| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 5 | g.157471789G>A | CA361972778 | ADAM19,NIPAL4 | c.558G>A (p.Met186Ile) c.501G>A (p.Met167Ile) c.744G>A (p.Met248Ile) c.687G>A (p.Met229Ile) c.*1741+16476C>T (n.*1741+16476C>T) c.656G>A (n.656G>A) c.249G>A (p.Met83Ile) c.45G>A (p.Met15Ile) | gnomAD v4 |
| 5 | g.157471789G>C | CA361972779 | ADAM19,NIPAL4 | c.558G>C (p.Met186Ile) c.501G>C (p.Met167Ile) c.744G>C (p.Met248Ile) c.687G>C (p.Met229Ile) c.*1741+16476C>G (n.*1741+16476C>G) c.656G>C (n.656G>C) c.249G>C (p.Met83Ile) c.45G>C (p.Met15Ile) | gnomAD v4 |
| 5 | g.157471789G>T | CA361972780 | ADAM19,NIPAL4 | c.558G>T (p.Met186Ile) c.501G>T (p.Met167Ile) c.744G>T (p.Met248Ile) c.687G>T (p.Met229Ile) c.*1741+16476C>A (n.*1741+16476C>A) c.656G>T (n.656G>T) c.249G>T (p.Met83Ile) c.45G>T (p.Met15Ile) | gnomAD v4 |
| 5 | g.157471790G>A | CA361972781 | ADAM19,NIPAL4 | c.559G>A (p.Glu187Lys) c.502G>A (p.Glu168Lys) c.745G>A (p.Glu249Lys) c.688G>A (p.Glu230Lys) c.*1741+16475C>T (n.*1741+16475C>T) c.657G>A (n.657G>A) c.250G>A (p.Glu84Lys) c.46G>A (p.Glu16Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157471790G>C | CA361972782 | ADAM19,NIPAL4 | c.559G>C (p.Glu187Gln) c.502G>C (p.Glu168Gln) c.745G>C (p.Glu249Gln) c.688G>C (p.Glu230Gln) c.*1741+16475C>G (n.*1741+16475C>G) c.657G>C (n.657G>C) c.250G>C (p.Glu84Gln) c.46G>C (p.Glu16Gln) | dbSNP |
| 5 | g.157471790G= | CA1594187648 | ADAM19,NIPAL4 | c.559G= (p.Glu187=) c.502G= (p.Glu168=) c.745G= (p.Glu249=) c.688G= (p.Glu230=) c.*1741+16475C= (n.*1741+16475C=) c.657G= (n.657G=) c.250G= (p.Glu84=) c.46G= (p.Glu16=) | |
| 5 | g.157471790G>T | CA361972783 | ADAM19,NIPAL4 | c.559G>T (p.Glu187Ter) c.502G>T (p.Glu168Ter) c.745G>T (p.Glu249Ter) c.688G>T (p.Glu230Ter) c.*1741+16475C>A (n.*1741+16475C>A) c.657G>T (n.657G>T) c.250G>T (p.Glu84Ter) c.46G>T (p.Glu16Ter) | dbSNP gnomAD v4 |
| 5 | g.157471791A>C | CA361972784 | ADAM19,NIPAL4 | c.560A>C (p.Glu187Ala) c.503A>C (p.Glu168Ala) c.746A>C (p.Glu249Ala) c.689A>C (p.Glu230Ala) c.*1741+16474T>G (n.*1741+16474T>G) c.658A>C (n.658A>C) c.251A>C (p.Glu84Ala) c.47A>C (p.Glu16Ala) | |
| 5 | g.157471791A>G | CA361972785 | ADAM19,NIPAL4 | c.560A>G (p.Glu187Gly) c.503A>G (p.Glu168Gly) c.746A>G (p.Glu249Gly) c.689A>G (p.Glu230Gly) c.*1741+16474T>C (n.*1741+16474T>C) c.658A>G (n.658A>G) c.251A>G (p.Glu84Gly) c.47A>G (p.Glu16Gly) | gnomAD v4 |
| 5 | g.157471791A>T | CA361972786 | ADAM19,NIPAL4 | c.560A>T (p.Glu187Val) c.503A>T (p.Glu168Val) c.746A>T (p.Glu249Val) c.689A>T (p.Glu230Val) c.*1741+16474T>A (n.*1741+16474T>A) c.658A>T (n.658A>T) c.251A>T (p.Glu84Val) c.47A>T (p.Glu16Val) | |
| 5 | g.157471792G>A | CA447431418 | ADAM19,NIPAL4 | c.561G>A (p.Glu187=) c.504G>A (p.Glu168=) c.747G>A (p.Glu249=) c.690G>A (p.Glu230=) c.*1741+16473C>T (n.*1741+16473C>T) c.659G>A (n.659G>A) c.252G>A (p.Glu84=) c.48G>A (p.Glu16=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.157471792G>C | CA361972787 | ADAM19,NIPAL4 | c.561G>C (p.Glu187Asp) c.504G>C (p.Glu168Asp) c.747G>C (p.Glu249Asp) c.690G>C (p.Glu230Asp) c.*1741+16473C>G (n.*1741+16473C>G) c.659G>C (n.659G>C) c.252G>C (p.Glu84Asp) c.48G>C (p.Glu16Asp) | |
