Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.157471775G>A | CA361972754 | ADAM19,NIPAL4 | c.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 |
5 | g.157471775G>C | CA361972755 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471775G= | CA1594187607 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471775G>T | CA3534670 | ADAM19,NIPAL4 | c.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 |
5 | g.157471776T>A | CA361972758 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471776T>C | CA361972757 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471776T>G | CA361972756 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471777C>A | CA447431381 | ADAM19,NIPAL4 | c.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 |
5 | g.157471777C= | CA1594187618 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471777C>G | CA447431382 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471777C>T | CA447431384 | ADAM19,NIPAL4 | c.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 |
5 | g.157471778A= | CA1594187624 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471778A>C | CA361972759 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471778A>G | CA361972760 | ADAM19,NIPAL4 | c.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 |
5 | g.157471778A>T | CA361972761 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471779C>A | CA361972762 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471779C>G | CA361972763 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471779C>T | CA361972764 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471780T>A | CA447431391 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471780T>C | CA447431392 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471780T>G | CA447431393 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471781A= | CA1594187628 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471781A>C | CA361972765 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471781A>G | CA3534671 | ADAM19,NIPAL4 | c.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 |
5 | g.157471781A>T | CA361972766 | ADAM19,NIPAL4 | c.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 |
5 | g.157471782C>A | CA361972768 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471782C= | CA1594187630 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471782C>G | CA361972769 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471782C>T | CA361972767 | ADAM19,NIPAL4 | c.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 |
5 | g.157471783C>A | CA447431396 | ADAM19,NIPAL4 | c.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 |
5 | g.157471783C>G | CA447431398 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471783C>T | CA447431399 | ADAM19,NIPAL4 | c.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 |
5 | g.157471784A>C | CA361972770 | ADAM19,NIPAL4 | c.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 |
5 | g.157471784A>G | CA361972771 | ADAM19,NIPAL4 | c.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 |
5 | g.157471784A>T | CA361972772 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471785T>A | CA3534672 | ADAM19,NIPAL4 | c.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 |
5 | g.157471785T>C | CA3534673 | ADAM19,NIPAL4 | c.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 |
5 | g.157471785T>G | CA361972773 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471785T= | CA1594187632 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471786C>A | CA447431412 | ADAM19,NIPAL4 | c.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 |
5 | g.157471786C>G | CA361972774 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471786C>T | CA447431408 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471787A= | CA1594187637 | ADAM19,NIPAL4 | c.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=) | |
5 | g.157471787A>C | CA361972775 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471787A>G | CA3534674 | ADAM19,NIPAL4 | c.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 |
5 | g.157471787A>T | CA361972776 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471788T>A | CA130149340 | ADAM19,NIPAL4 | c.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 |
5 | g.157471788T>C | CA3534675 | ADAM19,NIPAL4 | c.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 |
5 | g.157471788T>G | CA361972777 | ADAM19,NIPAL4 | c.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) | |
5 | g.157471788T= | CA1594187643 | ADAM19,NIPAL4 | c.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=) |