UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045493T>A | CA359504283 | NIPBL | c.6394T>A (p.Ser2132Thr) c.1-19085T>A (n.1-19085T>A) c.5650T>A (p.Ser1884Thr) c.6196T>A (p.Ser2066Thr) c.6013T>A (p.Ser2005Thr) c.5734T>A (p.Ser1912Thr) c.4777T>A (p.Ser1593Thr) c.4768T>A (p.Ser1590Thr) | |
| 5 | g.37045493T>C | CA359504286 | NIPBL | c.6394T>C (p.Ser2132Pro) c.1-19085T>C (n.1-19085T>C) c.5650T>C (p.Ser1884Pro) c.6196T>C (p.Ser2066Pro) c.6013T>C (p.Ser2005Pro) c.5734T>C (p.Ser1912Pro) c.4777T>C (p.Ser1593Pro) c.4768T>C (p.Ser1590Pro) | |
| 5 | g.37045493T>G | CA359504287 | NIPBL | c.6394T>G (p.Ser2132Ala) c.1-19085T>G (n.1-19085T>G) c.5650T>G (p.Ser1884Ala) c.6196T>G (p.Ser2066Ala) c.6013T>G (p.Ser2005Ala) c.5734T>G (p.Ser1912Ala) c.4777T>G (p.Ser1593Ala) c.4768T>G (p.Ser1590Ala) | |
| 5 | g.37045494C>A | CA359504290 | NIPBL | c.6395C>A (p.Ser2132Ter) c.1-19084C>A (n.1-19084C>A) c.5651C>A (p.Ser1884Ter) c.6197C>A (p.Ser2066Ter) c.6014C>A (p.Ser2005Ter) c.5735C>A (p.Ser1912Ter) c.4778C>A (p.Ser1593Ter) c.4769C>A (p.Ser1590Ter) | |
| 5 | g.37045494C>G | CA359504292 | NIPBL | c.6395C>G (p.Ser2132Ter) c.1-19084C>G (n.1-19084C>G) c.5651C>G (p.Ser1884Ter) c.6197C>G (p.Ser2066Ter) c.6014C>G (p.Ser2005Ter) c.5735C>G (p.Ser1912Ter) c.4778C>G (p.Ser1593Ter) c.4769C>G (p.Ser1590Ter) | |
| 5 | g.37045494C>T | CA359504294 | NIPBL | c.6395C>T (p.Ser2132Leu) c.1-19084C>T (n.1-19084C>T) c.5651C>T (p.Ser1884Leu) c.6197C>T (p.Ser2066Leu) c.6014C>T (p.Ser2005Leu) c.5735C>T (p.Ser1912Leu) c.4778C>T (p.Ser1593Leu) c.4769C>T (p.Ser1590Leu) | |
| 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) | |
| 5 | g.37045509A>G | CA359504386 | NIPBL | c.6410A>G (p.Lys2137Arg) c.1-19069A>G (n.1-19069A>G) c.5666A>G (p.Lys1889Arg) c.6212A>G (p.Lys2071Arg) c.6029A>G (p.Lys2010Arg) c.5750A>G (p.Lys1917Arg) c.4793A>G (p.Lys1598Arg) c.4784A>G (p.Lys1595Arg) | |
| 5 | g.37045509A>T | CA359504390 | NIPBL | c.6410A>T (p.Lys2137Ile) c.1-19069A>T (n.1-19069A>T) c.5666A>T (p.Lys1889Ile) c.6212A>T (p.Lys2071Ile) c.6029A>T (p.Lys2010Ile) c.5750A>T (p.Lys1917Ile) c.4793A>T (p.Lys1598Ile) c.4784A>T (p.Lys1595Ile) | |
| 5 | g.37045510A>C | CA359504392 | NIPBL | c.6411A>C (p.Lys2137Asn) c.1-19068A>C (n.1-19068A>C) c.5667A>C (p.Lys1889Asn) c.6213A>C (p.Lys2071Asn) c.6030A>C (p.Lys2010Asn) c.5751A>C (p.Lys1917Asn) c.4794A>C (p.Lys1598Asn) c.4785A>C (p.Lys1595Asn) | |
| 5 | g.37045510A>G | CA443906869 | NIPBL | c.6411A>G (p.Lys2137=) c.1-19068A>G (n.1-19068A>G) c.5667A>G (p.Lys1889=) c.6213A>G (p.Lys2071=) c.6030A>G (p.Lys2010=) c.5751A>G (p.Lys1917=) c.4794A>G (p.Lys1598=) c.4785A>G (p.Lys1595=) | |
| 5 | g.37045510A>T | CA359504394 | NIPBL | c.6411A>T (p.Lys2137Asn) c.1-19068A>T (n.1-19068A>T) c.5667A>T (p.Lys1889Asn) c.6213A>T (p.Lys2071Asn) c.6030A>T (p.Lys2010Asn) c.5751A>T (p.Lys1917Asn) c.4794A>T (p.Lys1598Asn) c.4785A>T (p.Lys1595Asn) | |
