>C)
c.427-298T>C (n.427-298T>C)
c.281T>C
c.503T>C (p.Leu168Pro)
c.803T>C (p.Leu268Pro)
c.758T>C (p.Leu253Pro)
c.424+1202T>C
c.536T>C (p.Leu179Pro)
c.*613T>C (n.*613T>C)
Xg.48905190A>TCA412895365SLC35A2c.719T>A (p.Leu240His)
c.355-298T>A (n.355-298T>A)
c.427-298T>A (n.427-298T>A)
c.281T>A
c.503T>A (p.Leu168His)
c.803T>A (p.Leu268His)
c.758T>A (p.Leu253His)
c.424+1202T>A
c.536T>A (p.Leu179His)
c.*613T>A (n.*613T>A)
Xg.48905191G>ACA412895366SLC35A2c.718C>T (p.Leu240Phe)
c.355-299C>T (n.355-299C>T)
c.427-299C>T (n.427-299C>T)
c.280C>T
c.502C>T (p.Leu168Phe)
c.802C>T (p.Leu268Phe)
c.757C>T (p.Leu253Phe)
c.424+1201C>T
c.535C>T (p.Leu179Phe)
c.*612C>T (n.*612C>T)
 ClinVar
Xg.48905191G>CCA412895368SLC35A2c.718C>G (p.Leu240Val)
c.355-299C>G (n.355-299C>G)
c.427-299C>G (n.427-299C>G)
c.280C>G
c.502C>G (p.Leu168Val)
c.802C>G (p.Leu268Val)
c.757C>G (p.Leu253Val)
c.424+1201C>G
c.535C>G (p.Leu179Val)
c.*612C>G (n.*612C>G)
 dbSNP
Xg.48905191G=CA2428428895SLC35A2c.718C= (p.Leu240=)
c.355-299C= (n.355-299C=)
c.427-299C= (n.427-299C=)
c.280C=
c.502C= (p.Leu168=)
c.802C= (p.Leu268=)
c.757C= (p.Leu253=)
c.424+1201C=
c.535C= (p.Leu179=)
c.*612C= (n.*612C=)
Xg.48905191G>TCA412895367SLC35A2c.718C>A (p.Leu240Ile)
c.355-299C>A (n.355-299C>A)
c.427-299C>A (n.427-299C>A)
c.280C>A
c.502C>A (p.Leu168Ile)
c.802C>A (p.Leu268Ile)
c.757C>A (p.Leu253Ile)
c.424+1201C>A
c.535C>A (p.Leu179Ile)
c.*612C>A (n.*612C>A)
Xg.48905192G>ACA516360028SLC35A2c.717C>T (p.Gly239=)
c.355-300C>T (n.355-300C>T)
c.427-300C>T (n.427-300C>T)
c.279C>T
c.501C>T (p.Gly167=)
c.801C>T (p.Gly267=)
c.756C>T (p.Gly252=)
c.424+1200C>T
c.534C>T (p.Gly178=)
c.*611C>T (n.*611C>T)
Xg.48905192G>CCA516360030SLC35A2c.717C>G (p.Gly239=)
c.355-300C>G (n.355-300C>G)
c.427-300C>G (n.427-300C>G)
c.279C>G
c.501C>G (p.Gly167=)
c.801C>G (p.Gly267=)
c.756C>G (p.Gly252=)
c.424+1200C>G
c.534C>G (p.Gly178=)
c.*611C>G (n.*611C>G)
Xg.48905192G>TCA516360031SLC35A2c.717C>A (p.Gly239=)
c.355-300C>A (n.355-300C>A)
c.427-300C>A (n.427-300C>A)
c.279C>A
c.501C>A (p.Gly167=)
c.801C>A (p.Gly267=)
c.756C>A (p.Gly252=)
c.424+1200C>A
c.534C>A (p.Gly178=)
c.*611C>A (n.*611C>A)
Xg.48905193C>ACA412895369SLC35A2c.716G>T (p.Gly239Val)
c.355-301G>T (n.355-301G>T)
c.427-301G>T (n.427-301G>T)
c.278G>T
c.500G>T (p.Gly167Val)
