Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.73615409_73615412del | CA2679403761 | SLC17A5 | c.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 |
6 | g.73615410C>A | CA364712354 | SLC17A5 | c.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) | |
6 | g.73615410C= | CA1638231823 | SLC17A5 | c.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=) | |
6 | g.73615410C>G | CA364712355 | SLC17A5 | c.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) | |
6 | g.73615410C>T | CA16041080 | SLC17A5 | c.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 |
6 | g.73615411A>C | CA364712356 | SLC17A5 | c.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) | |
6 | g.73615411A>G | CA364712357 | SLC17A5 | c.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) | |
6 | g.73615411A>T | CA364712358 | SLC17A5 | c.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) | |
6 | g.73615412A>C | CA450910070 | SLC17A5 | c.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=) | |
6 | g.73615412A>G | CA450910071 | SLC17A5 | c.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=) | |
6 | g.73615412A>T | CA450910072 | SLC17A5 | c.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=) | |
6 | g.73615413G>A | CA364712359 | SLC17A5 | c.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) | |
6 | g.73615413G>C | CA364712360 | SLC17A5 | c.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) | |
6 | g.73615413G>T | CA364712361 | SLC17A5 | c.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) | |
6 | g.73615414A>C | CA364712364 | SLC17A5 | c.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) | |
6 | g.73615414A>G | CA364712363 | SLC17A5 | c.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) | |
6 | g.73615414A>T | CA364712362 | SLC17A5 | c.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) | |
6 | g.73615415G>A | CA140958567 | SLC17A5 | c.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 |
6 | g.73615415G>C | CA450910073 | SLC17A5 | c.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=) | |
6 | g.73615415G= | CA1638231824 | SLC17A5 | c.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=) | |
6 | g.73615415G>T | CA450910074 | SLC17A5 | c.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=) | |
6 | g.73615416C>A | CA364712367 | SLC17A5 | c.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 |
6 | g.73615416C>G | CA364712365 | SLC17A5 | c.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) | |
6 | g.73615416C>T | CA364712366 | SLC17A5 | c.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) | |
6 | g.73615417C>A | CA364712368 | SLC17A5 | c.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) | |
6 | g.73615417C>G | CA364712369 | SLC17A5 | c.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) | |
6 | g.73615417C>T | CA364712370 | SLC17A5 | c.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) | |
6 | g.73615417_73615419delinsCTA | CA1638231825 | SLC17A5 | c.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=) | |
6 | g.73615418T>A | CA364712371 | SLC17A5 | c.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) | |
6 | g.73615418T>C | CA450910075 | SLC17A5 | c.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 |
6 | g.73615418T>G | CA364712372 | SLC17A5 | c.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) | |
6 | g.73615418_73615419del | CA263919 | SLC17A5 | c.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 |
6 | g.73615419A>C | CA364712373 | SLC17A5 | c.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) | |
6 | g.73615419A>G | CA364712374 | SLC17A5 | c.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) | |
6 | g.73615419A>T | CA364712375 | SLC17A5 | c.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) | |
6 | g.73615420A>C | CA364712377 | SLC17A5 | c.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) | |
6 | g.73615420A>G | CA450910076 | SLC17A5 | c.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=) | |
6 | g.73615420A>T | CA364712376 | SLC17A5 | c.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) | |
6 | g.73615421A>C | CA364712378 | SLC17A5 | c.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) | |
6 | g.73615421A>G | CA450910077 | SLC17A5 | c.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=) | |
6 | g.73615421A>T | CA364712379 | SLC17A5 | c.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) | |
6 | g.73615422T>A | CA364712380 | SLC17A5 | c.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) | |
6 | g.73615422T>C | CA364712381 | SLC17A5 | c.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 |
6 | g.73615422T>G | CA364712382 | SLC17A5 | c.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) | |
6 | g.73615423A>C | CA364712383 | SLC17A5 | c.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) | |
