Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
6g.73615411A>CCA364712356SLC17A5c.1015T>G (p.Trp339Gly)
c.964T>G (p.Trp322Gly)
c.817T>G (p.Trp273Gly)
c.784T>G (p.Trp262Gly)
c.1036T>G (p.Trp346Gly)
c.928T>G (p.Trp310Gly)
c.856T>G (p.Trp286Gly)
c.1012T>G (p.Trp338Gly)
c.697T>G (p.Trp233Gly)
6g.73615411A>GCA364712357SLC17A5c.1015T>C (p.Trp339Arg)
c.964T>C (p.Trp322Arg)
c.817T>C (p.Trp273Arg)
c.784T>C (p.Trp262Arg)
c.1036T>C (p.Trp346Arg)
c.928T>C (p.Trp310Arg)
c.856T>C (p.Trp286Arg)
c.1012T>C (p.Trp338Arg)
c.697T>C (p.Trp233Arg)
6g.73615411A>TCA364712358SLC17A5c.1015T>A (p.Trp339Arg)
c.964T>A (p.Trp322Arg)
c.817T>A (p.Trp273Arg)
c.784T>A (p.Trp262Arg)
c.1036T>A (p.Trp346Arg)
c.928T>A (p.Trp310Arg)
c.856T>A (p.Trp286Arg)
c.1012T>A (p.Trp338Arg)
c.697T>A (p.Trp233Arg)
6g.73615412A>CCA450910070SLC17A5c.1014T>G (p.Ser338=)
c.963T>G (p.Ser321=)
c.816T>G (p.Ser272=)
c.783T>G (p.Ser261=)
c.1035T>G (p.Ser345=)
c.927T>G (p.Ser309=)
c.855T>G (p.Ser285=)
c.1011T>G (p.Ser337=)
c.696T>G (p.Ser232=)
6g.73615412A>GCA450910071SLC17A5c.1014T>C (p.Ser338=)
c.963T>C (p.Ser321=)
c.816T>C (p.Ser272=)
c.783T>C (p.Ser261=)
c.1035T>C (p.Ser345=)
c.927T>C (p.Ser309=)
c.855T>C (p.Ser285=)
c.1011T>C (p.Ser337=)
c.696T>C (p.Ser232=)
6g.73615412A>TCA450910072SLC17A5c.1014T>A (p.Ser338=)
c.963T>A (p.Ser321=)
c.816T>A (p.Ser272=)
c.783T>A (p.Ser261=)
c.1035T>A (p.Ser345=)
c.927T>A (p.Ser309=)
c.855T>A (p.Ser285=)
c.1011T>A (p.Ser337=)
c.696T>A (p.Ser232=)
6g.73615413G>ACA364712359SLC17A5c.1013C>T (p.Ser338Phe)
c.962C>T (p.Ser321Phe)
c.815C>T (p.Ser272Phe)
c.782C>T (p.Ser261Phe)
c.1034C>T (p.Ser345Phe)
c.926C>T (p.Ser309Phe)
c.854C>T (p.Ser285Phe)
c.1010C>T (p.Ser337Phe)
c.695C>T (p.Ser232Phe)
6g.73615413G>CCA364712360SLC17A5c.1013C>G (p.Ser338Cys)
c.962C>G (p.Ser321Cys)
c.815C>G (p.Ser272Cys)
c.782C>G (p.Ser261Cys)
c.1034C>G (p.Ser345Cys)
c.926C>G (p.Ser309Cys)
c.854C>G (p.Ser285Cys)
c.1010C>G (p.Ser337Cys)
c.695C>G (p.Ser232Cys)
6g.73615413G>TCA364712361SLC17A5c.1013C>A (p.Ser338Tyr)
c.962C>A (p.Ser321Tyr)
c.815C>A (p.Ser272Tyr)
c.782C>A (p.Ser261Tyr)
c.1034C>A (p.Ser345Tyr)
c.926C>A (p.Ser309Tyr)
c.854C>A (p.Ser285Tyr)
c.1010C>A (p.Ser337Tyr)
c.695C>A (p.Ser232Tyr)
6g.73615414A>CCA364712364SLC17A5c.1012T>G (p.Ser338Ala)
c.961T>G (p.Ser321Ala)
c.814T>G (p.Ser272Ala)
c.781T>G (p.Ser261Ala)
c.1033T>G (p.Ser345Ala)
c.925T>G (p.Ser309Ala)
c.853T>G (p.Ser285Ala)
c.1009T>G (p.Ser337Ala)
c.694T>G (p.Ser232Ala)
6g.73615414A>GCA364712363SLC17A5c.1012T>C (p.Ser338Pro)
c.961T>C (p.Ser321Pro)
c.814T>C (p.Ser272Pro)
c.781T>C (p.Ser261Pro)
c.1033T>C (p.Ser345Pro)
c.925T>C (p.Ser309Pro)
c.853T>C (p.Ser285Pro)
c.1009T>C (p.Ser337Pro)
c.694T>C (p.Ser232Pro)
6g.73615414A>TCA364712362SLC17A5c.1012T>A (p.Ser338Thr)
c.961T>A (p.Ser321Thr)
c.814T>A (p.Ser272Thr)
c.781T>A (p.Ser261Thr)
c.1033T>A (p.Ser345Thr)
c.925T>A (p.Ser309Thr)
c.853T>A (p.Ser285Thr)
c.1009T>A (p.Ser337Thr)
c.694T>A (p.Ser232Thr)
6g.73615415G>ACA140958567SLC17A5c.1011C>T (p.Gly337=)
c.960C>T (p.Gly320=)
c.813C>T (p.Gly271=)
c.780C>T (p.Gly260=)
c.1032C>T (p.Gly344=)
c.924C>T (p.Gly308=)
c.852C>T (p.Gly284=)
c.1008C>T (p.Gly336=)
c.693C>T (p.Gly231=)
 dbSNP gnomAD v4
6g.73615415G>CCA450910073SLC17A5c.1011C>G (p.Gly337=)
c.960C>G (p.Gly320=)
c.813C>G (p.Gly271=)
c.780C>G (p.Gly260=)
c.1032C>G (p.Gly344=)
c.924C>G (p.Gly308=)
c.852C>G (p.Gly284=)
c.1008C>G (p.Gly336=)
c.693C>G (p.Gly231=)
6g.73615415G=CA1638231824SLC17A5c.1011C= (p.Gly337=)
c.960C= (p.Gly320=)
c.813C= (p.Gly271=)
c.780C= (p.Gly260=)
c.1032C= (p.Gly344=)
c.924C= (p.Gly308=)
c.852C= (p.Gly284=)
c.1008C= (p.Gly336=)
c.693C= (p.Gly231=)
6g.73615415G>TCA450910074SLC17A5c.1011C>A (p.Gly337=)
c.960C>A (p.Gly320=)
c.813C>A (p.Gly271=)
c.780C>A (p.Gly260=)
c.1032C>A (p.Gly344=)
c.924C>A (p.Gly308=)
c.852C>A (p.Gly284=)
c.1008C>A (p.Gly336=)
c.693C>A (p.Gly231=)
6g.73615416C>ACA364712367SLC17A5c.1010G>T (p.Gly337Val)
c.959G>T (p.Gly320Val)
c.812G>T (p.Gly271Val)
c.779G>T (p.Gly260Val)
c.1031G>T (p.Gly344Val)
c.923G>T (p.Gly308Val)
c.851G>T (p.Gly284Val)
c.1007G>T (p.Gly336Val)
c.692G>T (p.Gly231Val)
 gnomAD v4
6g.73615416C>GCA364712365SLC17A5c.1010G>C (p.Gly337Ala)
c.959G>C (p.Gly320Ala)
c.812G>C (p.Gly271Ala)
c.779G>C (p.Gly260Ala)
c.1031G>C (p.Gly344Ala)
c.923G>C (p.Gly308Ala)
c.851G>C (p.Gly284Ala)
c.1007G>C (p.Gly336Ala)
c.692G>C (p.Gly231Ala)
6g.73615416C>TCA364712366SLC17A5c.1010G>A (p.Gly337Asp)
c.959G>A (p.Gly320Asp)
c.812G>A (p.Gly271Asp)
c.779G>A (p.Gly260Asp)
c.1031G>A (p.Gly344Asp)
c.923G>A (p.Gly308Asp)
c.851G>A (p.Gly284Asp)
c.1007G>A (p.Gly336Asp)
c.692G>A (p.Gly231Asp)
6g.73615417C>ACA364712368SLC17A5c.1009G>T (p.Gly337Cys)
c.958G>T (p.Gly320Cys)
c.811G>T (p.Gly271Cys)
c.778G>T (p.Gly260Cys)
c.1030G>T (p.Gly344Cys)
c.922G>T (p.Gly308Cys)
c.850G>T (p.Gly284Cys)
c.1006G>T (p.Gly336Cys)
c.691G>T (p.Gly231Cys)
6g.73615417C>GCA364712369SLC17A5c.1009G>C (p.Gly337Arg)
c.958G>C (p.Gly320Arg)
c.811G>C (p.Gly271Arg)
c.778G>C (p.Gly260Arg)
c.1030G>C (p.Gly344Arg)
c.922G>C (p.Gly308Arg)
c.850G>C (p.Gly284Arg)
c.1006G>C (p.Gly336Arg)
c.691G>C (p.Gly231Arg)
6g.73615417C>TCA364712370SLC17A5c.1009G>A (p.Gly337Ser)
c.958G>A (p.Gly320Ser)
c.811G>A (p.Gly271Ser)
c.778G>A (p.Gly260Ser)
c.1030G>A (p.Gly344Ser)
c.922G>A (p.Gly308Ser)
c.850G>A (p.Gly284Ser)
c.1006G>A (p.Gly336Ser)
c.691G>A (p.Gly231Ser)
6g.73615417_73615419delinsCTACA1638231825SLC17A5c.1007_1009delinsTAG (p.Leu336=)
c.956_958delinsTAG (p.Leu319=)
c.809_811delinsTAG (p.Leu270=)
c.776_778delinsTAG (p.Leu259=)
c.1028_1030delinsTAG (p.Leu343=)
c.920_922delinsTAG (p.Leu307=)
c.848_850delinsTAG (p.Leu283=)
c.1004_1006delinsTAG (p.Leu335=)
c.689_691delinsTAG (p.Leu230=)
6g.73615418T>ACA364712371SLC17A5c.1008A>T (p.Leu336Phe)
c.957A>T (p.Leu319Phe)
c.810A>T (p.Leu270Phe)
c.777A>T (p.Leu259Phe)
c.1029A>T (p.Leu343Phe)
c.921A>T (p.Leu307Phe)
c.849A>T (p.Leu283Phe)
c.1005A>T (p.Leu335Phe)
c.690A>T (p.Leu230Phe)
6g.73615418T>CCA450910075SLC17A5c.1008A>G (p.Leu336=)
c.957A>G (p.Leu319=)
c.810A>G (p.Leu270=)
c.777A>G (p.Leu259=)
c.1029A>G (p.Leu343=)
c.921A>G (p.Leu307=)
c.849A>G (p.Leu283=)
c.1005A>G (p.Leu335=)
c.690A>G (p.Leu230=)
 ClinVar
6g.73615418T>GCA364712372SLC17A5c.1008A>C (p.Leu336Phe)
c.957A>C (p.Leu319Phe)
c.810A>C (p.Leu270Phe)
c.777A>C (p.Leu259Phe)
c.1029A>C (p.Leu343Phe)
c.921A>C (p.Leu307Phe)
c.849A>C (p.Leu283Phe)
c.1005A>C (p.Leu335Phe)
c.690A>C (p.Leu230Phe)
6g.73615418_73615419delCA263919SLC17A5c.1007_1008del (p.Leu336TrpfsTer14)
c.956_957del (p.Leu319TrpfsTer14)
c.809_810del (p.Leu270TrpfsTer14)
c.776_777del (p.Leu259TrpfsTer14)
c.1028_1029del (p.Leu343TrpfsTer14)
c.920_921del (p.Leu307TrpfsTer14)
c.848_849del (p.Leu283TrpfsTer14)
c.1004_1005del (p.Leu335TrpfsTer14)
c.689_690del (p.Leu230TrpfsTer14)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73615419A>CCA364712373SLC17A5c.1007T>G (p.Leu336Ter)
c.956T>G (p.Leu319Ter)
c.809T>G (p.Leu270Ter)
c.776T>G (p.Leu259Ter)
c.1028T>G (p.Leu343Ter)
c.920T>G (p.Leu307Ter)
c.848T>G (p.Leu283Ter)
c.1004T>G (p.Leu335Ter)
c.689T>G (p.Leu230Ter)
6g.73615419A>GCA364712374SLC17A5c.1007T>C (p.Leu336Ser)
c.956T>C (p.Leu319Ser)
c.809T>C (p.Leu270Ser)
c.776T>C (p.Leu259Ser)
c.1028T>C (p.Leu343Ser)
c.920T>C (p.Leu307Ser)
c.848T>C (p.Leu283Ser)
c.1004T>C (p.Leu335Ser)
c.689T>C (p.Leu230Ser)
6g.73615419A>TCA364712375SLC17A5c.1007T>A (p.Leu336Ter)
c.956T>A (p.Leu319Ter)
c.809T>A (p.Leu270Ter)
c.776T>A (p.Leu259Ter)
c.1028T>A (p.Leu343Ter)
c.920T>A (p.Leu307Ter)
c.848T>A (p.Leu283Ter)