c.800G>T (p.Gly267Val)
c.755G>T (p.Gly252Val)
c.424+1199G>T
c.533G>T (p.Gly178Val)
c.*610G>T (n.*610G>T)
Xg.48905193C>GCA412895370SLC35A2c.716G>C (p.Gly239Ala)
c.355-301G>C (n.355-301G>C)
c.427-301G>C (n.427-301G>C)
c.278G>C
c.500G>C (p.Gly167Ala)
c.800G>C (p.Gly267Ala)
c.755G>C (p.Gly252Ala)
c.424+1199G>C
c.533G>C (p.Gly178Ala)
c.*610G>C (n.*610G>C)
Xg.48905193C>TCA412895371SLC35A2c.716G>A (p.Gly239Asp)
c.355-301G>A (n.355-301G>A)
c.427-301G>A (n.427-301G>A)
c.278G>A
c.500G>A (p.Gly167Asp)
c.800G>A (p.Gly267Asp)
c.755G>A (p.Gly252Asp)
c.424+1199G>A
c.533G>A (p.Gly178Asp)
c.*610G>A (n.*610G>A)
Xg.48905194C>ACA412895372SLC35A2c.715G>T (p.Gly239Cys)
c.355-302G>T (n.355-302G>T)
c.427-302G>T (n.427-302G>T)
c.277G>T
c.499G>T (p.Gly167Cys)
c.799G>T (p.Gly267Cys)
c.754G>T (p.Gly252Cys)
c.424+1198G>T
c.532G>T (p.Gly178Cys)
c.*609G>T (n.*609G>T)
Xg.48905194C>GCA412895373SLC35A2c.715G>C (p.Gly239Arg)
c.355-302G>C (n.355-302G>C)
c.427-302G>C (n.427-302G>C)
c.277G>C
c.499G>C (p.Gly167Arg)
c.799G>C (p.Gly267Arg)
c.754G>C (p.Gly252Arg)
c.424+1198G>C
c.532G>C (p.Gly178Arg)
c.*609G>C (n.*609G>C)
Xg.48905194C>TCA412895374SLC35A2c.715G>A (p.Gly239Ser)
c.355-302G>A (n.355-302G>A)
c.427-302G>A (n.427-302G>A)
c.277G>A
c.499G>A (p.Gly167Ser)
c.799G>A (p.Gly267Ser)
c.754G>A (p.Gly252Ser)
c.424+1198G>A
c.532G>A (p.Gly178Ser)
c.*609G>A (n.*609G>A)
Xg.48905195C>ACA516360035SLC35A2c.714G>T (p.Leu238=)
c.355-303G>T (n.355-303G>T)
c.427-303G>T (n.427-303G>T)
c.276G>T
c.498G>T (p.Leu166=)
c.798G>T (p.Leu266=)
c.753G>T (p.Leu251=)
c.424+1197G>T
c.531G>T (p.Leu177=)
c.*608G>T (n.*608G>T)
 gnomAD v4
Xg.48905195C>GCA516360033SLC35A2c.714G>C (p.Leu238=)
c.355-303G>C (n.355-303G>C)
c.427-303G>C (n.427-303G>C)
c.276G>C
c.498G>C (p.Leu166=)
c.798G>C (p.Leu266=)
c.753G>C (p.Leu251=)
c.424+1197G>C
c.531G>C (p.Leu177=)
c.*608G>C (n.*608G>C)
Xg.48905195C>TCA516360037SLC35A2c.714G>A (p.Leu238=)
c.355-303G>A (n.355-303G>A)
c.427-303G>A (n.427-303G>A)
c.276G>A
c.498G>A (p.Leu166=)
c.798G>A (p.Leu266=)
c.753G>A (p.Leu251=)
c.424+1197G>A
c.531G>A (p.Leu177=)
c.*608G>A (n.*608G>A)
Xg.48905196A>CCA412895375SLC35A2c.713T>G (p.Leu238Arg)
c.355-304T>G (n.355-304T>G)
c.427-304T>G (n.427-304T>G)
c.275T>G
c.497T>G (p.Leu166Arg)
c.797T>G (p.Leu266Arg)
