| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 5 | g.157471689dup | CA2960294302 | ADAM19,NIPAL4 | c.458dup (p.Ser153ArgfsTer26) c.401dup (p.Ser134ArgfsTer26) c.644dup (p.Ser215ArgfsTer26) c.587dup (p.Ser196ArgfsTer26) c.*1741+16576dup (n.*1741+16576dup) c.556dup (n.556dup) c.149dup (p.Ser50ArgfsTer26) c.-56dup (n.-56dup) | |
| 5 | g.157471690T>A | CA361972484 | ADAM19,NIPAL4 | c.459T>A (p.Ser153Arg) c.402T>A (p.Ser134Arg) c.645T>A (p.Ser215Arg) c.588T>A (p.Ser196Arg) c.*1741+16575A>T (n.*1741+16575A>T) c.557T>A (n.557T>A) c.150T>A (p.Ser50Arg) c.-55T>A (n.-55T>A) | |
| 5 | g.157471690T>C | CA447431188 | ADAM19,NIPAL4 | c.459T>C (p.Ser153=) c.402T>C (p.Ser134=) c.645T>C (p.Ser215=) c.588T>C (p.Ser196=) c.*1741+16575A>G (n.*1741+16575A>G) c.557T>C (n.557T>C) c.150T>C (p.Ser50=) c.-55T>C (n.-55T>C) | |
| 5 | g.157471690T>G | CA361972485 | ADAM19,NIPAL4 | c.459T>G (p.Ser153Arg) c.402T>G (p.Ser134Arg) c.645T>G (p.Ser215Arg) c.588T>G (p.Ser196Arg) c.*1741+16575A>C (n.*1741+16575A>C) c.557T>G (n.557T>G) c.150T>G (p.Ser50Arg) c.-55T>G (n.-55T>G) | gnomAD v3 gnomAD v4 |
| 5 | g.157471691C>A | CA361972486 | ADAM19,NIPAL4 | c.460C>A (p.Leu154Met) c.403C>A (p.Leu135Met) c.646C>A (p.Leu216Met) c.589C>A (p.Leu197Met) c.*1741+16574G>T (n.*1741+16574G>T) c.558C>A (n.558C>A) c.151C>A (p.Leu51Met) c.-54C>A (n.-54C>A) | gnomAD v4 |
| 5 | g.157471691C>G | CA361972487 | ADAM19,NIPAL4 | c.460C>G (p.Leu154Val) c.403C>G (p.Leu135Val) c.646C>G (p.Leu216Val) c.589C>G (p.Leu197Val) c.*1741+16574G>C (n.*1741+16574G>C) c.558C>G (n.558C>G) c.151C>G (p.Leu51Val) c.-54C>G (n.-54C>G) | |
| 5 | g.157471691C>T | CA447431189 | ADAM19,NIPAL4 | c.460C>T (p.Leu154=) c.403C>T (p.Leu135=) c.646C>T (p.Leu216=) c.589C>T (p.Leu197=) c.*1741+16574G>A (n.*1741+16574G>A) c.558C>T (n.558C>T) c.151C>T (p.Leu51=) c.-54C>T (n.-54C>T) | |
| 5 | g.157471692T>A | CA361972488 | ADAM19,NIPAL4 | c.461T>A (p.Leu154Gln) c.404T>A (p.Leu135Gln) c.647T>A (p.Leu216Gln) c.590T>A (p.Leu197Gln) c.*1741+16573A>T (n.*1741+16573A>T) c.559T>A (n.559T>A) c.152T>A (p.Leu51Gln) c.-53T>A (n.-53T>A) | |
| 5 | g.157471692T>C | CA361972489 | ADAM19,NIPAL4 | c.461T>C (p.Leu154Pro) c.404T>C (p.Leu135Pro) c.647T>C (p.Leu216Pro) c.590T>C (p.Leu197Pro) c.*1741+16573A>G (n.*1741+16573A>G) c.559T>C (n.559T>C) c.152T>C (p.Leu51Pro) c.-53T>C (n.-53T>C) | |
| 5 | g.157471692T>G | CA361972490 | ADAM19,NIPAL4 | c.461T>G (p.Leu154Arg) c.404T>G (p.Leu135Arg) c.647T>G (p.Leu216Arg) c.590T>G (p.Leu197Arg) c.*1741+16573A>C (n.*1741+16573A>C) c.559T>G (n.559T>G) c.152T>G (p.Leu51Arg) c.-53T>G (n.-53T>G) | |
| 5 | g.157471693G>A | CA447431190 | ADAM19,NIPAL4 | c.462G>A (p.Leu154=) c.405G>A (p.Leu135=) c.648G>A (p.Leu216=) c.591G>A (p.Leu197=) c.*1741+16572C>T (n.*1741+16572C>T) c.560G>A (n.560G>A) c.153G>A (p.Leu51=) c.-52G>A (n.-52G>A) | |
| 5 | g.157471693G>C | CA447431192 | ADAM19,NIPAL4 | c.462G>C (p.Leu154=) c.405G>C (p.Leu135=) c.648G>C (p.Leu216=) c.591G>C (p.Leu197=) c.*1741+16572C>G (n.*1741+16572C>G) c.560G>C (n.560G>C) c.153G>C (p.Leu51=) c.-52G>C (n.-52G>C) | |
| 5 | g.157471693G>T | CA447431193 | ADAM19,NIPAL4 | c.462G>T (p.Leu154=) c.405G>T (p.Leu135=) c.648G>T (p.Leu216=) c.591G>T (p.Leu197=) c.*1741+16572C>A (n.*1741+16572C>A) c.560G>T (n.560G>T) c.153G>T (p.Leu51=) c.-52G>T (n.-52G>T) | gnomAD v4 |
| 5 | g.157471694A>C | CA361972491 | ADAM19,NIPAL4 | c.463A>C (p.Asn155His) c.406A>C (p.Asn136His) c.649A>C (p.Asn217His) c.592A>C (p.Asn198His) c.*1741+16571T>G (n.*1741+16571T>G) c.561A>C (n.561A>C) c.154A>C (p.Asn52His) c.-51A>C (n.-51A>C) | |
| 5 | g.157471694A>G | CA361972493 | ADAM19,NIPAL4 | c.463A>G (p.Asn155Asp) c.406A>G (p.Asn136Asp) c.649A>G (p.Asn217Asp) c.592A>G (p.Asn198Asp) c.*1741+16571T>C (n.*1741+16571T>C) c.561A>G (n.561A>G) c.154A>G (p.Asn52Asp) c.-51A>G (n.-51A>G) | |
| 5 | g.157471694A>T | CA361972492 | ADAM19,NIPAL4 | c.463A>T (p.Asn155Tyr) c.406A>T (p.Asn136Tyr) c.649A>T (p.Asn217Tyr) c.592A>T (p.Asn198Tyr) c.*1741+16571T>A (n.*1741+16571T>A) c.561A>T (n.561A>T) c.154A>T (p.Asn52Tyr) c.-51A>T (n.-51A>T) | |
| 5 | g.157471695A>C | CA361972494 | ADAM19,NIPAL4 | c.464A>C (p.Asn155Thr) c.407A>C (p.Asn136Thr) c.650A>C (p.Asn217Thr) c.593A>C (p.Asn198Thr) c.*1741+16570T>G (n.*1741+16570T>G) c.562A>C (n.562A>C) c.155A>C (p.Asn52Thr) c.-50A>C (n.-50A>C) |