c.1004T>A (p.Leu335Ter)
c.689T>A (p.Leu230Ter)
6g.73615420A>CCA364712377SLC17A5c.1006T>G (p.Leu336Val)
c.955T>G (p.Leu319Val)
c.808T>G (p.Leu270Val)
c.775T>G (p.Leu259Val)
c.1027T>G (p.Leu343Val)
c.919T>G (p.Leu307Val)
c.847T>G (p.Leu283Val)
c.1003T>G (p.Leu335Val)
c.688T>G (p.Leu230Val)
6g.73615420A>GCA450910076SLC17A5c.1006T>C (p.Leu336=)
c.955T>C (p.Leu319=)
c.808T>C (p.Leu270=)
c.775T>C (p.Leu259=)
c.1027T>C (p.Leu343=)
c.919T>C (p.Leu307=)
c.847T>C (p.Leu283=)
c.1003T>C (p.Leu335=)
c.688T>C (p.Leu230=)
6g.73615420A>TCA364712376SLC17A5c.1006T>A (p.Leu336Ile)
c.955T>A (p.Leu319Ile)
c.808T>A (p.Leu270Ile)
c.775T>A (p.Leu259Ile)
c.1027T>A (p.Leu343Ile)
c.919T>A (p.Leu307Ile)
c.847T>A (p.Leu283Ile)
c.1003T>A (p.Leu335Ile)
c.688T>A (p.Leu230Ile)
6g.73615421A>CCA364712378SLC17A5c.1005T>G (p.Tyr335Ter)
c.954T>G (p.Tyr318Ter)
c.807T>G (p.Tyr269Ter)
c.774T>G (p.Tyr258Ter)
c.1026T>G (p.Tyr342Ter)
c.918T>G (p.Tyr306Ter)
c.846T>G (p.Tyr282Ter)
c.1002T>G (p.Tyr334Ter)
c.687T>G (p.Tyr229Ter)
6g.73615421A>GCA450910077SLC17A5c.1005T>C (p.Tyr335=)
c.954T>C (p.Tyr318=)
c.807T>C (p.Tyr269=)
c.774T>C (p.Tyr258=)
c.1026T>C (p.Tyr342=)
c.918T>C (p.Tyr306=)
c.846T>C (p.Tyr282=)
c.1002T>C (p.Tyr334=)
c.687T>C (p.Tyr229=)
6g.73615421A>TCA364712379SLC17A5c.1005T>A (p.Tyr335Ter)
c.954T>A (p.Tyr318Ter)
c.807T>A (p.Tyr269Ter)
c.774T>A (p.Tyr258Ter)
c.1026T>A (p.Tyr342Ter)
c.918T>A (p.Tyr306Ter)
c.846T>A (p.Tyr282Ter)
c.1002T>A (p.Tyr334Ter)
c.687T>A (p.Tyr229Ter)
6g.73615422T>ACA364712380SLC17A5c.1004A>T (p.Tyr335Phe)
c.953A>T (p.Tyr318Phe)
c.806A>T (p.Tyr269Phe)
c.773A>T (p.Tyr258Phe)
c.1025A>T (p.Tyr342Phe)
c.917A>T (p.Tyr306Phe)
c.845A>T (p.Tyr282Phe)
c.1001A>T (p.Tyr334Phe)
c.686A>T (p.Tyr229Phe)
6g.73615422T>CCA364712381SLC17A5c.1004A>G (p.Tyr335Cys)
c.953A>G (p.Tyr318Cys)
c.806A>G (p.Tyr269Cys)
c.773A>G (p.Tyr258Cys)
c.1025A>G (p.Tyr342Cys)
c.917A>G (p.Tyr306Cys)
c.845A>G (p.Tyr282Cys)
c.1001A>G (p.Tyr334Cys)
c.686A>G (p.Tyr229Cys)
 gnomAD v4
6g.73615422T>GCA364712382SLC17A5c.1004A>C (p.Tyr335Ser)
c.953A>C (p.Tyr318Ser)
c.806A>C (p.Tyr269Ser)
c.773A>C (p.Tyr258Ser)
c.1025A>C (p.Tyr342Ser)
c.917A>C (p.Tyr306Ser)
c.845A>C (p.Tyr282Ser)
c.1001A>C (p.Tyr334Ser)
c.686A>C (p.Tyr229Ser)
6g.73615423A>CCA364712383SLC17A5c.1003T>G (p.Tyr335Asp)
c.952T>G (p.Tyr318Asp)
c.805T>G (p.Tyr269Asp)
c.772T>G (p.Tyr258Asp)
c.1024T>G (p.Tyr342Asp)
c.916T>G (p.Tyr306Asp)
c.844T>G (p.Tyr282Asp)
c.1000T>G (p.Tyr334Asp)
c.685T>G (p.Tyr229Asp)
6g.73615423A>GCA364712384SLC17A5c.1003T>C (p.Tyr335His)
c.952T>C (p.Tyr318His)
c.805T>C (p.Tyr269His)
c.772T>C (p.Tyr258His)
c.1024T>C (p.Tyr342His)
c.916T>C (p.Tyr306His)
c.844T>C (p.Tyr282His)
c.1000T>C (p.Tyr334His)
c.685T>C (p.Tyr229His)
 gnomAD v4
6g.73615423A>TCA364712385SLC17A5c.1003T>A (p.Tyr335Asn)
c.952T>A (p.Tyr318Asn)
c.805T>A (p.Tyr269Asn)
c.772T>A (p.Tyr258Asn)
c.1024T>A (p.Tyr342Asn)
c.916T>A (p.Tyr306Asn)
c.844T>A (p.Tyr282Asn)
c.1000T>A (p.Tyr334Asn)
c.685T>A (p.Tyr229Asn)
6g.73615424A=CA1638231826SLC17A5c.1002T= (p.Pro334=)
c.951T= (p.Pro317=)
c.804T= (p.Pro268=)
c.771T= (p.Pro257=)
c.1023T= (p.Pro341=)
c.915T= (p.Pro305=)
c.843T= (p.Pro281=)
c.999T= (p.Pro333=)
c.684T= (p.Pro228=)
6g.73615424A>CCA450910078SLC17A5c.1002T>G (p.Pro334=)
c.951T>G (p.Pro317=)
c.804T>G (p.Pro268=)
c.771T>G (p.Pro257=)
c.1023T>G (p.Pro341=)
c.915T>G (p.Pro305=)
c.843T>G (p.Pro281=)
c.999T>G (p.Pro333=)
c.684T>G (p.Pro228=)
6g.73615424A>GCA3890366SLC17A5c.1002T>C (p.Pro334=)
c.951T>C (p.Pro317=)
c.804T>C (p.Pro268=)
c.771T>C (p.Pro257=)
c.1023T>C (p.Pro341=)
c.915T>C (p.Pro305=)
c.843T>C (p.Pro281=)
c.999T>C (p.Pro333=)
c.684T>C (p.Pro228=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615424A>TCA450910079SLC17A5c.1002T>A (p.Pro334=)
c.951T>A (p.Pro317=)
c.804T>A (p.Pro268=)
c.771T>A (p.Pro257=)
c.1023T>A (p.Pro341=)
c.915T>A (p.Pro305=)
c.843T>A (p.Pro281=)
c.999T>A (p.Pro333=)
c.684T>A (p.Pro228=)
6g.73615425G>ACA364712386SLC17A5c.1001C>T (p.Pro334Leu)
c.950C>T (p.Pro317Leu)
c.803C>T (p.Pro268Leu)
c.770C>T (p.Pro257Leu)
c.1022C>T (p.Pro341Leu)
c.914C>T (p.Pro305Leu)
c.842C>T (p.Pro281Leu)
c.998C>T (p.Pro333Leu)
c.683C>T (p.Pro228Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.73615425G>CCA253539SLC17A5c.1001C>G (p.Pro334Arg)
c.950C>G (p.Pro317Arg)
c.803C>G (p.Pro268Arg)
c.770C>G (p.Pro257Arg)
c.1022C>G (p.Pro341Arg)
c.914C>G (p.Pro305Arg)
c.842C>G (p.Pro281Arg)
c.998C>G (p.Pro333Arg)
c.683C>G (p.Pro228Arg)
 ClinVar dbSNP
6g.73615425G=CA1638231827SLC17A5c.1001C= (p.Pro334=)
c.950C= (p.Pro317=)
c.803C= (p.Pro268=)
c.770C= (p.Pro257=)
c.1022C= (p.Pro341=)
c.914C= (p.Pro305=)
c.842C= (p.Pro281=)
c.998C= (p.Pro333=)
c.683C= (p.Pro228=)
6g.73615425G>TCA364712387SLC17A5c.1001C>A (p.Pro334His)
c.950C>A (p.Pro317His)
c.803C>A (p.Pro268His)
c.770C>A (p.Pro257His)
c.1022C>A (p.Pro341His)
c.914C>A (p.Pro305His)
c.842C>A (p.Pro281His)
c.998C>A (p.Pro333His)
c.683C>A (p.Pro228His)
6g.73615426G>ACA364712389SLC17A5c.1000C>T (p.Pro334Ser)
c.949C>T (p.Pro317Ser)
c.802C>T (p.Pro268Ser)
c.769C>T (p.Pro257Ser)
c.1021C>T (p.Pro341Ser)
c.913C>T (p.Pro305Ser)
c.841C>T (p.Pro281Ser)
c.997C>T (p.Pro333Ser)
c.682C>T (p.Pro228Ser)
 COSMIC
6g.73615426G>CCA364712390SLC17A5c.1000C>G (p.Pro334Ala)
c.949C>G (p.Pro317Ala)
c.802C>G (p.Pro268Ala)
c.769C>G (p.Pro257Ala)
c.1021C>G (p.Pro341Ala)
c.913C>G (p.Pro305Ala)
c.841C>G (p.Pro281Ala)
c.997C>G (p.Pro333Ala)
c.682C>G (p.Pro228Ala)
6g.73615426G=CA1638231828SLC17A5c.1000C= (p.Pro334=)
c.949C= (p.Pro317=)
c.802C= (p.Pro268=)
c.769C= (p.Pro257=)
c.1021C= (p.Pro341=)
c.913C= (p.Pro305=)
c.841C= (p.Pro281=)
c.997C= (p.Pro333=)
c.682C= (p.Pro228=)
6g.73615426G>TCA364712388SLC17A5c.1000C>A (p.Pro334Thr)
c.949C>A (p.Pro317Thr)
c.802C>A (p.Pro268Thr)
c.769C>A (p.Pro257Thr)
c.1021C>A (p.Pro341Thr)
c.913C>A (p.Pro305Thr)
c.841C>A (p.Pro281Thr)
c.997C>A (p.Pro333Thr)
c.682C>A (p.Pro228Thr)
 dbSNP
6g.73615427C>ACA364712391SLC17A5c.999G>T (p.Leu333Phe)
c.948G>T (p.Leu316Phe)
c.801G>T (p.Leu267Phe)
c.768G>T (p.Leu256Phe)
c.1020G>T (p.Leu340Phe)
c.912G>T (p.Leu304Phe)
c.840G>T (p.Leu280Phe)
c.996G>T (p.Leu332Phe)
c.681G>T (p.Leu227Phe)
6g.73615427C=CA1638231830SLC17A5c.999G= (p.Leu333=)
c.948G= (p.Leu316=)
c.801G= (p.Leu267=)
c.768G= (p.Leu256=)
c.1020G= (p.Leu340=)
c.912G= (p.Leu304=)
c.840G= (p.Leu280=)
c.996G= (p.Leu332=)
c.681G= (p.Leu227=)
6g.73615427C>GCA364712392SLC17A5c.999G>C (p.Leu333Phe)
c.948G>C (p.Leu316Phe)
c.801G>C (p.Leu267Phe)
c.768G>C (p.Leu256Phe)
c.1020G>C (p.Leu340Phe)
c.912G>C (p.Leu304Phe)
c.840G>C (p.Leu280Phe)
c.996G>C (p.Leu332Phe)
c.681G>C (p.Leu227Phe)
6g.73615427C>TCA450910080SLC17A5c.999G>A (p.Leu333=)
c.948G>A (p.Leu316=)
c.801G>A (p.Leu267=)
c.768G>A (p.Leu256=)
c.1020G>A (p.Leu340=)
c.912G>A (p.Leu304=)
c.840G>A (p.Leu280=)
c.996G>A (p.Leu332=)
c.681G>A (p.Leu227=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73615427_73615428delinsCACA1638231829SLC17A5c.998_999delinsTG (p.Leu333=)
c.947_948delinsTG (p.Leu316=)
c.800_801delinsTG (p.Leu267=)
c.767_768delinsTG (p.Leu256=)
c.1019_1020delinsTG (p.Leu340=)
c.911_912delinsTG (p.Leu304=)
c.839_840delinsTG (p.Leu280=)
c.995_996delinsTG (p.Leu332=)
c.680_681delinsTG (p.Leu227=)
6g.73615428A>CCA364712393SLC17A5c.998T>G (p.Leu333Trp)
c.947T>G (p.Leu316Trp)
c.800T>G (p.Leu267Trp)
c.767T>G (p.Leu256Trp)
c.1019T>G (p.Leu340Trp)
c.911T>G (p.Leu304Trp)
c.839T>G (p.Leu280Trp)
c.995T>G (p.Leu332Trp)
c.680T>G (p.Leu227Trp)
6g.73615428A>GCA364712394SLC17A5c.998T>C (p.Leu333Ser)
