Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.24081284T>ACA485775452NRLc.666A>T (p.Leu222=)
c.249A>T (p.Leu83=)
c.765A>T (p.Leu255=)
c.450A>T (p.Leu150=)
c.351A>T (p.Leu117=)
c.972A>T (p.Leu324=)
c.657A>T (p.Leu219=)
14g.24081284T>CCA485775453NRLc.666A>G (p.Leu222=)
c.249A>G (p.Leu83=)
c.765A>G (p.Leu255=)
c.450A>G (p.Leu150=)
c.351A>G (p.Leu117=)
c.972A>G (p.Leu324=)
c.657A>G (p.Leu219=)
 gnomAD v4
14g.24081284T>GCA485775454NRLc.666A>C (p.Leu222=)
c.249A>C (p.Leu83=)
c.765A>C (p.Leu255=)
c.450A>C (p.Leu150=)
c.351A>C (p.Leu117=)
c.972A>C (p.Leu324=)
c.657A>C (p.Leu219=)
14g.24081285A>CCA389276294NRLc.665T>G (p.Leu222Arg)
c.248T>G (p.Leu83Arg)
c.764T>G (p.Leu255Arg)
c.449T>G (p.Leu150Arg)
c.350T>G (p.Leu117Arg)
c.971T>G (p.Leu324Arg)
c.656T>G (p.Leu219Arg)
14g.24081285A>GCA389276299NRLc.665T>C (p.Leu222Pro)
c.248T>C (p.Leu83Pro)
c.764T>C (p.Leu255Pro)
c.449T>C (p.Leu150Pro)
c.350T>C (p.Leu117Pro)
c.971T>C (p.Leu324Pro)
c.656T>C (p.Leu219Pro)
 gnomAD v4
14g.24081285A>TCA389276301NRLc.665T>A (p.Leu222Gln)
c.248T>A (p.Leu83Gln)
c.764T>A (p.Leu255Gln)
c.449T>A (p.Leu150Gln)
c.350T>A (p.Leu117Gln)
c.971T>A (p.Leu324Gln)
c.656T>A (p.Leu219Gln)
14g.24081286delCA2624297819NRLc.664del (p.Leu222Ter)
c.247del (p.Leu83Ter)
c.763del (p.Leu255Ter)
c.448del (p.Leu150Ter)
c.349del (p.Leu117Ter)
c.970del (p.Leu324Ter)
c.655del (p.Leu219Ter)
 gnomAD v4
14g.24081286G>ACA485775455NRLc.664C>T (p.Leu222=)
c.247C>T (p.Leu83=)
c.763C>T (p.Leu255=)
c.448C>T (p.Leu150=)
c.349C>T (p.Leu117=)
c.970C>T (p.Leu324=)
c.655C>T (p.Leu219=)
 gnomAD v4
14g.24081286G>CCA389276305NRLc.664C>G (p.Leu222Val)
c.247C>G (p.Leu83Val)
c.763C>G (p.Leu255Val)
c.448C>G (p.Leu150Val)
c.349C>G (p.Leu117Val)
c.970C>G (p.Leu324Val)
c.655C>G (p.Leu219Val)
14g.24081286G>TCA389276311NRLc.664C>A (p.Leu222Ile)
c.247C>A (p.Leu83Ile)
c.763C>A (p.Leu255Ile)
c.448C>A (p.Leu150Ile)
c.349C>A (p.Leu117Ile)
c.970C>A (p.Leu324Ile)
c.655C>A (p.Leu219Ile)
 gnomAD v4
14g.24081287C>ACA485775458NRLc.663G>T (p.Arg221=)
c.246G>T (p.Arg82=)
c.762G>T (p.Arg254=)
c.447G>T (p.Arg149=)
c.348G>T (p.Arg116=)
c.969G>T (p.Arg323=)
c.654G>T (p.Arg218=)
 gnomAD v4
14g.24081287C=CA2123777271NRLc.663G= (p.Arg221=)
c.246G= (p.Arg82=)
c.762G= (p.Arg254=)
c.447G= (p.Arg149=)
c.348G= (p.Arg116=)
c.969G= (p.Arg323=)
c.654G= (p.Arg218=)
14g.24081287C>GCA485775456NRLc.663G>C (p.Arg221=)
c.246G>C (p.Arg82=)
c.762G>C (p.Arg254=)
c.447G>C (p.Arg149=)
c.348G>C (p.Arg116=)
c.969G>C (p.Arg323=)
c.654G>C (p.Arg218=)
 gnomAD v4
14g.24081287C>TCA485775457NRLc.663G>A (p.Arg221=)
c.246G>A (p.Arg82=)
c.762G>A (p.Arg254=)
c.447G>A (p.Arg149=)
c.348G>A (p.Arg116=)
c.969G>A (p.Arg323=)
c.654G>A (p.Arg218=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081288delCA2624297822NRLc.663del (p.Leu222Ter)
c.246del (p.Leu83Ter)
c.762del (p.Leu255Ter)
c.447del (p.Leu150Ter)
c.348del (p.Leu117Ter)
c.969del (p.Leu324Ter)
c.654del (p.Leu219Ter)
 gnomAD v4
14g.24081288C>ACA389276314NRLc.662G>T (p.Arg221Leu)
c.245G>T (p.Arg82Leu)
c.761G>T (p.Arg254Leu)
c.446G>T (p.Arg149Leu)
c.347G>T (p.Arg116Leu)
c.968G>T (p.Arg323Leu)
c.653G>T (p.Arg218Leu)
 gnomAD v4
14g.24081288C>GCA389276318NRLc.662G>C (p.Arg221Pro)
c.245G>C (p.Arg82Pro)
c.761G>C (p.Arg254Pro)
c.446G>C (p.Arg149Pro)
c.347G>C (p.Arg116Pro)
c.968G>C (p.Arg323Pro)
c.653G>C (p.Arg218Pro)
 gnomAD v4
14g.24081288C>TCA389276321NRLc.662G>A (p.Arg221Gln)
c.245G>A (p.Arg82Gln)
c.761G>A (p.Arg254Gln)
c.446G>A (p.Arg149Gln)
c.347G>A (p.Arg116Gln)
c.968G>A (p.Arg323Gln)
c.653G>A (p.Arg218Gln)
 gnomAD v4
14g.24081289G>ACA389276337NRLc.661C>T (p.Arg221Trp)
c.244C>T (p.Arg82Trp)
c.760C>T (p.Arg254Trp)
c.445C>T (p.Arg149Trp)
c.346C>T (p.Arg116Trp)
c.967C>T (p.Arg323Trp)
c.652C>T (p.Arg218Trp)
 dbSNP gnomAD v4
14g.24081289G>CCA389276335NRLc.661C>G (p.Arg221Gly)
c.244C>G (p.Arg82Gly)
c.760C>G (p.Arg254Gly)
c.445C>G (p.Arg149Gly)
c.346C>G (p.Arg116Gly)
c.967C>G (p.Arg323Gly)
c.652C>G (p.Arg218Gly)
14g.24081289G=CA2123777274NRLc.661C= (p.Arg221=)
c.244C= (p.Arg82=)
c.760C= (p.Arg254=)
c.445C= (p.Arg149=)
c.346C= (p.Arg116=)
c.967C= (p.Arg323=)
c.652C= (p.Arg218=)
14g.24081289G>TCA485775459NRLc.661C>A (p.Arg221=)
c.244C>A (p.Arg82=)
c.760C>A (p.Arg254=)
c.445C>A (p.Arg149=)
c.346C>A (p.Arg116=)
c.967C>A (p.Arg323=)
c.652C>A (p.Arg218=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081290G>ACA257868047NRLc.660C>T (p.Asp220=)
c.243C>T (p.Asp81=)
c.759C>T (p.Asp253=)
c.444C>T (p.Asp148=)
c.345C>T (p.Asp115=)
c.966C>T (p.Asp322=)
c.651C>T (p.Asp217=)
 dbSNP gnomAD v3 gnomAD v4
14g.24081290G>CCA389276339NRLc.660C>G (p.Asp220Glu)
c.243C>G (p.Asp81Glu)
c.759C>G (p.Asp253Glu)
c.444C>G (p.Asp148Glu)
c.345C>G (p.Asp115Glu)
c.966C>G (p.Asp322Glu)
c.651C>G (p.Asp217Glu)
14g.24081290G=CA2123777276NRLc.660C= (p.Asp220=)
c.243C= (p.Asp81=)
c.759C= (p.Asp253=)
c.444C= (p.Asp148=)
c.345C= (p.Asp115=)
c.966C= (p.Asp322=)
c.651C= (p.Asp217=)
14g.24081290G>TCA389276341NRLc.660C>A (p.Asp220Glu)
c.243C>A (p.Asp81Glu)
c.759C>A (p.Asp253Glu)
c.444C>A (p.Asp148Glu)
c.345C>A (p.Asp115Glu)
c.966C>A (p.Asp322Glu)
c.651C>A (p.Asp217Glu)
 gnomAD v4
14g.24081291T>ACA389276347NRLc.659A>T (p.Asp220Val)
c.242A>T (p.Asp81Val)
c.758A>T (p.Asp253Val)
c.443A>T (p.Asp148Val)
c.344A>T (p.Asp115Val)
c.965A>T (p.Asp322Val)
c.650A>T (p.Asp217Val)
14g.24081291T>CCA389276351NRLc.659A>G (p.Asp220Gly)
c.242A>G (p.Asp81Gly)
c.758A>G (p.Asp253Gly)
c.443A>G (p.Asp148Gly)
c.344A>G (p.Asp115Gly)
c.965A>G (p.Asp322Gly)
c.650A>G (p.Asp217Gly)
 gnomAD v4
14g.24081291T>GCA389276354NRLc.659A>C (p.Asp220Ala)
c.242A>C (p.Asp81Ala)
c.758A>C (p.Asp253Ala)
c.443A>C (p.Asp148Ala)
c.344A>C (p.Asp115Ala)
c.965A>C (p.Asp322Ala)
c.650A>C (p.Asp217Ala)
14g.24081292C>ACA389276357NRLc.658G>T (p.Asp220Tyr)
c.241G>T (p.Asp81Tyr)
c.757G>T (p.Asp253Tyr)
c.442G>T (p.Asp148Tyr)
c.343G>T (p.Asp115Tyr)
c.964G>T (p.Asp322Tyr)
c.649G>T (p.Asp217Tyr)
 gnomAD v4
14g.24081292C=CA2123777283NRLc.658G= (p.Asp220=)
c.241G= (p.Asp81=)
c.757G= (p.Asp253=)
c.442G= (p.Asp148=)
c.343G= (p.Asp115=)
c.964G= (p.Asp322=)
c.649G= (p.Asp217=)
14g.24081292C>GCA389276362NRLc.658G>C (p.Asp220His)
c.241G>C (p.Asp81His)
c.757G>C (p.Asp253His)
c.442G>C (p.Asp148His)
c.343G>C (p.Asp115His)
c.964G>C (p.Asp322His)
c.649G>C (p.Asp217His)
 dbSNP gnomAD v3 gnomAD v4
14g.24081292C>TCA389276366NRLc.658G>A (p.Asp220Asn)
c.241G>A (p.Asp81Asn)
c.757G>A (p.Asp253Asn)
c.442G>A (p.Asp148Asn)
c.343G>A (p.Asp115Asn)
c.964G>A (p.Asp322Asn)
c.649G>A (p.Asp217Asn)
 gnomAD v4
14g.24081293A=CA2123777285NRLc.657T= (p.Cys219=)
c.240T= (p.Cys80=)
c.756T= (p.Cys252=)
c.441T= (p.Cys147=)
c.342T= (p.Cys114=)
c.963T= (p.Cys321=)
c.648T= (p.Cys216=)
14g.24081293A>CCA389276374NRLc.657T>G (p.Cys219Trp)
c.240T>G (p.Cys80Trp)
c.756T>G (p.Cys252Trp)
c.441T>G (p.Cys147Trp)
c.342T>G (p.Cys114Trp)
c.963T>G (p.Cys321Trp)
c.648T>G (p.Cys216Trp)
14g.24081293A>GCA485775460NRLc.657T>C (p.Cys219=)
c.240T>C (p.Cys80=)
c.756T>C (p.Cys252=)
c.441T>C (p.Cys147=)
c.342T>C (p.Cys114=)
c.963T>C (p.Cys321=)
c.648T>C (p.Cys216=)
 dbSNP gnomAD v4
14g.24081293A>TCA389276382NRLc.657T>A (p.Cys219Ter)
c.240T>A (p.Cys80Ter)
c.756T>A (p.Cys252Ter)
c.441T>A (p.Cys147Ter)
c.342T>A (p.Cys114Ter)
c.963T>A (p.Cys321Ter)
c.648T>A (p.Cys216Ter)
14g.24081294C>ACA389276385NRLc.656G>T (p.Cys219Phe)
c.239G>T (p.Cys80Phe)
c.755G>T (p.Cys252Phe)
c.440G>T (p.Cys147Phe)
c.341G>T (p.Cys114Phe)
c.962G>T (p.Cys321Phe)
c.647G>T (p.Cys216Phe)
 gnomAD v4
14g.24081294C>GCA389276388NRLc.656G>C (p.Cys219Ser)
c.239G>C (p.Cys80Ser)
c.755G>C (p.Cys252Ser)
c.440G>C (p.Cys147Ser)
c.341G>C (p.Cys114Ser)
c.962G>C (p.Cys321Ser)
c.647G>C (p.Cys216Ser)
 gnomAD v4
14g.24081294C>TCA389276390NRLc.656G>A (p.Cys219Tyr)
c.239G>A (p.Cys80Tyr)
c.755G>A (p.Cys252Tyr)
c.440G>A (p.Cys147Tyr)
c.341G>A (p.Cys114Tyr)
c.962G>A (p.Cys321Tyr)
c.647G>A (p.Cys216Tyr)
 gnomAD v4
14g.24081294_24081295delinsCACA2123777292NRLc.655_656delinsTG (p.Cys219=)
c.238_239delinsTG (p.Cys80=)
c.754_755delinsTG (p.Cys252=)
c.439_440delinsTG (p.Cys147=)
c.340_341delinsTG (p.Cys114=)
c.961_962delinsTG (p.Cys321=)
c.646_647delinsTG (p.Cys216=)
14g.24081295delCA2123777296NRLc.655del (p.Cys219ValfsTer4)
c.238del (p.Cys80ValfsTer4)
c.754del (p.Cys252ValfsTer4)
c.439del (p.Cys147ValfsTer4)
c.340del (p.Cys114ValfsTer4)
c.961del (p.Cys321ValfsTer4)
c.646del (p.Cys216ValfsTer4)
 dbSNP
14g.24081295A>CCA389276399NRLc.655T>G (p.Cys219Gly)
c.238T>G (p.Cys80Gly)
c.754T>G (p.Cys252Gly)
c.439T>G (p.Cys147Gly)
c.340T>G (p.Cys114Gly)
c.961T>G (p.Cys321Gly)
