| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.24081405_24081433delinsTGCAGCCGCTTGGAGCGACAGGCCTGCGC | CA2123777577 | NRL | c.517_545delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala173=) c.100_128delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala34=) c.616_644delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala206=) c.301_329delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala101=) c.202_230delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala68=) c.823_851delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala275=) c.508_536delinsGCGCAGGCCTGTCGCTCCAAGCGGCTGCA (p.Ala170=) | |
| 14 | g.24081407_24081434del | CA613319062 | NRL | c.517_544del (p.Ala173SerfsTer?) c.100_127del (p.Ala34SerfsTer?) c.616_643del (p.Ala206SerfsTer?) c.301_328del (p.Ala101SerfsTer?) c.202_229del (p.Ala68SerfsTer?) c.823_850del (p.Ala275SerfsTer?) c.508_535del (p.Ala170SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081410C>A | CA485775825 | NRL | c.540G>T (p.Arg180=) c.123G>T (p.Arg41=) c.639G>T (p.Arg213=) c.324G>T (p.Arg108=) c.225G>T (p.Arg75=) c.846G>T (p.Arg282=) c.531G>T (p.Arg177=) | |
| 14 | g.24081410C= | CA2123777599 | NRL | c.540G= (p.Arg180=) c.123G= (p.Arg41=) c.639G= (p.Arg213=) c.324G= (p.Arg108=) c.225G= (p.Arg75=) c.846G= (p.Arg282=) c.531G= (p.Arg177=) | |
| 14 | g.24081410C>G | CA485775826 | NRL | c.540G>C (p.Arg180=) c.123G>C (p.Arg41=) c.639G>C (p.Arg213=) c.324G>C (p.Arg108=) c.225G>C (p.Arg75=) c.846G>C (p.Arg282=) c.531G>C (p.Arg177=) | |
| 14 | g.24081410C>T | CA485775827 | NRL | c.540G>A (p.Arg180=) c.123G>A (p.Arg41=) c.639G>A (p.Arg213=) c.324G>A (p.Arg108=) c.225G>A (p.Arg75=) c.846G>A (p.Arg282=) c.531G>A (p.Arg177=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081410_24081411insG | CA2123777606 | NRL | c.539_540insC (p.Leu181AlafsTer?) c.122_123insC (p.Leu42AlafsTer?) c.638_639insC (p.Leu214AlafsTer?) c.323_324insC (p.Leu109AlafsTer?) c.224_225insC (p.Leu76AlafsTer?) c.845_846insC (p.Leu283AlafsTer?) c.530_531insC (p.Leu178AlafsTer?) | ClinVar dbSNP |
| 14 | g.24081411C>A | CA389277640 | NRL | c.539G>T (p.Arg180Leu) c.122G>T (p.Arg41Leu) c.638G>T (p.Arg213Leu) c.323G>T (p.Arg108Leu) c.224G>T (p.Arg75Leu) c.845G>T (p.Arg282Leu) c.530G>T (p.Arg177Leu) | |
| 14 | g.24081411C= | CA2123777607 | NRL | c.539G= (p.Arg180=) c.122G= (p.Arg41=) c.638G= (p.Arg213=) c.323G= (p.Arg108=) c.224G= (p.Arg75=) c.845G= (p.Arg282=) c.530G= (p.Arg177=) | |
| 14 | g.24081411C>G | CA389277645 | NRL | c.539G>C (p.Arg180Pro) c.122G>C (p.Arg41Pro) c.638G>C (p.Arg213Pro) c.323G>C (p.Arg108Pro) c.224G>C (p.Arg75Pro) c.845G>C (p.Arg282Pro) c.530G>C (p.Arg177Pro) | gnomAD v4 |
| 14 | g.24081411C>T | CA389277662 | NRL | c.539G>A (p.Arg180Gln) c.122G>A (p.Arg41Gln) c.638G>A (p.Arg213Gln) c.323G>A (p.Arg108Gln) c.224G>A (p.Arg75Gln) c.845G>A (p.Arg282Gln) c.530G>A (p.Arg177Gln) | dbSNP |
| 14 | g.24081412G>A | CA257868082 | NRL | c.538C>T (p.Arg180Trp) c.121C>T (p.Arg41Trp) c.637C>T (p.Arg213Trp) c.322C>T (p.Arg108Trp) c.223C>T (p.Arg75Trp) c.844C>T (p.Arg282Trp) c.529C>T (p.Arg177Trp) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081412G>C | CA389277668 | NRL | c.538C>G (p.Arg180Gly) c.121C>G (p.Arg41Gly) c.637C>G (p.Arg213Gly) c.322C>G (p.Arg108Gly) c.223C>G (p.Arg75Gly) c.844C>G (p.Arg282Gly) c.529C>G (p.Arg177Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081412G= | CA2123777612 | NRL | c.538C= (p.Arg180=) c.121C= (p.Arg41=) c.637C= (p.Arg213=) c.322C= (p.Arg108=) c.223C= (p.Arg75=) c.844C= (p.Arg282=) c.529C= (p.Arg177=) | |
| 14 | g.24081412G>T | CA485775833 | NRL | c.538C>A (p.Arg180=) c.121C>A (p.Arg41=) c.637C>A (p.Arg213=) c.322C>A (p.Arg108=) c.223C>A (p.Arg75=) c.844C>A (p.Arg282=) c.529C>A (p.Arg177=) | gnomAD v4 |
| 14 | g.24081412_24081418delinsGCTTGGA | CA2123777611 | NRL | c.532_538delinsTCCAAGC (p.Ser178=) c.115_121delinsTCCAAGC (p.Ser39=) c.631_637delinsTCCAAGC (p.Ser211=) c.316_322delinsTCCAAGC (p.Ser106=) c.217_223delinsTCCAAGC (p.Ser73=) c.838_844delinsTCCAAGC (p.Ser280=) c.523_529delinsTCCAAGC (p.Ser175=) | |
| 14 | g.24081413del | CA2573149789 | NRL | c.537del (p.Lys179AsnfsTer?) c.120del (p.Lys40AsnfsTer?) c.636del (p.Lys212AsnfsTer?) c.321del (p.Lys107AsnfsTer?) c.222del (p.Lys74AsnfsTer?) c.843del (p.Lys281AsnfsTer?) c.528del (p.Lys176AsnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081413C>A | CA389277671 | NRL | c.537G>T (p.Lys179Asn) c.120G>T (p.Lys40Asn) c.636G>T (p.Lys212Asn) c.321G>T (p.Lys107Asn) c.222G>T (p.Lys74Asn) c.843G>T (p.Lys281Asn) c.528G>T (p.Lys176Asn) | gnomAD v4 |
| 14 | g.24081413C>G | CA389277672 | NRL | c.537G>C (p.Lys179Asn) c.120G>C (p.Lys40Asn) c.636G>C (p.Lys212Asn) c.321G>C (p.Lys107Asn) c.222G>C (p.Lys74Asn) c.843G>C (p.Lys281Asn) c.528G>C (p.Lys176Asn) | |
| 14 | g.24081413C>T | CA485775836 | NRL | c.537G>A (p.Lys179=) c.120G>A (p.Lys40=) c.636G>A (p.Lys212=) c.321G>A (p.Lys107=) c.222G>A (p.Lys74=) c.843G>A (p.Lys281=) c.528G>A (p.Lys176=) | gnomAD v4 |
| 14 | g.24081413_24081418del | CA2123777617 | NRL | c.532_537del (p.Ser178_Lys179del) c.115_120del (p.Ser39_Lys40del) c.631_636del (p.Ser211_Lys212del) c.316_321del (p.Ser106_Lys107del) c.217_222del (p.Ser73_Lys74del) c.838_843del (p.Ser280_Lys281del) c.523_528del (p.Ser175_Lys176del) | ClinVar dbSNP |
| 14 | g.24081414T>A | CA389277673 | NRL | c.536A>T (p.Lys179Met) c.119A>T (p.Lys40Met) c.635A>T (p.Lys212Met) c.320A>T (p.Lys107Met) c.221A>T (p.Lys74Met) c.842A>T (p.Lys281Met) c.527A>T (p.Lys176Met) | |
| 14 | g.24081414T>C | CA389277677 | NRL | c.536A>G (p.Lys179Arg) c.119A>G (p.Lys40Arg) c.635A>G (p.Lys212Arg) c.320A>G (p.Lys107Arg) c.221A>G (p.Lys74Arg) c.842A>G (p.Lys281Arg) c.527A>G (p.Lys176Arg) | |
| 14 | g.24081414T>G | CA389277681 | NRL | c.536A>C (p.Lys179Thr) c.119A>C (p.Lys40Thr) c.635A>C (p.Lys212Thr) c.320A>C (p.Lys107Thr) c.221A>C (p.Lys74Thr) c.842A>C (p.Lys281Thr) c.527A>C (p.Lys176Thr) | |
| 14 | g.24081415T>A | CA389277686 | NRL | c.535A>T (p.Lys179Ter) c.118A>T (p.Lys40Ter) c.634A>T (p.Lys212Ter) c.319A>T (p.Lys107Ter) c.220A>T (p.Lys74Ter) c.841A>T (p.Lys281Ter) c.526A>T (p.Lys176Ter) | |
| 14 | g.24081415T>C | CA389277692 | NRL | c.535A>G (p.Lys179Glu) c.118A>G (p.Lys40Glu) c.634A>G (p.Lys212Glu) c.319A>G (p.Lys107Glu) c.220A>G (p.Lys74Glu) c.841A>G (p.Lys281Glu) c.526A>G (p.Lys176Glu) | gnomAD v4 |
| 14 | g.24081415T>G | CA389277697 | NRL | c.535A>C (p.Lys179Gln) c.118A>C (p.Lys40Gln) c.634A>C (p.Lys212Gln) c.319A>C (p.Lys107Gln) c.220A>C (p.Lys74Gln) c.841A>C (p.Lys281Gln) c.526A>C (p.Lys176Gln) | ClinVar gnomAD v4 |
| 14 | g.24081416G>A | CA485775837 | NRL | c.534C>T (p.Ser178=) c.117C>T (p.Ser39=) c.633C>T (p.Ser211=) c.318C>T (p.Ser106=) c.219C>T (p.Ser73=) c.840C>T (p.Ser280=) c.525C>T (p.Ser175=) | dbSNP |
| 14 | g.24081416G>C | CA485775838 | NRL | c.534C>G (p.Ser178=) c.117C>G (p.Ser39=) c.633C>G (p.Ser211=) c.318C>G (p.Ser106=) c.219C>G (p.Ser73=) c.840C>G (p.Ser280=) c.525C>G (p.Ser175=) | |
| 14 | g.24081416G>T | CA485775839 | NRL | c.534C>A (p.Ser178=) c.117C>A (p.Ser39=) c.633C>A (p.Ser211=) c.318C>A (p.Ser106=) c.219C>A (p.Ser73=) c.840C>A (p.Ser280=) c.525C>A (p.Ser175=) | |
| 14 | g.24081417G>A | CA389277730 | NRL | c.533C>T (p.Ser178Phe) c.116C>T (p.Ser39Phe) c.632C>T (p.Ser211Phe) c.317C>T (p.Ser106Phe) c.218C>T (p.Ser73Phe) c.839C>T (p.Ser280Phe) c.524C>T (p.Ser175Phe) | |
| 14 | g.24081417G>C | CA389277709 | NRL | c.533C>G (p.Ser178Cys) c.116C>G (p.Ser39Cys) c.632C>G (p.Ser211Cys) c.317C>G (p.Ser106Cys) c.218C>G (p.Ser73Cys) c.839C>G (p.Ser280Cys) c.524C>G (p.Ser175Cys) | gnomAD v4 |
| 14 | g.24081417G>T | CA389277713 | NRL | c.533C>A (p.Ser178Tyr) c.116C>A (p.Ser39Tyr) c.632C>A (p.Ser211Tyr) c.317C>A (p.Ser106Tyr) c.218C>A (p.Ser73Tyr) c.839C>A (p.Ser280Tyr) c.524C>A (p.Ser175Tyr) | |
| 14 | g.24081418A>C | CA389277736 | NRL | c.532T>G (p.Ser178Ala) c.115T>G (p.Ser39Ala) c.631T>G (p.Ser211Ala) c.316T>G (p.Ser106Ala) c.217T>G (p.Ser73Ala) c.838T>G (p.Ser280Ala) c.523T>G (p.Ser175Ala) | |
| 14 | g.24081418A>G | CA389277738 | NRL | c.532T>C (p.Ser178Pro) c.115T>C (p.Ser39Pro) c.631T>C (p.Ser211Pro) c.316T>C (p.Ser106Pro) c.217T>C (p.Ser73Pro) c.838T>C (p.Ser280Pro) c.523T>C (p.Ser175Pro) | gnomAD v4 |
| 14 | g.24081418A>T | CA389277740 | NRL | c.532T>A (p.Ser178Thr) c.115T>A (p.Ser39Thr) c.631T>A (p.Ser211Thr) c.316T>A (p.Ser106Thr) c.217T>A (p.Ser73Thr) c.838T>A (p.Ser280Thr) c.523T>A (p.Ser175Thr) | |
| 14 | g.24081419G>A | CA485775847 | NRL | c.531C>T (p.Arg177=) c.114C>T (p.Arg38=) c.630C>T (p.Arg210=) c.315C>T (p.Arg105=) c.216C>T (p.Arg72=) c.837C>T (p.Arg279=) c.522C>T (p.Arg174=) | |
| 14 | g.24081419G>C | CA485775848 | NRL | c.531C>G (p.Arg177=) c.114C>G (p.Arg38=) c.630C>G (p.Arg210=) c.315C>G (p.Arg105=) c.216C>G (p.Arg72=) c.837C>G (p.Arg279=) c.522C>G (p.Arg174=) | |
| 14 | g.24081419G= | CA2123777621 | NRL | c.531C= (p.Arg177=) c.114C= (p.Arg38=) c.630C= (p.Arg210=) c.315C= (p.Arg105=) c.216C= (p.Arg72=) c.837C= (p.Arg279=) c.522C= (p.Arg174=) | |
| 14 | g.24081419G>T | CA257868086 | NRL | c.531C>A (p.Arg177=) c.114C>A (p.Arg38=) c.630C>A (p.Arg210=) c.315C>A (p.Arg105=) c.216C>A (p.Arg72=) c.837C>A (p.Arg279=) c.522C>A (p.Arg174=) | dbSNP |
| 14 | g.24081420C>A | CA389277747 | NRL | c.530G>T (p.Arg177Leu) c.113G>T (p.Arg38Leu) c.629G>T (p.Arg210Leu) c.314G>T (p.Arg105Leu) c.215G>T (p.Arg72Leu) c.836G>T (p.Arg279Leu) c.521G>T (p.Arg174Leu) | gnomAD v4 |
| 14 | g.24081420C>G | CA389277772 | NRL | c.530G>C (p.Arg177Pro) c.113G>C (p.Arg38Pro) c.629G>C (p.Arg210Pro) c.314G>C (p.Arg105Pro) c.215G>C (p.Arg72Pro) c.836G>C (p.Arg279Pro) c.521G>C (p.Arg174Pro) | |
| 14 | g.24081420C>T | CA389277774 | NRL | c.530G>A (p.Arg177His) c.113G>A (p.Arg38His) c.629G>A (p.Arg210His) c.314G>A (p.Arg105His) c.215G>A (p.Arg72His) c.836G>A (p.Arg279His) c.521G>A (p.Arg174His) | |
| 14 | g.24081421G>A | CA389277779 | NRL | c.529C>T (p.Arg177Cys) c.112C>T (p.Arg38Cys) c.628C>T (p.Arg210Cys) c.313C>T (p.Arg105Cys) c.214C>T (p.Arg72Cys) c.835C>T (p.Arg279Cys) c.520C>T (p.Arg174Cys) | |
| 14 | g.24081421G>C | CA389277780 | NRL | c.529C>G (p.Arg177Gly) c.112C>G (p.Arg38Gly) c.628C>G (p.Arg210Gly) c.313C>G (p.Arg105Gly) c.214C>G (p.Arg72Gly) c.835C>G (p.Arg279Gly) c.520C>G (p.Arg174Gly) | |
| 14 | g.24081421G>T | CA389277781 | NRL | c.529C>A (p.Arg177Ser) c.112C>A (p.Arg38Ser) c.628C>A (p.Arg210Ser) c.313C>A (p.Arg105Ser) c.214C>A (p.Arg72Ser) c.835C>A (p.Arg279Ser) c.520C>A (p.Arg174Ser) | gnomAD v4 |