c.947T>C (p.Leu316Ser)
c.800T>C (p.Leu267Ser)
c.767T>C (p.Leu256Ser)
c.1019T>C (p.Leu340Ser)
c.911T>C (p.Leu304Ser)
c.839T>C (p.Leu280Ser)
c.995T>C (p.Leu332Ser)
c.680T>C (p.Leu227Ser)
6g.73615428A>TCA364712395SLC17A5c.998T>A (p.Leu333Ter)
c.947T>A (p.Leu316Ter)
c.800T>A (p.Leu267Ter)
c.767T>A (p.Leu256Ter)
c.1019T>A (p.Leu340Ter)
c.911T>A (p.Leu304Ter)
c.839T>A (p.Leu280Ter)
c.995T>A (p.Leu332Ter)
c.680T>A (p.Leu227Ter)
6g.73615429delCA3890367SLC17A5c.998del (p.Leu333CysfsTer4)
c.947del (p.Leu316CysfsTer4)
c.800del (p.Leu267CysfsTer4)
c.767del (p.Leu256CysfsTer4)
c.1019del (p.Leu340CysfsTer4)
c.911del (p.Leu304CysfsTer4)
c.839del (p.Leu280CysfsTer4)
c.995del (p.Leu332CysfsTer4)
c.680del (p.Leu227CysfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615429A>CCA364712397SLC17A5c.997T>G (p.Leu333Val)
c.946T>G (p.Leu316Val)
c.799T>G (p.Leu267Val)
c.766T>G (p.Leu256Val)
c.1018T>G (p.Leu340Val)
c.910T>G (p.Leu304Val)
c.838T>G (p.Leu280Val)
c.994T>G (p.Leu332Val)
c.679T>G (p.Leu227Val)
6g.73615429A>GCA450910081SLC17A5c.997T>C (p.Leu333=)
c.946T>C (p.Leu316=)
c.799T>C (p.Leu267=)
c.766T>C (p.Leu256=)
c.1018T>C (p.Leu340=)
c.910T>C (p.Leu304=)
c.838T>C (p.Leu280=)
c.994T>C (p.Leu332=)
c.679T>C (p.Leu227=)
6g.73615429A>TCA364712396SLC17A5c.997T>A (p.Leu333Met)
c.946T>A (p.Leu316Met)
c.799T>A (p.Leu267Met)
c.766T>A (p.Leu256Met)
c.1018T>A (p.Leu340Met)
c.910T>A (p.Leu304Met)
c.838T>A (p.Leu280Met)
c.994T>A (p.Leu332Met)
c.679T>A (p.Leu227Met)
6g.73615430T>ACA450910084SLC17A5c.996A>T (p.Ser332=)
c.945A>T (p.Ser315=)
c.798A>T (p.Ser266=)
c.765A>T (p.Ser255=)
c.1017A>T (p.Ser339=)
c.909A>T (p.Ser303=)
c.837A>T (p.Ser279=)
c.993A>T (p.Ser331=)
c.678A>T (p.Ser226=)
6g.73615430T>CCA450910083SLC17A5c.996A>G (p.Ser332=)
c.945A>G (p.Ser315=)
c.798A>G (p.Ser266=)
c.765A>G (p.Ser255=)
c.1017A>G (p.Ser339=)
c.909A>G (p.Ser303=)
c.837A>G (p.Ser279=)
c.993A>G (p.Ser331=)
c.678A>G (p.Ser226=)
6g.73615430T>GCA450910082SLC17A5c.996A>C (p.Ser332=)
c.945A>C (p.Ser315=)
c.798A>C (p.Ser266=)
c.765A>C (p.Ser255=)
c.1017A>C (p.Ser339=)
c.909A>C (p.Ser303=)
c.837A>C (p.Ser279=)
c.993A>C (p.Ser331=)
c.678A>C (p.Ser226=)
6g.73615431G>ACA364712398SLC17A5c.995C>T (p.Ser332Leu)
c.944C>T (p.Ser315Leu)
c.797C>T (p.Ser266Leu)
c.764C>T (p.Ser255Leu)
c.1016C>T (p.Ser339Leu)
c.908C>T (p.Ser303Leu)
c.836C>T (p.Ser279Leu)
c.992C>T (p.Ser331Leu)
c.677C>T (p.Ser226Leu)
 COSMIC
6g.73615431G>CCA364712399SLC17A5c.995C>G (p.Ser332Ter)
c.944C>G (p.Ser315Ter)
c.797C>G (p.Ser266Ter)
c.764C>G (p.Ser255Ter)
c.1016C>G (p.Ser339Ter)
c.908C>G (p.Ser303Ter)
c.836C>G (p.Ser279Ter)
c.992C>G (p.Ser331Ter)
c.677C>G (p.Ser226Ter)
6g.73615431G>TCA364712400SLC17A5c.995C>A (p.Ser332Ter)
c.944C>A (p.Ser315Ter)
c.797C>A (p.Ser266Ter)
c.764C>A (p.Ser255Ter)
c.1016C>A (p.Ser339Ter)
c.908C>A (p.Ser303Ter)
c.836C>A (p.Ser279Ter)
c.992C>A (p.Ser331Ter)
c.677C>A (p.Ser226Ter)
6g.73615431_73615434delinsATCA2580075769SLC17A5c.992_995delinsAT (p.Ser331TyrfsTer19)
c.941_944delinsAT (p.Ser314TyrfsTer19)
c.794_797delinsAT (p.Ser265TyrfsTer19)
c.761_764delinsAT (p.Ser254TyrfsTer19)
c.1013_1016delinsAT (p.Ser338TyrfsTer19)
c.905_908delinsAT (p.Ser302TyrfsTer19)
c.833_836delinsAT (p.Ser278TyrfsTer19)
c.989_992delinsAT (p.Ser330TyrfsTer19)
c.674_677delinsAT (p.Ser225TyrfsTer19)
 ClinVar
6g.73615432A>CCA364712401SLC17A5c.994T>G (p.Ser332Ala)
c.943T>G (p.Ser315Ala)
c.796T>G (p.Ser266Ala)
c.763T>G (p.Ser255Ala)
c.1015T>G (p.Ser339Ala)
c.907T>G (p.Ser303Ala)
c.835T>G (p.Ser279Ala)
c.991T>G (p.Ser331Ala)
c.676T>G (p.Ser226Ala)
6g.73615432A>GCA364712402SLC17A5c.994T>C (p.Ser332Pro)
c.943T>C (p.Ser315Pro)
c.796T>C (p.Ser266Pro)
c.763T>C (p.Ser255Pro)
c.1015T>C (p.Ser339Pro)
c.907T>C (p.Ser303Pro)
c.835T>C (p.Ser279Pro)
c.991T>C (p.Ser331Pro)
c.676T>C (p.Ser226Pro)
6g.73615432A>TCA364712403SLC17A5c.994T>A (p.Ser332Thr)
c.943T>A (p.Ser315Thr)
c.796T>A (p.Ser266Thr)
c.763T>A (p.Ser255Thr)
c.1015T>A (p.Ser339Thr)
c.907T>A (p.Ser303Thr)
c.835T>A (p.Ser279Thr)
c.991T>A (p.Ser331Thr)
c.676T>A (p.Ser226Thr)
6g.73615433delCA2697553543SLC17A5c.994del (p.Ser332HisfsTer5)
c.943del (p.Ser315HisfsTer5)
c.796del (p.Ser266HisfsTer5)
c.763del (p.Ser255HisfsTer5)
c.1015del (p.Ser339HisfsTer5)
c.907del (p.Ser303HisfsTer5)
c.835del (p.Ser279HisfsTer5)
c.991del (p.Ser331HisfsTer5)
c.676del (p.Ser226HisfsTer5)
 ClinVar
6g.73615433A>CCA450910085SLC17A5c.993T>G (p.Ser331=)
c.942T>G (p.Ser314=)
c.795T>G (p.Ser265=)
c.762T>G (p.Ser254=)
c.1014T>G (p.Ser338=)
c.906T>G (p.Ser302=)
c.834T>G (p.Ser278=)
c.990T>G (p.Ser330=)
c.675T>G (p.Ser225=)
6g.73615433A>GCA450910086SLC17A5c.993T>C (p.Ser331=)
c.942T>C (p.Ser314=)
c.795T>C (p.Ser265=)
c.762T>C (p.Ser254=)
c.1014T>C (p.Ser338=)
c.906T>C (p.Ser302=)
c.834T>C (p.Ser278=)
c.990T>C (p.Ser330=)
c.675T>C (p.Ser225=)
 gnomAD v4
6g.73615433A>TCA450910087SLC17A5c.993T>A (p.Ser331=)
c.942T>A (p.Ser314=)
c.795T>A (p.Ser265=)
c.762T>A (p.Ser254=)
c.1014T>A (p.Ser338=)
c.906T>A (p.Ser302=)
c.834T>A (p.Ser278=)
c.990T>A (p.Ser330=)
c.675T>A (p.Ser225=)
6g.73615434G>ACA364712404SLC17A5c.992C>T (p.Ser331Phe)
c.941C>T (p.Ser314Phe)
c.794C>T (p.Ser265Phe)
c.761C>T (p.Ser254Phe)
c.1013C>T (p.Ser338Phe)
c.905C>T (p.Ser302Phe)
c.833C>T (p.Ser278Phe)
c.989C>T (p.Ser330Phe)
c.674C>T (p.Ser225Phe)
6g.73615434G>CCA364712406SLC17A5c.992C>G (p.Ser331Cys)
c.941C>G (p.Ser314Cys)
c.794C>G (p.Ser265Cys)
c.761C>G (p.Ser254Cys)
c.1013C>G (p.Ser338Cys)
c.905C>G (p.Ser302Cys)
c.833C>G (p.Ser278Cys)
c.989C>G (p.Ser330Cys)
c.674C>G (p.Ser225Cys)
 dbSNP
6g.73615434G=CA1638231831SLC17A5c.992C= (p.Ser331=)
c.941C= (p.Ser314=)
c.794C= (p.Ser265=)
c.761C= (p.Ser254=)
c.1013C= (p.Ser338=)
c.905C= (p.Ser302=)
c.833C= (p.Ser278=)
c.989C= (p.Ser330=)
c.674C= (p.Ser225=)
6g.73615434G>TCA364712405SLC17A5c.992C>A (p.Ser331Tyr)
c.941C>A (p.Ser314Tyr)
c.794C>A (p.Ser265Tyr)
c.761C>A (p.Ser254Tyr)
c.1013C>A (p.Ser338Tyr)
c.905C>A (p.Ser302Tyr)
c.833C>A (p.Ser278Tyr)
c.989C>A (p.Ser330Tyr)
c.674C>A (p.Ser225Tyr)
6g.73615435A=CA1638231832SLC17A5c.991T= (p.Ser331=)
c.940T= (p.Ser314=)
c.793T= (p.Ser265=)
c.760T= (p.Ser254=)
c.1012T= (p.Ser338=)
c.904T= (p.Ser302=)
c.832T= (p.Ser278=)
c.988T= (p.Ser330=)
c.673T= (p.Ser225=)
6g.73615435A>CCA364712407SLC17A5c.991T>G (p.Ser331Ala)
c.940T>G (p.Ser314Ala)
c.793T>G (p.Ser265Ala)
c.760T>G (p.Ser254Ala)
c.1012T>G (p.Ser338Ala)
c.904T>G (p.Ser302Ala)
c.832T>G (p.Ser278Ala)
c.988T>G (p.Ser330Ala)
c.673T>G (p.Ser225Ala)
6g.73615435A>GCA364712408SLC17A5c.991T>C (p.Ser331Pro)
c.940T>C (p.Ser314Pro)
c.793T>C (p.Ser265Pro)
c.760T>C (p.Ser254Pro)
c.1012T>C (p.Ser338Pro)
c.904T>C (p.Ser302Pro)
c.832T>C (p.Ser278Pro)
c.988T>C (p.Ser330Pro)
c.673T>C (p.Ser225Pro)
6g.73615435A>TCA364712409SLC17A5c.991T>A (p.Ser331Thr)
c.940T>A (p.Ser314Thr)
c.793T>A (p.Ser265Thr)
c.760T>A (p.Ser254Thr)
c.1012T>A (p.Ser338Thr)
c.904T>A (p.Ser302Thr)
c.832T>A (p.Ser278Thr)
c.988T>A (p.Ser330Thr)
c.673T>A (p.Ser225Thr)
6g.73615436T>ACA364712410SLC17A5c.990A>T (p.Leu330Phe)
c.939A>T (p.Leu313Phe)
c.792A>T (p.Leu264Phe)
c.759A>T (p.Leu253Phe)
c.1011A>T (p.Leu337Phe)
c.903A>T (p.Leu301Phe)
c.831A>T (p.Leu277Phe)
c.987A>T (p.Leu329Phe)
c.672A>T (p.Leu224Phe)
6g.73615436T>CCA140958576SLC17A5c.990A>G (p.Leu330=)
c.939A>G (p.Leu313=)
c.792A>G (p.Leu264=)
c.759A>G (p.Leu253=)
c.1011A>G (p.Leu337=)
c.903A>G (p.Leu301=)
c.831A>G (p.Leu277=)
c.987A>G (p.Leu329=)
c.672A>G (p.Leu224=)
 dbSNP gnomAD v4
6g.73615436T>GCA364712411SLC17A5c.990A>C (p.Leu330Phe)
c.939A>C (p.Leu313Phe)