c.646T>G (p.Cys216Gly)
14g.24081295A>GCA389276402NRLc.655T>C (p.Cys219Arg)
c.238T>C (p.Cys80Arg)
c.754T>C (p.Cys252Arg)
c.439T>C (p.Cys147Arg)
c.340T>C (p.Cys114Arg)
c.961T>C (p.Cys321Arg)
c.646T>C (p.Cys216Arg)
 gnomAD v4
14g.24081295A>TCA389276396NRLc.655T>A (p.Cys219Ser)
c.238T>A (p.Cys80Ser)
c.754T>A (p.Cys252Ser)
c.439T>A (p.Cys147Ser)
c.340T>A (p.Cys114Ser)
c.961T>A (p.Cys321Ser)
c.646T>A (p.Cys216Ser)
 gnomAD v4
14g.24081295_24081296delinsAGCA2123777295NRLc.654_655delinsCT (p.Arg218=)
c.237_238delinsCT (p.Arg79=)
c.753_754delinsCT (p.Arg251=)
c.438_439delinsCT (p.Arg146=)
c.339_340delinsCT (p.Arg113=)
c.960_961delinsCT (p.Arg320=)
c.645_646delinsCT (p.Arg215=)
14g.24081296delCA7122817NRLc.654del (p.Cys219ValfsTer4)
c.237del (p.Cys80ValfsTer4)
c.753del (p.Cys252ValfsTer4)
c.438del (p.Cys147ValfsTer4)
c.339del (p.Cys114ValfsTer4)
c.960del (p.Cys321ValfsTer4)
c.645del (p.Cys216ValfsTer4)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081296G>ACA485775462NRLc.654C>T (p.Arg218=)
c.237C>T (p.Arg79=)
c.753C>T (p.Arg251=)
c.438C>T (p.Arg146=)
c.339C>T (p.Arg113=)
c.960C>T (p.Arg320=)
c.645C>T (p.Arg215=)
 gnomAD v4
14g.24081296G>CCA257868048NRLc.654C>G (p.Arg218=)
c.237C>G (p.Arg79=)
c.753C>G (p.Arg251=)
c.438C>G (p.Arg146=)
c.339C>G (p.Arg113=)
c.960C>G (p.Arg320=)
c.645C>G (p.Arg215=)
 dbSNP
14g.24081296G=CA2123777307NRLc.654C= (p.Arg218=)
c.237C= (p.Arg79=)
c.753C= (p.Arg251=)
c.438C= (p.Arg146=)
c.339C= (p.Arg113=)
c.960C= (p.Arg320=)
c.645C= (p.Arg215=)
14g.24081296G>TCA485775461NRLc.654C>A (p.Arg218=)
c.237C>A (p.Arg79=)
c.753C>A (p.Arg251=)
c.438C>A (p.Arg146=)
c.339C>A (p.Arg113=)
c.960C>A (p.Arg320=)
c.645C>A (p.Arg215=)
 gnomAD v4
14g.24081297C>ACA389276415NRLc.653G>T (p.Arg218Leu)
c.236G>T (p.Arg79Leu)
c.752G>T (p.Arg251Leu)
c.437G>T (p.Arg146Leu)
c.338G>T (p.Arg113Leu)
c.959G>T (p.Arg320Leu)
c.644G>T (p.Arg215Leu)
 gnomAD v4
14g.24081297C=CA2123777310NRLc.653G= (p.Arg218=)
c.236G= (p.Arg79=)
c.752G= (p.Arg251=)
c.437G= (p.Arg146=)
c.338G= (p.Arg113=)
c.959G= (p.Arg320=)
c.644G= (p.Arg215=)
14g.24081297C>GCA389276417NRLc.653G>C (p.Arg218Pro)
c.236G>C (p.Arg79Pro)
c.752G>C (p.Arg251Pro)
c.437G>C (p.Arg146Pro)
c.338G>C (p.Arg113Pro)
c.959G>C (p.Arg320Pro)
c.644G>C (p.Arg215Pro)
 dbSNP gnomAD v4
14g.24081297C>TCA389276431NRLc.653G>A (p.Arg218His)
c.236G>A (p.Arg79His)
c.752G>A (p.Arg251His)
c.437G>A (p.Arg146His)
c.338G>A (p.Arg113His)
c.959G>A (p.Arg320His)
c.644G>A (p.Arg215His)
 gnomAD v4
14g.24081298G>ACA257868051NRLc.652C>T (p.Arg218Cys)
c.235C>T (p.Arg79Cys)
c.751C>T (p.Arg251Cys)
c.436C>T (p.Arg146Cys)
c.337C>T (p.Arg113Cys)
c.958C>T (p.Arg320Cys)
c.643C>T (p.Arg215Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081298G>CCA389276446NRLc.652C>G (p.Arg218Gly)
c.235C>G (p.Arg79Gly)
c.751C>G (p.Arg251Gly)
c.436C>G (p.Arg146Gly)
c.337C>G (p.Arg113Gly)
c.958C>G (p.Arg320Gly)
c.643C>G (p.Arg215Gly)
14g.24081298G=CA2123777315NRLc.652C= (p.Arg218=)
c.235C= (p.Arg79=)
c.751C= (p.Arg251=)
c.436C= (p.Arg146=)
c.337C= (p.Arg113=)
c.958C= (p.Arg320=)
c.643C= (p.Arg215=)
14g.24081298G>TCA389276448NRLc.652C>A (p.Arg218Ser)
c.235C>A (p.Arg79Ser)
c.751C>A (p.Arg251Ser)
c.436C>A (p.Arg146Ser)
c.337C>A (p.Arg113Ser)
c.958C>A (p.Arg320Ser)
c.643C>A (p.Arg215Ser)
 gnomAD v4
14g.24081299A>CCA485775463NRLc.651T>G (p.Ala217=)
c.234T>G (p.Ala78=)
c.750T>G (p.Ala250=)
c.435T>G (p.Ala145=)
c.336T>G (p.Ala112=)
c.957T>G (p.Ala319=)
c.642T>G (p.Ala214=)
14g.24081299A>GCA485775464NRLc.651T>C (p.Ala217=)
c.234T>C (p.Ala78=)
c.750T>C (p.Ala250=)
c.435T>C (p.Ala145=)
c.336T>C (p.Ala112=)
c.957T>C (p.Ala319=)
c.642T>C (p.Ala214=)
 gnomAD v4
14g.24081299A>TCA485775465NRLc.651T>A (p.Ala217=)
c.234T>A (p.Ala78=)
c.750T>A (p.Ala250=)
c.435T>A (p.Ala145=)
c.336T>A (p.Ala112=)
c.957T>A (p.Ala319=)
c.642T>A (p.Ala214=)
14g.24081300G>ACA389276451NRLc.650C>T (p.Ala217Val)
c.233C>T (p.Ala78Val)
c.749C>T (p.Ala250Val)
c.434C>T (p.Ala145Val)
c.335C>T (p.Ala112Val)
c.956C>T (p.Ala319Val)
c.641C>T (p.Ala214Val)
 gnomAD v4
14g.24081300G>CCA389276453NRLc.650C>G (p.Ala217Gly)
c.233C>G (p.Ala78Gly)
c.749C>G (p.Ala250Gly)
c.434C>G (p.Ala145Gly)
c.335C>G (p.Ala112Gly)
c.956C>G (p.Ala319Gly)
c.641C>G (p.Ala214Gly)
14g.24081300G>TCA389276477NRLc.650C>A (p.Ala217Asp)
c.233C>A (p.Ala78Asp)
c.749C>A (p.Ala250Asp)
c.434C>A (p.Ala145Asp)
c.335C>A (p.Ala112Asp)
c.956C>A (p.Ala319Asp)
c.641C>A (p.Ala214Asp)
 gnomAD v4
14g.24081301C>ACA389276483NRLc.649G>T (p.Ala217Ser)
c.232G>T (p.Ala78Ser)
c.748G>T (p.Ala250Ser)
c.433G>T (p.Ala145Ser)
c.334G>T (p.Ala112Ser)
c.955G>T (p.Ala319Ser)
c.640G>T (p.Ala214Ser)
 gnomAD v4
14g.24081301C=CA2123777319NRLc.649G= (p.Ala217=)
c.232G= (p.Ala78=)
c.748G= (p.Ala250=)
c.433G= (p.Ala145=)
c.334G= (p.Ala112=)
c.955G= (p.Ala319=)
c.640G= (p.Ala214=)
14g.24081301C>GCA389276488NRLc.649G>C (p.Ala217Pro)
c.232G>C (p.Ala78Pro)
c.748G>C (p.Ala250Pro)
c.433G>C (p.Ala145Pro)
c.334G>C (p.Ala112Pro)
c.955G>C (p.Ala319Pro)
c.640G>C (p.Ala214Pro)
14g.24081301C>TCA389276490NRLc.649G>A (p.Ala217Thr)
c.232G>A (p.Ala78Thr)
c.748G>A (p.Ala250Thr)
c.433G>A (p.Ala145Thr)
c.334G>A (p.Ala112Thr)
c.955G>A (p.Ala319Thr)
c.640G>A (p.Ala214Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.24081302C>ACA389276513NRLc.648G>T (p.Lys216Asn)
c.231G>T (p.Lys77Asn)
c.747G>T (p.Lys249Asn)
c.432G>T (p.Lys144Asn)
c.333G>T (p.Lys111Asn)
c.954G>T (p.Lys318Asn)
c.639G>T (p.Lys213Asn)
 gnomAD v4
14g.24081302C>GCA389276515NRLc.648G>C (p.Lys216Asn)
c.231G>C (p.Lys77Asn)
c.747G>C (p.Lys249Asn)
c.432G>C (p.Lys144Asn)
c.333G>C (p.Lys111Asn)
c.954G>C (p.Lys318Asn)
c.639G>C (p.Lys213Asn)
14g.24081302C>TCA485775466NRLc.648G>A (p.Lys216=)
c.231G>A (p.Lys77=)
c.747G>A (p.Lys249=)
c.432G>A (p.Lys144=)
c.333G>A (p.Lys111=)
c.954G>A (p.Lys318=)
c.639G>A (p.Lys213=)
14g.24081303T>ACA389276516NRLc.647A>T (p.Lys216Met)
c.230A>T (p.Lys77Met)
c.746A>T (p.Lys249Met)
c.431A>T (p.Lys144Met)
c.332A>T (p.Lys111Met)
c.953A>T (p.Lys318Met)
c.638A>T (p.Lys213Met)
 gnomAD v4
14g.24081303T>CCA389276518NRLc.647A>G (p.Lys216Arg)
c.230A>G (p.Lys77Arg)
c.746A>G (p.Lys249Arg)
c.431A>G (p.Lys144Arg)
c.332A>G (p.Lys111Arg)
c.953A>G (p.Lys318Arg)
c.638A>G (p.Lys213Arg)
 dbSNP gnomAD v4
14g.24081303T>GCA389276517NRLc.647A>C (p.Lys216Thr)
c.230A>C (p.Lys77Thr)
c.746A>C (p.Lys249Thr)
c.431A>C (p.Lys144Thr)
c.332A>C (p.Lys111Thr)
c.953A>C (p.Lys318Thr)
c.638A>C (p.Lys213Thr)
 dbSNP
14g.24081303T=CA2123777320NRLc.647A= (p.Lys216=)
c.230A= (p.Lys77=)
c.746A= (p.Lys249=)
c.431A= (p.Lys144=)
c.332A= (p.Lys111=)
c.953A= (p.Lys318=)
c.638A= (p.Lys213=)
14g.24081304T>ACA389276519NRLc.646A>T (p.Lys216Ter)
c.229A>T (p.Lys77Ter)
c.745A>T (p.Lys249Ter)
c.430A>T (p.Lys144Ter)
c.331A>T (p.Lys111Ter)
c.952A>T (p.Lys318Ter)
c.637A>T (p.Lys213Ter)
14g.24081304T>CCA389276522NRLc.646A>G (p.Lys216Glu)
c.229A>G (p.Lys77Glu)
c.745A>G (p.Lys249Glu)
c.430A>G (p.Lys144Glu)
c.331A>G (p.Lys111Glu)
c.952A>G (p.Lys318Glu)
c.637A>G (p.Lys213Glu)
 gnomAD v4
14g.24081304T>GCA389276520NRLc.646A>C (p.Lys216Gln)
c.229A>C (p.Lys77Gln)
c.745A>C (p.Lys249Gln)
c.430A>C (p.Lys144Gln)
c.331A>C (p.Lys111Gln)
c.952A>C (p.Lys318Gln)
c.637A>C (p.Lys213Gln)
14g.24081305G>ACA257868054NRLc.645C>T (p.Tyr215=)
c.228C>T (p.Tyr76=)
c.744C>T (p.Tyr248=)
c.429C>T (p.Tyr143=)
c.330C>T (p.Tyr110=)
c.951C>T (p.Tyr317=)
c.636C>T (p.Tyr212=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081305G>CCA389276523NRLc.645C>G (p.Tyr215Ter)
c.228C>G (p.Tyr76Ter)
c.744C>G (p.Tyr248Ter)
c.429C>G (p.Tyr143Ter)
c.330C>G (p.Tyr110Ter)
c.951C>G (p.Tyr317Ter)
c.636C>G (p.Tyr212Ter)
 dbSNP gnomAD v2 gnomAD v4
14g.24081305G=CA2123777324NRLc.645C= (p.Tyr215=)
c.228C= (p.Tyr76=)
c.744C= (p.Tyr248=)
c.429C= (p.Tyr143=)
c.330C= (p.Tyr110=)
c.951C= (p.Tyr317=)
c.636C= (p.Tyr212=)
14g.24081305G>TCA389276524NRLc.645C>A (p.Tyr215Ter)
c.228C>A (p.Tyr76Ter)
c.744C>A (p.Tyr248Ter)
c.429C>A (p.Tyr143Ter)
c.330C>A (p.Tyr110Ter)
c.951C>A (p.Tyr317Ter)
c.636C>A (p.Tyr212Ter)
 gnomAD v4
14g.24081306T>ACA389276525NRLc.644A>T (p.Tyr215Phe)
c.227A>T (p.Tyr76Phe)
c.743A>T (p.Tyr248Phe)
c.428A>T (p.Tyr143Phe)
c.329A>T (p.Tyr110Phe)
c.950A>T (p.Tyr317Phe)
c.635A>T (p.Tyr212Phe)
 gnomAD v4
14g.24081306T>CCA389276527NRLc.644A>G (p.Tyr215Cys)
c.227A>G (p.Tyr76Cys)
c.743A>G (p.Tyr248Cys)
c.428A>G (p.Tyr143Cys)
c.329A>G (p.Tyr110Cys)
c.950A>G (p.Tyr317Cys)
c.635A>G (p.Tyr212Cys)
 gnomAD v4
14g.24081306T>GCA389276526NRLc.644A>C (p.Tyr215Ser)
c.227A>C (p.Tyr76Ser)
c.743A>C (p.Tyr248Ser)
c.428A>C (p.Tyr143Ser)
c.329A>C (p.Tyr110Ser)
