Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.157471775G>ACA361972754ADAM19,NIPAL4c.544G>A (p.Val182Ile)
c.487G>A (p.Val163Ile)
c.730G>A (p.Val244Ile)
c.673G>A (p.Val225Ile)
c.*1741+16490C>T (n.*1741+16490C>T)
c.642G>A (n.642G>A)
c.235G>A (p.Val79Ile)
c.31G>A (p.Val11Ile)
gnomAD v4
5g.157471775G>CCA361972755ADAM19,NIPAL4c.544G>C (p.Val182Leu)
c.487G>C (p.Val163Leu)
c.730G>C (p.Val244Leu)
c.673G>C (p.Val225Leu)
c.*1741+16490C>G (n.*1741+16490C>G)
c.642G>C (n.642G>C)
c.235G>C (p.Val79Leu)
c.31G>C (p.Val11Leu)
5g.157471775G=CA1594187607ADAM19,NIPAL4c.544G= (p.Val182=)
c.487G= (p.Val163=)
c.730G= (p.Val244=)
c.673G= (p.Val225=)
c.*1741+16490C= (n.*1741+16490C=)
c.642G= (n.642G=)
c.235G= (p.Val79=)
c.31G= (p.Val11=)
5g.157471775G>TCA3534670ADAM19,NIPAL4c.544G>T (p.Val182Phe)
c.487G>T (p.Val163Phe)
c.730G>T (p.Val244Phe)
c.673G>T (p.Val225Phe)
c.*1741+16490C>A (n.*1741+16490C>A)
c.642G>T (n.642G>T)
c.235G>T (p.Val79Phe)
c.31G>T (p.Val11Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.157471776T>ACA361972758ADAM19,NIPAL4c.545T>A (p.Val182Asp)
c.488T>A (p.Val163Asp)
c.731T>A (p.Val244Asp)
c.674T>A (p.Val225Asp)
c.*1741+16489A>T (n.*1741+16489A>T)
c.643T>A (n.643T>A)
c.236T>A (p.Val79Asp)
c.32T>A (p.Val11Asp)
5g.157471776T>CCA361972757ADAM19,NIPAL4c.545T>C (p.Val182Ala)
c.488T>C (p.Val163Ala)
c.731T>C (p.Val244Ala)
c.674T>C (p.Val225Ala)
c.*1741+16489A>G (n.*1741+16489A>G)
c.643T>C (n.643T>C)
c.236T>C (p.Val79Ala)
c.32T>C (p.Val11Ala)
5g.157471776T>GCA361972756ADAM19,NIPAL4c.545T>G (p.Val182Gly)
c.488T>G (p.Val163Gly)
c.731T>G (p.Val244Gly)
c.674T>G (p.Val225Gly)
c.*1741+16489A>C (n.*1741+16489A>C)
c.643T>G (n.643T>G)
c.236T>G (p.Val79Gly)
c.32T>G (p.Val11Gly)
5g.157471777C>ACA447431381ADAM19,NIPAL4c.546C>A (p.Val182=)
c.489C>A (p.Val163=)
c.732C>A (p.Val244=)
c.675C>A (p.Val225=)
c.*1741+16488G>T (n.*1741+16488G>T)
c.644C>A (n.644C>A)
c.237C>A (p.Val79=)
c.33C>A (p.Val11=)
gnomAD v4
5g.157471777C=CA1594187618ADAM19,NIPAL4c.546C= (p.Val182=)
c.489C= (p.Val163=)
c.732C= (p.Val244=)
c.675C= (p.Val225=)
c.*1741+16488G= (n.*1741+16488G=)
c.644C= (n.644C=)
c.237C= (p.Val79=)
c.33C= (p.Val11=)
5g.157471777C>GCA447431382ADAM19,NIPAL4c.546C>G (p.Val182=)
c.489C>G (p.Val163=)
c.732C>G (p.Val244=)
c.675C>G (p.Val225=)
c.*1741+16488G>C (n.*1741+16488G>C)
c.644C>G (n.644C>G)
c.237C>G (p.Val79=)
c.33C>G (p.Val11=)
