Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24081345_24081386delCA2624298089NRLc.571_612del (p.Arg191_Glu204del)
c.154_195del (p.Arg52_Glu65del)
c.670_711del (p.Arg224_Glu237del)
c.355_396del (p.Arg119_Glu132del)
c.256_297del (p.Arg86_Glu99del)
c.877_918del (p.Arg293_Glu306del)
c.562_603del (p.Arg188_Glu201del)
 gnomAD v4
14g.24081370_24081389dupCA2624298208NRLc.561_580dup (p.Leu194ArgfsTer36)
c.144_163dup (p.Leu55ArgfsTer36)
c.660_679dup (p.Leu227ArgfsTer36)
c.345_364dup (p.Leu122ArgfsTer36)
c.246_265dup (p.Leu89ArgfsTer36)
c.867_886dup (p.Leu296ArgfsTer36)
c.552_571dup (p.Leu191ArgfsTer36)
 gnomAD v4
14g.24081378C>ACA389277345NRLc.572G>T (p.Arg191Leu)
c.155G>T (p.Arg52Leu)
c.671G>T (p.Arg224Leu)
c.356G>T (p.Arg119Leu)
c.257G>T (p.Arg86Leu)
c.878G>T (p.Arg293Leu)
c.563G>T (p.Arg188Leu)
 gnomAD v4
14g.24081378C>GCA389277356NRLc.572G>C (p.Arg191Pro)
c.155G>C (p.Arg52Pro)
c.671G>C (p.Arg224Pro)
c.356G>C (p.Arg119Pro)
c.257G>C (p.Arg86Pro)
c.878G>C (p.Arg293Pro)
c.563G>C (p.Arg188Pro)
14g.24081378C>TCA389277360NRLc.572G>A (p.Arg191His)
c.155G>A (p.Arg52His)
c.671G>A (p.Arg224His)
c.356G>A (p.Arg119His)
c.257G>A (p.Arg86His)
c.878G>A (p.Arg293His)
c.563G>A (p.Arg188His)
 gnomAD v4
14g.24081378_24081379insCCCACGGTCA2624298250NRLc.571_572insACCGTGGG (p.Arg191HisfsTer?)
c.154_155insACCGTGGG (p.Arg52HisfsTer?)
c.670_671insACCGTGGG (p.Arg224HisfsTer?)
c.355_356insACCGTGGG (p.Arg119HisfsTer?)
c.256_257insACCGTGGG (p.Arg86HisfsTer?)
c.877_878insACCGTGGG (p.Arg293HisfsTer?)
c.562_563insACCGTGGG (p.Arg188HisfsTer?)
 gnomAD v4
14g.24081379G>ACA389277363NRLc.571C>T (p.Arg191Cys)
c.154C>T (p.Arg52Cys)
c.670C>T (p.Arg224Cys)
c.355C>T (p.Arg119Cys)
c.256C>T (p.Arg86Cys)
c.877C>T (p.Arg293Cys)
c.562C>T (p.Arg188Cys)
 gnomAD v4
14g.24081379G>CCA389277368NRLc.571C>G (p.Arg191Gly)
c.154C>G (p.Arg52Gly)
c.670C>G (p.Arg224Gly)
c.355C>G (p.Arg119Gly)
c.256C>G (p.Arg86Gly)
c.877C>G (p.Arg293Gly)
c.562C>G (p.Arg188Gly)
14g.24081379G>TCA389277370NRLc.571C>A (p.Arg191Ser)
c.154C>A (p.Arg52Ser)
c.670C>A (p.Arg224Ser)
c.355C>A (p.Arg119Ser)
c.256C>A (p.Arg86Ser)
c.877C>A (p.Arg293Ser)
c.562C>A (p.Arg188Ser)
 gnomAD v4
14g.24081380C>ACA389277373NRLc.570G>T (p.Glu190Asp)
c.153G>T (p.Glu51Asp)
c.669G>T (p.Glu223Asp)
c.354G>T (p.Glu118Asp)
c.255G>T (p.Glu85Asp)
c.876G>T (p.Glu292Asp)
c.561G>T (p.Glu187Asp)
 gnomAD v4
14g.24081380C>GCA389277372NRLc.570G>C (p.Glu190Asp)
c.153G>C (p.Glu51Asp)
c.669G>C (p.Glu223Asp)
c.354G>C (p.Glu118Asp)
c.255G>C (p.Glu85Asp)
c.876G>C (p.Glu292Asp)
c.561G>C (p.Glu187Asp)
 gnomAD v4
