| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 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) | |
| 5 | g.157471796G>C | CA361972799 | ADAM19,NIPAL4 | c.565G>C (p.Ala189Pro) c.508G>C (p.Ala170Pro) c.751G>C (p.Ala251Pro) c.694G>C (p.Ala232Pro) c.*1741+16469C>G (n.*1741+16469C>G) c.663G>C (n.663G>C) c.256G>C (p.Ala86Pro) c.52G>C (p.Ala18Pro) | |
| 5 | g.157471796G>T | CA361972800 | ADAM19,NIPAL4 | c.565G>T (p.Ala189Ser) c.508G>T (p.Ala170Ser) c.751G>T (p.Ala251Ser) c.694G>T (p.Ala232Ser) c.*1741+16469C>A (n.*1741+16469C>A) c.663G>T (n.663G>T) c.256G>T (p.Ala86Ser) c.52G>T (p.Ala18Ser) | gnomAD v4 |
| 5 | g.157471797C>A | CA361972803 | ADAM19,NIPAL4 | c.566C>A (p.Ala189Asp) c.509C>A (p.Ala170Asp) c.752C>A (p.Ala251Asp) c.695C>A (p.Ala232Asp) c.*1741+16468G>T (n.*1741+16468G>T) c.664C>A (n.664C>A) c.257C>A (p.Ala86Asp) c.53C>A (p.Ala18Asp) | gnomAD v4 |
| 5 | g.157471797C>G | CA361972802 | ADAM19,NIPAL4 | c.566C>G (p.Ala189Gly) c.509C>G (p.Ala170Gly) c.752C>G (p.Ala251Gly) c.695C>G (p.Ala232Gly) c.*1741+16468G>C (n.*1741+16468G>C) c.664C>G (n.664C>G) c.257C>G (p.Ala86Gly) c.53C>G (p.Ala18Gly) | |
| 5 | g.157471797C>T | CA361972801 | ADAM19,NIPAL4 | c.566C>T (p.Ala189Val) c.509C>T (p.Ala170Val) c.752C>T (p.Ala251Val) c.695C>T (p.Ala232Val) c.*1741+16468G>A (n.*1741+16468G>A) c.664C>T (n.664C>T) c.257C>T (p.Ala86Val) c.53C>T (p.Ala18Val) | |
| 5 | g.157471798T>A | CA447431433 | ADAM19,NIPAL4 | c.567T>A (p.Ala189=) c.510T>A (p.Ala170=) c.753T>A (p.Ala251=) c.696T>A (p.Ala232=) c.*1741+16467A>T (n.*1741+16467A>T) c.665T>A (n.665T>A) c.258T>A (p.Ala86=) c.54T>A (p.Ala18=) | |
| 5 | g.157471798T>C | CA447431435 | ADAM19,NIPAL4 | c.567T>C (p.Ala189=) c.510T>C (p.Ala170=) c.753T>C (p.Ala251=) c.696T>C (p.Ala232=) c.*1741+16467A>G (n.*1741+16467A>G) c.665T>C (n.665T>C) c.258T>C (p.Ala86=) c.54T>C (p.Ala18=) | |
| 5 | g.157471798T>G | CA447431436 | ADAM19,NIPAL4 | c.567T>G (p.Ala189=) c.510T>G (p.Ala170=) c.753T>G (p.Ala251=) c.696T>G (p.Ala232=) c.*1741+16467A>C (n.*1741+16467A>C) c.665T>G (n.665T>G) c.258T>G (p.Ala86=) c.54T>G (p.Ala18=) | |
| 5 | g.157471799T>A | CA361972804 | ADAM19,NIPAL4 | c.568T>A (p.Ser190Thr) c.511T>A (p.Ser171Thr) c.754T>A (p.Ser252Thr) c.697T>A (p.Ser233Thr) c.*1741+16466A>T (n.*1741+16466A>T) c.666T>A (n.666T>A) c.259T>A (p.Ser87Thr) c.55T>A (p.Ser19Thr) | |
| 5 | g.157471799T>C | CA361972805 | ADAM19,NIPAL4 | c.568T>C (p.Ser190Pro) c.511T>C (p.Ser171Pro) c.754T>C (p.Ser252Pro) c.697T>C (p.Ser233Pro) c.*1741+16466A>G (n.*1741+16466A>G) c.666T>C (n.666T>C) c.259T>C (p.Ser87Pro) c.55T>C (p.Ser19Pro) | gnomAD v4 |
