Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37020519G>ACA359486578NIPBLc.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
5g.37020519G>CCA359486582NIPBLc.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)
5g.37020519G=CA1539619216NIPBLc.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=)
5g.37020519G>TCA359486580NIPBLc.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
5g.37020520C>ACA359486590NIPBLc.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)
5g.37020520C>GCA359486594NIPBLc.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)
5g.37020520C>TCA359486591NIPBLc.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)
5g.37020521A>CCA443904949NIPBLc.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=)
5g.37020521A>GCA443904950NIPBLc.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=)
5g.37020521A>TCA443904951NIPBLc.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=)
5g.37020522A=CA1539619219NIPBLc.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=)
5g.37020522A>CCA359486597NIPBLc.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)
5g.37020522A>GCA359486601NIPBLc.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
5g.37020522A>TCA359486599NIPBLc.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)
5g.37020523T>ACA359486603NIPBLc.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)
5g.37020523T>CCA359486609NIPBLc.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)
5g.37020523T>GCA359486606NIPBLc.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)
5g.37020524G>ACA359486612NIPBLc.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
5g.37020524G>CCA359486615NIPBLc.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)
5g.37020524G=CA1539619221NIPBLc.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=)
5g.37020524G>TCA359486613NIPBLc.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
5g.37020525A>CCA359486619NIPBLc.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)
5g.37020525A>GCA359486622NIPBLc.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)
5g.37020525A>TCA359486623NIPBLc.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)
5g.37020526A>CCA359486626NIPBLc.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)
5g.37020526A>GCA359486629NIPBLc.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
5g.37020526A>TCA359486631NIPBLc.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)
5g.37020527A=CA1539619223NIPBLc.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=)
5g.37020527A>CCA359486635NIPBLc.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
5g.37020527A>GCA443904957NIPBLc.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=)
5g.37020527A>TCA359486638NIPBLc.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)
5g.37020528T>ACA359486641NIPBLc.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)
5g.37020528T>CCA359486643NIPBLc.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)
5g.37020528T>GCA359486646NIPBLc.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
5g.37020529C>ACA359486654NIPBLc.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)
5g.37020529C>GCA359486652NIPBLc.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)
5g.37020529C>TCA359486650NIPBLc.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)
5g.37020530A>CCA443904960NIPBLc.5082A>C (p.Ser1694=)
c.1-44048A>C (n.1-44048A>C)
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=)
5g.37020530A>GCA443904961NIPBLc.5082A>G (p.Ser1694=)
c.1-44048A>G (n.1-44048A>G)
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=)
5g.37020530A>TCA443904963NIPBLc.5082A>T (p.Ser1694=)
c.1-44048A>T (n.1-44048A>T)
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=)
5g.37020531C>ACA359486657NIPBLc.5083C>A (p.Gln1695Lys)
c.1-44047C>A (n.1-44047C>A)
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)
 gnomAD v4
5g.37020531C>GCA359486659NIPBLc.5083C>G (p.Gln1695Glu)
c.1-44047C>G (n.1-44047C>G)
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)
5g.37020531C>TCA359486661NIPBLc.5083C>T (p.Gln1695Ter)
c.1-44047C>T (n.1-44047C>T)
c.4339C>T (p.Gln1447Ter)
c.4885C>T (p.Gln1629Ter)
c.4702C>T (p.Gln1568Ter)
c.4423C>T (p.Gln1475Ter)
c.3466C>T (p.Gln1156Ter)
c.3457C>T (p.Gln1153Ter)
5g.37020532A>CCA359486665NIPBLc.5084A>C (p.Gln1695Pro)
c.1-44046A>C (n.1-44046A>C)
c.4340A>C (p.Gln1447Pro)
c.4886A>C (p.Gln1629Pro)
c.4703A>C (p.Gln1568Pro)
c.4424A>C (p.Gln1475Pro)
c.3467A>C (p.Gln1156Pro)
c.3458A>C (p.Gln1153Pro)
5g.37020532A>GCA359486667NIPBLc.5084A>G (p.Gln1695Arg)
c.1-44046A>G (n.1-44046A>G)
c.4340A>G (p.Gln1447Arg)
c.4886A>G (p.Gln1629Arg)
c.4703A>G (p.Gln1568Arg)
c.4424A>G (p.Gln1475Arg)
c.3467A>G (p.Gln1156Arg)
c.3458A>G (p.Gln1153Arg)
5g.37020532A>TCA359486670NIPBLc.5084A>T (p.Gln1695Leu)
c.1-44046A>T (n.1-44046A>T)
c.4340A>T (p.Gln1447Leu)
c.4886A>T (p.Gln1629Leu)
c.4703A>T (p.Gln1568Leu)
c.4424A>T (p.Gln1475Leu)
c.3467A>T (p.Gln1156Leu)
c.3458A>T (p.Gln1153Leu)
5g.37020535_37020536delCA2580073212NIPBLc.5087_5088del (p.Lys1696ArgfsTer2)
c.1-44043_1-44042del (n.1-44043_1-44042del)
c.4343_4344del (p.Lys1448ArgfsTer2)
c.4889_4890del (p.Lys1630ArgfsTer2)
c.4706_4707del (p.Lys1569ArgfsTer2)
c.4427_4428del (p.Lys1476ArgfsTer2)
c.3470_3471del (p.Lys1157ArgfsTer2)
c.3461_3462del (p.Lys1154ArgfsTer2)
 ClinVar
5g.37020533A=CA1539619225NIPBLc.5085A= (p.Gln1695=)
c.1-44045A= (n.1-44045A=)
c.4341A= (p.Gln1447=)
c.4887A= (p.Gln1629=)
c.4704A= (p.Gln1568=)
c.4425A= (p.Gln1475=)
c.3468A= (p.Gln1156=)
c.3459A= (p.Gln1153=)
5g.37020533A>CCA359486671NIPBLc.5085A>C (p.Gln1695His)
c.1-44045A>C (n.1-44045A>C)
c.4341A>C (p.Gln1447His)
c.4887A>C (p.Gln1629His)
c.4704A>C (p.Gln1568His)
c.4425A>C (p.Gln1475His)
c.3468A>C (p.Gln1156His)
c.3459A>C (p.Gln1153His)
 ClinVar
5g.37020533A>GCA117027973NIPBLc.5085A>G (p.Gln1695=)
c.1-44045A>G (n.1-44045A>G)
c.4341A>G (p.Gln1447=)
c.4887A>G (p.Gln1629=)
c.4704A>G (p.Gln1568=)
c.4425A>G (p.Gln1475=)
c.3468A>G (p.Gln1156=)
c.3459A>G (p.Gln1153=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.37020533A>TCA359486672NIPBLc.5085A>T (p.Gln1695His)
c.1-44045A>T (n.1-44045A>T)
c.4341A>T (p.Gln1447His)
c.4887A>T (p.Gln1629His)
c.4704A>T (p.Gln1568His)
c.4425A>T (p.Gln1475His)
c.3468A>T (p.Gln1156His)
c.3459A>T (p.Gln1153His)
5g.37020534A>CCA359486673NIPBLc.5086A>C (p.Lys1696Gln)
c.1-44044A>C (n.1-44044A>C)
c.4342A>C (p.Lys1448Gln)
c.4888A>C (p.Lys1630Gln)
c.4705A>C (p.Lys1569Gln)
c.4426A>C (p.Lys1476Gln)
c.3469A>C (p.Lys1157Gln)
c.3460A>C (p.Lys1154Gln)
5g.37020534A>GCA359486675NIPBLc.5086A>G (p.Lys1696Glu)
c.1-44044A>G (n.1-44044A>G)
c.4342A>G (p.Lys1448Glu)
c.4888A>G (p.Lys1630Glu)
c.4705A>G (p.Lys1569Glu)
c.4426A>G (p.Lys1476Glu)
c.3469A>G (p.Lys1157Glu)
c.3460A>G (p.Lys1154Glu)
5g.37020534A>TCA359486677NIPBLc.5086A>T (p.Lys1696Ter)
c.1-44044A>T (n.1-44044A>T)
c.4342A>T (p.Lys1448Ter)
c.4888A>T (p.Lys1630Ter)
c.4705A>T (p.Lys1569Ter)
c.4426A>T (p.Lys1476Ter)
c.3469A>T (p.Lys1157Ter)
c.3460A>T (p.Lys1154Ter)
5g.37020535A=CA1539619227NIPBLc.5087A= (p.Lys1696=)
c.1-44043A= (n.1-44043A=)
c.4343A= (p.Lys1448=)
c.4889A= (p.Lys1630=)
c.4706A= (p.Lys1569=)
c.4427A= (p.Lys1476=)
c.3470A= (p.Lys1157=)
c.3461A= (p.Lys1154=)
5g.37020535A>CCA359486684NIPBLc.5087A>C (p.Lys1696Thr)
c.1-44043A>C (n.1-44043A>C)
c.4343A>C (p.Lys1448Thr)
c.4889A>C (p.Lys1630Thr)
c.4706A>C (p.Lys1569Thr)
c.4427A>C (p.Lys1476Thr)
c.3470A>C (p.Lys1157Thr)
c.3461A>C (p.Lys1154Thr)
5g.37020535A>GCA3236698NIPBLc.5087A>G (p.Lys1696Arg)
c.1-44043A>G (n.1-44043A>G)
c.4343A>G (p.Lys1448Arg)
c.4889A>G (p.Lys1630Arg)
c.4706A>G (p.Lys1569Arg)
c.4427A>G (p.Lys1476Arg)
c.3470A>G (p.Lys1157Arg)
c.3461A>G (p.Lys1154Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020535A>TCA359486679NIPBLc.5087A>T (p.Lys1696Ile)
c.1-44043A>T (n.1-44043A>T)
c.4343A>T (p.Lys1448Ile)
c.4889A>T (p.Lys1630Ile)
c.4706A>T (p.Lys1569Ile)
c.4427A>T (p.Lys1476Ile)
c.3470A>T (p.Lys1157Ile)
c.3461A>T (p.Lys1154Ile)
5g.37020536A>CCA359486689NIPBLc.5088A>C (p.Lys1696Asn)
c.1-44042A>C (n.1-44042A>C)
c.4344A>C (p.Lys1448Asn)
c.4890A>C (p.Lys1630Asn)
c.4707A>C (p.Lys1569Asn)
c.4428A>C (p.Lys1476Asn)
c.3471A>C (p.Lys1157Asn)
c.3462A>C (p.Lys1154Asn)
5g.37020536A>GCA443904967NIPBLc.5088A>G (p.Lys1696=)
c.1-44042A>G (n.1-44042A>G)
c.4344A>G (p.Lys1448=)
c.4890A>G (p.Lys1630=)
c.4707A>G (p.Lys1569=)
c.4428A>G (p.Lys1476=)
c.3471A>G (p.Lys1157=)
c.3462A>G (p.Lys1154=)
5g.37020536A>TCA359486687NIPBLc.5088A>T (p.Lys1696Asn)
c.1-44042A>T (n.1-44042A>T)
c.4344A>T (p.Lys1448Asn)
c.4890A>T (p.Lys1630Asn)
c.4707A>T (p.Lys1569Asn)
c.4428A>T (p.Lys1476Asn)
c.3471A>T (p.Lys1157Asn)
c.3462A>T (p.Lys1154Asn)
5g.37020537G>ACA359486694NIPBLc.5089G>A (p.Asp1697Asn)
c.1-44041G>A (n.1-44041G>A)
c.4345G>A (p.Asp1449Asn)
c.4891G>A (p.Asp1631Asn)
c.4708G>A (p.Asp1570Asn)
c.4429G>A (p.Asp1477Asn)
c.3472G>A (p.Asp1158Asn)
c.3463G>A (p.Asp1155Asn)
5g.37020537G>CCA359486697NIPBLc.5089G>C (p.Asp1697His)
c.1-44041G>C (n.1-44041G>C)
c.4345G>C (p.Asp1449His)
c.4891G>C (p.Asp1631His)
c.4708G>C (p.Asp1570His)
c.4429G>C (p.Asp1477His)
c.3472G>C (p.Asp1158His)
c.3463G>C (p.Asp1155His)
 dbSNP gnomAD v4
5g.37020537G=CA1539619230NIPBLc.5089G= (p.Asp1697=)
c.1-44041G= (n.1-44041G=)
c.4345G= (p.Asp1449=)
c.4891G= (p.Asp1631=)