c.752T>G (p.Leu251Arg)
c.424+1196T>G
c.530T>G (p.Leu177Arg)
c.*607T>G (n.*607T>G)
Xg.48905196A>GCA412895376SLC35A2c.713T>C (p.Leu238Pro)
c.355-304T>C (n.355-304T>C)
c.427-304T>C (n.427-304T>C)
c.275T>C
c.497T>C (p.Leu166Pro)
c.797T>C (p.Leu266Pro)
c.752T>C (p.Leu251Pro)
c.424+1196T>C
c.530T>C (p.Leu177Pro)
c.*607T>C (n.*607T>C)
Xg.48905196A>TCA412895377SLC35A2c.713T>A (p.Leu238Gln)
c.355-304T>A (n.355-304T>A)
c.427-304T>A (n.427-304T>A)
c.275T>A
c.497T>A (p.Leu166Gln)
c.797T>A (p.Leu266Gln)
c.752T>A (p.Leu251Gln)
c.424+1196T>A
c.530T>A (p.Leu177Gln)
c.*607T>A (n.*607T>A)
Xg.48905197G>ACA516360041SLC35A2c.712C>T (p.Leu238=)
c.355-305C>T (n.355-305C>T)
c.427-305C>T (n.427-305C>T)
c.274C>T
c.496C>T (p.Leu166=)
c.796C>T (p.Leu266=)
c.751C>T (p.Leu251=)
c.424+1195C>T
c.529C>T (p.Leu177=)
c.*606C>T (n.*606C>T)
Xg.48905197G>CCA412895378SLC35A2c.712C>G (p.Leu238Val)
c.355-305C>G (n.355-305C>G)
c.427-305C>G (n.427-305C>G)
c.274C>G
c.496C>G (p.Leu166Val)
c.796C>G (p.Leu266Val)
c.751C>G (p.Leu251Val)
c.424+1195C>G
c.529C>G (p.Leu177Val)
c.*606C>G (n.*606C>G)
Xg.48905197G>TCA412895379SLC35A2c.712C>A (p.Leu238Met)
c.355-305C>A (n.355-305C>A)
c.427-305C>A (n.427-305C>A)
c.274C>A
c.496C>A (p.Leu166Met)
c.796C>A (p.Leu266Met)
c.751C>A (p.Leu251Met)
c.424+1195C>A
c.529C>A (p.Leu177Met)
c.*606C>A (n.*606C>A)
Xg.48905198T>ACA412895380SLC35A2c.711A>T (p.Gln237His)
c.355-306A>T (n.355-306A>T)
c.427-306A>T (n.427-306A>T)
c.273A>T
c.495A>T (p.Gln165His)
c.795A>T (p.Gln265His)
c.750A>T (p.Gln250His)
c.424+1194A>T
c.528A>T (p.Gln176His)
c.*605A>T (n.*605A>T)
Xg.48905198T>CCA516360043SLC35A2c.711A>G (p.Gln237=)
c.355-306A>G (n.355-306A>G)
c.427-306A>G (n.427-306A>G)
c.273A>G
c.495A>G (p.Gln165=)
c.795A>G (p.Gln265=)
c.750A>G (p.Gln250=)
c.424+1194A>G
c.528A>G (p.Gln176=)
c.*605A>G (n.*605A>G)
Xg.48905198T>GCA412895381SLC35A2c.711A>C (p.Gln237His)
c.355-306A>C (n.355-306A>C)
c.427-306A>C (n.427-306A>C)
c.273A>C
c.495A>C (p.Gln165His)
c.795A>C (p.Gln265His)
c.750A>C (p.Gln250His)
c.424+1194A>C
c.528A>C (p.Gln176His)
c.*605A>C (n.*605A>C)
Xg.48905199T>ACA412895382SLC35A2c.710A>T (p.Gln237Leu)
c.355-307A>T (n.355-307A>T)
c.427-307A>T (n.427-307A>T)
c.272A>T
c.494A>T (p.Gln165Leu)
c.794A>T (p.Gln265Leu)
c.749A>T (p.Gln250Leu)
c.424+1193A>T
