| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157471696C>A | CA361972497 | ADAM19,NIPAL4 | c.465C>A (p.Asn155Lys) c.408C>A (p.Asn136Lys) c.651C>A (p.Asn217Lys) c.594C>A (p.Asn198Lys) c.*1741+16569G>T (n.*1741+16569G>T) c.563C>A (n.563C>A) c.156C>A (p.Asn52Lys) c.-49C>A (n.-49C>A) | gnomAD v4 |
| 5 | g.157471696C= | CA1594187389 | ADAM19,NIPAL4 | c.465C= (p.Asn155=) c.408C= (p.Asn136=) c.651C= (p.Asn217=) c.594C= (p.Asn198=) c.*1741+16569G= (n.*1741+16569G=) c.563C= (n.563C=) c.156C= (p.Asn52=) c.-49C= (n.-49C=) | |
| 5 | g.157471696C>G | CA361972498 | ADAM19,NIPAL4 | c.465C>G (p.Asn155Lys) c.408C>G (p.Asn136Lys) c.651C>G (p.Asn217Lys) c.594C>G (p.Asn198Lys) c.*1741+16569G>C (n.*1741+16569G>C) c.563C>G (n.563C>G) c.156C>G (p.Asn52Lys) c.-49C>G (n.-49C>G) | |
| 5 | g.157471696C>T | CA130149166 | ADAM19,NIPAL4 | c.465C>T (p.Asn155=) c.408C>T (p.Asn136=) c.651C>T (p.Asn217=) c.594C>T (p.Asn198=) c.*1741+16569G>A (n.*1741+16569G>A) c.563C>T (n.563C>T) c.156C>T (p.Asn52=) c.-49C>T (n.-49C>T) | dbSNP |
| 5 | g.157471697C>A | CA361972499 | ADAM19,NIPAL4 | c.466C>A (p.Leu156Met) c.409C>A (p.Leu137Met) c.652C>A (p.Leu218Met) c.595C>A (p.Leu199Met) c.*1741+16568G>T (n.*1741+16568G>T) c.564C>A (n.564C>A) c.157C>A (p.Leu53Met) c.-48C>A (n.-48C>A) | dbSNP gnomAD v4 |
| 5 | g.157471697C= | CA1594187393 | ADAM19,NIPAL4 | c.466C= (p.Leu156=) c.409C= (p.Leu137=) c.652C= (p.Leu218=) c.595C= (p.Leu199=) c.*1741+16568G= (n.*1741+16568G=) c.564C= (n.564C=) c.157C= (p.Leu53=) c.-48C= (n.-48C=) | |
| 5 | g.157471697C>G | CA361972500 | ADAM19,NIPAL4 | c.466C>G (p.Leu156Val) c.409C>G (p.Leu137Val) c.652C>G (p.Leu218Val) c.595C>G (p.Leu199Val) c.*1741+16568G>C (n.*1741+16568G>C) c.564C>G (n.564C>G) c.157C>G (p.Leu53Val) c.-48C>G (n.-48C>G) | |
| 5 | g.157471697C>T | CA447431195 | ADAM19,NIPAL4 | c.466C>T (p.Leu156=) c.409C>T (p.Leu137=) c.652C>T (p.Leu218=) c.595C>T (p.Leu199=) c.*1741+16568G>A (n.*1741+16568G>A) c.564C>T (n.564C>T) c.157C>T (p.Leu53=) c.-48C>T (n.-48C>T) | |
| 5 | g.157471698T>A | CA361972501 | ADAM19,NIPAL4 | c.467T>A (p.Leu156Gln) c.410T>A (p.Leu137Gln) c.653T>A (p.Leu218Gln) c.596T>A (p.Leu199Gln) c.*1741+16567A>T (n.*1741+16567A>T) c.565T>A (n.565T>A) c.158T>A (p.Leu53Gln) c.-47T>A (n.-47T>A) | |
| 5 | g.157471698T>C | CA361972502 | ADAM19,NIPAL4 | c.467T>C (p.Leu156Pro) c.410T>C (p.Leu137Pro) c.653T>C (p.Leu218Pro) c.596T>C (p.Leu199Pro) c.*1741+16567A>G (n.*1741+16567A>G) c.565T>C (n.565T>C) c.158T>C (p.Leu53Pro) c.-47T>C (n.-47T>C) | |