c.4708G= (p.Asp1570=)
c.4429G= (p.Asp1477=)
c.3472G= (p.Asp1158=)
c.3463G= (p.Asp1155=)
5g.37020537G>TCA359486699NIPBLc.5089G>T (p.Asp1697Tyr)
c.1-44041G>T (n.1-44041G>T)
c.4345G>T (p.Asp1449Tyr)
c.4891G>T (p.Asp1631Tyr)
c.4708G>T (p.Asp1570Tyr)
c.4429G>T (p.Asp1477Tyr)
c.3472G>T (p.Asp1158Tyr)
c.3463G>T (p.Asp1155Tyr)
5g.37020538A>CCA359486702NIPBLc.5090A>C (p.Asp1697Ala)
c.1-44040A>C (n.1-44040A>C)
c.4346A>C (p.Asp1449Ala)
c.4892A>C (p.Asp1631Ala)
c.4709A>C (p.Asp1570Ala)
c.4430A>C (p.Asp1477Ala)
c.3473A>C (p.Asp1158Ala)
c.3464A>C (p.Asp1155Ala)
5g.37020538A>GCA359486704NIPBLc.5090A>G (p.Asp1697Gly)
c.1-44040A>G (n.1-44040A>G)
c.4346A>G (p.Asp1449Gly)
c.4892A>G (p.Asp1631Gly)
c.4709A>G (p.Asp1570Gly)
c.4430A>G (p.Asp1477Gly)
c.3473A>G (p.Asp1158Gly)
c.3464A>G (p.Asp1155Gly)
 gnomAD v4
5g.37020538A>TCA359486707NIPBLc.5090A>T (p.Asp1697Val)
c.1-44040A>T (n.1-44040A>T)
c.4346A>T (p.Asp1449Val)
c.4892A>T (p.Asp1631Val)
c.4709A>T (p.Asp1570Val)
c.4430A>T (p.Asp1477Val)
c.3473A>T (p.Asp1158Val)
c.3464A>T (p.Asp1155Val)
 gnomAD v4
5g.37020539T>ACA359486709NIPBLc.5091T>A (p.Asp1697Glu)
c.1-44039T>A (n.1-44039T>A)
c.4347T>A (p.Asp1449Glu)
c.4893T>A (p.Asp1631Glu)
c.4710T>A (p.Asp1570Glu)
c.4431T>A (p.Asp1477Glu)
c.3474T>A (p.Asp1158Glu)
c.3465T>A (p.Asp1155Glu)
5g.37020539T>CCA443904970NIPBLc.5091T>C (p.Asp1697=)
c.1-44039T>C (n.1-44039T>C)
c.4347T>C (p.Asp1449=)
c.4893T>C (p.Asp1631=)
c.4710T>C (p.Asp1570=)
c.4431T>C (p.Asp1477=)
c.3474T>C (p.Asp1158=)
c.3465T>C (p.Asp1155=)
5g.37020539T>GCA359486712NIPBLc.5091T>G (p.Asp1697Glu)
c.1-44039T>G (n.1-44039T>G)
c.4347T>G (p.Asp1449Glu)
c.4893T>G (p.Asp1631Glu)
c.4710T>G (p.Asp1570Glu)
c.4431T>G (p.Asp1477Glu)
c.3474T>G (p.Asp1158Glu)
c.3465T>G (p.Asp1155Glu)
5g.37020539_37020542delinsTGAACA1539619232NIPBLc.5091_5094delinsTGAA (p.Asp1697=)
c.1-44039_1-44036delinsTGAA (n.1-44039_1-44036delinsTGAA)
c.4347_4350delinsTGAA (p.Asp1449=)
c.4893_4896delinsTGAA (p.Asp1631=)
c.4710_4713delinsTGAA (p.Asp1570=)
c.4431_4434delinsTGAA (p.Asp1477=)
c.3474_3477delinsTGAA (p.Asp1158=)
c.3465_3468delinsTGAA (p.Asp1155=)
5g.37020540G>ACA359486715NIPBLc.5092G>A (p.Glu1698Lys)
c.1-44038G>A (n.1-44038G>A)
c.4348G>A (p.Glu1450Lys)
c.4894G>A (p.Glu1632Lys)
c.4711G>A (p.Glu1571Lys)
c.4432G>A (p.Glu1478Lys)
c.3475G>A (p.Glu1159Lys)
c.3466G>A (p.Glu1156Lys)
5g.37020540G>CCA359486716NIPBLc.5092G>C (p.Glu1698Gln)
c.1-44038G>C (n.1-44038G>C)
c.4348G>C (p.Glu1450Gln)
c.4894G>C (p.Glu1632Gln)
c.4711G>C (p.Glu1571Gln)
c.4432G>C (p.Glu1478Gln)
c.3475G>C (p.Glu1159Gln)
c.3466G>C (p.Glu1156Gln)
5g.37020540G>TCA359486719NIPBLc.5092G>T (p.Glu1698Ter)
c.1-44038G>T (n.1-44038G>T)
c.4348G>T (p.Glu1450Ter)
c.4894G>T (p.Glu1632Ter)
c.4711G>T (p.Glu1571Ter)
c.4432G>T (p.Glu1478Ter)
c.3475G>T (p.Glu1159Ter)
c.3466G>T (p.Glu1156Ter)
5g.37020543_37020545delCA559015848NIPBLc.5095_5097del (p.Glu1699del)
c.1-44035_1-44033del (n.1-44035_1-44033del)
c.4351_4353del (p.Glu1451del)
c.4897_4899del (p.Glu1633del)
c.4714_4716del (p.Glu1572del)
c.4435_4437del (p.Glu1479del)
c.3478_3480del (p.Glu1160del)
c.3469_3471del (p.Glu1157del)
 dbSNP gnomAD v2 gnomAD v4
5g.37020541A>CCA359486728NIPBLc.5093A>C (p.Glu1698Ala)
c.1-44037A>C (n.1-44037A>C)
c.4349A>C (p.Glu1450Ala)
c.4895A>C (p.Glu1632Ala)
c.4712A>C (p.Glu1571Ala)
c.4433A>C (p.Glu1478Ala)
c.3476A>C (p.Glu1159Ala)
c.3467A>C (p.Glu1156Ala)
5g.37020541A>GCA359486726NIPBLc.5093A>G (p.Glu1698Gly)
c.1-44037A>G (n.1-44037A>G)
c.4349A>G (p.Glu1450Gly)
c.4895A>G (p.Glu1632Gly)
c.4712A>G (p.Glu1571Gly)
c.4433A>G (p.Glu1478Gly)
c.3476A>G (p.Glu1159Gly)
c.3467A>G (p.Glu1156Gly)
5g.37020541A>TCA359486723NIPBLc.5093A>T (p.Glu1698Val)
c.1-44037A>T (n.1-44037A>T)
c.4349A>T (p.Glu1450Val)
c.4895A>T (p.Glu1632Val)
c.4712A>T (p.Glu1571Val)
c.4433A>T (p.Glu1478Val)
c.3476A>T (p.Glu1159Val)
c.3467A>T (p.Glu1156Val)
5g.37020542A>CCA359486730NIPBLc.5094A>C (p.Glu1698Asp)
c.1-44036A>C (n.1-44036A>C)
c.4350A>C (p.Glu1450Asp)
c.4896A>C (p.Glu1632Asp)
c.4713A>C (p.Glu1571Asp)
c.4434A>C (p.Glu1478Asp)
c.3477A>C (p.Glu1159Asp)
c.3468A>C (p.Glu1156Asp)
5g.37020542A>GCA443904974NIPBLc.5094A>G (p.Glu1698=)
c.1-44036A>G (n.1-44036A>G)
c.4350A>G (p.Glu1450=)
c.4896A>G (p.Glu1632=)
c.4713A>G (p.Glu1571=)
c.4434A>G (p.Glu1478=)
c.3477A>G (p.Glu1159=)
c.3468A>G (p.Glu1156=)
5g.37020542A>TCA359486731NIPBLc.5094A>T (p.Glu1698Asp)
c.1-44036A>T (n.1-44036A>T)
c.4350A>T (p.Glu1450Asp)
c.4896A>T (p.Glu1632Asp)
c.4713A>T (p.Glu1571Asp)
c.4434A>T (p.Glu1478Asp)
c.3477A>T (p.Glu1159Asp)
c.3468A>T (p.Glu1156Asp)
5g.37020543G>ACA359486740NIPBLc.5095G>A (p.Glu1699Lys)
c.1-44035G>A (n.1-44035G>A)
c.4351G>A (p.Glu1451Lys)
c.4897G>A (p.Glu1633Lys)
c.4714G>A (p.Glu1572Lys)
c.4435G>A (p.Glu1479Lys)
c.3478G>A (p.Glu1160Lys)
c.3469G>A (p.Glu1157Lys)
5g.37020543G>CCA359486741NIPBLc.5095G>C (p.Glu1699Gln)
c.1-44035G>C (n.1-44035G>C)
c.4351G>C (p.Glu1451Gln)
c.4897G>C (p.Glu1633Gln)
c.4714G>C (p.Glu1572Gln)
c.4435G>C (p.Glu1479Gln)
c.3478G>C (p.Glu1160Gln)
c.3469G>C (p.Glu1157Gln)
5g.37020543G>TCA359486744NIPBLc.5095G>T (p.Glu1699Ter)
c.1-44035G>T (n.1-44035G>T)
c.4351G>T (p.Glu1451Ter)
c.4897G>T (p.Glu1633Ter)
c.4714G>T (p.Glu1572Ter)
c.4435G>T (p.Glu1479Ter)
c.3478G>T (p.Glu1160Ter)
c.3469G>T (p.Glu1157Ter)
5g.37020544A>CCA359486747NIPBLc.5096A>C (p.Glu1699Ala)
c.1-44034A>C (n.1-44034A>C)
c.4352A>C (p.Glu1451Ala)
c.4898A>C (p.Glu1633Ala)
c.4715A>C (p.Glu1572Ala)
c.4436A>C (p.Glu1479Ala)
c.3479A>C (p.Glu1160Ala)
c.3470A>C (p.Glu1157Ala)
5g.37020544A>GCA359486750NIPBLc.5096A>G (p.Glu1699Gly)
c.1-44034A>G (n.1-44034A>G)
c.4352A>G (p.Glu1451Gly)
c.4898A>G (p.Glu1633Gly)
c.4715A>G (p.Glu1572Gly)
c.4436A>G (p.Glu1479Gly)
c.3479A>G (p.Glu1160Gly)
c.3470A>G (p.Glu1157Gly)
5g.37020544A>TCA359486752NIPBLc.5096A>T (p.Glu1699Val)
c.1-44034A>T (n.1-44034A>T)
c.4352A>T (p.Glu1451Val)
c.4898A>T (p.Glu1633Val)
c.4715A>T (p.Glu1572Val)
c.4436A>T (p.Glu1479Val)
c.3479A>T (p.Glu1160Val)
c.3470A>T (p.Glu1157Val)
5g.37020545A>CCA359486756NIPBLc.5097A>C (p.Glu1699Asp)
c.1-44033A>C (n.1-44033A>C)
c.4353A>C (p.Glu1451Asp)
c.4899A>C (p.Glu1633Asp)
c.4716A>C (p.Glu1572Asp)
c.4437A>C (p.Glu1479Asp)
c.3480A>C (p.Glu1160Asp)
c.3471A>C (p.Glu1157Asp)
5g.37020545A>GCA443904978NIPBLc.5097A>G (p.Glu1699=)
c.1-44033A>G (n.1-44033A>G)
c.4353A>G (p.Glu1451=)
c.4899A>G (p.Glu1633=)
c.4716A>G (p.Glu1572=)
c.4437A>G (p.Glu1479=)
c.3480A>G (p.Glu1160=)
c.3471A>G (p.Glu1157=)
 gnomAD v4
5g.37020545A>TCA359486759NIPBLc.5097A>T (p.Glu1699Asp)
c.1-44033A>T (n.1-44033A>T)
c.4353A>T (p.Glu1451Asp)
c.4899A>T (p.Glu1633Asp)
c.4716A>T (p.Glu1572Asp)
c.4437A>T (p.Glu1479Asp)
c.3480A>T (p.Glu1160Asp)
c.3471A>T (p.Glu1157Asp)
5g.37020546T>ACA359486762NIPBLc.5098T>A (p.Ser1700Thr)
c.1-44032T>A (n.1-44032T>A)
c.4354T>A (p.Ser1452Thr)
c.4900T>A (p.Ser1634Thr)
c.4717T>A (p.Ser1573Thr)
c.4438T>A (p.Ser1480Thr)
c.3481T>A (p.Ser1161Thr)
c.3472T>A (p.Ser1158Thr)
5g.37020546T>CCA359486763NIPBLc.5098T>C (p.Ser1700Pro)
c.1-44032T>C (n.1-44032T>C)
c.4354T>C (p.Ser1452Pro)
c.4900T>C (p.Ser1634Pro)
c.4717T>C (p.Ser1573Pro)
c.4438T>C (p.Ser1480Pro)
c.3481T>C (p.Ser1161Pro)
c.3472T>C (p.Ser1158Pro)
5g.37020546T>GCA359486766NIPBLc.5098T>G (p.Ser1700Ala)
c.1-44032T>G (n.1-44032T>G)
c.4354T>G (p.Ser1452Ala)
c.4900T>G (p.Ser1634Ala)
c.4717T>G (p.Ser1573Ala)
c.4438T>G (p.Ser1480Ala)
c.3481T>G (p.Ser1161Ala)
c.3472T>G (p.Ser1158Ala)
5g.37020547C>ACA359486774NIPBLc.5099C>A (p.Ser1700Ter)
c.1-44031C>A (n.1-44031C>A)
c.4355C>A (p.Ser1452Ter)
c.4901C>A (p.Ser1634Ter)
c.4718C>A (p.Ser1573Ter)
c.4439C>A (p.Ser1480Ter)
c.3482C>A (p.Ser1161Ter)
c.3473C>A (p.Ser1158Ter)
5g.37020547C=CA1539619235NIPBLc.5099C= (p.Ser1700=)
c.1-44031C= (n.1-44031C=)
c.4355C= (p.Ser1452=)
c.4901C= (p.Ser1634=)
c.4718C= (p.Ser1573=)
c.4439C= (p.Ser1480=)
c.3482C= (p.Ser1161=)
c.3473C= (p.Ser1158=)
5g.37020547C>GCA359486772NIPBLc.5099C>G (p.Ser1700Ter)
c.1-44031C>G (n.1-44031C>G)
c.4355C>G (p.Ser1452Ter)
c.4901C>G (p.Ser1634Ter)
c.4718C>G (p.Ser1573Ter)
c.4439C>G (p.Ser1480Ter)
c.3482C>G (p.Ser1161Ter)
c.3473C>G (p.Ser1158Ter)
5g.37020547C>TCA117027979NIPBLc.5099C>T (p.Ser1700Leu)
c.1-44031C>T (n.1-44031C>T)
c.4355C>T (p.Ser1452Leu)
c.4901C>T (p.Ser1634Leu)
c.4718C>T (p.Ser1573Leu)
c.4439C>T (p.Ser1480Leu)
c.3482C>T (p.Ser1161Leu)
c.3473C>T (p.Ser1158Leu)
 dbSNP COSMIC COSMIC
5g.37020548A=CA1539619239NIPBLc.5100A= (p.Ser1700=)
c.1-44030A= (n.1-44030A=)
c.4356A= (p.Ser1452=)
c.4902A= (p.Ser1634=)
c.4719A= (p.Ser1573=)
c.4440A= (p.Ser1480=)
c.3483A= (p.Ser1161=)
c.3474A= (p.Ser1158=)
5g.37020548A>CCA443904984NIPBLc.5100A>C (p.Ser1700=)
c.1-44030A>C (n.1-44030A>C)
c.4356A>C (p.Ser1452=)
c.4902A>C (p.Ser1634=)
c.4719A>C (p.Ser1573=)
c.4440A>C (p.Ser1480=)
c.3483A>C (p.Ser1161=)
c.3474A>C (p.Ser1158=)
5g.37020548A>GCA443904982NIPBLc.5100A>G (p.Ser1700=)
c.1-44030A>G (n.1-44030A>G)
c.4356A>G (p.Ser1452=)
c.4902A>G (p.Ser1634=)
c.4719A>G (p.Ser1573=)
c.4440A>G (p.Ser1480=)
c.3483A>G (p.Ser1161=)
c.3474A>G (p.Ser1158=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020548A>TCA443904983NIPBLc.5100A>T (p.Ser1700=)
c.1-44030A>T (n.1-44030A>T)
c.4356A>T (p.Ser1452=)
c.4902A>T (p.Ser1634=)
c.4719A>T (p.Ser1573=)
c.4440A>T (p.Ser1480=)
c.3483A>T (p.Ser1161=)
c.3474A>T (p.Ser1158=)