6 | g.73615423A>G | CA364712384 | SLC17A5 | c.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 |
6 | g.73615423A>T | CA364712385 | SLC17A5 | c.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) | |
6 | g.73615424A= | CA1638231826 | SLC17A5 | c.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=) | |
6 | g.73615424A>C | CA450910078 | SLC17A5 | c.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=) | |
6 | g.73615424A>G | CA3890366 | SLC17A5 | c.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 |
6 | g.73615424A>T | CA450910079 | SLC17A5 | c.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=) | |
6 | g.73615425G>A | CA364712386 | SLC17A5 | c.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 |
6 | g.73615425G>C | CA253539 | SLC17A5 | c.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 |
6 | g.73615425G= | CA1638231827 | SLC17A5 | c.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=) | |
6 | g.73615425G>T | CA364712387 | SLC17A5 | c.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) | |
6 | g.73615426G>A | CA364712389 | SLC17A5 | c.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 |
6 | g.73615426G>C | CA364712390 | SLC17A5 | c.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) | |
6 | g.73615426G= | CA1638231828 | SLC17A5 | c.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=) | |
6 | g.73615426G>T | CA364712388 | SLC17A5 | c.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 |
6 | g.73615427C>A | CA364712391 | SLC17A5 | c.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) | |
6 | g.73615427C= | CA1638231830 | SLC17A5 | c.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=) | |
6 | g.73615427C>G | CA364712392 | SLC17A5 | c.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) | |
6 | g.73615427C>T | CA450910080 | SLC17A5 | c.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 |
6 | g.73615427_73615428delinsCA | CA1638231829 | SLC17A5 | c.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=) | |
6 | g.73615428A>C | CA364712393 | SLC17A5 | c.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) | |
6 | g.73615428A>G | CA364712394 | SLC17A5 | c.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) | |
6 | g.73615428A>T | CA364712395 | SLC17A5 | c.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) | |
6 | g.73615429del | CA3890367 | SLC17A5 | c.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 |
6 | g.73615429A>C | CA364712397 | SLC17A5 | c.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) | |
6 | g.73615429A>G | CA450910081 | SLC17A5 | c.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=) | |
6 | g.73615429A>T | CA364712396 | SLC17A5 | c.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) | |
6 | g.73615430T>A | CA450910084 | SLC17A5 | c.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=) | |
6 | g.73615430T>C | CA450910083 | SLC17A5 | c.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=) | |
6 | g.73615430T>G | CA450910082 | SLC17A5 | c.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=) | |
6 | g.73615431G>A | CA364712398 | SLC17A5 | c.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 |
6 | g.73615431G>C | CA364712399 | SLC17A5 | c.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) | |
6 | g.73615431G>T | CA364712400 | SLC17A5 | c.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) | |
6 | g.73615431_73615434delinsAT | CA2580075769 | SLC17A5 | c.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 |
6 | g.73615432A>C | CA364712401 | SLC17A5 | c.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) | |
6 | g.73615432A>G | CA364712402 | SLC17A5 | c.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) | |
6 | g.73615432A>T | CA364712403 | SLC17A5 | c.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) | |
6 | g.73615433del | CA2697553543 | SLC17A5 | c.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 |
6 | g.73615433A>C | CA450910085 | SLC17A5 | c.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=) | |
6 | g.73615433A>G | CA450910086 | SLC17A5 | c.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 |
6 | g.73615433A>T | CA450910087 | SLC17A5 | c.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=) | |
6 | g.73615434G>A | CA364712404 | SLC17A5 | c.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) | |
6 | g.73615434G>C | CA364712406 | SLC17A5 | c.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 |
6 | g.73615434G= | CA1638231831 | SLC17A5 | c.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=) | |
6 | g.73615434G>T | CA364712405 | SLC17A5 | c.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) | |
6 | g.73615435A= | CA1638231832 | SLC17A5 | c.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=) | |
6 | g.73615435A>C | CA364712407 | SLC17A5 | c.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) | |
