Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045451T>ACA359503985NIPBLc.6352T>A (p.Ser2118Thr)
c.1-19127T>A (n.1-19127T>A)
c.5608T>A (p.Ser1870Thr)
c.6154T>A (p.Ser2052Thr)
c.5971T>A (p.Ser1991Thr)
c.5692T>A (p.Ser1898Thr)
c.4735T>A (p.Ser1579Thr)
c.4726T>A (p.Ser1576Thr)
5g.37045451T>CCA359503980NIPBLc.6352T>C (p.Ser2118Pro)
c.1-19127T>C (n.1-19127T>C)
c.5608T>C (p.Ser1870Pro)
c.6154T>C (p.Ser2052Pro)
c.5971T>C (p.Ser1991Pro)
c.5692T>C (p.Ser1898Pro)
c.4735T>C (p.Ser1579Pro)
c.4726T>C (p.Ser1576Pro)
5g.37045451T>GCA359503983NIPBLc.6352T>G (p.Ser2118Ala)
c.1-19127T>G (n.1-19127T>G)
c.5608T>G (p.Ser1870Ala)
c.6154T>G (p.Ser2052Ala)
c.5971T>G (p.Ser1991Ala)
c.5692T>G (p.Ser1898Ala)
c.4735T>G (p.Ser1579Ala)
c.4726T>G (p.Ser1576Ala)
5g.37045452C>ACA359503988NIPBLc.6353C>A (p.Ser2118Ter)
c.1-19126C>A (n.1-19126C>A)
c.5609C>A (p.Ser1870Ter)
c.6155C>A (p.Ser2052Ter)
c.5972C>A (p.Ser1991Ter)
c.5693C>A (p.Ser1898Ter)
c.4736C>A (p.Ser1579Ter)
c.4727C>A (p.Ser1576Ter)
5g.37045452C>GCA359503991NIPBLc.6353C>G (p.Ser2118Ter)
c.1-19126C>G (n.1-19126C>G)
c.5609C>G (p.Ser1870Ter)
c.6155C>G (p.Ser2052Ter)
c.5972C>G (p.Ser1991Ter)
c.5693C>G (p.Ser1898Ter)
c.4736C>G (p.Ser1579Ter)
c.4727C>G (p.Ser1576Ter)
5g.37045452C>TCA359503994NIPBLc.6353C>T (p.Ser2118Leu)
c.1-19126C>T (n.1-19126C>T)
c.5609C>T (p.Ser1870Leu)
c.6155C>T (p.Ser2052Leu)
c.5972C>T (p.Ser1991Leu)
c.5693C>T (p.Ser1898Leu)
c.4736C>T (p.Ser1579Leu)
c.4727C>T (p.Ser1576Leu)
5g.37045453A>CCA443906595NIPBLc.6354A>C (p.Ser2118=)
c.1-19125A>C (n.1-19125A>C)
c.5610A>C (p.Ser1870=)
c.6156A>C (p.Ser2052=)
c.5973A>C (p.Ser1991=)
c.5694A>C (p.Ser1898=)
c.4737A>C (p.Ser1579=)
c.4728A>C (p.Ser1576=)
5g.37045453A>GCA443906597NIPBLc.6354A>G (p.Ser2118=)
c.1-19125A>G (n.1-19125A>G)
c.5610A>G (p.Ser1870=)
c.6156A>G (p.Ser2052=)
c.5973A>G (p.Ser1991=)
c.5694A>G (p.Ser1898=)
c.4737A>G (p.Ser1579=)
c.4728A>G (p.Ser1576=)
5g.37045453A>TCA443906599NIPBLc.6354A>T (p.Ser2118=)
c.1-19125A>T (n.1-19125A>T)
c.5610A>T (p.Ser1870=)
c.6156A>T (p.Ser2052=)
c.5973A>T (p.Ser1991=)
c.5694A>T (p.Ser1898=)
c.4737A>T (p.Ser1579=)
c.4728A>T (p.Ser1576=)
5g.37045454A>CCA359503996NIPBLc.6355A>C (p.Lys2119Gln)
c.1-19124A>C (n.1-19124A>C)
c.5611A>C (p.Lys1871Gln)
c.6157A>C (p.Lys2053Gln)
c.5974A>C (p.Lys1992Gln)
c.5695A>C (p.Lys1899Gln)
c.4738A>C (p.Lys1580Gln)
c.4729A>C (p.Lys1577Gln)
5g.37045454A>GCA359503998NIPBLc.6355A>G (p.Lys2119Glu)
c.1-19124A>G (n.1-19124A>G)