 dbSNP gnomAD v3 gnomAD v4
5g.37020549T>ACA359486776NIPBLc.5101T>A (p.Ser1701Thr)
c.1-44029T>A (n.1-44029T>A)
c.4357T>A (p.Ser1453Thr)
c.4903T>A (p.Ser1635Thr)
c.4720T>A (p.Ser1574Thr)
c.4441T>A (p.Ser1481Thr)
c.3484T>A (p.Ser1162Thr)
c.3475T>A (p.Ser1159Thr)
5g.37020549T>CCA3236699NIPBLc.5101T>C (p.Ser1701Pro)
c.1-44029T>C (n.1-44029T>C)
c.4357T>C (p.Ser1453Pro)
c.4903T>C (p.Ser1635Pro)
c.4720T>C (p.Ser1574Pro)
c.4441T>C (p.Ser1481Pro)
c.3484T>C (p.Ser1162Pro)
c.3475T>C (p.Ser1159Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020549T>GCA359486778NIPBLc.5101T>G (p.Ser1701Ala)
c.1-44029T>G (n.1-44029T>G)
c.4357T>G (p.Ser1453Ala)
c.4903T>G (p.Ser1635Ala)
c.4720T>G (p.Ser1574Ala)
c.4441T>G (p.Ser1481Ala)
c.3484T>G (p.Ser1162Ala)
c.3475T>G (p.Ser1159Ala)
5g.37020549T=CA1539619243NIPBLc.5101T= (p.Ser1701=)
c.1-44029T= (n.1-44029T=)
c.4357T= (p.Ser1453=)
c.4903T= (p.Ser1635=)
c.4720T= (p.Ser1574=)
c.4441T= (p.Ser1481=)
c.3484T= (p.Ser1162=)
c.3475T= (p.Ser1159=)
5g.37020550C>ACA359486781NIPBLc.5102C>A (p.Ser1701Tyr)
c.1-44028C>A (n.1-44028C>A)
c.4358C>A (p.Ser1453Tyr)
c.4904C>A (p.Ser1635Tyr)
c.4721C>A (p.Ser1574Tyr)
c.4442C>A (p.Ser1481Tyr)
c.3485C>A (p.Ser1162Tyr)
c.3476C>A (p.Ser1159Tyr)
5g.37020550C>GCA359486784NIPBLc.5102C>G (p.Ser1701Cys)
c.1-44028C>G (n.1-44028C>G)
c.4358C>G (p.Ser1453Cys)
c.4904C>G (p.Ser1635Cys)
c.4721C>G (p.Ser1574Cys)
c.4442C>G (p.Ser1481Cys)
c.3485C>G (p.Ser1162Cys)
c.3476C>G (p.Ser1159Cys)
 gnomAD v4
5g.37020550C>TCA359486785NIPBLc.5102C>T (p.Ser1701Phe)
c.1-44028C>T (n.1-44028C>T)
c.4358C>T (p.Ser1453Phe)
c.4904C>T (p.Ser1635Phe)
c.4721C>T (p.Ser1574Phe)
c.4442C>T (p.Ser1481Phe)
c.3485C>T (p.Ser1162Phe)
c.3476C>T (p.Ser1159Phe)
 gnomAD v4
5g.37020551T>ACA443904989NIPBLc.5103T>A (p.Ser1701=)
c.1-44027T>A (n.1-44027T>A)
c.4359T>A (p.Ser1453=)
c.4905T>A (p.Ser1635=)
c.4722T>A (p.Ser1574=)
c.4443T>A (p.Ser1481=)
c.3486T>A (p.Ser1162=)
c.3477T>A (p.Ser1159=)
5g.37020551T>CCA443904987NIPBLc.5103T>C (p.Ser1701=)
c.1-44027T>C (n.1-44027T>C)
c.4359T>C (p.Ser1453=)
c.4905T>C (p.Ser1635=)
c.4722T>C (p.Ser1574=)
c.4443T>C (p.Ser1481=)
c.3486T>C (p.Ser1162=)
c.3477T>C (p.Ser1159=)
 gnomAD v4
5g.37020551T>GCA443904986NIPBLc.5103T>G (p.Ser1701=)
c.1-44027T>G (n.1-44027T>G)
c.4359T>G (p.Ser1453=)
c.4905T>G (p.Ser1635=)
c.4722T>G (p.Ser1574=)
c.4443T>G (p.Ser1481=)
c.3486T>G (p.Ser1162=)
c.3477T>G (p.Ser1159=)
5g.37020552G>ACA359486791NIPBLc.5104G>A (p.Glu1702Lys)
c.1-44026G>A (n.1-44026G>A)
c.4360G>A (p.Glu1454Lys)
c.4906G>A (p.Glu1636Lys)
c.4723G>A (p.Glu1575Lys)
c.4444G>A (p.Glu1482Lys)
c.3487G>A (p.Glu1163Lys)
c.3478G>A (p.Glu1160Lys)
5g.37020552G>CCA359486788NIPBLc.5104G>C (p.Glu1702Gln)
c.1-44026G>C (n.1-44026G>C)
c.4360G>C (p.Glu1454Gln)
c.4906G>C (p.Glu1636Gln)
c.4723G>C (p.Glu1575Gln)
c.4444G>C (p.Glu1482Gln)
c.3487G>C (p.Glu1163Gln)
c.3478G>C (p.Glu1160Gln)
5g.37020552G>TCA359486789NIPBLc.5104G>T (p.Glu1702Ter)
c.1-44026G>T (n.1-44026G>T)
c.4360G>T (p.Glu1454Ter)
c.4906G>T (p.Glu1636Ter)
c.4723G>T (p.Glu1575Ter)
c.4444G>T (p.Glu1482Ter)
c.3487G>T (p.Glu1163Ter)
c.3478G>T (p.Glu1160Ter)
5g.37020553A>CCA359486794NIPBLc.5105A>C (p.Glu1702Ala)
c.1-44025A>C (n.1-44025A>C)
c.4361A>C (p.Glu1454Ala)
c.4907A>C (p.Glu1636Ala)
c.4724A>C (p.Glu1575Ala)
c.4445A>C (p.Glu1482Ala)
c.3488A>C (p.Glu1163Ala)
c.3479A>C (p.Glu1160Ala)
5g.37020553A>GCA359486797NIPBLc.5105A>G (p.Glu1702Gly)
c.1-44025A>G (n.1-44025A>G)
c.4361A>G (p.Glu1454Gly)
c.4907A>G (p.Glu1636Gly)
c.4724A>G (p.Glu1575Gly)
c.4445A>G (p.Glu1482Gly)
c.3488A>G (p.Glu1163Gly)
c.3479A>G (p.Glu1160Gly)
5g.37020553A>TCA359486799NIPBLc.5105A>T (p.Glu1702Val)
c.1-44025A>T (n.1-44025A>T)
c.4361A>T (p.Glu1454Val)
c.4907A>T (p.Glu1636Val)
c.4724A>T (p.Glu1575Val)
c.4445A>T (p.Glu1482Val)
c.3488A>T (p.Glu1163Val)
c.3479A>T (p.Glu1160Val)
5g.37020554A>CCA359486800NIPBLc.5106A>C (p.Glu1702Asp)
c.1-44024A>C (n.1-44024A>C)
c.4362A>C (p.Glu1454Asp)
c.4908A>C (p.Glu1636Asp)
c.4725A>C (p.Glu1575Asp)
c.4446A>C (p.Glu1482Asp)
c.3489A>C (p.Glu1163Asp)
c.3480A>C (p.Glu1160Asp)
5g.37020554A>GCA443904994NIPBLc.5106A>G (p.Glu1702=)
c.1-44024A>G (n.1-44024A>G)
c.4362A>G (p.Glu1454=)
c.4908A>G (p.Glu1636=)
c.4725A>G (p.Glu1575=)
c.4446A>G (p.Glu1482=)
c.3489A>G (p.Glu1163=)
c.3480A>G (p.Glu1160=)
 COSMIC COSMIC
5g.37020554A>TCA359486802NIPBLc.5106A>T (p.Glu1702Asp)
c.1-44024A>T (n.1-44024A>T)
c.4362A>T (p.Glu1454Asp)
c.4908A>T (p.Glu1636Asp)
c.4725A>T (p.Glu1575Asp)
c.4446A>T (p.Glu1482Asp)
c.3489A>T (p.Glu1163Asp)
c.3480A>T (p.Glu1160Asp)
5g.37020555G>ACA359486806NIPBLc.5107G>A (p.Gly1703Arg)
c.1-44023G>A (n.1-44023G>A)
c.4363G>A (p.Gly1455Arg)
c.4909G>A (p.Gly1637Arg)
c.4726G>A (p.Gly1576Arg)
c.4447G>A (p.Gly1483Arg)
c.3490G>A (p.Gly1164Arg)
c.3481G>A (p.Gly1161Arg)
5g.37020555G>CCA359486804NIPBLc.5107G>C (p.Gly1703Arg)
c.1-44023G>C (n.1-44023G>C)
c.4363G>C (p.Gly1455Arg)
c.4909G>C (p.Gly1637Arg)
c.4726G>C (p.Gly1576Arg)
c.4447G>C (p.Gly1483Arg)
c.3490G>C (p.Gly1164Arg)
c.3481G>C (p.Gly1161Arg)
5g.37020555G>TCA359486805NIPBLc.5107G>T (p.Gly1703Ter)
c.1-44023G>T (n.1-44023G>T)
c.4363G>T (p.Gly1455Ter)
c.4909G>T (p.Gly1637Ter)
c.4726G>T (p.Gly1576Ter)
c.4447G>T (p.Gly1483Ter)
c.3490G>T (p.Gly1164Ter)
c.3481G>T (p.Gly1161Ter)
5g.37020556G>ACA359486808NIPBLc.5108G>A (p.Gly1703Glu)
c.1-44022G>A (n.1-44022G>A)
c.4364G>A (p.Gly1455Glu)
c.4910G>A (p.Gly1637Glu)
c.4727G>A (p.Gly1576Glu)
c.4448G>A (p.Gly1483Glu)
c.3491G>A (p.Gly1164Glu)
c.3482G>A (p.Gly1161Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.37020556G>CCA359486810NIPBLc.5108G>C (p.Gly1703Ala)
c.1-44022G>C (n.1-44022G>C)
c.4364G>C (p.Gly1455Ala)
c.4910G>C (p.Gly1637Ala)
c.4727G>C (p.Gly1576Ala)
c.4448G>C (p.Gly1483Ala)
c.3491G>C (p.Gly1164Ala)
c.3482G>C (p.Gly1161Ala)
5g.37020556G=CA1539619246NIPBLc.5108G= (p.Gly1703=)
c.1-44022G= (n.1-44022G=)
c.4364G= (p.Gly1455=)
c.4910G= (p.Gly1637=)
c.4727G= (p.Gly1576=)
c.4448G= (p.Gly1483=)
c.3491G= (p.Gly1164=)
c.3482G= (p.Gly1161=)
5g.37020556G>TCA359486812NIPBLc.5108G>T (p.Gly1703Val)
c.1-44022G>T (n.1-44022G>T)
c.4364G>T (p.Gly1455Val)
c.4910G>T (p.Gly1637Val)
c.4727G>T (p.Gly1576Val)
c.4448G>T (p.Gly1483Val)
c.3491G>T (p.Gly1164Val)
c.3482G>T (p.Gly1161Val)
5g.37020557A>CCA443904997NIPBLc.5109A>C (p.Gly1703=)
c.1-44021A>C (n.1-44021A>C)
c.4365A>C (p.Gly1455=)
c.4911A>C (p.Gly1637=)
c.4728A>C (p.Gly1576=)
c.4449A>C (p.Gly1483=)
c.3492A>C (p.Gly1164=)
c.3483A>C (p.Gly1161=)
5g.37020557A>GCA443904998NIPBLc.5109A>G (p.Gly1703=)
c.1-44021A>G (n.1-44021A>G)
c.4365A>G (p.Gly1455=)
c.4911A>G (p.Gly1637=)
c.4728A>G (p.Gly1576=)
c.4449A>G (p.Gly1483=)
c.3492A>G (p.Gly1164=)
c.3483A>G (p.Gly1161=)
5g.37020557A>TCA443904999NIPBLc.5109A>T (p.Gly1703=)
c.1-44021A>T (n.1-44021A>T)
c.4365A>T (p.Gly1455=)
c.4911A>T (p.Gly1637=)
c.4728A>T (p.Gly1576=)
c.4449A>T (p.Gly1483=)
c.3492A>T (p.Gly1164=)
c.3483A>T (p.Gly1161=)
5g.37020558A>CCA359486813NIPBLc.5110A>C (p.Thr1704Pro)
c.1-44020A>C (n.1-44020A>C)
c.4366A>C (p.Thr1456Pro)
c.4912A>C (p.Thr1638Pro)
c.4729A>C (p.Thr1577Pro)
c.4450A>C (p.Thr1484Pro)
c.3493A>C (p.Thr1165Pro)
c.3484A>C (p.Thr1162Pro)
5g.37020558A>GCA359486814NIPBLc.5110A>G (p.Thr1704Ala)
c.1-44020A>G (n.1-44020A>G)
c.4366A>G (p.Thr1456Ala)
c.4912A>G (p.Thr1638Ala)
c.4729A>G (p.Thr1577Ala)
c.4450A>G (p.Thr1484Ala)
c.3493A>G (p.Thr1165Ala)
c.3484A>G (p.Thr1162Ala)
 gnomAD v4
5g.37020558A>TCA359486815NIPBLc.5110A>T (p.Thr1704Ser)
c.1-44020A>T (n.1-44020A>T)
c.4366A>T (p.Thr1456Ser)
c.4912A>T (p.Thr1638Ser)
c.4729A>T (p.Thr1577Ser)
c.4450A>T (p.Thr1484Ser)
c.3493A>T (p.Thr1165Ser)
c.3484A>T (p.Thr1162Ser)
5g.37020559C>ACA359486818NIPBLc.5111C>A (p.Thr1704Lys)
c.1-44019C>A (n.1-44019C>A)
c.4367C>A (p.Thr1456Lys)
c.4913C>A (p.Thr1638Lys)
c.4730C>A (p.Thr1577Lys)
c.4451C>A (p.Thr1484Lys)
c.3494C>A (p.Thr1165Lys)
c.3485C>A (p.Thr1162Lys)
5g.37020559C>GCA359486819NIPBLc.5111C>G (p.Thr1704Arg)
c.1-44019C>G (n.1-44019C>G)
c.4367C>G (p.Thr1456Arg)
c.4913C>G (p.Thr1638Arg)
c.4730C>G (p.Thr1577Arg)
c.4451C>G (p.Thr1484Arg)
c.3494C>G (p.Thr1165Arg)
c.3485C>G (p.Thr1162Arg)
5g.37020559C>TCA359486821NIPBLc.5111C>T (p.Thr1704Ile)
c.1-44019C>T (n.1-44019C>T)
c.4367C>T (p.Thr1456Ile)
c.4913C>T (p.Thr1638Ile)
c.4730C>T (p.Thr1577Ile)
c.4451C>T (p.Thr1484Ile)
c.3494C>T (p.Thr1165Ile)
c.3485C>T (p.Thr1162Ile)
5g.37020560A>CCA443905003NIPBLc.5112A>C (p.Thr1704=)
c.1-44018A>C (n.1-44018A>C)
c.4368A>C (p.Thr1456=)
c.4914A>C (p.Thr1638=)
c.4731A>C (p.Thr1577=)
c.4452A>C (p.Thr1484=)
c.3495A>C (p.Thr1165=)
c.3486A>C (p.Thr1162=)
5g.37020560A>GCA443905004NIPBLc.5112A>G (p.Thr1704=)
c.1-44018A>G (n.1-44018A>G)
c.4368A>G (p.Thr1456=)
c.4914A>G (p.Thr1638=)
c.4731A>G (p.Thr1577=)
c.4452A>G (p.Thr1484=)
c.3495A>G (p.Thr1165=)
c.3486A>G (p.Thr1162=)
5g.37020560A>TCA443905005NIPBLc.5112A>T (p.Thr1704=)
c.1-44018A>T (n.1-44018A>T)
c.4368A>T (p.Thr1456=)
c.4914A>T (p.Thr1638=)
c.4731A>T (p.Thr1577=)
c.4452A>T (p.Thr1484=)
c.3495A>T (p.Thr1165=)
c.3486A>T (p.Thr1162=)
5g.37020561C>ACA359486823NIPBLc.5113C>A (p.His1705Asn)
c.1-44017C>A (n.1-44017C>A)
c.4369C>A (p.His1457Asn)
c.4915C>A (p.His1639Asn)
c.4732C>A (p.His1578Asn)
c.4453C>A (p.His1485Asn)
c.3496C>A (p.His1166Asn)
c.3487C>A (p.His1163Asn)
5g.37020561C=CA1539619249NIPBLc.5113C= (p.His1705=)
