Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73615310C>TCA2679403760SLC17A5c.1111+5G>A (n.1111+5G>A)
c.1060+5G>A (n.1060+5G>A)
c.913+5G>A (n.913+5G>A)
c.880+5G>A (n.880+5G>A)
c.1132+5G>A (n.1132+5G>A)
c.1024+5G>A (n.1024+5G>A)
c.952+5G>A (n.952+5G>A)
c.1108+5G>A (n.1108+5G>A)
c.793+5G>A (n.793+5G>A)
 gnomAD v4
6g.73615312T>CCA2578694409SLC17A5c.1111+3A>G (n.1111+3A>G)
c.1060+3A>G (n.1060+3A>G)
c.913+3A>G (n.913+3A>G)
c.880+3A>G (n.880+3A>G)
c.1132+3A>G (n.1132+3A>G)
c.1024+3A>G (n.1024+3A>G)
c.952+3A>G (n.952+3A>G)
c.1108+3A>G (n.1108+3A>G)
c.793+3A>G (n.793+3A>G)
6g.73615312_73615317delinsTACCTACA1638231791SLC17A5c.1109_1111+3delinsTAGGTA
c.1058_1060+3delinsTAGGTA
c.911_913+3delinsTAGGTA
c.878_880+3delinsTAGGTA
c.1130_1132+3delinsTAGGTA
c.1022_1024+3delinsTAGGTA
c.950_952+3delinsTAGGTA
c.1106_1108+3delinsTAGGTA
c.791_793+3delinsTAGGTA
6g.73615313A>CCA364712135SLC17A5c.1111+2T>G (n.1111+2T>G)
c.1060+2T>G (n.1060+2T>G)
c.913+2T>G (n.913+2T>G)
c.880+2T>G (n.880+2T>G)
c.1132+2T>G (n.1132+2T>G)
c.1024+2T>G (n.1024+2T>G)
c.952+2T>G (n.952+2T>G)
c.1108+2T>G (n.1108+2T>G)
c.793+2T>G (n.793+2T>G)
6g.73615313A>GCA364712136SLC17A5c.1111+2T>C (n.1111+2T>C)
c.1060+2T>C (n.1060+2T>C)
c.913+2T>C (n.913+2T>C)
c.880+2T>C (n.880+2T>C)
c.1132+2T>C (n.1132+2T>C)
c.1024+2T>C (n.1024+2T>C)
c.952+2T>C (n.952+2T>C)
c.1108+2T>C (n.1108+2T>C)
c.793+2T>C (n.793+2T>C)
6g.73615313A>TCA364712137SLC17A5c.1111+2T>A (n.1111+2T>A)
c.1060+2T>A (n.1060+2T>A)
c.913+2T>A (n.913+2T>A)
c.880+2T>A (n.880+2T>A)
c.1132+2T>A (n.1132+2T>A)
c.1024+2T>A (n.1024+2T>A)
c.952+2T>A (n.952+2T>A)
c.1108+2T>A (n.1108+2T>A)
c.793+2T>A (n.793+2T>A)
6g.73615313dupCA2578694410SLC17A5c.1111+2dup (n.1111+2dup)
c.1060+2dup (n.1060+2dup)
c.913+2dup (n.913+2dup)
c.880+2dup (n.880+2dup)
c.1132+2dup (n.1132+2dup)
c.1024+2dup (n.1024+2dup)
c.952+2dup (n.952+2dup)
c.1108+2dup (n.1108+2dup)
c.793+2dup (n.793+2dup)
6g.73615313_73615317delCA1090517755SLC17A5c.1109_1111+2del
c.1058_1060+2del
c.911_913+2del
c.878_880+2del
c.1130_1132+2del
c.1022_1024+2del
c.950_952+2del
c.1106_1108+2del
c.791_793+2del
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.73615314C>ACA364712138SLC17A5c.1111+1G>T (n.1111+1G>T)
c.1060+1G>T (n.1060+1G>T)
c.913+1G>T (n.913+1G>T)
c.880+1G>T (n.880+1G>T)
c.1132+1G>T (n.1132+1G>T)
c.1024+1G>T (n.1024+1G>T)
c.952+1G>T (n.952+1G>T)
c.1108+1G>T (n.1108+1G>T)
c.793+1G>T (n.793+1G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73615314C=CA1638231792SLC17A5c.1111+1G= (n.1111+1G=)
c.1060+1G= (n.1060+1G=)
c.913+1G= (n.913+1G=)
c.880+1G= (n.880+1G=)
c.1132+1G= (n.1132+1G=)
c.1024+1G= (n.1024+1G=)
c.952+1G= (n.952+1G=)
c.1108+1G= (n.1108+1G=)
c.793+1G= (n.793+1G=)
6g.73615314C>GCA364712139SLC17A5c.1111+1G>C (n.1111+1G>C)
c.1060+1G>C (n.1060+1G>C)
c.913+1G>C (n.913+1G>C)
c.880+1G>C (n.880+1G>C)
c.1132+1G>C (n.1132+1G>C)
c.1024+1G>C (n.1024+1G>C)
c.952+1G>C (n.952+1G>C)
c.1108+1G>C (n.1108+1G>C)
c.793+1G>C (n.793+1G>C)
6g.73615314C>TCA3890354SLC17A5c.1111+1G>A (n.1111+1G>A)
c.1060+1G>A (n.1060+1G>A)
c.913+1G>A (n.913+1G>A)
c.880+1G>A (n.880+1G>A)
c.1132+1G>A (n.1132+1G>A)
c.1024+1G>A (n.1024+1G>A)
c.952+1G>A (n.952+1G>A)
c.1108+1G>A (n.1108+1G>A)
c.793+1G>A (n.793+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615315C>ACA364712142SLC17A5c.1111G>T (p.Gly371Ter)
c.1060G>T (p.Gly354Ter)
c.913G>T (p.Gly305Ter)
c.1111G>T (p.Gly371Cys)
c.880G>T (p.Gly294Ter)
c.1132G>T (p.Gly378Ter)
c.1024G>T (p.Gly342Ter)
c.952G>T (p.Gly318Ter)
c.1108G>T (p.Gly370Ter)
c.793G>T (p.Gly265Ter)
6g.73615315C=CA1638231793SLC17A5c.1111G= (p.Gly371=)
c.1060G= (p.Gly354=)
c.913G= (p.Gly305=)
c.880G= (p.Gly294=)
c.1132G= (p.Gly378=)
c.1024G= (p.Gly342=)
c.952G= (p.Gly318=)
c.1108G= (p.Gly370=)
c.793G= (p.Gly265=)
6g.73615315C>GCA364712141SLC17A5c.1111G>C (p.Gly371Arg)
c.1060G>C (p.Gly354Arg)
c.913G>C (p.Gly305Arg)
c.880G>C (p.Gly294Arg)
c.1132G>C (p.Gly378Arg)
c.1024G>C (p.Gly342Arg)
c.952G>C (p.Gly318Arg)
c.1108G>C (p.Gly370Arg)
c.793G>C (p.Gly265Arg)
 gnomAD v4
6g.73615315C>TCA364712140SLC17A5c.1111G>A (p.Gly371Arg)
c.1060G>A (p.Gly354Arg)
c.913G>A (p.Gly305Arg)
c.1111G>A (p.Gly371Ser)
c.880G>A (p.Gly294Arg)
c.1132G>A (p.Gly378Arg)
c.1024G>A (p.Gly342Arg)
c.952G>A (p.Gly318Arg)
c.1108G>A (p.Gly370Arg)
c.793G>A (p.Gly265Arg)
 ClinVar dbSNP gnomAD v4
6g.73615316T>ACA450910015SLC17A5c.1110A>T (p.Ile370=)
c.1059A>T (p.Ile353=)
c.912A>T (p.Ile304=)
c.879A>T (p.Ile293=)
c.1131A>T (p.Ile377=)
c.1023A>T (p.Ile341=)
c.951A>T (p.Ile317=)
c.1107A>T (p.Ile369=)
c.792A>T (p.Ile264=)
6g.73615316T>CCA364712143SLC17A5c.1110A>G (p.Ile370Met)
c.1059A>G (p.Ile353Met)
c.912A>G (p.Ile304Met)
c.879A>G (p.Ile293Met)
c.1131A>G (p.Ile377Met)
c.1023A>G (p.Ile341Met)
c.951A>G (p.Ile317Met)
c.1107A>G (p.Ile369Met)
c.792A>G (p.Ile264Met)
6g.73615316T>GCA450910016SLC17A5c.1110A>C (p.Ile370=)
c.1059A>C (p.Ile353=)
c.912A>C (p.Ile304=)
c.879A>C (p.Ile293=)
c.1131A>C (p.Ile377=)
c.1023A>C (p.Ile341=)
c.951A>C (p.Ile317=)
c.1107A>C (p.Ile369=)
c.792A>C (p.Ile264=)
 gnomAD v4
6g.73615317A>CCA364712144SLC17A5c.1109T>G (p.Ile370Arg)
c.1058T>G (p.Ile353Arg)
c.911T>G (p.Ile304Arg)
c.878T>G (p.Ile293Arg)
c.1130T>G (p.Ile377Arg)
c.1022T>G (p.Ile341Arg)
c.950T>G (p.Ile317Arg)
c.1106T>G (p.Ile369Arg)
c.791T>G (p.Ile264Arg)
6g.73615317A>GCA364712145SLC17A5c.1109T>C (p.Ile370Thr)
c.1058T>C (p.Ile353Thr)
c.911T>C (p.Ile304Thr)
c.878T>C (p.Ile293Thr)
c.1130T>C (p.Ile377Thr)
c.1022T>C (p.Ile341Thr)
c.950T>C (p.Ile317Thr)
c.1106T>C (p.Ile369Thr)
c.791T>C (p.Ile264Thr)
 gnomAD v4
6g.73615317A>TCA364712146SLC17A5c.1109T>A (p.Ile370Lys)
c.1058T>A (p.Ile353Lys)
c.911T>A (p.Ile304Lys)
c.878T>A (p.Ile293Lys)
c.1130T>A (p.Ile377Lys)
c.1022T>A (p.Ile341Lys)
c.950T>A (p.Ile317Lys)
c.1106T>A (p.Ile369Lys)
c.791T>A (p.Ile264Lys)
6g.73615318T>ACA3890355SLC17A5c.1108A>T (p.Ile370Leu)
c.1057A>T (p.Ile353Leu)
c.910A>T (p.Ile304Leu)
c.877A>T (p.Ile293Leu)
c.1129A>T (p.Ile377Leu)
c.1021A>T (p.Ile341Leu)
c.949A>T (p.Ile317Leu)
c.1105A>T (p.Ile369Leu)
c.790A>T (p.Ile264Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615318T>CCA364712147SLC17A5c.1108A>G (p.Ile370Val)
c.1057A>G (p.Ile353Val)
c.910A>G (p.Ile304Val)
c.877A>G (p.Ile293Val)
c.1129A>G (p.Ile377Val)
c.1021A>G (p.Ile341Val)
c.949A>G (p.Ile317Val)
c.1105A>G (p.Ile369Val)
c.790A>G (p.Ile264Val)
6g.73615318T>GCA364712148SLC17A5c.1108A>C (p.Ile370Leu)
c.1057A>C (p.Ile353Leu)
c.910A>C (p.Ile304Leu)
c.877A>C (p.Ile293Leu)
c.1129A>C (p.Ile377Leu)
c.1021A>C (p.Ile341Leu)
c.949A>C (p.Ile317Leu)
c.1105A>C (p.Ile369Leu)
c.790A>C (p.Ile264Leu)
6g.73615318T=CA1638231794SLC17A5c.1108A= (p.Ile370=)
c.1057A= (p.Ile353=)
c.910A= (p.Ile304=)
c.877A= (p.Ile293=)
c.1129A= (p.Ile377=)
c.1021A= (p.Ile341=)
c.949A= (p.Ile317=)
c.1105A= (p.Ile369=)
c.790A= (p.Ile264=)
6g.73615319A>CCA450910017SLC17A5c.1107T>G (p.Leu369=)
c.1056T>G (p.Leu352=)
c.909T>G (p.Leu303=)
c.876T>G (p.Leu292=)
c.1128T>G (p.Leu376=)
c.1020T>G (p.Leu340=)
c.948T>G (p.Leu316=)
c.1104T>G (p.Leu368=)
c.789T>G (p.Leu263=)
6g.73615319A>GCA450910018SLC17A5c.1107T>C (p.Leu369=)
c.1056T>C (p.Leu352=)
c.909T>C (p.Leu303=)
c.876T>C (p.Leu292=)
c.1128T>C (p.Leu376=)
c.1020T>C (p.Leu340=)
c.948T>C (p.Leu316=)
c.1104T>C (p.Leu368=)
c.789T>C (p.Leu263=)
6g.73615319A>TCA450910019SLC17A5c.1107T>A (p.Leu369=)
c.1056T>A (p.Leu352=)
c.909T>A (p.Leu303=)
c.876T>A (p.Leu292=)
c.1128T>A (p.Leu376=)
c.1020T>A (p.Leu340=)
c.948T>A (p.Leu316=)
c.1104T>A (p.Leu368=)
c.789T>A (p.Leu263=)
 gnomAD v4
6g.73615320A>CCA364712149SLC17A5c.1106T>G (p.Leu369Arg)
c.1055T>G (p.Leu352Arg)
c.908T>G (p.Leu303Arg)
c.875T>G (p.Leu292Arg)
c.1127T>G (p.Leu376Arg)
c.1019T>G (p.Leu340Arg)
c.947T>G (p.Leu316Arg)
c.1103T>G (p.Leu368Arg)
c.788T>G (p.Leu263Arg)
6g.73615320A>GCA364712150SLC17A5c.1106T>C (p.Leu369Pro)
c.1055T>C (p.Leu352Pro)
c.908T>C (p.Leu303Pro)
c.875T>C (p.Leu292Pro)
c.1127T>C (p.Leu376Pro)
c.1019T>C (p.Leu340Pro)
c.947T>C (p.Leu316Pro)
c.1103T>C (p.Leu368Pro)
c.788T>C (p.Leu263Pro)
6g.73615320A>TCA364712151SLC17A5c.1106T>A (p.Leu369His)
c.1055T>A (p.Leu352His)
c.908T>A (p.Leu303His)
c.875T>A (p.Leu292His)
c.1127T>A (p.Leu376His)
c.1019T>A (p.Leu340His)
c.947T>A (p.Leu316His)
c.1103T>A (p.Leu368His)
c.788T>A (p.Leu263His)
6g.73615321G>ACA364712152SLC17A5c.1105C>T (p.Leu369Phe)
c.1054C>T (p.Leu352Phe)
c.907C>T (p.Leu303Phe)
c.874C>T (p.Leu292Phe)
c.1126C>T (p.Leu376Phe)
c.1018C>T (p.Leu340Phe)
c.946C>T (p.Leu316Phe)
c.1102C>T (p.Leu368Phe)
c.787C>T (p.Leu263Phe)
 gnomAD v4
6g.73615321G>CCA364712153SLC17A5c.1105C>G (p.Leu369Val)
c.1054C>G (p.Leu352Val)
c.907C>G (p.Leu303Val)
c.874C>G (p.Leu292Val)
c.1126C>G (p.Leu376Val)
c.1018C>G (p.Leu340Val)
c.946C>G (p.Leu316Val)
c.1102C>G (p.Leu368Val)
c.787C>G (p.Leu263Val)
6g.73615321G>TCA364712154SLC17A5c.1105C>A (p.Leu369Ile)
c.1054C>A (p.Leu352Ile)
c.907C>A (p.Leu303Ile)
c.874C>A (p.Leu292Ile)
c.1126C>A (p.Leu376Ile)
c.1018C>A (p.Leu340Ile)
c.946C>A (p.Leu316Ile)
c.1102C>A (p.Leu368Ile)
c.787C>A (p.Leu263Ile)
6g.73615322G>ACA450910020SLC17A5c.1104C>T (p.Ser368=)
c.1053C>T (p.Ser351=)
c.906C>T (p.Ser302=)
c.873C>T (p.Ser291=)
c.1125C>T (p.Ser375=)
c.1017C>T (p.Ser339=)
c.945C>T (p.Ser315=)
c.1101C>T (p.Ser367=)
c.786C>T (p.Ser262=)
6g.73615322G>CCA364712155SLC17A5c.1104C>G (p.Ser368Arg)
c.1053C>G (p.Ser351Arg)
c.906C>G (p.Ser302Arg)
c.873C>G (p.Ser291Arg)
c.1125C>G (p.Ser375Arg)
c.1017C>G (p.Ser339Arg)
c.945C>G (p.Ser315Arg)
c.1101C>G (p.Ser367Arg)
c.786C>G (p.Ser262Arg)
 dbSNP
6g.73615322G=CA1638231795SLC17A5c.1104C= (p.Ser368=)
c.1053C= (p.Ser351=)
c.906C= (p.Ser302=)
c.873C= (p.Ser291=)
c.1125C= (p.Ser375=)
c.1017C= (p.Ser339=)
c.945C= (p.Ser315=)
c.1101C= (p.Ser367=)
c.786C= (p.Ser262=)
6g.73615322G>TCA364712156SLC17A5c.1104C>A (p.Ser368Arg)
c.1053C>A (p.Ser351Arg)
c.906C>A (p.Ser302Arg)
c.873C>A (p.Ser291Arg)
c.1125C>A (p.Ser375Arg)
c.1017C>A (p.Ser339Arg)
c.945C>A (p.Ser315Arg)
c.1101C>A (p.Ser367Arg)
c.786C>A (p.Ser262Arg)
6g.73615323C>ACA364712157SLC17A5c.1103G>T (p.Ser368Ile)
c.1052G>T (p.Ser351Ile)
c.905G>T (p.Ser302Ile)
c.872G>T (p.Ser291Ile)
c.1124G>T (p.Ser375Ile)
c.1016G>T (p.Ser339Ile)
c.944G>T (p.Ser315Ile)
c.1100G>T (p.Ser367Ile)
c.785G>T (p.Ser262Ile)
6g.73615323C>GCA364712158SLC17A5c.1103G>C (p.Ser368Thr)
c.1052G>C (p.Ser351Thr)
c.905G>C (p.Ser302Thr)
c.872G>C (p.Ser291Thr)
c.1124G>C (p.Ser375Thr)
c.1016G>C (p.Ser339Thr)
c.944G>C (p.Ser315Thr)
c.1100G>C (p.Ser367Thr)
c.785G>C (p.Ser262Thr)
 gnomAD v4
6g.73615323C>TCA364712159SLC17A5c.1103G>A (p.Ser368Asn)
c.1052G>A (p.Ser351Asn)
c.905G>A (p.Ser302Asn)
c.872G>A (p.Ser291Asn)
