Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.157471675T>ACA361972446ADAM19,NIPAL4c.444T>A (p.Tyr148Ter)
c.387T>A (p.Tyr129Ter)
c.630T>A (p.Tyr210Ter)
c.573T>A (p.Tyr191Ter)
c.*1741+16590A>T (n.*1741+16590A>T)
c.542T>A (n.542T>A)
c.135T>A (p.Tyr45Ter)
c.-70T>A (n.-70T>A)
5g.157471675T>CCA447431175ADAM19,NIPAL4c.444T>C (p.Tyr148=)
c.387T>C (p.Tyr129=)
c.630T>C (p.Tyr210=)
c.573T>C (p.Tyr191=)
c.*1741+16590A>G (n.*1741+16590A>G)
c.542T>C (n.542T>C)
c.135T>C (p.Tyr45=)
c.-70T>C (n.-70T>C)
5g.157471675T>GCA361972448ADAM19,NIPAL4c.444T>G (p.Tyr148Ter)
c.387T>G (p.Tyr129Ter)
c.630T>G (p.Tyr210Ter)
c.573T>G (p.Tyr191Ter)
c.*1741+16590A>C (n.*1741+16590A>C)
c.542T>G (n.542T>G)
c.135T>G (p.Tyr45Ter)
c.-70T>G (n.-70T>G)
5g.157471676T>ACA361972450ADAM19,NIPAL4c.445T>A (p.Phe149Ile)
c.388T>A (p.Phe130Ile)
c.631T>A (p.Phe211Ile)
c.574T>A (p.Phe192Ile)
c.*1741+16589A>T (n.*1741+16589A>T)
c.543T>A (n.543T>A)
c.136T>A (p.Phe46Ile)
c.-69T>A (n.-69T>A)
5g.157471676T>CCA361972452ADAM19,NIPAL4c.445T>C (p.Phe149Leu)
c.388T>C (p.Phe130Leu)
c.631T>C (p.Phe211Leu)
c.574T>C (p.Phe192Leu)
c.*1741+16589A>G (n.*1741+16589A>G)
c.543T>C (n.543T>C)
c.136T>C (p.Phe46Leu)
c.-69T>C (n.-69T>C)
5g.157471676T>GCA361972454ADAM19,NIPAL4c.445T>G (p.Phe149Val)
c.388T>G (p.Phe130Val)
c.631T>G (p.Phe211Val)
c.574T>G (p.Phe192Val)
c.*1741+16589A>C (n.*1741+16589A>C)
c.543T>G (n.543T>G)
c.136T>G (p.Phe46Val)
c.-69T>G (n.-69T>G)
5g.157471677T>ACA361972455ADAM19,NIPAL4c.446T>A (p.Phe149Tyr)
c.389T>A (p.Phe130Tyr)
c.632T>A (p.Phe211Tyr)
c.575T>A (p.Phe192Tyr)
c.*1741+16588A>T (n.*1741+16588A>T)
c.544T>A (n.544T>A)
c.137T>A (p.Phe46Tyr)
c.-68T>A (n.-68T>A)
5g.157471677T>CCA361972457ADAM19,NIPAL4c.446T>C (p.Phe149Ser)
c.389T>C (p.Phe130Ser)
c.632T>C (p.Phe211Ser)
c.575T>C (p.Phe192Ser)
c.*1741+16588A>G (n.*1741+16588A>G)
c.544T>C (n.544T>C)
c.137T>C (p.Phe46Ser)
c.-68T>C (n.-68T>C)
5g.157471677T>GCA361972456ADAM19,NIPAL4c.446T>G (p.Phe149Cys)
c.389T>G (p.Phe130Cys)
c.632T>G (p.Phe211Cys)
c.575T>G (p.Phe192Cys)
c.*1741+16588A>C (n.*1741+16588A>C)
c.544T>G (n.544T>G)
c.137T>G (p.Phe46Cys)
c.-68T>G (n.-68T>G)
5g.157471678C>ACA361972458ADAM19,NIPAL4c.447C>A (p.Phe149Leu)
c.390C>A (p.Phe130Leu)
c.633C>A (p.Phe211Leu)
c.576C>A (p.Phe192Leu)
c.*1741+16587G>T (n.*1741+16587G>T)
c.545C>A (n.545C>A)
c.138C>A (p.Phe46Leu)
c.-67C>A (n.-67C>A)
gnomAD v4
5g.157471678C>GCA361972459ADAM19,NIPAL4c.447C>G (p.Phe149Leu)