c.792A>C (p.Leu264Phe)
c.759A>C (p.Leu253Phe)
c.1011A>C (p.Leu337Phe)
c.903A>C (p.Leu301Phe)
c.831A>C (p.Leu277Phe)
c.987A>C (p.Leu329Phe)
c.672A>C (p.Leu224Phe)
6g.73615436T=CA1638231833SLC17A5c.990A= (p.Leu330=)
c.939A= (p.Leu313=)
c.792A= (p.Leu264=)
c.759A= (p.Leu253=)
c.1011A= (p.Leu337=)
c.903A= (p.Leu301=)
c.831A= (p.Leu277=)
c.987A= (p.Leu329=)
c.672A= (p.Leu224=)
6g.73615436dupCA567681999SLC17A5c.990dup (p.Ser331IlefsTer20)
c.939dup (p.Ser314IlefsTer20)
c.792dup (p.Ser265IlefsTer20)
c.759dup (p.Ser254IlefsTer20)
c.1011dup (p.Ser338IlefsTer20)
c.903dup (p.Ser302IlefsTer20)
c.831dup (p.Ser278IlefsTer20)
c.987dup (p.Ser330IlefsTer20)
c.672dup (p.Ser225IlefsTer20)
 dbSNP gnomAD v2 gnomAD v4
6g.73615437A>CCA364712412SLC17A5c.989T>G (p.Leu330Ter)
c.938T>G (p.Leu313Ter)
c.791T>G (p.Leu264Ter)
c.758T>G (p.Leu253Ter)
c.1010T>G (p.Leu337Ter)
c.902T>G (p.Leu301Ter)
c.830T>G (p.Leu277Ter)
c.986T>G (p.Leu329Ter)
c.671T>G (p.Leu224Ter)
6g.73615437A>GCA364712413SLC17A5c.989T>C (p.Leu330Ser)
c.938T>C (p.Leu313Ser)
c.791T>C (p.Leu264Ser)
c.758T>C (p.Leu253Ser)
c.1010T>C (p.Leu337Ser)
c.902T>C (p.Leu301Ser)
c.830T>C (p.Leu277Ser)
c.986T>C (p.Leu329Ser)
c.671T>C (p.Leu224Ser)
6g.73615437A>TCA364712414SLC17A5c.989T>A (p.Leu330Ter)
c.938T>A (p.Leu313Ter)
c.791T>A (p.Leu264Ter)
c.758T>A (p.Leu253Ter)
c.1010T>A (p.Leu337Ter)
c.902T>A (p.Leu301Ter)
c.830T>A (p.Leu277Ter)
c.986T>A (p.Leu329Ter)
c.671T>A (p.Leu224Ter)
6g.73615438A>CCA364712415SLC17A5c.988T>G (p.Leu330Val)
c.937T>G (p.Leu313Val)
c.790T>G (p.Leu264Val)
c.757T>G (p.Leu253Val)
c.1009T>G (p.Leu337Val)
c.901T>G (p.Leu301Val)
c.829T>G (p.Leu277Val)
c.985T>G (p.Leu329Val)
c.670T>G (p.Leu224Val)
6g.73615438A>GCA450910088SLC17A5c.988T>C (p.Leu330=)
c.937T>C (p.Leu313=)
c.790T>C (p.Leu264=)
c.757T>C (p.Leu253=)
c.1009T>C (p.Leu337=)
c.901T>C (p.Leu301=)
c.829T>C (p.Leu277=)
c.985T>C (p.Leu329=)
c.670T>C (p.Leu224=)
6g.73615438A>TCA364712416SLC17A5c.988T>A (p.Leu330Ile)
c.937T>A (p.Leu313Ile)
c.790T>A (p.Leu264Ile)
c.757T>A (p.Leu253Ile)
c.1009T>A (p.Leu337Ile)
c.901T>A (p.Leu301Ile)
c.829T>A (p.Leu277Ile)
c.985T>A (p.Leu329Ile)
c.670T>A (p.Leu224Ile)
6g.73615439A>CCA364712417SLC17A5c.987T>G (p.Phe329Leu)
c.936T>G (p.Phe312Leu)
c.789T>G (p.Phe263Leu)
c.756T>G (p.Phe252Leu)
c.1008T>G (p.Phe336Leu)
c.900T>G (p.Phe300Leu)
c.828T>G (p.Phe276Leu)
c.984T>G (p.Phe328Leu)
c.669T>G (p.Phe223Leu)
6g.73615439A>GCA450910089SLC17A5c.987T>C (p.Phe329=)
c.936T>C (p.Phe312=)
c.789T>C (p.Phe263=)
c.756T>C (p.Phe252=)
c.1008T>C (p.Phe336=)
c.900T>C (p.Phe300=)
c.828T>C (p.Phe276=)
c.984T>C (p.Phe328=)
c.669T>C (p.Phe223=)
6g.73615439A>TCA364712418SLC17A5c.987T>A (p.Phe329Leu)
c.936T>A (p.Phe312Leu)
c.789T>A (p.Phe263Leu)
c.756T>A (p.Phe252Leu)
c.1008T>A (p.Phe336Leu)
c.900T>A (p.Phe300Leu)
c.828T>A (p.Phe276Leu)
c.984T>A (p.Phe328Leu)
c.669T>A (p.Phe223Leu)
6g.73615440A>CCA364712420SLC17A5c.986T>G (p.Phe329Cys)
c.935T>G (p.Phe312Cys)
c.788T>G (p.Phe263Cys)
c.755T>G (p.Phe252Cys)
c.1007T>G (p.Phe336Cys)
c.899T>G (p.Phe300Cys)
c.827T>G (p.Phe276Cys)
c.983T>G (p.Phe328Cys)
c.668T>G (p.Phe223Cys)
6g.73615440A>GCA364712421SLC17A5c.986T>C (p.Phe329Ser)
c.935T>C (p.Phe312Ser)
c.788T>C (p.Phe263Ser)
c.755T>C (p.Phe252Ser)
c.1007T>C (p.Phe336Ser)
c.899T>C (p.Phe300Ser)
c.827T>C (p.Phe276Ser)
c.983T>C (p.Phe328Ser)
c.668T>C (p.Phe223Ser)
6g.73615440A>TCA364712419SLC17A5c.986T>A (p.Phe329Tyr)
c.935T>A (p.Phe312Tyr)
c.788T>A (p.Phe263Tyr)
c.755T>A (p.Phe252Tyr)
c.1007T>A (p.Phe336Tyr)
c.899T>A (p.Phe300Tyr)
c.827T>A (p.Phe276Tyr)
c.983T>A (p.Phe328Tyr)
c.668T>A (p.Phe223Tyr)
6g.73615441A>CCA364712423SLC17A5c.985T>G (p.Phe329Val)
c.934T>G (p.Phe312Val)
c.787T>G (p.Phe263Val)
c.754T>G (p.Phe252Val)
c.1006T>G (p.Phe336Val)
c.898T>G (p.Phe300Val)
c.826T>G (p.Phe276Val)
c.982T>G (p.Phe328Val)
c.667T>G (p.Phe223Val)
6g.73615441A>GCA364712422SLC17A5c.985T>C (p.Phe329Leu)
c.934T>C (p.Phe312Leu)
c.787T>C (p.Phe263Leu)
c.754T>C (p.Phe252Leu)
c.1006T>C (p.Phe336Leu)
c.898T>C (p.Phe300Leu)
c.826T>C (p.Phe276Leu)
c.982T>C (p.Phe328Leu)
c.667T>C (p.Phe223Leu)
 dbSNP gnomAD v4
6g.73615441A>TCA364712424SLC17A5c.985T>A (p.Phe329Ile)
c.934T>A (p.Phe312Ile)
c.787T>A (p.Phe263Ile)
c.754T>A (p.Phe252Ile)
c.1006T>A (p.Phe336Ile)
c.898T>A (p.Phe300Ile)
c.826T>A (p.Phe276Ile)
c.982T>A (p.Phe328Ile)
c.667T>A (p.Phe223Ile)
6g.73615442C>ACA450910090SLC17A5c.984G>T (p.Gly328=)
c.933G>T (p.Gly311=)
c.786G>T (p.Gly262=)
c.753G>T (p.Gly251=)
c.1005G>T (p.Gly335=)
c.897G>T (p.Gly299=)
c.825G>T (p.Gly275=)
c.981G>T (p.Gly327=)
c.666G>T (p.Gly222=)
6g.73615442C>GCA450910091SLC17A5c.984G>C (p.Gly328=)
c.933G>C (p.Gly311=)
c.786G>C (p.Gly262=)
c.753G>C (p.Gly251=)
c.1005G>C (p.Gly335=)
c.897G>C (p.Gly299=)
c.825G>C (p.Gly275=)
c.981G>C (p.Gly327=)
c.666G>C (p.Gly222=)
6g.73615442C>TCA450910092SLC17A5c.984G>A (p.Gly328=)
c.933G>A (p.Gly311=)
c.786G>A (p.Gly262=)
c.753G>A (p.Gly251=)
c.1005G>A (p.Gly335=)
c.897G>A (p.Gly299=)
c.825G>A (p.Gly275=)
c.981G>A (p.Gly327=)
c.666G>A (p.Gly222=)
6g.73615443C>ACA364712425SLC17A5c.983G>T (p.Gly328Val)
c.932G>T (p.Gly311Val)
c.785G>T (p.Gly262Val)
c.752G>T (p.Gly251Val)
c.1004G>T (p.Gly335Val)
c.896G>T (p.Gly299Val)
c.824G>T (p.Gly275Val)
c.980G>T (p.Gly327Val)
c.665G>T (p.Gly222Val)
6g.73615443C=CA1638231834SLC17A5c.983G= (p.Gly328=)
c.932G= (p.Gly311=)
c.785G= (p.Gly262=)
c.752G= (p.Gly251=)
c.1004G= (p.Gly335=)
c.896G= (p.Gly299=)
c.824G= (p.Gly275=)
c.980G= (p.Gly327=)
c.665G= (p.Gly222=)
6g.73615443C>GCA364712426SLC17A5c.983G>C (p.Gly328Ala)
c.932G>C (p.Gly311Ala)
c.785G>C (p.Gly262Ala)
c.752G>C (p.Gly251Ala)
c.1004G>C (p.Gly335Ala)
c.896G>C (p.Gly299Ala)
c.824G>C (p.Gly275Ala)
c.980G>C (p.Gly327Ala)
c.665G>C (p.Gly222Ala)
6g.73615443C>TCA263933SLC17A5c.983G>A (p.Gly328Glu)
c.932G>A (p.Gly311Glu)
c.785G>A (p.Gly262Glu)
c.752G>A (p.Gly251Glu)
c.1004G>A (p.Gly335Glu)
c.896G>A (p.Gly299Glu)
c.824G>A (p.Gly275Glu)
c.980G>A (p.Gly327Glu)
c.665G>A (p.Gly222Glu)
 ClinVar dbSNP ExAC gnomAD v4
6g.73615444C>ACA364712427SLC17A5c.982G>T (p.Gly328Trp)
c.931G>T (p.Gly311Trp)
c.784G>T (p.Gly262Trp)
c.751G>T (p.Gly251Trp)
c.1003G>T (p.Gly335Trp)
c.895G>T (p.Gly299Trp)
c.823G>T (p.Gly275Trp)
c.979G>T (p.Gly327Trp)
c.664G>T (p.Gly222Trp)
6g.73615444C>GCA364712428SLC17A5c.982G>C (p.Gly328Arg)
c.931G>C (p.Gly311Arg)
c.784G>C (p.Gly262Arg)
c.751G>C (p.Gly251Arg)
c.1003G>C (p.Gly335Arg)
c.895G>C (p.Gly299Arg)
c.823G>C (p.Gly275Arg)
c.979G>C (p.Gly327Arg)
c.664G>C (p.Gly222Arg)
6g.73615444C>TCA364712429SLC17A5c.982G>A (p.Gly328Arg)
c.931G>A (p.Gly311Arg)
c.784G>A (p.Gly262Arg)
c.751G>A (p.Gly251Arg)
c.1003G>A (p.Gly335Arg)
c.895G>A (p.Gly299Arg)
c.823G>A (p.Gly275Arg)
c.979G>A (p.Gly327Arg)
c.664G>A (p.Gly222Arg)
6g.73615445A>CCA364712430SLC17A5c.981T>G (p.Asn327Lys)
c.930T>G (p.Asn310Lys)
c.783T>G (p.Asn261Lys)
c.750T>G (p.Asn250Lys)
c.1002T>G (p.Asn334Lys)
c.894T>G (p.Asn298Lys)
c.822T>G (p.Asn274Lys)
c.978T>G (p.Asn326Lys)
c.663T>G (p.Asn221Lys)
6g.73615445A>GCA450910093SLC17A5c.981T>C (p.Asn327=)
c.930T>C (p.Asn310=)
c.783T>C (p.Asn261=)
c.750T>C (p.Asn250=)
c.1002T>C (p.Asn334=)
c.894T>C (p.Asn298=)
c.822T>C (p.Asn274=)
c.978T>C (p.Asn326=)
c.663T>C (p.Asn221=)
6g.73615445A>TCA364712431SLC17A5c.981T>A (p.Asn327Lys)
c.930T>A (p.Asn310Lys)
c.783T>A (p.Asn261Lys)
c.750T>A (p.Asn250Lys)
c.1002T>A (p.Asn334Lys)
c.894T>A (p.Asn298Lys)
c.822T>A (p.Asn274Lys)
c.978T>A (p.Asn326Lys)
c.663T>A (p.Asn221Lys)
6g.73615446T>ACA364712432SLC17A5c.980A>T (p.Asn327Ile)
c.929A>T (p.Asn310Ile)
c.782A>T (p.Asn261Ile)
c.749A>T (p.Asn250Ile)
c.1001A>T (p.Asn334Ile)
c.893A>T (p.Asn298Ile)
c.821A>T (p.Asn274Ile)
c.977A>T (p.Asn326Ile)
c.662A>T (p.Asn221Ile)
6g.73615446T>CCA364712433SLC17A5c.980A>G (p.Asn327Ser)
c.929A>G (p.Asn310Ser)
c.782A>G (p.Asn261Ser)
c.749A>G (p.Asn250Ser)
c.1001A>G (p.Asn334Ser)
c.893A>G (p.Asn298Ser)
c.821A>G (p.Asn274Ser)
c.977A>G (p.Asn326Ser)
c.662A>G (p.Asn221Ser)
 dbSNP
6g.73615446T>GCA364712434SLC17A5c.980A>C (p.Asn327Thr)
c.929A>C (p.Asn310Thr)
c.782A>C (p.Asn261Thr)
c.749A>C (p.Asn250Thr)
c.1001A>C (p.Asn334Thr)
c.893A>C (p.Asn298Thr)
c.821A>C (p.Asn274Thr)
c.977A>C (p.Asn326Thr)
c.662A>C (p.Asn221Thr)
6g.73615446T=CA1638231835SLC17A5c.980A= (p.Asn327=)
c.929A= (p.Asn310=)
c.782A= (p.Asn261=)
c.749A= (p.Asn250=)
c.1001A= (p.Asn334=)
c.893A= (p.Asn298=)
c.821A= (p.Asn274=)
c.977A= (p.Asn326=)
c.662A= (p.Asn221=)
6g.73615447T>ACA364712435SLC17A5c.979A>T (p.Asn327Tyr)
c.928A>T (p.Asn310Tyr)
c.781A>T (p.Asn261Tyr)
c.748A>T (p.Asn250Tyr)
c.1000A>T (p.Asn334Tyr)
c.892A>T (p.Asn298Tyr)
c.820A>T (p.Asn274Tyr)
c.976A>T (p.Asn326Tyr)
c.661A>T (p.Asn221Tyr)
6g.73615447T>CCA364712436SLC17A5c.979A>G (p.Asn327Asp)
c.928A>G (p.Asn310Asp)
c.781A>G (p.Asn261Asp)
c.748A>G (p.Asn250Asp)
c.1000A>G (p.Asn334Asp)
c.892A>G (p.Asn298Asp)
c.820A>G (p.Asn274Asp)
c.976A>G (p.Asn326Asp)
c.661A>G (p.Asn221Asp)
6g.73615447T>GCA364712437SLC17A5c.979A>C (p.Asn327His)
c.928A>C (p.Asn310His)
c.781A>C (p.Asn261His)
c.748A>C (p.Asn250His)
c.1000A>C (p.Asn334His)
c.892A>C (p.Asn298His)
c.820A>C (p.Asn274His)
c.976A>C (p.Asn326His)
c.661A>C (p.Asn221His)
6g.73615448C>ACA364712440SLC17A5c.979-1G>T (n.979-1G>T)
c.928-1G>T (n.928-1G>T)
c.781-1G>T (n.781-1G>T)
c.748-1G>T (n.748-1G>T)
c.1000-1G>T (n.1000-1G>T)
c.892-1G>T (n.892-1G>T)
c.820-1G>T (n.820-1G>T)
c.976-1G>T (n.976-1G>T)
c.661-1G>T (n.661-1G>T)
 ClinVar
6g.73615448C>GCA364712439SLC17A5c.979-1G>C (n.979-1G>C)
c.928-1G>C (n.928-1G>C)
c.781-1G>C (n.781-1G>C)
c.748-1G>C (n.748-1G>C)
c.1000-1G>C (n.1000-1G>C)
c.892-1G>C (n.892-1G>C)
c.820-1G>C (n.820-1G>C)
c.976-1G>C (n.976-1G>C)
c.661-1G>C (n.661-1G>C)
 COSMIC
6g.73615448C>TCA364712438SLC17A5c.979-1G>A (n.979-1G>A)
c.928-1G>A (n.928-1G>A)
c.781-1G>A (n.781-1G>A)
c.748-1G>A (n.748-1G>A)
c.1000-1G>A (n.1000-1G>A)
c.892-1G>A (n.892-1G>A)
c.820-1G>A (n.820-1G>A)
c.976-1G>A (n.976-1G>A)
c.661-1G>A (n.661-1G>A)
6g.73615449T>ACA364712441SLC17A5c.979-2A>T (n.979-2A>T)
c.928-2A>T (n.928-2A>T)
c.781-2A>T (n.781-2A>T)
c.748-2A>T (n.748-2A>T)
c.1000-2A>T (n.1000-2A>T)
c.892-2A>T (n.892-2A>T)
c.820-2A>T (n.820-2A>T)
c.976-2A>T (n.976-2A>T)
c.661-2A>T (n.661-2A>T)
6g.73615449T>CCA364712442SLC17A5c.979-2A>G (n.979-2A>G)
c.928-2A>G (n.928-2A>G)
c.781-2A>G (n.781-2A>G)
c.748-2A>G (n.748-2A>G)
c.1000-2A>G (n.1000-2A>G)
c.892-2A>G (n.892-2A>G)
c.820-2A>G (n.820-2A>G)
c.976-2A>G (n.976-2A>G)
c.661-2A>G (n.661-2A>G)
 ClinVar dbSNP gnomAD v4
6g.73615449T>GCA364712443SLC17A5c.979-2A>C (n.979-2A>C)
c.928-2A>C (n.928-2A>C)
c.781-2A>C (n.781-2A>C)
c.748-2A>C (n.748-2A>C)
c.1000-2A>C (n.1000-2A>C)
c.892-2A>C (n.892-2A>C)
c.820-2A>C (n.820-2A>C)
c.976-2A>C (n.976-2A>C)
c.661-2A>C (n.661-2A>C)
6g.73615449T=CA1638231836SLC17A5c.979-2A= (n.979-2A=)
c.928-2A= (n.928-2A=)
c.781-2A= (n.781-2A=)
c.748-2A= (n.748-2A=)
c.1000-2A= (n.1000-2A=)
c.892-2A= (n.892-2A=)
c.820-2A= (n.820-2A=)
c.976-2A= (n.976-2A=)
c.661-2A= (n.661-2A=)
6g.73615451G=CA1638231837SLC17A5c.979-4C= (n.979-4C=)
c.928-4C= (n.928-4C=)
c.781-4C= (n.781-4C=)
c.748-4C= (n.748-4C=)
c.1000-4C= (n.1000-4C=)
c.892-4C= (n.892-4C=)
c.820-4C= (n.820-4C=)
c.976-4C= (n.976-4C=)
c.661-4C= (n.661-4C=)
6g.73615451G>TCA1638231838SLC17A5c.979-4C>A (n.979-4C>A)
c.928-4C>A (n.928-4C>A)
c.781-4C>A (n.781-4C>A)
c.748-4C>A (n.748-4C>A)
c.1000-4C>A (n.1000-4C>A)
c.892-4C>A (n.892-4C>A)
c.820-4C>A (n.820-4C>A)
c.976-4C>A (n.976-4C>A)
c.661-4C>A (n.661-4C>A)
 dbSNP
6g.73615454G>ACA567682000SLC17A5c.979-7C>T (n.979-7C>T)
c.928-7C>T (n.928-7C>T)
c.781-7C>T (n.781-7C>T)
c.748-7C>T (n.748-7C>T)
c.1000-7C>T (n.1000-7C>T)
c.892-7C>T (n.892-7C>T)
c.820-7C>T (n.820-7C>T)
c.976-7C>T (n.976-7C>T)
c.661-7C>T (n.661-7C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.73615454G=CA1638231839SLC17A5c.979-7C= (n.979-7C=)
c.928-7C= (n.928-7C=)
c.781-7C= (n.781-7C=)
c.748-7C= (n.748-7C=)
c.1000-7C= (n.1000-7C=)
c.892-7C= (n.892-7C=)
c.820-7C= (n.820-7C=)
c.976-7C= (n.976-7C=)
c.661-7C= (n.661-7C=)
6g.73615455G>CCA567682001SLC17A5c.979-8C>G (n.979-8C>G)
c.928-8C>G (n.928-8C>G)
c.781-8C>G (n.781-8C>G)
c.748-8C>G (n.748-8C>G)
c.1000-8C>G (n.1000-8C>G)
c.892-8C>G (n.892-8C>G)
c.820-8C>G (n.820-8C>G)
c.976-8C>G (n.976-8C>G)
c.661-8C>G (n.661-8C>G)
 dbSNP gnomAD v2 gnomAD v4
6g.73615455G=CA1638231840SLC17A5c.979-8C= (n.979-8C=)
c.928-8C= (n.928-8C=)
c.781-8C= (n.781-8C=)
c.748-8C= (n.748-8C=)
c.1000-8C= (n.1000-8C=)
c.892-8C= (n.892-8C=)
c.820-8C= (n.820-8C=)
c.976-8C= (n.976-8C=)
c.661-8C= (n.661-8C=)
6g.73615456A=CA1638231841SLC17A5c.979-9T= (n.979-9T=)
c.928-9T= (n.928-9T=)
c.781-9T= (n.781-9T=)
c.748-9T= (n.748-9T=)
c.1000-9T= (n.1000-9T=)
c.892-9T= (n.892-9T=)
c.820-9T= (n.820-9T=)
c.976-9T= (n.976-9T=)
c.661-9T= (n.661-9T=)
6g.73615456A>CCA1638231842SLC17A5c.979-9T>G (n.979-9T>G)
c.928-9T>G (n.928-9T>G)
c.781-9T>G (n.781-9T>G)
c.748-9T>G (n.748-9T>G)
c.1000-9T>G (n.1000-9T>G)
c.892-9T>G (n.892-9T>G)
c.820-9T>G (n.820-9T>G)
c.976-9T>G (n.976-9T>G)
c.661-9T>G (n.661-9T>G)
 dbSNP
6g.73615457A>GCA2739273239SLC17A5c.979-10T>C (n.979-10T>C)
c.928-10T>C (n.928-10T>C)
c.781-10T>C (n.781-10T>C)
c.748-10T>C (n.748-10T>C)
c.1000-10T>C (n.1000-10T>C)
c.892-10T>C (n.892-10T>C)
c.820-10T>C (n.820-10T>C)
c.976-10T>C (n.976-10T>C)
c.661-10T>C (n.661-10T>C)
 ClinVar
6g.73615458T>CCA2679403762SLC17A5c.979-11A>G (n.979-11A>G)
c.928-11A>G (n.928-11A>G)
c.781-11A>G (n.781-11A>G)
c.748-11A>G (n.748-11A>G)
c.1000-11A>G (n.1000-11A>G)
c.892-11A>G (n.892-11A>G)
c.820-11A>G (n.820-11A>G)
c.976-11A>G (n.976-11A>G)
c.661-11A>G (n.661-11A>G)
 ClinVar gnomAD v4
6g.73615459A>GCA2739273240SLC17A5c.979-12T>C (n.979-12T>C)
c.928-12T>C (n.928-12T>C)
c.781-12T>C (n.781-12T>C)
c.748-12T>C (n.748-12T>C)
c.1000-12T>C (n.1000-12T>C)
c.892-12T>C (n.892-12T>C)
c.820-12T>C (n.820-12T>C)
c.976-12T>C (n.976-12T>C)
c.661-12T>C (n.661-12T>C)
 ClinVar
6g.73615463_73615465delCA2679403763SLC17A5c.979-14_979-12del (n.979-14_979-12del)
c.928-14_928-12del (n.928-14_928-12del)
c.781-14_781-12del (n.781-14_781-12del)
c.748-14_748-12del (n.748-14_748-12del)
c.1000-14_1000-12del (n.1000-14_1000-12del)
c.892-14_892-12del (n.892-14_892-12del)
c.820-14_820-12del (n.820-14_820-12del)
c.976-14_976-12del (n.976-14_976-12del)
c.661-14_661-12del (n.661-14_661-12del)
 gnomAD v4
6g.73615463A>GCA2679403765SLC17A5c.979-16T>C (n.979-16T>C)
c.928-16T>C (n.928-16T>C)
c.781-16T>C (n.781-16T>C)
c.748-16T>C (n.748-16T>C)
c.1000-16T>C (n.1000-16T>C)
c.892-16T>C (n.892-16T>C)
c.820-16T>C (n.820-16T>C)
c.976-16T>C (n.976-16T>C)
c.661-16T>C (n.661-16T>C)
 gnomAD v4
6g.73615463A>TCA2679403764SLC17A5c.979-16T>A (n.979-16T>A)
c.928-16T>A (n.928-16T>A)
c.781-16T>A (n.781-16T>A)
c.748-16T>A (n.748-16T>A)
c.1000-16T>A (n.1000-16T>A)
c.892-16T>A (n.892-16T>A)
c.820-16T>A (n.820-16T>A)
c.976-16T>A (n.976-16T>A)
c.661-16T>A (n.661-16T>A)
 gnomAD v4
6g.73615464G>CCA827960994SLC17A5c.979-17C>G (n.979-17C>G)
c.928-17C>G (n.928-17C>G)
c.781-17C>G (n.781-17C>G)
c.748-17C>G (n.748-17C>G)
c.1000-17C>G (n.1000-17C>G)
c.892-17C>G (n.892-17C>G)