c.1124G>A (p.Ser375Asn)
c.1016G>A (p.Ser339Asn)
c.944G>A (p.Ser315Asn)
c.1100G>A (p.Ser367Asn)
c.785G>A (p.Ser262Asn)
6g.73615324T>ACA364712160SLC17A5c.1102A>T (p.Ser368Cys)
c.1051A>T (p.Ser351Cys)
c.904A>T (p.Ser302Cys)
c.871A>T (p.Ser291Cys)
c.1123A>T (p.Ser375Cys)
c.1015A>T (p.Ser339Cys)
c.943A>T (p.Ser315Cys)
c.1099A>T (p.Ser367Cys)
c.784A>T (p.Ser262Cys)
6g.73615324T>CCA364712161SLC17A5c.1102A>G (p.Ser368Gly)
c.1051A>G (p.Ser351Gly)
c.904A>G (p.Ser302Gly)
c.871A>G (p.Ser291Gly)
c.1123A>G (p.Ser375Gly)
c.1015A>G (p.Ser339Gly)
c.943A>G (p.Ser315Gly)
c.1099A>G (p.Ser367Gly)
c.784A>G (p.Ser262Gly)
6g.73615324T>GCA364712162SLC17A5c.1102A>C (p.Ser368Arg)
c.1051A>C (p.Ser351Arg)
c.904A>C (p.Ser302Arg)
c.871A>C (p.Ser291Arg)
c.1123A>C (p.Ser375Arg)
c.1015A>C (p.Ser339Arg)
c.943A>C (p.Ser315Arg)
c.1099A>C (p.Ser367Arg)
c.784A>C (p.Ser262Arg)
6g.73615325A>CCA364712163SLC17A5c.1101T>G (p.Phe367Leu)
c.1050T>G (p.Phe350Leu)
c.903T>G (p.Phe301Leu)
c.870T>G (p.Phe290Leu)
c.1122T>G (p.Phe374Leu)
c.1014T>G (p.Phe338Leu)
c.942T>G (p.Phe314Leu)
c.1098T>G (p.Phe366Leu)
c.783T>G (p.Phe261Leu)
6g.73615325A>GCA450910021SLC17A5c.1101T>C (p.Phe367=)
c.1050T>C (p.Phe350=)
c.903T>C (p.Phe301=)
c.870T>C (p.Phe290=)
c.1122T>C (p.Phe374=)
c.1014T>C (p.Phe338=)
c.942T>C (p.Phe314=)
c.1098T>C (p.Phe366=)
c.783T>C (p.Phe261=)
6g.73615325A>TCA364712164SLC17A5c.1101T>A (p.Phe367Leu)
c.1050T>A (p.Phe350Leu)
c.903T>A (p.Phe301Leu)
c.870T>A (p.Phe290Leu)
c.1122T>A (p.Phe374Leu)
c.1014T>A (p.Phe338Leu)
c.942T>A (p.Phe314Leu)
c.1098T>A (p.Phe366Leu)
c.783T>A (p.Phe261Leu)
6g.73615326A=CA1638231796SLC17A5c.1100T= (p.Phe367=)
c.1049T= (p.Phe350=)
c.902T= (p.Phe301=)
c.869T= (p.Phe290=)
c.1121T= (p.Phe374=)
c.1013T= (p.Phe338=)
c.941T= (p.Phe314=)
c.1097T= (p.Phe366=)
c.782T= (p.Phe261=)
6g.73615326A>CCA3890356SLC17A5c.1100T>G (p.Phe367Cys)
c.1049T>G (p.Phe350Cys)
c.902T>G (p.Phe301Cys)
c.869T>G (p.Phe290Cys)
c.1121T>G (p.Phe374Cys)
c.1013T>G (p.Phe338Cys)
c.941T>G (p.Phe314Cys)
c.1097T>G (p.Phe366Cys)
c.782T>G (p.Phe261Cys)
 dbSNP ExAC gnomAD v2
6g.73615326A>GCA364712165SLC17A5c.1100T>C (p.Phe367Ser)
c.1049T>C (p.Phe350Ser)
c.902T>C (p.Phe301Ser)
c.869T>C (p.Phe290Ser)
c.1121T>C (p.Phe374Ser)
c.1013T>C (p.Phe338Ser)
c.941T>C (p.Phe314Ser)
c.1097T>C (p.Phe366Ser)
c.782T>C (p.Phe261Ser)
6g.73615326A>TCA364712166SLC17A5c.1100T>A (p.Phe367Tyr)
c.1049T>A (p.Phe350Tyr)
c.902T>A (p.Phe301Tyr)
c.869T>A (p.Phe290Tyr)
c.1121T>A (p.Phe374Tyr)
c.1013T>A (p.Phe338Tyr)
c.941T>A (p.Phe314Tyr)
c.1097T>A (p.Phe366Tyr)
c.782T>A (p.Phe261Tyr)
6g.73615327A>CCA364712167SLC17A5c.1099T>G (p.Phe367Val)
c.1048T>G (p.Phe350Val)
c.901T>G (p.Phe301Val)
c.868T>G (p.Phe290Val)
c.1120T>G (p.Phe374Val)
c.1012T>G (p.Phe338Val)
c.940T>G (p.Phe314Val)
c.1096T>G (p.Phe366Val)
c.781T>G (p.Phe261Val)
6g.73615327A>GCA364712168SLC17A5c.1099T>C (p.Phe367Leu)
c.1048T>C (p.Phe350Leu)
c.901T>C (p.Phe301Leu)
c.868T>C (p.Phe290Leu)
c.1120T>C (p.Phe374Leu)
c.1012T>C (p.Phe338Leu)
c.940T>C (p.Phe314Leu)
c.1096T>C (p.Phe366Leu)
c.781T>C (p.Phe261Leu)
6g.73615327A>TCA364712169SLC17A5c.1099T>A (p.Phe367Ile)
c.1048T>A (p.Phe350Ile)
c.901T>A (p.Phe301Ile)
c.868T>A (p.Phe290Ile)
c.1120T>A (p.Phe374Ile)
c.1012T>A (p.Phe338Ile)
c.940T>A (p.Phe314Ile)
c.1096T>A (p.Phe366Ile)
c.781T>A (p.Phe261Ile)
6g.73615328A>CCA364712170SLC17A5c.1098T>G (p.Ile366Met)
c.1047T>G (p.Ile349Met)
c.900T>G (p.Ile300Met)
c.867T>G (p.Ile289Met)
c.1119T>G (p.Ile373Met)
c.1011T>G (p.Ile337Met)
c.939T>G (p.Ile313Met)
c.1095T>G (p.Ile365Met)
c.780T>G (p.Ile260Met)
6g.73615328A>GCA450910022SLC17A5c.1098T>C (p.Ile366=)
c.1047T>C (p.Ile349=)
c.900T>C (p.Ile300=)
c.867T>C (p.Ile289=)
c.1119T>C (p.Ile373=)
c.1011T>C (p.Ile337=)
c.939T>C (p.Ile313=)
c.1095T>C (p.Ile365=)
c.780T>C (p.Ile260=)
6g.73615328A>TCA450910023SLC17A5c.1098T>A (p.Ile366=)
c.1047T>A (p.Ile349=)
c.900T>A (p.Ile300=)
c.867T>A (p.Ile289=)
c.1119T>A (p.Ile373=)
c.1011T>A (p.Ile337=)
c.939T>A (p.Ile313=)
c.1095T>A (p.Ile365=)
c.780T>A (p.Ile260=)
6g.73615329A=CA1638231797SLC17A5c.1097T= (p.Ile366=)
c.1046T= (p.Ile349=)
c.899T= (p.Ile300=)
c.866T= (p.Ile289=)
c.1118T= (p.Ile373=)
c.1010T= (p.Ile337=)
c.938T= (p.Ile313=)
c.1094T= (p.Ile365=)
c.779T= (p.Ile260=)
6g.73615329A>CCA364712171SLC17A5c.1097T>G (p.Ile366Ser)
c.1046T>G (p.Ile349Ser)
c.899T>G (p.Ile300Ser)
c.866T>G (p.Ile289Ser)
c.1118T>G (p.Ile373Ser)
c.1010T>G (p.Ile337Ser)
c.938T>G (p.Ile313Ser)
c.1094T>G (p.Ile365Ser)
c.779T>G (p.Ile260Ser)
6g.73615329A>GCA364712172SLC17A5c.1097T>C (p.Ile366Thr)
c.1046T>C (p.Ile349Thr)
c.899T>C (p.Ile300Thr)
c.866T>C (p.Ile289Thr)
c.1118T>C (p.Ile373Thr)
c.1010T>C (p.Ile337Thr)
c.938T>C (p.Ile313Thr)
c.1094T>C (p.Ile365Thr)
c.779T>C (p.Ile260Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.73615329A>TCA3890357SLC17A5c.1097T>A (p.Ile366Asn)
c.1046T>A (p.Ile349Asn)
c.899T>A (p.Ile300Asn)
c.866T>A (p.Ile289Asn)
c.1118T>A (p.Ile373Asn)
c.1010T>A (p.Ile337Asn)
c.938T>A (p.Ile313Asn)
c.1094T>A (p.Ile365Asn)
c.779T>A (p.Ile260Asn)
 dbSNP ExAC gnomAD v2
6g.73615330T>ACA364712173SLC17A5c.1096A>T (p.Ile366Phe)
c.1045A>T (p.Ile349Phe)
c.898A>T (p.Ile300Phe)
c.865A>T (p.Ile289Phe)
c.1117A>T (p.Ile373Phe)
c.1009A>T (p.Ile337Phe)
c.937A>T (p.Ile313Phe)
c.1093A>T (p.Ile365Phe)
c.778A>T (p.Ile260Phe)
6g.73615330T>CCA364712174SLC17A5c.1096A>G (p.Ile366Val)
c.1045A>G (p.Ile349Val)
c.898A>G (p.Ile300Val)
c.865A>G (p.Ile289Val)
c.1117A>G (p.Ile373Val)
c.1009A>G (p.Ile337Val)
c.937A>G (p.Ile313Val)
c.1093A>G (p.Ile365Val)
c.778A>G (p.Ile260Val)
 gnomAD v4
6g.73615330T>GCA364712175SLC17A5c.1096A>C (p.Ile366Leu)
c.1045A>C (p.Ile349Leu)
c.898A>C (p.Ile300Leu)
c.865A>C (p.Ile289Leu)
c.1117A>C (p.Ile373Leu)
c.1009A>C (p.Ile337Leu)
c.937A>C (p.Ile313Leu)
c.1093A>C (p.Ile365Leu)
c.778A>C (p.Ile260Leu)
6g.73615330delinsACTGTCTCTTATACACACA2580075764SLC17A5c.1096delinsTGTGTATAAGAGACAGT (p.Ile366CysfsTer3)
c.1045delinsTGTGTATAAGAGACAGT (p.Ile349CysfsTer3)
c.898delinsTGTGTATAAGAGACAGT (p.Ile300CysfsTer3)
c.865delinsTGTGTATAAGAGACAGT (p.Ile289CysfsTer3)
c.1117delinsTGTGTATAAGAGACAGT (p.Ile373CysfsTer3)
c.1009delinsTGTGTATAAGAGACAGT (p.Ile337CysfsTer3)
c.937delinsTGTGTATAAGAGACAGT (p.Ile313CysfsTer3)
c.1093delinsTGTGTATAAGAGACAGT (p.Ile365CysfsTer3)
c.778delinsTGTGTATAAGAGACAGT (p.Ile260CysfsTer3)
 ClinVar
6g.73615331T>ACA364712176SLC17A5c.1095A>T (p.Arg365Ser)
c.1044A>T (p.Arg348Ser)
c.897A>T (p.Arg299Ser)
c.864A>T (p.Arg288Ser)
c.1116A>T (p.Arg372Ser)
c.1008A>T (p.Arg336Ser)
c.936A>T (p.Arg312Ser)
c.1092A>T (p.Arg364Ser)
c.777A>T (p.Arg259Ser)
6g.73615331T>CCA450910024SLC17A5c.1095A>G (p.Arg365=)
c.1044A>G (p.Arg348=)
c.897A>G (p.Arg299=)
c.864A>G (p.Arg288=)
c.1116A>G (p.Arg372=)
c.1008A>G (p.Arg336=)
c.936A>G (p.Arg312=)
c.1092A>G (p.Arg364=)
c.777A>G (p.Arg259=)
 ClinVar
6g.73615331T>GCA364712177SLC17A5c.1095A>C (p.Arg365Ser)
c.1044A>C (p.Arg348Ser)
c.897A>C (p.Arg299Ser)
c.864A>C (p.Arg288Ser)
c.1116A>C (p.Arg372Ser)
c.1008A>C (p.Arg336Ser)
c.936A>C (p.Arg312Ser)
c.1092A>C (p.Arg364Ser)
c.777A>C (p.Arg259Ser)
6g.73615332C>ACA364712178SLC17A5c.1094G>T (p.Arg365Ile)
c.1043G>T (p.Arg348Ile)
c.896G>T (p.Arg299Ile)
c.863G>T (p.Arg288Ile)
c.1115G>T (p.Arg372Ile)
c.1007G>T (p.Arg336Ile)
c.935G>T (p.Arg312Ile)
c.1091G>T (p.Arg364Ile)
c.776G>T (p.Arg259Ile)
6g.73615332C>GCA364712179SLC17A5c.1094G>C (p.Arg365Thr)
c.1043G>C (p.Arg348Thr)
c.896G>C (p.Arg299Thr)
c.863G>C (p.Arg288Thr)
c.1115G>C (p.Arg372Thr)
c.1007G>C (p.Arg336Thr)
c.935G>C (p.Arg312Thr)
c.1091G>C (p.Arg364Thr)
c.776G>C (p.Arg259Thr)
6g.73615332C>TCA364712180SLC17A5c.1094G>A (p.Arg365Lys)
c.1043G>A (p.Arg348Lys)
c.896G>A (p.Arg299Lys)
c.863G>A (p.Arg288Lys)
c.1115G>A (p.Arg372Lys)
c.1007G>A (p.Arg336Lys)
c.935G>A (p.Arg312Lys)
c.1091G>A (p.Arg364Lys)
c.776G>A (p.Arg259Lys)
6g.73615333T>ACA364712181SLC17A5c.1093A>T (p.Arg365Ter)
c.1042A>T (p.Arg348Ter)
c.895A>T (p.Arg299Ter)
c.862A>T (p.Arg288Ter)
c.1114A>T (p.Arg372Ter)
c.1006A>T (p.Arg336Ter)
c.934A>T (p.Arg312Ter)
c.1090A>T (p.Arg364Ter)
c.775A>T (p.Arg259Ter)
6g.73615333T>CCA364712182SLC17A5c.1093A>G (p.Arg365Gly)
c.1042A>G (p.Arg348Gly)
c.895A>G (p.Arg299Gly)
c.862A>G (p.Arg288Gly)
c.1114A>G (p.Arg372Gly)
c.1006A>G (p.Arg336Gly)
c.934A>G (p.Arg312Gly)
c.1090A>G (p.Arg364Gly)
c.775A>G (p.Arg259Gly)
6g.73615333T>GCA450910025SLC17A5c.1093A>C (p.Arg365=)
c.1042A>C (p.Arg348=)
c.895A>C (p.Arg299=)
c.862A>C (p.Arg288=)
c.1114A>C (p.Arg372=)
c.1006A>C (p.Arg336=)
c.934A>C (p.Arg312=)
c.1090A>C (p.Arg364=)
c.775A>C (p.Arg259=)
6g.73615334G>ACA3890358SLC17A5c.1092C>T (p.Arg364=)
c.1041C>T (p.Arg347=)
c.894C>T (p.Arg298=)
c.861C>T (p.Arg287=)
c.1113C>T (p.Arg371=)
c.1005C>T (p.Arg335=)
c.933C>T (p.Arg311=)
c.1089C>T (p.Arg363=)
c.774C>T (p.Arg258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615334G>CCA450910026SLC17A5c.1092C>G (p.Arg364=)
c.1041C>G (p.Arg347=)
c.894C>G (p.Arg298=)
c.861C>G (p.Arg287=)
c.1113C>G (p.Arg371=)
c.1005C>G (p.Arg335=)
c.933C>G (p.Arg311=)
c.1089C>G (p.Arg363=)
c.774C>G (p.Arg258=)
6g.73615334G=CA1638231798SLC17A5c.1092C= (p.Arg364=)
c.1041C= (p.Arg347=)
c.894C= (p.Arg298=)
c.861C= (p.Arg287=)
c.1113C= (p.Arg371=)
c.1005C= (p.Arg335=)
c.933C= (p.Arg311=)
c.1089C= (p.Arg363=)
c.774C= (p.Arg258=)
6g.73615334G>TCA450910027SLC17A5c.1092C>A (p.Arg364=)
c.1041C>A (p.Arg347=)
c.894C>A (p.Arg298=)
c.861C>A (p.Arg287=)
c.1113C>A (p.Arg371=)
c.1005C>A (p.Arg335=)
c.933C>A (p.Arg311=)
c.1089C>A (p.Arg363=)
c.774C>A (p.Arg258=)
6g.73615335C>ACA364712184SLC17A5c.1091G>T (p.Arg364Leu)
c.1040G>T (p.Arg347Leu)
c.893G>T (p.Arg298Leu)
c.860G>T (p.Arg287Leu)
c.1112G>T (p.Arg371Leu)
c.1004G>T (p.Arg335Leu)
c.932G>T (p.Arg311Leu)
c.1088G>T (p.Arg363Leu)
c.773G>T (p.Arg258Leu)
6g.73615335C=CA1638231799SLC17A5c.1091G= (p.Arg364=)
c.1040G= (p.Arg347=)
c.893G= (p.Arg298=)
c.860G= (p.Arg287=)
c.1112G= (p.Arg371=)
c.1004G= (p.Arg335=)
c.932G= (p.Arg311=)
c.1088G= (p.Arg363=)
c.773G= (p.Arg258=)
6g.73615335C>GCA364712183SLC17A5c.1091G>C (p.Arg364Pro)
c.1040G>C (p.Arg347Pro)
c.893G>C (p.Arg298Pro)
c.860G>C (p.Arg287Pro)
c.1112G>C (p.Arg371Pro)
c.1004G>C (p.Arg335Pro)
c.932G>C (p.Arg311Pro)
c.1088G>C (p.Arg363Pro)
c.773G>C (p.Arg258Pro)
6g.73615335C>TCA3890359SLC17A5c.1091G>A (p.Arg364His)
c.1040G>A (p.Arg347His)
c.893G>A (p.Arg298His)
c.860G>A (p.Arg287His)
c.1112G>A (p.Arg371His)
c.1004G>A (p.Arg335His)
c.932G>A (p.Arg311His)
c.1088G>A (p.Arg363His)
c.773G>A (p.Arg258His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.73615336G>ACA3890360SLC17A5c.1090C>T (p.Arg364Cys)
c.1039C>T (p.Arg347Cys)
c.892C>T (p.Arg298Cys)
