Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.48905095A>C | CA412895160 | SLC35A2 | c.814T>G (p.Trp272Gly) c.355-203T>G (n.355-203T>G) c.427-203T>G (n.427-203T>G) c.376T>G c.898T>G (p.Trp300Gly) c.853T>G (p.Trp285Gly) c.424+1297T>G c.631T>G (p.Trp211Gly) c.*708T>G (n.*708T>G) | |
X | g.48905095A>G | CA412895161 | SLC35A2 | c.814T>C (p.Trp272Arg) c.355-203T>C (n.355-203T>C) c.427-203T>C (n.427-203T>C) c.376T>C c.898T>C (p.Trp300Arg) c.853T>C (p.Trp285Arg) c.424+1297T>C c.631T>C (p.Trp211Arg) c.*708T>C (n.*708T>C) | |
X | g.48905095A>T | CA412895162 | SLC35A2 | c.814T>A (p.Trp272Arg) c.355-203T>A (n.355-203T>A) c.427-203T>A (n.427-203T>A) c.376T>A c.898T>A (p.Trp300Arg) c.853T>A (p.Trp285Arg) c.424+1297T>A c.631T>A (p.Trp211Arg) c.*708T>A (n.*708T>A) | |
X | g.48905096G>A | CA516360006 | SLC35A2 | c.813C>T (p.Val271=) c.355-204C>T (n.355-204C>T) c.427-204C>T (n.427-204C>T) c.375C>T c.897C>T (p.Val299=) c.852C>T (p.Val284=) c.424+1296C>T c.630C>T (p.Val210=) c.*707C>T (n.*707C>T) | gnomAD v4 |
X | g.48905096G>C | CA516360007 | SLC35A2 | c.813C>G (p.Val271=) c.355-204C>G (n.355-204C>G) c.427-204C>G (n.427-204C>G) c.375C>G c.897C>G (p.Val299=) c.852C>G (p.Val284=) c.424+1296C>G c.630C>G (p.Val210=) c.*707C>G (n.*707C>G) | |
X | g.48905096G>T | CA516360008 | SLC35A2 | c.813C>A (p.Val271=) c.355-204C>A (n.355-204C>A) c.427-204C>A (n.427-204C>A) c.375C>A c.897C>A (p.Val299=) c.852C>A (p.Val284=) c.424+1296C>A c.630C>A (p.Val210=) c.*707C>A (n.*707C>A) | |
X | g.48905097A>C | CA412895163 | SLC35A2 | c.812T>G (p.Val271Gly) c.355-205T>G (n.355-205T>G) c.427-205T>G (n.427-205T>G) c.374T>G c.896T>G (p.Val299Gly) c.851T>G (p.Val284Gly) c.424+1295T>G c.629T>G (p.Val210Gly) c.*706T>G (n.*706T>G) | |
X | g.48905097A>G | CA412895164 | SLC35A2 | c.812T>C (p.Val271Ala) c.355-205T>C (n.355-205T>C) c.427-205T>C (n.427-205T>C) c.374T>C c.896T>C (p.Val299Ala) c.851T>C (p.Val284Ala) c.424+1295T>C c.629T>C (p.Val210Ala) c.*706T>C (n.*706T>C) | |
X | g.48905097A>T | CA412895165 | SLC35A2 | c.812T>A (p.Val271Asp) c.355-205T>A (n.355-205T>A) c.427-205T>A (n.427-205T>A) c.374T>A c.896T>A (p.Val299Asp) c.851T>A (p.Val284Asp) c.424+1295T>A c.629T>A (p.Val210Asp) c.*706T>A (n.*706T>A) | |
X | g.48905098C>A | CA412895168 | SLC35A2 | c.811G>T (p.Val271Phe) c.355-206G>T (n.355-206G>T) c.427-206G>T (n.427-206G>T) c.373G>T c.895G>T (p.Val299Phe) c.850G>T (p.Val284Phe) c.424+1294G>T c.628G>T (p.Val210Phe) c.*705G>T (n.*705G>T) | |
X | g.48905098C>G | CA412895166 | SLC35A2 | c.811G>C (p.Val271Leu) c.355-206G>C (n.355-206G>C) c.427-206G>C (n.427-206G>C) c.373G>C c.895G>C (p.Val299Leu) c.850G>C (p.Val284Leu) c.424+1294G>C c.628G>C (p.Val210Leu) c.*705G>C (n.*705G>C) | gnomAD v4 |
X | g.48905098C>T | CA412895167 | SLC35A2 | c.811G>A (p.Val271Ile) c.355-206G>A (n.355-206G>A) c.427-206G>A (n.427-206G>A) c.373G>A c.895G>A (p.Val299Ile) c.850G>A (p.Val284Ile) c.424+1294G>A c.628G>A (p.Val210Ile) c.*705G>A (n.*705G>A) | |
X | g.48905099A= | CA2428428871 | SLC35A2 | c.810T= (p.Ala270=) c.355-207T= (n.355-207T=) c.427-207T= (n.427-207T=) c.372T= c.894T= (p.Ala298=) c.849T= (p.Ala283=) c.424+1293T= c.627T= (p.Ala209=) c.*704T= (n.*704T=) | |
X | g.48905099A>C | CA516360011 | SLC35A2 | c.810T>G (p.Ala270=) c.355-207T>G (n.355-207T>G) c.427-207T>G (n.427-207T>G) c.372T>G c.894T>G (p.Ala298=) c.849T>G (p.Ala283=) c.424+1293T>G c.627T>G (p.Ala209=) c.*704T>G (n.*704T>G) | |
X | g.48905099A>G | CA10406095 | SLC35A2 | c.810T>C (p.Ala270=) c.355-207T>C (n.355-207T>C) c.427-207T>C (n.427-207T>C) c.372T>C c.894T>C (p.Ala298=) c.849T>C (p.Ala283=) c.424+1293T>C c.627T>C (p.Ala209=) c.*704T>C (n.*704T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.48905099A>T | CA516360012 | SLC35A2 | c.810T>A (p.Ala270=) c.355-207T>A (n.355-207T>A) c.427-207T>A (n.427-207T>A) c.372T>A c.894T>A (p.Ala298=) c.849T>A (p.Ala283=) c.424+1293T>A c.627T>A (p.Ala209=) c.*704T>A (n.*704T>A) | |
X | g.48905100G>A | CA412895169 | SLC35A2 | c.809C>T (p.Ala270Val) c.355-208C>T (n.355-208C>T) c.427-208C>T (n.427-208C>T) c.371C>T c.893C>T (p.Ala298Val) c.848C>T (p.Ala283Val) c.424+1292C>T c.626C>T (p.Ala209Val) c.*703C>T (n.*703C>T) | gnomAD v4 COSMIC |
X | g.48905100G>C | CA412895170 | SLC35A2 | c.809C>G (p.Ala270Gly) c.355-208C>G (n.355-208C>G) c.427-208C>G (n.427-208C>G) c.371C>G c.893C>G (p.Ala298Gly) c.848C>G (p.Ala283Gly) c.424+1292C>G c.626C>G (p.Ala209Gly) c.*703C>G (n.*703C>G) | |
X | g.48905100G>T | CA412895171 | SLC35A2 | c.809C>A (p.Ala270Asp) c.355-208C>A (n.355-208C>A) c.427-208C>A (n.427-208C>A) c.371C>A c.893C>A (p.Ala298Asp) c.848C>A (p.Ala283Asp) c.424+1292C>A c.626C>A (p.Ala209Asp) c.*703C>A (n.*703C>A) | |
X | g.48905101C>A | CA412895172 | SLC35A2 | c.808G>T (p.Ala270Ser) c.355-209G>T (n.355-209G>T) c.427-209G>T (n.427-209G>T) c.370G>T c.892G>T (p.Ala298Ser) c.847G>T (p.Ala283Ser) c.424+1291G>T c.625G>T (p.Ala209Ser) c.*702G>T (n.*702G>T) | |
X | g.48905101C= | CA2428428872 | SLC35A2 | c.808G= (p.Ala270=) c.355-209G= (n.355-209G=) c.427-209G= (n.427-209G=) c.370G= c.892G= (p.Ala298=) c.847G= (p.Ala283=) c.424+1291G= c.625G= (p.Ala209=) c.*702G= (n.*702G=) | |
X | g.48905101C>G | CA412895173 | SLC35A2 | c.808G>C (p.Ala270Pro) c.355-209G>C (n.355-209G>C) c.427-209G>C (n.427-209G>C) c.370G>C c.892G>C (p.Ala298Pro) c.847G>C (p.Ala283Pro) c.424+1291G>C c.625G>C (p.Ala209Pro) c.*702G>C (n.*702G>C) | |
