| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.50086411T>A | CA413185183 | CLCN5 | c.1098T>A (p.Asn366Lys) c.348T>A (p.Asn116Lys) c.888T>A (p.Asn296Lys) c.1385T>A c.*273T>A (n.*273T>A) c.948T>A (p.Asn316Lys) c.1110T>A (p.Asn370Lys) | |
| X | g.50086411T>C | CA516678124 | CLCN5 | c.1098T>C (p.Asn366=) c.348T>C (p.Asn116=) c.888T>C (p.Asn296=) c.1385T>C c.*273T>C (n.*273T>C) c.948T>C (p.Asn316=) c.1110T>C (p.Asn370=) | |
| X | g.50086411T>G | CA413185184 | CLCN5 | c.1098T>G (p.Asn366Lys) c.348T>G (p.Asn116Lys) c.888T>G (p.Asn296Lys) c.1385T>G c.*273T>G (n.*273T>G) c.948T>G (p.Asn316Lys) c.1110T>G (p.Asn370Lys) | |
| X | g.50086412C>A | CA413185185 | CLCN5 | c.1099C>A (p.Pro367Thr) c.349C>A (p.Pro117Thr) c.889C>A (p.Pro297Thr) c.1386C>A c.*274C>A (n.*274C>A) c.949C>A (p.Pro317Thr) c.1111C>A (p.Pro371Thr) | |
| X | g.50086412C= | CA2428768866 | CLCN5 | c.1099C= (p.Pro367=) c.349C= (p.Pro117=) c.889C= (p.Pro297=) c.1386C= c.*274C= (n.*274C=) c.949C= (p.Pro317=) c.1111C= (p.Pro371=) | |
| X | g.50086412C>G | CA10413838 | CLCN5 | c.1099C>G (p.Pro367Ala) c.349C>G (p.Pro117Ala) c.889C>G (p.Pro297Ala) c.1386C>G c.*274C>G (n.*274C>G) c.949C>G (p.Pro317Ala) c.1111C>G (p.Pro371Ala) | dbSNP ExAC gnomAD v4 |
| X | g.50086412C>T | CA413185186 | CLCN5 | c.1099C>T (p.Pro367Ser) c.349C>T (p.Pro117Ser) c.889C>T (p.Pro297Ser) c.1386C>T c.*274C>T (n.*274C>T) c.949C>T (p.Pro317Ser) c.1111C>T (p.Pro371Ser) | |
| X | g.50086413C>A | CA413185189 | CLCN5 | c.1100C>A (p.Pro367Gln) c.350C>A (p.Pro117Gln) c.890C>A (p.Pro297Gln) c.1387C>A c.*275C>A (n.*275C>A) c.950C>A (p.Pro317Gln) c.1112C>A (p.Pro371Gln) | |
| X | g.50086413C>G | CA413185187 | CLCN5 | c.1100C>G (p.Pro367Arg) c.350C>G (p.Pro117Arg) c.890C>G (p.Pro297Arg) c.1387C>G c.*275C>G (n.*275C>G) c.950C>G (p.Pro317Arg) c.1112C>G (p.Pro371Arg) | |
| X | g.50086413C>T | CA413185188 | CLCN5 | c.1100C>T (p.Pro367Leu) c.350C>T (p.Pro117Leu) c.890C>T (p.Pro297Leu) c.1387C>T c.*275C>T (n.*275C>T) c.950C>T (p.Pro317Leu) c.1112C>T (p.Pro371Leu) | |
| X | g.50086414A>C | CA516678129 | CLCN5 | c.1101A>C (p.Pro367=) c.351A>C (p.Pro117=) c.891A>C (p.Pro297=) c.1388A>C c.*276A>C (n.*276A>C) c.951A>C (p.Pro317=) c.1113A>C (p.Pro371=) | |
| X | g.50086414A>G | CA516678130 | CLCN5 | c.1101A>G (p.Pro367=) c.351A>G (p.Pro117=) c.891A>G (p.Pro297=) c.1388A>G c.*276A>G (n.*276A>G) c.951A>G (p.Pro317=) c.1113A>G (p.Pro371=) | gnomAD v4 |
| X | g.50086414A>T | CA516678131 | CLCN5 | c.1101A>T (p.Pro367=) c.351A>T (p.Pro117=) c.891A>T (p.Pro297=) c.1388A>T c.*276A>T (n.*276A>T) c.951A>T (p.Pro317=) c.1113A>T (p.Pro371=) | |
| X | g.50086415T>A | CA413185190 | CLCN5 | c.1102T>A (p.Phe368Ile) c.352T>A (p.Phe118Ile) c.892T>A (p.Phe298Ile) c.1389T>A c.*277T>A (n.*277T>A) c.952T>A (p.Phe318Ile) c.1114T>A (p.Phe372Ile) | |
| X | g.50086415T>C | CA413185191 | CLCN5 | c.1102T>C (p.Phe368Leu) c.352T>C (p.Phe118Leu) c.892T>C (p.Phe298Leu) c.1389T>C c.*277T>C (n.*277T>C) c.952T>C (p.Phe318Leu) c.1114T>C (p.Phe372Leu) | |
| X | g.50086415T>G | CA413185192 | CLCN5 | c.1102T>G (p.Phe368Val) c.352T>G (p.Phe118Val) c.892T>G (p.Phe298Val) c.1389T>G c.*277T>G (n.*277T>G) c.952T>G (p.Phe318Val) c.1114T>G (p.Phe372Val) | |
| X | g.50086416T>A | CA413185193 | CLCN5 | c.1103T>A (p.Phe368Tyr) c.353T>A (p.Phe118Tyr) c.893T>A (p.Phe298Tyr) c.1390T>A c.*278T>A (n.*278T>A) c.953T>A (p.Phe318Tyr) c.1115T>A (p.Phe372Tyr) | |
| X | g.50086416T>C | CA10413839 | CLCN5 | c.1103T>C (p.Phe368Ser) c.353T>C (p.Phe118Ser) c.893T>C (p.Phe298Ser) c.1390T>C c.*278T>C (n.*278T>C) c.953T>C (p.Phe318Ser) c.1115T>C (p.Phe372Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086416T>G | CA413185194 | CLCN5 | c.1103T>G (p.Phe368Cys) c.353T>G (p.Phe118Cys) c.893T>G (p.Phe298Cys) c.1390T>G c.*278T>G (n.*278T>G) c.953T>G (p.Phe318Cys) c.1115T>G (p.Phe372Cys) | |
| X | g.50086416T= | CA2428768867 | CLCN5 | c.1103T= (p.Phe368=) c.353T= (p.Phe118=) c.893T= (p.Phe298=) c.1390T= c.*278T= (n.*278T=) c.953T= (p.Phe318=) c.1115T= (p.Phe372=) | |
| X | g.50086417T>A | CA413185195 | CLCN5 | c.1104T>A (p.Phe368Leu) c.354T>A (p.Phe118Leu) c.894T>A (p.Phe298Leu) c.1391T>A c.*279T>A (n.*279T>A) c.954T>A (p.Phe318Leu) c.1116T>A (p.Phe372Leu) | |
| X | g.50086417T>C | CA516678136 | CLCN5 | c.1104T>C (p.Phe368=) c.354T>C (p.Phe118=) c.894T>C (p.Phe298=) c.1391T>C c.*279T>C (n.*279T>C) c.954T>C (p.Phe318=) c.1116T>C (p.Phe372=) | |
| X | g.50086417T>G | CA413185196 | CLCN5 | c.1104T>G (p.Phe368Leu) c.354T>G (p.Phe118Leu) c.894T>G (p.Phe298Leu) c.1391T>G c.*279T>G (n.*279T>G) c.954T>G (p.Phe318Leu) c.1116T>G (p.Phe372Leu) | |
| X | g.50086418G>A | CA413185197 | CLCN5 | c.1105G>A (p.Gly369Arg) c.355G>A (p.Gly119Arg) c.895G>A (p.Gly299Arg) c.1392G>A c.*280G>A (n.*280G>A) c.955G>A (p.Gly319Arg) c.1117G>A (p.Gly373Arg) | |
| X | g.50086418G>C | CA413185199 | CLCN5 | c.1105G>C (p.Gly369Arg) c.355G>C (p.Gly119Arg) c.895G>C (p.Gly299Arg) c.1392G>C c.*280G>C (n.*280G>C) c.955G>C (p.Gly319Arg) c.1117G>C (p.Gly373Arg) | |
| X | g.50086418G>T | CA413185198 | CLCN5 | c.1105G>T (p.Gly369Trp) c.355G>T (p.Gly119Trp) c.895G>T (p.Gly299Trp) c.1392G>T c.*280G>T (n.*280G>T) c.955G>T (p.Gly319Trp) c.1117G>T (p.Gly373Trp) | |
| X | g.50086419G>A | CA413185200 | CLCN5 | c.1106G>A (p.Gly369Glu) c.356G>A (p.Gly119Glu) c.896G>A (p.Gly299Glu) c.1393G>A c.*281G>A (n.*281G>A) c.956G>A (p.Gly319Glu) c.1118G>A (p.Gly373Glu) | |
| X | g.50086419G>C | CA413185201 | CLCN5 | c.1106G>C (p.Gly369Ala) c.356G>C (p.Gly119Ala) c.896G>C (p.Gly299Ala) c.1393G>C c.*281G>C (n.*281G>C) c.956G>C (p.Gly319Ala) c.1118G>C (p.Gly373Ala) | |
| X | g.50086419G>T | CA413185202 | CLCN5 | c.1106G>T (p.Gly369Val) c.356G>T (p.Gly119Val) c.896G>T (p.Gly299Val) c.1393G>T c.*281G>T (n.*281G>T) c.956G>T (p.Gly319Val) c.1118G>T (p.Gly373Val) | |
| X | g.50086420G>A | CA516678139 | CLCN5 | c.1107G>A (p.Gly369=) c.357G>A (p.Gly119=) c.897G>A (p.Gly299=) c.1394G>A c.*282G>A (n.*282G>A) c.957G>A (p.Gly319=) c.1119G>A (p.Gly373=) | dbSNP |
| X | g.50086420G>C | CA516678140 | CLCN5 | c.1107G>C (p.Gly369=) c.357G>C (p.Gly119=) c.897G>C (p.Gly299=) c.1394G>C c.*282G>C (n.*282G>C) c.957G>C (p.Gly319=) c.1119G>C (p.Gly373=) | |
| X | g.50086420G= | CA2428768868 | CLCN5 | c.1107G= (p.Gly369=) c.357G= (p.Gly119=) c.897G= (p.Gly299=) c.1394G= c.*282G= (n.*282G=) c.957G= (p.Gly319=) c.1119G= (p.Gly373=) | |
| X | g.50086420G>T | CA516678141 | CLCN5 | c.1107G>T (p.Gly369=) c.357G>T (p.Gly119=) c.897G>T (p.Gly299=) c.1394G>T c.*282G>T (n.*282G>T) c.957G>T (p.Gly319=) c.1119G>T (p.Gly373=) | |
| X | g.50086421A>C | CA413185203 | CLCN5 | c.1108A>C (p.Asn370His) c.358A>C (p.Asn120His) c.898A>C (p.Asn300His) c.1395A>C c.*283A>C (n.*283A>C) c.958A>C (p.Asn320His) c.1120A>C (p.Asn374His) | |
| X | g.50086421A>G | CA413185204 | CLCN5 | c.1108A>G (p.Asn370Asp) c.358A>G (p.Asn120Asp) c.898A>G (p.Asn300Asp) c.1395A>G c.*283A>G (n.*283A>G) c.958A>G (p.Asn320Asp) c.1120A>G (p.Asn374Asp) | ClinVar dbSNP COSMIC COSMIC |
| X | g.50086421A>T | CA413185205 | CLCN5 | c.1108A>T (p.Asn370Tyr) c.358A>T (p.Asn120Tyr) c.898A>T (p.Asn300Tyr) c.1395A>T c.*283A>T (n.*283A>T) c.958A>T (p.Asn320Tyr) c.1120A>T (p.Asn374Tyr) | |
| X | g.50086422A>C | CA413185206 | CLCN5 | c.1109A>C (p.Asn370Thr) c.359A>C (p.Asn120Thr) c.899A>C (p.Asn300Thr) c.1396A>C c.*284A>C (n.*284A>C) c.959A>C (p.Asn320Thr) c.1121A>C (p.Asn374Thr) | |
| X | g.50086422A>G | CA413185207 | CLCN5 | c.1109A>G (p.Asn370Ser) c.359A>G (p.Asn120Ser) c.899A>G (p.Asn300Ser) c.1396A>G c.*284A>G (n.*284A>G) c.959A>G (p.Asn320Ser) c.1121A>G (p.Asn374Ser) | |
| X | g.50086422A>T | CA413185208 | CLCN5 | c.1109A>T (p.Asn370Ile) c.359A>T (p.Asn120Ile) c.899A>T (p.Asn300Ile) c.1396A>T c.*284A>T (n.*284A>T) c.959A>T (p.Asn320Ile) c.1121A>T (p.Asn374Ile) | |
| X | g.50086423C>A | CA413185209 | CLCN5 | c.1110C>A (p.Asn370Lys) c.360C>A (p.Asn120Lys) c.900C>A (p.Asn300Lys) c.1397C>A c.*285C>A (n.*285C>A) c.960C>A (p.Asn320Lys) c.1122C>A (p.Asn374Lys) | |
| X | g.50086423C>G | CA413185210 | CLCN5 | c.1110C>G (p.Asn370Lys) c.360C>G (p.Asn120Lys) c.900C>G (p.Asn300Lys) c.1397C>G c.*285C>G (n.*285C>G) c.960C>G (p.Asn320Lys) c.1122C>G (p.Asn374Lys) | |
| X | g.50086423C>T | CA516678146 | CLCN5 | c.1110C>T (p.Asn370=) c.360C>T (p.Asn120=) c.900C>T (p.Asn300=) c.1397C>T c.*285C>T (n.*285C>T) c.960C>T (p.Asn320=) c.1122C>T (p.Asn374=) | |