c.5611A>G (p.Lys1871Glu)
c.6157A>G (p.Lys2053Glu)
c.5974A>G (p.Lys1992Glu)
c.5695A>G (p.Lys1899Glu)
c.4738A>G (p.Lys1580Glu)
c.4729A>G (p.Lys1577Glu)
5g.37045454A>TCA359504003NIPBLc.6355A>T (p.Lys2119Ter)
c.1-19124A>T (n.1-19124A>T)
c.5611A>T (p.Lys1871Ter)
c.6157A>T (p.Lys2053Ter)
c.5974A>T (p.Lys1992Ter)
c.5695A>T (p.Lys1899Ter)
c.4738A>T (p.Lys1580Ter)
c.4729A>T (p.Lys1577Ter)
5g.37045455A=CA1539618468NIPBLc.6356A= (p.Lys2119=)
c.1-19123A= (n.1-19123A=)
c.5612A= (p.Lys1871=)
c.6158A= (p.Lys2053=)
c.5975A= (p.Lys1992=)
c.5696A= (p.Lys1899=)
c.4739A= (p.Lys1580=)
c.4730A= (p.Lys1577=)
5g.37045455A>CCA359504009NIPBLc.6356A>C (p.Lys2119Thr)
c.1-19123A>C (n.1-19123A>C)
c.5612A>C (p.Lys1871Thr)
c.6158A>C (p.Lys2053Thr)
c.5975A>C (p.Lys1992Thr)
c.5696A>C (p.Lys1899Thr)
c.4739A>C (p.Lys1580Thr)
c.4730A>C (p.Lys1577Thr)
5g.37045455A>GCA117046355NIPBLc.6356A>G (p.Lys2119Arg)
c.1-19123A>G (n.1-19123A>G)
c.5612A>G (p.Lys1871Arg)
c.6158A>G (p.Lys2053Arg)
c.5975A>G (p.Lys1992Arg)
c.5696A>G (p.Lys1899Arg)
c.4739A>G (p.Lys1580Arg)
c.4730A>G (p.Lys1577Arg)
 dbSNP gnomAD v4 COSMIC COSMIC
5g.37045455A>TCA359504018NIPBLc.6356A>T (p.Lys2119Ile)
c.1-19123A>T (n.1-19123A>T)
c.5612A>T (p.Lys1871Ile)
c.6158A>T (p.Lys2053Ile)
c.5975A>T (p.Lys1992Ile)
c.5696A>T (p.Lys1899Ile)
c.4739A>T (p.Lys1580Ile)
c.4730A>T (p.Lys1577Ile)
5g.37045456A>CCA359504025NIPBLc.6357A>C (p.Lys2119Asn)
c.1-19122A>C (n.1-19122A>C)
c.5613A>C (p.Lys1871Asn)
c.6159A>C (p.Lys2053Asn)
c.5976A>C (p.Lys1992Asn)
c.5697A>C (p.Lys1899Asn)
c.4740A>C (p.Lys1580Asn)
c.4731A>C (p.Lys1577Asn)
5g.37045456A>GCA443906612NIPBLc.6357A>G (p.Lys2119=)
c.1-19122A>G (n.1-19122A>G)
c.5613A>G (p.Lys1871=)
c.6159A>G (p.Lys2053=)
c.5976A>G (p.Lys1992=)
c.5697A>G (p.Lys1899=)
c.4740A>G (p.Lys1580=)
c.4731A>G (p.Lys1577=)
 gnomAD v4
5g.37045456A>TCA359504027NIPBLc.6357A>T (p.Lys2119Asn)
c.1-19122A>T (n.1-19122A>T)
c.5613A>T (p.Lys1871Asn)
c.6159A>T (p.Lys2053Asn)
c.5976A>T (p.Lys1992Asn)
c.5697A>T (p.Lys1899Asn)
c.4740A>T (p.Lys1580Asn)
c.4731A>T (p.Lys1577Asn)
5g.37045457T>ACA359504034NIPBLc.6358T>A (p.Leu2120Ile)
c.1-19121T>A (n.1-19121T>A)
c.5614T>A (p.Leu1872Ile)
c.6160T>A (p.Leu2054Ile)
c.5977T>A (p.Leu1993Ile)
c.5698T>A (p.Leu1900Ile)
c.4741T>A (p.Leu1581Ile)
c.4732T>A (p.Leu1578Ile)
5g.37045457T>CCA443906614NIPBLc.6358T>C (p.Leu2120=)
c.1-19121T>C (n.1-19121T>C)
c.5614T>C (p.Leu1872=)
c.6160T>C (p.Leu2054=)
c.5977T>C (p.Leu1993=)
