Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37045434_37045439delCA2695204414NIPBLc.6344-9_6344-4del (n.6344-9_6344-4del)
c.1-19144_1-19139del (n.1-19144_1-19139del)
c.5600-9_5600-4del (n.5600-9_5600-4del)
c.6146-9_6146-4del (n.6146-9_6146-4del)
c.5963-9_5963-4del (n.5963-9_5963-4del)
c.5684-9_5684-4del (n.5684-9_5684-4del)
c.4727-9_4727-4del (n.4727-9_4727-4del)
c.4718-9_4718-4del (n.4718-9_4718-4del)
5g.37045433T>ACA1075097121NIPBLc.6344-10T>A (n.6344-10T>A)
c.1-19145T>A (n.1-19145T>A)
c.5600-10T>A (n.5600-10T>A)
c.6146-10T>A (n.6146-10T>A)
c.5963-10T>A (n.5963-10T>A)
c.5684-10T>A (n.5684-10T>A)
c.4727-10T>A (n.4727-10T>A)
c.4718-10T>A (n.4718-10T>A)
 dbSNP gnomAD v3 gnomAD v4
5g.37045433T>CCA3236993NIPBLc.6344-10T>C (n.6344-10T>C)
c.1-19145T>C (n.1-19145T>C)
c.5600-10T>C (n.5600-10T>C)
c.6146-10T>C (n.6146-10T>C)
c.5963-10T>C (n.5963-10T>C)
c.5684-10T>C (n.5684-10T>C)
c.4727-10T>C (n.4727-10T>C)
c.4718-10T>C (n.4718-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.37045433T=CA1539618464NIPBLc.6344-10T= (n.6344-10T=)
c.1-19145T= (n.1-19145T=)
c.5600-10T= (n.5600-10T=)
c.6146-10T= (n.6146-10T=)
c.5963-10T= (n.5963-10T=)
c.5684-10T= (n.5684-10T=)
c.4727-10T= (n.4727-10T=)
c.4718-10T= (n.4718-10T=)
5g.37045434C>ACA2673581624NIPBLc.6344-9C>A (n.6344-9C>A)
c.1-19144C>A (n.1-19144C>A)
c.5600-9C>A (n.5600-9C>A)
c.6146-9C>A (n.6146-9C>A)
c.5963-9C>A (n.5963-9C>A)
c.5684-9C>A (n.5684-9C>A)
c.4727-9C>A (n.4727-9C>A)
c.4718-9C>A (n.4718-9C>A)
 gnomAD v4
5g.37045434C>TCA2673581625NIPBLc.6344-9C>T (n.6344-9C>T)
c.1-19144C>T (n.1-19144C>T)
c.5600-9C>T (n.5600-9C>T)
c.6146-9C>T (n.6146-9C>T)
c.5963-9C>T (n.5963-9C>T)
c.5684-9C>T (n.5684-9C>T)
c.4727-9C>T (n.4727-9C>T)
c.4718-9C>T (n.4718-9C>T)
 gnomAD v4
5g.37045435T>GCA2578289495NIPBLc.6344-8T>G (n.6344-8T>G)
c.1-19143T>G (n.1-19143T>G)
c.5600-8T>G (n.5600-8T>G)
c.6146-8T>G (n.6146-8T>G)
c.5963-8T>G (n.5963-8T>G)
c.5684-8T>G (n.5684-8T>G)
c.4727-8T>G (n.4727-8T>G)
c.4718-8T>G (n.4718-8T>G)
 gnomAD v4
5g.37045438A>GCA2578289496NIPBLc.6344-5A>G (n.6344-5A>G)
c.1-19140A>G (n.1-19140A>G)
c.5600-5A>G (n.5600-5A>G)
c.6146-5A>G (n.6146-5A>G)
c.5963-5A>G (n.5963-5A>G)
c.5684-5A>G (n.5684-5A>G)
c.4727-5A>G (n.4727-5A>G)
c.4718-5A>G (n.4718-5A>G)
5g.37045440T>CCA2673581626NIPBLc.6344-3T>C (n.6344-3T>C)
c.1-19138T>C (n.1-19138T>C)
c.5600-3T>C (n.5600-3T>C)
c.6146-3T>C (n.6146-3T>C)
c.5963-3T>C (n.5963-3T>C)
c.5684-3T>C (n.5684-3T>C)
c.4727-3T>C (n.4727-3T>C)