c.527A>T (p.Gln176Leu)
c.*604A>T (n.*604A>T)
Xg.48905199T>CCA412895384SLC35A2c.710A>G (p.Gln237Arg)
c.355-307A>G (n.355-307A>G)
c.427-307A>G (n.427-307A>G)
c.272A>G
c.494A>G (p.Gln165Arg)
c.794A>G (p.Gln265Arg)
c.749A>G (p.Gln250Arg)
c.424+1193A>G
c.527A>G (p.Gln176Arg)
c.*604A>G (n.*604A>G)
Xg.48905199T>GCA412895383SLC35A2c.710A>C (p.Gln237Pro)
c.355-307A>C (n.355-307A>C)
c.427-307A>C (n.427-307A>C)
c.272A>C
c.494A>C (p.Gln165Pro)
c.794A>C (p.Gln265Pro)
c.749A>C (p.Gln250Pro)
c.424+1193A>C
c.527A>C (p.Gln176Pro)
c.*604A>C (n.*604A>C)
Xg.48905200G>ACA412895385SLC35A2c.709C>T (p.Gln237Ter)
c.355-308C>T (n.355-308C>T)
c.427-308C>T (n.427-308C>T)
c.271C>T
c.493C>T (p.Gln165Ter)
c.793C>T (p.Gln265Ter)
c.748C>T (p.Gln250Ter)
c.424+1192C>T
c.526C>T (p.Gln176Ter)
c.*603C>T (n.*603C>T)
Xg.48905200G>CCA412895386SLC35A2c.709C>G (p.Gln237Glu)
c.355-308C>G (n.355-308C>G)
c.427-308C>G (n.427-308C>G)
c.271C>G
c.493C>G (p.Gln165Glu)
c.793C>G (p.Gln265Glu)
c.748C>G (p.Gln250Glu)
c.424+1192C>G
c.526C>G (p.Gln176Glu)
c.*603C>G (n.*603C>G)
Xg.48905200G>TCA412895387SLC35A2c.709C>A (p.Gln237Lys)
c.355-308C>A (n.355-308C>A)
c.427-308C>A (n.427-308C>A)
c.271C>A
c.493C>A (p.Gln165Lys)
c.793C>A (p.Gln265Lys)
c.748C>A (p.Gln250Lys)
c.424+1192C>A
c.526C>A (p.Gln176Lys)
c.*603C>A (n.*603C>A)
Xg.48905201C>ACA516360045SLC35A2c.708G>T (p.Leu236=)
c.355-309G>T (n.355-309G>T)
c.427-309G>T (n.427-309G>T)
c.270G>T
c.492G>T (p.Leu164=)
c.792G>T (p.Leu264=)
c.747G>T (p.Leu249=)
c.424+1191G>T
c.525G>T (p.Leu175=)
c.*602G>T (n.*602G>T)
Xg.48905201C=CA2428428896SLC35A2c.708G= (p.Leu236=)
c.355-309G= (n.355-309G=)
c.427-309G= (n.427-309G=)
c.270G=
c.492G= (p.Leu164=)
c.792G= (p.Leu264=)
c.747G= (p.Leu249=)
c.424+1191G=
c.525G= (p.Leu175=)
c.*602G= (n.*602G=)
Xg.48905201C>GCA516360046SLC35A2c.708G>C (p.Leu236=)
c.355-309G>C (n.355-309G>C)
c.427-309G>C (n.427-309G>C)
c.270G>C
c.492G>C (p.Leu164=)
c.792G>C (p.Leu264=)
c.747G>C (p.Leu249=)
c.424+1191G>C
c.525G>C (p.Leu175=)
c.*602G>C (n.*602G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.48905201C>TCA516360048SLC35A2c.708G>A (p.Leu236=)
c.355-309G>A (n.355-309G>A)
c.427-309G>A (n.427-309G>A)
c.270G>A
c.492G>A (p.Leu164=)
c.792G>A (p.Leu264=)
c.747G>A (p.Leu249=)
c.424+1191G>A
c.525G>A (p.Leu175=)