c.950A>C (p.Tyr317Ser)
c.635A>C (p.Tyr212Ser)
14g.24081307A>CCA389276532NRLc.643T>G (p.Tyr215Asp)
c.226T>G (p.Tyr76Asp)
c.742T>G (p.Tyr248Asp)
c.427T>G (p.Tyr143Asp)
c.328T>G (p.Tyr110Asp)
c.949T>G (p.Tyr317Asp)
c.634T>G (p.Tyr212Asp)
14g.24081307A>GCA389276552NRLc.643T>C (p.Tyr215His)
c.226T>C (p.Tyr76His)
c.742T>C (p.Tyr248His)
c.427T>C (p.Tyr143His)
c.328T>C (p.Tyr110His)
c.949T>C (p.Tyr317His)
c.634T>C (p.Tyr212His)
 gnomAD v4
14g.24081307A>TCA389276535NRLc.643T>A (p.Tyr215Asn)
c.226T>A (p.Tyr76Asn)
c.742T>A (p.Tyr248Asn)
c.427T>A (p.Tyr143Asn)
c.328T>A (p.Tyr110Asn)
c.949T>A (p.Tyr317Asn)
c.634T>A (p.Tyr212Asn)
14g.24081308G>ACA485775581NRLc.642C>T (p.Leu214=)
c.225C>T (p.Leu75=)
c.741C>T (p.Leu247=)
c.426C>T (p.Leu142=)
c.327C>T (p.Leu109=)
c.948C>T (p.Leu316=)
c.633C>T (p.Leu211=)
14g.24081308G>CCA485775584NRLc.642C>G (p.Leu214=)
c.225C>G (p.Leu75=)
c.741C>G (p.Leu247=)
c.426C>G (p.Leu142=)
c.327C>G (p.Leu109=)
c.948C>G (p.Leu316=)
c.633C>G (p.Leu211=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081308G=CA2123777331NRLc.642C= (p.Leu214=)
c.225C= (p.Leu75=)
c.741C= (p.Leu247=)
c.426C= (p.Leu142=)
c.327C= (p.Leu109=)
c.948C= (p.Leu316=)
c.633C= (p.Leu211=)
14g.24081308G>TCA485775585NRLc.642C>A (p.Leu214=)
c.225C>A (p.Leu75=)
c.741C>A (p.Leu247=)
c.426C>A (p.Leu142=)
c.327C>A (p.Leu109=)
c.948C>A (p.Leu316=)
c.633C>A (p.Leu211=)
14g.24081309A>CCA389276557NRLc.641T>G (p.Leu214Arg)
c.224T>G (p.Leu75Arg)
c.740T>G (p.Leu247Arg)
c.425T>G (p.Leu142Arg)
c.326T>G (p.Leu109Arg)
c.947T>G (p.Leu316Arg)
c.632T>G (p.Leu211Arg)
14g.24081309A>GCA389276559NRLc.641T>C (p.Leu214Pro)
c.224T>C (p.Leu75Pro)
c.740T>C (p.Leu247Pro)
c.425T>C (p.Leu142Pro)
c.326T>C (p.Leu109Pro)
c.947T>C (p.Leu316Pro)
c.632T>C (p.Leu211Pro)
 gnomAD v4
14g.24081309A>TCA389276558NRLc.641T>A (p.Leu214His)
c.224T>A (p.Leu75His)
c.740T>A (p.Leu247His)
c.425T>A (p.Leu142His)
c.326T>A (p.Leu109His)
c.947T>A (p.Leu316His)
c.632T>A (p.Leu211His)
14g.24081310G>ACA389276564NRLc.640C>T (p.Leu214Phe)
c.223C>T (p.Leu75Phe)
c.739C>T (p.Leu247Phe)
c.424C>T (p.Leu142Phe)
c.325C>T (p.Leu109Phe)
c.946C>T (p.Leu316Phe)
c.631C>T (p.Leu211Phe)
 gnomAD v4
14g.24081310G>CCA389276570NRLc.640C>G (p.Leu214Val)
c.223C>G (p.Leu75Val)
c.739C>G (p.Leu247Val)
c.424C>G (p.Leu142Val)
c.325C>G (p.Leu109Val)
c.946C>G (p.Leu316Val)
c.631C>G (p.Leu211Val)
14g.24081310G=CA2123777335NRLc.640C= (p.Leu214=)
c.223C= (p.Leu75=)
c.739C= (p.Leu247=)
c.424C= (p.Leu142=)
c.325C= (p.Leu109=)
c.946C= (p.Leu316=)
c.631C= (p.Leu211=)
14g.24081310G>TCA389276567NRLc.640C>A (p.Leu214Ile)
c.223C>A (p.Leu75Ile)
c.739C>A (p.Leu247Ile)
c.424C>A (p.Leu142Ile)
c.325C>A (p.Leu109Ile)
c.946C>A (p.Leu316Ile)
c.631C>A (p.Leu211Ile)
 dbSNP gnomAD v2 gnomAD v4
14g.24081311A=CA2123777339NRLc.639T= (p.Asp213=)
c.222T= (p.Asp74=)
c.738T= (p.Asp246=)
c.423T= (p.Asp141=)
c.324T= (p.Asp108=)
c.945T= (p.Asp315=)
c.630T= (p.Asp210=)
14g.24081311A>CCA389276589NRLc.639T>G (p.Asp213Glu)
c.222T>G (p.Asp74Glu)
c.738T>G (p.Asp246Glu)
c.423T>G (p.Asp141Glu)
c.324T>G (p.Asp108Glu)
c.945T>G (p.Asp315Glu)
c.630T>G (p.Asp210Glu)
14g.24081311A>GCA485775592NRLc.639T>C (p.Asp213=)
c.222T>C (p.Asp74=)
c.738T>C (p.Asp246=)
c.423T>C (p.Asp141=)
c.324T>C (p.Asp108=)
c.945T>C (p.Asp315=)
c.630T>C (p.Asp210=)
 dbSNP gnomAD v4
14g.24081311A>TCA389276593NRLc.639T>A (p.Asp213Glu)
c.222T>A (p.Asp74Glu)
c.738T>A (p.Asp246Glu)
c.423T>A (p.Asp141Glu)
c.324T>A (p.Asp108Glu)
c.945T>A (p.Asp315Glu)
c.630T>A (p.Asp210Glu)
14g.24081312T>ACA389276597NRLc.638A>T (p.Asp213Val)
c.221A>T (p.Asp74Val)
c.737A>T (p.Asp246Val)
c.422A>T (p.Asp141Val)
c.323A>T (p.Asp108Val)
c.944A>T (p.Asp315Val)
c.629A>T (p.Asp210Val)
14g.24081312T>CCA389276602NRLc.638A>G (p.Asp213Gly)
c.221A>G (p.Asp74Gly)
c.737A>G (p.Asp246Gly)
c.422A>G (p.Asp141Gly)
c.323A>G (p.Asp108Gly)
c.944A>G (p.Asp315Gly)
c.629A>G (p.Asp210Gly)
 dbSNP gnomAD v3 gnomAD v4
14g.24081312T>GCA389276607NRLc.638A>C (p.Asp213Ala)
c.221A>C (p.Asp74Ala)
c.737A>C (p.Asp246Ala)
c.422A>C (p.Asp141Ala)
c.323A>C (p.Asp108Ala)
c.944A>C (p.Asp315Ala)
c.629A>C (p.Asp210Ala)
14g.24081312T=CA2123777343NRLc.638A= (p.Asp213=)
c.221A= (p.Asp74=)
c.737A= (p.Asp246=)
c.422A= (p.Asp141=)
c.323A= (p.Asp108=)
c.944A= (p.Asp315=)
c.629A= (p.Asp210=)
14g.24081313C>ACA389276611NRLc.637G>T (p.Asp213Tyr)
c.220G>T (p.Asp74Tyr)
c.736G>T (p.Asp246Tyr)
c.421G>T (p.Asp141Tyr)
c.322G>T (p.Asp108Tyr)
c.943G>T (p.Asp315Tyr)
c.628G>T (p.Asp210Tyr)
 gnomAD v4
14g.24081313C>GCA389276615NRLc.637G>C (p.Asp213His)
c.220G>C (p.Asp74His)
c.736G>C (p.Asp246His)
c.421G>C (p.Asp141His)
c.322G>C (p.Asp108His)
c.943G>C (p.Asp315His)
c.628G>C (p.Asp210His)
14g.24081313C>TCA389276617NRLc.637G>A (p.Asp213Asn)
c.220G>A (p.Asp74Asn)
c.736G>A (p.Asp246Asn)
c.421G>A (p.Asp141Asn)
c.322G>A (p.Asp108Asn)
c.943G>A (p.Asp315Asn)
c.628G>A (p.Asp210Asn)
 gnomAD v4
14g.24081314G>ACA485775600NRLc.636C>T (p.Arg212=)
c.219C>T (p.Arg73=)
c.735C>T (p.Arg245=)
c.420C>T (p.Arg140=)
c.321C>T (p.Arg107=)
c.942C>T (p.Arg314=)
c.627C>T (p.Arg209=)
 gnomAD v4
14g.24081314G>CCA485775598NRLc.636C>G (p.Arg212=)
c.219C>G (p.Arg73=)
c.735C>G (p.Arg245=)
c.420C>G (p.Arg140=)
c.321C>G (p.Arg107=)
c.942C>G (p.Arg314=)
c.627C>G (p.Arg209=)
 gnomAD v4
14g.24081314G>TCA485775599NRLc.636C>A (p.Arg212=)
c.219C>A (p.Arg73=)
c.735C>A (p.Arg245=)
c.420C>A (p.Arg140=)
c.321C>A (p.Arg107=)
c.942C>A (p.Arg314=)
c.627C>A (p.Arg209=)
 gnomAD v4
14g.24081315C>ACA389276620NRLc.635G>T (p.Arg212Leu)
c.218G>T (p.Arg73Leu)
c.734G>T (p.Arg245Leu)
c.419G>T (p.Arg140Leu)
c.320G>T (p.Arg107Leu)
c.941G>T (p.Arg314Leu)
c.626G>T (p.Arg209Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081315C=CA2123777351NRLc.635G= (p.Arg212=)
c.218G= (p.Arg73=)
c.734G= (p.Arg245=)
c.419G= (p.Arg140=)
c.320G= (p.Arg107=)
c.941G= (p.Arg314=)
c.626G= (p.Arg209=)
14g.24081315C>GCA389276624NRLc.635G>C (p.Arg212Pro)
c.218G>C (p.Arg73Pro)
c.734G>C (p.Arg245Pro)
c.419G>C (p.Arg140Pro)
c.320G>C (p.Arg107Pro)
c.941G>C (p.Arg314Pro)
c.626G>C (p.Arg209Pro)
14g.24081315C>TCA389276628NRLc.635G>A (p.Arg212His)
c.218G>A (p.Arg73His)
c.734G>A (p.Arg245His)
c.419G>A (p.Arg140His)
c.320G>A (p.Arg107His)
c.941G>A (p.Arg314His)
c.626G>A (p.Arg209His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081316G>ACA389276638NRLc.634C>T (p.Arg212Cys)
c.217C>T (p.Arg73Cys)
c.733C>T (p.Arg245Cys)
c.418C>T (p.Arg140Cys)
c.319C>T (p.Arg107Cys)
c.940C>T (p.Arg314Cys)
c.625C>T (p.Arg209Cys)
 gnomAD v4
14g.24081316G>CCA389276636NRLc.634C>G (p.Arg212Gly)
c.217C>G (p.Arg73Gly)
c.733C>G (p.Arg245Gly)
c.418C>G (p.Arg140Gly)
c.319C>G (p.Arg107Gly)
c.940C>G (p.Arg314Gly)
c.625C>G (p.Arg209Gly)
14g.24081316G>TCA389276637NRLc.634C>A (p.Arg212Ser)
c.217C>A (p.Arg73Ser)
c.733C>A (p.Arg245Ser)
c.418C>A (p.Arg140Ser)
c.319C>A (p.Arg107Ser)
c.940C>A (p.Arg314Ser)
c.625C>A (p.Arg209Ser)
 gnomAD v4
14g.24081317C>ACA389276639NRLc.633G>T (p.Glu211Asp)
c.216G>T (p.Glu72Asp)
c.732G>T (p.Glu244Asp)
c.417G>T (p.Glu139Asp)
c.318G>T (p.Glu106Asp)
c.939G>T (p.Glu313Asp)
c.624G>T (p.Glu208Asp)
 gnomAD v4
14g.24081317C>GCA389276640NRLc.633G>C (p.Glu211Asp)
c.216G>C (p.Glu72Asp)
c.732G>C (p.Glu244Asp)
c.417G>C (p.Glu139Asp)
c.318G>C (p.Glu106Asp)
c.939G>C (p.Glu313Asp)
c.624G>C (p.Glu208Asp)
 gnomAD v4
14g.24081317C>TCA485775605NRLc.633G>A (p.Glu211=)
c.216G>A (p.Glu72=)
c.732G>A (p.Glu244=)
c.417G>A (p.Glu139=)
c.318G>A (p.Glu106=)
c.939G>A (p.Glu313=)
c.624G>A (p.Glu208=)
14g.24081318T>ACA389276641NRLc.632A>T (p.Glu211Val)
c.215A>T (p.Glu72Val)
c.731A>T (p.Glu244Val)
c.416A>T (p.Glu139Val)
c.317A>T (p.Glu106Val)
c.938A>T (p.Glu313Val)
c.623A>T (p.Glu208Val)
14g.24081318T>CCA389276644NRLc.632A>G (p.Glu211Gly)
c.215A>G (p.Glu72Gly)
c.731A>G (p.Glu244Gly)
c.416A>G (p.Glu139Gly)
c.317A>G (p.Glu106Gly)
c.938A>G (p.Glu313Gly)
c.623A>G (p.Glu208Gly)
 gnomAD v4
14g.24081318T>GCA389276653NRLc.632A>C (p.Glu211Ala)
c.215A>C (p.Glu72Ala)
c.731A>C (p.Glu244Ala)
c.416A>C (p.Glu139Ala)
c.317A>C (p.Glu106Ala)
c.938A>C (p.Glu313Ala)
c.623A>C (p.Glu208Ala)
14g.24081319C>ACA389276659NRLc.631G>T (p.Glu211Ter)
c.214G>T (p.Glu72Ter)
c.730G>T (p.Glu244Ter)
c.415G>T (p.Glu139Ter)
c.316G>T (p.Glu106Ter)
c.937G>T (p.Glu313Ter)
c.622G>T (p.Glu208Ter)
 gnomAD v4
14g.24081319C>GCA389276664NRLc.631G>C (p.Glu211Gln)
c.214G>C (p.Glu72Gln)
c.730G>C (p.Glu244Gln)
c.415G>C (p.Glu139Gln)
c.316G>C (p.Glu106Gln)
c.937G>C (p.Glu313Gln)
c.622G>C (p.Glu208Gln)
14g.24081319C>TCA389276667NRLc.631G>A (p.Glu211Lys)
c.214G>A (p.Glu72Lys)