c.390C>G (p.Phe130Leu)
c.633C>G (p.Phe211Leu)
c.576C>G (p.Phe192Leu)
c.*1741+16587G>C (n.*1741+16587G>C)
c.545C>G (n.545C>G)
c.138C>G (p.Phe46Leu)
c.-67C>G (n.-67C>G)
5g.157471678C>TCA447431176ADAM19,NIPAL4c.447C>T (p.Phe149=)
c.390C>T (p.Phe130=)
c.633C>T (p.Phe211=)
c.576C>T (p.Phe192=)
c.*1741+16587G>A (n.*1741+16587G>A)
c.545C>T (n.545C>T)
c.138C>T (p.Phe46=)
c.-67C>T (n.-67C>T)
COSMIC COSMIC
5g.157471679C>ACA361972460ADAM19,NIPAL4c.448C>A (p.Leu150Met)
c.391C>A (p.Leu131Met)
c.634C>A (p.Leu212Met)
c.577C>A (p.Leu193Met)
c.*1741+16586G>T (n.*1741+16586G>T)
c.546C>A (n.546C>A)
c.139C>A (p.Leu47Met)
c.-66C>A (n.-66C>A)
gnomAD v4
5g.157471679C>GCA361972461ADAM19,NIPAL4c.448C>G (p.Leu150Val)
c.391C>G (p.Leu131Val)
c.634C>G (p.Leu212Val)
c.577C>G (p.Leu193Val)
c.*1741+16586G>C (n.*1741+16586G>C)
c.546C>G (n.546C>G)
c.139C>G (p.Leu47Val)
c.-66C>G (n.-66C>G)
5g.157471679C>TCA447431177ADAM19,NIPAL4c.448C>T (p.Leu150=)
c.391C>T (p.Leu131=)
c.634C>T (p.Leu212=)
c.577C>T (p.Leu193=)
c.*1741+16586G>A (n.*1741+16586G>A)
c.546C>T (n.546C>T)
c.139C>T (p.Leu47=)
c.-66C>T (n.-66C>T)
5g.157471680delCA2676216449ADAM19,NIPAL4c.449del (p.Leu150ArgfsTer5)
c.392del (p.Leu131ArgfsTer5)
c.635del (p.Leu212ArgfsTer5)
c.578del (p.Leu193ArgfsTer5)
c.*1741+16585del (n.*1741+16585del)
c.547del (n.547del)
c.140del (p.Leu47ArgfsTer5)
c.-65del (n.-65del)
gnomAD v4
5g.157471680T>ACA361972462ADAM19,NIPAL4c.449T>A (p.Leu150Gln)
c.392T>A (p.Leu131Gln)
c.635T>A (p.Leu212Gln)
c.578T>A (p.Leu193Gln)
c.*1741+16585A>T (n.*1741+16585A>T)
c.547T>A (n.547T>A)
c.140T>A (p.Leu47Gln)
c.-65T>A (n.-65T>A)
5g.157471680T>CCA361972463ADAM19,NIPAL4c.449T>C (p.Leu150Pro)
c.392T>C (p.Leu131Pro)
c.635T>C (p.Leu212Pro)
c.578T>C (p.Leu193Pro)
c.*1741+16585A>G (n.*1741+16585A>G)
c.547T>C (n.547T>C)
c.140T>C (p.Leu47Pro)
c.-65T>C (n.-65T>C)
gnomAD v4
5g.157471680T>GCA361972464ADAM19,NIPAL4c.449T>G (p.Leu150Arg)
c.392T>G (p.Leu131Arg)
c.635T>G (p.Leu212Arg)
c.578T>G (p.Leu193Arg)
c.*1741+16585A>C (n.*1741+16585A>C)
c.547T>G (n.547T>G)
c.140T>G (p.Leu47Arg)
c.-65T>G (n.-65T>G)
5g.157471681G>ACA447431178ADAM19,NIPAL4c.450G>A (p.Leu150=)
c.393G>A (p.Leu131=)
c.636G>A (p.Leu212=)
c.579G>A (p.Leu193=)
c.*1741+16584C>T (n.*1741+16584C>T)
c.548G>A (n.548G>A)
c.141G>A (p.Leu47=)
c.-64G>A (n.-64G>A)
gnomAD v4
5g.157471681G>CCA447431179ADAM19,NIPAL4c.450G>C (p.Leu150=)