6 | g.73615435A>G | CA364712408 | SLC17A5 | c.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) | |
6 | g.73615435A>T | CA364712409 | SLC17A5 | c.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) | |
6 | g.73615436T>A | CA364712410 | SLC17A5 | c.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) | |
6 | g.73615436T>C | CA140958576 | SLC17A5 | c.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 |
6 | g.73615436T>G | CA364712411 | SLC17A5 | c.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) | |
6 | g.73615436T= | CA1638231833 | SLC17A5 | c.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=) | |
6 | g.73615436dup | CA567681999 | SLC17A5 | c.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 |
6 | g.73615437A>C | CA364712412 | SLC17A5 | c.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) | |
6 | g.73615437A>G | CA364712413 | SLC17A5 | c.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) | |
6 | g.73615437A>T | CA364712414 | SLC17A5 | c.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) | |
6 | g.73615438A>C | CA364712415 | SLC17A5 | c.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) | |
6 | g.73615438A>G | CA450910088 | SLC17A5 | c.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=) | |
6 | g.73615438A>T | CA364712416 | SLC17A5 | c.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) | |
6 | g.73615439A>C | CA364712417 | SLC17A5 | c.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) | |
6 | g.73615439A>G | CA450910089 | SLC17A5 | c.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=) | |
6 | g.73615439A>T | CA364712418 | SLC17A5 | c.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) | |
6 | g.73615440A>C | CA364712420 | SLC17A5 | c.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) | |
6 | g.73615440A>G | CA364712421 | SLC17A5 | c.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) | |
6 | g.73615440A>T | CA364712419 | SLC17A5 | c.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) | |
6 | g.73615441A>C | CA364712423 | SLC17A5 | c.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) | |
6 | g.73615441A>G | CA364712422 | SLC17A5 | c.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 |
6 | g.73615441A>T | CA364712424 | SLC17A5 | c.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) | |
6 | g.73615442C>A | CA450910090 | SLC17A5 | c.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=) | |
6 | g.73615442C>G | CA450910091 | SLC17A5 | c.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=) | |
6 | g.73615442C>T | CA450910092 | SLC17A5 | c.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=) | |
6 | g.73615443C>A | CA364712425 | SLC17A5 | c.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) | |
6 | g.73615443C= | CA1638231834 | SLC17A5 | c.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=) | |
6 | g.73615443C>G | CA364712426 | SLC17A5 | c.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) | |
6 | g.73615443C>T | CA263933 | SLC17A5 | c.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 |
6 | g.73615444C>A | CA364712427 | SLC17A5 | c.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) | |
6 | g.73615444C>G | CA364712428 | SLC17A5 | c.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) | |
6 | g.73615444C>T | CA364712429 | SLC17A5 | c.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) | |
6 | g.73615445A>C | CA364712430 | SLC17A5 | c.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) | |
6 | g.73615445A>G | CA450910093 | SLC17A5 | c.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=) | |
6 | g.73615445A>T | CA364712431 | SLC17A5 | c.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) | |
6 | g.73615446T>A | CA364712432 | SLC17A5 | c.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) | |
6 | g.73615446T>C | CA364712433 | SLC17A5 | c.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 |
6 | g.73615446T>G | CA364712434 | SLC17A5 | c.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) | |
6 | g.73615446T= | CA1638231835 | SLC17A5 | c.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=) | |
6 | g.73615447T>A | CA364712435 | SLC17A5 | c.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) | |
6 | g.73615447T>C | CA364712436 | SLC17A5 | c.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) | |
6 | g.73615447T>G | CA364712437 | SLC17A5 | c.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) | |
6 | g.73615448C>A | CA364712440 | SLC17A5 | c.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 |
6 | g.73615448C>G | CA364712439 | SLC17A5 | c.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 |
6 | g.73615448C>T | CA364712438 | SLC17A5 | c.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) | |