c.859C>T (p.Arg287Cys)
c.1111C>T (p.Arg371Cys)
c.1003C>T (p.Arg335Cys)
c.931C>T (p.Arg311Cys)
c.1087C>T (p.Arg363Cys)
c.772C>T (p.Arg258Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615336G>CCA364712186SLC17A5c.1090C>G (p.Arg364Gly)
c.1039C>G (p.Arg347Gly)
c.892C>G (p.Arg298Gly)
c.859C>G (p.Arg287Gly)
c.1111C>G (p.Arg371Gly)
c.1003C>G (p.Arg335Gly)
c.931C>G (p.Arg311Gly)
c.1087C>G (p.Arg363Gly)
c.772C>G (p.Arg258Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.73615336G=CA1638231800SLC17A5c.1090C= (p.Arg364=)
c.1039C= (p.Arg347=)
c.892C= (p.Arg298=)
c.859C= (p.Arg287=)
c.1111C= (p.Arg371=)
c.1003C= (p.Arg335=)
c.931C= (p.Arg311=)
c.1087C= (p.Arg363=)
c.772C= (p.Arg258=)
6g.73615336G>TCA364712185SLC17A5c.1090C>A (p.Arg364Ser)
c.1039C>A (p.Arg347Ser)
c.892C>A (p.Arg298Ser)
c.859C>A (p.Arg287Ser)
c.1111C>A (p.Arg371Ser)
c.1003C>A (p.Arg335Ser)
c.931C>A (p.Arg311Ser)
c.1087C>A (p.Arg363Ser)
c.772C>A (p.Arg258Ser)
 gnomAD v4
6g.73615337A>CCA450910028SLC17A5c.1089T>G (p.Val363=)
c.1038T>G (p.Val346=)
c.891T>G (p.Val297=)
c.858T>G (p.Val286=)
c.1110T>G (p.Val370=)
c.1002T>G (p.Val334=)
c.930T>G (p.Val310=)
c.1086T>G (p.Val362=)
c.771T>G (p.Val257=)
6g.73615337A>GCA450910030SLC17A5c.1089T>C (p.Val363=)
c.1038T>C (p.Val346=)
c.891T>C (p.Val297=)
c.858T>C (p.Val286=)
c.1110T>C (p.Val370=)
c.1002T>C (p.Val334=)
c.930T>C (p.Val310=)
c.1086T>C (p.Val362=)
c.771T>C (p.Val257=)
6g.73615337A>TCA450910029SLC17A5c.1089T>A (p.Val363=)
c.1038T>A (p.Val346=)
c.891T>A (p.Val297=)
c.858T>A (p.Val286=)
c.1110T>A (p.Val370=)
c.1002T>A (p.Val334=)
c.930T>A (p.Val310=)
c.1086T>A (p.Val362=)
c.771T>A (p.Val257=)
6g.73615338A>CCA364712187SLC17A5c.1088T>G (p.Val363Gly)
c.1037T>G (p.Val346Gly)
c.890T>G (p.Val297Gly)
c.857T>G (p.Val286Gly)
c.1109T>G (p.Val370Gly)
c.1001T>G (p.Val334Gly)
c.929T>G (p.Val310Gly)
c.1085T>G (p.Val362Gly)
c.770T>G (p.Val257Gly)
6g.73615338A>GCA364712188SLC17A5c.1088T>C (p.Val363Ala)
c.1037T>C (p.Val346Ala)
c.890T>C (p.Val297Ala)
c.857T>C (p.Val286Ala)
c.1109T>C (p.Val370Ala)
c.1001T>C (p.Val334Ala)
c.929T>C (p.Val310Ala)
c.1085T>C (p.Val362Ala)
c.770T>C (p.Val257Ala)
6g.73615338A>TCA364712189SLC17A5c.1088T>A (p.Val363Asp)
c.1037T>A (p.Val346Asp)
c.890T>A (p.Val297Asp)
c.857T>A (p.Val286Asp)
c.1109T>A (p.Val370Asp)
c.1001T>A (p.Val334Asp)
c.929T>A (p.Val310Asp)
c.1085T>A (p.Val362Asp)
c.770T>A (p.Val257Asp)
6g.73615339C>ACA364712190SLC17A5c.1087G>T (p.Val363Phe)
c.1036G>T (p.Val346Phe)
c.889G>T (p.Val297Phe)
c.856G>T (p.Val286Phe)
c.1108G>T (p.Val370Phe)
c.1000G>T (p.Val334Phe)
c.928G>T (p.Val310Phe)
c.1084G>T (p.Val362Phe)
c.769G>T (p.Val257Phe)
6g.73615339C>GCA364712191SLC17A5c.1087G>C (p.Val363Leu)
c.1036G>C (p.Val346Leu)
c.889G>C (p.Val297Leu)
c.856G>C (p.Val286Leu)
c.1108G>C (p.Val370Leu)
c.1000G>C (p.Val334Leu)
c.928G>C (p.Val310Leu)
c.1084G>C (p.Val362Leu)
c.769G>C (p.Val257Leu)
6g.73615339C>TCA364712192SLC17A5c.1087G>A (p.Val363Ile)
c.1036G>A (p.Val346Ile)
c.889G>A (p.Val297Ile)
c.856G>A (p.Val286Ile)
c.1108G>A (p.Val370Ile)
c.1000G>A (p.Val334Ile)
c.928G>A (p.Val310Ile)
c.1084G>A (p.Val362Ile)
c.769G>A (p.Val257Ile)
 ClinVar dbSNP
6g.73615340delCA2739273238SLC17A5c.1086del (p.Cys362TrpfsTer9)
c.1035del (p.Cys345TrpfsTer9)
c.888del (p.Cys296TrpfsTer9)
c.855del (p.Cys285TrpfsTer9)
c.1107del (p.Cys369TrpfsTer9)
c.999del (p.Cys333TrpfsTer9)
c.927del (p.Cys309TrpfsTer9)
c.1083del (p.Cys361TrpfsTer9)
c.768del (p.Cys256TrpfsTer9)
 ClinVar
6g.73615340A>CCA364712193SLC17A5c.1086T>G (p.Cys362Trp)
c.1035T>G (p.Cys345Trp)
c.888T>G (p.Cys296Trp)
c.855T>G (p.Cys285Trp)
c.1107T>G (p.Cys369Trp)
c.999T>G (p.Cys333Trp)
c.927T>G (p.Cys309Trp)
c.1083T>G (p.Cys361Trp)
c.768T>G (p.Cys256Trp)
 gnomAD v4
6g.73615340A>GCA450910031SLC17A5c.1086T>C (p.Cys362=)
c.1035T>C (p.Cys345=)
c.888T>C (p.Cys296=)
c.855T>C (p.Cys285=)
c.1107T>C (p.Cys369=)
c.999T>C (p.Cys333=)
c.927T>C (p.Cys309=)
c.1083T>C (p.Cys361=)
c.768T>C (p.Cys256=)
6g.73615340A>TCA364712194SLC17A5c.1086T>A (p.Cys362Ter)
c.1035T>A (p.Cys345Ter)
c.888T>A (p.Cys296Ter)
c.855T>A (p.Cys285Ter)
c.1107T>A (p.Cys369Ter)
c.999T>A (p.Cys333Ter)
c.927T>A (p.Cys309Ter)
c.1083T>A (p.Cys361Ter)
c.768T>A (p.Cys256Ter)
6g.73615341C>ACA364712195SLC17A5c.1085G>T (p.Cys362Phe)
c.1034G>T (p.Cys345Phe)
c.887G>T (p.Cys296Phe)
c.854G>T (p.Cys285Phe)
c.1106G>T (p.Cys369Phe)
c.998G>T (p.Cys333Phe)
c.926G>T (p.Cys309Phe)
c.1082G>T (p.Cys361Phe)
c.767G>T (p.Cys256Phe)
6g.73615341C>GCA364712196SLC17A5c.1085G>C (p.Cys362Ser)
c.1034G>C (p.Cys345Ser)
c.887G>C (p.Cys296Ser)
c.854G>C (p.Cys285Ser)
c.1106G>C (p.Cys369Ser)
c.998G>C (p.Cys333Ser)
c.926G>C (p.Cys309Ser)
c.1082G>C (p.Cys361Ser)
c.767G>C (p.Cys256Ser)
6g.73615341C>TCA364712197SLC17A5c.1085G>A (p.Cys362Tyr)
c.1034G>A (p.Cys345Tyr)
c.887G>A (p.Cys296Tyr)
c.854G>A (p.Cys285Tyr)
c.1106G>A (p.Cys369Tyr)
c.998G>A (p.Cys333Tyr)
c.926G>A (p.Cys309Tyr)
c.1082G>A (p.Cys361Tyr)
c.767G>A (p.Cys256Tyr)
6g.73615342A>CCA364712200SLC17A5c.1084T>G (p.Cys362Gly)
c.1033T>G (p.Cys345Gly)
c.886T>G (p.Cys296Gly)
c.853T>G (p.Cys285Gly)
c.1105T>G (p.Cys369Gly)
c.997T>G (p.Cys333Gly)
c.925T>G (p.Cys309Gly)
c.1081T>G (p.Cys361Gly)
c.766T>G (p.Cys256Gly)
6g.73615342A>GCA364712199SLC17A5c.1084T>C (p.Cys362Arg)
c.1033T>C (p.Cys345Arg)
c.886T>C (p.Cys296Arg)
c.853T>C (p.Cys285Arg)
c.1105T>C (p.Cys369Arg)
c.997T>C (p.Cys333Arg)
c.925T>C (p.Cys309Arg)
c.1081T>C (p.Cys361Arg)
c.766T>C (p.Cys256Arg)
6g.73615342A>TCA364712198SLC17A5c.1084T>A (p.Cys362Ser)
c.1033T>A (p.Cys345Ser)
c.886T>A (p.Cys296Ser)
c.853T>A (p.Cys285Ser)
c.1105T>A (p.Cys369Ser)
c.997T>A (p.Cys333Ser)
c.925T>A (p.Cys309Ser)
c.1081T>A (p.Cys361Ser)
c.766T>A (p.Cys256Ser)
 gnomAD v4
6g.73615343T>ACA364712201SLC17A5c.1083A>T (p.Leu361Phe)
c.1032A>T (p.Leu344Phe)
c.885A>T (p.Leu295Phe)
c.852A>T (p.Leu284Phe)
c.1104A>T (p.Leu368Phe)
c.996A>T (p.Leu332Phe)
c.924A>T (p.Leu308Phe)
c.1080A>T (p.Leu360Phe)
c.765A>T (p.Leu255Phe)
6g.73615343T>CCA450910032SLC17A5c.1083A>G (p.Leu361=)
c.1032A>G (p.Leu344=)
c.885A>G (p.Leu295=)
c.852A>G (p.Leu284=)
c.1104A>G (p.Leu368=)
c.996A>G (p.Leu332=)
c.924A>G (p.Leu308=)
c.1080A>G (p.Leu360=)
c.765A>G (p.Leu255=)
 gnomAD v4
6g.73615343T>GCA364712202SLC17A5c.1083A>C (p.Leu361Phe)
c.1032A>C (p.Leu344Phe)
c.885A>C (p.Leu295Phe)
c.852A>C (p.Leu284Phe)
c.1104A>C (p.Leu368Phe)
c.996A>C (p.Leu332Phe)
c.924A>C (p.Leu308Phe)
c.1080A>C (p.Leu360Phe)
c.765A>C (p.Leu255Phe)
6g.73615344A=CA1638231801SLC17A5c.1082T= (p.Leu361=)
c.1031T= (p.Leu344=)
c.884T= (p.Leu295=)
c.851T= (p.Leu284=)
c.1103T= (p.Leu368=)
c.995T= (p.Leu332=)
c.923T= (p.Leu308=)
c.1079T= (p.Leu360=)
c.764T= (p.Leu255=)
6g.73615344A>CCA364712203SLC17A5c.1082T>G (p.Leu361Ter)
c.1031T>G (p.Leu344Ter)
c.884T>G (p.Leu295Ter)
c.851T>G (p.Leu284Ter)
c.1103T>G (p.Leu368Ter)
c.995T>G (p.Leu332Ter)
c.923T>G (p.Leu308Ter)
c.1079T>G (p.Leu360Ter)
c.764T>G (p.Leu255Ter)
 dbSNP
6g.73615344A>GCA364712204SLC17A5c.1082T>C (p.Leu361Ser)
c.1031T>C (p.Leu344Ser)
c.884T>C (p.Leu295Ser)
c.851T>C (p.Leu284Ser)
c.1103T>C (p.Leu368Ser)
c.995T>C (p.Leu332Ser)
c.923T>C (p.Leu308Ser)
c.1079T>C (p.Leu360Ser)
c.764T>C (p.Leu255Ser)
 dbSNP gnomAD v4
6g.73615344A>TCA364712205SLC17A5c.1082T>A (p.Leu361Ter)
c.1031T>A (p.Leu344Ter)
c.884T>A (p.Leu295Ter)
c.851T>A (p.Leu284Ter)
c.1103T>A (p.Leu368Ter)
c.995T>A (p.Leu332Ter)
c.923T>A (p.Leu308Ter)
c.1079T>A (p.Leu360Ter)
c.764T>A (p.Leu255Ter)
6g.73615345A=CA1638231802SLC17A5c.1081T= (p.Leu361=)
c.1030T= (p.Leu344=)
c.883T= (p.Leu295=)
c.850T= (p.Leu284=)
c.1102T= (p.Leu368=)
c.994T= (p.Leu332=)
c.922T= (p.Leu308=)
c.1078T= (p.Leu360=)
c.763T= (p.Leu255=)
6g.73615345A>CCA364712206SLC17A5c.1081T>G (p.Leu361Val)
c.1030T>G (p.Leu344Val)
c.883T>G (p.Leu295Val)
c.850T>G (p.Leu284Val)
c.1102T>G (p.Leu368Val)
c.994T>G (p.Leu332Val)
c.922T>G (p.Leu308Val)
c.1078T>G (p.Leu360Val)
c.763T>G (p.Leu255Val)
6g.73615345A>GCA450910033SLC17A5c.1081T>C (p.Leu361=)
c.1030T>C (p.Leu344=)
c.883T>C (p.Leu295=)
c.850T>C (p.Leu284=)
c.1102T>C (p.Leu368=)
c.994T>C (p.Leu332=)
c.922T>C (p.Leu308=)
c.1078T>C (p.Leu360=)
c.763T>C (p.Leu255=)
 dbSNP
6g.73615345A>TCA364712207SLC17A5c.1081T>A (p.Leu361Ile)
c.1030T>A (p.Leu344Ile)
c.883T>A (p.Leu295Ile)
c.850T>A (p.Leu284Ile)
c.1102T>A (p.Leu368Ile)
c.994T>A (p.Leu332Ile)
c.922T>A (p.Leu308Ile)
c.1078T>A (p.Leu360Ile)
c.763T>A (p.Leu255Ile)
6g.73615346A>CCA450910036SLC17A5c.1080T>G (p.Thr360=)
c.1029T>G (p.Thr343=)
c.882T>G (p.Thr294=)
c.849T>G (p.Thr283=)
c.1101T>G (p.Thr367=)
c.993T>G (p.Thr331=)
c.921T>G (p.Thr307=)
c.1077T>G (p.Thr359=)
c.762T>G (p.Thr254=)
6g.73615346A>GCA450910035SLC17A5c.1080T>C (p.Thr360=)
c.1029T>C (p.Thr343=)
c.882T>C (p.Thr294=)
c.849T>C (p.Thr283=)
c.1101T>C (p.Thr367=)
c.993T>C (p.Thr331=)
c.921T>C (p.Thr307=)
c.1077T>C (p.Thr359=)
c.762T>C (p.Thr254=)
6g.73615346A>TCA450910034SLC17A5c.1080T>A (p.Thr360=)
c.1029T>A (p.Thr343=)
c.882T>A (p.Thr294=)
c.849T>A (p.Thr283=)
c.1101T>A (p.Thr367=)
c.993T>A (p.Thr331=)
c.921T>A (p.Thr307=)
c.1077T>A (p.Thr359=)
c.762T>A (p.Thr254=)
6g.73615347G>ACA364712208SLC17A5c.1079C>T (p.Thr360Ile)
c.1028C>T (p.Thr343Ile)
c.881C>T (p.Thr294Ile)
c.848C>T (p.Thr283Ile)
c.1100C>T (p.Thr367Ile)
c.992C>T (p.Thr331Ile)
c.920C>T (p.Thr307Ile)
c.1076C>T (p.Thr359Ile)
c.761C>T (p.Thr254Ile)
 dbSNP
6g.73615347G>CCA364712209SLC17A5c.1079C>G (p.Thr360Ser)
c.1028C>G (p.Thr343Ser)
c.881C>G (p.Thr294Ser)
c.848C>G (p.Thr283Ser)
c.1100C>G (p.Thr367Ser)
c.992C>G (p.Thr331Ser)
c.920C>G (p.Thr307Ser)
c.1076C>G (p.Thr359Ser)
c.761C>G (p.Thr254Ser)
6g.73615347G=CA1638231803SLC17A5c.1079C= (p.Thr360=)
c.1028C= (p.Thr343=)
c.881C= (p.Thr294=)
c.848C= (p.Thr283=)
c.1100C= (p.Thr367=)
c.992C= (p.Thr331=)
c.920C= (p.Thr307=)
c.1076C= (p.Thr359=)
c.761C= (p.Thr254=)
6g.73615347G>TCA364712210SLC17A5c.1079C>A (p.Thr360Asn)
c.1028C>A (p.Thr343Asn)
c.881C>A (p.Thr294Asn)
c.848C>A (p.Thr283Asn)
c.1100C>A (p.Thr367Asn)
c.992C>A (p.Thr331Asn)
c.920C>A (p.Thr307Asn)
c.1076C>A (p.Thr359Asn)
c.761C>A (p.Thr254Asn)
6g.73615348T>ACA364712211SLC17A5c.1078A>T (p.Thr360Ser)
c.1027A>T (p.Thr343Ser)
c.880A>T (p.Thr294Ser)
c.847A>T (p.Thr283Ser)
c.1099A>T (p.Thr367Ser)
c.991A>T (p.Thr331Ser)
c.919A>T (p.Thr307Ser)
c.1075A>T (p.Thr359Ser)
c.760A>T (p.Thr254Ser)
6g.73615348T>CCA364712212SLC17A5c.1078A>G (p.Thr360Ala)
c.1027A>G (p.Thr343Ala)
c.880A>G (p.Thr294Ala)
c.847A>G (p.Thr283Ala)
c.1099A>G (p.Thr367Ala)
c.991A>G (p.Thr331Ala)
c.919A>G (p.Thr307Ala)
c.1075A>G (p.Thr359Ala)
c.760A>G (p.Thr254Ala)
6g.73615348T>GCA364712213SLC17A5c.1078A>C (p.Thr360Pro)
c.1027A>C (p.Thr343Pro)
