Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37045443G>A | CA359503944 | NIPBL | c.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) | |
5 | g.37045443G>C | CA359503947 | NIPBL | c.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) | |
5 | g.37045443G>T | CA359503950 | NIPBL | c.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) | |
5 | g.37045444T>A | CA443906546 | NIPBL | c.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=) | |
5 | g.37045444T>C | CA443906549 | NIPBL | c.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 |
5 | g.37045444T>G | CA443906552 | NIPBL | c.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=) | |
5 | g.37045445G>A | CA359503952 | NIPBL | c.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 |
5 | g.37045445G>C | CA359503953 | NIPBL | c.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) | |
5 | g.37045445G>T | CA359503954 | NIPBL | c.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) | |
5 | g.37045446C>A | CA359503959 | NIPBL | c.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) | |
5 | g.37045446C>G | CA359503961 | NIPBL | c.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) | |
5 | g.37045446C>T | CA359503957 | NIPBL | c.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 |
5 | g.37045447C>A | CA443906568 | NIPBL | c.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 |
5 | g.37045447C= | CA1539618466 | NIPBL | c.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=) | |
5 | g.37045447C>G | CA443906572 | NIPBL | c.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 |
5 | g.37045447C>T | CA443906570 | NIPBL | c.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=) | |
5 | g.37045448A>C | CA359503963 | NIPBL | c.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 |
5 | g.37045448A>G | CA359503967 | NIPBL | c.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) | |
5 | g.37045448A>T | CA359503964 | NIPBL | c.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) | |
5 | g.37045449T>A | CA359503970 | NIPBL | c.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) | |
5 | g.37045449T>C | CA359503975 | NIPBL | c.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) | |
5 | g.37045449T>G | CA359503973 | NIPBL | c.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) | |
5 | g.37045450T>A | CA443906582 | NIPBL | c.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=) | |
5 | g.37045450T>C | CA443906584 | NIPBL | c.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=) | |
5 | g.37045450T>G | CA359503976 | NIPBL | c.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) | |
5 | g.37045451T>A | CA359503985 | NIPBL | c.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) | |
5 | g.37045451T>C | CA359503980 | NIPBL | c.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) | |
5 | g.37045451T>G | CA359503983 | NIPBL | c.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) | |
5 | g.37045452C>A | CA359503988 | NIPBL | c.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) | |
5 | g.37045452C>G | CA359503991 | NIPBL | c.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) | |
5 | g.37045452C>T | CA359503994 | NIPBL | c.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) | |
5 | g.37045453A>C | CA443906595 | NIPBL | c.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=) | |
5 | g.37045453A>G | CA443906597 | NIPBL | c.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=) | |
5 | g.37045453A>T | CA443906599 | NIPBL | c.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=) | |
5 | g.37045454A>C | CA359503996 | NIPBL | c.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) | |
5 | g.37045454A>G | CA359503998 | NIPBL | c.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) | |
5 | g.37045454A>T | CA359504003 | NIPBL | c.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) | |
5 | g.37045455A= | CA1539618468 | NIPBL | c.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=) | |
5 | g.37045455A>C | CA359504009 | NIPBL | c.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) | |
5 | g.37045455A>G | CA117046355 | NIPBL | c.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 |
5 | g.37045455A>T | CA359504018 | NIPBL | c.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) | |
5 | g.37045456A>C | CA359504025 | NIPBL | c.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) | |
5 | g.37045456A>G | CA443906612 | NIPBL | c.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 |
5 | g.37045456A>T | CA359504027 | NIPBL | c.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) | |
5 | g.37045457T>A | CA359504034 | NIPBL | c.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) | |
5 | g.37045457T>C | CA443906614 | NIPBL | c.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=) | |
5 | g.37045457T>G | CA359504035 | NIPBL | c.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) | |
5 | g.37045458T>A | CA359504039 | NIPBL | c.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 |
5 | g.37045458T>C | CA359504043 | NIPBL | c.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) | |
5 | g.37045458T>G | CA359504041 | NIPBL | c.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 |