c.1-44017C= (n.1-44017C=)
c.4369C= (p.His1457=)
c.4915C= (p.His1639=)
c.4732C= (p.His1578=)
c.4453C= (p.His1485=)
c.3496C= (p.His1166=)
c.3487C= (p.His1163=)
5g.37020561C>GCA359486830NIPBLc.5113C>G (p.His1705Asp)
c.1-44017C>G (n.1-44017C>G)
c.4369C>G (p.His1457Asp)
c.4915C>G (p.His1639Asp)
c.4732C>G (p.His1578Asp)
c.4453C>G (p.His1485Asp)
c.3496C>G (p.His1166Asp)
c.3487C>G (p.His1163Asp)
5g.37020561C>TCA3236700NIPBLc.5113C>T (p.His1705Tyr)
c.1-44017C>T (n.1-44017C>T)
c.4369C>T (p.His1457Tyr)
c.4915C>T (p.His1639Tyr)
c.4732C>T (p.His1578Tyr)
c.4453C>T (p.His1485Tyr)
c.3496C>T (p.His1166Tyr)
c.3487C>T (p.His1163Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020562A=CA1539619251NIPBLc.5114A= (p.His1705=)
c.1-44016A= (n.1-44016A=)
c.4370A= (p.His1457=)
c.4916A= (p.His1639=)
c.4733A= (p.His1578=)
c.4454A= (p.His1485=)
c.3497A= (p.His1166=)
c.3488A= (p.His1163=)
5g.37020562A>CCA359486836NIPBLc.5114A>C (p.His1705Pro)
c.1-44016A>C (n.1-44016A>C)
c.4370A>C (p.His1457Pro)
c.4916A>C (p.His1639Pro)
c.4733A>C (p.His1578Pro)
c.4454A>C (p.His1485Pro)
c.3497A>C (p.His1166Pro)
c.3488A>C (p.His1163Pro)
5g.37020562A>GCA359486833NIPBLc.5114A>G (p.His1705Arg)
c.1-44016A>G (n.1-44016A>G)
c.4370A>G (p.His1457Arg)
c.4916A>G (p.His1639Arg)
c.4733A>G (p.His1578Arg)
c.4454A>G (p.His1485Arg)
c.3497A>G (p.His1166Arg)
c.3488A>G (p.His1163Arg)
 dbSNP gnomAD v3 gnomAD v4
5g.37020562A>TCA359486834NIPBLc.5114A>T (p.His1705Leu)
c.1-44016A>T (n.1-44016A>T)
c.4370A>T (p.His1457Leu)
c.4916A>T (p.His1639Leu)
c.4733A>T (p.His1578Leu)
c.4454A>T (p.His1485Leu)
c.3497A>T (p.His1166Leu)
c.3488A>T (p.His1163Leu)
 gnomAD v4
5g.37020563T>ACA359486838NIPBLc.5115T>A (p.His1705Gln)
c.1-44015T>A (n.1-44015T>A)
c.4371T>A (p.His1457Gln)
c.4917T>A (p.His1639Gln)
c.4734T>A (p.His1578Gln)
c.4455T>A (p.His1485Gln)
c.3498T>A (p.His1166Gln)
c.3489T>A (p.His1163Gln)
5g.37020563T>CCA443905007NIPBLc.5115T>C (p.His1705=)
c.1-44015T>C (n.1-44015T>C)
c.4371T>C (p.His1457=)
c.4917T>C (p.His1639=)
c.4734T>C (p.His1578=)
c.4455T>C (p.His1485=)
c.3498T>C (p.His1166=)
c.3489T>C (p.His1163=)
 ClinVar dbSNP
5g.37020563T>GCA359486839NIPBLc.5115T>G (p.His1705Gln)
c.1-44015T>G (n.1-44015T>G)
c.4371T>G (p.His1457Gln)
c.4917T>G (p.His1639Gln)
c.4734T>G (p.His1578Gln)
c.4455T>G (p.His1485Gln)
c.3498T>G (p.His1166Gln)
c.3489T>G (p.His1163Gln)
5g.37020564C>ACA359486841NIPBLc.5116C>A (p.His1706Asn)
c.1-44014C>A (n.1-44014C>A)
c.4372C>A (p.His1458Asn)
c.4918C>A (p.His1640Asn)
c.4735C>A (p.His1579Asn)
c.4456C>A (p.His1486Asn)
c.3499C>A (p.His1167Asn)
c.3490C>A (p.His1164Asn)
5g.37020564C=CA1539619254NIPBLc.5116C= (p.His1706=)
c.1-44014C= (n.1-44014C=)
c.4372C= (p.His1458=)
c.4918C= (p.His1640=)
c.4735C= (p.His1579=)
c.4456C= (p.His1486=)
c.3499C= (p.His1167=)
c.3490C= (p.His1164=)
5g.37020564C>GCA3236701NIPBLc.5116C>G (p.His1706Asp)
c.1-44014C>G (n.1-44014C>G)
c.4372C>G (p.His1458Asp)
c.4918C>G (p.His1640Asp)
c.4735C>G (p.His1579Asp)
c.4456C>G (p.His1486Asp)
c.3499C>G (p.His1167Asp)
c.3490C>G (p.His1164Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020564C>TCA359486843NIPBLc.5116C>T (p.His1706Tyr)
c.1-44014C>T (n.1-44014C>T)
c.4372C>T (p.His1458Tyr)
c.4918C>T (p.His1640Tyr)
c.4735C>T (p.His1579Tyr)
c.4456C>T (p.His1486Tyr)
c.3499C>T (p.His1167Tyr)
c.3490C>T (p.His1164Tyr)
5g.37020565A>CCA359486849NIPBLc.5117A>C (p.His1706Pro)
c.1-44013A>C (n.1-44013A>C)
c.4373A>C (p.His1458Pro)
c.4919A>C (p.His1640Pro)
c.4736A>C (p.His1579Pro)
c.4457A>C (p.His1486Pro)
c.3500A>C (p.His1167Pro)
c.3491A>C (p.His1164Pro)
5g.37020565A>GCA359486848NIPBLc.5117A>G (p.His1706Arg)
c.1-44013A>G (n.1-44013A>G)
c.4373A>G (p.His1458Arg)
c.4919A>G (p.His1640Arg)
c.4736A>G (p.His1579Arg)
c.4457A>G (p.His1486Arg)
c.3500A>G (p.His1167Arg)
c.3491A>G (p.His1164Arg)
5g.37020565A>TCA359486846NIPBLc.5117A>T (p.His1706Leu)
c.1-44013A>T (n.1-44013A>T)
c.4373A>T (p.His1458Leu)
c.4919A>T (p.His1640Leu)
c.4736A>T (p.His1579Leu)
c.4457A>T (p.His1486Leu)
c.3500A>T (p.His1167Leu)
c.3491A>T (p.His1164Leu)
 gnomAD v4
5g.37020566T>ACA359486850NIPBLc.5118T>A (p.His1706Gln)
c.1-44012T>A (n.1-44012T>A)
c.4374T>A (p.His1458Gln)
c.4920T>A (p.His1640Gln)
c.4737T>A (p.His1579Gln)
c.4458T>A (p.His1486Gln)
c.3501T>A (p.His1167Gln)
c.3492T>A (p.His1164Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.37020566T>CCA3236702NIPBLc.5118T>C (p.His1706=)
c.1-44012T>C (n.1-44012T>C)
c.4374T>C (p.His1458=)
c.4920T>C (p.His1640=)
c.4737T>C (p.His1579=)
c.4458T>C (p.His1486=)
c.3501T>C (p.His1167=)
c.3492T>C (p.His1164=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020566T>GCA359486853NIPBLc.5118T>G (p.His1706Gln)
c.1-44012T>G (n.1-44012T>G)
c.4374T>G (p.His1458Gln)
c.4920T>G (p.His1640Gln)
c.4737T>G (p.His1579Gln)
c.4458T>G (p.His1486Gln)
c.3501T>G (p.His1167Gln)
c.3492T>G (p.His1164Gln)
5g.37020566T=CA1539619257NIPBLc.5118T= (p.His1706=)
c.1-44012T= (n.1-44012T=)
c.4374T= (p.His1458=)
c.4920T= (p.His1640=)
c.4737T= (p.His1579=)
c.4458T= (p.His1486=)
c.3501T= (p.His1167=)
c.3492T= (p.His1164=)
5g.37020567G>ACA359486857NIPBLc.5119G>A (p.Ala1707Thr)
c.1-44011G>A (n.1-44011G>A)
c.4375G>A (p.Ala1459Thr)
c.4921G>A (p.Ala1641Thr)
c.4738G>A (p.Ala1580Thr)
c.4459G>A (p.Ala1487Thr)
c.3502G>A (p.Ala1168Thr)
c.3493G>A (p.Ala1165Thr)
5g.37020567G>CCA359486859NIPBLc.5119G>C (p.Ala1707Pro)
c.1-44011G>C (n.1-44011G>C)
c.4375G>C (p.Ala1459Pro)
c.4921G>C (p.Ala1641Pro)
c.4738G>C (p.Ala1580Pro)
c.4459G>C (p.Ala1487Pro)
c.3502G>C (p.Ala1168Pro)
c.3493G>C (p.Ala1165Pro)
5g.37020567G>TCA359486861NIPBLc.5119G>T (p.Ala1707Ser)
c.1-44011G>T (n.1-44011G>T)
c.4375G>T (p.Ala1459Ser)
c.4921G>T (p.Ala1641Ser)
c.4738G>T (p.Ala1580Ser)
c.4459G>T (p.Ala1487Ser)
c.3502G>T (p.Ala1168Ser)
c.3493G>T (p.Ala1165Ser)
5g.37020568C>ACA359486865NIPBLc.5120C>A (p.Ala1707Glu)
c.1-44010C>A (n.1-44010C>A)
c.4376C>A (p.Ala1459Glu)
c.4922C>A (p.Ala1641Glu)
c.4739C>A (p.Ala1580Glu)
c.4460C>A (p.Ala1487Glu)
c.3503C>A (p.Ala1168Glu)
c.3494C>A (p.Ala1165Glu)
5g.37020568C>GCA359486870NIPBLc.5120C>G (p.Ala1707Gly)
c.1-44010C>G (n.1-44010C>G)
c.4376C>G (p.Ala1459Gly)
c.4922C>G (p.Ala1641Gly)
c.4739C>G (p.Ala1580Gly)
c.4460C>G (p.Ala1487Gly)
c.3503C>G (p.Ala1168Gly)
c.3494C>G (p.Ala1165Gly)
5g.37020568C>TCA359486867NIPBLc.5120C>T (p.Ala1707Val)
c.1-44010C>T (n.1-44010C>T)
c.4376C>T (p.Ala1459Val)
c.4922C>T (p.Ala1641Val)
c.4739C>T (p.Ala1580Val)
c.4460C>T (p.Ala1487Val)
c.3503C>T (p.Ala1168Val)
c.3494C>T (p.Ala1165Val)
5g.37020569A>CCA443905008NIPBLc.5121A>C (p.Ala1707=)
c.1-44009A>C (n.1-44009A>C)
c.4377A>C (p.Ala1459=)
c.4923A>C (p.Ala1641=)
c.4740A>C (p.Ala1580=)
c.4461A>C (p.Ala1487=)
c.3504A>C (p.Ala1168=)
c.3495A>C (p.Ala1165=)
5g.37020569A>GCA443905009NIPBLc.5121A>G (p.Ala1707=)
c.1-44009A>G (n.1-44009A>G)
c.4377A>G (p.Ala1459=)
c.4923A>G (p.Ala1641=)
c.4740A>G (p.Ala1580=)
c.4461A>G (p.Ala1487=)
c.3504A>G (p.Ala1168=)
c.3495A>G (p.Ala1165=)
5g.37020569A>TCA443905010NIPBLc.5121A>T (p.Ala1707=)
c.1-44009A>T (n.1-44009A>T)
c.4377A>T (p.Ala1459=)
c.4923A>T (p.Ala1641=)
c.4740A>T (p.Ala1580=)
c.4461A>T (p.Ala1487=)
c.3504A>T (p.Ala1168=)
c.3495A>T (p.Ala1165=)
5g.37020570A>CCA359486871NIPBLc.5122A>C (p.Lys1708Gln)
c.1-44008A>C (n.1-44008A>C)
c.4378A>C (p.Lys1460Gln)
c.4924A>C (p.Lys1642Gln)
c.4741A>C (p.Lys1581Gln)
c.4462A>C (p.Lys1488Gln)
c.3505A>C (p.Lys1169Gln)
c.3496A>C (p.Lys1166Gln)
5g.37020570A>GCA359486873NIPBLc.5122A>G (p.Lys1708Glu)
c.1-44008A>G (n.1-44008A>G)
c.4378A>G (p.Lys1460Glu)
c.4924A>G (p.Lys1642Glu)
c.4741A>G (p.Lys1581Glu)
c.4462A>G (p.Lys1488Glu)
c.3505A>G (p.Lys1169Glu)
c.3496A>G (p.Lys1166Glu)
5g.37020570A>TCA359486875NIPBLc.5122A>T (p.Lys1708Ter)
c.1-44008A>T (n.1-44008A>T)
c.4378A>T (p.Lys1460Ter)
c.4924A>T (p.Lys1642Ter)
c.4741A>T (p.Lys1581Ter)
c.4462A>T (p.Lys1488Ter)
c.3505A>T (p.Lys1169Ter)
c.3496A>T (p.Lys1166Ter)
5g.37020571A>CCA359486879NIPBLc.5123A>C (p.Lys1708Thr)
c.1-44007A>C (n.1-44007A>C)
c.4379A>C (p.Lys1460Thr)
c.4925A>C (p.Lys1642Thr)
c.4742A>C (p.Lys1581Thr)
c.4463A>C (p.Lys1488Thr)
c.3506A>C (p.Lys1169Thr)
c.3497A>C (p.Lys1166Thr)
5g.37020571A>GCA359486881NIPBLc.5123A>G (p.Lys1708Arg)
c.1-44007A>G (n.1-44007A>G)
c.4379A>G (p.Lys1460Arg)
c.4925A>G (p.Lys1642Arg)
c.4742A>G (p.Lys1581Arg)
c.4463A>G (p.Lys1488Arg)
c.3506A>G (p.Lys1169Arg)
c.3497A>G (p.Lys1166Arg)
5g.37020571A>TCA359486882NIPBLc.5123A>T (p.Lys1708Met)
c.1-44007A>T (n.1-44007A>T)
c.4379A>T (p.Lys1460Met)
c.4925A>T (p.Lys1642Met)
c.4742A>T (p.Lys1581Met)
c.4463A>T (p.Lys1488Met)
c.3506A>T (p.Lys1169Met)
c.3497A>T (p.Lys1166Met)
5g.37020572G>ACA443905011NIPBLc.5124G>A (p.Lys1708=)
c.1-44006G>A (n.1-44006G>A)
c.4380G>A (p.Lys1460=)
c.4926G>A (p.Lys1642=)
c.4743G>A (p.Lys1581=)
c.4464G>A (p.Lys1488=)
c.3507G>A (p.Lys1169=)
c.3498G>A (p.Lys1166=)
5g.37020572G>CCA359486884NIPBLc.5124G>C (p.Lys1708Asn)
c.1-44006G>C (n.1-44006G>C)
c.4380G>C (p.Lys1460Asn)
c.4926G>C (p.Lys1642Asn)
c.4743G>C (p.Lys1581Asn)
c.4464G>C (p.Lys1488Asn)
c.3507G>C (p.Lys1169Asn)
c.3498G>C (p.Lys1166Asn)
 gnomAD v4
5g.37020572G>TCA359486887NIPBLc.5124G>T (p.Lys1708Asn)
c.1-44006G>T (n.1-44006G>T)
c.4380G>T (p.Lys1460Asn)
c.4926G>T (p.Lys1642Asn)
c.4743G>T (p.Lys1581Asn)
c.4464G>T (p.Lys1488Asn)
c.3507G>T (p.Lys1169Asn)
c.3498G>T (p.Lys1166Asn)
