Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.128398491C>A | CA369168598 | IMPDH1 | c.889G>T (p.Ala297Ser) n.872G>T c.997G>T (p.Ala333Ser) c.629G>T c.967G>T (p.Ala323Ser) c.898G>T (p.Ala300Ser) n.586G>T c.762G>T c.739G>T (p.Ala247Ser) c.727G>T (p.Ala243Ser) c.872G>T (n.872G>T) c.667G>T (p.Ala223Ser) c.790G>T (p.Ala264Ser) c.742G>T (p.Ala248Ser) c.766G>T (p.Ala256Ser) c.379G>T (p.Ala127Ser) | dbSNP gnomAD v4 |
7 | g.128398491C= | CA1742328017 | IMPDH1 | c.889G= (p.Ala297=) n.872G= c.997G= (p.Ala333=) c.629G= c.967G= (p.Ala323=) c.898G= (p.Ala300=) n.586G= c.762G= c.739G= (p.Ala247=) c.727G= (p.Ala243=) c.872G= (n.872G=) c.667G= (p.Ala223=) c.790G= (p.Ala264=) c.742G= (p.Ala248=) c.766G= (p.Ala256=) c.379G= (p.Ala127=) | |
7 | g.128398491C>G | CA369168609 | IMPDH1 | c.889G>C (p.Ala297Pro) n.872G>C c.997G>C (p.Ala333Pro) c.629G>C c.967G>C (p.Ala323Pro) c.898G>C (p.Ala300Pro) n.586G>C c.762G>C c.739G>C (p.Ala247Pro) c.727G>C (p.Ala243Pro) c.872G>C (n.872G>C) c.667G>C (p.Ala223Pro) c.790G>C (p.Ala264Pro) c.742G>C (p.Ala248Pro) c.766G>C (p.Ala256Pro) c.379G>C (p.Ala127Pro) | |
7 | g.128398491C>T | CA369168613 | IMPDH1 | c.889G>A (p.Ala297Thr) n.872G>A c.997G>A (p.Ala333Thr) c.629G>A c.967G>A (p.Ala323Thr) c.898G>A (p.Ala300Thr) n.586G>A c.762G>A c.739G>A (p.Ala247Thr) c.727G>A (p.Ala243Thr) c.872G>A (n.872G>A) c.667G>A (p.Ala223Thr) c.790G>A (p.Ala264Thr) c.742G>A (p.Ala248Thr) c.766G>A (p.Ala256Thr) c.379G>A (p.Ala127Thr) | |
7 | g.128398492C>A | CA457528261 | IMPDH1 | c.888G>T (p.Gly296=) n.871G>T c.996G>T (p.Gly332=) c.628G>T c.966G>T (p.Gly322=) c.897G>T (p.Gly299=) n.585G>T c.761G>T c.738G>T (p.Gly246=) c.726G>T (p.Gly242=) c.871G>T (n.871G>T) c.666G>T (p.Gly222=) c.789G>T (p.Gly263=) c.741G>T (p.Gly247=) c.765G>T (p.Gly255=) c.378G>T (p.Gly126=) | |
7 | g.128398492C>G | CA457528260 | IMPDH1 | c.888G>C (p.Gly296=) n.871G>C c.996G>C (p.Gly332=) c.628G>C c.966G>C (p.Gly322=) c.897G>C (p.Gly299=) n.585G>C c.761G>C c.738G>C (p.Gly246=) c.726G>C (p.Gly242=) c.871G>C (n.871G>C) c.666G>C (p.Gly222=) c.789G>C (p.Gly263=) c.741G>C (p.Gly247=) c.765G>C (p.Gly255=) c.378G>C (p.Gly126=) | |
7 | g.128398492C>T | CA457528259 | IMPDH1 | c.888G>A (p.Gly296=) n.871G>A c.996G>A (p.Gly332=) c.628G>A c.966G>A (p.Gly322=) c.897G>A (p.Gly299=) n.585G>A c.761G>A c.738G>A (p.Gly246=) c.726G>A (p.Gly242=) c.871G>A (n.871G>A) c.666G>A (p.Gly222=) c.789G>A (p.Gly263=) c.741G>A (p.Gly247=) c.765G>A (p.Gly255=) c.378G>A (p.Gly126=) | |
7 | g.128398493C>A | CA369168625 | IMPDH1 | c.887G>T (p.Gly296Val) n.870G>T c.995G>T (p.Gly332Val) c.627G>T c.965G>T (p.Gly322Val) c.896G>T (p.Gly299Val) n.584G>T c.760G>T c.737G>T (p.Gly246Val) c.725G>T (p.Gly242Val) c.870G>T (n.870G>T) c.665G>T (p.Gly222Val) c.788G>T (p.Gly263Val) c.740G>T (p.Gly247Val) c.764G>T (p.Gly255Val) c.377G>T (p.Gly126Val) | |
7 | g.128398493C>G | CA369168642 | IMPDH1 | c.887G>C (p.Gly296Ala) n.870G>C c.995G>C (p.Gly332Ala) c.627G>C c.965G>C (p.Gly322Ala) c.896G>C (p.Gly299Ala) n.584G>C c.760G>C c.737G>C (p.Gly246Ala) c.725G>C (p.Gly242Ala) c.870G>C (n.870G>C) c.665G>C (p.Gly222Ala) c.788G>C (p.Gly263Ala) c.740G>C (p.Gly247Ala) c.764G>C (p.Gly255Ala) c.377G>C (p.Gly126Ala) | |
7 | g.128398493C>T | CA369168645 | IMPDH1 | c.887G>A (p.Gly296Glu) n.870G>A c.995G>A (p.Gly332Glu) c.627G>A c.965G>A (p.Gly322Glu) c.896G>A (p.Gly299Glu) n.584G>A c.760G>A c.737G>A (p.Gly246Glu) c.725G>A (p.Gly242Glu) c.870G>A (n.870G>A) c.665G>A (p.Gly222Glu) c.788G>A (p.Gly263Glu) c.740G>A (p.Gly247Glu) c.764G>A (p.Gly255Glu) c.377G>A (p.Gly126Glu) | |
7 | g.128398494C>A | CA369168649 | IMPDH1 | c.886G>T (p.Gly296Trp) n.869G>T c.994G>T (p.Gly332Trp) c.626G>T c.964G>T (p.Gly322Trp) c.895G>T (p.Gly299Trp) n.583G>T c.759G>T c.736G>T (p.Gly246Trp) c.724G>T (p.Gly242Trp) c.869G>T (n.869G>T) c.664G>T (p.Gly222Trp) c.787G>T (p.Gly263Trp) c.739G>T (p.Gly247Trp) c.763G>T (p.Gly255Trp) c.376G>T (p.Gly126Trp) | |
7 | g.128398494C>G | CA369168661 | IMPDH1 | c.886G>C (p.Gly296Arg) n.869G>C c.994G>C (p.Gly332Arg) c.626G>C c.964G>C (p.Gly322Arg) c.895G>C (p.Gly299Arg) n.583G>C c.759G>C c.736G>C (p.Gly246Arg) c.724G>C (p.Gly242Arg) c.869G>C (n.869G>C) c.664G>C (p.Gly222Arg) c.787G>C (p.Gly263Arg) c.739G>C (p.Gly247Arg) c.763G>C (p.Gly255Arg) c.376G>C (p.Gly126Arg) | |
7 | g.128398494C>T | CA369168667 | IMPDH1 | c.886G>A (p.Gly296Arg) n.869G>A c.994G>A (p.Gly332Arg) c.626G>A c.964G>A (p.Gly322Arg) c.895G>A (p.Gly299Arg) n.583G>A c.759G>A c.736G>A (p.Gly246Arg) c.724G>A (p.Gly242Arg) c.869G>A (n.869G>A) c.664G>A (p.Gly222Arg) c.787G>A (p.Gly263Arg) c.739G>A (p.Gly247Arg) c.763G>A (p.Gly255Arg) c.376G>A (p.Gly126Arg) | gnomAD v4 |
7 | g.128398495A>C | CA369168676 | IMPDH1 | c.885T>G (p.Cys295Trp) n.868T>G c.993T>G (p.Cys331Trp) c.625T>G c.963T>G (p.Cys321Trp) c.894T>G (p.Cys298Trp) n.582T>G c.758T>G c.735T>G (p.Cys245Trp) c.723T>G (p.Cys241Trp) c.868T>G (n.868T>G) c.663T>G (p.Cys221Trp) c.786T>G (p.Cys262Trp) c.738T>G (p.Cys246Trp) c.762T>G (p.Cys254Trp) c.375T>G (p.Cys125Trp) | |
7 | g.128398495A>G | CA457528263 | IMPDH1 | c.885T>C (p.Cys295=) n.868T>C c.993T>C (p.Cys331=) c.625T>C c.963T>C (p.Cys321=) c.894T>C (p.Cys298=) n.582T>C c.758T>C c.735T>C (p.Cys245=) c.723T>C (p.Cys241=) c.868T>C (n.868T>C) c.663T>C (p.Cys221=) c.786T>C (p.Cys262=) c.738T>C (p.Cys246=) c.762T>C (p.Cys254=) c.375T>C (p.Cys125=) | |
7 | g.128398495A>T | CA369168687 | IMPDH1 | c.885T>A (p.Cys295Ter) n.868T>A c.993T>A (p.Cys331Ter) c.625T>A c.963T>A (p.Cys321Ter) c.894T>A (p.Cys298Ter) n.582T>A c.758T>A c.735T>A (p.Cys245Ter) c.723T>A (p.Cys241Ter) c.868T>A (n.868T>A) c.663T>A (p.Cys221Ter) c.786T>A (p.Cys262Ter) c.738T>A (p.Cys246Ter) c.762T>A (p.Cys254Ter) c.375T>A (p.Cys125Ter) | |
7 | g.128398496C>A | CA369168702 | IMPDH1 | c.884G>T (p.Cys295Phe) n.867G>T c.992G>T (p.Cys331Phe) c.624G>T c.962G>T (p.Cys321Phe) c.893G>T (p.Cys298Phe) n.581G>T c.757G>T c.734G>T (p.Cys245Phe) c.722G>T (p.Cys241Phe) c.867G>T (n.867G>T) c.662G>T (p.Cys221Phe) c.785G>T (p.Cys262Phe) c.737G>T (p.Cys246Phe) c.761G>T (p.Cys254Phe) c.374G>T (p.Cys125Phe) | |
7 | g.128398496C>G | CA369168699 | IMPDH1 | c.884G>C (p.Cys295Ser) n.867G>C c.992G>C (p.Cys331Ser) c.624G>C c.962G>C (p.Cys321Ser) c.893G>C (p.Cys298Ser) n.581G>C c.757G>C c.734G>C (p.Cys245Ser) c.722G>C (p.Cys241Ser) c.867G>C (n.867G>C) c.662G>C (p.Cys221Ser) c.785G>C (p.Cys262Ser) c.737G>C (p.Cys246Ser) c.761G>C (p.Cys254Ser) c.374G>C (p.Cys125Ser) | ClinVar dbSNP |
7 | g.128398496C>T | CA369168692 | IMPDH1 | c.884G>A (p.Cys295Tyr) n.867G>A c.992G>A (p.Cys331Tyr) c.624G>A c.962G>A (p.Cys321Tyr) c.893G>A (p.Cys298Tyr) n.581G>A c.757G>A c.734G>A (p.Cys245Tyr) c.722G>A (p.Cys241Tyr) c.867G>A (n.867G>A) c.662G>A (p.Cys221Tyr) c.785G>A (p.Cys262Tyr) c.737G>A (p.Cys246Tyr) c.761G>A (p.Cys254Tyr) c.374G>A (p.Cys125Tyr) | gnomAD v4 |
7 | g.128398497A>C | CA369168707 | IMPDH1 | c.883T>G (p.Cys295Gly) n.866T>G c.991T>G (p.Cys331Gly) c.623T>G c.961T>G (p.Cys321Gly) c.892T>G (p.Cys298Gly) n.580T>G c.756T>G c.733T>G (p.Cys245Gly) c.721T>G (p.Cys241Gly) c.866T>G (n.866T>G) c.661T>G (p.Cys221Gly) c.784T>G (p.Cys262Gly) c.736T>G (p.Cys246Gly) c.760T>G (p.Cys254Gly) c.373T>G (p.Cys125Gly) | |
7 | g.128398497A>G | CA369168710 | IMPDH1 | c.883T>C (p.Cys295Arg) n.866T>C c.991T>C (p.Cys331Arg) c.623T>C c.961T>C (p.Cys321Arg) c.892T>C (p.Cys298Arg) n.580T>C c.756T>C c.733T>C (p.Cys245Arg) c.721T>C (p.Cys241Arg) c.866T>C (n.866T>C) c.661T>C (p.Cys221Arg) c.784T>C (p.Cys262Arg) c.736T>C (p.Cys246Arg) c.760T>C (p.Cys254Arg) c.373T>C (p.Cys125Arg) | |
7 | g.128398497A>T | CA369168712 | IMPDH1 | c.883T>A (p.Cys295Ser) n.866T>A c.991T>A (p.Cys331Ser) c.623T>A c.961T>A (p.Cys321Ser) c.892T>A (p.Cys298Ser) n.580T>A c.756T>A c.733T>A (p.Cys245Ser) c.721T>A (p.Cys241Ser) c.866T>A (n.866T>A) c.661T>A (p.Cys221Ser) c.784T>A (p.Cys262Ser) c.736T>A (p.Cys246Ser) c.760T>A (p.Cys254Ser) c.373T>A (p.Cys125Ser) | |
7 | g.128398498G>A | CA457528267 | IMPDH1 | c.882C>T (p.Leu294=) n.865C>T c.990C>T (p.Leu330=) c.622C>T c.960C>T (p.Leu320=) c.891C>T (p.Leu297=) n.579C>T c.755C>T c.732C>T (p.Leu244=) c.720C>T (p.Leu240=) c.865C>T (n.865C>T) c.660C>T (p.Leu220=) c.783C>T (p.Leu261=) c.735C>T (p.Leu245=) c.759C>T (p.Leu253=) c.372C>T (p.Leu124=) | |
7 | g.128398498G>C | CA457528268 | IMPDH1 | c.882C>G (p.Leu294=) n.865C>G c.990C>G (p.Leu330=) c.622C>G c.960C>G (p.Leu320=) c.891C>G (p.Leu297=) n.579C>G c.755C>G c.732C>G (p.Leu244=) c.720C>G (p.Leu240=) c.865C>G (n.865C>G) c.660C>G (p.Leu220=) c.783C>G (p.Leu261=) c.735C>G (p.Leu245=) c.759C>G (p.Leu253=) c.372C>G (p.Leu124=) | |
7 | g.128398498G= | CA1742328018 | IMPDH1 | c.882C= (p.Leu294=) n.865C= c.990C= (p.Leu330=) c.622C= c.960C= (p.Leu320=) c.891C= (p.Leu297=) n.579C= c.755C= c.732C= (p.Leu244=) c.720C= (p.Leu240=) c.865C= (n.865C=) c.660C= (p.Leu220=) c.783C= (p.Leu261=) c.735C= (p.Leu245=) c.759C= (p.Leu253=) c.372C= (p.Leu124=) | |
7 | g.128398498G>T | CA457528269 | IMPDH1 | c.882C>A (p.Leu294=) n.865C>A c.990C>A (p.Leu330=) c.622C>A c.960C>A (p.Leu320=) c.891C>A (p.Leu297=) n.579C>A c.755C>A c.732C>A (p.Leu244=) c.720C>A (p.Leu240=) c.865C>A (n.865C>A) c.660C>A (p.Leu220=) c.783C>A (p.Leu261=) c.735C>A (p.Leu245=) c.759C>A (p.Leu253=) c.372C>A (p.Leu124=) | |
7 | g.128398499A= | CA1742328029 | IMPDH1 | c.881T= (p.Leu294=) n.864T= c.989T= (p.Leu330=) c.621T= c.959T= (p.Leu320=) c.890T= (p.Leu297=) n.578T= c.754T= c.731T= (p.Leu244=) c.719T= (p.Leu240=) c.864T= (n.864T=) c.659T= (p.Leu220=) c.782T= (p.Leu261=) c.734T= (p.Leu245=) c.758T= (p.Leu253=) c.371T= (p.Leu124=) | |
7 | g.128398499A>C | CA369168716 | IMPDH1 | c.881T>G (p.Leu294Arg) n.864T>G c.989T>G (p.Leu330Arg) c.621T>G c.959T>G (p.Leu320Arg) c.890T>G (p.Leu297Arg) n.578T>G c.754T>G c.731T>G (p.Leu244Arg) c.719T>G (p.Leu240Arg) c.864T>G (n.864T>G) c.659T>G (p.Leu220Arg) c.782T>G (p.Leu261Arg) c.734T>G (p.Leu245Arg) c.758T>G (p.Leu253Arg) c.371T>G (p.Leu124Arg) | |
7 | g.128398499A>G | CA369168718 | IMPDH1 | c.881T>C (p.Leu294Pro) n.864T>C c.989T>C (p.Leu330Pro) c.621T>C c.959T>C (p.Leu320Pro) c.890T>C (p.Leu297Pro) n.578T>C c.754T>C c.731T>C (p.Leu244Pro) c.719T>C (p.Leu240Pro) c.864T>C (n.864T>C) c.659T>C (p.Leu220Pro) c.782T>C (p.Leu261Pro) c.734T>C (p.Leu245Pro) c.758T>C (p.Leu253Pro) c.371T>C (p.Leu124Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398499A>T | CA369168725 | IMPDH1 | c.881T>A (p.Leu294His) n.864T>A c.989T>A (p.Leu330His) c.621T>A c.959T>A (p.Leu320His) c.890T>A (p.Leu297His) n.578T>A c.754T>A c.731T>A (p.Leu244His) c.719T>A (p.Leu240His) c.864T>A (n.864T>A) c.659T>A (p.Leu220His) c.782T>A (p.Leu261His) c.734T>A (p.Leu245His) c.758T>A (p.Leu253His) c.371T>A (p.Leu124His) | |
7 | g.128398502_128398504dup | CA916082961 | IMPDH1 | c.879_881dup (p.Leu294_Cys295insLeu) n.862_864dup c.987_989dup (p.Leu330_Cys331insLeu) c.619_621dup c.957_959dup (p.Leu320_Cys321insLeu) c.888_890dup (p.Leu297_Cys298insLeu) n.576_578dup c.752_754dup c.729_731dup (p.Leu244_Cys245insLeu) c.717_719dup (p.Leu240_Cys241insLeu) c.862_864dup (n.862_864dup) c.657_659dup (p.Leu220_Cys221insLeu) c.780_782dup (p.Leu261_Cys262insLeu) c.732_734dup (p.Leu245_Cys246insLeu) c.756_758dup (p.Leu253_Cys254insLeu) c.369_371dup (p.Leu124_Cys125insLeu) | ClinVar dbSNP |
7 | g.128398500G>A | CA369168730 | IMPDH1 | c.880C>T (p.Leu294Phe) n.863C>T c.988C>T (p.Leu330Phe) c.620C>T c.958C>T (p.Leu320Phe) c.889C>T (p.Leu297Phe) n.577C>T c.753C>T c.730C>T (p.Leu244Phe) c.718C>T (p.Leu240Phe) c.863C>T (n.863C>T) c.658C>T (p.Leu220Phe) c.781C>T (p.Leu261Phe) c.733C>T (p.Leu245Phe) c.757C>T (p.Leu253Phe) c.370C>T (p.Leu124Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398500G>C | CA369168737 | IMPDH1 | c.880C>G (p.Leu294Val) n.863C>G c.988C>G (p.Leu330Val) c.620C>G c.958C>G (p.Leu320Val) c.889C>G (p.Leu297Val) n.577C>G c.753C>G c.730C>G (p.Leu244Val) c.718C>G (p.Leu240Val) c.863C>G (n.863C>G) c.658C>G (p.Leu220Val) c.781C>G (p.Leu261Val) c.733C>G (p.Leu245Val) c.757C>G (p.Leu253Val) c.370C>G (p.Leu124Val) | |
7 | g.128398500G= | CA1742328049 | IMPDH1 | c.880C= (p.Leu294=) n.863C= c.988C= (p.Leu330=) c.620C= c.958C= (p.Leu320=) c.889C= (p.Leu297=) n.577C= c.753C= c.730C= (p.Leu244=) c.718C= (p.Leu240=) c.863C= (n.863C=) c.658C= (p.Leu220=) c.781C= (p.Leu261=) c.733C= (p.Leu245=) c.757C= (p.Leu253=) c.370C= (p.Leu124=) | |
7 | g.128398500G>T | CA369168741 | IMPDH1 | c.880C>A (p.Leu294Ile) n.863C>A c.988C>A (p.Leu330Ile) c.620C>A c.958C>A (p.Leu320Ile) c.889C>A (p.Leu297Ile) n.577C>A c.753C>A c.730C>A (p.Leu244Ile) c.718C>A (p.Leu240Ile) c.863C>A (n.863C>A) c.658C>A (p.Leu220Ile) c.781C>A (p.Leu261Ile) c.733C>A (p.Leu245Ile) c.757C>A (p.Leu253Ile) c.370C>A (p.Leu124Ile) | |
7 | g.128398500_128398501delinsCG | CA2739278929 | IMPDH1 | c.879_880delinsCG (p.Leu294Val) n.862_863delinsCG c.987_988delinsCG (p.Leu330Val) c.619_620delinsCG c.957_958delinsCG (p.Leu320Val) c.888_889delinsCG (p.Leu297Val) n.576_577delinsCG c.752_753delinsCG c.729_730delinsCG (p.Leu244Val) c.717_718delinsCG (p.Leu240Val) c.862_863delinsCG (n.862_863delinsCG) c.657_658delinsCG (p.Leu220Val) c.780_781delinsCG (p.Leu261Val) c.732_733delinsCG (p.Leu245Val) c.756_757delinsCG (p.Leu253Val) c.369_370delinsCG (p.Leu124Val) | ClinVar |
7 | g.128398501C>A | CA457528273 | IMPDH1 | c.879G>T (p.Leu293=) n.862G>T c.987G>T (p.Leu329=) c.619G>T c.957G>T (p.Leu319=) c.888G>T (p.Leu296=) n.576G>T c.752G>T c.729G>T (p.Leu243=) c.717G>T (p.Leu239=) c.862G>T (n.862G>T) c.657G>T (p.Leu219=) c.780G>T (p.Leu260=) c.732G>T (p.Leu244=) c.756G>T (p.Leu252=) c.369G>T (p.Leu123=) | |
7 | g.128398501C= | CA1742328056 | IMPDH1 | c.879G= (p.Leu293=) n.862G= c.987G= (p.Leu329=) c.619G= c.957G= (p.Leu319=) c.888G= (p.Leu296=) n.576G= c.752G= c.729G= (p.Leu243=) c.717G= (p.Leu239=) c.862G= (n.862G=) c.657G= (p.Leu219=) c.780G= (p.Leu260=) c.732G= (p.Leu244=) c.756G= (p.Leu252=) c.369G= (p.Leu123=) | |
7 | g.128398501C>G | CA4470981 | IMPDH1 | c.879G>C (p.Leu293=) n.862G>C c.987G>C (p.Leu329=) c.619G>C c.957G>C (p.Leu319=) c.888G>C (p.Leu296=) n.576G>C c.752G>C c.729G>C (p.Leu243=) c.717G>C (p.Leu239=) c.862G>C (n.862G>C) c.657G>C (p.Leu219=) c.780G>C (p.Leu260=) c.732G>C (p.Leu244=) c.756G>C (p.Leu252=) c.369G>C (p.Leu123=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398501C>T | CA457528274 | IMPDH1 | c.879G>A (p.Leu293=) n.862G>A c.987G>A (p.Leu329=) c.619G>A c.957G>A (p.Leu319=) c.888G>A (p.Leu296=) n.576G>A c.752G>A c.729G>A (p.Leu243=) c.717G>A (p.Leu239=) c.862G>A (n.862G>A) c.657G>A (p.Leu219=) c.780G>A (p.Leu260=) c.732G>A (p.Leu244=) c.756G>A (p.Leu252=) c.369G>A (p.Leu123=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398502A>C | CA369168746 | IMPDH1 | c.878T>G (p.Leu293Arg) n.861T>G c.986T>G (p.Leu329Arg) c.618T>G c.956T>G (p.Leu319Arg) c.887T>G (p.Leu296Arg) n.575T>G c.751T>G c.728T>G (p.Leu243Arg) c.716T>G (p.Leu239Arg) c.861T>G (n.861T>G) c.656T>G (p.Leu219Arg) c.779T>G (p.Leu260Arg) c.731T>G (p.Leu244Arg) c.755T>G (p.Leu252Arg) c.368T>G (p.Leu123Arg) | |
7 | g.128398502A>G | CA369168749 | IMPDH1 | c.878T>C (p.Leu293Pro) n.861T>C c.986T>C (p.Leu329Pro) c.618T>C c.956T>C (p.Leu319Pro) c.887T>C (p.Leu296Pro) n.575T>C c.751T>C c.728T>C (p.Leu243Pro) c.716T>C (p.Leu239Pro) c.861T>C (n.861T>C) c.656T>C (p.Leu219Pro) c.779T>C (p.Leu260Pro) c.731T>C (p.Leu244Pro) c.755T>C (p.Leu252Pro) c.368T>C (p.Leu123Pro) | |
7 | g.128398502A>T | CA369168750 | IMPDH1 | c.878T>A (p.Leu293Gln) n.861T>A c.986T>A (p.Leu329Gln) c.618T>A c.956T>A (p.Leu319Gln) c.887T>A (p.Leu296Gln) n.575T>A c.751T>A c.728T>A (p.Leu243Gln) c.716T>A (p.Leu239Gln) c.861T>A (n.861T>A) c.656T>A (p.Leu219Gln) c.779T>A (p.Leu260Gln) c.731T>A (p.Leu244Gln) c.755T>A (p.Leu252Gln) c.368T>A (p.Leu123Gln) | |
7 | g.128398503G>A | CA457528278 | IMPDH1 | c.877C>T (p.Leu293=) n.860C>T c.985C>T (p.Leu329=) c.617C>T c.955C>T (p.Leu319=) c.886C>T (p.Leu296=) n.574C>T c.750C>T c.727C>T (p.Leu243=) c.715C>T (p.Leu239=) c.860C>T (n.860C>T) c.655C>T (p.Leu219=) c.778C>T (p.Leu260=) c.730C>T (p.Leu244=) c.754C>T (p.Leu252=) c.367C>T (p.Leu123=) | ClinVar |