14g.24081380C>TCA485775743NRLc.570G>A (p.Glu190=)
c.153G>A (p.Glu51=)
c.669G>A (p.Glu223=)
c.354G>A (p.Glu118=)
c.255G>A (p.Glu85=)
c.876G>A (p.Glu292=)
c.561G>A (p.Glu187=)
14g.24081381T>ACA389277374NRLc.569A>T (p.Glu190Val)
c.152A>T (p.Glu51Val)
c.668A>T (p.Glu223Val)
c.353A>T (p.Glu118Val)
c.254A>T (p.Glu85Val)
c.875A>T (p.Glu292Val)
c.560A>T (p.Glu187Val)
 gnomAD v4
14g.24081381T>CCA389277378NRLc.569A>G (p.Glu190Gly)
c.152A>G (p.Glu51Gly)
c.668A>G (p.Glu223Gly)
c.353A>G (p.Glu118Gly)
c.254A>G (p.Glu85Gly)
c.875A>G (p.Glu292Gly)
c.560A>G (p.Glu187Gly)
 dbSNP gnomAD v4
14g.24081381T>GCA389277385NRLc.569A>C (p.Glu190Ala)
c.152A>C (p.Glu51Ala)
c.668A>C (p.Glu223Ala)
c.353A>C (p.Glu118Ala)
c.254A>C (p.Glu85Ala)
c.875A>C (p.Glu292Ala)
c.560A>C (p.Glu187Ala)
14g.24081382C>ACA389277390NRLc.568G>T (p.Glu190Ter)
c.151G>T (p.Glu51Ter)
c.667G>T (p.Glu223Ter)
c.352G>T (p.Glu118Ter)
c.253G>T (p.Glu85Ter)
c.874G>T (p.Glu292Ter)
c.559G>T (p.Glu187Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081382C=CA2123777511NRLc.568G= (p.Glu190=)
c.151G= (p.Glu51=)
c.667G= (p.Glu223=)
c.352G= (p.Glu118=)
c.253G= (p.Glu85=)
c.874G= (p.Glu292=)
c.559G= (p.Glu187=)
14g.24081382C>GCA389277401NRLc.568G>C (p.Glu190Gln)
c.151G>C (p.Glu51Gln)
c.667G>C (p.Glu223Gln)
c.352G>C (p.Glu118Gln)
c.253G>C (p.Glu85Gln)
c.874G>C (p.Glu292Gln)
c.559G>C (p.Glu187Gln)
 gnomAD v4
14g.24081382C>TCA389277402NRLc.568G>A (p.Glu190Lys)
c.151G>A (p.Glu51Lys)
c.667G>A (p.Glu223Lys)
c.352G>A (p.Glu118Lys)
c.253G>A (p.Glu85Lys)
c.874G>A (p.Glu292Lys)
c.559G>A (p.Glu187Lys)
 gnomAD v4
14g.24081383G>ACA485775750NRLc.567C>T (p.Ala189=)
c.150C>T (p.Ala50=)
c.666C>T (p.Ala222=)
c.351C>T (p.Ala117=)
c.252C>T (p.Ala84=)
c.873C>T (p.Ala291=)
c.558C>T (p.Ala186=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081383G>CCA485775748NRLc.567C>G (p.Ala189=)
c.150C>G (p.Ala50=)
c.666C>G (p.Ala222=)
c.351C>G (p.Ala117=)
c.252C>G (p.Ala84=)
c.873C>G (p.Ala291=)
c.558C>G (p.Ala186=)
 dbSNP gnomAD v4
14g.24081383G=CA2123777518NRLc.567C= (p.Ala189=)
c.150C= (p.Ala50=)
c.666C= (p.Ala222=)
c.351C= (p.Ala117=)
c.252C= (p.Ala84=)
c.873C= (p.Ala291=)
c.558C= (p.Ala186=)
14g.24081383G>TCA485775749NRLc.567C>A (p.Ala189=)
c.150C>A (p.Ala50=)
c.666C>A (p.Ala222=)
c.351C>A (p.Ala117=)
c.252C>A (p.Ala84=)
c.873C>A (p.Ala291=)
c.558C>A (p.Ala186=)
 gnomAD v4
14g.24081384dupCA2573149788NRLc.567dup (p.Glu190ArgfsTer?)
c.150dup (p.Glu51ArgfsTer?)
c.666dup (p.Glu223ArgfsTer?)
c.351dup (p.Glu118ArgfsTer?)
c.252dup (p.Glu85ArgfsTer?)
c.873dup (p.Glu292ArgfsTer?)
c.558dup (p.Glu187ArgfsTer?)