5g.37020573G>ACA359486889NIPBLc.5125G>A (p.Glu1709Lys)
c.1-44005G>A (n.1-44005G>A)
c.4381G>A (p.Glu1461Lys)
c.4927G>A (p.Glu1643Lys)
c.4744G>A (p.Glu1582Lys)
c.4465G>A (p.Glu1489Lys)
c.3508G>A (p.Glu1170Lys)
c.3499G>A (p.Glu1167Lys)
5g.37020573G>CCA359486891NIPBLc.5125G>C (p.Glu1709Gln)
c.1-44005G>C (n.1-44005G>C)
c.4381G>C (p.Glu1461Gln)
c.4927G>C (p.Glu1643Gln)
c.4744G>C (p.Glu1582Gln)
c.4465G>C (p.Glu1489Gln)
c.3508G>C (p.Glu1170Gln)
c.3499G>C (p.Glu1167Gln)
 dbSNP gnomAD v3 gnomAD v4
5g.37020573G=CA1539619259NIPBLc.5125G= (p.Glu1709=)
c.1-44005G= (n.1-44005G=)
c.4381G= (p.Glu1461=)
c.4927G= (p.Glu1643=)
c.4744G= (p.Glu1582=)
c.4465G= (p.Glu1489=)
c.3508G= (p.Glu1170=)
c.3499G= (p.Glu1167=)
5g.37020573G>TCA359486895NIPBLc.5125G>T (p.Glu1709Ter)
c.1-44005G>T (n.1-44005G>T)
c.4381G>T (p.Glu1461Ter)
c.4927G>T (p.Glu1643Ter)
c.4744G>T (p.Glu1582Ter)
c.4465G>T (p.Glu1489Ter)
c.3508G>T (p.Glu1170Ter)
c.3499G>T (p.Glu1167Ter)
5g.37020574A>CCA359486897NIPBLc.5126A>C (p.Glu1709Ala)
c.1-44004A>C (n.1-44004A>C)
c.4382A>C (p.Glu1461Ala)
c.4928A>C (p.Glu1643Ala)
c.4745A>C (p.Glu1582Ala)
c.4466A>C (p.Glu1489Ala)
c.3509A>C (p.Glu1170Ala)
c.3500A>C (p.Glu1167Ala)
 ClinVar
5g.37020574A>GCA359486901NIPBLc.5126A>G (p.Glu1709Gly)
c.1-44004A>G (n.1-44004A>G)
c.4382A>G (p.Glu1461Gly)
c.4928A>G (p.Glu1643Gly)
c.4745A>G (p.Glu1582Gly)
c.4466A>G (p.Glu1489Gly)
c.3509A>G (p.Glu1170Gly)
c.3500A>G (p.Glu1167Gly)
5g.37020574A>TCA359486900NIPBLc.5126A>T (p.Glu1709Val)
c.1-44004A>T (n.1-44004A>T)
c.4382A>T (p.Glu1461Val)
c.4928A>T (p.Glu1643Val)
c.4745A>T (p.Glu1582Val)
c.4466A>T (p.Glu1489Val)
c.3509A>T (p.Glu1170Val)
c.3500A>T (p.Glu1167Val)
5g.37020575A=CA1539619260NIPBLc.5127A= (p.Glu1709=)
c.1-44003A= (n.1-44003A=)
c.4383A= (p.Glu1461=)
c.4929A= (p.Glu1643=)
c.4746A= (p.Glu1582=)
c.4467A= (p.Glu1489=)
c.3510A= (p.Glu1170=)
c.3501A= (p.Glu1167=)
5g.37020575A>CCA359486904NIPBLc.5127A>C (p.Glu1709Asp)
c.1-44003A>C (n.1-44003A>C)
c.4383A>C (p.Glu1461Asp)
c.4929A>C (p.Glu1643Asp)
c.4746A>C (p.Glu1582Asp)
c.4467A>C (p.Glu1489Asp)
c.3510A>C (p.Glu1170Asp)
c.3501A>C (p.Glu1167Asp)
5g.37020575A>GCA443905012NIPBLc.5127A>G (p.Glu1709=)
c.1-44003A>G (n.1-44003A>G)
c.4383A>G (p.Glu1461=)
c.4929A>G (p.Glu1643=)
c.4746A>G (p.Glu1582=)
c.4467A>G (p.Glu1489=)
c.3510A>G (p.Glu1170=)
c.3501A>G (p.Glu1167=)
 dbSNP gnomAD v2 gnomAD v4
5g.37020575A>TCA359486907NIPBLc.5127A>T (p.Glu1709Asp)
c.1-44003A>T (n.1-44003A>T)
c.4383A>T (p.Glu1461Asp)
c.4929A>T (p.Glu1643Asp)
c.4746A>T (p.Glu1582Asp)
c.4467A>T (p.Glu1489Asp)
c.3510A>T (p.Glu1170Asp)
c.3501A>T (p.Glu1167Asp)
5g.37020576A=CA1539619261NIPBLc.5128A= (p.Ile1710=)
c.1-44002A= (n.1-44002A=)
c.4384A= (p.Ile1462=)
c.4930A= (p.Ile1644=)
c.4747A= (p.Ile1583=)
c.4468A= (p.Ile1490=)
c.3511A= (p.Ile1171=)
c.3502A= (p.Ile1168=)
5g.37020576A>CCA359486912NIPBLc.5128A>C (p.Ile1710Leu)
c.1-44002A>C (n.1-44002A>C)
c.4384A>C (p.Ile1462Leu)
c.4930A>C (p.Ile1644Leu)
c.4747A>C (p.Ile1583Leu)
c.4468A>C (p.Ile1490Leu)
c.3511A>C (p.Ile1171Leu)
c.3502A>C (p.Ile1168Leu)
5g.37020576A>GCA359486916NIPBLc.5128A>G (p.Ile1710Val)
c.1-44002A>G (n.1-44002A>G)
c.4384A>G (p.Ile1462Val)
c.4930A>G (p.Ile1644Val)
c.4747A>G (p.Ile1583Val)
c.4468A>G (p.Ile1490Val)
c.3511A>G (p.Ile1171Val)
c.3502A>G (p.Ile1168Val)
 dbSNP gnomAD v3 gnomAD v4
5g.37020576A>TCA359486913NIPBLc.5128A>T (p.Ile1710Phe)
c.1-44002A>T (n.1-44002A>T)
c.4384A>T (p.Ile1462Phe)
c.4930A>T (p.Ile1644Phe)
c.4747A>T (p.Ile1583Phe)
c.4468A>T (p.Ile1490Phe)
c.3511A>T (p.Ile1171Phe)
c.3502A>T (p.Ile1168Phe)
5g.37020577T>ACA359486919NIPBLc.5129T>A (p.Ile1710Asn)
c.1-44001T>A (n.1-44001T>A)
c.4385T>A (p.Ile1462Asn)
c.4931T>A (p.Ile1644Asn)
c.4748T>A (p.Ile1583Asn)
c.4469T>A (p.Ile1490Asn)
c.3512T>A (p.Ile1171Asn)
c.3503T>A (p.Ile1168Asn)
5g.37020577T>CCA359486921NIPBLc.5129T>C (p.Ile1710Thr)
c.1-44001T>C (n.1-44001T>C)
c.4385T>C (p.Ile1462Thr)
c.4931T>C (p.Ile1644Thr)
c.4748T>C (p.Ile1583Thr)
c.4469T>C (p.Ile1490Thr)
c.3512T>C (p.Ile1171Thr)
c.3503T>C (p.Ile1168Thr)
5g.37020577T>GCA359486923NIPBLc.5129T>G (p.Ile1710Ser)
c.1-44001T>G (n.1-44001T>G)
c.4385T>G (p.Ile1462Ser)
c.4931T>G (p.Ile1644Ser)
c.4748T>G (p.Ile1583Ser)
c.4469T>G (p.Ile1490Ser)
c.3512T>G (p.Ile1171Ser)
c.3503T>G (p.Ile1168Ser)
5g.37020578T>ACA443905013NIPBLc.5130T>A (p.Ile1710=)
c.1-44000T>A (n.1-44000T>A)
c.4386T>A (p.Ile1462=)
c.4932T>A (p.Ile1644=)
c.4749T>A (p.Ile1583=)
c.4470T>A (p.Ile1490=)
c.3513T>A (p.Ile1171=)
c.3504T>A (p.Ile1168=)
5g.37020578T>CCA443905014NIPBLc.5130T>C (p.Ile1710=)
c.1-44000T>C (n.1-44000T>C)
c.4386T>C (p.Ile1462=)
c.4932T>C (p.Ile1644=)
c.4749T>C (p.Ile1583=)
c.4470T>C (p.Ile1490=)
c.3513T>C (p.Ile1171=)
c.3504T>C (p.Ile1168=)
5g.37020578T>GCA359486926NIPBLc.5130T>G (p.Ile1710Met)
c.1-44000T>G (n.1-44000T>G)
c.4386T>G (p.Ile1462Met)
c.4932T>G (p.Ile1644Met)
c.4749T>G (p.Ile1583Met)
c.4470T>G (p.Ile1490Met)
c.3513T>G (p.Ile1171Met)
c.3504T>G (p.Ile1168Met)
5g.37020579G>ACA359486929NIPBLc.5131G>A (p.Glu1711Lys)
c.1-43999G>A (n.1-43999G>A)
c.4387G>A (p.Glu1463Lys)
c.4933G>A (p.Glu1645Lys)
c.4750G>A (p.Glu1584Lys)
c.4471G>A (p.Glu1491Lys)
c.3514G>A (p.Glu1172Lys)
c.3505G>A (p.Glu1169Lys)
5g.37020579G>CCA359486932NIPBLc.5131G>C (p.Glu1711Gln)
c.1-43999G>C (n.1-43999G>C)
c.4387G>C (p.Glu1463Gln)
c.4933G>C (p.Glu1645Gln)
c.4750G>C (p.Glu1584Gln)
c.4471G>C (p.Glu1491Gln)
c.3514G>C (p.Glu1172Gln)
c.3505G>C (p.Glu1169Gln)
5g.37020579G>TCA359486933NIPBLc.5131G>T (p.Glu1711Ter)
c.1-43999G>T (n.1-43999G>T)
c.4387G>T (p.Glu1463Ter)
c.4933G>T (p.Glu1645Ter)
c.4750G>T (p.Glu1584Ter)
c.4471G>T (p.Glu1491Ter)
c.3514G>T (p.Glu1172Ter)
c.3505G>T (p.Glu1169Ter)
5g.37020580A>CCA359486936NIPBLc.5132A>C (p.Glu1711Ala)
c.1-43998A>C (n.1-43998A>C)
c.4388A>C (p.Glu1463Ala)
c.4934A>C (p.Glu1645Ala)
c.4751A>C (p.Glu1584Ala)
c.4472A>C (p.Glu1491Ala)
c.3515A>C (p.Glu1172Ala)
c.3506A>C (p.Glu1169Ala)
5g.37020580A>GCA359486939NIPBLc.5132A>G (p.Glu1711Gly)
c.1-43998A>G (n.1-43998A>G)
c.4388A>G (p.Glu1463Gly)
c.4934A>G (p.Glu1645Gly)
c.4751A>G (p.Glu1584Gly)
c.4472A>G (p.Glu1491Gly)
c.3515A>G (p.Glu1172Gly)
c.3506A>G (p.Glu1169Gly)
5g.37020580A>TCA359486940NIPBLc.5132A>T (p.Glu1711Val)
c.1-43998A>T (n.1-43998A>T)
c.4388A>T (p.Glu1463Val)
c.4934A>T (p.Glu1645Val)
c.4751A>T (p.Glu1584Val)
c.4472A>T (p.Glu1491Val)
c.3515A>T (p.Glu1172Val)
c.3506A>T (p.Glu1169Val)
5g.37020581G>ACA443905015NIPBLc.5133G>A (p.Glu1711=)
c.1-43997G>A (n.1-43997G>A)
c.4389G>A (p.Glu1463=)
c.4935G>A (p.Glu1645=)
c.4752G>A (p.Glu1584=)
c.4473G>A (p.Glu1491=)
c.3516G>A (p.Glu1172=)
c.3507G>A (p.Glu1169=)
5g.37020581G>CCA359486943NIPBLc.5133G>C (p.Glu1711Asp)
c.1-43997G>C (n.1-43997G>C)
c.4389G>C (p.Glu1463Asp)
c.4935G>C (p.Glu1645Asp)
c.4752G>C (p.Glu1584Asp)
c.4473G>C (p.Glu1491Asp)
c.3516G>C (p.Glu1172Asp)
c.3507G>C (p.Glu1169Asp)
5g.37020581G>TCA359486946NIPBLc.5133G>T (p.Glu1711Asp)
c.1-43997G>T (n.1-43997G>T)
c.4389G>T (p.Glu1463Asp)
c.4935G>T (p.Glu1645Asp)
c.4752G>T (p.Glu1584Asp)
c.4473G>T (p.Glu1491Asp)
c.3516G>T (p.Glu1172Asp)
c.3507G>T (p.Glu1169Asp)
5g.37020582A>CCA359486949NIPBLc.5134A>C (p.Thr1712Pro)
c.1-43996A>C (n.1-43996A>C)
c.4390A>C (p.Thr1464Pro)
c.4936A>C (p.Thr1646Pro)
c.4753A>C (p.Thr1585Pro)
c.4474A>C (p.Thr1492Pro)
c.3517A>C (p.Thr1173Pro)
c.3508A>C (p.Thr1170Pro)
5g.37020582A>GCA359486955NIPBLc.5134A>G (p.Thr1712Ala)
c.1-43996A>G (n.1-43996A>G)
c.4390A>G (p.Thr1464Ala)
c.4936A>G (p.Thr1646Ala)
c.4753A>G (p.Thr1585Ala)
c.4474A>G (p.Thr1492Ala)
c.3517A>G (p.Thr1173Ala)
c.3508A>G (p.Thr1170Ala)
5g.37020582A>TCA359486952NIPBLc.5134A>T (p.Thr1712Ser)
c.1-43996A>T (n.1-43996A>T)
c.4390A>T (p.Thr1464Ser)
c.4936A>T (p.Thr1646Ser)
c.4753A>T (p.Thr1585Ser)
c.4474A>T (p.Thr1492Ser)
c.3517A>T (p.Thr1173Ser)
c.3508A>T (p.Thr1170Ser)
5g.37020583C>ACA359486957NIPBLc.5135C>A (p.Thr1712Lys)
c.1-43995C>A (n.1-43995C>A)
c.4391C>A (p.Thr1464Lys)
c.4937C>A (p.Thr1646Lys)
c.4754C>A (p.Thr1585Lys)
c.4475C>A (p.Thr1492Lys)
c.3518C>A (p.Thr1173Lys)
c.3509C>A (p.Thr1170Lys)
 gnomAD v4
5g.37020583C>GCA359486959NIPBLc.5135C>G (p.Thr1712Arg)
c.1-43995C>G (n.1-43995C>G)
c.4391C>G (p.Thr1464Arg)
c.4937C>G (p.Thr1646Arg)
c.4754C>G (p.Thr1585Arg)
c.4475C>G (p.Thr1492Arg)
c.3518C>G (p.Thr1173Arg)
c.3509C>G (p.Thr1170Arg)
5g.37020583C>TCA359486962NIPBLc.5135C>T (p.Thr1712Ile)
c.1-43995C>T (n.1-43995C>T)
c.4391C>T (p.Thr1464Ile)
c.4937C>T (p.Thr1646Ile)
c.4754C>T (p.Thr1585Ile)
c.4475C>T (p.Thr1492Ile)
c.3518C>T (p.Thr1173Ile)
c.3509C>T (p.Thr1170Ile)
 gnomAD v4
5g.37020584A>CCA443905016NIPBLc.5136A>C (p.Thr1712=)
c.1-43994A>C (n.1-43994A>C)
c.4392A>C (p.Thr1464=)
c.4938A>C (p.Thr1646=)
c.4755A>C (p.Thr1585=)
c.4476A>C (p.Thr1492=)
c.3519A>C (p.Thr1173=)
c.3510A>C (p.Thr1170=)
5g.37020584A>GCA443905017NIPBLc.5136A>G (p.Thr1712=)
c.1-43994A>G (n.1-43994A>G)
c.4392A>G (p.Thr1464=)
c.4938A>G (p.Thr1646=)
c.4755A>G (p.Thr1585=)
c.4476A>G (p.Thr1492=)
c.3519A>G (p.Thr1173=)
c.3510A>G (p.Thr1170=)
5g.37020584A>TCA443905018NIPBLc.5136A>T (p.Thr1712=)
c.1-43994A>T (n.1-43994A>T)
c.4392A>T (p.Thr1464=)
c.4938A>T (p.Thr1646=)
c.4755A>T (p.Thr1585=)
c.4476A>T (p.Thr1492=)
c.3519A>T (p.Thr1173=)
c.3510A>T (p.Thr1170=)
5g.37020585A=CA1539619262NIPBLc.5137A= (p.Thr1713=)
c.1-43993A= (n.1-43993A=)
c.4393A= (p.Thr1465=)
c.4939A= (p.Thr1647=)