c.*602G>A (n.*602G>A)
 gnomAD v4
Xg.48905202A>CCA412895388SLC35A2c.707T>G (p.Leu236Arg)
c.355-310T>G (n.355-310T>G)
c.427-310T>G (n.427-310T>G)
c.269T>G
c.491T>G (p.Leu164Arg)
c.791T>G (p.Leu264Arg)
c.746T>G (p.Leu249Arg)
c.424+1190T>G
c.524T>G (p.Leu175Arg)
c.*601T>G (n.*601T>G)
Xg.48905202A>GCA412895389SLC35A2c.707T>C (p.Leu236Pro)
c.355-310T>C (n.355-310T>C)
c.427-310T>C (n.427-310T>C)
c.269T>C
c.491T>C (p.Leu164Pro)
c.791T>C (p.Leu264Pro)
c.746T>C (p.Leu249Pro)
c.424+1190T>C
c.524T>C (p.Leu175Pro)
c.*601T>C (n.*601T>C)
Xg.48905202A>TCA412895390SLC35A2c.707T>A (p.Leu236Gln)
c.355-310T>A (n.355-310T>A)
c.427-310T>A (n.427-310T>A)
c.269T>A
c.491T>A (p.Leu164Gln)
c.791T>A (p.Leu264Gln)
c.746T>A (p.Leu249Gln)
c.424+1190T>A
c.524T>A (p.Leu175Gln)
c.*601T>A (n.*601T>A)
Xg.48905203G>ACA516360051SLC35A2c.706C>T (p.Leu236=)
c.355-311C>T (n.355-311C>T)
c.427-311C>T (n.427-311C>T)
c.268C>T
c.490C>T (p.Leu164=)
c.790C>T (p.Leu264=)
c.745C>T (p.Leu249=)
c.424+1189C>T
c.523C>T (p.Leu175=)
c.*600C>T (n.*600C>T)
Xg.48905203G>CCA412895391SLC35A2c.706C>G (p.Leu236Val)
c.355-311C>G (n.355-311C>G)
c.427-311C>G (n.427-311C>G)
c.268C>G
c.490C>G (p.Leu164Val)
c.790C>G (p.Leu264Val)
c.745C>G (p.Leu249Val)
c.424+1189C>G
c.523C>G (p.Leu175Val)
c.*600C>G (n.*600C>G)
Xg.48905203G>TCA412895392SLC35A2c.706C>A (p.Leu236Met)
c.355-311C>A (n.355-311C>A)
c.427-311C>A (n.427-311C>A)
c.268C>A
c.490C>A (p.Leu164Met)
c.790C>A (p.Leu264Met)
c.745C>A (p.Leu249Met)
c.424+1189C>A
c.523C>A (p.Leu175Met)
c.*600C>A (n.*600C>A)
Xg.48905204G>ACA516360054SLC35A2c.705C>T (p.Asn235=)
c.355-312C>T (n.355-312C>T)
c.427-312C>T (n.427-312C>T)
c.267C>T
c.489C>T (p.Asn163=)
c.789C>T (p.Asn263=)
c.744C>T (p.Asn248=)
c.424+1188C>T
c.522C>T (p.Asn174=)
c.*599C>T (n.*599C>T)
Xg.48905204G>CCA412895393SLC35A2c.705C>G (p.Asn235Lys)
c.355-312C>G (n.355-312C>G)
c.427-312C>G (n.427-312C>G)
c.267C>G
c.489C>G (p.Asn163Lys)
c.789C>G (p.Asn263Lys)
c.744C>G (p.Asn248Lys)
c.424+1188C>G
c.522C>G (p.Asn174Lys)
c.*599C>G (n.*599C>G)
Xg.48905204G>TCA412895394SLC35A2c.705C>A (p.Asn235Lys)
c.355-312C>A (n.355-312C>A)
c.427-312C>A (n.427-312C>A)
c.267C>A
c.489C>A (p.Asn163Lys)
c.789C>A (p.Asn263Lys)
c.744C>A (p.Asn248Lys)
c.424+1188C>A
c.522C>A (p.Asn174Lys)
c.*599C>A (n.*599C>A)