c.5698T>C (p.Leu1900=)
c.4741T>C (p.Leu1581=)
c.4732T>C (p.Leu1578=)
5g.37045457T>GCA359504035NIPBLc.6358T>G (p.Leu2120Val)
c.1-19121T>G (n.1-19121T>G)
c.5614T>G (p.Leu1872Val)
c.6160T>G (p.Leu2054Val)
c.5977T>G (p.Leu1993Val)
c.5698T>G (p.Leu1900Val)
c.4741T>G (p.Leu1581Val)
c.4732T>G (p.Leu1578Val)
5g.37045458T>ACA359504039NIPBLc.6359T>A (p.Leu2120Ter)
c.1-19120T>A (n.1-19120T>A)
c.5615T>A (p.Leu1872Ter)
c.6161T>A (p.Leu2054Ter)
c.5978T>A (p.Leu1993Ter)
c.5699T>A (p.Leu1900Ter)
c.4742T>A (p.Leu1581Ter)
c.4733T>A (p.Leu1578Ter)
 COSMIC COSMIC
5g.37045458T>CCA359504043NIPBLc.6359T>C (p.Leu2120Ser)
c.1-19120T>C (n.1-19120T>C)
c.5615T>C (p.Leu1872Ser)
c.6161T>C (p.Leu2054Ser)
c.5978T>C (p.Leu1993Ser)
c.5699T>C (p.Leu1900Ser)
c.4742T>C (p.Leu1581Ser)
c.4733T>C (p.Leu1578Ser)
5g.37045458T>GCA359504041NIPBLc.6359T>G (p.Leu2120Ter)
c.1-19120T>G (n.1-19120T>G)
c.5615T>G (p.Leu1872Ter)
c.6161T>G (p.Leu2054Ter)
c.5978T>G (p.Leu1993Ter)
c.5699T>G (p.Leu1900Ter)
c.4742T>G (p.Leu1581Ter)
c.4733T>G (p.Leu1578Ter)
 ClinVar dbSNP
5g.37045458_37045461delinsTAAACA1539618471NIPBLc.6359_6362delinsTAAA (p.Leu2120=)
c.1-19120_1-19117delinsTAAA (n.1-19120_1-19117delinsTAAA)
c.5615_5618delinsTAAA (p.Leu1872=)
c.6161_6164delinsTAAA (p.Leu2054=)
c.5978_5981delinsTAAA (p.Leu1993=)
c.5699_5702delinsTAAA (p.Leu1900=)
c.4742_4745delinsTAAA (p.Leu1581=)
c.4733_4736delinsTAAA (p.Leu1578=)
5g.37045459A>CCA359504046NIPBLc.6360A>C (p.Leu2120Phe)
c.1-19119A>C (n.1-19119A>C)
c.5616A>C (p.Leu1872Phe)
c.6162A>C (p.Leu2054Phe)
c.5979A>C (p.Leu1993Phe)
c.5700A>C (p.Leu1900Phe)
c.4743A>C (p.Leu1581Phe)
c.4734A>C (p.Leu1578Phe)
5g.37045459A>GCA443906619NIPBLc.6360A>G (p.Leu2120=)
c.1-19119A>G (n.1-19119A>G)
c.5616A>G (p.Leu1872=)
c.6162A>G (p.Leu2054=)
c.5979A>G (p.Leu1993=)
c.5700A>G (p.Leu1900=)
c.4743A>G (p.Leu1581=)
c.4734A>G (p.Leu1578=)
5g.37045459A>TCA359504047NIPBLc.6360A>T (p.Leu2120Phe)
c.1-19119A>T (n.1-19119A>T)
c.5616A>T (p.Leu1872Phe)
c.6162A>T (p.Leu2054Phe)
c.5979A>T (p.Leu1993Phe)
c.5700A>T (p.Leu1900Phe)
c.4743A>T (p.Leu1581Phe)
c.4734A>T (p.Leu1578Phe)
5g.37045461_37045463delCA272225NIPBLc.6362_6364del (p.Lys2121del)
c.1-19117_1-19115del (n.1-19117_1-19115del)
c.5618_5620del (p.Lys1873del)
c.6164_6166del (p.Lys2055del)
c.5981_5983del (p.Lys1994del)
c.5702_5704del (p.Lys1901del)
c.4745_4747del (p.Lys1582del)
c.4736_4738del (p.Lys1579del)
 ClinVar dbSNP
5g.37045460A>CCA359504051NIPBLc.6361A>C (p.Lys2121Gln)
