Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)

Number of alleles fetched