| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.157471677T>A | CA361972455 | ADAM19,NIPAL4 | c.446T>A (p.Phe149Tyr) c.389T>A (p.Phe130Tyr) c.632T>A (p.Phe211Tyr) c.575T>A (p.Phe192Tyr) c.*1741+16588A>T (n.*1741+16588A>T) c.544T>A (n.544T>A) c.137T>A (p.Phe46Tyr) c.-68T>A (n.-68T>A) | |
| 5 | g.157471677T>C | CA361972457 | ADAM19,NIPAL4 | c.446T>C (p.Phe149Ser) c.389T>C (p.Phe130Ser) c.632T>C (p.Phe211Ser) c.575T>C (p.Phe192Ser) c.*1741+16588A>G (n.*1741+16588A>G) c.544T>C (n.544T>C) c.137T>C (p.Phe46Ser) c.-68T>C (n.-68T>C) | |
| 5 | g.157471677T>G | CA361972456 | ADAM19,NIPAL4 | c.446T>G (p.Phe149Cys) c.389T>G (p.Phe130Cys) c.632T>G (p.Phe211Cys) c.575T>G (p.Phe192Cys) c.*1741+16588A>C (n.*1741+16588A>C) c.544T>G (n.544T>G) c.137T>G (p.Phe46Cys) c.-68T>G (n.-68T>G) | |
| 5 | g.157471678C>A | CA361972458 | ADAM19,NIPAL4 | c.447C>A (p.Phe149Leu) c.390C>A (p.Phe130Leu) c.633C>A (p.Phe211Leu) c.576C>A (p.Phe192Leu) c.*1741+16587G>T (n.*1741+16587G>T) c.545C>A (n.545C>A) c.138C>A (p.Phe46Leu) c.-67C>A (n.-67C>A) | gnomAD v4 |
| 5 | g.157471678C>G | CA361972459 | ADAM19,NIPAL4 | c.447C>G (p.Phe149Leu) c.390C>G (p.Phe130Leu) c.633C>G (p.Phe211Leu) c.576C>G (p.Phe192Leu) c.*1741+16587G>C (n.*1741+16587G>C) c.545C>G (n.545C>G) c.138C>G (p.Phe46Leu) c.-67C>G (n.-67C>G) | |
| 5 | g.157471678C>T | CA447431176 | ADAM19,NIPAL4 | c.447C>T (p.Phe149=) c.390C>T (p.Phe130=) c.633C>T (p.Phe211=) c.576C>T (p.Phe192=) c.*1741+16587G>A (n.*1741+16587G>A) c.545C>T (n.545C>T) c.138C>T (p.Phe46=) c.-67C>T (n.-67C>T) | COSMIC COSMIC |
| 5 | g.157471679C>A | CA361972460 | ADAM19,NIPAL4 | c.448C>A (p.Leu150Met) c.391C>A (p.Leu131Met) c.634C>A (p.Leu212Met) c.577C>A (p.Leu193Met) c.*1741+16586G>T (n.*1741+16586G>T) c.546C>A (n.546C>A) c.139C>A (p.Leu47Met) c.-66C>A (n.-66C>A) | gnomAD v4 |
| 5 | g.157471679C>G | CA361972461 | ADAM19,NIPAL4 | c.448C>G (p.Leu150Val) c.391C>G (p.Leu131Val) c.634C>G (p.Leu212Val) c.577C>G (p.Leu193Val) c.*1741+16586G>C (n.*1741+16586G>C) c.546C>G (n.546C>G) c.139C>G (p.Leu47Val) c.-66C>G (n.-66C>G) | |
| 5 | g.157471679C>T | CA447431177 | ADAM19,NIPAL4 | c.448C>T (p.Leu150=) c.391C>T (p.Leu131=) c.634C>T (p.Leu212=) c.577C>T (p.Leu193=) c.*1741+16586G>A (n.*1741+16586G>A) c.546C>T (n.546C>T) c.139C>T (p.Leu47=) c.-66C>T (n.-66C>T) | |
| 5 | g.157471680del | CA2676216449 | ADAM19,NIPAL4 | c.449del (p.Leu150ArgfsTer5) c.392del (p.Leu131ArgfsTer5) c.635del (p.Leu212ArgfsTer5) c.578del (p.Leu193ArgfsTer5) c.*1741+16585del (n.*1741+16585del) c.547del (n.547del) c.140del (p.Leu47ArgfsTer5) c.-65del (n.-65del) | gnomAD v4 |
| 5 | g.157471680T>A | CA361972462 | ADAM19,NIPAL4 | c.449T>A (p.Leu150Gln) c.392T>A (p.Leu131Gln) c.635T>A (p.Leu212Gln) c.578T>A (p.Leu193Gln) c.*1741+16585A>T (n.*1741+16585A>T) c.547T>A (n.547T>A) c.140T>A (p.Leu47Gln) c.-65T>A (n.-65T>A) | |
| 5 | g.157471680T>C | CA361972463 | ADAM19,NIPAL4 | c.449T>C (p.Leu150Pro) c.392T>C (p.Leu131Pro) c.635T>C (p.Leu212Pro) c.578T>C (p.Leu193Pro) c.*1741+16585A>G (n.*1741+16585A>G) c.547T>C (n.547T>C) c.140T>C (p.Leu47Pro) c.-65T>C (n.-65T>C) | gnomAD v4 |
| 5 | g.157471680T>G | CA361972464 | ADAM19,NIPAL4 | c.449T>G (p.Leu150Arg) c.392T>G (p.Leu131Arg) c.635T>G (p.Leu212Arg) c.578T>G (p.Leu193Arg) c.*1741+16585A>C (n.*1741+16585A>C) c.547T>G (n.547T>G) c.140T>G (p.Leu47Arg) c.-65T>G (n.-65T>G) | |
| 5 | g.157471681G>A | CA447431178 | ADAM19,NIPAL4 | c.450G>A (p.Leu150=) c.393G>A (p.Leu131=) c.636G>A (p.Leu212=) c.579G>A (p.Leu193=) c.*1741+16584C>T (n.*1741+16584C>T) c.548G>A (n.548G>A) c.141G>A (p.Leu47=) c.-64G>A (n.-64G>A) | gnomAD v4 |
| 5 | g.157471681G>C | CA447431179 | ADAM19,NIPAL4 | c.450G>C (p.Leu150=) c.393G>C (p.Leu131=) c.636G>C (p.Leu212=) c.579G>C (p.Leu193=) c.*1741+16584C>G (n.*1741+16584C>G) c.548G>C (n.548G>C) c.141G>C (p.Leu47=) c.-64G>C (n.-64G>C) | gnomAD v4 |
| 5 | g.157471681G= | CA1594187360 | ADAM19,NIPAL4 | c.450G= (p.Leu150=) c.393G= (p.Leu131=) c.636G= (p.Leu212=) c.579G= (p.Leu193=) c.*1741+16584C= (n.*1741+16584C=) c.548G= (n.548G=) c.141G= (p.Leu47=) c.-64G= (n.-64G=) | |
| 5 | g.157471681G>T | CA447431180 | ADAM19,NIPAL4 | c.450G>T (p.Leu150=) c.393G>T (p.Leu131=) c.636G>T (p.Leu212=) c.579G>T (p.Leu193=) c.*1741+16584C>A (n.*1741+16584C>A) c.548G>T (n.548G>T) c.141G>T (p.Leu47=) c.-64G>T (n.-64G>T) | dbSNP gnomAD v4 |
| 5 | g.157471682del | CA2676216450 | ADAM19,NIPAL4 | c.451del (p.Arg151GlyfsTer4) c.394del (p.Arg132GlyfsTer4) c.637del (p.Arg213GlyfsTer4) c.580del (p.Arg194GlyfsTer4) c.*1741+16583del (n.*1741+16583del) c.549del (n.549del) c.142del (p.Arg48GlyfsTer4) c.-63del (n.-63del) | gnomAD v4 |
| 5 | g.157471682A= | CA1594187367 | ADAM19,NIPAL4 | c.451A= (p.Arg151=) c.394A= (p.Arg132=) c.637A= (p.Arg213=) c.580A= (p.Arg194=) c.*1741+16583T= (n.*1741+16583T=) c.549A= (n.549A=) c.142A= (p.Arg48=) c.-63A= (n.-63A=) | |
| 5 | g.157471682A>C | CA447431181 | ADAM19,NIPAL4 | c.451A>C (p.Arg151=) c.394A>C (p.Arg132=) c.637A>C (p.Arg213=) c.580A>C (p.Arg194=) c.*1741+16583T>G (n.*1741+16583T>G) c.549A>C (n.549A>C) c.142A>C (p.Arg48=) c.-63A>C (n.-63A>C) | gnomAD v4 |
| 5 | g.157471682A>G | CA3534658 | ADAM19,NIPAL4 | c.451A>G (p.Arg151Gly) c.394A>G (p.Arg132Gly) c.637A>G (p.Arg213Gly) c.580A>G (p.Arg194Gly) c.*1741+16583T>C (n.*1741+16583T>C) c.549A>G (n.549A>G) c.142A>G (p.Arg48Gly) c.-63A>G (n.-63A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157471682A>T | CA361972465 | ADAM19,NIPAL4 | c.451A>T (p.Arg151Trp) c.394A>T (p.Arg132Trp) c.637A>T (p.Arg213Trp) c.580A>T (p.Arg194Trp) c.*1741+16583T>A (n.*1741+16583T>A) c.549A>T (n.549A>T) c.142A>T (p.Arg48Trp) c.-63A>T (n.-63A>T) | dbSNP gnomAD v4 |
| 5 | g.157471683G>A | CA361972468 | ADAM19,NIPAL4 | c.452G>A (p.Arg151Lys) c.395G>A (p.Arg132Lys) c.638G>A (p.Arg213Lys) c.581G>A (p.Arg194Lys) c.*1741+16582C>T (n.*1741+16582C>T) c.550G>A (n.550G>A) c.143G>A (p.Arg48Lys) c.-62G>A (n.-62G>A) | gnomAD v4 |
| 5 | g.157471683G>C | CA361972466 | ADAM19,NIPAL4 | c.452G>C (p.Arg151Thr) c.395G>C (p.Arg132Thr) c.638G>C (p.Arg213Thr) c.581G>C (p.Arg194Thr) c.*1741+16582C>G (n.*1741+16582C>G) c.550G>C (n.550G>C) c.143G>C (p.Arg48Thr) c.-62G>C (n.-62G>C) | |
| 5 | g.157471683G>T | CA361972467 | ADAM19,NIPAL4 | c.452G>T (p.Arg151Met) c.395G>T (p.Arg132Met) c.638G>T (p.Arg213Met) c.581G>T (p.Arg194Met) c.*1741+16582C>A (n.*1741+16582C>A) c.550G>T (n.550G>T) c.143G>T (p.Arg48Met) c.-62G>T (n.-62G>T) | |
| 5 | g.157471683_157471684insCA | CA2676216451 | ADAM19,NIPAL4 | c.452_453insCA (p.Arg151SerfsTer5) c.395_396insCA (p.Arg132SerfsTer5) c.638_639insCA (p.Arg213SerfsTer5) c.581_582insCA (p.Arg194SerfsTer5) c.*1741+16581_*1741+16582insTG (n.*1741+16581_*1741+16582insTG) c.550_551insCA (n.550_551insCA) c.143_144insCA (p.Arg48SerfsTer5) c.-62_-61insCA (n.-62_-61insCA) | gnomAD v4 |
| 5 | g.157471684G>A | CA447431182 | ADAM19,NIPAL4 | c.453G>A (p.Arg151=) c.396G>A (p.Arg132=) c.639G>A (p.Arg213=) c.582G>A (p.Arg194=) c.*1741+16581C>T (n.*1741+16581C>T) c.551G>A (n.551G>A) c.144G>A (p.Arg48=) c.-61G>A (n.-61G>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.157471684G>C | CA361972469 | ADAM19,NIPAL4 | c.453G>C (p.Arg151Ser) c.396G>C (p.Arg132Ser) c.639G>C (p.Arg213Ser) c.582G>C (p.Arg194Ser) c.*1741+16581C>G (n.*1741+16581C>G) c.551G>C (n.551G>C) c.144G>C (p.Arg48Ser) c.-61G>C (n.-61G>C) | |
| 5 | g.157471684G>T | CA361972470 | ADAM19,NIPAL4 | c.453G>T (p.Arg151Ser) c.396G>T (p.Arg132Ser) c.639G>T (p.Arg213Ser) c.582G>T (p.Arg194Ser) c.*1741+16581C>A (n.*1741+16581C>A) c.551G>T (n.551G>T) c.144G>T (p.Arg48Ser) c.-61G>T (n.-61G>T) | |
| 5 | g.157471685G>A | CA361972471 | ADAM19,NIPAL4 | c.454G>A (p.Glu152Lys) c.397G>A (p.Glu133Lys) c.640G>A (p.Glu214Lys) c.583G>A (p.Glu195Lys) c.*1741+16580C>T (n.*1741+16580C>T) c.552G>A (n.552G>A) c.145G>A (p.Glu49Lys) c.-60G>A (n.-60G>A) | |
| 5 | g.157471685G>C | CA361972472 | ADAM19,NIPAL4 | c.454G>C (p.Glu152Gln) c.397G>C (p.Glu133Gln) c.640G>C (p.Glu214Gln) c.583G>C (p.Glu195Gln) c.*1741+16580C>G (n.*1741+16580C>G) c.552G>C (n.552G>C) c.145G>C (p.Glu49Gln) c.-60G>C (n.-60G>C) | |
| 5 | g.157471685G>T | CA361972473 | ADAM19,NIPAL4 | c.454G>T (p.Glu152Ter) c.397G>T (p.Glu133Ter) c.640G>T (p.Glu214Ter) c.583G>T (p.Glu195Ter) c.*1741+16580C>A (n.*1741+16580C>A) c.552G>T (n.552G>T) c.145G>T (p.Glu49Ter) c.-60G>T (n.-60G>T) | |
| 5 | g.157471686A= | CA1594187373 | ADAM19,NIPAL4 | c.455A= (p.Glu152=) c.398A= (p.Glu133=) c.641A= (p.Glu214=) c.584A= (p.Glu195=) c.*1741+16579T= (n.*1741+16579T=) c.553A= (n.553A=) c.146A= (p.Glu49=) c.-59A= (n.-59A=) | |
| 5 | g.157471686A>C | CA361972474 | ADAM19,NIPAL4 | c.455A>C (p.Glu152Ala) c.398A>C (p.Glu133Ala) c.641A>C (p.Glu214Ala) c.584A>C (p.Glu195Ala) c.*1741+16579T>G (n.*1741+16579T>G) c.553A>C (n.553A>C) c.146A>C (p.Glu49Ala) c.-59A>C (n.-59A>C) | |
| 5 | g.157471686A>G | CA361972475 | ADAM19,NIPAL4 | c.455A>G (p.Glu152Gly) c.398A>G (p.Glu133Gly) c.641A>G (p.Glu214Gly) c.584A>G (p.Glu195Gly) c.*1741+16579T>C (n.*1741+16579T>C) c.553A>G (n.553A>G) c.146A>G (p.Glu49Gly) c.-59A>G (n.-59A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.157471686A>T | CA361972476 | ADAM19,NIPAL4 | c.455A>T (p.Glu152Val) c.398A>T (p.Glu133Val) c.641A>T (p.Glu214Val) c.584A>T (p.Glu195Val) c.*1741+16579T>A (n.*1741+16579T>A) c.553A>T (n.553A>T) c.146A>T (p.Glu49Val) c.-59A>T (n.-59A>T) | |
| 5 | g.157471687G>A | CA447431186 | ADAM19,NIPAL4 | c.456G>A (p.Glu152=) c.399G>A (p.Glu133=) c.642G>A (p.Glu214=) c.585G>A (p.Glu195=) c.*1741+16578C>T (n.*1741+16578C>T) c.554G>A (n.554G>A) c.147G>A (p.Glu49=) c.-58G>A (n.-58G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.157471687G>C | CA361972477 | ADAM19,NIPAL4 | c.456G>C (p.Glu152Asp) c.399G>C (p.Glu133Asp) c.642G>C (p.Glu214Asp) c.585G>C (p.Glu195Asp) c.*1741+16578C>G (n.*1741+16578C>G) c.554G>C (n.554G>C) c.147G>C (p.Glu49Asp) c.-58G>C (n.-58G>C) | gnomAD v4 |
| 5 | g.157471687G= | CA1594187378 | ADAM19,NIPAL4 | c.456G= (p.Glu152=) c.399G= (p.Glu133=) c.642G= (p.Glu214=) c.585G= (p.Glu195=) c.*1741+16578C= (n.*1741+16578C=) c.554G= (n.554G=) c.147G= (p.Glu49=) c.-58G= (n.-58G=) | |
| 5 | g.157471687G>T | CA361972478 | ADAM19,NIPAL4 | c.456G>T (p.Glu152Asp) c.399G>T (p.Glu133Asp) c.642G>T (p.Glu214Asp) c.585G>T (p.Glu195Asp) c.*1741+16578C>A (n.*1741+16578C>A) c.554G>T (n.554G>T) c.147G>T (p.Glu49Asp) c.-58G>T (n.-58G>T) | gnomAD v4 |
| 5 | g.157471687dup | CA2960294301 | ADAM19,NIPAL4 | c.456dup (p.Ser153GlufsTer26) c.399dup (p.Ser134GlufsTer26) c.642dup (p.Ser215GlufsTer26) c.585dup (p.Ser196GlufsTer26) c.*1741+16578dup (n.*1741+16578dup) c.554dup (n.554dup) c.147dup (p.Ser50GlufsTer26) c.-58dup (n.-58dup) | |
| 5 | g.157471688A= | CA1594187381 | ADAM19,NIPAL4 | c.457A= (p.Ser153=) c.400A= (p.Ser134=) c.643A= (p.Ser215=) c.586A= (p.Ser196=) c.*1741+16577T= (n.*1741+16577T=) c.555A= (n.555A=) c.148A= (p.Ser50=) c.-57A= (n.-57A=) | |
| 5 | g.157471688A>C | CA361972481 | ADAM19,NIPAL4 | c.457A>C (p.Ser153Arg) c.400A>C (p.Ser134Arg) c.643A>C (p.Ser215Arg) c.586A>C (p.Ser196Arg) c.*1741+16577T>G (n.*1741+16577T>G) c.555A>C (n.555A>C) c.148A>C (p.Ser50Arg) c.-57A>C (n.-57A>C) | |
| 5 | g.157471688A>G | CA361972480 | ADAM19,NIPAL4 | c.457A>G (p.Ser153Gly) c.400A>G (p.Ser134Gly) c.643A>G (p.Ser215Gly) c.586A>G (p.Ser196Gly) c.*1741+16577T>C (n.*1741+16577T>C) c.555A>G (n.555A>G) c.148A>G (p.Ser50Gly) c.-57A>G (n.-57A>G) | |
| 5 | g.157471688A>T | CA361972479 | ADAM19,NIPAL4 | c.457A>T (p.Ser153Cys) c.400A>T (p.Ser134Cys) c.643A>T (p.Ser215Cys) c.586A>T (p.Ser196Cys) c.*1741+16577T>A (n.*1741+16577T>A) c.555A>T (n.555A>T) c.148A>T (p.Ser50Cys) c.-57A>T (n.-57A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.157471689del | CA2676216452 | ADAM19,NIPAL4 | c.458del (p.Ser153IlefsTer2) c.401del (p.Ser134IlefsTer2) c.644del (p.Ser215IlefsTer2) c.587del (p.Ser196IlefsTer2) c.*1741+16576del (n.*1741+16576del) c.556del (n.556del) c.149del (p.Ser50IlefsTer2) c.-56del (n.-56del) | gnomAD v4 |
| 5 | g.157471689G>A | CA3534659 | ADAM19,NIPAL4 | c.458G>A (p.Ser153Asn) c.401G>A (p.Ser134Asn) c.644G>A (p.Ser215Asn) c.587G>A (p.Ser196Asn) c.*1741+16576C>T (n.*1741+16576C>T) c.556G>A (n.556G>A) c.149G>A (p.Ser50Asn) c.-56G>A (n.-56G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.157471689G>C | CA361972482 | ADAM19,NIPAL4 | c.458G>C (p.Ser153Thr) c.401G>C (p.Ser134Thr) c.644G>C (p.Ser215Thr) c.587G>C (p.Ser196Thr) c.*1741+16576C>G (n.*1741+16576C>G) c.556G>C (n.556G>C) c.149G>C (p.Ser50Thr) c.-56G>C (n.-56G>C) | gnomAD v4 |
| 5 | g.157471689G= | CA1594187386 | ADAM19,NIPAL4 | c.458G= (p.Ser153=) c.401G= (p.Ser134=) c.644G= (p.Ser215=) c.587G= (p.Ser196=) c.*1741+16576C= (n.*1741+16576C=) c.556G= (n.556G=) c.149G= (p.Ser50=) c.-56G= (n.-56G=) | |
| 5 | g.157471689G>T | CA361972483 | ADAM19,NIPAL4 | c.458G>T (p.Ser153Ile) c.401G>T (p.Ser134Ile) c.644G>T (p.Ser215Ile) c.587G>T (p.Ser196Ile) c.*1741+16576C>A (n.*1741+16576C>A) c.556G>T (n.556G>T) c.149G>T (p.Ser50Ile) c.-56G>T (n.-56G>T) | gnomAD v4 |