 ClinVar dbSNP
14g.24081384G>ACA389277407NRLc.566C>T (p.Ala189Val)
c.149C>T (p.Ala50Val)
c.665C>T (p.Ala222Val)
c.350C>T (p.Ala117Val)
c.251C>T (p.Ala84Val)
c.872C>T (p.Ala291Val)
c.557C>T (p.Ala186Val)
 dbSNP gnomAD v3 gnomAD v4
14g.24081384G>CCA389277403NRLc.566C>G (p.Ala189Gly)
c.149C>G (p.Ala50Gly)
c.665C>G (p.Ala222Gly)
c.350C>G (p.Ala117Gly)
c.251C>G (p.Ala84Gly)
c.872C>G (p.Ala291Gly)
c.557C>G (p.Ala186Gly)
 gnomAD v4
14g.24081384G=CA2123777525NRLc.566C= (p.Ala189=)
c.149C= (p.Ala50=)
c.665C= (p.Ala222=)
c.350C= (p.Ala117=)
c.251C= (p.Ala84=)
c.872C= (p.Ala291=)
c.557C= (p.Ala186=)
14g.24081384G>TCA389277404NRLc.566C>A (p.Ala189Asp)
c.149C>A (p.Ala50Asp)
c.665C>A (p.Ala222Asp)
c.350C>A (p.Ala117Asp)
c.251C>A (p.Ala84Asp)
c.872C>A (p.Ala291Asp)
c.557C>A (p.Ala186Asp)
 gnomAD v4
14g.24081385C>ACA389277411NRLc.565G>T (p.Ala189Ser)
c.148G>T (p.Ala50Ser)
c.664G>T (p.Ala222Ser)
c.349G>T (p.Ala117Ser)
c.250G>T (p.Ala84Ser)
c.871G>T (p.Ala291Ser)
c.556G>T (p.Ala186Ser)
 gnomAD v4
14g.24081385C>GCA389277420NRLc.565G>C (p.Ala189Pro)
c.148G>C (p.Ala50Pro)
c.664G>C (p.Ala222Pro)
c.349G>C (p.Ala117Pro)
c.250G>C (p.Ala84Pro)
c.871G>C (p.Ala291Pro)
c.556G>C (p.Ala186Pro)
14g.24081385C>TCA389277422NRLc.565G>A (p.Ala189Thr)
c.148G>A (p.Ala50Thr)
c.664G>A (p.Ala222Thr)
c.349G>A (p.Ala117Thr)
c.250G>A (p.Ala84Thr)
c.871G>A (p.Ala291Thr)
c.556G>A (p.Ala186Thr)
 ClinVar gnomAD v4
14g.24081386C>ACA257868074NRLc.564G>T (p.Glu188Asp)
c.147G>T (p.Glu49Asp)
c.663G>T (p.Glu221Asp)
c.348G>T (p.Glu116Asp)
c.249G>T (p.Glu83Asp)
c.870G>T (p.Glu290Asp)
c.555G>T (p.Glu185Asp)
 dbSNP gnomAD v4
14g.24081386C=CA2123777530NRLc.564G= (p.Glu188=)
c.147G= (p.Glu49=)
c.663G= (p.Glu221=)
c.348G= (p.Glu116=)
c.249G= (p.Glu83=)
c.870G= (p.Glu290=)
c.555G= (p.Glu185=)
14g.24081386C>GCA389277425NRLc.564G>C (p.Glu188Asp)
c.147G>C (p.Glu49Asp)
c.663G>C (p.Glu221Asp)
c.348G>C (p.Glu116Asp)
c.249G>C (p.Glu83Asp)
c.870G>C (p.Glu290Asp)
c.555G>C (p.Glu185Asp)
14g.24081386C>TCA485775757NRLc.564G>A (p.Glu188=)
c.147G>A (p.Glu49=)
c.663G>A (p.Glu221=)
c.348G>A (p.Glu116=)
c.249G>A (p.Glu83=)
c.870G>A (p.Glu290=)
c.555G>A (p.Glu185=)
 dbSNP gnomAD v3 gnomAD v4
14g.24081387T>ACA389277427NRLc.563A>T (p.Glu188Val)
c.146A>T (p.Glu49Val)
c.662A>T (p.Glu221Val)
c.347A>T (p.Glu116Val)
c.248A>T (p.Glu83Val)
c.869A>T (p.Glu290Val)
c.554A>T (p.Glu185Val)
14g.24081387T>CCA389277437NRLc.563A>G (p.Glu188Gly)
c.146A>G (p.Glu49Gly)
c.662A>G (p.Glu221Gly)
c.347A>G (p.Glu116Gly)
c.248A>G (p.Glu83Gly)
c.869A>G (p.Glu290Gly)
c.554A>G (p.Glu185Gly)
 dbSNP