X | g.48905101C>T | CA412895174 | SLC35A2 | c.808G>A (p.Ala270Thr) c.355-209G>A (n.355-209G>A) c.427-209G>A (n.427-209G>A) c.370G>A c.892G>A (p.Ala298Thr) c.847G>A (p.Ala283Thr) c.424+1291G>A c.625G>A (p.Ala209Thr) c.*702G>A (n.*702G>A) | dbSNP |
X | g.48905102A>C | CA516360016 | SLC35A2 | c.807T>G (p.Pro269=) c.355-210T>G (n.355-210T>G) c.427-210T>G (n.427-210T>G) c.369T>G c.891T>G (p.Pro297=) c.846T>G (p.Pro282=) c.424+1290T>G c.624T>G (p.Pro208=) c.*701T>G (n.*701T>G) | |
X | g.48905102A>G | CA516360018 | SLC35A2 | c.807T>C (p.Pro269=) c.355-210T>C (n.355-210T>C) c.427-210T>C (n.427-210T>C) c.369T>C c.891T>C (p.Pro297=) c.846T>C (p.Pro282=) c.424+1290T>C c.624T>C (p.Pro208=) c.*701T>C (n.*701T>C) | |
X | g.48905102A>T | CA516360019 | SLC35A2 | c.807T>A (p.Pro269=) c.355-210T>A (n.355-210T>A) c.427-210T>A (n.427-210T>A) c.369T>A c.891T>A (p.Pro297=) c.846T>A (p.Pro282=) c.424+1290T>A c.624T>A (p.Pro208=) c.*701T>A (n.*701T>A) | |
X | g.48905103G>A | CA412895175 | SLC35A2 | c.806C>T (p.Pro269Leu) c.355-211C>T (n.355-211C>T) c.427-211C>T (n.427-211C>T) c.368C>T c.890C>T (p.Pro297Leu) c.845C>T (p.Pro282Leu) c.424+1289C>T c.623C>T (p.Pro208Leu) c.*700C>T (n.*700C>T) | |
X | g.48905103G>C | CA412895176 | SLC35A2 | c.806C>G (p.Pro269Arg) c.355-211C>G (n.355-211C>G) c.427-211C>G (n.427-211C>G) c.368C>G c.890C>G (p.Pro297Arg) c.845C>G (p.Pro282Arg) c.424+1289C>G c.623C>G (p.Pro208Arg) c.*700C>G (n.*700C>G) | |
X | g.48905103G>T | CA412895177 | SLC35A2 | c.806C>A (p.Pro269His) c.355-211C>A (n.355-211C>A) c.427-211C>A (n.427-211C>A) c.368C>A c.890C>A (p.Pro297His) c.845C>A (p.Pro282His) c.424+1289C>A c.623C>A (p.Pro208His) c.*700C>A (n.*700C>A) | |
X | g.48905104G>A | CA412895178 | SLC35A2 | c.805C>T (p.Pro269Ser) c.355-212C>T (n.355-212C>T) c.427-212C>T (n.427-212C>T) c.367C>T c.889C>T (p.Pro297Ser) c.844C>T (p.Pro282Ser) c.424+1288C>T c.622C>T (p.Pro208Ser) c.*699C>T (n.*699C>T) | |
X | g.48905104G>C | CA412895179 | SLC35A2 | c.805C>G (p.Pro269Ala) c.355-212C>G (n.355-212C>G) c.427-212C>G (n.427-212C>G) c.367C>G c.889C>G (p.Pro297Ala) c.844C>G (p.Pro282Ala) c.424+1288C>G c.622C>G (p.Pro208Ala) c.*699C>G (n.*699C>G) | |
X | g.48905104G>T | CA412895180 | SLC35A2 | c.805C>A (p.Pro269Thr) c.355-212C>A (n.355-212C>A) c.427-212C>A (n.427-212C>A) c.367C>A c.889C>A (p.Pro297Thr) c.844C>A (p.Pro282Thr) c.424+1288C>A c.622C>A (p.Pro208Thr) c.*699C>A (n.*699C>A) | |
X | g.48905105T>A | CA516360025 | SLC35A2 | c.804A>T (p.Thr268=) c.355-213A>T (n.355-213A>T) c.427-213A>T (n.427-213A>T) c.366A>T c.888A>T (p.Thr296=) c.843A>T (p.Thr281=) c.424+1287A>T c.621A>T (p.Thr207=) c.*698A>T (n.*698A>T) | |
X | g.48905105T>C | CA516360023 | SLC35A2 | c.804A>G (p.Thr268=) c.355-213A>G (n.355-213A>G) c.427-213A>G (n.427-213A>G) c.366A>G c.888A>G (p.Thr296=) c.843A>G (p.Thr281=) c.424+1287A>G c.621A>G (p.Thr207=) c.*698A>G (n.*698A>G) | |
X | g.48905105T>G | CA516360022 | SLC35A2 | c.804A>C (p.Thr268=) c.355-213A>C (n.355-213A>C) c.427-213A>C (n.427-213A>C) c.366A>C c.888A>C (p.Thr296=) c.843A>C (p.Thr281=) c.424+1287A>C c.621A>C (p.Thr207=) c.*698A>C (n.*698A>C) | |
X | g.48905106G>A | CA412895182 | SLC35A2 | c.803C>T (p.Thr268Ile) c.355-214C>T (n.355-214C>T) c.427-214C>T (n.427-214C>T) c.365C>T c.887C>T (p.Thr296Ile) c.842C>T (p.Thr281Ile) c.424+1286C>T c.620C>T (p.Thr207Ile) c.*697C>T (n.*697C>T) | ClinVar dbSNP |
X | g.48905106G>C | CA412895183 | SLC35A2 | c.803C>G (p.Thr268Arg) c.355-214C>G (n.355-214C>G) c.427-214C>G (n.427-214C>G) c.365C>G c.887C>G (p.Thr296Arg) c.842C>G (p.Thr281Arg) c.424+1286C>G c.620C>G (p.Thr207Arg) c.*697C>G (n.*697C>G) | |
X | g.48905106G>T | CA412895181 | SLC35A2 | c.803C>A (p.Thr268Lys) c.355-214C>A (n.355-214C>A) c.427-214C>A (n.427-214C>A) c.365C>A c.887C>A (p.Thr296Lys) c.842C>A (p.Thr281Lys) c.424+1286C>A c.620C>A (p.Thr207Lys) c.*697C>A (n.*697C>A) | |
X | g.48905107T>A | CA412895186 | SLC35A2 | c.802A>T (p.Thr268Ser) c.355-215A>T (n.355-215A>T) c.427-215A>T (n.427-215A>T) c.364A>T c.886A>T (p.Thr296Ser) c.841A>T (p.Thr281Ser) c.424+1285A>T c.619A>T (p.Thr207Ser) c.*696A>T (n.*696A>T) | |
X | g.48905107T>C | CA412895184 | SLC35A2 | c.802A>G (p.Thr268Ala) c.355-215A>G (n.355-215A>G) c.427-215A>G (n.427-215A>G) c.364A>G c.886A>G (p.Thr296Ala) c.841A>G (p.Thr281Ala) c.424+1285A>G c.619A>G (p.Thr207Ala) c.*696A>G (n.*696A>G) | |
X | g.48905107T>G | CA412895185 | SLC35A2 | c.802A>C (p.Thr268Pro) c.355-215A>C (n.355-215A>C) c.427-215A>C (n.427-215A>C) c.364A>C c.886A>C (p.Thr296Pro) c.841A>C (p.Thr281Pro) c.424+1285A>C c.619A>C (p.Thr207Pro) c.*696A>C (n.*696A>C) | |
X | g.48905108G>A | CA10406096 | SLC35A2 | c.801C>T (p.Tyr267=) c.355-216C>T (n.355-216C>T) c.427-216C>T (n.427-216C>T) c.363C>T c.885C>T (p.Tyr295=) c.840C>T (p.Tyr280=) c.424+1284C>T c.618C>T (p.Tyr206=) c.*695C>T (n.*695C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.48905108G>C | CA412895187 | SLC35A2 | c.801C>G (p.Tyr267Ter) c.355-216C>G (n.355-216C>G) c.427-216C>G (n.427-216C>G) c.363C>G c.885C>G (p.Tyr295Ter) c.840C>G (p.Tyr280Ter) c.424+1284C>G c.618C>G (p.Tyr206Ter) c.*695C>G (n.*695C>G) | |
X | g.48905108G= | CA2428428873 | SLC35A2 | c.801C= (p.Tyr267=) c.355-216C= (n.355-216C=) c.427-216C= (n.427-216C=) c.363C= c.885C= (p.Tyr295=) c.840C= (p.Tyr280=) c.424+1284C= c.618C= (p.Tyr206=) c.*695C= (n.*695C=) | |