5g.157471777C>TCA447431384ADAM19,NIPAL4c.546C>T (p.Val182=)
c.489C>T (p.Val163=)
c.732C>T (p.Val244=)
c.675C>T (p.Val225=)
c.*1741+16488G>A (n.*1741+16488G>A)
c.644C>T (n.644C>T)
c.237C>T (p.Val79=)
c.33C>T (p.Val11=)
dbSNP
5g.157471778A=CA1594187624ADAM19,NIPAL4c.547A= (p.Thr183=)
c.490A= (p.Thr164=)
c.733A= (p.Thr245=)
c.676A= (p.Thr226=)
c.*1741+16487T= (n.*1741+16487T=)
c.645A= (n.645A=)
c.238A= (p.Thr80=)
c.34A= (p.Thr12=)
5g.157471778A>CCA361972759ADAM19,NIPAL4c.547A>C (p.Thr183Pro)
c.490A>C (p.Thr164Pro)
c.733A>C (p.Thr245Pro)
c.676A>C (p.Thr226Pro)
c.*1741+16487T>G (n.*1741+16487T>G)
c.645A>C (n.645A>C)
c.238A>C (p.Thr80Pro)
c.34A>C (p.Thr12Pro)
5g.157471778A>GCA361972760ADAM19,NIPAL4c.547A>G (p.Thr183Ala)
c.490A>G (p.Thr164Ala)
c.733A>G (p.Thr245Ala)
c.676A>G (p.Thr226Ala)
c.*1741+16487T>C (n.*1741+16487T>C)
c.645A>G (n.645A>G)
c.238A>G (p.Thr80Ala)
c.34A>G (p.Thr12Ala)
dbSNP
5g.157471778A>TCA361972761ADAM19,NIPAL4c.547A>T (p.Thr183Ser)
c.490A>T (p.Thr164Ser)
c.733A>T (p.Thr245Ser)
c.676A>T (p.Thr226Ser)
c.*1741+16487T>A (n.*1741+16487T>A)
c.645A>T (n.645A>T)
c.238A>T (p.Thr80Ser)
c.34A>T (p.Thr12Ser)
5g.157471779C>ACA361972762ADAM19,NIPAL4c.548C>A (p.Thr183Asn)
c.491C>A (p.Thr164Asn)
c.734C>A (p.Thr245Asn)
c.677C>A (p.Thr226Asn)
c.*1741+16486G>T (n.*1741+16486G>T)
c.646C>A (n.646C>A)
c.239C>A (p.Thr80Asn)
c.35C>A (p.Thr12Asn)
5g.157471779C>GCA361972763ADAM19,NIPAL4c.548C>G (p.Thr183Ser)
c.491C>G (p.Thr164Ser)
c.734C>G (p.Thr245Ser)
c.677C>G (p.Thr226Ser)
c.*1741+16486G>C (n.*1741+16486G>C)
c.646C>G (n.646C>G)
c.239C>G (p.Thr80Ser)
c.35C>G (p.Thr12Ser)
5g.157471779C>TCA361972764ADAM19,NIPAL4c.548C>T (p.Thr183Ile)
c.491C>T (p.Thr164Ile)
c.734C>T (p.Thr245Ile)
c.677C>T (p.Thr226Ile)
c.*1741+16486G>A (n.*1741+16486G>A)
c.646C>T (n.646C>T)
c.239C>T (p.Thr80Ile)
c.35C>T (p.Thr12Ile)
5g.157471780T>ACA447431391ADAM19,NIPAL4c.549T>A (p.Thr183=)
c.492T>A (p.Thr164=)
c.735T>A (p.Thr245=)
c.678T>A (p.Thr226=)
c.*1741+16485A>T (n.*1741+16485A>T)
c.647T>A (n.647T>A)
c.240T>A (p.Thr80=)
c.36T>A (p.Thr12=)
5g.157471780T>CCA447431392ADAM19,NIPAL4c.549T>C (p.Thr183=)
c.492T>C (p.Thr164=)
c.735T>C (p.Thr245=)
c.678T>C (p.Thr226=)
c.*1741+16485A>G (n.*1741+16485A>G)
c.647T>C (n.647T>C)
c.240T>C (p.Thr80=)
c.36T>C (p.Thr12=)
5g.157471780T>GCA447431393ADAM19,NIPAL4c.549T>G (p.Thr183=)
c.492T>G (p.Thr164=)