6 | g.73615449T>A | CA364712441 | SLC17A5 | c.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) | |
6 | g.73615449T>C | CA364712442 | SLC17A5 | c.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 |
6 | g.73615449T>G | CA364712443 | SLC17A5 | c.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) | |
6 | g.73615449T= | CA1638231836 | SLC17A5 | c.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=) | |
6 | g.73615451G= | CA1638231837 | SLC17A5 | c.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=) | |
6 | g.73615451G>T | CA1638231838 | SLC17A5 | c.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 |
6 | g.73615454G>A | CA567682000 | SLC17A5 | c.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 |
6 | g.73615454G= | CA1638231839 | SLC17A5 | c.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=) | |
6 | g.73615455G>C | CA567682001 | SLC17A5 | c.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 |
6 | g.73615455G= | CA1638231840 | SLC17A5 | c.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=) | |
6 | g.73615456A= | CA1638231841 | SLC17A5 | c.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=) | |
6 | g.73615456A>C | CA1638231842 | SLC17A5 | c.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 |
6 | g.73615457A>G | CA2739273239 | SLC17A5 | c.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 |
6 | g.73615458T>C | CA2679403762 | SLC17A5 | c.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 |
6 | g.73615459A>G | CA2739273240 | SLC17A5 | c.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 |
6 | g.73615463_73615465del | CA2679403763 | SLC17A5 | c.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 |
6 | g.73615463A>G | CA2679403765 | SLC17A5 | c.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 |
6 | g.73615463A>T | CA2679403764 | SLC17A5 | c.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 |
6 | g.73615464G>C | CA827960994 | SLC17A5 | c.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 |
6 | g.73615464G= | CA1638231843 | SLC17A5 | c.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=) | |
6 | g.73615464G>T | CA567682002 | SLC17A5 | c.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 |
6 | g.73615466T>C | CA2679403766 | SLC17A5 | c.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 |
6 | g.73615467A>G | CA2679403767 | SLC17A5 | c.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 |
6 | g.73615468C= | CA1638231844 | SLC17A5 | c.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=) | |
6 | g.73615468C>T | CA3890368 | SLC17A5 | c.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 |
6 | g.73615469A>G | CA2578694411 | SLC17A5 | c.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) | |
6 | g.73615470G= | CA1638231845 | SLC17A5 | c.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=) | |
6 | g.73615470G>T | CA827960998 | SLC17A5 | c.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 |
6 | g.73615471G= | CA1638231846 | SLC17A5 | c.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=) | |
6 | g.73615471G>T | CA567682003 | SLC17A5 | c.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 |
6 | g.73615471_73615474del | CA2679403768 | SLC17A5 | c.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 |
6 | g.73615476A>G | CA2679403769 | SLC17A5 | c.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 |
6 | g.73615476_73615477delinsAT | CA1638231847 | SLC17A5 | c.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) | |
6 | g.73615478del | CA1638231848 | SLC17A5 | c.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 |
6 | g.73615478T>C | CA3890369 | SLC17A5 | c.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 |
6 | g.73615478T= | CA1638231849 | SLC17A5 | c.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=) | |
6 | g.73615480C>A | CA2581592301 | SLC17A5 | c.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) | |
6 | g.73615480C= | CA1638231850 | SLC17A5 | c.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=) | |
6 | g.73615480C>G | CA2581592302 | SLC17A5 | c.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) | |
6 | g.73615480C>T | CA3890370 | SLC17A5 | c.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 |
6 | g.73615480_73615481insT | CA650448929 | SLC17A5 | c.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) | |
6 | g.73615481G>A | CA3890371 | SLC17A5 | c.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 |
6 | g.73615481G= | CA1638231851 | SLC17A5 | c.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=) | |
6 | g.73615482G>A | CA2679403770 | SLC17A5 | c.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 |
6 | g.73615484G>A | CA2679403771 | SLC17A5 | c.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 |
6 | g.73615485A= | CA1638231852 | SLC17A5 | c.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=) | |