Xg.48905205T>ACA412895397SLC35A2c.704A>T (p.Asn235Ile)
c.355-313A>T (n.355-313A>T)
c.427-313A>T (n.427-313A>T)
c.266A>T
c.488A>T (p.Asn163Ile)
c.788A>T (p.Asn263Ile)
c.743A>T (p.Asn248Ile)
c.424+1187A>T
c.521A>T (p.Asn174Ile)
c.*598A>T (n.*598A>T)
Xg.48905205T>CCA412895396SLC35A2c.704A>G (p.Asn235Ser)
c.355-313A>G (n.355-313A>G)
c.427-313A>G (n.427-313A>G)
c.266A>G
c.488A>G (p.Asn163Ser)
c.788A>G (p.Asn263Ser)
c.743A>G (p.Asn248Ser)
c.424+1187A>G
c.521A>G (p.Asn174Ser)
c.*598A>G (n.*598A>G)
Xg.48905205T>GCA412895395SLC35A2c.704A>C (p.Asn235Thr)
c.355-313A>C (n.355-313A>C)
c.427-313A>C (n.427-313A>C)
c.266A>C
c.488A>C (p.Asn163Thr)
c.788A>C (p.Asn263Thr)
c.743A>C (p.Asn248Thr)
c.424+1187A>C
c.521A>C (p.Asn174Thr)
c.*598A>C (n.*598A>C)
Xg.48905206T>ACA412895398SLC35A2c.703A>T (p.Asn235Tyr)
c.355-314A>T (n.355-314A>T)
c.427-314A>T (n.427-314A>T)
c.265A>T
c.487A>T (p.Asn163Tyr)
c.787A>T (p.Asn263Tyr)
c.742A>T (p.Asn248Tyr)
c.424+1186A>T
c.520A>T (p.Asn174Tyr)
c.*597A>T (n.*597A>T)
Xg.48905206T>CCA412895399SLC35A2c.703A>G (p.Asn235Asp)
c.355-314A>G (n.355-314A>G)
c.427-314A>G (n.427-314A>G)
c.265A>G
c.487A>G (p.Asn163Asp)
c.787A>G (p.Asn263Asp)
c.742A>G (p.Asn248Asp)
c.424+1186A>G
c.520A>G (p.Asn174Asp)
c.*597A>G (n.*597A>G)
Xg.48905206T>GCA412895400SLC35A2c.703A>C (p.Asn235His)
c.355-314A>C (n.355-314A>C)
c.427-314A>C (n.427-314A>C)
c.265A>C
c.487A>C (p.Asn163His)
c.787A>C (p.Asn263His)
c.742A>C (p.Asn248His)
c.424+1186A>C
c.520A>C (p.Asn174His)
c.*597A>C (n.*597A>C)
Xg.48905207G>ACA10406104SLC35A2c.702C>T (p.Arg234=)
c.355-315C>T (n.355-315C>T)
c.427-315C>T (n.427-315C>T)
c.264C>T
c.486C>T (p.Arg162=)
c.786C>T (p.Arg262=)
c.741C>T (p.Arg247=)
c.424+1185C>T
c.519C>T (p.Arg173=)
c.*596C>T (n.*596C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.48905207G>CCA516360058SLC35A2c.702C>G (p.Arg234=)
c.355-315C>G (n.355-315C>G)
c.427-315C>G (n.427-315C>G)
c.264C>G
c.486C>G (p.Arg162=)
c.786C>G (p.Arg262=)
c.741C>G (p.Arg247=)
c.424+1185C>G
c.519C>G (p.Arg173=)
c.*596C>G (n.*596C>G)
Xg.48905207G=CA2428428897SLC35A2c.702C= (p.Arg234=)
c.355-315C= (n.355-315C=)
c.427-315C= (n.427-315C=)
c.264C=
c.486C= (p.Arg162=)
c.786C= (p.Arg262=)
c.741C= (p.Arg247=)
c.424+1185C=
c.519C= (p.Arg173=)
c.*596C= (n.*596C=)