c.820-17C>G (n.820-17C>G)
c.976-17C>G (n.976-17C>G)
c.661-17C>G (n.661-17C>G)
 dbSNP
6g.73615464G=CA1638231843SLC17A5c.979-17C= (n.979-17C=)
c.928-17C= (n.928-17C=)
c.781-17C= (n.781-17C=)
c.748-17C= (n.748-17C=)
c.1000-17C= (n.1000-17C=)
c.892-17C= (n.892-17C=)
c.820-17C= (n.820-17C=)
c.976-17C= (n.976-17C=)
c.661-17C= (n.661-17C=)
6g.73615464G>TCA567682002SLC17A5c.979-17C>A (n.979-17C>A)
c.928-17C>A (n.928-17C>A)
c.781-17C>A (n.781-17C>A)
c.748-17C>A (n.748-17C>A)
c.1000-17C>A (n.1000-17C>A)
c.892-17C>A (n.892-17C>A)
c.820-17C>A (n.820-17C>A)
c.976-17C>A (n.976-17C>A)
c.661-17C>A (n.661-17C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.73615466T>CCA2679403766SLC17A5c.979-19A>G (n.979-19A>G)
c.928-19A>G (n.928-19A>G)
c.781-19A>G (n.781-19A>G)
c.748-19A>G (n.748-19A>G)
c.1000-19A>G (n.1000-19A>G)
c.892-19A>G (n.892-19A>G)
c.820-19A>G (n.820-19A>G)
c.976-19A>G (n.976-19A>G)
c.661-19A>G (n.661-19A>G)
 gnomAD v4
6g.73615467A>GCA2679403767SLC17A5c.979-20T>C (n.979-20T>C)
c.928-20T>C (n.928-20T>C)
c.781-20T>C (n.781-20T>C)
c.748-20T>C (n.748-20T>C)
c.1000-20T>C (n.1000-20T>C)
c.892-20T>C (n.892-20T>C)
c.820-20T>C (n.820-20T>C)
c.976-20T>C (n.976-20T>C)
c.661-20T>C (n.661-20T>C)
 gnomAD v4
6g.73615468C=CA1638231844SLC17A5c.979-21G= (n.979-21G=)
c.928-21G= (n.928-21G=)
c.781-21G= (n.781-21G=)
c.748-21G= (n.748-21G=)
c.1000-21G= (n.1000-21G=)
c.892-21G= (n.892-21G=)
c.820-21G= (n.820-21G=)
c.976-21G= (n.976-21G=)
c.661-21G= (n.661-21G=)
6g.73615468C>TCA3890368SLC17A5c.979-21G>A (n.979-21G>A)
c.928-21G>A (n.928-21G>A)
c.781-21G>A (n.781-21G>A)
c.748-21G>A (n.748-21G>A)
c.1000-21G>A (n.1000-21G>A)
c.892-21G>A (n.892-21G>A)
c.820-21G>A (n.820-21G>A)
c.976-21G>A (n.976-21G>A)
c.661-21G>A (n.661-21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615469A>GCA2578694411SLC17A5c.979-22T>C (n.979-22T>C)
c.928-22T>C (n.928-22T>C)
c.781-22T>C (n.781-22T>C)
c.748-22T>C (n.748-22T>C)
c.1000-22T>C (n.1000-22T>C)
c.892-22T>C (n.892-22T>C)
c.820-22T>C (n.820-22T>C)
c.976-22T>C (n.976-22T>C)
c.661-22T>C (n.661-22T>C)
6g.73615470G=CA1638231845SLC17A5c.979-23C= (n.979-23C=)
c.928-23C= (n.928-23C=)
c.781-23C= (n.781-23C=)
c.748-23C= (n.748-23C=)
c.1000-23C= (n.1000-23C=)
c.892-23C= (n.892-23C=)
c.820-23C= (n.820-23C=)
c.976-23C= (n.976-23C=)
c.661-23C= (n.661-23C=)
6g.73615470G>TCA827960998SLC17A5c.979-23C>A (n.979-23C>A)
c.928-23C>A (n.928-23C>A)
c.781-23C>A (n.781-23C>A)
c.748-23C>A (n.748-23C>A)
c.1000-23C>A (n.1000-23C>A)
c.892-23C>A (n.892-23C>A)
c.820-23C>A (n.820-23C>A)
c.976-23C>A (n.976-23C>A)
c.661-23C>A (n.661-23C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.73615471G=CA1638231846SLC17A5c.979-24C= (n.979-24C=)
c.928-24C= (n.928-24C=)
c.781-24C= (n.781-24C=)
c.748-24C= (n.748-24C=)
c.1000-24C= (n.1000-24C=)
c.892-24C= (n.892-24C=)
c.820-24C= (n.820-24C=)
c.976-24C= (n.976-24C=)
c.661-24C= (n.661-24C=)
6g.73615471G>TCA567682003SLC17A5c.979-24C>A (n.979-24C>A)
c.928-24C>A (n.928-24C>A)
c.781-24C>A (n.781-24C>A)
c.748-24C>A (n.748-24C>A)
c.1000-24C>A (n.1000-24C>A)
c.892-24C>A (n.892-24C>A)
c.820-24C>A (n.820-24C>A)
c.976-24C>A (n.976-24C>A)
c.661-24C>A (n.661-24C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.73615471_73615474delCA2679403768SLC17A5c.979-27_979-24del (n.979-27_979-24del)
c.928-27_928-24del (n.928-27_928-24del)
c.781-27_781-24del (n.781-27_781-24del)
c.748-27_748-24del (n.748-27_748-24del)
c.1000-27_1000-24del (n.1000-27_1000-24del)
c.892-27_892-24del (n.892-27_892-24del)
c.820-27_820-24del (n.820-27_820-24del)
c.976-27_976-24del (n.976-27_976-24del)
c.661-27_661-24del (n.661-27_661-24del)
 gnomAD v4
6g.73615476A>GCA2679403769SLC17A5c.979-29T>C (n.979-29T>C)
c.928-29T>C (n.928-29T>C)
c.781-29T>C (n.781-29T>C)
c.748-29T>C (n.748-29T>C)
c.1000-29T>C (n.1000-29T>C)
c.892-29T>C (n.892-29T>C)
c.820-29T>C (n.820-29T>C)
c.976-29T>C (n.976-29T>C)
c.661-29T>C (n.661-29T>C)
 gnomAD v4
6g.73615476_73615477delinsATCA1638231847SLC17A5c.979-30_979-29delinsAT (n.979-30_979-29delinsAT)
c.928-30_928-29delinsAT (n.928-30_928-29delinsAT)
c.781-30_781-29delinsAT (n.781-30_781-29delinsAT)
c.748-30_748-29delinsAT (n.748-30_748-29delinsAT)
c.1000-30_1000-29delinsAT (n.1000-30_1000-29delinsAT)
c.892-30_892-29delinsAT (n.892-30_892-29delinsAT)
c.820-30_820-29delinsAT (n.820-30_820-29delinsAT)
c.976-30_976-29delinsAT (n.976-30_976-29delinsAT)
c.661-30_661-29delinsAT (n.661-30_661-29delinsAT)
6g.73615478delCA1638231848SLC17A5c.979-30del (n.979-30del)
c.928-30del (n.928-30del)
c.781-30del (n.781-30del)
c.748-30del (n.748-30del)
c.1000-30del (n.1000-30del)
c.892-30del (n.892-30del)
c.820-30del (n.820-30del)
c.976-30del (n.976-30del)
c.661-30del (n.661-30del)
 dbSNP gnomAD v4
6g.73615478T>CCA3890369SLC17A5c.979-31A>G (n.979-31A>G)
c.928-31A>G (n.928-31A>G)
c.781-31A>G (n.781-31A>G)
c.748-31A>G (n.748-31A>G)
c.1000-31A>G (n.1000-31A>G)
c.892-31A>G (n.892-31A>G)
c.820-31A>G (n.820-31A>G)
c.976-31A>G (n.976-31A>G)
c.661-31A>G (n.661-31A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615478T=CA1638231849SLC17A5c.979-31A= (n.979-31A=)
c.928-31A= (n.928-31A=)
c.781-31A= (n.781-31A=)
c.748-31A= (n.748-31A=)
c.1000-31A= (n.1000-31A=)
c.892-31A= (n.892-31A=)
c.820-31A= (n.820-31A=)
c.976-31A= (n.976-31A=)
c.661-31A= (n.661-31A=)
6g.73615480C>ACA2581592301SLC17A5c.979-33G>T (n.979-33G>T)
c.928-33G>T (n.928-33G>T)
c.781-33G>T (n.781-33G>T)
c.748-33G>T (n.748-33G>T)
c.1000-33G>T (n.1000-33G>T)
c.892-33G>T (n.892-33G>T)
c.820-33G>T (n.820-33G>T)
c.976-33G>T (n.976-33G>T)
c.661-33G>T (n.661-33G>T)
6g.73615480C=CA1638231850SLC17A5c.979-33G= (n.979-33G=)
c.928-33G= (n.928-33G=)
c.781-33G= (n.781-33G=)
c.748-33G= (n.748-33G=)
c.1000-33G= (n.1000-33G=)
c.892-33G= (n.892-33G=)
c.820-33G= (n.820-33G=)
c.976-33G= (n.976-33G=)
c.661-33G= (n.661-33G=)
6g.73615480C>GCA2581592302SLC17A5c.979-33G>C (n.979-33G>C)
c.928-33G>C (n.928-33G>C)
c.781-33G>C (n.781-33G>C)
c.748-33G>C (n.748-33G>C)
c.1000-33G>C (n.1000-33G>C)
c.892-33G>C (n.892-33G>C)
c.820-33G>C (n.820-33G>C)
c.976-33G>C (n.976-33G>C)
c.661-33G>C (n.661-33G>C)
6g.73615480C>TCA3890370SLC17A5c.979-33G>A (n.979-33G>A)
c.928-33G>A (n.928-33G>A)
c.781-33G>A (n.781-33G>A)
c.748-33G>A (n.748-33G>A)
c.1000-33G>A (n.1000-33G>A)
c.892-33G>A (n.892-33G>A)
c.820-33G>A (n.820-33G>A)
c.976-33G>A (n.976-33G>A)
c.661-33G>A (n.661-33G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615480_73615481insTCA650448929SLC17A5c.979-34_979-33insA (n.979-34_979-33insA)
c.928-34_928-33insA (n.928-34_928-33insA)
c.781-34_781-33insA (n.781-34_781-33insA)
c.748-34_748-33insA (n.748-34_748-33insA)
c.1000-34_1000-33insA (n.1000-34_1000-33insA)
c.892-34_892-33insA (n.892-34_892-33insA)
c.820-34_820-33insA (n.820-34_820-33insA)
c.976-34_976-33insA (n.976-34_976-33insA)
c.661-34_661-33insA (n.661-34_661-33insA)
6g.73615481G>ACA3890371SLC17A5c.979-34C>T (n.979-34C>T)
c.928-34C>T (n.928-34C>T)
c.781-34C>T (n.781-34C>T)
c.748-34C>T (n.748-34C>T)
c.1000-34C>T (n.1000-34C>T)
c.892-34C>T (n.892-34C>T)
c.820-34C>T (n.820-34C>T)
c.976-34C>T (n.976-34C>T)
c.661-34C>T (n.661-34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73615481G=CA1638231851SLC17A5c.979-34C= (n.979-34C=)
c.928-34C= (n.928-34C=)
c.781-34C= (n.781-34C=)
c.748-34C= (n.748-34C=)
c.1000-34C= (n.1000-34C=)
c.892-34C= (n.892-34C=)
c.820-34C= (n.820-34C=)
c.976-34C= (n.976-34C=)
c.661-34C= (n.661-34C=)
6g.73615482G>ACA2679403770SLC17A5c.979-35C>T (n.979-35C>T)
c.928-35C>T (n.928-35C>T)