c.730G>A (p.Glu244Lys)
c.415G>A (p.Glu139Lys)
c.316G>A (p.Glu106Lys)
c.937G>A (p.Glu313Lys)
c.622G>A (p.Glu208Lys)
 gnomAD v4
14g.24081321delCA2624297988NRLc.631del (p.Glu211SerfsTer12)
c.214del (p.Glu72SerfsTer12)
c.730del (p.Glu244SerfsTer12)
c.415del (p.Glu139SerfsTer12)
c.316del (p.Glu106SerfsTer12)
c.937del (p.Glu313SerfsTer12)
c.622del (p.Glu208SerfsTer12)
 gnomAD v4
14g.24081320C>ACA485775615NRLc.630G>T (p.Arg210=)
c.213G>T (p.Arg71=)
c.729G>T (p.Arg243=)
c.414G>T (p.Arg138=)
c.315G>T (p.Arg105=)
c.936G>T (p.Arg312=)
c.621G>T (p.Arg207=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081320C=CA2123777354NRLc.630G= (p.Arg210=)
c.213G= (p.Arg71=)
c.729G= (p.Arg243=)
c.414G= (p.Arg138=)
c.315G= (p.Arg105=)
c.936G= (p.Arg312=)
c.621G= (p.Arg207=)
14g.24081320C>GCA485775617NRLc.630G>C (p.Arg210=)
c.213G>C (p.Arg71=)
c.729G>C (p.Arg243=)
c.414G>C (p.Arg138=)
c.315G>C (p.Arg105=)
c.936G>C (p.Arg312=)
c.621G>C (p.Arg207=)
14g.24081320C>TCA485775616NRLc.630G>A (p.Arg210=)
c.213G>A (p.Arg71=)
c.729G>A (p.Arg243=)
c.414G>A (p.Arg138=)
c.315G>A (p.Arg105=)
c.936G>A (p.Arg312=)
c.621G>A (p.Arg207=)
 gnomAD v4
14g.24081321C>ACA389276672NRLc.629G>T (p.Arg210Leu)
c.212G>T (p.Arg71Leu)
c.728G>T (p.Arg243Leu)
c.413G>T (p.Arg138Leu)
c.314G>T (p.Arg105Leu)
c.935G>T (p.Arg312Leu)
c.620G>T (p.Arg207Leu)
 gnomAD v4
14g.24081321C>GCA389276699NRLc.629G>C (p.Arg210Pro)
c.212G>C (p.Arg71Pro)
c.728G>C (p.Arg243Pro)
c.413G>C (p.Arg138Pro)
c.314G>C (p.Arg105Pro)
c.935G>C (p.Arg312Pro)
c.620G>C (p.Arg207Pro)
 gnomAD v4
14g.24081321C>TCA389276705NRLc.629G>A (p.Arg210Gln)
c.212G>A (p.Arg71Gln)
c.728G>A (p.Arg243Gln)
c.413G>A (p.Arg138Gln)
c.314G>A (p.Arg105Gln)
c.935G>A (p.Arg312Gln)
c.620G>A (p.Arg207Gln)
 gnomAD v4
14g.24081322G>ACA389276714NRLc.628C>T (p.Arg210Trp)
c.211C>T (p.Arg71Trp)
c.727C>T (p.Arg243Trp)
c.412C>T (p.Arg138Trp)
c.313C>T (p.Arg105Trp)
c.934C>T (p.Arg312Trp)
c.619C>T (p.Arg207Trp)
 dbSNP gnomAD v4
14g.24081322G>CCA389276716NRLc.628C>G (p.Arg210Gly)
c.211C>G (p.Arg71Gly)
c.727C>G (p.Arg243Gly)
c.412C>G (p.Arg138Gly)
c.313C>G (p.Arg105Gly)
c.934C>G (p.Arg312Gly)
c.619C>G (p.Arg207Gly)
 ClinVar dbSNP gnomAD v4
14g.24081322G=CA2123777358NRLc.628C= (p.Arg210=)
c.211C= (p.Arg71=)
c.727C= (p.Arg243=)
c.412C= (p.Arg138=)
c.313C= (p.Arg105=)
c.934C= (p.Arg312=)
c.619C= (p.Arg207=)
14g.24081322G>TCA485775620NRLc.628C>A (p.Arg210=)
c.211C>A (p.Arg71=)
c.727C>A (p.Arg243=)
c.412C>A (p.Arg138=)
c.313C>A (p.Arg105=)
c.934C>A (p.Arg312=)
c.619C>A (p.Arg207=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081322_24081363delCA2624298000NRLc.587_628del (p.Ala196_Arg210delinsGly)
c.170_211del (p.Ala57_Arg71delinsGly)
c.686_727del (p.Ala229_Arg243delinsGly)
c.371_412del (p.Ala124_Arg138delinsGly)
c.272_313del (p.Ala91_Arg105delinsGly)
c.893_934del (p.Ala298_Arg312delinsGly)
c.578_619del (p.Ala193_Arg207delinsGly)
 gnomAD v4
14g.24081323G>ACA485775622NRLc.627C>T (p.Ala209=)
c.210C>T (p.Ala70=)
c.726C>T (p.Ala242=)
c.411C>T (p.Ala137=)
c.312C>T (p.Ala104=)
c.933C>T (p.Ala311=)
c.618C>T (p.Ala206=)
 gnomAD v4
14g.24081323G>CCA485775625NRLc.627C>G (p.Ala209=)
c.210C>G (p.Ala70=)
c.726C>G (p.Ala242=)
c.411C>G (p.Ala137=)
c.312C>G (p.Ala104=)
c.933C>G (p.Ala311=)
c.618C>G (p.Ala206=)
 dbSNP gnomAD v3 gnomAD v4
14g.24081323G=CA2123777369NRLc.627C= (p.Ala209=)
c.210C= (p.Ala70=)
c.726C= (p.Ala242=)
c.411C= (p.Ala137=)
c.312C= (p.Ala104=)
c.933C= (p.Ala311=)
c.618C= (p.Ala206=)
14g.24081323G>TCA485775627NRLc.627C>A (p.Ala209=)
c.210C>A (p.Ala70=)
c.726C>A (p.Ala242=)
c.411C>A (p.Ala137=)
c.312C>A (p.Ala104=)
c.933C>A (p.Ala311=)
c.618C>A (p.Ala206=)
14g.24081335_24081376dupCA10581692NRLc.586_627dup (p.Ala209_Arg210insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
c.169_210dup (p.Ala70_Arg71insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
c.685_726dup (p.Ala242_Arg243insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
c.370_411dup (p.Ala137_Arg138insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
c.271_312dup (p.Ala104_Arg105insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
c.892_933dup (p.Ala311_Arg312insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
c.577_618dup (p.Ala206_Arg207insAlaGlnLeuAspAlaLeuArgAlaGluValAlaArgLeuAla)
 ClinVar dbSNP
14g.24081335_24081376delCA2624298015NRLc.586_627del (p.Ala196_Ala209del)
c.169_210del (p.Ala57_Ala70del)
c.685_726del (p.Ala229_Ala242del)
c.370_411del (p.Ala124_Ala137del)
c.271_312del (p.Ala91_Ala104del)
c.892_933del (p.Ala298_Ala311del)
c.577_618del (p.Ala193_Ala206del)
 gnomAD v4
14g.24081324G>ACA389276732NRLc.626C>T (p.Ala209Val)
c.209C>T (p.Ala70Val)
c.725C>T (p.Ala242Val)
c.410C>T (p.Ala137Val)
c.311C>T (p.Ala104Val)
c.932C>T (p.Ala311Val)
c.617C>T (p.Ala206Val)
 gnomAD v4
14g.24081324G>CCA389276734NRLc.626C>G (p.Ala209Gly)
c.209C>G (p.Ala70Gly)
c.725C>G (p.Ala242Gly)
c.410C>G (p.Ala137Gly)
c.311C>G (p.Ala104Gly)
c.932C>G (p.Ala311Gly)
c.617C>G (p.Ala206Gly)
14g.24081324G>TCA389276735NRLc.626C>A (p.Ala209Asp)
c.209C>A (p.Ala70Asp)
c.725C>A (p.Ala242Asp)
c.410C>A (p.Ala137Asp)
c.311C>A (p.Ala104Asp)
c.932C>A (p.Ala311Asp)
c.617C>A (p.Ala206Asp)
 gnomAD v4
14g.24081325C>ACA389276740NRLc.625G>T (p.Ala209Ser)
c.208G>T (p.Ala70Ser)
c.724G>T (p.Ala242Ser)
c.409G>T (p.Ala137Ser)
c.310G>T (p.Ala104Ser)
c.931G>T (p.Ala311Ser)
c.616G>T (p.Ala206Ser)
 gnomAD v4
14g.24081325C>GCA389276744NRLc.625G>C (p.Ala209Pro)
c.208G>C (p.Ala70Pro)
c.724G>C (p.Ala242Pro)
c.409G>C (p.Ala137Pro)
c.310G>C (p.Ala104Pro)
c.931G>C (p.Ala311Pro)
c.616G>C (p.Ala206Pro)
14g.24081325C>TCA389276761NRLc.625G>A (p.Ala209Thr)
c.208G>A (p.Ala70Thr)
c.724G>A (p.Ala242Thr)
c.409G>A (p.Ala137Thr)
c.310G>A (p.Ala104Thr)
c.931G>A (p.Ala311Thr)
c.616G>A (p.Ala206Thr)
 gnomAD v4
14g.24081326C>ACA485775634NRLc.624G>T (p.Leu208=)
c.207G>T (p.Leu69=)
c.723G>T (p.Leu241=)
c.408G>T (p.Leu136=)
c.309G>T (p.Leu103=)
c.930G>T (p.Leu310=)
c.615G>T (p.Leu205=)
 gnomAD v4
14g.24081326C>GCA485775635NRLc.624G>C (p.Leu208=)
c.207G>C (p.Leu69=)
c.723G>C (p.Leu241=)
c.408G>C (p.Leu136=)
c.309G>C (p.Leu103=)
c.930G>C (p.Leu310=)
c.615G>C (p.Leu205=)
14g.24081326C>TCA485775636NRLc.624G>A (p.Leu208=)
c.207G>A (p.Leu69=)
c.723G>A (p.Leu241=)
c.408G>A (p.Leu136=)
c.309G>A (p.Leu103=)
c.930G>A (p.Leu310=)
c.615G>A (p.Leu205=)
 gnomAD v4
14g.24081327A>CCA389276782NRLc.623T>G (p.Leu208Arg)
c.206T>G (p.Leu69Arg)
c.722T>G (p.Leu241Arg)
c.407T>G (p.Leu136Arg)
c.308T>G (p.Leu103Arg)
c.929T>G (p.Leu310Arg)
c.614T>G (p.Leu205Arg)
14g.24081327A>GCA389276784NRLc.623T>C (p.Leu208Pro)
c.206T>C (p.Leu69Pro)
c.722T>C (p.Leu241Pro)
c.407T>C (p.Leu136Pro)
c.308T>C (p.Leu103Pro)
c.929T>C (p.Leu310Pro)
c.614T>C (p.Leu205Pro)
 gnomAD v4
14g.24081327A>TCA389276800NRLc.623T>A (p.Leu208Gln)
c.206T>A (p.Leu69Gln)
c.722T>A (p.Leu241Gln)
c.407T>A (p.Leu136Gln)
c.308T>A (p.Leu103Gln)
c.929T>A (p.Leu310Gln)
c.614T>A (p.Leu205Gln)
14g.24081328G>ACA485775639NRLc.622C>T (p.Leu208=)
c.205C>T (p.Leu69=)
c.721C>T (p.Leu241=)
c.406C>T (p.Leu136=)
c.307C>T (p.Leu103=)
c.928C>T (p.Leu310=)
c.613C>T (p.Leu205=)
 gnomAD v4
14g.24081328G>CCA389276814NRLc.622C>G (p.Leu208Val)
c.205C>G (p.Leu69Val)
c.721C>G (p.Leu241Val)
c.406C>G (p.Leu136Val)
c.307C>G (p.Leu103Val)
c.928C>G (p.Leu310Val)
c.613C>G (p.Leu205Val)
14g.24081328G>TCA389276835NRLc.622C>A (p.Leu208Met)
c.205C>A (p.Leu69Met)
c.721C>A (p.Leu241Met)
c.406C>A (p.Leu136Met)
c.307C>A (p.Leu103Met)
c.928C>A (p.Leu310Met)
c.613C>A (p.Leu205Met)
 gnomAD v4
14g.24081329G>ACA485775640NRLc.621C>T (p.Arg207=)
c.204C>T (p.Arg68=)
c.720C>T (p.Arg240=)
c.405C>T (p.Arg135=)
c.306C>T (p.Arg102=)
c.927C>T (p.Arg309=)
c.612C>T (p.Arg204=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081329G>CCA485775641NRLc.621C>G (p.Arg207=)
c.204C>G (p.Arg68=)
c.720C>G (p.Arg240=)
c.405C>G (p.Arg135=)
c.306C>G (p.Arg102=)
c.927C>G (p.Arg309=)
c.612C>G (p.Arg204=)
14g.24081329G=CA2123777374NRLc.621C= (p.Arg207=)
c.204C= (p.Arg68=)
c.720C= (p.Arg240=)
c.405C= (p.Arg135=)
c.306C= (p.Arg102=)
c.927C= (p.Arg309=)
c.612C= (p.Arg204=)
14g.24081329G>TCA485775642NRLc.621C>A (p.Arg207=)
c.204C>A (p.Arg68=)
c.720C>A (p.Arg240=)
c.405C>A (p.Arg135=)
c.306C>A (p.Arg102=)
c.927C>A (p.Arg309=)
c.612C>A (p.Arg204=)
14g.24081330C>ACA389276857NRLc.620G>T (p.Arg207Leu)
c.203G>T (p.Arg68Leu)
c.719G>T (p.Arg240Leu)
c.404G>T (p.Arg135Leu)
c.305G>T (p.Arg102Leu)
c.926G>T (p.Arg309Leu)
c.611G>T (p.Arg204Leu)
 gnomAD v4
14g.24081330C=CA2123777377NRLc.620G= (p.Arg207=)
c.203G= (p.Arg68=)