X | g.48905108G>T | CA412895188 | SLC35A2 | c.801C>A (p.Tyr267Ter) c.355-216C>A (n.355-216C>A) c.427-216C>A (n.427-216C>A) c.363C>A c.885C>A (p.Tyr295Ter) c.840C>A (p.Tyr280Ter) c.424+1284C>A c.618C>A (p.Tyr206Ter) c.*695C>A (n.*695C>A) | |
X | g.48905109T>A | CA412895189 | SLC35A2 | c.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) | |
X | g.48905109T>C | CA357924 | SLC35A2 | c.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 |
X | g.48905109T>G | CA412895190 | SLC35A2 | c.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) | |
X | g.48905109T= | CA2428428874 | SLC35A2 | c.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=) | |
X | g.48905110A>C | CA412895191 | SLC35A2 | c.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) | |
X | g.48905110A>G | CA412895192 | SLC35A2 | c.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) | |
X | g.48905110A>T | CA412895193 | SLC35A2 | c.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) | |
X | g.48905111C>A | CA516360032 | SLC35A2 | c.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) | |
X | g.48905111C>G | CA516360036 | SLC35A2 | c.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) | |
X | g.48905111C>T | CA516360034 | SLC35A2 | c.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 |
X | g.48905112C>A | CA412895196 | SLC35A2 | c.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) | |
X | g.48905112C>G | CA412895195 | SLC35A2 | c.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) | |
X | g.48905112C>T | CA412895194 | SLC35A2 | c.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) | |
X | g.48905113C>A | CA412895197 | SLC35A2 | c.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 |
X | g.48905113C>G | CA412895198 | SLC35A2 | c.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) | |
X | g.48905113C>T | CA412895199 | SLC35A2 | c.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) | |
X | g.48905113_48905114delinsCA | CA2428428875 | SLC35A2 | c.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) | |
X | g.48905114A>C | CA412895200 | SLC35A2 | c.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) | |
X | g.48905114A>G | CA516360042 | SLC35A2 | c.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) | |
X | g.48905114A>T | CA412895201 | SLC35A2 | c.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) | |
X | g.48905119dup | CA2580101089 | SLC35A2 | c.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 |
X | g.48905119del | CA658799742 | SLC35A2 | c.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 |
X | g.48905115A>C | CA412895202 | SLC35A2 | c.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) | |
X | g.48905115A>G | CA412895203 | SLC35A2 | c.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) | |
X | g.48905115A>T | CA412895204 | SLC35A2 | c.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) | |
X | g.48905116A>C | CA412895205 | SLC35A2 | c.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) | |
X | g.48905116A>G | CA412895206 | SLC35A2 | c.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) | |
X | g.48905116A>T | CA412895207 | SLC35A2 | c.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) | |
X | g.48905117A>C | CA412895208 | SLC35A2 | c.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) | |
X | g.48905117A>G | CA516360047 | SLC35A2 | c.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) | |
X | g.48905117A>T | CA412895209 | SLC35A2 | c.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) | |
X | g.48905118A>C | CA412895211 | SLC35A2 | c.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) | |
X | g.48905118A>G | CA412895212 | SLC35A2 | c.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) | |
X | g.48905118A>T | CA412895210 | SLC35A2 | c.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) | |
X | g.48905119A>C | CA412895213 | SLC35A2 | c.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) | |
X | g.48905119A>G | CA412895214 | SLC35A2 | c.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) | |
X | g.48905119A>T | CA412895215 | SLC35A2 | c.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) | |
X | g.48905120G>A | CA516360053 | SLC35A2 | c.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) | |
X | g.48905120G>C | CA412895216 | SLC35A2 | c.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 |
X | g.48905120G>T | CA412895217 | SLC35A2 | c.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) | |
X | g.48905121A>C | CA412895220 | SLC35A2 | c.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) | |
X | g.48905121A>G | CA412895219 | SLC35A2 | c.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) | |
X | g.48905121A>T | CA412895218 | SLC35A2 | c.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) | |
X | g.48905122A>C | CA412895221 | SLC35A2 | c.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) | |
X | g.48905122A>G | CA412895222 | SLC35A2 | c.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) | |
X | g.48905122A>T | CA412895223 | SLC35A2 | c.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) | |
X | g.48905123A= | CA2428428876 | SLC35A2 | c.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=) | |