c.4756A= (p.Thr1586=)
c.4477A= (p.Thr1493=)
c.3520A= (p.Thr1174=)
c.3511A= (p.Thr1171=)
5g.37020585A>CCA359486967NIPBLc.5137A>C (p.Thr1713Pro)
c.1-43993A>C (n.1-43993A>C)
c.4393A>C (p.Thr1465Pro)
c.4939A>C (p.Thr1647Pro)
c.4756A>C (p.Thr1586Pro)
c.4477A>C (p.Thr1493Pro)
c.3520A>C (p.Thr1174Pro)
c.3511A>C (p.Thr1171Pro)
5g.37020585A>GCA3236703NIPBLc.5137A>G (p.Thr1713Ala)
c.1-43993A>G (n.1-43993A>G)
c.4393A>G (p.Thr1465Ala)
c.4939A>G (p.Thr1647Ala)
c.4756A>G (p.Thr1586Ala)
c.4477A>G (p.Thr1493Ala)
c.3520A>G (p.Thr1174Ala)
c.3511A>G (p.Thr1171Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.37020585A>TCA359486971NIPBLc.5137A>T (p.Thr1713Ser)
c.1-43993A>T (n.1-43993A>T)
c.4393A>T (p.Thr1465Ser)
c.4939A>T (p.Thr1647Ser)
c.4756A>T (p.Thr1586Ser)
c.4477A>T (p.Thr1493Ser)
c.3520A>T (p.Thr1174Ser)
c.3511A>T (p.Thr1171Ser)
 gnomAD v4
5g.37020586C>ACA359486973NIPBLc.5138C>A (p.Thr1713Asn)
c.1-43992C>A (n.1-43992C>A)
c.4394C>A (p.Thr1465Asn)
c.4940C>A (p.Thr1647Asn)
c.4757C>A (p.Thr1586Asn)
c.4478C>A (p.Thr1493Asn)
c.3521C>A (p.Thr1174Asn)
c.3512C>A (p.Thr1171Asn)
5g.37020586C>GCA359486975NIPBLc.5138C>G (p.Thr1713Ser)
c.1-43992C>G (n.1-43992C>G)
c.4394C>G (p.Thr1465Ser)
c.4940C>G (p.Thr1647Ser)
c.4757C>G (p.Thr1586Ser)
c.4478C>G (p.Thr1493Ser)
c.3521C>G (p.Thr1174Ser)
c.3512C>G (p.Thr1171Ser)
5g.37020586C>TCA359486978NIPBLc.5138C>T (p.Thr1713Ile)
c.1-43992C>T (n.1-43992C>T)
c.4394C>T (p.Thr1465Ile)
c.4940C>T (p.Thr1647Ile)
c.4757C>T (p.Thr1586Ile)
c.4478C>T (p.Thr1493Ile)
c.3521C>T (p.Thr1174Ile)
c.3512C>T (p.Thr1171Ile)
 gnomAD v4
5g.37020587T>ACA443905019NIPBLc.5139T>A (p.Thr1713=)
c.1-43991T>A (n.1-43991T>A)
c.4395T>A (p.Thr1465=)
c.4941T>A (p.Thr1647=)
c.4758T>A (p.Thr1586=)
c.4479T>A (p.Thr1493=)
c.3522T>A (p.Thr1174=)
c.3513T>A (p.Thr1171=)
5g.37020587T>CCA443905021NIPBLc.5139T>C (p.Thr1713=)
c.1-43991T>C (n.1-43991T>C)
c.4395T>C (p.Thr1465=)
c.4941T>C (p.Thr1647=)
c.4758T>C (p.Thr1586=)
c.4479T>C (p.Thr1493=)
c.3522T>C (p.Thr1174=)
c.3513T>C (p.Thr1171=)
5g.37020587T>GCA443905020NIPBLc.5139T>G (p.Thr1713=)
c.1-43991T>G (n.1-43991T>G)
c.4395T>G (p.Thr1465=)
c.4941T>G (p.Thr1647=)
c.4758T>G (p.Thr1586=)
c.4479T>G (p.Thr1493=)
c.3522T>G (p.Thr1174=)
c.3513T>G (p.Thr1171=)
5g.37020588G>ACA359486982NIPBLc.5140G>A (p.Gly1714Ser)
c.1-43990G>A (n.1-43990G>A)
c.4396G>A (p.Gly1466Ser)
c.4942G>A (p.Gly1648Ser)
c.4759G>A (p.Gly1587Ser)
c.4480G>A (p.Gly1494Ser)
c.3523G>A (p.Gly1175Ser)
c.3514G>A (p.Gly1172Ser)
 gnomAD v4
5g.37020588G>CCA359486984NIPBLc.5140G>C (p.Gly1714Arg)
c.1-43990G>C (n.1-43990G>C)
c.4396G>C (p.Gly1466Arg)
c.4942G>C (p.Gly1648Arg)
c.4759G>C (p.Gly1587Arg)
c.4480G>C (p.Gly1494Arg)
c.3523G>C (p.Gly1175Arg)
c.3514G>C (p.Gly1172Arg)
5g.37020588G>TCA359486980NIPBLc.5140G>T (p.Gly1714Cys)
c.1-43990G>T (n.1-43990G>T)
c.4396G>T (p.Gly1466Cys)
c.4942G>T (p.Gly1648Cys)
c.4759G>T (p.Gly1587Cys)
c.4480G>T (p.Gly1494Cys)
c.3523G>T (p.Gly1175Cys)
c.3514G>T (p.Gly1172Cys)
5g.37020589G>ACA359486986NIPBLc.5141G>A (p.Gly1714Asp)
c.1-43989G>A (n.1-43989G>A)
c.4397G>A (p.Gly1466Asp)
c.4943G>A (p.Gly1648Asp)
c.4760G>A (p.Gly1587Asp)
c.4481G>A (p.Gly1494Asp)
c.3524G>A (p.Gly1175Asp)
c.3515G>A (p.Gly1172Asp)
5g.37020589G>CCA359486989NIPBLc.5141G>C (p.Gly1714Ala)
c.1-43989G>C (n.1-43989G>C)
c.4397G>C (p.Gly1466Ala)
c.4943G>C (p.Gly1648Ala)
c.4760G>C (p.Gly1587Ala)
c.4481G>C (p.Gly1494Ala)
c.3524G>C (p.Gly1175Ala)
c.3515G>C (p.Gly1172Ala)
5g.37020589G>TCA359486990NIPBLc.5141G>T (p.Gly1714Val)
c.1-43989G>T (n.1-43989G>T)
c.4397G>T (p.Gly1466Val)
c.4943G>T (p.Gly1648Val)
c.4760G>T (p.Gly1587Val)
c.4481G>T (p.Gly1494Val)
c.3524G>T (p.Gly1175Val)
c.3515G>T (p.Gly1172Val)
5g.37020590C>ACA443905022NIPBLc.5142C>A (p.Gly1714=)
c.1-43988C>A (n.1-43988C>A)
c.4398C>A (p.Gly1466=)
c.4944C>A (p.Gly1648=)
c.4761C>A (p.Gly1587=)
c.4482C>A (p.Gly1494=)
c.3525C>A (p.Gly1175=)
c.3516C>A (p.Gly1172=)
5g.37020590C>GCA443905023NIPBLc.5142C>G (p.Gly1714=)
c.1-43988C>G (n.1-43988C>G)
c.4398C>G (p.Gly1466=)
c.4944C>G (p.Gly1648=)
c.4761C>G (p.Gly1587=)
c.4482C>G (p.Gly1494=)
c.3525C>G (p.Gly1175=)
c.3516C>G (p.Gly1172=)
5g.37020590C>TCA443905024NIPBLc.5142C>T (p.Gly1714=)
c.1-43988C>T (n.1-43988C>T)
c.4398C>T (p.Gly1466=)
c.4944C>T (p.Gly1648=)
c.4761C>T (p.Gly1587=)
c.4482C>T (p.Gly1494=)
c.3525C>T (p.Gly1175=)
c.3516C>T (p.Gly1172=)
5g.37020591C>ACA359486994NIPBLc.5143C>A (p.Gln1715Lys)
c.1-43987C>A (n.1-43987C>A)
c.4399C>A (p.Gln1467Lys)
c.4945C>A (p.Gln1649Lys)
c.4762C>A (p.Gln1588Lys)
c.4483C>A (p.Gln1495Lys)
c.3526C>A (p.Gln1176Lys)
c.3517C>A (p.Gln1173Lys)
5g.37020591C>GCA359486999NIPBLc.5143C>G (p.Gln1715Glu)
c.1-43987C>G (n.1-43987C>G)
c.4399C>G (p.Gln1467Glu)
c.4945C>G (p.Gln1649Glu)
c.4762C>G (p.Gln1588Glu)
c.4483C>G (p.Gln1495Glu)
c.3526C>G (p.Gln1176Glu)
c.3517C>G (p.Gln1173Glu)
 gnomAD v4
5g.37020591C>TCA359487001NIPBLc.5143C>T (p.Gln1715Ter)
c.1-43987C>T (n.1-43987C>T)
c.4399C>T (p.Gln1467Ter)
c.4945C>T (p.Gln1649Ter)
c.4762C>T (p.Gln1588Ter)
c.4483C>T (p.Gln1495Ter)
c.3526C>T (p.Gln1176Ter)
c.3517C>T (p.Gln1173Ter)
5g.37020592A>CCA359487003NIPBLc.5144A>C (p.Gln1715Pro)
c.1-43986A>C (n.1-43986A>C)
c.4400A>C (p.Gln1467Pro)
c.4946A>C (p.Gln1649Pro)
c.4763A>C (p.Gln1588Pro)
c.4484A>C (p.Gln1495Pro)
c.3527A>C (p.Gln1176Pro)
c.3518A>C (p.Gln1173Pro)
5g.37020592A>GCA359487006NIPBLc.5144A>G (p.Gln1715Arg)
c.1-43986A>G (n.1-43986A>G)
c.4400A>G (p.Gln1467Arg)
c.4946A>G (p.Gln1649Arg)
c.4763A>G (p.Gln1588Arg)
c.4484A>G (p.Gln1495Arg)
c.3527A>G (p.Gln1176Arg)
c.3518A>G (p.Gln1173Arg)
5g.37020592A>TCA359487011NIPBLc.5144A>T (p.Gln1715Leu)
c.1-43986A>T (n.1-43986A>T)
c.4400A>T (p.Gln1467Leu)
c.4946A>T (p.Gln1649Leu)
c.4763A>T (p.Gln1588Leu)
c.4484A>T (p.Gln1495Leu)
c.3527A>T (p.Gln1176Leu)
c.3518A>T (p.Gln1173Leu)
5g.37020593A>CCA359487014NIPBLc.5145A>C (p.Gln1715His)
c.1-43985A>C (n.1-43985A>C)
c.4401A>C (p.Gln1467His)
c.4947A>C (p.Gln1649His)
c.4764A>C (p.Gln1588His)
c.4485A>C (p.Gln1495His)
c.3528A>C (p.Gln1176His)
c.3519A>C (p.Gln1173His)
5g.37020593A>GCA443905046NIPBLc.5145A>G (p.Gln1715=)
c.1-43985A>G (n.1-43985A>G)
c.4401A>G (p.Gln1467=)
c.4947A>G (p.Gln1649=)
c.4764A>G (p.Gln1588=)
c.4485A>G (p.Gln1495=)
c.3528A>G (p.Gln1176=)
c.3519A>G (p.Gln1173=)
5g.37020593A>TCA359487017NIPBLc.5145A>T (p.Gln1715His)
c.1-43985A>T (n.1-43985A>T)
c.4401A>T (p.Gln1467His)
c.4947A>T (p.Gln1649His)
c.4764A>T (p.Gln1588His)
c.4485A>T (p.Gln1495His)
c.3528A>T (p.Gln1176His)
c.3519A>T (p.Gln1173His)
5g.37020594A=CA1539619263NIPBLc.5146A= (p.Ile1716=)
c.1-43984A= (n.1-43984A=)
c.4402A= (p.Ile1468=)
c.4948A= (p.Ile1650=)
c.4765A= (p.Ile1589=)
c.4486A= (p.Ile1496=)
c.3529A= (p.Ile1177=)
c.3520A= (p.Ile1174=)
5g.37020594A>CCA359487022NIPBLc.5146A>C (p.Ile1716Leu)
c.1-43984A>C (n.1-43984A>C)
c.4402A>C (p.Ile1468Leu)
c.4948A>C (p.Ile1650Leu)
c.4765A>C (p.Ile1589Leu)
c.4486A>C (p.Ile1496Leu)
c.3529A>C (p.Ile1177Leu)
c.3520A>C (p.Ile1174Leu)
5g.37020594A>GCA359487023NIPBLc.5146A>G (p.Ile1716Val)
c.1-43984A>G (n.1-43984A>G)
c.4402A>G (p.Ile1468Val)
c.4948A>G (p.Ile1650Val)
c.4765A>G (p.Ile1589Val)
c.4486A>G (p.Ile1496Val)
c.3529A>G (p.Ile1177Val)
c.3520A>G (p.Ile1174Val)
 dbSNP gnomAD v2 gnomAD v4
5g.37020594A>TCA359487019NIPBLc.5146A>T (p.Ile1716Phe)
c.1-43984A>T (n.1-43984A>T)
c.4402A>T (p.Ile1468Phe)
c.4948A>T (p.Ile1650Phe)
c.4765A>T (p.Ile1589Phe)
c.4486A>T (p.Ile1496Phe)
c.3529A>T (p.Ile1177Phe)
c.3520A>T (p.Ile1174Phe)
5g.37020595T>ACA359487025NIPBLc.5147T>A (p.Ile1716Asn)
c.1-43983T>A (n.1-43983T>A)
c.4403T>A (p.Ile1468Asn)
c.4949T>A (p.Ile1650Asn)
c.4766T>A (p.Ile1589Asn)
c.4487T>A (p.Ile1496Asn)
c.3530T>A (p.Ile1177Asn)
c.3521T>A (p.Ile1174Asn)
5g.37020595T>CCA359487027NIPBLc.5147T>C (p.Ile1716Thr)
c.1-43983T>C (n.1-43983T>C)
c.4403T>C (p.Ile1468Thr)
c.4949T>C (p.Ile1650Thr)
c.4766T>C (p.Ile1589Thr)
c.4487T>C (p.Ile1496Thr)
c.3530T>C (p.Ile1177Thr)
c.3521T>C (p.Ile1174Thr)
5g.37020595T>GCA359487028NIPBLc.5147T>G (p.Ile1716Ser)
c.1-43983T>G (n.1-43983T>G)
c.4403T>G (p.Ile1468Ser)
c.4949T>G (p.Ile1650Ser)
c.4766T>G (p.Ile1589Ser)
c.4487T>G (p.Ile1496Ser)
c.3530T>G (p.Ile1177Ser)
c.3521T>G (p.Ile1174Ser)
5g.37020596T>ACA443905049NIPBLc.5148T>A (p.Ile1716=)
c.1-43982T>A (n.1-43982T>A)
c.4404T>A (p.Ile1468=)
c.4950T>A (p.Ile1650=)
c.4767T>A (p.Ile1589=)
c.4488T>A (p.Ile1496=)
c.3531T>A (p.Ile1177=)
c.3522T>A (p.Ile1174=)
5g.37020596T>CCA443905048NIPBLc.5148T>C (p.Ile1716=)
c.1-43982T>C (n.1-43982T>C)
c.4404T>C (p.Ile1468=)
c.4950T>C (p.Ile1650=)
c.4767T>C (p.Ile1589=)
c.4488T>C (p.Ile1496=)
c.3531T>C (p.Ile1177=)
c.3522T>C (p.Ile1174=)
5g.37020596T>GCA359487030NIPBLc.5148T>G (p.Ile1716Met)
c.1-43982T>G (n.1-43982T>G)
c.4404T>G (p.Ile1468Met)
c.4950T>G (p.Ile1650Met)
c.4767T>G (p.Ile1589Met)
c.4488T>G (p.Ile1496Met)
c.3531T>G (p.Ile1177Met)
c.3522T>G (p.Ile1174Met)
5g.37020597_37020602delCA2673553327NIPBLc.5149_5154del (p.Met1717_His1718del)
c.1-43981_1-43976del (n.1-43981_1-43976del)
c.4405_4410del (p.Met1469_His1470del)
c.4951_4956del (p.Met1651_His1652del)
c.4768_4773del (p.Met1590_His1591del)
c.4489_4494del (p.Met1497_His1498del)
c.3532_3537del (p.Met1178_His1179del)
c.3523_3528del (p.Met1175_His1176del)
 gnomAD v4
5g.37020597A>CCA359487046NIPBLc.5149A>C (p.Met1717Leu)
c.1-43981A>C (n.1-43981A>C)
c.4405A>C (p.Met1469Leu)
c.4951A>C (p.Met1651Leu)
c.4768A>C (p.Met1590Leu)
c.4489A>C (p.Met1497Leu)
c.3532A>C (p.Met1178Leu)
c.3523A>C (p.Met1175Leu)
 gnomAD v4
5g.37020597A>GCA359487040NIPBLc.5149A>G (p.Met1717Val)
c.1-43981A>G (n.1-43981A>G)
c.4405A>G (p.Met1469Val)
c.4951A>G (p.Met1651Val)
c.4768A>G (p.Met1590Val)
c.4489A>G (p.Met1497Val)
c.3532A>G (p.Met1178Val)
c.3523A>G (p.Met1175Val)
5g.37020597A>TCA359487037NIPBLc.5149A>T (p.Met1717Leu)
c.1-43981A>T (n.1-43981A>T)
c.4405A>T (p.Met1469Leu)
c.4951A>T (p.Met1651Leu)
c.4768A>T (p.Met1590Leu)
c.4489A>T (p.Met1497Leu)
c.3532A>T (p.Met1178Leu)
c.3523A>T (p.Met1175Leu)
5g.37020598T>ACA359487050NIPBLc.5150T>A (p.Met1717Lys)
c.1-43980T>A (n.1-43980T>A)
c.4406T>A (p.Met1469Lys)
c.4952T>A (p.Met1651Lys)
c.4769T>A (p.Met1590Lys)
c.4490T>A (p.Met1497Lys)
c.3533T>A (p.Met1178Lys)
c.3524T>A (p.Met1175Lys)
5g.37020598T>CCA359487051NIPBLc.5150T>C (p.Met1717Thr)
c.1-43980T>C (n.1-43980T>C)
c.4406T>C (p.Met1469Thr)
c.4952T>C (p.Met1651Thr)
c.4769T>C (p.Met1590Thr)
c.4490T>C (p.Met1497Thr)
c.3533T>C (p.Met1178Thr)
c.3524T>C (p.Met1175Thr)
 dbSNP gnomAD v2 gnomAD v4
5g.37020598T>GCA359487053NIPBLc.5150T>G (p.Met1717Arg)
c.1-43980T>G (n.1-43980T>G)
c.4406T>G (p.Met1469Arg)
c.4952T>G (p.Met1651Arg)
c.4769T>G (p.Met1590Arg)
c.4490T>G (p.Met1497Arg)
c.3533T>G (p.Met1178Arg)
c.3524T>G (p.Met1175Arg)
5g.37020598T=CA1539619264NIPBLc.5150T= (p.Met1717=)
c.1-43980T= (n.1-43980T=)
c.4406T= (p.Met1469=)
c.4952T= (p.Met1651=)
c.4769T= (p.Met1590=)
c.4490T= (p.Met1497=)
c.3533T= (p.Met1178=)
c.3524T= (p.Met1175=)
5g.37020599G>ACA359487057NIPBLc.5151G>A (p.Met1717Ile)
c.1-43979G>A (n.1-43979G>A)
c.4407G>A (p.Met1469Ile)
c.4953G>A (p.Met1651Ile)
c.4770G>A (p.Met1590Ile)
c.4491G>A (p.Met1497Ile)
c.3534G>A (p.Met1178Ile)
c.3525G>A (p.Met1175Ile)
5g.37020599G>CCA359487060NIPBLc.5151G>C (p.Met1717Ile)
c.1-43979G>C (n.1-43979G>C)
c.4407G>C (p.Met1469Ile)
c.4953G>C (p.Met1651Ile)
c.4770G>C (p.Met1590Ile)
c.4491G>C (p.Met1497Ile)
c.3534G>C (p.Met1178Ile)
c.3525G>C (p.Met1175Ile)
5g.37020599G>TCA359487064NIPBLc.5151G>T (p.Met1717Ile)
c.1-43979G>T (n.1-43979G>T)
c.4407G>T (p.Met1469Ile)
c.4953G>T (p.Met1651Ile)
c.4770G>T (p.Met1590Ile)
c.4491G>T (p.Met1497Ile)
c.3534G>T (p.Met1178Ile)
c.3525G>T (p.Met1175Ile)
5g.37020600C>ACA359487073NIPBLc.5152C>A (p.His1718Asn)
c.1-43978C>A (n.1-43978C>A)
c.4408C>A (p.His1470Asn)
c.4954C>A (p.His1652Asn)
c.4771C>A (p.His1591Asn)
c.4492C>A (p.His1498Asn)
c.3535C>A (p.His1179Asn)
c.3526C>A (p.His1176Asn)
5g.37020600C>GCA359487072NIPBLc.5152C>G (p.His1718Asp)
c.1-43978C>G (n.1-43978C>G)
c.4408C>G (p.His1470Asp)
c.4954C>G (p.His1652Asp)
c.4771C>G (p.His1591Asp)
c.4492C>G (p.His1498Asp)
c.3535C>G (p.His1179Asp)
c.3526C>G (p.His1176Asp)
5g.37020600C>TCA359487069NIPBLc.5152C>T (p.His1718Tyr)
c.1-43978C>T (n.1-43978C>T)
c.4408C>T (p.His1470Tyr)
c.4954C>T (p.His1652Tyr)
c.4771C>T (p.His1591Tyr)
c.4492C>T (p.His1498Tyr)
c.3535C>T (p.His1179Tyr)
c.3526C>T (p.His1176Tyr)
 COSMIC COSMIC
5g.37020601A=CA1539619265NIPBLc.5153A= (p.His1718=)
c.1-43977A= (n.1-43977A=)
c.4409A= (p.His1470=)
c.4955A= (p.His1652=)
c.4772A= (p.His1591=)
c.4493A= (p.His1498=)
c.3536A= (p.His1179=)
c.3527A= (p.His1176=)
5g.37020601A>CCA359487077NIPBLc.5153A>C (p.His1718Pro)
c.1-43977A>C (n.1-43977A>C)
c.4409A>C (p.His1470Pro)
c.4955A>C (p.His1652Pro)
c.4772A>C (p.His1591Pro)
c.4493A>C (p.His1498Pro)
c.3536A>C (p.His1179Pro)
c.3527A>C (p.His1176Pro)
5g.37020601A>GCA3236704NIPBLc.5153A>G (p.His1718Arg)
c.1-43977A>G (n.1-43977A>G)
c.4409A>G (p.His1470Arg)
c.4955A>G (p.His1652Arg)
c.4772A>G (p.His1591Arg)
c.4493A>G (p.His1498Arg)
c.3536A>G (p.His1179Arg)
c.3527A>G (p.His1176Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020601A>TCA359487081NIPBLc.5153A>T (p.His1718Leu)
c.1-43977A>T (n.1-43977A>T)
c.4409A>T (p.His1470Leu)
c.4955A>T (p.His1652Leu)
c.4772A>T (p.His1591Leu)
c.4493A>T (p.His1498Leu)
c.3536A>T (p.His1179Leu)
c.3527A>T (p.His1176Leu)
 gnomAD v4
5g.37020602T>ACA359487087NIPBLc.5154T>A (p.His1718Gln)
c.1-43976T>A (n.1-43976T>A)
c.4410T>A (p.His1470Gln)
c.4956T>A (p.His1652Gln)
c.4773T>A (p.His1591Gln)
c.4494T>A (p.His1498Gln)
c.3537T>A (p.His1179Gln)
c.3528T>A (p.His1176Gln)
5g.37020602T>CCA443905055NIPBLc.5154T>C (p.His1718=)
c.1-43976T>C (n.1-43976T>C)
c.4410T>C (p.His1470=)
c.4956T>C (p.His1652=)
c.4773T>C (p.His1591=)
c.4494T>C (p.His1498=)
c.3537T>C (p.His1179=)
c.3528T>C (p.His1176=)
5g.37020602T>GCA359487090NIPBLc.5154T>G (p.His1718Gln)
c.1-43976T>G (n.1-43976T>G)
c.4410T>G (p.His1470Gln)
c.4956T>G (p.His1652Gln)
c.4773T>G (p.His1591Gln)
c.4494T>G (p.His1498Gln)
c.3537T>G (p.His1179Gln)
c.3528T>G (p.His1176Gln)
5g.37020603C>ACA443905056NIPBLc.5155C>A (p.Arg1719=)
c.1-43975C>A (n.1-43975C>A)
c.4411C>A (p.Arg1471=)
c.4957C>A (p.Arg1653=)
c.4774C>A (p.Arg1592=)
c.4495C>A (p.Arg1499=)
c.3538C>A (p.Arg1180=)
c.3529C>A (p.Arg1177=)
5g.37020603C>GCA359487093NIPBLc.5155C>G (p.Arg1719Gly)
c.1-43975C>G (n.1-43975C>G)
c.4411C>G (p.Arg1471Gly)
c.4957C>G (p.Arg1653Gly)
c.4774C>G (p.Arg1592Gly)
c.4495C>G (p.Arg1499Gly)
c.3538C>G (p.Arg1180Gly)
c.3529C>G (p.Arg1177Gly)
5g.37020603C>TCA359487097NIPBLc.5155C>T (p.Arg1719Ter)
c.1-43975C>T (n.1-43975C>T)
c.4411C>T (p.Arg1471Ter)
c.4957C>T (p.Arg1653Ter)
c.4774C>T (p.Arg1592Ter)
c.4495C>T (p.Arg1499Ter)
c.3538C>T (p.Arg1180Ter)
c.3529C>T (p.Arg1177Ter)
5g.37020604G>ACA359487099NIPBLc.5156G>A (p.Arg1719Gln)
c.1-43974G>A (n.1-43974G>A)
c.4412G>A (p.Arg1471Gln)
c.4958G>A (p.Arg1653Gln)
c.4775G>A (p.Arg1592Gln)
c.4496G>A (p.Arg1499Gln)
c.3539G>A (p.Arg1180Gln)
c.3530G>A (p.Arg1177Gln)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.37020604G>CCA359487111NIPBLc.5156G>C (p.Arg1719Pro)
c.1-43974G>C (n.1-43974G>C)
c.4412G>C (p.Arg1471Pro)
c.4958G>C (p.Arg1653Pro)
c.4775G>C (p.Arg1592Pro)
c.4496G>C (p.Arg1499Pro)
c.3539G>C (p.Arg1180Pro)
c.3530G>C (p.Arg1177Pro)
5g.37020604G=CA1539619266NIPBLc.5156G= (p.Arg1719=)
c.1-43974G= (n.1-43974G=)
c.4412G= (p.Arg1471=)
c.4958G= (p.Arg1653=)
c.4775G= (p.Arg1592=)
c.4496G= (p.Arg1499=)
c.3539G= (p.Arg1180=)
c.3530G= (p.Arg1177=)
5g.37020604G>TCA359487118NIPBLc.5156G>T (p.Arg1719Leu)
c.1-43974G>T (n.1-43974G>T)
c.4412G>T (p.Arg1471Leu)
c.4958G>T (p.Arg1653Leu)
c.4775G>T (p.Arg1592Leu)
c.4496G>T (p.Arg1499Leu)
c.3539G>T (p.Arg1180Leu)
c.3530G>T (p.Arg1177Leu)
5g.37020605A>CCA443905058NIPBLc.5157A>C (p.Arg1719=)
c.1-43973A>C (n.1-43973A>C)
c.4413A>C (p.Arg1471=)
c.4959A>C (p.Arg1653=)
c.4776A>C (p.Arg1592=)
c.4497A>C (p.Arg1499=)
c.3540A>C (p.Arg1180=)
c.3531A>C (p.Arg1177=)
5g.37020605A>GCA443905059NIPBLc.5157A>G (p.Arg1719=)
c.1-43973A>G (n.1-43973A>G)
c.4413A>G (p.Arg1471=)
c.4959A>G (p.Arg1653=)
c.4776A>G (p.Arg1592=)
c.4497A>G (p.Arg1499=)
c.3540A>G (p.Arg1180=)
c.3531A>G (p.Arg1177=)
5g.37020605A>TCA443905060NIPBLc.5157A>T (p.Arg1719=)
c.1-43973A>T (n.1-43973A>T)
c.4413A>T (p.Arg1471=)
c.4959A>T (p.Arg1653=)
c.4776A>T (p.Arg1592=)
c.4497A>T (p.Arg1499=)
c.3540A>T (p.Arg1180=)
c.3531A>T (p.Arg1177=)
5g.37020606G>ACA3236705NIPBLc.5158G>A (p.Ala1720Thr)
c.1-43972G>A (n.1-43972G>A)
c.4414G>A (p.Ala1472Thr)
c.4960G>A (p.Ala1654Thr)
c.4777G>A (p.Ala1593Thr)
c.4498G>A (p.Ala1500Thr)
c.3541G>A (p.Ala1181Thr)
c.3532G>A (p.Ala1178Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37020606G>CCA359487123NIPBLc.5158G>C (p.Ala1720Pro)
c.1-43972G>C (n.1-43972G>C)
c.4414G>C (p.Ala1472Pro)
c.4960G>C (p.Ala1654Pro)
c.4777G>C (p.Ala1593Pro)
c.4498G>C (p.Ala1500Pro)
c.3541G>C (p.Ala1181Pro)
c.3532G>C (p.Ala1178Pro)
5g.37020606G=CA1539619267NIPBLc.5158G= (p.Ala1720=)
c.1-43972G= (n.1-43972G=)
c.4414G= (p.Ala1472=)
c.4960G= (p.Ala1654=)
c.4777G= (p.Ala1593=)
c.4498G= (p.Ala1500=)
c.3541G= (p.Ala1181=)
c.3532G= (p.Ala1178=)
5g.37020606G>TCA359487127NIPBLc.5158G>T (p.Ala1720Ser)
c.1-43972G>T (n.1-43972G>T)
c.4414G>T (p.Ala1472Ser)
c.4960G>T (p.Ala1654Ser)
c.4777G>T (p.Ala1593Ser)
c.4498G>T (p.Ala1500Ser)
c.3541G>T (p.Ala1181Ser)
c.3532G>T (p.Ala1178Ser)
 gnomAD v4
5g.37020607C>ACA359487150NIPBLc.5159C>A (p.Ala1720Asp)
c.1-43971C>A (n.1-43971C>A)
c.4415C>A (p.Ala1472Asp)
c.4961C>A (p.Ala1654Asp)
c.4778C>A (p.Ala1593Asp)
c.4499C>A (p.Ala1500Asp)
c.3542C>A (p.Ala1181Asp)
c.3533C>A (p.Ala1178Asp)
5g.37020607C>GCA359487146NIPBLc.5159C>G (p.Ala1720Gly)
c.1-43971C>G (n.1-43971C>G)
c.4415C>G (p.Ala1472Gly)
c.4961C>G (p.Ala1654Gly)
c.4778C>G (p.Ala1593Gly)
c.4499C>G (p.Ala1500Gly)
c.3542C>G (p.Ala1181Gly)
c.3533C>G (p.Ala1178Gly)
5g.37020607C>TCA359487143NIPBLc.5159C>T (p.Ala1720Val)
c.1-43971C>T (n.1-43971C>T)
c.4415C>T (p.Ala1472Val)
c.4961C>T (p.Ala1654Val)
c.4778C>T (p.Ala1593Val)
c.4499C>T (p.Ala1500Val)
c.3542C>T (p.Ala1181Val)
c.3533C>T (p.Ala1178Val)
5g.37020608T>ACA443905064NIPBLc.5160T>A (p.Ala1720=)
c.1-43970T>A (n.1-43970T>A)
c.4416T>A (p.Ala1472=)
c.4962T>A (p.Ala1654=)
c.4779T>A (p.Ala1593=)
c.4500T>A (p.Ala1500=)
c.3543T>A (p.Ala1181=)
c.3534T>A (p.Ala1178=)
5g.37020608T>CCA443905065NIPBLc.5160T>C (p.Ala1720=)
c.1-43970T>C (n.1-43970T>C)
c.4416T>C (p.Ala1472=)
c.4962T>C (p.Ala1654=)
c.4779T>C (p.Ala1593=)
c.4500T>C (p.Ala1500=)
c.3543T>C (p.Ala1181=)
c.3534T>C (p.Ala1178=)
5g.37020608T>GCA443905066NIPBLc.5160T>G (p.Ala1720=)
c.1-43970T>G (n.1-43970T>G)
c.4416T>G (p.Ala1472=)
c.4962T>G (p.Ala1654=)
c.4779T>G (p.Ala1593=)
c.4500T>G (p.Ala1500=)
c.3543T>G (p.Ala1181=)
c.3534T>G (p.Ala1178=)
5g.37020609G>ACA359487153NIPBLc.5161G>A (p.Glu1721Lys)
c.1-43969G>A (n.1-43969G>A)
c.4417G>A (p.Glu1473Lys)
c.4963G>A (p.Glu1655Lys)
c.4780G>A (p.Glu1594Lys)
c.4501G>A (p.Glu1501Lys)
c.3544G>A (p.Glu1182Lys)
c.3535G>A (p.Glu1179Lys)
5g.37020609G>CCA359487155NIPBLc.5161G>C (p.Glu1721Gln)
c.1-43969G>C (n.1-43969G>C)
c.4417G>C (p.Glu1473Gln)
c.4963G>C (p.Glu1655Gln)
c.4780G>C (p.Glu1594Gln)
c.4501G>C (p.Glu1501Gln)
c.3544G>C (p.Glu1182Gln)
c.3535G>C (p.Glu1179Gln)
5g.37020609G>TCA359487156NIPBLc.5161G>T (p.Glu1721Ter)
c.1-43969G>T (n.1-43969G>T)
c.4417G>T (p.Glu1473Ter)
c.4963G>T (p.Glu1655Ter)
c.4780G>T (p.Glu1594Ter)
c.4501G>T (p.Glu1501Ter)
c.3544G>T (p.Glu1182Ter)
c.3535G>T (p.Glu1179Ter)
5g.37020610A>CCA359487158NIPBLc.5162A>C (p.Glu1721Ala)
c.1-43968A>C (n.1-43968A>C)
c.4418A>C (p.Glu1473Ala)
c.4964A>C (p.Glu1655Ala)
c.4781A>C (p.Glu1594Ala)
c.4502A>C (p.Glu1501Ala)
c.3545A>C (p.Glu1182Ala)
c.3536A>C (p.Glu1179Ala)
5g.37020610A>GCA359487161NIPBLc.5162A>G (p.Glu1721Gly)
c.1-43968A>G (n.1-43968A>G)
c.4418A>G (p.Glu1473Gly)
c.4964A>G (p.Glu1655Gly)
c.4781A>G (p.Glu1594Gly)
c.4502A>G (p.Glu1501Gly)
c.3545A>G (p.Glu1182Gly)
c.3536A>G (p.Glu1179Gly)
5g.37020610A>TCA359487165NIPBLc.5162A>T (p.Glu1721Val)
c.1-43968A>T (n.1-43968A>T)
c.4418A>T (p.Glu1473Val)
c.4964A>T (p.Glu1655Val)
c.4781A>T (p.Glu1594Val)
c.4502A>T (p.Glu1501Val)
c.3545A>T (p.Glu1182Val)
c.3536A>T (p.Glu1179Val)
5g.37020611A>CCA359487170NIPBLc.5163A>C (p.Glu1721Asp)
c.1-43967A>C (n.1-43967A>C)
c.4419A>C (p.Glu1473Asp)
c.4965A>C (p.Glu1655Asp)
c.4782A>C (p.Glu1594Asp)
c.4503A>C (p.Glu1501Asp)
c.3546A>C (p.Glu1182Asp)
c.3537A>C (p.Glu1179Asp)
 gnomAD v4
5g.37020611A>GCA443905068NIPBLc.5163A>G (p.Glu1721=)
c.1-43967A>G (n.1-43967A>G)
c.4419A>G (p.Glu1473=)
c.4965A>G (p.Glu1655=)
c.4782A>G (p.Glu1594=)
c.4503A>G (p.Glu1501=)
c.3546A>G (p.Glu1182=)
c.3537A>G (p.Glu1179=)
5g.37020611A>TCA359487171NIPBLc.5163A>T (p.Glu1721Asp)
c.1-43967A>T (n.1-43967A>T)
c.4419A>T (p.Glu1473Asp)
c.4965A>T (p.Glu1655Asp)
c.4782A>T (p.Glu1594Asp)
c.4503A>T (p.Glu1501Asp)
c.3546A>T (p.Glu1182Asp)
c.3537A>T (p.Glu1179Asp)
5g.37020612A>CCA359487174NIPBLc.5164A>C (p.Asn1722His)
c.1-43966A>C (n.1-43966A>C)
c.4420A>C (p.Asn1474His)
c.4966A>C (p.Asn1656His)
c.4783A>C (p.Asn1595His)
c.4504A>C (p.Asn1502His)
c.3547A>C (p.Asn1183His)
c.3538A>C (p.Asn1180His)
 gnomAD v4
5g.37020612A>GCA359487176NIPBLc.5164A>G (p.Asn1722Asp)
c.1-43966A>G (n.1-43966A>G)
c.4420A>G (p.Asn1474Asp)
c.4966A>G (p.Asn1656Asp)
c.4783A>G (p.Asn1595Asp)
c.4504A>G (p.Asn1502Asp)
c.3547A>G (p.Asn1183Asp)
c.3538A>G (p.Asn1180Asp)
 COSMIC COSMIC
5g.37020612A>TCA359487179NIPBLc.5164A>T (p.Asn1722Tyr)
c.1-43966A>T (n.1-43966A>T)
c.4420A>T (p.Asn1474Tyr)
c.4966A>T (p.Asn1656Tyr)
c.4783A>T (p.Asn1595Tyr)
c.4504A>T (p.Asn1502Tyr)
c.3547A>T (p.Asn1183Tyr)
c.3538A>T (p.Asn1180Tyr)
5g.37020613A>CCA359487186NIPBLc.5165A>C (p.Asn1722Thr)
c.1-43965A>C (n.1-43965A>C)
c.4421A>C (p.Asn1474Thr)
c.4967A>C (p.Asn1656Thr)
c.4784A>C (p.Asn1595Thr)
c.4505A>C (p.Asn1502Thr)
c.3548A>C (p.Asn1183Thr)
c.3539A>C (p.Asn1180Thr)
5g.37020613A>GCA359487187NIPBLc.5165A>G (p.Asn1722Ser)
c.1-43965A>G (n.1-43965A>G)
c.4421A>G (p.Asn1474Ser)
c.4967A>G (p.Asn1656Ser)
c.4784A>G (p.Asn1595Ser)
c.4505A>G (p.Asn1502Ser)
c.3548A>G (p.Asn1183Ser)
c.3539A>G (p.Asn1180Ser)
5g.37020613A>TCA359487183NIPBLc.5165A>T (p.Asn1722Ile)
c.1-43965A>T (n.1-43965A>T)
c.4421A>T (p.Asn1474Ile)
c.4967A>T (p.Asn1656Ile)
c.4784A>T (p.Asn1595Ile)
c.4505A>T (p.Asn1502Ile)
c.3548A>T (p.Asn1183Ile)
c.3539A>T (p.Asn1180Ile)
5g.37020614C>ACA359487188NIPBLc.5166C>A (p.Asn1722Lys)
c.1-43964C>A (n.1-43964C>A)
c.4422C>A (p.Asn1474Lys)
c.4968C>A (p.Asn1656Lys)
c.4785C>A (p.Asn1595Lys)
c.4506C>A (p.Asn1502Lys)
c.3549C>A (p.Asn1183Lys)
c.3540C>A (p.Asn1180Lys)
5g.37020614C>GCA359487189NIPBLc.5166C>G (p.Asn1722Lys)
c.1-43964C>G (n.1-43964C>G)
c.4422C>G (p.Asn1474Lys)
c.4968C>G (p.Asn1656Lys)
c.4785C>G (p.Asn1595Lys)
c.4506C>G (p.Asn1502Lys)
c.3549C>G (p.Asn1183Lys)
c.3540C>G (p.Asn1180Lys)
5g.37020614C>TCA443905072NIPBLc.5166C>T (p.Asn1722=)
c.1-43964C>T (n.1-43964C>T)
c.4422C>T (p.Asn1474=)
c.4968C>T (p.Asn1656=)
c.4785C>T (p.Asn1595=)
c.4506C>T (p.Asn1502=)
c.3549C>T (p.Asn1183=)
c.3540C>T (p.Asn1180=)
5g.37020615C>ACA443905073NIPBLc.5167C>A (p.Arg1723=)
c.1-43963C>A (n.1-43963C>A)
c.4423C>A (p.Arg1475=)
c.4969C>A (p.Arg1657=)
c.4786C>A (p.Arg1596=)
c.4507C>A (p.Arg1503=)
c.3550C>A (p.Arg1184=)
c.3541C>A (p.Arg1181=)
5g.37020615C=CA1539619268NIPBLc.5167C= (p.Arg1723=)
c.1-43963C= (n.1-43963C=)
c.4423C= (p.Arg1475=)
c.4969C= (p.Arg1657=)
c.4786C= (p.Arg1596=)
c.4507C= (p.Arg1503=)
c.3550C= (p.Arg1184=)
c.3541C= (p.Arg1181=)
5g.37020615C>GCA359487190NIPBLc.5167C>G (p.Arg1723Gly)
c.1-43963C>G (n.1-43963C>G)
c.4423C>G (p.Arg1475Gly)
c.4969C>G (p.Arg1657Gly)
c.4786C>G (p.Arg1596Gly)
c.4507C>G (p.Arg1503Gly)
c.3550C>G (p.Arg1184Gly)
c.3541C>G (p.Arg1181Gly)
5g.37020615C>TCA252120NIPBLc.5167C>T (p.Arg1723Ter)
c.1-43963C>T (n.1-43963C>T)
c.4423C>T (p.Arg1475Ter)
c.4969C>T (p.Arg1657Ter)
c.4786C>T (p.Arg1596Ter)
c.4507C>T (p.Arg1503Ter)
c.3550C>T (p.Arg1184Ter)
c.3541C>T (p.Arg1181Ter)
 ClinVar dbSNP COSMIC COSMIC
5g.37020616G>ACA10620336NIPBLc.5168G>A (p.Arg1723Gln)
c.1-43962G>A (n.1-43962G>A)
c.4424G>A (p.Arg1475Gln)
c.4970G>A (p.Arg1657Gln)
c.4787G>A (p.Arg1596Gln)
c.4508G>A (p.Arg1503Gln)
c.3551G>A (p.Arg1184Gln)
c.3542G>A (p.Arg1181Gln)
 ClinVar dbSNP gnomAD v4
5g.37020616G>CCA359487193NIPBLc.5168G>C (p.Arg1723Pro)
c.1-43962G>C (n.1-43962G>C)
c.4424G>C (p.Arg1475Pro)
c.4970G>C (p.Arg1657Pro)
c.4787G>C (p.Arg1596Pro)
c.4508G>C (p.Arg1503Pro)
c.3551G>C (p.Arg1184Pro)
c.3542G>C (p.Arg1181Pro)
5g.37020616G=CA1539619270NIPBLc.5168G= (p.Arg1723=)
c.1-43962G= (n.1-43962G=)
c.4424G= (p.Arg1475=)
c.4970G= (p.Arg1657=)
c.4787G= (p.Arg1596=)
c.4508G= (p.Arg1503=)
c.3551G= (p.Arg1184=)
c.3542G= (p.Arg1181=)
5g.37020616G>TCA359487195NIPBLc.5168G>T (p.Arg1723Leu)
c.1-43962G>T (n.1-43962G>T)
c.4424G>T (p.Arg1475Leu)
c.4970G>T (p.Arg1657Leu)
c.4787G>T (p.Arg1596Leu)
c.4508G>T (p.Arg1503Leu)
c.3551G>T (p.Arg1184Leu)
c.3542G>T (p.Arg1181Leu)
5g.37020616_37020617delinsGACA1539619269NIPBLc.5168_5169delinsGA (p.Arg1723=)
c.1-43962_1-43961delinsGA (n.1-43962_1-43961delinsGA)
c.4424_4425delinsGA (p.Arg1475=)
c.4970_4971delinsGA (p.Arg1657=)
c.4787_4788delinsGA (p.Arg1596=)
c.4508_4509delinsGA (p.Arg1503=)
c.3551_3552delinsGA (p.Arg1184=)
c.3542_3543delinsGA (p.Arg1181=)
5g.37020617A>CCA443905078NIPBLc.5169A>C (p.Arg1723=)
c.1-43961A>C (n.1-43961A>C)
c.4425A>C (p.Arg1475=)
c.4971A>C (p.Arg1657=)
c.4788A>C (p.Arg1596=)
c.4509A>C (p.Arg1503=)
c.3552A>C (p.Arg1184=)
c.3543A>C (p.Arg1181=)
5g.37020617A>GCA443905077NIPBLc.5169A>G (p.Arg1723=)
c.1-43961A>G (n.1-43961A>G)
c.4425A>G (p.Arg1475=)
c.4971A>G (p.Arg1657=)
c.4788A>G (p.Arg1596=)
c.4509A>G (p.Arg1503=)
c.3552A>G (p.Arg1184=)
c.3543A>G (p.Arg1181=)
5g.37020617A>TCA443905075NIPBLc.5169A>T (p.Arg1723=)
c.1-43961A>T (n.1-43961A>T)
c.4425A>T (p.Arg1475=)
c.4971A>T (p.Arg1657=)
c.4788A>T (p.Arg1596=)
c.4509A>T (p.Arg1503=)
c.3552A>T (p.Arg1184=)
c.3543A>T (p.Arg1181=)
5g.37020622delCA272132NIPBLc.5174del (p.Lys1725SerfsTer17)
c.1-43956del (n.1-43956del)
c.4430del (p.Lys1477SerfsTer17)
c.4976del (p.Lys1659SerfsTer17)
c.4793del (p.Lys1598SerfsTer17)
c.4514del (p.Lys1505SerfsTer17)
c.3557del (p.Lys1186SerfsTer17)
c.3548del (p.Lys1183SerfsTer17)
 ClinVar dbSNP
5g.37020618A=CA1539583959NIPBLc.5170A= (p.Lys1724=)
c.1-43960A= (n.1-43960A=)
c.4426A= (p.Lys1476=)
c.4972A= (p.Lys1658=)
c.4789A= (p.Lys1597=)
c.4510A= (p.Lys1504=)
c.3553A= (p.Lys1185=)
c.3544A= (p.Lys1182=)
5g.37020618A>CCA359487202NIPBLc.5170A>C (p.Lys1724Gln)
c.1-43960A>C (n.1-43960A>C)
c.4426A>C (p.Lys1476Gln)
c.4972A>C (p.Lys1658Gln)
c.4789A>C (p.Lys1597Gln)
c.4510A>C (p.Lys1504Gln)
c.3553A>C (p.Lys1185Gln)
c.3544A>C (p.Lys1182Gln)
5g.37020618A>GCA359487205NIPBLc.5170A>G (p.Lys1724Glu)
c.1-43960A>G (n.1-43960A>G)
c.4426A>G (p.Lys1476Glu)
c.4972A>G (p.Lys1658Glu)
c.4789A>G (p.Lys1597Glu)
c.4510A>G (p.Lys1504Glu)
c.3553A>G (p.Lys1185Glu)
c.3544A>G (p.Lys1182Glu)
 dbSNP gnomAD v2 gnomAD v4
5g.37020618A>TCA359487210NIPBLc.5170A>T (p.Lys1724Ter)
c.1-43960A>T (n.1-43960A>T)
c.4426A>T (p.Lys1476Ter)
c.4972A>T (p.Lys1658Ter)
c.4789A>T (p.Lys1597Ter)
c.4510A>T (p.Lys1504Ter)
c.3553A>T (p.Lys1185Ter)
c.3544A>T (p.Lys1182Ter)
5g.37020619A>CCA359487216NIPBLc.5171A>C (p.Lys1724Thr)
c.1-43959A>C (n.1-43959A>C)
c.4427A>C (p.Lys1476Thr)
c.4973A>C (p.Lys1658Thr)
c.4790A>C (p.Lys1597Thr)
c.4511A>C (p.Lys1504Thr)
c.3554A>C (p.Lys1185Thr)
c.3545A>C (p.Lys1182Thr)
 gnomAD v4
5g.37020619A>GCA359487226NIPBLc.5171A>G (p.Lys1724Arg)
c.1-43959A>G (n.1-43959A>G)
c.4427A>G (p.Lys1476Arg)
c.4973A>G (p.Lys1658Arg)
c.4790A>G (p.Lys1597Arg)
c.4511A>G (p.Lys1504Arg)
c.3554A>G (p.Lys1185Arg)
c.3545A>G (p.Lys1182Arg)
5g.37020619A>TCA359487229NIPBLc.5171A>T (p.Lys1724Ile)
c.1-43959A>T (n.1-43959A>T)
c.4427A>T (p.Lys1476Ile)
c.4973A>T (p.Lys1658Ile)
c.4790A>T (p.Lys1597Ile)
c.4511A>T (p.Lys1504Ile)
c.3554A>T (p.Lys1185Ile)
c.3545A>T (p.Lys1182Ile)

Number of alleles fetched