| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37020515A= | CA1539619213 | NIPBL | c.5067A= (p.Glu1689=) c.1-44063A= (n.1-44063A=) c.4323A= (p.Glu1441=) c.4869A= (p.Glu1623=) c.4686A= (p.Glu1562=) c.4407A= (p.Glu1469=) c.3450A= (p.Glu1150=) c.3441A= (p.Glu1147=) | |
| 5 | g.37020515A>C | CA359486553 | NIPBL | c.5067A>C (p.Glu1689Asp) c.1-44063A>C (n.1-44063A>C) c.4323A>C (p.Glu1441Asp) c.4869A>C (p.Glu1623Asp) c.4686A>C (p.Glu1562Asp) c.4407A>C (p.Glu1469Asp) c.3450A>C (p.Glu1150Asp) c.3441A>C (p.Glu1147Asp) | |
| 5 | g.37020515A>G | CA3236697 | NIPBL | c.5067A>G (p.Glu1689=) c.1-44063A>G (n.1-44063A>G) c.4323A>G (p.Glu1441=) c.4869A>G (p.Glu1623=) c.4686A>G (p.Glu1562=) c.4407A>G (p.Glu1469=) c.3450A>G (p.Glu1150=) c.3441A>G (p.Glu1147=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37020515A>T | CA359486555 | NIPBL | c.5067A>T (p.Glu1689Asp) c.1-44063A>T (n.1-44063A>T) c.4323A>T (p.Glu1441Asp) c.4869A>T (p.Glu1623Asp) c.4686A>T (p.Glu1562Asp) c.4407A>T (p.Glu1469Asp) c.3450A>T (p.Glu1150Asp) c.3441A>T (p.Glu1147Asp) | |
| 5 | g.37020516A>C | CA359486558 | NIPBL | c.5068A>C (p.Lys1690Gln) c.1-44062A>C (n.1-44062A>C) c.4324A>C (p.Lys1442Gln) c.4870A>C (p.Lys1624Gln) c.4687A>C (p.Lys1563Gln) c.4408A>C (p.Lys1470Gln) c.3451A>C (p.Lys1151Gln) c.3442A>C (p.Lys1148Gln) | |
| 5 | g.37020516A>G | CA359486561 | NIPBL | c.5068A>G (p.Lys1690Glu) c.1-44062A>G (n.1-44062A>G) c.4324A>G (p.Lys1442Glu) c.4870A>G (p.Lys1624Glu) c.4687A>G (p.Lys1563Glu) c.4408A>G (p.Lys1470Glu) c.3451A>G (p.Lys1151Glu) c.3442A>G (p.Lys1148Glu) | |
| 5 | g.37020516A>T | CA359486563 | NIPBL | c.5068A>T (p.Lys1690Ter) c.1-44062A>T (n.1-44062A>T) c.4324A>T (p.Lys1442Ter) c.4870A>T (p.Lys1624Ter) c.4687A>T (p.Lys1563Ter) c.4408A>T (p.Lys1470Ter) c.3451A>T (p.Lys1151Ter) c.3442A>T (p.Lys1148Ter) | |
| 5 | g.37020517A>C | CA359486567 | NIPBL | c.5069A>C (p.Lys1690Thr) c.1-44061A>C (n.1-44061A>C) c.4325A>C (p.Lys1442Thr) c.4871A>C (p.Lys1624Thr) c.4688A>C (p.Lys1563Thr) c.4409A>C (p.Lys1470Thr) c.3452A>C (p.Lys1151Thr) c.3443A>C (p.Lys1148Thr) | |
| 5 | g.37020517A>G | CA359486568 | NIPBL | c.5069A>G (p.Lys1690Arg) c.1-44061A>G (n.1-44061A>G) c.4325A>G (p.Lys1442Arg) c.4871A>G (p.Lys1624Arg) c.4688A>G (p.Lys1563Arg) c.4409A>G (p.Lys1470Arg) c.3452A>G (p.Lys1151Arg) c.3443A>G (p.Lys1148Arg) | COSMIC |
| 5 | g.37020517A>T | CA359486571 | NIPBL | c.5069A>T (p.Lys1690Ile) c.1-44061A>T (n.1-44061A>T) c.4325A>T (p.Lys1442Ile) c.4871A>T (p.Lys1624Ile) c.4688A>T (p.Lys1563Ile) c.4409A>T (p.Lys1470Ile) c.3452A>T (p.Lys1151Ile) c.3443A>T (p.Lys1148Ile) | |
| 5 | g.37020518A>C | CA359486574 | NIPBL | c.5070A>C (p.Lys1690Asn) c.1-44060A>C (n.1-44060A>C) c.4326A>C (p.Lys1442Asn) c.4872A>C (p.Lys1624Asn) c.4689A>C (p.Lys1563Asn) c.4410A>C (p.Lys1470Asn) c.3453A>C (p.Lys1151Asn) c.3444A>C (p.Lys1148Asn) | |
| 5 | g.37020518A>G | CA443904946 | NIPBL | c.5070A>G (p.Lys1690=) c.1-44060A>G (n.1-44060A>G) c.4326A>G (p.Lys1442=) c.4872A>G (p.Lys1624=) c.4689A>G (p.Lys1563=) c.4410A>G (p.Lys1470=) c.3453A>G (p.Lys1151=) c.3444A>G (p.Lys1148=) | |
| 5 | g.37020518A>T | CA359486576 | NIPBL | c.5070A>T (p.Lys1690Asn) c.1-44060A>T (n.1-44060A>T) c.4326A>T (p.Lys1442Asn) c.4872A>T (p.Lys1624Asn) c.4689A>T (p.Lys1563Asn) c.4410A>T (p.Lys1470Asn) c.3453A>T (p.Lys1151Asn) c.3444A>T (p.Lys1148Asn) | |
| 5 | g.37020519G>A | CA359486578 | NIPBL | c.5071G>A (p.Ala1691Thr) c.1-44059G>A (n.1-44059G>A) c.4327G>A (p.Ala1443Thr) c.4873G>A (p.Ala1625Thr) c.4690G>A (p.Ala1564Thr) c.4411G>A (p.Ala1471Thr) c.3454G>A (p.Ala1152Thr) c.3445G>A (p.Ala1149Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37020519G>C | CA359486582 | NIPBL | c.5071G>C (p.Ala1691Pro) c.1-44059G>C (n.1-44059G>C) c.4327G>C (p.Ala1443Pro) c.4873G>C (p.Ala1625Pro) c.4690G>C (p.Ala1564Pro) c.4411G>C (p.Ala1471Pro) c.3454G>C (p.Ala1152Pro) c.3445G>C (p.Ala1149Pro) | |
| 5 | g.37020519G= | CA1539619216 | NIPBL | c.5071G= (p.Ala1691=) c.1-44059G= (n.1-44059G=) c.4327G= (p.Ala1443=) c.4873G= (p.Ala1625=) c.4690G= (p.Ala1564=) c.4411G= (p.Ala1471=) c.3454G= (p.Ala1152=) c.3445G= (p.Ala1149=) | |
| 5 | g.37020519G>T | CA359486580 | NIPBL | c.5071G>T (p.Ala1691Ser) c.1-44059G>T (n.1-44059G>T) c.4327G>T (p.Ala1443Ser) c.4873G>T (p.Ala1625Ser) c.4690G>T (p.Ala1564Ser) c.4411G>T (p.Ala1471Ser) c.3454G>T (p.Ala1152Ser) c.3445G>T (p.Ala1149Ser) | COSMIC COSMIC |
| 5 | g.37020520C>A | CA359486590 | NIPBL | c.5072C>A (p.Ala1691Glu) c.1-44058C>A (n.1-44058C>A) c.4328C>A (p.Ala1443Glu) c.4874C>A (p.Ala1625Glu) c.4691C>A (p.Ala1564Glu) c.4412C>A (p.Ala1471Glu) c.3455C>A (p.Ala1152Glu) c.3446C>A (p.Ala1149Glu) | |
| 5 | g.37020520C>G | CA359486594 | NIPBL | c.5072C>G (p.Ala1691Gly) c.1-44058C>G (n.1-44058C>G) c.4328C>G (p.Ala1443Gly) c.4874C>G (p.Ala1625Gly) c.4691C>G (p.Ala1564Gly) c.4412C>G (p.Ala1471Gly) c.3455C>G (p.Ala1152Gly) c.3446C>G (p.Ala1149Gly) | |
| 5 | g.37020520C>T | CA359486591 | NIPBL | c.5072C>T (p.Ala1691Val) c.1-44058C>T (n.1-44058C>T) c.4328C>T (p.Ala1443Val) c.4874C>T (p.Ala1625Val) c.4691C>T (p.Ala1564Val) c.4412C>T (p.Ala1471Val) c.3455C>T (p.Ala1152Val) c.3446C>T (p.Ala1149Val) | |
| 5 | g.37020521A>C | CA443904949 | NIPBL | c.5073A>C (p.Ala1691=) c.1-44057A>C (n.1-44057A>C) c.4329A>C (p.Ala1443=) c.4875A>C (p.Ala1625=) c.4692A>C (p.Ala1564=) c.4413A>C (p.Ala1471=) c.3456A>C (p.Ala1152=) c.3447A>C (p.Ala1149=) | |
| 5 | g.37020521A>G | CA443904950 | NIPBL | c.5073A>G (p.Ala1691=) c.1-44057A>G (n.1-44057A>G) c.4329A>G (p.Ala1443=) c.4875A>G (p.Ala1625=) c.4692A>G (p.Ala1564=) c.4413A>G (p.Ala1471=) c.3456A>G (p.Ala1152=) c.3447A>G (p.Ala1149=) | |
| 5 | g.37020521A>T | CA443904951 | NIPBL | c.5073A>T (p.Ala1691=) c.1-44057A>T (n.1-44057A>T) c.4329A>T (p.Ala1443=) c.4875A>T (p.Ala1625=) c.4692A>T (p.Ala1564=) c.4413A>T (p.Ala1471=) c.3456A>T (p.Ala1152=) c.3447A>T (p.Ala1149=) | |
| 5 | g.37020522A= | CA1539619219 | NIPBL | c.5074A= (p.Met1692=) c.1-44056A= (n.1-44056A=) c.4330A= (p.Met1444=) c.4876A= (p.Met1626=) c.4693A= (p.Met1565=) c.4414A= (p.Met1472=) c.3457A= (p.Met1153=) c.3448A= (p.Met1150=) | |
| 5 | g.37020522A>C | CA359486597 | NIPBL | c.5074A>C (p.Met1692Leu) c.1-44056A>C (n.1-44056A>C) c.4330A>C (p.Met1444Leu) c.4876A>C (p.Met1626Leu) c.4693A>C (p.Met1565Leu) c.4414A>C (p.Met1472Leu) c.3457A>C (p.Met1153Leu) c.3448A>C (p.Met1150Leu) | |
| 5 | g.37020522A>G | CA359486601 | NIPBL | c.5074A>G (p.Met1692Val) c.1-44056A>G (n.1-44056A>G) c.4330A>G (p.Met1444Val) c.4876A>G (p.Met1626Val) c.4693A>G (p.Met1565Val) c.4414A>G (p.Met1472Val) c.3457A>G (p.Met1153Val) c.3448A>G (p.Met1150Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37020522A>T | CA359486599 | NIPBL | c.5074A>T (p.Met1692Leu) c.1-44056A>T (n.1-44056A>T) c.4330A>T (p.Met1444Leu) c.4876A>T (p.Met1626Leu) c.4693A>T (p.Met1565Leu) c.4414A>T (p.Met1472Leu) c.3457A>T (p.Met1153Leu) c.3448A>T (p.Met1150Leu) | |
| 5 | g.37020523T>A | CA359486603 | NIPBL | c.5075T>A (p.Met1692Lys) c.1-44055T>A (n.1-44055T>A) c.4331T>A (p.Met1444Lys) c.4877T>A (p.Met1626Lys) c.4694T>A (p.Met1565Lys) c.4415T>A (p.Met1472Lys) c.3458T>A (p.Met1153Lys) c.3449T>A (p.Met1150Lys) | |
| 5 | g.37020523T>C | CA359486609 | NIPBL | c.5075T>C (p.Met1692Thr) c.1-44055T>C (n.1-44055T>C) c.4331T>C (p.Met1444Thr) c.4877T>C (p.Met1626Thr) c.4694T>C (p.Met1565Thr) c.4415T>C (p.Met1472Thr) c.3458T>C (p.Met1153Thr) c.3449T>C (p.Met1150Thr) | |
| 5 | g.37020523T>G | CA359486606 | NIPBL | c.5075T>G (p.Met1692Arg) c.1-44055T>G (n.1-44055T>G) c.4331T>G (p.Met1444Arg) c.4877T>G (p.Met1626Arg) c.4694T>G (p.Met1565Arg) c.4415T>G (p.Met1472Arg) c.3458T>G (p.Met1153Arg) c.3449T>G (p.Met1150Arg) | |
| 5 | g.37020524G>A | CA359486612 | NIPBL | c.5076G>A (p.Met1692Ile) c.1-44054G>A (n.1-44054G>A) c.4332G>A (p.Met1444Ile) c.4878G>A (p.Met1626Ile) c.4695G>A (p.Met1565Ile) c.4416G>A (p.Met1472Ile) c.3459G>A (p.Met1153Ile) c.3450G>A (p.Met1150Ile) | COSMIC COSMIC |
| 5 | g.37020524G>C | CA359486615 | NIPBL | c.5076G>C (p.Met1692Ile) c.1-44054G>C (n.1-44054G>C) c.4332G>C (p.Met1444Ile) c.4878G>C (p.Met1626Ile) c.4695G>C (p.Met1565Ile) c.4416G>C (p.Met1472Ile) c.3459G>C (p.Met1153Ile) c.3450G>C (p.Met1150Ile) | |
| 5 | g.37020524G= | CA1539619221 | NIPBL | c.5076G= (p.Met1692=) c.1-44054G= (n.1-44054G=) c.4332G= (p.Met1444=) c.4878G= (p.Met1626=) c.4695G= (p.Met1565=) c.4416G= (p.Met1472=) c.3459G= (p.Met1153=) c.3450G= (p.Met1150=) | |
| 5 | g.37020524G>T | CA359486613 | NIPBL | c.5076G>T (p.Met1692Ile) c.1-44054G>T (n.1-44054G>T) c.4332G>T (p.Met1444Ile) c.4878G>T (p.Met1626Ile) c.4695G>T (p.Met1565Ile) c.4416G>T (p.Met1472Ile) c.3459G>T (p.Met1153Ile) c.3450G>T (p.Met1150Ile) | dbSNP |
| 5 | g.37020525A>C | CA359486619 | NIPBL | c.5077A>C (p.Lys1693Gln) c.1-44053A>C (n.1-44053A>C) c.4333A>C (p.Lys1445Gln) c.4879A>C (p.Lys1627Gln) c.4696A>C (p.Lys1566Gln) c.4417A>C (p.Lys1473Gln) c.3460A>C (p.Lys1154Gln) c.3451A>C (p.Lys1151Gln) | |
| 5 | g.37020525A>G | CA359486622 | NIPBL | c.5077A>G (p.Lys1693Glu) c.1-44053A>G (n.1-44053A>G) c.4333A>G (p.Lys1445Glu) c.4879A>G (p.Lys1627Glu) c.4696A>G (p.Lys1566Glu) c.4417A>G (p.Lys1473Glu) c.3460A>G (p.Lys1154Glu) c.3451A>G (p.Lys1151Glu) | |
| 5 | g.37020525A>T | CA359486623 | NIPBL | c.5077A>T (p.Lys1693Ter) c.1-44053A>T (n.1-44053A>T) c.4333A>T (p.Lys1445Ter) c.4879A>T (p.Lys1627Ter) c.4696A>T (p.Lys1566Ter) c.4417A>T (p.Lys1473Ter) c.3460A>T (p.Lys1154Ter) c.3451A>T (p.Lys1151Ter) | |
| 5 | g.37020526A>C | CA359486626 | NIPBL | c.5078A>C (p.Lys1693Thr) c.1-44052A>C (n.1-44052A>C) c.4334A>C (p.Lys1445Thr) c.4880A>C (p.Lys1627Thr) c.4697A>C (p.Lys1566Thr) c.4418A>C (p.Lys1473Thr) c.3461A>C (p.Lys1154Thr) c.3452A>C (p.Lys1151Thr) | |
| 5 | g.37020526A>G | CA359486629 | NIPBL | c.5078A>G (p.Lys1693Arg) c.1-44052A>G (n.1-44052A>G) c.4334A>G (p.Lys1445Arg) c.4880A>G (p.Lys1627Arg) c.4697A>G (p.Lys1566Arg) c.4418A>G (p.Lys1473Arg) c.3461A>G (p.Lys1154Arg) c.3452A>G (p.Lys1151Arg) | gnomAD v4 |
| 5 | g.37020526A>T | CA359486631 | NIPBL | c.5078A>T (p.Lys1693Ile) c.1-44052A>T (n.1-44052A>T) c.4334A>T (p.Lys1445Ile) c.4880A>T (p.Lys1627Ile) c.4697A>T (p.Lys1566Ile) c.4418A>T (p.Lys1473Ile) c.3461A>T (p.Lys1154Ile) c.3452A>T (p.Lys1151Ile) | |
| 5 | g.37020527A= | CA1539619223 | NIPBL | c.5079A= (p.Lys1693=) c.1-44051A= (n.1-44051A=) c.4335A= (p.Lys1445=) c.4881A= (p.Lys1627=) c.4698A= (p.Lys1566=) c.4419A= (p.Lys1473=) c.3462A= (p.Lys1154=) c.3453A= (p.Lys1151=) | |
| 5 | g.37020527A>C | CA359486635 | NIPBL | c.5079A>C (p.Lys1693Asn) c.1-44051A>C (n.1-44051A>C) c.4335A>C (p.Lys1445Asn) c.4881A>C (p.Lys1627Asn) c.4698A>C (p.Lys1566Asn) c.4419A>C (p.Lys1473Asn) c.3462A>C (p.Lys1154Asn) c.3453A>C (p.Lys1151Asn) | dbSNP |
| 5 | g.37020527A>G | CA443904957 | NIPBL | c.5079A>G (p.Lys1693=) c.1-44051A>G (n.1-44051A>G) c.4335A>G (p.Lys1445=) c.4881A>G (p.Lys1627=) c.4698A>G (p.Lys1566=) c.4419A>G (p.Lys1473=) c.3462A>G (p.Lys1154=) c.3453A>G (p.Lys1151=) | |
| 5 | g.37020527A>T | CA359486638 | NIPBL | c.5079A>T (p.Lys1693Asn) c.1-44051A>T (n.1-44051A>T) c.4335A>T (p.Lys1445Asn) c.4881A>T (p.Lys1627Asn) c.4698A>T (p.Lys1566Asn) c.4419A>T (p.Lys1473Asn) c.3462A>T (p.Lys1154Asn) c.3453A>T (p.Lys1151Asn) | |
| 5 | g.37020528T>A | CA359486641 | NIPBL | c.5080T>A (p.Ser1694Thr) c.1-44050T>A (n.1-44050T>A) c.4336T>A (p.Ser1446Thr) c.4882T>A (p.Ser1628Thr) c.4699T>A (p.Ser1567Thr) c.4420T>A (p.Ser1474Thr) c.3463T>A (p.Ser1155Thr) c.3454T>A (p.Ser1152Thr) | |
| 5 | g.37020528T>C | CA359486643 | NIPBL | c.5080T>C (p.Ser1694Pro) c.1-44050T>C (n.1-44050T>C) c.4336T>C (p.Ser1446Pro) c.4882T>C (p.Ser1628Pro) c.4699T>C (p.Ser1567Pro) c.4420T>C (p.Ser1474Pro) c.3463T>C (p.Ser1155Pro) c.3454T>C (p.Ser1152Pro) | |
| 5 | g.37020528T>G | CA359486646 | NIPBL | c.5080T>G (p.Ser1694Ala) c.1-44050T>G (n.1-44050T>G) c.4336T>G (p.Ser1446Ala) c.4882T>G (p.Ser1628Ala) c.4699T>G (p.Ser1567Ala) c.4420T>G (p.Ser1474Ala) c.3463T>G (p.Ser1155Ala) c.3454T>G (p.Ser1152Ala) | gnomAD v4 |
| 5 | g.37020529C>A | CA359486654 | NIPBL | c.5081C>A (p.Ser1694Ter) c.1-44049C>A (n.1-44049C>A) c.4337C>A (p.Ser1446Ter) c.4883C>A (p.Ser1628Ter) c.4700C>A (p.Ser1567Ter) c.4421C>A (p.Ser1474Ter) c.3464C>A (p.Ser1155Ter) c.3455C>A (p.Ser1152Ter) | |
| 5 | g.37020529C>G | CA359486652 | NIPBL | c.5081C>G (p.Ser1694Ter) c.1-44049C>G (n.1-44049C>G) c.4337C>G (p.Ser1446Ter) c.4883C>G (p.Ser1628Ter) c.4700C>G (p.Ser1567Ter) c.4421C>G (p.Ser1474Ter) c.3464C>G (p.Ser1155Ter) c.3455C>G (p.Ser1152Ter) | |
| 5 | g.37020529C>T | CA359486650 | NIPBL | c.5081C>T (p.Ser1694Leu) c.1-44049C>T (n.1-44049C>T) c.4337C>T (p.Ser1446Leu) c.4883C>T (p.Ser1628Leu) c.4700C>T (p.Ser1567Leu) c.4421C>T (p.Ser1474Leu) c.3464C>T (p.Ser1155Leu) c.3455C>T (p.Ser1152Leu) |