| X | g.50086424A>C | CA413185213 | CLCN5 | c.1111A>C (p.Ser371Arg) c.361A>C (p.Ser121Arg) c.901A>C (p.Ser301Arg) c.1398A>C c.*286A>C (n.*286A>C) c.961A>C (p.Ser321Arg) c.1123A>C (p.Ser375Arg) | |
| X | g.50086424A>G | CA413185212 | CLCN5 | c.1111A>G (p.Ser371Gly) c.361A>G (p.Ser121Gly) c.901A>G (p.Ser301Gly) c.1398A>G c.*286A>G (n.*286A>G) c.961A>G (p.Ser321Gly) c.1123A>G (p.Ser375Gly) | |
| X | g.50086424A>T | CA413185211 | CLCN5 | c.1111A>T (p.Ser371Cys) c.361A>T (p.Ser121Cys) c.901A>T (p.Ser301Cys) c.1398A>T c.*286A>T (n.*286A>T) c.961A>T (p.Ser321Cys) c.1123A>T (p.Ser375Cys) | gnomAD v4 |
| X | g.50086425G>A | CA413185214 | CLCN5 | c.1112G>A (p.Ser371Asn) c.362G>A (p.Ser121Asn) c.902G>A (p.Ser301Asn) c.1399G>A c.*287G>A (n.*287G>A) c.962G>A (p.Ser321Asn) c.1124G>A (p.Ser375Asn) | |
| X | g.50086425G>C | CA413185215 | CLCN5 | c.1112G>C (p.Ser371Thr) c.362G>C (p.Ser121Thr) c.902G>C (p.Ser301Thr) c.1399G>C c.*287G>C (n.*287G>C) c.962G>C (p.Ser321Thr) c.1124G>C (p.Ser375Thr) | |
| X | g.50086425G>T | CA413185216 | CLCN5 | c.1112G>T (p.Ser371Ile) c.362G>T (p.Ser121Ile) c.902G>T (p.Ser301Ile) c.1399G>T c.*287G>T (n.*287G>T) c.962G>T (p.Ser321Ile) c.1124G>T (p.Ser375Ile) | |
| X | g.50086426C>A | CA413185217 | CLCN5 | c.1113C>A (p.Ser371Arg) c.363C>A (p.Ser121Arg) c.903C>A (p.Ser301Arg) c.1400C>A c.*288C>A (n.*288C>A) c.963C>A (p.Ser321Arg) c.1125C>A (p.Ser375Arg) | |
| X | g.50086426C>G | CA413185218 | CLCN5 | c.1113C>G (p.Ser371Arg) c.363C>G (p.Ser121Arg) c.903C>G (p.Ser301Arg) c.1400C>G c.*288C>G (n.*288C>G) c.963C>G (p.Ser321Arg) c.1125C>G (p.Ser375Arg) | |
| X | g.50086426C>T | CA516678151 | CLCN5 | c.1113C>T (p.Ser371=) c.363C>T (p.Ser121=) c.903C>T (p.Ser301=) c.1400C>T c.*288C>T (n.*288C>T) c.963C>T (p.Ser321=) c.1125C>T (p.Ser375=) | |
| X | g.50086427C>A | CA413185219 | CLCN5 | c.1114C>A (p.Arg372Ser) c.364C>A (p.Arg122Ser) c.904C>A (p.Arg302Ser) c.1401C>A c.*289C>A (n.*289C>A) c.964C>A (p.Arg322Ser) c.1126C>A (p.Arg376Ser) | |
| X | g.50086427C= | CA2428768869 | CLCN5 | c.1114C= (p.Arg372=) c.364C= (p.Arg122=) c.904C= (p.Arg302=) c.1401C= c.*289C= (n.*289C=) c.964C= (p.Arg322=) c.1126C= (p.Arg376=) | |
| X | g.50086427C>G | CA413185220 | CLCN5 | c.1114C>G (p.Arg372Gly) c.364C>G (p.Arg122Gly) c.904C>G (p.Arg302Gly) c.1401C>G c.*289C>G (n.*289C>G) c.964C>G (p.Arg322Gly) c.1126C>G (p.Arg376Gly) | |
| X | g.50086427C>T | CA10413840 | CLCN5 | c.1114C>T (p.Arg372Cys) c.364C>T (p.Arg122Cys) c.904C>T (p.Arg302Cys) c.1401C>T c.*289C>T (n.*289C>T) c.964C>T (p.Arg322Cys) c.1126C>T (p.Arg376Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086428G>A | CA413185221 | CLCN5 | c.1115G>A (p.Arg372His) c.365G>A (p.Arg122His) c.905G>A (p.Arg302His) c.1402G>A c.*290G>A (n.*290G>A) c.965G>A (p.Arg322His) c.1127G>A (p.Arg376His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086428G>C | CA413185222 | CLCN5 | c.1115G>C (p.Arg372Pro) c.365G>C (p.Arg122Pro) c.905G>C (p.Arg302Pro) c.1402G>C c.*290G>C (n.*290G>C) c.965G>C (p.Arg322Pro) c.1127G>C (p.Arg376Pro) | |
| X | g.50086428G= | CA2428768870 | CLCN5 | c.1115G= (p.Arg372=) c.365G= (p.Arg122=) c.905G= (p.Arg302=) c.1402G= c.*290G= (n.*290G=) c.965G= (p.Arg322=) c.1127G= (p.Arg376=) | |
| X | g.50086428G>T | CA413185223 | CLCN5 | c.1115G>T (p.Arg372Leu) c.365G>T (p.Arg122Leu) c.905G>T (p.Arg302Leu) c.1402G>T c.*290G>T (n.*290G>T) c.965G>T (p.Arg322Leu) c.1127G>T (p.Arg376Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086429C>A | CA516678159 | CLCN5 | c.1116C>A (p.Arg372=) c.366C>A (p.Arg122=) c.906C>A (p.Arg302=) c.1403C>A c.*291C>A (n.*291C>A) c.966C>A (p.Arg322=) c.1128C>A (p.Arg376=) | |
| X | g.50086429C>G | CA516678161 | CLCN5 | c.1116C>G (p.Arg372=) c.366C>G (p.Arg122=) c.906C>G (p.Arg302=) c.1403C>G c.*291C>G (n.*291C>G) c.966C>G (p.Arg322=) c.1128C>G (p.Arg376=) | |
| X | g.50086429C>T | CA516678160 | CLCN5 | c.1116C>T (p.Arg372=) c.366C>T (p.Arg122=) c.906C>T (p.Arg302=) c.1403C>T c.*291C>T (n.*291C>T) c.966C>T (p.Arg322=) c.1128C>T (p.Arg376=) | |
| X | g.50086430C>A | CA413185224 | CLCN5 | c.1117C>A (p.Leu373Met) c.367C>A (p.Leu123Met) c.907C>A (p.Leu303Met) c.1404C>A c.*292C>A (n.*292C>A) c.967C>A (p.Leu323Met) c.1129C>A (p.Leu377Met) | |
| X | g.50086430C>G | CA413185225 | CLCN5 | c.1117C>G (p.Leu373Val) c.367C>G (p.Leu123Val) c.907C>G (p.Leu303Val) c.1404C>G c.*292C>G (n.*292C>G) c.967C>G (p.Leu323Val) c.1129C>G (p.Leu377Val) | |
| X | g.50086430C>T | CA516678163 | CLCN5 | c.1117C>T (p.Leu373=) c.367C>T (p.Leu123=) c.907C>T (p.Leu303=) c.1404C>T c.*292C>T (n.*292C>T) c.967C>T (p.Leu323=) c.1129C>T (p.Leu377=) | |
| X | g.50086431T>A | CA413185226 | CLCN5 | c.1118T>A (p.Leu373Gln) c.368T>A (p.Leu123Gln) c.908T>A (p.Leu303Gln) c.1405T>A c.*293T>A (n.*293T>A) c.968T>A (p.Leu323Gln) c.1130T>A (p.Leu377Gln) | |
| X | g.50086431T>C | CA413185228 | CLCN5 | c.1118T>C (p.Leu373Pro) c.368T>C (p.Leu123Pro) c.908T>C (p.Leu303Pro) c.1405T>C c.*293T>C (n.*293T>C) c.968T>C (p.Leu323Pro) c.1130T>C (p.Leu377Pro) | |
| X | g.50086431T>G | CA413185227 | CLCN5 | c.1118T>G (p.Leu373Arg) c.368T>G (p.Leu123Arg) c.908T>G (p.Leu303Arg) c.1405T>G c.*293T>G (n.*293T>G) c.968T>G (p.Leu323Arg) c.1130T>G (p.Leu377Arg) | |
| X | g.50086432G>A | CA516678169 | CLCN5 | c.1119G>A (p.Leu373=) c.369G>A (p.Leu123=) c.909G>A (p.Leu303=) c.1406G>A c.*294G>A (n.*294G>A) c.969G>A (p.Leu323=) c.1131G>A (p.Leu377=) | |
| X | g.50086432G>C | CA516678170 | CLCN5 | c.1119G>C (p.Leu373=) c.369G>C (p.Leu123=) c.909G>C (p.Leu303=) c.1406G>C c.*294G>C (n.*294G>C) c.969G>C (p.Leu323=) c.1131G>C (p.Leu377=) | |
| X | g.50086432G>T | CA516678172 | CLCN5 | c.1119G>T (p.Leu373=) c.369G>T (p.Leu123=) c.909G>T (p.Leu303=) c.1406G>T c.*294G>T (n.*294G>T) c.969G>T (p.Leu323=) c.1131G>T (p.Leu377=) | |
| X | g.50086433G>A | CA413185229 | CLCN5 | c.1120G>A (p.Val374Ile) c.370G>A (p.Val124Ile) c.910G>A (p.Val304Ile) c.1407G>A c.*295G>A (n.*295G>A) c.970G>A (p.Val324Ile) c.1132G>A (p.Val378Ile) | |
| X | g.50086433G>C | CA413185230 | CLCN5 | c.1120G>C (p.Val374Leu) c.370G>C (p.Val124Leu) c.910G>C (p.Val304Leu) c.1407G>C c.*295G>C (n.*295G>C) c.970G>C (p.Val324Leu) c.1132G>C (p.Val378Leu) | |
| X | g.50086433G>T | CA413185231 | CLCN5 | c.1120G>T (p.Val374Leu) c.370G>T (p.Val124Leu) c.910G>T (p.Val304Leu) c.1407G>T c.*295G>T (n.*295G>T) c.970G>T (p.Val324Leu) c.1132G>T (p.Val378Leu) | |
| X | g.50086434T>A | CA413185232 | CLCN5 | c.1121T>A (p.Val374Glu) c.371T>A (p.Val124Glu) c.911T>A (p.Val304Glu) c.1408T>A c.*296T>A (n.*296T>A) c.971T>A (p.Val324Glu) c.1133T>A (p.Val378Glu) | |
| X | g.50086434T>C | CA413185233 | CLCN5 | c.1121T>C (p.Val374Ala) c.371T>C (p.Val124Ala) c.911T>C (p.Val304Ala) c.1408T>C c.*296T>C (n.*296T>C) c.971T>C (p.Val324Ala) c.1133T>C (p.Val378Ala) | dbSNP gnomAD v4 |
| X | g.50086434T>G | CA413185234 | CLCN5 | c.1121T>G (p.Val374Gly) c.371T>G (p.Val124Gly) c.911T>G (p.Val304Gly) c.1408T>G c.*296T>G (n.*296T>G) c.971T>G (p.Val324Gly) c.1133T>G (p.Val378Gly) | |
| X | g.50086435A>C | CA516678177 | CLCN5 | c.1122A>C (p.Val374=) c.372A>C (p.Val124=) c.912A>C (p.Val304=) c.1409A>C c.*297A>C (n.*297A>C) c.972A>C (p.Val324=) c.1134A>C (p.Val378=) | |
| X | g.50086435A>G | CA516678175 | CLCN5 | c.1122A>G (p.Val374=) c.372A>G (p.Val124=) c.912A>G (p.Val304=) c.1409A>G c.*297A>G (n.*297A>G) c.972A>G (p.Val324=) c.1134A>G (p.Val378=) | |
| X | g.50086435A>T | CA516678180 | CLCN5 | c.1122A>T (p.Val374=) c.372A>T (p.Val124=) c.912A>T (p.Val304=) c.1409A>T c.*297A>T (n.*297A>T) c.972A>T (p.Val324=) c.1134A>T (p.Val378=) | |
| X | g.50086436C>A | CA413185235 | CLCN5 | c.1123C>A (p.Leu375Ile) c.373C>A (p.Leu125Ile) c.913C>A (p.Leu305Ile) c.1410C>A c.*298C>A (n.*298C>A) c.973C>A (p.Leu325Ile) c.1135C>A (p.Leu379Ile) | |
| X | g.50086436C>G | CA413185236 | CLCN5 | c.1123C>G (p.Leu375Val) c.373C>G (p.Leu125Val) c.913C>G (p.Leu305Val) c.1410C>G c.*298C>G (n.*298C>G) c.973C>G (p.Leu325Val) c.1135C>G (p.Leu379Val) | |
| X | g.50086436C>T | CA516678183 | CLCN5 | c.1123C>T (p.Leu375=) c.373C>T (p.Leu125=) c.913C>T (p.Leu305=) c.1410C>T c.*298C>T (n.*298C>T) c.973C>T (p.Leu325=) c.1135C>T (p.Leu379=) | |