X | g.48905123A>C | CA516360059 | SLC35A2 | c.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) | |
X | g.48905123A>G | CA516360060 | SLC35A2 | c.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 |
X | g.48905123A>T | CA516360062 | SLC35A2 | c.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) | |
X | g.48905124C>A | CA412895224 | SLC35A2 | c.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) | |
X | g.48905124C>G | CA412895225 | SLC35A2 | c.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) | |
X | g.48905124C>T | CA412895226 | SLC35A2 | c.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) | |
X | g.48905125C>A | CA412895227 | SLC35A2 | c.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) | |
X | g.48905125C>G | CA412895229 | SLC35A2 | c.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) | |
X | g.48905125C>T | CA412895228 | SLC35A2 | c.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 |
X | g.48905126A>C | CA516360067 | SLC35A2 | c.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) | |
X | g.48905126A>G | CA516360064 | SLC35A2 | c.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 |
X | g.48905126A>T | CA516360066 | SLC35A2 | c.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) | |
X | g.48905127C>A | CA412895230 | SLC35A2 | c.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) | |
X | g.48905127C= | CA2428428877 | SLC35A2 | c.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=) | |
X | g.48905127C>G | CA412895231 | SLC35A2 | c.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) | |
X | g.48905127C>T | CA412895232 | SLC35A2 | c.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 |
X | g.48905128G>A | CA412895233 | SLC35A2 | c.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 |
X | g.48905128G>C | CA412895234 | SLC35A2 | c.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) | |
X | g.48905128G= | CA2428428878 | SLC35A2 | c.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=) | |
X | g.48905128G>T | CA412895235 | SLC35A2 | c.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) | |
X | g.48905130del | CA2499226748 | SLC35A2 | c.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 |
X | g.48905129G>A | CA516360072 | SLC35A2 | c.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 |
X | g.48905129G>C | CA516360073 | SLC35A2 | c.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) | |
X | g.48905129G>T | CA516360074 | SLC35A2 | c.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) | |
X | g.48905130G>A | CA412895236 | SLC35A2 | c.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) | |
X | g.48905130G>C | CA412895237 | SLC35A2 | c.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) | |
X | g.48905130G>T | CA412895238 | SLC35A2 | c.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) | |
X | g.48905131T>A | CA412895239 | SLC35A2 | c.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) | |
X | g.48905131T>C | CA412895240 | SLC35A2 | c.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) | |
X | g.48905131T>G | CA412895241 | SLC35A2 | c.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) | |
X | g.48905132G>A | CA516360076 | SLC35A2 | c.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) | |
X | g.48905132G>C | CA516360077 | SLC35A2 | c.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) | |
X | g.48905132G>T | CA516360078 | SLC35A2 | c.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) | |
X | g.48905133G>A | CA412895244 | SLC35A2 | c.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 |
X | g.48905133G>C | CA412895243 | SLC35A2 | c.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) | |
X | g.48905133G= | CA2428428879 | SLC35A2 | c.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=) | |
X | g.48905133G>T | CA412895242 | SLC35A2 | c.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) | |
X | g.48905133_48906105delinsGCCACGGCGGTACCCTCAGCCCACCAGAGCCCCACCAGGCCCAGTGCTGTGCCGAAGAGGCCCAGTTGCAGGTTGCGCAGCCACACGGAGCCTGAGCTGCCTTTGAGGATCTTCTCAAAGTAGACACCTGCGAAGCCGGAGGAGAGACAGGAGGCCACGACGGCTGCCAGGCCTGCCCCAGGGTTCTGATCCAGTGGCCGTGGGCCTCCCCCACCGGCTTGCTGTGCCTGGACAATGGCGACGCCAGTGAAGAGGAGCAGCAGGGAGGCCCACTGCAGCCGGGAAAGGCTGCGATTCAGCATGAGCACGGAGAACAGCGCTGTGGTCAGGATCTTCAGCTGGTATGTCACCTGCGAGTGGCACGTGGAAGGCACTGAGGGCTGACCCTGGCCCCCAACAGGTGCACATGGGGGGCAGCACCCACTGTGGGCCCCCAGGCACAATGGAGGGACAGGGTGGGGGGTATGACAGCAAAAACAGCAAAAGGAGCCAGCCACTGGCCATTGGCTGAGCTGCAGCAAAACAGTTCTGAAGTCTCTCCCAGCAAGTGCACAAAAGGATGGCTGTGCCAAGAAGTCCACATCCCAATCCCATTTCCTGGCTGTGTGACTGGGGACAAAGCACTTGCCCTGTCTGAGCCCTGGCATCATCATCTATAAAAGATGGCTGAGGTATGGAAGTATCTTTGTGATGAGGGACTTGATACAAATGAATCAATAGCCACAACAATGTCAGCAAATACTTACATAGTGCTTACAATATATCAGTGTGGTTCTAGGCACTGCACGTGAATTCATTCATTTAATTCTCACAACACCATTCTGAAGTGAGCACCACTGTAAGCCCCAATTTAAAGGTGAGAAAACTAAGGCACAGAGAGGTTAGGTGACGTGCCCCAAAATCACACAGCTGGAAGGTAGCAGAGCTGAGATTTGAACCCAGACAGCCTGGCCCCAGAATCCAGGCTCTTTAA | CA2428428880 | SLC35A2 | c.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 | |
X | g.48905134C>A | CA412895245 | SLC35A2 | c.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) | |
X | g.48905134C= | CA2428428881 | SLC35A2 | c.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=) | |
X | g.48905134C>G | CA412895246 | SLC35A2 | c.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) | |
