Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24081488_24081509delinsGCGCCCGCAGCCCCGCAGCTGCCA2123777834NRLc.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=)
14g.24081491_24081511delCA613319081NRLc.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
14g.24081507T>ACA389278620NRLc.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)
14g.24081507T>CCA389278631NRLc.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
14g.24081507T>GCA389278617NRLc.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
14g.24081508G>ACA389278635NRLc.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
14g.24081508G>CCA389278638NRLc.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)
14g.24081508G=CA2123777900NRLc.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=)
14g.24081508G>TCA389278641NRLc.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
14g.24081509C>ACA485776044NRLc.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=)
14g.24081509C=CA2123777906NRLc.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=)
14g.24081509C>GCA485776045NRLc.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
14g.24081509C>TCA7122833NRLc.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
14g.24081510C>ACA257868126NRLc.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
14g.24081510C=CA2123777911NRLc.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=)
14g.24081510C>GCA389278657NRLc.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
14g.24081510C>TCA389278658NRLc.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
14g.24081511G>ACA7122834NRLc.439C>T (p.Arg147Trp)
c.22C>T (p.Arg8Trp)
c.538C>T (p.Arg180Trp)
c.223C>T (p.Arg75Trp)
c.124C>T (p.Arg42Trp)
c.745C>T (p.Arg249Trp)
c.430C>T (p.Arg144Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081511G>CCA389278659NRLc.439C>G (p.Arg147Gly)
c.22C>G (p.Arg8Gly)
c.538C>G (p.Arg180Gly)
c.223C>G (p.Arg75Gly)
c.124C>G (p.Arg42Gly)
c.745C>G (p.Arg249Gly)
c.430C>G (p.Arg144Gly)
14g.24081511G=CA2123777917NRLc.439C= (p.Arg147=)
c.22C= (p.Arg8=)
c.538C= (p.Arg180=)
c.223C= (p.Arg75=)
c.124C= (p.Arg42=)
c.745C= (p.Arg249=)
c.430C= (p.Arg144=)
14g.24081511G>TCA485776051NRLc.439C>A (p.Arg147=)
c.22C>A (p.Arg8=)
c.538C>A (p.Arg180=)
c.223C>A (p.Arg75=)
c.124C>A (p.Arg42=)
c.745C>A (p.Arg249=)
c.430C>A (p.Arg144=)
dbSNP gnomAD v2 gnomAD v4
14g.24081512G>ACA485776052NRLc.438C>T (p.Asn146=)
c.21C>T (p.Asn7=)
c.537C>T (p.Asn179=)
c.222C>T (p.Asn74=)
c.123C>T (p.Asn41=)
c.744C>T (p.Asn248=)
c.429C>T (p.Asn143=)
dbSNP gnomAD v2 gnomAD v4
14g.24081512G>CCA389278660NRLc.438C>G (p.Asn146Lys)
c.21C>G (p.Asn7Lys)
c.537C>G (p.Asn179Lys)
c.222C>G (p.Asn74Lys)
c.123C>G (p.Asn41Lys)
c.744C>G (p.Asn248Lys)
c.429C>G (p.Asn143Lys)
gnomAD v4
14g.24081512G=CA2123777924NRLc.438C= (p.Asn146=)
c.21C= (p.Asn7=)
c.537C= (p.Asn179=)
c.222C= (p.Asn74=)
c.123C= (p.Asn41=)
c.744C= (p.Asn248=)
c.429C= (p.Asn143=)
14g.24081512G>TCA389278661NRLc.438C>A (p.Asn146Lys)
c.21C>A (p.Asn7Lys)
c.537C>A (p.Asn179Lys)
c.222C>A (p.Asn74Lys)
c.123C>A (p.Asn41Lys)
c.744C>A (p.Asn248Lys)
c.429C>A (p.Asn143Lys)
gnomAD v4
14g.24081513T>ACA389278664NRLc.437A>T (p.Asn146Ile)
c.20A>T (p.Asn7Ile)
c.536A>T (p.Asn179Ile)
c.221A>T (p.Asn74Ile)
c.122A>T (p.Asn41Ile)
c.743A>T (p.Asn248Ile)
c.428A>T (p.Asn143Ile)
14g.24081513T>CCA389278667NRLc.437A>G (p.Asn146Ser)
c.20A>G (p.Asn7Ser)
c.536A>G (p.Asn179Ser)
c.221A>G (p.Asn74Ser)
c.122A>G (p.Asn41Ser)
c.743A>G (p.Asn248Ser)
c.428A>G (p.Asn143Ser)
14g.24081513T>GCA389278669NRLc.437A>C (p.Asn146Thr)
c.20A>C (p.Asn7Thr)
c.536A>C (p.Asn179Thr)
c.221A>C (p.Asn74Thr)
c.122A>C (p.Asn41Thr)
c.743A>C (p.Asn248Thr)
c.428A>C (p.Asn143Thr)
14g.24081514T>ACA389278692NRLc.436A>T (p.Asn146Tyr)
c.19A>T (p.Asn7Tyr)
c.535A>T (p.Asn179Tyr)
c.220A>T (p.Asn74Tyr)
c.121A>T (p.Asn41Tyr)
c.742A>T (p.Asn248Tyr)
c.427A>T (p.Asn143Tyr)
14g.24081514T>CCA389278687NRLc.436A>G (p.Asn146Asp)
c.19A>G (p.Asn7Asp)
c.535A>G (p.Asn179Asp)
c.220A>G (p.Asn74Asp)
c.121A>G (p.Asn41Asp)
c.742A>G (p.Asn248Asp)
c.427A>G (p.Asn143Asp)
14g.24081514T>GCA389278689NRLc.436A>C (p.Asn146His)
c.19A>C (p.Asn7His)
c.535A>C (p.Asn179His)
c.220A>C (p.Asn74His)
c.121A>C (p.Asn41His)
c.742A>C (p.Asn248His)
c.427A>C (p.Asn143His)
14g.24081515T>ACA485776053NRLc.435A>T (p.Leu145=)
c.18A>T (p.Leu6=)
c.534A>T (p.Leu178=)
c.219A>T (p.Leu73=)
c.120A>T (p.Leu40=)
c.741A>T (p.Leu247=)
c.426A>T (p.Leu142=)
14g.24081515T>CCA485776054NRLc.435A>G (p.Leu145=)
c.18A>G (p.Leu6=)
c.534A>G (p.Leu178=)
c.219A>G (p.Leu73=)
c.120A>G (p.Leu40=)
c.741A>G (p.Leu247=)
c.426A>G (p.Leu142=)
gnomAD v4
14g.24081515T>GCA485776055NRLc.435A>C (p.Leu145=)
c.18A>C (p.Leu6=)
c.534A>C (p.Leu178=)
c.219A>C (p.Leu73=)
c.120A>C (p.Leu40=)
c.741A>C (p.Leu247=)
c.426A>C (p.Leu142=)
14g.24081516A>CCA389278695NRLc.434T>G (p.Leu145Arg)
c.17T>G (p.Leu6Arg)
c.533T>G (p.Leu178Arg)
c.218T>G (p.Leu73Arg)
c.119T>G (p.Leu40Arg)
c.740T>G (p.Leu247Arg)
c.425T>G (p.Leu142Arg)
gnomAD v4
14g.24081516A>GCA389278699NRLc.434T>C (p.Leu145Pro)
c.17T>C (p.Leu6Pro)
c.533T>C (p.Leu178Pro)
c.218T>C (p.Leu73Pro)
c.119T>C (p.Leu40Pro)
c.740T>C (p.Leu247Pro)
c.425T>C (p.Leu142Pro)
gnomAD v4
14g.24081516A>TCA389278702NRLc.434T>A (p.Leu145Gln)
c.17T>A (p.Leu6Gln)
c.533T>A (p.Leu178Gln)
c.218T>A (p.Leu73Gln)
c.119T>A (p.Leu40Gln)
c.740T>A (p.Leu247Gln)
c.425T>A (p.Leu142Gln)
14g.24081517G>ACA485776056NRLc.433C>T (p.Leu145=)
c.16C>T (p.Leu6=)
c.532C>T (p.Leu178=)
c.217C>T (p.Leu73=)
c.118C>T (p.Leu40=)
c.739C>T (p.Leu247=)
c.424C>T (p.Leu142=)
gnomAD v4
14g.24081517G>CCA389278705NRLc.433C>G (p.Leu145Val)
c.16C>G (p.Leu6Val)
c.532C>G (p.Leu178Val)
c.217C>G (p.Leu73Val)
c.118C>G (p.Leu40Val)
c.739C>G (p.Leu247Val)
c.424C>G (p.Leu142Val)
gnomAD v4
14g.24081517G>TCA389278708NRLc.433C>A (p.Leu145Ile)
c.16C>A (p.Leu6Ile)
c.532C>A (p.Leu178Ile)
c.217C>A (p.Leu73Ile)
c.118C>A (p.Leu40Ile)
c.739C>A (p.Leu247Ile)
c.424C>A (p.Leu142Ile)
gnomAD v4
14g.24081518C>ACA389278713NRLc.432G>T (p.Glu144Asp)
c.15G>T (p.Glu5Asp)
c.531G>T (p.Glu177Asp)
c.216G>T (p.Glu72Asp)
c.117G>T (p.Glu39Asp)
c.738G>T (p.Glu246Asp)
c.423G>T (p.Glu141Asp)
gnomAD v4
14g.24081518C=CA2123777927NRLc.432G= (p.Glu144=)
c.15G= (p.Glu5=)
c.531G= (p.Glu177=)
c.216G= (p.Glu72=)
c.117G= (p.Glu39=)
c.738G= (p.Glu246=)
c.423G= (p.Glu141=)
14g.24081518C>GCA389278717NRLc.432G>C (p.Glu144Asp)
c.15G>C (p.Glu5Asp)
c.531G>C (p.Glu177Asp)
c.216G>C (p.Glu72Asp)
c.117G>C (p.Glu39Asp)
c.738G>C (p.Glu246Asp)
c.423G>C (p.Glu141Asp)
dbSNP
14g.24081518C>TCA257868141NRLc.432G>A (p.Glu144=)
c.15G>A (p.Glu5=)
c.531G>A (p.Glu177=)
c.216G>A (p.Glu72=)
c.117G>A (p.Glu39=)
c.738G>A (p.Glu246=)
c.423G>A (p.Glu141=)
dbSNP gnomAD v3 gnomAD v4
14g.24081519T>ACA389278719NRLc.431A>T (p.Glu144Val)
c.14A>T (p.Glu5Val)
c.530A>T (p.Glu177Val)
c.215A>T (p.Glu72Val)
c.116A>T (p.Glu39Val)
c.737A>T (p.Glu246Val)
c.422A>T (p.Glu141Val)
gnomAD v4
14g.24081519T>CCA389278722NRLc.431A>G (p.Glu144Gly)
c.14A>G (p.Glu5Gly)
c.530A>G (p.Glu177Gly)
c.215A>G (p.Glu72Gly)
c.116A>G (p.Glu39Gly)
c.737A>G (p.Glu246Gly)
c.422A>G (p.Glu141Gly)
14g.24081519T>GCA389278723NRLc.431A>C (p.Glu144Ala)
c.14A>C (p.Glu5Ala)
c.530A>C (p.Glu177Ala)
c.215A>C (p.Glu72Ala)
c.116A>C (p.Glu39Ala)
c.737A>C (p.Glu246Ala)
c.422A>C (p.Glu141Ala)
gnomAD v4
14g.24081520C>ACA389278727NRLc.430G>T (p.Glu144Ter)
c.13G>T (p.Glu5Ter)
c.529G>T (p.Glu177Ter)
c.214G>T (p.Glu72Ter)
c.115G>T (p.Glu39Ter)
c.736G>T (p.Glu246Ter)
c.421G>T (p.Glu141Ter)
gnomAD v4
14g.24081520C>GCA389278729NRLc.430G>C (p.Glu144Gln)
c.13G>C (p.Glu5Gln)
c.529G>C (p.Glu177Gln)
c.214G>C (p.Glu72Gln)
c.115G>C (p.Glu39Gln)
c.736G>C (p.Glu246Gln)
c.421G>C (p.Glu141Gln)
14g.24081520C>TCA389278731NRLc.430G>A (p.Glu144Lys)
c.13G>A (p.Glu5Lys)
c.529G>A (p.Glu177Lys)
c.214G>A (p.Glu72Lys)
c.115G>A (p.Glu39Lys)
c.736G>A (p.Glu246Lys)
c.421G>A (p.Glu141Lys)
gnomAD v4
14g.24081522delCA2624298875NRLc.430del (p.Glu144SerfsTer2)
c.13del (p.Glu5SerfsTer2)
c.529del (p.Glu177SerfsTer2)
c.214del (p.Glu72SerfsTer2)
c.115del (p.Glu39SerfsTer2)
c.736del (p.Glu246SerfsTer2)
c.421del (p.Glu141SerfsTer2)
gnomAD v4
14g.24081521C>ACA485776058NRLc.429G>T (p.Arg143=)
c.12G>T (p.Arg4=)
c.528G>T (p.Arg176=)
c.213G>T (p.Arg71=)
c.114G>T (p.Arg38=)
c.735G>T (p.Arg245=)
c.420G>T (p.Arg140=)
gnomAD v4
14g.24081521C>GCA485776059NRLc.429G>C (p.Arg143=)
c.12G>C (p.Arg4=)
c.528G>C (p.Arg176=)
c.213G>C (p.Arg71=)
c.114G>C (p.Arg38=)
c.735G>C (p.Arg245=)
c.420G>C (p.Arg140=)
14g.24081521C>TCA485776060NRLc.429G>A (p.Arg143=)
c.12G>A (p.Arg4=)
c.528G>A (p.Arg176=)