c.880A>C (p.Thr294Pro)
c.847A>C (p.Thr283Pro)
c.1099A>C (p.Thr367Pro)
c.991A>C (p.Thr331Pro)
c.919A>C (p.Thr307Pro)
c.1075A>C (p.Thr359Pro)
c.760A>C (p.Thr254Pro)
6g.73615349T>ACA450910037SLC17A5c.1077A>T (p.Ser359=)
c.1026A>T (p.Ser342=)
c.879A>T (p.Ser293=)
c.846A>T (p.Ser282=)
c.1098A>T (p.Ser366=)
c.990A>T (p.Ser330=)
c.918A>T (p.Ser306=)
c.1074A>T (p.Ser358=)
c.759A>T (p.Ser253=)
6g.73615349T>CCA450910038SLC17A5c.1077A>G (p.Ser359=)
c.1026A>G (p.Ser342=)
c.879A>G (p.Ser293=)
c.846A>G (p.Ser282=)
c.1098A>G (p.Ser366=)
c.990A>G (p.Ser330=)
c.918A>G (p.Ser306=)
c.1074A>G (p.Ser358=)
c.759A>G (p.Ser253=)
6g.73615349T>GCA450910039SLC17A5c.1077A>C (p.Ser359=)
c.1026A>C (p.Ser342=)
c.879A>C (p.Ser293=)
c.846A>C (p.Ser282=)
c.1098A>C (p.Ser366=)
c.990A>C (p.Ser330=)
c.918A>C (p.Ser306=)
c.1074A>C (p.Ser358=)
c.759A>C (p.Ser253=)
6g.73615350G>ACA364712216SLC17A5c.1076C>T (p.Ser359Leu)
c.1025C>T (p.Ser342Leu)
c.878C>T (p.Ser293Leu)
c.845C>T (p.Ser282Leu)
c.1097C>T (p.Ser366Leu)
c.989C>T (p.Ser330Leu)
c.917C>T (p.Ser306Leu)
c.1073C>T (p.Ser358Leu)
c.758C>T (p.Ser253Leu)
6g.73615350G>CCA364712215SLC17A5c.1076C>G (p.Ser359Ter)
c.1025C>G (p.Ser342Ter)
c.878C>G (p.Ser293Ter)
c.845C>G (p.Ser282Ter)
c.1097C>G (p.Ser366Ter)
c.989C>G (p.Ser330Ter)
c.917C>G (p.Ser306Ter)
c.1073C>G (p.Ser358Ter)
c.758C>G (p.Ser253Ter)
6g.73615350G>TCA364712214SLC17A5c.1076C>A (p.Ser359Ter)
c.1025C>A (p.Ser342Ter)
c.878C>A (p.Ser293Ter)
c.845C>A (p.Ser282Ter)
c.1097C>A (p.Ser366Ter)
c.989C>A (p.Ser330Ter)
c.917C>A (p.Ser306Ter)
c.1073C>A (p.Ser358Ter)
c.758C>A (p.Ser253Ter)
6g.73615351A>CCA364712219SLC17A5c.1075T>G (p.Ser359Ala)
c.1024T>G (p.Ser342Ala)
c.877T>G (p.Ser293Ala)
c.844T>G (p.Ser282Ala)
c.1096T>G (p.Ser366Ala)
c.988T>G (p.Ser330Ala)
c.916T>G (p.Ser306Ala)
c.1072T>G (p.Ser358Ala)
c.757T>G (p.Ser253Ala)
6g.73615351A>GCA364712217SLC17A5c.1075T>C (p.Ser359Pro)
c.1024T>C (p.Ser342Pro)
c.877T>C (p.Ser293Pro)
c.844T>C (p.Ser282Pro)
c.1096T>C (p.Ser366Pro)
c.988T>C (p.Ser330Pro)
c.916T>C (p.Ser306Pro)
c.1072T>C (p.Ser358Pro)
c.757T>C (p.Ser253Pro)
6g.73615351A>TCA364712218SLC17A5c.1075T>A (p.Ser359Thr)
c.1024T>A (p.Ser342Thr)
c.877T>A (p.Ser293Thr)
c.844T>A (p.Ser282Thr)
c.1096T>A (p.Ser366Thr)
c.988T>A (p.Ser330Thr)
c.916T>A (p.Ser306Thr)
c.1072T>A (p.Ser358Thr)
c.757T>A (p.Ser253Thr)
6g.73615352A=CA1638231804SLC17A5c.1074T= (p.Phe358=)
c.1023T= (p.Phe341=)
c.876T= (p.Phe292=)
c.843T= (p.Phe281=)
c.1095T= (p.Phe365=)
c.987T= (p.Phe329=)
c.915T= (p.Phe305=)
c.1071T= (p.Phe357=)
c.756T= (p.Phe252=)
6g.73615352A>CCA364712220SLC17A5c.1074T>G (p.Phe358Leu)
c.1023T>G (p.Phe341Leu)
c.876T>G (p.Phe292Leu)
c.843T>G (p.Phe281Leu)
c.1095T>G (p.Phe365Leu)
c.987T>G (p.Phe329Leu)
c.915T>G (p.Phe305Leu)
c.1071T>G (p.Phe357Leu)
c.756T>G (p.Phe252Leu)
 dbSNP
6g.73615352A>GCA450910040SLC17A5c.1074T>C (p.Phe358=)
c.1023T>C (p.Phe341=)
c.876T>C (p.Phe292=)
c.843T>C (p.Phe281=)
c.1095T>C (p.Phe365=)
c.987T>C (p.Phe329=)
c.915T>C (p.Phe305=)
c.1071T>C (p.Phe357=)
c.756T>C (p.Phe252=)
6g.73615352A>TCA364712221SLC17A5c.1074T>A (p.Phe358Leu)
c.1023T>A (p.Phe341Leu)
c.876T>A (p.Phe292Leu)
c.843T>A (p.Phe281Leu)
c.1095T>A (p.Phe365Leu)
c.987T>A (p.Phe329Leu)
c.915T>A (p.Phe305Leu)
c.1071T>A (p.Phe357Leu)
c.756T>A (p.Phe252Leu)
6g.73615353A>CCA364712222SLC17A5c.1073T>G (p.Phe358Cys)
c.1022T>G (p.Phe341Cys)
c.875T>G (p.Phe292Cys)
c.842T>G (p.Phe281Cys)
c.1094T>G (p.Phe365Cys)
c.986T>G (p.Phe329Cys)
c.914T>G (p.Phe305Cys)
c.1070T>G (p.Phe357Cys)
c.755T>G (p.Phe252Cys)
6g.73615353A>GCA364712223SLC17A5c.1073T>C (p.Phe358Ser)
c.1022T>C (p.Phe341Ser)
c.875T>C (p.Phe292Ser)
c.842T>C (p.Phe281Ser)
c.1094T>C (p.Phe365Ser)
c.986T>C (p.Phe329Ser)
c.914T>C (p.Phe305Ser)
c.1070T>C (p.Phe357Ser)
c.755T>C (p.Phe252Ser)
6g.73615353A>TCA364712224SLC17A5c.1073T>A (p.Phe358Tyr)
c.1022T>A (p.Phe341Tyr)
c.875T>A (p.Phe292Tyr)
c.842T>A (p.Phe281Tyr)
c.1094T>A (p.Phe365Tyr)
c.986T>A (p.Phe329Tyr)
c.914T>A (p.Phe305Tyr)
c.1070T>A (p.Phe357Tyr)
c.755T>A (p.Phe252Tyr)
6g.73615354A>CCA364712225SLC17A5c.1072T>G (p.Phe358Val)
c.1021T>G (p.Phe341Val)
c.874T>G (p.Phe292Val)
c.841T>G (p.Phe281Val)
c.1093T>G (p.Phe365Val)
c.985T>G (p.Phe329Val)
c.913T>G (p.Phe305Val)
c.1069T>G (p.Phe357Val)
c.754T>G (p.Phe252Val)
6g.73615354A>GCA364712226SLC17A5c.1072T>C (p.Phe358Leu)
c.1021T>C (p.Phe341Leu)
c.874T>C (p.Phe292Leu)
c.841T>C (p.Phe281Leu)
c.1093T>C (p.Phe365Leu)
c.985T>C (p.Phe329Leu)
c.913T>C (p.Phe305Leu)
c.1069T>C (p.Phe357Leu)
c.754T>C (p.Phe252Leu)
6g.73615354A>TCA364712227SLC17A5c.1072T>A (p.Phe358Ile)
c.1021T>A (p.Phe341Ile)
c.874T>A (p.Phe292Ile)
c.841T>A (p.Phe281Ile)
c.1093T>A (p.Phe365Ile)
c.985T>A (p.Phe329Ile)
c.913T>A (p.Phe305Ile)
c.1069T>A (p.Phe357Ile)
c.754T>A (p.Phe252Ile)
6g.73615355A>CCA364712228SLC17A5c.1071T>G (p.Asn357Lys)
c.1020T>G (p.Asn340Lys)
c.873T>G (p.Asn291Lys)
c.840T>G (p.Asn280Lys)
c.1092T>G (p.Asn364Lys)
c.984T>G (p.Asn328Lys)
c.912T>G (p.Asn304Lys)
c.1068T>G (p.Asn356Lys)
c.753T>G (p.Asn251Lys)
6g.73615355A>GCA450910041SLC17A5c.1071T>C (p.Asn357=)
c.1020T>C (p.Asn340=)
c.873T>C (p.Asn291=)
c.840T>C (p.Asn280=)
c.1092T>C (p.Asn364=)
c.984T>C (p.Asn328=)
c.912T>C (p.Asn304=)
c.1068T>C (p.Asn356=)
c.753T>C (p.Asn251=)
6g.73615355A>TCA364712229SLC17A5c.1071T>A (p.Asn357Lys)
c.1020T>A (p.Asn340Lys)
c.873T>A (p.Asn291Lys)
c.840T>A (p.Asn280Lys)
c.1092T>A (p.Asn364Lys)
c.984T>A (p.Asn328Lys)
c.912T>A (p.Asn304Lys)
c.1068T>A (p.Asn356Lys)
c.753T>A (p.Asn251Lys)
 COSMIC
6g.73615356T>ACA364712231SLC17A5c.1070A>T (p.Asn357Ile)
c.1019A>T (p.Asn340Ile)
c.872A>T (p.Asn291Ile)
c.839A>T (p.Asn280Ile)
c.1091A>T (p.Asn364Ile)
c.983A>T (p.Asn328Ile)
c.911A>T (p.Asn304Ile)
c.1067A>T (p.Asn356Ile)
c.752A>T (p.Asn251Ile)
6g.73615356T>CCA364712232SLC17A5c.1070A>G (p.Asn357Ser)
c.1019A>G (p.Asn340Ser)
c.872A>G (p.Asn291Ser)
c.839A>G (p.Asn280Ser)
c.1091A>G (p.Asn364Ser)
c.983A>G (p.Asn328Ser)
c.911A>G (p.Asn304Ser)
c.1067A>G (p.Asn356Ser)
c.752A>G (p.Asn251Ser)
6g.73615356T>GCA364712230SLC17A5c.1070A>C (p.Asn357Thr)
c.1019A>C (p.Asn340Thr)
c.872A>C (p.Asn291Thr)
c.839A>C (p.Asn280Thr)
c.1091A>C (p.Asn364Thr)
c.983A>C (p.Asn328Thr)
c.911A>C (p.Asn304Thr)
c.1067A>C (p.Asn356Thr)
c.752A>C (p.Asn251Thr)
6g.73615357T>ACA364712233SLC17A5c.1069A>T (p.Asn357Tyr)
c.1018A>T (p.Asn340Tyr)
c.871A>T (p.Asn291Tyr)
c.838A>T (p.Asn280Tyr)
c.1090A>T (p.Asn364Tyr)
c.982A>T (p.Asn328Tyr)
c.910A>T (p.Asn304Tyr)
c.1066A>T (p.Asn356Tyr)
c.751A>T (p.Asn251Tyr)
6g.73615357T>CCA364712234SLC17A5c.1069A>G (p.Asn357Asp)
c.1018A>G (p.Asn340Asp)
c.871A>G (p.Asn291Asp)
c.838A>G (p.Asn280Asp)
c.1090A>G (p.Asn364Asp)
c.982A>G (p.Asn328Asp)
c.910A>G (p.Asn304Asp)
c.1066A>G (p.Asn356Asp)
c.751A>G (p.Asn251Asp)
6g.73615357T>GCA364712235SLC17A5c.1069A>C (p.Asn357His)
c.1018A>C (p.Asn340His)
c.871A>C (p.Asn291His)
c.838A>C (p.Asn280His)
c.1090A>C (p.Asn364His)
c.982A>C (p.Asn328His)
c.910A>C (p.Asn304His)
c.1066A>C (p.Asn356His)
c.751A>C (p.Asn251His)
6g.73615358C>ACA364712236SLC17A5c.1068G>T (p.Trp356Cys)
c.1017G>T (p.Trp339Cys)
c.870G>T (p.Trp290Cys)
c.837G>T (p.Trp279Cys)
c.1089G>T (p.Trp363Cys)
c.981G>T (p.Trp327Cys)
c.909G>T (p.Trp303Cys)
c.1065G>T (p.Trp355Cys)
c.750G>T (p.Trp250Cys)
 gnomAD v4 COSMIC
6g.73615358C>GCA364712237SLC17A5c.1068G>C (p.Trp356Cys)
c.1017G>C (p.Trp339Cys)
c.870G>C (p.Trp290Cys)
c.837G>C (p.Trp279Cys)
c.1089G>C (p.Trp363Cys)
c.981G>C (p.Trp327Cys)
c.909G>C (p.Trp303Cys)
c.1065G>C (p.Trp355Cys)
c.750G>C (p.Trp250Cys)
6g.73615358C>TCA364712238SLC17A5c.1068G>A (p.Trp356Ter)
c.1017G>A (p.Trp339Ter)
c.870G>A (p.Trp290Ter)
c.837G>A (p.Trp279Ter)
c.1089G>A (p.Trp363Ter)
c.981G>A (p.Trp327Ter)
c.909G>A (p.Trp303Ter)
c.1065G>A (p.Trp355Ter)
c.750G>A (p.Trp250Ter)
6g.73615359C>ACA364712239SLC17A5c.1067G>T (p.Trp356Leu)
c.1016G>T (p.Trp339Leu)
c.869G>T (p.Trp290Leu)
c.836G>T (p.Trp279Leu)
c.1088G>T (p.Trp363Leu)
c.980G>T (p.Trp327Leu)
c.908G>T (p.Trp303Leu)
c.1064G>T (p.Trp355Leu)
c.749G>T (p.Trp250Leu)
6g.73615359C>GCA364712241SLC17A5c.1067G>C (p.Trp356Ser)
c.1016G>C (p.Trp339Ser)
c.869G>C (p.Trp290Ser)
c.836G>C (p.Trp279Ser)
c.1088G>C (p.Trp363Ser)
c.980G>C (p.Trp327Ser)
c.908G>C (p.Trp303Ser)
c.1064G>C (p.Trp355Ser)
c.749G>C (p.Trp250Ser)
6g.73615359C>TCA364712240SLC17A5c.1067G>A (p.Trp356Ter)
c.1016G>A (p.Trp339Ter)
c.869G>A (p.Trp290Ter)
c.836G>A (p.Trp279Ter)
c.1088G>A (p.Trp363Ter)
c.980G>A (p.Trp327Ter)
c.908G>A (p.Trp303Ter)
c.1064G>A (p.Trp355Ter)
c.749G>A (p.Trp250Ter)
6g.73615360A>CCA364712242SLC17A5c.1066T>G (p.Trp356Gly)
c.1015T>G (p.Trp339Gly)
c.868T>G (p.Trp290Gly)
c.835T>G (p.Trp279Gly)
c.1087T>G (p.Trp363Gly)
c.979T>G (p.Trp327Gly)
c.907T>G (p.Trp303Gly)
c.1063T>G (p.Trp355Gly)
c.748T>G (p.Trp250Gly)
6g.73615360A>GCA364712243SLC17A5c.1066T>C (p.Trp356Arg)
c.1015T>C (p.Trp339Arg)
c.868T>C (p.Trp290Arg)
c.835T>C (p.Trp279Arg)
c.1087T>C (p.Trp363Arg)
c.979T>C (p.Trp327Arg)
c.907T>C (p.Trp303Arg)
c.1063T>C (p.Trp355Arg)
c.748T>C (p.Trp250Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.73615360A>TCA364712244SLC17A5c.1066T>A (p.Trp356Arg)
c.1015T>A (p.Trp339Arg)
c.868T>A (p.Trp290Arg)
c.835T>A (p.Trp279Arg)
c.1087T>A (p.Trp363Arg)
c.979T>A (p.Trp327Arg)
c.907T>A (p.Trp303Arg)
c.1063T>A (p.Trp355Arg)
c.748T>A (p.Trp250Arg)
6g.73615361T>ACA364712245SLC17A5c.1065A>T (p.Lys355Asn)
c.1014A>T (p.Lys338Asn)
c.867A>T (p.Lys289Asn)
c.834A>T (p.Lys278Asn)
c.1086A>T (p.Lys362Asn)
c.978A>T (p.Lys326Asn)
c.906A>T (p.Lys302Asn)
c.1062A>T (p.Lys354Asn)
c.747A>T (p.Lys249Asn)
6g.73615361T>CCA450910042SLC17A5c.1065A>G (p.Lys355=)
c.1014A>G (p.Lys338=)
c.867A>G (p.Lys289=)
c.834A>G (p.Lys278=)
c.1086A>G (p.Lys362=)
c.978A>G (p.Lys326=)
c.906A>G (p.Lys302=)
c.1062A>G (p.Lys354=)
c.747A>G (p.Lys249=)
6g.73615361T>GCA364712246SLC17A5c.1065A>C (p.Lys355Asn)
c.1014A>C (p.Lys338Asn)
c.867A>C (p.Lys289Asn)
c.834A>C (p.Lys278Asn)
c.1086A>C (p.Lys362Asn)
c.978A>C (p.Lys326Asn)
c.906A>C (p.Lys302Asn)
c.1062A>C (p.Lys354Asn)
c.747A>C (p.Lys249Asn)
6g.73615362T>ACA364712248SLC17A5c.1064A>T (p.Lys355Ile)
c.1013A>T (p.Lys338Ile)
c.866A>T (p.Lys289Ile)
c.833A>T (p.Lys278Ile)
c.1085A>T (p.Lys362Ile)
c.977A>T (p.Lys326Ile)
c.905A>T (p.Lys302Ile)
c.1061A>T (p.Lys354Ile)
c.746A>T (p.Lys249Ile)
6g.73615362T>CCA364712249SLC17A5c.1064A>G (p.Lys355Arg)
c.1013A>G (p.Lys338Arg)
c.866A>G (p.Lys289Arg)
c.833A>G (p.Lys278Arg)
c.1085A>G (p.Lys362Arg)
c.977A>G (p.Lys326Arg)
c.905A>G (p.Lys302Arg)
c.1061A>G (p.Lys354Arg)
c.746A>G (p.Lys249Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.73615362T>GCA364712247SLC17A5c.1064A>C (p.Lys355Thr)