c.1-19118A>C (n.1-19118A>C)
c.5617A>C (p.Lys1873Gln)
c.6163A>C (p.Lys2055Gln)
c.5980A>C (p.Lys1994Gln)
c.5701A>C (p.Lys1901Gln)
c.4744A>C (p.Lys1582Gln)
c.4735A>C (p.Lys1579Gln)
5g.37045460A>GCA359504052NIPBLc.6361A>G (p.Lys2121Glu)
c.1-19118A>G (n.1-19118A>G)
c.5617A>G (p.Lys1873Glu)
c.6163A>G (p.Lys2055Glu)
c.5980A>G (p.Lys1994Glu)
c.5701A>G (p.Lys1901Glu)
c.4744A>G (p.Lys1582Glu)
c.4735A>G (p.Lys1579Glu)
5g.37045460A>TCA359504055NIPBLc.6361A>T (p.Lys2121Ter)
c.1-19118A>T (n.1-19118A>T)
c.5617A>T (p.Lys1873Ter)
c.6163A>T (p.Lys2055Ter)
c.5980A>T (p.Lys1994Ter)
c.5701A>T (p.Lys1901Ter)
c.4744A>T (p.Lys1582Ter)
c.4735A>T (p.Lys1579Ter)
5g.37045461A=CA1539618475NIPBLc.6362A= (p.Lys2121=)
c.1-19117A= (n.1-19117A=)
c.5618A= (p.Lys1873=)
c.6164A= (p.Lys2055=)
c.5981A= (p.Lys1994=)
c.5702A= (p.Lys1901=)
c.4745A= (p.Lys1582=)
c.4736A= (p.Lys1579=)
5g.37045461A>CCA359504059NIPBLc.6362A>C (p.Lys2121Thr)
c.1-19117A>C (n.1-19117A>C)
c.5618A>C (p.Lys1873Thr)
c.6164A>C (p.Lys2055Thr)
c.5981A>C (p.Lys1994Thr)
c.5702A>C (p.Lys1901Thr)
c.4745A>C (p.Lys1582Thr)
c.4736A>C (p.Lys1579Thr)
5g.37045461A>GCA359504060NIPBLc.6362A>G (p.Lys2121Arg)
c.1-19117A>G (n.1-19117A>G)
c.5618A>G (p.Lys1873Arg)
c.6164A>G (p.Lys2055Arg)
c.5981A>G (p.Lys1994Arg)
c.5702A>G (p.Lys1901Arg)
c.4745A>G (p.Lys1582Arg)
c.4736A>G (p.Lys1579Arg)
 dbSNP
5g.37045461A>TCA359504063NIPBLc.6362A>T (p.Lys2121Ile)
c.1-19117A>T (n.1-19117A>T)
c.5618A>T (p.Lys1873Ile)
c.6164A>T (p.Lys2055Ile)
c.5981A>T (p.Lys1994Ile)
c.5702A>T (p.Lys1901Ile)
c.4745A>T (p.Lys1582Ile)
c.4736A>T (p.Lys1579Ile)
5g.37045462A>CCA359504064NIPBLc.6363A>C (p.Lys2121Asn)
c.1-19116A>C (n.1-19116A>C)
c.5619A>C (p.Lys1873Asn)
c.6165A>C (p.Lys2055Asn)
c.5982A>C (p.Lys1994Asn)
c.5703A>C (p.Lys1901Asn)
c.4746A>C (p.Lys1582Asn)
c.4737A>C (p.Lys1579Asn)
5g.37045462A>GCA443906634NIPBLc.6363A>G (p.Lys2121=)
c.1-19116A>G (n.1-19116A>G)
c.5619A>G (p.Lys1873=)
c.6165A>G (p.Lys2055=)
c.5982A>G (p.Lys1994=)
c.5703A>G (p.Lys1901=)
c.4746A>G (p.Lys1582=)
c.4737A>G (p.Lys1579=)
5g.37045462A>TCA359504066NIPBLc.6363A>T (p.Lys2121Asn)
c.1-19116A>T (n.1-19116A>T)
c.5619A>T (p.Lys1873Asn)
c.6165A>T (p.Lys2055Asn)
c.5982A>T (p.Lys1994Asn)
c.5703A>T (p.Lys1901Asn)
c.4746A>T (p.Lys1582Asn)
c.4737A>T (p.Lys1579Asn)
5g.37045463A=CA1539618476NIPBLc.6364A= (p.Ser2122=)
c.1-19115A= (n.1-19115A=)
c.5620A= (p.Ser1874=)
c.6166A= (p.Ser2056=)
c.5983A= (p.Ser1995=)