| 14 | g.24081422A>C | CA389277782 | NRL | c.528T>G (p.Cys176Trp) c.111T>G (p.Cys37Trp) c.627T>G (p.Cys209Trp) c.312T>G (p.Cys104Trp) c.213T>G (p.Cys71Trp) c.834T>G (p.Cys278Trp) c.519T>G (p.Cys173Trp) | |
| 14 | g.24081422A>G | CA485775853 | NRL | c.528T>C (p.Cys176=) c.111T>C (p.Cys37=) c.627T>C (p.Cys209=) c.312T>C (p.Cys104=) c.213T>C (p.Cys71=) c.834T>C (p.Cys278=) c.519T>C (p.Cys173=) | |
| 14 | g.24081422A>T | CA389277783 | NRL | c.528T>A (p.Cys176Ter) c.111T>A (p.Cys37Ter) c.627T>A (p.Cys209Ter) c.312T>A (p.Cys104Ter) c.213T>A (p.Cys71Ter) c.834T>A (p.Cys278Ter) c.519T>A (p.Cys173Ter) | gnomAD v4 |
| 14 | g.24081423C>A | CA389277794 | NRL | c.527G>T (p.Cys176Phe) c.110G>T (p.Cys37Phe) c.626G>T (p.Cys209Phe) c.311G>T (p.Cys104Phe) c.212G>T (p.Cys71Phe) c.833G>T (p.Cys278Phe) c.518G>T (p.Cys173Phe) | |
| 14 | g.24081423C= | CA2123777625 | NRL | c.527G= (p.Cys176=) c.110G= (p.Cys37=) c.626G= (p.Cys209=) c.311G= (p.Cys104=) c.212G= (p.Cys71=) c.833G= (p.Cys278=) c.518G= (p.Cys173=) | |
| 14 | g.24081423C>G | CA389277789 | NRL | c.527G>C (p.Cys176Ser) c.110G>C (p.Cys37Ser) c.626G>C (p.Cys209Ser) c.311G>C (p.Cys104Ser) c.212G>C (p.Cys71Ser) c.833G>C (p.Cys278Ser) c.518G>C (p.Cys173Ser) | |
| 14 | g.24081423C>T | CA389277785 | NRL | c.527G>A (p.Cys176Tyr) c.110G>A (p.Cys37Tyr) c.626G>A (p.Cys209Tyr) c.311G>A (p.Cys104Tyr) c.212G>A (p.Cys71Tyr) c.833G>A (p.Cys278Tyr) c.518G>A (p.Cys173Tyr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081424A>C | CA389277800 | NRL | c.526T>G (p.Cys176Gly) c.109T>G (p.Cys37Gly) c.625T>G (p.Cys209Gly) c.310T>G (p.Cys104Gly) c.211T>G (p.Cys71Gly) c.832T>G (p.Cys278Gly) c.517T>G (p.Cys173Gly) | |
| 14 | g.24081424A>G | CA389277808 | NRL | c.526T>C (p.Cys176Arg) c.109T>C (p.Cys37Arg) c.625T>C (p.Cys209Arg) c.310T>C (p.Cys104Arg) c.211T>C (p.Cys71Arg) c.832T>C (p.Cys278Arg) c.517T>C (p.Cys173Arg) | gnomAD v4 |
| 14 | g.24081424A>T | CA389277804 | NRL | c.526T>A (p.Cys176Ser) c.109T>A (p.Cys37Ser) c.625T>A (p.Cys209Ser) c.310T>A (p.Cys104Ser) c.211T>A (p.Cys71Ser) c.832T>A (p.Cys278Ser) c.517T>A (p.Cys173Ser) | |
| 14 | g.24081425G>A | CA485775857 | NRL | c.525C>T (p.Ala175=) c.108C>T (p.Ala36=) c.624C>T (p.Ala208=) c.309C>T (p.Ala103=) c.210C>T (p.Ala70=) c.831C>T (p.Ala277=) c.516C>T (p.Ala172=) | gnomAD v4 |
| 14 | g.24081425G>C | CA485775858 | NRL | c.525C>G (p.Ala175=) c.108C>G (p.Ala36=) c.624C>G (p.Ala208=) c.309C>G (p.Ala103=) c.210C>G (p.Ala70=) c.831C>G (p.Ala277=) c.516C>G (p.Ala172=) | |
| 14 | g.24081425G>T | CA485775859 | NRL | c.525C>A (p.Ala175=) c.108C>A (p.Ala36=) c.624C>A (p.Ala208=) c.309C>A (p.Ala103=) c.210C>A (p.Ala70=) c.831C>A (p.Ala277=) c.516C>A (p.Ala172=) | dbSNP |
| 14 | g.24081426G>A | CA389277819 | NRL | c.524C>T (p.Ala175Val) c.107C>T (p.Ala36Val) c.623C>T (p.Ala208Val) c.308C>T (p.Ala103Val) c.209C>T (p.Ala70Val) c.830C>T (p.Ala277Val) c.515C>T (p.Ala172Val) | dbSNP gnomAD v4 |
| 14 | g.24081426G>C | CA389277840 | NRL | c.524C>G (p.Ala175Gly) c.107C>G (p.Ala36Gly) c.623C>G (p.Ala208Gly) c.308C>G (p.Ala103Gly) c.209C>G (p.Ala70Gly) c.830C>G (p.Ala277Gly) c.515C>G (p.Ala172Gly) | |
| 14 | g.24081426G= | CA2123777634 | NRL | c.524C= (p.Ala175=) c.107C= (p.Ala36=) c.623C= (p.Ala208=) c.308C= (p.Ala103=) c.209C= (p.Ala70=) c.830C= (p.Ala277=) c.515C= (p.Ala172=) | |
| 14 | g.24081426G>T | CA389277823 | NRL | c.524C>A (p.Ala175Asp) c.107C>A (p.Ala36Asp) c.623C>A (p.Ala208Asp) c.308C>A (p.Ala103Asp) c.209C>A (p.Ala70Asp) c.830C>A (p.Ala277Asp) c.515C>A (p.Ala172Asp) | gnomAD v4 |
| 14 | g.24081426_24081427insT | CA2624298439 | NRL | c.523_524insA (p.Ala175AspfsTer?) c.106_107insA (p.Ala36AspfsTer?) c.622_623insA (p.Ala208AspfsTer?) c.307_308insA (p.Ala103AspfsTer?) c.208_209insA (p.Ala70AspfsTer?) c.829_830insA (p.Ala277AspfsTer?) c.514_515insA (p.Ala172AspfsTer?) | gnomAD v4 |
| 14 | g.24081427C>A | CA389277847 | NRL | c.523G>T (p.Ala175Ser) c.106G>T (p.Ala36Ser) c.622G>T (p.Ala208Ser) c.307G>T (p.Ala103Ser) c.208G>T (p.Ala70Ser) c.829G>T (p.Ala277Ser) c.514G>T (p.Ala172Ser) | |
| 14 | g.24081427C>G | CA389277857 | NRL | c.523G>C (p.Ala175Pro) c.106G>C (p.Ala36Pro) c.622G>C (p.Ala208Pro) c.307G>C (p.Ala103Pro) c.208G>C (p.Ala70Pro) c.829G>C (p.Ala277Pro) c.514G>C (p.Ala172Pro) | |
| 14 | g.24081427C>T | CA389277850 | NRL | c.523G>A (p.Ala175Thr) c.106G>A (p.Ala36Thr) c.622G>A (p.Ala208Thr) c.307G>A (p.Ala103Thr) c.208G>A (p.Ala70Thr) c.829G>A (p.Ala277Thr) c.514G>A (p.Ala172Thr) | |
| 14 | g.24081428C>A | CA389277859 | NRL | c.522G>T (p.Gln174His) c.105G>T (p.Gln35His) c.621G>T (p.Gln207His) c.306G>T (p.Gln102His) c.207G>T (p.Gln69His) c.828G>T (p.Gln276His) c.513G>T (p.Gln171His) | |
| 14 | g.24081428C>G | CA389277862 | NRL | c.522G>C (p.Gln174His) c.105G>C (p.Gln35His) c.621G>C (p.Gln207His) c.306G>C (p.Gln102His) c.207G>C (p.Gln69His) c.828G>C (p.Gln276His) c.513G>C (p.Gln171His) | dbSNP |
| 14 | g.24081428C>T | CA485775865 | NRL | c.522G>A (p.Gln174=) c.105G>A (p.Gln35=) c.621G>A (p.Gln207=) c.306G>A (p.Gln102=) c.207G>A (p.Gln69=) c.828G>A (p.Gln276=) c.513G>A (p.Gln171=) | |
| 14 | g.24081429T>A | CA389277866 | NRL | c.521A>T (p.Gln174Leu) c.104A>T (p.Gln35Leu) c.620A>T (p.Gln207Leu) c.305A>T (p.Gln102Leu) c.206A>T (p.Gln69Leu) c.827A>T (p.Gln276Leu) c.512A>T (p.Gln171Leu) | |
| 14 | g.24081429T>C | CA257868087 | NRL | c.521A>G (p.Gln174Arg) c.104A>G (p.Gln35Arg) c.620A>G (p.Gln207Arg) c.305A>G (p.Gln102Arg) c.206A>G (p.Gln69Arg) c.827A>G (p.Gln276Arg) c.512A>G (p.Gln171Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081429T>G | CA389277880 | NRL | c.521A>C (p.Gln174Pro) c.104A>C (p.Gln35Pro) c.620A>C (p.Gln207Pro) c.305A>C (p.Gln102Pro) c.206A>C (p.Gln69Pro) c.827A>C (p.Gln276Pro) c.512A>C (p.Gln171Pro) | |
| 14 | g.24081429T= | CA2123777644 | NRL | c.521A= (p.Gln174=) c.104A= (p.Gln35=) c.620A= (p.Gln207=) c.305A= (p.Gln102=) c.206A= (p.Gln69=) c.827A= (p.Gln276=) c.512A= (p.Gln171=) | |
| 14 | g.24081429_24081439delinsTGCGCGTAGCC | CA2123777647 | NRL | c.511_521delinsGGCTACGCGCA (p.Gly171=) c.94_104delinsGGCTACGCGCA (p.Gly32=) c.610_620delinsGGCTACGCGCA (p.Gly204=) c.295_305delinsGGCTACGCGCA (p.Gly99=) c.196_206delinsGGCTACGCGCA (p.Gly66=) c.817_827delinsGGCTACGCGCA (p.Gly273=) c.502_512delinsGGCTACGCGCA (p.Gly168=) | |
| 14 | g.24081430G>A | CA389277885 | NRL | c.520C>T (p.Gln174Ter) c.103C>T (p.Gln35Ter) c.619C>T (p.Gln207Ter) c.304C>T (p.Gln102Ter) c.205C>T (p.Gln69Ter) c.826C>T (p.Gln276Ter) c.511C>T (p.Gln171Ter) | dbSNP |
| 14 | g.24081430G>C | CA389277888 | NRL | c.520C>G (p.Gln174Glu) c.103C>G (p.Gln35Glu) c.619C>G (p.Gln207Glu) c.304C>G (p.Gln102Glu) c.205C>G (p.Gln69Glu) c.826C>G (p.Gln276Glu) c.511C>G (p.Gln171Glu) | |
| 14 | g.24081430G= | CA2123777654 | NRL | c.520C= (p.Gln174=) c.103C= (p.Gln35=) c.619C= (p.Gln207=) c.304C= (p.Gln102=) c.205C= (p.Gln69=) c.826C= (p.Gln276=) c.511C= (p.Gln171=) | |
| 14 | g.24081430G>T | CA389277894 | NRL | c.520C>A (p.Gln174Lys) c.103C>A (p.Gln35Lys) c.619C>A (p.Gln207Lys) c.304C>A (p.Gln102Lys) c.205C>A (p.Gln69Lys) c.826C>A (p.Gln276Lys) c.511C>A (p.Gln171Lys) | |
| 14 | g.24081433_24081442del | CA613319063 | NRL | c.511_520del (p.Gly171ArgfsTer?) c.94_103del (p.Gly32ArgfsTer?) c.610_619del (p.Gly204ArgfsTer?) c.295_304del (p.Gly99ArgfsTer?) c.196_205del (p.Gly66ArgfsTer?) c.817_826del (p.Gly273ArgfsTer?) c.502_511del (p.Gly168ArgfsTer?) | dbSNP gnomAD v2 |
| 14 | g.24081431C>A | CA485775869 | NRL | c.519G>T (p.Ala173=) c.102G>T (p.Ala34=) c.618G>T (p.Ala206=) c.303G>T (p.Ala101=) c.204G>T (p.Ala68=) c.825G>T (p.Ala275=) c.510G>T (p.Ala170=) | |
| 14 | g.24081431C= | CA2123777660 | NRL | c.519G= (p.Ala173=) c.102G= (p.Ala34=) c.618G= (p.Ala206=) c.303G= (p.Ala101=) c.204G= (p.Ala68=) c.825G= (p.Ala275=) c.510G= (p.Ala170=) | |
| 14 | g.24081431C>G | CA485775870 | NRL | c.519G>C (p.Ala173=) c.102G>C (p.Ala34=) c.618G>C (p.Ala206=) c.303G>C (p.Ala101=) c.204G>C (p.Ala68=) c.825G>C (p.Ala275=) c.510G>C (p.Ala170=) | |
| 14 | g.24081431C>T | CA485775871 | NRL | c.519G>A (p.Ala173=) c.102G>A (p.Ala34=) c.618G>A (p.Ala206=) c.303G>A (p.Ala101=) c.204G>A (p.Ala68=) c.825G>A (p.Ala275=) c.510G>A (p.Ala170=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081432G>A | CA389277898 | NRL | c.518C>T (p.Ala173Val) c.101C>T (p.Ala34Val) c.617C>T (p.Ala206Val) c.302C>T (p.Ala101Val) c.203C>T (p.Ala68Val) c.824C>T (p.Ala275Val) c.509C>T (p.Ala170Val) | ClinVar gnomAD v4 |
| 14 | g.24081432G>C | CA389277900 | NRL | c.518C>G (p.Ala173Gly) c.101C>G (p.Ala34Gly) c.617C>G (p.Ala206Gly) c.302C>G (p.Ala101Gly) c.203C>G (p.Ala68Gly) c.824C>G (p.Ala275Gly) c.509C>G (p.Ala170Gly) | |
| 14 | g.24081432G>T | CA389277904 | NRL | c.518C>A (p.Ala173Glu) c.101C>A (p.Ala34Glu) c.617C>A (p.Ala206Glu) c.302C>A (p.Ala101Glu) c.203C>A (p.Ala68Glu) c.824C>A (p.Ala275Glu) c.509C>A (p.Ala170Glu) | |
| 14 | g.24081433C>A | CA389277907 | NRL | c.517G>T (p.Ala173Ser) c.100G>T (p.Ala34Ser) c.616G>T (p.Ala206Ser) c.301G>T (p.Ala101Ser) c.202G>T (p.Ala68Ser) c.823G>T (p.Ala275Ser) c.508G>T (p.Ala170Ser) | |
| 14 | g.24081433C= | CA2123777661 | NRL | c.517G= (p.Ala173=) c.100G= (p.Ala34=) c.616G= (p.Ala206=) c.301G= (p.Ala101=) c.202G= (p.Ala68=) c.823G= (p.Ala275=) c.508G= (p.Ala170=) | |
| 14 | g.24081433C>G | CA389277912 | NRL | c.517G>C (p.Ala173Pro) c.100G>C (p.Ala34Pro) c.616G>C (p.Ala206Pro) c.301G>C (p.Ala101Pro) c.202G>C (p.Ala68Pro) c.823G>C (p.Ala275Pro) c.508G>C (p.Ala170Pro) | gnomAD v4 |
| 14 | g.24081433C>T | CA389277909 | NRL | c.517G>A (p.Ala173Thr) c.100G>A (p.Ala34Thr) c.616G>A (p.Ala206Thr) c.301G>A (p.Ala101Thr) c.202G>A (p.Ala68Thr) c.823G>A (p.Ala275Thr) c.508G>A (p.Ala170Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081434G>A | CA7122822 | NRL | c.516C>T (p.Tyr172=) c.99C>T (p.Tyr33=) c.615C>T (p.Tyr205=) c.300C>T (p.Tyr100=) c.201C>T (p.Tyr67=) c.822C>T (p.Tyr274=) c.507C>T (p.Tyr169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081434G>C | CA389277920 | NRL | c.516C>G (p.Tyr172Ter) c.99C>G (p.Tyr33Ter) c.615C>G (p.Tyr205Ter) c.300C>G (p.Tyr100Ter) c.201C>G (p.Tyr67Ter) c.822C>G (p.Tyr274Ter) c.507C>G (p.Tyr169Ter) | gnomAD v4 |
| 14 | g.24081434G= | CA2123777664 | NRL | c.516C= (p.Tyr172=) c.99C= (p.Tyr33=) c.615C= (p.Tyr205=) c.300C= (p.Tyr100=) c.201C= (p.Tyr67=) c.822C= (p.Tyr274=) c.507C= (p.Tyr169=) | |