c.4718-3T>C (n.4718-3T>C)
 gnomAD v4
5g.37045441A>CCA359503915NIPBLc.6344-2A>C (n.6344-2A>C)
c.1-19137A>C (n.1-19137A>C)
c.5600-2A>C (n.5600-2A>C)
c.6146-2A>C (n.6146-2A>C)
c.5963-2A>C (n.5963-2A>C)
c.5684-2A>C (n.5684-2A>C)
c.4727-2A>C (n.4727-2A>C)
c.4718-2A>C (n.4718-2A>C)
5g.37045441A>GCA359503916NIPBLc.6344-2A>G (n.6344-2A>G)
c.1-19137A>G (n.1-19137A>G)
c.5600-2A>G (n.5600-2A>G)
c.6146-2A>G (n.6146-2A>G)
c.5963-2A>G (n.5963-2A>G)
c.5684-2A>G (n.5684-2A>G)
c.4727-2A>G (n.4727-2A>G)
c.4718-2A>G (n.4718-2A>G)
5g.37045441A>TCA359503923NIPBLc.6344-2A>T (n.6344-2A>T)
c.1-19137A>T (n.1-19137A>T)
c.5600-2A>T (n.5600-2A>T)
c.6146-2A>T (n.6146-2A>T)
c.5963-2A>T (n.5963-2A>T)
c.5684-2A>T (n.5684-2A>T)
c.4727-2A>T (n.4727-2A>T)
c.4718-2A>T (n.4718-2A>T)
5g.37045442G>ACA359503925NIPBLc.6344-1G>A (n.6344-1G>A)
c.1-19136G>A (n.1-19136G>A)
c.5600-1G>A (n.5600-1G>A)
c.6146-1G>A (n.6146-1G>A)
c.5963-1G>A (n.5963-1G>A)
c.5684-1G>A (n.5684-1G>A)
c.4727-1G>A (n.4727-1G>A)
c.4718-1G>A (n.4718-1G>A)
 ClinVar
5g.37045442G>CCA359503931NIPBLc.6344-1G>C (n.6344-1G>C)
c.1-19136G>C (n.1-19136G>C)
c.5600-1G>C (n.5600-1G>C)
c.6146-1G>C (n.6146-1G>C)
c.5963-1G>C (n.5963-1G>C)
c.5684-1G>C (n.5684-1G>C)
c.4727-1G>C (n.4727-1G>C)
c.4718-1G>C (n.4718-1G>C)
5g.37045442G>TCA359503941NIPBLc.6344-1G>T (n.6344-1G>T)
c.1-19136G>T (n.1-19136G>T)
c.5600-1G>T (n.5600-1G>T)
c.6146-1G>T (n.6146-1G>T)
c.5963-1G>T (n.5963-1G>T)
c.5684-1G>T (n.5684-1G>T)
c.4727-1G>T (n.4727-1G>T)
c.4718-1G>T (n.4718-1G>T)
5g.37045443G>ACA359503944NIPBLc.6344G>A (p.Gly2115Asp)
c.1-19135G>A (n.1-19135G>A)
c.5600G>A (p.Gly1867Asp)
c.6146G>A (p.Gly2049Asp)
c.5963G>A (p.Gly1988Asp)
c.5684G>A (p.Gly1895Asp)
c.4727G>A (p.Gly1576Asp)
c.4718G>A (p.Gly1573Asp)
5g.37045443G>CCA359503947NIPBLc.6344G>C (p.Gly2115Ala)
c.1-19135G>C (n.1-19135G>C)
c.5600G>C (p.Gly1867Ala)
c.6146G>C (p.Gly2049Ala)
c.5963G>C (p.Gly1988Ala)
c.5684G>C (p.Gly1895Ala)
c.4727G>C (p.Gly1576Ala)
c.4718G>C (p.Gly1573Ala)
5g.37045443G>TCA359503950NIPBLc.6344G>T (p.Gly2115Val)
c.1-19135G>T (n.1-19135G>T)
c.5600G>T (p.Gly1867Val)
c.6146G>T (p.Gly2049Val)
c.5963G>T (p.Gly1988Val)
c.5684G>T (p.Gly1895Val)
c.4727G>T (p.Gly1576Val)
c.4718G>T (p.Gly1573Val)
5g.37045444T>ACA443906546NIPBLc.6345T>A (p.Gly2115=)
c.1-19134T>A (n.1-19134T>A)
c.5601T>A (p.Gly1867=)
c.6147T>A (p.Gly2049=)
c.5964T>A (p.Gly1988=)
c.5685T>A (p.Gly1895=)
c.4728T>A (p.Gly1576=)
c.4719T>A (p.Gly1573=)
5g.37045444T>CCA443906549NIPBLc.6345T>C (p.Gly2115=)