c.5704A= (p.Ser1902=)
c.4747A= (p.Ser1583=)
c.4738A= (p.Ser1580=)
5g.37045463A>CCA359504068NIPBLc.6364A>C (p.Ser2122Arg)
c.1-19115A>C (n.1-19115A>C)
c.5620A>C (p.Ser1874Arg)
c.6166A>C (p.Ser2056Arg)
c.5983A>C (p.Ser1995Arg)
c.5704A>C (p.Ser1902Arg)
c.4747A>C (p.Ser1583Arg)
c.4738A>C (p.Ser1580Arg)
5g.37045463A>GCA3236994NIPBLc.6364A>G (p.Ser2122Gly)
c.1-19115A>G (n.1-19115A>G)
c.5620A>G (p.Ser1874Gly)
c.6166A>G (p.Ser2056Gly)
c.5983A>G (p.Ser1995Gly)
c.5704A>G (p.Ser1902Gly)
c.4747A>G (p.Ser1583Gly)
c.4738A>G (p.Ser1580Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37045463A>TCA359504069NIPBLc.6364A>T (p.Ser2122Cys)
c.1-19115A>T (n.1-19115A>T)
c.5620A>T (p.Ser1874Cys)
c.6166A>T (p.Ser2056Cys)
c.5983A>T (p.Ser1995Cys)
c.5704A>T (p.Ser1902Cys)
c.4747A>T (p.Ser1583Cys)
c.4738A>T (p.Ser1580Cys)
5g.37045464G>ACA359504075NIPBLc.6365G>A (p.Ser2122Asn)
c.1-19114G>A (n.1-19114G>A)
c.5621G>A (p.Ser1874Asn)
c.6167G>A (p.Ser2056Asn)
c.5984G>A (p.Ser1995Asn)
c.5705G>A (p.Ser1902Asn)
c.4748G>A (p.Ser1583Asn)
c.4739G>A (p.Ser1580Asn)
 gnomAD v4 COSMIC COSMIC
5g.37045464G>CCA359504078NIPBLc.6365G>C (p.Ser2122Thr)
c.1-19114G>C (n.1-19114G>C)
c.5621G>C (p.Ser1874Thr)
c.6167G>C (p.Ser2056Thr)
c.5984G>C (p.Ser1995Thr)
c.5705G>C (p.Ser1902Thr)
c.4748G>C (p.Ser1583Thr)
c.4739G>C (p.Ser1580Thr)
5g.37045464G>TCA359504079NIPBLc.6365G>T (p.Ser2122Ile)
c.1-19114G>T (n.1-19114G>T)
c.5621G>T (p.Ser1874Ile)
c.6167G>T (p.Ser2056Ile)
c.5984G>T (p.Ser1995Ile)
c.5705G>T (p.Ser1902Ile)
c.4748G>T (p.Ser1583Ile)
c.4739G>T (p.Ser1580Ile)
5g.37045464_37045466delCA2560312538NIPBLc.6365_6367del (p.Ser2122_Gln2123delinsLys)
c.1-19114_1-19112del (n.1-19114_1-19112del)
c.5621_5623del (p.Ser1874_Gln1875delinsLys)
c.6167_6169del (p.Ser2056_Gln2057delinsLys)
c.5984_5986del (p.Ser1995_Gln1996delinsLys)
c.5705_5707del (p.Ser1902_Gln1903delinsLys)
c.4748_4750del (p.Ser1583_Gln1584delinsLys)
c.4739_4741del (p.Ser1580_Gln1581delinsLys)
5g.37045465T>ACA359504080NIPBLc.6366T>A (p.Ser2122Arg)
c.1-19113T>A (n.1-19113T>A)
c.5622T>A (p.Ser1874Arg)
c.6168T>A (p.Ser2056Arg)
c.5985T>A (p.Ser1995Arg)
c.5706T>A (p.Ser1902Arg)
c.4749T>A (p.Ser1583Arg)
c.4740T>A (p.Ser1580Arg)
5g.37045465T>CCA443906650NIPBLc.6366T>C (p.Ser2122=)
c.1-19113T>C (n.1-19113T>C)
c.5622T>C (p.Ser1874=)
c.6168T>C (p.Ser2056=)
c.5985T>C (p.Ser1995=)
c.5706T>C (p.Ser1902=)
c.4749T>C (p.Ser1583=)
c.4740T>C (p.Ser1580=)

Number of alleles fetched