| 14 | g.24081434G>T | CA389277923 | NRL | c.516C>A (p.Tyr172Ter) c.99C>A (p.Tyr33Ter) c.615C>A (p.Tyr205Ter) c.300C>A (p.Tyr100Ter) c.201C>A (p.Tyr67Ter) c.822C>A (p.Tyr274Ter) c.507C>A (p.Tyr169Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081435T>A | CA389277925 | NRL | c.515A>T (p.Tyr172Phe) c.98A>T (p.Tyr33Phe) c.614A>T (p.Tyr205Phe) c.299A>T (p.Tyr100Phe) c.200A>T (p.Tyr67Phe) c.821A>T (p.Tyr274Phe) c.506A>T (p.Tyr169Phe) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081435T>C | CA389277926 | NRL | c.515A>G (p.Tyr172Cys) c.98A>G (p.Tyr33Cys) c.614A>G (p.Tyr205Cys) c.299A>G (p.Tyr100Cys) c.200A>G (p.Tyr67Cys) c.821A>G (p.Tyr274Cys) c.506A>G (p.Tyr169Cys) | gnomAD v4 |
| 14 | g.24081435T>G | CA389277928 | NRL | c.515A>C (p.Tyr172Ser) c.98A>C (p.Tyr33Ser) c.614A>C (p.Tyr205Ser) c.299A>C (p.Tyr100Ser) c.200A>C (p.Tyr67Ser) c.821A>C (p.Tyr274Ser) c.506A>C (p.Tyr169Ser) | |
| 14 | g.24081435T= | CA2123777674 | NRL | c.515A= (p.Tyr172=) c.98A= (p.Tyr33=) c.614A= (p.Tyr205=) c.299A= (p.Tyr100=) c.200A= (p.Tyr67=) c.821A= (p.Tyr274=) c.506A= (p.Tyr169=) | |
| 14 | g.24081436A= | CA2123777680 | NRL | c.514T= (p.Tyr172=) c.97T= (p.Tyr33=) c.613T= (p.Tyr205=) c.298T= (p.Tyr100=) c.199T= (p.Tyr67=) c.820T= (p.Tyr274=) c.505T= (p.Tyr169=) | |
| 14 | g.24081436A>C | CA389277931 | NRL | c.514T>G (p.Tyr172Asp) c.97T>G (p.Tyr33Asp) c.613T>G (p.Tyr205Asp) c.298T>G (p.Tyr100Asp) c.199T>G (p.Tyr67Asp) c.820T>G (p.Tyr274Asp) c.505T>G (p.Tyr169Asp) | |
| 14 | g.24081436A>G | CA257868088 | NRL | c.514T>C (p.Tyr172His) c.97T>C (p.Tyr33His) c.613T>C (p.Tyr205His) c.298T>C (p.Tyr100His) c.199T>C (p.Tyr67His) c.820T>C (p.Tyr274His) c.505T>C (p.Tyr169His) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081436A>T | CA389277959 | NRL | c.514T>A (p.Tyr172Asn) c.97T>A (p.Tyr33Asn) c.613T>A (p.Tyr205Asn) c.298T>A (p.Tyr100Asn) c.199T>A (p.Tyr67Asn) c.820T>A (p.Tyr274Asn) c.505T>A (p.Tyr169Asn) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081436_24081438del | CA2624298494 | NRL | c.512_514del (p.Gly171_Tyr172delinsAsp) c.95_97del (p.Gly32_Tyr33delinsAsp) c.611_613del (p.Gly204_Tyr205delinsAsp) c.296_298del (p.Gly99_Tyr100delinsAsp) c.197_199del (p.Gly66_Tyr67delinsAsp) c.818_820del (p.Gly273_Tyr274delinsAsp) c.503_505del (p.Gly168_Tyr169delinsAsp) | gnomAD v4 |
| 14 | g.24081437G>A | CA485775883 | NRL | c.513C>T (p.Gly171=) c.96C>T (p.Gly32=) c.612C>T (p.Gly204=) c.297C>T (p.Gly99=) c.198C>T (p.Gly66=) c.819C>T (p.Gly273=) c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081437G>C | CA485775884 | NRL | c.513C>G (p.Gly171=) c.96C>G (p.Gly32=) c.612C>G (p.Gly204=) c.297C>G (p.Gly99=) c.198C>G (p.Gly66=) c.819C>G (p.Gly273=) c.504C>G (p.Gly168=) | |
| 14 | g.24081437G= | CA2123777688 | NRL | c.513C= (p.Gly171=) c.96C= (p.Gly32=) c.612C= (p.Gly204=) c.297C= (p.Gly99=) c.198C= (p.Gly66=) c.819C= (p.Gly273=) c.504C= (p.Gly168=) | |
| 14 | g.24081437G>T | CA485775885 | NRL | c.513C>A (p.Gly171=) c.96C>A (p.Gly32=) c.612C>A (p.Gly204=) c.297C>A (p.Gly99=) c.198C>A (p.Gly66=) c.819C>A (p.Gly273=) c.504C>A (p.Gly168=) | gnomAD v4 |
| 14 | g.24081438C>A | CA389277980 | NRL | c.512G>T (p.Gly171Val) c.95G>T (p.Gly32Val) c.611G>T (p.Gly204Val) c.296G>T (p.Gly99Val) c.197G>T (p.Gly66Val) c.818G>T (p.Gly273Val) c.503G>T (p.Gly168Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.24081438C= | CA2123777690 | NRL | c.512G= (p.Gly171=) c.95G= (p.Gly32=) c.611G= (p.Gly204=) c.296G= (p.Gly99=) c.197G= (p.Gly66=) c.818G= (p.Gly273=) c.503G= (p.Gly168=) | |
| 14 | g.24081438C>G | CA389277984 | NRL | c.512G>C (p.Gly171Ala) c.95G>C (p.Gly32Ala) c.611G>C (p.Gly204Ala) c.296G>C (p.Gly99Ala) c.197G>C (p.Gly66Ala) c.818G>C (p.Gly273Ala) c.503G>C (p.Gly168Ala) | |
| 14 | g.24081438C>T | CA389277968 | NRL | c.512G>A (p.Gly171Asp) c.95G>A (p.Gly32Asp) c.611G>A (p.Gly204Asp) c.296G>A (p.Gly99Asp) c.197G>A (p.Gly66Asp) c.818G>A (p.Gly273Asp) c.503G>A (p.Gly168Asp) | |
| 14 | g.24081439C>A | CA389277986 | NRL | c.511G>T (p.Gly171Cys) c.94G>T (p.Gly32Cys) c.610G>T (p.Gly204Cys) c.295G>T (p.Gly99Cys) c.196G>T (p.Gly66Cys) c.817G>T (p.Gly273Cys) c.502G>T (p.Gly168Cys) | |
| 14 | g.24081439C= | CA2123777695 | NRL | c.511G= (p.Gly171=) c.94G= (p.Gly32=) c.610G= (p.Gly204=) c.295G= (p.Gly99=) c.196G= (p.Gly66=) c.817G= (p.Gly273=) c.502G= (p.Gly168=) | |
| 14 | g.24081439C>G | CA389277988 | NRL | c.511G>C (p.Gly171Arg) c.94G>C (p.Gly32Arg) c.610G>C (p.Gly204Arg) c.295G>C (p.Gly99Arg) c.196G>C (p.Gly66Arg) c.817G>C (p.Gly273Arg) c.502G>C (p.Gly168Arg) | |
| 14 | g.24081439C>T | CA389277990 | NRL | c.511G>A (p.Gly171Ser) c.94G>A (p.Gly32Ser) c.610G>A (p.Gly204Ser) c.295G>A (p.Gly99Ser) c.196G>A (p.Gly66Ser) c.817G>A (p.Gly273Ser) c.502G>A (p.Gly168Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081440G>A | CA485775887 | NRL | c.510C>T (p.Arg170=) c.93C>T (p.Arg31=) c.609C>T (p.Arg203=) c.294C>T (p.Arg98=) c.195C>T (p.Arg65=) c.816C>T (p.Arg272=) c.501C>T (p.Arg167=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081440G>C | CA485775889 | NRL | c.510C>G (p.Arg170=) c.93C>G (p.Arg31=) c.609C>G (p.Arg203=) c.294C>G (p.Arg98=) c.195C>G (p.Arg65=) c.816C>G (p.Arg272=) c.501C>G (p.Arg167=) | |
| 14 | g.24081440G= | CA2123777698 | NRL | c.510C= (p.Arg170=) c.93C= (p.Arg31=) c.609C= (p.Arg203=) c.294C= (p.Arg98=) c.195C= (p.Arg65=) c.816C= (p.Arg272=) c.501C= (p.Arg167=) | |
| 14 | g.24081440G>T | CA485775891 | NRL | c.510C>A (p.Arg170=) c.93C>A (p.Arg31=) c.609C>A (p.Arg203=) c.294C>A (p.Arg98=) c.195C>A (p.Arg65=) c.816C>A (p.Arg272=) c.501C>A (p.Arg167=) | |
| 14 | g.24081441C>A | CA389277993 | NRL | c.509G>T (p.Arg170Leu) c.92G>T (p.Arg31Leu) c.608G>T (p.Arg203Leu) c.293G>T (p.Arg98Leu) c.194G>T (p.Arg65Leu) c.815G>T (p.Arg272Leu) c.500G>T (p.Arg167Leu) | |
| 14 | g.24081441C>G | CA389277996 | NRL | c.509G>C (p.Arg170Pro) c.92G>C (p.Arg31Pro) c.608G>C (p.Arg203Pro) c.293G>C (p.Arg98Pro) c.194G>C (p.Arg65Pro) c.815G>C (p.Arg272Pro) c.500G>C (p.Arg167Pro) | |
| 14 | g.24081441C>T | CA389277997 | NRL | c.509G>A (p.Arg170His) c.92G>A (p.Arg31His) c.608G>A (p.Arg203His) c.293G>A (p.Arg98His) c.194G>A (p.Arg65His) c.815G>A (p.Arg272His) c.500G>A (p.Arg167His) | gnomAD v4 |
| 14 | g.24081442G>A | CA389277999 | NRL | c.508C>T (p.Arg170Cys) c.91C>T (p.Arg31Cys) c.607C>T (p.Arg203Cys) c.292C>T (p.Arg98Cys) c.193C>T (p.Arg65Cys) c.814C>T (p.Arg272Cys) c.499C>T (p.Arg167Cys) | |
| 14 | g.24081442G>C | CA389278000 | NRL | c.508C>G (p.Arg170Gly) c.91C>G (p.Arg31Gly) c.607C>G (p.Arg203Gly) c.292C>G (p.Arg98Gly) c.193C>G (p.Arg65Gly) c.814C>G (p.Arg272Gly) c.499C>G (p.Arg167Gly) | |
| 14 | g.24081442G= | CA2123777702 | NRL | c.508C= (p.Arg170=) c.91C= (p.Arg31=) c.607C= (p.Arg203=) c.292C= (p.Arg98=) c.193C= (p.Arg65=) c.814C= (p.Arg272=) c.499C= (p.Arg167=) | |
| 14 | g.24081442G>T | CA389278006 | NRL | c.508C>A (p.Arg170Ser) c.91C>A (p.Arg31Ser) c.607C>A (p.Arg203Ser) c.292C>A (p.Arg98Ser) c.193C>A (p.Arg65Ser) c.814C>A (p.Arg272Ser) c.499C>A (p.Arg167Ser) | dbSNP gnomAD v4 |
| 14 | g.24081443G>A | CA485775896 | NRL | c.507C>T (p.Asn169=) c.90C>T (p.Asn30=) c.606C>T (p.Asn202=) c.291C>T (p.Asn97=) c.192C>T (p.Asn64=) c.813C>T (p.Asn271=) c.498C>T (p.Asn166=) | gnomAD v4 |
| 14 | g.24081443G>C | CA389278009 | NRL | c.507C>G (p.Asn169Lys) c.90C>G (p.Asn30Lys) c.606C>G (p.Asn202Lys) c.291C>G (p.Asn97Lys) c.192C>G (p.Asn64Lys) c.813C>G (p.Asn271Lys) c.498C>G (p.Asn166Lys) | |
| 14 | g.24081443G>T | CA389278010 | NRL | c.507C>A (p.Asn169Lys) c.90C>A (p.Asn30Lys) c.606C>A (p.Asn202Lys) c.291C>A (p.Asn97Lys) c.192C>A (p.Asn64Lys) c.813C>A (p.Asn271Lys) c.498C>A (p.Asn166Lys) | |
| 14 | g.24081444T>A | CA389278014 | NRL | c.506A>T (p.Asn169Ile) c.89A>T (p.Asn30Ile) c.605A>T (p.Asn202Ile) c.290A>T (p.Asn97Ile) c.191A>T (p.Asn64Ile) c.812A>T (p.Asn271Ile) c.497A>T (p.Asn166Ile) | |
| 14 | g.24081444T>C | CA389278016 | NRL | c.506A>G (p.Asn169Ser) c.89A>G (p.Asn30Ser) c.605A>G (p.Asn202Ser) c.290A>G (p.Asn97Ser) c.191A>G (p.Asn64Ser) c.812A>G (p.Asn271Ser) c.497A>G (p.Asn166Ser) | |
| 14 | g.24081444T>G | CA389278011 | NRL | c.506A>C (p.Asn169Thr) c.89A>C (p.Asn30Thr) c.605A>C (p.Asn202Thr) c.290A>C (p.Asn97Thr) c.191A>C (p.Asn64Thr) c.812A>C (p.Asn271Thr) c.497A>C (p.Asn166Thr) | |
| 14 | g.24081445T>A | CA389278021 | NRL | c.505A>T (p.Asn169Tyr) c.88A>T (p.Asn30Tyr) c.604A>T (p.Asn202Tyr) c.289A>T (p.Asn97Tyr) c.190A>T (p.Asn64Tyr) c.811A>T (p.Asn271Tyr) c.496A>T (p.Asn166Tyr) | |
| 14 | g.24081445T>C | CA389278023 | NRL | c.505A>G (p.Asn169Asp) c.88A>G (p.Asn30Asp) c.604A>G (p.Asn202Asp) c.289A>G (p.Asn97Asp) c.190A>G (p.Asn64Asp) c.811A>G (p.Asn271Asp) c.496A>G (p.Asn166Asp) | |
| 14 | g.24081445T>G | CA389278024 | NRL | c.505A>C (p.Asn169His) c.88A>C (p.Asn30His) c.604A>C (p.Asn202His) c.289A>C (p.Asn97His) c.190A>C (p.Asn64His) c.811A>C (p.Asn271His) c.496A>C (p.Asn166His) | |
| 14 | g.24081446C>A | CA389278025 | NRL | c.504G>T (p.Lys168Asn) c.87G>T (p.Lys29Asn) c.603G>T (p.Lys201Asn) c.288G>T (p.Lys96Asn) c.189G>T (p.Lys63Asn) c.810G>T (p.Lys270Asn) c.495G>T (p.Lys165Asn) | gnomAD v4 |
| 14 | g.24081446C>G | CA389278027 | NRL | c.504G>C (p.Lys168Asn) c.87G>C (p.Lys29Asn) c.603G>C (p.Lys201Asn) c.288G>C (p.Lys96Asn) c.189G>C (p.Lys63Asn) c.810G>C (p.Lys270Asn) c.495G>C (p.Lys165Asn) | |
| 14 | g.24081446C>T | CA485775900 | NRL | c.504G>A (p.Lys168=) c.87G>A (p.Lys29=) c.603G>A (p.Lys201=) c.288G>A (p.Lys96=) c.189G>A (p.Lys63=) c.810G>A (p.Lys270=) c.495G>A (p.Lys165=) | gnomAD v4 |
| 14 | g.24081447T>A | CA389278040 | NRL | c.503A>T (p.Lys168Met) c.86A>T (p.Lys29Met) c.602A>T (p.Lys201Met) c.287A>T (p.Lys96Met) c.188A>T (p.Lys63Met) c.809A>T (p.Lys270Met) c.494A>T (p.Lys165Met) | |
| 14 | g.24081447T>C | CA389278036 | NRL | c.503A>G (p.Lys168Arg) c.86A>G (p.Lys29Arg) c.602A>G (p.Lys201Arg) c.287A>G (p.Lys96Arg) c.188A>G (p.Lys63Arg) c.809A>G (p.Lys270Arg) c.494A>G (p.Lys165Arg) | dbSNP |
| 14 | g.24081447T>G | CA389278038 | NRL | c.503A>C (p.Lys168Thr) c.86A>C (p.Lys29Thr) c.602A>C (p.Lys201Thr) c.287A>C (p.Lys96Thr) c.188A>C (p.Lys63Thr) c.809A>C (p.Lys270Thr) c.494A>C (p.Lys165Thr) | dbSNP |
| 14 | g.24081447T= | CA2123777706 | NRL | c.503A= (p.Lys168=) c.86A= (p.Lys29=) c.602A= (p.Lys201=) c.287A= (p.Lys96=) c.188A= (p.Lys63=) c.809A= (p.Lys270=) c.494A= (p.Lys165=) | |
| 14 | g.24081448T>A | CA389278042 | NRL | c.502A>T (p.Lys168Ter) c.85A>T (p.Lys29Ter) c.601A>T (p.Lys201Ter) c.286A>T (p.Lys96Ter) c.187A>T (p.Lys63Ter) c.808A>T (p.Lys270Ter) c.493A>T (p.Lys165Ter) | gnomAD v4 |
| 14 | g.24081448T>C | CA389278047 | NRL | c.502A>G (p.Lys168Glu) c.85A>G (p.Lys29Glu) c.601A>G (p.Lys201Glu) c.286A>G (p.Lys96Glu) c.187A>G (p.Lys63Glu) c.808A>G (p.Lys270Glu) c.493A>G (p.Lys165Glu) | gnomAD v4 |