X | g.48905134C>T | CA10406097 | SLC35A2 | c.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 |
X | g.48905137_48906108del | CA16616606 | SLC35A2 | c.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 |
X | g.48905135C>A | CA516360090 | SLC35A2 | c.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) | |
X | g.48905135C>G | CA516360092 | SLC35A2 | c.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) | |
X | g.48905135C>T | CA516360093 | SLC35A2 | c.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) | |
X | g.48905136A>C | CA412895247 | SLC35A2 | c.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) | |
X | g.48905136A>G | CA412895249 | SLC35A2 | c.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) | |
X | g.48905136A>T | CA412895248 | SLC35A2 | c.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) | |
X | g.48905137C>A | CA412895250 | SLC35A2 | c.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) | |
X | g.48905137C= | CA2428428882 | SLC35A2 | c.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=) | |
X | g.48905137C>G | CA412895251 | SLC35A2 | c.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) | |
X | g.48905137C>T | CA412895252 | SLC35A2 | c.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 |
X | g.48905137_48905143del | CA916084082 | SLC35A2 | c.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) | |
X | g.48905138G>A | CA10406098 | SLC35A2 | c.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 |
X | g.48905138G>C | CA516360098 | SLC35A2 | c.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) | |
X | g.48905138G= | CA2428428883 | SLC35A2 | c.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=) | |
X | g.48905138G>T | CA516360099 | SLC35A2 | c.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) | |
X | g.48905139G>A | CA412895253 | SLC35A2 | c.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) | |
X | g.48905139G>C | CA412895254 | SLC35A2 | c.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) | |
X | g.48905139G>T | CA412895255 | SLC35A2 | c.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) | |
X | g.48905140C>A | CA412895256 | SLC35A2 | c.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) | |
X | g.48905140C= | CA2428428884 | SLC35A2 | c.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=) | |
X | g.48905140C>G | CA412895257 | SLC35A2 | c.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) | |
X | g.48905140C>T | CA412895258 | SLC35A2 | c.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 |
X | g.48905141G>A | CA10406099 | SLC35A2 | c.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 |
X | g.48905141G>C | CA516360111 | SLC35A2 | c.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) | |
X | g.48905141G= | CA2428428885 | SLC35A2 | c.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=) | |
X | g.48905141G>T | CA516360113 | SLC35A2 | c.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) | |
X | g.48905142G>A | CA412895261 | SLC35A2 | c.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) | |
X | g.48905142G>C | CA412895260 | SLC35A2 | c.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) | |
X | g.48905142G>T | CA412895259 | SLC35A2 | c.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) | |
X | g.48905143T>A | CA412895262 | SLC35A2 | c.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) | |
X | g.48905143T>C | CA412895263 | SLC35A2 | c.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) | |
X | g.48905143T>G | CA412895264 | SLC35A2 | c.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) | |
X | g.48905144A>C | CA516360117 | SLC35A2 | c.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) | |
X | g.48905144A>G | CA516360119 | SLC35A2 | c.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) | |
X | g.48905144A>T | CA516360122 | SLC35A2 | c.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) | |
X | g.48905145C>A | CA412895265 | SLC35A2 | c.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) | |
X | g.48905145C>G | CA412895266 | SLC35A2 | c.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) | |
X | g.48905145C>T | CA412895267 | SLC35A2 | c.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) | |
X | g.48905146C>A | CA412895268 | SLC35A2 | c.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) | |
X | g.48905146C>G | CA412895269 | SLC35A2 | c.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) | |
X | g.48905146C>T | CA412895270 | SLC35A2 | c.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) | |
X | g.48905147C>A | CA412895271 | SLC35A2 | c.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) | |
X | g.48905147C>G | CA412895272 | SLC35A2 | c.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) | |
X | g.48905147C>T | CA516360130 | SLC35A2 | c.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) | |
X | g.48905148T>A | CA412895275 | SLC35A2 | c.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) | |
X | g.48905148T>C | CA412895274 | SLC35A2 | c.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) | |
X | g.48905148T>G | CA412895273 | SLC35A2 | c.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) | |
X | g.48905149C>A | CA412895276 | SLC35A2 | c.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) | |
X | g.48905149C>G | CA412895277 | SLC35A2 | c.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) | |