c.719G= (p.Arg240=)
c.404G= (p.Arg135=)
c.305G= (p.Arg102=)
c.926G= (p.Arg309=)
c.611G= (p.Arg204=)
14g.24081330C>GCA389276862NRLc.620G>C (p.Arg207Pro)
c.203G>C (p.Arg68Pro)
c.719G>C (p.Arg240Pro)
c.404G>C (p.Arg135Pro)
c.305G>C (p.Arg102Pro)
c.926G>C (p.Arg309Pro)
c.611G>C (p.Arg204Pro)
14g.24081330C>TCA7122818NRLc.620G>A (p.Arg207His)
c.203G>A (p.Arg68His)
c.719G>A (p.Arg240His)
c.404G>A (p.Arg135His)
c.305G>A (p.Arg102His)
c.926G>A (p.Arg309His)
c.611G>A (p.Arg204His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.24081331G>ACA389276868NRLc.619C>T (p.Arg207Cys)
c.202C>T (p.Arg68Cys)
c.718C>T (p.Arg240Cys)
c.403C>T (p.Arg135Cys)
c.304C>T (p.Arg102Cys)
c.925C>T (p.Arg309Cys)
c.610C>T (p.Arg204Cys)
 ClinVar dbSNP gnomAD v4
14g.24081331G>CCA389276872NRLc.619C>G (p.Arg207Gly)
c.202C>G (p.Arg68Gly)
c.718C>G (p.Arg240Gly)
c.403C>G (p.Arg135Gly)
c.304C>G (p.Arg102Gly)
c.925C>G (p.Arg309Gly)
c.610C>G (p.Arg204Gly)
 ClinVar
14g.24081331G=CA2123777386NRLc.619C= (p.Arg207=)
c.202C= (p.Arg68=)
c.718C= (p.Arg240=)
c.403C= (p.Arg135=)
c.304C= (p.Arg102=)
c.925C= (p.Arg309=)
c.610C= (p.Arg204=)
14g.24081331G>TCA389276873NRLc.619C>A (p.Arg207Ser)
c.202C>A (p.Arg68Ser)
c.718C>A (p.Arg240Ser)
c.403C>A (p.Arg135Ser)
c.304C>A (p.Arg102Ser)
c.925C>A (p.Arg309Ser)
c.610C>A (p.Arg204Ser)
 gnomAD v4
14g.24081332G>ACA485775646NRLc.618C>T (p.Ala206=)
c.201C>T (p.Ala67=)
c.717C>T (p.Ala239=)
c.402C>T (p.Ala134=)
c.303C>T (p.Ala101=)
c.924C>T (p.Ala308=)
c.609C>T (p.Ala203=)
 gnomAD v4
14g.24081332G>CCA485775647NRLc.618C>G (p.Ala206=)
c.201C>G (p.Ala67=)
c.717C>G (p.Ala239=)
c.402C>G (p.Ala134=)
c.303C>G (p.Ala101=)
c.924C>G (p.Ala308=)
c.609C>G (p.Ala203=)
14g.24081332G>TCA485775648NRLc.618C>A (p.Ala206=)
c.201C>A (p.Ala67=)
c.717C>A (p.Ala239=)
c.402C>A (p.Ala134=)
c.303C>A (p.Ala101=)
c.924C>A (p.Ala308=)
c.609C>A (p.Ala203=)
 gnomAD v4
14g.24081333G>ACA389276875NRLc.617C>T (p.Ala206Val)
c.200C>T (p.Ala67Val)
c.716C>T (p.Ala239Val)
c.401C>T (p.Ala134Val)
c.302C>T (p.Ala101Val)
c.923C>T (p.Ala308Val)
c.608C>T (p.Ala203Val)
 gnomAD v4
14g.24081333G>CCA389276877NRLc.617C>G (p.Ala206Gly)
c.200C>G (p.Ala67Gly)
c.716C>G (p.Ala239Gly)
c.401C>G (p.Ala134Gly)
c.302C>G (p.Ala101Gly)
c.923C>G (p.Ala308Gly)
c.608C>G (p.Ala203Gly)
 gnomAD v4
14g.24081333G>TCA389276878NRLc.617C>A (p.Ala206Asp)
c.200C>A (p.Ala67Asp)
c.716C>A (p.Ala239Asp)
c.401C>A (p.Ala134Asp)
c.302C>A (p.Ala101Asp)
c.923C>A (p.Ala308Asp)
c.608C>A (p.Ala203Asp)
 ClinVar gnomAD v4
14g.24081334C>ACA389276879NRLc.616G>T (p.Ala206Ser)
c.199G>T (p.Ala67Ser)
c.715G>T (p.Ala239Ser)
c.400G>T (p.Ala134Ser)
c.301G>T (p.Ala101Ser)
c.922G>T (p.Ala308Ser)
c.607G>T (p.Ala203Ser)
 gnomAD v4 COSMIC
14g.24081334C=CA2123777394NRLc.616G= (p.Ala206=)
c.199G= (p.Ala67=)
c.715G= (p.Ala239=)
c.400G= (p.Ala134=)
c.301G= (p.Ala101=)
c.922G= (p.Ala308=)
c.607G= (p.Ala203=)
14g.24081334C>GCA389276880NRLc.616G>C (p.Ala206Pro)
c.199G>C (p.Ala67Pro)
c.715G>C (p.Ala239Pro)
c.400G>C (p.Ala134Pro)
c.301G>C (p.Ala101Pro)
c.922G>C (p.Ala308Pro)
c.607G>C (p.Ala203Pro)
 gnomAD v4
14g.24081334C>TCA389276882NRLc.616G>A (p.Ala206Thr)
c.199G>A (p.Ala67Thr)
c.715G>A (p.Ala239Thr)
c.400G>A (p.Ala134Thr)
c.301G>A (p.Ala101Thr)
c.922G>A (p.Ala308Thr)
c.607G>A (p.Ala203Thr)
 ClinVar dbSNP gnomAD v4
14g.24081335C>ACA485775653NRLc.615G>T (p.Val205=)
c.198G>T (p.Val66=)
c.714G>T (p.Val238=)
c.399G>T (p.Val133=)
c.300G>T (p.Val100=)
c.921G>T (p.Val307=)
c.606G>T (p.Val202=)
 gnomAD v4
14g.24081335C=CA2123777401NRLc.615G= (p.Val205=)
c.198G= (p.Val66=)
c.714G= (p.Val238=)
c.399G= (p.Val133=)
c.300G= (p.Val100=)
c.921G= (p.Val307=)
c.606G= (p.Val202=)
14g.24081335C>GCA485775654NRLc.615G>C (p.Val205=)
c.198G>C (p.Val66=)
c.714G>C (p.Val238=)
c.399G>C (p.Val133=)
c.300G>C (p.Val100=)
c.921G>C (p.Val307=)
c.606G>C (p.Val202=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081335C>TCA485775655NRLc.615G>A (p.Val205=)
c.198G>A (p.Val66=)
c.714G>A (p.Val238=)
c.399G>A (p.Val133=)
c.300G>A (p.Val100=)
c.921G>A (p.Val307=)
c.606G>A (p.Val202=)
 gnomAD v4
14g.24081336A=CA2123777406NRLc.614T= (p.Val205=)
c.197T= (p.Val66=)
c.713T= (p.Val238=)
c.398T= (p.Val133=)
c.299T= (p.Val100=)
c.920T= (p.Val307=)
c.605T= (p.Val202=)
14g.24081336A>CCA389276897NRLc.614T>G (p.Val205Gly)
c.197T>G (p.Val66Gly)
c.713T>G (p.Val238Gly)
c.398T>G (p.Val133Gly)
c.299T>G (p.Val100Gly)
c.920T>G (p.Val307Gly)
c.605T>G (p.Val202Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081336A>GCA389276889NRLc.614T>C (p.Val205Ala)
c.197T>C (p.Val66Ala)
c.713T>C (p.Val238Ala)
c.398T>C (p.Val133Ala)
c.299T>C (p.Val100Ala)
c.920T>C (p.Val307Ala)
c.605T>C (p.Val202Ala)
 gnomAD v4
14g.24081336A>TCA389276886NRLc.614T>A (p.Val205Glu)
c.197T>A (p.Val66Glu)
c.713T>A (p.Val238Glu)
c.398T>A (p.Val133Glu)
c.299T>A (p.Val100Glu)
c.920T>A (p.Val307Glu)
c.605T>A (p.Val202Glu)
14g.24081337C>ACA389276903NRLc.613G>T (p.Val205Leu)
c.196G>T (p.Val66Leu)
c.712G>T (p.Val238Leu)
c.397G>T (p.Val133Leu)
c.298G>T (p.Val100Leu)
c.919G>T (p.Val307Leu)
c.604G>T (p.Val202Leu)
 gnomAD v4
14g.24081337C=CA2123777412NRLc.613G= (p.Val205=)
c.196G= (p.Val66=)
c.712G= (p.Val238=)
c.397G= (p.Val133=)
c.298G= (p.Val100=)
c.919G= (p.Val307=)
c.604G= (p.Val202=)
14g.24081337C>GCA389276911NRLc.613G>C (p.Val205Leu)
c.196G>C (p.Val66Leu)
c.712G>C (p.Val238Leu)
c.397G>C (p.Val133Leu)
c.298G>C (p.Val100Leu)
c.919G>C (p.Val307Leu)
c.604G>C (p.Val202Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081337C>TCA389276907NRLc.613G>A (p.Val205Met)
c.196G>A (p.Val66Met)
c.712G>A (p.Val238Met)
c.397G>A (p.Val133Met)
c.298G>A (p.Val100Met)
c.919G>A (p.Val307Met)
c.604G>A (p.Val202Met)
 gnomAD v4
14g.24081338C>ACA389276913NRLc.612G>T (p.Glu204Asp)
c.195G>T (p.Glu65Asp)
c.711G>T (p.Glu237Asp)
c.396G>T (p.Glu132Asp)
c.297G>T (p.Glu99Asp)
c.918G>T (p.Glu306Asp)
c.603G>T (p.Glu201Asp)
 gnomAD v4
14g.24081338C=CA2123777416NRLc.612G= (p.Glu204=)
c.195G= (p.Glu65=)
c.711G= (p.Glu237=)
c.396G= (p.Glu132=)
c.297G= (p.Glu99=)
c.918G= (p.Glu306=)
c.603G= (p.Glu201=)
14g.24081338C>GCA389276917NRLc.612G>C (p.Glu204Asp)
c.195G>C (p.Glu65Asp)
c.711G>C (p.Glu237Asp)
c.396G>C (p.Glu132Asp)
c.297G>C (p.Glu99Asp)
c.918G>C (p.Glu306Asp)
c.603G>C (p.Glu201Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.24081338C>TCA485775659NRLc.612G>A (p.Glu204=)
c.195G>A (p.Glu65=)
c.711G>A (p.Glu237=)
c.396G>A (p.Glu132=)
c.297G>A (p.Glu99=)
c.918G>A (p.Glu306=)
c.603G>A (p.Glu201=)
 dbSNP gnomAD v4
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.24081339T>ACA389276935NRLc.611A>T (p.Glu204Val)
c.194A>T (p.Glu65Val)
c.710A>T (p.Glu237Val)
c.395A>T (p.Glu132Val)
c.296A>T (p.Glu99Val)
c.917A>T (p.Glu306Val)
c.602A>T (p.Glu201Val)
 gnomAD v4
14g.24081339T>CCA389276938NRLc.611A>G (p.Glu204Gly)
c.194A>G (p.Glu65Gly)
c.710A>G (p.Glu237Gly)
c.395A>G (p.Glu132Gly)
c.296A>G (p.Glu99Gly)
c.917A>G (p.Glu306Gly)
c.602A>G (p.Glu201Gly)
 gnomAD v4
14g.24081339T>GCA389276945NRLc.611A>C (p.Glu204Ala)
c.194A>C (p.Glu65Ala)
c.710A>C (p.Glu237Ala)
c.395A>C (p.Glu132Ala)
c.296A>C (p.Glu99Ala)
c.917A>C (p.Glu306Ala)
c.602A>C (p.Glu201Ala)
 gnomAD v4
14g.24081340C>ACA389276950NRLc.610G>T (p.Glu204Ter)
c.193G>T (p.Glu65Ter)
c.709G>T (p.Glu237Ter)
c.394G>T (p.Glu132Ter)
c.295G>T (p.Glu99Ter)
c.916G>T (p.Glu306Ter)
c.601G>T (p.Glu201Ter)
 gnomAD v4
14g.24081340C>GCA389276955NRLc.610G>C (p.Glu204Gln)
c.193G>C (p.Glu65Gln)
c.709G>C (p.Glu237Gln)
c.394G>C (p.Glu132Gln)
c.295G>C (p.Glu99Gln)
c.916G>C (p.Glu306Gln)
c.601G>C (p.Glu201Gln)
14g.24081340C>TCA389276956NRLc.610G>A (p.Glu204Lys)
c.193G>A (p.Glu65Lys)
c.709G>A (p.Glu237Lys)
c.394G>A (p.Glu132Lys)
c.295G>A (p.Glu99Lys)
c.916G>A (p.Glu306Lys)
c.601G>A (p.Glu201Lys)
 gnomAD v4 COSMIC
14g.24081341G>ACA485775667NRLc.609C>T (p.Ala203=)
c.192C>T (p.Ala64=)
c.708C>T (p.Ala236=)
c.393C>T (p.Ala131=)
c.294C>T (p.Ala98=)
c.915C>T (p.Ala305=)
c.600C>T (p.Ala200=)
 dbSNP gnomAD v3 gnomAD v4
14g.24081341G>CCA7122819NRLc.609C>G (p.Ala203=)
c.192C>G (p.Ala64=)
c.708C>G (p.Ala236=)
c.393C>G (p.Ala131=)
c.294C>G (p.Ala98=)
c.915C>G (p.Ala305=)
c.600C>G (p.Ala200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081341G=CA2123777418NRLc.609C= (p.Ala203=)
c.192C= (p.Ala64=)
c.708C= (p.Ala236=)
c.393C= (p.Ala131=)
c.294C= (p.Ala98=)
c.915C= (p.Ala305=)
c.600C= (p.Ala200=)
14g.24081341G>TCA485775666NRLc.609C>A (p.Ala203=)
c.192C>A (p.Ala64=)
c.708C>A (p.Ala236=)
c.393C>A (p.Ala131=)
c.294C>A (p.Ala98=)
c.915C>A (p.Ala305=)
c.600C>A (p.Ala200=)
 gnomAD v4