c.781-35C>T (n.781-35C>T)
c.748-35C>T (n.748-35C>T)
c.1000-35C>T (n.1000-35C>T)
c.892-35C>T (n.892-35C>T)
c.820-35C>T (n.820-35C>T)
c.976-35C>T (n.976-35C>T)
c.661-35C>T (n.661-35C>T)
 gnomAD v4
6g.73615484G>ACA2679403771SLC17A5c.979-37C>T (n.979-37C>T)
c.928-37C>T (n.928-37C>T)
c.781-37C>T (n.781-37C>T)
c.748-37C>T (n.748-37C>T)
c.1000-37C>T (n.1000-37C>T)
c.892-37C>T (n.892-37C>T)
c.820-37C>T (n.820-37C>T)
c.976-37C>T (n.976-37C>T)
c.661-37C>T (n.661-37C>T)
 gnomAD v4
6g.73615485A=CA1638231852SLC17A5c.979-38T= (n.979-38T=)
c.928-38T= (n.928-38T=)
c.781-38T= (n.781-38T=)
c.748-38T= (n.748-38T=)
c.1000-38T= (n.1000-38T=)
c.892-38T= (n.892-38T=)
c.820-38T= (n.820-38T=)
c.976-38T= (n.976-38T=)
c.661-38T= (n.661-38T=)
6g.73615485A>CCA1638231853SLC17A5c.979-38T>G (n.979-38T>G)
c.928-38T>G (n.928-38T>G)
c.781-38T>G (n.781-38T>G)
c.748-38T>G (n.748-38T>G)
c.1000-38T>G (n.1000-38T>G)
c.892-38T>G (n.892-38T>G)
c.820-38T>G (n.820-38T>G)
c.976-38T>G (n.976-38T>G)
c.661-38T>G (n.661-38T>G)
 dbSNP
6g.73615485A>GCA2679403772SLC17A5c.979-38T>C (n.979-38T>C)
c.928-38T>C (n.928-38T>C)
c.781-38T>C (n.781-38T>C)
c.748-38T>C (n.748-38T>C)
c.1000-38T>C (n.1000-38T>C)
c.892-38T>C (n.892-38T>C)
c.820-38T>C (n.820-38T>C)
c.976-38T>C (n.976-38T>C)
c.661-38T>C (n.661-38T>C)
 gnomAD v4
6g.73615486G>CCA1090517810SLC17A5c.979-39C>G (n.979-39C>G)
c.928-39C>G (n.928-39C>G)
c.781-39C>G (n.781-39C>G)
c.748-39C>G (n.748-39C>G)
c.1000-39C>G (n.1000-39C>G)
c.892-39C>G (n.892-39C>G)
c.820-39C>G (n.820-39C>G)
c.976-39C>G (n.976-39C>G)
c.661-39C>G (n.661-39C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.73615486G=CA1638231854SLC17A5c.979-39C= (n.979-39C=)
c.928-39C= (n.928-39C=)
c.781-39C= (n.781-39C=)
c.748-39C= (n.748-39C=)
c.1000-39C= (n.1000-39C=)
c.892-39C= (n.892-39C=)
c.820-39C= (n.820-39C=)
c.976-39C= (n.976-39C=)
c.661-39C= (n.661-39C=)
6g.73615486_73615487delinsGACA1638231855SLC17A5c.979-40_979-39delinsTC (n.979-40_979-39delinsTC)
c.928-40_928-39delinsTC (n.928-40_928-39delinsTC)
c.781-40_781-39delinsTC (n.781-40_781-39delinsTC)
c.748-40_748-39delinsTC (n.748-40_748-39delinsTC)
c.1000-40_1000-39delinsTC (n.1000-40_1000-39delinsTC)
c.892-40_892-39delinsTC (n.892-40_892-39delinsTC)
c.820-40_820-39delinsTC (n.820-40_820-39delinsTC)
c.976-40_976-39delinsTC (n.976-40_976-39delinsTC)
c.661-40_661-39delinsTC (n.661-40_661-39delinsTC)
6g.73615487delCA1638231856SLC17A5c.979-40del (n.979-40del)
c.928-40del (n.928-40del)
c.781-40del (n.781-40del)
c.748-40del (n.748-40del)
c.1000-40del (n.1000-40del)
c.892-40del (n.892-40del)
c.820-40del (n.820-40del)
c.976-40del (n.976-40del)
c.661-40del (n.661-40del)
 dbSNP
6g.73615488G>ACA1638231859SLC17A5c.979-41C>T (n.979-41C>T)
c.928-41C>T (n.928-41C>T)
c.781-41C>T (n.781-41C>T)
c.748-41C>T (n.748-41C>T)
c.1000-41C>T (n.1000-41C>T)
c.892-41C>T (n.892-41C>T)
c.820-41C>T (n.820-41C>T)
c.976-41C>T (n.976-41C>T)
c.661-41C>T (n.661-41C>T)
 dbSNP gnomAD v4
6g.73615488G=CA1638231858SLC17A5c.979-41C= (n.979-41C=)
c.928-41C= (n.928-41C=)
c.781-41C= (n.781-41C=)
c.748-41C= (n.748-41C=)
c.1000-41C= (n.1000-41C=)
c.892-41C= (n.892-41C=)
c.820-41C= (n.820-41C=)
c.976-41C= (n.976-41C=)
c.661-41C= (n.661-41C=)
6g.73615488_73615489delinsGACA1638231857SLC17A5c.979-42_979-41delinsTC (n.979-42_979-41delinsTC)
c.928-42_928-41delinsTC (n.928-42_928-41delinsTC)
c.781-42_781-41delinsTC (n.781-42_781-41delinsTC)
c.748-42_748-41delinsTC (n.748-42_748-41delinsTC)
c.1000-42_1000-41delinsTC (n.1000-42_1000-41delinsTC)
c.892-42_892-41delinsTC (n.892-42_892-41delinsTC)
c.820-42_820-41delinsTC (n.820-42_820-41delinsTC)
c.976-42_976-41delinsTC (n.976-42_976-41delinsTC)
c.661-42_661-41delinsTC (n.661-42_661-41delinsTC)
6g.73615495dupCA3890372SLC17A5c.979-42dup (n.979-42dup)
c.928-42dup (n.928-42dup)
c.781-42dup (n.781-42dup)
c.748-42dup (n.748-42dup)
c.1000-42dup (n.1000-42dup)
c.892-42dup (n.892-42dup)
c.820-42dup (n.820-42dup)
c.976-42dup (n.976-42dup)
c.661-42dup (n.661-42dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73615495delCA917781196SLC17A5c.979-42del (n.979-42del)
c.928-42del (n.928-42del)
c.781-42del (n.781-42del)
c.748-42del (n.748-42del)
c.1000-42del (n.1000-42del)
c.892-42del (n.892-42del)
c.820-42del (n.820-42del)
c.976-42del (n.976-42del)
c.661-42del (n.661-42del)
 dbSNP gnomAD v3 gnomAD v4
6g.73615490A=CA1638231861SLC17A5c.979-43T= (n.979-43T=)
c.928-43T= (n.928-43T=)
c.781-43T= (n.781-43T=)
c.748-43T= (n.748-43T=)
c.1000-43T= (n.1000-43T=)
c.892-43T= (n.892-43T=)
c.820-43T= (n.820-43T=)
c.976-43T= (n.976-43T=)
c.661-43T= (n.661-43T=)
6g.73615490A>CCA827961011SLC17A5c.979-43T>G (n.979-43T>G)
c.928-43T>G (n.928-43T>G)
c.781-43T>G (n.781-43T>G)
c.748-43T>G (n.748-43T>G)
c.1000-43T>G (n.1000-43T>G)
c.892-43T>G (n.892-43T>G)
c.820-43T>G (n.820-43T>G)
c.976-43T>G (n.976-43T>G)
c.661-43T>G (n.661-43T>G)
 dbSNP gnomAD v3 gnomAD v4
6g.73615490A>GCA1638231860SLC17A5c.979-43T>C (n.979-43T>C)
c.928-43T>C (n.928-43T>C)
c.781-43T>C (n.781-43T>C)
c.748-43T>C (n.748-43T>C)
c.1000-43T>C (n.1000-43T>C)
c.892-43T>C (n.892-43T>C)
c.820-43T>C (n.820-43T>C)
c.976-43T>C (n.976-43T>C)
c.661-43T>C (n.661-43T>C)
 dbSNP gnomAD v4
6g.73615491A>CCA2679403773SLC17A5c.979-44T>G (n.979-44T>G)
c.928-44T>G (n.928-44T>G)
c.781-44T>G (n.781-44T>G)
c.748-44T>G (n.748-44T>G)
c.1000-44T>G (n.1000-44T>G)
c.892-44T>G (n.892-44T>G)
c.820-44T>G (n.820-44T>G)
c.976-44T>G (n.976-44T>G)
c.661-44T>G (n.661-44T>G)
 gnomAD v4
6g.73615495A=CA1638231862SLC17A5c.979-48T= (n.979-48T=)
c.928-48T= (n.928-48T=)
c.781-48T= (n.781-48T=)
c.748-48T= (n.748-48T=)
c.1000-48T= (n.1000-48T=)
c.892-48T= (n.892-48T=)
c.820-48T= (n.820-48T=)
c.976-48T= (n.976-48T=)
c.661-48T= (n.661-48T=)
6g.73615495A>CCA1638231863SLC17A5c.979-48T>G (n.979-48T>G)
c.928-48T>G (n.928-48T>G)
c.781-48T>G (n.781-48T>G)
c.748-48T>G (n.748-48T>G)
c.1000-48T>G (n.1000-48T>G)
c.892-48T>G (n.892-48T>G)
c.820-48T>G (n.820-48T>G)
c.976-48T>G (n.976-48T>G)
c.661-48T>G (n.661-48T>G)
 dbSNP gnomAD v4
6g.73615496C=CA1638231864SLC17A5c.979-49G= (n.979-49G=)
c.928-49G= (n.928-49G=)
c.781-49G= (n.781-49G=)
c.748-49G= (n.748-49G=)
c.1000-49G= (n.1000-49G=)
c.892-49G= (n.892-49G=)
c.820-49G= (n.820-49G=)
c.976-49G= (n.976-49G=)
c.661-49G= (n.661-49G=)
6g.73615496C>TCA1638231865SLC17A5c.979-49G>A (n.979-49G>A)
c.928-49G>A (n.928-49G>A)
c.781-49G>A (n.781-49G>A)
c.748-49G>A (n.748-49G>A)
c.1000-49G>A (n.1000-49G>A)
c.892-49G>A (n.892-49G>A)
c.820-49G>A (n.820-49G>A)
c.976-49G>A (n.976-49G>A)
c.661-49G>A (n.661-49G>A)
 dbSNP
6g.73615497A>CCA2771704865SLC17A5c.979-50T>G (n.979-50T>G)
c.928-50T>G (n.928-50T>G)
c.781-50T>G (n.781-50T>G)
c.748-50T>G (n.748-50T>G)
c.1000-50T>G (n.1000-50T>G)
c.892-50T>G (n.892-50T>G)
c.820-50T>G (n.820-50T>G)
c.976-50T>G (n.976-50T>G)
c.661-50T>G (n.661-50T>G)
6g.73615499_73615500delCA2679403774SLC17A5c.979-51_979-50del (n.979-51_979-50del)
c.928-51_928-50del (n.928-51_928-50del)
c.781-51_781-50del (n.781-51_781-50del)
c.748-51_748-50del (n.748-51_748-50del)
c.1000-51_1000-50del (n.1000-51_1000-50del)
c.892-51_892-50del (n.892-51_892-50del)
c.820-51_820-50del (n.820-51_820-50del)
c.976-51_976-50del (n.976-51_976-50del)
c.661-51_661-50del (n.661-51_661-50del)
 gnomAD v4
6g.73615497_73615498insCCCA2771704866SLC17A5c.979-51_979-50insGG (n.979-51_979-50insGG)
c.928-51_928-50insGG (n.928-51_928-50insGG)
c.781-51_781-50insGG (n.781-51_781-50insGG)
c.748-51_748-50insGG (n.748-51_748-50insGG)
c.1000-51_1000-50insGG (n.1000-51_1000-50insGG)