| 5 | g.157471698T>G | CA361972503 | ADAM19,NIPAL4 | c.467T>G (p.Leu156Arg) c.410T>G (p.Leu137Arg) c.653T>G (p.Leu218Arg) c.596T>G (p.Leu199Arg) c.*1741+16567A>C (n.*1741+16567A>C) c.565T>G (n.565T>G) c.158T>G (p.Leu53Arg) c.-47T>G (n.-47T>G) | |
| 5 | g.157471699G>A | CA447431196 | ADAM19,NIPAL4 | c.468G>A (p.Leu156=) c.411G>A (p.Leu137=) c.654G>A (p.Leu218=) c.597G>A (p.Leu199=) c.*1741+16566C>T (n.*1741+16566C>T) c.566G>A (n.566G>A) c.159G>A (p.Leu53=) c.-46G>A (n.-46G>A) | dbSNP gnomAD v2 |
| 5 | g.157471699G>C | CA447431197 | ADAM19,NIPAL4 | c.468G>C (p.Leu156=) c.411G>C (p.Leu137=) c.654G>C (p.Leu218=) c.597G>C (p.Leu199=) c.*1741+16566C>G (n.*1741+16566C>G) c.566G>C (n.566G>C) c.159G>C (p.Leu53=) c.-46G>C (n.-46G>C) | |
| 5 | g.157471699G= | CA1594187398 | ADAM19,NIPAL4 | c.468G= (p.Leu156=) c.411G= (p.Leu137=) c.654G= (p.Leu218=) c.597G= (p.Leu199=) c.*1741+16566C= (n.*1741+16566C=) c.566G= (n.566G=) c.159G= (p.Leu53=) c.-46G= (n.-46G=) | |
| 5 | g.157471699G>T | CA447431199 | ADAM19,NIPAL4 | c.468G>T (p.Leu156=) c.411G>T (p.Leu137=) c.654G>T (p.Leu218=) c.597G>T (p.Leu199=) c.*1741+16566C>A (n.*1741+16566C>A) c.566G>T (n.566G>T) c.159G>T (p.Leu53=) c.-46G>T (n.-46G>T) | gnomAD v4 |
| 5 | g.157471700C>A | CA361972505 | ADAM19,NIPAL4 | c.469C>A (p.Leu157Met) c.412C>A (p.Leu138Met) c.655C>A (p.Leu219Met) c.598C>A (p.Leu200Met) c.*1741+16565G>T (n.*1741+16565G>T) c.567C>A (n.567C>A) c.160C>A (p.Leu54Met) c.-45C>A (n.-45C>A) | dbSNP |
| 5 | g.157471700C= | CA1594187399 | ADAM19,NIPAL4 | c.469C= (p.Leu157=) c.412C= (p.Leu138=) c.655C= (p.Leu219=) c.598C= (p.Leu200=) c.*1741+16565G= (n.*1741+16565G=) c.567C= (n.567C=) c.160C= (p.Leu54=) c.-45C= (n.-45C=) | |
| 5 | g.157471700C>G | CA361972504 | ADAM19,NIPAL4 | c.469C>G (p.Leu157Val) c.412C>G (p.Leu138Val) c.655C>G (p.Leu219Val) c.598C>G (p.Leu200Val) c.*1741+16565G>C (n.*1741+16565G>C) c.567C>G (n.567C>G) c.160C>G (p.Leu54Val) c.-45C>G (n.-45C>G) | |
| 5 | g.157471700C>T | CA3534660 | ADAM19,NIPAL4 | c.469C>T (p.Leu157=) c.412C>T (p.Leu138=) c.655C>T (p.Leu219=) c.598C>T (p.Leu200=) c.*1741+16565G>A (n.*1741+16565G>A) c.567C>T (n.567C>T) c.160C>T (p.Leu54=) c.-45C>T (n.-45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157471701T>A | CA361972506 | ADAM19,NIPAL4 | c.470T>A (p.Leu157Gln) c.413T>A (p.Leu138Gln) c.656T>A (p.Leu219Gln) c.599T>A (p.Leu200Gln) c.*1741+16564A>T (n.*1741+16564A>T) c.568T>A (n.568T>A) c.161T>A (p.Leu54Gln) c.-44T>A (n.-44T>A) | |