c.1-19134T>C (n.1-19134T>C)
c.5601T>C (p.Gly1867=)
c.6147T>C (p.Gly2049=)
c.5964T>C (p.Gly1988=)
c.5685T>C (p.Gly1895=)
c.4728T>C (p.Gly1576=)
c.4719T>C (p.Gly1573=)
 gnomAD v4
5g.37045444T>GCA443906552NIPBLc.6345T>G (p.Gly2115=)
c.1-19134T>G (n.1-19134T>G)
c.5601T>G (p.Gly1867=)
c.6147T>G (p.Gly2049=)
c.5964T>G (p.Gly1988=)
c.5685T>G (p.Gly1895=)
c.4728T>G (p.Gly1576=)
c.4719T>G (p.Gly1573=)
5g.37045445G>ACA359503952NIPBLc.6346G>A (p.Ala2116Thr)
c.1-19133G>A (n.1-19133G>A)
c.5602G>A (p.Ala1868Thr)
c.6148G>A (p.Ala2050Thr)
c.5965G>A (p.Ala1989Thr)
c.5686G>A (p.Ala1896Thr)
c.4729G>A (p.Ala1577Thr)
c.4720G>A (p.Ala1574Thr)
 gnomAD v3 gnomAD v4
5g.37045445G>CCA359503953NIPBLc.6346G>C (p.Ala2116Pro)
c.1-19133G>C (n.1-19133G>C)
c.5602G>C (p.Ala1868Pro)
c.6148G>C (p.Ala2050Pro)
c.5965G>C (p.Ala1989Pro)
c.5686G>C (p.Ala1896Pro)
c.4729G>C (p.Ala1577Pro)
c.4720G>C (p.Ala1574Pro)
5g.37045445G>TCA359503954NIPBLc.6346G>T (p.Ala2116Ser)
c.1-19133G>T (n.1-19133G>T)
c.5602G>T (p.Ala1868Ser)
c.6148G>T (p.Ala2050Ser)
c.5965G>T (p.Ala1989Ser)
c.5686G>T (p.Ala1896Ser)
c.4729G>T (p.Ala1577Ser)
c.4720G>T (p.Ala1574Ser)
5g.37045446C>ACA359503959NIPBLc.6347C>A (p.Ala2116Asp)
c.1-19132C>A (n.1-19132C>A)
c.5603C>A (p.Ala1868Asp)
c.6149C>A (p.Ala2050Asp)
c.5966C>A (p.Ala1989Asp)
c.5687C>A (p.Ala1896Asp)
c.4730C>A (p.Ala1577Asp)
c.4721C>A (p.Ala1574Asp)
5g.37045446C>GCA359503961NIPBLc.6347C>G (p.Ala2116Gly)
c.1-19132C>G (n.1-19132C>G)
c.5603C>G (p.Ala1868Gly)
c.6149C>G (p.Ala2050Gly)
c.5966C>G (p.Ala1989Gly)
c.5687C>G (p.Ala1896Gly)
c.4730C>G (p.Ala1577Gly)
c.4721C>G (p.Ala1574Gly)
5g.37045446C>TCA359503957NIPBLc.6347C>T (p.Ala2116Val)
c.1-19132C>T (n.1-19132C>T)
c.5603C>T (p.Ala1868Val)
c.6149C>T (p.Ala2050Val)
c.5966C>T (p.Ala1989Val)
c.5687C>T (p.Ala1896Val)
c.4730C>T (p.Ala1577Val)
c.4721C>T (p.Ala1574Val)
 gnomAD v4
5g.37045447C>ACA443906568NIPBLc.6348C>A (p.Ala2116=)
c.1-19131C>A (n.1-19131C>A)
c.5604C>A (p.Ala1868=)
c.6150C>A (p.Ala2050=)
c.5967C>A (p.Ala1989=)
c.5688C>A (p.Ala1896=)
c.4731C>A (p.Ala1577=)
c.4722C>A (p.Ala1574=)
 gnomAD v4
5g.37045447C=CA1539618466NIPBLc.6348C= (p.Ala2116=)
c.1-19131C= (n.1-19131C=)
c.5604C= (p.Ala1868=)
c.6150C= (p.Ala2050=)
c.5967C= (p.Ala1989=)
c.5688C= (p.Ala1896=)
c.4731C= (p.Ala1577=)
c.4722C= (p.Ala1574=)
5g.37045447C>GCA443906572NIPBLc.6348C>G (p.Ala2116=)
c.1-19131C>G (n.1-19131C>G)
c.5604C>G (p.Ala1868=)
c.6150C>G (p.Ala2050=)
c.5967C>G (p.Ala1989=)
c.5688C>G (p.Ala1896=)
c.4731C>G (p.Ala1577=)
c.4722C>G (p.Ala1574=)
 dbSNP gnomAD v3 gnomAD v4
5g.37045447C>TCA443906570NIPBLc.6348C>T (p.Ala2116=)
c.1-19131C>T (n.1-19131C>T)
c.5604C>T (p.Ala1868=)
c.6150C>T (p.Ala2050=)
c.5967C>T (p.Ala1989=)
c.5688C>T (p.Ala1896=)
c.4731C>T (p.Ala1577=)
c.4722C>T (p.Ala1574=)
5g.37045448A>CCA359503963NIPBLc.6349A>C (p.Ile2117Leu)
c.1-19130A>C (n.1-19130A>C)
c.5605A>C (p.Ile1869Leu)
c.6151A>C (p.Ile2051Leu)
c.5968A>C (p.Ile1990Leu)
c.5689A>C (p.Ile1897Leu)
c.4732A>C (p.Ile1578Leu)
c.4723A>C (p.Ile1575Leu)
 gnomAD v4
5g.37045448A>GCA359503967NIPBLc.6349A>G (p.Ile2117Val)
c.1-19130A>G (n.1-19130A>G)
c.5605A>G (p.Ile1869Val)
c.6151A>G (p.Ile2051Val)
c.5968A>G (p.Ile1990Val)
c.5689A>G (p.Ile1897Val)
c.4732A>G (p.Ile1578Val)
c.4723A>G (p.Ile1575Val)
5g.37045448A>TCA359503964NIPBLc.6349A>T (p.Ile2117Phe)
c.1-19130A>T (n.1-19130A>T)
c.5605A>T (p.Ile1869Phe)
c.6151A>T (p.Ile2051Phe)
c.5968A>T (p.Ile1990Phe)
c.5689A>T (p.Ile1897Phe)
c.4732A>T (p.Ile1578Phe)
c.4723A>T (p.Ile1575Phe)
5g.37045449T>ACA359503970NIPBLc.6350T>A (p.Ile2117Asn)
c.1-19129T>A (n.1-19129T>A)
c.5606T>A (p.Ile1869Asn)
c.6152T>A (p.Ile2051Asn)
c.5969T>A (p.Ile1990Asn)
c.5690T>A (p.Ile1897Asn)
c.4733T>A (p.Ile1578Asn)
c.4724T>A (p.Ile1575Asn)
5g.37045449T>CCA359503975NIPBLc.6350T>C (p.Ile2117Thr)
c.1-19129T>C (n.1-19129T>C)
c.5606T>C (p.Ile1869Thr)
c.6152T>C (p.Ile2051Thr)
c.5969T>C (p.Ile1990Thr)
c.5690T>C (p.Ile1897Thr)
c.4733T>C (p.Ile1578Thr)
c.4724T>C (p.Ile1575Thr)
5g.37045449T>GCA359503973NIPBLc.6350T>G (p.Ile2117Ser)
c.1-19129T>G (n.1-19129T>G)
c.5606T>G (p.Ile1869Ser)
c.6152T>G (p.Ile2051Ser)
c.5969T>G (p.Ile1990Ser)
c.5690T>G (p.Ile1897Ser)
c.4733T>G (p.Ile1578Ser)
c.4724T>G (p.Ile1575Ser)
5g.37045450T>ACA443906582NIPBLc.6351T>A (p.Ile2117=)
c.1-19128T>A (n.1-19128T>A)
c.5607T>A (p.Ile1869=)
c.6153T>A (p.Ile2051=)
c.5970T>A (p.Ile1990=)
c.5691T>A (p.Ile1897=)
c.4734T>A (p.Ile1578=)
c.4725T>A (p.Ile1575=)
5g.37045450T>CCA443906584NIPBLc.6351T>C (p.Ile2117=)
c.1-19128T>C (n.1-19128T>C)
c.5607T>C (p.Ile1869=)
c.6153T>C (p.Ile2051=)
c.5970T>C (p.Ile1990=)
c.5691T>C (p.Ile1897=)
c.4734T>C (p.Ile1578=)
c.4725T>C (p.Ile1575=)
5g.37045450T>GCA359503976NIPBLc.6351T>G (p.Ile2117Met)
c.1-19128T>G (n.1-19128T>G)
c.5607T>G (p.Ile1869Met)
c.6153T>G (p.Ile2051Met)
c.5970T>G (p.Ile1990Met)
c.5691T>G (p.Ile1897Met)
c.4734T>G (p.Ile1578Met)
c.4725T>G (p.Ile1575Met)
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)

Number of alleles fetched