c.735T>G (p.Thr245=)
c.678T>G (p.Thr226=)
c.*1741+16485A>C (n.*1741+16485A>C)
c.647T>G (n.647T>G)
c.240T>G (p.Thr80=)
c.36T>G (p.Thr12=)
5g.157471781A=CA1594187628ADAM19,NIPAL4c.550A= (p.Thr184=)
c.493A= (p.Thr165=)
c.736A= (p.Thr246=)
c.679A= (p.Thr227=)
c.*1741+16484T= (n.*1741+16484T=)
c.648A= (n.648A=)
c.241A= (p.Thr81=)
c.37A= (p.Thr13=)
5g.157471781A>CCA361972765ADAM19,NIPAL4c.550A>C (p.Thr184Pro)
c.493A>C (p.Thr165Pro)
c.736A>C (p.Thr246Pro)
c.679A>C (p.Thr227Pro)
c.*1741+16484T>G (n.*1741+16484T>G)
c.648A>C (n.648A>C)
c.241A>C (p.Thr81Pro)
c.37A>C (p.Thr13Pro)
5g.157471781A>GCA3534671ADAM19,NIPAL4c.550A>G (p.Thr184Ala)
c.493A>G (p.Thr165Ala)
c.736A>G (p.Thr246Ala)
c.679A>G (p.Thr227Ala)
c.*1741+16484T>C (n.*1741+16484T>C)
c.648A>G (n.648A>G)
c.241A>G (p.Thr81Ala)
c.37A>G (p.Thr13Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
5g.157471781A>TCA361972766ADAM19,NIPAL4c.550A>T (p.Thr184Ser)
c.493A>T (p.Thr165Ser)
c.736A>T (p.Thr246Ser)
c.679A>T (p.Thr227Ser)
c.*1741+16484T>A (n.*1741+16484T>A)
c.648A>T (n.648A>T)
c.241A>T (p.Thr81Ser)
c.37A>T (p.Thr13Ser)
COSMIC COSMIC
5g.157471782C>ACA361972768ADAM19,NIPAL4c.551C>A (p.Thr184Asn)
c.494C>A (p.Thr165Asn)
c.737C>A (p.Thr246Asn)
c.680C>A (p.Thr227Asn)
c.*1741+16483G>T (n.*1741+16483G>T)
c.649C>A (n.649C>A)
c.242C>A (p.Thr81Asn)
c.38C>A (p.Thr13Asn)
5g.157471782C=CA1594187630ADAM19,NIPAL4c.551C= (p.Thr184=)
c.494C= (p.Thr165=)
c.737C= (p.Thr246=)
c.680C= (p.Thr227=)
c.*1741+16483G= (n.*1741+16483G=)
c.649C= (n.649C=)
c.242C= (p.Thr81=)
c.38C= (p.Thr13=)
5g.157471782C>GCA361972769ADAM19,NIPAL4c.551C>G (p.Thr184Ser)
c.494C>G (p.Thr165Ser)
c.737C>G (p.Thr246Ser)
c.680C>G (p.Thr227Ser)
c.*1741+16483G>C (n.*1741+16483G>C)
c.649C>G (n.649C>G)
c.242C>G (p.Thr81Ser)
c.38C>G (p.Thr13Ser)
5g.157471782C>TCA361972767ADAM19,NIPAL4c.551C>T (p.Thr184Ile)
c.494C>T (p.Thr165Ile)
c.737C>T (p.Thr246Ile)
c.680C>T (p.Thr227Ile)
c.*1741+16483G>A (n.*1741+16483G>A)
c.649C>T (n.649C>T)
c.242C>T (p.Thr81Ile)
c.38C>T (p.Thr13Ile)
dbSNP gnomAD v2 gnomAD v4
5g.157471783C>ACA447431396ADAM19,NIPAL4c.552C>A (p.Thr184=)
c.495C>A (p.Thr165=)
c.738C>A (p.Thr246=)
c.681C>A (p.Thr227=)
c.*1741+16482G>T (n.*1741+16482G>T)
c.650C>A (n.650C>A)
c.243C>A (p.Thr81=)
c.39C>A (p.Thr13=)
gnomAD v4
5g.157471783C>GCA447431398ADAM19,NIPAL4c.552C>G (p.Thr184=)
c.495C>G (p.Thr165=)