c.1013A>C (p.Lys338Thr)
c.866A>C (p.Lys289Thr)
c.833A>C (p.Lys278Thr)
c.1085A>C (p.Lys362Thr)
c.977A>C (p.Lys326Thr)
c.905A>C (p.Lys302Thr)
c.1061A>C (p.Lys354Thr)
c.746A>C (p.Lys249Thr)
6g.73615362T=CA1638231805SLC17A5c.1064A= (p.Lys355=)
c.1013A= (p.Lys338=)
c.866A= (p.Lys289=)
c.833A= (p.Lys278=)
c.1085A= (p.Lys362=)
c.977A= (p.Lys326=)
c.905A= (p.Lys302=)
c.1061A= (p.Lys354=)
c.746A= (p.Lys249=)
6g.73615363T>ACA364712250SLC17A5c.1063A>T (p.Lys355Ter)
c.1012A>T (p.Lys338Ter)
c.865A>T (p.Lys289Ter)
c.832A>T (p.Lys278Ter)
c.1084A>T (p.Lys362Ter)
c.976A>T (p.Lys326Ter)
c.904A>T (p.Lys302Ter)
c.1060A>T (p.Lys354Ter)
c.745A>T (p.Lys249Ter)
6g.73615363T>CCA364712252SLC17A5c.1063A>G (p.Lys355Glu)
c.1012A>G (p.Lys338Glu)
c.865A>G (p.Lys289Glu)
c.832A>G (p.Lys278Glu)
c.1084A>G (p.Lys362Glu)
c.976A>G (p.Lys326Glu)
c.904A>G (p.Lys302Glu)
c.1060A>G (p.Lys354Glu)
c.745A>G (p.Lys249Glu)
6g.73615363T>GCA364712251SLC17A5c.1063A>C (p.Lys355Gln)
c.1012A>C (p.Lys338Gln)
c.865A>C (p.Lys289Gln)
c.832A>C (p.Lys278Gln)
c.1084A>C (p.Lys362Gln)
c.976A>C (p.Lys326Gln)
c.904A>C (p.Lys302Gln)
c.1060A>C (p.Lys354Gln)
c.745A>C (p.Lys249Gln)
6g.73615364T>ACA450910043SLC17A5c.1062A>T (p.Ala354=)
c.1011A>T (p.Ala337=)
c.864A>T (p.Ala288=)
c.831A>T (p.Ala277=)
c.1083A>T (p.Ala361=)
c.975A>T (p.Ala325=)
c.903A>T (p.Ala301=)
c.1059A>T (p.Ala353=)
c.744A>T (p.Ala248=)
6g.73615364T>CCA450910044SLC17A5c.1062A>G (p.Ala354=)
c.1011A>G (p.Ala337=)
c.864A>G (p.Ala288=)
c.831A>G (p.Ala277=)
c.1083A>G (p.Ala361=)
c.975A>G (p.Ala325=)
c.903A>G (p.Ala301=)
c.1059A>G (p.Ala353=)
c.744A>G (p.Ala248=)
6g.73615364T>GCA450910045SLC17A5c.1062A>C (p.Ala354=)
c.1011A>C (p.Ala337=)
c.864A>C (p.Ala288=)
c.831A>C (p.Ala277=)
c.1083A>C (p.Ala361=)
c.975A>C (p.Ala325=)
c.903A>C (p.Ala301=)
c.1059A>C (p.Ala353=)
c.744A>C (p.Ala248=)
6g.73615365G>ACA364712253SLC17A5c.1061C>T (p.Ala354Val)
c.1010C>T (p.Ala337Val)
c.863C>T (p.Ala288Val)
c.830C>T (p.Ala277Val)
c.1082C>T (p.Ala361Val)
c.974C>T (p.Ala325Val)
c.902C>T (p.Ala301Val)
c.1058C>T (p.Ala353Val)
c.743C>T (p.Ala248Val)
6g.73615365G>CCA364712254SLC17A5c.1061C>G (p.Ala354Gly)
c.1010C>G (p.Ala337Gly)
c.863C>G (p.Ala288Gly)
c.830C>G (p.Ala277Gly)
c.1082C>G (p.Ala361Gly)
c.974C>G (p.Ala325Gly)
c.902C>G (p.Ala301Gly)
c.1058C>G (p.Ala353Gly)
c.743C>G (p.Ala248Gly)
6g.73615365G>TCA364712255SLC17A5c.1061C>A (p.Ala354Glu)
c.1010C>A (p.Ala337Glu)
c.863C>A (p.Ala288Glu)
c.830C>A (p.Ala277Glu)
c.1082C>A (p.Ala361Glu)
c.974C>A (p.Ala325Glu)
c.902C>A (p.Ala301Glu)
c.1058C>A (p.Ala353Glu)
c.743C>A (p.Ala248Glu)
6g.73615366C>ACA364712256SLC17A5c.1060G>T (p.Ala354Ser)
c.1009G>T (p.Ala337Ser)
c.862G>T (p.Ala288Ser)
c.829G>T (p.Ala277Ser)
c.1081G>T (p.Ala361Ser)
c.973G>T (p.Ala325Ser)
c.901G>T (p.Ala301Ser)
c.1057G>T (p.Ala353Ser)
c.742G>T (p.Ala248Ser)
6g.73615366C>GCA364712257SLC17A5c.1060G>C (p.Ala354Pro)
c.1009G>C (p.Ala337Pro)
c.862G>C (p.Ala288Pro)
c.829G>C (p.Ala277Pro)
c.1081G>C (p.Ala361Pro)
c.973G>C (p.Ala325Pro)
c.901G>C (p.Ala301Pro)
c.1057G>C (p.Ala353Pro)
c.742G>C (p.Ala248Pro)
6g.73615366C>TCA364712258SLC17A5c.1060G>A (p.Ala354Thr)
c.1009G>A (p.Ala337Thr)
c.862G>A (p.Ala288Thr)
c.829G>A (p.Ala277Thr)
c.1081G>A (p.Ala361Thr)
c.973G>A (p.Ala325Thr)
c.901G>A (p.Ala301Thr)
c.1057G>A (p.Ala353Thr)
c.742G>A (p.Ala248Thr)
6g.73615367C>ACA364712259SLC17A5c.1059G>T (p.Arg353Ser)
c.1008G>T (p.Arg336Ser)
c.861G>T (p.Arg287Ser)
c.828G>T (p.Arg276Ser)
c.1080G>T (p.Arg360Ser)
c.972G>T (p.Arg324Ser)
c.900G>T (p.Arg300Ser)
c.1056G>T (p.Arg352Ser)
c.741G>T (p.Arg247Ser)
6g.73615367C=CA1638231806SLC17A5c.1059G= (p.Arg353=)
c.1008G= (p.Arg336=)
c.861G= (p.Arg287=)
c.828G= (p.Arg276=)
c.1080G= (p.Arg360=)
c.972G= (p.Arg324=)
c.900G= (p.Arg300=)
c.1056G= (p.Arg352=)
c.741G= (p.Arg247=)
6g.73615367C>GCA364712260SLC17A5c.1059G>C (p.Arg353Ser)
c.1008G>C (p.Arg336Ser)
c.861G>C (p.Arg287Ser)
c.828G>C (p.Arg276Ser)
c.1080G>C (p.Arg360Ser)
c.972G>C (p.Arg324Ser)
c.900G>C (p.Arg300Ser)
c.1056G>C (p.Arg352Ser)
c.741G>C (p.Arg247Ser)
6g.73615367C>TCA3890361SLC17A5c.1059G>A (p.Arg353=)
c.1008G>A (p.Arg336=)
c.861G>A (p.Arg287=)
c.828G>A (p.Arg276=)
c.1080G>A (p.Arg360=)
c.972G>A (p.Arg324=)
c.900G>A (p.Arg300=)
c.1056G>A (p.Arg352=)
c.741G>A (p.Arg247=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615368C>ACA364712261SLC17A5c.1058G>T (p.Arg353Met)
c.1007G>T (p.Arg336Met)
c.860G>T (p.Arg287Met)
c.827G>T (p.Arg276Met)
c.1079G>T (p.Arg360Met)
c.971G>T (p.Arg324Met)
c.899G>T (p.Arg300Met)
c.1055G>T (p.Arg352Met)
c.740G>T (p.Arg247Met)
 COSMIC
6g.73615368C>GCA364712262SLC17A5c.1058G>C (p.Arg353Thr)
c.1007G>C (p.Arg336Thr)
c.860G>C (p.Arg287Thr)
c.827G>C (p.Arg276Thr)
c.1079G>C (p.Arg360Thr)
c.971G>C (p.Arg324Thr)
c.899G>C (p.Arg300Thr)
c.1055G>C (p.Arg352Thr)
c.740G>C (p.Arg247Thr)
6g.73615368C>TCA364712263SLC17A5c.1058G>A (p.Arg353Lys)
c.1007G>A (p.Arg336Lys)
c.860G>A (p.Arg287Lys)
c.827G>A (p.Arg276Lys)
c.1079G>A (p.Arg360Lys)
c.971G>A (p.Arg324Lys)
c.899G>A (p.Arg300Lys)
c.1055G>A (p.Arg352Lys)
c.740G>A (p.Arg247Lys)
6g.73615369T>ACA364712265SLC17A5c.1057A>T (p.Arg353Trp)
c.1006A>T (p.Arg336Trp)
c.859A>T (p.Arg287Trp)
c.826A>T (p.Arg276Trp)
c.1078A>T (p.Arg360Trp)
c.970A>T (p.Arg324Trp)
c.898A>T (p.Arg300Trp)
c.1054A>T (p.Arg352Trp)
c.739A>T (p.Arg247Trp)
6g.73615369T>CCA364712264SLC17A5c.1057A>G (p.Arg353Gly)
c.1006A>G (p.Arg336Gly)
c.859A>G (p.Arg287Gly)
c.826A>G (p.Arg276Gly)
c.1078A>G (p.Arg360Gly)
c.970A>G (p.Arg324Gly)
c.898A>G (p.Arg300Gly)
c.1054A>G (p.Arg352Gly)
c.739A>G (p.Arg247Gly)
6g.73615369T>GCA450910046SLC17A5c.1057A>C (p.Arg353=)
c.1006A>C (p.Arg336=)
c.859A>C (p.Arg287=)
c.826A>C (p.Arg276=)
c.1078A>C (p.Arg360=)
c.970A>C (p.Arg324=)
c.898A>C (p.Arg300=)
c.1054A>C (p.Arg352=)
c.739A>C (p.Arg247=)
6g.73615370T>ACA364712266SLC17A5c.1056A>T (p.Leu352Phe)
c.1005A>T (p.Leu335Phe)
c.858A>T (p.Leu286Phe)
c.825A>T (p.Leu275Phe)
c.1077A>T (p.Leu359Phe)
c.969A>T (p.Leu323Phe)
c.897A>T (p.Leu299Phe)
c.1053A>T (p.Leu351Phe)
c.738A>T (p.Leu246Phe)
6g.73615370T>CCA450910047SLC17A5c.1056A>G (p.Leu352=)
c.1005A>G (p.Leu335=)
c.858A>G (p.Leu286=)
c.825A>G (p.Leu275=)
c.1077A>G (p.Leu359=)
c.969A>G (p.Leu323=)
c.897A>G (p.Leu299=)
c.1053A>G (p.Leu351=)
c.738A>G (p.Leu246=)
6g.73615370T>GCA140958543SLC17A5c.1056A>C (p.Leu352Phe)
c.1005A>C (p.Leu335Phe)
c.858A>C (p.Leu286Phe)
c.825A>C (p.Leu275Phe)
c.1077A>C (p.Leu359Phe)
c.969A>C (p.Leu323Phe)
c.897A>C (p.Leu299Phe)
c.1053A>C (p.Leu351Phe)
c.738A>C (p.Leu246Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.73615370T=CA1638231807SLC17A5c.1056A= (p.Leu352=)
c.1005A= (p.Leu335=)
c.858A= (p.Leu286=)
c.825A= (p.Leu275=)
c.1077A= (p.Leu359=)
c.969A= (p.Leu323=)
c.897A= (p.Leu299=)
c.1053A= (p.Leu351=)
c.738A= (p.Leu246=)
6g.73615371A>CCA364712267SLC17A5c.1055T>G (p.Leu352Ter)
c.1004T>G (p.Leu335Ter)
c.857T>G (p.Leu286Ter)
c.824T>G (p.Leu275Ter)
c.1076T>G (p.Leu359Ter)
c.968T>G (p.Leu323Ter)
c.896T>G (p.Leu299Ter)
c.1052T>G (p.Leu351Ter)
c.737T>G (p.Leu246Ter)
6g.73615371A>GCA364712268SLC17A5c.1055T>C (p.Leu352Ser)
c.1004T>C (p.Leu335Ser)
c.857T>C (p.Leu286Ser)
c.824T>C (p.Leu275Ser)
c.1076T>C (p.Leu359Ser)
c.968T>C (p.Leu323Ser)
c.896T>C (p.Leu299Ser)
c.1052T>C (p.Leu351Ser)
c.737T>C (p.Leu246Ser)
6g.73615371A>TCA364712269SLC17A5c.1055T>A (p.Leu352Ter)
c.1004T>A (p.Leu335Ter)
c.857T>A (p.Leu286Ter)
c.824T>A (p.Leu275Ter)
c.1076T>A (p.Leu359Ter)
c.968T>A (p.Leu323Ter)
c.896T>A (p.Leu299Ter)
c.1052T>A (p.Leu351Ter)
c.737T>A (p.Leu246Ter)
 dbSNP
6g.73615372A=CA1638231808SLC17A5c.1054T= (p.Leu352=)
c.1003T= (p.Leu335=)
c.856T= (p.Leu286=)
c.823T= (p.Leu275=)
c.1075T= (p.Leu359=)
c.967T= (p.Leu323=)
c.895T= (p.Leu299=)
c.1051T= (p.Leu351=)
c.736T= (p.Leu246=)
6g.73615372A>CCA140958545SLC17A5c.1054T>G (p.Leu352Val)
c.1003T>G (p.Leu335Val)
c.856T>G (p.Leu286Val)
c.823T>G (p.Leu275Val)
c.1075T>G (p.Leu359Val)
c.967T>G (p.Leu323Val)
c.895T>G (p.Leu299Val)
c.1051T>G (p.Leu351Val)
c.736T>G (p.Leu246Val)
 dbSNP
6g.73615372A>GCA450910048SLC17A5c.1054T>C (p.Leu352=)
c.1003T>C (p.Leu335=)
c.856T>C (p.Leu286=)
c.823T>C (p.Leu275=)
c.1075T>C (p.Leu359=)
c.967T>C (p.Leu323=)
c.895T>C (p.Leu299=)
c.1051T>C (p.Leu351=)
c.736T>C (p.Leu246=)
6g.73615372A>TCA364712270SLC17A5c.1054T>A (p.Leu352Ile)
c.1003T>A (p.Leu335Ile)
c.856T>A (p.Leu286Ile)
c.823T>A (p.Leu275Ile)
c.1075T>A (p.Leu359Ile)
c.967T>A (p.Leu323Ile)
c.895T>A (p.Leu299Ile)
c.1051T>A (p.Leu351Ile)
c.736T>A (p.Leu246Ile)
6g.73615373A>CCA364712271SLC17A5c.1053T>G (p.Asn351Lys)
c.1002T>G (p.Asn334Lys)
c.855T>G (p.Asn285Lys)
c.822T>G (p.Asn274Lys)
c.1074T>G (p.Asn358Lys)
c.966T>G (p.Asn322Lys)
c.894T>G (p.Asn298Lys)
c.1050T>G (p.Asn350Lys)
c.735T>G (p.Asn245Lys)
6g.73615373A>GCA450910049SLC17A5c.1053T>C (p.Asn351=)
c.1002T>C (p.Asn334=)
c.855T>C (p.Asn285=)
c.822T>C (p.Asn274=)
c.1074T>C (p.Asn358=)
c.966T>C (p.Asn322=)
c.894T>C (p.Asn298=)
c.1050T>C (p.Asn350=)
c.735T>C (p.Asn245=)
6g.73615373A>TCA364712272SLC17A5c.1053T>A (p.Asn351Lys)
c.1002T>A (p.Asn334Lys)
c.855T>A (p.Asn285Lys)
c.822T>A (p.Asn274Lys)
c.1074T>A (p.Asn358Lys)
c.966T>A (p.Asn322Lys)
c.894T>A (p.Asn298Lys)
c.1050T>A (p.Asn350Lys)
c.735T>A (p.Asn245Lys)
6g.73615374T>ACA364712273SLC17A5c.1052A>T (p.Asn351Ile)
c.1001A>T (p.Asn334Ile)
c.854A>T (p.Asn285Ile)
c.821A>T (p.Asn274Ile)
c.1073A>T (p.Asn358Ile)
c.965A>T (p.Asn322Ile)
c.893A>T (p.Asn298Ile)
c.1049A>T (p.Asn350Ile)
c.734A>T (p.Asn245Ile)
6g.73615374T>CCA364712274SLC17A5c.1052A>G (p.Asn351Ser)
c.1001A>G (p.Asn334Ser)
c.854A>G (p.Asn285Ser)
c.821A>G (p.Asn274Ser)
c.1073A>G (p.Asn358Ser)
c.965A>G (p.Asn322Ser)
c.893A>G (p.Asn298Ser)
c.1049A>G (p.Asn350Ser)
c.734A>G (p.Asn245Ser)
6g.73615374T>GCA364712275SLC17A5c.1052A>C (p.Asn351Thr)
c.1001A>C (p.Asn334Thr)
c.854A>C (p.Asn285Thr)
c.821A>C (p.Asn274Thr)
c.1073A>C (p.Asn358Thr)
c.965A>C (p.Asn322Thr)
c.893A>C (p.Asn298Thr)
c.1049A>C (p.Asn350Thr)
c.734A>C (p.Asn245Thr)
6g.73615375T>ACA364712278SLC17A5c.1051A>T (p.Asn351Tyr)
c.1000A>T (p.Asn334Tyr)
c.853A>T (p.Asn285Tyr)
c.820A>T (p.Asn274Tyr)
c.1072A>T (p.Asn358Tyr)
c.964A>T (p.Asn322Tyr)
c.892A>T (p.Asn298Tyr)
c.1048A>T (p.Asn350Tyr)
c.733A>T (p.Asn245Tyr)
6g.73615375T>CCA364712277SLC17A5c.1051A>G (p.Asn351Asp)
c.1000A>G (p.Asn334Asp)
c.853A>G (p.Asn285Asp)
c.820A>G (p.Asn274Asp)
c.1072A>G (p.Asn358Asp)
c.964A>G (p.Asn322Asp)
c.892A>G (p.Asn298Asp)
c.1048A>G (p.Asn350Asp)
c.733A>G (p.Asn245Asp)
6g.73615375T>GCA364712276SLC17A5c.1051A>C (p.Asn351His)
c.1000A>C (p.Asn334His)
c.853A>C (p.Asn285His)
c.820A>C (p.Asn274His)
c.1072A>C (p.Asn358His)
c.964A>C (p.Asn322His)