| X | g.50086437T>A | CA413185237 | CLCN5 | c.1124T>A (p.Leu375Gln) c.374T>A (p.Leu125Gln) c.914T>A (p.Leu305Gln) c.1411T>A c.*299T>A (n.*299T>A) c.974T>A (p.Leu325Gln) c.1136T>A (p.Leu379Gln) | |
| X | g.50086437T>C | CA413185239 | CLCN5 | c.1124T>C (p.Leu375Pro) c.374T>C (p.Leu125Pro) c.914T>C (p.Leu305Pro) c.1411T>C c.*299T>C (n.*299T>C) c.974T>C (p.Leu325Pro) c.1136T>C (p.Leu379Pro) | |
| X | g.50086437T>G | CA413185238 | CLCN5 | c.1124T>G (p.Leu375Arg) c.374T>G (p.Leu125Arg) c.914T>G (p.Leu305Arg) c.1411T>G c.*299T>G (n.*299T>G) c.974T>G (p.Leu325Arg) c.1136T>G (p.Leu379Arg) | |
| X | g.50086438A= | CA2428768871 | CLCN5 | c.1125A= (p.Leu375=) c.375A= (p.Leu125=) c.915A= (p.Leu305=) c.1412A= c.*300A= (n.*300A=) c.975A= (p.Leu325=) c.1137A= (p.Leu379=) | |
| X | g.50086438A>C | CA516678187 | CLCN5 | c.1125A>C (p.Leu375=) c.375A>C (p.Leu125=) c.915A>C (p.Leu305=) c.1412A>C c.*300A>C (n.*300A>C) c.975A>C (p.Leu325=) c.1137A>C (p.Leu379=) | |
| X | g.50086438A>G | CA10413841 | CLCN5 | c.1125A>G (p.Leu375=) c.375A>G (p.Leu125=) c.915A>G (p.Leu305=) c.1412A>G c.*300A>G (n.*300A>G) c.975A>G (p.Leu325=) c.1137A>G (p.Leu379=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086438A>T | CA516678186 | CLCN5 | c.1125A>T (p.Leu375=) c.375A>T (p.Leu125=) c.915A>T (p.Leu305=) c.1412A>T c.*300A>T (n.*300A>T) c.975A>T (p.Leu325=) c.1137A>T (p.Leu379=) | |
| X | g.50086439T>A | CA413185240 | CLCN5 | c.1126T>A (p.Phe376Ile) c.376T>A (p.Phe126Ile) c.916T>A (p.Phe306Ile) c.1413T>A c.*301T>A (n.*301T>A) c.976T>A (p.Phe326Ile) c.1138T>A (p.Phe380Ile) | |
| X | g.50086439T>C | CA413185241 | CLCN5 | c.1126T>C (p.Phe376Leu) c.376T>C (p.Phe126Leu) c.916T>C (p.Phe306Leu) c.1413T>C c.*301T>C (n.*301T>C) c.976T>C (p.Phe326Leu) c.1138T>C (p.Phe380Leu) | |
| X | g.50086439T>G | CA413185242 | CLCN5 | c.1126T>G (p.Phe376Val) c.376T>G (p.Phe126Val) c.916T>G (p.Phe306Val) c.1413T>G c.*301T>G (n.*301T>G) c.976T>G (p.Phe326Val) c.1138T>G (p.Phe380Val) | |
| X | g.50086440T>A | CA413185245 | CLCN5 | c.1127T>A (p.Phe376Tyr) c.377T>A (p.Phe126Tyr) c.917T>A (p.Phe306Tyr) c.1414T>A c.*302T>A (n.*302T>A) c.977T>A (p.Phe326Tyr) c.1139T>A (p.Phe380Tyr) | |
| X | g.50086440T>C | CA413185243 | CLCN5 | c.1127T>C (p.Phe376Ser) c.377T>C (p.Phe126Ser) c.917T>C (p.Phe306Ser) c.1414T>C c.*302T>C (n.*302T>C) c.977T>C (p.Phe326Ser) c.1139T>C (p.Phe380Ser) | |
| X | g.50086440T>G | CA413185244 | CLCN5 | c.1127T>G (p.Phe376Cys) c.377T>G (p.Phe126Cys) c.917T>G (p.Phe306Cys) c.1414T>G c.*302T>G (n.*302T>G) c.977T>G (p.Phe326Cys) c.1139T>G (p.Phe380Cys) | |
| X | g.50086441T>A | CA413185246 | CLCN5 | c.1128T>A (p.Phe376Leu) c.378T>A (p.Phe126Leu) c.918T>A (p.Phe306Leu) c.1415T>A c.*303T>A (n.*303T>A) c.978T>A (p.Phe326Leu) c.1140T>A (p.Phe380Leu) | |
| X | g.50086441T>C | CA516678200 | CLCN5 | c.1128T>C (p.Phe376=) c.378T>C (p.Phe126=) c.918T>C (p.Phe306=) c.1415T>C c.*303T>C (n.*303T>C) c.978T>C (p.Phe326=) c.1140T>C (p.Phe380=) | |
| X | g.50086441T>G | CA413185247 | CLCN5 | c.1128T>G (p.Phe376Leu) c.378T>G (p.Phe126Leu) c.918T>G (p.Phe306Leu) c.1415T>G c.*303T>G (n.*303T>G) c.978T>G (p.Phe326Leu) c.1140T>G (p.Phe380Leu) | |
| X | g.50086442T>A | CA413185248 | CLCN5 | c.1129T>A (p.Tyr377Asn) c.379T>A (p.Tyr127Asn) c.919T>A (p.Tyr307Asn) c.1416T>A c.*304T>A (n.*304T>A) c.979T>A (p.Tyr327Asn) c.1141T>A (p.Tyr381Asn) | |
| X | g.50086442T>C | CA413185249 | CLCN5 | c.1129T>C (p.Tyr377His) c.379T>C (p.Tyr127His) c.919T>C (p.Tyr307His) c.1416T>C c.*304T>C (n.*304T>C) c.979T>C (p.Tyr327His) c.1141T>C (p.Tyr381His) | |
| X | g.50086442T>G | CA413185250 | CLCN5 | c.1129T>G (p.Tyr377Asp) c.379T>G (p.Tyr127Asp) c.919T>G (p.Tyr307Asp) c.1416T>G c.*304T>G (n.*304T>G) c.979T>G (p.Tyr327Asp) c.1141T>G (p.Tyr381Asp) | |
| X | g.50086443A= | CA2428768872 | CLCN5 | c.1130A= (p.Tyr377=) c.380A= (p.Tyr127=) c.920A= (p.Tyr307=) c.1417A= c.*305A= (n.*305A=) c.980A= (p.Tyr327=) c.1142A= (p.Tyr381=) | |
| X | g.50086443A>C | CA413185251 | CLCN5 | c.1130A>C (p.Tyr377Ser) c.380A>C (p.Tyr127Ser) c.920A>C (p.Tyr307Ser) c.1417A>C c.*305A>C (n.*305A>C) c.980A>C (p.Tyr327Ser) c.1142A>C (p.Tyr381Ser) | |
| X | g.50086443A>G | CA413185252 | CLCN5 | c.1130A>G (p.Tyr377Cys) c.380A>G (p.Tyr127Cys) c.920A>G (p.Tyr307Cys) c.1417A>G c.*305A>G (n.*305A>G) c.980A>G (p.Tyr327Cys) c.1142A>G (p.Tyr381Cys) | |
| X | g.50086443A>T | CA413185253 | CLCN5 | c.1130A>T (p.Tyr377Phe) c.380A>T (p.Tyr127Phe) c.920A>T (p.Tyr307Phe) c.1417A>T c.*305A>T (n.*305A>T) c.980A>T (p.Tyr327Phe) c.1142A>T (p.Tyr381Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086444del | CA2739273518 | CLCN5 | c.1131del (p.Tyr377Ter) c.381del (p.Tyr127Ter) c.921del (p.Tyr307Ter) c.1418del c.*306del (n.*306del) c.981del (p.Tyr327Ter) c.1143del (p.Tyr381Ter) | ClinVar |
| X | g.50086444T>A | CA413185254 | CLCN5 | c.1131T>A (p.Tyr377Ter) c.381T>A (p.Tyr127Ter) c.921T>A (p.Tyr307Ter) c.1418T>A c.*306T>A (n.*306T>A) c.981T>A (p.Tyr327Ter) c.1143T>A (p.Tyr381Ter) | |
| X | g.50086444T>C | CA516678219 | CLCN5 | c.1131T>C (p.Tyr377=) c.381T>C (p.Tyr127=) c.921T>C (p.Tyr307=) c.1418T>C c.*306T>C (n.*306T>C) c.981T>C (p.Tyr327=) c.1143T>C (p.Tyr381=) | gnomAD v4 |
| X | g.50086444T>G | CA413185255 | CLCN5 | c.1131T>G (p.Tyr377Ter) c.381T>G (p.Tyr127Ter) c.921T>G (p.Tyr307Ter) c.1418T>G c.*306T>G (n.*306T>G) c.981T>G (p.Tyr327Ter) c.1143T>G (p.Tyr381Ter) | |
| X | g.50086445G>A | CA413185256 | CLCN5 | c.1132G>A (p.Val378Met) c.382G>A (p.Val128Met) c.922G>A (p.Val308Met) c.1419G>A c.*307G>A (n.*307G>A) c.982G>A (p.Val328Met) c.1144G>A (p.Val382Met) | |
| X | g.50086445G>C | CA413185257 | CLCN5 | c.1132G>C (p.Val378Leu) c.382G>C (p.Val128Leu) c.922G>C (p.Val308Leu) c.1419G>C c.*307G>C (n.*307G>C) c.982G>C (p.Val328Leu) c.1144G>C (p.Val382Leu) | |
| X | g.50086445G>T | CA413185258 | CLCN5 | c.1132G>T (p.Val378Leu) c.382G>T (p.Val128Leu) c.922G>T (p.Val308Leu) c.1419G>T c.*307G>T (n.*307G>T) c.982G>T (p.Val328Leu) c.1144G>T (p.Val382Leu) | |
| X | g.50086446T>A | CA413185259 | CLCN5 | c.1133T>A (p.Val378Glu) c.383T>A (p.Val128Glu) c.923T>A (p.Val308Glu) c.1420T>A c.*308T>A (n.*308T>A) c.983T>A (p.Val328Glu) c.1145T>A (p.Val382Glu) | |
| X | g.50086446T>C | CA413185261 | CLCN5 | c.1133T>C (p.Val378Ala) c.383T>C (p.Val128Ala) c.923T>C (p.Val308Ala) c.1420T>C c.*308T>C (n.*308T>C) c.983T>C (p.Val328Ala) c.1145T>C (p.Val382Ala) | gnomAD v4 |
| X | g.50086446T>G | CA413185260 | CLCN5 | c.1133T>G (p.Val378Gly) c.383T>G (p.Val128Gly) c.923T>G (p.Val308Gly) c.1420T>G c.*308T>G (n.*308T>G) c.983T>G (p.Val328Gly) c.1145T>G (p.Val382Gly) | |
| X | g.50086447G>A | CA516678231 | CLCN5 | c.1134G>A (p.Val378=) c.384G>A (p.Val128=) c.924G>A (p.Val308=) c.1421G>A c.*309G>A (n.*309G>A) c.984G>A (p.Val328=) c.1146G>A (p.Val382=) | |
| X | g.50086447G>C | CA516678232 | CLCN5 | c.1134G>C (p.Val378=) c.384G>C (p.Val128=) c.924G>C (p.Val308=) c.1421G>C c.*309G>C (n.*309G>C) c.984G>C (p.Val328=) c.1146G>C (p.Val382=) | |
| X | g.50086447G>T | CA516678233 | CLCN5 | c.1134G>T (p.Val378=) c.384G>T (p.Val128=) c.924G>T (p.Val308=) c.1421G>T c.*309G>T (n.*309G>T) c.984G>T (p.Val328=) c.1146G>T (p.Val382=) | |
| X | g.50086448G>A | CA413185262 | CLCN5 | c.1135G>A (p.Glu379Lys) c.385G>A (p.Glu129Lys) c.925G>A (p.Glu309Lys) c.1422G>A c.*310G>A (n.*310G>A) c.985G>A (p.Glu329Lys) c.1147G>A (p.Glu383Lys) | |
| X | g.50086448G>C | CA413185263 | CLCN5 | c.1135G>C (p.Glu379Gln) c.385G>C (p.Glu129Gln) c.925G>C (p.Glu309Gln) c.1422G>C c.*310G>C (n.*310G>C) c.985G>C (p.Glu329Gln) c.1147G>C (p.Glu383Gln) | |
| X | g.50086448G>T | CA413185264 | CLCN5 | c.1135G>T (p.Glu379Ter) c.385G>T (p.Glu129Ter) c.925G>T (p.Glu309Ter) c.1422G>T c.*310G>T (n.*310G>T) c.985G>T (p.Glu329Ter) c.1147G>T (p.Glu383Ter) | |
| X | g.50086449A>C | CA413185265 | CLCN5 | c.1136A>C (p.Glu379Ala) c.386A>C (p.Glu129Ala) c.926A>C (p.Glu309Ala) c.1423A>C c.*311A>C (n.*311A>C) c.986A>C (p.Glu329Ala) c.1148A>C (p.Glu383Ala) | gnomAD v4 |
| X | g.50086449A>G | CA413185266 | CLCN5 | c.1136A>G (p.Glu379Gly) c.386A>G (p.Glu129Gly) c.926A>G (p.Glu309Gly) c.1423A>G c.*311A>G (n.*311A>G) c.986A>G (p.Glu329Gly) c.1148A>G (p.Glu383Gly) | |
| X | g.50086449A>T | CA413185267 | CLCN5 | c.1136A>T (p.Glu379Val) c.386A>T (p.Glu129Val) c.926A>T (p.Glu309Val) c.1423A>T c.*311A>T (n.*311A>T) c.986A>T (p.Glu329Val) c.1148A>T (p.Glu383Val) | |