X | g.48905149C>T | CA412895278 | SLC35A2 | c.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) | |
X | g.48905150A>C | CA516360139 | SLC35A2 | c.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) | |
X | g.48905150A>G | CA516360140 | SLC35A2 | c.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) | |
X | g.48905150A>T | CA516360141 | SLC35A2 | c.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 |
X | g.48905151G>A | CA412895279 | SLC35A2 | c.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) | |
X | g.48905151G>C | CA412895280 | SLC35A2 | c.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) | |
X | g.48905151G>T | CA412895281 | SLC35A2 | c.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) | |
X | g.48905152C>A | CA412895282 | SLC35A2 | c.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) | |
X | g.48905152C>G | CA412895283 | SLC35A2 | c.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) | |
X | g.48905152C>T | CA412895284 | SLC35A2 | c.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 |
X | g.48905160_48905170dup | CA2573158995 | SLC35A2 | c.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 |
X | g.48905153C>A | CA412895285 | SLC35A2 | c.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 |
X | g.48905153C>G | CA412895286 | SLC35A2 | c.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) | |
X | g.48905153C>T | CA412895287 | SLC35A2 | c.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) | |
X | g.48905154C>A | CA412895290 | SLC35A2 | c.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) | |
X | g.48905154C>G | CA412895288 | SLC35A2 | c.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) | |
X | g.48905154C>T | CA412895289 | SLC35A2 | c.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 |
X | g.48905155A>C | CA412895291 | SLC35A2 | c.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) | |
X | g.48905155A>G | CA412895292 | SLC35A2 | c.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) | |
X | g.48905155A>T | CA412895293 | SLC35A2 | c.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) | |
X | g.48905156C>A | CA412895294 | SLC35A2 | c.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) | |
X | g.48905156C>G | CA412895295 | SLC35A2 | c.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) | |
X | g.48905156C>T | CA412895296 | SLC35A2 | c.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) | |
X | g.48905157del | CA2695233838 | SLC35A2 | c.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) | |
X | g.48905157C>A | CA412895297 | SLC35A2 | c.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) | |
X | g.48905157C>G | CA412895298 | SLC35A2 | c.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) | |
X | g.48905157C>T | CA412895299 | SLC35A2 | c.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) | |
X | g.48905158A= | CA2428428886 | SLC35A2 | c.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=) | |
X | g.48905158A>C | CA412895300 | SLC35A2 | c.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 |
X | g.48905158A>G | CA412895301 | SLC35A2 | c.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 |
X | g.48905158A>T | CA412895302 | SLC35A2 | c.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) | |
X | g.48905159G>A | CA516360162 | SLC35A2 | c.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) | |
X | g.48905159G>C | CA10406100 | SLC35A2 | c.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 |
X | g.48905159G= | CA2428428887 | SLC35A2 | c.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=) | |
X | g.48905159G>T | CA516360163 | SLC35A2 | c.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) | |
X | g.48905160A>C | CA412895305 | SLC35A2 | c.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) | |
X | g.48905160A>G | CA412895303 | SLC35A2 | c.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) | |
X | g.48905160A>T | CA412895304 | SLC35A2 | c.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) | |
X | g.48905161G>A | CA412895306 | SLC35A2 | c.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 |
X | g.48905161G>C | CA412895307 | SLC35A2 | c.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) | |
X | g.48905161G>T | CA412895308 | SLC35A2 | c.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) | |
X | g.48905162C>A | CA10406101 | SLC35A2 | c.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 |
X | g.48905162C= | CA2428428888 | SLC35A2 | c.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=) | |
X | g.48905162C>G | CA516360172 | SLC35A2 | c.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) | |
X | g.48905162C>T | CA10406102 | SLC35A2 | c.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 |
X | g.48905163C>A | CA412895309 | SLC35A2 | c.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) | |
X | g.48905163C>G | CA412895310 | SLC35A2 | c.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) | |
X | g.48905163C>T | CA412895311 | SLC35A2 | c.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) | |
X | g.48905164C>A | CA412895312 | SLC35A2 | c.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) | |
X | g.48905164C>G | CA412895313 | SLC35A2 | c.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) | |