7 | g.128398503G>C | CA369168751 | IMPDH1 | c.877C>G (p.Leu293Val) n.860C>G c.985C>G (p.Leu329Val) c.617C>G c.955C>G (p.Leu319Val) c.886C>G (p.Leu296Val) n.574C>G c.750C>G c.727C>G (p.Leu243Val) c.715C>G (p.Leu239Val) c.860C>G (n.860C>G) c.655C>G (p.Leu219Val) c.778C>G (p.Leu260Val) c.730C>G (p.Leu244Val) c.754C>G (p.Leu252Val) c.367C>G (p.Leu123Val) | |
7 | g.128398503G>T | CA369168752 | IMPDH1 | c.877C>A (p.Leu293Met) n.860C>A c.985C>A (p.Leu329Met) c.617C>A c.955C>A (p.Leu319Met) c.886C>A (p.Leu296Met) n.574C>A c.750C>A c.727C>A (p.Leu243Met) c.715C>A (p.Leu239Met) c.860C>A (n.860C>A) c.655C>A (p.Leu219Met) c.778C>A (p.Leu260Met) c.730C>A (p.Leu244Met) c.754C>A (p.Leu252Met) c.367C>A (p.Leu123Met) | |
7 | g.128398504C>A | CA369168756 | IMPDH1 | c.876G>T (p.Gln292His) n.859G>T c.984G>T (p.Gln328His) c.616G>T c.954G>T (p.Gln318His) c.885G>T (p.Gln295His) n.573G>T c.749G>T c.726G>T (p.Gln242His) c.714G>T (p.Gln238His) c.859G>T (n.859G>T) c.654G>T (p.Gln218His) c.777G>T (p.Gln259His) c.729G>T (p.Gln243His) c.753G>T (p.Gln251His) c.366G>T (p.Gln122His) | ClinVar dbSNP |
7 | g.128398504C= | CA1742328073 | IMPDH1 | c.876G= (p.Gln292=) n.859G= c.984G= (p.Gln328=) c.616G= c.954G= (p.Gln318=) c.885G= (p.Gln295=) n.573G= c.749G= c.726G= (p.Gln242=) c.714G= (p.Gln238=) c.859G= (n.859G=) c.654G= (p.Gln218=) c.777G= (p.Gln259=) c.729G= (p.Gln243=) c.753G= (p.Gln251=) c.366G= (p.Gln122=) | |
7 | g.128398504C>G | CA10586358 | IMPDH1 | c.876G>C (p.Gln292His) n.859G>C c.984G>C (p.Gln328His) c.616G>C c.954G>C (p.Gln318His) c.885G>C (p.Gln295His) n.573G>C c.749G>C c.726G>C (p.Gln242His) c.714G>C (p.Gln238His) c.859G>C (n.859G>C) c.654G>C (p.Gln218His) c.777G>C (p.Gln259His) c.729G>C (p.Gln243His) c.753G>C (p.Gln251His) c.366G>C (p.Gln122His) | ClinVar dbSNP |
7 | g.128398504C>T | CA457528279 | IMPDH1 | c.876G>A (p.Gln292=) n.859G>A c.984G>A (p.Gln328=) c.616G>A c.954G>A (p.Gln318=) c.885G>A (p.Gln295=) n.573G>A c.749G>A c.726G>A (p.Gln242=) c.714G>A (p.Gln238=) c.859G>A (n.859G>A) c.654G>A (p.Gln218=) c.777G>A (p.Gln259=) c.729G>A (p.Gln243=) c.753G>A (p.Gln251=) c.366G>A (p.Gln122=) | |
7 | g.128398505T>A | CA369168767 | IMPDH1 | c.875A>T (p.Gln292Leu) n.858A>T c.983A>T (p.Gln328Leu) c.615A>T c.953A>T (p.Gln318Leu) c.884A>T (p.Gln295Leu) n.572A>T c.748A>T c.725A>T (p.Gln242Leu) c.713A>T (p.Gln238Leu) c.858A>T (n.858A>T) c.653A>T (p.Gln218Leu) c.776A>T (p.Gln259Leu) c.728A>T (p.Gln243Leu) c.752A>T (p.Gln251Leu) c.365A>T (p.Gln122Leu) | |
7 | g.128398505T>C | CA369168786 | IMPDH1 | c.875A>G (p.Gln292Arg) n.858A>G c.983A>G (p.Gln328Arg) c.615A>G c.953A>G (p.Gln318Arg) c.884A>G (p.Gln295Arg) n.572A>G c.748A>G c.725A>G (p.Gln242Arg) c.713A>G (p.Gln238Arg) c.858A>G (n.858A>G) c.653A>G (p.Gln218Arg) c.776A>G (p.Gln259Arg) c.728A>G (p.Gln243Arg) c.752A>G (p.Gln251Arg) c.365A>G (p.Gln122Arg) | |
7 | g.128398505T>G | CA369168789 | IMPDH1 | c.875A>C (p.Gln292Pro) n.858A>C c.983A>C (p.Gln328Pro) c.615A>C c.953A>C (p.Gln318Pro) c.884A>C (p.Gln295Pro) n.572A>C c.748A>C c.725A>C (p.Gln242Pro) c.713A>C (p.Gln238Pro) c.858A>C (n.858A>C) c.653A>C (p.Gln218Pro) c.776A>C (p.Gln259Pro) c.728A>C (p.Gln243Pro) c.752A>C (p.Gln251Pro) c.365A>C (p.Gln122Pro) | |
7 | g.128398506G>A | CA369168798 | IMPDH1 | c.874C>T (p.Gln292Ter) n.857C>T c.982C>T (p.Gln328Ter) c.614C>T c.952C>T (p.Gln318Ter) c.883C>T (p.Gln295Ter) n.571C>T c.747C>T c.724C>T (p.Gln242Ter) c.712C>T (p.Gln238Ter) c.857C>T (n.857C>T) c.652C>T (p.Gln218Ter) c.775C>T (p.Gln259Ter) c.727C>T (p.Gln243Ter) c.751C>T (p.Gln251Ter) c.364C>T (p.Gln122Ter) | |
7 | g.128398506G>C | CA369168803 | IMPDH1 | c.874C>G (p.Gln292Glu) n.857C>G c.982C>G (p.Gln328Glu) c.614C>G c.952C>G (p.Gln318Glu) c.883C>G (p.Gln295Glu) n.571C>G c.747C>G c.724C>G (p.Gln242Glu) c.712C>G (p.Gln238Glu) c.857C>G (n.857C>G) c.652C>G (p.Gln218Glu) c.775C>G (p.Gln259Glu) c.727C>G (p.Gln243Glu) c.751C>G (p.Gln251Glu) c.364C>G (p.Gln122Glu) | |
7 | g.128398506G>T | CA369168806 | IMPDH1 | c.874C>A (p.Gln292Lys) n.857C>A c.982C>A (p.Gln328Lys) c.614C>A c.952C>A (p.Gln318Lys) c.883C>A (p.Gln295Lys) n.571C>A c.747C>A c.724C>A (p.Gln242Lys) c.712C>A (p.Gln238Lys) c.857C>A (n.857C>A) c.652C>A (p.Gln218Lys) c.775C>A (p.Gln259Lys) c.727C>A (p.Gln243Lys) c.751C>A (p.Gln251Lys) c.364C>A (p.Gln122Lys) | |
7 | g.128398507C>A | CA369168812 | IMPDH1 | c.873G>T (p.Lys291Asn) n.856G>T c.981G>T (p.Lys327Asn) c.613G>T c.951G>T (p.Lys317Asn) c.882G>T (p.Lys294Asn) n.570G>T c.746G>T c.723G>T (p.Lys241Asn) c.711G>T (p.Lys237Asn) c.856G>T (n.856G>T) c.651G>T (p.Lys217Asn) c.774G>T (p.Lys258Asn) c.726G>T (p.Lys242Asn) c.750G>T (p.Lys250Asn) c.363G>T (p.Lys121Asn) | |
7 | g.128398507C>G | CA369168813 | IMPDH1 | c.873G>C (p.Lys291Asn) n.856G>C c.981G>C (p.Lys327Asn) c.613G>C c.951G>C (p.Lys317Asn) c.882G>C (p.Lys294Asn) n.570G>C c.746G>C c.723G>C (p.Lys241Asn) c.711G>C (p.Lys237Asn) c.856G>C (n.856G>C) c.651G>C (p.Lys217Asn) c.774G>C (p.Lys258Asn) c.726G>C (p.Lys242Asn) c.750G>C (p.Lys250Asn) c.363G>C (p.Lys121Asn) | |
7 | g.128398507C>T | CA457528283 | IMPDH1 | c.873G>A (p.Lys291=) n.856G>A c.981G>A (p.Lys327=) c.613G>A c.951G>A (p.Lys317=) c.882G>A (p.Lys294=) n.570G>A c.746G>A c.723G>A (p.Lys241=) c.711G>A (p.Lys237=) c.856G>A (n.856G>A) c.651G>A (p.Lys217=) c.774G>A (p.Lys258=) c.726G>A (p.Lys242=) c.750G>A (p.Lys250=) c.363G>A (p.Lys121=) | gnomAD v4 |
7 | g.128398508T>A | CA369168820 | IMPDH1 | c.872A>T (p.Lys291Met) n.855A>T c.980A>T (p.Lys327Met) c.612A>T c.950A>T (p.Lys317Met) c.881A>T (p.Lys294Met) n.569A>T c.745A>T c.722A>T (p.Lys241Met) c.710A>T (p.Lys237Met) c.855A>T (n.855A>T) c.650A>T (p.Lys217Met) c.773A>T (p.Lys258Met) c.725A>T (p.Lys242Met) c.749A>T (p.Lys250Met) c.362A>T (p.Lys121Met) | |
7 | g.128398508T>C | CA369168823 | IMPDH1 | c.872A>G (p.Lys291Arg) n.855A>G c.980A>G (p.Lys327Arg) c.612A>G c.950A>G (p.Lys317Arg) c.881A>G (p.Lys294Arg) n.569A>G c.745A>G c.722A>G (p.Lys241Arg) c.710A>G (p.Lys237Arg) c.855A>G (n.855A>G) c.650A>G (p.Lys217Arg) c.773A>G (p.Lys258Arg) c.725A>G (p.Lys242Arg) c.749A>G (p.Lys250Arg) c.362A>G (p.Lys121Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398508T>G | CA369168827 | IMPDH1 | c.872A>C (p.Lys291Thr) n.855A>C c.980A>C (p.Lys327Thr) c.612A>C c.950A>C (p.Lys317Thr) c.881A>C (p.Lys294Thr) n.569A>C c.745A>C c.722A>C (p.Lys241Thr) c.710A>C (p.Lys237Thr) c.855A>C (n.855A>C) c.650A>C (p.Lys217Thr) c.773A>C (p.Lys258Thr) c.725A>C (p.Lys242Thr) c.749A>C (p.Lys250Thr) c.362A>C (p.Lys121Thr) | |
7 | g.128398508T= | CA1742328082 | IMPDH1 | c.872A= (p.Lys291=) n.855A= c.980A= (p.Lys327=) c.612A= c.950A= (p.Lys317=) c.881A= (p.Lys294=) n.569A= c.745A= c.722A= (p.Lys241=) c.710A= (p.Lys237=) c.855A= (n.855A=) c.650A= (p.Lys217=) c.773A= (p.Lys258=) c.725A= (p.Lys242=) c.749A= (p.Lys250=) c.362A= (p.Lys121=) | |
7 | g.128398509T>A | CA369168835 | IMPDH1 | c.871A>T (p.Lys291Ter) n.854A>T c.979A>T (p.Lys327Ter) c.611A>T c.949A>T (p.Lys317Ter) c.880A>T (p.Lys294Ter) n.568A>T c.744A>T c.721A>T (p.Lys241Ter) c.709A>T (p.Lys237Ter) c.854A>T (n.854A>T) c.649A>T (p.Lys217Ter) c.772A>T (p.Lys258Ter) c.724A>T (p.Lys242Ter) c.748A>T (p.Lys250Ter) c.361A>T (p.Lys121Ter) | |
7 | g.128398509T>C | CA369168833 | IMPDH1 | c.871A>G (p.Lys291Glu) n.854A>G c.979A>G (p.Lys327Glu) c.611A>G c.949A>G (p.Lys317Glu) c.880A>G (p.Lys294Glu) n.568A>G c.744A>G c.721A>G (p.Lys241Glu) c.709A>G (p.Lys237Glu) c.854A>G (n.854A>G) c.649A>G (p.Lys217Glu) c.772A>G (p.Lys258Glu) c.724A>G (p.Lys242Glu) c.748A>G (p.Lys250Glu) c.361A>G (p.Lys121Glu) | |
7 | g.128398509T>G | CA369168834 | IMPDH1 | c.871A>C (p.Lys291Gln) n.854A>C c.979A>C (p.Lys327Gln) c.611A>C c.949A>C (p.Lys317Gln) c.880A>C (p.Lys294Gln) n.568A>C c.744A>C c.721A>C (p.Lys241Gln) c.709A>C (p.Lys237Gln) c.854A>C (n.854A>C) c.649A>C (p.Lys217Gln) c.772A>C (p.Lys258Gln) c.724A>C (p.Lys242Gln) c.748A>C (p.Lys250Gln) c.361A>C (p.Lys121Gln) | |
7 | g.128398510C>A | CA369168836 | IMPDH1 | c.870G>T (p.Gln290His) n.853G>T c.978G>T (p.Gln326His) c.610G>T c.948G>T (p.Gln316His) c.879G>T (p.Gln293His) n.567G>T c.743G>T c.720G>T (p.Gln240His) c.708G>T (p.Gln236His) c.853G>T (n.853G>T) c.648G>T (p.Gln216His) c.771G>T (p.Gln257His) c.723G>T (p.Gln241His) c.747G>T (p.Gln249His) c.360G>T (p.Gln120His) | |
7 | g.128398510C= | CA1742328095 | IMPDH1 | c.870G= (p.Gln290=) n.853G= c.978G= (p.Gln326=) c.610G= c.948G= (p.Gln316=) c.879G= (p.Gln293=) n.567G= c.743G= c.720G= (p.Gln240=) c.708G= (p.Gln236=) c.853G= (n.853G=) c.648G= (p.Gln216=) c.771G= (p.Gln257=) c.723G= (p.Gln241=) c.747G= (p.Gln249=) c.360G= (p.Gln120=) | |
7 | g.128398510C>G | CA369168838 | IMPDH1 | c.870G>C (p.Gln290His) n.853G>C c.978G>C (p.Gln326His) c.610G>C c.948G>C (p.Gln316His) c.879G>C (p.Gln293His) n.567G>C c.743G>C c.720G>C (p.Gln240His) c.708G>C (p.Gln236His) c.853G>C (n.853G>C) c.648G>C (p.Gln216His) c.771G>C (p.Gln257His) c.723G>C (p.Gln241His) c.747G>C (p.Gln249His) c.360G>C (p.Gln120His) | ClinVar dbSNP COSMIC COSMIC |
7 | g.128398510C>T | CA457528285 | IMPDH1 | c.870G>A (p.Gln290=) n.853G>A c.978G>A (p.Gln326=) c.610G>A c.948G>A (p.Gln316=) c.879G>A (p.Gln293=) n.567G>A c.743G>A c.720G>A (p.Gln240=) c.708G>A (p.Gln236=) c.853G>A (n.853G>A) c.648G>A (p.Gln216=) c.771G>A (p.Gln257=) c.723G>A (p.Gln241=) c.747G>A (p.Gln249=) c.360G>A (p.Gln120=) | |
7 | g.128398511T>A | CA369168848 | IMPDH1 | c.869A>T (p.Gln290Leu) n.852A>T c.977A>T (p.Gln326Leu) c.609A>T c.947A>T (p.Gln316Leu) c.878A>T (p.Gln293Leu) n.566A>T c.742A>T c.719A>T (p.Gln240Leu) c.707A>T (p.Gln236Leu) c.852A>T (n.852A>T) c.647A>T (p.Gln216Leu) c.770A>T (p.Gln257Leu) c.722A>T (p.Gln241Leu) c.746A>T (p.Gln249Leu) c.359A>T (p.Gln120Leu) | |
7 | g.128398511T>C | CA369168851 | IMPDH1 | c.869A>G (p.Gln290Arg) n.852A>G c.977A>G (p.Gln326Arg) c.609A>G c.947A>G (p.Gln316Arg) c.878A>G (p.Gln293Arg) n.566A>G c.742A>G c.719A>G (p.Gln240Arg) c.707A>G (p.Gln236Arg) c.852A>G (n.852A>G) c.647A>G (p.Gln216Arg) c.770A>G (p.Gln257Arg) c.722A>G (p.Gln241Arg) c.746A>G (p.Gln249Arg) c.359A>G (p.Gln120Arg) | |
7 | g.128398511T>G | CA369168854 | IMPDH1 | c.869A>C (p.Gln290Pro) n.852A>C c.977A>C (p.Gln326Pro) c.609A>C c.947A>C (p.Gln316Pro) c.878A>C (p.Gln293Pro) n.566A>C c.742A>C c.719A>C (p.Gln240Pro) c.707A>C (p.Gln236Pro) c.852A>C (n.852A>C) c.647A>C (p.Gln216Pro) c.770A>C (p.Gln257Pro) c.722A>C (p.Gln241Pro) c.746A>C (p.Gln249Pro) c.359A>C (p.Gln120Pro) | |
7 | g.128398512G>A | CA369168858 | IMPDH1 | c.868C>T (p.Gln290Ter) n.851C>T c.976C>T (p.Gln326Ter) c.608C>T c.946C>T (p.Gln316Ter) c.877C>T (p.Gln293Ter) n.565C>T c.741C>T c.718C>T (p.Gln240Ter) c.706C>T (p.Gln236Ter) c.851C>T (n.851C>T) c.646C>T (p.Gln216Ter) c.769C>T (p.Gln257Ter) c.721C>T (p.Gln241Ter) c.745C>T (p.Gln249Ter) c.358C>T (p.Gln120Ter) | |
7 | g.128398512G>C | CA369168862 | IMPDH1 | c.868C>G (p.Gln290Glu) n.851C>G c.976C>G (p.Gln326Glu) c.608C>G c.946C>G (p.Gln316Glu) c.877C>G (p.Gln293Glu) n.565C>G c.741C>G c.718C>G (p.Gln240Glu) c.706C>G (p.Gln236Glu) c.851C>G (n.851C>G) c.646C>G (p.Gln216Glu) c.769C>G (p.Gln257Glu) c.721C>G (p.Gln241Glu) c.745C>G (p.Gln249Glu) c.358C>G (p.Gln120Glu) | |
7 | g.128398512G>T | CA369168868 | IMPDH1 | c.868C>A (p.Gln290Lys) n.851C>A c.976C>A (p.Gln326Lys) c.608C>A c.946C>A (p.Gln316Lys) c.877C>A (p.Gln293Lys) n.565C>A c.741C>A c.718C>A (p.Gln240Lys) c.706C>A (p.Gln236Lys) c.851C>A (n.851C>A) c.646C>A (p.Gln216Lys) c.769C>A (p.Gln257Lys) c.721C>A (p.Gln241Lys) c.745C>A (p.Gln249Lys) c.358C>A (p.Gln120Lys) | gnomAD v4 |
7 | g.128398513G>A | CA457528288 | IMPDH1 | c.867C>T (p.Ser289=) n.850C>T c.975C>T (p.Ser325=) c.607C>T c.945C>T (p.Ser315=) c.876C>T (p.Ser292=) n.564C>T c.740C>T c.717C>T (p.Ser239=) c.705C>T (p.Ser235=) c.850C>T (n.850C>T) c.645C>T (p.Ser215=) c.768C>T (p.Ser256=) c.720C>T (p.Ser240=) c.744C>T (p.Ser248=) c.357C>T (p.Ser119=) | gnomAD v4 |
7 | g.128398513G>C | CA4470982 | IMPDH1 | c.867C>G (p.Ser289=) n.850C>G c.975C>G (p.Ser325=) c.607C>G c.945C>G (p.Ser315=) c.876C>G (p.Ser292=) n.564C>G c.740C>G c.717C>G (p.Ser239=) c.705C>G (p.Ser235=) c.850C>G (n.850C>G) c.645C>G (p.Ser215=) c.768C>G (p.Ser256=) c.720C>G (p.Ser240=) c.744C>G (p.Ser248=) c.357C>G (p.Ser119=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128398513G= | CA1742328099 | IMPDH1 | c.867C= (p.Ser289=) n.850C= c.975C= (p.Ser325=) c.607C= c.945C= (p.Ser315=) c.876C= (p.Ser292=) n.564C= c.740C= c.717C= (p.Ser239=) c.705C= (p.Ser235=) c.850C= (n.850C=) c.645C= (p.Ser215=) c.768C= (p.Ser256=) c.720C= (p.Ser240=) c.744C= (p.Ser248=) c.357C= (p.Ser119=) | |
7 | g.128398513G>T | CA457528290 | IMPDH1 | c.867C>A (p.Ser289=) n.850C>A c.975C>A (p.Ser325=) c.607C>A c.945C>A (p.Ser315=) c.876C>A (p.Ser292=) n.564C>A c.740C>A c.717C>A (p.Ser239=) c.705C>A (p.Ser235=) c.850C>A (n.850C>A) c.645C>A (p.Ser215=) c.768C>A (p.Ser256=) c.720C>A (p.Ser240=) c.744C>A (p.Ser248=) c.357C>A (p.Ser119=) | |
7 | g.128398514G>A | CA369168879 | IMPDH1 | c.866C>T (p.Ser289Phe) n.849C>T c.974C>T (p.Ser325Phe) c.606C>T c.944C>T (p.Ser315Phe) c.875C>T (p.Ser292Phe) n.563C>T c.739C>T c.716C>T (p.Ser239Phe) c.704C>T (p.Ser235Phe) c.849C>T (n.849C>T) c.644C>T (p.Ser215Phe) c.767C>T (p.Ser256Phe) c.719C>T (p.Ser240Phe) c.743C>T (p.Ser248Phe) c.356C>T (p.Ser119Phe) | ClinVar |
7 | g.128398514G>C | CA369168883 | IMPDH1 | c.866C>G (p.Ser289Cys) n.849C>G c.974C>G (p.Ser325Cys) c.606C>G c.944C>G (p.Ser315Cys) c.875C>G (p.Ser292Cys) n.563C>G c.739C>G c.716C>G (p.Ser239Cys) c.704C>G (p.Ser235Cys) c.849C>G (n.849C>G) c.644C>G (p.Ser215Cys) c.767C>G (p.Ser256Cys) c.719C>G (p.Ser240Cys) c.743C>G (p.Ser248Cys) c.356C>G (p.Ser119Cys) | |
7 | g.128398514G= | CA1742328104 | IMPDH1 | c.866C= (p.Ser289=) n.849C= c.974C= (p.Ser325=) c.606C= c.944C= (p.Ser315=) c.875C= (p.Ser292=) n.563C= c.739C= c.716C= (p.Ser239=) c.704C= (p.Ser235=) c.849C= (n.849C=) c.644C= (p.Ser215=) c.767C= (p.Ser256=) c.719C= (p.Ser240=) c.743C= (p.Ser248=) c.356C= (p.Ser119=) | |
7 | g.128398514G>T | CA369168892 | IMPDH1 | c.866C>A (p.Ser289Tyr) n.849C>A c.974C>A (p.Ser325Tyr) c.606C>A c.944C>A (p.Ser315Tyr) c.875C>A (p.Ser292Tyr) n.563C>A c.739C>A c.716C>A (p.Ser239Tyr) c.704C>A (p.Ser235Tyr) c.849C>A (n.849C>A) c.644C>A (p.Ser215Tyr) c.767C>A (p.Ser256Tyr) c.719C>A (p.Ser240Tyr) c.743C>A (p.Ser248Tyr) c.356C>A (p.Ser119Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398515A>C | CA369168913 | IMPDH1 | c.865T>G (p.Ser289Ala) n.848T>G c.973T>G (p.Ser325Ala) c.605T>G c.943T>G (p.Ser315Ala) c.874T>G (p.Ser292Ala) n.562T>G c.738T>G c.715T>G (p.Ser239Ala) c.703T>G (p.Ser235Ala) c.848T>G (n.848T>G) c.643T>G (p.Ser215Ala) c.766T>G (p.Ser256Ala) c.718T>G (p.Ser240Ala) c.742T>G (p.Ser248Ala) c.355T>G (p.Ser119Ala) | gnomAD v4 |
7 | g.128398515A>G | CA369168903 | IMPDH1 | c.865T>C (p.Ser289Pro) n.848T>C c.973T>C (p.Ser325Pro) c.605T>C c.943T>C (p.Ser315Pro) c.874T>C (p.Ser292Pro) n.562T>C c.738T>C c.715T>C (p.Ser239Pro) c.703T>C (p.Ser235Pro) c.848T>C (n.848T>C) c.643T>C (p.Ser215Pro) c.766T>C (p.Ser256Pro) c.718T>C (p.Ser240Pro) c.742T>C (p.Ser248Pro) c.355T>C (p.Ser119Pro) | |
7 | g.128398515A>T | CA369168908 | IMPDH1 | c.865T>A (p.Ser289Thr) n.848T>A c.973T>A (p.Ser325Thr) c.605T>A c.943T>A (p.Ser315Thr) c.874T>A (p.Ser292Thr) n.562T>A c.738T>A c.715T>A (p.Ser239Thr) c.703T>A (p.Ser235Thr) c.848T>A (n.848T>A) c.643T>A (p.Ser215Thr) c.766T>A (p.Ser256Thr) c.718T>A (p.Ser240Thr) c.742T>A (p.Ser248Thr) c.355T>A (p.Ser119Thr) | |
7 | g.128398516A>C | CA369168918 | IMPDH1 | c.864T>G (p.Asp288Glu) n.847T>G c.972T>G (p.Asp324Glu) c.604T>G c.942T>G (p.Asp314Glu) c.873T>G (p.Asp291Glu) n.561T>G c.737T>G c.714T>G (p.Asp238Glu) c.702T>G (p.Asp234Glu) c.847T>G (n.847T>G) c.642T>G (p.Asp214Glu) c.765T>G (p.Asp255Glu) c.717T>G (p.Asp239Glu) c.741T>G (p.Asp247Glu) c.354T>G (p.Asp118Glu) | |
7 | g.128398516A>G | CA457528292 | IMPDH1 | c.864T>C (p.Asp288=) n.847T>C c.972T>C (p.Asp324=) c.604T>C c.942T>C (p.Asp314=) c.873T>C (p.Asp291=) n.561T>C c.737T>C c.714T>C (p.Asp238=) c.702T>C (p.Asp234=) c.847T>C (n.847T>C) c.642T>C (p.Asp214=) c.765T>C (p.Asp255=) c.717T>C (p.Asp239=) c.741T>C (p.Asp247=) c.354T>C (p.Asp118=) | |
7 | g.128398516A>T | CA369168941 | IMPDH1 | c.864T>A (p.Asp288Glu) n.847T>A c.972T>A (p.Asp324Glu) c.604T>A c.942T>A (p.Asp314Glu) c.873T>A (p.Asp291Glu) n.561T>A c.737T>A c.714T>A (p.Asp238Glu) c.702T>A (p.Asp234Glu) c.847T>A (n.847T>A) c.642T>A (p.Asp214Glu) c.765T>A (p.Asp255Glu) c.717T>A (p.Asp239Glu) c.741T>A (p.Asp247Glu) c.354T>A (p.Asp118Glu) | |
7 | g.128398517T>A | CA369168946 | IMPDH1 | c.863A>T (p.Asp288Val) n.846A>T c.971A>T (p.Asp324Val) c.603A>T c.941A>T (p.Asp314Val) c.872A>T (p.Asp291Val) n.560A>T c.736A>T c.713A>T (p.Asp238Val) c.701A>T (p.Asp234Val) c.846A>T (n.846A>T) c.641A>T (p.Asp214Val) c.764A>T (p.Asp255Val) c.716A>T (p.Asp239Val) c.740A>T (p.Asp247Val) c.353A>T (p.Asp118Val) | |
7 | g.128398517T>C | CA369168963 | IMPDH1 | c.863A>G (p.Asp288Gly) n.846A>G c.971A>G (p.Asp324Gly) c.603A>G c.941A>G (p.Asp314Gly) c.872A>G (p.Asp291Gly) n.560A>G c.736A>G c.713A>G (p.Asp238Gly) c.701A>G (p.Asp234Gly) c.846A>G (n.846A>G) c.641A>G (p.Asp214Gly) c.764A>G (p.Asp255Gly) c.716A>G (p.Asp239Gly) c.740A>G (p.Asp247Gly) c.353A>G (p.Asp118Gly) | |
7 | g.128398517T>G | CA369168957 | IMPDH1 | c.863A>C (p.Asp288Ala) n.846A>C c.971A>C (p.Asp324Ala) c.603A>C c.941A>C (p.Asp314Ala) c.872A>C (p.Asp291Ala) n.560A>C c.736A>C c.713A>C (p.Asp238Ala) c.701A>C (p.Asp234Ala) c.846A>C (n.846A>C) c.641A>C (p.Asp214Ala) c.764A>C (p.Asp255Ala) c.716A>C (p.Asp239Ala) c.740A>C (p.Asp247Ala) c.353A>C (p.Asp118Ala) | |
7 | g.128398518C>A | CA369168970 | IMPDH1 | c.862G>T (p.Asp288Tyr) n.845G>T c.970G>T (p.Asp324Tyr) c.602G>T c.940G>T (p.Asp314Tyr) c.871G>T (p.Asp291Tyr) n.559G>T c.735G>T c.712G>T (p.Asp238Tyr) c.700G>T (p.Asp234Tyr) c.845G>T (n.845G>T) c.640G>T (p.Asp214Tyr) c.763G>T (p.Asp255Tyr) c.715G>T (p.Asp239Tyr) c.739G>T (p.Asp247Tyr) c.352G>T (p.Asp118Tyr) | |
7 | g.128398518C>G | CA369168977 | IMPDH1 | c.862G>C (p.Asp288His) n.845G>C c.970G>C (p.Asp324His) c.602G>C c.940G>C (p.Asp314His) c.871G>C (p.Asp291His) n.559G>C c.735G>C c.712G>C (p.Asp238His) c.700G>C (p.Asp234His) c.845G>C (n.845G>C) c.640G>C (p.Asp214His) c.763G>C (p.Asp255His) c.715G>C (p.Asp239His) c.739G>C (p.Asp247His) c.352G>C (p.Asp118His) | |
7 | g.128398518C>T | CA369168975 | IMPDH1 | c.862G>A (p.Asp288Asn) n.845G>A c.970G>A (p.Asp324Asn) c.602G>A c.940G>A (p.Asp314Asn) c.871G>A (p.Asp291Asn) n.559G>A c.735G>A c.712G>A (p.Asp238Asn) c.700G>A (p.Asp234Asn) c.845G>A (n.845G>A) c.640G>A (p.Asp214Asn) c.763G>A (p.Asp255Asn) c.715G>A (p.Asp239Asn) c.739G>A (p.Asp247Asn) c.352G>A (p.Asp118Asn) | |
7 | g.128398519C>A | CA369168984 | IMPDH1 | c.861G>T (p.Lys287Asn) n.844G>T c.969G>T (p.Lys323Asn) c.601G>T c.939G>T (p.Lys313Asn) c.870G>T (p.Lys290Asn) n.558G>T c.734G>T c.711G>T (p.Lys237Asn) c.699G>T (p.Lys233Asn) c.844G>T (n.844G>T) c.639G>T (p.Lys213Asn) c.762G>T (p.Lys254Asn) c.714G>T (p.Lys238Asn) c.738G>T (p.Lys246Asn) c.351G>T (p.Lys117Asn) | ClinVar dbSNP |
7 | g.128398519C= | CA1742328112 | IMPDH1 | c.861G= (p.Lys287=) n.844G= c.969G= (p.Lys323=) c.601G= c.939G= (p.Lys313=) c.870G= (p.Lys290=) n.558G= c.734G= c.711G= (p.Lys237=) c.699G= (p.Lys233=) c.844G= (n.844G=) c.639G= (p.Lys213=) c.762G= (p.Lys254=) c.714G= (p.Lys238=) c.738G= (p.Lys246=) c.351G= (p.Lys117=) | |
7 | g.128398519C>G | CA369168990 | IMPDH1 | c.861G>C (p.Lys287Asn) n.844G>C c.969G>C (p.Lys323Asn) c.601G>C c.939G>C (p.Lys313Asn) c.870G>C (p.Lys290Asn) n.558G>C c.734G>C c.711G>C (p.Lys237Asn) c.699G>C (p.Lys233Asn) c.844G>C (n.844G>C) c.639G>C (p.Lys213Asn) c.762G>C (p.Lys254Asn) c.714G>C (p.Lys238Asn) c.738G>C (p.Lys246Asn) c.351G>C (p.Lys117Asn) | |
7 | g.128398519C>T | CA4470983 | IMPDH1 | c.861G>A (p.Lys287=) n.844G>A c.969G>A (p.Lys323=) c.601G>A c.939G>A (p.Lys313=) c.870G>A (p.Lys290=) n.558G>A c.734G>A c.711G>A (p.Lys237=) c.699G>A (p.Lys233=) c.844G>A (n.844G>A) c.639G>A (p.Lys213=) c.762G>A (p.Lys254=) c.714G>A (p.Lys238=) c.738G>A (p.Lys246=) c.351G>A (p.Lys117=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398520T>A | CA369169018 | IMPDH1 | c.860A>T (p.Lys287Met) n.843A>T c.968A>T (p.Lys323Met) c.600A>T c.938A>T (p.Lys313Met) c.869A>T (p.Lys290Met) n.557A>T c.733A>T c.710A>T (p.Lys237Met) c.698A>T (p.Lys233Met) c.843A>T (n.843A>T) c.638A>T (p.Lys213Met) c.761A>T (p.Lys254Met) c.713A>T (p.Lys238Met) c.737A>T (p.Lys246Met) c.350A>T (p.Lys117Met) | COSMIC COSMIC |
7 | g.128398520T>C | CA369169029 | IMPDH1 | c.860A>G (p.Lys287Arg) n.843A>G c.968A>G (p.Lys323Arg) c.600A>G c.938A>G (p.Lys313Arg) c.869A>G (p.Lys290Arg) n.557A>G c.733A>G c.710A>G (p.Lys237Arg) c.698A>G (p.Lys233Arg) c.843A>G (n.843A>G) c.638A>G (p.Lys213Arg) c.761A>G (p.Lys254Arg) c.713A>G (p.Lys238Arg) c.737A>G (p.Lys246Arg) c.350A>G (p.Lys117Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.128398520T>G | CA369169020 | IMPDH1 | c.860A>C (p.Lys287Thr) n.843A>C c.968A>C (p.Lys323Thr) c.600A>C c.938A>C (p.Lys313Thr) c.869A>C (p.Lys290Thr) n.557A>C c.733A>C c.710A>C (p.Lys237Thr) c.698A>C (p.Lys233Thr) c.843A>C (n.843A>C) c.638A>C (p.Lys213Thr) c.761A>C (p.Lys254Thr) c.713A>C (p.Lys238Thr) c.737A>C (p.Lys246Thr) c.350A>C (p.Lys117Thr) | ClinVar dbSNP |
7 | g.128398520T= | CA1742328119 | IMPDH1 | c.860A= (p.Lys287=) n.843A= c.968A= (p.Lys323=) c.600A= c.938A= (p.Lys313=) c.869A= (p.Lys290=) n.557A= c.733A= c.710A= (p.Lys237=) c.698A= (p.Lys233=) c.843A= (n.843A=) c.638A= (p.Lys213=) c.761A= (p.Lys254=) c.713A= (p.Lys238=) c.737A= (p.Lys246=) c.350A= (p.Lys117=) | |
7 | g.128398521T>A | CA369169040 | IMPDH1 | c.859A>T (p.Lys287Ter) n.842A>T c.967A>T (p.Lys323Ter) c.599A>T c.937A>T (p.Lys313Ter) c.868A>T (p.Lys290Ter) n.556A>T c.732A>T c.709A>T (p.Lys237Ter) c.697A>T (p.Lys233Ter) c.842A>T (n.842A>T) c.637A>T (p.Lys213Ter) c.760A>T (p.Lys254Ter) c.712A>T (p.Lys238Ter) c.736A>T (p.Lys246Ter) c.349A>T (p.Lys117Ter) | |
7 | g.128398521T>C | CA369169047 | IMPDH1 | c.859A>G (p.Lys287Glu) n.842A>G c.967A>G (p.Lys323Glu) c.599A>G c.937A>G (p.Lys313Glu) c.868A>G (p.Lys290Glu) n.556A>G c.732A>G c.709A>G (p.Lys237Glu) c.697A>G (p.Lys233Glu) c.842A>G (n.842A>G) c.637A>G (p.Lys213Glu) c.760A>G (p.Lys254Glu) c.712A>G (p.Lys238Glu) c.736A>G (p.Lys246Glu) c.349A>G (p.Lys117Glu) | ClinVar dbSNP |
7 | g.128398521T>G | CA369169043 | IMPDH1 | c.859A>C (p.Lys287Gln) n.842A>C c.967A>C (p.Lys323Gln) c.599A>C c.937A>C (p.Lys313Gln) c.868A>C (p.Lys290Gln) n.556A>C c.732A>C c.709A>C (p.Lys237Gln) c.697A>C (p.Lys233Gln) c.842A>C (n.842A>C) c.637A>C (p.Lys213Gln) c.760A>C (p.Lys254Gln) c.712A>C (p.Lys238Gln) c.736A>C (p.Lys246Gln) c.349A>C (p.Lys117Gln) | |
7 | g.128398521T= | CA1742328126 | IMPDH1 | c.859A= (p.Lys287=) n.842A= c.967A= (p.Lys323=) c.599A= c.937A= (p.Lys313=) c.868A= (p.Lys290=) n.556A= c.732A= c.709A= (p.Lys237=) c.697A= (p.Lys233=) c.842A= (n.842A=) c.637A= (p.Lys213=) c.760A= (p.Lys254=) c.712A= (p.Lys238=) c.736A= (p.Lys246=) c.349A= (p.Lys117=) | |
7 | g.128398522G>A | CA457528299 | IMPDH1 | c.858C>T (p.Ser286=) n.841C>T c.966C>T (p.Ser322=) c.598C>T c.936C>T (p.Ser312=) c.867C>T (p.Ser289=) n.555C>T c.731C>T c.708C>T (p.Ser236=) c.696C>T (p.Ser232=) c.841C>T (n.841C>T) c.636C>T (p.Ser212=) c.759C>T (p.Ser253=) c.711C>T (p.Ser237=) c.735C>T (p.Ser245=) c.348C>T (p.Ser116=) | |
7 | g.128398522G>C | CA457528300 | IMPDH1 | c.858C>G (p.Ser286=) n.841C>G c.966C>G (p.Ser322=) c.598C>G c.936C>G (p.Ser312=) c.867C>G (p.Ser289=) n.555C>G c.731C>G c.708C>G (p.Ser236=) c.696C>G (p.Ser232=) c.841C>G (n.841C>G) c.636C>G (p.Ser212=) c.759C>G (p.Ser253=) c.711C>G (p.Ser237=) c.735C>G (p.Ser245=) c.348C>G (p.Ser116=) | |
7 | g.128398522G>T | CA457528301 | IMPDH1 | c.858C>A (p.Ser286=) n.841C>A c.966C>A (p.Ser322=) c.598C>A c.936C>A (p.Ser312=) c.867C>A (p.Ser289=) n.555C>A c.731C>A c.708C>A (p.Ser236=) c.696C>A (p.Ser232=) c.841C>A (n.841C>A) c.636C>A (p.Ser212=) c.759C>A (p.Ser253=) c.711C>A (p.Ser237=) c.735C>A (p.Ser245=) c.348C>A (p.Ser116=) | |
7 | g.128398523G>A | CA369169051 | IMPDH1 | c.857C>T (p.Ser286Phe) n.840C>T c.965C>T (p.Ser322Phe) c.597C>T c.935C>T (p.Ser312Phe) c.866C>T (p.Ser289Phe) n.554C>T c.730C>T c.707C>T (p.Ser236Phe) c.695C>T (p.Ser232Phe) c.840C>T (n.840C>T) c.635C>T (p.Ser212Phe) c.758C>T (p.Ser253Phe) c.710C>T (p.Ser237Phe) c.734C>T (p.Ser245Phe) c.347C>T (p.Ser116Phe) | |
7 | g.128398523G>C | CA369169053 | IMPDH1 | c.857C>G (p.Ser286Cys) n.840C>G c.965C>G (p.Ser322Cys) c.597C>G c.935C>G (p.Ser312Cys) c.866C>G (p.Ser289Cys) n.554C>G c.730C>G c.707C>G (p.Ser236Cys) c.695C>G (p.Ser232Cys) c.840C>G (n.840C>G) c.635C>G (p.Ser212Cys) c.758C>G (p.Ser253Cys) c.710C>G (p.Ser237Cys) c.734C>G (p.Ser245Cys) c.347C>G (p.Ser116Cys) | |
7 | g.128398523G>T | CA369169052 | IMPDH1 | c.857C>A (p.Ser286Tyr) n.840C>A c.965C>A (p.Ser322Tyr) c.597C>A c.935C>A (p.Ser312Tyr) c.866C>A (p.Ser289Tyr) n.554C>A c.730C>A c.707C>A (p.Ser236Tyr) c.695C>A (p.Ser232Tyr) c.840C>A (n.840C>A) c.635C>A (p.Ser212Tyr) c.758C>A (p.Ser253Tyr) c.710C>A (p.Ser237Tyr) c.734C>A (p.Ser245Tyr) c.347C>A (p.Ser116Tyr) | gnomAD v4 |
7 | g.128398524A>C | CA369169057 | IMPDH1 | c.856T>G (p.Ser286Ala) n.839T>G c.964T>G (p.Ser322Ala) c.596T>G c.934T>G (p.Ser312Ala) c.865T>G (p.Ser289Ala) n.553T>G c.729T>G c.706T>G (p.Ser236Ala) c.694T>G (p.Ser232Ala) c.839T>G (n.839T>G) c.634T>G (p.Ser212Ala) c.757T>G (p.Ser253Ala) c.709T>G (p.Ser237Ala) c.733T>G (p.Ser245Ala) c.346T>G (p.Ser116Ala) | |
7 | g.128398524A>G | CA369169066 | IMPDH1 | c.856T>C (p.Ser286Pro) n.839T>C c.964T>C (p.Ser322Pro) c.596T>C c.934T>C (p.Ser312Pro) c.865T>C (p.Ser289Pro) n.553T>C c.729T>C c.706T>C (p.Ser236Pro) c.694T>C (p.Ser232Pro) c.839T>C (n.839T>C) c.634T>C (p.Ser212Pro) c.757T>C (p.Ser253Pro) c.709T>C (p.Ser237Pro) c.733T>C (p.Ser245Pro) c.346T>C (p.Ser116Pro) | gnomAD v4 |
7 | g.128398524A>T | CA369169070 | IMPDH1 | c.856T>A (p.Ser286Thr) n.839T>A c.964T>A (p.Ser322Thr) c.596T>A c.934T>A (p.Ser312Thr) c.865T>A (p.Ser289Thr) n.553T>A c.729T>A c.706T>A (p.Ser236Thr) c.694T>A (p.Ser232Thr) c.839T>A (n.839T>A) c.634T>A (p.Ser212Thr) c.757T>A (p.Ser253Thr) c.709T>A (p.Ser237Thr) c.733T>A (p.Ser245Thr) c.346T>A (p.Ser116Thr) | |
7 | g.128398525G>A | CA457528305 | IMPDH1 | c.855C>T (p.Ala285=) n.838C>T c.963C>T (p.Ala321=) c.595C>T c.933C>T (p.Ala311=) c.864C>T (p.Ala288=) n.552C>T c.728C>T c.705C>T (p.Ala235=) c.693C>T (p.Ala231=) c.838C>T (n.838C>T) c.633C>T (p.Ala211=) c.756C>T (p.Ala252=) c.708C>T (p.Ala236=) c.732C>T (p.Ala244=) c.345C>T (p.Ala115=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398525G>C | CA457528306 | IMPDH1 | c.855C>G (p.Ala285=) n.838C>G c.963C>G (p.Ala321=) c.595C>G c.933C>G (p.Ala311=) c.864C>G (p.Ala288=) n.552C>G c.728C>G c.705C>G (p.Ala235=) c.693C>G (p.Ala231=) c.838C>G (n.838C>G) c.633C>G (p.Ala211=) c.756C>G (p.Ala252=) c.708C>G (p.Ala236=) c.732C>G (p.Ala244=) c.345C>G (p.Ala115=) | |
7 | g.128398525G= | CA1742328131 | IMPDH1 | c.855C= (p.Ala285=) n.838C= c.963C= (p.Ala321=) c.595C= c.933C= (p.Ala311=) c.864C= (p.Ala288=) n.552C= c.728C= c.705C= (p.Ala235=) c.693C= (p.Ala231=) c.838C= (n.838C=) c.633C= (p.Ala211=) c.756C= (p.Ala252=) c.708C= (p.Ala236=) c.732C= (p.Ala244=) c.345C= (p.Ala115=) | |
7 | g.128398525G>T | CA457528307 | IMPDH1 | c.855C>A (p.Ala285=) n.838C>A c.963C>A (p.Ala321=) c.595C>A c.933C>A (p.Ala311=) c.864C>A (p.Ala288=) n.552C>A c.728C>A c.705C>A (p.Ala235=) c.693C>A (p.Ala231=) c.838C>A (n.838C>A) c.633C>A (p.Ala211=) c.756C>A (p.Ala252=) c.708C>A (p.Ala236=) c.732C>A (p.Ala244=) c.345C>A (p.Ala115=) | |
7 | g.128398526G>A | CA369169078 | IMPDH1 | c.854C>T (p.Ala285Val) n.837C>T c.962C>T (p.Ala321Val) c.594C>T c.932C>T (p.Ala311Val) c.863C>T (p.Ala288Val) n.551C>T c.727C>T c.704C>T (p.Ala235Val) c.692C>T (p.Ala231Val) c.837C>T (n.837C>T) c.632C>T (p.Ala211Val) c.755C>T (p.Ala252Val) c.707C>T (p.Ala236Val) c.731C>T (p.Ala244Val) c.344C>T (p.Ala115Val) | ClinVar dbSNP |
7 | g.128398526G>C | CA369169082 | IMPDH1 | c.854C>G (p.Ala285Gly) n.837C>G c.962C>G (p.Ala321Gly) c.594C>G c.932C>G (p.Ala311Gly) c.863C>G (p.Ala288Gly) n.551C>G c.727C>G c.704C>G (p.Ala235Gly) c.692C>G (p.Ala231Gly) c.837C>G (n.837C>G) c.632C>G (p.Ala211Gly) c.755C>G (p.Ala252Gly) c.707C>G (p.Ala236Gly) c.731C>G (p.Ala244Gly) c.344C>G (p.Ala115Gly) | |
7 | g.128398526G= | CA1742328143 | IMPDH1 | c.854C= (p.Ala285=) n.837C= c.962C= (p.Ala321=) c.594C= c.932C= (p.Ala311=) c.863C= (p.Ala288=) n.551C= c.727C= c.704C= (p.Ala235=) c.692C= (p.Ala231=) c.837C= (n.837C=) c.632C= (p.Ala211=) c.755C= (p.Ala252=) c.707C= (p.Ala236=) c.731C= (p.Ala244=) c.344C= (p.Ala115=) | |
7 | g.128398526G>T | CA369169093 | IMPDH1 | c.854C>A (p.Ala285Asp) n.837C>A c.962C>A (p.Ala321Asp) c.594C>A c.932C>A (p.Ala311Asp) c.863C>A (p.Ala288Asp) n.551C>A c.727C>A c.704C>A (p.Ala235Asp) c.692C>A (p.Ala231Asp) c.837C>A (n.837C>A) c.632C>A (p.Ala211Asp) c.755C>A (p.Ala252Asp) c.707C>A (p.Ala236Asp) c.731C>A (p.Ala244Asp) c.344C>A (p.Ala115Asp) | |
7 | g.128398527C>A | CA369169102 | IMPDH1 | c.853G>T (p.Ala285Ser) n.836G>T c.961G>T (p.Ala321Ser) c.593G>T c.931G>T (p.Ala311Ser) c.862G>T (p.Ala288Ser) n.550G>T c.726G>T c.703G>T (p.Ala235Ser) c.691G>T (p.Ala231Ser) c.836G>T (n.836G>T) c.631G>T (p.Ala211Ser) c.754G>T (p.Ala252Ser) c.706G>T (p.Ala236Ser) c.730G>T (p.Ala244Ser) c.343G>T (p.Ala115Ser) | |
7 | g.128398527C= | CA1742328150 | IMPDH1 | c.853G= (p.Ala285=) n.836G= c.961G= (p.Ala321=) c.593G= c.931G= (p.Ala311=) c.862G= (p.Ala288=) n.550G= c.726G= c.703G= (p.Ala235=) c.691G= (p.Ala231=) c.836G= (n.836G=) c.631G= (p.Ala211=) c.754G= (p.Ala252=) c.706G= (p.Ala236=) c.730G= (p.Ala244=) c.343G= (p.Ala115=) | |
7 | g.128398527C>G | CA369169098 | IMPDH1 | c.853G>C (p.Ala285Pro) n.836G>C c.961G>C (p.Ala321Pro) c.593G>C c.931G>C (p.Ala311Pro) c.862G>C (p.Ala288Pro) n.550G>C c.726G>C c.703G>C (p.Ala235Pro) c.691G>C (p.Ala231Pro) c.836G>C (n.836G>C) c.631G>C (p.Ala211Pro) c.754G>C (p.Ala252Pro) c.706G>C (p.Ala236Pro) c.730G>C (p.Ala244Pro) c.343G>C (p.Ala115Pro) | |
7 | g.128398527C>T | CA369169100 | IMPDH1 | c.853G>A (p.Ala285Thr) n.836G>A c.961G>A (p.Ala321Thr) c.593G>A c.931G>A (p.Ala311Thr) c.862G>A (p.Ala288Thr) n.550G>A c.726G>A c.703G>A (p.Ala235Thr) c.691G>A (p.Ala231Thr) c.836G>A (n.836G>A) c.631G>A (p.Ala211Thr) c.754G>A (p.Ala252Thr) c.706G>A (p.Ala236Thr) c.730G>A (p.Ala244Thr) c.343G>A (p.Ala115Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398528C>A | CA457528309 | IMPDH1 | c.852G>T (p.Leu284=) n.835G>T c.960G>T (p.Leu320=) c.592G>T c.930G>T (p.Leu310=) c.861G>T (p.Leu287=) n.549G>T c.725G>T c.702G>T (p.Leu234=) c.690G>T (p.Leu230=) c.835G>T (n.835G>T) c.630G>T (p.Leu210=) c.753G>T (p.Leu251=) c.705G>T (p.Leu235=) c.729G>T (p.Leu243=) c.342G>T (p.Leu114=) | |
7 | g.128398528C>G | CA457528310 | IMPDH1 | c.852G>C (p.Leu284=) n.835G>C c.960G>C (p.Leu320=) c.592G>C c.930G>C (p.Leu310=) c.861G>C (p.Leu287=) n.549G>C c.725G>C c.702G>C (p.Leu234=) c.690G>C (p.Leu230=) c.835G>C (n.835G>C) c.630G>C (p.Leu210=) c.753G>C (p.Leu251=) c.705G>C (p.Leu235=) c.729G>C (p.Leu243=) c.342G>C (p.Leu114=) | |
7 | g.128398528C>T | CA457528311 | IMPDH1 | c.852G>A (p.Leu284=) n.835G>A c.960G>A (p.Leu320=) c.592G>A c.930G>A (p.Leu310=) c.861G>A (p.Leu287=) n.549G>A c.725G>A c.702G>A (p.Leu234=) c.690G>A (p.Leu230=) c.835G>A (n.835G>A) c.630G>A (p.Leu210=) c.753G>A (p.Leu251=) c.705G>A (p.Leu235=) c.729G>A (p.Leu243=) c.342G>A (p.Leu114=) | |
7 | g.128398529A= | CA1742328158 | IMPDH1 | c.851T= (p.Leu284=) n.834T= c.959T= (p.Leu320=) c.591T= c.929T= (p.Leu310=) c.860T= (p.Leu287=) n.548T= c.724T= c.701T= (p.Leu234=) c.689T= (p.Leu230=) c.834T= (n.834T=) c.629T= (p.Leu210=) c.752T= (p.Leu251=) c.704T= (p.Leu235=) c.728T= (p.Leu243=) c.341T= (p.Leu114=) | |
7 | g.128398529A>C | CA369169107 | IMPDH1 | c.851T>G (p.Leu284Arg) n.834T>G c.959T>G (p.Leu320Arg) c.591T>G c.929T>G (p.Leu310Arg) c.860T>G (p.Leu287Arg) n.548T>G c.724T>G c.701T>G (p.Leu234Arg) c.689T>G (p.Leu230Arg) c.834T>G (n.834T>G) c.629T>G (p.Leu210Arg) c.752T>G (p.Leu251Arg) c.704T>G (p.Leu235Arg) c.728T>G (p.Leu243Arg) c.341T>G (p.Leu114Arg) | |
7 | g.128398529A>G | CA369169111 | IMPDH1 | c.851T>C (p.Leu284Pro) n.834T>C c.959T>C (p.Leu320Pro) c.591T>C c.929T>C (p.Leu310Pro) c.860T>C (p.Leu287Pro) n.548T>C c.724T>C c.701T>C (p.Leu234Pro) c.689T>C (p.Leu230Pro) c.834T>C (n.834T>C) c.629T>C (p.Leu210Pro) c.752T>C (p.Leu251Pro) c.704T>C (p.Leu235Pro) c.728T>C (p.Leu243Pro) c.341T>C (p.Leu114Pro) | ClinVar dbSNP |
