| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045495A>C | CA443906791 | NIPBL | c.6396A>C (p.Ser2132=) c.1-19083A>C (n.1-19083A>C) c.5652A>C (p.Ser1884=) c.6198A>C (p.Ser2066=) c.6015A>C (p.Ser2005=) c.5736A>C (p.Ser1912=) c.4779A>C (p.Ser1593=) c.4770A>C (p.Ser1590=) | gnomAD v4 |
| 5 | g.37045495A>G | CA443906793 | NIPBL | c.6396A>G (p.Ser2132=) c.1-19083A>G (n.1-19083A>G) c.5652A>G (p.Ser1884=) c.6198A>G (p.Ser2066=) c.6015A>G (p.Ser2005=) c.5736A>G (p.Ser1912=) c.4779A>G (p.Ser1593=) c.4770A>G (p.Ser1590=) | |
| 5 | g.37045495A>T | CA443906795 | NIPBL | c.6396A>T (p.Ser2132=) c.1-19083A>T (n.1-19083A>T) c.5652A>T (p.Ser1884=) c.6198A>T (p.Ser2066=) c.6015A>T (p.Ser2005=) c.5736A>T (p.Ser1912=) c.4779A>T (p.Ser1593=) c.4770A>T (p.Ser1590=) | |
| 5 | g.37045496C>A | CA359504298 | NIPBL | c.6397C>A (p.Leu2133Ile) c.1-19082C>A (n.1-19082C>A) c.5653C>A (p.Leu1885Ile) c.6199C>A (p.Leu2067Ile) c.6016C>A (p.Leu2006Ile) c.5737C>A (p.Leu1913Ile) c.4780C>A (p.Leu1594Ile) c.4771C>A (p.Leu1591Ile) | |
| 5 | g.37045496C>G | CA359504307 | NIPBL | c.6397C>G (p.Leu2133Val) c.1-19082C>G (n.1-19082C>G) c.5653C>G (p.Leu1885Val) c.6199C>G (p.Leu2067Val) c.6016C>G (p.Leu2006Val) c.5737C>G (p.Leu1913Val) c.4780C>G (p.Leu1594Val) c.4771C>G (p.Leu1591Val) | |
| 5 | g.37045496C>T | CA359504309 | NIPBL | c.6397C>T (p.Leu2133Phe) c.1-19082C>T (n.1-19082C>T) c.5653C>T (p.Leu1885Phe) c.6199C>T (p.Leu2067Phe) c.6016C>T (p.Leu2006Phe) c.5737C>T (p.Leu1913Phe) c.4780C>T (p.Leu1594Phe) c.4771C>T (p.Leu1591Phe) | |
| 5 | g.37045497T>A | CA359504311 | NIPBL | c.6398T>A (p.Leu2133His) c.1-19081T>A (n.1-19081T>A) c.5654T>A (p.Leu1885His) c.6200T>A (p.Leu2067His) c.6017T>A (p.Leu2006His) c.5738T>A (p.Leu1913His) c.4781T>A (p.Leu1594His) c.4772T>A (p.Leu1591His) | |
| 5 | g.37045497T>C | CA359504314 | NIPBL | c.6398T>C (p.Leu2133Pro) c.1-19081T>C (n.1-19081T>C) c.5654T>C (p.Leu1885Pro) c.6200T>C (p.Leu2067Pro) c.6017T>C (p.Leu2006Pro) c.5738T>C (p.Leu1913Pro) c.4781T>C (p.Leu1594Pro) c.4772T>C (p.Leu1591Pro) | |
| 5 | g.37045497T>G | CA359504317 | NIPBL | c.6398T>G (p.Leu2133Arg) c.1-19081T>G (n.1-19081T>G) c.5654T>G (p.Leu1885Arg) c.6200T>G (p.Leu2067Arg) c.6017T>G (p.Leu2006Arg) c.5738T>G (p.Leu1913Arg) c.4781T>G (p.Leu1594Arg) c.4772T>G (p.Leu1591Arg) | |
| 5 | g.37045498T>A | CA443906808 | NIPBL | c.6399T>A (p.Leu2133=) c.1-19080T>A (n.1-19080T>A) c.5655T>A (p.Leu1885=) c.6201T>A (p.Leu2067=) c.6018T>A (p.Leu2006=) c.5739T>A (p.Leu1913=) c.4782T>A (p.Leu1594=) c.4773T>A (p.Leu1591=) | |