14g.24081342G>ACA389276962NRLc.608C>T (p.Ala203Val)
c.191C>T (p.Ala64Val)
c.707C>T (p.Ala236Val)
c.392C>T (p.Ala131Val)
c.293C>T (p.Ala98Val)
c.914C>T (p.Ala305Val)
c.599C>T (p.Ala200Val)
 gnomAD v4
14g.24081342G>CCA389276964NRLc.608C>G (p.Ala203Gly)
c.191C>G (p.Ala64Gly)
c.707C>G (p.Ala236Gly)
c.392C>G (p.Ala131Gly)
c.293C>G (p.Ala98Gly)
c.914C>G (p.Ala305Gly)
c.599C>G (p.Ala200Gly)
14g.24081342G>TCA389276977NRLc.608C>A (p.Ala203Asp)
c.191C>A (p.Ala64Asp)
c.707C>A (p.Ala236Asp)
c.392C>A (p.Ala131Asp)
c.293C>A (p.Ala98Asp)
c.914C>A (p.Ala305Asp)
c.599C>A (p.Ala200Asp)
 gnomAD v4
14g.24081343C>ACA389276998NRLc.607G>T (p.Ala203Ser)
c.190G>T (p.Ala64Ser)
c.706G>T (p.Ala236Ser)
c.391G>T (p.Ala131Ser)
c.292G>T (p.Ala98Ser)
c.913G>T (p.Ala305Ser)
c.598G>T (p.Ala200Ser)
 gnomAD v4
14g.24081343C=CA2123777423NRLc.607G= (p.Ala203=)
c.190G= (p.Ala64=)
c.706G= (p.Ala236=)
c.391G= (p.Ala131=)
c.292G= (p.Ala98=)
c.913G= (p.Ala305=)
c.598G= (p.Ala200=)
14g.24081343C>GCA389276981NRLc.607G>C (p.Ala203Pro)
c.190G>C (p.Ala64Pro)
c.706G>C (p.Ala236Pro)
c.391G>C (p.Ala131Pro)
c.292G>C (p.Ala98Pro)
c.913G>C (p.Ala305Pro)
c.598G>C (p.Ala200Pro)
14g.24081343C>TCA257868064NRLc.607G>A (p.Ala203Thr)
c.190G>A (p.Ala64Thr)
c.706G>A (p.Ala236Thr)
c.391G>A (p.Ala131Thr)
c.292G>A (p.Ala98Thr)
c.913G>A (p.Ala305Thr)
c.598G>A (p.Ala200Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24081344C>ACA485775670NRLc.606G>T (p.Arg202=)
c.189G>T (p.Arg63=)
c.705G>T (p.Arg235=)
c.390G>T (p.Arg130=)
c.291G>T (p.Arg97=)
c.912G>T (p.Arg304=)
c.597G>T (p.Arg199=)
 gnomAD v4
14g.24081344C=CA2123777431NRLc.606G= (p.Arg202=)
c.189G= (p.Arg63=)
c.705G= (p.Arg235=)
c.390G= (p.Arg130=)
c.291G= (p.Arg97=)
c.912G= (p.Arg304=)
c.597G= (p.Arg199=)
14g.24081344C>GCA485775674NRLc.606G>C (p.Arg202=)
c.189G>C (p.Arg63=)
c.705G>C (p.Arg235=)
c.390G>C (p.Arg130=)
c.291G>C (p.Arg97=)
c.912G>C (p.Arg304=)
c.597G>C (p.Arg199=)
14g.24081344C>TCA485775672NRLc.606G>A (p.Arg202=)
c.189G>A (p.Arg63=)
c.705G>A (p.Arg235=)
c.390G>A (p.Arg130=)
c.291G>A (p.Arg97=)
c.912G>A (p.Arg304=)
c.597G>A (p.Arg199=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081345C>ACA389277014NRLc.605G>T (p.Arg202Leu)
c.188G>T (p.Arg63Leu)
c.704G>T (p.Arg235Leu)
c.389G>T (p.Arg130Leu)
c.290G>T (p.Arg97Leu)
c.911G>T (p.Arg304Leu)
c.596G>T (p.Arg199Leu)
 gnomAD v4
14g.24081345C=CA2123777432NRLc.605G= (p.Arg202=)
c.188G= (p.Arg63=)
c.704G= (p.Arg235=)
c.389G= (p.Arg130=)
c.290G= (p.Arg97=)
c.911G= (p.Arg304=)
c.596G= (p.Arg199=)
14g.24081345C>GCA389277016NRLc.605G>C (p.Arg202Pro)
c.188G>C (p.Arg63Pro)
c.704G>C (p.Arg235Pro)
c.389G>C (p.Arg130Pro)
c.290G>C (p.Arg97Pro)
c.911G>C (p.Arg304Pro)
c.596G>C (p.Arg199Pro)
14g.24081345C>TCA257868065NRLc.605G>A (p.Arg202Gln)
c.188G>A (p.Arg63Gln)
c.704G>A (p.Arg235Gln)
c.389G>A (p.Arg130Gln)
c.290G>A (p.Arg97Gln)
c.911G>A (p.Arg304Gln)
c.596G>A (p.Arg199Gln)
 dbSNP gnomAD v4
14g.24081346G>ACA389277023NRLc.604C>T (p.Arg202Trp)
c.187C>T (p.Arg63Trp)
c.703C>T (p.Arg235Trp)
c.388C>T (p.Arg130Trp)
c.289C>T (p.Arg97Trp)
c.910C>T (p.Arg304Trp)
c.595C>T (p.Arg199Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.24081346G>CCA389277030NRLc.604C>G (p.Arg202Gly)
c.187C>G (p.Arg63Gly)
c.703C>G (p.Arg235Gly)
c.388C>G (p.Arg130Gly)
c.289C>G (p.Arg97Gly)
c.910C>G (p.Arg304Gly)
c.595C>G (p.Arg199Gly)
 gnomAD v4
14g.24081346G=CA2123777435NRLc.604C= (p.Arg202=)
c.187C= (p.Arg63=)
c.703C= (p.Arg235=)
c.388C= (p.Arg130=)
c.289C= (p.Arg97=)
c.910C= (p.Arg304=)
c.595C= (p.Arg199=)
14g.24081346G>TCA485775676NRLc.604C>A (p.Arg202=)
c.187C>A (p.Arg63=)
c.703C>A (p.Arg235=)
c.388C>A (p.Arg130=)
c.289C>A (p.Arg97=)
c.910C>A (p.Arg304=)
c.595C>A (p.Arg199=)
 ClinVar dbSNP gnomAD v4
14g.24081347C>ACA485775677NRLc.603G>T (p.Leu201=)
c.186G>T (p.Leu62=)
c.702G>T (p.Leu234=)
c.387G>T (p.Leu129=)
c.288G>T (p.Leu96=)
c.909G>T (p.Leu303=)
c.594G>T (p.Leu198=)
 gnomAD v4
14g.24081347C>GCA485775678NRLc.603G>C (p.Leu201=)
c.186G>C (p.Leu62=)
c.702G>C (p.Leu234=)
c.387G>C (p.Leu129=)
c.288G>C (p.Leu96=)
c.909G>C (p.Leu303=)
c.594G>C (p.Leu198=)
14g.24081347C>TCA485775681NRLc.603G>A (p.Leu201=)
c.186G>A (p.Leu62=)
c.702G>A (p.Leu234=)
c.387G>A (p.Leu129=)
c.288G>A (p.Leu96=)
c.909G>A (p.Leu303=)
c.594G>A (p.Leu198=)
 gnomAD v4
14g.24081348A>CCA389277041NRLc.602T>G (p.Leu201Arg)
c.185T>G (p.Leu62Arg)
c.701T>G (p.Leu234Arg)
c.386T>G (p.Leu129Arg)
c.287T>G (p.Leu96Arg)
c.908T>G (p.Leu303Arg)
c.593T>G (p.Leu198Arg)
 gnomAD v4
14g.24081348A>GCA389277047NRLc.602T>C (p.Leu201Pro)
c.185T>C (p.Leu62Pro)
c.701T>C (p.Leu234Pro)
c.386T>C (p.Leu129Pro)
c.287T>C (p.Leu96Pro)
c.908T>C (p.Leu303Pro)
c.593T>C (p.Leu198Pro)
 gnomAD v4
14g.24081348A>TCA389277060NRLc.602T>A (p.Leu201Gln)
c.185T>A (p.Leu62Gln)
c.701T>A (p.Leu234Gln)
c.386T>A (p.Leu129Gln)
c.287T>A (p.Leu96Gln)
c.908T>A (p.Leu303Gln)
c.593T>A (p.Leu198Gln)
14g.24081349G>ACA485775683NRLc.601C>T (p.Leu201=)
c.184C>T (p.Leu62=)
c.700C>T (p.Leu234=)
c.385C>T (p.Leu129=)
c.286C>T (p.Leu96=)
c.907C>T (p.Leu303=)
c.592C>T (p.Leu198=)
 gnomAD v4
14g.24081349G>CCA389277066NRLc.601C>G (p.Leu201Val)
c.184C>G (p.Leu62Val)
c.700C>G (p.Leu234Val)
c.385C>G (p.Leu129Val)
c.286C>G (p.Leu96Val)
c.907C>G (p.Leu303Val)
c.592C>G (p.Leu198Val)
14g.24081349G>TCA389277067NRLc.601C>A (p.Leu201Met)
c.184C>A (p.Leu62Met)
c.700C>A (p.Leu234Met)
c.385C>A (p.Leu129Met)
c.286C>A (p.Leu96Met)
c.907C>A (p.Leu303Met)
c.592C>A (p.Leu198Met)
 gnomAD v4
14g.24081350C>ACA485775686NRLc.600G>T (p.Ala200=)
c.183G>T (p.Ala61=)
c.699G>T (p.Ala233=)
c.384G>T (p.Ala128=)
c.285G>T (p.Ala95=)
c.906G>T (p.Ala302=)
c.591G>T (p.Ala197=)
14g.24081350C>GCA485775688NRLc.600G>C (p.Ala200=)
c.183G>C (p.Ala61=)
c.699G>C (p.Ala233=)
c.384G>C (p.Ala128=)
c.285G>C (p.Ala95=)
c.906G>C (p.Ala302=)
c.591G>C (p.Ala197=)
14g.24081350C>TCA485775689NRLc.600G>A (p.Ala200=)
c.183G>A (p.Ala61=)
c.699G>A (p.Ala233=)
c.384G>A (p.Ala128=)
c.285G>A (p.Ala95=)
c.906G>A (p.Ala302=)
c.591G>A (p.Ala197=)
 gnomAD v4
14g.24081351G>ACA389277090NRLc.599C>T (p.Ala200Val)
c.182C>T (p.Ala61Val)
c.698C>T (p.Ala233Val)
c.383C>T (p.Ala128Val)
c.284C>T (p.Ala95Val)
c.905C>T (p.Ala302Val)
c.590C>T (p.Ala197Val)
 gnomAD v4
14g.24081351G>CCA389277081NRLc.599C>G (p.Ala200Gly)
c.182C>G (p.Ala61Gly)
c.698C>G (p.Ala233Gly)
c.383C>G (p.Ala128Gly)
c.284C>G (p.Ala95Gly)
c.905C>G (p.Ala302Gly)
c.590C>G (p.Ala197Gly)
14g.24081351G>TCA389277076NRLc.599C>A (p.Ala200Glu)
c.182C>A (p.Ala61Glu)
c.698C>A (p.Ala233Glu)
c.383C>A (p.Ala128Glu)
c.284C>A (p.Ala95Glu)
c.905C>A (p.Ala302Glu)
c.590C>A (p.Ala197Glu)
 ClinVar dbSNP gnomAD v4
14g.24081352C>ACA389277095NRLc.598G>T (p.Ala200Ser)
c.181G>T (p.Ala61Ser)
c.697G>T (p.Ala233Ser)
c.382G>T (p.Ala128Ser)
c.283G>T (p.Ala95Ser)
c.904G>T (p.Ala302Ser)
c.589G>T (p.Ala197Ser)
 gnomAD v4
14g.24081352C=CA2123777438NRLc.598G= (p.Ala200=)
c.181G= (p.Ala61=)
c.697G= (p.Ala233=)
c.382G= (p.Ala128=)
c.283G= (p.Ala95=)
c.904G= (p.Ala302=)
c.589G= (p.Ala197=)
14g.24081352C>GCA389277105NRLc.598G>C (p.Ala200Pro)
c.181G>C (p.Ala61Pro)
c.697G>C (p.Ala233Pro)
c.382G>C (p.Ala128Pro)
c.283G>C (p.Ala95Pro)
c.904G>C (p.Ala302Pro)
c.589G>C (p.Ala197Pro)
 dbSNP gnomAD v3 gnomAD v4
14g.24081352C>TCA389277108NRLc.598G>A (p.Ala200Thr)
c.181G>A (p.Ala61Thr)
c.697G>A (p.Ala233Thr)
c.382G>A (p.Ala128Thr)
c.283G>A (p.Ala95Thr)
c.904G>A (p.Ala302Thr)
c.589G>A (p.Ala197Thr)
14g.24081353G>ACA485775695NRLc.597C>T (p.Asp199=)
c.180C>T (p.Asp60=)
c.696C>T (p.Asp232=)
c.381C>T (p.Asp127=)
c.282C>T (p.Asp94=)
c.903C>T (p.Asp301=)
c.588C>T (p.Asp196=)
 gnomAD v4
14g.24081353G>CCA257868066NRLc.597C>G (p.Asp199Glu)
c.180C>G (p.Asp60Glu)
c.696C>G (p.Asp232Glu)
c.381C>G (p.Asp127Glu)
c.282C>G (p.Asp94Glu)
c.903C>G (p.Asp301Glu)
c.588C>G (p.Asp196Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.24081353G=CA2123777445NRLc.597C= (p.Asp199=)
c.180C= (p.Asp60=)
c.696C= (p.Asp232=)
c.381C= (p.Asp127=)
c.282C= (p.Asp94=)
c.903C= (p.Asp301=)
c.588C= (p.Asp196=)
14g.24081353G>TCA389277124NRLc.597C>A (p.Asp199Glu)
c.180C>A (p.Asp60Glu)
c.696C>A (p.Asp232Glu)
c.381C>A (p.Asp127Glu)
c.282C>A (p.Asp94Glu)
c.903C>A (p.Asp301Glu)
c.588C>A (p.Asp196Glu)
 gnomAD v4
14g.24081354T>ACA389277128NRLc.596A>T (p.Asp199Val)
c.179A>T (p.Asp60Val)
c.695A>T (p.Asp232Val)
c.380A>T (p.Asp127Val)
c.281A>T (p.Asp94Val)
c.902A>T (p.Asp301Val)
c.587A>T (p.Asp196Val)
14g.24081354T>CCA389277130NRLc.596A>G (p.Asp199Gly)
c.179A>G (p.Asp60Gly)
c.695A>G (p.Asp232Gly)
c.380A>G (p.Asp127Gly)
c.281A>G (p.Asp94Gly)
c.902A>G (p.Asp301Gly)