14g.24081387T>GCA257868075NRLc.563A>C (p.Glu188Ala)
c.146A>C (p.Glu49Ala)
c.662A>C (p.Glu221Ala)
c.347A>C (p.Glu116Ala)
c.248A>C (p.Glu83Ala)
c.869A>C (p.Glu290Ala)
c.554A>C (p.Glu185Ala)
 dbSNP gnomAD v4
14g.24081387T=CA2123777538NRLc.563A= (p.Glu188=)
c.146A= (p.Glu49=)
c.662A= (p.Glu221=)
c.347A= (p.Glu116=)
c.248A= (p.Glu83=)
c.869A= (p.Glu290=)
c.554A= (p.Glu185=)
14g.24081388C>ACA389277440NRLc.562G>T (p.Glu188Ter)
c.145G>T (p.Glu49Ter)
c.661G>T (p.Glu221Ter)
c.346G>T (p.Glu116Ter)
c.247G>T (p.Glu83Ter)
c.868G>T (p.Glu290Ter)
c.553G>T (p.Glu185Ter)
 dbSNP gnomAD v2 gnomAD v4
14g.24081388C=CA2123777542NRLc.562G= (p.Glu188=)
c.145G= (p.Glu49=)
c.661G= (p.Glu221=)
c.346G= (p.Glu116=)
c.247G= (p.Glu83=)
c.868G= (p.Glu290=)
c.553G= (p.Glu185=)
14g.24081388C>GCA389277441NRLc.562G>C (p.Glu188Gln)
c.145G>C (p.Glu49Gln)
c.661G>C (p.Glu221Gln)
c.346G>C (p.Glu116Gln)
c.247G>C (p.Glu83Gln)
c.868G>C (p.Glu290Gln)
c.553G>C (p.Glu185Gln)
14g.24081388C>TCA389277442NRLc.562G>A (p.Glu188Lys)
c.145G>A (p.Glu49Lys)
c.661G>A (p.Glu221Lys)
c.346G>A (p.Glu116Lys)
c.247G>A (p.Glu83Lys)
c.868G>A (p.Glu290Lys)
c.553G>A (p.Glu185Lys)
14g.24081388_24081389insACA613319061NRLc.561_562insT (p.Glu188Ter)
c.144_145insT (p.Glu49Ter)
c.660_661insT (p.Glu221Ter)
c.345_346insT (p.Glu116Ter)
c.246_247insT (p.Glu83Ter)
c.867_868insT (p.Glu290Ter)
c.552_553insT (p.Glu185Ter)
 dbSNP gnomAD v2 gnomAD v4
14g.24081389C>ACA485775765NRLc.561G>T (p.Leu187=)
c.144G>T (p.Leu48=)
c.660G>T (p.Leu220=)
c.345G>T (p.Leu115=)
c.246G>T (p.Leu82=)
c.867G>T (p.Leu289=)
c.552G>T (p.Leu184=)
 gnomAD v4
14g.24081389C>GCA485775766NRLc.561G>C (p.Leu187=)
c.144G>C (p.Leu48=)
c.660G>C (p.Leu220=)
c.345G>C (p.Leu115=)
c.246G>C (p.Leu82=)
c.867G>C (p.Leu289=)
c.552G>C (p.Leu184=)
14g.24081389C>TCA485775767NRLc.561G>A (p.Leu187=)
c.144G>A (p.Leu48=)
c.660G>A (p.Leu220=)
c.345G>A (p.Leu115=)
c.246G>A (p.Leu82=)
c.867G>A (p.Leu289=)
c.552G>A (p.Leu184=)
 gnomAD v4
14g.24081390A=CA2123777549NRLc.560T= (p.Leu187=)
c.143T= (p.Leu48=)
c.659T= (p.Leu220=)
c.344T= (p.Leu115=)
c.245T= (p.Leu82=)
c.866T= (p.Leu289=)
c.551T= (p.Leu184=)
14g.24081390A>CCA389277443NRLc.560T>G (p.Leu187Arg)
c.143T>G (p.Leu48Arg)
c.659T>G (p.Leu220Arg)
c.344T>G (p.Leu115Arg)
c.245T>G (p.Leu82Arg)
c.866T>G (p.Leu289Arg)
c.551T>G (p.Leu184Arg)
14g.24081390A>GCA389277444NRLc.560T>C (p.Leu187Pro)
c.143T>C (p.Leu48Pro)
c.659T>C (p.Leu220Pro)
c.344T>C (p.Leu115Pro)
c.245T>C (p.Leu82Pro)
c.866T>C (p.Leu289Pro)
c.551T>C (p.Leu184Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched