Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020515A>CCA359486553NIPBLc.5067A>C (p.Glu1689Asp)
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)
c.1-44063A>C (p.=)
5g.37020515A>GCA3236697NIPBLc.5067A>G (p.Glu1689=)
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=)
c.1-44063A>G (p.=)
dbSNP ExAC gnomAD
5g.37020515A>TCA359486555NIPBLc.5067A>T (p.Glu1689Asp)
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)
c.1-44063A>T (p.=)
5g.37020516A>CCA359486558NIPBLc.5068A>C (p.Lys1690Gln)
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)
c.1-44062A>C (p.=)
5g.37020516A>GCA359486561NIPBLc.5068A>G (p.Lys1690Glu)
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)
c.1-44062A>G (p.=)
5g.37020516A>TCA359486563NIPBLc.5068A>T (p.Lys1690Ter)
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)
c.1-44062A>T (p.=)
5g.37020517A>CCA359486567NIPBLc.5069A>C (p.Lys1690Thr)
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)
c.1-44061A>C (p.=)
5g.37020517A>GCA359486568NIPBLc.5069A>G (p.Lys1690Arg)
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)
c.1-44061A>G (p.=)
COSMIC
5g.37020517A>TCA359486571NIPBLc.5069A>T (p.Lys1690Ile)
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)
c.1-44061A>T (p.=)
5g.37020518A>CCA359486574NIPBLc.5070A>C (p.Lys1690Asn)
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)
c.1-44060A>C (p.=)
5g.37020518A>GCA443904946NIPBLc.5070A>G (p.Lys1690=)
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=)
c.1-44060A>G (p.=)
5g.37020518A>TCA359486576NIPBLc.5070A>T (p.Lys1690Asn)
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)
c.1-44060A>T (p.=)
5g.37020519G>ACA359486578NIPBLc.5071G>A (p.Ala1691Thr)
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)
c.1-44059G>A (p.=)
gnomAD
5g.37020519G>CCA359486582NIPBLc.5071G>C (p.Ala1691Pro)
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)
c.1-44059G>C (p.=)
5g.37020519G>TCA359486580NIPBLc.5071G>T (p.Ala1691Ser)
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)
c.1-44059G>T (p.=)
COSMIC COSMIC
5g.37020520C>ACA359486590NIPBLc.5072C>A (p.Ala1691Glu)
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)
c.1-44058C>A (p.=)
5g.37020520C>GCA359486594NIPBLc.5072C>G (p.Ala1691Gly)
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)
c.1-44058C>G (p.=)
5g.37020520C>TCA359486591NIPBLc.5072C>T (p.Ala1691Val)
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)
c.1-44058C>T (p.=)
5g.37020521A>CCA443904949NIPBLc.5073A>C (p.Ala1691=)
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=)
c.1-44057A>C (p.=)
5g.37020521A>GCA443904950NIPBLc.5073A>G (p.Ala1691=)
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=)
c.1-44057A>G (p.=)
5g.37020521A>TCA443904951NIPBLc.5073A>T (p.Ala1691=)
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=)
c.1-44057A>T (p.=)
5g.37020522A>CCA359486597NIPBLc.5074A>C (p.Met1692Leu)
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)
c.1-44056A>C (p.=)
5g.37020522A>GCA359486601NIPBLc.5074A>G (p.Met1692Val)
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)
c.1-44056A>G (p.=)
5g.37020522A>TCA359486599NIPBLc.5074A>T (p.Met1692Leu)
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)
c.1-44056A>T (p.=)
5g.37020523T>ACA359486603NIPBLc.5075T>A (p.Met1692Lys)
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)
c.1-44055T>A (p.=)
5g.37020523T>CCA359486609NIPBLc.5075T>C (p.Met1692Thr)
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)
c.1-44055T>C (p.=)
5g.37020523T>GCA359486606NIPBLc.5075T>G (p.Met1692Arg)
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)
c.1-44055T>G (p.=)
5g.37020524G>ACA359486612NIPBLc.5076G>A (p.Met1692Ile)
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)
c.1-44054G>A (p.=)
COSMIC COSMIC
5g.37020524G>CCA359486615NIPBLc.5076G>C (p.Met1692Ile)
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)
c.1-44054G>C (p.=)
5g.37020524G>TCA359486613NIPBLc.5076G>T (p.Met1692Ile)
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)
c.1-44054G>T (p.=)
5g.37020525A>CCA359486619NIPBLc.5077A>C (p.Lys1693Gln)
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)
c.1-44053A>C (p.=)
5g.37020525A>GCA359486622NIPBLc.5077A>G (p.Lys1693Glu)
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)
c.1-44053A>G (p.=)
5g.37020525A>TCA359486623NIPBLc.5077A>T (p.Lys1693Ter)
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)
c.1-44053A>T (p.=)
5g.37020526A>CCA359486626NIPBLc.5078A>C (p.Lys1693Thr)
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)
c.1-44052A>C (p.=)
5g.37020526A>GCA359486629NIPBLc.5078A>G (p.Lys1693Arg)
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)
c.1-44052A>G (p.=)
5g.37020526A>TCA359486631NIPBLc.5078A>T (p.Lys1693Ile)
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)
c.1-44052A>T (p.=)
5g.37020527A>CCA359486635NIPBLc.5079A>C (p.Lys1693Asn)
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)
c.1-44051A>C (p.=)
5g.37020527A>GCA443904957NIPBLc.5079A>G (p.Lys1693=)
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=)
c.1-44051A>G (p.=)
5g.37020527A>TCA359486638NIPBLc.5079A>T (p.Lys1693Asn)
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)
c.1-44051A>T (p.=)
5g.37020528T>ACA359486641NIPBLc.5080T>A (p.Ser1694Thr)
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)
c.1-44050T>A (p.=)
5g.37020528T>CCA359486643NIPBLc.5080T>C (p.Ser1694Pro)
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)
c.1-44050T>C (p.=)
5g.37020528T>GCA359486646NIPBLc.5080T>G (p.Ser1694Ala)
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)
c.1-44050T>G (p.=)
5g.37020529C>ACA359486654NIPBLc.5081C>A (p.Ser1694Ter)
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)
c.1-44049C>A (p.=)
5g.37020529C>GCA359486652NIPBLc.5081C>G (p.Ser1694Ter)
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)
c.1-44049C>G (p.=)
5g.37020529C>TCA359486650NIPBLc.5081C>T (p.Ser1694Leu)
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)
c.1-44049C>T (p.=)
5g.37020530A>CCA443904960NIPBLc.5082A>C (p.Ser1694=)
c.4338A>C (p.Ser1446=)
c.4884A>C (p.Ser1628=)
c.4701A>C (p.Ser1567=)
c.4422A>C (p.Ser1474=)
c.3465A>C (p.Ser1155=)
c.3456A>C (p.Ser1152=)
c.1-44048A>C (p.=)
5g.37020530A>GCA443904961NIPBLc.5082A>G (p.Ser1694=)
c.4338A>G (p.Ser1446=)
c.4884A>G (p.Ser1628=)
c.4701A>G (p.Ser1567=)
c.4422A>G (p.Ser1474=)
c.3465A>G (p.Ser1155=)
c.3456A>G (p.Ser1152=)
c.1-44048A>G (p.=)
5g.37020530A>TCA443904963NIPBLc.5082A>T (p.Ser1694=)
c.4338A>T (p.Ser1446=)
c.4884A>T (p.Ser1628=)
c.4701A>T (p.Ser1567=)
c.4422A>T (p.Ser1474=)
c.3465A>T (p.Ser1155=)
c.3456A>T (p.Ser1152=)
c.1-44048A>T (p.=)
5g.37020531C>ACA359486657NIPBLc.5083C>A (p.Gln1695Lys)
c.4339C>A (p.Gln1447Lys)
c.4885C>A (p.Gln1629Lys)
c.4702C>A (p.Gln1568Lys)
c.4423C>A (p.Gln1475Lys)
c.3466C>A (p.Gln1156Lys)
c.3457C>A (p.Gln1153Lys)
c.1-44047C>A (p.=)
5g.37020531C>GCA359486659NIPBLc.5083C>G (p.Gln1695Glu)
c.4339C>G (p.Gln1447Glu)
c.4885C>G (p.Gln1629Glu)
c.4702C>G (p.Gln1568Glu)
c.4423C>G (p.Gln1475Glu)
c.3466C>G (p.Gln1156Glu)
c.3457C>G (p.Gln1153Glu)
c.1-44047C>G (p.=)

Number of alleles fetched