c.892A>C (p.Asn298His)
c.1048A>C (p.Asn350His)
c.733A>C (p.Asn245His)
6g.73615376G>ACA3890362SLC17A5c.1050C>T (p.Asp350=)
c.999C>T (p.Asp333=)
c.852C>T (p.Asp284=)
c.819C>T (p.Asp273=)
c.1071C>T (p.Asp357=)
c.963C>T (p.Asp321=)
c.891C>T (p.Asp297=)
c.1047C>T (p.Asp349=)
c.732C>T (p.Asp244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615376G>CCA364712279SLC17A5c.1050C>G (p.Asp350Glu)
c.999C>G (p.Asp333Glu)
c.852C>G (p.Asp284Glu)
c.819C>G (p.Asp273Glu)
c.1071C>G (p.Asp357Glu)
c.963C>G (p.Asp321Glu)
c.891C>G (p.Asp297Glu)
c.1047C>G (p.Asp349Glu)
c.732C>G (p.Asp244Glu)
6g.73615376G=CA1638231809SLC17A5c.1050C= (p.Asp350=)
c.999C= (p.Asp333=)
c.852C= (p.Asp284=)
c.819C= (p.Asp273=)
c.1071C= (p.Asp357=)
c.963C= (p.Asp321=)
c.891C= (p.Asp297=)
c.1047C= (p.Asp349=)
c.732C= (p.Asp244=)
6g.73615376G>TCA364712280SLC17A5c.1050C>A (p.Asp350Glu)
c.999C>A (p.Asp333Glu)
c.852C>A (p.Asp284Glu)
c.819C>A (p.Asp273Glu)
c.1071C>A (p.Asp357Glu)
c.963C>A (p.Asp321Glu)
c.891C>A (p.Asp297Glu)
c.1047C>A (p.Asp349Glu)
c.732C>A (p.Asp244Glu)
6g.73615377T>ACA364712281SLC17A5c.1049A>T (p.Asp350Val)
c.998A>T (p.Asp333Val)
c.851A>T (p.Asp284Val)
c.818A>T (p.Asp273Val)
c.1070A>T (p.Asp357Val)
c.962A>T (p.Asp321Val)
c.890A>T (p.Asp297Val)
c.1046A>T (p.Asp349Val)
c.731A>T (p.Asp244Val)
6g.73615377T>CCA364712282SLC17A5c.1049A>G (p.Asp350Gly)
c.998A>G (p.Asp333Gly)
c.851A>G (p.Asp284Gly)
c.818A>G (p.Asp273Gly)
c.1070A>G (p.Asp357Gly)
c.962A>G (p.Asp321Gly)
c.890A>G (p.Asp297Gly)
c.1046A>G (p.Asp349Gly)
c.731A>G (p.Asp244Gly)
6g.73615377T>GCA364712283SLC17A5c.1049A>C (p.Asp350Ala)
c.998A>C (p.Asp333Ala)
c.851A>C (p.Asp284Ala)
c.818A>C (p.Asp273Ala)
c.1070A>C (p.Asp357Ala)
c.962A>C (p.Asp321Ala)
c.890A>C (p.Asp297Ala)
c.1046A>C (p.Asp349Ala)
c.731A>C (p.Asp244Ala)
6g.73615378delCA2580075765SLC17A5c.1048del (p.Asp350ThrfsTer3)
c.997del (p.Asp333ThrfsTer3)
c.850del (p.Asp284ThrfsTer3)
c.817del (p.Asp273ThrfsTer3)
c.1069del (p.Asp357ThrfsTer3)
c.961del (p.Asp321ThrfsTer3)
c.889del (p.Asp297ThrfsTer3)
c.1045del (p.Asp349ThrfsTer3)
c.730del (p.Asp244ThrfsTer3)
 ClinVar
6g.73615378C>ACA364712284SLC17A5c.1048G>T (p.Asp350Tyr)
c.997G>T (p.Asp333Tyr)
c.850G>T (p.Asp284Tyr)
c.817G>T (p.Asp273Tyr)
c.1069G>T (p.Asp357Tyr)
c.961G>T (p.Asp321Tyr)
c.889G>T (p.Asp297Tyr)
c.1045G>T (p.Asp349Tyr)
c.730G>T (p.Asp244Tyr)
6g.73615378C>GCA364712285SLC17A5c.1048G>C (p.Asp350His)
c.997G>C (p.Asp333His)
c.850G>C (p.Asp284His)
c.817G>C (p.Asp273His)
c.1069G>C (p.Asp357His)
c.961G>C (p.Asp321His)
c.889G>C (p.Asp297His)
c.1045G>C (p.Asp349His)
c.730G>C (p.Asp244His)
6g.73615378C>TCA364712286SLC17A5c.1048G>A (p.Asp350Asn)
c.997G>A (p.Asp333Asn)
c.850G>A (p.Asp284Asn)
c.817G>A (p.Asp273Asn)
c.1069G>A (p.Asp357Asn)
c.961G>A (p.Asp321Asn)
c.889G>A (p.Asp297Asn)
c.1045G>A (p.Asp349Asn)
c.730G>A (p.Asp244Asn)
6g.73615379A=CA1638231810SLC17A5c.1047T= (p.Ala349=)
c.996T= (p.Ala332=)
c.849T= (p.Ala283=)
c.816T= (p.Ala272=)
c.1068T= (p.Ala356=)
c.960T= (p.Ala320=)
c.888T= (p.Ala296=)
c.1044T= (p.Ala348=)
c.729T= (p.Ala243=)
6g.73615379A>CCA450910050SLC17A5c.1047T>G (p.Ala349=)
c.996T>G (p.Ala332=)
c.849T>G (p.Ala283=)
c.816T>G (p.Ala272=)
c.1068T>G (p.Ala356=)
c.960T>G (p.Ala320=)
c.888T>G (p.Ala296=)
c.1044T>G (p.Ala348=)
c.729T>G (p.Ala243=)
6g.73615379A>GCA3890363SLC17A5c.1047T>C (p.Ala349=)
c.996T>C (p.Ala332=)
c.849T>C (p.Ala283=)
c.816T>C (p.Ala272=)
c.1068T>C (p.Ala356=)
c.960T>C (p.Ala320=)
c.888T>C (p.Ala296=)
c.1044T>C (p.Ala348=)
c.729T>C (p.Ala243=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615379A>TCA450910051SLC17A5c.1047T>A (p.Ala349=)
c.996T>A (p.Ala332=)
c.849T>A (p.Ala283=)
c.816T>A (p.Ala272=)
c.1068T>A (p.Ala356=)
c.960T>A (p.Ala320=)
c.888T>A (p.Ala296=)
c.1044T>A (p.Ala348=)
c.729T>A (p.Ala243=)
6g.73615380G>ACA364712287SLC17A5c.1046C>T (p.Ala349Val)
c.995C>T (p.Ala332Val)
c.848C>T (p.Ala283Val)
c.815C>T (p.Ala272Val)
c.1067C>T (p.Ala356Val)
c.959C>T (p.Ala320Val)
c.887C>T (p.Ala296Val)
c.1043C>T (p.Ala348Val)
c.728C>T (p.Ala243Val)
 ClinVar
6g.73615380G>CCA364712288SLC17A5c.1046C>G (p.Ala349Gly)
c.995C>G (p.Ala332Gly)
c.848C>G (p.Ala283Gly)
c.815C>G (p.Ala272Gly)
c.1067C>G (p.Ala356Gly)
c.959C>G (p.Ala320Gly)
c.887C>G (p.Ala296Gly)
c.1043C>G (p.Ala348Gly)
c.728C>G (p.Ala243Gly)
6g.73615380G>TCA364712289SLC17A5c.1046C>A (p.Ala349Asp)
c.995C>A (p.Ala332Asp)
c.848C>A (p.Ala283Asp)
c.815C>A (p.Ala272Asp)
c.1067C>A (p.Ala356Asp)
c.959C>A (p.Ala320Asp)
c.887C>A (p.Ala296Asp)
c.1043C>A (p.Ala348Asp)
c.728C>A (p.Ala243Asp)
6g.73615381C>ACA364712292SLC17A5c.1045G>T (p.Ala349Ser)
c.994G>T (p.Ala332Ser)
c.847G>T (p.Ala283Ser)
c.814G>T (p.Ala272Ser)
c.1066G>T (p.Ala356Ser)
c.958G>T (p.Ala320Ser)
c.886G>T (p.Ala296Ser)
c.1042G>T (p.Ala348Ser)
c.727G>T (p.Ala243Ser)
6g.73615381C=CA1638231811SLC17A5c.1045G= (p.Ala349=)
c.994G= (p.Ala332=)
c.847G= (p.Ala283=)
c.814G= (p.Ala272=)
c.1066G= (p.Ala356=)
c.958G= (p.Ala320=)
c.886G= (p.Ala296=)
c.1042G= (p.Ala348=)
c.727G= (p.Ala243=)
6g.73615381C>GCA364712290SLC17A5c.1045G>C (p.Ala349Pro)
c.994G>C (p.Ala332Pro)
c.847G>C (p.Ala283Pro)
c.814G>C (p.Ala272Pro)
c.1066G>C (p.Ala356Pro)
c.958G>C (p.Ala320Pro)
c.886G>C (p.Ala296Pro)
c.1042G>C (p.Ala348Pro)
c.727G>C (p.Ala243Pro)
6g.73615381C>TCA364712291SLC17A5c.1045G>A (p.Ala349Thr)
c.994G>A (p.Ala332Thr)
c.847G>A (p.Ala283Thr)
c.814G>A (p.Ala272Thr)
c.1066G>A (p.Ala356Thr)
c.958G>A (p.Ala320Thr)
c.886G>A (p.Ala296Thr)
c.1042G>A (p.Ala348Thr)
c.727G>A (p.Ala243Thr)
 ClinVar dbSNP
6g.73615382A=CA1638231812SLC17A5c.1044T= (p.Ala348=)
c.993T= (p.Ala331=)
c.846T= (p.Ala282=)
c.813T= (p.Ala271=)
c.1065T= (p.Ala355=)
c.957T= (p.Ala319=)
c.885T= (p.Ala295=)
c.1041T= (p.Ala347=)
c.726T= (p.Ala242=)
6g.73615382A>CCA450910052SLC17A5c.1044T>G (p.Ala348=)
c.993T>G (p.Ala331=)
c.846T>G (p.Ala282=)
c.813T>G (p.Ala271=)
c.1065T>G (p.Ala355=)
c.957T>G (p.Ala319=)
c.885T>G (p.Ala295=)
c.1041T>G (p.Ala347=)
c.726T>G (p.Ala242=)
 dbSNP gnomAD v2
6g.73615382A>GCA450910053SLC17A5c.1044T>C (p.Ala348=)
c.993T>C (p.Ala331=)
c.846T>C (p.Ala282=)
c.813T>C (p.Ala271=)
c.1065T>C (p.Ala355=)
c.957T>C (p.Ala319=)
c.885T>C (p.Ala295=)
c.1041T>C (p.Ala347=)
c.726T>C (p.Ala242=)
6g.73615382A>TCA450910054SLC17A5c.1044T>A (p.Ala348=)
c.993T>A (p.Ala331=)
c.846T>A (p.Ala282=)
c.813T>A (p.Ala271=)
c.1065T>A (p.Ala355=)
c.957T>A (p.Ala319=)
c.885T>A (p.Ala295=)
c.1041T>A (p.Ala347=)
c.726T>A (p.Ala242=)
6g.73615383_73615384insAATTTTTAGCA2510642169SLC17A5c.1044_1045insAAAAATTCT (p.Ala348_Ala349insLysAsnSer)
c.993_994insAAAAATTCT (p.Ala331_Ala332insLysAsnSer)
c.846_847insAAAAATTCT (p.Ala282_Ala283insLysAsnSer)
c.813_814insAAAAATTCT (p.Ala271_Ala272insLysAsnSer)
c.1065_1066insAAAAATTCT (p.Ala355_Ala356insLysAsnSer)
c.957_958insAAAAATTCT (p.Ala319_Ala320insLysAsnSer)
c.885_886insAAAAATTCT (p.Ala295_Ala296insLysAsnSer)
c.1041_1042insAAAAATTCT (p.Ala347_Ala348insLysAsnSer)
c.726_727insAAAAATTCT (p.Ala242_Ala243insLysAsnSer)
6g.73615383G>ACA364712293SLC17A5c.1043C>T (p.Ala348Val)
c.992C>T (p.Ala331Val)
c.845C>T (p.Ala282Val)
c.812C>T (p.Ala271Val)
c.1064C>T (p.Ala355Val)
c.956C>T (p.Ala319Val)
c.884C>T (p.Ala295Val)
c.1040C>T (p.Ala347Val)
c.725C>T (p.Ala242Val)
 gnomAD v4
6g.73615383G>CCA364712294SLC17A5c.1043C>G (p.Ala348Gly)
c.992C>G (p.Ala331Gly)
c.845C>G (p.Ala282Gly)
c.812C>G (p.Ala271Gly)
c.1064C>G (p.Ala355Gly)
c.956C>G (p.Ala319Gly)
c.884C>G (p.Ala295Gly)
c.1040C>G (p.Ala347Gly)
c.725C>G (p.Ala242Gly)
6g.73615383G>TCA364712295SLC17A5c.1043C>A (p.Ala348Asp)
c.992C>A (p.Ala331Asp)
c.845C>A (p.Ala282Asp)
c.812C>A (p.Ala271Asp)
c.1064C>A (p.Ala355Asp)
c.956C>A (p.Ala319Asp)
c.884C>A (p.Ala295Asp)
c.1040C>A (p.Ala347Asp)
c.725C>A (p.Ala242Asp)
6g.73615384C>ACA364712296SLC17A5c.1042G>T (p.Ala348Ser)
c.991G>T (p.Ala331Ser)
c.844G>T (p.Ala282Ser)
c.811G>T (p.Ala271Ser)
c.1063G>T (p.Ala355Ser)
c.955G>T (p.Ala319Ser)
c.883G>T (p.Ala295Ser)
c.1039G>T (p.Ala347Ser)
c.724G>T (p.Ala242Ser)
6g.73615384C=CA1638231813SLC17A5c.1042G= (p.Ala348=)
c.991G= (p.Ala331=)
c.844G= (p.Ala282=)
c.811G= (p.Ala271=)
c.1063G= (p.Ala355=)
c.955G= (p.Ala319=)
c.883G= (p.Ala295=)
c.1039G= (p.Ala347=)
c.724G= (p.Ala242=)
6g.73615384C>GCA364712297SLC17A5c.1042G>C (p.Ala348Pro)
c.991G>C (p.Ala331Pro)
c.844G>C (p.Ala282Pro)
c.811G>C (p.Ala271Pro)
c.1063G>C (p.Ala355Pro)
c.955G>C (p.Ala319Pro)
c.883G>C (p.Ala295Pro)
c.1039G>C (p.Ala347Pro)
c.724G>C (p.Ala242Pro)
6g.73615384C>TCA140958551SLC17A5c.1042G>A (p.Ala348Thr)
c.991G>A (p.Ala331Thr)
c.844G>A (p.Ala282Thr)
c.811G>A (p.Ala271Thr)
c.1063G>A (p.Ala355Thr)
c.955G>A (p.Ala319Thr)
c.883G>A (p.Ala295Thr)
c.1039G>A (p.Ala347Thr)
c.724G>A (p.Ala242Thr)
 dbSNP gnomAD v4
6g.73615385T>ACA364712298SLC17A5c.1041A>T (p.Gln347His)
c.990A>T (p.Gln330His)
c.843A>T (p.Gln281His)
c.810A>T (p.Gln270His)
c.1062A>T (p.Gln354His)
c.954A>T (p.Gln318His)
c.882A>T (p.Gln294His)
c.1038A>T (p.Gln346His)
c.723A>T (p.Gln241His)
6g.73615385T>CCA450910055SLC17A5c.1041A>G (p.Gln347=)
c.990A>G (p.Gln330=)
c.843A>G (p.Gln281=)
c.810A>G (p.Gln270=)
c.1062A>G (p.Gln354=)
c.954A>G (p.Gln318=)
c.882A>G (p.Gln294=)
c.1038A>G (p.Gln346=)
c.723A>G (p.Gln241=)
6g.73615385T>GCA364712299SLC17A5c.1041A>C (p.Gln347His)
c.990A>C (p.Gln330His)
c.843A>C (p.Gln281His)
c.810A>C (p.Gln270His)
c.1062A>C (p.Gln354His)
c.954A>C (p.Gln318His)
c.882A>C (p.Gln294His)
c.1038A>C (p.Gln346His)
c.723A>C (p.Gln241His)
6g.73615386T>ACA364712300SLC17A5c.1040A>T (p.Gln347Leu)
c.989A>T (p.Gln330Leu)
c.842A>T (p.Gln281Leu)
c.809A>T (p.Gln270Leu)
c.1061A>T (p.Gln354Leu)
c.953A>T (p.Gln318Leu)
c.881A>T (p.Gln294Leu)
c.1037A>T (p.Gln346Leu)
c.722A>T (p.Gln241Leu)
6g.73615386T>CCA364712301SLC17A5c.1040A>G (p.Gln347Arg)
c.989A>G (p.Gln330Arg)
c.842A>G (p.Gln281Arg)
c.809A>G (p.Gln270Arg)
c.1061A>G (p.Gln354Arg)
c.953A>G (p.Gln318Arg)
c.881A>G (p.Gln294Arg)
c.1037A>G (p.Gln346Arg)
c.722A>G (p.Gln241Arg)
6g.73615386T>GCA364712302SLC17A5c.1040A>C (p.Gln347Pro)
c.989A>C (p.Gln330Pro)
c.842A>C (p.Gln281Pro)
c.809A>C (p.Gln270Pro)
c.1061A>C (p.Gln354Pro)
c.953A>C (p.Gln318Pro)
c.881A>C (p.Gln294Pro)
c.1037A>C (p.Gln346Pro)
c.722A>C (p.Gln241Pro)
6g.73615387G>ACA364712303SLC17A5c.1039C>T (p.Gln347Ter)
c.988C>T (p.Gln330Ter)
c.841C>T (p.Gln281Ter)
c.808C>T (p.Gln270Ter)
c.1060C>T (p.Gln354Ter)
c.952C>T (p.Gln318Ter)
c.880C>T (p.Gln294Ter)
c.1036C>T (p.Gln346Ter)
c.721C>T (p.Gln241Ter)
 ClinVar
6g.73615387G>CCA364712305SLC17A5c.1039C>G (p.Gln347Glu)
c.988C>G (p.Gln330Glu)
c.841C>G (p.Gln281Glu)
c.808C>G (p.Gln270Glu)
c.1060C>G (p.Gln354Glu)
c.952C>G (p.Gln318Glu)
c.880C>G (p.Gln294Glu)
c.1036C>G (p.Gln346Glu)
c.721C>G (p.Gln241Glu)
 gnomAD v4
6g.73615387G>TCA364712304SLC17A5c.1039C>A (p.Gln347Lys)
c.988C>A (p.Gln330Lys)
c.841C>A (p.Gln281Lys)
c.808C>A (p.Gln270Lys)
c.1060C>A (p.Gln354Lys)
c.952C>A (p.Gln318Lys)
c.880C>A (p.Gln294Lys)
c.1036C>A (p.Gln346Lys)
c.721C>A (p.Gln241Lys)
6g.73615388A=CA1638231814SLC17A5c.1038T= (p.Gly346=)
c.987T= (p.Gly329=)
c.840T= (p.Gly280=)
c.807T= (p.Gly269=)
c.1059T= (p.Gly353=)
c.951T= (p.Gly317=)
c.879T= (p.Gly293=)
c.1035T= (p.Gly345=)
c.720T= (p.Gly240=)
6g.73615388A>CCA140958556SLC17A5c.1038T>G (p.Gly346=)
c.987T>G (p.Gly329=)
c.840T>G (p.Gly280=)
c.807T>G (p.Gly269=)
c.1059T>G (p.Gly353=)
c.951T>G (p.Gly317=)
c.879T>G (p.Gly293=)
c.1035T>G (p.Gly345=)
c.720T>G (p.Gly240=)
 dbSNP
6g.73615388A>GCA450910056SLC17A5c.1038T>C (p.Gly346=)
c.987T>C (p.Gly329=)
c.840T>C (p.Gly280=)
c.807T>C (p.Gly269=)
c.1059T>C (p.Gly353=)
c.951T>C (p.Gly317=)
c.879T>C (p.Gly293=)
c.1035T>C (p.Gly345=)
c.720T>C (p.Gly240=)
6g.73615388A>TCA450910057SLC17A5c.1038T>A (p.Gly346=)
c.987T>A (p.Gly329=)
c.840T>A (p.Gly280=)
c.807T>A (p.Gly269=)
c.1059T>A (p.Gly353=)
c.951T>A (p.Gly317=)
c.879T>A (p.Gly293=)
c.1035T>A (p.Gly345=)
c.720T>A (p.Gly240=)
6g.73615389C>ACA364712306SLC17A5c.1037G>T (p.Gly346Val)
c.986G>T (p.Gly329Val)
c.839G>T (p.Gly280Val)
c.806G>T (p.Gly269Val)
c.1058G>T (p.Gly353Val)
c.950G>T (p.Gly317Val)
c.878G>T (p.Gly293Val)
c.1034G>T (p.Gly345Val)
c.719G>T (p.Gly240Val)
6g.73615389C=CA1638231815SLC17A5c.1037G= (p.Gly346=)
c.986G= (p.Gly329=)
c.839G= (p.Gly280=)
c.806G= (p.Gly269=)
c.1058G= (p.Gly353=)
c.950G= (p.Gly317=)
c.878G= (p.Gly293=)
c.1034G= (p.Gly345=)
c.719G= (p.Gly240=)
6g.73615389C>GCA364712307SLC17A5c.1037G>C (p.Gly346Ala)
c.986G>C (p.Gly329Ala)
c.839G>C (p.Gly280Ala)
c.806G>C (p.Gly269Ala)
c.1058G>C (p.Gly353Ala)
c.950G>C (p.Gly317Ala)
c.878G>C (p.Gly293Ala)
c.1034G>C (p.Gly345Ala)
c.719G>C (p.Gly240Ala)
6g.73615389C>TCA140958557SLC17A5c.1037G>A (p.Gly346Asp)
c.986G>A (p.Gly329Asp)
c.839G>A (p.Gly280Asp)
c.806G>A (p.Gly269Asp)
c.1058G>A (p.Gly353Asp)
c.950G>A (p.Gly317Asp)
c.878G>A (p.Gly293Asp)
c.1034G>A (p.Gly345Asp)
c.719G>A (p.Gly240Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.73615390C>ACA364712308SLC17A5c.1036G>T (p.Gly346Cys)
c.985G>T (p.Gly329Cys)
c.838G>T (p.Gly280Cys)
c.805G>T (p.Gly269Cys)
c.1057G>T (p.Gly353Cys)
c.949G>T (p.Gly317Cys)
c.877G>T (p.Gly293Cys)
c.1033G>T (p.Gly345Cys)
c.718G>T (p.Gly240Cys)
6g.73615390C>GCA364712310SLC17A5c.1036G>C (p.Gly346Arg)
c.985G>C (p.Gly329Arg)
c.838G>C (p.Gly280Arg)
c.805G>C (p.Gly269Arg)
c.1057G>C (p.Gly353Arg)
c.949G>C (p.Gly317Arg)
c.877G>C (p.Gly293Arg)
c.1033G>C (p.Gly345Arg)
c.718G>C (p.Gly240Arg)
6g.73615390C>TCA364712309SLC17A5c.1036G>A (p.Gly346Ser)
c.985G>A (p.Gly329Ser)
c.838G>A (p.Gly280Ser)
c.805G>A (p.Gly269Ser)
c.1057G>A (p.Gly353Ser)
c.949G>A (p.Gly317Ser)
c.877G>A (p.Gly293Ser)
c.1033G>A (p.Gly345Ser)
c.718G>A (p.Gly240Ser)
6g.73615390_73615391insTGTGTATAAGCA2580075766SLC17A5c.1035_1036insCTTATACACA (p.Gly346LeufsTer8)
c.984_985insCTTATACACA (p.Gly329LeufsTer8)
c.837_838insCTTATACACA (p.Gly280LeufsTer8)
c.804_805insCTTATACACA (p.Gly269LeufsTer8)
c.1056_1057insCTTATACACA (p.Gly353LeufsTer8)
c.948_949insCTTATACACA (p.Gly317LeufsTer8)
c.876_877insCTTATACACA (p.Gly293LeufsTer8)
c.1032_1033insCTTATACACA (p.Gly345LeufsTer8)
c.717_718insCTTATACACA (p.Gly240LeufsTer8)
 ClinVar
6g.73615391A>CCA450910058SLC17A5c.1035T>G (p.Ser345=)
c.984T>G (p.Ser328=)
c.837T>G (p.Ser279=)
c.804T>G (p.Ser268=)
c.1056T>G (p.Ser352=)
c.948T>G (p.Ser316=)
c.876T>G (p.Ser292=)
c.1032T>G (p.Ser344=)
c.717T>G (p.Ser239=)
6g.73615391A>GCA450910059SLC17A5c.1035T>C (p.Ser345=)
c.984T>C (p.Ser328=)
c.837T>C (p.Ser279=)
c.804T>C (p.Ser268=)
c.1056T>C (p.Ser352=)
c.948T>C (p.Ser316=)
c.876T>C (p.Ser292=)
c.1032T>C (p.Ser344=)
c.717T>C (p.Ser239=)
6g.73615391A>TCA450910060SLC17A5c.1035T>A (p.Ser345=)
c.984T>A (p.Ser328=)
c.837T>A (p.Ser279=)
c.804T>A (p.Ser268=)
c.1056T>A (p.Ser352=)
c.948T>A (p.Ser316=)
c.876T>A (p.Ser292=)
c.1032T>A (p.Ser344=)
c.717T>A (p.Ser239=)
6g.73615392G>ACA364712311SLC17A5c.1034C>T (p.Ser345Phe)
c.983C>T (p.Ser328Phe)
c.836C>T (p.Ser279Phe)
c.803C>T (p.Ser268Phe)
c.1055C>T (p.Ser352Phe)
c.947C>T (p.Ser316Phe)
c.875C>T (p.Ser292Phe)
c.1031C>T (p.Ser344Phe)
c.716C>T (p.Ser239Phe)
6g.73615392G>CCA364712312SLC17A5c.1034C>G (p.Ser345Cys)
c.983C>G (p.Ser328Cys)
c.836C>G (p.Ser279Cys)
c.803C>G (p.Ser268Cys)
c.1055C>G (p.Ser352Cys)
c.947C>G (p.Ser316Cys)
c.875C>G (p.Ser292Cys)
c.1031C>G (p.Ser344Cys)
c.716C>G (p.Ser239Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.73615392G=CA1638231816SLC17A5c.1034C= (p.Ser345=)
c.983C= (p.Ser328=)
c.836C= (p.Ser279=)
c.803C= (p.Ser268=)
c.1055C= (p.Ser352=)
c.947C= (p.Ser316=)
c.875C= (p.Ser292=)
c.1031C= (p.Ser344=)
c.716C= (p.Ser239=)
6g.73615392G>TCA364712313SLC17A5c.1034C>A (p.Ser345Tyr)
c.983C>A (p.Ser328Tyr)
c.836C>A (p.Ser279Tyr)
c.803C>A (p.Ser268Tyr)
c.1055C>A (p.Ser352Tyr)
c.947C>A (p.Ser316Tyr)
c.875C>A (p.Ser292Tyr)
c.1031C>A (p.Ser344Tyr)
c.716C>A (p.Ser239Tyr)
6g.73615393A>CCA364712314SLC17A5c.1033T>G (p.Ser345Ala)
c.982T>G (p.Ser328Ala)
c.835T>G (p.Ser279Ala)
c.802T>G (p.Ser268Ala)
c.1054T>G (p.Ser352Ala)
c.946T>G (p.Ser316Ala)
c.874T>G (p.Ser292Ala)
c.1030T>G (p.Ser344Ala)
c.715T>G (p.Ser239Ala)
6g.73615393A>GCA364712315SLC17A5c.1033T>C (p.Ser345Pro)
c.982T>C (p.Ser328Pro)
c.835T>C (p.Ser279Pro)
c.802T>C (p.Ser268Pro)
c.1054T>C (p.Ser352Pro)
c.946T>C (p.Ser316Pro)
c.874T>C (p.Ser292Pro)
c.1030T>C (p.Ser344Pro)
c.715T>C (p.Ser239Pro)
6g.73615393A>TCA364712316SLC17A5c.1033T>A (p.Ser345Thr)
c.982T>A (p.Ser328Thr)
c.835T>A (p.Ser279Thr)
c.802T>A (p.Ser268Thr)
c.1054T>A (p.Ser352Thr)
c.946T>A (p.Ser316Thr)
c.874T>A (p.Ser292Thr)
c.1030T>A (p.Ser344Thr)
c.715T>A (p.Ser239Thr)
6g.73615394C>ACA450910063SLC17A5c.1032G>T (p.Leu344=)
c.981G>T (p.Leu327=)
c.834G>T (p.Leu278=)
c.801G>T (p.Leu267=)
c.1053G>T (p.Leu351=)
c.945G>T (p.Leu315=)
c.873G>T (p.Leu291=)
c.1029G>T (p.Leu343=)
c.714G>T (p.Leu238=)
6g.73615394C>GCA450910061SLC17A5c.1032G>C (p.Leu344=)
c.981G>C (p.Leu327=)
c.834G>C (p.Leu278=)
c.801G>C (p.Leu267=)
c.1053G>C (p.Leu351=)
c.945G>C (p.Leu315=)
c.873G>C (p.Leu291=)
c.1029G>C (p.Leu343=)
c.714G>C (p.Leu238=)
6g.73615394C>TCA450910062SLC17A5c.1032G>A (p.Leu344=)
c.981G>A (p.Leu327=)
c.834G>A (p.Leu278=)
c.801G>A (p.Leu267=)
c.1053G>A (p.Leu351=)
c.945G>A (p.Leu315=)
c.873G>A (p.Leu291=)
c.1029G>A (p.Leu343=)
c.714G>A (p.Leu238=)
 ClinVar dbSNP gnomAD v4
6g.73615395A>CCA364712317SLC17A5c.1031T>G (p.Leu344Arg)
c.980T>G (p.Leu327Arg)
c.833T>G (p.Leu278Arg)
c.800T>G (p.Leu267Arg)
c.1052T>G (p.Leu351Arg)
c.944T>G (p.Leu315Arg)
c.872T>G (p.Leu291Arg)
c.1028T>G (p.Leu343Arg)
c.713T>G (p.Leu238Arg)
6g.73615395A>GCA364712318SLC17A5c.1031T>C (p.Leu344Pro)
c.980T>C (p.Leu327Pro)
c.833T>C (p.Leu278Pro)
c.800T>C (p.Leu267Pro)
c.1052T>C (p.Leu351Pro)
c.944T>C (p.Leu315Pro)
c.872T>C (p.Leu291Pro)
c.1028T>C (p.Leu343Pro)
c.713T>C (p.Leu238Pro)
6g.73615395A>TCA364712319SLC17A5c.1031T>A (p.Leu344Gln)
c.980T>A (p.Leu327Gln)
c.833T>A (p.Leu278Gln)
c.800T>A (p.Leu267Gln)
c.1052T>A (p.Leu351Gln)
c.944T>A (p.Leu315Gln)
c.872T>A (p.Leu291Gln)
c.1028T>A (p.Leu343Gln)
c.713T>A (p.Leu238Gln)
6g.73615395_73615396delinsAGCA1638231817SLC17A5c.1030_1031delinsCT (p.Leu344=)
c.979_980delinsCT (p.Leu327=)
c.832_833delinsCT (p.Leu278=)
c.799_800delinsCT (p.Leu267=)
c.1051_1052delinsCT (p.Leu351=)
c.943_944delinsCT (p.Leu315=)
c.871_872delinsCT (p.Leu291=)
c.1027_1028delinsCT (p.Leu343=)
c.712_713delinsCT (p.Leu238=)
6g.73615396G>ACA450910064SLC17A5c.1030C>T (p.Leu344=)
c.979C>T (p.Leu327=)
c.832C>T (p.Leu278=)
c.799C>T (p.Leu267=)
c.1051C>T (p.Leu351=)
c.943C>T (p.Leu315=)
c.871C>T (p.Leu291=)
c.1027C>T (p.Leu343=)
c.712C>T (p.Leu238=)
6g.73615396G>CCA364712320SLC17A5c.1030C>G (p.Leu344Val)
c.979C>G (p.Leu327Val)
c.832C>G (p.Leu278Val)
c.799C>G (p.Leu267Val)
c.1051C>G (p.Leu351Val)
c.943C>G (p.Leu315Val)
c.871C>G (p.Leu291Val)
c.1027C>G (p.Leu343Val)
c.712C>G (p.Leu238Val)
6g.73615396G>TCA364712321SLC17A5c.1030C>A (p.Leu344Met)
c.979C>A (p.Leu327Met)
c.832C>A (p.Leu278Met)
c.799C>A (p.Leu267Met)
c.1051C>A (p.Leu351Met)
c.943C>A (p.Leu315Met)
c.871C>A (p.Leu291Met)
c.1027C>A (p.Leu343Met)
c.712C>A (p.Leu238Met)
6g.73615397delCA567681998SLC17A5c.1030del (p.Leu344CysfsTer9)
c.979del (p.Leu327CysfsTer9)
c.832del (p.Leu278CysfsTer9)
c.799del (p.Leu267CysfsTer9)
c.1051del (p.Leu351CysfsTer9)
c.943del (p.Leu315CysfsTer9)
c.871del (p.Leu291CysfsTer9)
c.1027del (p.Leu343CysfsTer9)
c.712del (p.Leu238CysfsTer9)
 dbSNP gnomAD v2 gnomAD v4
6g.73615397G>ACA450910065SLC17A5c.1029C>T (p.Ile343=)
c.978C>T (p.Ile326=)
c.831C>T (p.Ile277=)
c.798C>T (p.Ile266=)
c.1050C>T (p.Ile350=)
c.942C>T (p.Ile314=)
c.870C>T (p.Ile290=)
c.1026C>T (p.Ile342=)
c.711C>T (p.Ile237=)
 dbSNP gnomAD v3 gnomAD v4
6g.73615397G>CCA364712322SLC17A5c.1029C>G (p.Ile343Met)
c.978C>G (p.Ile326Met)
c.831C>G (p.Ile277Met)
c.798C>G (p.Ile266Met)
c.1050C>G (p.Ile350Met)
c.942C>G (p.Ile314Met)
c.870C>G (p.Ile290Met)
c.1026C>G (p.Ile342Met)
c.711C>G (p.Ile237Met)
6g.73615397G=CA1638231818SLC17A5c.1029C= (p.Ile343=)
c.978C= (p.Ile326=)
c.831C= (p.Ile277=)
c.798C= (p.Ile266=)
c.1050C= (p.Ile350=)
c.942C= (p.Ile314=)
c.870C= (p.Ile290=)
c.1026C= (p.Ile342=)
c.711C= (p.Ile237=)
6g.73615397G>TCA450910066SLC17A5c.1029C>A (p.Ile343=)
c.978C>A (p.Ile326=)
c.831C>A (p.Ile277=)
c.798C>A (p.Ile266=)
c.1050C>A (p.Ile350=)
c.942C>A (p.Ile314=)
c.870C>A (p.Ile290=)
c.1026C>A (p.Ile342=)
c.711C>A (p.Ile237=)
6g.73615398A>CCA364712323SLC17A5c.1028T>G (p.Ile343Ser)
c.977T>G (p.Ile326Ser)
c.830T>G (p.Ile277Ser)
c.797T>G (p.Ile266Ser)
c.1049T>G (p.Ile350Ser)
c.941T>G (p.Ile314Ser)
c.869T>G (p.Ile290Ser)
c.1025T>G (p.Ile342Ser)
c.710T>G (p.Ile237Ser)
6g.73615398A>GCA364712325SLC17A5c.1028T>C (p.Ile343Thr)
c.977T>C (p.Ile326Thr)
c.830T>C (p.Ile277Thr)
c.797T>C (p.Ile266Thr)
c.1049T>C (p.Ile350Thr)
c.941T>C (p.Ile314Thr)
c.869T>C (p.Ile290Thr)
c.1025T>C (p.Ile342Thr)
c.710T>C (p.Ile237Thr)
6g.73615398A>TCA364712324SLC17A5c.1028T>A (p.Ile343Asn)
c.977T>A (p.Ile326Asn)
c.830T>A (p.Ile277Asn)
c.797T>A (p.Ile266Asn)
c.1049T>A (p.Ile350Asn)
c.941T>A (p.Ile314Asn)
c.869T>A (p.Ile290Asn)
c.1025T>A (p.Ile342Asn)
c.710T>A (p.Ile237Asn)
6g.73615399T>ACA364712326SLC17A5c.1027A>T (p.Ile343Phe)
c.976A>T (p.Ile326Phe)
c.829A>T (p.Ile277Phe)
c.796A>T (p.Ile266Phe)
c.1048A>T (p.Ile350Phe)
c.940A>T (p.Ile314Phe)
c.868A>T (p.Ile290Phe)
c.1024A>T (p.Ile342Phe)
c.709A>T (p.Ile237Phe)
6g.73615399T>CCA364712327SLC17A5c.1027A>G (p.Ile343Val)
c.976A>G (p.Ile326Val)
c.829A>G (p.Ile277Val)
c.796A>G (p.Ile266Val)
c.1048A>G (p.Ile350Val)
c.940A>G (p.Ile314Val)
c.868A>G (p.Ile290Val)
c.1024A>G (p.Ile342Val)
c.709A>G (p.Ile237Val)
6g.73615399T>GCA364712328SLC17A5c.1027A>C (p.Ile343Leu)
c.976A>C (p.Ile326Leu)
c.829A>C (p.Ile277Leu)
c.796A>C (p.Ile266Leu)
c.1048A>C (p.Ile350Leu)
c.940A>C (p.Ile314Leu)
c.868A>C (p.Ile290Leu)
c.1024A>C (p.Ile342Leu)
c.709A>C (p.Ile237Leu)
6g.73615400C>ACA364712329SLC17A5c.1026G>T (p.Met342Ile)
c.975G>T (p.Met325Ile)
c.828G>T (p.Met276Ile)
c.795G>T (p.Met265Ile)
c.1047G>T (p.Met349Ile)
c.939G>T (p.Met313Ile)
c.867G>T (p.Met289Ile)
c.1023G>T (p.Met341Ile)
c.708G>T (p.Met236Ile)
6g.73615400C>GCA364712330SLC17A5c.1026G>C (p.Met342Ile)
c.975G>C (p.Met325Ile)
c.828G>C (p.Met276Ile)
c.795G>C (p.Met265Ile)
c.1047G>C (p.Met349Ile)
c.939G>C (p.Met313Ile)
c.867G>C (p.Met289Ile)
c.1023G>C (p.Met341Ile)
c.708G>C (p.Met236Ile)
6g.73615400C>TCA364712331SLC17A5c.1026G>A (p.Met342Ile)
c.975G>A (p.Met325Ile)
c.828G>A (p.Met276Ile)
c.795G>A (p.Met265Ile)
c.1047G>A (p.Met349Ile)
c.939G>A (p.Met313Ile)
c.867G>A (p.Met289Ile)
c.1023G>A (p.Met341Ile)
c.708G>A (p.Met236Ile)
6g.73615401A>CCA364712332SLC17A5c.1025T>G (p.Met342Arg)
c.974T>G (p.Met325Arg)
c.827T>G (p.Met276Arg)
c.794T>G (p.Met265Arg)
c.1046T>G (p.Met349Arg)
c.938T>G (p.Met313Arg)
c.866T>G (p.Met289Arg)
c.1022T>G (p.Met341Arg)
c.707T>G (p.Met236Arg)
6g.73615401A>GCA364712333SLC17A5c.1025T>C (p.Met342Thr)
c.974T>C (p.Met325Thr)
c.827T>C (p.Met276Thr)
c.794T>C (p.Met265Thr)
c.1046T>C (p.Met349Thr)
c.938T>C (p.Met313Thr)
c.866T>C (p.Met289Thr)
c.1022T>C (p.Met341Thr)
c.707T>C (p.Met236Thr)
 gnomAD v4
6g.73615401A>TCA364712334SLC17A5c.1025T>A (p.Met342Lys)
c.974T>A (p.Met325Lys)
c.827T>A (p.Met276Lys)
c.794T>A (p.Met265Lys)
c.1046T>A (p.Met349Lys)
c.938T>A (p.Met313Lys)
c.866T>A (p.Met289Lys)
c.1022T>A (p.Met341Lys)
c.707T>A (p.Met236Lys)
6g.73615402T>ACA364712336SLC17A5c.1024A>T (p.Met342Leu)
c.973A>T (p.Met325Leu)
c.826A>T (p.Met276Leu)
c.793A>T (p.Met265Leu)
c.1045A>T (p.Met349Leu)
c.937A>T (p.Met313Leu)
c.865A>T (p.Met289Leu)
c.1021A>T (p.Met341Leu)
c.706A>T (p.Met236Leu)
6g.73615402T>CCA364712337SLC17A5c.1024A>G (p.Met342Val)
c.973A>G (p.Met325Val)
c.826A>G (p.Met276Val)
c.793A>G (p.Met265Val)
c.1045A>G (p.Met349Val)
c.937A>G (p.Met313Val)
c.865A>G (p.Met289Val)
c.1021A>G (p.Met341Val)
c.706A>G (p.Met236Val)
6g.73615402T>GCA364712335SLC17A5c.1024A>C (p.Met342Leu)
c.973A>C (p.Met325Leu)
c.826A>C (p.Met276Leu)
c.793A>C (p.Met265Leu)
c.1045A>C (p.Met349Leu)
c.937A>C (p.Met313Leu)
c.865A>C (p.Met289Leu)
c.1021A>C (p.Met341Leu)
c.706A>C (p.Met236Leu)
6g.73615403A>CCA364712338SLC17A5c.1023T>G (p.Cys341Trp)
c.972T>G (p.Cys324Trp)
c.825T>G (p.Cys275Trp)
c.792T>G (p.Cys264Trp)
c.1044T>G (p.Cys348Trp)
c.936T>G (p.Cys312Trp)
c.864T>G (p.Cys288Trp)
c.1020T>G (p.Cys340Trp)
c.705T>G (p.Cys235Trp)
6g.73615403A>GCA450910067SLC17A5c.1023T>C (p.Cys341=)
c.972T>C (p.Cys324=)
c.825T>C (p.Cys275=)
c.792T>C (p.Cys264=)
c.1044T>C (p.Cys348=)
c.936T>C (p.Cys312=)
c.864T>C (p.Cys288=)
c.1020T>C (p.Cys340=)
c.705T>C (p.Cys235=)
 ClinVar
6g.73615403A>TCA364712339SLC17A5c.1023T>A (p.Cys341Ter)
c.972T>A (p.Cys324Ter)
c.825T>A (p.Cys275Ter)
c.792T>A (p.Cys264Ter)
c.1044T>A (p.Cys348Ter)
c.936T>A (p.Cys312Ter)
c.864T>A (p.Cys288Ter)
c.1020T>A (p.Cys340Ter)
c.705T>A (p.Cys235Ter)
6g.73615404C>ACA364712340SLC17A5c.1022G>T (p.Cys341Phe)
c.971G>T (p.Cys324Phe)
c.824G>T (p.Cys275Phe)
c.791G>T (p.Cys264Phe)
c.1043G>T (p.Cys348Phe)
c.935G>T (p.Cys312Phe)
c.863G>T (p.Cys288Phe)
c.1019G>T (p.Cys340Phe)
c.704G>T (p.Cys235Phe)
6g.73615404C=CA1638231819SLC17A5c.1022G= (p.Cys341=)
c.971G= (p.Cys324=)
c.824G= (p.Cys275=)
c.791G= (p.Cys264=)
c.1043G= (p.Cys348=)
c.935G= (p.Cys312=)
c.863G= (p.Cys288=)
c.1019G= (p.Cys340=)
c.704G= (p.Cys235=)
6g.73615404C>GCA364712341SLC17A5c.1022G>C (p.Cys341Ser)
c.971G>C (p.Cys324Ser)
c.824G>C (p.Cys275Ser)
c.791G>C (p.Cys264Ser)
c.1043G>C (p.Cys348Ser)
c.935G>C (p.Cys312Ser)
c.863G>C (p.Cys288Ser)
c.1019G>C (p.Cys340Ser)
c.704G>C (p.Cys235Ser)
 gnomAD v4
6g.73615404C>TCA3890364SLC17A5c.1022G>A (p.Cys341Tyr)
c.971G>A (p.Cys324Tyr)
c.824G>A (p.Cys275Tyr)
c.791G>A (p.Cys264Tyr)
c.1043G>A (p.Cys348Tyr)
c.935G>A (p.Cys312Tyr)
c.863G>A (p.Cys288Tyr)
c.1019G>A (p.Cys340Tyr)
c.704G>A (p.Cys235Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615405A=CA1638231820SLC17A5c.1021T= (p.Cys341=)
c.970T= (p.Cys324=)
c.823T= (p.Cys275=)
c.790T= (p.Cys264=)
c.1042T= (p.Cys348=)
c.934T= (p.Cys312=)
c.862T= (p.Cys288=)
c.1018T= (p.Cys340=)
c.703T= (p.Cys235=)
6g.73615405A>CCA364712342SLC17A5c.1021T>G (p.Cys341Gly)
c.970T>G (p.Cys324Gly)
c.823T>G (p.Cys275Gly)
c.790T>G (p.Cys264Gly)
c.1042T>G (p.Cys348Gly)
c.934T>G (p.Cys312Gly)
c.862T>G (p.Cys288Gly)
c.1018T>G (p.Cys340Gly)
c.703T>G (p.Cys235Gly)
6g.73615405A>GCA3890365SLC17A5c.1021T>C (p.Cys341Arg)
c.970T>C (p.Cys324Arg)
c.823T>C (p.Cys275Arg)
c.790T>C (p.Cys264Arg)
c.1042T>C (p.Cys348Arg)
c.934T>C (p.Cys312Arg)
c.862T>C (p.Cys288Arg)
c.1018T>C (p.Cys340Arg)
c.703T>C (p.Cys235Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615405A>TCA364712343SLC17A5c.1021T>A (p.Cys341Ser)
c.970T>A (p.Cys324Ser)
c.823T>A (p.Cys275Ser)
c.790T>A (p.Cys264Ser)
c.1042T>A (p.Cys348Ser)
c.934T>A (p.Cys312Ser)
c.862T>A (p.Cys288Ser)
c.1018T>A (p.Cys340Ser)
c.703T>A (p.Cys235Ser)
6g.73615406T>ACA364712344SLC17A5c.1020A>T (p.Leu340Phe)
c.969A>T (p.Leu323Phe)
c.822A>T (p.Leu274Phe)
c.789A>T (p.Leu263Phe)
c.1041A>T (p.Leu347Phe)
c.933A>T (p.Leu311Phe)
c.861A>T (p.Leu287Phe)
c.1017A>T (p.Leu339Phe)
c.702A>T (p.Leu234Phe)
6g.73615406T>CCA450910068SLC17A5c.1020A>G (p.Leu340=)
c.969A>G (p.Leu323=)
c.822A>G (p.Leu274=)
c.789A>G (p.Leu263=)
c.1041A>G (p.Leu347=)
c.933A>G (p.Leu311=)
c.861A>G (p.Leu287=)
c.1017A>G (p.Leu339=)
c.702A>G (p.Leu234=)
6g.73615406T>GCA364712345SLC17A5c.1020A>C (p.Leu340Phe)
c.969A>C (p.Leu323Phe)
c.822A>C (p.Leu274Phe)
c.789A>C (p.Leu263Phe)
c.1041A>C (p.Leu347Phe)
c.933A>C (p.Leu311Phe)
c.861A>C (p.Leu287Phe)
c.1017A>C (p.Leu339Phe)
c.702A>C (p.Leu234Phe)
6g.73615407A=CA1638231821SLC17A5c.1019T= (p.Leu340=)
c.968T= (p.Leu323=)
c.821T= (p.Leu274=)
c.788T= (p.Leu263=)
c.1040T= (p.Leu347=)
c.932T= (p.Leu311=)
c.860T= (p.Leu287=)
c.1016T= (p.Leu339=)
c.701T= (p.Leu234=)
6g.73615407A>CCA364712346SLC17A5c.1019T>G (p.Leu340Ter)
c.968T>G (p.Leu323Ter)
c.821T>G (p.Leu274Ter)
c.788T>G (p.Leu263Ter)
c.1040T>G (p.Leu347Ter)
c.932T>G (p.Leu311Ter)
c.860T>G (p.Leu287Ter)
c.1016T>G (p.Leu339Ter)
c.701T>G (p.Leu234Ter)
6g.73615407A>GCA364712347SLC17A5c.1019T>C (p.Leu340Ser)
c.968T>C (p.Leu323Ser)
c.821T>C (p.Leu274Ser)
c.788T>C (p.Leu263Ser)
c.1040T>C (p.Leu347Ser)
c.932T>C (p.Leu311Ser)
c.860T>C (p.Leu287Ser)
c.1016T>C (p.Leu339Ser)
c.701T>C (p.Leu234Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73615407A>TCA364712348SLC17A5c.1019T>A (p.Leu340Ter)
c.968T>A (p.Leu323Ter)
c.821T>A (p.Leu274Ter)
c.788T>A (p.Leu263Ter)
c.1040T>A (p.Leu347Ter)
c.932T>A (p.Leu311Ter)
c.860T>A (p.Leu287Ter)
c.1016T>A (p.Leu339Ter)
c.701T>A (p.Leu234Ter)
6g.73615408dupCA2697553542SLC17A5c.1019dup (p.Leu340PhefsTer11)
c.968dup (p.Leu323PhefsTer11)
c.821dup (p.Leu274PhefsTer11)
c.788dup (p.Leu263PhefsTer11)
c.1040dup (p.Leu347PhefsTer11)
c.932dup (p.Leu311PhefsTer11)
c.860dup (p.Leu287PhefsTer11)
c.1016dup (p.Leu339PhefsTer11)
c.701dup (p.Leu234PhefsTer11)
 ClinVar
6g.73615409_73615412delCA2679403761SLC17A5c.1016_1019del (p.Trp339TyrfsTer3)
c.965_968del (p.Trp322TyrfsTer3)
c.818_821del (p.Trp273TyrfsTer3)
c.785_788del (p.Trp262TyrfsTer3)
c.1037_1040del (p.Trp346TyrfsTer3)
c.929_932del (p.Trp310TyrfsTer3)
c.857_860del (p.Trp286TyrfsTer3)
c.1013_1016del (p.Trp338TyrfsTer3)
c.698_701del (p.Trp233TyrfsTer3)
 gnomAD v4
6g.73615408A=CA1638231822SLC17A5c.1018T= (p.Leu340=)
c.967T= (p.Leu323=)
c.820T= (p.Leu274=)
c.787T= (p.Leu263=)
c.1039T= (p.Leu347=)
c.931T= (p.Leu311=)
c.859T= (p.Leu287=)
c.1015T= (p.Leu339=)
c.700T= (p.Leu234=)
6g.73615408A>CCA364712349SLC17A5c.1018T>G (p.Leu340Val)
c.967T>G (p.Leu323Val)
c.820T>G (p.Leu274Val)
c.787T>G (p.Leu263Val)
c.1039T>G (p.Leu347Val)
c.931T>G (p.Leu311Val)
c.859T>G (p.Leu287Val)
c.1015T>G (p.Leu339Val)
c.700T>G (p.Leu234Val)
6g.73615408A>GCA450910069SLC17A5c.1018T>C (p.Leu340=)
c.967T>C (p.Leu323=)
c.820T>C (p.Leu274=)
c.787T>C (p.Leu263=)
c.1039T>C (p.Leu347=)
c.931T>C (p.Leu311=)
c.859T>C (p.Leu287=)
c.1015T>C (p.Leu339=)
c.700T>C (p.Leu234=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73615408A>TCA364712350SLC17A5c.1018T>A (p.Leu340Ile)
c.967T>A (p.Leu323Ile)
c.820T>A (p.Leu274Ile)
c.787T>A (p.Leu263Ile)
c.1039T>A (p.Leu347Ile)
c.931T>A (p.Leu311Ile)
c.859T>A (p.Leu287Ile)
c.1015T>A (p.Leu339Ile)
c.700T>A (p.Leu234Ile)
6g.73615409C>ACA364712351SLC17A5c.1017G>T (p.Trp339Cys)
c.966G>T (p.Trp322Cys)
c.819G>T (p.Trp273Cys)
c.786G>T (p.Trp262Cys)
c.1038G>T (p.Trp346Cys)
c.930G>T (p.Trp310Cys)
c.858G>T (p.Trp286Cys)
c.1014G>T (p.Trp338Cys)
c.699G>T (p.Trp233Cys)
6g.73615409C>GCA364712352SLC17A5c.1017G>C (p.Trp339Cys)
c.966G>C (p.Trp322Cys)
c.819G>C (p.Trp273Cys)
c.786G>C (p.Trp262Cys)
c.1038G>C (p.Trp346Cys)
c.930G>C (p.Trp310Cys)
c.858G>C (p.Trp286Cys)
c.1014G>C (p.Trp338Cys)
c.699G>C (p.Trp233Cys)
6g.73615409C>TCA364712353SLC17A5c.1017G>A (p.Trp339Ter)
c.966G>A (p.Trp322Ter)
c.819G>A (p.Trp273Ter)
c.786G>A (p.Trp262Ter)
c.1038G>A (p.Trp346Ter)
c.930G>A (p.Trp310Ter)
c.858G>A (p.Trp286Ter)
c.1014G>A (p.Trp338Ter)
c.699G>A (p.Trp233Ter)
 gnomAD v4
6g.73615410C>ACA364712354SLC17A5c.1016G>T (p.Trp339Leu)
c.965G>T (p.Trp322Leu)
c.818G>T (p.Trp273Leu)
c.785G>T (p.Trp262Leu)
c.1037G>T (p.Trp346Leu)
c.929G>T (p.Trp310Leu)
c.857G>T (p.Trp286Leu)
c.1013G>T (p.Trp338Leu)
c.698G>T (p.Trp233Leu)
6g.73615410C=CA1638231823SLC17A5c.1016G= (p.Trp339=)
c.965G= (p.Trp322=)
c.818G= (p.Trp273=)
c.785G= (p.Trp262=)
c.1037G= (p.Trp346=)
c.929G= (p.Trp310=)
c.857G= (p.Trp286=)
c.1013G= (p.Trp338=)
c.698G= (p.Trp233=)
6g.73615410C>GCA364712355SLC17A5c.1016G>C (p.Trp339Ser)
c.965G>C (p.Trp322Ser)
c.818G>C (p.Trp273Ser)
c.785G>C (p.Trp262Ser)
c.1037G>C (p.Trp346Ser)
c.929G>C (p.Trp310Ser)
c.857G>C (p.Trp286Ser)
c.1013G>C (p.Trp338Ser)
c.698G>C (p.Trp233Ser)
6g.73615410C>TCA16041080SLC17A5c.1016G>A (p.Trp339Ter)
c.965G>A (p.Trp322Ter)
c.818G>A (p.Trp273Ter)
c.785G>A (p.Trp262Ter)
c.1037G>A (p.Trp346Ter)
c.929G>A (p.Trp310Ter)
c.857G>A (p.Trp286Ter)
c.1013G>A (p.Trp338Ter)
c.698G>A (p.Trp233Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched