Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.137639083T>A | CA446561086 | KLHL3 | c.1089A>T (p.Thr363=) n.676A>T c.*335-10646A>T (n.*335-10646A>T) c.969A>T (p.Thr323=) c.843A>T (p.Thr281=) n.714A>T c.993A>T (p.Thr331=) | |
5 | g.137639083T>C | CA128103919 | KLHL3 | c.1089A>G (p.Thr363=) n.676A>G c.*335-10646A>G (n.*335-10646A>G) c.969A>G (p.Thr323=) c.843A>G (p.Thr281=) n.714A>G c.993A>G (p.Thr331=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.137639083T>G | CA446561088 | KLHL3 | c.1089A>C (p.Thr363=) n.676A>C c.*335-10646A>C (n.*335-10646A>C) c.969A>C (p.Thr323=) c.843A>C (p.Thr281=) n.714A>C c.993A>C (p.Thr331=) | |
5 | g.137639083T= | CA1585497650 | KLHL3 | c.1089A= (p.Thr363=) n.676A= c.*335-10646A= (n.*335-10646A=) c.969A= (p.Thr323=) c.843A= (p.Thr281=) n.714A= c.993A= (p.Thr331=) | |
5 | g.137639084G>A | CA361048241 | KLHL3 | c.1088C>T (p.Thr363Ile) n.675C>T c.*335-10647C>T (n.*335-10647C>T) c.968C>T (p.Thr323Ile) c.842C>T (p.Thr281Ile) n.713C>T c.992C>T (p.Thr331Ile) | |
5 | g.137639084G>C | CA361048239 | KLHL3 | c.1088C>G (p.Thr363Arg) n.675C>G c.*335-10647C>G (n.*335-10647C>G) c.968C>G (p.Thr323Arg) c.842C>G (p.Thr281Arg) n.713C>G c.992C>G (p.Thr331Arg) | |
5 | g.137639084G>T | CA361048243 | KLHL3 | c.1088C>A (p.Thr363Lys) n.675C>A c.*335-10647C>A (n.*335-10647C>A) c.968C>A (p.Thr323Lys) c.842C>A (p.Thr281Lys) n.713C>A c.992C>A (p.Thr331Lys) | |
5 | g.137639085T>A | CA361048245 | KLHL3 | c.1087A>T (p.Thr363Ser) n.674A>T c.*335-10648A>T (n.*335-10648A>T) c.967A>T (p.Thr323Ser) c.841A>T (p.Thr281Ser) n.712A>T c.991A>T (p.Thr331Ser) | |
5 | g.137639085T>C | CA361048247 | KLHL3 | c.1087A>G (p.Thr363Ala) n.674A>G c.*335-10648A>G (n.*335-10648A>G) c.967A>G (p.Thr323Ala) c.841A>G (p.Thr281Ala) n.712A>G c.991A>G (p.Thr331Ala) | |
5 | g.137639085T>G | CA361048249 | KLHL3 | c.1087A>C (p.Thr363Pro) n.674A>C c.*335-10648A>C (n.*335-10648A>C) c.967A>C (p.Thr323Pro) c.841A>C (p.Thr281Pro) n.712A>C c.991A>C (p.Thr331Pro) | |
5 | g.137639086C>A | CA446561091 | KLHL3 | c.1086G>T (p.Arg362=) n.673G>T c.*335-10649G>T (n.*335-10649G>T) c.966G>T (p.Arg322=) c.840G>T (p.Arg280=) n.711G>T c.990G>T (p.Arg330=) | |
5 | g.137639086C>G | CA446561093 | KLHL3 | c.1086G>C (p.Arg362=) n.673G>C c.*335-10649G>C (n.*335-10649G>C) c.966G>C (p.Arg322=) c.840G>C (p.Arg280=) n.711G>C c.990G>C (p.Arg330=) | |
5 | g.137639086C>T | CA446561094 | KLHL3 | c.1086G>A (p.Arg362=) n.673G>A c.*335-10649G>A (n.*335-10649G>A) c.966G>A (p.Arg322=) c.840G>A (p.Arg280=) n.711G>A c.990G>A (p.Arg330=) | |
5 | g.137639087C>A | CA361048251 | KLHL3 | c.1085G>T (p.Arg362Leu) n.672G>T c.*335-10650G>T (n.*335-10650G>T) c.965G>T (p.Arg322Leu) c.839G>T (p.Arg280Leu) n.710G>T c.989G>T (p.Arg330Leu) | |
5 | g.137639087C= | CA1585497652 | KLHL3 | c.1085G= (p.Arg362=) n.672G= c.*335-10650G= (n.*335-10650G=) c.965G= (p.Arg322=) c.839G= (p.Arg280=) n.710G= c.989G= (p.Arg330=) | |
5 | g.137639087C>G | CA361048253 | KLHL3 | c.1085G>C (p.Arg362Pro) n.672G>C c.*335-10650G>C (n.*335-10650G>C) c.965G>C (p.Arg322Pro) c.839G>C (p.Arg280Pro) n.710G>C c.989G>C (p.Arg330Pro) | |
5 | g.137639087C>T | CA3422295 | KLHL3 | c.1085G>A (p.Arg362Gln) n.672G>A c.*335-10650G>A (n.*335-10650G>A) c.965G>A (p.Arg322Gln) c.839G>A (p.Arg280Gln) n.710G>A c.989G>A (p.Arg330Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.137639088G>A | CA3422296 | KLHL3 | c.1084C>T (p.Arg362Trp) n.671C>T c.*335-10651C>T (n.*335-10651C>T) c.964C>T (p.Arg322Trp) c.838C>T (p.Arg280Trp) n.709C>T c.988C>T (p.Arg330Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639088G>C | CA361048258 | KLHL3 | c.1084C>G (p.Arg362Gly) n.671C>G c.*335-10651C>G (n.*335-10651C>G) c.964C>G (p.Arg322Gly) c.838C>G (p.Arg280Gly) n.709C>G c.988C>G (p.Arg330Gly) | gnomAD v4 |
5 | g.137639088G= | CA1585497656 | KLHL3 | c.1084C= (p.Arg362=) n.671C= c.*335-10651C= (n.*335-10651C=) c.964C= (p.Arg322=) c.838C= (p.Arg280=) n.709C= c.988C= (p.Arg330=) | |
5 | g.137639088G>T | CA446561095 | KLHL3 | c.1084C>A (p.Arg362=) n.671C>A c.*335-10651C>A (n.*335-10651C>A) c.964C>A (p.Arg322=) c.838C>A (p.Arg280=) n.709C>A c.988C>A (p.Arg330=) | gnomAD v4 |
5 | g.137639089C>A | CA446561097 | KLHL3 | c.1083G>T (p.Val361=) n.670G>T c.*335-10652G>T (n.*335-10652G>T) c.963G>T (p.Val321=) c.837G>T (p.Val279=) n.708G>T c.987G>T (p.Val329=) | |
5 | g.137639089C>G | CA446561099 | KLHL3 | c.1083G>C (p.Val361=) n.670G>C c.*335-10652G>C (n.*335-10652G>C) c.963G>C (p.Val321=) c.837G>C (p.Val279=) n.708G>C c.987G>C (p.Val329=) | |
5 | g.137639089C>T | CA446561100 | KLHL3 | c.1083G>A (p.Val361=) n.670G>A c.*335-10652G>A (n.*335-10652G>A) c.963G>A (p.Val321=) c.837G>A (p.Val279=) n.708G>A c.987G>A (p.Val329=) | |
5 | g.137639090A>C | CA361048260 | KLHL3 | c.1082T>G (p.Val361Gly) n.669T>G c.*335-10653T>G (n.*335-10653T>G) c.962T>G (p.Val321Gly) c.836T>G (p.Val279Gly) n.707T>G c.986T>G (p.Val329Gly) | |
5 | g.137639090A>G | CA361048262 | KLHL3 | c.1082T>C (p.Val361Ala) n.669T>C c.*335-10653T>C (n.*335-10653T>C) c.962T>C (p.Val321Ala) c.836T>C (p.Val279Ala) n.707T>C c.986T>C (p.Val329Ala) | |
5 | g.137639090A>T | CA361048263 | KLHL3 | c.1082T>A (p.Val361Glu) n.669T>A c.*335-10653T>A (n.*335-10653T>A) c.962T>A (p.Val321Glu) c.836T>A (p.Val279Glu) n.707T>A c.986T>A (p.Val329Glu) | |
5 | g.137639091C>A | CA361048269 | KLHL3 | c.1081G>T (p.Val361Leu) n.668G>T c.*335-10654G>T (n.*335-10654G>T) c.961G>T (p.Val321Leu) c.835G>T (p.Val279Leu) n.706G>T c.985G>T (p.Val329Leu) | |
5 | g.137639091C>G | CA361048268 | KLHL3 | c.1081G>C (p.Val361Leu) n.668G>C c.*335-10654G>C (n.*335-10654G>C) c.961G>C (p.Val321Leu) c.835G>C (p.Val279Leu) n.706G>C c.985G>C (p.Val329Leu) | |
5 | g.137639091C>T | CA361048266 | KLHL3 | c.1081G>A (p.Val361Met) n.668G>A c.*335-10654G>A (n.*335-10654G>A) c.961G>A (p.Val321Met) c.835G>A (p.Val279Met) n.706G>A c.985G>A (p.Val329Met) | |
5 | g.137639092C>A | CA446561103 | KLHL3 | c.1080G>T (p.Arg360=) n.667G>T c.*335-10655G>T (n.*335-10655G>T) c.960G>T (p.Arg320=) c.834G>T (p.Arg278=) n.705G>T c.984G>T (p.Arg328=) | |
5 | g.137639092C>G | CA446561106 | KLHL3 | c.1080G>C (p.Arg360=) n.667G>C c.*335-10655G>C (n.*335-10655G>C) c.960G>C (p.Arg320=) c.834G>C (p.Arg278=) n.705G>C c.984G>C (p.Arg328=) | |
5 | g.137639092C>T | CA446561105 | KLHL3 | c.1080G>A (p.Arg360=) n.667G>A c.*335-10655G>A (n.*335-10655G>A) c.960G>A (p.Arg320=) c.834G>A (p.Arg278=) n.705G>A c.984G>A (p.Arg328=) | |
5 | g.137639093C>A | CA361048272 | KLHL3 | c.1079G>T (p.Arg360Leu) n.666G>T c.*335-10656G>T (n.*335-10656G>T) c.959G>T (p.Arg320Leu) c.833G>T (p.Arg278Leu) n.704G>T c.983G>T (p.Arg328Leu) | |
5 | g.137639093C= | CA1585497663 | KLHL3 | c.1079G= (p.Arg360=) n.666G= c.*335-10656G= (n.*335-10656G=) c.959G= (p.Arg320=) c.833G= (p.Arg278=) n.704G= c.983G= (p.Arg328=) | |
5 | g.137639093C>G | CA361048273 | KLHL3 | c.1079G>C (p.Arg360Pro) n.666G>C c.*335-10656G>C (n.*335-10656G>C) c.959G>C (p.Arg320Pro) c.833G>C (p.Arg278Pro) n.704G>C c.983G>C (p.Arg328Pro) | |
5 | g.137639093C>T | CA361048275 | KLHL3 | c.1079G>A (p.Arg360Gln) n.666G>A c.*335-10656G>A (n.*335-10656G>A) c.959G>A (p.Arg320Gln) c.833G>A (p.Arg278Gln) n.704G>A c.983G>A (p.Arg328Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.137639094G>A | CA128103933 | KLHL3 | c.1078C>T (p.Arg360Trp) n.665C>T c.*335-10657C>T (n.*335-10657C>T) c.958C>T (p.Arg320Trp) c.832C>T (p.Arg278Trp) n.703C>T c.982C>T (p.Arg328Trp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.137639094G>C | CA361048278 | KLHL3 | c.1078C>G (p.Arg360Gly) n.665C>G c.*335-10657C>G (n.*335-10657C>G) c.958C>G (p.Arg320Gly) c.832C>G (p.Arg278Gly) n.703C>G c.982C>G (p.Arg328Gly) | |
5 | g.137639094G= | CA1585497670 | KLHL3 | c.1078C= (p.Arg360=) n.665C= c.*335-10657C= (n.*335-10657C=) c.958C= (p.Arg320=) c.832C= (p.Arg278=) n.703C= c.982C= (p.Arg328=) | |
5 | g.137639094G>T | CA3422297 | KLHL3 | c.1078C>A (p.Arg360=) n.665C>A c.*335-10657C>A (n.*335-10657C>A) c.958C>A (p.Arg320=) c.832C>A (p.Arg278=) n.703C>A c.982C>A (p.Arg328=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639095C>A | CA446561107 | KLHL3 | c.1077G>T (p.Leu359=) n.664G>T c.*335-10658G>T (n.*335-10658G>T) c.957G>T (p.Leu319=) c.831G>T (p.Leu277=) n.702G>T c.981G>T (p.Leu327=) | |
5 | g.137639095C>G | CA446561108 | KLHL3 | c.1077G>C (p.Leu359=) n.664G>C c.*335-10658G>C (n.*335-10658G>C) c.957G>C (p.Leu319=) c.831G>C (p.Leu277=) n.702G>C c.981G>C (p.Leu327=) | |
5 | g.137639095C>T | CA446561109 | KLHL3 | c.1077G>A (p.Leu359=) n.664G>A c.*335-10658G>A (n.*335-10658G>A) c.957G>A (p.Leu319=) c.831G>A (p.Leu277=) n.702G>A c.981G>A (p.Leu327=) | |
5 | g.137639096A>C | CA361048281 | KLHL3 | c.1076T>G (p.Leu359Arg) n.663T>G c.*335-10659T>G (n.*335-10659T>G) c.956T>G (p.Leu319Arg) c.830T>G (p.Leu277Arg) n.701T>G c.980T>G (p.Leu327Arg) | |
5 | g.137639096A>G | CA361048283 | KLHL3 | c.1076T>C (p.Leu359Pro) n.663T>C c.*335-10659T>C (n.*335-10659T>C) c.956T>C (p.Leu319Pro) c.830T>C (p.Leu277Pro) n.701T>C c.980T>C (p.Leu327Pro) | gnomAD v4 |
5 | g.137639096A>T | CA361048285 | KLHL3 | c.1076T>A (p.Leu359Gln) n.663T>A c.*335-10659T>A (n.*335-10659T>A) c.956T>A (p.Leu319Gln) c.830T>A (p.Leu277Gln) n.701T>A c.980T>A (p.Leu327Gln) | |
5 | g.137639097G>A | CA3422298 | KLHL3 | c.1075C>T (p.Leu359=) n.662C>T c.*335-10660C>T (n.*335-10660C>T) c.955C>T (p.Leu319=) c.829C>T (p.Leu277=) n.700C>T c.979C>T (p.Leu327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639097G>C | CA361048287 | KLHL3 | c.1075C>G (p.Leu359Val) n.662C>G c.*335-10660C>G (n.*335-10660C>G) c.955C>G (p.Leu319Val) c.829C>G (p.Leu277Val) n.700C>G c.979C>G (p.Leu327Val) | |
5 | g.137639097G= | CA1585497679 | KLHL3 | c.1075C= (p.Leu359=) n.662C= c.*335-10660C= (n.*335-10660C=) c.955C= (p.Leu319=) c.829C= (p.Leu277=) n.700C= c.979C= (p.Leu327=) | |
5 | g.137639097G>T | CA3422299 | KLHL3 | c.1075C>A (p.Leu359Met) n.662C>A c.*335-10660C>A (n.*335-10660C>A) c.955C>A (p.Leu319Met) c.829C>A (p.Leu277Met) n.700C>A c.979C>A (p.Leu327Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.137639098T>A | CA446561113 | KLHL3 | c.1074A>T (p.Ser358=) n.661A>T c.*335-10661A>T (n.*335-10661A>T) c.954A>T (p.Ser318=) c.828A>T (p.Ser276=) n.699A>T c.978A>T (p.Ser326=) | |
5 | g.137639098T>C | CA446561115 | KLHL3 | c.1074A>G (p.Ser358=) n.661A>G c.*335-10661A>G (n.*335-10661A>G) c.954A>G (p.Ser318=) c.828A>G (p.Ser276=) n.699A>G c.978A>G (p.Ser326=) | |
5 | g.137639098T>G | CA446561114 | KLHL3 | c.1074A>C (p.Ser358=) n.661A>C c.*335-10661A>C (n.*335-10661A>C) c.954A>C (p.Ser318=) c.828A>C (p.Ser276=) n.699A>C c.978A>C (p.Ser326=) | |
5 | g.137639099G>A | CA361048291 | KLHL3 | c.1073C>T (p.Ser358Leu) n.660C>T c.*335-10662C>T (n.*335-10662C>T) c.953C>T (p.Ser318Leu) c.827C>T (p.Ser276Leu) n.698C>T c.977C>T (p.Ser326Leu) | |
5 | g.137639099G>C | CA361048293 | KLHL3 | c.1073C>G (p.Ser358Ter) n.660C>G c.*335-10662C>G (n.*335-10662C>G) c.953C>G (p.Ser318Ter) c.827C>G (p.Ser276Ter) n.698C>G c.977C>G (p.Ser326Ter) | |
5 | g.137639099G>T | CA361048290 | KLHL3 | c.1073C>A (p.Ser358Ter) n.660C>A c.*335-10662C>A (n.*335-10662C>A) c.953C>A (p.Ser318Ter) c.827C>A (p.Ser276Ter) n.698C>A c.977C>A (p.Ser326Ter) | |
5 | g.137639100A>C | CA361048294 | KLHL3 | c.1072T>G (p.Ser358Ala) n.659T>G c.*335-10663T>G (n.*335-10663T>G) c.952T>G (p.Ser318Ala) c.826T>G (p.Ser276Ala) n.697T>G c.976T>G (p.Ser326Ala) | |
5 | g.137639100A>G | CA361048296 | KLHL3 | c.1072T>C (p.Ser358Pro) n.659T>C c.*335-10663T>C (n.*335-10663T>C) c.952T>C (p.Ser318Pro) c.826T>C (p.Ser276Pro) n.697T>C c.976T>C (p.Ser326Pro) | |
5 | g.137639100A>T | CA361048298 | KLHL3 | c.1072T>A (p.Ser358Thr) n.659T>A c.*335-10663T>A (n.*335-10663T>A) c.952T>A (p.Ser318Thr) c.826T>A (p.Ser276Thr) n.697T>A c.976T>A (p.Ser326Thr) | |
5 | g.137639101G>A | CA446561119 | KLHL3 | c.1071C>T (p.Gly357=) n.658C>T c.*335-10664C>T (n.*335-10664C>T) c.951C>T (p.Gly317=) c.825C>T (p.Gly275=) n.696C>T c.975C>T (p.Gly325=) | gnomAD v4 |
5 | g.137639101G>C | CA446561120 | KLHL3 | c.1071C>G (p.Gly357=) n.658C>G c.*335-10664C>G (n.*335-10664C>G) c.951C>G (p.Gly317=) c.825C>G (p.Gly275=) n.696C>G c.975C>G (p.Gly325=) | |
5 | g.137639101G>T | CA446561121 | KLHL3 | c.1071C>A (p.Gly357=) n.658C>A c.*335-10664C>A (n.*335-10664C>A) c.951C>A (p.Gly317=) c.825C>A (p.Gly275=) n.696C>A c.975C>A (p.Gly325=) | |
5 | g.137639102C>A | CA361048301 | KLHL3 | c.1070G>T (p.Gly357Val) n.657G>T c.*335-10665G>T (n.*335-10665G>T) c.950G>T (p.Gly317Val) c.824G>T (p.Gly275Val) n.695G>T c.974G>T (p.Gly325Val) | gnomAD v4 |
5 | g.137639102C>G | CA361048305 | KLHL3 | c.1070G>C (p.Gly357Ala) n.657G>C c.*335-10665G>C (n.*335-10665G>C) c.950G>C (p.Gly317Ala) c.824G>C (p.Gly275Ala) n.695G>C c.974G>C (p.Gly325Ala) | |
5 | g.137639102C>T | CA361048307 | KLHL3 | c.1070G>A (p.Gly357Asp) n.657G>A c.*335-10665G>A (n.*335-10665G>A) c.950G>A (p.Gly317Asp) c.824G>A (p.Gly275Asp) n.695G>A c.974G>A (p.Gly325Asp) | |
5 | g.137639103C>A | CA361048312 | KLHL3 | c.1069G>T (p.Gly357Cys) n.656G>T c.*335-10666G>T (n.*335-10666G>T) c.949G>T (p.Gly317Cys) c.823G>T (p.Gly275Cys) n.694G>T c.973G>T (p.Gly325Cys) | |
5 | g.137639103C>G | CA361048310 | KLHL3 | c.1069G>C (p.Gly357Arg) n.656G>C c.*335-10666G>C (n.*335-10666G>C) c.949G>C (p.Gly317Arg) c.823G>C (p.Gly275Arg) n.694G>C c.973G>C (p.Gly325Arg) | |
5 | g.137639103C>T | CA361048311 | KLHL3 | c.1069G>A (p.Gly357Ser) n.656G>A c.*335-10666G>A (n.*335-10666G>A) c.949G>A (p.Gly317Ser) c.823G>A (p.Gly275Ser) n.694G>A c.973G>A (p.Gly325Ser) | |
5 | g.137639104A>C | CA361048315 | KLHL3 | c.1068T>G (p.Asn356Lys) n.655T>G c.*335-10667T>G (n.*335-10667T>G) c.948T>G (p.Asn316Lys) c.822T>G (p.Asn274Lys) n.693T>G c.972T>G (p.Asn324Lys) | |
5 | g.137639104A>G | CA446561122 | KLHL3 | c.1068T>C (p.Asn356=) n.655T>C c.*335-10667T>C (n.*335-10667T>C) c.948T>C (p.Asn316=) c.822T>C (p.Asn274=) n.693T>C c.972T>C (p.Asn324=) | |
5 | g.137639104A>T | CA361048316 | KLHL3 | c.1068T>A (p.Asn356Lys) n.655T>A c.*335-10667T>A (n.*335-10667T>A) c.948T>A (p.Asn316Lys) c.822T>A (p.Asn274Lys) n.693T>A c.972T>A (p.Asn324Lys) | |
5 | g.137639105T>A | CA361048318 | KLHL3 | c.1067A>T (p.Asn356Ile) n.654A>T c.*335-10668A>T (n.*335-10668A>T) c.947A>T (p.Asn316Ile) c.821A>T (p.Asn274Ile) n.692A>T c.971A>T (p.Asn324Ile) | |
5 | g.137639105T>C | CA361048321 | KLHL3 | c.1067A>G (p.Asn356Ser) n.654A>G c.*335-10668A>G (n.*335-10668A>G) c.947A>G (p.Asn316Ser) c.821A>G (p.Asn274Ser) n.692A>G c.971A>G (p.Asn324Ser) | |
5 | g.137639105T>G | CA361048322 | KLHL3 | c.1067A>C (p.Asn356Thr) n.654A>C c.*335-10668A>C (n.*335-10668A>C) c.947A>C (p.Asn316Thr) c.821A>C (p.Asn274Thr) n.692A>C c.971A>C (p.Asn324Thr) | |
5 | g.137639106T>A | CA361048324 | KLHL3 | c.1066A>T (p.Asn356Tyr) n.653A>T c.*335-10669A>T (n.*335-10669A>T) c.946A>T (p.Asn316Tyr) c.820A>T (p.Asn274Tyr) n.691A>T c.970A>T (p.Asn324Tyr) | |
5 | g.137639106T>C | CA361048326 | KLHL3 | c.1066A>G (p.Asn356Asp) n.653A>G c.*335-10669A>G (n.*335-10669A>G) c.946A>G (p.Asn316Asp) c.820A>G (p.Asn274Asp) n.691A>G c.970A>G (p.Asn324Asp) | |
5 | g.137639106T>G | CA361048325 | KLHL3 | c.1066A>C (p.Asn356His) n.653A>C c.*335-10669A>C (n.*335-10669A>C) c.946A>C (p.Asn316His) c.820A>C (p.Asn274His) n.691A>C c.970A>C (p.Asn324His) | |
5 | g.137639107A>C | CA361048328 | KLHL3 | c.1065T>G (p.Phe355Leu) n.652T>G c.*335-10670T>G (n.*335-10670T>G) c.945T>G (p.Phe315Leu) c.819T>G (p.Phe273Leu) n.690T>G c.969T>G (p.Phe323Leu) | |
5 | g.137639107A>G | CA446561125 | KLHL3 | c.1065T>C (p.Phe355=) n.652T>C c.*335-10670T>C (n.*335-10670T>C) c.945T>C (p.Phe315=) c.819T>C (p.Phe273=) n.690T>C c.969T>C (p.Phe323=) | |
5 | g.137639107A>T | CA361048329 | KLHL3 | c.1065T>A (p.Phe355Leu) n.652T>A c.*335-10670T>A (n.*335-10670T>A) c.945T>A (p.Phe315Leu) c.819T>A (p.Phe273Leu) n.690T>A c.969T>A (p.Phe323Leu) | |
5 | g.137639108A>C | CA361048330 | KLHL3 | c.1064T>G (p.Phe355Cys) n.651T>G c.*335-10671T>G (n.*335-10671T>G) c.944T>G (p.Phe315Cys) c.818T>G (p.Phe273Cys) n.689T>G c.968T>G (p.Phe323Cys) | ClinVar |
5 | g.137639108A>G | CA361048332 | KLHL3 | c.1064T>C (p.Phe355Ser) n.651T>C c.*335-10671T>C (n.*335-10671T>C) c.944T>C (p.Phe315Ser) c.818T>C (p.Phe273Ser) n.689T>C c.968T>C (p.Phe323Ser) | |
5 | g.137639108A>T | CA361048334 | KLHL3 | c.1064T>A (p.Phe355Tyr) n.651T>A c.*335-10671T>A (n.*335-10671T>A) c.944T>A (p.Phe315Tyr) c.818T>A (p.Phe273Tyr) n.689T>A c.968T>A (p.Phe323Tyr) | |
5 | g.137639109A= | CA1585497681 | KLHL3 | c.1063T= (p.Phe355=) n.650T= c.*335-10672T= (n.*335-10672T=) c.943T= (p.Phe315=) c.817T= (p.Phe273=) n.688T= c.967T= (p.Phe323=) | |
5 | g.137639109A>C | CA3422300 | KLHL3 | c.1063T>G (p.Phe355Val) n.650T>G c.*335-10672T>G (n.*335-10672T>G) c.943T>G (p.Phe315Val) c.817T>G (p.Phe273Val) n.688T>G c.967T>G (p.Phe323Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639109A>G | CA361048337 | KLHL3 | c.1063T>C (p.Phe355Leu) n.650T>C c.*335-10672T>C (n.*335-10672T>C) c.943T>C (p.Phe315Leu) c.817T>C (p.Phe273Leu) n.688T>C c.967T>C (p.Phe323Leu) | |
5 | g.137639109A>T | CA361048339 | KLHL3 | c.1063T>A (p.Phe355Ile) n.650T>A c.*335-10672T>A (n.*335-10672T>A) c.943T>A (p.Phe315Ile) c.817T>A (p.Phe273Ile) n.688T>A c.967T>A (p.Phe323Ile) | |
5 | g.137639110C>A | CA128103961 | KLHL3 | c.1062G>T (p.Gly354=) n.649G>T c.*335-10673G>T (n.*335-10673G>T) c.942G>T (p.Gly314=) c.816G>T (p.Gly272=) n.687G>T c.966G>T (p.Gly322=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639110C= | CA1585497685 | KLHL3 | c.1062G= (p.Gly354=) n.649G= c.*335-10673G= (n.*335-10673G=) c.942G= (p.Gly314=) c.816G= (p.Gly272=) n.687G= c.966G= (p.Gly322=) | |
5 | g.137639110C>G | CA446561130 | KLHL3 | c.1062G>C (p.Gly354=) n.649G>C c.*335-10673G>C (n.*335-10673G>C) c.942G>C (p.Gly314=) c.816G>C (p.Gly272=) n.687G>C c.966G>C (p.Gly322=) | |
5 | g.137639110C>T | CA446561131 | KLHL3 | c.1062G>A (p.Gly354=) n.649G>A c.*335-10673G>A (n.*335-10673G>A) c.942G>A (p.Gly314=) c.816G>A (p.Gly272=) n.687G>A c.966G>A (p.Gly322=) | gnomAD v4 |
5 | g.137639111C>A | CA361048343 | KLHL3 | c.1061G>T (p.Gly354Val) n.648G>T c.*335-10674G>T (n.*335-10674G>T) c.941G>T (p.Gly314Val) c.815G>T (p.Gly272Val) n.686G>T c.965G>T (p.Gly322Val) | |
5 | g.137639111C>G | CA361048344 | KLHL3 | c.1061G>C (p.Gly354Ala) n.648G>C c.*335-10674G>C (n.*335-10674G>C) c.941G>C (p.Gly314Ala) c.815G>C (p.Gly272Ala) n.686G>C c.965G>C (p.Gly322Ala) | |
5 | g.137639111C>T | CA361048346 | KLHL3 | c.1061G>A (p.Gly354Glu) n.648G>A c.*335-10674G>A (n.*335-10674G>A) c.941G>A (p.Gly314Glu) c.815G>A (p.Gly272Glu) n.686G>A c.965G>A (p.Gly322Glu) | gnomAD v4 |
5 | g.137639112C>A | CA361048348 | KLHL3 | c.1060G>T (p.Gly354Trp) n.647G>T c.*335-10675G>T (n.*335-10675G>T) c.940G>T (p.Gly314Trp) c.814G>T (p.Gly272Trp) n.685G>T c.964G>T (p.Gly322Trp) | |
5 | g.137639112C>G | CA361048352 | KLHL3 | c.1060G>C (p.Gly354Arg) n.647G>C c.*335-10675G>C (n.*335-10675G>C) c.940G>C (p.Gly314Arg) c.814G>C (p.Gly272Arg) n.685G>C c.964G>C (p.Gly322Arg) | |
5 | g.137639112C>T | CA361048350 | KLHL3 | c.1060G>A (p.Gly354Arg) n.647G>A c.*335-10675G>A (n.*335-10675G>A) c.940G>A (p.Gly314Arg) c.814G>A (p.Gly272Arg) n.685G>A c.964G>A (p.Gly322Arg) | |
5 | g.137639113T>A | CA446561134 | KLHL3 | c.1059A>T (p.Gly353=) n.646A>T c.*335-10676A>T (n.*335-10676A>T) c.939A>T (p.Gly313=) c.813A>T (p.Gly271=) n.684A>T c.963A>T (p.Gly321=) | |
5 | g.137639113T>C | CA446561132 | KLHL3 | c.1059A>G (p.Gly353=) n.646A>G c.*335-10676A>G (n.*335-10676A>G) c.939A>G (p.Gly313=) c.813A>G (p.Gly271=) n.684A>G c.963A>G (p.Gly321=) | |
5 | g.137639113T>G | CA446561133 | KLHL3 | c.1059A>C (p.Gly353=) n.646A>C c.*335-10676A>C (n.*335-10676A>C) c.939A>C (p.Gly313=) c.813A>C (p.Gly271=) n.684A>C c.963A>C (p.Gly321=) | |
5 | g.137639114C>A | CA361048354 | KLHL3 | c.1058G>T (p.Gly353Val) n.645G>T c.*335-10677G>T (n.*335-10677G>T) c.938G>T (p.Gly313Val) c.812G>T (p.Gly271Val) n.683G>T c.962G>T (p.Gly321Val) | |
5 | g.137639114C>G | CA361048358 | KLHL3 | c.1058G>C (p.Gly353Ala) n.645G>C c.*335-10677G>C (n.*335-10677G>C) c.938G>C (p.Gly313Ala) c.812G>C (p.Gly271Ala) n.683G>C c.962G>C (p.Gly321Ala) | |
5 | g.137639114C>T | CA361048356 | KLHL3 | c.1058G>A (p.Gly353Glu) n.645G>A c.*335-10677G>A (n.*335-10677G>A) c.938G>A (p.Gly313Glu) c.812G>A (p.Gly271Glu) n.683G>A c.962G>A (p.Gly321Glu) | COSMIC |
5 | g.137639115C>A | CA361048360 | KLHL3 | c.1057G>T (p.Gly353Ter) n.644G>T c.*335-10678G>T (n.*335-10678G>T) c.937G>T (p.Gly313Ter) c.811G>T (p.Gly271Ter) n.682G>T c.961G>T (p.Gly321Ter) | |
5 | g.137639115C>G | CA361048364 | KLHL3 | c.1057G>C (p.Gly353Arg) n.644G>C c.*335-10678G>C (n.*335-10678G>C) c.937G>C (p.Gly313Arg) c.811G>C (p.Gly271Arg) n.682G>C c.961G>C (p.Gly321Arg) | gnomAD v4 |
5 | g.137639115C>T | CA361048362 | KLHL3 | c.1057G>A (p.Gly353Arg) n.644G>A c.*335-10678G>A (n.*335-10678G>A) c.937G>A (p.Gly313Arg) c.811G>A (p.Gly271Arg) n.682G>A c.961G>A (p.Gly321Arg) | |
5 | g.137639116C>A | CA446561138 | KLHL3 | c.1056G>T (p.Val352=) n.643G>T c.*335-10679G>T (n.*335-10679G>T) c.936G>T (p.Val312=) c.810G>T (p.Val270=) n.681G>T c.960G>T (p.Val320=) | gnomAD v4 |
5 | g.137639116C>G | CA446561139 | KLHL3 | c.1056G>C (p.Val352=) n.643G>C c.*335-10679G>C (n.*335-10679G>C) c.936G>C (p.Val312=) c.810G>C (p.Val270=) n.681G>C c.960G>C (p.Val320=) | |
5 | g.137639116C>T | CA446561140 | KLHL3 | c.1056G>A (p.Val352=) n.643G>A c.*335-10679G>A (n.*335-10679G>A) c.936G>A (p.Val312=) c.810G>A (p.Val270=) n.681G>A c.960G>A (p.Val320=) | |
5 | g.137639117A>C | CA361048367 | KLHL3 | c.1055T>G (p.Val352Gly) n.642T>G c.*335-10680T>G (n.*335-10680T>G) c.935T>G (p.Val312Gly) c.809T>G (p.Val270Gly) n.680T>G c.959T>G (p.Val320Gly) | |
5 | g.137639117A>G | CA361048368 | KLHL3 | c.1055T>C (p.Val352Ala) n.642T>C c.*335-10680T>C (n.*335-10680T>C) c.935T>C (p.Val312Ala) c.809T>C (p.Val270Ala) n.680T>C c.959T>C (p.Val320Ala) | |
5 | g.137639117A>T | CA361048370 | KLHL3 | c.1055T>A (p.Val352Glu) n.642T>A c.*335-10680T>A (n.*335-10680T>A) c.935T>A (p.Val312Glu) c.809T>A (p.Val270Glu) n.680T>A c.959T>A (p.Val320Glu) | |
5 | g.137639117dup | CA2675417612 | KLHL3 | c.1055dup (p.Gly354ArgfsTer3) n.642dup c.*335-10680dup (n.*335-10680dup) c.935dup (p.Gly314ArgfsTer3) c.809dup (p.Gly272ArgfsTer3) n.680dup c.959dup (p.Gly322ArgfsTer3) | gnomAD v4 |
5 | g.137639118C>A | CA361048373 | KLHL3 | c.1054G>T (p.Val352Leu) n.641G>T c.*335-10681G>T (n.*335-10681G>T) c.934G>T (p.Val312Leu) c.808G>T (p.Val270Leu) n.679G>T c.958G>T (p.Val320Leu) | gnomAD v4 |
5 | g.137639118C= | CA1585497687 | KLHL3 | c.1054G= (p.Val352=) n.641G= c.*335-10681G= (n.*335-10681G=) c.934G= (p.Val312=) c.808G= (p.Val270=) n.679G= c.958G= (p.Val320=) | |
5 | g.137639118C>G | CA361048374 | KLHL3 | c.1054G>C (p.Val352Leu) n.641G>C c.*335-10681G>C (n.*335-10681G>C) c.934G>C (p.Val312Leu) c.808G>C (p.Val270Leu) n.679G>C c.958G>C (p.Val320Leu) | |
5 | g.137639118C>T | CA128103963 | KLHL3 | c.1054G>A (p.Val352Met) n.641G>A c.*335-10681G>A (n.*335-10681G>A) c.934G>A (p.Val312Met) c.808G>A (p.Val270Met) n.679G>A c.958G>A (p.Val320Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.137639119G>A | CA3422301 | KLHL3 | c.1053C>T (p.Ala351=) n.640C>T c.*335-10682C>T (n.*335-10682C>T) c.933C>T (p.Ala311=) c.807C>T (p.Ala269=) n.678C>T c.957C>T (p.Ala319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.137639119G>C | CA446561142 | KLHL3 | c.1053C>G (p.Ala351=) n.640C>G c.*335-10682C>G (n.*335-10682C>G) c.933C>G (p.Ala311=) c.807C>G (p.Ala269=) n.678C>G c.957C>G (p.Ala319=) | |
5 | g.137639119G= | CA1585497689 | KLHL3 | c.1053C= (p.Ala351=) n.640C= c.*335-10682C= (n.*335-10682C=) c.933C= (p.Ala311=) c.807C= (p.Ala269=) n.678C= c.957C= (p.Ala319=) | |
5 | g.137639119G>T | CA446561143 | KLHL3 | c.1053C>A (p.Ala351=) n.640C>A c.*335-10682C>A (n.*335-10682C>A) c.933C>A (p.Ala311=) c.807C>A (p.Ala269=) n.678C>A c.957C>A (p.Ala319=) | |
5 | g.137639120G>A | CA361048379 | KLHL3 | c.1052C>T (p.Ala351Val) n.639C>T c.*335-10683C>T (n.*335-10683C>T) c.932C>T (p.Ala311Val) c.806C>T (p.Ala269Val) n.677C>T c.956C>T (p.Ala319Val) | |
5 | g.137639120G>C | CA361048380 | KLHL3 | c.1052C>G (p.Ala351Gly) n.639C>G c.*335-10683C>G (n.*335-10683C>G) c.932C>G (p.Ala311Gly) c.806C>G (p.Ala269Gly) n.677C>G c.956C>G (p.Ala319Gly) | |
5 | g.137639120G>T | CA361048382 | KLHL3 | c.1052C>A (p.Ala351Asp) n.639C>A c.*335-10683C>A (n.*335-10683C>A) c.932C>A (p.Ala311Asp) c.806C>A (p.Ala269Asp) n.677C>A c.956C>A (p.Ala319Asp) | |
5 | g.137639121C>A | CA361048384 | KLHL3 | c.1051G>T (p.Ala351Ser) n.638G>T c.*335-10684G>T (n.*335-10684G>T) c.931G>T (p.Ala311Ser) c.805G>T (p.Ala269Ser) n.676G>T c.955G>T (p.Ala319Ser) | |
5 | g.137639121C>G | CA361048386 | KLHL3 | c.1051G>C (p.Ala351Pro) n.638G>C c.*335-10684G>C (n.*335-10684G>C) c.931G>C (p.Ala311Pro) c.805G>C (p.Ala269Pro) n.676G>C c.955G>C (p.Ala319Pro) | |
5 | g.137639121C>T | CA361048388 | KLHL3 | c.1051G>A (p.Ala351Thr) n.638G>A c.*335-10684G>A (n.*335-10684G>A) c.931G>A (p.Ala311Thr) c.805G>A (p.Ala269Thr) n.676G>A c.955G>A (p.Ala319Thr) | |
5 | g.137639121_137639131delinsCATACACGTGG | CA1585497691 | KLHL3 | c.1041_1051delinsCCACGTGTATG (p.Gly347=) n.628_638delinsCCACGTGTATG c.*335-10694_*335-10684delinsCCACGTGTATG (n.*335-10694_*335-10684delinsCCACGTGTATG) c.921_931delinsCCACGTGTATG (p.Gly307=) c.795_805delinsCCACGTGTATG (p.Gly265=) n.666_676delinsCCACGTGTATG c.945_955delinsCCACGTGTATG (p.Gly315=) | |
5 | g.137639122A>C | CA361048391 | KLHL3 | c.1050T>G (p.Tyr350Ter) n.637T>G c.*335-10685T>G (n.*335-10685T>G) c.930T>G (p.Tyr310Ter) c.804T>G (p.Tyr268Ter) n.675T>G c.954T>G (p.Tyr318Ter) | |
5 | g.137639122A>G | CA446561147 | KLHL3 | c.1050T>C (p.Tyr350=) n.637T>C c.*335-10685T>C (n.*335-10685T>C) c.930T>C (p.Tyr310=) c.804T>C (p.Tyr268=) n.675T>C c.954T>C (p.Tyr318=) | |
5 | g.137639122A>T | CA361048389 | KLHL3 | c.1050T>A (p.Tyr350Ter) n.637T>A c.*335-10685T>A (n.*335-10685T>A) c.930T>A (p.Tyr310Ter) c.804T>A (p.Tyr268Ter) n.675T>A c.954T>A (p.Tyr318Ter) | |
5 | g.137639122_137639131del | CA446561148 | KLHL3 | c.1041_1050del (p.His348ProfsTer20) n.628_637del c.*335-10694_*335-10685del (n.*335-10694_*335-10685del) c.921_930del (p.His308ProfsTer20) c.795_804del (p.His266ProfsTer20) n.666_675del c.945_954del (p.His316ProfsTer20) | dbSNP |
5 | g.137639123T>A | CA361048393 | KLHL3 | c.1049A>T (p.Tyr350Phe) n.636A>T c.*335-10686A>T (n.*335-10686A>T) c.929A>T (p.Tyr310Phe) c.803A>T (p.Tyr268Phe) n.674A>T c.953A>T (p.Tyr318Phe) | dbSNP gnomAD v4 |
5 | g.137639123T>C | CA361048395 | KLHL3 | c.1049A>G (p.Tyr350Cys) n.636A>G c.*335-10686A>G (n.*335-10686A>G) c.929A>G (p.Tyr310Cys) c.803A>G (p.Tyr268Cys) n.674A>G c.953A>G (p.Tyr318Cys) | |
5 | g.137639123T>G | CA361048397 | KLHL3 | c.1049A>C (p.Tyr350Ser) n.636A>C c.*335-10686A>C (n.*335-10686A>C) c.929A>C (p.Tyr310Ser) c.803A>C (p.Tyr268Ser) n.674A>C c.953A>C (p.Tyr318Ser) | |
5 | g.137639123T= | CA1585497694 | KLHL3 | c.1049A= (p.Tyr350=) n.636A= c.*335-10686A= (n.*335-10686A=) c.929A= (p.Tyr310=) c.803A= (p.Tyr268=) n.674A= c.953A= (p.Tyr318=) | |
5 | g.137639123_137639132del | CA361048398 | KLHL3 | c.1040_1049del (p.Gly347ValfsTer21) n.627_636del c.*335-10695_*335-10686del (n.*335-10695_*335-10686del) c.920_929del (p.Gly307ValfsTer21) c.794_803del (p.Gly265ValfsTer21) n.665_674del c.944_953del (p.Gly315ValfsTer21) | |
5 | g.137639124A>C | CA361048400 | KLHL3 | c.1048T>G (p.Tyr350Asp) n.635T>G c.*335-10687T>G (n.*335-10687T>G) c.928T>G (p.Tyr310Asp) c.802T>G (p.Tyr268Asp) n.673T>G c.952T>G (p.Tyr318Asp) | |
5 | g.137639124A>G | CA361048402 | KLHL3 | c.1048T>C (p.Tyr350His) n.635T>C c.*335-10687T>C (n.*335-10687T>C) c.928T>C (p.Tyr310His) c.802T>C (p.Tyr268His) n.673T>C c.952T>C (p.Tyr318His) | |
5 | g.137639124A>T | CA361048403 | KLHL3 | c.1048T>A (p.Tyr350Asn) n.635T>A c.*335-10687T>A (n.*335-10687T>A) c.928T>A (p.Tyr310Asn) c.802T>A (p.Tyr268Asn) n.673T>A c.952T>A (p.Tyr318Asn) | |
5 | g.137639125C>A | CA446561150 | KLHL3 | c.1047G>T (p.Val349=) n.634G>T c.*335-10688G>T (n.*335-10688G>T) c.927G>T (p.Val309=) c.801G>T (p.Val267=) n.672G>T c.951G>T (p.Val317=) | |
5 | g.137639125C>G | CA446561151 | KLHL3 | c.1047G>C (p.Val349=) n.634G>C c.*335-10688G>C (n.*335-10688G>C) c.927G>C (p.Val309=) c.801G>C (p.Val267=) n.672G>C c.951G>C (p.Val317=) | |
5 | g.137639125C>T | CA446561152 | KLHL3 | c.1047G>A (p.Val349=) n.634G>A c.*335-10688G>A (n.*335-10688G>A) c.927G>A (p.Val309=) c.801G>A (p.Val267=) n.672G>A c.951G>A (p.Val317=) | |
5 | g.137639126A>C | CA361048406 | KLHL3 | c.1046T>G (p.Val349Gly) n.633T>G c.*335-10689T>G (n.*335-10689T>G) c.926T>G (p.Val309Gly) c.800T>G (p.Val267Gly) n.671T>G c.950T>G (p.Val317Gly) | |
5 | g.137639126A>G | CA361048407 | KLHL3 | c.1046T>C (p.Val349Ala) n.633T>C c.*335-10689T>C (n.*335-10689T>C) c.926T>C (p.Val309Ala) c.800T>C (p.Val267Ala) n.671T>C c.950T>C (p.Val317Ala) | |
5 | g.137639126A>T | CA361048409 | KLHL3 | c.1046T>A (p.Val349Glu) n.633T>A c.*335-10689T>A (n.*335-10689T>A) c.926T>A (p.Val309Glu) c.800T>A (p.Val267Glu) n.671T>A c.950T>A (p.Val317Glu) | |
5 | g.137639127C>A | CA361048411 | KLHL3 | c.1045G>T (p.Val349Leu) n.632G>T c.*335-10690G>T (n.*335-10690G>T) c.925G>T (p.Val309Leu) c.799G>T (p.Val267Leu) n.670G>T c.949G>T (p.Val317Leu) | gnomAD v4 |
5 | g.137639127C= | CA1585497698 | KLHL3 | c.1045G= (p.Val349=) n.632G= c.*335-10690G= (n.*335-10690G=) c.925G= (p.Val309=) c.799G= (p.Val267=) n.670G= c.949G= (p.Val317=) | |
5 | g.137639127C>G | CA361048413 | KLHL3 | c.1045G>C (p.Val349Leu) n.632G>C c.*335-10690G>C (n.*335-10690G>C) c.925G>C (p.Val309Leu) c.799G>C (p.Val267Leu) n.670G>C c.949G>C (p.Val317Leu) | |
5 | g.137639127C>T | CA3422302 | KLHL3 | c.1045G>A (p.Val349Met) n.632G>A c.*335-10690G>A (n.*335-10690G>A) c.925G>A (p.Val309Met) c.799G>A (p.Val267Met) n.670G>A c.949G>A (p.Val317Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.137639128G>A | CA3422303 | KLHL3 | c.1044C>T (p.His348=) n.631C>T c.*335-10691C>T (n.*335-10691C>T) c.924C>T (p.His308=) c.798C>T (p.His266=) n.669C>T c.948C>T (p.His316=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639128G>C | CA361048418 | KLHL3 | c.1044C>G (p.His348Gln) n.631C>G c.*335-10691C>G (n.*335-10691C>G) c.924C>G (p.His308Gln) c.798C>G (p.His266Gln) n.669C>G c.948C>G (p.His316Gln) | |
5 | g.137639128G= | CA1585497700 | KLHL3 | c.1044C= (p.His348=) n.631C= c.*335-10691C= (n.*335-10691C=) c.924C= (p.His308=) c.798C= (p.His266=) n.669C= c.948C= (p.His316=) | |
5 | g.137639128G>T | CA361048416 | KLHL3 | c.1044C>A (p.His348Gln) n.631C>A c.*335-10691C>A (n.*335-10691C>A) c.924C>A (p.His308Gln) c.798C>A (p.His266Gln) n.669C>A c.948C>A (p.His316Gln) | |
5 | g.137639129T>A | CA361048420 | KLHL3 | c.1043A>T (p.His348Leu) n.630A>T c.*335-10692A>T (n.*335-10692A>T) c.923A>T (p.His308Leu) c.797A>T (p.His266Leu) n.668A>T c.947A>T (p.His316Leu) | |
5 | g.137639129T>C | CA3422304 | KLHL3 | c.1043A>G (p.His348Arg) n.630A>G c.*335-10692A>G (n.*335-10692A>G) c.923A>G (p.His308Arg) c.797A>G (p.His266Arg) n.668A>G c.947A>G (p.His316Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639129T>G | CA361048423 | KLHL3 | c.1043A>C (p.His348Pro) n.630A>C c.*335-10692A>C (n.*335-10692A>C) c.923A>C (p.His308Pro) c.797A>C (p.His266Pro) n.668A>C c.947A>C (p.His316Pro) | |
5 | g.137639129T= | CA1585497702 | KLHL3 | c.1043A= (p.His348=) n.630A= c.*335-10692A= (n.*335-10692A=) c.923A= (p.His308=) c.797A= (p.His266=) n.668A= c.947A= (p.His316=) | |
5 | g.137639130G>A | CA128103968 | KLHL3 | c.1042C>T (p.His348Tyr) n.629C>T c.*335-10693C>T (n.*335-10693C>T) c.922C>T (p.His308Tyr) c.796C>T (p.His266Tyr) n.667C>T c.946C>T (p.His316Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639130G>C | CA361048425 | KLHL3 | c.1042C>G (p.His348Asp) n.629C>G c.*335-10693C>G (n.*335-10693C>G) c.922C>G (p.His308Asp) c.796C>G (p.His266Asp) n.667C>G c.946C>G (p.His316Asp) | |
5 | g.137639130G= | CA1585497708 | KLHL3 | c.1042C= (p.His348=) n.629C= c.*335-10693C= (n.*335-10693C=) c.922C= (p.His308=) c.796C= (p.His266=) n.667C= c.946C= (p.His316=) | |
5 | g.137639130G>T | CA361048427 | KLHL3 | c.1042C>A (p.His348Asn) n.629C>A c.*335-10693C>A (n.*335-10693C>A) c.922C>A (p.His308Asn) c.796C>A (p.His266Asn) n.667C>A c.946C>A (p.His316Asn) | |
5 | g.137639131G>A | CA446561162 | KLHL3 | c.1041C>T (p.Gly347=) n.628C>T c.*335-10694C>T (n.*335-10694C>T) c.921C>T (p.Gly307=) c.795C>T (p.Gly265=) n.666C>T c.945C>T (p.Gly315=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.137639131G>C | CA3422305 | KLHL3 | c.1041C>G (p.Gly347=) n.628C>G c.*335-10694C>G (n.*335-10694C>G) c.921C>G (p.Gly307=) c.795C>G (p.Gly265=) n.666C>G c.945C>G (p.Gly315=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.137639131G= | CA1585497712 | KLHL3 | c.1041C= (p.Gly347=) n.628C= c.*335-10694C= (n.*335-10694C=) c.921C= (p.Gly307=) c.795C= (p.Gly265=) n.666C= c.945C= (p.Gly315=) | |
5 | g.137639131G>T | CA446561164 | KLHL3 | c.1041C>A (p.Gly347=) n.628C>A c.*335-10694C>A (n.*335-10694C>A) c.921C>A (p.Gly307=) c.795C>A (p.Gly265=) n.666C>A c.945C>A (p.Gly315=) | gnomAD v4 |
5 | g.137639132C>A | CA361048430 | KLHL3 | c.1040G>T (p.Gly347Val) n.627G>T c.*335-10695G>T (n.*335-10695G>T) c.920G>T (p.Gly307Val) c.794G>T (p.Gly265Val) n.665G>T c.944G>T (p.Gly315Val) | |
5 | g.137639132C= | CA1585497717 | KLHL3 | c.1040G= (p.Gly347=) n.627G= c.*335-10695G= (n.*335-10695G=) c.920G= (p.Gly307=) c.794G= (p.Gly265=) n.665G= c.944G= (p.Gly315=) | |
5 | g.137639132C>G | CA361048432 | KLHL3 | c.1040G>C (p.Gly347Ala) n.627G>C c.*335-10695G>C (n.*335-10695G>C) c.920G>C (p.Gly307Ala) c.794G>C (p.Gly265Ala) n.665G>C c.944G>C (p.Gly315Ala) | |
5 | g.137639132C>T | CA361048433 | KLHL3 | c.1040G>A (p.Gly347Asp) n.627G>A c.*335-10695G>A (n.*335-10695G>A) c.920G>A (p.Gly307Asp) c.794G>A (p.Gly265Asp) n.665G>A c.944G>A (p.Gly315Asp) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.137639133C>A | CA361048437 | KLHL3 | c.1039G>T (p.Gly347Cys) n.626G>T c.*335-10696G>T (n.*335-10696G>T) c.919G>T (p.Gly307Cys) c.793G>T (p.Gly265Cys) n.664G>T c.943G>T (p.Gly315Cys) | |
5 | g.137639133C>G | CA361048438 | KLHL3 | c.1039G>C (p.Gly347Arg) n.626G>C c.*335-10696G>C (n.*335-10696G>C) c.919G>C (p.Gly307Arg) c.793G>C (p.Gly265Arg) n.664G>C c.943G>C (p.Gly315Arg) | |
5 | g.137639133C>T | CA361048440 | KLHL3 | c.1039G>A (p.Gly347Ser) n.626G>A c.*335-10696G>A (n.*335-10696G>A) c.919G>A (p.Gly307Ser) c.793G>A (p.Gly265Ser) n.664G>A c.943G>A (p.Gly315Ser) | |
5 | g.137639134A>C | CA446561169 | KLHL3 | c.1038T>G (p.Ala346=) n.625T>G c.*335-10697T>G (n.*335-10697T>G) c.918T>G (p.Ala306=) c.792T>G (p.Ala264=) n.663T>G c.942T>G (p.Ala314=) | |
5 | g.137639134A>G | CA446561171 | KLHL3 | c.1038T>C (p.Ala346=) n.625T>C c.*335-10697T>C (n.*335-10697T>C) c.918T>C (p.Ala306=) c.792T>C (p.Ala264=) n.663T>C c.942T>C (p.Ala314=) | |
5 | g.137639134A>T | CA446561170 | KLHL3 | c.1038T>A (p.Ala346=) n.625T>A c.*335-10697T>A (n.*335-10697T>A) c.918T>A (p.Ala306=) c.792T>A (p.Ala264=) n.663T>A c.942T>A (p.Ala314=) | |
5 | g.137639135G>A | CA3422306 | KLHL3 | c.1037C>T (p.Ala346Val) n.624C>T c.*335-10698C>T (n.*335-10698C>T) c.917C>T (p.Ala306Val) c.791C>T (p.Ala264Val) n.662C>T c.941C>T (p.Ala314Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639135G>C | CA361048444 | KLHL3 | c.1037C>G (p.Ala346Gly) n.624C>G c.*335-10698C>G (n.*335-10698C>G) c.917C>G (p.Ala306Gly) c.791C>G (p.Ala264Gly) n.662C>G c.941C>G (p.Ala314Gly) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.137639135G= | CA1585497721 | KLHL3 | c.1037C= (p.Ala346=) n.624C= c.*335-10698C= (n.*335-10698C=) c.917C= (p.Ala306=) c.791C= (p.Ala264=) n.662C= c.941C= (p.Ala314=) | |
5 | g.137639135G>T | CA361048443 | KLHL3 | c.1037C>A (p.Ala346Asp) n.624C>A c.*335-10698C>A (n.*335-10698C>A) c.917C>A (p.Ala306Asp) c.791C>A (p.Ala264Asp) n.662C>A c.941C>A (p.Ala314Asp) | dbSNP |
5 | g.137639136C>A | CA361048446 | KLHL3 | c.1036G>T (p.Ala346Ser) n.623G>T c.*335-10699G>T (n.*335-10699G>T) c.916G>T (p.Ala306Ser) c.790G>T (p.Ala264Ser) n.661G>T c.940G>T (p.Ala314Ser) | dbSNP |
5 | g.137639136C= | CA1585497727 | KLHL3 | c.1036G= (p.Ala346=) n.623G= c.*335-10699G= (n.*335-10699G=) c.916G= (p.Ala306=) c.790G= (p.Ala264=) n.661G= c.940G= (p.Ala314=) | |
5 | g.137639136C>G | CA361048448 | KLHL3 | c.1036G>C (p.Ala346Pro) n.623G>C c.*335-10699G>C (n.*335-10699G>C) c.916G>C (p.Ala306Pro) c.790G>C (p.Ala264Pro) n.661G>C c.940G>C (p.Ala314Pro) | |
5 | g.137639136C>T | CA361048450 | KLHL3 | c.1036G>A (p.Ala346Thr) n.623G>A c.*335-10699G>A (n.*335-10699G>A) c.916G>A (p.Ala306Thr) c.790G>A (p.Ala264Thr) n.661G>A c.940G>A (p.Ala314Thr) | dbSNP gnomAD v4 |
5 | g.137639137C>A | CA361048452 | KLHL3 | c.1035G>T (p.Met345Ile) n.622G>T c.*335-10700G>T (n.*335-10700G>T) c.915G>T (p.Met305Ile) c.789G>T (p.Met263Ile) n.660G>T c.939G>T (p.Met313Ile) | |
5 | g.137639137C= | CA1585497730 | KLHL3 | c.1035G= (p.Met345=) n.622G= c.*335-10700G= (n.*335-10700G=) c.915G= (p.Met305=) c.789G= (p.Met263=) n.660G= c.939G= (p.Met313=) | |
5 | g.137639137C>G | CA361048454 | KLHL3 | c.1035G>C (p.Met345Ile) n.622G>C c.*335-10700G>C (n.*335-10700G>C) c.915G>C (p.Met305Ile) c.789G>C (p.Met263Ile) n.660G>C c.939G>C (p.Met313Ile) | |
5 | g.137639137C>T | CA361048456 | KLHL3 | c.1035G>A (p.Met345Ile) n.622G>A c.*335-10700G>A (n.*335-10700G>A) c.915G>A (p.Met305Ile) c.789G>A (p.Met263Ile) n.660G>A c.939G>A (p.Met313Ile) | dbSNP |
5 | g.137639138A>C | CA361048458 | KLHL3 | c.1034T>G (p.Met345Arg) n.621T>G c.*335-10701T>G (n.*335-10701T>G) c.914T>G (p.Met305Arg) c.788T>G (p.Met263Arg) n.659T>G c.938T>G (p.Met313Arg) | |
5 | g.137639138A>G | CA361048459 | KLHL3 | c.1034T>C (p.Met345Thr) n.621T>C c.*335-10701T>C (n.*335-10701T>C) c.914T>C (p.Met305Thr) c.788T>C (p.Met263Thr) n.659T>C c.938T>C (p.Met313Thr) | |
5 | g.137639138A>T | CA361048460 | KLHL3 | c.1034T>A (p.Met345Lys) n.621T>A c.*335-10701T>A (n.*335-10701T>A) c.914T>A (p.Met305Lys) c.788T>A (p.Met263Lys) n.659T>A c.938T>A (p.Met313Lys) | |
5 | g.137639139T>A | CA361048465 | KLHL3 | c.1033A>T (p.Met345Leu) n.620A>T c.*335-10702A>T (n.*335-10702A>T) c.913A>T (p.Met305Leu) c.787A>T (p.Met263Leu) n.658A>T c.937A>T (p.Met313Leu) | |
5 | g.137639139T>C | CA361048463 | KLHL3 | c.1033A>G (p.Met345Val) n.620A>G c.*335-10702A>G (n.*335-10702A>G) c.913A>G (p.Met305Val) c.787A>G (p.Met263Val) n.658A>G c.937A>G (p.Met313Val) | |
5 | g.137639139T>G | CA361048462 | KLHL3 | c.1033A>C (p.Met345Leu) n.620A>C c.*335-10702A>C (n.*335-10702A>C) c.913A>C (p.Met305Leu) c.787A>C (p.Met263Leu) n.658A>C c.937A>C (p.Met313Leu) | |
5 | g.137639140G>A | CA446561175 | KLHL3 | c.1032C>T (p.Phe344=) n.619C>T c.*335-10703C>T (n.*335-10703C>T) c.912C>T (p.Phe304=) c.786C>T (p.Phe262=) n.657C>T c.936C>T (p.Phe312=) | |
5 | g.137639140G>C | CA361048467 | KLHL3 | c.1032C>G (p.Phe344Leu) n.619C>G c.*335-10703C>G (n.*335-10703C>G) c.912C>G (p.Phe304Leu) c.786C>G (p.Phe262Leu) n.657C>G c.936C>G (p.Phe312Leu) | |
5 | g.137639140G>T | CA361048468 | KLHL3 | c.1032C>A (p.Phe344Leu) n.619C>A c.*335-10703C>A (n.*335-10703C>A) c.912C>A (p.Phe304Leu) c.786C>A (p.Phe262Leu) n.657C>A c.936C>A (p.Phe312Leu) | |
5 | g.137639141A>C | CA361048470 | KLHL3 | c.1031T>G (p.Phe344Cys) n.618T>G c.*335-10704T>G (n.*335-10704T>G) c.911T>G (p.Phe304Cys) c.785T>G (p.Phe262Cys) n.656T>G c.935T>G (p.Phe312Cys) | |
5 | g.137639141A>G | CA361048472 | KLHL3 | c.1031T>C (p.Phe344Ser) n.618T>C c.*335-10704T>C (n.*335-10704T>C) c.911T>C (p.Phe304Ser) c.785T>C (p.Phe262Ser) n.656T>C c.935T>C (p.Phe312Ser) | |
5 | g.137639141A>T | CA361048474 | KLHL3 | c.1031T>A (p.Phe344Tyr) n.618T>A c.*335-10704T>A (n.*335-10704T>A) c.911T>A (p.Phe304Tyr) c.785T>A (p.Phe262Tyr) n.656T>A c.935T>A (p.Phe312Tyr) | |
5 | g.137639142A>C | CA361048476 | KLHL3 | c.1030T>G (p.Phe344Val) n.617T>G c.*335-10705T>G (n.*335-10705T>G) c.910T>G (p.Phe304Val) c.784T>G (p.Phe262Val) n.655T>G c.934T>G (p.Phe312Val) | |
5 | g.137639142A>G | CA361048478 | KLHL3 | c.1030T>C (p.Phe344Leu) n.617T>C c.*335-10705T>C (n.*335-10705T>C) c.910T>C (p.Phe304Leu) c.784T>C (p.Phe262Leu) n.655T>C c.934T>C (p.Phe312Leu) | |
5 | g.137639142A>T | CA361048480 | KLHL3 | c.1030T>A (p.Phe344Ile) n.617T>A c.*335-10705T>A (n.*335-10705T>A) c.910T>A (p.Phe304Ile) c.784T>A (p.Phe262Ile) n.655T>A c.934T>A (p.Phe312Ile) | |
5 | g.137639143C>A | CA446561180 | KLHL3 | c.1029G>T (p.Val343=) n.616G>T c.*335-10706G>T (n.*335-10706G>T) c.909G>T (p.Val303=) c.783G>T (p.Val261=) n.654G>T c.933G>T (p.Val311=) | |
5 | g.137639143C>G | CA446561181 | KLHL3 | c.1029G>C (p.Val343=) n.616G>C c.*335-10706G>C (n.*335-10706G>C) c.909G>C (p.Val303=) c.783G>C (p.Val261=) n.654G>C c.933G>C (p.Val311=) | |
5 | g.137639143C>T | CA446561182 | KLHL3 | c.1029G>A (p.Val343=) n.616G>A c.*335-10706G>A (n.*335-10706G>A) c.909G>A (p.Val303=) c.783G>A (p.Val261=) n.654G>A c.933G>A (p.Val311=) | |
5 | g.137639144A>C | CA361048482 | KLHL3 | c.1028T>G (p.Val343Gly) n.615T>G c.*335-10707T>G (n.*335-10707T>G) c.908T>G (p.Val303Gly) c.782T>G (p.Val261Gly) n.653T>G c.932T>G (p.Val311Gly) | |
5 | g.137639144A>G | CA361048484 | KLHL3 | c.1028T>C (p.Val343Ala) n.615T>C c.*335-10707T>C (n.*335-10707T>C) c.908T>C (p.Val303Ala) c.782T>C (p.Val261Ala) n.653T>C c.932T>C (p.Val311Ala) | |
5 | g.137639144A>T | CA361048486 | KLHL3 | c.1028T>A (p.Val343Glu) n.615T>A c.*335-10707T>A (n.*335-10707T>A) c.908T>A (p.Val303Glu) c.782T>A (p.Val261Glu) n.653T>A c.932T>A (p.Val311Glu) | |
5 | g.137639145C>A | CA361048488 | KLHL3 | c.1027G>T (p.Val343Leu) n.614G>T c.*335-10708G>T (n.*335-10708G>T) c.907G>T (p.Val303Leu) c.781G>T (p.Val261Leu) n.652G>T c.931G>T (p.Val311Leu) | |
5 | g.137639145C>G | CA361048490 | KLHL3 | c.1027G>C (p.Val343Leu) n.614G>C c.*335-10708G>C (n.*335-10708G>C) c.907G>C (p.Val303Leu) c.781G>C (p.Val261Leu) n.652G>C c.931G>C (p.Val311Leu) | |
5 | g.137639145C>T | CA361048492 | KLHL3 | c.1027G>A (p.Val343Met) n.614G>A c.*335-10708G>A (n.*335-10708G>A) c.907G>A (p.Val303Met) c.781G>A (p.Val261Met) n.652G>A c.931G>A (p.Val311Met) | |
5 | g.137639146C>A | CA446561189 | KLHL3 | c.1026G>T (p.Val342=) n.613G>T c.*335-10709G>T (n.*335-10709G>T) c.906G>T (p.Val302=) c.780G>T (p.Val260=) n.651G>T c.930G>T (p.Val310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639146C= | CA1585497734 | KLHL3 | c.1026G= (p.Val342=) n.613G= c.*335-10709G= (n.*335-10709G=) c.906G= (p.Val302=) c.780G= (p.Val260=) n.651G= c.930G= (p.Val310=) | |
5 | g.137639146C>G | CA446561190 | KLHL3 | c.1026G>C (p.Val342=) n.613G>C c.*335-10709G>C (n.*335-10709G>C) c.906G>C (p.Val302=) c.780G>C (p.Val260=) n.651G>C c.930G>C (p.Val310=) | gnomAD v4 |
5 | g.137639146C>T | CA446561191 | KLHL3 | c.1026G>A (p.Val342=) n.613G>A c.*335-10709G>A (n.*335-10709G>A) c.906G>A (p.Val302=) c.780G>A (p.Val260=) n.651G>A c.930G>A (p.Val310=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.137639147A>C | CA361048498 | KLHL3 | c.1025T>G (p.Val342Gly) n.612T>G c.*335-10710T>G (n.*335-10710T>G) c.905T>G (p.Val302Gly) c.779T>G (p.Val260Gly) n.650T>G c.929T>G (p.Val310Gly) | |
5 | g.137639147A>G | CA361048495 | KLHL3 | c.1025T>C (p.Val342Ala) n.612T>C c.*335-10710T>C (n.*335-10710T>C) c.905T>C (p.Val302Ala) c.779T>C (p.Val260Ala) n.650T>C c.929T>C (p.Val310Ala) | |
5 | g.137639147A>T | CA361048496 | KLHL3 | c.1025T>A (p.Val342Glu) n.612T>A c.*335-10710T>A (n.*335-10710T>A) c.905T>A (p.Val302Glu) c.779T>A (p.Val260Glu) n.650T>A c.929T>A (p.Val310Glu) | |
5 | g.137639148C>A | CA361048500 | KLHL3 | c.1024G>T (p.Val342Leu) n.611G>T c.*335-10711G>T (n.*335-10711G>T) c.904G>T (p.Val302Leu) c.778G>T (p.Val260Leu) n.649G>T c.928G>T (p.Val310Leu) | |
5 | g.137639148C>G | CA361048502 | KLHL3 | c.1024G>C (p.Val342Leu) n.611G>C c.*335-10711G>C (n.*335-10711G>C) c.904G>C (p.Val302Leu) c.778G>C (p.Val260Leu) n.649G>C c.928G>C (p.Val310Leu) | |
5 | g.137639148C>T | CA361048504 | KLHL3 | c.1024G>A (p.Val342Met) n.611G>A c.*335-10711G>A (n.*335-10711G>A) c.904G>A (p.Val302Met) c.778G>A (p.Val260Met) n.649G>A c.928G>A (p.Val310Met) | |
5 | g.137639149A>C | CA446561197 | KLHL3 | c.1023T>G (p.Gly341=) n.610T>G c.*335-10712T>G (n.*335-10712T>G) c.903T>G (p.Gly301=) c.777T>G (p.Gly259=) n.648T>G c.927T>G (p.Gly309=) | |
5 | g.137639149A>G | CA446561195 | KLHL3 | c.1023T>C (p.Gly341=) n.610T>C c.*335-10712T>C (n.*335-10712T>C) c.903T>C (p.Gly301=) c.777T>C (p.Gly259=) n.648T>C c.927T>C (p.Gly309=) | |
5 | g.137639149A>T | CA446561196 | KLHL3 | c.1023T>A (p.Gly341=) n.610T>A c.*335-10712T>A (n.*335-10712T>A) c.903T>A (p.Gly301=) c.777T>A (p.Gly259=) n.648T>A c.927T>A (p.Gly309=) | |
5 | g.137639150C>A | CA361048506 | KLHL3 | c.1022G>T (p.Gly341Val) n.609G>T c.*335-10713G>T (n.*335-10713G>T) c.902G>T (p.Gly301Val) c.776G>T (p.Gly259Val) n.647G>T c.926G>T (p.Gly309Val) | |
5 | g.137639150C>G | CA361048507 | KLHL3 | c.1022G>C (p.Gly341Ala) n.609G>C c.*335-10713G>C (n.*335-10713G>C) c.902G>C (p.Gly301Ala) c.776G>C (p.Gly259Ala) n.647G>C c.926G>C (p.Gly309Ala) | |
5 | g.137639150C>T | CA361048509 | KLHL3 | c.1022G>A (p.Gly341Asp) n.609G>A c.*335-10713G>A (n.*335-10713G>A) c.902G>A (p.Gly301Asp) c.776G>A (p.Gly259Asp) n.647G>A c.926G>A (p.Gly309Asp) | |
5 | g.137639151C>A | CA361048511 | KLHL3 | c.1022-1G>T (n.1022-1G>T) n.609-1G>T c.*335-10714G>T (n.*335-10714G>T) c.902-1G>T (n.902-1G>T) c.776-1G>T (n.776-1G>T) n.647-1G>T c.926-1G>T (n.926-1G>T) | |
5 | g.137639151C>G | CA361048513 | KLHL3 | c.1022-1G>C (n.1022-1G>C) n.609-1G>C c.*335-10714G>C (n.*335-10714G>C) c.902-1G>C (n.902-1G>C) c.776-1G>C (n.776-1G>C) n.647-1G>C c.926-1G>C (n.926-1G>C) | |
5 | g.137639151C>T | CA361048515 | KLHL3 | c.1022-1G>A (n.1022-1G>A) n.609-1G>A c.*335-10714G>A (n.*335-10714G>A) c.902-1G>A (n.902-1G>A) c.776-1G>A (n.776-1G>A) n.647-1G>A c.926-1G>A (n.926-1G>A) | gnomAD v4 |
5 | g.137639152T>A | CA361048517 | KLHL3 | c.1022-2A>T (n.1022-2A>T) n.609-2A>T c.*335-10715A>T (n.*335-10715A>T) c.902-2A>T (n.902-2A>T) c.776-2A>T (n.776-2A>T) n.647-2A>T c.926-2A>T (n.926-2A>T) | |
5 | g.137639152T>C | CA361048519 | KLHL3 | c.1022-2A>G (n.1022-2A>G) n.609-2A>G c.*335-10715A>G (n.*335-10715A>G) c.902-2A>G (n.902-2A>G) c.776-2A>G (n.776-2A>G) n.647-2A>G c.926-2A>G (n.926-2A>G) | |
5 | g.137639152T>G | CA361048522 | KLHL3 | c.1022-2A>C (n.1022-2A>C) n.609-2A>C c.*335-10715A>C (n.*335-10715A>C) c.902-2A>C (n.902-2A>C) c.776-2A>C (n.776-2A>C) n.647-2A>C c.926-2A>C (n.926-2A>C) | |
5 | g.137639153G>A | CA2675417613 | KLHL3 | c.1022-3C>T (n.1022-3C>T) n.609-3C>T c.*335-10716C>T (n.*335-10716C>T) c.902-3C>T (n.902-3C>T) c.776-3C>T (n.776-3C>T) n.647-3C>T c.926-3C>T (n.926-3C>T) | gnomAD v4 |
5 | g.137639155G>C | CA2675417614 | KLHL3 | c.1022-5C>G (n.1022-5C>G) n.609-5C>G c.*335-10718C>G (n.*335-10718C>G) c.902-5C>G (n.902-5C>G) c.776-5C>G (n.776-5C>G) n.647-5C>G c.926-5C>G (n.926-5C>G) | gnomAD v4 |
5 | g.137639156G>A | CA2675417615 | KLHL3 | c.1022-6C>T (n.1022-6C>T) n.609-6C>T c.*335-10719C>T (n.*335-10719C>T) c.902-6C>T (n.902-6C>T) c.776-6C>T (n.776-6C>T) n.647-6C>T c.926-6C>T (n.926-6C>T) | gnomAD v4 |
5 | g.137639158A>G | CA2578414139 | KLHL3 | c.1022-8T>C (n.1022-8T>C) n.609-8T>C c.*335-10721T>C (n.*335-10721T>C) c.902-8T>C (n.902-8T>C) c.776-8T>C (n.776-8T>C) n.647-8T>C c.926-8T>C (n.926-8T>C) | |
5 | g.137639160A= | CA1585497740 | KLHL3 | c.1022-10T= (n.1022-10T=) n.609-10T= c.*335-10723T= (n.*335-10723T=) c.902-10T= (n.902-10T=) c.776-10T= (n.776-10T=) n.647-10T= c.926-10T= (n.926-10T=) | |
5 | g.137639160A>G | CA128104010 | KLHL3 | c.1022-10T>C (n.1022-10T>C) n.609-10T>C c.*335-10723T>C (n.*335-10723T>C) c.902-10T>C (n.902-10T>C) c.776-10T>C (n.776-10T>C) n.647-10T>C c.926-10T>C (n.926-10T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639162G>A | CA2675417616 | KLHL3 | c.1022-12C>T (n.1022-12C>T) n.609-12C>T c.*335-10725C>T (n.*335-10725C>T) c.902-12C>T (n.902-12C>T) c.776-12C>T (n.776-12C>T) n.647-12C>T c.926-12C>T (n.926-12C>T) | gnomAD v4 |
5 | g.137639166C>A | CA128104016 | KLHL3 | c.1022-16G>T (n.1022-16G>T) n.609-16G>T c.*335-10729G>T (n.*335-10729G>T) c.902-16G>T (n.902-16G>T) c.776-16G>T (n.776-16G>T) n.647-16G>T c.926-16G>T (n.926-16G>T) | dbSNP gnomAD v4 |
5 | g.137639166C= | CA1585497742 | KLHL3 | c.1022-16G= (n.1022-16G=) n.609-16G= c.*335-10729G= (n.*335-10729G=) c.902-16G= (n.902-16G=) c.776-16G= (n.776-16G=) n.647-16G= c.926-16G= (n.926-16G=) | |
5 | g.137639167C= | CA1585497744 | KLHL3 | c.1022-17G= (n.1022-17G=) n.609-17G= c.*335-10730G= (n.*335-10730G=) c.902-17G= (n.902-17G=) c.776-17G= (n.776-17G=) n.647-17G= c.926-17G= (n.926-17G=) | |
5 | g.137639167C>G | CA128104019 | KLHL3 | c.1022-17G>C (n.1022-17G>C) n.609-17G>C c.*335-10730G>C (n.*335-10730G>C) c.902-17G>C (n.902-17G>C) c.776-17G>C (n.776-17G>C) n.647-17G>C c.926-17G>C (n.926-17G>C) | dbSNP gnomAD v4 |
5 | g.137639167C>T | CA2675417617 | KLHL3 | c.1022-17G>A (n.1022-17G>A) n.609-17G>A c.*335-10730G>A (n.*335-10730G>A) c.902-17G>A (n.902-17G>A) c.776-17G>A (n.776-17G>A) n.647-17G>A c.926-17G>A (n.926-17G>A) | gnomAD v4 |
5 | g.137639168A= | CA1585497746 | KLHL3 | c.1022-18T= (n.1022-18T=) n.609-18T= c.*335-10731T= (n.*335-10731T=) c.902-18T= (n.902-18T=) c.776-18T= (n.776-18T=) n.647-18T= c.926-18T= (n.926-18T=) | |
5 | g.137639168A>G | CA1081988333 | KLHL3 | c.1022-18T>C (n.1022-18T>C) n.609-18T>C c.*335-10731T>C (n.*335-10731T>C) c.902-18T>C (n.902-18T>C) c.776-18T>C (n.776-18T>C) n.647-18T>C c.926-18T>C (n.926-18T>C) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.137639170G>A | CA1585497749 | KLHL3 | c.1022-20C>T (n.1022-20C>T) n.609-20C>T c.*335-10733C>T (n.*335-10733C>T) c.902-20C>T (n.902-20C>T) c.776-20C>T (n.776-20C>T) n.647-20C>T c.926-20C>T (n.926-20C>T) | dbSNP |
5 | g.137639170G>C | CA563496613 | KLHL3 | c.1022-20C>G (n.1022-20C>G) n.609-20C>G c.*335-10733C>G (n.*335-10733C>G) c.902-20C>G (n.902-20C>G) c.776-20C>G (n.776-20C>G) n.647-20C>G c.926-20C>G (n.926-20C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639170G= | CA1585497748 | KLHL3 | c.1022-20C= (n.1022-20C=) n.609-20C= c.*335-10733C= (n.*335-10733C=) c.902-20C= (n.902-20C=) c.776-20C= (n.776-20C=) n.647-20C= c.926-20C= (n.926-20C=) | |
5 | g.137639170G>T | CA2768566527 | KLHL3 | c.1022-20C>A (n.1022-20C>A) n.609-20C>A c.*335-10733C>A (n.*335-10733C>A) c.902-20C>A (n.902-20C>A) c.776-20C>A (n.776-20C>A) n.647-20C>A c.926-20C>A (n.926-20C>A) | |
5 | g.137639172C>A | CA2675417618 | KLHL3 | c.1022-22G>T (n.1022-22G>T) n.609-22G>T c.*335-10735G>T (n.*335-10735G>T) c.902-22G>T (n.902-22G>T) c.776-22G>T (n.776-22G>T) n.647-22G>T c.926-22G>T (n.926-22G>T) | gnomAD v4 |
5 | g.137639172C>T | CA2675417619 | KLHL3 | c.1022-22G>A (n.1022-22G>A) n.609-22G>A c.*335-10735G>A (n.*335-10735G>A) c.902-22G>A (n.902-22G>A) c.776-22G>A (n.776-22G>A) n.647-22G>A c.926-22G>A (n.926-22G>A) | gnomAD v4 |
5 | g.137639175C= | CA1585497752 | KLHL3 | c.1022-25G= (n.1022-25G=) n.609-25G= c.*335-10738G= (n.*335-10738G=) c.902-25G= (n.902-25G=) c.776-25G= (n.776-25G=) n.647-25G= c.926-25G= (n.926-25G=) | |
5 | g.137639175C>G | CA804459787 | KLHL3 | c.1022-25G>C (n.1022-25G>C) n.609-25G>C c.*335-10738G>C (n.*335-10738G>C) c.902-25G>C (n.902-25G>C) c.776-25G>C (n.776-25G>C) n.647-25G>C c.926-25G>C (n.926-25G>C) | dbSNP gnomAD v4 |
5 | g.137639175C>T | CA563496614 | KLHL3 | c.1022-25G>A (n.1022-25G>A) n.609-25G>A c.*335-10738G>A (n.*335-10738G>A) c.902-25G>A (n.902-25G>A) c.776-25G>A (n.776-25G>A) n.647-25G>A c.926-25G>A (n.926-25G>A) | dbSNP gnomAD v2 |
5 | g.137639176A= | CA1585497755 | KLHL3 | c.1022-26T= (n.1022-26T=) n.609-26T= c.*335-10739T= (n.*335-10739T=) c.902-26T= (n.902-26T=) c.776-26T= (n.776-26T=) n.647-26T= c.926-26T= (n.926-26T=) | |
5 | g.137639176A>C | CA128104020 | KLHL3 | c.1022-26T>G (n.1022-26T>G) n.609-26T>G c.*335-10739T>G (n.*335-10739T>G) c.902-26T>G (n.902-26T>G) c.776-26T>G (n.776-26T>G) n.647-26T>G c.926-26T>G (n.926-26T>G) | dbSNP |
5 | g.137639178G>A | CA2675417620 | KLHL3 | c.1022-28C>T (n.1022-28C>T) n.609-28C>T c.*335-10741C>T (n.*335-10741C>T) c.902-28C>T (n.902-28C>T) c.776-28C>T (n.776-28C>T) n.647-28C>T c.926-28C>T (n.926-28C>T) | gnomAD v4 |
5 | g.137639178G>C | CA804459788 | KLHL3 | c.1022-28C>G (n.1022-28C>G) n.609-28C>G c.*335-10741C>G (n.*335-10741C>G) c.902-28C>G (n.902-28C>G) c.776-28C>G (n.776-28C>G) n.647-28C>G c.926-28C>G (n.926-28C>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.137639178G= | CA1585497757 | KLHL3 | c.1022-28C= (n.1022-28C=) n.609-28C= c.*335-10741C= (n.*335-10741C=) c.902-28C= (n.902-28C=) c.776-28C= (n.776-28C=) n.647-28C= c.926-28C= (n.926-28C=) | |
5 | g.137639181C>A | CA2675417621 | KLHL3 | c.1022-31G>T (n.1022-31G>T) n.609-31G>T c.*335-10744G>T (n.*335-10744G>T) c.902-31G>T (n.902-31G>T) c.776-31G>T (n.776-31G>T) n.647-31G>T c.926-31G>T (n.926-31G>T) | gnomAD v4 |
5 | g.137639181C= | CA1585497759 | KLHL3 | c.1022-31G= (n.1022-31G=) n.609-31G= c.*335-10744G= (n.*335-10744G=) c.902-31G= (n.902-31G=) c.776-31G= (n.776-31G=) n.647-31G= c.926-31G= (n.926-31G=) | |
5 | g.137639181C>G | CA3422307 | KLHL3 | c.1022-31G>C (n.1022-31G>C) n.609-31G>C c.*335-10744G>C (n.*335-10744G>C) c.902-31G>C (n.902-31G>C) c.776-31G>C (n.776-31G>C) n.647-31G>C c.926-31G>C (n.926-31G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.137639182A>T | CA2675417622 | KLHL3 | c.1022-32T>A (n.1022-32T>A) n.609-32T>A c.*335-10745T>A (n.*335-10745T>A) c.902-32T>A (n.902-32T>A) c.776-32T>A (n.776-32T>A) n.647-32T>A c.926-32T>A (n.926-32T>A) | gnomAD v4 |
5 | g.137639183G>A | CA3422308 | KLHL3 | c.1022-33C>T (n.1022-33C>T) n.609-33C>T c.*335-10746C>T (n.*335-10746C>T) c.902-33C>T (n.902-33C>T) c.776-33C>T (n.776-33C>T) n.647-33C>T c.926-33C>T (n.926-33C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.137639183G= | CA1585497762 | KLHL3 | c.1022-33C= (n.1022-33C=) n.609-33C= c.*335-10746C= (n.*335-10746C=) c.902-33C= (n.902-33C=) c.776-33C= (n.776-33C=) n.647-33C= c.926-33C= (n.926-33C=) |