c.587A>G (p.Asp196Gly)
 gnomAD v4
14g.24081354T>GCA389277132NRLc.596A>C (p.Asp199Ala)
c.179A>C (p.Asp60Ala)
c.695A>C (p.Asp232Ala)
c.380A>C (p.Asp127Ala)
c.281A>C (p.Asp94Ala)
c.902A>C (p.Asp301Ala)
c.587A>C (p.Asp196Ala)
14g.24081355C>ACA389277136NRLc.595G>T (p.Asp199Tyr)
c.178G>T (p.Asp60Tyr)
c.694G>T (p.Asp232Tyr)
c.379G>T (p.Asp127Tyr)
c.280G>T (p.Asp94Tyr)
c.901G>T (p.Asp301Tyr)
c.586G>T (p.Asp196Tyr)
14g.24081355C>GCA389277141NRLc.595G>C (p.Asp199His)
c.178G>C (p.Asp60His)
c.694G>C (p.Asp232His)
c.379G>C (p.Asp127His)
c.280G>C (p.Asp94His)
c.901G>C (p.Asp301His)
c.586G>C (p.Asp196His)
14g.24081355C>TCA389277145NRLc.595G>A (p.Asp199Asn)
c.178G>A (p.Asp60Asn)
c.694G>A (p.Asp232Asn)
c.379G>A (p.Asp127Asn)
c.280G>A (p.Asp94Asn)
c.901G>A (p.Asp301Asn)
c.586G>A (p.Asp196Asn)
14g.24081356C>ACA485775700NRLc.594G>T (p.Leu198=)
c.177G>T (p.Leu59=)
c.693G>T (p.Leu231=)
c.378G>T (p.Leu126=)
c.279G>T (p.Leu93=)
c.900G>T (p.Leu300=)
c.585G>T (p.Leu195=)
 gnomAD v4
14g.24081356C>GCA485775702NRLc.594G>C (p.Leu198=)
c.177G>C (p.Leu59=)
c.693G>C (p.Leu231=)
c.378G>C (p.Leu126=)
c.279G>C (p.Leu93=)
c.900G>C (p.Leu300=)
c.585G>C (p.Leu195=)
14g.24081356C>TCA485775703NRLc.594G>A (p.Leu198=)
c.177G>A (p.Leu59=)
c.693G>A (p.Leu231=)
c.378G>A (p.Leu126=)
c.279G>A (p.Leu93=)
c.900G>A (p.Leu300=)
c.585G>A (p.Leu195=)
 gnomAD v4
14g.24081357A=CA2123777450NRLc.593T= (p.Leu198=)
c.176T= (p.Leu59=)
c.692T= (p.Leu231=)
c.377T= (p.Leu126=)
c.278T= (p.Leu93=)
c.899T= (p.Leu300=)
c.584T= (p.Leu195=)
14g.24081357A>CCA389277150NRLc.593T>G (p.Leu198Arg)
c.176T>G (p.Leu59Arg)
c.692T>G (p.Leu231Arg)
c.377T>G (p.Leu126Arg)
c.278T>G (p.Leu93Arg)
c.899T>G (p.Leu300Arg)
c.584T>G (p.Leu195Arg)
14g.24081357A>GCA257868067NRLc.593T>C (p.Leu198Pro)
c.176T>C (p.Leu59Pro)
c.692T>C (p.Leu231Pro)
c.377T>C (p.Leu126Pro)
c.278T>C (p.Leu93Pro)
c.899T>C (p.Leu300Pro)
c.584T>C (p.Leu195Pro)
 dbSNP gnomAD v4
14g.24081357A>TCA389277149NRLc.593T>A (p.Leu198Gln)
c.176T>A (p.Leu59Gln)
c.692T>A (p.Leu231Gln)
c.377T>A (p.Leu126Gln)
c.278T>A (p.Leu93Gln)
c.899T>A (p.Leu300Gln)
c.584T>A (p.Leu195Gln)
14g.24081358G>ACA485775705NRLc.592C>T (p.Leu198=)
c.175C>T (p.Leu59=)
c.691C>T (p.Leu231=)
c.376C>T (p.Leu126=)
c.277C>T (p.Leu93=)
c.898C>T (p.Leu300=)
c.583C>T (p.Leu195=)
 gnomAD v4
14g.24081358G>CCA389277155NRLc.592C>G (p.Leu198Val)
c.175C>G (p.Leu59Val)
c.691C>G (p.Leu231Val)
c.376C>G (p.Leu126Val)
c.277C>G (p.Leu93Val)
c.898C>G (p.Leu300Val)
c.583C>G (p.Leu195Val)
14g.24081358G>TCA389277158NRLc.592C>A (p.Leu198Met)
c.175C>A (p.Leu59Met)
c.691C>A (p.Leu231Met)
c.376C>A (p.Leu126Met)
c.277C>A (p.Leu93Met)
c.898C>A (p.Leu300Met)
c.583C>A (p.Leu195Met)
14g.24081359C>ACA389277165NRLc.591G>T (p.Gln197His)
c.174G>T (p.Gln58His)
c.690G>T (p.Gln230His)
c.375G>T (p.Gln125His)
c.276G>T (p.Gln92His)
c.897G>T (p.Gln299His)
c.582G>T (p.Gln194His)
 gnomAD v4
14g.24081359C=CA2123777453NRLc.591G= (p.Gln197=)
c.174G= (p.Gln58=)
c.690G= (p.Gln230=)
c.375G= (p.Gln125=)
c.276G= (p.Gln92=)
c.897G= (p.Gln299=)
c.582G= (p.Gln194=)
14g.24081359C>GCA389277169NRLc.591G>C (p.Gln197His)
c.174G>C (p.Gln58His)
c.690G>C (p.Gln230His)
c.375G>C (p.Gln125His)
c.276G>C (p.Gln92His)
c.897G>C (p.Gln299His)
c.582G>C (p.Gln194His)
 dbSNP
14g.24081359C>TCA485775706NRLc.591G>A (p.Gln197=)
c.174G>A (p.Gln58=)
c.690G>A (p.Gln230=)
c.375G>A (p.Gln125=)
c.276G>A (p.Gln92=)
c.897G>A (p.Gln299=)
c.582G>A (p.Gln194=)
 gnomAD v4
14g.24081360T>ACA389277174NRLc.590A>T (p.Gln197Leu)
c.173A>T (p.Gln58Leu)
c.689A>T (p.Gln230Leu)
c.374A>T (p.Gln125Leu)
c.275A>T (p.Gln92Leu)
c.896A>T (p.Gln299Leu)
c.581A>T (p.Gln194Leu)
14g.24081360T>CCA389277183NRLc.590A>G (p.Gln197Arg)
c.173A>G (p.Gln58Arg)
c.689A>G (p.Gln230Arg)
c.374A>G (p.Gln125Arg)
c.275A>G (p.Gln92Arg)
c.896A>G (p.Gln299Arg)
c.581A>G (p.Gln194Arg)
 gnomAD v4
14g.24081360T>GCA389277188NRLc.590A>C (p.Gln197Pro)
c.173A>C (p.Gln58Pro)
c.689A>C (p.Gln230Pro)
c.374A>C (p.Gln125Pro)
c.275A>C (p.Gln92Pro)
c.896A>C (p.Gln299Pro)
c.581A>C (p.Gln194Pro)
14g.24081361G>ACA389277193NRLc.589C>T (p.Gln197Ter)
c.172C>T (p.Gln58Ter)
c.688C>T (p.Gln230Ter)
c.373C>T (p.Gln125Ter)
c.274C>T (p.Gln92Ter)
c.895C>T (p.Gln299Ter)
c.580C>T (p.Gln194Ter)
 ClinVar dbSNP gnomAD v4
14g.24081361G>CCA389277194NRLc.589C>G (p.Gln197Glu)
c.172C>G (p.Gln58Glu)
c.688C>G (p.Gln230Glu)
c.373C>G (p.Gln125Glu)
c.274C>G (p.Gln92Glu)
c.895C>G (p.Gln299Glu)
c.580C>G (p.Gln194Glu)
14g.24081361G=CA2123777456NRLc.589C= (p.Gln197=)
c.172C= (p.Gln58=)
c.688C= (p.Gln230=)
c.373C= (p.Gln125=)
c.274C= (p.Gln92=)
c.895C= (p.Gln299=)
c.580C= (p.Gln194=)
14g.24081361G>TCA389277196NRLc.589C>A (p.Gln197Lys)
c.172C>A (p.Gln58Lys)
c.688C>A (p.Gln230Lys)
c.373C>A (p.Gln125Lys)
c.274C>A (p.Gln92Lys)
c.895C>A (p.Gln299Lys)
c.580C>A (p.Gln194Lys)
14g.24081363delCA2624298179NRLc.589del (p.Gln197SerfsTer26)
c.172del (p.Gln58SerfsTer26)
c.688del (p.Gln230SerfsTer26)
c.373del (p.Gln125SerfsTer26)
c.274del (p.Gln92SerfsTer26)
c.895del (p.Gln299SerfsTer26)
c.580del (p.Gln194SerfsTer26)
 gnomAD v4
14g.24081362G>ACA485775708NRLc.588C>T (p.Ala196=)
c.171C>T (p.Ala57=)
c.687C>T (p.Ala229=)
c.372C>T (p.Ala124=)
c.273C>T (p.Ala91=)
c.894C>T (p.Ala298=)
c.579C>T (p.Ala193=)
 gnomAD v4
14g.24081362G>CCA485775709NRLc.588C>G (p.Ala196=)
c.171C>G (p.Ala57=)
c.687C>G (p.Ala229=)
c.372C>G (p.Ala124=)
c.273C>G (p.Ala91=)
c.894C>G (p.Ala298=)
c.579C>G (p.Ala193=)
14g.24081362G>TCA485775711NRLc.588C>A (p.Ala196=)
c.171C>A (p.Ala57=)
c.687C>A (p.Ala229=)
c.372C>A (p.Ala124=)
c.273C>A (p.Ala91=)
c.894C>A (p.Ala298=)
c.579C>A (p.Ala193=)
 gnomAD v4
14g.24081363G>ACA389277198NRLc.587C>T (p.Ala196Val)
c.170C>T (p.Ala57Val)
c.686C>T (p.Ala229Val)
c.371C>T (p.Ala124Val)
c.272C>T (p.Ala91Val)
c.893C>T (p.Ala298Val)
c.578C>T (p.Ala193Val)
 gnomAD v4
14g.24081363G>CCA389277201NRLc.587C>G (p.Ala196Gly)
c.170C>G (p.Ala57Gly)
c.686C>G (p.Ala229Gly)
c.371C>G (p.Ala124Gly)
c.272C>G (p.Ala91Gly)
c.893C>G (p.Ala298Gly)
c.578C>G (p.Ala193Gly)
14g.24081363G>TCA389277203NRLc.587C>A (p.Ala196Asp)
c.170C>A (p.Ala57Asp)
c.686C>A (p.Ala229Asp)
c.371C>A (p.Ala124Asp)
c.272C>A (p.Ala91Asp)
c.893C>A (p.Ala298Asp)
c.578C>A (p.Ala193Asp)
 gnomAD v4
14g.24081364C>ACA389277209NRLc.586G>T (p.Ala196Ser)
c.169G>T (p.Ala57Ser)
c.685G>T (p.Ala229Ser)
c.370G>T (p.Ala124Ser)
c.271G>T (p.Ala91Ser)
c.892G>T (p.Ala298Ser)
c.577G>T (p.Ala193Ser)
 gnomAD v4
14g.24081364C=CA2123777459NRLc.586G= (p.Ala196=)
c.169G= (p.Ala57=)
c.685G= (p.Ala229=)
c.370G= (p.Ala124=)
c.271G= (p.Ala91=)
c.892G= (p.Ala298=)
c.577G= (p.Ala193=)
14g.24081364C>GCA389277210NRLc.586G>C (p.Ala196Pro)
c.169G>C (p.Ala57Pro)
c.685G>C (p.Ala229Pro)
c.370G>C (p.Ala124Pro)
c.271G>C (p.Ala91Pro)
c.892G>C (p.Ala298Pro)
c.577G>C (p.Ala193Pro)
14g.24081364C>TCA389277208NRLc.586G>A (p.Ala196Thr)
c.169G>A (p.Ala57Thr)
c.685G>A (p.Ala229Thr)
c.370G>A (p.Ala124Thr)
c.271G>A (p.Ala91Thr)
c.892G>A (p.Ala298Thr)
c.577G>A (p.Ala193Thr)
 dbSNP gnomAD v2 gnomAD v4
14g.24081365G>ACA485775713NRLc.585C>T (p.Ala195=)
c.168C>T (p.Ala56=)
c.684C>T (p.Ala228=)
c.369C>T (p.Ala123=)
c.270C>T (p.Ala90=)
c.891C>T (p.Ala297=)
c.576C>T (p.Ala192=)
 gnomAD v4
14g.24081365G>CCA7122820NRLc.585C>G (p.Ala195=)
c.168C>G (p.Ala56=)
c.684C>G (p.Ala228=)
c.369C>G (p.Ala123=)
c.270C>G (p.Ala90=)
c.891C>G (p.Ala297=)
c.576C>G (p.Ala192=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081365G=CA2123777462NRLc.585C= (p.Ala195=)
c.168C= (p.Ala56=)
c.684C= (p.Ala228=)
c.369C= (p.Ala123=)
c.270C= (p.Ala90=)
c.891C= (p.Ala297=)
c.576C= (p.Ala192=)
14g.24081365G>TCA485775714NRLc.585C>A (p.Ala195=)
c.168C>A (p.Ala56=)
c.684C>A (p.Ala228=)
c.369C>A (p.Ala123=)
c.270C>A (p.Ala90=)
c.891C>A (p.Ala297=)
c.576C>A (p.Ala192=)
 gnomAD v4
14g.24081366dupCA2624298191NRLc.585dup (p.Ala196ArgfsTer25)
c.168dup (p.Ala57ArgfsTer25)
c.684dup (p.Ala229ArgfsTer25)
c.369dup (p.Ala124ArgfsTer25)
c.270dup (p.Ala91ArgfsTer25)
c.891dup (p.Ala298ArgfsTer25)
c.576dup (p.Ala193ArgfsTer25)
 gnomAD v4
14g.24081366G>ACA389277215NRLc.584C>T (p.Ala195Val)
c.167C>T (p.Ala56Val)
c.683C>T (p.Ala228Val)
c.368C>T (p.Ala123Val)
c.269C>T (p.Ala90Val)
c.890C>T (p.Ala297Val)
c.575C>T (p.Ala192Val)
 dbSNP gnomAD v2 gnomAD v4
14g.24081366G>CCA389277220NRLc.584C>G (p.Ala195Gly)
c.167C>G (p.Ala56Gly)
c.683C>G (p.Ala228Gly)
c.368C>G (p.Ala123Gly)
c.269C>G (p.Ala90Gly)
c.890C>G (p.Ala297Gly)
c.575C>G (p.Ala192Gly)
14g.24081366G=CA2123777465NRLc.584C= (p.Ala195=)
c.167C= (p.Ala56=)
c.683C= (p.Ala228=)
c.368C= (p.Ala123=)
c.269C= (p.Ala90=)