| 14 | g.24081448T>G | CA389278052 | NRL | c.502A>C (p.Lys168Gln) c.85A>C (p.Lys29Gln) c.601A>C (p.Lys201Gln) c.286A>C (p.Lys96Gln) c.187A>C (p.Lys63Gln) c.808A>C (p.Lys270Gln) c.493A>C (p.Lys165Gln) | |
| 14 | g.24081449C>A | CA485775911 | NRL | c.501G>T (p.Leu167=) c.84G>T (p.Leu28=) c.600G>T (p.Leu200=) c.285G>T (p.Leu95=) c.186G>T (p.Leu62=) c.807G>T (p.Leu269=) c.492G>T (p.Leu164=) | |
| 14 | g.24081449C>G | CA485775908 | NRL | c.501G>C (p.Leu167=) c.84G>C (p.Leu28=) c.600G>C (p.Leu200=) c.285G>C (p.Leu95=) c.186G>C (p.Leu62=) c.807G>C (p.Leu269=) c.492G>C (p.Leu164=) | |
| 14 | g.24081449C>T | CA485775909 | NRL | c.501G>A (p.Leu167=) c.84G>A (p.Leu28=) c.600G>A (p.Leu200=) c.285G>A (p.Leu95=) c.186G>A (p.Leu62=) c.807G>A (p.Leu269=) c.492G>A (p.Leu164=) | |
| 14 | g.24081450A>C | CA389278055 | NRL | c.500T>G (p.Leu167Arg) c.83T>G (p.Leu28Arg) c.599T>G (p.Leu200Arg) c.284T>G (p.Leu95Arg) c.185T>G (p.Leu62Arg) c.806T>G (p.Leu269Arg) c.491T>G (p.Leu164Arg) | |
| 14 | g.24081450A>G | CA389278057 | NRL | c.500T>C (p.Leu167Pro) c.83T>C (p.Leu28Pro) c.599T>C (p.Leu200Pro) c.284T>C (p.Leu95Pro) c.185T>C (p.Leu62Pro) c.806T>C (p.Leu269Pro) c.491T>C (p.Leu164Pro) | |
| 14 | g.24081450A>T | CA389278061 | NRL | c.500T>A (p.Leu167Gln) c.83T>A (p.Leu28Gln) c.599T>A (p.Leu200Gln) c.284T>A (p.Leu95Gln) c.185T>A (p.Leu62Gln) c.806T>A (p.Leu269Gln) c.491T>A (p.Leu164Gln) | dbSNP |
| 14 | g.24081451G>A | CA485775914 | NRL | c.499C>T (p.Leu167=) c.82C>T (p.Leu28=) c.598C>T (p.Leu200=) c.283C>T (p.Leu95=) c.184C>T (p.Leu62=) c.805C>T (p.Leu269=) c.490C>T (p.Leu164=) | |
| 14 | g.24081451G>C | CA389278082 | NRL | c.499C>G (p.Leu167Val) c.82C>G (p.Leu28Val) c.598C>G (p.Leu200Val) c.283C>G (p.Leu95Val) c.184C>G (p.Leu62Val) c.805C>G (p.Leu269Val) c.490C>G (p.Leu164Val) | |
| 14 | g.24081451G>T | CA389278079 | NRL | c.499C>A (p.Leu167Met) c.82C>A (p.Leu28Met) c.598C>A (p.Leu200Met) c.283C>A (p.Leu95Met) c.184C>A (p.Leu62Met) c.805C>A (p.Leu269Met) c.490C>A (p.Leu164Met) | |
| 14 | g.24081452C>A | CA485775918 | NRL | c.498G>T (p.Thr166=) c.81G>T (p.Thr27=) c.597G>T (p.Thr199=) c.282G>T (p.Thr94=) c.183G>T (p.Thr61=) c.804G>T (p.Thr268=) c.489G>T (p.Thr163=) | gnomAD v4 |
| 14 | g.24081452C= | CA2123777711 | NRL | c.498G= (p.Thr166=) c.81G= (p.Thr27=) c.597G= (p.Thr199=) c.282G= (p.Thr94=) c.183G= (p.Thr61=) c.804G= (p.Thr268=) c.489G= (p.Thr163=) | |
| 14 | g.24081452C>G | CA485775919 | NRL | c.498G>C (p.Thr166=) c.81G>C (p.Thr27=) c.597G>C (p.Thr199=) c.282G>C (p.Thr94=) c.183G>C (p.Thr61=) c.804G>C (p.Thr268=) c.489G>C (p.Thr163=) | |
| 14 | g.24081452C>T | CA485775921 | NRL | c.498G>A (p.Thr166=) c.81G>A (p.Thr27=) c.597G>A (p.Thr199=) c.282G>A (p.Thr94=) c.183G>A (p.Thr61=) c.804G>A (p.Thr268=) c.489G>A (p.Thr163=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081453G>A | CA389278088 | NRL | c.497C>T (p.Thr166Met) c.80C>T (p.Thr27Met) c.596C>T (p.Thr199Met) c.281C>T (p.Thr94Met) c.182C>T (p.Thr61Met) c.803C>T (p.Thr268Met) c.488C>T (p.Thr163Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081453G>C | CA389278095 | NRL | c.497C>G (p.Thr166Arg) c.80C>G (p.Thr27Arg) c.596C>G (p.Thr199Arg) c.281C>G (p.Thr94Arg) c.182C>G (p.Thr61Arg) c.803C>G (p.Thr268Arg) c.488C>G (p.Thr163Arg) | |
| 14 | g.24081453G= | CA2123777716 | NRL | c.497C= (p.Thr166=) c.80C= (p.Thr27=) c.596C= (p.Thr199=) c.281C= (p.Thr94=) c.182C= (p.Thr61=) c.803C= (p.Thr268=) c.488C= (p.Thr163=) | |
| 14 | g.24081453G>T | CA389278099 | NRL | c.497C>A (p.Thr166Lys) c.80C>A (p.Thr27Lys) c.596C>A (p.Thr199Lys) c.281C>A (p.Thr94Lys) c.182C>A (p.Thr61Lys) c.803C>A (p.Thr268Lys) c.488C>A (p.Thr163Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081454T>A | CA389278104 | NRL | c.496A>T (p.Thr166Ser) c.79A>T (p.Thr27Ser) c.595A>T (p.Thr199Ser) c.280A>T (p.Thr94Ser) c.181A>T (p.Thr61Ser) c.802A>T (p.Thr268Ser) c.487A>T (p.Thr163Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081454T>C | CA389278112 | NRL | c.496A>G (p.Thr166Ala) c.79A>G (p.Thr27Ala) c.595A>G (p.Thr199Ala) c.280A>G (p.Thr94Ala) c.181A>G (p.Thr61Ala) c.802A>G (p.Thr268Ala) c.487A>G (p.Thr163Ala) | |
| 14 | g.24081454T>G | CA389278120 | NRL | c.496A>C (p.Thr166Pro) c.79A>C (p.Thr27Pro) c.595A>C (p.Thr199Pro) c.280A>C (p.Thr94Pro) c.181A>C (p.Thr61Pro) c.802A>C (p.Thr268Pro) c.487A>C (p.Thr163Pro) | |
| 14 | g.24081455G>A | CA485775926 | NRL | c.495C>T (p.Arg165=) c.78C>T (p.Arg26=) c.594C>T (p.Arg198=) c.279C>T (p.Arg93=) c.180C>T (p.Arg60=) c.801C>T (p.Arg267=) c.486C>T (p.Arg162=) | gnomAD v4 |
| 14 | g.24081455G>C | CA485775927 | NRL | c.495C>G (p.Arg165=) c.78C>G (p.Arg26=) c.594C>G (p.Arg198=) c.279C>G (p.Arg93=) c.180C>G (p.Arg60=) c.801C>G (p.Arg267=) c.486C>G (p.Arg162=) | |
| 14 | g.24081455G>T | CA485775929 | NRL | c.495C>A (p.Arg165=) c.78C>A (p.Arg26=) c.594C>A (p.Arg198=) c.279C>A (p.Arg93=) c.180C>A (p.Arg60=) c.801C>A (p.Arg267=) c.486C>A (p.Arg162=) | |
| 14 | g.24081458_24081460dup | CA2624298554 | NRL | c.493_495dup (p.Arg165_Thr166insArg) c.76_78dup (p.Arg26_Thr27insArg) c.592_594dup (p.Arg198_Thr199insArg) c.277_279dup (p.Arg93_Thr94insArg) c.178_180dup (p.Arg60_Thr61insArg) c.799_801dup (p.Arg267_Thr268insArg) c.484_486dup (p.Arg162_Thr163insArg) | gnomAD v4 |
| 14 | g.24081457_24081476dup | CA2624298556 | NRL | c.476_495dup (p.Thr166GlyfsTer2) c.59_78dup (p.Thr27GlyfsTer2) c.575_594dup (p.Thr199GlyfsTer2) c.260_279dup (p.Thr94GlyfsTer2) c.161_180dup (p.Thr61GlyfsTer2) c.782_801dup (p.Thr268GlyfsTer2) c.467_486dup (p.Thr163GlyfsTer2) | gnomAD v4 |
| 14 | g.24081456C>A | CA389278131 | NRL | c.494G>T (p.Arg165Leu) c.77G>T (p.Arg26Leu) c.593G>T (p.Arg198Leu) c.278G>T (p.Arg93Leu) c.179G>T (p.Arg60Leu) c.800G>T (p.Arg267Leu) c.485G>T (p.Arg162Leu) | |
| 14 | g.24081456C>G | CA389278128 | NRL | c.494G>C (p.Arg165Pro) c.77G>C (p.Arg26Pro) c.593G>C (p.Arg198Pro) c.278G>C (p.Arg93Pro) c.179G>C (p.Arg60Pro) c.800G>C (p.Arg267Pro) c.485G>C (p.Arg162Pro) | ClinVar dbSNP |
| 14 | g.24081456C>T | CA389278123 | NRL | c.494G>A (p.Arg165His) c.77G>A (p.Arg26His) c.593G>A (p.Arg198His) c.278G>A (p.Arg93His) c.179G>A (p.Arg60His) c.800G>A (p.Arg267His) c.485G>A (p.Arg162His) | gnomAD v4 |
| 14 | g.24081457G>A | CA389278134 | NRL | c.493C>T (p.Arg165Cys) c.76C>T (p.Arg26Cys) c.592C>T (p.Arg198Cys) c.277C>T (p.Arg93Cys) c.178C>T (p.Arg60Cys) c.799C>T (p.Arg267Cys) c.484C>T (p.Arg162Cys) | gnomAD v4 |
| 14 | g.24081457G>C | CA389278147 | NRL | c.493C>G (p.Arg165Gly) c.76C>G (p.Arg26Gly) c.592C>G (p.Arg198Gly) c.277C>G (p.Arg93Gly) c.178C>G (p.Arg60Gly) c.799C>G (p.Arg267Gly) c.484C>G (p.Arg162Gly) | |
| 14 | g.24081457G>T | CA389278151 | NRL | c.493C>A (p.Arg165Ser) c.76C>A (p.Arg26Ser) c.592C>A (p.Arg198Ser) c.277C>A (p.Arg93Ser) c.178C>A (p.Arg60Ser) c.799C>A (p.Arg267Ser) c.484C>A (p.Arg162Ser) | |
| 14 | g.24081457_24081477delinsGGCGCCTCTGCTTCAGCCGCA | CA2123777720 | NRL | c.473_493delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu158=) c.56_76delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu19=) c.572_592delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu191=) c.257_277delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu86=) c.158_178delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu53=) c.779_799delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu260=) c.464_484delinsTGCGGCTGAAGCAGAGGCGCC (p.Leu155=) | |
| 14 | g.24081458G>A | CA485775933 | NRL | c.492C>T (p.Arg164=) c.75C>T (p.Arg25=) c.591C>T (p.Arg197=) c.276C>T (p.Arg92=) c.177C>T (p.Arg59=) c.798C>T (p.Arg266=) c.483C>T (p.Arg161=) | |
| 14 | g.24081458G>C | CA485775935 | NRL | c.492C>G (p.Arg164=) c.75C>G (p.Arg25=) c.591C>G (p.Arg197=) c.276C>G (p.Arg92=) c.177C>G (p.Arg59=) c.798C>G (p.Arg266=) c.483C>G (p.Arg161=) | |
| 14 | g.24081458G>T | CA485775936 | NRL | c.492C>A (p.Arg164=) c.75C>A (p.Arg25=) c.591C>A (p.Arg197=) c.276C>A (p.Arg92=) c.177C>A (p.Arg59=) c.798C>A (p.Arg266=) c.483C>A (p.Arg161=) | gnomAD v4 |
| 14 | g.24081465_24081484dup | CA2624298569 | NRL | c.473_492dup (p.Arg165CysfsTer3) c.56_75dup (p.Arg26CysfsTer3) c.572_591dup (p.Arg198CysfsTer3) c.257_276dup (p.Arg93CysfsTer3) c.158_177dup (p.Arg60CysfsTer3) c.779_798dup (p.Arg267CysfsTer3) c.464_483dup (p.Arg162CysfsTer3) | gnomAD v4 |
| 14 | g.24081465_24081484del | CA613319080 | NRL | c.473_492del (p.Leu158ProfsTer?) c.56_75del (p.Leu19ProfsTer?) c.572_591del (p.Leu191ProfsTer?) c.257_276del (p.Leu86ProfsTer?) c.158_177del (p.Leu53ProfsTer?) c.779_798del (p.Leu260ProfsTer?) c.464_483del (p.Leu155ProfsTer?) | dbSNP gnomAD v2 |
| 14 | g.24081459C>A | CA389278153 | NRL | c.491G>T (p.Arg164Leu) c.74G>T (p.Arg25Leu) c.590G>T (p.Arg197Leu) c.275G>T (p.Arg92Leu) c.176G>T (p.Arg59Leu) c.797G>T (p.Arg266Leu) c.482G>T (p.Arg161Leu) | ClinVar |
| 14 | g.24081459C>G | CA389278154 | NRL | c.491G>C (p.Arg164Pro) c.74G>C (p.Arg25Pro) c.590G>C (p.Arg197Pro) c.275G>C (p.Arg92Pro) c.176G>C (p.Arg59Pro) c.797G>C (p.Arg266Pro) c.482G>C (p.Arg161Pro) | |
| 14 | g.24081459C>T | CA389278155 | NRL | c.491G>A (p.Arg164His) c.74G>A (p.Arg25His) c.590G>A (p.Arg197His) c.275G>A (p.Arg92His) c.176G>A (p.Arg59His) c.797G>A (p.Arg266His) c.482G>A (p.Arg161His) | gnomAD v4 COSMIC |
| 14 | g.24081460G>A | CA7122823 | NRL | c.490C>T (p.Arg164Cys) c.73C>T (p.Arg25Cys) c.589C>T (p.Arg197Cys) c.274C>T (p.Arg92Cys) c.175C>T (p.Arg59Cys) c.796C>T (p.Arg266Cys) c.481C>T (p.Arg161Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081460G>C | CA389278170 | NRL | c.490C>G (p.Arg164Gly) c.73C>G (p.Arg25Gly) c.589C>G (p.Arg197Gly) c.274C>G (p.Arg92Gly) c.175C>G (p.Arg59Gly) c.796C>G (p.Arg266Gly) c.481C>G (p.Arg161Gly) | |
| 14 | g.24081460G= | CA2123777723 | NRL | c.490C= (p.Arg164=) c.73C= (p.Arg25=) c.589C= (p.Arg197=) c.274C= (p.Arg92=) c.175C= (p.Arg59=) c.796C= (p.Arg266=) c.481C= (p.Arg161=) | |
| 14 | g.24081460G>T | CA389278165 | NRL | c.490C>A (p.Arg164Ser) c.73C>A (p.Arg25Ser) c.589C>A (p.Arg197Ser) c.274C>A (p.Arg92Ser) c.175C>A (p.Arg59Ser) c.796C>A (p.Arg266Ser) c.481C>A (p.Arg161Ser) | dbSNP gnomAD v4 |
| 14 | g.24081461C>A | CA389278174 | NRL | c.489G>T (p.Arg163Ser) c.72G>T (p.Arg24Ser) c.588G>T (p.Arg196Ser) c.273G>T (p.Arg91Ser) c.174G>T (p.Arg58Ser) c.795G>T (p.Arg265Ser) c.480G>T (p.Arg160Ser) | |
| 14 | g.24081461C= | CA2123777724 | NRL | c.489G= (p.Arg163=) c.72G= (p.Arg24=) c.588G= (p.Arg196=) c.273G= (p.Arg91=) c.174G= (p.Arg58=) c.795G= (p.Arg265=) c.480G= (p.Arg160=) | |