7 | g.128398529A>T | CA369169115 | IMPDH1 | c.851T>A (p.Leu284Gln) n.834T>A c.959T>A (p.Leu320Gln) c.591T>A c.929T>A (p.Leu310Gln) c.860T>A (p.Leu287Gln) n.548T>A c.724T>A c.701T>A (p.Leu234Gln) c.689T>A (p.Leu230Gln) c.834T>A (n.834T>A) c.629T>A (p.Leu210Gln) c.752T>A (p.Leu251Gln) c.704T>A (p.Leu235Gln) c.728T>A (p.Leu243Gln) c.341T>A (p.Leu114Gln) | |
7 | g.128398530G>A | CA457528314 | IMPDH1 | c.850C>T (p.Leu284=) n.833C>T c.958C>T (p.Leu320=) c.590C>T c.928C>T (p.Leu310=) c.859C>T (p.Leu287=) n.547C>T c.723C>T c.700C>T (p.Leu234=) c.688C>T (p.Leu230=) c.833C>T (n.833C>T) c.628C>T (p.Leu210=) c.751C>T (p.Leu251=) c.703C>T (p.Leu235=) c.727C>T (p.Leu243=) c.340C>T (p.Leu114=) | COSMIC |
7 | g.128398530G>C | CA369169121 | IMPDH1 | c.850C>G (p.Leu284Val) n.833C>G c.958C>G (p.Leu320Val) c.590C>G c.928C>G (p.Leu310Val) c.859C>G (p.Leu287Val) n.547C>G c.723C>G c.700C>G (p.Leu234Val) c.688C>G (p.Leu230Val) c.833C>G (n.833C>G) c.628C>G (p.Leu210Val) c.751C>G (p.Leu251Val) c.703C>G (p.Leu235Val) c.727C>G (p.Leu243Val) c.340C>G (p.Leu114Val) | |
7 | g.128398530G>T | CA369169128 | IMPDH1 | c.850C>A (p.Leu284Met) n.833C>A c.958C>A (p.Leu320Met) c.590C>A c.928C>A (p.Leu310Met) c.859C>A (p.Leu287Met) n.547C>A c.723C>A c.700C>A (p.Leu234Met) c.688C>A (p.Leu230Met) c.833C>A (n.833C>A) c.628C>A (p.Leu210Met) c.751C>A (p.Leu251Met) c.703C>A (p.Leu235Met) c.727C>A (p.Leu243Met) c.340C>A (p.Leu114Met) | |
7 | g.128398531A>C | CA457528316 | IMPDH1 | c.849T>G (p.Pro283=) n.832T>G c.957T>G (p.Pro319=) c.589T>G c.927T>G (p.Pro309=) c.858T>G (p.Pro286=) n.546T>G c.722T>G c.699T>G (p.Pro233=) c.687T>G (p.Pro229=) c.832T>G (n.832T>G) c.627T>G (p.Pro209=) c.750T>G (p.Pro250=) c.702T>G (p.Pro234=) c.726T>G (p.Pro242=) c.339T>G (p.Pro113=) | |
7 | g.128398531A>G | CA457528317 | IMPDH1 | c.849T>C (p.Pro283=) n.832T>C c.957T>C (p.Pro319=) c.589T>C c.927T>C (p.Pro309=) c.858T>C (p.Pro286=) n.546T>C c.722T>C c.699T>C (p.Pro233=) c.687T>C (p.Pro229=) c.832T>C (n.832T>C) c.627T>C (p.Pro209=) c.750T>C (p.Pro250=) c.702T>C (p.Pro234=) c.726T>C (p.Pro242=) c.339T>C (p.Pro113=) | |
7 | g.128398531A>T | CA457528315 | IMPDH1 | c.849T>A (p.Pro283=) n.832T>A c.957T>A (p.Pro319=) c.589T>A c.927T>A (p.Pro309=) c.858T>A (p.Pro286=) n.546T>A c.722T>A c.699T>A (p.Pro233=) c.687T>A (p.Pro229=) c.832T>A (n.832T>A) c.627T>A (p.Pro209=) c.750T>A (p.Pro250=) c.702T>A (p.Pro234=) c.726T>A (p.Pro242=) c.339T>A (p.Pro113=) | |
7 | g.128398532G>A | CA369169134 | IMPDH1 | c.848C>T (p.Pro283Leu) n.831C>T c.956C>T (p.Pro319Leu) c.588C>T c.926C>T (p.Pro309Leu) c.857C>T (p.Pro286Leu) n.545C>T c.721C>T c.698C>T (p.Pro233Leu) c.686C>T (p.Pro229Leu) c.831C>T (n.831C>T) c.626C>T (p.Pro209Leu) c.749C>T (p.Pro250Leu) c.701C>T (p.Pro234Leu) c.725C>T (p.Pro242Leu) c.338C>T (p.Pro113Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398532G>C | CA369169156 | IMPDH1 | c.848C>G (p.Pro283Arg) n.831C>G c.956C>G (p.Pro319Arg) c.588C>G c.926C>G (p.Pro309Arg) c.857C>G (p.Pro286Arg) n.545C>G c.721C>G c.698C>G (p.Pro233Arg) c.686C>G (p.Pro229Arg) c.831C>G (n.831C>G) c.626C>G (p.Pro209Arg) c.749C>G (p.Pro250Arg) c.701C>G (p.Pro234Arg) c.725C>G (p.Pro242Arg) c.338C>G (p.Pro113Arg) | |
7 | g.128398532G= | CA1742328164 | IMPDH1 | c.848C= (p.Pro283=) n.831C= c.956C= (p.Pro319=) c.588C= c.926C= (p.Pro309=) c.857C= (p.Pro286=) n.545C= c.721C= c.698C= (p.Pro233=) c.686C= (p.Pro229=) c.831C= (n.831C=) c.626C= (p.Pro209=) c.749C= (p.Pro250=) c.701C= (p.Pro234=) c.725C= (p.Pro242=) c.338C= (p.Pro113=) | |
7 | g.128398532G>T | CA369169153 | IMPDH1 | c.848C>A (p.Pro283His) n.831C>A c.956C>A (p.Pro319His) c.588C>A c.926C>A (p.Pro309His) c.857C>A (p.Pro286His) n.545C>A c.721C>A c.698C>A (p.Pro233His) c.686C>A (p.Pro229His) c.831C>A (n.831C>A) c.626C>A (p.Pro209His) c.749C>A (p.Pro250His) c.701C>A (p.Pro234His) c.725C>A (p.Pro242His) c.338C>A (p.Pro113His) | |
7 | g.128398534del | CA2684777568 | IMPDH1 | c.848del (p.Pro283LeufsTer?) n.831del c.956del (p.Pro319LeufsTer?) c.588del c.926del (p.Pro309LeufsTer?) c.857del (p.Pro286LeufsTer?) n.545del c.721del c.698del (p.Pro233LeufsTer?) c.686del (p.Pro229LeufsTer?) c.831del (n.831del) c.626del (p.Pro209LeufsTer?) c.749del (p.Pro250LeufsTer?) c.701del (p.Pro234LeufsTer?) c.725del (p.Pro242LeufsTer?) c.338del (p.Pro113LeufsTer?) | gnomAD v4 |
7 | g.128398533G>A | CA369169159 | IMPDH1 | c.847C>T (p.Pro283Ser) n.830C>T c.955C>T (p.Pro319Ser) c.587C>T c.925C>T (p.Pro309Ser) c.856C>T (p.Pro286Ser) n.544C>T c.720C>T c.697C>T (p.Pro233Ser) c.685C>T (p.Pro229Ser) c.830C>T (n.830C>T) c.625C>T (p.Pro209Ser) c.748C>T (p.Pro250Ser) c.700C>T (p.Pro234Ser) c.724C>T (p.Pro242Ser) c.337C>T (p.Pro113Ser) | |
7 | g.128398533G>C | CA369169160 | IMPDH1 | c.847C>G (p.Pro283Ala) n.830C>G c.955C>G (p.Pro319Ala) c.587C>G c.925C>G (p.Pro309Ala) c.856C>G (p.Pro286Ala) n.544C>G c.720C>G c.697C>G (p.Pro233Ala) c.685C>G (p.Pro229Ala) c.830C>G (n.830C>G) c.625C>G (p.Pro209Ala) c.748C>G (p.Pro250Ala) c.700C>G (p.Pro234Ala) c.724C>G (p.Pro242Ala) c.337C>G (p.Pro113Ala) | dbSNP gnomAD v4 |
7 | g.128398533G= | CA1742328181 | IMPDH1 | c.847C= (p.Pro283=) n.830C= c.955C= (p.Pro319=) c.587C= c.925C= (p.Pro309=) c.856C= (p.Pro286=) n.544C= c.720C= c.697C= (p.Pro233=) c.685C= (p.Pro229=) c.830C= (n.830C=) c.625C= (p.Pro209=) c.748C= (p.Pro250=) c.700C= (p.Pro234=) c.724C= (p.Pro242=) c.337C= (p.Pro113=) | |
7 | g.128398533G>T | CA369169161 | IMPDH1 | c.847C>A (p.Pro283Thr) n.830C>A c.955C>A (p.Pro319Thr) c.587C>A c.925C>A (p.Pro309Thr) c.856C>A (p.Pro286Thr) n.544C>A c.720C>A c.697C>A (p.Pro233Thr) c.685C>A (p.Pro229Thr) c.830C>A (n.830C>A) c.625C>A (p.Pro209Thr) c.748C>A (p.Pro250Thr) c.700C>A (p.Pro234Thr) c.724C>A (p.Pro242Thr) c.337C>A (p.Pro113Thr) | |
7 | g.128398534G>A | CA457528322 | IMPDH1 | c.846C>T (p.Tyr282=) n.829C>T c.954C>T (p.Tyr318=) c.586C>T c.924C>T (p.Tyr308=) c.855C>T (p.Tyr285=) n.543C>T c.719C>T c.696C>T (p.Tyr232=) c.684C>T (p.Tyr228=) c.829C>T (n.829C>T) c.624C>T (p.Tyr208=) c.747C>T (p.Tyr249=) c.699C>T (p.Tyr233=) c.723C>T (p.Tyr241=) c.336C>T (p.Tyr112=) | |
7 | g.128398534G>C | CA369169165 | IMPDH1 | c.846C>G (p.Tyr282Ter) n.829C>G c.954C>G (p.Tyr318Ter) c.586C>G c.924C>G (p.Tyr308Ter) c.855C>G (p.Tyr285Ter) n.543C>G c.719C>G c.696C>G (p.Tyr232Ter) c.684C>G (p.Tyr228Ter) c.829C>G (n.829C>G) c.624C>G (p.Tyr208Ter) c.747C>G (p.Tyr249Ter) c.699C>G (p.Tyr233Ter) c.723C>G (p.Tyr241Ter) c.336C>G (p.Tyr112Ter) | |
7 | g.128398534G>T | CA369169169 | IMPDH1 | c.846C>A (p.Tyr282Ter) n.829C>A c.954C>A (p.Tyr318Ter) c.586C>A c.924C>A (p.Tyr308Ter) c.855C>A (p.Tyr285Ter) n.543C>A c.719C>A c.696C>A (p.Tyr232Ter) c.684C>A (p.Tyr228Ter) c.829C>A (n.829C>A) c.624C>A (p.Tyr208Ter) c.747C>A (p.Tyr249Ter) c.699C>A (p.Tyr233Ter) c.723C>A (p.Tyr241Ter) c.336C>A (p.Tyr112Ter) | |
7 | g.128398534_128398535delinsGT | CA1742328191 | IMPDH1 | c.845_846delinsAC (p.Tyr282=) n.828_829delinsAC c.953_954delinsAC (p.Tyr318=) c.585_586delinsAC c.923_924delinsAC (p.Tyr308=) c.854_855delinsAC (p.Tyr285=) n.542_543delinsAC c.718_719delinsAC c.695_696delinsAC (p.Tyr232=) c.683_684delinsAC (p.Tyr228=) c.828_829delinsAC (n.828_829delinsAC) c.623_624delinsAC (p.Tyr208=) c.746_747delinsAC (p.Tyr249=) c.698_699delinsAC (p.Tyr233=) c.722_723delinsAC (p.Tyr241=) c.335_336delinsAC (p.Tyr112=) | |
7 | g.128398535del | CA1742328195 | IMPDH1 | c.845del (p.Tyr282SerfsTer?) n.828del c.953del (p.Tyr318SerfsTer?) c.585del c.923del (p.Tyr308SerfsTer?) c.854del (p.Tyr285SerfsTer?) n.542del c.718del c.695del (p.Tyr232SerfsTer?) c.683del (p.Tyr228SerfsTer?) c.828del (n.828del) c.623del (p.Tyr208SerfsTer?) c.746del (p.Tyr249SerfsTer?) c.698del (p.Tyr233SerfsTer?) c.722del (p.Tyr241SerfsTer?) c.335del (p.Tyr112SerfsTer?) | dbSNP gnomAD v4 |
7 | g.128398535T>A | CA369169176 | IMPDH1 | c.845A>T (p.Tyr282Phe) n.828A>T c.953A>T (p.Tyr318Phe) c.585A>T c.923A>T (p.Tyr308Phe) c.854A>T (p.Tyr285Phe) n.542A>T c.718A>T c.695A>T (p.Tyr232Phe) c.683A>T (p.Tyr228Phe) c.828A>T (n.828A>T) c.623A>T (p.Tyr208Phe) c.746A>T (p.Tyr249Phe) c.698A>T (p.Tyr233Phe) c.722A>T (p.Tyr241Phe) c.335A>T (p.Tyr112Phe) | |
7 | g.128398535T>C | CA369169182 | IMPDH1 | c.845A>G (p.Tyr282Cys) n.828A>G c.953A>G (p.Tyr318Cys) c.585A>G c.923A>G (p.Tyr308Cys) c.854A>G (p.Tyr285Cys) n.542A>G c.718A>G c.695A>G (p.Tyr232Cys) c.683A>G (p.Tyr228Cys) c.828A>G (n.828A>G) c.623A>G (p.Tyr208Cys) c.746A>G (p.Tyr249Cys) c.698A>G (p.Tyr233Cys) c.722A>G (p.Tyr241Cys) c.335A>G (p.Tyr112Cys) | |
7 | g.128398535T>G | CA369169188 | IMPDH1 | c.845A>C (p.Tyr282Ser) n.828A>C c.953A>C (p.Tyr318Ser) c.585A>C c.923A>C (p.Tyr308Ser) c.854A>C (p.Tyr285Ser) n.542A>C c.718A>C c.695A>C (p.Tyr232Ser) c.683A>C (p.Tyr228Ser) c.828A>C (n.828A>C) c.623A>C (p.Tyr208Ser) c.746A>C (p.Tyr249Ser) c.698A>C (p.Tyr233Ser) c.722A>C (p.Tyr241Ser) c.335A>C (p.Tyr112Ser) | dbSNP |
7 | g.128398535T= | CA1742328198 | IMPDH1 | c.845A= (p.Tyr282=) n.828A= c.953A= (p.Tyr318=) c.585A= c.923A= (p.Tyr308=) c.854A= (p.Tyr285=) n.542A= c.718A= c.695A= (p.Tyr232=) c.683A= (p.Tyr228=) c.828A= (n.828A=) c.623A= (p.Tyr208=) c.746A= (p.Tyr249=) c.698A= (p.Tyr233=) c.722A= (p.Tyr241=) c.335A= (p.Tyr112=) | |
7 | g.128398536A= | CA1742328204 | IMPDH1 | c.844T= (p.Tyr282=) n.827T= c.952T= (p.Tyr318=) c.584T= c.922T= (p.Tyr308=) c.853T= (p.Tyr285=) n.541T= c.717T= c.694T= (p.Tyr232=) c.682T= (p.Tyr228=) c.827T= (n.827T=) c.622T= (p.Tyr208=) c.745T= (p.Tyr249=) c.697T= (p.Tyr233=) c.721T= (p.Tyr241=) c.334T= (p.Tyr112=) | |
7 | g.128398536A>C | CA369169193 | IMPDH1 | c.844T>G (p.Tyr282Asp) n.827T>G c.952T>G (p.Tyr318Asp) c.584T>G c.922T>G (p.Tyr308Asp) c.853T>G (p.Tyr285Asp) n.541T>G c.717T>G c.694T>G (p.Tyr232Asp) c.682T>G (p.Tyr228Asp) c.827T>G (n.827T>G) c.622T>G (p.Tyr208Asp) c.745T>G (p.Tyr249Asp) c.697T>G (p.Tyr233Asp) c.721T>G (p.Tyr241Asp) c.334T>G (p.Tyr112Asp) | |
7 | g.128398536A>G | CA369169194 | IMPDH1 | c.844T>C (p.Tyr282His) n.827T>C c.952T>C (p.Tyr318His) c.584T>C c.922T>C (p.Tyr308His) c.853T>C (p.Tyr285His) n.541T>C c.717T>C c.694T>C (p.Tyr232His) c.682T>C (p.Tyr228His) c.827T>C (n.827T>C) c.622T>C (p.Tyr208His) c.745T>C (p.Tyr249His) c.697T>C (p.Tyr233His) c.721T>C (p.Tyr241His) c.334T>C (p.Tyr112His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398536A>T | CA369169195 | IMPDH1 | c.844T>A (p.Tyr282Asn) n.827T>A c.952T>A (p.Tyr318Asn) c.584T>A c.922T>A (p.Tyr308Asn) c.853T>A (p.Tyr285Asn) n.541T>A c.717T>A c.694T>A (p.Tyr232Asn) c.682T>A (p.Tyr228Asn) c.827T>A (n.827T>A) c.622T>A (p.Tyr208Asn) c.745T>A (p.Tyr249Asn) c.697T>A (p.Tyr233Asn) c.721T>A (p.Tyr241Asn) c.334T>A (p.Tyr112Asn) | |
7 | g.128398537G>A | CA457528323 | IMPDH1 | c.843C>T (p.Asp281=) n.826C>T c.951C>T (p.Asp317=) c.583C>T c.921C>T (p.Asp307=) c.852C>T (p.Asp284=) n.540C>T c.716C>T c.693C>T (p.Asp231=) c.681C>T (p.Asp227=) c.826C>T (n.826C>T) c.621C>T (p.Asp207=) c.744C>T (p.Asp248=) c.696C>T (p.Asp232=) c.720C>T (p.Asp240=) c.333C>T (p.Asp111=) | ClinVar gnomAD v4 |
7 | g.128398537G>C | CA369169203 | IMPDH1 | c.843C>G (p.Asp281Glu) n.826C>G c.951C>G (p.Asp317Glu) c.583C>G c.921C>G (p.Asp307Glu) c.852C>G (p.Asp284Glu) n.540C>G c.716C>G c.693C>G (p.Asp231Glu) c.681C>G (p.Asp227Glu) c.826C>G (n.826C>G) c.621C>G (p.Asp207Glu) c.744C>G (p.Asp248Glu) c.696C>G (p.Asp232Glu) c.720C>G (p.Asp240Glu) c.333C>G (p.Asp111Glu) | |
7 | g.128398537G>T | CA369169198 | IMPDH1 | c.843C>A (p.Asp281Glu) n.826C>A c.951C>A (p.Asp317Glu) c.583C>A c.921C>A (p.Asp307Glu) c.852C>A (p.Asp284Glu) n.540C>A c.716C>A c.693C>A (p.Asp231Glu) c.681C>A (p.Asp227Glu) c.826C>A (n.826C>A) c.621C>A (p.Asp207Glu) c.744C>A (p.Asp248Glu) c.696C>A (p.Asp232Glu) c.720C>A (p.Asp240Glu) c.333C>A (p.Asp111Glu) | |
7 | g.128398537_128398538insA | CA2777839034 | IMPDH1 | c.842_843insT (p.Tyr282LeufsTer22) n.825_826insT c.950_951insT (p.Tyr318LeufsTer22) c.582_583insT c.920_921insT (p.Tyr308LeufsTer22) c.851_852insT (p.Tyr285LeufsTer22) n.539_540insT c.715_716insT c.692_693insT (p.Tyr232LeufsTer22) c.680_681insT (p.Tyr228LeufsTer22) c.825_826insT (n.825_826insT) c.620_621insT (p.Tyr208LeufsTer22) c.743_744insT (p.Tyr249LeufsTer22) c.695_696insT (p.Tyr233LeufsTer22) c.719_720insT (p.Tyr241LeufsTer22) c.332_333insT (p.Tyr112LeufsTer22) | |
7 | g.128398538T>A | CA369169210 | IMPDH1 | c.842A>T (p.Asp281Val) n.825A>T c.950A>T (p.Asp317Val) c.582A>T c.920A>T (p.Asp307Val) c.851A>T (p.Asp284Val) n.539A>T c.715A>T c.692A>T (p.Asp231Val) c.680A>T (p.Asp227Val) c.825A>T (n.825A>T) c.620A>T (p.Asp207Val) c.743A>T (p.Asp248Val) c.695A>T (p.Asp232Val) c.719A>T (p.Asp240Val) c.332A>T (p.Asp111Val) | COSMIC |
7 | g.128398538T>C | CA369169213 | IMPDH1 | c.842A>G (p.Asp281Gly) n.825A>G c.950A>G (p.Asp317Gly) c.582A>G c.920A>G (p.Asp307Gly) c.851A>G (p.Asp284Gly) n.539A>G c.715A>G c.692A>G (p.Asp231Gly) c.680A>G (p.Asp227Gly) c.825A>G (n.825A>G) c.620A>G (p.Asp207Gly) c.743A>G (p.Asp248Gly) c.695A>G (p.Asp232Gly) c.719A>G (p.Asp240Gly) c.332A>G (p.Asp111Gly) | |
7 | g.128398538T>G | CA369169215 | IMPDH1 | c.842A>C (p.Asp281Ala) n.825A>C c.950A>C (p.Asp317Ala) c.582A>C c.920A>C (p.Asp307Ala) c.851A>C (p.Asp284Ala) n.539A>C c.715A>C c.692A>C (p.Asp231Ala) c.680A>C (p.Asp227Ala) c.825A>C (n.825A>C) c.620A>C (p.Asp207Ala) c.743A>C (p.Asp248Ala) c.695A>C (p.Asp232Ala) c.719A>C (p.Asp240Ala) c.332A>C (p.Asp111Ala) | dbSNP |
7 | g.128398538T= | CA1742328207 | IMPDH1 | c.842A= (p.Asp281=) n.825A= c.950A= (p.Asp317=) c.582A= c.920A= (p.Asp307=) c.851A= (p.Asp284=) n.539A= c.715A= c.692A= (p.Asp231=) c.680A= (p.Asp227=) c.825A= (n.825A=) c.620A= (p.Asp207=) c.743A= (p.Asp248=) c.695A= (p.Asp232=) c.719A= (p.Asp240=) c.332A= (p.Asp111=) | |
7 | g.128398539C>A | CA369169218 | IMPDH1 | c.841G>T (p.Asp281Tyr) n.824G>T c.949G>T (p.Asp317Tyr) c.581G>T c.919G>T (p.Asp307Tyr) c.850G>T (p.Asp284Tyr) n.538G>T c.714G>T c.691G>T (p.Asp231Tyr) c.679G>T (p.Asp227Tyr) c.824G>T (n.824G>T) c.619G>T (p.Asp207Tyr) c.742G>T (p.Asp248Tyr) c.694G>T (p.Asp232Tyr) c.718G>T (p.Asp240Tyr) c.331G>T (p.Asp111Tyr) | |
7 | g.128398539C= | CA1742328211 | IMPDH1 | c.841G= (p.Asp281=) n.824G= c.949G= (p.Asp317=) c.581G= c.919G= (p.Asp307=) c.850G= (p.Asp284=) n.538G= c.714G= c.691G= (p.Asp231=) c.679G= (p.Asp227=) c.824G= (n.824G=) c.619G= (p.Asp207=) c.742G= (p.Asp248=) c.694G= (p.Asp232=) c.718G= (p.Asp240=) c.331G= (p.Asp111=) | |
7 | g.128398539C>G | CA369169219 | IMPDH1 | c.841G>C (p.Asp281His) n.824G>C c.949G>C (p.Asp317His) c.581G>C c.919G>C (p.Asp307His) c.850G>C (p.Asp284His) n.538G>C c.714G>C c.691G>C (p.Asp231His) c.679G>C (p.Asp227His) c.824G>C (n.824G>C) c.619G>C (p.Asp207His) c.742G>C (p.Asp248His) c.694G>C (p.Asp232His) c.718G>C (p.Asp240His) c.331G>C (p.Asp111His) | |
7 | g.128398539C>T | CA369169221 | IMPDH1 | c.841G>A (p.Asp281Asn) n.824G>A c.949G>A (p.Asp317Asn) c.581G>A c.919G>A (p.Asp307Asn) c.850G>A (p.Asp284Asn) n.538G>A c.714G>A c.691G>A (p.Asp231Asn) c.679G>A (p.Asp227Asn) c.824G>A (n.824G>A) c.619G>A (p.Asp207Asn) c.742G>A (p.Asp248Asn) c.694G>A (p.Asp232Asn) c.718G>A (p.Asp240Asn) c.331G>A (p.Asp111Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398540T>A | CA457528329 | IMPDH1 | c.840A>T (p.Arg280=) n.823A>T c.948A>T (p.Arg316=) c.580A>T c.918A>T (p.Arg306=) c.849A>T (p.Arg283=) n.537A>T c.713A>T c.690A>T (p.Arg230=) c.678A>T (p.Arg226=) c.823A>T (n.823A>T) c.618A>T (p.Arg206=) c.741A>T (p.Arg247=) c.693A>T (p.Arg231=) c.717A>T (p.Arg239=) c.330A>T (p.Arg110=) | |
7 | g.128398540T>C | CA457528331 | IMPDH1 | c.840A>G (p.Arg280=) n.823A>G c.948A>G (p.Arg316=) c.580A>G c.918A>G (p.Arg306=) c.849A>G (p.Arg283=) n.537A>G c.713A>G c.690A>G (p.Arg230=) c.678A>G (p.Arg226=) c.823A>G (n.823A>G) c.618A>G (p.Arg206=) c.741A>G (p.Arg247=) c.693A>G (p.Arg231=) c.717A>G (p.Arg239=) c.330A>G (p.Arg110=) | |
7 | g.128398540T>G | CA457528332 | IMPDH1 | c.840A>C (p.Arg280=) n.823A>C c.948A>C (p.Arg316=) c.580A>C c.918A>C (p.Arg306=) c.849A>C (p.Arg283=) n.537A>C c.713A>C c.690A>C (p.Arg230=) c.678A>C (p.Arg226=) c.823A>C (n.823A>C) c.618A>C (p.Arg206=) c.741A>C (p.Arg247=) c.693A>C (p.Arg231=) c.717A>C (p.Arg239=) c.330A>C (p.Arg110=) | |
7 | g.128398541C>A | CA369169232 | IMPDH1 | c.839G>T (p.Arg280Leu) n.822G>T c.947G>T (p.Arg316Leu) c.579G>T c.917G>T (p.Arg306Leu) c.848G>T (p.Arg283Leu) n.536G>T c.712G>T c.689G>T (p.Arg230Leu) c.677G>T (p.Arg226Leu) c.822G>T (n.822G>T) c.617G>T (p.Arg206Leu) c.740G>T (p.Arg247Leu) c.692G>T (p.Arg231Leu) c.716G>T (p.Arg239Leu) c.329G>T (p.Arg110Leu) | |