Xg.48905207G>TCA516360061SLC35A2c.702C>A (p.Arg234=)
c.355-315C>A (n.355-315C>A)
c.427-315C>A (n.427-315C>A)
c.264C>A
c.486C>A (p.Arg162=)
c.786C>A (p.Arg262=)
c.741C>A (p.Arg247=)
c.424+1185C>A
c.519C>A (p.Arg173=)
c.*596C>A (n.*596C>A)
Xg.48905208C>ACA412895401SLC35A2c.701G>T (p.Arg234Leu)
c.355-316G>T (n.355-316G>T)
c.427-316G>T (n.427-316G>T)
c.263G>T
c.485G>T (p.Arg162Leu)
c.785G>T (p.Arg262Leu)
c.740G>T (p.Arg247Leu)
c.424+1184G>T
c.518G>T (p.Arg173Leu)
c.*595G>T (n.*595G>T)
Xg.48905208C=CA2428428898SLC35A2c.701G= (p.Arg234=)
c.355-316G= (n.355-316G=)
c.427-316G= (n.427-316G=)
c.263G=
c.485G= (p.Arg162=)
c.785G= (p.Arg262=)
c.740G= (p.Arg247=)
c.424+1184G=
c.518G= (p.Arg173=)
c.*595G= (n.*595G=)
Xg.48905208C>GCA412895402SLC35A2c.701G>C (p.Arg234Pro)
c.355-316G>C (n.355-316G>C)
c.427-316G>C (n.427-316G>C)
c.263G>C
c.485G>C (p.Arg162Pro)
c.785G>C (p.Arg262Pro)
c.740G>C (p.Arg247Pro)
c.424+1184G>C
c.518G>C (p.Arg173Pro)
c.*595G>C (n.*595G>C)
Xg.48905208C>TCA412895403SLC35A2c.701G>A (p.Arg234His)
c.355-316G>A (n.355-316G>A)
c.427-316G>A (n.427-316G>A)
c.263G>A
c.485G>A (p.Arg162His)
c.785G>A (p.Arg262His)
c.740G>A (p.Arg247His)
c.424+1184G>A
c.518G>A (p.Arg173His)
c.*595G>A (n.*595G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.48905209G>ACA412895404SLC35A2c.700C>T (p.Arg234Cys)
c.355-317C>T (n.355-317C>T)
c.427-317C>T (n.427-317C>T)
c.262C>T
c.484C>T (p.Arg162Cys)
c.784C>T (p.Arg262Cys)
c.739C>T (p.Arg247Cys)
c.424+1183C>T
c.517C>T (p.Arg173Cys)
c.*594C>T (n.*594C>T)
 ClinVar dbSNP gnomAD v4
Xg.48905209G>CCA412895405SLC35A2c.700C>G (p.Arg234Gly)
c.355-317C>G (n.355-317C>G)
c.427-317C>G (n.427-317C>G)
c.262C>G
c.484C>G (p.Arg162Gly)
c.784C>G (p.Arg262Gly)
c.739C>G (p.Arg247Gly)
c.424+1183C>G
c.517C>G (p.Arg173Gly)
c.*594C>G (n.*594C>G)
Xg.48905209G=CA2428428899SLC35A2c.700C= (p.Arg234=)
c.355-317C= (n.355-317C=)
c.427-317C= (n.427-317C=)
c.262C=
c.484C= (p.Arg162=)
c.784C= (p.Arg262=)
c.739C= (p.Arg247=)
c.424+1183C=
c.517C= (p.Arg173=)
c.*594C= (n.*594C=)
Xg.48905209G>TCA412895406SLC35A2c.700C>A (p.Arg234Ser)
c.355-317C>A (n.355-317C>A)
c.427-317C>A (n.427-317C>A)
c.262C>A
c.484C>A (p.Arg162Ser)
c.784C>A (p.Arg262Ser)
c.739C>A (p.Arg247Ser)
c.424+1183C>A
c.517C>A (p.Arg173Ser)
c.*594C>A (n.*594C>A)

Number of alleles fetched