| 14 | g.24081461C>G | CA389278178 | NRL | c.489G>C (p.Arg163Ser) c.72G>C (p.Arg24Ser) c.588G>C (p.Arg196Ser) c.273G>C (p.Arg91Ser) c.174G>C (p.Arg58Ser) c.795G>C (p.Arg265Ser) c.480G>C (p.Arg160Ser) | |
| 14 | g.24081461C>T | CA485775938 | NRL | c.489G>A (p.Arg163=) c.72G>A (p.Arg24=) c.588G>A (p.Arg196=) c.273G>A (p.Arg91=) c.174G>A (p.Arg58=) c.795G>A (p.Arg265=) c.480G>A (p.Arg160=) | dbSNP |
| 14 | g.24081462C>A | CA389278181 | NRL | c.488G>T (p.Arg163Met) c.71G>T (p.Arg24Met) c.587G>T (p.Arg196Met) c.272G>T (p.Arg91Met) c.173G>T (p.Arg58Met) c.794G>T (p.Arg265Met) c.479G>T (p.Arg160Met) | dbSNP |
| 14 | g.24081462C= | CA2123777729 | NRL | c.488G= (p.Arg163=) c.71G= (p.Arg24=) c.587G= (p.Arg196=) c.272G= (p.Arg91=) c.173G= (p.Arg58=) c.794G= (p.Arg265=) c.479G= (p.Arg160=) | |
| 14 | g.24081462C>G | CA389278185 | NRL | c.488G>C (p.Arg163Thr) c.71G>C (p.Arg24Thr) c.587G>C (p.Arg196Thr) c.272G>C (p.Arg91Thr) c.173G>C (p.Arg58Thr) c.794G>C (p.Arg265Thr) c.479G>C (p.Arg160Thr) | |
| 14 | g.24081462C>T | CA7122824 | NRL | c.488G>A (p.Arg163Lys) c.71G>A (p.Arg24Lys) c.587G>A (p.Arg196Lys) c.272G>A (p.Arg91Lys) c.173G>A (p.Arg58Lys) c.794G>A (p.Arg265Lys) c.479G>A (p.Arg160Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081463T>A | CA389278189 | NRL | c.487A>T (p.Arg163Trp) c.70A>T (p.Arg24Trp) c.586A>T (p.Arg196Trp) c.271A>T (p.Arg91Trp) c.172A>T (p.Arg58Trp) c.793A>T (p.Arg265Trp) c.478A>T (p.Arg160Trp) | dbSNP gnomAD v4 |
| 14 | g.24081463T>C | CA389278193 | NRL | c.487A>G (p.Arg163Gly) c.70A>G (p.Arg24Gly) c.586A>G (p.Arg196Gly) c.271A>G (p.Arg91Gly) c.172A>G (p.Arg58Gly) c.793A>G (p.Arg265Gly) c.478A>G (p.Arg160Gly) | gnomAD v4 |
| 14 | g.24081463T>G | CA485775942 | NRL | c.487A>C (p.Arg163=) c.70A>C (p.Arg24=) c.586A>C (p.Arg196=) c.271A>C (p.Arg91=) c.172A>C (p.Arg58=) c.793A>C (p.Arg265=) c.478A>C (p.Arg160=) | |
| 14 | g.24081463T= | CA2123777737 | NRL | c.487A= (p.Arg163=) c.70A= (p.Arg24=) c.586A= (p.Arg196=) c.271A= (p.Arg91=) c.172A= (p.Arg58=) c.793A= (p.Arg265=) c.478A= (p.Arg160=) | |
| 14 | g.24081464C>A | CA389278198 | NRL | c.486G>T (p.Gln162His) c.69G>T (p.Gln23His) c.585G>T (p.Gln195His) c.270G>T (p.Gln90His) c.171G>T (p.Gln57His) c.792G>T (p.Gln264His) c.477G>T (p.Gln159His) | |
| 14 | g.24081464C>G | CA389278207 | NRL | c.486G>C (p.Gln162His) c.69G>C (p.Gln23His) c.585G>C (p.Gln195His) c.270G>C (p.Gln90His) c.171G>C (p.Gln57His) c.792G>C (p.Gln264His) c.477G>C (p.Gln159His) | |
| 14 | g.24081464C>T | CA485775943 | NRL | c.486G>A (p.Gln162=) c.69G>A (p.Gln23=) c.585G>A (p.Gln195=) c.270G>A (p.Gln90=) c.171G>A (p.Gln57=) c.792G>A (p.Gln264=) c.477G>A (p.Gln159=) | |
| 14 | g.24081465T>A | CA389278209 | NRL | c.485A>T (p.Gln162Leu) c.68A>T (p.Gln23Leu) c.584A>T (p.Gln195Leu) c.269A>T (p.Gln90Leu) c.170A>T (p.Gln57Leu) c.791A>T (p.Gln264Leu) c.476A>T (p.Gln159Leu) | dbSNP gnomAD v2 |
| 14 | g.24081465T>C | CA389278228 | NRL | c.485A>G (p.Gln162Arg) c.68A>G (p.Gln23Arg) c.584A>G (p.Gln195Arg) c.269A>G (p.Gln90Arg) c.170A>G (p.Gln57Arg) c.791A>G (p.Gln264Arg) c.476A>G (p.Gln159Arg) | gnomAD v4 |
| 14 | g.24081465T>G | CA389278235 | NRL | c.485A>C (p.Gln162Pro) c.68A>C (p.Gln23Pro) c.584A>C (p.Gln195Pro) c.269A>C (p.Gln90Pro) c.170A>C (p.Gln57Pro) c.791A>C (p.Gln264Pro) c.476A>C (p.Gln159Pro) | |
| 14 | g.24081465T= | CA2123777743 | NRL | c.485A= (p.Gln162=) c.68A= (p.Gln23=) c.584A= (p.Gln195=) c.269A= (p.Gln90=) c.170A= (p.Gln57=) c.791A= (p.Gln264=) c.476A= (p.Gln159=) | |
| 14 | g.24081466G>A | CA389278238 | NRL | c.484C>T (p.Gln162Ter) c.67C>T (p.Gln23Ter) c.583C>T (p.Gln195Ter) c.268C>T (p.Gln90Ter) c.169C>T (p.Gln57Ter) c.790C>T (p.Gln264Ter) c.475C>T (p.Gln159Ter) | gnomAD v4 |
| 14 | g.24081466G>C | CA389278254 | NRL | c.484C>G (p.Gln162Glu) c.67C>G (p.Gln23Glu) c.583C>G (p.Gln195Glu) c.268C>G (p.Gln90Glu) c.169C>G (p.Gln57Glu) c.790C>G (p.Gln264Glu) c.475C>G (p.Gln159Glu) | |
| 14 | g.24081466G>T | CA389278242 | NRL | c.484C>A (p.Gln162Lys) c.67C>A (p.Gln23Lys) c.583C>A (p.Gln195Lys) c.268C>A (p.Gln90Lys) c.169C>A (p.Gln57Lys) c.790C>A (p.Gln264Lys) c.475C>A (p.Gln159Lys) | gnomAD v4 |
| 14 | g.24081467C>A | CA389278255 | NRL | c.483G>T (p.Lys161Asn) c.66G>T (p.Lys22Asn) c.582G>T (p.Lys194Asn) c.267G>T (p.Lys89Asn) c.168G>T (p.Lys56Asn) c.789G>T (p.Lys263Asn) c.474G>T (p.Lys158Asn) | gnomAD v4 |
| 14 | g.24081467C>G | CA389278258 | NRL | c.483G>C (p.Lys161Asn) c.66G>C (p.Lys22Asn) c.582G>C (p.Lys194Asn) c.267G>C (p.Lys89Asn) c.168G>C (p.Lys56Asn) c.789G>C (p.Lys263Asn) c.474G>C (p.Lys158Asn) | |
| 14 | g.24081467C>T | CA485775949 | NRL | c.483G>A (p.Lys161=) c.66G>A (p.Lys22=) c.582G>A (p.Lys194=) c.267G>A (p.Lys89=) c.168G>A (p.Lys56=) c.789G>A (p.Lys263=) c.474G>A (p.Lys158=) | ClinVar gnomAD v4 |
| 14 | g.24081468T>A | CA389278260 | NRL | c.482A>T (p.Lys161Met) c.65A>T (p.Lys22Met) c.581A>T (p.Lys194Met) c.266A>T (p.Lys89Met) c.167A>T (p.Lys56Met) c.788A>T (p.Lys263Met) c.473A>T (p.Lys158Met) | |
| 14 | g.24081468T>C | CA389278262 | NRL | c.482A>G (p.Lys161Arg) c.65A>G (p.Lys22Arg) c.581A>G (p.Lys194Arg) c.266A>G (p.Lys89Arg) c.167A>G (p.Lys56Arg) c.788A>G (p.Lys263Arg) c.473A>G (p.Lys158Arg) | |
| 14 | g.24081468T>G | CA389278273 | NRL | c.482A>C (p.Lys161Thr) c.65A>C (p.Lys22Thr) c.581A>C (p.Lys194Thr) c.266A>C (p.Lys89Thr) c.167A>C (p.Lys56Thr) c.788A>C (p.Lys263Thr) c.473A>C (p.Lys158Thr) | |
| 14 | g.24081469T>A | CA389278284 | NRL | c.481A>T (p.Lys161Ter) c.64A>T (p.Lys22Ter) c.580A>T (p.Lys194Ter) c.265A>T (p.Lys89Ter) c.166A>T (p.Lys56Ter) c.787A>T (p.Lys263Ter) c.472A>T (p.Lys158Ter) | |
| 14 | g.24081469T>C | CA389278289 | NRL | c.481A>G (p.Lys161Glu) c.64A>G (p.Lys22Glu) c.580A>G (p.Lys194Glu) c.265A>G (p.Lys89Glu) c.166A>G (p.Lys56Glu) c.787A>G (p.Lys263Glu) c.472A>G (p.Lys158Glu) | dbSNP gnomAD v4 |
| 14 | g.24081469T>G | CA389278291 | NRL | c.481A>C (p.Lys161Gln) c.64A>C (p.Lys22Gln) c.580A>C (p.Lys194Gln) c.265A>C (p.Lys89Gln) c.166A>C (p.Lys56Gln) c.787A>C (p.Lys263Gln) c.472A>C (p.Lys158Gln) | |
| 14 | g.24081469T= | CA2123777747 | NRL | c.481A= (p.Lys161=) c.64A= (p.Lys22=) c.580A= (p.Lys194=) c.265A= (p.Lys89=) c.166A= (p.Lys56=) c.787A= (p.Lys263=) c.472A= (p.Lys158=) | |
| 14 | g.24081470C>A | CA485775950 | NRL | c.480G>T (p.Leu160=) c.63G>T (p.Leu21=) c.579G>T (p.Leu193=) c.264G>T (p.Leu88=) c.165G>T (p.Leu55=) c.786G>T (p.Leu262=) c.471G>T (p.Leu157=) | gnomAD v4 |
| 14 | g.24081470C>G | CA485775951 | NRL | c.480G>C (p.Leu160=) c.63G>C (p.Leu21=) c.579G>C (p.Leu193=) c.264G>C (p.Leu88=) c.165G>C (p.Leu55=) c.786G>C (p.Leu262=) c.471G>C (p.Leu157=) | |
| 14 | g.24081470C>T | CA485775952 | NRL | c.480G>A (p.Leu160=) c.63G>A (p.Leu21=) c.579G>A (p.Leu193=) c.264G>A (p.Leu88=) c.165G>A (p.Leu55=) c.786G>A (p.Leu262=) c.471G>A (p.Leu157=) | gnomAD v4 |
| 14 | g.24081471A= | CA2123777754 | NRL | c.479T= (p.Leu160=) c.62T= (p.Leu21=) c.578T= (p.Leu193=) c.263T= (p.Leu88=) c.164T= (p.Leu55=) c.785T= (p.Leu262=) c.470T= (p.Leu157=) | |
| 14 | g.24081471A>C | CA389278293 | NRL | c.479T>G (p.Leu160Arg) c.62T>G (p.Leu21Arg) c.578T>G (p.Leu193Arg) c.263T>G (p.Leu88Arg) c.164T>G (p.Leu55Arg) c.785T>G (p.Leu262Arg) c.470T>G (p.Leu157Arg) | |
| 14 | g.24081471A>G | CA123731 | NRL | c.479T>C (p.Leu160Pro) c.62T>C (p.Leu21Pro) c.578T>C (p.Leu193Pro) c.263T>C (p.Leu88Pro) c.164T>C (p.Leu55Pro) c.785T>C (p.Leu262Pro) c.470T>C (p.Leu157Pro) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081471A>T | CA389278300 | NRL | c.479T>A (p.Leu160Gln) c.62T>A (p.Leu21Gln) c.578T>A (p.Leu193Gln) c.263T>A (p.Leu88Gln) c.164T>A (p.Leu55Gln) c.785T>A (p.Leu262Gln) c.470T>A (p.Leu157Gln) | |
| 14 | g.24081472G>A | CA485775957 | NRL | c.478C>T (p.Leu160=) c.61C>T (p.Leu21=) c.577C>T (p.Leu193=) c.262C>T (p.Leu88=) c.163C>T (p.Leu55=) c.784C>T (p.Leu262=) c.469C>T (p.Leu157=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081472G>C | CA389278312 | NRL | c.478C>G (p.Leu160Val) c.61C>G (p.Leu21Val) c.577C>G (p.Leu193Val) c.262C>G (p.Leu88Val) c.163C>G (p.Leu55Val) c.784C>G (p.Leu262Val) c.469C>G (p.Leu157Val) | |
| 14 | g.24081472G= | CA2123777755 | NRL | c.478C= (p.Leu160=) c.61C= (p.Leu21=) c.577C= (p.Leu193=) c.262C= (p.Leu88=) c.163C= (p.Leu55=) c.784C= (p.Leu262=) c.469C= (p.Leu157=) | |
| 14 | g.24081472G>T | CA389278315 | NRL | c.478C>A (p.Leu160Met) c.61C>A (p.Leu21Met) c.577C>A (p.Leu193Met) c.262C>A (p.Leu88Met) c.163C>A (p.Leu55Met) c.784C>A (p.Leu262Met) c.469C>A (p.Leu157Met) | gnomAD v4 |
| 14 | g.24081473C>A | CA485775964 | NRL | c.477G>T (p.Arg159=) c.60G>T (p.Arg20=) c.576G>T (p.Arg192=) c.261G>T (p.Arg87=) c.162G>T (p.Arg54=) c.783G>T (p.Arg261=) c.468G>T (p.Arg156=) | gnomAD v4 |
| 14 | g.24081473C= | CA2123777760 | NRL | c.477G= (p.Arg159=) c.60G= (p.Arg20=) c.576G= (p.Arg192=) c.261G= (p.Arg87=) c.162G= (p.Arg54=) c.783G= (p.Arg261=) c.468G= (p.Arg156=) | |
| 14 | g.24081473C>G | CA485775965 | NRL | c.477G>C (p.Arg159=) c.60G>C (p.Arg20=) c.576G>C (p.Arg192=) c.261G>C (p.Arg87=) c.162G>C (p.Arg54=) c.783G>C (p.Arg261=) c.468G>C (p.Arg156=) | |
| 14 | g.24081473C>T | CA485775966 | NRL | c.477G>A (p.Arg159=) c.60G>A (p.Arg20=) c.576G>A (p.Arg192=) c.261G>A (p.Arg87=) c.162G>A (p.Arg54=) c.783G>A (p.Arg261=) c.468G>A (p.Arg156=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081480_24081498dup | CA7122825 | NRL | c.459_477dup (p.Leu160AlafsTer?) c.42_60dup (p.Leu21AlafsTer?) c.558_576dup (p.Leu193AlafsTer?) c.243_261dup (p.Leu88AlafsTer?) c.144_162dup (p.Leu55AlafsTer?) c.765_783dup (p.Leu262AlafsTer?) c.450_468dup (p.Leu157AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081473_24081474insGTG | CA2624298620 | NRL | c.476_477insCAC (p.Arg159_Leu160insThr) c.59_60insCAC (p.Arg20_Leu21insThr) c.575_576insCAC (p.Arg192_Leu193insThr) c.260_261insCAC (p.Arg87_Leu88insThr) c.161_162insCAC (p.Arg54_Leu55insThr) c.782_783insCAC (p.Arg261_Leu262insThr) c.467_468insCAC (p.Arg156_Leu157insThr) | gnomAD v4 |
| 14 | g.24081474C>A | CA389278320 | NRL | c.476G>T (p.Arg159Leu) c.59G>T (p.Arg20Leu) c.575G>T (p.Arg192Leu) c.260G>T (p.Arg87Leu) c.161G>T (p.Arg54Leu) c.782G>T (p.Arg261Leu) c.467G>T (p.Arg156Leu) | |
| 14 | g.24081474C= | CA2123777767 | NRL | c.476G= (p.Arg159=) c.59G= (p.Arg20=) c.575G= (p.Arg192=) c.260G= (p.Arg87=) c.161G= (p.Arg54=) c.782G= (p.Arg261=) c.467G= (p.Arg156=) | |
| 14 | g.24081474C>G | CA389278324 | NRL | c.476G>C (p.Arg159Pro) c.59G>C (p.Arg20Pro) c.575G>C (p.Arg192Pro) c.260G>C (p.Arg87Pro) c.161G>C (p.Arg54Pro) c.782G>C (p.Arg261Pro) c.467G>C (p.Arg156Pro) | |
| 14 | g.24081474C>T | CA389278343 | NRL | c.476G>A (p.Arg159Gln) c.59G>A (p.Arg20Gln) c.575G>A (p.Arg192Gln) c.260G>A (p.Arg87Gln) c.161G>A (p.Arg54Gln) c.782G>A (p.Arg261Gln) c.467G>A (p.Arg156Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081475G>A | CA389278349 | NRL | c.475C>T (p.Arg159Trp) c.58C>T (p.Arg20Trp) c.574C>T (p.Arg192Trp) c.259C>T (p.Arg87Trp) c.160C>T (p.Arg54Trp) c.781C>T (p.Arg261Trp) c.466C>T (p.Arg156Trp) | dbSNP gnomAD v4 |
| 14 | g.24081475G>C | CA389278352 | NRL | c.475C>G (p.Arg159Gly) c.58C>G (p.Arg20Gly) c.574C>G (p.Arg192Gly) c.259C>G (p.Arg87Gly) c.160C>G (p.Arg54Gly) c.781C>G (p.Arg261Gly) c.466C>G (p.Arg156Gly) | |
| 14 | g.24081475G= | CA2123777775 | NRL | c.475C= (p.Arg159=) c.58C= (p.Arg20=) c.574C= (p.Arg192=) c.259C= (p.Arg87=) c.160C= (p.Arg54=) c.781C= (p.Arg261=) c.466C= (p.Arg156=) | |
| 14 | g.24081475G>T | CA485775974 | NRL | c.475C>A (p.Arg159=) c.58C>A (p.Arg20=) c.574C>A (p.Arg192=) c.259C>A (p.Arg87=) c.160C>A (p.Arg54=) c.781C>A (p.Arg261=) c.466C>A (p.Arg156=) | gnomAD v4 |
| 14 | g.24081475_24081476insT | CA7122826 | NRL | c.474_475insA (p.Arg159ThrfsTer?) c.57_58insA (p.Arg20ThrfsTer?) c.573_574insA (p.Arg192ThrfsTer?) c.258_259insA (p.Arg87ThrfsTer?) c.159_160insA (p.Arg54ThrfsTer?) c.780_781insA (p.Arg261ThrfsTer?) c.465_466insA (p.Arg156ThrfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081475_24081476insGCGCCTCTGCTTCAGCCT | CA2624298635 | NRL | c.474_475insAGGCTGAAGCAGAGGCGC (p.Leu158_Arg159insArgLeuLysGlnArgArg) c.57_58insAGGCTGAAGCAGAGGCGC (p.Leu19_Arg20insArgLeuLysGlnArgArg) c.573_574insAGGCTGAAGCAGAGGCGC (p.Leu191_Arg192insArgLeuLysGlnArgArg) c.258_259insAGGCTGAAGCAGAGGCGC (p.Leu86_Arg87insArgLeuLysGlnArgArg) c.159_160insAGGCTGAAGCAGAGGCGC (p.Leu53_Arg54insArgLeuLysGlnArgArg) c.780_781insAGGCTGAAGCAGAGGCGC (p.Leu260_Arg261insArgLeuLysGlnArgArg) c.465_466insAGGCTGAAGCAGAGGCGC (p.Leu155_Arg156insArgLeuLysGlnArgArg) | gnomAD v4 |
| 14 | g.24081476C>A | CA485775975 | NRL | c.474G>T (p.Leu158=) c.57G>T (p.Leu19=) c.573G>T (p.Leu191=) c.258G>T (p.Leu86=) c.159G>T (p.Leu53=) c.780G>T (p.Leu260=) c.465G>T (p.Leu155=) | gnomAD v4 |
| 14 | g.24081476C= | CA2123777781 | NRL | c.474G= (p.Leu158=) c.57G= (p.Leu19=) c.573G= (p.Leu191=) c.258G= (p.Leu86=) c.159G= (p.Leu53=) c.780G= (p.Leu260=) c.465G= (p.Leu155=) | |
| 14 | g.24081476C>G | CA485775976 | NRL | c.474G>C (p.Leu158=) c.57G>C (p.Leu19=) c.573G>C (p.Leu191=) c.258G>C (p.Leu86=) c.159G>C (p.Leu53=) c.780G>C (p.Leu260=) c.465G>C (p.Leu155=) | |
| 14 | g.24081476C>T | CA7122827 | NRL | c.474G>A (p.Leu158=) c.57G>A (p.Leu19=) c.573G>A (p.Leu191=) c.258G>A (p.Leu86=) c.159G>A (p.Leu53=) c.780G>A (p.Leu260=) c.465G>A (p.Leu155=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081477A= | CA2123777787 | NRL | c.473T= (p.Leu158=) c.56T= (p.Leu19=) c.572T= (p.Leu191=) c.257T= (p.Leu86=) c.158T= (p.Leu53=) c.779T= (p.Leu260=) c.464T= (p.Leu155=) | |
| 14 | g.24081477A>C | CA389278382 | NRL | c.473T>G (p.Leu158Arg) c.56T>G (p.Leu19Arg) c.572T>G (p.Leu191Arg) c.257T>G (p.Leu86Arg) c.158T>G (p.Leu53Arg) c.779T>G (p.Leu260Arg) c.464T>G (p.Leu155Arg) | |
| 14 | g.24081477A>G | CA389278383 | NRL | c.473T>C (p.Leu158Pro) c.56T>C (p.Leu19Pro) c.572T>C (p.Leu191Pro) c.257T>C (p.Leu86Pro) c.158T>C (p.Leu53Pro) c.779T>C (p.Leu260Pro) c.464T>C (p.Leu155Pro) | dbSNP gnomAD v4 |
| 14 | g.24081477A>T | CA389278385 | NRL | c.473T>A (p.Leu158Gln) c.56T>A (p.Leu19Gln) c.572T>A (p.Leu191Gln) c.257T>A (p.Leu86Gln) c.158T>A (p.Leu53Gln) c.779T>A (p.Leu260Gln) c.464T>A (p.Leu155Gln) | |
| 14 | g.24081478G>A | CA485775977 | NRL | c.472C>T (p.Leu158=) c.55C>T (p.Leu19=) c.571C>T (p.Leu191=) c.256C>T (p.Leu86=) c.157C>T (p.Leu53=) c.778C>T (p.Leu260=) c.463C>T (p.Leu155=) | gnomAD v4 |
| 14 | g.24081478G>C | CA389278388 | NRL | c.472C>G (p.Leu158Val) c.55C>G (p.Leu19Val) c.571C>G (p.Leu191Val) c.256C>G (p.Leu86Val) c.157C>G (p.Leu53Val) c.778C>G (p.Leu260Val) c.463C>G (p.Leu155Val) | |
| 14 | g.24081478G>T | CA389278396 | NRL | c.472C>A (p.Leu158Met) c.55C>A (p.Leu19Met) c.571C>A (p.Leu191Met) c.256C>A (p.Leu86Met) c.157C>A (p.Leu53Met) c.778C>A (p.Leu260Met) c.463C>A (p.Leu155Met) | gnomAD v4 |
| 14 | g.24081479C>A | CA485775980 | NRL | c.471G>T (p.Ala157=) c.54G>T (p.Ala18=) c.570G>T (p.Ala190=) c.255G>T (p.Ala85=) c.156G>T (p.Ala52=) c.777G>T (p.Ala259=) c.462G>T (p.Ala154=) | gnomAD v4 |
| 14 | g.24081479C>G | CA485775981 | NRL | c.471G>C (p.Ala157=) c.54G>C (p.Ala18=) c.570G>C (p.Ala190=) c.255G>C (p.Ala85=) c.156G>C (p.Ala52=) c.777G>C (p.Ala259=) c.462G>C (p.Ala154=) | |
| 14 | g.24081479C>T | CA485775979 | NRL | c.471G>A (p.Ala157=) c.54G>A (p.Ala18=) c.570G>A (p.Ala190=) c.255G>A (p.Ala85=) c.156G>A (p.Ala52=) c.777G>A (p.Ala259=) c.462G>A (p.Ala154=) | gnomAD v4 |
| 14 | g.24081480G>A | CA389278409 | NRL | c.470C>T (p.Ala157Val) c.53C>T (p.Ala18Val) c.569C>T (p.Ala190Val) c.254C>T (p.Ala85Val) c.155C>T (p.Ala52Val) c.776C>T (p.Ala259Val) c.461C>T (p.Ala154Val) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081480G>C | CA257868097 | NRL | c.470C>G (p.Ala157Gly) c.53C>G (p.Ala18Gly) c.569C>G (p.Ala190Gly) c.254C>G (p.Ala85Gly) c.155C>G (p.Ala52Gly) c.776C>G (p.Ala259Gly) c.461C>G (p.Ala154Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081480G= | CA2123777795 | NRL | c.470C= (p.Ala157=) c.53C= (p.Ala18=) c.569C= (p.Ala190=) c.254C= (p.Ala85=) c.155C= (p.Ala52=) c.776C= (p.Ala259=) c.461C= (p.Ala154=) | |
| 14 | g.24081480G>T | CA389278400 | NRL | c.470C>A (p.Ala157Glu) c.53C>A (p.Ala18Glu) c.569C>A (p.Ala190Glu) c.254C>A (p.Ala85Glu) c.155C>A (p.Ala52Glu) c.776C>A (p.Ala259Glu) c.461C>A (p.Ala154Glu) | gnomAD v4 |
| 14 | g.24081481C>A | CA389278412 | NRL | c.469G>T (p.Ala157Ser) c.52G>T (p.Ala18Ser) c.568G>T (p.Ala190Ser) c.253G>T (p.Ala85Ser) c.154G>T (p.Ala52Ser) c.775G>T (p.Ala259Ser) c.460G>T (p.Ala154Ser) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081481C= | CA2123777799 | NRL | c.469G= (p.Ala157=) c.52G= (p.Ala18=) c.568G= (p.Ala190=) c.253G= (p.Ala85=) c.154G= (p.Ala52=) c.775G= (p.Ala259=) c.460G= (p.Ala154=) | |
| 14 | g.24081481C>G | CA389278415 | NRL | c.469G>C (p.Ala157Pro) c.52G>C (p.Ala18Pro) c.568G>C (p.Ala190Pro) c.253G>C (p.Ala85Pro) c.154G>C (p.Ala52Pro) c.775G>C (p.Ala259Pro) c.460G>C (p.Ala154Pro) | |
| 14 | g.24081481C>T | CA389278413 | NRL | c.469G>A (p.Ala157Thr) c.52G>A (p.Ala18Thr) c.568G>A (p.Ala190Thr) c.253G>A (p.Ala85Thr) c.154G>A (p.Ala52Thr) c.775G>A (p.Ala259Thr) c.460G>A (p.Ala154Thr) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081482C>A | CA389278418 | NRL | c.468G>T (p.Glu156Asp) c.51G>T (p.Glu17Asp) c.567G>T (p.Glu189Asp) c.252G>T (p.Glu84Asp) c.153G>T (p.Glu51Asp) c.774G>T (p.Glu258Asp) c.459G>T (p.Glu153Asp) | gnomAD v4 |
| 14 | g.24081482C= | CA2123777802 | NRL | c.468G= (p.Glu156=) c.51G= (p.Glu17=) c.567G= (p.Glu189=) c.252G= (p.Glu84=) c.153G= (p.Glu51=) c.774G= (p.Glu258=) c.459G= (p.Glu153=) | |
| 14 | g.24081482C>G | CA389278421 | NRL | c.468G>C (p.Glu156Asp) c.51G>C (p.Glu17Asp) c.567G>C (p.Glu189Asp) c.252G>C (p.Glu84Asp) c.153G>C (p.Glu51Asp) c.774G>C (p.Glu258Asp) c.459G>C (p.Glu153Asp) | |
| 14 | g.24081482C>T | CA485775987 | NRL | c.468G>A (p.Glu156=) c.51G>A (p.Glu17=) c.567G>A (p.Glu189=) c.252G>A (p.Glu84=) c.153G>A (p.Glu51=) c.774G>A (p.Glu258=) c.459G>A (p.Glu153=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081483T>A | CA389278429 | NRL | c.467A>T (p.Glu156Val) c.50A>T (p.Glu17Val) c.566A>T (p.Glu189Val) c.251A>T (p.Glu84Val) c.152A>T (p.Glu51Val) c.773A>T (p.Glu258Val) c.458A>T (p.Glu153Val) | gnomAD v4 |
| 14 | g.24081483T>C | CA389278431 | NRL | c.467A>G (p.Glu156Gly) c.50A>G (p.Glu17Gly) c.566A>G (p.Glu189Gly) c.251A>G (p.Glu84Gly) c.152A>G (p.Glu51Gly) c.773A>G (p.Glu258Gly) c.458A>G (p.Glu153Gly) | ClinVar gnomAD v4 |
| 14 | g.24081483T>G | CA389278434 | NRL | c.467A>C (p.Glu156Ala) c.50A>C (p.Glu17Ala) c.566A>C (p.Glu189Ala) c.251A>C (p.Glu84Ala) c.152A>C (p.Glu51Ala) c.773A>C (p.Glu258Ala) c.458A>C (p.Glu153Ala) | |
| 14 | g.24081483T= | CA2123777807 | NRL | c.467A= (p.Glu156=) c.50A= (p.Glu17=) c.566A= (p.Glu189=) c.251A= (p.Glu84=) c.152A= (p.Glu51=) c.773A= (p.Glu258=) c.458A= (p.Glu153=) | |
| 14 | g.24081484C>A | CA389278444 | NRL | c.466G>T (p.Glu156Ter) c.49G>T (p.Glu17Ter) c.565G>T (p.Glu189Ter) c.250G>T (p.Glu84Ter) c.151G>T (p.Glu51Ter) c.772G>T (p.Glu258Ter) c.457G>T (p.Glu153Ter) | gnomAD v4 |
| 14 | g.24081484C= | CA2123777812 | NRL | c.466G= (p.Glu156=) c.49G= (p.Glu17=) c.565G= (p.Glu189=) c.250G= (p.Glu84=) c.151G= (p.Glu51=) c.772G= (p.Glu258=) c.457G= (p.Glu153=) | |
| 14 | g.24081484C>G | CA389278455 | NRL | c.466G>C (p.Glu156Gln) c.49G>C (p.Glu17Gln) c.565G>C (p.Glu189Gln) c.250G>C (p.Glu84Gln) c.151G>C (p.Glu51Gln) c.772G>C (p.Glu258Gln) c.457G>C (p.Glu153Gln) | |
| 14 | g.24081484C>T | CA7122828 | NRL | c.466G>A (p.Glu156Lys) c.49G>A (p.Glu17Lys) c.565G>A (p.Glu189Lys) c.250G>A (p.Glu84Lys) c.151G>A (p.Glu51Lys) c.772G>A (p.Glu258Lys) c.457G>A (p.Glu153Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081485_24081503dup | CA658798201 | NRL | c.448_466dup (p.Glu156AlafsTer?) c.31_49dup (p.Glu17AlafsTer?) c.547_565dup (p.Glu189AlafsTer?) c.232_250dup (p.Glu84AlafsTer?) c.133_151dup (p.Glu51AlafsTer?) c.754_772dup (p.Glu258AlafsTer?) c.439_457dup (p.Glu153AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081485G>A | CA485775990 | NRL | c.465C>T (p.Asp155=) c.48C>T (p.Asp16=) c.564C>T (p.Asp188=) c.249C>T (p.Asp83=) c.150C>T (p.Asp50=) c.771C>T (p.Asp257=) c.456C>T (p.Asp152=) | dbSNP gnomAD v4 |
| 14 | g.24081485G>C | CA389278458 | NRL | c.465C>G (p.Asp155Glu) c.48C>G (p.Asp16Glu) c.564C>G (p.Asp188Glu) c.249C>G (p.Asp83Glu) c.150C>G (p.Asp50Glu) c.771C>G (p.Asp257Glu) c.456C>G (p.Asp152Glu) | gnomAD v4 |
| 14 | g.24081485G= | CA2123777821 | NRL | c.465C= (p.Asp155=) c.48C= (p.Asp16=) c.564C= (p.Asp188=) c.249C= (p.Asp83=) c.150C= (p.Asp50=) c.771C= (p.Asp257=) c.456C= (p.Asp152=) | |
| 14 | g.24081485G>T | CA389278459 | NRL | c.465C>A (p.Asp155Glu) c.48C>A (p.Asp16Glu) c.564C>A (p.Asp188Glu) c.249C>A (p.Asp83Glu) c.150C>A (p.Asp50Glu) c.771C>A (p.Asp257Glu) c.456C>A (p.Asp152Glu) | gnomAD v4 |
| 14 | g.24081486T>A | CA389278461 | NRL | c.464A>T (p.Asp155Val) c.47A>T (p.Asp16Val) c.563A>T (p.Asp188Val) c.248A>T (p.Asp83Val) c.149A>T (p.Asp50Val) c.770A>T (p.Asp257Val) c.455A>T (p.Asp152Val) | |