c.738C>G (p.Thr246=)
c.681C>G (p.Thr227=)
c.*1741+16482G>C (n.*1741+16482G>C)
c.650C>G (n.650C>G)
c.243C>G (p.Thr81=)
c.39C>G (p.Thr13=)
5g.157471783C>TCA447431399ADAM19,NIPAL4c.552C>T (p.Thr184=)
c.495C>T (p.Thr165=)
c.738C>T (p.Thr246=)
c.681C>T (p.Thr227=)
c.*1741+16482G>A (n.*1741+16482G>A)
c.650C>T (n.650C>T)
c.243C>T (p.Thr81=)
c.39C>T (p.Thr13=)
gnomAD v4
5g.157471784A>CCA361972770ADAM19,NIPAL4c.553A>C (p.Ile185Leu)
c.496A>C (p.Ile166Leu)
c.739A>C (p.Ile247Leu)
c.682A>C (p.Ile228Leu)
c.*1741+16481T>G (n.*1741+16481T>G)
c.651A>C (n.651A>C)
c.244A>C (p.Ile82Leu)
c.40A>C (p.Ile14Leu)
gnomAD v4
5g.157471784A>GCA361972771ADAM19,NIPAL4c.553A>G (p.Ile185Val)
c.496A>G (p.Ile166Val)
c.739A>G (p.Ile247Val)
c.682A>G (p.Ile228Val)
c.*1741+16481T>C (n.*1741+16481T>C)
c.651A>G (n.651A>G)
c.244A>G (p.Ile82Val)
c.40A>G (p.Ile14Val)
gnomAD v4
5g.157471784A>TCA361972772ADAM19,NIPAL4c.553A>T (p.Ile185Phe)
c.496A>T (p.Ile166Phe)
c.739A>T (p.Ile247Phe)
c.682A>T (p.Ile228Phe)
c.*1741+16481T>A (n.*1741+16481T>A)
c.651A>T (n.651A>T)
c.244A>T (p.Ile82Phe)
c.40A>T (p.Ile14Phe)
5g.157471785T>ACA3534672ADAM19,NIPAL4c.554T>A (p.Ile185Asn)
c.497T>A (p.Ile166Asn)
c.740T>A (p.Ile247Asn)
c.683T>A (p.Ile228Asn)
c.*1741+16480A>T (n.*1741+16480A>T)
c.652T>A (n.652T>A)
c.245T>A (p.Ile82Asn)
c.41T>A (p.Ile14Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.157471785T>CCA3534673ADAM19,NIPAL4c.554T>C (p.Ile185Thr)
c.497T>C (p.Ile166Thr)
c.740T>C (p.Ile247Thr)
c.683T>C (p.Ile228Thr)
c.*1741+16480A>G (n.*1741+16480A>G)
c.652T>C (n.652T>C)
c.245T>C (p.Ile82Thr)
c.41T>C (p.Ile14Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.157471785T>GCA361972773ADAM19,NIPAL4c.554T>G (p.Ile185Ser)
c.497T>G (p.Ile166Ser)
c.740T>G (p.Ile247Ser)
c.683T>G (p.Ile228Ser)
c.*1741+16480A>C (n.*1741+16480A>C)
c.652T>G (n.652T>G)
c.245T>G (p.Ile82Ser)
c.41T>G (p.Ile14Ser)
5g.157471785T=CA1594187632ADAM19,NIPAL4c.554T= (p.Ile185=)
c.497T= (p.Ile166=)
c.740T= (p.Ile247=)
c.683T= (p.Ile228=)
c.*1741+16480A= (n.*1741+16480A=)
c.652T= (n.652T=)
c.245T= (p.Ile82=)
c.41T= (p.Ile14=)
5g.157471786C>ACA447431412ADAM19,NIPAL4c.555C>A (p.Ile185=)
c.498C>A (p.Ile166=)
c.741C>A (p.Ile247=)
c.684C>A (p.Ile228=)
c.*1741+16479G>T (n.*1741+16479G>T)
c.653C>A (n.653C>A)
c.246C>A (p.Ile82=)
c.42C>A (p.Ile14=)
gnomAD v4
5g.157471786C>GCA361972774ADAM19,NIPAL4c.555C>G (p.Ile185Met)