c.393G>C (p.Leu131=)
c.636G>C (p.Leu212=)
c.579G>C (p.Leu193=)
c.*1741+16584C>G (n.*1741+16584C>G)
c.548G>C (n.548G>C)
c.141G>C (p.Leu47=)
c.-64G>C (n.-64G>C)
gnomAD v4
5g.157471681G=CA1594187360ADAM19,NIPAL4c.450G= (p.Leu150=)
c.393G= (p.Leu131=)
c.636G= (p.Leu212=)
c.579G= (p.Leu193=)
c.*1741+16584C= (n.*1741+16584C=)
c.548G= (n.548G=)
c.141G= (p.Leu47=)
c.-64G= (n.-64G=)
5g.157471681G>TCA447431180ADAM19,NIPAL4c.450G>T (p.Leu150=)
c.393G>T (p.Leu131=)
c.636G>T (p.Leu212=)
c.579G>T (p.Leu193=)
c.*1741+16584C>A (n.*1741+16584C>A)
c.548G>T (n.548G>T)
c.141G>T (p.Leu47=)
c.-64G>T (n.-64G>T)
dbSNP gnomAD v4
5g.157471682delCA2676216450ADAM19,NIPAL4c.451del (p.Arg151GlyfsTer4)
c.394del (p.Arg132GlyfsTer4)
c.637del (p.Arg213GlyfsTer4)
c.580del (p.Arg194GlyfsTer4)
c.*1741+16583del (n.*1741+16583del)
c.549del (n.549del)
c.142del (p.Arg48GlyfsTer4)
c.-63del (n.-63del)
gnomAD v4
5g.157471682A=CA1594187367ADAM19,NIPAL4c.451A= (p.Arg151=)
c.394A= (p.Arg132=)
c.637A= (p.Arg213=)
c.580A= (p.Arg194=)
c.*1741+16583T= (n.*1741+16583T=)
c.549A= (n.549A=)
c.142A= (p.Arg48=)
c.-63A= (n.-63A=)
5g.157471682A>CCA447431181ADAM19,NIPAL4c.451A>C (p.Arg151=)
c.394A>C (p.Arg132=)
c.637A>C (p.Arg213=)
c.580A>C (p.Arg194=)
c.*1741+16583T>G (n.*1741+16583T>G)
c.549A>C (n.549A>C)
c.142A>C (p.Arg48=)
c.-63A>C (n.-63A>C)
gnomAD v4
5g.157471682A>GCA3534658ADAM19,NIPAL4c.451A>G (p.Arg151Gly)
c.394A>G (p.Arg132Gly)
c.637A>G (p.Arg213Gly)
c.580A>G (p.Arg194Gly)
c.*1741+16583T>C (n.*1741+16583T>C)
c.549A>G (n.549A>G)
c.142A>G (p.Arg48Gly)
c.-63A>G (n.-63A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.157471682A>TCA361972465ADAM19,NIPAL4c.451A>T (p.Arg151Trp)
c.394A>T (p.Arg132Trp)
c.637A>T (p.Arg213Trp)
c.580A>T (p.Arg194Trp)
c.*1741+16583T>A (n.*1741+16583T>A)
c.549A>T (n.549A>T)
c.142A>T (p.Arg48Trp)
c.-63A>T (n.-63A>T)
dbSNP gnomAD v4
5g.157471683G>ACA361972468ADAM19,NIPAL4c.452G>A (p.Arg151Lys)
c.395G>A (p.Arg132Lys)
c.638G>A (p.Arg213Lys)
c.581G>A (p.Arg194Lys)
c.*1741+16582C>T (n.*1741+16582C>T)
c.550G>A (n.550G>A)
c.143G>A (p.Arg48Lys)
c.-62G>A (n.-62G>A)
gnomAD v4
5g.157471683G>CCA361972466ADAM19,NIPAL4c.452G>C (p.Arg151Thr)
c.395G>C (p.Arg132Thr)
c.638G>C (p.Arg213Thr)
c.581G>C (p.Arg194Thr)
c.*1741+16582C>G (n.*1741+16582C>G)
c.550G>C (n.550G>C)
c.143G>C (p.Arg48Thr)
c.-62G>C (n.-62G>C)
5g.157471683G>TCA361972467ADAM19,NIPAL4c.452G>T (p.Arg151Met)