| 5 | g.37045498T>C | CA3236998 | NIPBL | c.6399T>C (p.Leu2133=) c.1-19080T>C (n.1-19080T>C) c.5655T>C (p.Leu1885=) c.6201T>C (p.Leu2067=) c.6018T>C (p.Leu2006=) c.5739T>C (p.Leu1913=) c.4782T>C (p.Leu1594=) c.4773T>C (p.Leu1591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045498T>G | CA443906812 | NIPBL | c.6399T>G (p.Leu2133=) c.1-19080T>G (n.1-19080T>G) c.5655T>G (p.Leu1885=) c.6201T>G (p.Leu2067=) c.6018T>G (p.Leu2006=) c.5739T>G (p.Leu1913=) c.4782T>G (p.Leu1594=) c.4773T>G (p.Leu1591=) | |
| 5 | g.37045498T= | CA1539618503 | NIPBL | c.6399T= (p.Leu2133=) c.1-19080T= (n.1-19080T=) c.5655T= (p.Leu1885=) c.6201T= (p.Leu2067=) c.6018T= (p.Leu2006=) c.5739T= (p.Leu1913=) c.4782T= (p.Leu1594=) c.4773T= (p.Leu1591=) | |
| 5 | g.37045499C>A | CA359504325 | NIPBL | c.6400C>A (p.Leu2134Ile) c.1-19079C>A (n.1-19079C>A) c.5656C>A (p.Leu1886Ile) c.6202C>A (p.Leu2068Ile) c.6019C>A (p.Leu2007Ile) c.5740C>A (p.Leu1914Ile) c.4783C>A (p.Leu1595Ile) c.4774C>A (p.Leu1592Ile) | |
| 5 | g.37045499C= | CA1539618512 | NIPBL | c.6400C= (p.Leu2134=) c.1-19079C= (n.1-19079C=) c.5656C= (p.Leu1886=) c.6202C= (p.Leu2068=) c.6019C= (p.Leu2007=) c.5740C= (p.Leu1914=) c.4783C= (p.Leu1595=) c.4774C= (p.Leu1592=) | |
| 5 | g.37045499C>G | CA359504323 | NIPBL | c.6400C>G (p.Leu2134Val) c.1-19079C>G (n.1-19079C>G) c.5656C>G (p.Leu1886Val) c.6202C>G (p.Leu2068Val) c.6019C>G (p.Leu2007Val) c.5740C>G (p.Leu1914Val) c.4783C>G (p.Leu1595Val) c.4774C>G (p.Leu1592Val) | gnomAD v4 |
| 5 | g.37045499C>T | CA172746 | NIPBL | c.6400C>T (p.Leu2134=) c.1-19079C>T (n.1-19079C>T) c.5656C>T (p.Leu1886=) c.6202C>T (p.Leu2068=) c.6019C>T (p.Leu2007=) c.5740C>T (p.Leu1914=) c.4783C>T (p.Leu1595=) c.4774C>T (p.Leu1592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045500_37045503dup | CA645372767 | NIPBL | c.6401_6404dup (p.Pro2138GlnfsTer6) c.1-19078_1-19075dup (n.1-19078_1-19075dup) c.5657_5660dup (p.Pro1890GlnfsTer6) c.6203_6206dup (p.Pro2072GlnfsTer6) c.6020_6023dup (p.Pro2011GlnfsTer6) c.5741_5744dup (p.Pro1918GlnfsTer6) c.4784_4787dup (p.Pro1599GlnfsTer6) c.4775_4778dup (p.Pro1596GlnfsTer6) | ClinVar dbSNP |
| 5 | g.37045500T>A | CA359504329 | NIPBL | c.6401T>A (p.Leu2134Gln) c.1-19078T>A (n.1-19078T>A) c.5657T>A (p.Leu1886Gln) c.6203T>A (p.Leu2068Gln) c.6020T>A (p.Leu2007Gln) c.5741T>A (p.Leu1914Gln) c.4784T>A (p.Leu1595Gln) c.4775T>A (p.Leu1592Gln) | |
| 5 | g.37045500T>C | CA359504337 | NIPBL | c.6401T>C (p.Leu2134Pro) c.1-19078T>C (n.1-19078T>C) c.5657T>C (p.Leu1886Pro) c.6203T>C (p.Leu2068Pro) c.6020T>C (p.Leu2007Pro) c.5741T>C (p.Leu1914Pro) c.4784T>C (p.Leu1595Pro) c.4775T>C (p.Leu1592Pro) | |
| 5 | g.37045500T>G | CA359504332 | NIPBL | c.6401T>G (p.Leu2134Arg) c.1-19078T>G (n.1-19078T>G) c.5657T>G (p.Leu1886Arg) c.6203T>G (p.Leu2068Arg) c.6020T>G (p.Leu2007Arg) c.5741T>G (p.Leu1914Arg) c.4784T>G (p.Leu1595Arg) c.4775T>G (p.Leu1592Arg) | |
| 5 | g.37045501A= | CA1539618520 | NIPBL | c.6402A= (p.Leu2134=) c.1-19077A= (n.1-19077A=) c.5658A= (p.Leu1886=) c.6204A= (p.Leu2068=) c.6021A= (p.Leu2007=) c.5742A= (p.Leu1914=) c.4785A= (p.Leu1595=) c.4776A= (p.Leu1592=) | |
| 5 | g.37045501A>C | CA443906824 | NIPBL | c.6402A>C (p.Leu2134=) c.1-19077A>C (n.1-19077A>C) c.5658A>C (p.Leu1886=) c.6204A>C (p.Leu2068=) c.6021A>C (p.Leu2007=) c.5742A>C (p.Leu1914=) c.4785A>C (p.Leu1595=) c.4776A>C (p.Leu1592=) | |
| 5 | g.37045501A>G | CA3236999 | NIPBL | c.6402A>G (p.Leu2134=) c.1-19077A>G (n.1-19077A>G) c.5658A>G (p.Leu1886=) c.6204A>G (p.Leu2068=) c.6021A>G (p.Leu2007=) c.5742A>G (p.Leu1914=) c.4785A>G (p.Leu1595=) c.4776A>G (p.Leu1592=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045501A>T | CA443906827 | NIPBL | c.6402A>T (p.Leu2134=) c.1-19077A>T (n.1-19077A>T) c.5658A>T (p.Leu1886=) c.6204A>T (p.Leu2068=) c.6021A>T (p.Leu2007=) c.5742A>T (p.Leu1914=) c.4785A>T (p.Leu1595=) c.4776A>T (p.Leu1592=) | |
| 5 | g.37045508_37045511del | CA2695204415 | NIPBL | c.6409_6412del (p.Lys2137GlnfsTer?) c.1-19070_1-19067del (n.1-19070_1-19067del) c.5665_5668del (p.Lys1889GlnfsTer?) c.6211_6214del (p.Lys2071GlnfsTer?) c.6028_6031del (p.Lys2010GlnfsTer?) c.5749_5752del (p.Lys1917GlnfsTer?) c.4792_4795del (p.Lys1598GlnfsTer?) c.4783_4786del (p.Lys1595GlnfsTer?) | |
| 5 | g.37045502A>C | CA359504341 | NIPBL | c.6403A>C (p.Thr2135Pro) c.1-19076A>C (n.1-19076A>C) c.5659A>C (p.Thr1887Pro) c.6205A>C (p.Thr2069Pro) c.6022A>C (p.Thr2008Pro) c.5743A>C (p.Thr1915Pro) c.4786A>C (p.Thr1596Pro) c.4777A>C (p.Thr1593Pro) | |
| 5 | g.37045502A>G | CA359504344 | NIPBL | c.6403A>G (p.Thr2135Ala) c.1-19076A>G (n.1-19076A>G) c.5659A>G (p.Thr1887Ala) c.6205A>G (p.Thr2069Ala) c.6022A>G (p.Thr2008Ala) c.5743A>G (p.Thr1915Ala) c.4786A>G (p.Thr1596Ala) c.4777A>G (p.Thr1593Ala) | gnomAD v4 |
| 5 | g.37045502A>T | CA359504346 | NIPBL | c.6403A>T (p.Thr2135Ser) c.1-19076A>T (n.1-19076A>T) c.5659A>T (p.Thr1887Ser) c.6205A>T (p.Thr2069Ser) c.6022A>T (p.Thr2008Ser) c.5743A>T (p.Thr1915Ser) c.4786A>T (p.Thr1596Ser) c.4777A>T (p.Thr1593Ser) | |
| 5 | g.37045503C>A | CA359504348 | NIPBL | c.6404C>A (p.Thr2135Lys) c.1-19075C>A (n.1-19075C>A) c.5660C>A (p.Thr1887Lys) c.6206C>A (p.Thr2069Lys) c.6023C>A (p.Thr2008Lys) c.5744C>A (p.Thr1915Lys) c.4787C>A (p.Thr1596Lys) c.4778C>A (p.Thr1593Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37045503C= | CA1539618525 | NIPBL | c.6404C= (p.Thr2135=) c.1-19075C= (n.1-19075C=) c.5660C= (p.Thr1887=) c.6206C= (p.Thr2069=) c.6023C= (p.Thr2008=) c.5744C= (p.Thr1915=) c.4787C= (p.Thr1596=) c.4778C= (p.Thr1593=) | |
| 5 | g.37045503C>G | CA359504349 | NIPBL | c.6404C>G (p.Thr2135Arg) c.1-19075C>G (n.1-19075C>G) c.5660C>G (p.Thr1887Arg) c.6206C>G (p.Thr2069Arg) c.6023C>G (p.Thr2008Arg) c.5744C>G (p.Thr1915Arg) c.4787C>G (p.Thr1596Arg) c.4778C>G (p.Thr1593Arg) | gnomAD v4 |
| 5 | g.37045503C>T | CA359504352 | NIPBL | c.6404C>T (p.Thr2135Ile) c.1-19075C>T (n.1-19075C>T) c.5660C>T (p.Thr1887Ile) c.6206C>T (p.Thr2069Ile) c.6023C>T (p.Thr2008Ile) c.5744C>T (p.Thr1915Ile) c.4787C>T (p.Thr1596Ile) c.4778C>T (p.Thr1593Ile) | |
| 5 | g.37045504A>C | CA443906840 | NIPBL | c.6405A>C (p.Thr2135=) c.1-19074A>C (n.1-19074A>C) c.5661A>C (p.Thr1887=) c.6207A>C (p.Thr2069=) c.6024A>C (p.Thr2008=) c.5745A>C (p.Thr1915=) c.4788A>C (p.Thr1596=) c.4779A>C (p.Thr1593=) | |
| 5 | g.37045504A>G | CA443906842 | NIPBL | c.6405A>G (p.Thr2135=) c.1-19074A>G (n.1-19074A>G) c.5661A>G (p.Thr1887=) c.6207A>G (p.Thr2069=) c.6024A>G (p.Thr2008=) c.5745A>G (p.Thr1915=) c.4788A>G (p.Thr1596=) c.4779A>G (p.Thr1593=) | |
| 5 | g.37045504A>T | CA443906838 | NIPBL | c.6405A>T (p.Thr2135=) c.1-19074A>T (n.1-19074A>T) c.5661A>T (p.Thr1887=) c.6207A>T (p.Thr2069=) c.6024A>T (p.Thr2008=) c.5745A>T (p.Thr1915=) c.4788A>T (p.Thr1596=) c.4779A>T (p.Thr1593=) | |
| 5 | g.37045506dup | CA2695204416 | NIPBL | c.6407dup (p.Asn2136LysfsTer7) c.1-19072dup (n.1-19072dup) c.5663dup (p.Asn1888LysfsTer7) c.6209dup (p.Asn2070LysfsTer7) c.6026dup (p.Asn2009LysfsTer7) c.5747dup (p.Asn1916LysfsTer7) c.4790dup (p.Asn1597LysfsTer7) c.4781dup (p.Asn1594LysfsTer7) | |
| 5 | g.37045505A>C | CA359504355 | NIPBL | c.6406A>C (p.Asn2136His) c.1-19073A>C (n.1-19073A>C) c.5662A>C (p.Asn1888His) c.6208A>C (p.Asn2070His) c.6025A>C (p.Asn2009His) c.5746A>C (p.Asn1916His) c.4789A>C (p.Asn1597His) c.4780A>C (p.Asn1594His) | |
| 5 | g.37045505A>G | CA359504357 | NIPBL | c.6406A>G (p.Asn2136Asp) c.1-19073A>G (n.1-19073A>G) c.5662A>G (p.Asn1888Asp) c.6208A>G (p.Asn2070Asp) c.6025A>G (p.Asn2009Asp) c.5746A>G (p.Asn1916Asp) c.4789A>G (p.Asn1597Asp) c.4780A>G (p.Asn1594Asp) | |
| 5 | g.37045505A>T | CA359504359 | NIPBL | c.6406A>T (p.Asn2136Tyr) c.1-19073A>T (n.1-19073A>T) c.5662A>T (p.Asn1888Tyr) c.6208A>T (p.Asn2070Tyr) c.6025A>T (p.Asn2009Tyr) c.5746A>T (p.Asn1916Tyr) c.4789A>T (p.Asn1597Tyr) c.4780A>T (p.Asn1594Tyr) | |