7 | g.128398541C= | CA1742328220 | IMPDH1 | c.839G= (p.Arg280=) n.822G= c.947G= (p.Arg316=) c.579G= c.917G= (p.Arg306=) c.848G= (p.Arg283=) n.536G= c.712G= c.689G= (p.Arg230=) c.677G= (p.Arg226=) c.822G= (n.822G=) c.617G= (p.Arg206=) c.740G= (p.Arg247=) c.692G= (p.Arg231=) c.716G= (p.Arg239=) c.329G= (p.Arg110=) | |
7 | g.128398541C>G | CA369169224 | IMPDH1 | c.839G>C (p.Arg280Pro) n.822G>C c.947G>C (p.Arg316Pro) c.579G>C c.917G>C (p.Arg306Pro) c.848G>C (p.Arg283Pro) n.536G>C c.712G>C c.689G>C (p.Arg230Pro) c.677G>C (p.Arg226Pro) c.822G>C (n.822G>C) c.617G>C (p.Arg206Pro) c.740G>C (p.Arg247Pro) c.692G>C (p.Arg231Pro) c.716G>C (p.Arg239Pro) c.329G>C (p.Arg110Pro) | |
7 | g.128398541C>T | CA369169226 | IMPDH1 | c.839G>A (p.Arg280Gln) n.822G>A c.947G>A (p.Arg316Gln) c.579G>A c.917G>A (p.Arg306Gln) c.848G>A (p.Arg283Gln) n.536G>A c.712G>A c.689G>A (p.Arg230Gln) c.677G>A (p.Arg226Gln) c.822G>A (n.822G>A) c.617G>A (p.Arg206Gln) c.740G>A (p.Arg247Gln) c.692G>A (p.Arg231Gln) c.716G>A (p.Arg239Gln) c.329G>A (p.Arg110Gln) | ClinVar dbSNP gnomAD v4 |
7 | g.128398542G>A | CA369169237 | IMPDH1 | c.838C>T (p.Arg280Ter) n.821C>T c.946C>T (p.Arg316Ter) c.578C>T c.916C>T (p.Arg306Ter) c.847C>T (p.Arg283Ter) n.535C>T c.711C>T c.688C>T (p.Arg230Ter) c.676C>T (p.Arg226Ter) c.821C>T (n.821C>T) c.616C>T (p.Arg206Ter) c.739C>T (p.Arg247Ter) c.691C>T (p.Arg231Ter) c.715C>T (p.Arg239Ter) c.328C>T (p.Arg110Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398542G>C | CA369169240 | IMPDH1 | c.838C>G (p.Arg280Gly) n.821C>G c.946C>G (p.Arg316Gly) c.578C>G c.916C>G (p.Arg306Gly) c.847C>G (p.Arg283Gly) n.535C>G c.711C>G c.688C>G (p.Arg230Gly) c.676C>G (p.Arg226Gly) c.821C>G (n.821C>G) c.616C>G (p.Arg206Gly) c.739C>G (p.Arg247Gly) c.691C>G (p.Arg231Gly) c.715C>G (p.Arg239Gly) c.328C>G (p.Arg110Gly) | |
7 | g.128398542G= | CA1742328241 | IMPDH1 | c.838C= (p.Arg280=) n.821C= c.946C= (p.Arg316=) c.578C= c.916C= (p.Arg306=) c.847C= (p.Arg283=) n.535C= c.711C= c.688C= (p.Arg230=) c.676C= (p.Arg226=) c.821C= (n.821C=) c.616C= (p.Arg206=) c.739C= (p.Arg247=) c.691C= (p.Arg231=) c.715C= (p.Arg239=) c.328C= (p.Arg110=) | |
7 | g.128398542G>T | CA457528333 | IMPDH1 | c.838C>A (p.Arg280=) n.821C>A c.946C>A (p.Arg316=) c.578C>A c.916C>A (p.Arg306=) c.847C>A (p.Arg283=) n.535C>A c.711C>A c.688C>A (p.Arg230=) c.676C>A (p.Arg226=) c.821C>A (n.821C>A) c.616C>A (p.Arg206=) c.739C>A (p.Arg247=) c.691C>A (p.Arg231=) c.715C>A (p.Arg239=) c.328C>A (p.Arg110=) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.128398543G>A | CA166126072 | IMPDH1 | c.837C>T (p.Asn279=) n.820C>T c.945C>T (p.Asn315=) c.577C>T c.915C>T (p.Asn305=) c.846C>T (p.Asn282=) n.534C>T c.710C>T c.687C>T (p.Asn229=) c.675C>T (p.Asn225=) c.820C>T (n.820C>T) c.615C>T (p.Asn205=) c.738C>T (p.Asn246=) c.690C>T (p.Asn230=) c.714C>T (p.Asn238=) c.327C>T (p.Asn109=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
7 | g.128398543G>C | CA369169244 | IMPDH1 | c.837C>G (p.Asn279Lys) n.820C>G c.945C>G (p.Asn315Lys) c.577C>G c.915C>G (p.Asn305Lys) c.846C>G (p.Asn282Lys) n.534C>G c.710C>G c.687C>G (p.Asn229Lys) c.675C>G (p.Asn225Lys) c.820C>G (n.820C>G) c.615C>G (p.Asn205Lys) c.738C>G (p.Asn246Lys) c.690C>G (p.Asn230Lys) c.714C>G (p.Asn238Lys) c.327C>G (p.Asn109Lys) | ClinVar dbSNP |
7 | g.128398543G= | CA1742328255 | IMPDH1 | c.837C= (p.Asn279=) n.820C= c.945C= (p.Asn315=) c.577C= c.915C= (p.Asn305=) c.846C= (p.Asn282=) n.534C= c.710C= c.687C= (p.Asn229=) c.675C= (p.Asn225=) c.820C= (n.820C=) c.615C= (p.Asn205=) c.738C= (p.Asn246=) c.690C= (p.Asn230=) c.714C= (p.Asn238=) c.327C= (p.Asn109=) | |
7 | g.128398543G>T | CA369169245 | IMPDH1 | c.837C>A (p.Asn279Lys) n.820C>A c.945C>A (p.Asn315Lys) c.577C>A c.915C>A (p.Asn305Lys) c.846C>A (p.Asn282Lys) n.534C>A c.710C>A c.687C>A (p.Asn229Lys) c.675C>A (p.Asn225Lys) c.820C>A (n.820C>A) c.615C>A (p.Asn205Lys) c.738C>A (p.Asn246Lys) c.690C>A (p.Asn230Lys) c.714C>A (p.Asn238Lys) c.327C>A (p.Asn109Lys) | COSMIC COSMIC |
7 | g.128398543_128398546delinsGTTC | CA1742328250 | IMPDH1 | c.834_837delinsGAAC (p.Lys278=) n.817_820delinsGAAC c.942_945delinsGAAC (p.Lys314=) c.574_577delinsGAAC c.912_915delinsGAAC (p.Lys304=) c.843_846delinsGAAC (p.Lys281=) n.531_534delinsGAAC c.707_710delinsGAAC c.684_687delinsGAAC (p.Lys228=) c.672_675delinsGAAC (p.Lys224=) c.817_820delinsGAAC (n.817_820delinsGAAC) c.612_615delinsGAAC (p.Lys204=) c.735_738delinsGAAC (p.Lys245=) c.687_690delinsGAAC (p.Lys229=) c.711_714delinsGAAC (p.Lys237=) c.324_327delinsGAAC (p.Lys108=) | |
7 | g.128398544T>A | CA369169257 | IMPDH1 | c.836A>T (p.Asn279Ile) n.819A>T c.944A>T (p.Asn315Ile) c.576A>T c.914A>T (p.Asn305Ile) c.845A>T (p.Asn282Ile) n.533A>T c.709A>T c.686A>T (p.Asn229Ile) c.674A>T (p.Asn225Ile) c.819A>T (n.819A>T) c.614A>T (p.Asn205Ile) c.737A>T (p.Asn246Ile) c.689A>T (p.Asn230Ile) c.713A>T (p.Asn238Ile) c.326A>T (p.Asn109Ile) | |
7 | g.128398544T>C | CA369169251 | IMPDH1 | c.836A>G (p.Asn279Ser) n.819A>G c.944A>G (p.Asn315Ser) c.576A>G c.914A>G (p.Asn305Ser) c.845A>G (p.Asn282Ser) n.533A>G c.709A>G c.686A>G (p.Asn229Ser) c.674A>G (p.Asn225Ser) c.819A>G (n.819A>G) c.614A>G (p.Asn205Ser) c.737A>G (p.Asn246Ser) c.689A>G (p.Asn230Ser) c.713A>G (p.Asn238Ser) c.326A>G (p.Asn109Ser) | |
7 | g.128398544T>G | CA369169255 | IMPDH1 | c.836A>C (p.Asn279Thr) n.819A>C c.944A>C (p.Asn315Thr) c.576A>C c.914A>C (p.Asn305Thr) c.845A>C (p.Asn282Thr) n.533A>C c.709A>C c.686A>C (p.Asn229Thr) c.674A>C (p.Asn225Thr) c.819A>C (n.819A>C) c.614A>C (p.Asn205Thr) c.737A>C (p.Asn246Thr) c.689A>C (p.Asn230Thr) c.713A>C (p.Asn238Thr) c.326A>C (p.Asn109Thr) | |
7 | g.128398550_128398552del | CA658683499 | IMPDH1 | c.834_836del (p.Lys278del) n.817_819del c.942_944del (p.Lys314del) c.574_576del c.912_914del (p.Lys304del) c.843_845del (p.Lys281del) n.531_533del c.707_709del c.684_686del (p.Lys228del) c.672_674del (p.Lys224del) c.817_819del (n.817_819del) c.612_614del (p.Lys204del) c.735_737del (p.Lys245del) c.687_689del (p.Lys229del) c.711_713del (p.Lys237del) c.324_326del (p.Lys108del) | ClinVar dbSNP |
7 | g.128398545T>A | CA369169260 | IMPDH1 | c.835A>T (p.Asn279Tyr) n.818A>T c.943A>T (p.Asn315Tyr) c.575A>T c.913A>T (p.Asn305Tyr) c.844A>T (p.Asn282Tyr) n.532A>T c.708A>T c.685A>T (p.Asn229Tyr) c.673A>T (p.Asn225Tyr) c.818A>T (n.818A>T) c.613A>T (p.Asn205Tyr) c.736A>T (p.Asn246Tyr) c.688A>T (p.Asn230Tyr) c.712A>T (p.Asn238Tyr) c.325A>T (p.Asn109Tyr) | ClinVar dbSNP |
7 | g.128398545T>C | CA369169264 | IMPDH1 | c.835A>G (p.Asn279Asp) n.818A>G c.943A>G (p.Asn315Asp) c.575A>G c.913A>G (p.Asn305Asp) c.844A>G (p.Asn282Asp) n.532A>G c.708A>G c.685A>G (p.Asn229Asp) c.673A>G (p.Asn225Asp) c.818A>G (n.818A>G) c.613A>G (p.Asn205Asp) c.736A>G (p.Asn246Asp) c.688A>G (p.Asn230Asp) c.712A>G (p.Asn238Asp) c.325A>G (p.Asn109Asp) | |
7 | g.128398545T>G | CA369169267 | IMPDH1 | c.835A>C (p.Asn279His) n.818A>C c.943A>C (p.Asn315His) c.575A>C c.913A>C (p.Asn305His) c.844A>C (p.Asn282His) n.532A>C c.708A>C c.685A>C (p.Asn229His) c.673A>C (p.Asn225His) c.818A>C (n.818A>C) c.613A>C (p.Asn205His) c.736A>C (p.Asn246His) c.688A>C (p.Asn230His) c.712A>C (p.Asn238His) c.325A>C (p.Asn109His) | |
7 | g.128398545T= | CA1742328277 | IMPDH1 | c.835A= (p.Asn279=) n.818A= c.943A= (p.Asn315=) c.575A= c.913A= (p.Asn305=) c.844A= (p.Asn282=) n.532A= c.708A= c.685A= (p.Asn229=) c.673A= (p.Asn225=) c.818A= (n.818A=) c.613A= (p.Asn205=) c.736A= (p.Asn246=) c.688A= (p.Asn230=) c.712A= (p.Asn238=) c.325A= (p.Asn109=) | |
7 | g.128398545_128398546delinsGG | CA2580076515 | IMPDH1 | c.834_835delinsCC (p.Lys278_Asn279delinsAsnHis) n.817_818delinsCC c.942_943delinsCC (p.Lys314_Asn315delinsAsnHis) c.574_575delinsCC c.912_913delinsCC (p.Lys304_Asn305delinsAsnHis) c.843_844delinsCC (p.Lys281_Asn282delinsAsnHis) n.531_532delinsCC c.707_708delinsCC c.684_685delinsCC (p.Lys228_Asn229delinsAsnHis) c.672_673delinsCC (p.Lys224_Asn225delinsAsnHis) c.817_818delinsCC (n.817_818delinsCC) c.612_613delinsCC (p.Lys204_Asn205delinsAsnHis) c.735_736delinsCC (p.Lys245_Asn246delinsAsnHis) c.687_688delinsCC (p.Lys229_Asn230delinsAsnHis) c.711_712delinsCC (p.Lys237_Asn238delinsAsnHis) c.324_325delinsCC (p.Lys108_Asn109delinsAsnHis) | ClinVar |
7 | g.128398546C>A | CA369169270 | IMPDH1 | c.834G>T (p.Lys278Asn) n.817G>T c.942G>T (p.Lys314Asn) c.574G>T c.912G>T (p.Lys304Asn) c.843G>T (p.Lys281Asn) n.531G>T c.707G>T c.684G>T (p.Lys228Asn) c.672G>T (p.Lys224Asn) c.817G>T (n.817G>T) c.612G>T (p.Lys204Asn) c.735G>T (p.Lys245Asn) c.687G>T (p.Lys229Asn) c.711G>T (p.Lys237Asn) c.324G>T (p.Lys108Asn) | ClinVar dbSNP |
7 | g.128398546C= | CA1742328296 | IMPDH1 | c.834G= (p.Lys278=) n.817G= c.942G= (p.Lys314=) c.574G= c.912G= (p.Lys304=) c.843G= (p.Lys281=) n.531G= c.707G= c.684G= (p.Lys228=) c.672G= (p.Lys224=) c.817G= (n.817G=) c.612G= (p.Lys204=) c.735G= (p.Lys245=) c.687G= (p.Lys229=) c.711G= (p.Lys237=) c.324G= (p.Lys108=) | |
7 | g.128398546C>G | CA369169283 | IMPDH1 | c.834G>C (p.Lys278Asn) n.817G>C c.942G>C (p.Lys314Asn) c.574G>C c.912G>C (p.Lys304Asn) c.843G>C (p.Lys281Asn) n.531G>C c.707G>C c.684G>C (p.Lys228Asn) c.672G>C (p.Lys224Asn) c.817G>C (n.817G>C) c.612G>C (p.Lys204Asn) c.735G>C (p.Lys245Asn) c.687G>C (p.Lys229Asn) c.711G>C (p.Lys237Asn) c.324G>C (p.Lys108Asn) | ClinVar |
7 | g.128398546C>T | CA457528340 | IMPDH1 | c.834G>A (p.Lys278=) n.817G>A c.942G>A (p.Lys314=) c.574G>A c.912G>A (p.Lys304=) c.843G>A (p.Lys281=) n.531G>A c.707G>A c.684G>A (p.Lys228=) c.672G>A (p.Lys224=) c.817G>A (n.817G>A) c.612G>A (p.Lys204=) c.735G>A (p.Lys245=) c.687G>A (p.Lys229=) c.711G>A (p.Lys237=) c.324G>A (p.Lys108=) | |
7 | g.128398547T>A | CA369169297 | IMPDH1 | c.833A>T (p.Lys278Met) n.816A>T c.941A>T (p.Lys314Met) c.573A>T c.911A>T (p.Lys304Met) c.842A>T (p.Lys281Met) n.530A>T c.706A>T c.683A>T (p.Lys228Met) c.671A>T (p.Lys224Met) c.816A>T (n.816A>T) c.611A>T (p.Lys204Met) c.734A>T (p.Lys245Met) c.686A>T (p.Lys229Met) c.710A>T (p.Lys237Met) c.323A>T (p.Lys108Met) | |
7 | g.128398547T>C | CA369169310 | IMPDH1 | c.833A>G (p.Lys278Arg) n.816A>G c.941A>G (p.Lys314Arg) c.573A>G c.911A>G (p.Lys304Arg) c.842A>G (p.Lys281Arg) n.530A>G c.706A>G c.683A>G (p.Lys228Arg) c.671A>G (p.Lys224Arg) c.816A>G (n.816A>G) c.611A>G (p.Lys204Arg) c.734A>G (p.Lys245Arg) c.686A>G (p.Lys229Arg) c.710A>G (p.Lys237Arg) c.323A>G (p.Lys108Arg) | |
7 | g.128398547T>G | CA369169321 | IMPDH1 | c.833A>C (p.Lys278Thr) n.816A>C c.941A>C (p.Lys314Thr) c.573A>C c.911A>C (p.Lys304Thr) c.842A>C (p.Lys281Thr) n.530A>C c.706A>C c.683A>C (p.Lys228Thr) c.671A>C (p.Lys224Thr) c.816A>C (n.816A>C) c.611A>C (p.Lys204Thr) c.734A>C (p.Lys245Thr) c.686A>C (p.Lys229Thr) c.710A>C (p.Lys237Thr) c.323A>C (p.Lys108Thr) | |
7 | g.128398548T>A | CA369169328 | IMPDH1 | c.832A>T (p.Lys278Ter) n.815A>T c.940A>T (p.Lys314Ter) c.572A>T c.910A>T (p.Lys304Ter) c.841A>T (p.Lys281Ter) n.529A>T c.705A>T c.682A>T (p.Lys228Ter) c.670A>T (p.Lys224Ter) c.815A>T (n.815A>T) c.610A>T (p.Lys204Ter) c.733A>T (p.Lys245Ter) c.685A>T (p.Lys229Ter) c.709A>T (p.Lys237Ter) c.322A>T (p.Lys108Ter) | |
7 | g.128398548T>C | CA166126091 | IMPDH1 | c.832A>G (p.Lys278Glu) n.815A>G c.940A>G (p.Lys314Glu) c.572A>G c.910A>G (p.Lys304Glu) c.841A>G (p.Lys281Glu) n.529A>G c.705A>G c.682A>G (p.Lys228Glu) c.670A>G (p.Lys224Glu) c.815A>G (n.815A>G) c.610A>G (p.Lys204Glu) c.733A>G (p.Lys245Glu) c.685A>G (p.Lys229Glu) c.709A>G (p.Lys237Glu) c.322A>G (p.Lys108Glu) | ClinVar dbSNP |
7 | g.128398548T>G | CA369169337 | IMPDH1 | c.832A>C (p.Lys278Gln) n.815A>C c.940A>C (p.Lys314Gln) c.572A>C c.910A>C (p.Lys304Gln) c.841A>C (p.Lys281Gln) n.529A>C c.705A>C c.682A>C (p.Lys228Gln) c.670A>C (p.Lys224Gln) c.815A>C (n.815A>C) c.610A>C (p.Lys204Gln) c.733A>C (p.Lys245Gln) c.685A>C (p.Lys229Gln) c.709A>C (p.Lys237Gln) c.322A>C (p.Lys108Gln) | |
7 | g.128398548T= | CA1742328306 | IMPDH1 | c.832A= (p.Lys278=) n.815A= c.940A= (p.Lys314=) c.572A= c.910A= (p.Lys304=) c.841A= (p.Lys281=) n.529A= c.705A= c.682A= (p.Lys228=) c.670A= (p.Lys224=) c.815A= (n.815A=) c.610A= (p.Lys204=) c.733A= (p.Lys245=) c.685A= (p.Lys229=) c.709A= (p.Lys237=) c.322A= (p.Lys108=) | |
7 | g.128398548_128398549insGAA | CA916082962 | IMPDH1 | c.831_832insTTC (p.Lys277_Lys278insPhe) n.814_815insTTC c.939_940insTTC (p.Lys313_Lys314insPhe) c.571_572insTTC c.909_910insTTC (p.Lys303_Lys304insPhe) c.840_841insTTC (p.Lys280_Lys281insPhe) n.528_529insTTC c.704_705insTTC c.681_682insTTC (p.Lys227_Lys228insPhe) c.669_670insTTC (p.Lys223_Lys224insPhe) c.814_815insTTC (n.814_815insTTC) c.609_610insTTC (p.Lys203_Lys204insPhe) c.732_733insTTC (p.Lys244_Lys245insPhe) c.684_685insTTC (p.Lys228_Lys229insPhe) c.708_709insTTC (p.Lys236_Lys237insPhe) c.321_322insTTC (p.Lys107_Lys108insPhe) | ClinVar dbSNP |
7 | g.128398549C>A | CA369169338 | IMPDH1 | c.831G>T (p.Lys277Asn) n.814G>T c.939G>T (p.Lys313Asn) c.571G>T c.909G>T (p.Lys303Asn) c.840G>T (p.Lys280Asn) n.528G>T c.704G>T c.681G>T (p.Lys227Asn) c.669G>T (p.Lys223Asn) c.814G>T (n.814G>T) c.609G>T (p.Lys203Asn) c.732G>T (p.Lys244Asn) c.684G>T (p.Lys228Asn) c.708G>T (p.Lys236Asn) c.321G>T (p.Lys107Asn) | |
7 | g.128398549C>G | CA369169339 | IMPDH1 | c.831G>C (p.Lys277Asn) n.814G>C c.939G>C (p.Lys313Asn) c.571G>C c.909G>C (p.Lys303Asn) c.840G>C (p.Lys280Asn) n.528G>C c.704G>C c.681G>C (p.Lys227Asn) c.669G>C (p.Lys223Asn) c.814G>C (n.814G>C) c.609G>C (p.Lys203Asn) c.732G>C (p.Lys244Asn) c.684G>C (p.Lys228Asn) c.708G>C (p.Lys236Asn) c.321G>C (p.Lys107Asn) | |
7 | g.128398549C>T | CA457528344 | IMPDH1 | c.831G>A (p.Lys277=) n.814G>A c.939G>A (p.Lys313=) c.571G>A c.909G>A (p.Lys303=) c.840G>A (p.Lys280=) n.528G>A c.704G>A c.681G>A (p.Lys227=) c.669G>A (p.Lys223=) c.814G>A (n.814G>A) c.609G>A (p.Lys203=) c.732G>A (p.Lys244=) c.684G>A (p.Lys228=) c.708G>A (p.Lys236=) c.321G>A (p.Lys107=) | |
7 | g.128398550T>A | CA369169344 | IMPDH1 | c.830A>T (p.Lys277Met) n.813A>T c.938A>T (p.Lys313Met) c.570A>T c.908A>T (p.Lys303Met) c.839A>T (p.Lys280Met) n.527A>T c.703A>T c.680A>T (p.Lys227Met) c.668A>T (p.Lys223Met) c.813A>T (n.813A>T) c.608A>T (p.Lys203Met) c.731A>T (p.Lys244Met) c.683A>T (p.Lys228Met) c.707A>T (p.Lys236Met) c.320A>T (p.Lys107Met) | |
7 | g.128398550T>C | CA369169351 | IMPDH1 | c.830A>G (p.Lys277Arg) n.813A>G c.938A>G (p.Lys313Arg) c.570A>G c.908A>G (p.Lys303Arg) c.839A>G (p.Lys280Arg) n.527A>G c.703A>G c.680A>G (p.Lys227Arg) c.668A>G (p.Lys223Arg) c.813A>G (n.813A>G) c.608A>G (p.Lys203Arg) c.731A>G (p.Lys244Arg) c.683A>G (p.Lys228Arg) c.707A>G (p.Lys236Arg) c.320A>G (p.Lys107Arg) | gnomAD v4 |
7 | g.128398550T>G | CA369169347 | IMPDH1 | c.830A>C (p.Lys277Thr) n.813A>C c.938A>C (p.Lys313Thr) c.570A>C c.908A>C (p.Lys303Thr) c.839A>C (p.Lys280Thr) n.527A>C c.703A>C c.680A>C (p.Lys227Thr) c.668A>C (p.Lys223Thr) c.813A>C (n.813A>C) c.608A>C (p.Lys203Thr) c.731A>C (p.Lys244Thr) c.683A>C (p.Lys228Thr) c.707A>C (p.Lys236Thr) c.320A>C (p.Lys107Thr) | |
7 | g.128398551T>A | CA369169354 | IMPDH1 | c.829A>T (p.Lys277Ter) n.812A>T c.937A>T (p.Lys313Ter) c.569A>T c.907A>T (p.Lys303Ter) c.838A>T (p.Lys280Ter) n.526A>T c.702A>T c.679A>T (p.Lys227Ter) c.667A>T (p.Lys223Ter) c.812A>T (n.812A>T) c.607A>T (p.Lys203Ter) c.730A>T (p.Lys244Ter) c.682A>T (p.Lys228Ter) c.706A>T (p.Lys236Ter) c.319A>T (p.Lys107Ter) | |
7 | g.128398551T>C | CA369169366 | IMPDH1 | c.829A>G (p.Lys277Glu) n.812A>G c.937A>G (p.Lys313Glu) c.569A>G c.907A>G (p.Lys303Glu) c.838A>G (p.Lys280Glu) n.526A>G c.702A>G c.679A>G (p.Lys227Glu) c.667A>G (p.Lys223Glu) c.812A>G (n.812A>G) c.607A>G (p.Lys203Glu) c.730A>G (p.Lys244Glu) c.682A>G (p.Lys228Glu) c.706A>G (p.Lys236Glu) c.319A>G (p.Lys107Glu) | |
7 | g.128398551T>G | CA369169356 | IMPDH1 | c.829A>C (p.Lys277Gln) n.812A>C c.937A>C (p.Lys313Gln) c.569A>C c.907A>C (p.Lys303Gln) c.838A>C (p.Lys280Gln) n.526A>C c.702A>C c.679A>C (p.Lys227Gln) c.667A>C (p.Lys223Gln) c.812A>C (n.812A>C) c.607A>C (p.Lys203Gln) c.730A>C (p.Lys244Gln) c.682A>C (p.Lys228Gln) c.706A>C (p.Lys236Gln) c.319A>C (p.Lys107Gln) | |