c.395G>T (p.Arg132Met)
c.638G>T (p.Arg213Met)
c.581G>T (p.Arg194Met)
c.*1741+16582C>A (n.*1741+16582C>A)
c.550G>T (n.550G>T)
c.143G>T (p.Arg48Met)
c.-62G>T (n.-62G>T)
5g.157471683_157471684insCACA2676216451ADAM19,NIPAL4c.452_453insCA (p.Arg151SerfsTer5)
c.395_396insCA (p.Arg132SerfsTer5)
c.638_639insCA (p.Arg213SerfsTer5)
c.581_582insCA (p.Arg194SerfsTer5)
c.*1741+16581_*1741+16582insTG (n.*1741+16581_*1741+16582insTG)
c.550_551insCA (n.550_551insCA)
c.143_144insCA (p.Arg48SerfsTer5)
c.-62_-61insCA (n.-62_-61insCA)
gnomAD v4
5g.157471684G>ACA447431182ADAM19,NIPAL4c.453G>A (p.Arg151=)
c.396G>A (p.Arg132=)
c.639G>A (p.Arg213=)
c.582G>A (p.Arg194=)
c.*1741+16581C>T (n.*1741+16581C>T)
c.551G>A (n.551G>A)
c.144G>A (p.Arg48=)
c.-61G>A (n.-61G>A)
ClinVar dbSNP gnomAD v4
5g.157471684G>CCA361972469ADAM19,NIPAL4c.453G>C (p.Arg151Ser)
c.396G>C (p.Arg132Ser)
c.639G>C (p.Arg213Ser)
c.582G>C (p.Arg194Ser)
c.*1741+16581C>G (n.*1741+16581C>G)
c.551G>C (n.551G>C)
c.144G>C (p.Arg48Ser)
c.-61G>C (n.-61G>C)
5g.157471684G>TCA361972470ADAM19,NIPAL4c.453G>T (p.Arg151Ser)
c.396G>T (p.Arg132Ser)
c.639G>T (p.Arg213Ser)
c.582G>T (p.Arg194Ser)
c.*1741+16581C>A (n.*1741+16581C>A)
c.551G>T (n.551G>T)
c.144G>T (p.Arg48Ser)
c.-61G>T (n.-61G>T)
5g.157471685G>ACA361972471ADAM19,NIPAL4c.454G>A (p.Glu152Lys)
c.397G>A (p.Glu133Lys)
c.640G>A (p.Glu214Lys)
c.583G>A (p.Glu195Lys)
c.*1741+16580C>T (n.*1741+16580C>T)
c.552G>A (n.552G>A)
c.145G>A (p.Glu49Lys)
c.-60G>A (n.-60G>A)
5g.157471685G>CCA361972472ADAM19,NIPAL4c.454G>C (p.Glu152Gln)
c.397G>C (p.Glu133Gln)
c.640G>C (p.Glu214Gln)
c.583G>C (p.Glu195Gln)
c.*1741+16580C>G (n.*1741+16580C>G)
c.552G>C (n.552G>C)
c.145G>C (p.Glu49Gln)
c.-60G>C (n.-60G>C)
5g.157471685G>TCA361972473ADAM19,NIPAL4c.454G>T (p.Glu152Ter)
c.397G>T (p.Glu133Ter)
c.640G>T (p.Glu214Ter)
c.583G>T (p.Glu195Ter)
c.*1741+16580C>A (n.*1741+16580C>A)
c.552G>T (n.552G>T)
c.145G>T (p.Glu49Ter)
c.-60G>T (n.-60G>T)
5g.157471686A=CA1594187373ADAM19,NIPAL4c.455A= (p.Glu152=)
c.398A= (p.Glu133=)
c.641A= (p.Glu214=)
c.584A= (p.Glu195=)
c.*1741+16579T= (n.*1741+16579T=)
c.553A= (n.553A=)
c.146A= (p.Glu49=)
c.-59A= (n.-59A=)
5g.157471686A>CCA361972474ADAM19,NIPAL4c.455A>C (p.Glu152Ala)
c.398A>C (p.Glu133Ala)
c.641A>C (p.Glu214Ala)
c.584A>C (p.Glu195Ala)
c.*1741+16579T>G (n.*1741+16579T>G)
c.553A>C (n.553A>C)
c.146A>C (p.Glu49Ala)
c.-59A>C (n.-59A>C)
5g.157471686A>GCA361972475ADAM19,NIPAL4c.455A>G (p.Glu152Gly)
c.398A>G (p.Glu133Gly)
c.641A>G (p.Glu214Gly)
c.584A>G (p.Glu195Gly)
c.*1741+16579T>C (n.*1741+16579T>C)
c.553A>G (n.553A>G)
c.146A>G (p.Glu49Gly)
c.-59A>G (n.-59A>G)
dbSNP gnomAD v2 gnomAD v4
5g.157471686A>TCA361972476ADAM19,NIPAL4c.455A>T (p.Glu152Val)
c.398A>T (p.Glu133Val)
c.641A>T (p.Glu214Val)
c.584A>T (p.Glu195Val)
c.*1741+16579T>A (n.*1741+16579T>A)
c.553A>T (n.553A>T)
c.146A>T (p.Glu49Val)
c.-59A>T (n.-59A>T)
5g.157471687G>ACA447431186ADAM19,NIPAL4c.456G>A (p.Glu152=)
c.399G>A (p.Glu133=)
c.642G>A (p.Glu214=)
c.585G>A (p.Glu195=)
c.*1741+16578C>T (n.*1741+16578C>T)
c.554G>A (n.554G>A)
c.147G>A (p.Glu49=)
c.-58G>A (n.-58G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.157471687G>CCA361972477ADAM19,NIPAL4c.456G>C (p.Glu152Asp)
c.399G>C (p.Glu133Asp)
c.642G>C (p.Glu214Asp)
c.585G>C (p.Glu195Asp)
c.*1741+16578C>G (n.*1741+16578C>G)
c.554G>C (n.554G>C)
c.147G>C (p.Glu49Asp)
c.-58G>C (n.-58G>C)
gnomAD v4
5g.157471687G=CA1594187378ADAM19,NIPAL4c.456G= (p.Glu152=)
c.399G= (p.Glu133=)
c.642G= (p.Glu214=)
c.585G= (p.Glu195=)
c.*1741+16578C= (n.*1741+16578C=)
c.554G= (n.554G=)
c.147G= (p.Glu49=)
c.-58G= (n.-58G=)
5g.157471687G>TCA361972478ADAM19,NIPAL4c.456G>T (p.Glu152Asp)
c.399G>T (p.Glu133Asp)
c.642G>T (p.Glu214Asp)
c.585G>T (p.Glu195Asp)
c.*1741+16578C>A (n.*1741+16578C>A)
c.554G>T (n.554G>T)
c.147G>T (p.Glu49Asp)
c.-58G>T (n.-58G>T)
gnomAD v4
5g.157471687dupCA2960294301ADAM19,NIPAL4c.456dup (p.Ser153GlufsTer26)
c.399dup (p.Ser134GlufsTer26)
c.642dup (p.Ser215GlufsTer26)
c.585dup (p.Ser196GlufsTer26)
c.*1741+16578dup (n.*1741+16578dup)
c.554dup (n.554dup)
c.147dup (p.Ser50GlufsTer26)
c.-58dup (n.-58dup)
5g.157471688A=CA1594187381ADAM19,NIPAL4c.457A= (p.Ser153=)
c.400A= (p.Ser134=)
c.643A= (p.Ser215=)
c.586A= (p.Ser196=)
c.*1741+16577T= (n.*1741+16577T=)
c.555A= (n.555A=)
c.148A= (p.Ser50=)
c.-57A= (n.-57A=)
5g.157471688A>CCA361972481ADAM19,NIPAL4c.457A>C (p.Ser153Arg)
c.400A>C (p.Ser134Arg)
c.643A>C (p.Ser215Arg)
c.586A>C (p.Ser196Arg)
c.*1741+16577T>G (n.*1741+16577T>G)
c.555A>C (n.555A>C)
c.148A>C (p.Ser50Arg)
c.-57A>C (n.-57A>C)
5g.157471688A>GCA361972480ADAM19,NIPAL4c.457A>G (p.Ser153Gly)
c.400A>G (p.Ser134Gly)
c.643A>G (p.Ser215Gly)
c.586A>G (p.Ser196Gly)
c.*1741+16577T>C (n.*1741+16577T>C)
c.555A>G (n.555A>G)
c.148A>G (p.Ser50Gly)
c.-57A>G (n.-57A>G)

Number of alleles fetched