c.892-51_892-50insGG (n.892-51_892-50insGG)
c.820-51_820-50insGG (n.820-51_820-50insGG)
c.976-51_976-50insGG (n.976-51_976-50insGG)
c.661-51_661-50insGG (n.661-51_661-50insGG)
6g.73615499_73615502delCA2578694412SLC17A5c.979-54_979-51del (n.979-54_979-51del)
c.928-54_928-51del (n.928-54_928-51del)
c.781-54_781-51del (n.781-54_781-51del)
c.748-54_748-51del (n.748-54_748-51del)
c.1000-54_1000-51del (n.1000-54_1000-51del)
c.892-54_892-51del (n.892-54_892-51del)
c.820-54_820-51del (n.820-54_820-51del)
c.976-54_976-51del (n.976-54_976-51del)
c.661-54_661-51del (n.661-54_661-51del)
 gnomAD v4
6g.73615499A=CA1638231866SLC17A5c.979-52T= (n.979-52T=)
c.928-52T= (n.928-52T=)
c.781-52T= (n.781-52T=)
c.748-52T= (n.748-52T=)
c.1000-52T= (n.1000-52T=)
c.892-52T= (n.892-52T=)
c.820-52T= (n.820-52T=)
c.976-52T= (n.976-52T=)
c.661-52T= (n.661-52T=)
6g.73615499_73615500insGTGTGTTTCCCCA3890373SLC17A5c.979-53_979-52insGGGAAACACAC (n.979-53_979-52insGGGAAACACAC)
c.928-53_928-52insGGGAAACACAC (n.928-53_928-52insGGGAAACACAC)
c.781-53_781-52insGGGAAACACAC (n.781-53_781-52insGGGAAACACAC)
c.748-53_748-52insGGGAAACACAC (n.748-53_748-52insGGGAAACACAC)
c.1000-53_1000-52insGGGAAACACAC (n.1000-53_1000-52insGGGAAACACAC)
c.892-53_892-52insGGGAAACACAC (n.892-53_892-52insGGGAAACACAC)
c.820-53_820-52insGGGAAACACAC (n.820-53_820-52insGGGAAACACAC)
c.976-53_976-52insGGGAAACACAC (n.976-53_976-52insGGGAAACACAC)
c.661-53_661-52insGGGAAACACAC (n.661-53_661-52insGGGAAACACAC)
 dbSNP ExAC
6g.73615499_73615500insGTGTGTTTCCCACTTTTCA567682004SLC17A5c.979-53_979-52insAAAAGTGGGAAACACAC (n.979-53_979-52insAAAAGTGGGAAACACAC)
c.928-53_928-52insAAAAGTGGGAAACACAC (n.928-53_928-52insAAAAGTGGGAAACACAC)
c.781-53_781-52insAAAAGTGGGAAACACAC (n.781-53_781-52insAAAAGTGGGAAACACAC)
c.748-53_748-52insAAAAGTGGGAAACACAC (n.748-53_748-52insAAAAGTGGGAAACACAC)
c.1000-53_1000-52insAAAAGTGGGAAACACAC (n.1000-53_1000-52insAAAAGTGGGAAACACAC)
c.892-53_892-52insAAAAGTGGGAAACACAC (n.892-53_892-52insAAAAGTGGGAAACACAC)
c.820-53_820-52insAAAAGTGGGAAACACAC (n.820-53_820-52insAAAAGTGGGAAACACAC)
c.976-53_976-52insAAAAGTGGGAAACACAC (n.976-53_976-52insAAAAGTGGGAAACACAC)
c.661-53_661-52insAAAAGTGGGAAACACAC (n.661-53_661-52insAAAAGTGGGAAACACAC)
 dbSNP gnomAD v2
6g.73615500A>CCA2771704867SLC17A5c.979-53T>G (n.979-53T>G)
c.928-53T>G (n.928-53T>G)
c.781-53T>G (n.781-53T>G)
c.748-53T>G (n.748-53T>G)
c.1000-53T>G (n.1000-53T>G)
c.892-53T>G (n.892-53T>G)
c.820-53T>G (n.820-53T>G)
c.976-53T>G (n.976-53T>G)
c.661-53T>G (n.661-53T>G)
6g.73615502A>CCA2679403776SLC17A5c.979-55T>G (n.979-55T>G)
c.928-55T>G (n.928-55T>G)
c.781-55T>G (n.781-55T>G)
c.748-55T>G (n.748-55T>G)
c.1000-55T>G (n.1000-55T>G)
c.892-55T>G (n.892-55T>G)
c.820-55T>G (n.820-55T>G)
c.976-55T>G (n.976-55T>G)
c.661-55T>G (n.661-55T>G)
 gnomAD v4
6g.73615503_73615504delCA2679403775SLC17A5c.979-56_979-55del (n.979-56_979-55del)
c.928-56_928-55del (n.928-56_928-55del)
c.781-56_781-55del (n.781-56_781-55del)
c.748-56_748-55del (n.748-56_748-55del)
c.1000-56_1000-55del (n.1000-56_1000-55del)
c.892-56_892-55del (n.892-56_892-55del)
c.820-56_820-55del (n.820-56_820-55del)
c.976-56_976-55del (n.976-56_976-55del)
c.661-56_661-55del (n.661-56_661-55del)
 gnomAD v4
6g.73615503T>ACA2771704868SLC17A5c.979-56A>T (n.979-56A>T)
c.928-56A>T (n.928-56A>T)
c.781-56A>T (n.781-56A>T)
c.748-56A>T (n.748-56A>T)
c.1000-56A>T (n.1000-56A>T)
c.892-56A>T (n.892-56A>T)
c.820-56A>T (n.820-56A>T)
c.976-56A>T (n.976-56A>T)
c.661-56A>T (n.661-56A>T)
6g.73615503T>CCA1090517814SLC17A5c.979-56A>G (n.979-56A>G)
c.928-56A>G (n.928-56A>G)
c.781-56A>G (n.781-56A>G)
c.748-56A>G (n.748-56A>G)
c.1000-56A>G (n.1000-56A>G)
c.892-56A>G (n.892-56A>G)
c.820-56A>G (n.820-56A>G)
c.976-56A>G (n.976-56A>G)
c.661-56A>G (n.661-56A>G)
 dbSNP gnomAD v3 gnomAD v4
6g.73615503T=CA1638231867SLC17A5c.979-56A= (n.979-56A=)
c.928-56A= (n.928-56A=)
c.781-56A= (n.781-56A=)
c.748-56A= (n.748-56A=)
c.1000-56A= (n.1000-56A=)
c.892-56A= (n.892-56A=)
c.820-56A= (n.820-56A=)
c.976-56A= (n.976-56A=)
c.661-56A= (n.661-56A=)
6g.73615504A>CCA2679403777SLC17A5c.979-57T>G (n.979-57T>G)
c.928-57T>G (n.928-57T>G)
c.781-57T>G (n.781-57T>G)
c.748-57T>G (n.748-57T>G)
c.1000-57T>G (n.1000-57T>G)
c.892-57T>G (n.892-57T>G)
c.820-57T>G (n.820-57T>G)
c.976-57T>G (n.976-57T>G)
c.661-57T>G (n.661-57T>G)
 gnomAD v4
6g.73615505C>ACA2679403778SLC17A5c.979-58G>T (n.979-58G>T)
c.928-58G>T (n.928-58G>T)
c.781-58G>T (n.781-58G>T)
c.748-58G>T (n.748-58G>T)
c.1000-58G>T (n.1000-58G>T)
c.892-58G>T (n.892-58G>T)
c.820-58G>T (n.820-58G>T)
c.976-58G>T (n.976-58G>T)
c.661-58G>T (n.661-58G>T)
 gnomAD v4
6g.73615505C>TCA2679403779SLC17A5c.979-58G>A (n.979-58G>A)
c.928-58G>A (n.928-58G>A)
c.781-58G>A (n.781-58G>A)
c.748-58G>A (n.748-58G>A)
c.1000-58G>A (n.1000-58G>A)
c.892-58G>A (n.892-58G>A)
c.820-58G>A (n.820-58G>A)
c.976-58G>A (n.976-58G>A)
c.661-58G>A (n.661-58G>A)
 gnomAD v4
6g.73615506A>CCA2679403780SLC17A5c.979-59T>G (n.979-59T>G)
c.928-59T>G (n.928-59T>G)
c.781-59T>G (n.781-59T>G)
c.748-59T>G (n.748-59T>G)
c.1000-59T>G (n.1000-59T>G)
c.892-59T>G (n.892-59T>G)
c.820-59T>G (n.820-59T>G)
c.976-59T>G (n.976-59T>G)
c.661-59T>G (n.661-59T>G)
 gnomAD v4
6g.73615507C>TCA2578694413SLC17A5c.979-60G>A (n.979-60G>A)
c.928-60G>A (n.928-60G>A)
c.781-60G>A (n.781-60G>A)
c.748-60G>A (n.748-60G>A)
c.1000-60G>A (n.1000-60G>A)
c.892-60G>A (n.892-60G>A)
c.820-60G>A (n.820-60G>A)
c.976-60G>A (n.976-60G>A)
c.661-60G>A (n.661-60G>A)
 gnomAD v4
6g.73615507_73615513delinsCATTCATCA1638231868SLC17A5c.979-66_979-60delinsATGAATG (n.979-66_979-60delinsATGAATG)
c.928-66_928-60delinsATGAATG (n.928-66_928-60delinsATGAATG)
c.781-66_781-60delinsATGAATG (n.781-66_781-60delinsATGAATG)
c.748-66_748-60delinsATGAATG (n.748-66_748-60delinsATGAATG)
c.1000-66_1000-60delinsATGAATG (n.1000-66_1000-60delinsATGAATG)
c.892-66_892-60delinsATGAATG (n.892-66_892-60delinsATGAATG)
c.820-66_820-60delinsATGAATG (n.820-66_820-60delinsATGAATG)
c.976-66_976-60delinsATGAATG (n.976-66_976-60delinsATGAATG)
c.661-66_661-60delinsATGAATG (n.661-66_661-60delinsATGAATG)
6g.73615508A>CCA2679403781SLC17A5c.979-61T>G (n.979-61T>G)
c.928-61T>G (n.928-61T>G)
c.781-61T>G (n.781-61T>G)
c.748-61T>G (n.748-61T>G)
c.1000-61T>G (n.1000-61T>G)
c.892-61T>G (n.892-61T>G)
c.820-61T>G (n.820-61T>G)
c.976-61T>G (n.976-61T>G)
c.661-61T>G (n.661-61T>G)
 gnomAD v4
6g.73615508_73615509delCA2771704869SLC17A5c.979-62_979-61del (n.979-62_979-61del)
c.928-62_928-61del (n.928-62_928-61del)
c.781-62_781-61del (n.781-62_781-61del)
c.748-62_748-61del (n.748-62_748-61del)
c.1000-62_1000-61del (n.1000-62_1000-61del)
c.892-62_892-61del (n.892-62_892-61del)
c.820-62_820-61del (n.820-62_820-61del)
c.976-62_976-61del (n.976-62_976-61del)
c.661-62_661-61del (n.661-62_661-61del)
6g.73615508_73615513delCA140958645SLC17A5c.979-66_979-61del (n.979-66_979-61del)
c.928-66_928-61del (n.928-66_928-61del)
c.781-66_781-61del (n.781-66_781-61del)
c.748-66_748-61del (n.748-66_748-61del)
c.1000-66_1000-61del (n.1000-66_1000-61del)
c.892-66_892-61del (n.892-66_892-61del)
c.820-66_820-61del (n.820-66_820-61del)
c.976-66_976-61del (n.976-66_976-61del)
c.661-66_661-61del (n.661-66_661-61del)
 dbSNP
6g.73615509T>CCA2679403782SLC17A5c.979-62A>G (n.979-62A>G)
c.928-62A>G (n.928-62A>G)
c.781-62A>G (n.781-62A>G)
c.748-62A>G (n.748-62A>G)
c.1000-62A>G (n.1000-62A>G)
c.892-62A>G (n.892-62A>G)
c.820-62A>G (n.820-62A>G)
c.976-62A>G (n.976-62A>G)
c.661-62A>G (n.661-62A>G)
 gnomAD v4

Number of alleles fetched