7 | g.128398552C>A | CA457528345 | IMPDH1 | c.828G>T (p.Leu276=) n.811G>T c.936G>T (p.Leu312=) c.568G>T c.906G>T (p.Leu302=) c.837G>T (p.Leu279=) n.525G>T c.701G>T c.678G>T (p.Leu226=) c.666G>T (p.Leu222=) c.811G>T (n.811G>T) c.606G>T (p.Leu202=) c.729G>T (p.Leu243=) c.681G>T (p.Leu227=) c.705G>T (p.Leu235=) c.318G>T (p.Leu106=) | |
7 | g.128398552C>G | CA457528347 | IMPDH1 | c.828G>C (p.Leu276=) n.811G>C c.936G>C (p.Leu312=) c.568G>C c.906G>C (p.Leu302=) c.837G>C (p.Leu279=) n.525G>C c.701G>C c.678G>C (p.Leu226=) c.666G>C (p.Leu222=) c.811G>C (n.811G>C) c.606G>C (p.Leu202=) c.729G>C (p.Leu243=) c.681G>C (p.Leu227=) c.705G>C (p.Leu235=) c.318G>C (p.Leu106=) | |
7 | g.128398552C>T | CA457528346 | IMPDH1 | c.828G>A (p.Leu276=) n.811G>A c.936G>A (p.Leu312=) c.568G>A c.906G>A (p.Leu302=) c.837G>A (p.Leu279=) n.525G>A c.701G>A c.678G>A (p.Leu226=) c.666G>A (p.Leu222=) c.811G>A (n.811G>A) c.606G>A (p.Leu202=) c.729G>A (p.Leu243=) c.681G>A (p.Leu227=) c.705G>A (p.Leu235=) c.318G>A (p.Leu106=) | |
7 | g.128398553A>C | CA369169374 | IMPDH1 | c.827T>G (p.Leu276Arg) n.810T>G c.935T>G (p.Leu312Arg) c.567T>G c.905T>G (p.Leu302Arg) c.836T>G (p.Leu279Arg) n.524T>G c.700T>G c.677T>G (p.Leu226Arg) c.665T>G (p.Leu222Arg) c.810T>G (n.810T>G) c.605T>G (p.Leu202Arg) c.728T>G (p.Leu243Arg) c.680T>G (p.Leu227Arg) c.704T>G (p.Leu235Arg) c.317T>G (p.Leu106Arg) | |
7 | g.128398553A>G | CA369169375 | IMPDH1 | c.827T>C (p.Leu276Pro) n.810T>C c.935T>C (p.Leu312Pro) c.567T>C c.905T>C (p.Leu302Pro) c.836T>C (p.Leu279Pro) n.524T>C c.700T>C c.677T>C (p.Leu226Pro) c.665T>C (p.Leu222Pro) c.810T>C (n.810T>C) c.605T>C (p.Leu202Pro) c.728T>C (p.Leu243Pro) c.680T>C (p.Leu227Pro) c.704T>C (p.Leu235Pro) c.317T>C (p.Leu106Pro) | ClinVar |
7 | g.128398553A>T | CA369169386 | IMPDH1 | c.827T>A (p.Leu276Gln) n.810T>A c.935T>A (p.Leu312Gln) c.567T>A c.905T>A (p.Leu302Gln) c.836T>A (p.Leu279Gln) n.524T>A c.700T>A c.677T>A (p.Leu226Gln) c.665T>A (p.Leu222Gln) c.810T>A (n.810T>A) c.605T>A (p.Leu202Gln) c.728T>A (p.Leu243Gln) c.680T>A (p.Leu227Gln) c.704T>A (p.Leu235Gln) c.317T>A (p.Leu106Gln) | |
7 | g.128398554G>A | CA457528349 | IMPDH1 | c.826C>T (p.Leu276=) n.809C>T c.934C>T (p.Leu312=) c.566C>T c.904C>T (p.Leu302=) c.835C>T (p.Leu279=) n.523C>T c.699C>T c.676C>T (p.Leu226=) c.664C>T (p.Leu222=) c.809C>T (n.809C>T) c.604C>T (p.Leu202=) c.727C>T (p.Leu243=) c.679C>T (p.Leu227=) c.703C>T (p.Leu235=) c.316C>T (p.Leu106=) | dbSNP |
7 | g.128398554G>C | CA369169391 | IMPDH1 | c.826C>G (p.Leu276Val) n.809C>G c.934C>G (p.Leu312Val) c.566C>G c.904C>G (p.Leu302Val) c.835C>G (p.Leu279Val) n.523C>G c.699C>G c.676C>G (p.Leu226Val) c.664C>G (p.Leu222Val) c.809C>G (n.809C>G) c.604C>G (p.Leu202Val) c.727C>G (p.Leu243Val) c.679C>G (p.Leu227Val) c.703C>G (p.Leu235Val) c.316C>G (p.Leu106Val) | gnomAD v4 |
7 | g.128398554G= | CA1742328336 | IMPDH1 | c.826C= (p.Leu276=) n.809C= c.934C= (p.Leu312=) c.566C= c.904C= (p.Leu302=) c.835C= (p.Leu279=) n.523C= c.699C= c.676C= (p.Leu226=) c.664C= (p.Leu222=) c.809C= (n.809C=) c.604C= (p.Leu202=) c.727C= (p.Leu243=) c.679C= (p.Leu227=) c.703C= (p.Leu235=) c.316C= (p.Leu106=) | |
7 | g.128398554G>T | CA369169396 | IMPDH1 | c.826C>A (p.Leu276Met) n.809C>A c.934C>A (p.Leu312Met) c.566C>A c.904C>A (p.Leu302Met) c.835C>A (p.Leu279Met) n.523C>A c.699C>A c.676C>A (p.Leu226Met) c.664C>A (p.Leu222Met) c.809C>A (n.809C>A) c.604C>A (p.Leu202Met) c.727C>A (p.Leu243Met) c.679C>A (p.Leu227Met) c.703C>A (p.Leu235Met) c.316C>A (p.Leu106Met) | |
7 | g.128398555G>A | CA457528350 | IMPDH1 | c.825C>T (p.Asp275=) n.808C>T c.933C>T (p.Asp311=) c.565C>T c.903C>T (p.Asp301=) c.834C>T (p.Asp278=) n.522C>T c.698C>T c.675C>T (p.Asp225=) c.663C>T (p.Asp221=) c.808C>T (n.808C>T) c.603C>T (p.Asp201=) c.726C>T (p.Asp242=) c.678C>T (p.Asp226=) c.702C>T (p.Asp234=) c.315C>T (p.Asp105=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398555G>C | CA369169397 | IMPDH1 | c.825C>G (p.Asp275Glu) n.808C>G c.933C>G (p.Asp311Glu) c.565C>G c.903C>G (p.Asp301Glu) c.834C>G (p.Asp278Glu) n.522C>G c.698C>G c.675C>G (p.Asp225Glu) c.663C>G (p.Asp221Glu) c.808C>G (n.808C>G) c.603C>G (p.Asp201Glu) c.726C>G (p.Asp242Glu) c.678C>G (p.Asp226Glu) c.702C>G (p.Asp234Glu) c.315C>G (p.Asp105Glu) | |
7 | g.128398555G= | CA1742328341 | IMPDH1 | c.825C= (p.Asp275=) n.808C= c.933C= (p.Asp311=) c.565C= c.903C= (p.Asp301=) c.834C= (p.Asp278=) n.522C= c.698C= c.675C= (p.Asp225=) c.663C= (p.Asp221=) c.808C= (n.808C=) c.603C= (p.Asp201=) c.726C= (p.Asp242=) c.678C= (p.Asp226=) c.702C= (p.Asp234=) c.315C= (p.Asp105=) | |
7 | g.128398555G>T | CA369169398 | IMPDH1 | c.825C>A (p.Asp275Glu) n.808C>A c.933C>A (p.Asp311Glu) c.565C>A c.903C>A (p.Asp301Glu) c.834C>A (p.Asp278Glu) n.522C>A c.698C>A c.675C>A (p.Asp225Glu) c.663C>A (p.Asp221Glu) c.808C>A (n.808C>A) c.603C>A (p.Asp201Glu) c.726C>A (p.Asp242Glu) c.678C>A (p.Asp226Glu) c.702C>A (p.Asp234Glu) c.315C>A (p.Asp105Glu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398556T>A | CA369169402 | IMPDH1 | c.824A>T (p.Asp275Val) n.807A>T c.932A>T (p.Asp311Val) c.564A>T c.902A>T (p.Asp301Val) c.833A>T (p.Asp278Val) n.521A>T c.697A>T c.674A>T (p.Asp225Val) c.662A>T (p.Asp221Val) c.807A>T (n.807A>T) c.602A>T (p.Asp201Val) c.725A>T (p.Asp242Val) c.677A>T (p.Asp226Val) c.701A>T (p.Asp234Val) c.314A>T (p.Asp105Val) | |
7 | g.128398556T>C | CA369169403 | IMPDH1 | c.824A>G (p.Asp275Gly) n.807A>G c.932A>G (p.Asp311Gly) c.564A>G c.902A>G (p.Asp301Gly) c.833A>G (p.Asp278Gly) n.521A>G c.697A>G c.674A>G (p.Asp225Gly) c.662A>G (p.Asp221Gly) c.807A>G (n.807A>G) c.602A>G (p.Asp201Gly) c.725A>G (p.Asp242Gly) c.677A>G (p.Asp226Gly) c.701A>G (p.Asp234Gly) c.314A>G (p.Asp105Gly) | ClinVar dbSNP |
7 | g.128398556T>G | CA369169404 | IMPDH1 | c.824A>C (p.Asp275Ala) n.807A>C c.932A>C (p.Asp311Ala) c.564A>C c.902A>C (p.Asp301Ala) c.833A>C (p.Asp278Ala) n.521A>C c.697A>C c.674A>C (p.Asp225Ala) c.662A>C (p.Asp221Ala) c.807A>C (n.807A>C) c.602A>C (p.Asp201Ala) c.725A>C (p.Asp242Ala) c.677A>C (p.Asp226Ala) c.701A>C (p.Asp234Ala) c.314A>C (p.Asp105Ala) | |
7 | g.128398556T= | CA1742328345 | IMPDH1 | c.824A= (p.Asp275=) n.807A= c.932A= (p.Asp311=) c.564A= c.902A= (p.Asp301=) c.833A= (p.Asp278=) n.521A= c.697A= c.674A= (p.Asp225=) c.662A= (p.Asp221=) c.807A= (n.807A=) c.602A= (p.Asp201=) c.725A= (p.Asp242=) c.677A= (p.Asp226=) c.701A= (p.Asp234=) c.314A= (p.Asp105=) | |
7 | g.128398557C>A | CA369169405 | IMPDH1 | c.823G>T (p.Asp275Tyr) n.806G>T c.931G>T (p.Asp311Tyr) c.563G>T c.901G>T (p.Asp301Tyr) c.832G>T (p.Asp278Tyr) n.520G>T c.696G>T c.673G>T (p.Asp225Tyr) c.661G>T (p.Asp221Tyr) c.806G>T (n.806G>T) c.601G>T (p.Asp201Tyr) c.724G>T (p.Asp242Tyr) c.676G>T (p.Asp226Tyr) c.700G>T (p.Asp234Tyr) c.313G>T (p.Asp105Tyr) | gnomAD v4 |
7 | g.128398557C= | CA1742328359 | IMPDH1 | c.823G= (p.Asp275=) n.806G= c.931G= (p.Asp311=) c.563G= c.901G= (p.Asp301=) c.832G= (p.Asp278=) n.520G= c.696G= c.673G= (p.Asp225=) c.661G= (p.Asp221=) c.806G= (n.806G=) c.601G= (p.Asp201=) c.724G= (p.Asp242=) c.676G= (p.Asp226=) c.700G= (p.Asp234=) c.313G= (p.Asp105=) | |
7 | g.128398557C>G | CA369169408 | IMPDH1 | c.823G>C (p.Asp275His) n.806G>C c.931G>C (p.Asp311His) c.563G>C c.901G>C (p.Asp301His) c.832G>C (p.Asp278His) n.520G>C c.696G>C c.673G>C (p.Asp225His) c.661G>C (p.Asp221His) c.806G>C (n.806G>C) c.601G>C (p.Asp201His) c.724G>C (p.Asp242His) c.676G>C (p.Asp226His) c.700G>C (p.Asp234His) c.313G>C (p.Asp105His) | |
7 | g.128398557C>T | CA257369 | IMPDH1 | c.823G>A (p.Asp275Asn) n.806G>A c.931G>A (p.Asp311Asn) c.563G>A c.901G>A (p.Asp301Asn) c.832G>A (p.Asp278Asn) n.520G>A c.696G>A c.673G>A (p.Asp225Asn) c.661G>A (p.Asp221Asn) c.806G>A (n.806G>A) c.601G>A (p.Asp201Asn) c.724G>A (p.Asp242Asn) c.676G>A (p.Asp226Asn) c.700G>A (p.Asp234Asn) c.313G>A (p.Asp105Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128398558G>A | CA4470984 | IMPDH1 | c.822C>T (p.Thr274=) n.805C>T c.930C>T (p.Thr310=) c.562C>T c.900C>T (p.Thr300=) c.831C>T (p.Thr277=) n.519C>T c.695C>T c.672C>T (p.Thr224=) c.660C>T (p.Thr220=) c.805C>T (n.805C>T) c.600C>T (p.Thr200=) c.723C>T (p.Thr241=) c.675C>T (p.Thr225=) c.699C>T (p.Thr233=) c.312C>T (p.Thr104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398558G>C | CA457528354 | IMPDH1 | c.822C>G (p.Thr274=) n.805C>G c.930C>G (p.Thr310=) c.562C>G c.900C>G (p.Thr300=) c.831C>G (p.Thr277=) n.519C>G c.695C>G c.672C>G (p.Thr224=) c.660C>G (p.Thr220=) c.805C>G (n.805C>G) c.600C>G (p.Thr200=) c.723C>G (p.Thr241=) c.675C>G (p.Thr225=) c.699C>G (p.Thr233=) c.312C>G (p.Thr104=) | dbSNP |
7 | g.128398558G= | CA1742328376 | IMPDH1 | c.822C= (p.Thr274=) n.805C= c.930C= (p.Thr310=) c.562C= c.900C= (p.Thr300=) c.831C= (p.Thr277=) n.519C= c.695C= c.672C= (p.Thr224=) c.660C= (p.Thr220=) c.805C= (n.805C=) c.600C= (p.Thr200=) c.723C= (p.Thr241=) c.675C= (p.Thr225=) c.699C= (p.Thr233=) c.312C= (p.Thr104=) | |
7 | g.128398558G>T | CA457528356 | IMPDH1 | c.822C>A (p.Thr274=) n.805C>A c.930C>A (p.Thr310=) c.562C>A c.900C>A (p.Thr300=) c.831C>A (p.Thr277=) n.519C>A c.695C>A c.672C>A (p.Thr224=) c.660C>A (p.Thr220=) c.805C>A (n.805C>A) c.600C>A (p.Thr200=) c.723C>A (p.Thr241=) c.675C>A (p.Thr225=) c.699C>A (p.Thr233=) c.312C>A (p.Thr104=) | |
7 | g.128398559G>A | CA369169418 | IMPDH1 | c.821C>T (p.Thr274Ile) n.804C>T c.929C>T (p.Thr310Ile) c.561C>T c.899C>T (p.Thr300Ile) c.830C>T (p.Thr277Ile) n.518C>T c.694C>T c.671C>T (p.Thr224Ile) c.659C>T (p.Thr220Ile) c.804C>T (n.804C>T) c.599C>T (p.Thr200Ile) c.722C>T (p.Thr241Ile) c.674C>T (p.Thr225Ile) c.698C>T (p.Thr233Ile) c.311C>T (p.Thr104Ile) | |
7 | g.128398559G>C | CA369169421 | IMPDH1 | c.821C>G (p.Thr274Ser) n.804C>G c.929C>G (p.Thr310Ser) c.561C>G c.899C>G (p.Thr300Ser) c.830C>G (p.Thr277Ser) n.518C>G c.694C>G c.671C>G (p.Thr224Ser) c.659C>G (p.Thr220Ser) c.804C>G (n.804C>G) c.599C>G (p.Thr200Ser) c.722C>G (p.Thr241Ser) c.674C>G (p.Thr225Ser) c.698C>G (p.Thr233Ser) c.311C>G (p.Thr104Ser) | |
7 | g.128398559G>T | CA369169429 | IMPDH1 | c.821C>A (p.Thr274Asn) n.804C>A c.929C>A (p.Thr310Asn) c.561C>A c.899C>A (p.Thr300Asn) c.830C>A (p.Thr277Asn) n.518C>A c.694C>A c.671C>A (p.Thr224Asn) c.659C>A (p.Thr220Asn) c.804C>A (n.804C>A) c.599C>A (p.Thr200Asn) c.722C>A (p.Thr241Asn) c.674C>A (p.Thr225Asn) c.698C>A (p.Thr233Asn) c.311C>A (p.Thr104Asn) | |
7 | g.128398560T>A | CA369169432 | IMPDH1 | c.820A>T (p.Thr274Ser) n.803A>T c.928A>T (p.Thr310Ser) c.560A>T c.898A>T (p.Thr300Ser) c.829A>T (p.Thr277Ser) n.517A>T c.693A>T c.670A>T (p.Thr224Ser) c.658A>T (p.Thr220Ser) c.803A>T (n.803A>T) c.598A>T (p.Thr200Ser) c.721A>T (p.Thr241Ser) c.673A>T (p.Thr225Ser) c.697A>T (p.Thr233Ser) c.310A>T (p.Thr104Ser) | |
7 | g.128398560T>C | CA369169445 | IMPDH1 | c.820A>G (p.Thr274Ala) n.803A>G c.928A>G (p.Thr310Ala) c.560A>G c.898A>G (p.Thr300Ala) c.829A>G (p.Thr277Ala) n.517A>G c.693A>G c.670A>G (p.Thr224Ala) c.658A>G (p.Thr220Ala) c.803A>G (n.803A>G) c.598A>G (p.Thr200Ala) c.721A>G (p.Thr241Ala) c.673A>G (p.Thr225Ala) c.697A>G (p.Thr233Ala) c.310A>G (p.Thr104Ala) | |
7 | g.128398560T>G | CA16043423 | IMPDH1 | c.820A>C (p.Thr274Pro) n.803A>C c.928A>C (p.Thr310Pro) c.560A>C c.898A>C (p.Thr300Pro) c.829A>C (p.Thr277Pro) n.517A>C c.693A>C c.670A>C (p.Thr224Pro) c.658A>C (p.Thr220Pro) c.803A>C (n.803A>C) c.598A>C (p.Thr200Pro) c.721A>C (p.Thr241Pro) c.673A>C (p.Thr225Pro) c.697A>C (p.Thr233Pro) c.310A>C (p.Thr104Pro) | ClinVar dbSNP |
7 | g.128398560T= | CA1742328387 | IMPDH1 | c.820A= (p.Thr274=) n.803A= c.928A= (p.Thr310=) c.560A= c.898A= (p.Thr300=) c.829A= (p.Thr277=) n.517A= c.693A= c.670A= (p.Thr224=) c.658A= (p.Thr220=) c.803A= (n.803A=) c.598A= (p.Thr200=) c.721A= (p.Thr241=) c.673A= (p.Thr225=) c.697A= (p.Thr233=) c.310A= (p.Thr104=) | |
7 | g.128398561G>A | CA457528361 | IMPDH1 | c.819C>T (p.Arg273=) n.802C>T c.927C>T (p.Arg309=) c.559C>T c.897C>T (p.Arg299=) c.828C>T (p.Arg276=) n.516C>T c.692C>T c.669C>T (p.Arg223=) c.657C>T (p.Arg219=) c.802C>T (n.802C>T) c.597C>T (p.Arg199=) c.720C>T (p.Arg240=) c.672C>T (p.Arg224=) c.696C>T (p.Arg232=) c.309C>T (p.Arg103=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.128398561G>C | CA457528362 | IMPDH1 | c.819C>G (p.Arg273=) n.802C>G c.927C>G (p.Arg309=) c.559C>G c.897C>G (p.Arg299=) c.828C>G (p.Arg276=) n.516C>G c.692C>G c.669C>G (p.Arg223=) c.657C>G (p.Arg219=) c.802C>G (n.802C>G) c.597C>G (p.Arg199=) c.720C>G (p.Arg240=) c.672C>G (p.Arg224=) c.696C>G (p.Arg232=) c.309C>G (p.Arg103=) | |
7 | g.128398561G= | CA1742328393 | IMPDH1 | c.819C= (p.Arg273=) n.802C= c.927C= (p.Arg309=) c.559C= c.897C= (p.Arg299=) c.828C= (p.Arg276=) n.516C= c.692C= c.669C= (p.Arg223=) c.657C= (p.Arg219=) c.802C= (n.802C=) c.597C= (p.Arg199=) c.720C= (p.Arg240=) c.672C= (p.Arg224=) c.696C= (p.Arg232=) c.309C= (p.Arg103=) | |
7 | g.128398561G>T | CA457528364 | IMPDH1 | c.819C>A (p.Arg273=) n.802C>A c.927C>A (p.Arg309=) c.559C>A c.897C>A (p.Arg299=) c.828C>A (p.Arg276=) n.516C>A c.692C>A c.669C>A (p.Arg223=) c.657C>A (p.Arg219=) c.802C>A (n.802C>A) c.597C>A (p.Arg199=) c.720C>A (p.Arg240=) c.672C>A (p.Arg224=) c.696C>A (p.Arg232=) c.309C>A (p.Arg103=) | gnomAD v4 |
7 | g.128398562C>A | CA369169451 | IMPDH1 | c.818G>T (p.Arg273Leu) n.801G>T c.926G>T (p.Arg309Leu) c.558G>T c.896G>T (p.Arg299Leu) c.827G>T (p.Arg276Leu) n.515G>T c.691G>T c.668G>T (p.Arg223Leu) c.656G>T (p.Arg219Leu) c.801G>T (n.801G>T) c.596G>T (p.Arg199Leu) c.719G>T (p.Arg240Leu) c.671G>T (p.Arg224Leu) c.695G>T (p.Arg232Leu) c.308G>T (p.Arg103Leu) | |
7 | g.128398562C= | CA1742328398 | IMPDH1 | c.818G= (p.Arg273=) n.801G= c.926G= (p.Arg309=) c.558G= c.896G= (p.Arg299=) c.827G= (p.Arg276=) n.515G= c.691G= c.668G= (p.Arg223=) c.656G= (p.Arg219=) c.801G= (n.801G=) c.596G= (p.Arg199=) c.719G= (p.Arg240=) c.671G= (p.Arg224=) c.695G= (p.Arg232=) c.308G= (p.Arg103=) | |
7 | g.128398562C>G | CA257385 | IMPDH1 | c.818G>C (p.Arg273Pro) n.801G>C c.926G>C (p.Arg309Pro) c.558G>C c.896G>C (p.Arg299Pro) c.827G>C (p.Arg276Pro) n.515G>C c.691G>C c.668G>C (p.Arg223Pro) c.656G>C (p.Arg219Pro) c.801G>C (n.801G>C) c.596G>C (p.Arg199Pro) c.719G>C (p.Arg240Pro) c.671G>C (p.Arg224Pro) c.695G>C (p.Arg232Pro) c.308G>C (p.Arg103Pro) | ClinVar dbSNP |
7 | g.128398562C>T | CA369169456 | IMPDH1 | c.818G>A (p.Arg273His) n.801G>A c.926G>A (p.Arg309His) c.558G>A c.896G>A (p.Arg299His) c.827G>A (p.Arg276His) n.515G>A c.691G>A c.668G>A (p.Arg223His) c.656G>A (p.Arg219His) c.801G>A (n.801G>A) c.596G>A (p.Arg199His) c.719G>A (p.Arg240His) c.671G>A (p.Arg224His) c.695G>A (p.Arg232His) c.308G>A (p.Arg103His) | dbSNP gnomAD v4 |
7 | g.128398563G>A | CA4470985 | IMPDH1 | c.817C>T (p.Arg273Cys) n.800C>T c.925C>T (p.Arg309Cys) c.557C>T c.895C>T (p.Arg299Cys) c.826C>T (p.Arg276Cys) n.514C>T c.690C>T c.667C>T (p.Arg223Cys) c.655C>T (p.Arg219Cys) c.800C>T (n.800C>T) c.595C>T (p.Arg199Cys) c.718C>T (p.Arg240Cys) c.670C>T (p.Arg224Cys) c.694C>T (p.Arg232Cys) c.307C>T (p.Arg103Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398563G>C | CA369169459 | IMPDH1 | c.817C>G (p.Arg273Gly) n.800C>G c.925C>G (p.Arg309Gly) c.557C>G c.895C>G (p.Arg299Gly) c.826C>G (p.Arg276Gly) n.514C>G c.690C>G c.667C>G (p.Arg223Gly) c.655C>G (p.Arg219Gly) c.800C>G (n.800C>G) c.595C>G (p.Arg199Gly) c.718C>G (p.Arg240Gly) c.670C>G (p.Arg224Gly) c.694C>G (p.Arg232Gly) c.307C>G (p.Arg103Gly) | ClinVar |
7 | g.128398563G= | CA1742328411 | IMPDH1 | c.817C= (p.Arg273=) n.800C= c.925C= (p.Arg309=) c.557C= c.895C= (p.Arg299=) c.826C= (p.Arg276=) n.514C= c.690C= c.667C= (p.Arg223=) c.655C= (p.Arg219=) c.800C= (n.800C=) c.595C= (p.Arg199=) c.718C= (p.Arg240=) c.670C= (p.Arg224=) c.694C= (p.Arg232=) c.307C= (p.Arg103=) | |
7 | g.128398563G>T | CA369169464 | IMPDH1 | c.817C>A (p.Arg273Ser) n.800C>A c.925C>A (p.Arg309Ser) c.557C>A c.895C>A (p.Arg299Ser) c.826C>A (p.Arg276Ser) n.514C>A c.690C>A c.667C>A (p.Arg223Ser) c.655C>A (p.Arg219Ser) c.800C>A (n.800C>A) c.595C>A (p.Arg199Ser) c.718C>A (p.Arg240Ser) c.670C>A (p.Arg224Ser) c.694C>A (p.Arg232Ser) c.307C>A (p.Arg103Ser) | |
7 | g.128398564G>A | CA457528367 | IMPDH1 | c.816C>T (p.Ala272=) n.799C>T c.924C>T (p.Ala308=) c.556C>T c.894C>T (p.Ala298=) c.825C>T (p.Ala275=) n.513C>T c.689C>T c.666C>T (p.Ala222=) c.654C>T (p.Ala218=) c.799C>T (n.799C>T) c.594C>T (p.Ala198=) c.717C>T (p.Ala239=) c.669C>T (p.Ala223=) c.693C>T (p.Ala231=) c.306C>T (p.Ala102=) | |
7 | g.128398564G>C | CA457528368 | IMPDH1 | c.816C>G (p.Ala272=) n.799C>G c.924C>G (p.Ala308=) c.556C>G c.894C>G (p.Ala298=) c.825C>G (p.Ala275=) n.513C>G c.689C>G c.666C>G (p.Ala222=) c.654C>G (p.Ala218=) c.799C>G (n.799C>G) c.594C>G (p.Ala198=) c.717C>G (p.Ala239=) c.669C>G (p.Ala223=) c.693C>G (p.Ala231=) c.306C>G (p.Ala102=) | |
7 | g.128398564G>T | CA457528369 | IMPDH1 | c.816C>A (p.Ala272=) n.799C>A c.924C>A (p.Ala308=) c.556C>A c.894C>A (p.Ala298=) c.825C>A (p.Ala275=) n.513C>A c.689C>A c.666C>A (p.Ala222=) c.654C>A (p.Ala218=) c.799C>A (n.799C>A) c.594C>A (p.Ala198=) c.717C>A (p.Ala239=) c.669C>A (p.Ala223=) c.693C>A (p.Ala231=) c.306C>A (p.Ala102=) | |
7 | g.128398565G>A | CA369169469 | IMPDH1 | c.815C>T (p.Ala272Val) n.798C>T c.923C>T (p.Ala308Val) c.555C>T c.893C>T (p.Ala298Val) c.824C>T (p.Ala275Val) n.512C>T c.688C>T c.665C>T (p.Ala222Val) c.653C>T (p.Ala218Val) c.798C>T (n.798C>T) c.593C>T (p.Ala198Val) c.716C>T (p.Ala239Val) c.668C>T (p.Ala223Val) c.692C>T (p.Ala231Val) c.305C>T (p.Ala102Val) | |
7 | g.128398565G>C | CA369169468 | IMPDH1 | c.815C>G (p.Ala272Gly) n.798C>G c.923C>G (p.Ala308Gly) c.555C>G c.893C>G (p.Ala298Gly) c.824C>G (p.Ala275Gly) n.512C>G c.688C>G c.665C>G (p.Ala222Gly) c.653C>G (p.Ala218Gly) c.798C>G (n.798C>G) c.593C>G (p.Ala198Gly) c.716C>G (p.Ala239Gly) c.668C>G (p.Ala223Gly) c.692C>G (p.Ala231Gly) c.305C>G (p.Ala102Gly) | |
7 | g.128398565G>T | CA369169467 | IMPDH1 | c.815C>A (p.Ala272Asp) n.798C>A c.923C>A (p.Ala308Asp) c.555C>A c.893C>A (p.Ala298Asp) c.824C>A (p.Ala275Asp) n.512C>A c.688C>A c.665C>A (p.Ala222Asp) c.653C>A (p.Ala218Asp) c.798C>A (n.798C>A) c.593C>A (p.Ala198Asp) c.716C>A (p.Ala239Asp) c.668C>A (p.Ala223Asp) c.692C>A (p.Ala231Asp) c.305C>A (p.Ala102Asp) | |
7 | g.128398566C>A | CA369169470 | IMPDH1 | c.814G>T (p.Ala272Ser) n.797G>T c.922G>T (p.Ala308Ser) c.554G>T c.892G>T (p.Ala298Ser) c.823G>T (p.Ala275Ser) n.511G>T c.687G>T c.664G>T (p.Ala222Ser) c.652G>T (p.Ala218Ser) c.797G>T (n.797G>T) c.592G>T (p.Ala198Ser) c.715G>T (p.Ala239Ser) c.667G>T (p.Ala223Ser) c.691G>T (p.Ala231Ser) c.304G>T (p.Ala102Ser) | |
7 | g.128398566C= | CA1742328423 | IMPDH1 | c.814G= (p.Ala272=) n.797G= c.922G= (p.Ala308=) c.554G= c.892G= (p.Ala298=) c.823G= (p.Ala275=) n.511G= c.687G= c.664G= (p.Ala222=) c.652G= (p.Ala218=) c.797G= (n.797G=) c.592G= (p.Ala198=) c.715G= (p.Ala239=) c.667G= (p.Ala223=) c.691G= (p.Ala231=) c.304G= (p.Ala102=) | |
7 | g.128398566C>G | CA369169472 | IMPDH1 | c.814G>C (p.Ala272Pro) n.797G>C c.922G>C (p.Ala308Pro) c.554G>C c.892G>C (p.Ala298Pro) c.823G>C (p.Ala275Pro) n.511G>C c.687G>C c.664G>C (p.Ala222Pro) c.652G>C (p.Ala218Pro) c.797G>C (n.797G>C) c.592G>C (p.Ala198Pro) c.715G>C (p.Ala239Pro) c.667G>C (p.Ala223Pro) c.691G>C (p.Ala231Pro) c.304G>C (p.Ala102Pro) | |
7 | g.128398566C>T | CA369169473 | IMPDH1 | c.814G>A (p.Ala272Thr) n.797G>A c.922G>A (p.Ala308Thr) c.554G>A c.892G>A (p.Ala298Thr) c.823G>A (p.Ala275Thr) n.511G>A c.687G>A c.664G>A (p.Ala222Thr) c.652G>A (p.Ala218Thr) c.797G>A (n.797G>A) c.592G>A (p.Ala198Thr) c.715G>A (p.Ala239Thr) c.667G>A (p.Ala223Thr) c.691G>A (p.Ala231Thr) c.304G>A (p.Ala102Thr) | ClinVar dbSNP gnomAD v4 |
7 | g.128398567G>A | CA4470986 | IMPDH1 | c.813C>T (p.Ile271=) n.796C>T c.921C>T (p.Ile307=) c.553C>T c.891C>T (p.Ile297=) c.822C>T (p.Ile274=) n.510C>T c.686C>T c.663C>T (p.Ile221=) c.651C>T (p.Ile217=) c.796C>T (n.796C>T) c.591C>T (p.Ile197=) c.714C>T (p.Ile238=) c.666C>T (p.Ile222=) c.690C>T (p.Ile230=) c.303C>T (p.Ile101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.128398567G>C | CA369169474 | IMPDH1 | c.813C>G (p.Ile271Met) n.796C>G c.921C>G (p.Ile307Met) c.553C>G c.891C>G (p.Ile297Met) c.822C>G (p.Ile274Met) n.510C>G c.686C>G c.663C>G (p.Ile221Met) c.651C>G (p.Ile217Met) c.796C>G (n.796C>G) c.591C>G (p.Ile197Met) c.714C>G (p.Ile238Met) c.666C>G (p.Ile222Met) c.690C>G (p.Ile230Met) c.303C>G (p.Ile101Met) | |
7 | g.128398567G= | CA1742328430 | IMPDH1 | c.813C= (p.Ile271=) n.796C= c.921C= (p.Ile307=) c.553C= c.891C= (p.Ile297=) c.822C= (p.Ile274=) n.510C= c.686C= c.663C= (p.Ile221=) c.651C= (p.Ile217=) c.796C= (n.796C=) c.591C= (p.Ile197=) c.714C= (p.Ile238=) c.666C= (p.Ile222=) c.690C= (p.Ile230=) c.303C= (p.Ile101=) | |
7 | g.128398567G>T | CA457528373 | IMPDH1 | c.813C>A (p.Ile271=) n.796C>A c.921C>A (p.Ile307=) c.553C>A c.891C>A (p.Ile297=) c.822C>A (p.Ile274=) n.510C>A c.686C>A c.663C>A (p.Ile221=) c.651C>A (p.Ile217=) c.796C>A (n.796C>A) c.591C>A (p.Ile197=) c.714C>A (p.Ile238=) c.666C>A (p.Ile222=) c.690C>A (p.Ile230=) c.303C>A (p.Ile101=) | |
7 | g.128398568A>C | CA369169477 | IMPDH1 | c.812T>G (p.Ile271Ser) n.795T>G c.920T>G (p.Ile307Ser) c.552T>G c.890T>G (p.Ile297Ser) c.821T>G (p.Ile274Ser) n.509T>G c.685T>G c.662T>G (p.Ile221Ser) c.650T>G (p.Ile217Ser) c.795T>G (n.795T>G) c.590T>G (p.Ile197Ser) c.713T>G (p.Ile238Ser) c.665T>G (p.Ile222Ser) c.689T>G (p.Ile230Ser) c.302T>G (p.Ile101Ser) | |
7 | g.128398568A>G | CA369169480 | IMPDH1 | c.812T>C (p.Ile271Thr) n.795T>C c.920T>C (p.Ile307Thr) c.552T>C c.890T>C (p.Ile297Thr) c.821T>C (p.Ile274Thr) n.509T>C c.685T>C c.662T>C (p.Ile221Thr) c.650T>C (p.Ile217Thr) c.795T>C (n.795T>C) c.590T>C (p.Ile197Thr) c.713T>C (p.Ile238Thr) c.665T>C (p.Ile222Thr) c.689T>C (p.Ile230Thr) c.302T>C (p.Ile101Thr) | |
7 | g.128398568A>T | CA369169489 | IMPDH1 | c.812T>A (p.Ile271Asn) n.795T>A c.920T>A (p.Ile307Asn) c.552T>A c.890T>A (p.Ile297Asn) c.821T>A (p.Ile274Asn) n.509T>A c.685T>A c.662T>A (p.Ile221Asn) c.650T>A (p.Ile217Asn) c.795T>A (n.795T>A) c.590T>A (p.Ile197Asn) c.713T>A (p.Ile238Asn) c.665T>A (p.Ile222Asn) c.689T>A (p.Ile230Asn) c.302T>A (p.Ile101Asn) | |
7 | g.128398569T>A | CA369169495 | IMPDH1 | c.811A>T (p.Ile271Phe) n.794A>T c.919A>T (p.Ile307Phe) c.551A>T c.889A>T (p.Ile297Phe) c.820A>T (p.Ile274Phe) n.508A>T c.684A>T c.661A>T (p.Ile221Phe) c.649A>T (p.Ile217Phe) c.794A>T (n.794A>T) c.589A>T (p.Ile197Phe) c.712A>T (p.Ile238Phe) c.664A>T (p.Ile222Phe) c.688A>T (p.Ile230Phe) c.301A>T (p.Ile101Phe) | |
7 | g.128398569T>C | CA369169497 | IMPDH1 | c.811A>G (p.Ile271Val) n.794A>G c.919A>G (p.Ile307Val) c.551A>G c.889A>G (p.Ile297Val) c.820A>G (p.Ile274Val) n.508A>G c.684A>G c.661A>G (p.Ile221Val) c.649A>G (p.Ile217Val) c.794A>G (n.794A>G) c.589A>G (p.Ile197Val) c.712A>G (p.Ile238Val) c.664A>G (p.Ile222Val) c.688A>G (p.Ile230Val) c.301A>G (p.Ile101Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398569T>G | CA369169498 | IMPDH1 | c.811A>C (p.Ile271Leu) n.794A>C c.919A>C (p.Ile307Leu) c.551A>C c.889A>C (p.Ile297Leu) c.820A>C (p.Ile274Leu) n.508A>C c.684A>C c.661A>C (p.Ile221Leu) c.649A>C (p.Ile217Leu) c.794A>C (n.794A>C) c.589A>C (p.Ile197Leu) c.712A>C (p.Ile238Leu) c.664A>C (p.Ile222Leu) c.688A>C (p.Ile230Leu) c.301A>C (p.Ile101Leu) | dbSNP |
7 | g.128398569T= | CA1742328436 | IMPDH1 | c.811A= (p.Ile271=) n.794A= c.919A= (p.Ile307=) c.551A= c.889A= (p.Ile297=) c.820A= (p.Ile274=) n.508A= c.684A= c.661A= (p.Ile221=) c.649A= (p.Ile217=) c.794A= (n.794A=) c.589A= (p.Ile197=) c.712A= (p.Ile238=) c.664A= (p.Ile222=) c.688A= (p.Ile230=) c.301A= (p.Ile101=) | |
7 | g.128398570G>A | CA457528378 | IMPDH1 | c.810C>T (p.Ile270=) n.793C>T c.918C>T (p.Ile306=) c.550C>T c.888C>T (p.Ile296=) c.819C>T (p.Ile273=) n.507C>T c.683C>T c.660C>T (p.Ile220=) c.648C>T (p.Ile216=) c.793C>T (n.793C>T) c.588C>T (p.Ile196=) c.711C>T (p.Ile237=) c.663C>T (p.Ile221=) c.687C>T (p.Ile229=) c.300C>T (p.Ile100=) | COSMIC |
7 | g.128398570G>C | CA369169502 | IMPDH1 | c.810C>G (p.Ile270Met) n.793C>G c.918C>G (p.Ile306Met) c.550C>G c.888C>G (p.Ile296Met) c.819C>G (p.Ile273Met) n.507C>G c.683C>G c.660C>G (p.Ile220Met) c.648C>G (p.Ile216Met) c.793C>G (n.793C>G) c.588C>G (p.Ile196Met) c.711C>G (p.Ile237Met) c.663C>G (p.Ile221Met) c.687C>G (p.Ile229Met) c.300C>G (p.Ile100Met) | |
7 | g.128398570G>T | CA457528377 | IMPDH1 | c.810C>A (p.Ile270=) n.793C>A c.918C>A (p.Ile306=) c.550C>A c.888C>A (p.Ile296=) c.819C>A (p.Ile273=) n.507C>A c.683C>A c.660C>A (p.Ile220=) c.648C>A (p.Ile216=) c.793C>A (n.793C>A) c.588C>A (p.Ile196=) c.711C>A (p.Ile237=) c.663C>A (p.Ile221=) c.687C>A (p.Ile229=) c.300C>A (p.Ile100=) | |
7 | g.128398571A>C | CA369169517 | IMPDH1 | c.809T>G (p.Ile270Ser) n.792T>G c.917T>G (p.Ile306Ser) c.549T>G c.887T>G (p.Ile296Ser) c.818T>G (p.Ile273Ser) n.506T>G c.682T>G c.659T>G (p.Ile220Ser) c.647T>G (p.Ile216Ser) c.792T>G (n.792T>G) c.587T>G (p.Ile196Ser) c.710T>G (p.Ile237Ser) c.662T>G (p.Ile221Ser) c.686T>G (p.Ile229Ser) c.299T>G (p.Ile100Ser) | |
7 | g.128398571A>G | CA369169514 | IMPDH1 | c.809T>C (p.Ile270Thr) n.792T>C c.917T>C (p.Ile306Thr) c.549T>C c.887T>C (p.Ile296Thr) c.818T>C (p.Ile273Thr) n.506T>C c.682T>C c.659T>C (p.Ile220Thr) c.647T>C (p.Ile216Thr) c.792T>C (n.792T>C) c.587T>C (p.Ile196Thr) c.710T>C (p.Ile237Thr) c.662T>C (p.Ile221Thr) c.686T>C (p.Ile229Thr) c.299T>C (p.Ile100Thr) | gnomAD v4 |
7 | g.128398571A>T | CA369169509 | IMPDH1 | c.809T>A (p.Ile270Asn) n.792T>A c.917T>A (p.Ile306Asn) c.549T>A c.887T>A (p.Ile296Asn) c.818T>A (p.Ile273Asn) n.506T>A c.682T>A c.659T>A (p.Ile220Asn) c.647T>A (p.Ile216Asn) c.792T>A (n.792T>A) c.587T>A (p.Ile196Asn) c.710T>A (p.Ile237Asn) c.662T>A (p.Ile221Asn) c.686T>A (p.Ile229Asn) c.299T>A (p.Ile100Asn) | |
7 | g.128398572T>A | CA369169520 | IMPDH1 | c.808A>T (p.Ile270Phe) n.791A>T c.916A>T (p.Ile306Phe) c.548A>T c.886A>T (p.Ile296Phe) c.817A>T (p.Ile273Phe) n.505A>T c.681A>T c.658A>T (p.Ile220Phe) c.646A>T (p.Ile216Phe) c.791A>T (n.791A>T) c.586A>T (p.Ile196Phe) c.709A>T (p.Ile237Phe) c.661A>T (p.Ile221Phe) c.685A>T (p.Ile229Phe) c.298A>T (p.Ile100Phe) | |
7 | g.128398572T>C | CA369169528 | IMPDH1 | c.808A>G (p.Ile270Val) n.791A>G c.916A>G (p.Ile306Val) c.548A>G c.886A>G (p.Ile296Val) c.817A>G (p.Ile273Val) n.505A>G c.681A>G c.658A>G (p.Ile220Val) c.646A>G (p.Ile216Val) c.791A>G (n.791A>G) c.586A>G (p.Ile196Val) c.709A>G (p.Ile237Val) c.661A>G (p.Ile221Val) c.685A>G (p.Ile229Val) c.298A>G (p.Ile100Val) | |
7 | g.128398572T>G | CA369169532 | IMPDH1 | c.808A>C (p.Ile270Leu) n.791A>C c.916A>C (p.Ile306Leu) c.548A>C c.886A>C (p.Ile296Leu) c.817A>C (p.Ile273Leu) n.505A>C c.681A>C c.658A>C (p.Ile220Leu) c.646A>C (p.Ile216Leu) c.791A>C (n.791A>C) c.586A>C (p.Ile196Leu) c.709A>C (p.Ile237Leu) c.661A>C (p.Ile221Leu) c.685A>C (p.Ile229Leu) c.298A>C (p.Ile100Leu) | |
7 | g.128398573G>A | CA457528382 | IMPDH1 | c.807C>T (p.Ala269=) n.790C>T c.915C>T (p.Ala305=) c.547C>T c.885C>T (p.Ala295=) c.816C>T (p.Ala272=) n.504C>T c.680C>T c.657C>T (p.Ala219=) c.645C>T (p.Ala215=) c.790C>T (n.790C>T) c.585C>T (p.Ala195=) c.708C>T (p.Ala236=) c.660C>T (p.Ala220=) c.684C>T (p.Ala228=) c.297C>T (p.Ala99=) | |
7 | g.128398573G>C | CA457528383 | IMPDH1 | c.807C>G (p.Ala269=) n.790C>G c.915C>G (p.Ala305=) c.547C>G c.885C>G (p.Ala295=) c.816C>G (p.Ala272=) n.504C>G c.680C>G c.657C>G (p.Ala219=) c.645C>G (p.Ala215=) c.790C>G (n.790C>G) c.585C>G (p.Ala195=) c.708C>G (p.Ala236=) c.660C>G (p.Ala220=) c.684C>G (p.Ala228=) c.297C>G (p.Ala99=) | |
7 | g.128398573G>T | CA457528384 | IMPDH1 | c.807C>A (p.Ala269=) n.790C>A c.915C>A (p.Ala305=) c.547C>A c.885C>A (p.Ala295=) c.816C>A (p.Ala272=) n.504C>A c.680C>A c.657C>A (p.Ala219=) c.645C>A (p.Ala215=) c.790C>A (n.790C>A) c.585C>A (p.Ala195=) c.708C>A (p.Ala236=) c.660C>A (p.Ala220=) c.684C>A (p.Ala228=) c.297C>A (p.Ala99=) | |
7 | g.128398574G>A | CA4470987 | IMPDH1 | c.806C>T (p.Ala269Val) n.789C>T c.914C>T (p.Ala305Val) c.546C>T c.884C>T (p.Ala295Val) c.815C>T (p.Ala272Val) n.503C>T c.679C>T c.656C>T (p.Ala219Val) c.644C>T (p.Ala215Val) c.789C>T (n.789C>T) c.584C>T (p.Ala195Val) c.707C>T (p.Ala236Val) c.659C>T (p.Ala220Val) c.683C>T (p.Ala228Val) c.296C>T (p.Ala99Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.128398574G>C | CA369169543 | IMPDH1 | c.806C>G (p.Ala269Gly) n.789C>G c.914C>G (p.Ala305Gly) c.546C>G c.884C>G (p.Ala295Gly) c.815C>G (p.Ala272Gly) n.503C>G c.679C>G c.656C>G (p.Ala219Gly) c.644C>G (p.Ala215Gly) c.789C>G (n.789C>G) c.584C>G (p.Ala195Gly) c.707C>G (p.Ala236Gly) c.659C>G (p.Ala220Gly) c.683C>G (p.Ala228Gly) c.296C>G (p.Ala99Gly) | |
7 | g.128398574G= | CA1742328444 | IMPDH1 | c.806C= (p.Ala269=) n.789C= c.914C= (p.Ala305=) c.546C= c.884C= (p.Ala295=) c.815C= (p.Ala272=) n.503C= c.679C= c.656C= (p.Ala219=) c.644C= (p.Ala215=) c.789C= (n.789C=) c.584C= (p.Ala195=) c.707C= (p.Ala236=) c.659C= (p.Ala220=) c.683C= (p.Ala228=) c.296C= (p.Ala99=) | |
7 | g.128398574G>T | CA369169558 | IMPDH1 | c.806C>A (p.Ala269Asp) n.789C>A c.914C>A (p.Ala305Asp) c.546C>A c.884C>A (p.Ala295Asp) c.815C>A (p.Ala272Asp) n.503C>A c.679C>A c.656C>A (p.Ala219Asp) c.644C>A (p.Ala215Asp) c.789C>A (n.789C>A) c.584C>A (p.Ala195Asp) c.707C>A (p.Ala236Asp) c.659C>A (p.Ala220Asp) c.683C>A (p.Ala228Asp) c.296C>A (p.Ala99Asp) | |
7 | g.128398575C>A | CA369169568 | IMPDH1 | c.805G>T (p.Ala269Ser) n.788G>T c.913G>T (p.Ala305Ser) c.545G>T c.883G>T (p.Ala295Ser) c.814G>T (p.Ala272Ser) n.502G>T c.678G>T c.655G>T (p.Ala219Ser) c.643G>T (p.Ala215Ser) c.788G>T (n.788G>T) c.583G>T (p.Ala195Ser) c.706G>T (p.Ala236Ser) c.658G>T (p.Ala220Ser) c.682G>T (p.Ala228Ser) c.295G>T (p.Ala99Ser) | |
7 | g.128398575C>G | CA369169571 | IMPDH1 | c.805G>C (p.Ala269Pro) n.788G>C c.913G>C (p.Ala305Pro) c.545G>C c.883G>C (p.Ala295Pro) c.814G>C (p.Ala272Pro) n.502G>C c.678G>C c.655G>C (p.Ala219Pro) c.643G>C (p.Ala215Pro) c.788G>C (n.788G>C) c.583G>C (p.Ala195Pro) c.706G>C (p.Ala236Pro) c.658G>C (p.Ala220Pro) c.682G>C (p.Ala228Pro) c.295G>C (p.Ala99Pro) | |
7 | g.128398575C>T | CA369169573 | IMPDH1 | c.805G>A (p.Ala269Thr) n.788G>A c.913G>A (p.Ala305Thr) c.545G>A c.883G>A (p.Ala295Thr) c.814G>A (p.Ala272Thr) n.502G>A c.678G>A c.655G>A (p.Ala219Thr) c.643G>A (p.Ala215Thr) c.788G>A (n.788G>A) c.583G>A (p.Ala195Thr) c.706G>A (p.Ala236Thr) c.658G>A (p.Ala220Thr) c.682G>A (p.Ala228Thr) c.295G>A (p.Ala99Thr) | |
7 | g.128398576C>A | CA457528388 | IMPDH1 | c.804G>T (p.Val268=) n.787G>T c.912G>T (p.Val304=) c.544G>T c.882G>T (p.Val294=) c.813G>T (p.Val271=) n.501G>T c.677G>T c.654G>T (p.Val218=) c.642G>T (p.Val214=) c.787G>T (n.787G>T) c.582G>T (p.Val194=) c.705G>T (p.Val235=) c.657G>T (p.Val219=) c.681G>T (p.Val227=) c.294G>T (p.Val98=) | |
7 | g.128398576C>G | CA457528390 | IMPDH1 | c.804G>C (p.Val268=) n.787G>C c.912G>C (p.Val304=) c.544G>C c.882G>C (p.Val294=) c.813G>C (p.Val271=) n.501G>C c.677G>C c.654G>C (p.Val218=) c.642G>C (p.Val214=) c.787G>C (n.787G>C) c.582G>C (p.Val194=) c.705G>C (p.Val235=) c.657G>C (p.Val219=) c.681G>C (p.Val227=) c.294G>C (p.Val98=) | |
7 | g.128398576C>T | CA457528389 | IMPDH1 | c.804G>A (p.Val268=) n.787G>A c.912G>A (p.Val304=) c.544G>A c.882G>A (p.Val294=) c.813G>A (p.Val271=) n.501G>A c.677G>A c.654G>A (p.Val218=) c.642G>A (p.Val214=) c.787G>A (n.787G>A) c.582G>A (p.Val194=) c.705G>A (p.Val235=) c.657G>A (p.Val219=) c.681G>A (p.Val227=) c.294G>A (p.Val98=) | |
7 | g.128398577A>C | CA369169583 | IMPDH1 | c.803T>G (p.Val268Gly) n.786T>G c.911T>G (p.Val304Gly) c.543T>G c.881T>G (p.Val294Gly) c.812T>G (p.Val271Gly) n.500T>G c.676T>G c.653T>G (p.Val218Gly) c.641T>G (p.Val214Gly) c.786T>G (n.786T>G) c.581T>G (p.Val194Gly) c.704T>G (p.Val235Gly) c.656T>G (p.Val219Gly) c.680T>G (p.Val227Gly) c.293T>G (p.Val98Gly) | |
7 | g.128398577A>G | CA369169589 | IMPDH1 | c.803T>C (p.Val268Ala) n.786T>C c.911T>C (p.Val304Ala) c.543T>C c.881T>C (p.Val294Ala) c.812T>C (p.Val271Ala) n.500T>C c.676T>C c.653T>C (p.Val218Ala) c.641T>C (p.Val214Ala) c.786T>C (n.786T>C) c.581T>C (p.Val194Ala) c.704T>C (p.Val235Ala) c.656T>C (p.Val219Ala) c.680T>C (p.Val227Ala) c.293T>C (p.Val98Ala) | |
7 | g.128398577A>T | CA369169594 | IMPDH1 | c.803T>A (p.Val268Glu) n.786T>A c.911T>A (p.Val304Glu) c.543T>A c.881T>A (p.Val294Glu) c.812T>A (p.Val271Glu) n.500T>A c.676T>A c.653T>A (p.Val218Glu) c.641T>A (p.Val214Glu) c.786T>A (n.786T>A) c.581T>A (p.Val194Glu) c.704T>A (p.Val235Glu) c.656T>A (p.Val219Glu) c.680T>A (p.Val227Glu) c.293T>A (p.Val98Glu) | |
7 | g.128398578C>A | CA369169599 | IMPDH1 | c.802G>T (p.Val268Leu) n.785G>T c.910G>T (p.Val304Leu) c.542G>T c.880G>T (p.Val294Leu) c.811G>T (p.Val271Leu) n.499G>T c.675G>T c.652G>T (p.Val218Leu) c.640G>T (p.Val214Leu) c.785G>T (n.785G>T) c.580G>T (p.Val194Leu) c.703G>T (p.Val235Leu) c.655G>T (p.Val219Leu) c.679G>T (p.Val227Leu) c.292G>T (p.Val98Leu) | |
7 | g.128398578C>G | CA369169607 | IMPDH1 | c.802G>C (p.Val268Leu) n.785G>C c.910G>C (p.Val304Leu) c.542G>C c.880G>C (p.Val294Leu) c.811G>C (p.Val271Leu) n.499G>C c.675G>C c.652G>C (p.Val218Leu) c.640G>C (p.Val214Leu) c.785G>C (n.785G>C) c.580G>C (p.Val194Leu) c.703G>C (p.Val235Leu) c.655G>C (p.Val219Leu) c.679G>C (p.Val227Leu) c.292G>C (p.Val98Leu) | |
7 | g.128398578C>T | CA369169604 | IMPDH1 | c.802G>A (p.Val268Met) n.785G>A c.910G>A (p.Val304Met) c.542G>A c.880G>A (p.Val294Met) c.811G>A (p.Val271Met) n.499G>A c.675G>A c.652G>A (p.Val218Met) c.640G>A (p.Val214Met) c.785G>A (n.785G>A) c.580G>A (p.Val194Met) c.703G>A (p.Val235Met) c.655G>A (p.Val219Met) c.679G>A (p.Val227Met) c.292G>A (p.Val98Met) | |
7 | g.128398579C>A | CA4470988 | IMPDH1 | c.801G>T (p.Leu267=) n.784G>T c.909G>T (p.Leu303=) c.541G>T c.879G>T (p.Leu293=) c.810G>T (p.Leu270=) n.498G>T c.674G>T c.651G>T (p.Leu217=) c.639G>T (p.Leu213=) c.784G>T (n.784G>T) c.579G>T (p.Leu193=) c.702G>T (p.Leu234=) c.654G>T (p.Leu218=) c.678G>T (p.Leu226=) c.291G>T (p.Leu97=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398579C= | CA1742328447 | IMPDH1 | c.801G= (p.Leu267=) n.784G= c.909G= (p.Leu303=) c.541G= c.879G= (p.Leu293=) c.810G= (p.Leu270=) n.498G= c.674G= c.651G= (p.Leu217=) c.639G= (p.Leu213=) c.784G= (n.784G=) c.579G= (p.Leu193=) c.702G= (p.Leu234=) c.654G= (p.Leu218=) c.678G= (p.Leu226=) c.291G= (p.Leu97=) | |
7 | g.128398579C>G | CA457528392 | IMPDH1 | c.801G>C (p.Leu267=) n.784G>C c.909G>C (p.Leu303=) c.541G>C c.879G>C (p.Leu293=) c.810G>C (p.Leu270=) n.498G>C c.674G>C c.651G>C (p.Leu217=) c.639G>C (p.Leu213=) c.784G>C (n.784G>C) c.579G>C (p.Leu193=) c.702G>C (p.Leu234=) c.654G>C (p.Leu218=) c.678G>C (p.Leu226=) c.291G>C (p.Leu97=) | |
7 | g.128398579C>T | CA457528393 | IMPDH1 | c.801G>A (p.Leu267=) n.784G>A c.909G>A (p.Leu303=) c.541G>A c.879G>A (p.Leu293=) c.810G>A (p.Leu270=) n.498G>A c.674G>A c.651G>A (p.Leu217=) c.639G>A (p.Leu213=) c.784G>A (n.784G>A) c.579G>A (p.Leu193=) c.702G>A (p.Leu234=) c.654G>A (p.Leu218=) c.678G>A (p.Leu226=) c.291G>A (p.Leu97=) | |
7 | g.128398580A>C | CA369169613 | IMPDH1 | c.800T>G (p.Leu267Arg) n.783T>G c.908T>G (p.Leu303Arg) c.540T>G c.878T>G (p.Leu293Arg) c.809T>G (p.Leu270Arg) n.497T>G c.673T>G c.650T>G (p.Leu217Arg) c.638T>G (p.Leu213Arg) c.783T>G (n.783T>G) c.578T>G (p.Leu193Arg) c.701T>G (p.Leu234Arg) c.653T>G (p.Leu218Arg) c.677T>G (p.Leu226Arg) c.290T>G (p.Leu97Arg) | |
7 | g.128398580A>G | CA369169611 | IMPDH1 | c.800T>C (p.Leu267Pro) n.783T>C c.908T>C (p.Leu303Pro) c.540T>C c.878T>C (p.Leu293Pro) c.809T>C (p.Leu270Pro) n.497T>C c.673T>C c.650T>C (p.Leu217Pro) c.638T>C (p.Leu213Pro) c.783T>C (n.783T>C) c.578T>C (p.Leu193Pro) c.701T>C (p.Leu234Pro) c.653T>C (p.Leu218Pro) c.677T>C (p.Leu226Pro) c.290T>C (p.Leu97Pro) | gnomAD v4 |
7 | g.128398580A>T | CA369169612 | IMPDH1 | c.800T>A (p.Leu267Gln) n.783T>A c.908T>A (p.Leu303Gln) c.540T>A c.878T>A (p.Leu293Gln) c.809T>A (p.Leu270Gln) n.497T>A c.673T>A c.650T>A (p.Leu217Gln) c.638T>A (p.Leu213Gln) c.783T>A (n.783T>A) c.578T>A (p.Leu193Gln) c.701T>A (p.Leu234Gln) c.653T>A (p.Leu218Gln) c.677T>A (p.Leu226Gln) c.290T>A (p.Leu97Gln) | |
7 | g.128398581G>A | CA457528394 | IMPDH1 | c.799C>T (p.Leu267=) n.782C>T c.907C>T (p.Leu303=) c.539C>T c.877C>T (p.Leu293=) c.808C>T (p.Leu270=) n.496C>T c.672C>T c.649C>T (p.Leu217=) c.637C>T (p.Leu213=) c.782C>T (n.782C>T) c.577C>T (p.Leu193=) c.700C>T (p.Leu234=) c.652C>T (p.Leu218=) c.676C>T (p.Leu226=) c.289C>T (p.Leu97=) | gnomAD v4 |
7 | g.128398581G>C | CA369169614 | IMPDH1 | c.799C>G (p.Leu267Val) n.782C>G c.907C>G (p.Leu303Val) c.539C>G c.877C>G (p.Leu293Val) c.808C>G (p.Leu270Val) n.496C>G c.672C>G c.649C>G (p.Leu217Val) c.637C>G (p.Leu213Val) c.782C>G (n.782C>G) c.577C>G (p.Leu193Val) c.700C>G (p.Leu234Val) c.652C>G (p.Leu218Val) c.676C>G (p.Leu226Val) c.289C>G (p.Leu97Val) | COSMIC COSMIC |
7 | g.128398581G>T | CA369169616 | IMPDH1 | c.799C>A (p.Leu267Met) n.782C>A c.907C>A (p.Leu303Met) c.539C>A c.877C>A (p.Leu293Met) c.808C>A (p.Leu270Met) n.496C>A c.672C>A c.649C>A (p.Leu217Met) c.637C>A (p.Leu213Met) c.782C>A (n.782C>A) c.577C>A (p.Leu193Met) c.700C>A (p.Leu234Met) c.652C>A (p.Leu218Met) c.676C>A (p.Leu226Met) c.289C>A (p.Leu97Met) | |
7 | g.128398582C>A | CA369169619 | IMPDH1 | c.798G>T (p.Glu266Asp) n.781G>T c.906G>T (p.Glu302Asp) c.538G>T c.876G>T (p.Glu292Asp) c.807G>T (p.Glu269Asp) n.495G>T c.671G>T c.648G>T (p.Glu216Asp) c.636G>T (p.Glu212Asp) c.781G>T (n.781G>T) c.576G>T (p.Glu192Asp) c.699G>T (p.Glu233Asp) c.651G>T (p.Glu217Asp) c.675G>T (p.Glu225Asp) c.288G>T (p.Glu96Asp) | gnomAD v4 |
7 | g.128398582C>G | CA369169620 | IMPDH1 | c.798G>C (p.Glu266Asp) n.781G>C c.906G>C (p.Glu302Asp) c.538G>C c.876G>C (p.Glu292Asp) c.807G>C (p.Glu269Asp) n.495G>C c.671G>C c.648G>C (p.Glu216Asp) c.636G>C (p.Glu212Asp) c.781G>C (n.781G>C) c.576G>C (p.Glu192Asp) c.699G>C (p.Glu233Asp) c.651G>C (p.Glu217Asp) c.675G>C (p.Glu225Asp) c.288G>C (p.Glu96Asp) | |
7 | g.128398582C>T | CA457528395 | IMPDH1 | c.798G>A (p.Glu266=) n.781G>A c.906G>A (p.Glu302=) c.538G>A c.876G>A (p.Glu292=) c.807G>A (p.Glu269=) n.495G>A c.671G>A c.648G>A (p.Glu216=) c.636G>A (p.Glu212=) c.781G>A (n.781G>A) c.576G>A (p.Glu192=) c.699G>A (p.Glu233=) c.651G>A (p.Glu217=) c.675G>A (p.Glu225=) c.288G>A (p.Glu96=) | |
7 | g.128398583T>A | CA369169642 | IMPDH1 | c.797A>T (p.Glu266Val) n.780A>T c.905A>T (p.Glu302Val) c.537A>T c.875A>T (p.Glu292Val) c.806A>T (p.Glu269Val) n.494A>T c.670A>T c.647A>T (p.Glu216Val) c.635A>T (p.Glu212Val) c.780A>T (n.780A>T) c.575A>T (p.Glu192Val) c.698A>T (p.Glu233Val) c.650A>T (p.Glu217Val) c.674A>T (p.Glu225Val) c.287A>T (p.Glu96Val) | |
7 | g.128398583T>C | CA369169632 | IMPDH1 | c.797A>G (p.Glu266Gly) n.780A>G c.905A>G (p.Glu302Gly) c.537A>G c.875A>G (p.Glu292Gly) c.806A>G (p.Glu269Gly) n.494A>G c.670A>G c.647A>G (p.Glu216Gly) c.635A>G (p.Glu212Gly) c.780A>G (n.780A>G) c.575A>G (p.Glu192Gly) c.698A>G (p.Glu233Gly) c.650A>G (p.Glu217Gly) c.674A>G (p.Glu225Gly) c.287A>G (p.Glu96Gly) | |
7 | g.128398583T>G | CA369169640 | IMPDH1 | c.797A>C (p.Glu266Ala) n.780A>C c.905A>C (p.Glu302Ala) c.537A>C c.875A>C (p.Glu292Ala) c.806A>C (p.Glu269Ala) n.494A>C c.670A>C c.647A>C (p.Glu216Ala) c.635A>C (p.Glu212Ala) c.780A>C (n.780A>C) c.575A>C (p.Glu192Ala) c.698A>C (p.Glu233Ala) c.650A>C (p.Glu217Ala) c.674A>C (p.Glu225Ala) c.287A>C (p.Glu96Ala) | |
7 | g.128398584C>A | CA369169647 | IMPDH1 | c.796G>T (p.Glu266Ter) n.779G>T c.904G>T (p.Glu302Ter) c.536G>T c.874G>T (p.Glu292Ter) c.805G>T (p.Glu269Ter) n.493G>T c.669G>T c.646G>T (p.Glu216Ter) c.634G>T (p.Glu212Ter) c.779G>T (n.779G>T) c.574G>T (p.Glu192Ter) c.697G>T (p.Glu233Ter) c.649G>T (p.Glu217Ter) c.673G>T (p.Glu225Ter) c.286G>T (p.Glu96Ter) | |
7 | g.128398584C>G | CA369169654 | IMPDH1 | c.796G>C (p.Glu266Gln) n.779G>C c.904G>C (p.Glu302Gln) c.536G>C c.874G>C (p.Glu292Gln) c.805G>C (p.Glu269Gln) n.493G>C c.669G>C c.646G>C (p.Glu216Gln) c.634G>C (p.Glu212Gln) c.779G>C (n.779G>C) c.574G>C (p.Glu192Gln) c.697G>C (p.Glu233Gln) c.649G>C (p.Glu217Gln) c.673G>C (p.Glu225Gln) c.286G>C (p.Glu96Gln) | |
7 | g.128398584C>T | CA369169656 | IMPDH1 | c.796G>A (p.Glu266Lys) n.779G>A c.904G>A (p.Glu302Lys) c.536G>A c.874G>A (p.Glu292Lys) c.805G>A (p.Glu269Lys) n.493G>A c.669G>A c.646G>A (p.Glu216Lys) c.634G>A (p.Glu212Lys) c.779G>A (n.779G>A) c.574G>A (p.Glu192Lys) c.697G>A (p.Glu233Lys) c.649G>A (p.Glu217Lys) c.673G>A (p.Glu225Lys) c.286G>A (p.Glu96Lys) | |
7 | g.128398585A= | CA1742328455 | IMPDH1 | c.795T= (p.Asp265=) n.778T= c.903T= (p.Asp301=) c.535T= c.873T= (p.Asp291=) c.804T= (p.Asp268=) n.492T= c.668T= c.645T= (p.Asp215=) c.633T= (p.Asp211=) c.778T= (n.778T=) c.573T= (p.Asp191=) c.696T= (p.Asp232=) c.648T= (p.Asp216=) c.672T= (p.Asp224=) c.285T= (p.Asp95=) | |
7 | g.128398585A>C | CA369169661 | IMPDH1 | c.795T>G (p.Asp265Glu) n.778T>G c.903T>G (p.Asp301Glu) c.535T>G c.873T>G (p.Asp291Glu) c.804T>G (p.Asp268Glu) n.492T>G c.668T>G c.645T>G (p.Asp215Glu) c.633T>G (p.Asp211Glu) c.778T>G (n.778T>G) c.573T>G (p.Asp191Glu) c.696T>G (p.Asp232Glu) c.648T>G (p.Asp216Glu) c.672T>G (p.Asp224Glu) c.285T>G (p.Asp95Glu) | gnomAD v4 |
7 | g.128398585A>G | CA457528396 | IMPDH1 | c.795T>C (p.Asp265=) n.778T>C c.903T>C (p.Asp301=) c.535T>C c.873T>C (p.Asp291=) c.804T>C (p.Asp268=) n.492T>C c.668T>C c.645T>C (p.Asp215=) c.633T>C (p.Asp211=) c.778T>C (n.778T>C) c.573T>C (p.Asp191=) c.696T>C (p.Asp232=) c.648T>C (p.Asp216=) c.672T>C (p.Asp224=) c.285T>C (p.Asp95=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.128398585A>T | CA369169669 | IMPDH1 | c.795T>A (p.Asp265Glu) n.778T>A c.903T>A (p.Asp301Glu) c.535T>A c.873T>A (p.Asp291Glu) c.804T>A (p.Asp268Glu) n.492T>A c.668T>A c.645T>A (p.Asp215Glu) c.633T>A (p.Asp211Glu) c.778T>A (n.778T>A) c.573T>A (p.Asp191Glu) c.696T>A (p.Asp232Glu) c.648T>A (p.Asp216Glu) c.672T>A (p.Asp224Glu) c.285T>A (p.Asp95Glu) | |
7 | g.128398586T>A | CA369169679 | IMPDH1 | c.794A>T (p.Asp265Val) n.777A>T c.902A>T (p.Asp301Val) c.534A>T c.872A>T (p.Asp291Val) c.803A>T (p.Asp268Val) n.491A>T c.667A>T c.644A>T (p.Asp215Val) c.632A>T (p.Asp211Val) c.777A>T (n.777A>T) c.572A>T (p.Asp191Val) c.695A>T (p.Asp232Val) c.647A>T (p.Asp216Val) c.671A>T (p.Asp224Val) c.284A>T (p.Asp95Val) | |
7 | g.128398586T>C | CA369169685 | IMPDH1 | c.794A>G (p.Asp265Gly) n.777A>G c.902A>G (p.Asp301Gly) c.534A>G c.872A>G (p.Asp291Gly) c.803A>G (p.Asp268Gly) n.491A>G c.667A>G c.644A>G (p.Asp215Gly) c.632A>G (p.Asp211Gly) c.777A>G (n.777A>G) c.572A>G (p.Asp191Gly) c.695A>G (p.Asp232Gly) c.647A>G (p.Asp216Gly) c.671A>G (p.Asp224Gly) c.284A>G (p.Asp95Gly) | ClinVar dbSNP |
7 | g.128398586T>G | CA369169680 | IMPDH1 | c.794A>C (p.Asp265Ala) n.777A>C c.902A>C (p.Asp301Ala) c.534A>C c.872A>C (p.Asp291Ala) c.803A>C (p.Asp268Ala) n.491A>C c.667A>C c.644A>C (p.Asp215Ala) c.632A>C (p.Asp211Ala) c.777A>C (n.777A>C) c.572A>C (p.Asp191Ala) c.695A>C (p.Asp232Ala) c.647A>C (p.Asp216Ala) c.671A>C (p.Asp224Ala) c.284A>C (p.Asp95Ala) | |
7 | g.128398587C>A | CA369169694 | IMPDH1 | c.793G>T (p.Asp265Tyr) n.776G>T c.901G>T (p.Asp301Tyr) c.533G>T c.871G>T (p.Asp291Tyr) c.802G>T (p.Asp268Tyr) n.490G>T c.666G>T c.643G>T (p.Asp215Tyr) c.631G>T (p.Asp211Tyr) c.776G>T (n.776G>T) c.571G>T (p.Asp191Tyr) c.694G>T (p.Asp232Tyr) c.646G>T (p.Asp216Tyr) c.670G>T (p.Asp224Tyr) c.283G>T (p.Asp95Tyr) | |
7 | g.128398587C= | CA1742328469 | IMPDH1 | c.793G= (p.Asp265=) n.776G= c.901G= (p.Asp301=) c.533G= c.871G= (p.Asp291=) c.802G= (p.Asp268=) n.490G= c.666G= c.643G= (p.Asp215=) c.631G= (p.Asp211=) c.776G= (n.776G=) c.571G= (p.Asp191=) c.694G= (p.Asp232=) c.646G= (p.Asp216=) c.670G= (p.Asp224=) c.283G= (p.Asp95=) | |
7 | g.128398587C>G | CA369169697 | IMPDH1 | c.793G>C (p.Asp265His) n.776G>C c.901G>C (p.Asp301His) c.533G>C c.871G>C (p.Asp291His) c.802G>C (p.Asp268His) n.490G>C c.666G>C c.643G>C (p.Asp215His) c.631G>C (p.Asp211His) c.776G>C (n.776G>C) c.571G>C (p.Asp191His) c.694G>C (p.Asp232His) c.646G>C (p.Asp216His) c.670G>C (p.Asp224His) c.283G>C (p.Asp95His) | |
7 | g.128398587C>T | CA4470989 | IMPDH1 | c.793G>A (p.Asp265Asn) n.776G>A c.901G>A (p.Asp301Asn) c.533G>A c.871G>A (p.Asp291Asn) c.802G>A (p.Asp268Asn) n.490G>A c.666G>A c.643G>A (p.Asp215Asn) c.631G>A (p.Asp211Asn) c.776G>A (n.776G>A) c.571G>A (p.Asp191Asn) c.694G>A (p.Asp232Asn) c.646G>A (p.Asp216Asn) c.670G>A (p.Asp224Asn) c.283G>A (p.Asp95Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398588G>A | CA4470990 | IMPDH1 | c.792C>T (p.Cys264=) n.775C>T c.900C>T (p.Cys300=) c.532C>T c.870C>T (p.Cys290=) c.801C>T (p.Cys267=) n.489C>T c.665C>T c.642C>T (p.Cys214=) c.630C>T (p.Cys210=) c.775C>T (n.775C>T) c.570C>T (p.Cys190=) c.693C>T (p.Cys231=) c.645C>T (p.Cys215=) c.669C>T (p.Cys223=) c.282C>T (p.Cys94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.128398588G>C | CA369169719 | IMPDH1 | c.792C>G (p.Cys264Trp) n.775C>G c.900C>G (p.Cys300Trp) c.532C>G c.870C>G (p.Cys290Trp) c.801C>G (p.Cys267Trp) n.489C>G c.665C>G c.642C>G (p.Cys214Trp) c.630C>G (p.Cys210Trp) c.775C>G (n.775C>G) c.570C>G (p.Cys190Trp) c.693C>G (p.Cys231Trp) c.645C>G (p.Cys215Trp) c.669C>G (p.Cys223Trp) c.282C>G (p.Cys94Trp) | |
7 | g.128398588G= | CA1742328477 | IMPDH1 | c.792C= (p.Cys264=) n.775C= c.900C= (p.Cys300=) c.532C= c.870C= (p.Cys290=) c.801C= (p.Cys267=) n.489C= c.665C= c.642C= (p.Cys214=) c.630C= (p.Cys210=) c.775C= (n.775C=) c.570C= (p.Cys190=) c.693C= (p.Cys231=) c.645C= (p.Cys215=) c.669C= (p.Cys223=) c.282C= (p.Cys94=) | |
7 | g.128398588G>T | CA369169720 | IMPDH1 | c.792C>A (p.Cys264Ter) n.775C>A c.900C>A (p.Cys300Ter) c.532C>A c.870C>A (p.Cys290Ter) c.801C>A (p.Cys267Ter) n.489C>A c.665C>A c.642C>A (p.Cys214Ter) c.630C>A (p.Cys210Ter) c.775C>A (n.775C>A) c.570C>A (p.Cys190Ter) c.693C>A (p.Cys231Ter) c.645C>A (p.Cys215Ter) c.669C>A (p.Cys223Ter) c.282C>A (p.Cys94Ter) | |
7 | g.128398589C>A | CA369169721 | IMPDH1 | c.791G>T (p.Cys264Phe) n.774G>T c.899G>T (p.Cys300Phe) c.531G>T c.869G>T (p.Cys290Phe) c.800G>T (p.Cys267Phe) n.488G>T c.664G>T c.641G>T (p.Cys214Phe) c.629G>T (p.Cys210Phe) c.774G>T (n.774G>T) c.569G>T (p.Cys190Phe) c.692G>T (p.Cys231Phe) c.644G>T (p.Cys215Phe) c.668G>T (p.Cys223Phe) c.281G>T (p.Cys94Phe) | |
7 | g.128398589C>G | CA369169724 | IMPDH1 | c.791G>C (p.Cys264Ser) n.774G>C c.899G>C (p.Cys300Ser) c.531G>C c.869G>C (p.Cys290Ser) c.800G>C (p.Cys267Ser) n.488G>C c.664G>C c.641G>C (p.Cys214Ser) c.629G>C (p.Cys210Ser) c.774G>C (n.774G>C) c.569G>C (p.Cys190Ser) c.692G>C (p.Cys231Ser) c.644G>C (p.Cys215Ser) c.668G>C (p.Cys223Ser) c.281G>C (p.Cys94Ser) | |
7 | g.128398589C>T | CA369169737 | IMPDH1 | c.791G>A (p.Cys264Tyr) n.774G>A c.899G>A (p.Cys300Tyr) c.531G>A c.869G>A (p.Cys290Tyr) c.800G>A (p.Cys267Tyr) n.488G>A c.664G>A c.641G>A (p.Cys214Tyr) c.629G>A (p.Cys210Tyr) c.774G>A (n.774G>A) c.569G>A (p.Cys190Tyr) c.692G>A (p.Cys231Tyr) c.644G>A (p.Cys215Tyr) c.668G>A (p.Cys223Tyr) c.281G>A (p.Cys94Tyr) | COSMIC |
7 | g.128398590A>C | CA369169744 | IMPDH1 | c.790T>G (p.Cys264Gly) n.773T>G c.898T>G (p.Cys300Gly) c.530T>G c.868T>G (p.Cys290Gly) c.799T>G (p.Cys267Gly) n.487T>G c.663T>G c.640T>G (p.Cys214Gly) c.628T>G (p.Cys210Gly) c.773T>G (n.773T>G) c.568T>G (p.Cys190Gly) c.691T>G (p.Cys231Gly) c.643T>G (p.Cys215Gly) c.667T>G (p.Cys223Gly) c.280T>G (p.Cys94Gly) | |
7 | g.128398590A>G | CA369169746 | IMPDH1 | c.790T>C (p.Cys264Arg) n.773T>C c.898T>C (p.Cys300Arg) c.530T>C c.868T>C (p.Cys290Arg) c.799T>C (p.Cys267Arg) n.487T>C c.663T>C c.640T>C (p.Cys214Arg) c.628T>C (p.Cys210Arg) c.773T>C (n.773T>C) c.568T>C (p.Cys190Arg) c.691T>C (p.Cys231Arg) c.643T>C (p.Cys215Arg) c.667T>C (p.Cys223Arg) c.280T>C (p.Cys94Arg) | dbSNP |
7 | g.128398590A>T | CA369169748 | IMPDH1 | c.790T>A (p.Cys264Ser) n.773T>A c.898T>A (p.Cys300Ser) c.530T>A c.868T>A (p.Cys290Ser) c.799T>A (p.Cys267Ser) n.487T>A c.663T>A c.640T>A (p.Cys214Ser) c.628T>A (p.Cys210Ser) c.773T>A (n.773T>A) c.568T>A (p.Cys190Ser) c.691T>A (p.Cys231Ser) c.643T>A (p.Cys215Ser) c.667T>A (p.Cys223Ser) c.280T>A (p.Cys94Ser) | |
7 | g.128398591A>C | CA369169750 | IMPDH1 | c.789T>G (p.Asp263Glu) n.772T>G c.897T>G (p.Asp299Glu) c.529T>G c.867T>G (p.Asp289Glu) c.798T>G (p.Asp266Glu) n.486T>G c.662T>G c.639T>G (p.Asp213Glu) c.627T>G (p.Asp209Glu) c.772T>G (n.772T>G) c.567T>G (p.Asp189Glu) c.690T>G (p.Asp230Glu) c.642T>G (p.Asp214Glu) c.666T>G (p.Asp222Glu) c.279T>G (p.Asp93Glu) | |
7 | g.128398591A>G | CA457528397 | IMPDH1 | c.789T>C (p.Asp263=) n.772T>C c.897T>C (p.Asp299=) c.529T>C c.867T>C (p.Asp289=) c.798T>C (p.Asp266=) n.486T>C c.662T>C c.639T>C (p.Asp213=) c.627T>C (p.Asp209=) c.772T>C (n.772T>C) c.567T>C (p.Asp189=) c.690T>C (p.Asp230=) c.642T>C (p.Asp214=) c.666T>C (p.Asp222=) c.279T>C (p.Asp93=) | |
7 | g.128398591A>T | CA369169754 | IMPDH1 | c.789T>A (p.Asp263Glu) n.772T>A c.897T>A (p.Asp299Glu) c.529T>A c.867T>A (p.Asp289Glu) c.798T>A (p.Asp266Glu) n.486T>A c.662T>A c.639T>A (p.Asp213Glu) c.627T>A (p.Asp209Glu) c.772T>A (n.772T>A) c.567T>A (p.Asp189Glu) c.690T>A (p.Asp230Glu) c.642T>A (p.Asp214Glu) c.666T>A (p.Asp222Glu) c.279T>A (p.Asp93Glu) |