c.213G>A (p.Arg71=)
c.114G>A (p.Arg38=)
c.735G>A (p.Arg245=)
c.420G>A (p.Arg140=)
gnomAD v4
14g.24081522C>ACA389278735NRLc.428G>T (p.Arg143Leu)
c.11G>T (p.Arg4Leu)
c.527G>T (p.Arg176Leu)
c.212G>T (p.Arg71Leu)
c.113G>T (p.Arg38Leu)
c.734G>T (p.Arg245Leu)
c.419G>T (p.Arg140Leu)
gnomAD v4
14g.24081522C=CA2123777940NRLc.428G= (p.Arg143=)
c.11G= (p.Arg4=)
c.527G= (p.Arg176=)
c.212G= (p.Arg71=)
c.113G= (p.Arg38=)
c.734G= (p.Arg245=)
c.419G= (p.Arg140=)
14g.24081522C>GCA389278781NRLc.428G>C (p.Arg143Pro)
c.11G>C (p.Arg4Pro)
c.527G>C (p.Arg176Pro)
c.212G>C (p.Arg71Pro)
c.113G>C (p.Arg38Pro)
c.734G>C (p.Arg245Pro)
c.419G>C (p.Arg140Pro)
gnomAD v4
14g.24081522C>TCA389278764NRLc.428G>A (p.Arg143Gln)
c.11G>A (p.Arg4Gln)
c.527G>A (p.Arg176Gln)
c.212G>A (p.Arg71Gln)
c.113G>A (p.Arg38Gln)
c.734G>A (p.Arg245Gln)
c.419G>A (p.Arg140Gln)
dbSNP gnomAD v2 gnomAD v4
14g.24081523G>ACA389278787NRLc.427C>T (p.Arg143Trp)
c.10C>T (p.Arg4Trp)
c.526C>T (p.Arg176Trp)
c.211C>T (p.Arg71Trp)
c.112C>T (p.Arg38Trp)
c.733C>T (p.Arg245Trp)
c.418C>T (p.Arg140Trp)
gnomAD v4
14g.24081523G>CCA389278793NRLc.427C>G (p.Arg143Gly)
c.10C>G (p.Arg4Gly)
c.526C>G (p.Arg176Gly)
c.211C>G (p.Arg71Gly)
c.112C>G (p.Arg38Gly)
c.733C>G (p.Arg245Gly)
c.418C>G (p.Arg140Gly)
14g.24081523G>TCA485776061NRLc.427C>A (p.Arg143=)
c.10C>A (p.Arg4=)
c.526C>A (p.Arg176=)
c.211C>A (p.Arg71=)
c.112C>A (p.Arg38=)
c.733C>A (p.Arg245=)
c.418C>A (p.Arg140=)
gnomAD v4
14g.24081524C>ACA485776062NRLc.426G>T (p.Val142=)
c.9G>T (p.Val3=)
c.525G>T (p.Val175=)
c.210G>T (p.Val70=)
c.111G>T (p.Val37=)
c.732G>T (p.Val244=)
c.417G>T (p.Val139=)
gnomAD v4
14g.24081524C>GCA485776063NRLc.426G>C (p.Val142=)
c.9G>C (p.Val3=)
c.525G>C (p.Val175=)
c.210G>C (p.Val70=)
c.111G>C (p.Val37=)
c.732G>C (p.Val244=)
c.417G>C (p.Val139=)
14g.24081524C>TCA485776064NRLc.426G>A (p.Val142=)
c.9G>A (p.Val3=)
c.525G>A (p.Val175=)
c.210G>A (p.Val70=)
c.111G>A (p.Val37=)
c.732G>A (p.Val244=)
c.417G>A (p.Val139=)
gnomAD v4
14g.24081525A=CA2123777948NRLc.425T= (p.Val142=)
c.8T= (p.Val3=)
c.524T= (p.Val175=)
c.209T= (p.Val70=)
c.110T= (p.Val37=)
c.731T= (p.Val244=)
c.416T= (p.Val139=)
14g.24081525A>CCA389278797NRLc.425T>G (p.Val142Gly)
c.8T>G (p.Val3Gly)
c.524T>G (p.Val175Gly)
c.209T>G (p.Val70Gly)
c.110T>G (p.Val37Gly)
c.731T>G (p.Val244Gly)
c.416T>G (p.Val139Gly)
14g.24081525A>GCA7122835NRLc.425T>C (p.Val142Ala)
c.8T>C (p.Val3Ala)
c.524T>C (p.Val175Ala)
c.209T>C (p.Val70Ala)
c.110T>C (p.Val37Ala)
c.731T>C (p.Val244Ala)
c.416T>C (p.Val139Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081525A>TCA389278798NRLc.425T>A (p.Val142Glu)
c.8T>A (p.Val3Glu)
c.524T>A (p.Val175Glu)
c.209T>A (p.Val70Glu)
c.110T>A (p.Val37Glu)
c.731T>A (p.Val244Glu)
c.416T>A (p.Val139Glu)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24081526C>ACA389278799NRLc.424G>T (p.Val142Leu)
c.7G>T (p.Val3Leu)
c.523G>T (p.Val175Leu)
c.208G>T (p.Val70Leu)
c.109G>T (p.Val37Leu)
c.730G>T (p.Val244Leu)
c.415G>T (p.Val139Leu)
gnomAD v4
14g.24081526C>GCA389278802NRLc.424G>C (p.Val142Leu)
c.7G>C (p.Val3Leu)
c.523G>C (p.Val175Leu)
c.208G>C (p.Val70Leu)
c.109G>C (p.Val37Leu)
c.730G>C (p.Val244Leu)
c.415G>C (p.Val139Leu)
14g.24081526C>TCA389278806NRLc.424G>A (p.Val142Met)
c.7G>A (p.Val3Met)
c.523G>A (p.Val175Met)
c.208G>A (p.Val70Met)
c.109G>A (p.Val37Met)
c.730G>A (p.Val244Met)
c.415G>A (p.Val139Met)
gnomAD v4
14g.24081527A=CA2123777954NRLc.423T= (p.Ser141=)
c.6T= (p.Ser2=)
c.522T= (p.Ser174=)
c.207T= (p.Ser69=)
c.108T= (p.Ser36=)
c.729T= (p.Ser243=)
c.414T= (p.Ser138=)
14g.24081527A>CCA485776065NRLc.423T>G (p.Ser141=)
c.6T>G (p.Ser2=)
c.522T>G (p.Ser174=)
c.207T>G (p.Ser69=)
c.108T>G (p.Ser36=)
c.729T>G (p.Ser243=)
c.414T>G (p.Ser138=)
14g.24081527A>GCA7122836NRLc.423T>C (p.Ser141=)
c.6T>C (p.Ser2=)
c.522T>C (p.Ser174=)
c.207T>C (p.Ser69=)
c.108T>C (p.Ser36=)
c.729T>C (p.Ser243=)
c.414T>C (p.Ser138=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081527A>TCA485776066NRLc.423T>A (p.Ser141=)
c.6T>A (p.Ser2=)
c.522T>A (p.Ser174=)
c.207T>A (p.Ser69=)
c.108T>A (p.Ser36=)
c.729T>A (p.Ser243=)
c.414T>A (p.Ser138=)
14g.24081528G>ACA389278829NRLc.422C>T (p.Ser141Phe)
c.5C>T (p.Ser2Phe)
c.521C>T (p.Ser174Phe)
c.206C>T (p.Ser69Phe)
c.107C>T (p.Ser36Phe)
c.728C>T (p.Ser243Phe)
c.413C>T (p.Ser138Phe)
gnomAD v4
14g.24081528G>CCA389278838NRLc.422C>G (p.Ser141Cys)
c.5C>G (p.Ser2Cys)
c.521C>G (p.Ser174Cys)
c.206C>G (p.Ser69Cys)
c.107C>G (p.Ser36Cys)
c.728C>G (p.Ser243Cys)
c.413C>G (p.Ser138Cys)
14g.24081528G>TCA389278841NRLc.422C>A (p.Ser141Tyr)
c.5C>A (p.Ser2Tyr)
c.521C>A (p.Ser174Tyr)
c.206C>A (p.Ser69Tyr)
c.107C>A (p.Ser36Tyr)
c.728C>A (p.Ser243Tyr)
c.413C>A (p.Ser138Tyr)
gnomAD v4
14g.24081529A=CA2123777957NRLc.421T= (p.Ser141=)
c.4T= (p.Ser2=)
c.520T= (p.Ser174=)
c.205T= (p.Ser69=)
c.106T= (p.Ser36=)
c.727T= (p.Ser243=)
c.412T= (p.Ser138=)
14g.24081529A>CCA389278864NRLc.421T>G (p.Ser141Ala)
c.4T>G (p.Ser2Ala)
c.520T>G (p.Ser174Ala)
c.205T>G (p.Ser69Ala)
c.106T>G (p.Ser36Ala)
c.727T>G (p.Ser243Ala)
c.412T>G (p.Ser138Ala)
dbSNP gnomAD v4
14g.24081529A>GCA389278861NRLc.421T>C (p.Ser141Pro)
c.4T>C (p.Ser2Pro)
c.520T>C (p.Ser174Pro)
c.205T>C (p.Ser69Pro)
c.106T>C (p.Ser36Pro)
c.727T>C (p.Ser243Pro)
c.412T>C (p.Ser138Pro)
dbSNP gnomAD v2 gnomAD v4
14g.24081529A>TCA389278846NRLc.421T>A (p.Ser141Thr)
c.4T>A (p.Ser2Thr)
c.520T>A (p.Ser174Thr)
c.205T>A (p.Ser69Thr)
c.106T>A (p.Ser36Thr)
c.727T>A (p.Ser243Thr)
c.412T>A (p.Ser138Thr)
gnomAD v4
14g.24081530C>ACA389278865NRLc.420G>T (p.Met140Ile)
c.3G>T (p.Met1Ile)
c.519G>T (p.Met173Ile)
c.204G>T (p.Met68Ile)
c.105G>T (p.Met35Ile)
c.726G>T (p.Met242Ile)
c.411G>T (p.Met137Ile)
gnomAD v4
14g.24081530C>GCA389278866NRLc.420G>C (p.Met140Ile)
c.3G>C (p.Met1Ile)
c.519G>C (p.Met173Ile)
c.204G>C (p.Met68Ile)
c.105G>C (p.Met35Ile)
c.726G>C (p.Met242Ile)
c.411G>C (p.Met137Ile)
14g.24081530C>TCA389278867NRLc.420G>A (p.Met140Ile)
c.3G>A (p.Met1Ile)
c.519G>A (p.Met173Ile)
c.204G>A (p.Met68Ile)
c.105G>A (p.Met35Ile)
c.726G>A (p.Met242Ile)
c.411G>A (p.Met137Ile)
ClinVar dbSNP gnomAD v4
14g.24081531A=CA2123777959NRLc.419T= (p.Met140=)
c.2T= (p.Met1=)
c.518T= (p.Met173=)
c.203T= (p.Met68=)
c.104T= (p.Met35=)
c.725T= (p.Met242=)
c.410T= (p.Met137=)
14g.24081531A>CCA389278868NRLc.419T>G (p.Met140Arg)
c.2T>G (p.Met1Arg)
c.518T>G (p.Met173Arg)
c.203T>G (p.Met68Arg)
c.104T>G (p.Met35Arg)
c.725T>G (p.Met242Arg)
c.410T>G (p.Met137Arg)
14g.24081531A>GCA257868153NRLc.419T>C (p.Met140Thr)
c.2T>C (p.Met1Thr)
c.518T>C (p.Met173Thr)
c.203T>C (p.Met68Thr)
c.104T>C (p.Met35Thr)
c.725T>C (p.Met242Thr)
c.410T>C (p.Met137Thr)
dbSNP
14g.24081531A>TCA389278871NRLc.419T>A (p.Met140Lys)
c.2T>A (p.Met1Lys)
c.518T>A (p.Met173Lys)
c.203T>A (p.Met68Lys)
c.104T>A (p.Met35Lys)
c.725T>A (p.Met242Lys)
c.410T>A (p.Met137Lys)
14g.24081532T>ACA389278874NRLc.418A>T (p.Met140Leu)
c.1A>T (p.Met1Leu)
c.517A>T (p.Met173Leu)
c.202A>T (p.Met68Leu)
c.103A>T (p.Met35Leu)
c.724A>T (p.Met242Leu)
c.409A>T (p.Met137Leu)
dbSNP gnomAD v2 gnomAD v4
14g.24081532T>CCA389278878NRLc.418A>G (p.Met140Val)
c.1A>G (p.Met1Val)
c.517A>G (p.Met173Val)
c.202A>G (p.Met68Val)
c.103A>G (p.Met35Val)
c.724A>G (p.Met242Val)
c.409A>G (p.Met137Val)
gnomAD v4
14g.24081532T>GCA389278881NRLc.418A>C (p.Met140Leu)
c.1A>C (p.Met1Leu)
c.517A>C (p.Met173Leu)
c.202A>C (p.Met68Leu)
c.103A>C (p.Met35Leu)
c.724A>C (p.Met242Leu)
c.409A>C (p.Met137Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081532T=CA2123777962NRLc.418A= (p.Met140=)
c.1A= (p.Met1=)
c.517A= (p.Met173=)
c.202A= (p.Met68=)
c.103A= (p.Met35=)
c.724A= (p.Met242=)
c.409A= (p.Met137=)
14g.24081533C>ACA485776067NRLc.417G>T (p.Ser139=)
c.-1G>T (n.-1G>T)
c.516G>T (p.Ser172=)
c.201G>T (p.Ser67=)
c.102G>T (p.Ser34=)
c.723G>T (p.Ser241=)
c.408G>T (p.Ser136=)
gnomAD v4
14g.24081533C=CA2123777965NRLc.417G= (p.Ser139=)
c.-1G= (n.-1G=)
c.516G= (p.Ser172=)
c.201G= (p.Ser67=)
c.102G= (p.Ser34=)
c.723G= (p.Ser241=)
c.408G= (p.Ser136=)
14g.24081533C>GCA485776068NRLc.417G>C (p.Ser139=)
c.-1G>C (n.-1G>C)
c.516G>C (p.Ser172=)
c.201G>C (p.Ser67=)
c.102G>C (p.Ser34=)
c.723G>C (p.Ser241=)
c.408G>C (p.Ser136=)
dbSNP
14g.24081533C>TCA7122837NRLc.417G>A (p.Ser139=)
c.-1G>A (n.-1G>A)
c.516G>A (p.Ser172=)
c.201G>A (p.Ser67=)
c.102G>A (p.Ser34=)
c.723G>A (p.Ser241=)
c.408G>A (p.Ser136=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081533dupCA2575490425NRLc.417dup (p.Met140AspfsTer?)
c.-1dup (p.Met1AspfsTer?)
c.516dup (p.Met173AspfsTer?)
c.201dup (p.Met68AspfsTer?)
c.102dup (p.Met35AspfsTer?)
c.723dup (p.Met242AspfsTer?)
c.408dup (p.Met137AspfsTer?)
14g.24081534G>ACA389278886NRLc.416C>T (p.Ser139Leu)
c.-2C>T (n.-2C>T)
c.515C>T (p.Ser172Leu)
c.200C>T (p.Ser67Leu)
c.101C>T (p.Ser34Leu)
c.722C>T (p.Ser241Leu)
c.407C>T (p.Ser136Leu)
gnomAD v4
14g.24081534G>CCA389278888NRLc.416C>G (p.Ser139Trp)
c.-2C>G (n.-2C>G)
c.515C>G (p.Ser172Trp)
c.200C>G (p.Ser67Trp)
c.101C>G (p.Ser34Trp)
c.722C>G (p.Ser241Trp)
c.407C>G (p.Ser136Trp)
ClinVar dbSNP gnomAD v4
14g.24081534G>TCA389278889NRLc.416C>A (p.Ser139Ter)
c.-2C>A (n.-2C>A)
c.515C>A (p.Ser172Ter)
c.200C>A (p.Ser67Ter)
c.101C>A (p.Ser34Ter)
c.722C>A (p.Ser241Ter)
c.407C>A (p.Ser136Ter)
gnomAD v4
14g.24081535A>CCA389278891NRLc.415T>G (p.Ser139Ala)
c.-3T>G (n.-3T>G)
c.514T>G (p.Ser172Ala)
c.199T>G (p.Ser67Ala)
c.100T>G (p.Ser34Ala)
c.721T>G (p.Ser241Ala)
c.406T>G (p.Ser136Ala)
14g.24081535A>GCA389278893NRLc.415T>C (p.Ser139Pro)
c.-3T>C (n.-3T>C)
c.514T>C (p.Ser172Pro)
c.199T>C (p.Ser67Pro)
c.100T>C (p.Ser34Pro)
c.721T>C (p.Ser241Pro)
c.406T>C (p.Ser136Pro)
14g.24081535A>TCA389278890NRLc.415T>A (p.Ser139Thr)
c.-3T>A (n.-3T>A)
c.514T>A (p.Ser172Thr)
c.199T>A (p.Ser67Thr)
c.100T>A (p.Ser34Thr)
c.721T>A (p.Ser241Thr)
c.406T>A (p.Ser136Thr)
14g.24081536G>ACA485776069NRLc.414C>T (p.Val138=)
c.-4C>T (n.-4C>T)
c.513C>T (p.Val171=)
c.198C>T (p.Val66=)
c.99C>T (p.Val33=)
c.720C>T (p.Val240=)
c.405C>T (p.Val135=)
14g.24081536G>CCA485776070NRLc.414C>G (p.Val138=)
c.-4C>G (n.-4C>G)
c.513C>G (p.Val171=)
c.198C>G (p.Val66=)
c.99C>G (p.Val33=)
c.720C>G (p.Val240=)
c.405C>G (p.Val135=)
14g.24081536G>TCA485776071NRLc.414C>A (p.Val138=)
c.-4C>A (n.-4C>A)
c.513C>A (p.Val171=)
c.198C>A (p.Val66=)
c.99C>A (p.Val33=)
c.720C>A (p.Val240=)
c.405C>A (p.Val135=)
gnomAD v4
14g.24081537A=CA2123777968NRLc.413T= (p.Val138=)
c.-5T= (n.-5T=)
c.512T= (p.Val171=)
c.197T= (p.Val66=)
c.98T= (p.Val33=)
c.719T= (p.Val240=)
c.404T= (p.Val135=)
14g.24081537A>CCA389278901NRLc.413T>G (p.Val138Gly)
c.-5T>G (n.-5T>G)
c.512T>G (p.Val171Gly)
c.197T>G (p.Val66Gly)
c.98T>G (p.Val33Gly)
c.719T>G (p.Val240Gly)
c.404T>G (p.Val135Gly)
14g.24081537A>GCA389278896NRLc.413T>C (p.Val138Ala)
c.-5T>C (n.-5T>C)
c.512T>C (p.Val171Ala)
c.197T>C (p.Val66Ala)
c.98T>C (p.Val33Ala)
c.719T>C (p.Val240Ala)
c.404T>C (p.Val135Ala)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081537A>TCA389278904NRLc.413T>A (p.Val138Asp)
c.-5T>A (n.-5T>A)
c.512T>A (p.Val171Asp)
c.197T>A (p.Val66Asp)
c.98T>A (p.Val33Asp)
c.719T>A (p.Val240Asp)
c.404T>A (p.Val135Asp)
gnomAD v4
14g.24081538C>ACA389278913NRLc.412G>T (p.Val138Phe)
c.-6G>T (n.-6G>T)
c.511G>T (p.Val171Phe)
c.196G>T (p.Val66Phe)
c.97G>T (p.Val33Phe)
c.718G>T (p.Val240Phe)
c.403G>T (p.Val135Phe)
gnomAD v4
14g.24081538C=CA2123777972NRLc.412G= (p.Val138=)
c.-6G= (n.-6G=)
c.511G= (p.Val171=)
c.196G= (p.Val66=)
c.97G= (p.Val33=)
c.718G= (p.Val240=)
c.403G= (p.Val135=)
14g.24081538C>GCA389278923NRLc.412G>C (p.Val138Leu)
c.-6G>C (n.-6G>C)
c.511G>C (p.Val171Leu)
c.196G>C (p.Val66Leu)
c.97G>C (p.Val33Leu)
c.718G>C (p.Val240Leu)
c.403G>C (p.Val135Leu)
ClinVar dbSNP gnomAD v4
14g.24081538C>TCA389278916NRLc.412G>A (p.Val138Ile)
c.-6G>A (n.-6G>A)
c.511G>A (p.Val171Ile)
c.196G>A (p.Val66Ile)
c.97G>A (p.Val33Ile)
c.718G>A (p.Val240Ile)
c.403G>A (p.Val135Ile)
gnomAD v4
14g.24081539C>ACA485776073NRLc.411G>T (p.Leu137=)
c.-7G>T (n.-7G>T)
c.510G>T (p.Leu170=)
c.195G>T (p.Leu65=)
c.96G>T (p.Leu32=)
c.717G>T (p.Leu239=)
c.402G>T (p.Leu134=)
gnomAD v4
14g.24081539C>GCA485776075NRLc.411G>C (p.Leu137=)
c.-7G>C (n.-7G>C)
c.510G>C (p.Leu170=)
c.195G>C (p.Leu65=)
c.96G>C (p.Leu32=)
c.717G>C (p.Leu239=)
c.402G>C (p.Leu134=)
14g.24081539C>TCA485776072NRLc.411G>A (p.Leu137=)
c.-7G>A (n.-7G>A)
c.510G>A (p.Leu170=)
c.195G>A (p.Leu65=)
c.96G>A (p.Leu32=)
c.717G>A (p.Leu239=)
c.402G>A (p.Leu134=)
gnomAD v4
14g.24081540A>CCA389278933NRLc.410T>G (p.Leu137Arg)
c.-8T>G (n.-8T>G)
c.509T>G (p.Leu170Arg)
c.194T>G (p.Leu65Arg)
c.95T>G (p.Leu32Arg)
c.716T>G (p.Leu239Arg)
c.401T>G (p.Leu134Arg)
14g.24081540A>GCA389278941NRLc.410T>C (p.Leu137Pro)
c.-8T>C (n.-8T>C)
c.509T>C (p.Leu170Pro)
c.194T>C (p.Leu65Pro)
c.95T>C (p.Leu32Pro)
c.716T>C (p.Leu239Pro)
c.401T>C (p.Leu134Pro)
gnomAD v4
14g.24081540A>TCA389278935NRLc.410T>A (p.Leu137Gln)
c.-8T>A (n.-8T>A)
c.509T>A (p.Leu170Gln)
c.194T>A (p.Leu65Gln)
c.95T>A (p.Leu32Gln)
c.716T>A (p.Leu239Gln)
c.401T>A (p.Leu134Gln)
gnomAD v4
14g.24081541G>ACA485776078NRLc.409C>T (p.Leu137=)
c.-9C>T (n.-9C>T)
c.508C>T (p.Leu170=)
c.193C>T (p.Leu65=)
c.94C>T (p.Leu32=)
c.715C>T (p.Leu239=)
c.400C>T (p.Leu134=)
14g.24081541G>CCA389278944NRLc.409C>G (p.Leu137Val)
c.-9C>G (n.-9C>G)
c.508C>G (p.Leu170Val)
c.193C>G (p.Leu65Val)
c.94C>G (p.Leu32Val)
c.715C>G (p.Leu239Val)
c.400C>G (p.Leu134Val)
14g.24081541G>TCA389278952NRLc.409C>A (p.Leu137Met)
c.-9C>A (n.-9C>A)
c.508C>A (p.Leu170Met)
c.193C>A (p.Leu65Met)
c.94C>A (p.Leu32Met)
c.715C>A (p.Leu239Met)
c.400C>A (p.Leu134Met)
14g.24081542C>ACA7122838NRLc.408G>T (p.Ala136=)
c.-10G>T (n.-10G>T)
c.507G>T (p.Ala169=)
c.192G>T (p.Ala64=)
c.93G>T (p.Ala31=)
c.714G>T (p.Ala238=)
c.399G>T (p.Ala133=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081542C=CA2123777977NRLc.408G= (p.Ala136=)
c.-10G= (n.-10G=)
c.507G= (p.Ala169=)
c.192G= (p.Ala64=)
c.93G= (p.Ala31=)
c.714G= (p.Ala238=)
c.399G= (p.Ala133=)
14g.24081542C>GCA485776079NRLc.408G>C (p.Ala136=)
c.-10G>C (n.-10G>C)
c.507G>C (p.Ala169=)
c.192G>C (p.Ala64=)
c.93G>C (p.Ala31=)
c.714G>C (p.Ala238=)
c.399G>C (p.Ala133=)
14g.24081542C>TCA485776081NRLc.408G>A (p.Ala136=)
c.-10G>A (n.-10G>A)
c.507G>A (p.Ala169=)
c.192G>A (p.Ala64=)
c.93G>A (p.Ala31=)
c.714G>A (p.Ala238=)
c.399G>A (p.Ala133=)
gnomAD v4
14g.24081543G>ACA7122839NRLc.407C>T (p.Ala136Val)
c.-11C>T (n.-11C>T)
c.506C>T (p.Ala169Val)
c.191C>T (p.Ala64Val)
c.92C>T (p.Ala31Val)
c.713C>T (p.Ala238Val)
c.398C>T (p.Ala133Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081543G>CCA389278961NRLc.407C>G (p.Ala136Gly)
c.-11C>G (n.-11C>G)
c.506C>G (p.Ala169Gly)
c.191C>G (p.Ala64Gly)
c.92C>G (p.Ala31Gly)
c.713C>G (p.Ala238Gly)
c.398C>G (p.Ala133Gly)
14g.24081543G=CA2123777986NRLc.407C= (p.Ala136=)
c.-11C= (n.-11C=)
c.506C= (p.Ala169=)
c.191C= (p.Ala64=)
c.92C= (p.Ala31=)
c.713C= (p.Ala238=)
c.398C= (p.Ala133=)
14g.24081543G>TCA389278969NRLc.407C>A (p.Ala136Glu)
c.-11C>A (n.-11C>A)
c.506C>A (p.Ala169Glu)
c.191C>A (p.Ala64Glu)
c.92C>A (p.Ala31Glu)
c.713C>A (p.Ala238Glu)
c.398C>A (p.Ala133Glu)
gnomAD v4
14g.24081544C>ACA389278973NRLc.406G>T (p.Ala136Ser)
c.-12G>T (n.-12G>T)
c.505G>T (p.Ala169Ser)
c.190G>T (p.Ala64Ser)
c.91G>T (p.Ala31Ser)
c.712G>T (p.Ala238Ser)
c.397G>T (p.Ala133Ser)
14g.24081544C=CA2123777994NRLc.406G= (p.Ala136=)
c.-12G= (n.-12G=)
c.505G= (p.Ala169=)
c.190G= (p.Ala64=)
c.91G= (p.Ala31=)
c.712G= (p.Ala238=)
c.397G= (p.Ala133=)
14g.24081544C>GCA389278974NRLc.406G>C (p.Ala136Pro)
c.-12G>C (n.-12G>C)
c.505G>C (p.Ala169Pro)
c.190G>C (p.Ala64Pro)
c.91G>C (p.Ala31Pro)
c.712G>C (p.Ala238Pro)
c.397G>C (p.Ala133Pro)
dbSNP gnomAD v3 gnomAD v4
14g.24081544C>TCA389278975NRLc.406G>A (p.Ala136Thr)
c.-12G>A (n.-12G>A)
c.505G>A (p.Ala169Thr)
c.190G>A (p.Ala64Thr)
c.91G>A (p.Ala31Thr)
c.712G>A (p.Ala238Thr)
c.397G>A (p.Ala133Thr)
14g.24081545C>ACA485776084NRLc.405G>T (p.Ala135=)
c.-13G>T (n.-13G>T)
c.504G>T (p.Ala168=)
c.189G>T (p.Ala63=)
c.90G>T (p.Ala30=)
c.711G>T (p.Ala237=)
c.396G>T (p.Ala132=)
gnomAD v4
14g.24081545C>GCA485776085NRLc.405G>C (p.Ala135=)
c.-13G>C (n.-13G>C)
c.504G>C (p.Ala168=)
c.189G>C (p.Ala63=)
c.90G>C (p.Ala30=)
c.711G>C (p.Ala237=)
c.396G>C (p.Ala132=)
14g.24081545C>TCA485776086NRLc.405G>A (p.Ala135=)
c.-13G>A (n.-13G>A)
c.504G>A (p.Ala168=)
c.189G>A (p.Ala63=)
c.90G>A (p.Ala30=)
c.711G>A (p.Ala237=)
c.396G>A (p.Ala132=)
gnomAD v4
14g.24081546G>ACA7122840NRLc.404C>T (p.Ala135Val)
c.-14C>T (n.-14C>T)
c.503C>T (p.Ala168Val)
c.188C>T (p.Ala63Val)
c.89C>T (p.Ala30Val)
c.710C>T (p.Ala237Val)
c.395C>T (p.Ala132Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081546G>CCA389278977NRLc.404C>G (p.Ala135Gly)
c.-14C>G (n.-14C>G)
c.503C>G (p.Ala168Gly)
c.188C>G (p.Ala63Gly)
c.89C>G (p.Ala30Gly)
c.710C>G (p.Ala237Gly)
c.395C>G (p.Ala132Gly)
14g.24081546G=CA2123777998NRLc.404C= (p.Ala135=)
c.-14C= (n.-14C=)
c.503C= (p.Ala168=)
c.188C= (p.Ala63=)
c.89C= (p.Ala30=)
c.710C= (p.Ala237=)
c.395C= (p.Ala132=)
14g.24081546G>TCA389278978NRLc.404C>A (p.Ala135Glu)
c.-14C>A (n.-14C>A)
c.503C>A (p.Ala168Glu)
c.188C>A (p.Ala63Glu)
c.89C>A (p.Ala30Glu)
c.710C>A (p.Ala237Glu)
c.395C>A (p.Ala132Glu)
gnomAD v4
14g.24081547C>ACA389278992NRLc.403G>T (p.Ala135Ser)
c.-15G>T (n.-15G>T)
c.502G>T (p.Ala168Ser)
c.187G>T (p.Ala63Ser)
c.88G>T (p.Ala30Ser)
c.709G>T (p.Ala237Ser)
c.394G>T (p.Ala132Ser)
gnomAD v4
14g.24081547C>GCA389278983NRLc.403G>C (p.Ala135Pro)
c.-15G>C (n.-15G>C)
c.502G>C (p.Ala168Pro)
c.187G>C (p.Ala63Pro)
c.88G>C (p.Ala30Pro)
c.709G>C (p.Ala237Pro)
c.394G>C (p.Ala132Pro)
14g.24081547C>TCA389278990NRLc.403G>A (p.Ala135Thr)
c.-15G>A (n.-15G>A)
c.502G>A (p.Ala168Thr)
c.187G>A (p.Ala63Thr)
c.88G>A (p.Ala30Thr)
c.709G>A (p.Ala237Thr)
c.394G>A (p.Ala132Thr)
14g.24081548G>ACA7122841NRLc.402C>T (p.Asp134=)
c.-16C>T (n.-16C>T)
c.501C>T (p.Asp167=)
c.186C>T (p.Asp62=)
c.87C>T (p.Asp29=)
c.708C>T (p.Asp236=)
c.393C>T (p.Asp131=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081548G>CCA389278994NRLc.402C>G (p.Asp134Glu)
c.-16C>G (n.-16C>G)
c.501C>G (p.Asp167Glu)
c.186C>G (p.Asp62Glu)
c.87C>G (p.Asp29Glu)
c.708C>G (p.Asp236Glu)
c.393C>G (p.Asp131Glu)
14g.24081548G=CA2123778003NRLc.402C= (p.Asp134=)
c.-16C= (n.-16C=)
c.501C= (p.Asp167=)
c.186C= (p.Asp62=)
c.87C= (p.Asp29=)
c.708C= (p.Asp236=)
c.393C= (p.Asp131=)
14g.24081548G>TCA389278997NRLc.402C>A (p.Asp134Glu)
c.-16C>A (n.-16C>A)
c.501C>A (p.Asp167Glu)
c.186C>A (p.Asp62Glu)
c.87C>A (p.Asp29Glu)
c.708C>A (p.Asp236Glu)
c.393C>A (p.Asp131Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081549T>ACA389279002NRLc.401A>T (p.Asp134Val)
c.-17A>T (n.-17A>T)
c.500A>T (p.Asp167Val)
c.185A>T (p.Asp62Val)
c.86A>T (p.Asp29Val)
c.707A>T (p.Asp236Val)
c.392A>T (p.Asp131Val)
14g.24081549T>CCA389279006NRLc.401A>G (p.Asp134Gly)
c.-17A>G (n.-17A>G)
c.500A>G (p.Asp167Gly)
c.185A>G (p.Asp62Gly)
c.86A>G (p.Asp29Gly)
c.707A>G (p.Asp236Gly)
c.392A>G (p.Asp131Gly)
14g.24081549T>GCA389279007NRLc.401A>C (p.Asp134Ala)
c.-17A>C (n.-17A>C)
c.500A>C (p.Asp167Ala)
c.185A>C (p.Asp62Ala)
c.86A>C (p.Asp29Ala)
c.707A>C (p.Asp236Ala)
c.392A>C (p.Asp131Ala)
14g.24081550C>ACA389279013NRLc.400G>T (p.Asp134Tyr)
c.-18G>T (n.-18G>T)
c.499G>T (p.Asp167Tyr)
c.184G>T (p.Asp62Tyr)
c.85G>T (p.Asp29Tyr)
c.706G>T (p.Asp236Tyr)
c.391G>T (p.Asp131Tyr)
gnomAD v4
14g.24081550C=CA2123778005NRLc.400G= (p.Asp134=)
c.-18G= (n.-18G=)
c.499G= (p.Asp167=)
c.184G= (p.Asp62=)
c.85G= (p.Asp29=)
c.706G= (p.Asp236=)
c.391G= (p.Asp131=)
14g.24081550C>GCA389279017NRLc.400G>C (p.Asp134His)
c.-18G>C (n.-18G>C)
c.499G>C (p.Asp167His)
c.184G>C (p.Asp62His)
c.85G>C (p.Asp29His)
c.706G>C (p.Asp236His)
c.391G>C (p.Asp131His)
dbSNP gnomAD v3 gnomAD v4
14g.24081550C>TCA389279020NRLc.400G>A (p.Asp134Asn)
c.-18G>A (n.-18G>A)
c.499G>A (p.Asp167Asn)
c.184G>A (p.Asp62Asn)
c.85G>A (p.Asp29Asn)
c.706G>A (p.Asp236Asn)
c.391G>A (p.Asp131Asn)
gnomAD v4 COSMIC
14g.24081551G>ACA7122842NRLc.399C>T (p.Ser133=)
c.-19C>T (n.-19C>T)
c.498C>T (p.Ser166=)
c.183C>T (p.Ser61=)
c.84C>T (p.Ser28=)
c.705C>T (p.Ser235=)
c.390C>T (p.Ser130=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081551G>CCA485776091NRLc.399C>G (p.Ser133=)
c.-19C>G (n.-19C>G)
c.498C>G (p.Ser166=)
c.183C>G (p.Ser61=)
c.84C>G (p.Ser28=)
c.705C>G (p.Ser235=)
c.390C>G (p.Ser130=)
14g.24081551G=CA2123778008NRLc.399C= (p.Ser133=)
c.-19C= (n.-19C=)
c.498C= (p.Ser166=)
c.183C= (p.Ser61=)
c.84C= (p.Ser28=)
c.705C= (p.Ser235=)
c.390C= (p.Ser130=)
14g.24081551G>TCA485776093NRLc.399C>A (p.Ser133=)
c.-19C>A (n.-19C>A)
c.498C>A (p.Ser166=)
c.183C>A (p.Ser61=)
c.84C>A (p.Ser28=)
c.705C>A (p.Ser235=)
c.390C>A (p.Ser130=)
gnomAD v4
14g.24081552G>ACA389279032NRLc.398C>T (p.Ser133Phe)
c.-20C>T (n.-20C>T)
c.497C>T (p.Ser166Phe)
c.182C>T (p.Ser61Phe)
c.83C>T (p.Ser28Phe)
c.704C>T (p.Ser235Phe)
c.389C>T (p.Ser130Phe)
gnomAD v4
14g.24081552G>CCA389279030NRLc.398C>G (p.Ser133Cys)
c.-20C>G (n.-20C>G)
c.497C>G (p.Ser166Cys)
c.182C>G (p.Ser61Cys)
c.83C>G (p.Ser28Cys)
c.704C>G (p.Ser235Cys)
c.389C>G (p.Ser130Cys)
14g.24081552G>TCA389279029NRLc.398C>A (p.Ser133Tyr)
c.-20C>A (n.-20C>A)
c.497C>A (p.Ser166Tyr)
c.182C>A (p.Ser61Tyr)
c.83C>A (p.Ser28Tyr)
c.704C>A (p.Ser235Tyr)
c.389C>A (p.Ser130Tyr)
gnomAD v4
14g.24081553A>CCA389279034NRLc.397T>G (p.Ser133Ala)
c.-21T>G (n.-21T>G)
c.496T>G (p.Ser166Ala)
c.181T>G (p.Ser61Ala)
c.82T>G (p.Ser28Ala)
c.703T>G (p.Ser235Ala)
c.388T>G (p.Ser130Ala)
14g.24081553A>GCA389279035NRLc.397T>C (p.Ser133Pro)
c.-21T>C (n.-21T>C)
c.496T>C (p.Ser166Pro)
c.181T>C (p.Ser61Pro)
c.82T>C (p.Ser28Pro)
c.703T>C (p.Ser235Pro)
c.388T>C (p.Ser130Pro)
14g.24081553A>TCA389279038NRLc.397T>A (p.Ser133Thr)
c.-21T>A (n.-21T>A)
c.496T>A (p.Ser166Thr)
c.181T>A (p.Ser61Thr)
c.82T>A (p.Ser28Thr)
c.703T>A (p.Ser235Thr)
c.388T>A (p.Ser130Thr)
14g.24081556delCA2624299045NRLc.397del (p.Ser133ProfsTer13)
c.-21del (n.-21del)
c.496del (p.Ser166ProfsTer13)
c.181del (p.Ser61ProfsTer13)
c.82del (p.Ser28ProfsTer13)
c.703del (p.Ser235ProfsTer13)
c.388del (p.Ser130ProfsTer13)
gnomAD v4
14g.24081554A>CCA389279042NRLc.396T>G (p.Phe132Leu)
c.-22T>G (n.-22T>G)
c.495T>G (p.Phe165Leu)
c.180T>G (p.Phe60Leu)
c.81T>G (p.Phe27Leu)
c.702T>G (p.Phe234Leu)
c.387T>G (p.Phe129Leu)
14g.24081554A>GCA485776097NRLc.396T>C (p.Phe132=)
c.-22T>C (n.-22T>C)
c.495T>C (p.Phe165=)
c.180T>C (p.Phe60=)
c.81T>C (p.Phe27=)
c.702T>C (p.Phe234=)
c.387T>C (p.Phe129=)
14g.24081554A>TCA389279045NRLc.396T>A (p.Phe132Leu)
c.-22T>A (n.-22T>A)
c.495T>A (p.Phe165Leu)
c.180T>A (p.Phe60Leu)
c.81T>A (p.Phe27Leu)
c.702T>A (p.Phe234Leu)
c.387T>A (p.Phe129Leu)
14g.24081555A>CCA389279056NRLc.395T>G (p.Phe132Cys)
c.-23T>G (n.-23T>G)
c.494T>G (p.Phe165Cys)
c.179T>G (p.Phe60Cys)
c.80T>G (p.Phe27Cys)
c.701T>G (p.Phe234Cys)
c.386T>G (p.Phe129Cys)
14g.24081555A>GCA389279057NRLc.395T>C (p.Phe132Ser)
c.-23T>C (n.-23T>C)
c.494T>C (p.Phe165Ser)
c.179T>C (p.Phe60Ser)
c.80T>C (p.Phe27Ser)
c.701T>C (p.Phe234Ser)
c.386T>C (p.Phe129Ser)
dbSNP
14g.24081555A>TCA389279059NRLc.395T>A (p.Phe132Tyr)
c.-23T>A (n.-23T>A)
c.494T>A (p.Phe165Tyr)
c.179T>A (p.Phe60Tyr)
c.80T>A (p.Phe27Tyr)
c.701T>A (p.Phe234Tyr)
c.386T>A (p.Phe129Tyr)
14g.24081556A>CCA389279062NRLc.394T>G (p.Phe132Val)
c.-24T>G (n.-24T>G)
c.493T>G (p.Phe165Val)
c.178T>G (p.Phe60Val)
c.79T>G (p.Phe27Val)
c.700T>G (p.Phe234Val)
c.385T>G (p.Phe129Val)
14g.24081556A>GCA389279063NRLc.394T>C (p.Phe132Leu)
c.-24T>C (n.-24T>C)
c.493T>C (p.Phe165Leu)
c.178T>C (p.Phe60Leu)
c.79T>C (p.Phe27Leu)
c.700T>C (p.Phe234Leu)
c.385T>C (p.Phe129Leu)
14g.24081556A>TCA389279064NRLc.394T>A (p.Phe132Ile)
c.-24T>A (n.-24T>A)
c.493T>A (p.Phe165Ile)
c.178T>A (p.Phe60Ile)
c.79T>A (p.Phe27Ile)
c.700T>A (p.Phe234Ile)
c.385T>A (p.Phe129Ile)
14g.24081557C>ACA485776098NRLc.393G>T (p.Arg131=)
c.-25G>T (n.-25G>T)
c.492G>T (p.Arg164=)
c.177G>T (p.Arg59=)
c.78G>T (p.Arg26=)
c.699G>T (p.Arg233=)
c.384G>T (p.Arg128=)
14g.24081557C>GCA485776099NRLc.393G>C (p.Arg131=)
c.-25G>C (n.-25G>C)
c.492G>C (p.Arg164=)
c.177G>C (p.Arg59=)
c.78G>C (p.Arg26=)
c.699G>C (p.Arg233=)
c.384G>C (p.Arg128=)
gnomAD v4
14g.24081557C>TCA485776100NRLc.393G>A (p.Arg131=)
c.-25G>A (n.-25G>A)
c.492G>A (p.Arg164=)
c.177G>A (p.Arg59=)
c.78G>A (p.Arg26=)
c.699G>A (p.Arg233=)
c.384G>A (p.Arg128=)
gnomAD v4
14g.24081558C>ACA257868170NRLc.392G>T (p.Arg131Leu)
c.-26G>T (n.-26G>T)
c.491G>T (p.Arg164Leu)
c.176G>T (p.Arg59Leu)
c.77G>T (p.Arg26Leu)
c.698G>T (p.Arg233Leu)
c.383G>T (p.Arg128Leu)
dbSNP gnomAD v3 gnomAD v4
14g.24081558C=CA2123778015NRLc.392G= (p.Arg131=)
c.-26G= (n.-26G=)
c.491G= (p.Arg164=)
c.176G= (p.Arg59=)
c.77G= (p.Arg26=)
c.698G= (p.Arg233=)
c.383G= (p.Arg128=)
14g.24081558C>GCA389279088NRLc.392G>C (p.Arg131Pro)
c.-26G>C (n.-26G>C)
c.491G>C (p.Arg164Pro)
c.176G>C (p.Arg59Pro)
c.77G>C (p.Arg26Pro)
c.698G>C (p.Arg233Pro)
c.383G>C (p.Arg128Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24081558C>TCA389279090NRLc.392G>A (p.Arg131Gln)
c.-26G>A (n.-26G>A)
c.491G>A (p.Arg164Gln)
c.176G>A (p.Arg59Gln)
c.77G>A (p.Arg26Gln)
c.698G>A (p.Arg233Gln)
c.383G>A (p.Arg128Gln)
gnomAD v4
14g.24081558_24081559insACACA2800892057NRLc.391_392insTGT (p.Arg131delinsLeuTrp)
c.-27_-26insTGT (n.-27_-26insTGT)
c.490_491insTGT (p.Arg164delinsLeuTrp)
c.175_176insTGT (p.Arg59delinsLeuTrp)
c.76_77insTGT (p.Arg26delinsLeuTrp)
c.697_698insTGT (p.Arg233delinsLeuTrp)
c.382_383insTGT (p.Arg128delinsLeuTrp)
14g.24081559G>ACA389279102NRLc.391C>T (p.Arg131Trp)
c.-27C>T (n.-27C>T)
c.490C>T (p.Arg164Trp)
c.175C>T (p.Arg59Trp)
c.76C>T (p.Arg26Trp)
c.697C>T (p.Arg233Trp)
c.382C>T (p.Arg128Trp)
gnomAD v4
14g.24081559G>CCA389279110NRLc.391C>G (p.Arg131Gly)
c.-27C>G (n.-27C>G)
c.490C>G (p.Arg164Gly)
c.175C>G (p.Arg59Gly)
c.76C>G (p.Arg26Gly)
c.697C>G (p.Arg233Gly)
c.382C>G (p.Arg128Gly)
14g.24081559G>TCA485776102NRLc.391C>A (p.Arg131=)
c.-27C>A (n.-27C>A)
c.490C>A (p.Arg164=)
c.175C>A (p.Arg59=)
c.76C>A (p.Arg26=)
c.697C>A (p.Arg233=)
c.382C>A (p.Arg128=)
gnomAD v4
14g.24081560C>ACA389279112NRLc.390G>T (p.Glu130Asp)
c.-28G>T (n.-28G>T)
c.489G>T (p.Glu163Asp)
c.174G>T (p.Glu58Asp)
c.75G>T (p.Glu25Asp)
c.696G>T (p.Glu232Asp)
c.381G>T (p.Glu127Asp)
gnomAD v4
14g.24081560C>GCA389279115NRLc.390G>C (p.Glu130Asp)
c.-28G>C (n.-28G>C)
c.489G>C (p.Glu163Asp)
c.174G>C (p.Glu58Asp)
c.75G>C (p.Glu25Asp)
c.696G>C (p.Glu232Asp)
c.381G>C (p.Glu127Asp)
14g.24081560C>TCA485776103NRLc.390G>A (p.Glu130=)
c.-28G>A (n.-28G>A)
c.489G>A (p.Glu163=)
c.174G>A (p.Glu58=)
c.75G>A (p.Glu25=)
c.696G>A (p.Glu232=)
c.381G>A (p.Glu127=)
gnomAD v4
14g.24081561delCA2800892058NRLc.389del (p.Glu130GlyfsTer16)
c.-29del (n.-29del)
c.488del (p.Glu163GlyfsTer16)
c.173del (p.Glu58GlyfsTer16)
c.74del (p.Glu25GlyfsTer16)
c.695del (p.Glu232GlyfsTer16)
c.380del (p.Glu127GlyfsTer16)
14g.24081561T>ACA389279117NRLc.389A>T (p.Glu130Val)
c.-29A>T (n.-29A>T)
c.488A>T (p.Glu163Val)
c.173A>T (p.Glu58Val)
c.74A>T (p.Glu25Val)
c.695A>T (p.Glu232Val)
c.380A>T (p.Glu127Val)
gnomAD v4
14g.24081561T>CCA389279120NRLc.389A>G (p.Glu130Gly)
c.-29A>G (n.-29A>G)
c.488A>G (p.Glu163Gly)
c.173A>G (p.Glu58Gly)
c.74A>G (p.Glu25Gly)
c.695A>G (p.Glu232Gly)
c.380A>G (p.Glu127Gly)
gnomAD v4
14g.24081561T>GCA389279124NRLc.389A>C (p.Glu130Ala)
c.-29A>C (n.-29A>C)
c.488A>C (p.Glu163Ala)
c.173A>C (p.Glu58Ala)
c.74A>C (p.Glu25Ala)
c.695A>C (p.Glu232Ala)
c.380A>C (p.Glu127Ala)
14g.24081562C>ACA389279126NRLc.388G>T (p.Glu130Ter)
c.-30G>T (n.-30G>T)
c.487G>T (p.Glu163Ter)
c.172G>T (p.Glu58Ter)
c.73G>T (p.Glu25Ter)
c.694G>T (p.Glu232Ter)
c.379G>T (p.Glu127Ter)
gnomAD v4
14g.24081562C>GCA389279128NRLc.388G>C (p.Glu130Gln)
c.-30G>C (n.-30G>C)
c.487G>C (p.Glu163Gln)
c.172G>C (p.Glu58Gln)
c.73G>C (p.Glu25Gln)
c.694G>C (p.Glu232Gln)
c.379G>C (p.Glu127Gln)
gnomAD v4
14g.24081562C>TCA389279131NRLc.388G>A (p.Glu130Lys)
c.-30G>A (n.-30G>A)
c.487G>A (p.Glu163Lys)
c.172G>A (p.Glu58Lys)
c.73G>A (p.Glu25Lys)
c.694G>A (p.Glu232Lys)
c.379G>A (p.Glu127Lys)
gnomAD v4
14g.24081562_24081563insAGCA2800892059NRLc.387_388insCT (p.Glu130LeufsTer17)
c.-31_-30insCT (n.-31_-30insCT)
c.486_487insCT (p.Glu163LeufsTer17)
c.171_172insCT (p.Glu58LeufsTer17)
c.72_73insCT (p.Glu25LeufsTer17)
c.693_694insCT (p.Glu232LeufsTer17)
c.378_379insCT (p.Glu127LeufsTer17)
14g.24081563T>ACA485657821NRLc.387A>T (p.Ala129=)
c.-31A>T (n.-31A>T)
c.486A>T (p.Ala162=)
c.171A>T (p.Ala57=)
c.72A>T (p.Ala24=)
c.693A>T (p.Ala231=)
c.378A>T (p.Ala126=)
14g.24081563T>CCA485657822NRLc.387A>G (p.Ala129=)
c.-31A>G (n.-31A>G)
c.486A>G (p.Ala162=)
c.171A>G (p.Ala57=)
c.72A>G (p.Ala24=)
c.693A>G (p.Ala231=)
c.378A>G (p.Ala126=)
14g.24081563T>GCA485657823NRLc.387A>C (p.Ala129=)
c.-31A>C (n.-31A>C)
c.486A>C (p.Ala162=)
c.171A>C (p.Ala57=)
c.72A>C (p.Ala24=)
c.693A>C (p.Ala231=)
c.378A>C (p.Ala126=)
14g.24081564delCA2624299101NRLc.386del (p.Ala129GlufsTer17)
c.-32del (n.-32del)
c.485del (p.Ala162GlufsTer17)
c.170del (p.Ala57GlufsTer17)
c.71del (p.Ala24GlufsTer17)
c.692del (p.Ala231GlufsTer17)
c.377del (p.Ala126GlufsTer17)
gnomAD v4
14g.24081564G>ACA389279133NRLc.386C>T (p.Ala129Val)
c.-32C>T (n.-32C>T)
c.485C>T (p.Ala162Val)
c.170C>T (p.Ala57Val)
c.71C>T (p.Ala24Val)
c.692C>T (p.Ala231Val)
c.377C>T (p.Ala126Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081564G>CCA389279135NRLc.386C>G (p.Ala129Gly)
c.-32C>G (n.-32C>G)
c.485C>G (p.Ala162Gly)
c.170C>G (p.Ala57Gly)
c.71C>G (p.Ala24Gly)
c.692C>G (p.Ala231Gly)
c.377C>G (p.Ala126Gly)
14g.24081564G=CA2123778021NRLc.386C= (p.Ala129=)
c.-32C= (n.-32C=)
c.485C= (p.Ala162=)
c.170C= (p.Ala57=)
c.71C= (p.Ala24=)
c.692C= (p.Ala231=)
c.377C= (p.Ala126=)
14g.24081564G>TCA389279140NRLc.386C>A (p.Ala129Glu)
c.-32C>A (n.-32C>A)
c.485C>A (p.Ala162Glu)
c.170C>A (p.Ala57Glu)
c.71C>A (p.Ala24Glu)
c.692C>A (p.Ala231Glu)
c.377C>A (p.Ala126Glu)
gnomAD v4
14g.24081565C>ACA389279149NRLc.385G>T (p.Ala129Ser)
c.-33G>T (n.-33G>T)
c.484G>T (p.Ala162Ser)
c.169G>T (p.Ala57Ser)
c.70G>T (p.Ala24Ser)
c.691G>T (p.Ala231Ser)
c.376G>T (p.Ala126Ser)
gnomAD v4
14g.24081565C>GCA389279146NRLc.385G>C (p.Ala129Pro)
c.-33G>C (n.-33G>C)
c.484G>C (p.Ala162Pro)
c.169G>C (p.Ala57Pro)
c.70G>C (p.Ala24Pro)
c.691G>C (p.Ala231Pro)
c.376G>C (p.Ala126Pro)
14g.24081565C>TCA389279143NRLc.385G>A (p.Ala129Thr)
c.-33G>A (n.-33G>A)
c.484G>A (p.Ala162Thr)
c.169G>A (p.Ala57Thr)
c.70G>A (p.Ala24Thr)
c.691G>A (p.Ala231Thr)
c.376G>A (p.Ala126Thr)
gnomAD v4
14g.24081565_24081566delCA2800892060NRLc.384_385del (p.Ala129ArgfsTer?)
c.-34_-33del (n.-34_-33del)
c.483_484del (p.Ala162ArgfsTer?)
c.168_169del (p.Ala57ArgfsTer?)
c.69_70del (p.Ala24ArgfsTer?)
c.690_691del (p.Ala231ArgfsTer?)
c.375_376del (p.Ala126ArgfsTer?)
14g.24081566C>ACA485657824NRLc.384G>T (p.Leu128=)
c.-34G>T (n.-34G>T)
c.483G>T (p.Leu161=)
c.168G>T (p.Leu56=)
c.69G>T (p.Leu23=)
c.690G>T (p.Leu230=)
c.375G>T (p.Leu125=)
gnomAD v4
14g.24081566C>GCA485657825NRLc.384G>C (p.Leu128=)
c.-34G>C (n.-34G>C)
c.483G>C (p.Leu161=)
c.168G>C (p.Leu56=)
c.69G>C (p.Leu23=)
c.690G>C (p.Leu230=)
c.375G>C (p.Leu125=)
14g.24081566C>TCA485657826NRLc.384G>A (p.Leu128=)
c.-34G>A (n.-34G>A)
c.483G>A (p.Leu161=)
c.168G>A (p.Leu56=)
c.69G>A (p.Leu23=)
c.690G>A (p.Leu230=)
c.375G>A (p.Leu125=)
gnomAD v4
14g.24081567A=CA2123778025NRLc.383T= (p.Leu128=)
c.-35T= (n.-35T=)
c.482T= (p.Leu161=)
c.167T= (p.Leu56=)
c.68T= (p.Leu23=)
c.689T= (p.Leu230=)
c.374T= (p.Leu125=)
14g.24081567A>CCA389279153NRLc.383T>G (p.Leu128Arg)
c.-35T>G (n.-35T>G)
c.482T>G (p.Leu161Arg)
c.167T>G (p.Leu56Arg)
c.68T>G (p.Leu23Arg)
c.689T>G (p.Leu230Arg)
c.374T>G (p.Leu125Arg)
dbSNP gnomAD v4
14g.24081567A>GCA7122843NRLc.383T>C (p.Leu128Pro)
c.-35T>C (n.-35T>C)
c.482T>C (p.Leu161Pro)
c.167T>C (p.Leu56Pro)
c.68T>C (p.Leu23Pro)
c.689T>C (p.Leu230Pro)
c.374T>C (p.Leu125Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081567A>TCA389279158NRLc.383T>A (p.Leu128Gln)
c.-35T>A (n.-35T>A)
c.482T>A (p.Leu161Gln)
c.167T>A (p.Leu56Gln)
c.68T>A (p.Leu23Gln)
c.689T>A (p.Leu230Gln)
c.374T>A (p.Leu125Gln)
gnomAD v4
14g.24081568G>ACA485657827NRLc.382C>T (p.Leu128=)
c.-36C>T (n.-36C>T)
c.481C>T (p.Leu161=)
c.166C>T (p.Leu56=)
c.67C>T (p.Leu23=)
c.688C>T (p.Leu230=)
c.373C>T (p.Leu125=)
gnomAD v4
14g.24081568G>CCA389279161NRLc.382C>G (p.Leu128Val)
c.-36C>G (n.-36C>G)
c.481C>G (p.Leu161Val)
c.166C>G (p.Leu56Val)
c.67C>G (p.Leu23Val)
c.688C>G (p.Leu230Val)
c.373C>G (p.Leu125Val)
14g.24081568G>TCA389279163NRLc.382C>A (p.Leu128Met)
c.-36C>A (n.-36C>A)
c.481C>A (p.Leu161Met)
c.166C>A (p.Leu56Met)
c.67C>A (p.Leu23Met)
c.688C>A (p.Leu230Met)
c.373C>A (p.Leu125Met)
gnomAD v4
14g.24081569C>ACA389279164NRLc.382-1G>T (n.382-1G>T)
c.-36-1G>T (n.-36-1G>T)
c.481-1G>T (n.481-1G>T)
c.166-1G>T (n.166-1G>T)
c.67-1G>T (n.67-1G>T)
c.688-1G>T (n.688-1G>T)
c.373-1G>T (n.373-1G>T)
gnomAD v4
14g.24081569C>GCA389279165NRLc.382-1G>C (n.382-1G>C)
c.-36-1G>C (n.-36-1G>C)
c.481-1G>C (n.481-1G>C)
c.166-1G>C (n.166-1G>C)
c.67-1G>C (n.67-1G>C)
c.688-1G>C (n.688-1G>C)
c.373-1G>C (n.373-1G>C)
14g.24081569C>TCA389279166NRLc.382-1G>A (n.382-1G>A)
c.-36-1G>A (n.-36-1G>A)
c.481-1G>A (n.481-1G>A)
c.166-1G>A (n.166-1G>A)
c.67-1G>A (n.67-1G>A)
c.688-1G>A (n.688-1G>A)
c.373-1G>A (n.373-1G>A)
gnomAD v4
14g.24081570T>ACA389279168NRLc.382-2A>T (n.382-2A>T)
c.-36-2A>T (n.-36-2A>T)
c.481-2A>T (n.481-2A>T)
c.166-2A>T (n.166-2A>T)
c.67-2A>T (n.67-2A>T)
c.688-2A>T (n.688-2A>T)
c.373-2A>T (n.373-2A>T)
14g.24081570T>CCA389279169NRLc.382-2A>G (n.382-2A>G)
c.-36-2A>G (n.-36-2A>G)
c.481-2A>G (n.481-2A>G)
c.166-2A>G (n.166-2A>G)
c.67-2A>G (n.67-2A>G)
c.688-2A>G (n.688-2A>G)
c.373-2A>G (n.373-2A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24081570T>GCA389279171NRLc.382-2A>C (n.382-2A>C)
c.-36-2A>C (n.-36-2A>C)
c.481-2A>C (n.481-2A>C)
c.166-2A>C (n.166-2A>C)
c.67-2A>C (n.67-2A>C)
c.688-2A>C (n.688-2A>C)
c.373-2A>C (n.373-2A>C)
dbSNP gnomAD v2 gnomAD v4
14g.24081570T=CA2123778028NRLc.382-2A= (n.382-2A=)
c.-36-2A= (n.-36-2A=)
c.481-2A= (n.481-2A=)
c.166-2A= (n.166-2A=)
c.67-2A= (n.67-2A=)
c.688-2A= (n.688-2A=)
c.373-2A= (n.373-2A=)
14g.24081571G>CCA2800892061NRLc.382-3C>G (n.382-3C>G)
c.-36-3C>G (n.-36-3C>G)
c.481-3C>G (n.481-3C>G)
c.166-3C>G (n.166-3C>G)
c.67-3C>G (n.67-3C>G)
c.688-3C>G (n.688-3C>G)
c.373-3C>G (n.373-3C>G)
14g.24081571G>TCA2624299134NRLc.382-3C>A (n.382-3C>A)
c.-36-3C>A (n.-36-3C>A)
c.481-3C>A (n.481-3C>A)
c.166-3C>A (n.166-3C>A)
c.67-3C>A (n.67-3C>A)
c.688-3C>A (n.688-3C>A)
c.373-3C>A (n.373-3C>A)
gnomAD v4
14g.24081572C>ACA2624299136NRLc.382-4G>T (n.382-4G>T)
c.-36-4G>T (n.-36-4G>T)
c.481-4G>T (n.481-4G>T)
c.166-4G>T (n.166-4G>T)
c.67-4G>T (n.67-4G>T)
c.688-4G>T (n.688-4G>T)
c.373-4G>T (n.373-4G>T)
gnomAD v4
14g.24081572C>TCA2624299139NRLc.382-4G>A (n.382-4G>A)
c.-36-4G>A (n.-36-4G>A)
c.481-4G>A (n.481-4G>A)
c.166-4G>A (n.166-4G>A)
c.67-4G>A (n.67-4G>A)
c.688-4G>A (n.688-4G>A)
c.373-4G>A (n.373-4G>A)
gnomAD v4
14g.24081573G>ACA612957035NRLc.382-5C>T (n.382-5C>T)
c.-36-5C>T (n.-36-5C>T)
c.481-5C>T (n.481-5C>T)
c.166-5C>T (n.166-5C>T)
c.67-5C>T (n.67-5C>T)
c.688-5C>T (n.688-5C>T)
c.373-5C>T (n.373-5C>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081573G>CCA2575490426NRLc.382-5C>G (n.382-5C>G)
c.-36-5C>G (n.-36-5C>G)
c.481-5C>G (n.481-5C>G)
c.166-5C>G (n.166-5C>G)
c.67-5C>G (n.67-5C>G)
c.688-5C>G (n.688-5C>G)
c.373-5C>G (n.373-5C>G)
gnomAD v4
14g.24081573G=CA2123778031NRLc.382-5C= (n.382-5C=)
c.-36-5C= (n.-36-5C=)
c.481-5C= (n.481-5C=)
c.166-5C= (n.166-5C=)
c.67-5C= (n.67-5C=)
c.688-5C= (n.688-5C=)
c.373-5C= (n.373-5C=)
14g.24081573G>TCA2624299142NRLc.382-5C>A (n.382-5C>A)
c.-36-5C>A (n.-36-5C>A)
c.481-5C>A (n.481-5C>A)
c.166-5C>A (n.166-5C>A)
c.67-5C>A (n.67-5C>A)
c.688-5C>A (n.688-5C>A)
c.373-5C>A (n.373-5C>A)
ClinVar gnomAD v4
14g.24081574G>ACA2624299146NRLc.382-6C>T (n.382-6C>T)
c.-36-6C>T (n.-36-6C>T)
c.481-6C>T (n.481-6C>T)
c.166-6C>T (n.166-6C>T)
c.67-6C>T (n.67-6C>T)
c.688-6C>T (n.688-6C>T)
c.373-6C>T (n.373-6C>T)
gnomAD v4
14g.24081574G>TCA2624299149NRLc.382-6C>A (n.382-6C>A)
c.-36-6C>A (n.-36-6C>A)
c.481-6C>A (n.481-6C>A)
c.166-6C>A (n.166-6C>A)
c.67-6C>A (n.67-6C>A)
c.688-6C>A (n.688-6C>A)
c.373-6C>A (n.373-6C>A)
gnomAD v4
14g.24081576G>ACA612957036NRLc.382-8C>T (n.382-8C>T)
c.-36-8C>T (n.-36-8C>T)
c.481-8C>T (n.481-8C>T)
c.166-8C>T (n.166-8C>T)
c.67-8C>T (n.67-8C>T)
c.688-8C>T (n.688-8C>T)
c.373-8C>T (n.373-8C>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081576G=CA2123778036NRLc.382-8C= (n.382-8C=)
c.-36-8C= (n.-36-8C=)
c.481-8C= (n.481-8C=)
c.166-8C= (n.166-8C=)
c.67-8C= (n.67-8C=)
c.688-8C= (n.688-8C=)
c.373-8C= (n.373-8C=)
14g.24081576G>TCA2624299154NRLc.382-8C>A (n.382-8C>A)
c.-36-8C>A (n.-36-8C>A)
c.481-8C>A (n.481-8C>A)
c.166-8C>A (n.166-8C>A)
c.67-8C>A (n.67-8C>A)
c.688-8C>A (n.688-8C>A)
c.373-8C>A (n.373-8C>A)
gnomAD v4
14g.24081578delCA2800892062NRLc.382-8del (n.382-8del)
c.-36-8del (n.-36-8del)
c.481-8del (n.481-8del)
c.166-8del (n.166-8del)
c.67-8del (n.67-8del)
c.688-8del (n.688-8del)
c.373-8del (n.373-8del)
14g.24081577G>ACA2624299157NRLc.382-9C>T (n.382-9C>T)
c.-36-9C>T (n.-36-9C>T)
c.481-9C>T (n.481-9C>T)
c.166-9C>T (n.166-9C>T)
c.67-9C>T (n.67-9C>T)
c.688-9C>T (n.688-9C>T)
c.373-9C>T (n.373-9C>T)
gnomAD v4
14g.24081577G>TCA2624299161NRLc.382-9C>A (n.382-9C>A)
c.-36-9C>A (n.-36-9C>A)
c.481-9C>A (n.481-9C>A)
c.166-9C>A (n.166-9C>A)
c.67-9C>A (n.67-9C>A)
c.688-9C>A (n.688-9C>A)
c.373-9C>A (n.373-9C>A)
gnomAD v4
14g.24081578G>ACA7122844NRLc.382-10C>T (n.382-10C>T)
c.-36-10C>T (n.-36-10C>T)
c.481-10C>T (n.481-10C>T)
c.166-10C>T (n.166-10C>T)
c.67-10C>T (n.67-10C>T)
c.688-10C>T (n.688-10C>T)
c.373-10C>T (n.373-10C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081578G>CCA257868178NRLc.382-10C>G (n.382-10C>G)
c.-36-10C>G (n.-36-10C>G)
c.481-10C>G (n.481-10C>G)
c.166-10C>G (n.166-10C>G)
c.67-10C>G (n.67-10C>G)
c.688-10C>G (n.688-10C>G)
c.373-10C>G (n.373-10C>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081578G=CA2123778039NRLc.382-10C= (n.382-10C=)
c.-36-10C= (n.-36-10C=)
c.481-10C= (n.481-10C=)
c.166-10C= (n.166-10C=)
c.67-10C= (n.67-10C=)
c.688-10C= (n.688-10C=)
c.373-10C= (n.373-10C=)
14g.24081578G>TCA2624299174NRLc.382-10C>A (n.382-10C>A)
c.-36-10C>A (n.-36-10C>A)
c.481-10C>A (n.481-10C>A)
c.166-10C>A (n.166-10C>A)
c.67-10C>A (n.67-10C>A)
c.688-10C>A (n.688-10C>A)
c.373-10C>A (n.373-10C>A)
gnomAD v4
14g.24081580G>ACA961116123NRLc.382-12C>T (n.382-12C>T)
c.-36-12C>T (n.-36-12C>T)
c.481-12C>T (n.481-12C>T)
c.166-12C>T (n.166-12C>T)
c.67-12C>T (n.67-12C>T)
c.688-12C>T (n.688-12C>T)
c.373-12C>T (n.373-12C>T)
dbSNP gnomAD v4
14g.24081580G>CCA2624299182NRLc.382-12C>G (n.382-12C>G)
c.-36-12C>G (n.-36-12C>G)
c.481-12C>G (n.481-12C>G)
c.166-12C>G (n.166-12C>G)
c.67-12C>G (n.67-12C>G)
c.688-12C>G (n.688-12C>G)
c.373-12C>G (n.373-12C>G)
gnomAD v4
14g.24081580G=CA2123778042NRLc.382-12C= (n.382-12C=)
c.-36-12C= (n.-36-12C=)
c.481-12C= (n.481-12C=)
c.166-12C= (n.166-12C=)
c.67-12C= (n.67-12C=)
c.688-12C= (n.688-12C=)
c.373-12C= (n.373-12C=)
14g.24081580G>TCA2624299186NRLc.382-12C>A (n.382-12C>A)
c.-36-12C>A (n.-36-12C>A)
c.481-12C>A (n.481-12C>A)
c.166-12C>A (n.166-12C>A)
c.67-12C>A (n.67-12C>A)
c.688-12C>A (n.688-12C>A)
c.373-12C>A (n.373-12C>A)
gnomAD v4
14g.24081582A=CA2123778045NRLc.382-14T= (n.382-14T=)
c.-36-14T= (n.-36-14T=)
c.481-14T= (n.481-14T=)
c.166-14T= (n.166-14T=)
c.67-14T= (n.67-14T=)
c.688-14T= (n.688-14T=)
c.373-14T= (n.373-14T=)
14g.24081582A>GCA2123778046NRLc.382-14T>C (n.382-14T>C)
c.-36-14T>C (n.-36-14T>C)
c.481-14T>C (n.481-14T>C)
c.166-14T>C (n.166-14T>C)
c.67-14T>C (n.67-14T>C)
c.688-14T>C (n.688-14T>C)
c.373-14T>C (n.373-14T>C)
dbSNP gnomAD v4
14g.24081582A>TCA612957037NRLc.382-14T>A (n.382-14T>A)
c.-36-14T>A (n.-36-14T>A)
c.481-14T>A (n.481-14T>A)
c.166-14T>A (n.166-14T>A)
c.67-14T>A (n.67-14T>A)
c.688-14T>A (n.688-14T>A)
c.373-14T>A (n.373-14T>A)
dbSNP gnomAD v2 gnomAD v4
14g.24081584G>ACA612957038NRLc.382-16C>T (n.382-16C>T)
c.-36-16C>T (n.-36-16C>T)
c.481-16C>T (n.481-16C>T)
c.166-16C>T (n.166-16C>T)
c.67-16C>T (n.67-16C>T)
c.688-16C>T (n.688-16C>T)
c.373-16C>T (n.373-16C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.24081584G=CA2123778049NRLc.382-16C= (n.382-16C=)
c.-36-16C= (n.-36-16C=)
c.481-16C= (n.481-16C=)
c.166-16C= (n.166-16C=)
c.67-16C= (n.67-16C=)
c.688-16C= (n.688-16C=)
c.373-16C= (n.373-16C=)
14g.24081584G>TCA2624299196NRLc.382-16C>A (n.382-16C>A)
c.-36-16C>A (n.-36-16C>A)
c.481-16C>A (n.481-16C>A)
c.166-16C>A (n.166-16C>A)
c.67-16C>A (n.67-16C>A)
c.688-16C>A (n.688-16C>A)
c.373-16C>A (n.373-16C>A)
gnomAD v4
14g.24081585C>ACA2575490427NRLc.382-17G>T (n.382-17G>T)
c.-36-17G>T (n.-36-17G>T)
c.481-17G>T (n.481-17G>T)
c.166-17G>T (n.166-17G>T)
c.67-17G>T (n.67-17G>T)
c.688-17G>T (n.688-17G>T)
c.373-17G>T (n.373-17G>T)
gnomAD v4
14g.24081585C=CA2123778050NRLc.382-17G= (n.382-17G=)
c.-36-17G= (n.-36-17G=)
c.481-17G= (n.481-17G=)
c.166-17G= (n.166-17G=)
c.67-17G= (n.67-17G=)
c.688-17G= (n.688-17G=)
c.373-17G= (n.373-17G=)
14g.24081585C>GCA7122845NRLc.382-17G>C (n.382-17G>C)
c.-36-17G>C (n.-36-17G>C)
c.481-17G>C (n.481-17G>C)
c.166-17G>C (n.166-17G>C)
c.67-17G>C (n.67-17G>C)
c.688-17G>C (n.688-17G>C)
c.373-17G>C (n.373-17G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081585C>TCA2624299205NRLc.382-17G>A (n.382-17G>A)
c.-36-17G>A (n.-36-17G>A)
c.481-17G>A (n.481-17G>A)
c.166-17G>A (n.166-17G>A)
c.67-17G>A (n.67-17G>A)
c.688-17G>A (n.688-17G>A)
c.373-17G>A (n.373-17G>A)
gnomAD v4
14g.24081586A>GCA2575490428NRLc.382-18T>C (n.382-18T>C)
c.-36-18T>C (n.-36-18T>C)
c.481-18T>C (n.481-18T>C)
c.166-18T>C (n.166-18T>C)
c.67-18T>C (n.67-18T>C)
c.688-18T>C (n.688-18T>C)
c.373-18T>C (n.373-18T>C)
gnomAD v4
14g.24081587G>ACA2624299211NRLc.382-19C>T (n.382-19C>T)
c.-36-19C>T (n.-36-19C>T)
c.481-19C>T (n.481-19C>T)
c.166-19C>T (n.166-19C>T)
c.67-19C>T (n.67-19C>T)
c.688-19C>T (n.688-19C>T)
c.373-19C>T (n.373-19C>T)
gnomAD v4
14g.24081587G>TCA2624299212NRLc.382-19C>A (n.382-19C>A)
c.-36-19C>A (n.-36-19C>A)
c.481-19C>A (n.481-19C>A)
c.166-19C>A (n.166-19C>A)
c.67-19C>A (n.67-19C>A)
c.688-19C>A (n.688-19C>A)
c.373-19C>A (n.373-19C>A)
gnomAD v4
14g.24081589A=CA2123778051NRLc.382-21T= (n.382-21T=)
c.-36-21T= (n.-36-21T=)
c.481-21T= (n.481-21T=)
c.166-21T= (n.166-21T=)
c.67-21T= (n.67-21T=)
c.688-21T= (n.688-21T=)
c.373-21T= (n.373-21T=)
14g.24081589A>CCA612957039NRLc.382-21T>G (n.382-21T>G)
c.-36-21T>G (n.-36-21T>G)
c.481-21T>G (n.481-21T>G)
c.166-21T>G (n.166-21T>G)
c.67-21T>G (n.67-21T>G)
c.688-21T>G (n.688-21T>G)
c.373-21T>G (n.373-21T>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081590A=CA2123778052NRLc.382-22T= (n.382-22T=)
c.-36-22T= (n.-36-22T=)
c.481-22T= (n.481-22T=)
c.166-22T= (n.166-22T=)
c.67-22T= (n.67-22T=)
c.688-22T= (n.688-22T=)
c.373-22T= (n.373-22T=)
14g.24081590A>GCA257868182NRLc.382-22T>C (n.382-22T>C)
c.-36-22T>C (n.-36-22T>C)
c.481-22T>C (n.481-22T>C)
c.166-22T>C (n.166-22T>C)
c.67-22T>C (n.67-22T>C)
c.688-22T>C (n.688-22T>C)
c.373-22T>C (n.373-22T>C)
dbSNP gnomAD v3 gnomAD v4
14g.24081591C>ACA7122846NRLc.382-23G>T (n.382-23G>T)
c.-36-23G>T (n.-36-23G>T)
c.481-23G>T (n.481-23G>T)
c.166-23G>T (n.166-23G>T)
c.67-23G>T (n.67-23G>T)
c.688-23G>T (n.688-23G>T)
c.373-23G>T (n.373-23G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081591C=CA2123778055NRLc.382-23G= (n.382-23G=)
c.-36-23G= (n.-36-23G=)
c.481-23G= (n.481-23G=)
c.166-23G= (n.166-23G=)
c.67-23G= (n.67-23G=)
c.688-23G= (n.688-23G=)
c.373-23G= (n.373-23G=)
14g.24081591C>TCA612957040NRLc.382-23G>A (n.382-23G>A)
c.-36-23G>A (n.-36-23G>A)
c.481-23G>A (n.481-23G>A)
c.166-23G>A (n.166-23G>A)
c.67-23G>A (n.67-23G>A)
c.688-23G>A (n.688-23G>A)
c.373-23G>A (n.373-23G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081593_24081603dupCA2624299222NRLc.382-33_382-23dup (n.382-33_382-23dup)
c.-36-33_-36-23dup (n.-36-33_-36-23dup)
c.481-33_481-23dup (n.481-33_481-23dup)
c.166-33_166-23dup (n.166-33_166-23dup)
c.67-33_67-23dup (n.67-33_67-23dup)
c.688-33_688-23dup (n.688-33_688-23dup)
c.373-33_373-23dup (n.373-33_373-23dup)
gnomAD v4
14g.24081592C>ACA2624299229NRLc.382-24G>T (n.382-24G>T)
c.-36-24G>T (n.-36-24G>T)
c.481-24G>T (n.481-24G>T)
c.166-24G>T (n.166-24G>T)
c.67-24G>T (n.67-24G>T)
c.688-24G>T (n.688-24G>T)
c.373-24G>T (n.373-24G>T)
gnomAD v4
14g.24081592C=CA2123778059NRLc.382-24G= (n.382-24G=)
c.-36-24G= (n.-36-24G=)
c.481-24G= (n.481-24G=)
c.166-24G= (n.166-24G=)
c.67-24G= (n.67-24G=)
c.688-24G= (n.688-24G=)
c.373-24G= (n.373-24G=)
14g.24081592C>GCA961116133NRLc.382-24G>C (n.382-24G>C)
c.-36-24G>C (n.-36-24G>C)
c.481-24G>C (n.481-24G>C)
c.166-24G>C (n.166-24G>C)
c.67-24G>C (n.67-24G>C)
c.688-24G>C (n.688-24G>C)
c.373-24G>C (n.373-24G>C)
dbSNP gnomAD v4
14g.24081592C>TCA257868183NRLc.382-24G>A (n.382-24G>A)
c.-36-24G>A (n.-36-24G>A)
c.481-24G>A (n.481-24G>A)
c.166-24G>A (n.166-24G>A)
c.67-24G>A (n.67-24G>A)
c.688-24G>A (n.688-24G>A)
c.373-24G>A (n.373-24G>A)
dbSNP gnomAD v2 gnomAD v4
14g.24081593G>ACA257868184NRLc.382-25C>T (n.382-25C>T)
c.-36-25C>T (n.-36-25C>T)
c.481-25C>T (n.481-25C>T)
c.166-25C>T (n.166-25C>T)
c.67-25C>T (n.67-25C>T)
c.688-25C>T (n.688-25C>T)
c.373-25C>T (n.373-25C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081593G>CCA7122847NRLc.382-25C>G (n.382-25C>G)
c.-36-25C>G (n.-36-25C>G)
c.481-25C>G (n.481-25C>G)
c.166-25C>G (n.166-25C>G)
c.67-25C>G (n.67-25C>G)
c.688-25C>G (n.688-25C>G)
c.373-25C>G (n.373-25C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081593G=CA2123778065NRLc.382-25C= (n.382-25C=)
c.-36-25C= (n.-36-25C=)
c.481-25C= (n.481-25C=)
c.166-25C= (n.166-25C=)
c.67-25C= (n.67-25C=)
c.688-25C= (n.688-25C=)
c.373-25C= (n.373-25C=)
14g.24081593G>TCA612957041NRLc.382-25C>A (n.382-25C>A)
c.-36-25C>A (n.-36-25C>A)
c.481-25C>A (n.481-25C>A)
c.166-25C>A (n.166-25C>A)
c.67-25C>A (n.67-25C>A)
c.688-25C>A (n.688-25C>A)
c.373-25C>A (n.373-25C>A)
dbSNP gnomAD v2 gnomAD v4
14g.24081593_24081595delCA2800892063NRLc.382-27_382-25del (n.382-27_382-25del)
c.-36-27_-36-25del (n.-36-27_-36-25del)
c.481-27_481-25del (n.481-27_481-25del)
c.166-27_166-25del (n.166-27_166-25del)
c.67-27_67-25del (n.67-27_67-25del)
c.688-27_688-25del (n.688-27_688-25del)
c.373-27_373-25del (n.373-27_373-25del)
14g.24081594G>ACA7122848NRLc.382-26C>T (n.382-26C>T)
c.-36-26C>T (n.-36-26C>T)
c.481-26C>T (n.481-26C>T)
c.166-26C>T (n.166-26C>T)
c.67-26C>T (n.67-26C>T)
c.688-26C>T (n.688-26C>T)
c.373-26C>T (n.373-26C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081594G>CCA2800892064NRLc.382-26C>G (n.382-26C>G)
c.-36-26C>G (n.-36-26C>G)
c.481-26C>G (n.481-26C>G)
c.166-26C>G (n.166-26C>G)
c.67-26C>G (n.67-26C>G)
c.688-26C>G (n.688-26C>G)
c.373-26C>G (n.373-26C>G)
14g.24081594G=CA2123778066NRLc.382-26C= (n.382-26C=)
c.-36-26C= (n.-36-26C=)
c.481-26C= (n.481-26C=)
c.166-26C= (n.166-26C=)
c.67-26C= (n.67-26C=)
c.688-26C= (n.688-26C=)
c.373-26C= (n.373-26C=)
14g.24081594G>TCA7122849NRLc.382-26C>A (n.382-26C>A)
c.-36-26C>A (n.-36-26C>A)
c.481-26C>A (n.481-26C>A)
c.166-26C>A (n.166-26C>A)
c.67-26C>A (n.67-26C>A)
c.688-26C>A (n.688-26C>A)
c.373-26C>A (n.373-26C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081595G>ACA7122850NRLc.382-27C>T (n.382-27C>T)