| 5 | g.157471701T>C | CA361972507 | ADAM19,NIPAL4 | c.470T>C (p.Leu157Pro) c.413T>C (p.Leu138Pro) c.656T>C (p.Leu219Pro) c.599T>C (p.Leu200Pro) c.*1741+16564A>G (n.*1741+16564A>G) c.568T>C (n.568T>C) c.161T>C (p.Leu54Pro) c.-44T>C (n.-44T>C) | gnomAD v4 |
| 5 | g.157471701T>G | CA361972508 | ADAM19,NIPAL4 | c.470T>G (p.Leu157Arg) c.413T>G (p.Leu138Arg) c.656T>G (p.Leu219Arg) c.599T>G (p.Leu200Arg) c.*1741+16564A>C (n.*1741+16564A>C) c.568T>G (n.568T>G) c.161T>G (p.Leu54Arg) c.-44T>G (n.-44T>G) | |
| 5 | g.157471702G>A | CA447431202 | ADAM19,NIPAL4 | c.471G>A (p.Leu157=) c.414G>A (p.Leu138=) c.657G>A (p.Leu219=) c.600G>A (p.Leu200=) c.*1741+16563C>T (n.*1741+16563C>T) c.569G>A (n.569G>A) c.162G>A (p.Leu54=) c.-43G>A (n.-43G>A) | |
| 5 | g.157471702G>C | CA447431200 | ADAM19,NIPAL4 | c.471G>C (p.Leu157=) c.414G>C (p.Leu138=) c.657G>C (p.Leu219=) c.600G>C (p.Leu200=) c.*1741+16563C>G (n.*1741+16563C>G) c.569G>C (n.569G>C) c.162G>C (p.Leu54=) c.-43G>C (n.-43G>C) | |
| 5 | g.157471702G>T | CA447431201 | ADAM19,NIPAL4 | c.471G>T (p.Leu157=) c.414G>T (p.Leu138=) c.657G>T (p.Leu219=) c.600G>T (p.Leu200=) c.*1741+16563C>A (n.*1741+16563C>A) c.569G>T (n.569G>T) c.162G>T (p.Leu54=) c.-43G>T (n.-43G>T) | gnomAD v4 COSMIC COSMIC |
| 5 | g.157471705dup | CA2841589560 | ADAM19,NIPAL4 | c.474dup (p.Lys159GlufsTer20) c.417dup (p.Lys140GlufsTer20) c.660dup (p.Lys221GlufsTer20) c.603dup (p.Lys202GlufsTer20) c.*1741+16563dup (n.*1741+16563dup) c.572dup (n.572dup) c.165dup (p.Lys56GlufsTer20) c.-40dup (n.-40dup) | |
| 5 | g.157471705del | CA2676216453 | ADAM19,NIPAL4 | c.474del (p.Lys159SerfsTer5) c.417del (p.Lys140SerfsTer5) c.660del (p.Lys221SerfsTer5) c.603del (p.Lys202SerfsTer5) c.*1741+16563del (n.*1741+16563del) c.572del (n.572del) c.165del (p.Lys56SerfsTer5) c.-40del (n.-40del) | gnomAD v4 |
| 5 | g.157471703G>A | CA361972509 | ADAM19,NIPAL4 | c.472G>A (p.Gly158Arg) c.415G>A (p.Gly139Arg) c.658G>A (p.Gly220Arg) c.601G>A (p.Gly201Arg) c.*1741+16562C>T (n.*1741+16562C>T) c.570G>A (n.570G>A) c.163G>A (p.Gly55Arg) c.-42G>A (n.-42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.157471703G>C | CA361972510 | ADAM19,NIPAL4 | c.472G>C (p.Gly158Arg) c.415G>C (p.Gly139Arg) c.658G>C (p.Gly220Arg) c.601G>C (p.Gly201Arg) c.*1741+16562C>G (n.*1741+16562C>G) c.570G>C (n.570G>C) c.163G>C (p.Gly55Arg) c.-42G>C (n.-42G>C) | |
| 5 | g.157471703G= | CA1594187404 | ADAM19,NIPAL4 | c.472G= (p.Gly158=) c.415G= (p.Gly139=) c.658G= (p.Gly220=) c.601G= (p.Gly201=) c.*1741+16562C= (n.*1741+16562C=) c.570G= (n.570G=) c.163G= (p.Gly55=) c.-42G= (n.-42G=) | |
| 5 | g.157471703G>T | CA361972511 | ADAM19,NIPAL4 | c.472G>T (p.Gly158Trp) c.415G>T (p.Gly139Trp) c.658G>T (p.Gly220Trp) c.601G>T (p.Gly201Trp) c.*1741+16562C>A (n.*1741+16562C>A) c.570G>T (n.570G>T) c.163G>T (p.Gly55Trp) c.-42G>T (n.-42G>T) | |
| 5 | g.157471704G>A | CA361972512 | ADAM19,NIPAL4 | c.473G>A (p.Gly158Glu) c.416G>A (p.Gly139Glu) c.659G>A (p.Gly220Glu) c.602G>A (p.Gly201Glu) c.*1741+16561C>T (n.*1741+16561C>T) c.571G>A (n.571G>A) c.164G>A (p.Gly55Glu) c.-41G>A (n.-41G>A) | gnomAD v4 |
| 5 | g.157471704G>C | CA361972513 | ADAM19,NIPAL4 | c.473G>C (p.Gly158Ala) c.416G>C (p.Gly139Ala) c.659G>C (p.Gly220Ala) c.602G>C (p.Gly201Ala) c.*1741+16561C>G (n.*1741+16561C>G) c.571G>C (n.571G>C) c.164G>C (p.Gly55Ala) c.-41G>C (n.-41G>C) | gnomAD v4 |
| 5 | g.157471704G>T | CA361972514 | ADAM19,NIPAL4 | c.473G>T (p.Gly158Val) c.416G>T (p.Gly139Val) c.659G>T (p.Gly220Val) c.602G>T (p.Gly201Val) c.*1741+16561C>A (n.*1741+16561C>A) c.571G>T (n.571G>T) c.164G>T (p.Gly55Val) c.-41G>T (n.-41G>T) | |
| 5 | g.157471705G>A | CA447431207 | ADAM19,NIPAL4 | c.474G>A (p.Gly158=) c.417G>A (p.Gly139=) c.660G>A (p.Gly220=) c.603G>A (p.Gly201=) c.*1741+16560C>T (n.*1741+16560C>T) c.572G>A (n.572G>A) c.165G>A (p.Gly55=) c.-40G>A (n.-40G>A) | gnomAD v4 |
| 5 | g.157471705G>C | CA447431208 | ADAM19,NIPAL4 | c.474G>C (p.Gly158=) c.417G>C (p.Gly139=) c.660G>C (p.Gly220=) c.603G>C (p.Gly201=) c.*1741+16560C>G (n.*1741+16560C>G) c.572G>C (n.572G>C) c.165G>C (p.Gly55=) c.-40G>C (n.-40G>C) | |
| 5 | g.157471705G>T | CA447431209 | ADAM19,NIPAL4 | c.474G>T (p.Gly158=) c.417G>T (p.Gly139=) c.660G>T (p.Gly220=) c.603G>T (p.Gly201=) c.*1741+16560C>A (n.*1741+16560C>A) c.572G>T (n.572G>T) c.165G>T (p.Gly55=) c.-40G>T (n.-40G>T) | |
| 5 | g.157471706A= | CA1594187408 | ADAM19,NIPAL4 | c.475A= (p.Lys159=) c.418A= (p.Lys140=) c.661A= (p.Lys221=) c.604A= (p.Lys202=) c.*1741+16559T= (n.*1741+16559T=) c.573A= (n.573A=) c.166A= (p.Lys56=) c.-39A= (n.-39A=) | |
| 5 | g.157471706A>C | CA361972516 | ADAM19,NIPAL4 | c.475A>C (p.Lys159Gln) c.418A>C (p.Lys140Gln) c.661A>C (p.Lys221Gln) c.604A>C (p.Lys202Gln) c.*1741+16559T>G (n.*1741+16559T>G) c.573A>C (n.573A>C) c.166A>C (p.Lys56Gln) c.-39A>C (n.-39A>C) | dbSNP gnomAD v4 |
| 5 | g.157471706A>G | CA361972517 | ADAM19,NIPAL4 | c.475A>G (p.Lys159Glu) c.418A>G (p.Lys140Glu) c.661A>G (p.Lys221Glu) c.604A>G (p.Lys202Glu) c.*1741+16559T>C (n.*1741+16559T>C) c.573A>G (n.573A>G) c.166A>G (p.Lys56Glu) c.-39A>G (n.-39A>G) | dbSNP |
| 5 | g.157471706A>T | CA361972515 | ADAM19,NIPAL4 | c.475A>T (p.Lys159Ter) c.418A>T (p.Lys140Ter) c.661A>T (p.Lys221Ter) c.604A>T (p.Lys202Ter) c.*1741+16559T>A (n.*1741+16559T>A) c.573A>T (n.573A>T) c.166A>T (p.Lys56Ter) c.-39A>T (n.-39A>T) | |
| 5 | g.157471707A>C | CA361972518 | ADAM19,NIPAL4 | c.476A>C (p.Lys159Thr) c.419A>C (p.Lys140Thr) c.662A>C (p.Lys221Thr) c.605A>C (p.Lys202Thr) c.*1741+16558T>G (n.*1741+16558T>G) c.574A>C (n.574A>C) c.167A>C (p.Lys56Thr) c.-38A>C (n.-38A>C) | |
| 5 | g.157471707A>G | CA361972519 | ADAM19,NIPAL4 | c.476A>G (p.Lys159Arg) c.419A>G (p.Lys140Arg) c.662A>G (p.Lys221Arg) c.605A>G (p.Lys202Arg) c.*1741+16558T>C (n.*1741+16558T>C) c.574A>G (n.574A>G) c.167A>G (p.Lys56Arg) c.-38A>G (n.-38A>G) | |
| 5 | g.157471707A>T | CA361972520 | ADAM19,NIPAL4 | c.476A>T (p.Lys159Met) c.419A>T (p.Lys140Met) c.662A>T (p.Lys221Met) c.605A>T (p.Lys202Met) c.*1741+16558T>A (n.*1741+16558T>A) c.574A>T (n.574A>T) c.167A>T (p.Lys56Met) c.-38A>T (n.-38A>T) | |
| 5 | g.157471708G>A | CA447431211 | ADAM19,NIPAL4 | c.477G>A (p.Lys159=) c.420G>A (p.Lys140=) c.663G>A (p.Lys221=) c.606G>A (p.Lys202=) c.*1741+16557C>T (n.*1741+16557C>T) c.575G>A (n.575G>A) c.168G>A (p.Lys56=) c.-37G>A (n.-37G>A) | |
| 5 | g.157471708G>C | CA361972521 | ADAM19,NIPAL4 | c.477G>C (p.Lys159Asn) c.420G>C (p.Lys140Asn) c.663G>C (p.Lys221Asn) c.606G>C (p.Lys202Asn) c.*1741+16557C>G (n.*1741+16557C>G) c.575G>C (n.575G>C) c.168G>C (p.Lys56Asn) c.-37G>C (n.-37G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.157471708G= | CA1594187409 | ADAM19,NIPAL4 | c.477G= (p.Lys159=) c.420G= (p.Lys140=) c.663G= (p.Lys221=) c.606G= (p.Lys202=) c.*1741+16557C= (n.*1741+16557C=) c.575G= (n.575G=) c.168G= (p.Lys56=) c.-37G= (n.-37G=) | |
| 5 | g.157471708G>T | CA361972522 | ADAM19,NIPAL4 | c.477G>T (p.Lys159Asn) c.420G>T (p.Lys140Asn) c.663G>T (p.Lys221Asn) c.606G>T (p.Lys202Asn) c.*1741+16557C>A (n.*1741+16557C>A) c.575G>T (n.575G>T) c.168G>T (p.Lys56Asn) c.-37G>T (n.-37G>T) | gnomAD v4 |
| 5 | g.157471709C>A | CA361972523 | ADAM19,NIPAL4 | c.478C>A (p.Leu160Met) c.421C>A (p.Leu141Met) c.664C>A (p.Leu222Met) c.607C>A (p.Leu203Met) c.*1741+16556G>T (n.*1741+16556G>T) c.576C>A (n.576C>A) c.169C>A (p.Leu57Met) c.-36C>A (n.-36C>A) | dbSNP gnomAD v4 |
| 5 | g.157471709C= | CA1594187413 | ADAM19,NIPAL4 | c.478C= (p.Leu160=) c.421C= (p.Leu141=) c.664C= (p.Leu222=) c.607C= (p.Leu203=) c.*1741+16556G= (n.*1741+16556G=) c.576C= (n.576C=) c.169C= (p.Leu57=) c.-36C= (n.-36C=) |