| 5 | g.157471792G>T | CA361972788 | ADAM19,NIPAL4 | c.561G>T (p.Glu187Asp) c.504G>T (p.Glu168Asp) c.747G>T (p.Glu249Asp) c.690G>T (p.Glu230Asp) c.*1741+16473C>A (n.*1741+16473C>A) c.659G>T (n.659G>T) c.252G>T (p.Glu84Asp) c.48G>T (p.Glu16Asp) | gnomAD v4 |
| 5 | g.157471793A= | CA1594187654 | ADAM19,NIPAL4 | c.562A= (p.Met188=) c.505A= (p.Met169=) c.748A= (p.Met250=) c.691A= (p.Met231=) c.*1741+16472T= (n.*1741+16472T=) c.660A= (n.660A=) c.253A= (p.Met85=) c.49A= (p.Met17=) | |
| 5 | g.157471793A>C | CA361972789 | ADAM19,NIPAL4 | c.562A>C (p.Met188Leu) c.505A>C (p.Met169Leu) c.748A>C (p.Met250Leu) c.691A>C (p.Met231Leu) c.*1741+16472T>G (n.*1741+16472T>G) c.660A>C (n.660A>C) c.253A>C (p.Met85Leu) c.49A>C (p.Met17Leu) | |
| 5 | g.157471793A>G | CA361972791 | ADAM19,NIPAL4 | c.562A>G (p.Met188Val) c.505A>G (p.Met169Val) c.748A>G (p.Met250Val) c.691A>G (p.Met231Val) c.*1741+16472T>C (n.*1741+16472T>C) c.660A>G (n.660A>G) c.253A>G (p.Met85Val) c.49A>G (p.Met17Val) | |
| 5 | g.157471793A>T | CA361972790 | ADAM19,NIPAL4 | c.562A>T (p.Met188Leu) c.505A>T (p.Met169Leu) c.748A>T (p.Met250Leu) c.691A>T (p.Met231Leu) c.*1741+16472T>A (n.*1741+16472T>A) c.660A>T (n.660A>T) c.253A>T (p.Met85Leu) c.49A>T (p.Met17Leu) | dbSNP gnomAD v4 |
| 5 | g.157471794T>A | CA361972792 | ADAM19,NIPAL4 | c.563T>A (p.Met188Lys) c.506T>A (p.Met169Lys) c.749T>A (p.Met250Lys) c.692T>A (p.Met231Lys) c.*1741+16471A>T (n.*1741+16471A>T) c.661T>A (n.661T>A) c.254T>A (p.Met85Lys) c.50T>A (p.Met17Lys) | |
| 5 | g.157471794T>C | CA361972793 | ADAM19,NIPAL4 | c.563T>C (p.Met188Thr) c.506T>C (p.Met169Thr) c.749T>C (p.Met250Thr) c.692T>C (p.Met231Thr) c.*1741+16471A>G (n.*1741+16471A>G) c.661T>C (n.661T>C) c.254T>C (p.Met85Thr) c.50T>C (p.Met17Thr) | ClinVar |
| 5 | g.157471794T>G | CA361972794 | ADAM19,NIPAL4 | c.563T>G (p.Met188Arg) c.506T>G (p.Met169Arg) c.749T>G (p.Met250Arg) c.692T>G (p.Met231Arg) c.*1741+16471A>C (n.*1741+16471A>C) c.661T>G (n.661T>G) c.254T>G (p.Met85Arg) c.50T>G (p.Met17Arg) | |
| 5 | g.157471794dup | CA2960294304 | ADAM19,NIPAL4 | c.563dup (p.Met188IlefsTer?) c.506dup (p.Met169IlefsTer?) c.749dup (p.Met250IlefsTer?) c.692dup (p.Met231IlefsTer?) c.*1741+16471dup (n.*1741+16471dup) c.661dup (n.661dup) c.254dup (p.Met85IlefsTer?) c.50dup (p.Met17IlefsTer?) | |
| 5 | g.157471795G>A | CA361972795 | ADAM19,NIPAL4 | c.564G>A (p.Met188Ile) c.507G>A (p.Met169Ile) c.750G>A (p.Met250Ile) c.693G>A (p.Met231Ile) c.*1741+16470C>T (n.*1741+16470C>T) c.662G>A (n.662G>A) c.255G>A (p.Met85Ile) c.51G>A (p.Met17Ile) | |
| 5 | g.157471795G>C | CA361972796 | ADAM19,NIPAL4 | c.564G>C (p.Met188Ile) c.507G>C (p.Met169Ile) c.750G>C (p.Met250Ile) c.693G>C (p.Met231Ile) c.*1741+16470C>G (n.*1741+16470C>G) c.662G>C (n.662G>C) c.255G>C (p.Met85Ile) c.51G>C (p.Met17Ile) | |
| 5 | g.157471795G>T | CA361972797 | ADAM19,NIPAL4 | c.564G>T (p.Met188Ile) c.507G>T (p.Met169Ile) c.750G>T (p.Met250Ile) c.693G>T (p.Met231Ile) c.*1741+16470C>A (n.*1741+16470C>A) c.662G>T (n.662G>T) c.255G>T (p.Met85Ile) c.51G>T (p.Met17Ile) | gnomAD v4 |
| 5 | g.157471796G>A | CA361972798 | ADAM19,NIPAL4 | c.565G>A (p.Ala189Thr) c.508G>A (p.Ala170Thr) c.751G>A (p.Ala251Thr) c.694G>A (p.Ala232Thr) c.*1741+16469C>T (n.*1741+16469C>T) c.663G>A (n.663G>A) c.256G>A (p.Ala86Thr) c.52G>A (p.Ala18Thr) |