6 | g.73615485A>C | CA1638231853 | SLC17A5 | c.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 |
6 | g.73615485A>G | CA2679403772 | SLC17A5 | c.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 |
6 | g.73615486G>C | CA1090517810 | SLC17A5 | c.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 |
6 | g.73615486G= | CA1638231854 | SLC17A5 | c.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=) | |
6 | g.73615486_73615487delinsGA | CA1638231855 | SLC17A5 | c.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) | |
6 | g.73615487del | CA1638231856 | SLC17A5 | c.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 |
6 | g.73615488G>A | CA1638231859 | SLC17A5 | c.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 |
6 | g.73615488G= | CA1638231858 | SLC17A5 | c.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=) | |
6 | g.73615488_73615489delinsGA | CA1638231857 | SLC17A5 | c.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) | |
6 | g.73615495dup | CA3890372 | SLC17A5 | c.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 |
6 | g.73615495del | CA917781196 | SLC17A5 | c.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 |
6 | g.73615490A= | CA1638231861 | SLC17A5 | c.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=) | |
6 | g.73615490A>C | CA827961011 | SLC17A5 | c.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 |
6 | g.73615490A>G | CA1638231860 | SLC17A5 | c.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 |
6 | g.73615491A>C | CA2679403773 | SLC17A5 | c.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 |
6 | g.73615495A= | CA1638231862 | SLC17A5 | c.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=) | |
6 | g.73615495A>C | CA1638231863 | SLC17A5 | c.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 |
6 | g.73615496C= | CA1638231864 | SLC17A5 | c.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=) | |
6 | g.73615496C>T | CA1638231865 | SLC17A5 | c.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 |
6 | g.73615497A>C | CA2771704865 | SLC17A5 | c.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) | |
6 | g.73615499_73615500del | CA2679403774 | SLC17A5 | c.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 |
6 | g.73615497_73615498insCC | CA2771704866 | SLC17A5 | c.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) | |
6 | g.73615499_73615502del | CA2578694412 | SLC17A5 | c.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 |
6 | g.73615499A= | CA1638231866 | SLC17A5 | c.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=) | |
6 | g.73615499_73615500insGTGTGTTTCCC | CA3890373 | SLC17A5 | c.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 |
6 | g.73615499_73615500insGTGTGTTTCCCACTTTT | CA567682004 | SLC17A5 | c.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 |
6 | g.73615500A>C | CA2771704867 | SLC17A5 | c.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) | |
6 | g.73615502A>C | CA2679403776 | SLC17A5 | c.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 |
6 | g.73615503_73615504del | CA2679403775 | SLC17A5 | c.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 |
6 | g.73615503T>A | CA2771704868 | SLC17A5 | c.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) | |
6 | g.73615503T>C | CA1090517814 | SLC17A5 | c.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 |
6 | g.73615503T= | CA1638231867 | SLC17A5 | c.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=) | |
6 | g.73615504A>C | CA2679403777 | SLC17A5 | c.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 |
6 | g.73615505C>A | CA2679403778 | SLC17A5 | c.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 |
6 | g.73615505C>T | CA2679403779 | SLC17A5 | c.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 |
6 | g.73615506A>C | CA2679403780 | SLC17A5 | c.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 |
6 | g.73615507C>T | CA2578694413 | SLC17A5 | c.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 |
6 | g.73615507_73615513delinsCATTCAT | CA1638231868 | SLC17A5 | c.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) | |
6 | g.73615508A>C | CA2679403781 | SLC17A5 | c.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 |
6 | g.73615508_73615509del | CA2771704869 | SLC17A5 | c.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) | |
6 | g.73615508_73615513del | CA140958645 | SLC17A5 | c.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 |
6 | g.73615509T>C | CA2679403782 | SLC17A5 | c.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 |
6 | g.73615510T>C | CA2679403783 | SLC17A5 | c.979-63A>G (n.979-63A>G) c.928-63A>G (n.928-63A>G) c.781-63A>G (n.781-63A>G) c.748-63A>G (n.748-63A>G) c.1000-63A>G (n.1000-63A>G) c.892-63A>G (n.892-63A>G) c.820-63A>G (n.820-63A>G) c.976-63A>G (n.976-63A>G) c.661-63A>G (n.661-63A>G) | gnomAD v4 |