X | g.48905164C>T | CA412895314 | SLC35A2 | c.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) | |
X | g.48905165C>A | CA516360180 | SLC35A2 | c.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) | |
X | g.48905165C>G | CA516360181 | SLC35A2 | c.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) | |
X | g.48905165C>T | CA516360182 | SLC35A2 | c.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) | |
X | g.48905166A>C | CA412895317 | SLC35A2 | c.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) | |
X | g.48905166A>G | CA412895316 | SLC35A2 | c.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) | |
X | g.48905166A>T | CA412895315 | SLC35A2 | c.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) | |
X | g.48905167C>A | CA412895318 | SLC35A2 | c.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) | |
X | g.48905167C>G | CA412895319 | SLC35A2 | c.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) | |
X | g.48905167C>T | CA412895320 | SLC35A2 | c.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) | |
X | g.48905168C>A | CA516359987 | SLC35A2 | c.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) | |
X | g.48905168C>G | CA516359988 | SLC35A2 | c.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) | |
X | g.48905168C>T | CA516359989 | SLC35A2 | c.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) | |
X | g.48905169A>C | CA412895321 | SLC35A2 | c.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) | |
X | g.48905169A>G | CA412895322 | SLC35A2 | c.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) | |
X | g.48905169A>T | CA412895323 | SLC35A2 | c.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) | |
X | g.48905170G>A | CA516359992 | SLC35A2 | c.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) | |
X | g.48905170G>C | CA412895324 | SLC35A2 | c.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) | |
X | g.48905170G>T | CA412895325 | SLC35A2 | c.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) | |
X | g.48905171G>A | CA516359993 | SLC35A2 | c.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) | |
X | g.48905171G>C | CA516359994 | SLC35A2 | c.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) | |
X | g.48905171G>T | CA516359995 | SLC35A2 | c.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) | |
X | g.48905172C>A | CA412895326 | SLC35A2 | c.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) | |
X | g.48905172C>G | CA412895327 | SLC35A2 | c.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) | |
X | g.48905172C>T | CA412895328 | SLC35A2 | c.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 |
X | g.48905173C>A | CA412895329 | SLC35A2 | c.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) | |
X | g.48905173C>G | CA412895330 | SLC35A2 | c.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) | |
X | g.48905173C>T | CA412895331 | SLC35A2 | c.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) | |
X | g.48905174C>A | CA516359999 | SLC35A2 | c.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) | |
X | g.48905174C>G | CA516360001 | SLC35A2 | c.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) | |
X | g.48905174C>T | CA516360000 | SLC35A2 | c.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 |
X | g.48905175A>C | CA412895333 | SLC35A2 | c.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) | |
X | g.48905175A>G | CA412895334 | SLC35A2 | c.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) | |
X | g.48905175A>T | CA412895332 | SLC35A2 | c.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) | |
X | g.48905176G>A | CA516360002 | SLC35A2 | c.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) | |
X | g.48905176G>C | CA412895335 | SLC35A2 | c.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) | |
X | g.48905176G>T | CA412895336 | SLC35A2 | c.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) | |
X | g.48905177T>A | CA516360003 | SLC35A2 | c.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) | |
X | g.48905177T>C | CA516360004 | SLC35A2 | c.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 |
X | g.48905177T>G | CA516360005 | SLC35A2 | c.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) | |
X | g.48905177T= | CA2428428889 | SLC35A2 | c.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=) | |
X | g.48905178G>A | CA412895337 | SLC35A2 | c.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 |
X | g.48905178G>C | CA412895338 | SLC35A2 | c.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) | |
X | g.48905178G= | CA2428428890 | SLC35A2 | c.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=) | |
X | g.48905178G>T | CA412895339 | SLC35A2 | c.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) | |
X | g.48905179C>A | CA412895340 | SLC35A2 | c.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) | |
X | g.48905179C>G | CA412895341 | SLC35A2 | c.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) | |
X | g.48905179C>T | CA412895342 | SLC35A2 | c.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) | |
X | g.48905180T>A | CA516360009 | SLC35A2 | c.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) | |
X | g.48905180T>C | CA10406103 | SLC35A2 | c.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 |
X | g.48905180T>G | CA516360010 | SLC35A2 | c.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) | |