c.498C>G (p.Ile166Met)
c.741C>G (p.Ile247Met)
c.684C>G (p.Ile228Met)
c.*1741+16479G>C (n.*1741+16479G>C)
c.653C>G (n.653C>G)
c.246C>G (p.Ile82Met)
c.42C>G (p.Ile14Met)
5g.157471786C>TCA447431408ADAM19,NIPAL4c.555C>T (p.Ile185=)
c.498C>T (p.Ile166=)
c.741C>T (p.Ile247=)
c.684C>T (p.Ile228=)
c.*1741+16479G>A (n.*1741+16479G>A)
c.653C>T (n.653C>T)
c.246C>T (p.Ile82=)
c.42C>T (p.Ile14=)
5g.157471787A=CA1594187637ADAM19,NIPAL4c.556A= (p.Met186=)
c.499A= (p.Met167=)
c.742A= (p.Met248=)
c.685A= (p.Met229=)
c.*1741+16478T= (n.*1741+16478T=)
c.654A= (n.654A=)
c.247A= (p.Met83=)
c.43A= (p.Met15=)
5g.157471787A>CCA361972775ADAM19,NIPAL4c.556A>C (p.Met186Leu)
c.499A>C (p.Met167Leu)
c.742A>C (p.Met248Leu)
c.685A>C (p.Met229Leu)
c.*1741+16478T>G (n.*1741+16478T>G)
c.654A>C (n.654A>C)
c.247A>C (p.Met83Leu)
c.43A>C (p.Met15Leu)
5g.157471787A>GCA3534674ADAM19,NIPAL4c.556A>G (p.Met186Val)
c.499A>G (p.Met167Val)
c.742A>G (p.Met248Val)
c.685A>G (p.Met229Val)
c.*1741+16478T>C (n.*1741+16478T>C)
c.654A>G (n.654A>G)
c.247A>G (p.Met83Val)
c.43A>G (p.Met15Val)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.157471787A>TCA361972776ADAM19,NIPAL4c.556A>T (p.Met186Leu)
c.499A>T (p.Met167Leu)
c.742A>T (p.Met248Leu)
c.685A>T (p.Met229Leu)
c.*1741+16478T>A (n.*1741+16478T>A)
c.654A>T (n.654A>T)
c.247A>T (p.Met83Leu)
c.43A>T (p.Met15Leu)
5g.157471788T>ACA130149340ADAM19,NIPAL4c.557T>A (p.Met186Lys)
c.500T>A (p.Met167Lys)
c.743T>A (p.Met248Lys)
c.686T>A (p.Met229Lys)
c.*1741+16477A>T (n.*1741+16477A>T)
c.655T>A (n.655T>A)
c.248T>A (p.Met83Lys)
c.44T>A (p.Met15Lys)
dbSNP gnomAD v3 gnomAD v4
5g.157471788T>CCA3534675ADAM19,NIPAL4c.557T>C (p.Met186Thr)
c.500T>C (p.Met167Thr)
c.743T>C (p.Met248Thr)
c.686T>C (p.Met229Thr)
c.*1741+16477A>G (n.*1741+16477A>G)
c.655T>C (n.655T>C)
c.248T>C (p.Met83Thr)
c.44T>C (p.Met15Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.157471788T>GCA361972777ADAM19,NIPAL4c.557T>G (p.Met186Arg)
c.500T>G (p.Met167Arg)
c.743T>G (p.Met248Arg)
c.686T>G (p.Met229Arg)
c.*1741+16477A>C (n.*1741+16477A>C)
c.655T>G (n.655T>G)
c.248T>G (p.Met83Arg)
c.44T>G (p.Met15Arg)
5g.157471788T=CA1594187643ADAM19,NIPAL4c.557T= (p.Met186=)
c.500T= (p.Met167=)
c.743T= (p.Met248=)
c.686T= (p.Met229=)
c.*1741+16477A= (n.*1741+16477A=)
c.655T= (n.655T=)
c.248T= (p.Met83=)
c.44T= (p.Met15=)

Number of alleles fetched