| X | g.50086450G>A | CA516678235 | CLCN5 | c.1137G>A (p.Glu379=) c.387G>A (p.Glu129=) c.927G>A (p.Glu309=) c.1424G>A c.*312G>A (n.*312G>A) c.987G>A (p.Glu329=) c.1149G>A (p.Glu383=) | gnomAD v4 |
| X | g.50086450G>C | CA413185268 | CLCN5 | c.1137G>C (p.Glu379Asp) c.387G>C (p.Glu129Asp) c.927G>C (p.Glu309Asp) c.1424G>C c.*312G>C (n.*312G>C) c.987G>C (p.Glu329Asp) c.1149G>C (p.Glu383Asp) | |
| X | g.50086450G= | CA2428768873 | CLCN5 | c.1137G= (p.Glu379=) c.387G= (p.Glu129=) c.927G= (p.Glu309=) c.1424G= c.*312G= (n.*312G=) c.987G= (p.Glu329=) c.1149G= (p.Glu383=) | |
| X | g.50086450G>T | CA10413842 | CLCN5 | c.1137G>T (p.Glu379Asp) c.387G>T (p.Glu129Asp) c.927G>T (p.Glu309Asp) c.1424G>T c.*312G>T (n.*312G>T) c.987G>T (p.Glu329Asp) c.1149G>T (p.Glu383Asp) | dbSNP ExAC gnomAD v2 |
| X | g.50086451T>A | CA413185269 | CLCN5 | c.1138T>A (p.Phe380Ile) c.388T>A (p.Phe130Ile) c.928T>A (p.Phe310Ile) c.1425T>A c.*313T>A (n.*313T>A) c.988T>A (p.Phe330Ile) c.1150T>A (p.Phe384Ile) | |
| X | g.50086451T>C | CA413185270 | CLCN5 | c.1138T>C (p.Phe380Leu) c.388T>C (p.Phe130Leu) c.928T>C (p.Phe310Leu) c.1425T>C c.*313T>C (n.*313T>C) c.988T>C (p.Phe330Leu) c.1150T>C (p.Phe384Leu) | |
| X | g.50086451T>G | CA413185271 | CLCN5 | c.1138T>G (p.Phe380Val) c.388T>G (p.Phe130Val) c.928T>G (p.Phe310Val) c.1425T>G c.*313T>G (n.*313T>G) c.988T>G (p.Phe330Val) c.1150T>G (p.Phe384Val) | |
| X | g.50086452T>A | CA413185272 | CLCN5 | c.1139T>A (p.Phe380Tyr) c.389T>A (p.Phe130Tyr) c.929T>A (p.Phe310Tyr) c.1426T>A c.*314T>A (n.*314T>A) c.989T>A (p.Phe330Tyr) c.1151T>A (p.Phe384Tyr) | ClinVar dbSNP |
| X | g.50086452T>C | CA413185273 | CLCN5 | c.1139T>C (p.Phe380Ser) c.389T>C (p.Phe130Ser) c.929T>C (p.Phe310Ser) c.1426T>C c.*314T>C (n.*314T>C) c.989T>C (p.Phe330Ser) c.1151T>C (p.Phe384Ser) | |
| X | g.50086452T>G | CA413185274 | CLCN5 | c.1139T>G (p.Phe380Cys) c.389T>G (p.Phe130Cys) c.929T>G (p.Phe310Cys) c.1426T>G c.*314T>G (n.*314T>G) c.989T>G (p.Phe330Cys) c.1151T>G (p.Phe384Cys) | |
| X | g.50086452T= | CA2428768874 | CLCN5 | c.1139T= (p.Phe380=) c.389T= (p.Phe130=) c.929T= (p.Phe310=) c.1426T= c.*314T= (n.*314T=) c.989T= (p.Phe330=) c.1151T= (p.Phe384=) | |
| X | g.50086453T>A | CA413185275 | CLCN5 | c.1140T>A (p.Phe380Leu) c.390T>A (p.Phe130Leu) c.930T>A (p.Phe310Leu) c.1427T>A c.*315T>A (n.*315T>A) c.990T>A (p.Phe330Leu) c.1152T>A (p.Phe384Leu) | |
| X | g.50086453T>C | CA516678246 | CLCN5 | c.1140T>C (p.Phe380=) c.390T>C (p.Phe130=) c.930T>C (p.Phe310=) c.1427T>C c.*315T>C (n.*315T>C) c.990T>C (p.Phe330=) c.1152T>C (p.Phe384=) | |
| X | g.50086453T>G | CA413185276 | CLCN5 | c.1140T>G (p.Phe380Leu) c.390T>G (p.Phe130Leu) c.930T>G (p.Phe310Leu) c.1427T>G c.*315T>G (n.*315T>G) c.990T>G (p.Phe330Leu) c.1152T>G (p.Phe384Leu) | |
| X | g.50086453_50086454delinsA | CA2695233680 | CLCN5 | c.1140_1141delinsA (p.Phe380LeufsTer?) c.390_391delinsA (p.Phe130LeufsTer?) c.930_931delinsA (p.Phe310LeufsTer?) c.1427_1428delinsA c.*315_*316delinsA (n.*315_*316delinsA) c.990_991delinsA (p.Phe330LeufsTer?) c.1152_1153delinsA (p.Phe384LeufsTer?) | |
| X | g.50086454C>A | CA413185277 | CLCN5 | c.1141C>A (p.His381Asn) c.391C>A (p.His131Asn) c.931C>A (p.His311Asn) c.1428C>A c.*316C>A (n.*316C>A) c.991C>A (p.His331Asn) c.1153C>A (p.His385Asn) | |
| X | g.50086454C= | CA2428768875 | CLCN5 | c.1141C= (p.His381=) c.391C= (p.His131=) c.931C= (p.His311=) c.1428C= c.*316C= (n.*316C=) c.991C= (p.His331=) c.1153C= (p.His385=) | |
| X | g.50086454C>G | CA413185278 | CLCN5 | c.1141C>G (p.His381Asp) c.391C>G (p.His131Asp) c.931C>G (p.His311Asp) c.1428C>G c.*316C>G (n.*316C>G) c.991C>G (p.His331Asp) c.1153C>G (p.His385Asp) | |
| X | g.50086454C>T | CA329782442 | CLCN5 | c.1141C>T (p.His381Tyr) c.391C>T (p.His131Tyr) c.931C>T (p.His311Tyr) c.1428C>T c.*316C>T (n.*316C>T) c.991C>T (p.His331Tyr) c.1153C>T (p.His385Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086455del | CA645611540 | CLCN5 | c.1142del (p.His381ProfsTer?) c.392del (p.His131ProfsTer?) c.932del (p.His311ProfsTer?) c.1429del c.*317del (n.*317del) c.992del (p.His331ProfsTer?) c.1154del (p.His385ProfsTer?) | COSMIC COSMIC |
| X | g.50086455A>C | CA413185279 | CLCN5 | c.1142A>C (p.His381Pro) c.392A>C (p.His131Pro) c.932A>C (p.His311Pro) c.1429A>C c.*317A>C (n.*317A>C) c.992A>C (p.His331Pro) c.1154A>C (p.His385Pro) | |
| X | g.50086455A>G | CA413185280 | CLCN5 | c.1142A>G (p.His381Arg) c.392A>G (p.His131Arg) c.932A>G (p.His311Arg) c.1429A>G c.*317A>G (n.*317A>G) c.992A>G (p.His331Arg) c.1154A>G (p.His385Arg) | |
| X | g.50086455A>T | CA413185281 | CLCN5 | c.1142A>T (p.His381Leu) c.392A>T (p.His131Leu) c.932A>T (p.His311Leu) c.1429A>T c.*317A>T (n.*317A>T) c.992A>T (p.His331Leu) c.1154A>T (p.His385Leu) | |
| X | g.50086456C>A | CA413185282 | CLCN5 | c.1143C>A (p.His381Gln) c.393C>A (p.His131Gln) c.933C>A (p.His311Gln) c.1430C>A c.*318C>A (n.*318C>A) c.993C>A (p.His331Gln) c.1155C>A (p.His385Gln) | |
| X | g.50086456C>G | CA413185283 | CLCN5 | c.1143C>G (p.His381Gln) c.393C>G (p.His131Gln) c.933C>G (p.His311Gln) c.1430C>G c.*318C>G (n.*318C>G) c.993C>G (p.His331Gln) c.1155C>G (p.His385Gln) | |
| X | g.50086456C>T | CA516678252 | CLCN5 | c.1143C>T (p.His381=) c.393C>T (p.His131=) c.933C>T (p.His311=) c.1430C>T c.*318C>T (n.*318C>T) c.993C>T (p.His331=) c.1155C>T (p.His385=) | |
| X | g.50086457A>C | CA413185284 | CLCN5 | c.1144A>C (p.Thr382Pro) c.394A>C (p.Thr132Pro) c.934A>C (p.Thr312Pro) c.1431A>C c.*319A>C (n.*319A>C) c.994A>C (p.Thr332Pro) c.1156A>C (p.Thr386Pro) | |
| X | g.50086457A>G | CA413185285 | CLCN5 | c.1144A>G (p.Thr382Ala) c.394A>G (p.Thr132Ala) c.934A>G (p.Thr312Ala) c.1431A>G c.*319A>G (n.*319A>G) c.994A>G (p.Thr332Ala) c.1156A>G (p.Thr386Ala) | |
| X | g.50086457A>T | CA413185286 | CLCN5 | c.1144A>T (p.Thr382Ser) c.394A>T (p.Thr132Ser) c.934A>T (p.Thr312Ser) c.1431A>T c.*319A>T (n.*319A>T) c.994A>T (p.Thr332Ser) c.1156A>T (p.Thr386Ser) | |
| X | g.50086458C>A | CA413185287 | CLCN5 | c.1145C>A (p.Thr382Asn) c.395C>A (p.Thr132Asn) c.935C>A (p.Thr312Asn) c.1432C>A c.*320C>A (n.*320C>A) c.995C>A (p.Thr332Asn) c.1157C>A (p.Thr386Asn) | ClinVar |
| X | g.50086458C>G | CA413185289 | CLCN5 | c.1145C>G (p.Thr382Ser) c.395C>G (p.Thr132Ser) c.935C>G (p.Thr312Ser) c.1432C>G c.*320C>G (n.*320C>G) c.995C>G (p.Thr332Ser) c.1157C>G (p.Thr386Ser) | |
| X | g.50086458C>T | CA413185288 | CLCN5 | c.1145C>T (p.Thr382Ile) c.395C>T (p.Thr132Ile) c.935C>T (p.Thr312Ile) c.1432C>T c.*320C>T (n.*320C>T) c.995C>T (p.Thr332Ile) c.1157C>T (p.Thr386Ile) | |
| X | g.50086461del | CA2695233681 | CLCN5 | c.1148del (p.Pro383HisfsTer?) c.398del (p.Pro133HisfsTer?) c.938del (p.Pro313HisfsTer?) c.1435del c.*323del (n.*323del) c.998del (p.Pro333HisfsTer?) c.1160del (p.Pro387HisfsTer?) | |
| X | g.50086459C>A | CA516678260 | CLCN5 | c.1146C>A (p.Thr382=) c.396C>A (p.Thr132=) c.936C>A (p.Thr312=) c.1433C>A c.*321C>A (n.*321C>A) c.996C>A (p.Thr332=) c.1158C>A (p.Thr386=) | |
| X | g.50086459C>G | CA516678261 | CLCN5 | c.1146C>G (p.Thr382=) c.396C>G (p.Thr132=) c.936C>G (p.Thr312=) c.1433C>G c.*321C>G (n.*321C>G) c.996C>G (p.Thr332=) c.1158C>G (p.Thr386=) | |
| X | g.50086459C>T | CA516678262 | CLCN5 | c.1146C>T (p.Thr382=) c.396C>T (p.Thr132=) c.936C>T (p.Thr312=) c.1433C>T c.*321C>T (n.*321C>T) c.996C>T (p.Thr332=) c.1158C>T (p.Thr386=) | |
| X | g.50086460C>A | CA413185290 | CLCN5 | c.1147C>A (p.Pro383Thr) c.397C>A (p.Pro133Thr) c.937C>A (p.Pro313Thr) c.1434C>A c.*322C>A (n.*322C>A) c.997C>A (p.Pro333Thr) c.1159C>A (p.Pro387Thr) | |
| X | g.50086460C>G | CA413185292 | CLCN5 | c.1147C>G (p.Pro383Ala) c.397C>G (p.Pro133Ala) c.937C>G (p.Pro313Ala) c.1434C>G c.*322C>G (n.*322C>G) c.997C>G (p.Pro333Ala) c.1159C>G (p.Pro387Ala) | gnomAD v4 |
| X | g.50086460C>T | CA413185291 | CLCN5 | c.1147C>T (p.Pro383Ser) c.397C>T (p.Pro133Ser) c.937C>T (p.Pro313Ser) c.1434C>T c.*322C>T (n.*322C>T) c.997C>T (p.Pro333Ser) c.1159C>T (p.Pro387Ser) | |
| X | g.50086461C>A | CA413185293 | CLCN5 | c.1148C>A (p.Pro383Gln) c.398C>A (p.Pro133Gln) c.938C>A (p.Pro313Gln) c.1435C>A c.*323C>A (n.*323C>A) c.998C>A (p.Pro333Gln) c.1160C>A (p.Pro387Gln) | |
| X | g.50086461C>G | CA413185294 | CLCN5 | c.1148C>G (p.Pro383Arg) c.398C>G (p.Pro133Arg) c.938C>G (p.Pro313Arg) c.1435C>G c.*323C>G (n.*323C>G) c.998C>G (p.Pro333Arg) c.1160C>G (p.Pro387Arg) | |
| X | g.50086461C>T | CA413185295 | CLCN5 | c.1148C>T (p.Pro383Leu) c.398C>T (p.Pro133Leu) c.938C>T (p.Pro313Leu) c.1435C>T c.*323C>T (n.*323C>T) c.998C>T (p.Pro333Leu) c.1160C>T (p.Pro387Leu) | gnomAD v4 |
| X | g.50086462A>C | CA516678268 | CLCN5 | c.1149A>C (p.Pro383=) c.399A>C (p.Pro133=) c.939A>C (p.Pro313=) c.1436A>C c.*324A>C (n.*324A>C) c.999A>C (p.Pro333=) c.1161A>C (p.Pro387=) | |
| X | g.50086462A>G | CA516678267 | CLCN5 | c.1149A>G (p.Pro383=) c.399A>G (p.Pro133=) c.939A>G (p.Pro313=) c.1436A>G c.*324A>G (n.*324A>G) c.999A>G (p.Pro333=) c.1161A>G (p.Pro387=) | |
| X | g.50086462A>T | CA516678266 | CLCN5 | c.1149A>T (p.Pro383=) c.399A>T (p.Pro133=) c.939A>T (p.Pro313=) c.1436A>T c.*324A>T (n.*324A>T) c.999A>T (p.Pro333=) c.1161A>T (p.Pro387=) | |
| X | g.50086463T>A | CA413185296 | CLCN5 | c.1150T>A (p.Trp384Arg) c.400T>A (p.Trp134Arg) c.940T>A (p.Trp314Arg) c.1437T>A c.*325T>A (n.*325T>A) c.1000T>A (p.Trp334Arg) c.1162T>A (p.Trp388Arg) | |
| X | g.50086463T>C | CA413185297 | CLCN5 | c.1150T>C (p.Trp384Arg) c.400T>C (p.Trp134Arg) c.940T>C (p.Trp314Arg) c.1437T>C c.*325T>C (n.*325T>C) c.1000T>C (p.Trp334Arg) c.1162T>C (p.Trp388Arg) | ClinVar |
| X | g.50086463T>G | CA413185298 | CLCN5 | c.1150T>G (p.Trp384Gly) c.400T>G (p.Trp134Gly) c.940T>G (p.Trp314Gly) c.1437T>G c.*325T>G (n.*325T>G) c.1000T>G (p.Trp334Gly) c.1162T>G (p.Trp388Gly) | |
| X | g.50086464G>A | CA413185301 | CLCN5 | c.1151G>A (p.Trp384Ter) c.401G>A (p.Trp134Ter) c.941G>A (p.Trp314Ter) c.1438G>A c.*326G>A (n.*326G>A) c.1001G>A (p.Trp334Ter) c.1163G>A (p.Trp388Ter) | |
| X | g.50086464G>C | CA413185300 | CLCN5 | c.1151G>C (p.Trp384Ser) c.401G>C (p.Trp134Ser) c.941G>C (p.Trp314Ser) c.1438G>C c.*326G>C (n.*326G>C) c.1001G>C (p.Trp334Ser) c.1163G>C (p.Trp388Ser) | |
| X | g.50086464G>T | CA413185299 | CLCN5 | c.1151G>T (p.Trp384Leu) c.401G>T (p.Trp134Leu) c.941G>T (p.Trp314Leu) c.1438G>T c.*326G>T (n.*326G>T) c.1001G>T (p.Trp334Leu) c.1163G>T (p.Trp388Leu) | |
| X | g.50086465G>A | CA10413843 | CLCN5 | c.1152G>A (p.Trp384Ter) c.402G>A (p.Trp134Ter) c.942G>A (p.Trp314Ter) c.1439G>A c.*327G>A (n.*327G>A) c.1002G>A (p.Trp334Ter) c.1164G>A (p.Trp388Ter) | dbSNP ExAC gnomAD v2 |
| X | g.50086465G>C | CA413185302 | CLCN5 | c.1152G>C (p.Trp384Cys) c.402G>C (p.Trp134Cys) c.942G>C (p.Trp314Cys) c.1439G>C c.*327G>C (n.*327G>C) c.1002G>C (p.Trp334Cys) c.1164G>C (p.Trp388Cys) | |
| X | g.50086465G= | CA2428768876 | CLCN5 | c.1152G= (p.Trp384=) c.402G= (p.Trp134=) c.942G= (p.Trp314=) c.1439G= c.*327G= (n.*327G=) c.1002G= (p.Trp334=) c.1164G= (p.Trp388=) | |
| X | g.50086465G>T | CA413185303 | CLCN5 | c.1152G>T (p.Trp384Cys) c.402G>T (p.Trp134Cys) c.942G>T (p.Trp314Cys) c.1439G>T c.*327G>T (n.*327G>T) c.1002G>T (p.Trp334Cys) c.1164G>T (p.Trp388Cys) | |
| X | g.50086466C>A | CA413185304 | CLCN5 | c.1153C>A (p.His385Asn) c.403C>A (p.His135Asn) c.943C>A (p.His315Asn) c.1440C>A c.*328C>A (n.*328C>A) c.1003C>A (p.His335Asn) c.1165C>A (p.His389Asn) | |
| X | g.50086466C>G | CA413185305 | CLCN5 | c.1153C>G (p.His385Asp) c.403C>G (p.His135Asp) c.943C>G (p.His315Asp) c.1440C>G c.*328C>G (n.*328C>G) c.1003C>G (p.His335Asp) c.1165C>G (p.His389Asp) | |
| X | g.50086466C>T | CA413185306 | CLCN5 | c.1153C>T (p.His385Tyr) c.403C>T (p.His135Tyr) c.943C>T (p.His315Tyr) c.1440C>T c.*328C>T (n.*328C>T) c.1003C>T (p.His335Tyr) c.1165C>T (p.His389Tyr) | |
| X | g.50086467A= | CA2428768877 | CLCN5 | c.1154A= (p.His385=) c.404A= (p.His135=) c.944A= (p.His315=) c.1441A= c.*329A= (n.*329A=) c.1004A= (p.His335=) c.1166A= (p.His389=) | |
| X | g.50086467A>C | CA413185307 | CLCN5 | c.1154A>C (p.His385Pro) c.404A>C (p.His135Pro) c.944A>C (p.His315Pro) c.1441A>C c.*329A>C (n.*329A>C) c.1004A>C (p.His335Pro) c.1166A>C (p.His389Pro) | |
| X | g.50086467A>G | CA413185309 | CLCN5 | c.1154A>G (p.His385Arg) c.404A>G (p.His135Arg) c.944A>G (p.His315Arg) c.1441A>G c.*329A>G (n.*329A>G) c.1004A>G (p.His335Arg) c.1166A>G (p.His389Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.50086467A>T | CA413185308 | CLCN5 | c.1154A>T (p.His385Leu) c.404A>T (p.His135Leu) c.944A>T (p.His315Leu) c.1441A>T c.*329A>T (n.*329A>T) c.1004A>T (p.His335Leu) c.1166A>T (p.His389Leu) | gnomAD v4 |
| X | g.50086468T>A | CA413185310 | CLCN5 | c.1155T>A (p.His385Gln) c.405T>A (p.His135Gln) c.945T>A (p.His315Gln) c.1442T>A c.*330T>A (n.*330T>A) c.1005T>A (p.His335Gln) c.1167T>A (p.His389Gln) | |
| X | g.50086468T>C | CA516678283 | CLCN5 | c.1155T>C (p.His385=) c.405T>C (p.His135=) c.945T>C (p.His315=) c.1442T>C c.*330T>C (n.*330T>C) c.1005T>C (p.His335=) c.1167T>C (p.His389=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086468T>G | CA413185311 | CLCN5 | c.1155T>G (p.His385Gln) c.405T>G (p.His135Gln) c.945T>G (p.His315Gln) c.1442T>G c.*330T>G (n.*330T>G) c.1005T>G (p.His335Gln) c.1167T>G (p.His389Gln) | |
| X | g.50086468T= | CA2428768878 | CLCN5 | c.1155T= (p.His385=) c.405T= (p.His135=) c.945T= (p.His315=) c.1442T= c.*330T= (n.*330T=) c.1005T= (p.His335=) c.1167T= (p.His389=) | |
| X | g.50086469C>A | CA413185312 | CLCN5 | c.1156C>A (p.Leu386Ile) c.406C>A (p.Leu136Ile) c.946C>A (p.Leu316Ile) c.1443C>A c.*331C>A (n.*331C>A) c.1006C>A (p.Leu336Ile) c.1168C>A (p.Leu390Ile) | |
| X | g.50086469C>G | CA413185313 | CLCN5 | c.1156C>G (p.Leu386Val) c.406C>G (p.Leu136Val) c.946C>G (p.Leu316Val) c.1443C>G c.*331C>G (n.*331C>G) c.1006C>G (p.Leu336Val) c.1168C>G (p.Leu390Val) | gnomAD v4 |
| X | g.50086469C>T | CA413185314 | CLCN5 | c.1156C>T (p.Leu386Phe) c.406C>T (p.Leu136Phe) c.946C>T (p.Leu316Phe) c.1443C>T c.*331C>T (n.*331C>T) c.1006C>T (p.Leu336Phe) c.1168C>T (p.Leu390Phe) | |
| X | g.50086470T>A | CA413185315 | CLCN5 | c.1157T>A (p.Leu386His) c.407T>A (p.Leu136His) c.947T>A (p.Leu316His) c.1444T>A c.*332T>A (n.*332T>A) c.1007T>A (p.Leu336His) c.1169T>A (p.Leu390His) | |
| X | g.50086470T>C | CA413185316 | CLCN5 | c.1157T>C (p.Leu386Pro) c.407T>C (p.Leu136Pro) c.947T>C (p.Leu316Pro) c.1444T>C c.*332T>C (n.*332T>C) c.1007T>C (p.Leu336Pro) c.1169T>C (p.Leu390Pro) | |
| X | g.50086470T>G | CA413185317 | CLCN5 | c.1157T>G (p.Leu386Arg) c.407T>G (p.Leu136Arg) c.947T>G (p.Leu316Arg) c.1444T>G c.*332T>G (n.*332T>G) c.1007T>G (p.Leu336Arg) c.1169T>G (p.Leu390Arg) | |
| X | g.50086471C>A | CA516678290 | CLCN5 | c.1158C>A (p.Leu386=) c.408C>A (p.Leu136=) c.948C>A (p.Leu316=) c.1445C>A c.*333C>A (n.*333C>A) c.1008C>A (p.Leu336=) c.1170C>A (p.Leu390=) | |
| X | g.50086471C>G | CA516678291 | CLCN5 | c.1158C>G (p.Leu386=) c.408C>G (p.Leu136=) c.948C>G (p.Leu316=) c.1445C>G c.*333C>G (n.*333C>G) c.1008C>G (p.Leu336=) c.1170C>G (p.Leu390=) | |
| X | g.50086471C>T | CA516678293 | CLCN5 | c.1158C>T (p.Leu386=) c.408C>T (p.Leu136=) c.948C>T (p.Leu316=) c.1445C>T c.*333C>T (n.*333C>T) c.1008C>T (p.Leu336=) c.1170C>T (p.Leu390=) | |
| X | g.50086472T>A | CA413185318 | CLCN5 | c.1159T>A (p.Phe387Ile) c.409T>A (p.Phe137Ile) c.949T>A (p.Phe317Ile) c.1446T>A c.*334T>A (n.*334T>A) c.1009T>A (p.Phe337Ile) c.1171T>A (p.Phe391Ile) | |
| X | g.50086472T>C | CA413185319 | CLCN5 | c.1159T>C (p.Phe387Leu) c.409T>C (p.Phe137Leu) c.949T>C (p.Phe317Leu) c.1446T>C c.*334T>C (n.*334T>C) c.1009T>C (p.Phe337Leu) c.1171T>C (p.Phe391Leu) | |
| X | g.50086472T>G | CA413185320 | CLCN5 | c.1159T>G (p.Phe387Val) c.409T>G (p.Phe137Val) c.949T>G (p.Phe317Val) c.1446T>G c.*334T>G (n.*334T>G) c.1009T>G (p.Phe337Val) c.1171T>G (p.Phe391Val) | |
| X | g.50086473T>A | CA413185321 | CLCN5 | c.1160T>A (p.Phe387Tyr) c.410T>A (p.Phe137Tyr) c.950T>A (p.Phe317Tyr) c.1447T>A c.*335T>A (n.*335T>A) c.1010T>A (p.Phe337Tyr) c.1172T>A (p.Phe391Tyr) | |
| X | g.50086473T>C | CA413185323 | CLCN5 | c.1160T>C (p.Phe387Ser) c.410T>C (p.Phe137Ser) c.950T>C (p.Phe317Ser) c.1447T>C c.*335T>C (n.*335T>C) c.1010T>C (p.Phe337Ser) c.1172T>C (p.Phe391Ser) | |
| X | g.50086473T>G | CA413185322 | CLCN5 | c.1160T>G (p.Phe387Cys) c.410T>G (p.Phe137Cys) c.950T>G (p.Phe317Cys) c.1447T>G c.*335T>G (n.*335T>G) c.1010T>G (p.Phe337Cys) c.1172T>G (p.Phe391Cys) | |
| X | g.50086474T>A | CA413185324 | CLCN5 | c.1161T>A (p.Phe387Leu) c.411T>A (p.Phe137Leu) c.951T>A (p.Phe317Leu) c.1448T>A c.*336T>A (n.*336T>A) c.1011T>A (p.Phe337Leu) c.1173T>A (p.Phe391Leu) | gnomAD v4 |
| X | g.50086474T>C | CA516678298 | CLCN5 | c.1161T>C (p.Phe387=) c.411T>C (p.Phe137=) c.951T>C (p.Phe317=) c.1448T>C c.*336T>C (n.*336T>C) c.1011T>C (p.Phe337=) c.1173T>C (p.Phe391=) | |
| X | g.50086474T>G | CA413185325 | CLCN5 | c.1161T>G (p.Phe387Leu) c.411T>G (p.Phe137Leu) c.951T>G (p.Phe317Leu) c.1448T>G c.*336T>G (n.*336T>G) c.1011T>G (p.Phe337Leu) c.1173T>G (p.Phe391Leu) | |
| X | g.50086475G>A | CA413185326 | CLCN5 | c.1162G>A (p.Glu388Lys) c.412G>A (p.Glu138Lys) c.952G>A (p.Glu318Lys) c.1449G>A c.*337G>A (n.*337G>A) c.1012G>A (p.Glu338Lys) c.1174G>A (p.Glu392Lys) | ClinVar |
| X | g.50086475G>C | CA413185327 | CLCN5 | c.1162G>C (p.Glu388Gln) c.412G>C (p.Glu138Gln) c.952G>C (p.Glu318Gln) c.1449G>C c.*337G>C (n.*337G>C) c.1012G>C (p.Glu338Gln) c.1174G>C (p.Glu392Gln) | |
| X | g.50086475G>T | CA413185328 | CLCN5 | c.1162G>T (p.Glu388Ter) c.412G>T (p.Glu138Ter) c.952G>T (p.Glu318Ter) c.1449G>T c.*337G>T (n.*337G>T) c.1012G>T (p.Glu338Ter) c.1174G>T (p.Glu392Ter) | |
| X | g.50086476A>C | CA413185329 | CLCN5 | c.1163A>C (p.Glu388Ala) c.413A>C (p.Glu138Ala) c.953A>C (p.Glu318Ala) c.1450A>C c.*338A>C (n.*338A>C) c.1013A>C (p.Glu338Ala) c.1175A>C (p.Glu392Ala) | |
| X | g.50086476A>G | CA413185330 | CLCN5 | c.1163A>G (p.Glu388Gly) c.413A>G (p.Glu138Gly) c.953A>G (p.Glu318Gly) c.1450A>G c.*338A>G (n.*338A>G) c.1013A>G (p.Glu338Gly) c.1175A>G (p.Glu392Gly) | |
| X | g.50086476A>T | CA413185331 | CLCN5 | c.1163A>T (p.Glu388Val) c.413A>T (p.Glu138Val) c.953A>T (p.Glu318Val) c.1450A>T c.*338A>T (n.*338A>T) c.1013A>T (p.Glu338Val) c.1175A>T (p.Glu392Val) | |
| X | g.50086477G>A | CA516678309 | CLCN5 | c.1164G>A (p.Glu388=) c.414G>A (p.Glu138=) c.954G>A (p.Glu318=) c.1451G>A c.*339G>A (n.*339G>A) c.1014G>A (p.Glu338=) c.1176G>A (p.Glu392=) | dbSNP gnomAD v4 |
| X | g.50086477G>C | CA413185332 | CLCN5 | c.1164G>C (p.Glu388Asp) c.414G>C (p.Glu138Asp) c.954G>C (p.Glu318Asp) c.1451G>C c.*339G>C (n.*339G>C) c.1014G>C (p.Glu338Asp) c.1176G>C (p.Glu392Asp) | |
| X | g.50086477G= | CA2428768879 | CLCN5 | c.1164G= (p.Glu388=) c.414G= (p.Glu138=) c.954G= (p.Glu318=) c.1451G= c.*339G= (n.*339G=) c.1014G= (p.Glu338=) c.1176G= (p.Glu392=) | |
| X | g.50086477G>T | CA413185333 | CLCN5 | c.1164G>T (p.Glu388Asp) c.414G>T (p.Glu138Asp) c.954G>T (p.Glu318Asp) c.1451G>T c.*339G>T (n.*339G>T) c.1014G>T (p.Glu338Asp) c.1176G>T (p.Glu392Asp) | COSMIC COSMIC |
| X | g.50086478C>A | CA413185334 | CLCN5 | c.1165C>A (p.Leu389Ile) c.415C>A (p.Leu139Ile) c.955C>A (p.Leu319Ile) c.1452C>A c.*340C>A (n.*340C>A) c.1015C>A (p.Leu339Ile) c.1177C>A (p.Leu393Ile) | |
| X | g.50086478C>G | CA413185335 | CLCN5 | c.1165C>G (p.Leu389Val) c.415C>G (p.Leu139Val) c.955C>G (p.Leu319Val) c.1452C>G c.*340C>G (n.*340C>G) c.1015C>G (p.Leu339Val) c.1177C>G (p.Leu393Val) | |
| X | g.50086478C>T | CA413185336 | CLCN5 | c.1165C>T (p.Leu389Phe) c.415C>T (p.Leu139Phe) c.955C>T (p.Leu319Phe) c.1452C>T c.*340C>T (n.*340C>T) c.1015C>T (p.Leu339Phe) c.1177C>T (p.Leu393Phe) | |
| X | g.50086479T>A | CA413185337 | CLCN5 | c.1166T>A (p.Leu389His) c.416T>A (p.Leu139His) c.956T>A (p.Leu319His) c.1453T>A c.*341T>A (n.*341T>A) c.1016T>A (p.Leu339His) c.1178T>A (p.Leu393His) | |
| X | g.50086479T>C | CA413185339 | CLCN5 | c.1166T>C (p.Leu389Pro) c.416T>C (p.Leu139Pro) c.956T>C (p.Leu319Pro) c.1453T>C c.*341T>C (n.*341T>C) c.1016T>C (p.Leu339Pro) c.1178T>C (p.Leu393Pro) | |
| X | g.50086479T>G | CA413185338 | CLCN5 | c.1166T>G (p.Leu389Arg) c.416T>G (p.Leu139Arg) c.956T>G (p.Leu319Arg) c.1453T>G c.*341T>G (n.*341T>G) c.1016T>G (p.Leu339Arg) c.1178T>G (p.Leu393Arg) | |
| X | g.50086480C>A | CA516678317 | CLCN5 | c.1167C>A (p.Leu389=) c.417C>A (p.Leu139=) c.957C>A (p.Leu319=) c.1454C>A c.*342C>A (n.*342C>A) c.1017C>A (p.Leu339=) c.1179C>A (p.Leu393=) | |
| X | g.50086480C= | CA2428768880 | CLCN5 | c.1167C= (p.Leu389=) c.417C= (p.Leu139=) c.957C= (p.Leu319=) c.1454C= c.*342C= (n.*342C=) c.1017C= (p.Leu339=) c.1179C= (p.Leu393=) | |
| X | g.50086480C>G | CA516678319 | CLCN5 | c.1167C>G (p.Leu389=) c.417C>G (p.Leu139=) c.957C>G (p.Leu319=) c.1454C>G c.*342C>G (n.*342C>G) c.1017C>G (p.Leu339=) c.1179C>G (p.Leu393=) | |
| X | g.50086480C>T | CA10413844 | CLCN5 | c.1167C>T (p.Leu389=) c.417C>T (p.Leu139=) c.957C>T (p.Leu319=) c.1454C>T c.*342C>T (n.*342C>T) c.1017C>T (p.Leu339=) c.1179C>T (p.Leu393=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.50086481G>A | CA10413845 | CLCN5 | c.1168G>A (p.Val390Met) c.418G>A (p.Val140Met) c.958G>A (p.Val320Met) c.1455G>A c.*343G>A (n.*343G>A) c.1018G>A (p.Val340Met) c.1180G>A (p.Val394Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.50086481G>C | CA413185340 | CLCN5 | c.1168G>C (p.Val390Leu) c.418G>C (p.Val140Leu) c.958G>C (p.Val320Leu) c.1455G>C c.*343G>C (n.*343G>C) c.1018G>C (p.Val340Leu) c.1180G>C (p.Val394Leu) | |
| X | g.50086481G= | CA2428768881 | CLCN5 | c.1168G= (p.Val390=) c.418G= (p.Val140=) c.958G= (p.Val320=) c.1455G= c.*343G= (n.*343G=) c.1018G= (p.Val340=) c.1180G= (p.Val394=) | |
| X | g.50086481G>T | CA413185341 | CLCN5 | c.1168G>T (p.Val390Leu) c.418G>T (p.Val140Leu) c.958G>T (p.Val320Leu) c.1455G>T c.*343G>T (n.*343G>T) c.1018G>T (p.Val340Leu) c.1180G>T (p.Val394Leu) | |
| X | g.50086482T>A | CA413185342 | CLCN5 | c.1169T>A (p.Val390Glu) c.419T>A (p.Val140Glu) c.959T>A (p.Val320Glu) c.1456T>A c.*344T>A (n.*344T>A) c.1019T>A (p.Val340Glu) c.1181T>A (p.Val394Glu) | |
| X | g.50086482T>C | CA413185343 | CLCN5 | c.1169T>C (p.Val390Ala) c.419T>C (p.Val140Ala) c.959T>C (p.Val320Ala) c.1456T>C c.*344T>C (n.*344T>C) c.1019T>C (p.Val340Ala) c.1181T>C (p.Val394Ala) | |
| X | g.50086482T>G | CA413185344 | CLCN5 | c.1169T>G (p.Val390Gly) c.419T>G (p.Val140Gly) c.959T>G (p.Val320Gly) c.1456T>G c.*344T>G (n.*344T>G) c.1019T>G (p.Val340Gly) c.1181T>G (p.Val394Gly) | |
| X | g.50086483G>A | CA516678324 | CLCN5 | c.1170G>A (p.Val390=) c.420G>A (p.Val140=) c.960G>A (p.Val320=) c.1457G>A c.*345G>A (n.*345G>A) c.1020G>A (p.Val340=) c.1182G>A (p.Val394=) | |
| X | g.50086483G>C | CA516678326 | CLCN5 | c.1170G>C (p.Val390=) c.420G>C (p.Val140=) c.960G>C (p.Val320=) c.1457G>C c.*345G>C (n.*345G>C) c.1020G>C (p.Val340=) c.1182G>C (p.Val394=) | |
| X | g.50086483G>T | CA516678327 | CLCN5 | c.1170G>T (p.Val390=) c.420G>T (p.Val140=) c.960G>T (p.Val320=) c.1457G>T c.*345G>T (n.*345G>T) c.1020G>T (p.Val340=) c.1182G>T (p.Val394=) | |
| X | g.50086484C>A | CA413185345 | CLCN5 | c.1171C>A (p.Pro391Thr) c.421C>A (p.Pro141Thr) c.961C>A (p.Pro321Thr) c.1458C>A c.*346C>A (n.*346C>A) c.1021C>A (p.Pro341Thr) c.1183C>A (p.Pro395Thr) | |
| X | g.50086484C>G | CA413185346 | CLCN5 | c.1171C>G (p.Pro391Ala) c.421C>G (p.Pro141Ala) c.961C>G (p.Pro321Ala) c.1458C>G c.*346C>G (n.*346C>G) c.1021C>G (p.Pro341Ala) c.1183C>G (p.Pro395Ala) | |
| X | g.50086484C>T | CA413185347 | CLCN5 | c.1171C>T (p.Pro391Ser) c.421C>T (p.Pro141Ser) c.961C>T (p.Pro321Ser) c.1458C>T c.*346C>T (n.*346C>T) c.1021C>T (p.Pro341Ser) c.1183C>T (p.Pro395Ser) | |
| X | g.50086485C>A | CA413185350 | CLCN5 | c.1172C>A (p.Pro391Gln) c.422C>A (p.Pro141Gln) c.962C>A (p.Pro321Gln) c.1459C>A c.*347C>A (n.*347C>A) c.1022C>A (p.Pro341Gln) c.1184C>A (p.Pro395Gln) | |
| X | g.50086485C>G | CA413185349 | CLCN5 | c.1172C>G (p.Pro391Arg) c.422C>G (p.Pro141Arg) c.962C>G (p.Pro321Arg) c.1459C>G c.*347C>G (n.*347C>G) c.1022C>G (p.Pro341Arg) c.1184C>G (p.Pro395Arg) | |
| X | g.50086485C>T | CA413185348 | CLCN5 | c.1172C>T (p.Pro391Leu) c.422C>T (p.Pro141Leu) c.962C>T (p.Pro321Leu) c.1459C>T c.*347C>T (n.*347C>T) c.1022C>T (p.Pro341Leu) c.1184C>T (p.Pro395Leu) | |
| X | g.50086486A>C | CA516678334 | CLCN5 | c.1173A>C (p.Pro391=) c.423A>C (p.Pro141=) c.963A>C (p.Pro321=) c.1460A>C c.*348A>C (n.*348A>C) c.1023A>C (p.Pro341=) c.1185A>C (p.Pro395=) | |
| X | g.50086486A>G | CA516678336 | CLCN5 | c.1173A>G (p.Pro391=) c.423A>G (p.Pro141=) c.963A>G (p.Pro321=) c.1460A>G c.*348A>G (n.*348A>G) c.1023A>G (p.Pro341=) c.1185A>G (p.Pro395=) | |
| X | g.50086486A>T | CA516678338 | CLCN5 | c.1173A>T (p.Pro391=) c.423A>T (p.Pro141=) c.963A>T (p.Pro321=) c.1460A>T c.*348A>T (n.*348A>T) c.1023A>T (p.Pro341=) c.1185A>T (p.Pro395=) | |
| X | g.50086487T>A | CA413185351 | CLCN5 | c.1174T>A (p.Phe392Ile) c.424T>A (p.Phe142Ile) c.964T>A (p.Phe322Ile) c.1461T>A c.*349T>A (n.*349T>A) c.1024T>A (p.Phe342Ile) c.1186T>A (p.Phe396Ile) | |
| X | g.50086487T>C | CA413185353 | CLCN5 | c.1174T>C (p.Phe392Leu) c.424T>C (p.Phe142Leu) c.964T>C (p.Phe322Leu) c.1461T>C c.*349T>C (n.*349T>C) c.1024T>C (p.Phe342Leu) c.1186T>C (p.Phe396Leu) | |
| X | g.50086487T>G | CA413185352 | CLCN5 | c.1174T>G (p.Phe392Val) c.424T>G (p.Phe142Val) c.964T>G (p.Phe322Val) c.1461T>G c.*349T>G (n.*349T>G) c.1024T>G (p.Phe342Val) c.1186T>G (p.Phe396Val) | |
| X | g.50086488T>A | CA413185354 | CLCN5 | c.1175T>A (p.Phe392Tyr) c.425T>A (p.Phe142Tyr) c.965T>A (p.Phe322Tyr) c.1462T>A c.*350T>A (n.*350T>A) c.1025T>A (p.Phe342Tyr) c.1187T>A (p.Phe396Tyr) | |
| X | g.50086488T>C | CA413185355 | CLCN5 | c.1175T>C (p.Phe392Ser) c.425T>C (p.Phe142Ser) c.965T>C (p.Phe322Ser) c.1462T>C c.*350T>C (n.*350T>C) c.1025T>C (p.Phe342Ser) c.1187T>C (p.Phe396Ser) | |
| X | g.50086488T>G | CA413185356 | CLCN5 | c.1175T>G (p.Phe392Cys) c.425T>G (p.Phe142Cys) c.965T>G (p.Phe322Cys) c.1462T>G c.*350T>G (n.*350T>G) c.1025T>G (p.Phe342Cys) c.1187T>G (p.Phe396Cys) | |
| X | g.50086488_50086489delinsTC | CA2428768882 | CLCN5 | c.1175_1176delinsTC (p.Phe392=) c.425_426delinsTC (p.Phe142=) c.965_966delinsTC (p.Phe322=) c.1462_1463delinsTC c.*350_*351delinsTC (n.*350_*351delinsTC) c.1025_1026delinsTC (p.Phe342=) c.1187_1188delinsTC (p.Phe396=) | |
| X | g.50086489del | CA1139667540 | CLCN5 | c.1176del (p.Phe392LeufsTer?) c.426del (p.Phe142LeufsTer?) c.966del (p.Phe322LeufsTer?) c.1463del c.*351del (n.*351del) c.1026del (p.Phe342LeufsTer?) c.1188del (p.Phe396LeufsTer?) | ClinVar dbSNP |
| X | g.50086489C>A | CA413185357 | CLCN5 | c.1176C>A (p.Phe392Leu) c.426C>A (p.Phe142Leu) c.966C>A (p.Phe322Leu) c.1463C>A c.*351C>A (n.*351C>A) c.1026C>A (p.Phe342Leu) c.1188C>A (p.Phe396Leu) | |
| X | g.50086489C>G | CA413185358 | CLCN5 | c.1176C>G (p.Phe392Leu) c.426C>G (p.Phe142Leu) c.966C>G (p.Phe322Leu) c.1463C>G c.*351C>G (n.*351C>G) c.1026C>G (p.Phe342Leu) c.1188C>G (p.Phe396Leu) | |
| X | g.50086489C>T | CA516678344 | CLCN5 | c.1176C>T (p.Phe392=) c.426C>T (p.Phe142=) c.966C>T (p.Phe322=) c.1463C>T c.*351C>T (n.*351C>T) c.1026C>T (p.Phe342=) c.1188C>T (p.Phe396=) | |
| X | g.50086490A= | CA2428768883 | CLCN5 | c.1177A= (p.Ile393=) c.427A= (p.Ile143=) c.967A= (p.Ile323=) c.1464A= c.*352A= (n.*352A=) c.1027A= (p.Ile343=) c.1189A= (p.Ile397=) | |
| X | g.50086490A>C | CA413185359 | CLCN5 | c.1177A>C (p.Ile393Leu) c.427A>C (p.Ile143Leu) c.967A>C (p.Ile323Leu) c.1464A>C c.*352A>C (n.*352A>C) c.1027A>C (p.Ile343Leu) c.1189A>C (p.Ile397Leu) | |
| X | g.50086490A>G | CA413185360 | CLCN5 | c.1177A>G (p.Ile393Val) c.427A>G (p.Ile143Val) c.967A>G (p.Ile323Val) c.1464A>G c.*352A>G (n.*352A>G) c.1027A>G (p.Ile343Val) c.1189A>G (p.Ile397Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086490A>T | CA413185361 | CLCN5 | c.1177A>T (p.Ile393Phe) c.427A>T (p.Ile143Phe) c.967A>T (p.Ile323Phe) c.1464A>T c.*352A>T (n.*352A>T) c.1027A>T (p.Ile343Phe) c.1189A>T (p.Ile397Phe) | |
| X | g.50086491T>A | CA413185362 | CLCN5 | c.1178T>A (p.Ile393Asn) c.428T>A (p.Ile143Asn) c.968T>A (p.Ile323Asn) c.1465T>A c.*353T>A (n.*353T>A) c.1028T>A (p.Ile343Asn) c.1190T>A (p.Ile397Asn) | |
| X | g.50086491T>C | CA413185363 | CLCN5 | c.1178T>C (p.Ile393Thr) c.428T>C (p.Ile143Thr) c.968T>C (p.Ile323Thr) c.1465T>C c.*353T>C (n.*353T>C) c.1028T>C (p.Ile343Thr) c.1190T>C (p.Ile397Thr) | |
| X | g.50086491T>G | CA413185364 | CLCN5 | c.1178T>G (p.Ile393Ser) c.428T>G (p.Ile143Ser) c.968T>G (p.Ile323Ser) c.1465T>G c.*353T>G (n.*353T>G) c.1028T>G (p.Ile343Ser) c.1190T>G (p.Ile397Ser) | |
| X | g.50086492T>A | CA516678350 | CLCN5 | c.1179T>A (p.Ile393=) c.429T>A (p.Ile143=) c.969T>A (p.Ile323=) c.1466T>A c.*354T>A (n.*354T>A) c.1029T>A (p.Ile343=) c.1191T>A (p.Ile397=) | |
| X | g.50086492T>C | CA516678351 | CLCN5 | c.1179T>C (p.Ile393=) c.429T>C (p.Ile143=) c.969T>C (p.Ile323=) c.1466T>C c.*354T>C (n.*354T>C) c.1029T>C (p.Ile343=) c.1191T>C (p.Ile397=) | |
| X | g.50086492T>G | CA413185365 | CLCN5 | c.1179T>G (p.Ile393Met) c.429T>G (p.Ile143Met) c.969T>G (p.Ile323Met) c.1466T>G c.*354T>G (n.*354T>G) c.1029T>G (p.Ile343Met) c.1191T>G (p.Ile397Met) | |
| X | g.50086493C>A | CA413185366 | CLCN5 | c.1180C>A (p.Leu394Met) c.430C>A (p.Leu144Met) c.970C>A (p.Leu324Met) c.1467C>A c.*355C>A (n.*355C>A) c.1030C>A (p.Leu344Met) c.1192C>A (p.Leu398Met) | |
| X | g.50086493C= | CA2428768884 | CLCN5 | c.1180C= (p.Leu394=) c.430C= (p.Leu144=) c.970C= (p.Leu324=) c.1467C= c.*355C= (n.*355C=) c.1030C= (p.Leu344=) c.1192C= (p.Leu398=) | |
| X | g.50086493C>G | CA413185367 | CLCN5 | c.1180C>G (p.Leu394Val) c.430C>G (p.Leu144Val) c.970C>G (p.Leu324Val) c.1467C>G c.*355C>G (n.*355C>G) c.1030C>G (p.Leu344Val) c.1192C>G (p.Leu398Val) | dbSNP |
| X | g.50086493C>T | CA516678356 | CLCN5 | c.1180C>T (p.Leu394=) c.430C>T (p.Leu144=) c.970C>T (p.Leu324=) c.1467C>T c.*355C>T (n.*355C>T) c.1030C>T (p.Leu344=) c.1192C>T (p.Leu398=) | |
| X | g.50086494T>A | CA413185368 | CLCN5 | c.1181T>A (p.Leu394Gln) c.431T>A (p.Leu144Gln) c.971T>A (p.Leu324Gln) c.1468T>A c.*356T>A (n.*356T>A) c.1031T>A (p.Leu344Gln) c.1193T>A (p.Leu398Gln) | gnomAD v4 |
| X | g.50086494T>C | CA413185369 | CLCN5 | c.1181T>C (p.Leu394Pro) c.431T>C (p.Leu144Pro) c.971T>C (p.Leu324Pro) c.1468T>C c.*356T>C (n.*356T>C) c.1031T>C (p.Leu344Pro) c.1193T>C (p.Leu398Pro) | |
| X | g.50086494T>G | CA413185370 | CLCN5 | c.1181T>G (p.Leu394Arg) c.431T>G (p.Leu144Arg) c.971T>G (p.Leu324Arg) c.1468T>G c.*356T>G (n.*356T>G) c.1031T>G (p.Leu344Arg) c.1193T>G (p.Leu398Arg) | |
| X | g.50086495G>A | CA516678363 | CLCN5 | c.1182G>A (p.Leu394=) c.432G>A (p.Leu144=) c.972G>A (p.Leu324=) c.1469G>A c.*357G>A (n.*357G>A) c.1032G>A (p.Leu344=) c.1194G>A (p.Leu398=) | |
| X | g.50086495G>C | CA516678365 | CLCN5 | c.1182G>C (p.Leu394=) c.432G>C (p.Leu144=) c.972G>C (p.Leu324=) c.1469G>C c.*357G>C (n.*357G>C) c.1032G>C (p.Leu344=) c.1194G>C (p.Leu398=) | |
| X | g.50086495G>T | CA516678367 | CLCN5 | c.1182G>T (p.Leu394=) c.432G>T (p.Leu144=) c.972G>T (p.Leu324=) c.1469G>T c.*357G>T (n.*357G>T) c.1032G>T (p.Leu344=) c.1194G>T (p.Leu398=) | |
| X | g.50086496C>A | CA413185371 | CLCN5 | c.1183C>A (p.Leu395Met) c.433C>A (p.Leu145Met) c.973C>A (p.Leu325Met) c.1470C>A c.*358C>A (n.*358C>A) c.1033C>A (p.Leu345Met) c.1195C>A (p.Leu399Met) | |
| X | g.50086496C>G | CA413185372 | CLCN5 | c.1183C>G (p.Leu395Val) c.433C>G (p.Leu145Val) c.973C>G (p.Leu325Val) c.1470C>G c.*358C>G (n.*358C>G) c.1033C>G (p.Leu345Val) c.1195C>G (p.Leu399Val) | |
| X | g.50086496C>T | CA516678370 | CLCN5 | c.1183C>T (p.Leu395=) c.433C>T (p.Leu145=) c.973C>T (p.Leu325=) c.1470C>T c.*358C>T (n.*358C>T) c.1033C>T (p.Leu345=) c.1195C>T (p.Leu399=) | |
| X | g.50086497T>A | CA413185373 | CLCN5 | c.1184T>A (p.Leu395Gln) c.434T>A (p.Leu145Gln) c.974T>A (p.Leu325Gln) c.1471T>A c.*359T>A (n.*359T>A) c.1034T>A (p.Leu345Gln) c.1196T>A (p.Leu399Gln) | |
| X | g.50086497T>C | CA413185374 | CLCN5 | c.1184T>C (p.Leu395Pro) c.434T>C (p.Leu145Pro) c.974T>C (p.Leu325Pro) c.1471T>C c.*359T>C (n.*359T>C) c.1034T>C (p.Leu345Pro) c.1196T>C (p.Leu399Pro) | |
| X | g.50086497T>G | CA413185375 | CLCN5 | c.1184T>G (p.Leu395Arg) c.434T>G (p.Leu145Arg) c.974T>G (p.Leu325Arg) c.1471T>G c.*359T>G (n.*359T>G) c.1034T>G (p.Leu345Arg) c.1196T>G (p.Leu399Arg) | |
| X | g.50086498G>A | CA516678371 | CLCN5 | c.1185G>A (p.Leu395=) c.435G>A (p.Leu145=) c.975G>A (p.Leu325=) c.1472G>A c.*360G>A (n.*360G>A) c.1035G>A (p.Leu345=) c.1197G>A (p.Leu399=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.50086498G>C | CA516678374 | CLCN5 | c.1185G>C (p.Leu395=) c.435G>C (p.Leu145=) c.975G>C (p.Leu325=) c.1472G>C c.*360G>C (n.*360G>C) c.1035G>C (p.Leu345=) c.1197G>C (p.Leu399=) | |
| X | g.50086498G= | CA2428768885 | CLCN5 | c.1185G= (p.Leu395=) c.435G= (p.Leu145=) c.975G= (p.Leu325=) c.1472G= c.*360G= (n.*360G=) c.1035G= (p.Leu345=) c.1197G= (p.Leu399=) | |
| X | g.50086498G>T | CA516678376 | CLCN5 | c.1185G>T (p.Leu395=) c.435G>T (p.Leu145=) c.975G>T (p.Leu325=) c.1472G>T c.*360G>T (n.*360G>T) c.1035G>T (p.Leu345=) c.1197G>T (p.Leu399=) | |
| X | g.50086500del | CA2695233682 | CLCN5 | c.1187del (p.Gly396AlafsTer?) c.437del (p.Gly146AlafsTer?) c.977del (p.Gly326AlafsTer?) c.1474del c.*362del (n.*362del) c.1037del (p.Gly346AlafsTer?) c.1199del (p.Gly400AlafsTer?) | |
| X | g.50086499G>A | CA413185376 | CLCN5 | c.1186G>A (p.Gly396Ser) c.436G>A (p.Gly146Ser) c.976G>A (p.Gly326Ser) c.1473G>A c.*361G>A (n.*361G>A) c.1036G>A (p.Gly346Ser) c.1198G>A (p.Gly400Ser) | |
| X | g.50086499G>C | CA413185377 | CLCN5 | c.1186G>C (p.Gly396Arg) c.436G>C (p.Gly146Arg) c.976G>C (p.Gly326Arg) c.1473G>C c.*361G>C (n.*361G>C) c.1036G>C (p.Gly346Arg) c.1198G>C (p.Gly400Arg) | |
| X | g.50086499G>T | CA413185378 | CLCN5 | c.1186G>T (p.Gly396Cys) c.436G>T (p.Gly146Cys) c.976G>T (p.Gly326Cys) c.1473G>T c.*361G>T (n.*361G>T) c.1036G>T (p.Gly346Cys) c.1198G>T (p.Gly400Cys) | |
| X | g.50086500G>A | CA413185380 | CLCN5 | c.1187G>A (p.Gly396Asp) c.437G>A (p.Gly146Asp) c.977G>A (p.Gly326Asp) c.1474G>A c.*362G>A (n.*362G>A) c.1037G>A (p.Gly346Asp) c.1199G>A (p.Gly400Asp) | |
| X | g.50086500G>C | CA413185381 | CLCN5 | c.1187G>C (p.Gly396Ala) c.437G>C (p.Gly146Ala) c.977G>C (p.Gly326Ala) c.1474G>C c.*362G>C (n.*362G>C) c.1037G>C (p.Gly346Ala) c.1199G>C (p.Gly400Ala) | |
| X | g.50086500G>T | CA413185379 | CLCN5 | c.1187G>T (p.Gly396Val) c.437G>T (p.Gly146Val) c.977G>T (p.Gly326Val) c.1474G>T c.*362G>T (n.*362G>T) c.1037G>T (p.Gly346Val) c.1199G>T (p.Gly400Val) | |
| X | g.50086501C>A | CA516678386 | CLCN5 | c.1188C>A (p.Gly396=) c.438C>A (p.Gly146=) c.978C>A (p.Gly326=) c.1475C>A c.*363C>A (n.*363C>A) c.1038C>A (p.Gly346=) c.1200C>A (p.Gly400=) | dbSNP |
| X | g.50086501C= | CA2428768886 | CLCN5 | c.1188C= (p.Gly396=) c.438C= (p.Gly146=) c.978C= (p.Gly326=) c.1475C= c.*363C= (n.*363C=) c.1038C= (p.Gly346=) c.1200C= (p.Gly400=) | |
| X | g.50086501C>G | CA516678381 | CLCN5 | c.1188C>G (p.Gly396=) c.438C>G (p.Gly146=) c.978C>G (p.Gly326=) c.1475C>G c.*363C>G (n.*363C>G) c.1038C>G (p.Gly346=) c.1200C>G (p.Gly400=) | |
| X | g.50086501C>T | CA516678383 | CLCN5 | c.1188C>T (p.Gly396=) c.438C>T (p.Gly146=) c.978C>T (p.Gly326=) c.1475C>T c.*363C>T (n.*363C>T) c.1038C>T (p.Gly346=) c.1200C>T (p.Gly400=) | |
| X | g.50086502A>C | CA413185382 | CLCN5 | c.1189A>C (p.Ile397Leu) c.439A>C (p.Ile147Leu) c.979A>C (p.Ile327Leu) c.1476A>C c.*364A>C (n.*364A>C) c.1039A>C (p.Ile347Leu) c.1201A>C (p.Ile401Leu) | |
| X | g.50086502A>G | CA413185383 | CLCN5 | c.1189A>G (p.Ile397Val) c.439A>G (p.Ile147Val) c.979A>G (p.Ile327Val) c.1476A>G c.*364A>G (n.*364A>G) c.1039A>G (p.Ile347Val) c.1201A>G (p.Ile401Val) | gnomAD v4 |
| X | g.50086502A>T | CA413185384 | CLCN5 | c.1189A>T (p.Ile397Leu) c.439A>T (p.Ile147Leu) c.979A>T (p.Ile327Leu) c.1476A>T c.*364A>T (n.*364A>T) c.1039A>T (p.Ile347Leu) c.1201A>T (p.Ile401Leu) | |
| X | g.50086503T>A | CA413185385 | CLCN5 | c.1190T>A (p.Ile397Lys) c.440T>A (p.Ile147Lys) c.980T>A (p.Ile327Lys) c.1477T>A c.*365T>A (n.*365T>A) c.1040T>A (p.Ile347Lys) c.1202T>A (p.Ile401Lys) | |
| X | g.50086503T>C | CA413185386 | CLCN5 | c.1190T>C (p.Ile397Thr) c.440T>C (p.Ile147Thr) c.980T>C (p.Ile327Thr) c.1477T>C c.*365T>C (n.*365T>C) c.1040T>C (p.Ile347Thr) c.1202T>C (p.Ile401Thr) | |
| X | g.50086503T>G | CA413185387 | CLCN5 | c.1190T>G (p.Ile397Arg) c.440T>G (p.Ile147Arg) c.980T>G (p.Ile327Arg) c.1477T>G c.*365T>G (n.*365T>G) c.1040T>G (p.Ile347Arg) c.1202T>G (p.Ile401Arg) | |
| X | g.50086504A>C | CA516678389 | CLCN5 | c.1191A>C (p.Ile397=) c.441A>C (p.Ile147=) c.981A>C (p.Ile327=) c.1478A>C c.*366A>C (n.*366A>C) c.1041A>C (p.Ile347=) c.1203A>C (p.Ile401=) | |
| X | g.50086504A>G | CA413185388 | CLCN5 | c.1191A>G (p.Ile397Met) c.441A>G (p.Ile147Met) c.981A>G (p.Ile327Met) c.1478A>G c.*366A>G (n.*366A>G) c.1041A>G (p.Ile347Met) c.1203A>G (p.Ile401Met) | ClinVar gnomAD v4 |
| X | g.50086504A>T | CA516678391 | CLCN5 | c.1191A>T (p.Ile397=) c.441A>T (p.Ile147=) c.981A>T (p.Ile327=) c.1478A>T c.*366A>T (n.*366A>T) c.1041A>T (p.Ile347=) c.1203A>T (p.Ile401=) | |
| X | g.50086505T>A | CA413185389 | CLCN5 | c.1192T>A (p.Phe398Ile) c.442T>A (p.Phe148Ile) c.982T>A (p.Phe328Ile) c.1479T>A c.*367T>A (n.*367T>A) c.1042T>A (p.Phe348Ile) c.1204T>A (p.Phe402Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.50086505T>C | CA413185390 | CLCN5 | c.1192T>C (p.Phe398Leu) c.442T>C (p.Phe148Leu) c.982T>C (p.Phe328Leu) c.1479T>C c.*367T>C (n.*367T>C) c.1042T>C (p.Phe348Leu) c.1204T>C (p.Phe402Leu) | |
| X | g.50086505T>G | CA413185391 | CLCN5 | c.1192T>G (p.Phe398Val) c.442T>G (p.Phe148Val) c.982T>G (p.Phe328Val) c.1479T>G c.*367T>G (n.*367T>G) c.1042T>G (p.Phe348Val) c.1204T>G (p.Phe402Val) | |
| X | g.50086505T= | CA2428768887 | CLCN5 | c.1192T= (p.Phe398=) c.442T= (p.Phe148=) c.982T= (p.Phe328=) c.1479T= c.*367T= (n.*367T=) c.1042T= (p.Phe348=) c.1204T= (p.Phe402=) | |
| X | g.50086506T>A | CA413185392 | CLCN5 | c.1193T>A (p.Phe398Tyr) c.443T>A (p.Phe148Tyr) c.983T>A (p.Phe328Tyr) c.1480T>A c.*368T>A (n.*368T>A) c.1043T>A (p.Phe348Tyr) c.1205T>A (p.Phe402Tyr) | |
| X | g.50086506T>C | CA413185393 | CLCN5 | c.1193T>C (p.Phe398Ser) c.443T>C (p.Phe148Ser) c.983T>C (p.Phe328Ser) c.1480T>C c.*368T>C (n.*368T>C) c.1043T>C (p.Phe348Ser) c.1205T>C (p.Phe402Ser) | |
| X | g.50086506T>G | CA413185394 | CLCN5 | c.1193T>G (p.Phe398Cys) c.443T>G (p.Phe148Cys) c.983T>G (p.Phe328Cys) c.1480T>G c.*368T>G (n.*368T>G) c.1043T>G (p.Phe348Cys) c.1205T>G (p.Phe402Cys) | |
| X | g.50086507T>A | CA413185396 | CLCN5 | c.1194T>A (p.Phe398Leu) c.444T>A (p.Phe148Leu) c.984T>A (p.Phe328Leu) c.1481T>A c.*369T>A (n.*369T>A) c.1044T>A (p.Phe348Leu) c.1206T>A (p.Phe402Leu) | |
| X | g.50086507T>C | CA516678401 | CLCN5 | c.1194T>C (p.Phe398=) c.444T>C (p.Phe148=) c.984T>C (p.Phe328=) c.1481T>C c.*369T>C (n.*369T>C) c.1044T>C (p.Phe348=) c.1206T>C (p.Phe402=) | |
| X | g.50086507T>G | CA413185395 | CLCN5 | c.1194T>G (p.Phe398Leu) c.444T>G (p.Phe148Leu) c.984T>G (p.Phe328Leu) c.1481T>G c.*369T>G (n.*369T>G) c.1044T>G (p.Phe348Leu) c.1206T>G (p.Phe402Leu) | |
| X | g.50086508G>A | CA413185397 | CLCN5 | c.1195G>A (p.Gly399Ser) c.445G>A (p.Gly149Ser) c.985G>A (p.Gly329Ser) c.1482G>A c.*370G>A (n.*370G>A) c.1045G>A (p.Gly349Ser) c.1207G>A (p.Gly403Ser) | |
| X | g.50086508G>C | CA413185398 | CLCN5 | c.1195G>C (p.Gly399Arg) c.445G>C (p.Gly149Arg) c.985G>C (p.Gly329Arg) c.1482G>C c.*370G>C (n.*370G>C) c.1045G>C (p.Gly349Arg) c.1207G>C (p.Gly403Arg) | |
| X | g.50086508G>T | CA413185399 | CLCN5 | c.1195G>T (p.Gly399Cys) c.445G>T (p.Gly149Cys) c.985G>T (p.Gly329Cys) c.1482G>T c.*370G>T (n.*370G>T) c.1045G>T (p.Gly349Cys) c.1207G>T (p.Gly403Cys) | |
| X | g.50086509G>A | CA413185400 | CLCN5 | c.1196G>A (p.Gly399Asp) c.446G>A (p.Gly149Asp) c.986G>A (p.Gly329Asp) c.1483G>A c.*371G>A (n.*371G>A) c.1046G>A (p.Gly349Asp) c.1208G>A (p.Gly403Asp) | |
| X | g.50086509G>C | CA413185401 | CLCN5 | c.1196G>C (p.Gly399Ala) c.446G>C (p.Gly149Ala) c.986G>C (p.Gly329Ala) c.1483G>C c.*371G>C (n.*371G>C) c.1046G>C (p.Gly349Ala) c.1208G>C (p.Gly403Ala) | |
| X | g.50086509G>T | CA413185402 | CLCN5 | c.1196G>T (p.Gly399Val) c.446G>T (p.Gly149Val) c.986G>T (p.Gly329Val) c.1483G>T c.*371G>T (n.*371G>T) c.1046G>T (p.Gly349Val) c.1208G>T (p.Gly403Val) | |
| X | g.50086510T>A | CA516678406 | CLCN5 | c.1197T>A (p.Gly399=) c.447T>A (p.Gly149=) c.987T>A (p.Gly329=) c.1484T>A c.*372T>A (n.*372T>A) c.1047T>A (p.Gly349=) c.1209T>A (p.Gly403=) | |
| X | g.50086510T>C | CA516678409 | CLCN5 | c.1197T>C (p.Gly399=) c.447T>C (p.Gly149=) c.987T>C (p.Gly329=) c.1484T>C c.*372T>C (n.*372T>C) c.1047T>C (p.Gly349=) c.1209T>C (p.Gly403=) | |
| X | g.50086510T>G | CA516678410 | CLCN5 | c.1197T>G (p.Gly399=) c.447T>G (p.Gly149=) c.987T>G (p.Gly329=) c.1484T>G c.*372T>G (n.*372T>G) c.1047T>G (p.Gly349=) c.1209T>G (p.Gly403=) | |
| X | g.50086511G>A | CA413185405 | CLCN5 | c.1198G>A (p.Gly400Ser) c.448G>A (p.Gly150Ser) c.988G>A (p.Gly330Ser) c.1485G>A c.*373G>A (n.*373G>A) c.1048G>A (p.Gly350Ser) c.1210G>A (p.Gly404Ser) | |
| X | g.50086511G>C | CA413185403 | CLCN5 | c.1198G>C (p.Gly400Arg) c.448G>C (p.Gly150Arg) c.988G>C (p.Gly330Arg) c.1485G>C c.*373G>C (n.*373G>C) c.1048G>C (p.Gly350Arg) c.1210G>C (p.Gly404Arg) | |
| X | g.50086511G>T | CA413185404 | CLCN5 | c.1198G>T (p.Gly400Cys) c.448G>T (p.Gly150Cys) c.988G>T (p.Gly330Cys) c.1485G>T c.*373G>T (n.*373G>T) c.1048G>T (p.Gly350Cys) c.1210G>T (p.Gly404Cys) |