X | g.48905180T= | CA2428428891 | SLC35A2 | c.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=) | |
X | g.48905181G>A | CA412895343 | SLC35A2 | c.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 |
X | g.48905181G>C | CA412895344 | SLC35A2 | c.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) | |
X | g.48905181G= | CA2428428892 | SLC35A2 | c.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=) | |
X | g.48905181G>T | CA412895345 | SLC35A2 | c.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) | |
X | g.48905182T>A | CA412895348 | SLC35A2 | c.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) | |
X | g.48905182T>C | CA412895346 | SLC35A2 | c.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) | |
X | g.48905182T>G | CA412895347 | SLC35A2 | c.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) | |
X | g.48905183G>A | CA516360013 | SLC35A2 | c.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) | |
X | g.48905183G>C | CA516360014 | SLC35A2 | c.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) | |
X | g.48905183G>T | CA516360015 | SLC35A2 | c.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) | |
X | g.48905184C>A | CA412895349 | SLC35A2 | c.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) | |
X | g.48905184C>G | CA412895350 | SLC35A2 | c.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) | |
X | g.48905184C>T | CA412895351 | SLC35A2 | c.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) | |
X | g.48905185C>A | CA412895352 | SLC35A2 | c.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 |
X | g.48905185C= | CA2428428893 | SLC35A2 | c.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=) | |
X | g.48905185C>G | CA412895353 | SLC35A2 | c.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) | |
X | g.48905185C>T | CA412895354 | SLC35A2 | c.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 |
X | g.48905186G>A | CA329098890 | SLC35A2 | c.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 |
X | g.48905186G>C | CA412895355 | SLC35A2 | c.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) | |
X | g.48905186G= | CA2428428894 | SLC35A2 | c.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=) | |
X | g.48905186G>T | CA412895356 | SLC35A2 | c.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) | |
X | g.48905187A>C | CA412895357 | SLC35A2 | c.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) | |
X | g.48905187A>G | CA412895358 | SLC35A2 | c.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) | |
X | g.48905187A>T | CA412895359 | SLC35A2 | c.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) | |
X | g.48905188A>C | CA412895361 | SLC35A2 | c.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) | |
X | g.48905188A>G | CA412895362 | SLC35A2 | c.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) | |
X | g.48905188A>T | CA412895360 | SLC35A2 | c.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) | |
X | g.48905189G>A | CA516360027 | SLC35A2 | c.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) | |
X | g.48905189G>C | CA516360024 | SLC35A2 | c.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) | |
X | g.48905189G>T | CA516360026 | SLC35A2 | c.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) | |
X | g.48905190A>C | CA412895364 | SLC35A2 | c.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) | |
X | g.48905190A>G | CA412895363 | SLC35A2 | c.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) | |
X | g.48905190A>T | CA412895365 | SLC35A2 | c.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) | |
X | g.48905191G>A | CA412895366 | SLC35A2 | c.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 |
X | g.48905191G>C | CA412895368 | SLC35A2 | c.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 |
X | g.48905191G= | CA2428428895 | SLC35A2 | c.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=) | |
X | g.48905191G>T | CA412895367 | SLC35A2 | c.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) | |
X | g.48905192G>A | CA516360028 | SLC35A2 | c.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) | |
X | g.48905192G>C | CA516360030 | SLC35A2 | c.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) | |
X | g.48905192G>T | CA516360031 | SLC35A2 | c.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) | |
X | g.48905193C>A | CA412895369 | SLC35A2 | c.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) | |
X | g.48905193C>G | CA412895370 | SLC35A2 | c.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) | |
X | g.48905193C>T | CA412895371 | SLC35A2 | c.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) | |
X | g.48905194C>A | CA412895372 | SLC35A2 | c.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) | |
X | g.48905194C>G | CA412895373 | SLC35A2 | c.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) | |
X | g.48905194C>T | CA412895374 | SLC35A2 | c.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) | |
X | g.48905195C>A | CA516360035 | SLC35A2 | c.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 |
X | g.48905195C>G | CA516360033 | SLC35A2 | c.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) | |
X | g.48905195C>T | CA516360037 | SLC35A2 | c.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) |