| 5 | g.157471799T>G | CA361972806 | ADAM19,NIPAL4 | c.568T>G (p.Ser190Ala) c.511T>G (p.Ser171Ala) c.754T>G (p.Ser252Ala) c.697T>G (p.Ser233Ala) c.*1741+16466A>C (n.*1741+16466A>C) c.666T>G (n.666T>G) c.259T>G (p.Ser87Ala) c.55T>G (p.Ser19Ala) | |
| 5 | g.157471800C>A | CA361972807 | ADAM19,NIPAL4 | c.569C>A (p.Ser190Tyr) c.512C>A (p.Ser171Tyr) c.755C>A (p.Ser252Tyr) c.698C>A (p.Ser233Tyr) c.*1741+16465G>T (n.*1741+16465G>T) c.667C>A (n.667C>A) c.260C>A (p.Ser87Tyr) c.56C>A (p.Ser19Tyr) | gnomAD v4 |
| 5 | g.157471800C>G | CA361972808 | ADAM19,NIPAL4 | c.569C>G (p.Ser190Cys) c.512C>G (p.Ser171Cys) c.755C>G (p.Ser252Cys) c.698C>G (p.Ser233Cys) c.*1741+16465G>C (n.*1741+16465G>C) c.667C>G (n.667C>G) c.260C>G (p.Ser87Cys) c.56C>G (p.Ser19Cys) | |
| 5 | g.157471800C>T | CA361972809 | ADAM19,NIPAL4 | c.569C>T (p.Ser190Phe) c.512C>T (p.Ser171Phe) c.755C>T (p.Ser252Phe) c.698C>T (p.Ser233Phe) c.*1741+16465G>A (n.*1741+16465G>A) c.667C>T (n.667C>T) c.260C>T (p.Ser87Phe) c.56C>T (p.Ser19Phe) | |
| 5 | g.157471801C>A | CA447431442 | ADAM19,NIPAL4 | c.570C>A (p.Ser190=) c.513C>A (p.Ser171=) c.756C>A (p.Ser252=) c.699C>A (p.Ser233=) c.*1741+16464G>T (n.*1741+16464G>T) c.668C>A (n.668C>A) c.261C>A (p.Ser87=) c.57C>A (p.Ser19=) | gnomAD v4 |
| 5 | g.157471801C= | CA1594187655 | ADAM19,NIPAL4 | c.570C= (p.Ser190=) c.513C= (p.Ser171=) c.756C= (p.Ser252=) c.699C= (p.Ser233=) c.*1741+16464G= (n.*1741+16464G=) c.668C= (n.668C=) c.261C= (p.Ser87=) c.57C= (p.Ser19=) | |
| 5 | g.157471801C>G | CA447431443 | ADAM19,NIPAL4 | c.570C>G (p.Ser190=) c.513C>G (p.Ser171=) c.756C>G (p.Ser252=) c.699C>G (p.Ser233=) c.*1741+16464G>C (n.*1741+16464G>C) c.668C>G (n.668C>G) c.261C>G (p.Ser87=) c.57C>G (p.Ser19=) | |
| 5 | g.157471801C>T | CA447431444 | ADAM19,NIPAL4 | c.570C>T (p.Ser190=) c.513C>T (p.Ser171=) c.756C>T (p.Ser252=) c.699C>T (p.Ser233=) c.*1741+16464G>A (n.*1741+16464G>A) c.668C>T (n.668C>T) c.261C>T (p.Ser87=) c.57C>T (p.Ser19=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.157471802A>C | CA361972810 | ADAM19,NIPAL4 | c.571A>C (p.Lys191Gln) c.514A>C (p.Lys172Gln) c.757A>C (p.Lys253Gln) c.700A>C (p.Lys234Gln) c.*1741+16463T>G (n.*1741+16463T>G) c.669A>C (n.669A>C) c.262A>C (p.Lys88Gln) c.58A>C (p.Lys20Gln) | |
| 5 | g.157471802A>G | CA361972811 | ADAM19,NIPAL4 | c.571A>G (p.Lys191Glu) c.514A>G (p.Lys172Glu) c.757A>G (p.Lys253Glu) c.700A>G (p.Lys234Glu) c.*1741+16463T>C (n.*1741+16463T>C) c.669A>G (n.669A>G) c.262A>G (p.Lys88Glu) c.58A>G (p.Lys20Glu) | gnomAD v4 |
| 5 | g.157471802A>T | CA361972812 | ADAM19,NIPAL4 | c.571A>T (p.Lys191Ter) c.514A>T (p.Lys172Ter) c.757A>T (p.Lys253Ter) c.700A>T (p.Lys234Ter) c.*1741+16463T>A (n.*1741+16463T>A) c.669A>T (n.669A>T) c.262A>T (p.Lys88Ter) c.58A>T (p.Lys20Ter) |