| 5 | g.37045506A>C | CA359504367 | NIPBL | c.6407A>C (p.Asn2136Thr) c.1-19072A>C (n.1-19072A>C) c.5663A>C (p.Asn1888Thr) c.6209A>C (p.Asn2070Thr) c.6026A>C (p.Asn2009Thr) c.5747A>C (p.Asn1916Thr) c.4790A>C (p.Asn1597Thr) c.4781A>C (p.Asn1594Thr) | |
| 5 | g.37045506A>G | CA359504362 | NIPBL | c.6407A>G (p.Asn2136Ser) c.1-19072A>G (n.1-19072A>G) c.5663A>G (p.Asn1888Ser) c.6209A>G (p.Asn2070Ser) c.6026A>G (p.Asn2009Ser) c.5747A>G (p.Asn1916Ser) c.4790A>G (p.Asn1597Ser) c.4781A>G (p.Asn1594Ser) | |
| 5 | g.37045506A>T | CA359504365 | NIPBL | c.6407A>T (p.Asn2136Ile) c.1-19072A>T (n.1-19072A>T) c.5663A>T (p.Asn1888Ile) c.6209A>T (p.Asn2070Ile) c.6026A>T (p.Asn2009Ile) c.5747A>T (p.Asn1916Ile) c.4790A>T (p.Asn1597Ile) c.4781A>T (p.Asn1594Ile) | |
| 5 | g.37045507C>A | CA359504369 | NIPBL | c.6408C>A (p.Asn2136Lys) c.1-19071C>A (n.1-19071C>A) c.5664C>A (p.Asn1888Lys) c.6210C>A (p.Asn2070Lys) c.6027C>A (p.Asn2009Lys) c.5748C>A (p.Asn1916Lys) c.4791C>A (p.Asn1597Lys) c.4782C>A (p.Asn1594Lys) | |
| 5 | g.37045507C>G | CA359504373 | NIPBL | c.6408C>G (p.Asn2136Lys) c.1-19071C>G (n.1-19071C>G) c.5664C>G (p.Asn1888Lys) c.6210C>G (p.Asn2070Lys) c.6027C>G (p.Asn2009Lys) c.5748C>G (p.Asn1916Lys) c.4791C>G (p.Asn1597Lys) c.4782C>G (p.Asn1594Lys) | |
| 5 | g.37045507C>T | CA443906853 | NIPBL | c.6408C>T (p.Asn2136=) c.1-19071C>T (n.1-19071C>T) c.5664C>T (p.Asn1888=) c.6210C>T (p.Asn2070=) c.6027C>T (p.Asn2009=) c.5748C>T (p.Asn1916=) c.4791C>T (p.Asn1597=) c.4782C>T (p.Asn1594=) | gnomAD v4 |
| 5 | g.37045508A>C | CA359504375 | NIPBL | c.6409A>C (p.Lys2137Gln) c.1-19070A>C (n.1-19070A>C) c.5665A>C (p.Lys1889Gln) c.6211A>C (p.Lys2071Gln) c.6028A>C (p.Lys2010Gln) c.5749A>C (p.Lys1917Gln) c.4792A>C (p.Lys1598Gln) c.4783A>C (p.Lys1595Gln) | |
| 5 | g.37045508A>G | CA359504379 | NIPBL | c.6409A>G (p.Lys2137Glu) c.1-19070A>G (n.1-19070A>G) c.5665A>G (p.Lys1889Glu) c.6211A>G (p.Lys2071Glu) c.6028A>G (p.Lys2010Glu) c.5749A>G (p.Lys1917Glu) c.4792A>G (p.Lys1598Glu) c.4783A>G (p.Lys1595Glu) | |
| 5 | g.37045508A>T | CA359504381 | NIPBL | c.6409A>T (p.Lys2137Ter) c.1-19070A>T (n.1-19070A>T) c.5665A>T (p.Lys1889Ter) c.6211A>T (p.Lys2071Ter) c.6028A>T (p.Lys2010Ter) c.5749A>T (p.Lys1917Ter) c.4792A>T (p.Lys1598Ter) c.4783A>T (p.Lys1595Ter) | |
| 5 | g.37045509A>C | CA359504383 | NIPBL | c.6410A>C (p.Lys2137Thr) c.1-19069A>C (n.1-19069A>C) c.5666A>C (p.Lys1889Thr) c.6212A>C (p.Lys2071Thr) c.6029A>C (p.Lys2010Thr) c.5750A>C (p.Lys1917Thr) c.4793A>C (p.Lys1598Thr) c.4784A>C (p.Lys1595Thr) |