c.-36-27C>T (n.-36-27C>T)
c.481-27C>T (n.481-27C>T)
c.166-27C>T (n.166-27C>T)
c.67-27C>T (n.67-27C>T)
c.688-27C>T (n.688-27C>T)
c.373-27C>T (n.373-27C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081595G>CCA2624299264NRLc.382-27C>G (n.382-27C>G)
c.-36-27C>G (n.-36-27C>G)
c.481-27C>G (n.481-27C>G)
c.166-27C>G (n.166-27C>G)
c.67-27C>G (n.67-27C>G)
c.688-27C>G (n.688-27C>G)
c.373-27C>G (n.373-27C>G)
gnomAD v4
14g.24081595G=CA2123778069NRLc.382-27C= (n.382-27C=)
c.-36-27C= (n.-36-27C=)
c.481-27C= (n.481-27C=)
c.166-27C= (n.166-27C=)
c.67-27C= (n.67-27C=)
c.688-27C= (n.688-27C=)
c.373-27C= (n.373-27C=)
14g.24081596T>ACA2800892065NRLc.382-28A>T (n.382-28A>T)
c.-36-28A>T (n.-36-28A>T)
c.481-28A>T (n.481-28A>T)
c.166-28A>T (n.166-28A>T)
c.67-28A>T (n.67-28A>T)
c.688-28A>T (n.688-28A>T)
c.373-28A>T (n.373-28A>T)
14g.24081597delCA2800892067NRLc.382-29del (n.382-29del)
c.-36-29del (n.-36-29del)
c.481-29del (n.481-29del)
c.166-29del (n.166-29del)
c.67-29del (n.67-29del)
c.688-29del (n.688-29del)
c.373-29del (n.373-29del)
14g.24081597C>ACA2624299268NRLc.382-29G>T (n.382-29G>T)
c.-36-29G>T (n.-36-29G>T)
c.481-29G>T (n.481-29G>T)
c.166-29G>T (n.166-29G>T)
c.67-29G>T (n.67-29G>T)
c.688-29G>T (n.688-29G>T)
c.373-29G>T (n.373-29G>T)
gnomAD v4
14g.24081597C>GCA2800892066NRLc.382-29G>C (n.382-29G>C)
c.-36-29G>C (n.-36-29G>C)
c.481-29G>C (n.481-29G>C)
c.166-29G>C (n.166-29G>C)
c.67-29G>C (n.67-29G>C)
c.688-29G>C (n.688-29G>C)
c.373-29G>C (n.373-29G>C)
14g.24081598A=CA2123778073NRLc.382-30T= (n.382-30T=)
c.-36-30T= (n.-36-30T=)
c.481-30T= (n.481-30T=)
c.166-30T= (n.166-30T=)
c.67-30T= (n.67-30T=)
c.688-30T= (n.688-30T=)
c.373-30T= (n.373-30T=)
14g.24081598A>GCA612957042NRLc.382-30T>C (n.382-30T>C)
c.-36-30T>C (n.-36-30T>C)
c.481-30T>C (n.481-30T>C)
c.166-30T>C (n.166-30T>C)
c.67-30T>C (n.67-30T>C)
c.688-30T>C (n.688-30T>C)
c.373-30T>C (n.373-30T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081599G>ACA2624299274NRLc.382-31C>T (n.382-31C>T)
c.-36-31C>T (n.-36-31C>T)
c.481-31C>T (n.481-31C>T)
c.166-31C>T (n.166-31C>T)
c.67-31C>T (n.67-31C>T)
c.688-31C>T (n.688-31C>T)
c.373-31C>T (n.373-31C>T)
gnomAD v4
14g.24081601_24081622delCA2624299273NRLc.382-52_382-31del (n.382-52_382-31del)
c.-36-52_-36-31del (n.-36-52_-36-31del)
c.481-52_481-31del (n.481-52_481-31del)
c.166-52_166-31del (n.166-52_166-31del)
c.67-52_67-31del (n.67-52_67-31del)
c.688-52_688-31del (n.688-52_688-31del)
c.373-52_373-31del (n.373-52_373-31del)
gnomAD v4
14g.24081600C>ACA2800892068NRLc.382-32G>T (n.382-32G>T)
c.-36-32G>T (n.-36-32G>T)
c.481-32G>T (n.481-32G>T)
c.166-32G>T (n.166-32G>T)
c.67-32G>T (n.67-32G>T)
c.688-32G>T (n.688-32G>T)
c.373-32G>T (n.373-32G>T)
14g.24081600C=CA2123778078NRLc.382-32G= (n.382-32G=)
c.-36-32G= (n.-36-32G=)
c.481-32G= (n.481-32G=)
c.166-32G= (n.166-32G=)
c.67-32G= (n.67-32G=)
c.688-32G= (n.688-32G=)
c.373-32G= (n.373-32G=)
14g.24081600C>TCA612957043NRLc.382-32G>A (n.382-32G>A)
c.-36-32G>A (n.-36-32G>A)
c.481-32G>A (n.481-32G>A)
c.166-32G>A (n.166-32G>A)
c.67-32G>A (n.67-32G>A)
c.688-32G>A (n.688-32G>A)
c.373-32G>A (n.373-32G>A)
dbSNP gnomAD v2 gnomAD v4
14g.24081601G>ACA7122851NRLc.382-33C>T (n.382-33C>T)
c.-36-33C>T (n.-36-33C>T)
c.481-33C>T (n.481-33C>T)
c.166-33C>T (n.166-33C>T)
c.67-33C>T (n.67-33C>T)
c.688-33C>T (n.688-33C>T)
c.373-33C>T (n.373-33C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081601G>CCA257868194NRLc.382-33C>G (n.382-33C>G)
c.-36-33C>G (n.-36-33C>G)
c.481-33C>G (n.481-33C>G)
c.166-33C>G (n.166-33C>G)
c.67-33C>G (n.67-33C>G)
c.688-33C>G (n.688-33C>G)
c.373-33C>G (n.373-33C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081601G=CA2123778086NRLc.382-33C= (n.382-33C=)
c.-36-33C= (n.-36-33C=)
c.481-33C= (n.481-33C=)
c.166-33C= (n.166-33C=)
c.67-33C= (n.67-33C=)
c.688-33C= (n.688-33C=)
c.373-33C= (n.373-33C=)
14g.24081601G>TCA612957044NRLc.382-33C>A (n.382-33C>A)
c.-36-33C>A (n.-36-33C>A)
c.481-33C>A (n.481-33C>A)
c.166-33C>A (n.166-33C>A)
c.67-33C>A (n.67-33C>A)
c.688-33C>A (n.688-33C>A)
c.373-33C>A (n.373-33C>A)
dbSNP gnomAD v2 gnomAD v4
14g.24081602C>ACA257868202NRLc.382-34G>T (n.382-34G>T)
c.-36-34G>T (n.-36-34G>T)
c.481-34G>T (n.481-34G>T)
c.166-34G>T (n.166-34G>T)
c.67-34G>T (n.67-34G>T)
c.688-34G>T (n.688-34G>T)
c.373-34G>T (n.373-34G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081602C=CA2123778091NRLc.382-34G= (n.382-34G=)
c.-36-34G= (n.-36-34G=)
c.481-34G= (n.481-34G=)
c.166-34G= (n.166-34G=)
c.67-34G= (n.67-34G=)
c.688-34G= (n.688-34G=)
c.373-34G= (n.373-34G=)
14g.24081602C>GCA2800892069NRLc.382-34G>C (n.382-34G>C)
c.-36-34G>C (n.-36-34G>C)
c.481-34G>C (n.481-34G>C)
c.166-34G>C (n.166-34G>C)
c.67-34G>C (n.67-34G>C)
c.688-34G>C (n.688-34G>C)
c.373-34G>C (n.373-34G>C)
14g.24081602C>TCA704330905NRLc.382-34G>A (n.382-34G>A)
c.-36-34G>A (n.-36-34G>A)
c.481-34G>A (n.481-34G>A)
c.166-34G>A (n.166-34G>A)
c.67-34G>A (n.67-34G>A)
c.688-34G>A (n.688-34G>A)
c.373-34G>A (n.373-34G>A)
dbSNP gnomAD v4
14g.24081603C>ACA2624299290NRLc.382-35G>T (n.382-35G>T)
c.-36-35G>T (n.-36-35G>T)
c.481-35G>T (n.481-35G>T)
c.166-35G>T (n.166-35G>T)
c.67-35G>T (n.67-35G>T)
c.688-35G>T (n.688-35G>T)
c.373-35G>T (n.373-35G>T)
gnomAD v4
14g.24081603C=CA2123778094NRLc.382-35G= (n.382-35G=)
c.-36-35G= (n.-36-35G=)
c.481-35G= (n.481-35G=)
c.166-35G= (n.166-35G=)
c.67-35G= (n.67-35G=)
c.688-35G= (n.688-35G=)
c.373-35G= (n.373-35G=)
14g.24081603C>GCA2123778095NRLc.382-35G>C (n.382-35G>C)
c.-36-35G>C (n.-36-35G>C)
c.481-35G>C (n.481-35G>C)
c.166-35G>C (n.166-35G>C)
c.67-35G>C (n.67-35G>C)
c.688-35G>C (n.688-35G>C)
c.373-35G>C (n.373-35G>C)
dbSNP gnomAD v4
14g.24081603C>TCA7122852NRLc.382-35G>A (n.382-35G>A)
c.-36-35G>A (n.-36-35G>A)
c.481-35G>A (n.481-35G>A)
c.166-35G>A (n.166-35G>A)
c.67-35G>A (n.67-35G>A)
c.688-35G>A (n.688-35G>A)
c.373-35G>A (n.373-35G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081604A>GCA2624299293NRLc.382-36T>C (n.382-36T>C)
c.-36-36T>C (n.-36-36T>C)
c.481-36T>C (n.481-36T>C)
c.166-36T>C (n.166-36T>C)
c.67-36T>C (n.67-36T>C)
c.688-36T>C (n.688-36T>C)
c.373-36T>C (n.373-36T>C)
gnomAD v4
14g.24081605G>ACA7122853NRLc.382-37C>T (n.382-37C>T)
c.-36-37C>T (n.-36-37C>T)
c.481-37C>T (n.481-37C>T)
c.166-37C>T (n.166-37C>T)
c.67-37C>T (n.67-37C>T)
c.688-37C>T (n.688-37C>T)
c.373-37C>T (n.373-37C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081605G>CCA2624299298NRLc.382-37C>G (n.382-37C>G)
c.-36-37C>G (n.-36-37C>G)
c.481-37C>G (n.481-37C>G)
c.166-37C>G (n.166-37C>G)
c.67-37C>G (n.67-37C>G)
c.688-37C>G (n.688-37C>G)
c.373-37C>G (n.373-37C>G)
gnomAD v4
14g.24081605G=CA2123778098NRLc.382-37C= (n.382-37C=)
c.-36-37C= (n.-36-37C=)
c.481-37C= (n.481-37C=)
c.166-37C= (n.166-37C=)
c.67-37C= (n.67-37C=)
c.688-37C= (n.688-37C=)
c.373-37C= (n.373-37C=)
14g.24081605_24081606insAGACA2800892070NRLc.382-38_382-37insTCT (n.382-38_382-37insTCT)
c.-36-38_-36-37insTCT (n.-36-38_-36-37insTCT)
c.481-38_481-37insTCT (n.481-38_481-37insTCT)
c.166-38_166-37insTCT (n.166-38_166-37insTCT)
c.67-38_67-37insTCT (n.67-38_67-37insTCT)
c.688-38_688-37insTCT (n.688-38_688-37insTCT)
c.373-38_373-37insTCT (n.373-38_373-37insTCT)
14g.24081606G>ACA612957045NRLc.382-38C>T (n.382-38C>T)
c.-36-38C>T (n.-36-38C>T)
c.481-38C>T (n.481-38C>T)
c.166-38C>T (n.166-38C>T)
c.67-38C>T (n.67-38C>T)
c.688-38C>T (n.688-38C>T)
c.373-38C>T (n.373-38C>T)
dbSNP gnomAD v2 gnomAD v4
14g.24081606G=CA2123778101NRLc.382-38C= (n.382-38C=)
c.-36-38C= (n.-36-38C=)
c.481-38C= (n.481-38C=)
c.166-38C= (n.166-38C=)
c.67-38C= (n.67-38C=)
c.688-38C= (n.688-38C=)
c.373-38C= (n.373-38C=)
14g.24081607T>CCA2550393078NRLc.382-39A>G (n.382-39A>G)
c.-36-39A>G (n.-36-39A>G)
c.481-39A>G (n.481-39A>G)
c.166-39A>G (n.166-39A>G)
c.67-39A>G (n.67-39A>G)
c.688-39A>G (n.688-39A>G)
c.373-39A>G (n.373-39A>G)
gnomAD v4
14g.24081607_24081608delCA2800892071NRLc.382-40_382-39del (n.382-40_382-39del)
c.-36-40_-36-39del (n.-36-40_-36-39del)
c.481-40_481-39del (n.481-40_481-39del)
c.166-40_166-39del (n.166-40_166-39del)
c.67-40_67-39del (n.67-40_67-39del)
c.688-40_688-39del (n.688-40_688-39del)
c.373-40_373-39del (n.373-40_373-39del)

Number of alleles fetched