c.890C= (p.Ala297=)
c.575C= (p.Ala192=)
14g.24081366G>TCA389277218NRLc.584C>A (p.Ala195Asp)
c.167C>A (p.Ala56Asp)
c.683C>A (p.Ala228Asp)
c.368C>A (p.Ala123Asp)
c.269C>A (p.Ala90Asp)
c.890C>A (p.Ala297Asp)
c.575C>A (p.Ala192Asp)
 gnomAD v4
14g.24081367C>ACA389277226NRLc.583G>T (p.Ala195Ser)
c.166G>T (p.Ala56Ser)
c.682G>T (p.Ala228Ser)
c.367G>T (p.Ala123Ser)
c.268G>T (p.Ala90Ser)
c.889G>T (p.Ala297Ser)
c.574G>T (p.Ala192Ser)
 gnomAD v4
14g.24081367C>GCA389277227NRLc.583G>C (p.Ala195Pro)
c.166G>C (p.Ala56Pro)
c.682G>C (p.Ala228Pro)
c.367G>C (p.Ala123Pro)
c.268G>C (p.Ala90Pro)
c.889G>C (p.Ala297Pro)
c.574G>C (p.Ala192Pro)
14g.24081367C>TCA389277228NRLc.583G>A (p.Ala195Thr)
c.166G>A (p.Ala56Thr)
c.682G>A (p.Ala228Thr)
c.367G>A (p.Ala123Thr)
c.268G>A (p.Ala90Thr)
c.889G>A (p.Ala297Thr)
c.574G>A (p.Ala192Thr)
 gnomAD v4
14g.24081368delCA2624298201NRLc.583del (p.Ala195ProfsTer28)
c.166del (p.Ala56ProfsTer28)
c.682del (p.Ala228ProfsTer28)
c.367del (p.Ala123ProfsTer28)
c.268del (p.Ala90ProfsTer28)
c.889del (p.Ala297ProfsTer28)
c.574del (p.Ala192ProfsTer28)
 gnomAD v4
14g.24081368C>ACA485775716NRLc.582G>T (p.Leu194=)
c.165G>T (p.Leu55=)
c.681G>T (p.Leu227=)
c.366G>T (p.Leu122=)
c.267G>T (p.Leu89=)
c.888G>T (p.Leu296=)
c.573G>T (p.Leu191=)
 gnomAD v4
14g.24081368C>GCA485775717NRLc.582G>C (p.Leu194=)
c.165G>C (p.Leu55=)
c.681G>C (p.Leu227=)
c.366G>C (p.Leu122=)
c.267G>C (p.Leu89=)
c.888G>C (p.Leu296=)
c.573G>C (p.Leu191=)
14g.24081368C>TCA485775718NRLc.582G>A (p.Leu194=)
c.165G>A (p.Leu55=)
c.681G>A (p.Leu227=)
c.366G>A (p.Leu122=)
c.267G>A (p.Leu89=)
c.888G>A (p.Leu296=)
c.573G>A (p.Leu191=)
 gnomAD v4
14g.24081369A=CA2123777467NRLc.581T= (p.Leu194=)
c.164T= (p.Leu55=)
c.680T= (p.Leu227=)
c.365T= (p.Leu122=)
c.266T= (p.Leu89=)
c.887T= (p.Leu296=)
c.572T= (p.Leu191=)
14g.24081369A>CCA389277233NRLc.581T>G (p.Leu194Arg)
c.164T>G (p.Leu55Arg)
c.680T>G (p.Leu227Arg)
c.365T>G (p.Leu122Arg)
c.266T>G (p.Leu89Arg)
c.887T>G (p.Leu296Arg)
c.572T>G (p.Leu191Arg)
14g.24081369A>GCA257868070NRLc.581T>C (p.Leu194Pro)
c.164T>C (p.Leu55Pro)
c.680T>C (p.Leu227Pro)
c.365T>C (p.Leu122Pro)
c.266T>C (p.Leu89Pro)
c.887T>C (p.Leu296Pro)
c.572T>C (p.Leu191Pro)
 dbSNP
14g.24081369A>TCA389277246NRLc.581T>A (p.Leu194Gln)
c.164T>A (p.Leu55Gln)
c.680T>A (p.Leu227Gln)
c.365T>A (p.Leu122Gln)
c.266T>A (p.Leu89Gln)
c.887T>A (p.Leu296Gln)
c.572T>A (p.Leu191Gln)
 gnomAD v4
14g.24081370G>ACA485775721NRLc.580C>T (p.Leu194=)
c.163C>T (p.Leu55=)
c.679C>T (p.Leu227=)
c.364C>T (p.Leu122=)
c.265C>T (p.Leu89=)
c.886C>T (p.Leu296=)
c.571C>T (p.Leu191=)
 dbSNP gnomAD v2 gnomAD v4
14g.24081370G>CCA389277252NRLc.580C>G (p.Leu194Val)
c.163C>G (p.Leu55Val)
c.679C>G (p.Leu227Val)
c.364C>G (p.Leu122Val)
c.265C>G (p.Leu89Val)
c.886C>G (p.Leu296Val)
c.571C>G (p.Leu191Val)
14g.24081370G=CA2123777470NRLc.580C= (p.Leu194=)
c.163C= (p.Leu55=)
c.679C= (p.Leu227=)
c.364C= (p.Leu122=)
c.265C= (p.Leu89=)
c.886C= (p.Leu296=)
c.571C= (p.Leu191=)
14g.24081370G>TCA389277257NRLc.580C>A (p.Leu194Met)
c.163C>A (p.Leu55Met)
c.679C>A (p.Leu227Met)
c.364C>A (p.Leu122Met)
c.265C>A (p.Leu89Met)
c.886C>A (p.Leu296Met)
c.571C>A (p.Leu191Met)
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.24081371G>ACA485775722NRLc.579C>T (p.Arg193=)
c.162C>T (p.Arg54=)
c.678C>T (p.Arg226=)
c.363C>T (p.Arg121=)
c.264C>T (p.Arg88=)
c.885C>T (p.Arg295=)
c.570C>T (p.Arg190=)
 dbSNP gnomAD v4
14g.24081371G>CCA485775723NRLc.579C>G (p.Arg193=)
c.162C>G (p.Arg54=)
c.678C>G (p.Arg226=)
c.363C>G (p.Arg121=)
c.264C>G (p.Arg88=)
c.885C>G (p.Arg295=)
c.570C>G (p.Arg190=)
14g.24081371G>TCA485775724NRLc.579C>A (p.Arg193=)
c.162C>A (p.Arg54=)
c.678C>A (p.Arg226=)
c.363C>A (p.Arg121=)
c.264C>A (p.Arg88=)
c.885C>A (p.Arg295=)
c.570C>A (p.Arg190=)
 gnomAD v4
14g.24081372delCA2624298220NRLc.578del (p.Arg193ProfsTer30)
c.161del (p.Arg54ProfsTer30)
c.677del (p.Arg226ProfsTer30)
c.362del (p.Arg121ProfsTer30)
c.263del (p.Arg88ProfsTer30)
c.884del (p.Arg295ProfsTer30)
c.569del (p.Arg190ProfsTer30)
 gnomAD v4
14g.24081372C>ACA389277266NRLc.578G>T (p.Arg193Leu)
c.161G>T (p.Arg54Leu)
c.677G>T (p.Arg226Leu)
c.362G>T (p.Arg121Leu)
c.263G>T (p.Arg88Leu)
c.884G>T (p.Arg295Leu)
c.569G>T (p.Arg190Leu)
 gnomAD v4
14g.24081372C=CA2123777475NRLc.578G= (p.Arg193=)
c.161G= (p.Arg54=)
c.677G= (p.Arg226=)
c.362G= (p.Arg121=)
c.263G= (p.Arg88=)
c.884G= (p.Arg295=)
c.569G= (p.Arg190=)
14g.24081372C>GCA389277291NRLc.578G>C (p.Arg193Pro)
c.161G>C (p.Arg54Pro)
c.677G>C (p.Arg226Pro)
c.362G>C (p.Arg121Pro)
c.263G>C (p.Arg88Pro)
c.884G>C (p.Arg295Pro)
c.569G>C (p.Arg190Pro)
14g.24081372C>TCA389277305NRLc.578G>A (p.Arg193His)
c.161G>A (p.Arg54His)
c.677G>A (p.Arg226His)
c.362G>A (p.Arg121His)
c.263G>A (p.Arg88His)
c.884G>A (p.Arg295His)
c.569G>A (p.Arg190His)
 ClinVar dbSNP gnomAD v4
14g.24081373G>ACA7122821NRLc.577C>T (p.Arg193Cys)
c.160C>T (p.Arg54Cys)
c.676C>T (p.Arg226Cys)
c.361C>T (p.Arg121Cys)
c.262C>T (p.Arg88Cys)
c.883C>T (p.Arg295Cys)
c.568C>T (p.Arg190Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.24081373G>CCA389277314NRLc.577C>G (p.Arg193Gly)
c.160C>G (p.Arg54Gly)
c.676C>G (p.Arg226Gly)
c.361C>G (p.Arg121Gly)
c.262C>G (p.Arg88Gly)
c.883C>G (p.Arg295Gly)
c.568C>G (p.Arg190Gly)
14g.24081373G=CA2123777483NRLc.577C= (p.Arg193=)
c.160C= (p.Arg54=)
c.676C= (p.Arg226=)
c.361C= (p.Arg121=)
c.262C= (p.Arg88=)
c.883C= (p.Arg295=)
c.568C= (p.Arg190=)
14g.24081373G>TCA389277310NRLc.577C>A (p.Arg193Ser)
c.160C>A (p.Arg54Ser)
c.676C>A (p.Arg226Ser)
c.361C>A (p.Arg121Ser)
c.262C>A (p.Arg88Ser)
c.883C>A (p.Arg295Ser)
c.568C>A (p.Arg190Ser)
 gnomAD v4
14g.24081374G>ACA485775730NRLc.576C>T (p.Ala192=)
c.159C>T (p.Ala53=)
c.675C>T (p.Ala225=)
c.360C>T (p.Ala120=)
c.261C>T (p.Ala87=)
c.882C>T (p.Ala294=)
c.567C>T (p.Ala189=)
 dbSNP gnomAD v3 gnomAD v4
14g.24081374G>CCA485775731NRLc.576C>G (p.Ala192=)
c.159C>G (p.Ala53=)
c.675C>G (p.Ala225=)
c.360C>G (p.Ala120=)
c.261C>G (p.Ala87=)
c.882C>G (p.Ala294=)
c.567C>G (p.Ala189=)
14g.24081374G=CA2123777492NRLc.576C= (p.Ala192=)
c.159C= (p.Ala53=)
c.675C= (p.Ala225=)
c.360C= (p.Ala120=)
c.261C= (p.Ala87=)
c.882C= (p.Ala294=)
c.567C= (p.Ala189=)
14g.24081374G>TCA485775732NRLc.576C>A (p.Ala192=)
c.159C>A (p.Ala53=)
c.675C>A (p.Ala225=)
c.360C>A (p.Ala120=)
c.261C>A (p.Ala87=)
c.882C>A (p.Ala294=)
c.567C>A (p.Ala189=)
 gnomAD v4
14g.24081375G>ACA389277324NRLc.575C>T (p.Ala192Val)
c.158C>T (p.Ala53Val)
c.674C>T (p.Ala225Val)
c.359C>T (p.Ala120Val)
c.260C>T (p.Ala87Val)
c.881C>T (p.Ala294Val)
c.566C>T (p.Ala189Val)
 dbSNP gnomAD v2 gnomAD v4
14g.24081375G>CCA389277329NRLc.575C>G (p.Ala192Gly)
c.158C>G (p.Ala53Gly)
c.674C>G (p.Ala225Gly)
c.359C>G (p.Ala120Gly)
c.260C>G (p.Ala87Gly)
c.881C>G (p.Ala294Gly)
c.566C>G (p.Ala189Gly)
 gnomAD v4
14g.24081375G=CA2123777498NRLc.575C= (p.Ala192=)
c.158C= (p.Ala53=)
c.674C= (p.Ala225=)
c.359C= (p.Ala120=)
c.260C= (p.Ala87=)
c.881C= (p.Ala294=)
c.566C= (p.Ala189=)
14g.24081375G>TCA389277331NRLc.575C>A (p.Ala192Asp)
c.158C>A (p.Ala53Asp)
c.674C>A (p.Ala225Asp)
c.359C>A (p.Ala120Asp)
c.260C>A (p.Ala87Asp)
c.881C>A (p.Ala294Asp)
c.566C>A (p.Ala189Asp)
14g.24081376C>ACA389277337NRLc.574G>T (p.Ala192Ser)
c.157G>T (p.Ala53Ser)
c.673G>T (p.Ala225Ser)
c.358G>T (p.Ala120Ser)
c.259G>T (p.Ala87Ser)
c.880G>T (p.Ala294Ser)
c.565G>T (p.Ala189Ser)
 dbSNP gnomAD v2 gnomAD v4
14g.24081376C=CA2123777507NRLc.574G= (p.Ala192=)
c.157G= (p.Ala53=)
c.673G= (p.Ala225=)
c.358G= (p.Ala120=)
c.259G= (p.Ala87=)
c.880G= (p.Ala294=)
c.565G= (p.Ala189=)
14g.24081376C>GCA389277343NRLc.574G>C (p.Ala192Pro)
c.157G>C (p.Ala53Pro)
c.673G>C (p.Ala225Pro)
c.358G>C (p.Ala120Pro)
c.259G>C (p.Ala87Pro)
c.880G>C (p.Ala294Pro)
c.565G>C (p.Ala189Pro)
 gnomAD v4
14g.24081376C>TCA257868073NRLc.574G>A (p.Ala192Thr)
c.157G>A (p.Ala53Thr)
c.673G>A (p.Ala225Thr)
c.358G>A (p.Ala120Thr)
c.259G>A (p.Ala87Thr)
c.880G>A (p.Ala294Thr)
c.565G>A (p.Ala189Thr)
 dbSNP gnomAD v4
14g.24081377G>ACA485775736NRLc.573C>T (p.Arg191=)
c.156C>T (p.Arg52=)
c.672C>T (p.Arg224=)
c.357C>T (p.Arg119=)
c.258C>T (p.Arg86=)
c.879C>T (p.Arg293=)
c.564C>T (p.Arg188=)
 gnomAD v4
14g.24081377G>CCA485775737NRLc.573C>G (p.Arg191=)
c.156C>G (p.Arg52=)
c.672C>G (p.Arg224=)
c.357C>G (p.Arg119=)
c.258C>G (p.Arg86=)
c.879C>G (p.Arg293=)
c.564C>G (p.Arg188=)
14g.24081377G>TCA485775738NRLc.573C>A (p.Arg191=)
c.156C>A (p.Arg52=)
c.672C>A (p.Arg224=)
c.357C>A (p.Arg119=)
c.258C>A (p.Arg86=)
c.879C>A (p.Arg293=)
c.564C>A (p.Arg188=)
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

Number of alleles fetched