| 14 | g.24081486T>C | CA389278465 | NRL | c.464A>G (p.Asp155Gly) c.47A>G (p.Asp16Gly) c.563A>G (p.Asp188Gly) c.248A>G (p.Asp83Gly) c.149A>G (p.Asp50Gly) c.770A>G (p.Asp257Gly) c.455A>G (p.Asp152Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081486T>G | CA389278467 | NRL | c.464A>C (p.Asp155Ala) c.47A>C (p.Asp16Ala) c.563A>C (p.Asp188Ala) c.248A>C (p.Asp83Ala) c.149A>C (p.Asp50Ala) c.770A>C (p.Asp257Ala) c.455A>C (p.Asp152Ala) | |
| 14 | g.24081486T= | CA2123777825 | NRL | c.464A= (p.Asp155=) c.47A= (p.Asp16=) c.563A= (p.Asp188=) c.248A= (p.Asp83=) c.149A= (p.Asp50=) c.770A= (p.Asp257=) c.455A= (p.Asp152=) | |
| 14 | g.24081487C>A | CA389278475 | NRL | c.463G>T (p.Asp155Tyr) c.46G>T (p.Asp16Tyr) c.562G>T (p.Asp188Tyr) c.247G>T (p.Asp83Tyr) c.148G>T (p.Asp50Tyr) c.769G>T (p.Asp257Tyr) c.454G>T (p.Asp152Tyr) | gnomAD v4 |
| 14 | g.24081487C>G | CA389278470 | NRL | c.463G>C (p.Asp155His) c.46G>C (p.Asp16His) c.562G>C (p.Asp188His) c.247G>C (p.Asp83His) c.148G>C (p.Asp50His) c.769G>C (p.Asp257His) c.454G>C (p.Asp152His) | gnomAD v4 COSMIC |
| 14 | g.24081487C>T | CA389278471 | NRL | c.463G>A (p.Asp155Asn) c.46G>A (p.Asp16Asn) c.562G>A (p.Asp188Asn) c.247G>A (p.Asp83Asn) c.148G>A (p.Asp50Asn) c.769G>A (p.Asp257Asn) c.454G>A (p.Asp152Asn) | gnomAD v4 |
| 14 | g.24081488G>A | CA485775998 | NRL | c.462C>T (p.Arg154=) c.45C>T (p.Arg15=) c.561C>T (p.Arg187=) c.246C>T (p.Arg82=) c.147C>T (p.Arg49=) c.768C>T (p.Arg256=) c.453C>T (p.Arg151=) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081488G>C | CA485775999 | NRL | c.462C>G (p.Arg154=) c.45C>G (p.Arg15=) c.561C>G (p.Arg187=) c.246C>G (p.Arg82=) c.147C>G (p.Arg49=) c.768C>G (p.Arg256=) c.453C>G (p.Arg151=) | |
| 14 | g.24081488G= | CA2123777830 | NRL | c.462C= (p.Arg154=) c.45C= (p.Arg15=) c.561C= (p.Arg187=) c.246C= (p.Arg82=) c.147C= (p.Arg49=) c.768C= (p.Arg256=) c.453C= (p.Arg151=) | |
| 14 | g.24081488G>T | CA7122829 | NRL | c.462C>A (p.Arg154=) c.45C>A (p.Arg15=) c.561C>A (p.Arg187=) c.246C>A (p.Arg82=) c.147C>A (p.Arg49=) c.768C>A (p.Arg256=) c.453C>A (p.Arg151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081488_24081509delinsGCGCCCGCAGCCCCGCAGCTGC | CA2123777834 | NRL | c.441_462delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg147=) c.24_45delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg8=) c.540_561delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg180=) c.225_246delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg75=) c.126_147delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg42=) c.747_768delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg249=) c.432_453delinsGCAGCTGCGGGGCTGCGGGCGC (p.Arg144=) | |
| 14 | g.24081489C>A | CA7122830 | NRL | c.461G>T (p.Arg154Leu) c.44G>T (p.Arg15Leu) c.560G>T (p.Arg187Leu) c.245G>T (p.Arg82Leu) c.146G>T (p.Arg49Leu) c.767G>T (p.Arg256Leu) c.452G>T (p.Arg151Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.24081489C= | CA2123777841 | NRL | c.461G= (p.Arg154=) c.44G= (p.Arg15=) c.560G= (p.Arg187=) c.245G= (p.Arg82=) c.146G= (p.Arg49=) c.767G= (p.Arg256=) c.452G= (p.Arg151=) | |
| 14 | g.24081489C>G | CA389278487 | NRL | c.461G>C (p.Arg154Pro) c.44G>C (p.Arg15Pro) c.560G>C (p.Arg187Pro) c.245G>C (p.Arg82Pro) c.146G>C (p.Arg49Pro) c.767G>C (p.Arg256Pro) c.452G>C (p.Arg151Pro) | |
| 14 | g.24081489C>T | CA389278490 | NRL | c.461G>A (p.Arg154His) c.44G>A (p.Arg15His) c.560G>A (p.Arg187His) c.245G>A (p.Arg82His) c.146G>A (p.Arg49His) c.767G>A (p.Arg256His) c.452G>A (p.Arg151His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.24081491_24081511del | CA613319081 | NRL | c.441_461del (p.Gln148_Arg154del) c.24_44del (p.Gln9_Arg15del) c.540_560del (p.Gln181_Arg187del) c.225_245del (p.Gln76_Arg82del) c.126_146del (p.Gln43_Arg49del) c.747_767del (p.Gln250_Arg256del) c.432_452del (p.Gln145_Arg151del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081490G>A | CA389278498 | NRL | c.460C>T (p.Arg154Cys) c.43C>T (p.Arg15Cys) c.559C>T (p.Arg187Cys) c.244C>T (p.Arg82Cys) c.145C>T (p.Arg49Cys) c.766C>T (p.Arg256Cys) c.451C>T (p.Arg151Cys) | dbSNP gnomAD v4 |
| 14 | g.24081490G>C | CA389278501 | NRL | c.460C>G (p.Arg154Gly) c.43C>G (p.Arg15Gly) c.559C>G (p.Arg187Gly) c.244C>G (p.Arg82Gly) c.145C>G (p.Arg49Gly) c.766C>G (p.Arg256Gly) c.451C>G (p.Arg151Gly) | |
| 14 | g.24081490G= | CA2123777846 | NRL | c.460C= (p.Arg154=) c.43C= (p.Arg15=) c.559C= (p.Arg187=) c.244C= (p.Arg82=) c.145C= (p.Arg49=) c.766C= (p.Arg256=) c.451C= (p.Arg151=) | |
| 14 | g.24081490G>T | CA389278503 | NRL | c.460C>A (p.Arg154Ser) c.43C>A (p.Arg15Ser) c.559C>A (p.Arg187Ser) c.244C>A (p.Arg82Ser) c.145C>A (p.Arg49Ser) c.766C>A (p.Arg256Ser) c.451C>A (p.Arg151Ser) | gnomAD v4 |
| 14 | g.24081490_24081498delinsGCCCGCAGC | CA2123777847 | NRL | c.452_460delinsGCTGCGGGC (p.Gly151=) c.35_43delinsGCTGCGGGC (p.Gly12=) c.551_559delinsGCTGCGGGC (p.Gly184=) c.236_244delinsGCTGCGGGC (p.Gly79=) c.137_145delinsGCTGCGGGC (p.Gly46=) c.758_766delinsGCTGCGGGC (p.Gly253=) c.443_451delinsGCTGCGGGC (p.Gly148=) | |
| 14 | g.24081491C>A | CA485776004 | NRL | c.459G>T (p.Gly153=) c.42G>T (p.Gly14=) c.558G>T (p.Gly186=) c.243G>T (p.Gly81=) c.144G>T (p.Gly48=) c.765G>T (p.Gly255=) c.450G>T (p.Gly150=) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.24081491C= | CA2123777852 | NRL | c.459G= (p.Gly153=) c.42G= (p.Gly14=) c.558G= (p.Gly186=) c.243G= (p.Gly81=) c.144G= (p.Gly48=) c.765G= (p.Gly255=) c.450G= (p.Gly150=) | |
| 14 | g.24081491C>G | CA485776006 | NRL | c.459G>C (p.Gly153=) c.42G>C (p.Gly14=) c.558G>C (p.Gly186=) c.243G>C (p.Gly81=) c.144G>C (p.Gly48=) c.765G>C (p.Gly255=) c.450G>C (p.Gly150=) | |
| 14 | g.24081491C>T | CA485776007 | NRL | c.459G>A (p.Gly153=) c.42G>A (p.Gly14=) c.558G>A (p.Gly186=) c.243G>A (p.Gly81=) c.144G>A (p.Gly48=) c.765G>A (p.Gly255=) c.450G>A (p.Gly150=) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081499_24081506dup | CA2575490424 | NRL | c.452_459dup (p.Arg154AlafsTer10) c.35_42dup (p.Arg15AlafsTer10) c.551_558dup (p.Arg187AlafsTer10) c.236_243dup (p.Arg82AlafsTer10) c.137_144dup (p.Arg49AlafsTer10) c.758_765dup (p.Arg256AlafsTer10) c.443_450dup (p.Arg151AlafsTer10) | |
| 14 | g.24081499_24081506del | CA2123777850 | NRL | c.452_459del (p.Gly151AlafsTer?) c.35_42del (p.Gly12AlafsTer?) c.551_558del (p.Gly184AlafsTer?) c.236_243del (p.Gly79AlafsTer?) c.137_144del (p.Gly46AlafsTer?) c.758_765del (p.Gly253AlafsTer?) c.443_450del (p.Gly148AlafsTer?) | dbSNP gnomAD v4 |
| 14 | g.24081492C>A | CA389278504 | NRL | c.458G>T (p.Gly153Val) c.41G>T (p.Gly14Val) c.557G>T (p.Gly186Val) c.242G>T (p.Gly81Val) c.143G>T (p.Gly48Val) c.764G>T (p.Gly255Val) c.449G>T (p.Gly150Val) | gnomAD v4 |
| 14 | g.24081492C= | CA2123777860 | NRL | c.458G= (p.Gly153=) c.41G= (p.Gly14=) c.557G= (p.Gly186=) c.242G= (p.Gly81=) c.143G= (p.Gly48=) c.764G= (p.Gly255=) c.449G= (p.Gly150=) | |
| 14 | g.24081492C>G | CA389278506 | NRL | c.458G>C (p.Gly153Ala) c.41G>C (p.Gly14Ala) c.557G>C (p.Gly186Ala) c.242G>C (p.Gly81Ala) c.143G>C (p.Gly48Ala) c.764G>C (p.Gly255Ala) c.449G>C (p.Gly150Ala) | |
| 14 | g.24081492C>T | CA389278507 | NRL | c.458G>A (p.Gly153Glu) c.41G>A (p.Gly14Glu) c.557G>A (p.Gly186Glu) c.242G>A (p.Gly81Glu) c.143G>A (p.Gly48Glu) c.764G>A (p.Gly255Glu) c.449G>A (p.Gly150Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.24081493C>A | CA389278509 | NRL | c.457G>T (p.Gly153Trp) c.40G>T (p.Gly14Trp) c.556G>T (p.Gly186Trp) c.241G>T (p.Gly81Trp) c.142G>T (p.Gly48Trp) c.763G>T (p.Gly255Trp) c.448G>T (p.Gly150Trp) | gnomAD v4 |
| 14 | g.24081493C>G | CA389278511 | NRL | c.457G>C (p.Gly153Arg) c.40G>C (p.Gly14Arg) c.556G>C (p.Gly186Arg) c.241G>C (p.Gly81Arg) c.142G>C (p.Gly48Arg) c.763G>C (p.Gly255Arg) c.448G>C (p.Gly150Arg) | |
| 14 | g.24081493C>T | CA389278508 | NRL | c.457G>A (p.Gly153Arg) c.40G>A (p.Gly14Arg) c.556G>A (p.Gly186Arg) c.241G>A (p.Gly81Arg) c.142G>A (p.Gly48Arg) c.763G>A (p.Gly255Arg) c.448G>A (p.Gly150Arg) | gnomAD v4 |
| 14 | g.24081494G>A | CA485776008 | NRL | c.456C>T (p.Cys152=) c.39C>T (p.Cys13=) c.555C>T (p.Cys185=) c.240C>T (p.Cys80=) c.141C>T (p.Cys47=) c.762C>T (p.Cys254=) c.447C>T (p.Cys149=) | dbSNP gnomAD v4 |
| 14 | g.24081494G>C | CA389278513 | NRL | c.456C>G (p.Cys152Trp) c.39C>G (p.Cys13Trp) c.555C>G (p.Cys185Trp) c.240C>G (p.Cys80Trp) c.141C>G (p.Cys47Trp) c.762C>G (p.Cys254Trp) c.447C>G (p.Cys149Trp) | |
| 14 | g.24081494G= | CA2123777867 | NRL | c.456C= (p.Cys152=) c.39C= (p.Cys13=) c.555C= (p.Cys185=) c.240C= (p.Cys80=) c.141C= (p.Cys47=) c.762C= (p.Cys254=) c.447C= (p.Cys149=) | |
| 14 | g.24081494G>T | CA389278516 | NRL | c.456C>A (p.Cys152Ter) c.39C>A (p.Cys13Ter) c.555C>A (p.Cys185Ter) c.240C>A (p.Cys80Ter) c.141C>A (p.Cys47Ter) c.762C>A (p.Cys254Ter) c.447C>A (p.Cys149Ter) | gnomAD v4 |
| 14 | g.24081495C>A | CA389278518 | NRL | c.455G>T (p.Cys152Phe) c.38G>T (p.Cys13Phe) c.554G>T (p.Cys185Phe) c.239G>T (p.Cys80Phe) c.140G>T (p.Cys47Phe) c.761G>T (p.Cys254Phe) c.446G>T (p.Cys149Phe) | |
| 14 | g.24081495C>G | CA389278519 | NRL | c.455G>C (p.Cys152Ser) c.38G>C (p.Cys13Ser) c.554G>C (p.Cys185Ser) c.239G>C (p.Cys80Ser) c.140G>C (p.Cys47Ser) c.761G>C (p.Cys254Ser) c.446G>C (p.Cys149Ser) | |
| 14 | g.24081495C>T | CA389278520 | NRL | c.455G>A (p.Cys152Tyr) c.38G>A (p.Cys13Tyr) c.554G>A (p.Cys185Tyr) c.239G>A (p.Cys80Tyr) c.140G>A (p.Cys47Tyr) c.761G>A (p.Cys254Tyr) c.446G>A (p.Cys149Tyr) | gnomAD v4 |
| 14 | g.24081496A= | CA2123777868 | NRL | c.454T= (p.Cys152=) c.37T= (p.Cys13=) c.553T= (p.Cys185=) c.238T= (p.Cys80=) c.139T= (p.Cys47=) c.760T= (p.Cys254=) c.445T= (p.Cys149=) | |
| 14 | g.24081496A>C | CA389278522 | NRL | c.454T>G (p.Cys152Gly) c.37T>G (p.Cys13Gly) c.553T>G (p.Cys185Gly) c.238T>G (p.Cys80Gly) c.139T>G (p.Cys47Gly) c.760T>G (p.Cys254Gly) c.445T>G (p.Cys149Gly) | dbSNP gnomAD v4 |
| 14 | g.24081496A>G | CA389278532 | NRL | c.454T>C (p.Cys152Arg) c.37T>C (p.Cys13Arg) c.553T>C (p.Cys185Arg) c.238T>C (p.Cys80Arg) c.139T>C (p.Cys47Arg) c.760T>C (p.Cys254Arg) c.445T>C (p.Cys149Arg) | gnomAD v4 |
| 14 | g.24081496A>T | CA389278537 | NRL | c.454T>A (p.Cys152Ser) c.37T>A (p.Cys13Ser) c.553T>A (p.Cys185Ser) c.238T>A (p.Cys80Ser) c.139T>A (p.Cys47Ser) c.760T>A (p.Cys254Ser) c.445T>A (p.Cys149Ser) | COSMIC |
| 14 | g.24081497G>A | CA485776015 | NRL | c.453C>T (p.Gly151=) c.36C>T (p.Gly12=) c.552C>T (p.Gly184=) c.237C>T (p.Gly79=) c.138C>T (p.Gly46=) c.759C>T (p.Gly253=) c.444C>T (p.Gly148=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081497G>C | CA485776016 | NRL | c.453C>G (p.Gly151=) c.36C>G (p.Gly12=) c.552C>G (p.Gly184=) c.237C>G (p.Gly79=) c.138C>G (p.Gly46=) c.759C>G (p.Gly253=) c.444C>G (p.Gly148=) | |
| 14 | g.24081497G= | CA2123777871 | NRL | c.453C= (p.Gly151=) c.36C= (p.Gly12=) c.552C= (p.Gly184=) c.237C= (p.Gly79=) c.138C= (p.Gly46=) c.759C= (p.Gly253=) c.444C= (p.Gly148=) | |
| 14 | g.24081497G>T | CA485776017 | NRL | c.453C>A (p.Gly151=) c.36C>A (p.Gly12=) c.552C>A (p.Gly184=) c.237C>A (p.Gly79=) c.138C>A (p.Gly46=) c.759C>A (p.Gly253=) c.444C>A (p.Gly148=) | gnomAD v4 |
| 14 | g.24081498C>A | CA389278542 | NRL | c.452G>T (p.Gly151Val) c.35G>T (p.Gly12Val) c.551G>T (p.Gly184Val) c.236G>T (p.Gly79Val) c.137G>T (p.Gly46Val) c.758G>T (p.Gly253Val) c.443G>T (p.Gly148Val) | gnomAD v4 |
| 14 | g.24081498C= | CA2123777873 | NRL | c.452G= (p.Gly151=) c.35G= (p.Gly12=) c.551G= (p.Gly184=) c.236G= (p.Gly79=) c.137G= (p.Gly46=) c.758G= (p.Gly253=) c.443G= (p.Gly148=) | |
| 14 | g.24081498C>G | CA389278543 | NRL | c.452G>C (p.Gly151Ala) c.35G>C (p.Gly12Ala) c.551G>C (p.Gly184Ala) c.236G>C (p.Gly79Ala) c.137G>C (p.Gly46Ala) c.758G>C (p.Gly253Ala) c.443G>C (p.Gly148Ala) | |
| 14 | g.24081498C>T | CA389278545 | NRL | c.452G>A (p.Gly151Asp) c.35G>A (p.Gly12Asp) c.551G>A (p.Gly184Asp) c.236G>A (p.Gly79Asp) c.137G>A (p.Gly46Asp) c.758G>A (p.Gly253Asp) c.443G>A (p.Gly148Asp) | dbSNP gnomAD v2 |
| 14 | g.24081499C>A | CA389278548 | NRL | c.451G>T (p.Gly151Cys) c.34G>T (p.Gly12Cys) c.550G>T (p.Gly184Cys) c.235G>T (p.Gly79Cys) c.136G>T (p.Gly46Cys) c.757G>T (p.Gly253Cys) c.442G>T (p.Gly148Cys) | gnomAD v4 |
| 14 | g.24081499C= | CA2123777875 | NRL | c.451G= (p.Gly151=) c.34G= (p.Gly12=) c.550G= (p.Gly184=) c.235G= (p.Gly79=) c.136G= (p.Gly46=) c.757G= (p.Gly253=) c.442G= (p.Gly148=) | |
| 14 | g.24081499C>G | CA389278558 | NRL | c.451G>C (p.Gly151Arg) c.34G>C (p.Gly12Arg) c.550G>C (p.Gly184Arg) c.235G>C (p.Gly79Arg) c.136G>C (p.Gly46Arg) c.757G>C (p.Gly253Arg) c.442G>C (p.Gly148Arg) | |
| 14 | g.24081499C>T | CA389278546 | NRL | c.451G>A (p.Gly151Ser) c.34G>A (p.Gly12Ser) c.550G>A (p.Gly184Ser) c.235G>A (p.Gly79Ser) c.136G>A (p.Gly46Ser) c.757G>A (p.Gly253Ser) c.442G>A (p.Gly148Ser) | dbSNP |
| 14 | g.24081500C>A | CA485776019 | NRL | c.450G>T (p.Arg150=) c.33G>T (p.Arg11=) c.549G>T (p.Arg183=) c.234G>T (p.Arg78=) c.135G>T (p.Arg45=) c.756G>T (p.Arg252=) c.441G>T (p.Arg147=) | gnomAD v4 |
| 14 | g.24081500C= | CA2123777879 | NRL | c.450G= (p.Arg150=) c.33G= (p.Arg11=) c.549G= (p.Arg183=) c.234G= (p.Arg78=) c.135G= (p.Arg45=) c.756G= (p.Arg252=) c.441G= (p.Arg147=) | |
| 14 | g.24081500C>G | CA7122831 | NRL | c.450G>C (p.Arg150=) c.33G>C (p.Arg11=) c.549G>C (p.Arg183=) c.234G>C (p.Arg78=) c.135G>C (p.Arg45=) c.756G>C (p.Arg252=) c.441G>C (p.Arg147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081500C>T | CA7122832 | NRL | c.450G>A (p.Arg150=) c.33G>A (p.Arg11=) c.549G>A (p.Arg183=) c.234G>A (p.Arg78=) c.135G>A (p.Arg45=) c.756G>A (p.Arg252=) c.441G>A (p.Arg147=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081501C>A | CA389278567 | NRL | c.449G>T (p.Arg150Leu) c.32G>T (p.Arg11Leu) c.548G>T (p.Arg183Leu) c.233G>T (p.Arg78Leu) c.134G>T (p.Arg45Leu) c.755G>T (p.Arg252Leu) c.440G>T (p.Arg147Leu) | gnomAD v4 |
| 14 | g.24081501C>G | CA389278571 | NRL | c.449G>C (p.Arg150Pro) c.32G>C (p.Arg11Pro) c.548G>C (p.Arg183Pro) c.233G>C (p.Arg78Pro) c.134G>C (p.Arg45Pro) c.755G>C (p.Arg252Pro) c.440G>C (p.Arg147Pro) | |
| 14 | g.24081501C>T | CA389278575 | NRL | c.449G>A (p.Arg150Gln) c.32G>A (p.Arg11Gln) c.548G>A (p.Arg183Gln) c.233G>A (p.Arg78Gln) c.134G>A (p.Arg45Gln) c.755G>A (p.Arg252Gln) c.440G>A (p.Arg147Gln) | gnomAD v4 |
| 14 | g.24081502G>A | CA389278579 | NRL | c.448C>T (p.Arg150Trp) c.31C>T (p.Arg11Trp) c.547C>T (p.Arg183Trp) c.232C>T (p.Arg78Trp) c.133C>T (p.Arg45Trp) c.754C>T (p.Arg252Trp) c.439C>T (p.Arg147Trp) | gnomAD v4 |
| 14 | g.24081502G>C | CA389278577 | NRL | c.448C>G (p.Arg150Gly) c.31C>G (p.Arg11Gly) c.547C>G (p.Arg183Gly) c.232C>G (p.Arg78Gly) c.133C>G (p.Arg45Gly) c.754C>G (p.Arg252Gly) c.439C>G (p.Arg147Gly) | |
| 14 | g.24081502G>T | CA485776024 | NRL | c.448C>A (p.Arg150=) c.31C>A (p.Arg11=) c.547C>A (p.Arg183=) c.232C>A (p.Arg78=) c.133C>A (p.Arg45=) c.754C>A (p.Arg252=) c.439C>A (p.Arg147=) | gnomAD v4 |
| 14 | g.24081503C>A | CA485776027 | NRL | c.447G>T (p.Leu149=) c.30G>T (p.Leu10=) c.546G>T (p.Leu182=) c.231G>T (p.Leu77=) c.132G>T (p.Leu44=) c.753G>T (p.Leu251=) c.438G>T (p.Leu146=) | gnomAD v4 |
| 14 | g.24081503C>G | CA485776026 | NRL | c.447G>C (p.Leu149=) c.30G>C (p.Leu10=) c.546G>C (p.Leu182=) c.231G>C (p.Leu77=) c.132G>C (p.Leu44=) c.753G>C (p.Leu251=) c.438G>C (p.Leu146=) | |
| 14 | g.24081503C>T | CA485776025 | NRL | c.447G>A (p.Leu149=) c.30G>A (p.Leu10=) c.546G>A (p.Leu182=) c.231G>A (p.Leu77=) c.132G>A (p.Leu44=) c.753G>A (p.Leu251=) c.438G>A (p.Leu146=) | gnomAD v4 |
| 14 | g.24081504A= | CA2123777885 | NRL | c.446T= (p.Leu149=) c.29T= (p.Leu10=) c.545T= (p.Leu182=) c.230T= (p.Leu77=) c.131T= (p.Leu44=) c.752T= (p.Leu251=) c.437T= (p.Leu146=) | |
| 14 | g.24081504A>C | CA389278582 | NRL | c.446T>G (p.Leu149Arg) c.29T>G (p.Leu10Arg) c.545T>G (p.Leu182Arg) c.230T>G (p.Leu77Arg) c.131T>G (p.Leu44Arg) c.752T>G (p.Leu251Arg) c.437T>G (p.Leu146Arg) | |
| 14 | g.24081504A>G | CA257868123 | NRL | c.446T>C (p.Leu149Pro) c.29T>C (p.Leu10Pro) c.545T>C (p.Leu182Pro) c.230T>C (p.Leu77Pro) c.131T>C (p.Leu44Pro) c.752T>C (p.Leu251Pro) c.437T>C (p.Leu146Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.24081504A>T | CA389278587 | NRL | c.446T>A (p.Leu149Gln) c.29T>A (p.Leu10Gln) c.545T>A (p.Leu182Gln) c.230T>A (p.Leu77Gln) c.131T>A (p.Leu44Gln) c.752T>A (p.Leu251Gln) c.437T>A (p.Leu146Gln) | |
| 14 | g.24081505G>A | CA485776029 | NRL | c.445C>T (p.Leu149=) c.28C>T (p.Leu10=) c.544C>T (p.Leu182=) c.229C>T (p.Leu77=) c.130C>T (p.Leu44=) c.751C>T (p.Leu251=) c.436C>T (p.Leu146=) | dbSNP gnomAD v4 |
| 14 | g.24081505G>C | CA389278590 | NRL | c.445C>G (p.Leu149Val) c.28C>G (p.Leu10Val) c.544C>G (p.Leu182Val) c.229C>G (p.Leu77Val) c.130C>G (p.Leu44Val) c.751C>G (p.Leu251Val) c.436C>G (p.Leu146Val) | gnomAD v4 |
| 14 | g.24081505G= | CA2123777890 | NRL | c.445C= (p.Leu149=) c.28C= (p.Leu10=) c.544C= (p.Leu182=) c.229C= (p.Leu77=) c.130C= (p.Leu44=) c.751C= (p.Leu251=) c.436C= (p.Leu146=) | |
| 14 | g.24081505G>T | CA389278605 | NRL | c.445C>A (p.Leu149Met) c.28C>A (p.Leu10Met) c.544C>A (p.Leu182Met) c.229C>A (p.Leu77Met) c.130C>A (p.Leu44Met) c.751C>A (p.Leu251Met) c.436C>A (p.Leu146Met) | gnomAD v4 |
| 14 | g.24081506C>A | CA389278611 | NRL | c.444G>T (p.Gln148His) c.27G>T (p.Gln9His) c.543G>T (p.Gln181His) c.228G>T (p.Gln76His) c.129G>T (p.Gln43His) c.750G>T (p.Gln250His) c.435G>T (p.Gln145His) | gnomAD v4 |
| 14 | g.24081506C>G | CA389278613 | NRL | c.444G>C (p.Gln148His) c.27G>C (p.Gln9His) c.543G>C (p.Gln181His) c.228G>C (p.Gln76His) c.129G>C (p.Gln43His) c.750G>C (p.Gln250His) c.435G>C (p.Gln145His) | |
| 14 | g.24081506C>T | CA485776036 | NRL | c.444G>A (p.Gln148=) c.27G>A (p.Gln9=) c.543G>A (p.Gln181=) c.228G>A (p.Gln76=) c.129G>A (p.Gln43=) c.750G>A (p.Gln250=) c.435G>A (p.Gln145=) | gnomAD v4 |
| 14 | g.24081506_24081507insCCGCAGCC | CA915948936 | NRL | c.444_445insGCTGCGGG (p.Leu149AlafsTer15) c.27_28insGCTGCGGG (p.Leu10AlafsTer15) c.543_544insGCTGCGGG (p.Leu182AlafsTer15) c.228_229insGCTGCGGG (p.Leu77AlafsTer15) c.129_130insGCTGCGGG (p.Leu44AlafsTer15) c.750_751insGCTGCGGG (p.Leu251AlafsTer15) c.435_436insGCTGCGGG (p.Leu146AlafsTer15) | ClinVar dbSNP |
| 14 | g.24081507T>A | CA389278620 | NRL | c.443A>T (p.Gln148Leu) c.26A>T (p.Gln9Leu) c.542A>T (p.Gln181Leu) c.227A>T (p.Gln76Leu) c.128A>T (p.Gln43Leu) c.749A>T (p.Gln250Leu) c.434A>T (p.Gln145Leu) | |
| 14 | g.24081507T>C | CA389278631 | NRL | c.443A>G (p.Gln148Arg) c.26A>G (p.Gln9Arg) c.542A>G (p.Gln181Arg) c.227A>G (p.Gln76Arg) c.128A>G (p.Gln43Arg) c.749A>G (p.Gln250Arg) c.434A>G (p.Gln145Arg) | gnomAD v4 |
| 14 | g.24081507T>G | CA389278617 | NRL | c.443A>C (p.Gln148Pro) c.26A>C (p.Gln9Pro) c.542A>C (p.Gln181Pro) c.227A>C (p.Gln76Pro) c.128A>C (p.Gln43Pro) c.749A>C (p.Gln250Pro) c.434A>C (p.Gln145Pro) | gnomAD v4 |
| 14 | g.24081508G>A | CA389278635 | NRL | c.442C>T (p.Gln148Ter) c.25C>T (p.Gln9Ter) c.541C>T (p.Gln181Ter) c.226C>T (p.Gln76Ter) c.127C>T (p.Gln43Ter) c.748C>T (p.Gln250Ter) c.433C>T (p.Gln145Ter) | dbSNP gnomAD v4 |
| 14 | g.24081508G>C | CA389278638 | NRL | c.442C>G (p.Gln148Glu) c.25C>G (p.Gln9Glu) c.541C>G (p.Gln181Glu) c.226C>G (p.Gln76Glu) c.127C>G (p.Gln43Glu) c.748C>G (p.Gln250Glu) c.433C>G (p.Gln145Glu) | |
| 14 | g.24081508G= | CA2123777900 | NRL | c.442C= (p.Gln148=) c.25C= (p.Gln9=) c.541C= (p.Gln181=) c.226C= (p.Gln76=) c.127C= (p.Gln43=) c.748C= (p.Gln250=) c.433C= (p.Gln145=) | |
| 14 | g.24081508G>T | CA389278641 | NRL | c.442C>A (p.Gln148Lys) c.25C>A (p.Gln9Lys) c.541C>A (p.Gln181Lys) c.226C>A (p.Gln76Lys) c.127C>A (p.Gln43Lys) c.748C>A (p.Gln250Lys) c.433C>A (p.Gln145Lys) | gnomAD v4 |
| 14 | g.24081509C>A | CA485776044 | NRL | c.441G>T (p.Arg147=) c.24G>T (p.Arg8=) c.540G>T (p.Arg180=) c.225G>T (p.Arg75=) c.126G>T (p.Arg42=) c.747G>T (p.Arg249=) c.432G>T (p.Arg144=) | |
| 14 | g.24081509C= | CA2123777906 | NRL | c.441G= (p.Arg147=) c.24G= (p.Arg8=) c.540G= (p.Arg180=) c.225G= (p.Arg75=) c.126G= (p.Arg42=) c.747G= (p.Arg249=) c.432G= (p.Arg144=) | |
| 14 | g.24081509C>G | CA485776045 | NRL | c.441G>C (p.Arg147=) c.24G>C (p.Arg8=) c.540G>C (p.Arg180=) c.225G>C (p.Arg75=) c.126G>C (p.Arg42=) c.747G>C (p.Arg249=) c.432G>C (p.Arg144=) | gnomAD v4 |
| 14 | g.24081509C>T | CA7122833 | NRL | c.441G>A (p.Arg147=) c.24G>A (p.Arg8=) c.540G>A (p.Arg180=) c.225G>A (p.Arg75=) c.126G>A (p.Arg42=) c.747G>A (p.Arg249=) c.432G>A (p.Arg144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.24081510C>A | CA257868126 | NRL | c.440G>T (p.Arg147Leu) c.23G>T (p.Arg8Leu) c.539G>T (p.Arg180Leu) c.224G>T (p.Arg75Leu) c.125G>T (p.Arg42Leu) c.746G>T (p.Arg249Leu) c.431G>T (p.Arg144Leu) | dbSNP gnomAD v4 |
| 14 | g.24081510C= | CA2123777911 | NRL | c.440G= (p.Arg147=) c.23G= (p.Arg8=) c.539G= (p.Arg180=) c.224G= (p.Arg75=) c.125G= (p.Arg42=) c.746G= (p.Arg249=) c.431G= (p.Arg144=) | |
| 14 | g.24081510C>G | CA389278657 | NRL | c.440G>C (p.Arg147Pro) c.23G>C (p.Arg8Pro) c.539G>C (p.Arg180Pro) c.224G>C (p.Arg75Pro) c.125G>C (p.Arg42Pro) c.746G>C (p.Arg249Pro) c.431G>C (p.Arg144Pro) | gnomAD v4 |
| 14 | g.24081510C>T | CA389278658 | NRL | c.440G>A (p.Arg147Gln) c.23G>A (p.Arg8Gln) c.539G>A (p.Arg180Gln) c.224G>A (p.Arg75Gln) c.125G>A (p.Arg42Gln) c.746G>A (p.Arg249Gln) c.431G>A (p.Arg144Gln) | dbSNP gnomAD v2 gnomAD v4 |