| 5 | g.37045511C>A | CA359504399 | NIPBL | c.6412C>A (p.Pro2138Thr) c.1-19067C>A (n.1-19067C>A) c.5668C>A (p.Pro1890Thr) c.6214C>A (p.Pro2072Thr) c.6031C>A (p.Pro2011Thr) c.5752C>A (p.Pro1918Thr) c.4795C>A (p.Pro1599Thr) c.4786C>A (p.Pro1596Thr) | |
| 5 | g.37045511C>G | CA359504400 | NIPBL | c.6412C>G (p.Pro2138Ala) c.1-19067C>G (n.1-19067C>G) c.5668C>G (p.Pro1890Ala) c.6214C>G (p.Pro2072Ala) c.6031C>G (p.Pro2011Ala) c.5752C>G (p.Pro1918Ala) c.4795C>G (p.Pro1599Ala) c.4786C>G (p.Pro1596Ala) | |
| 5 | g.37045511C>T | CA359504397 | NIPBL | c.6412C>T (p.Pro2138Ser) c.1-19067C>T (n.1-19067C>T) c.5668C>T (p.Pro1890Ser) c.6214C>T (p.Pro2072Ser) c.6031C>T (p.Pro2011Ser) c.5752C>T (p.Pro1918Ser) c.4795C>T (p.Pro1599Ser) c.4786C>T (p.Pro1596Ser) | |
| 5 | g.37045512C>A | CA359504403 | NIPBL | c.6413C>A (p.Pro2138Gln) c.1-19066C>A (n.1-19066C>A) c.5669C>A (p.Pro1890Gln) c.6215C>A (p.Pro2072Gln) c.6032C>A (p.Pro2011Gln) c.5753C>A (p.Pro1918Gln) c.4796C>A (p.Pro1599Gln) c.4787C>A (p.Pro1596Gln) | |
| 5 | g.37045512C>G | CA359504413 | NIPBL | c.6413C>G (p.Pro2138Arg) c.1-19066C>G (n.1-19066C>G) c.5669C>G (p.Pro1890Arg) c.6215C>G (p.Pro2072Arg) c.6032C>G (p.Pro2011Arg) c.5753C>G (p.Pro1918Arg) c.4796C>G (p.Pro1599Arg) c.4787C>G (p.Pro1596Arg) | |
| 5 | g.37045512C>T | CA359504418 | NIPBL | c.6413C>T (p.Pro2138Leu) c.1-19066C>T (n.1-19066C>T) c.5669C>T (p.Pro1890Leu) c.6215C>T (p.Pro2072Leu) c.6032C>T (p.Pro2011Leu) c.5753C>T (p.Pro1918Leu) c.4796C>T (p.Pro1599Leu) c.4787C>T (p.Pro1596Leu) | |
| 5 | g.37045513A>C | CA443906883 | NIPBL | c.6414A>C (p.Pro2138=) c.1-19065A>C (n.1-19065A>C) c.5670A>C (p.Pro1890=) c.6216A>C (p.Pro2072=) c.6033A>C (p.Pro2011=) c.5754A>C (p.Pro1918=) c.4797A>C (p.Pro1599=) c.4788A>C (p.Pro1596=) | |
| 5 | g.37045513A>G | CA443906884 | NIPBL | c.6414A>G (p.Pro2138=) c.1-19065A>G (n.1-19065A>G) c.5670A>G (p.Pro1890=) c.6216A>G (p.Pro2072=) c.6033A>G (p.Pro2011=) c.5754A>G (p.Pro1918=) c.4797A>G (p.Pro1599=) c.4788A>G (p.Pro1596=) | |
| 5 | g.37045513A>T | CA443906887 | NIPBL | c.6414A>T (p.Pro2138=) c.1-19065A>T (n.1-19065A>T) c.5670A>T (p.Pro1890=) c.6216A>T (p.Pro2072=) c.6033A>T (p.Pro2011=) c.5754A>T (p.Pro1918=) c.4797A>T (p.Pro1599=) c.4788A>T (p.Pro1596=) | |
| 5 | g.37045514G>A | CA359504419 | NIPBL | c.6415G>A (p.Ala2139Thr) c.1-19064G>A (n.1-19064G>A) c.5671G>A (p.Ala1891Thr) c.6217G>A (p.Ala2073Thr) c.6034G>A (p.Ala2012Thr) c.5755G>A (p.Ala1919Thr) c.4798G>A (p.Ala1600Thr) c.4789G>A (p.Ala1597Thr) | |
| 5 | g.37045514G>C | CA359504421 | NIPBL | c.6415G>C (p.Ala2139Pro) c.1-19064G>C (n.1-19064G>C) c.5671G>C (p.Ala1891Pro) c.6217G>C (p.Ala2073Pro) c.6034G>C (p.Ala2012Pro) c.5755G>C (p.Ala1919Pro) c.4798G>C (p.Ala1600Pro) c.4789G>C (p.Ala1597Pro) | |
| 5 | g.37045514G>T | CA359504424 | NIPBL | c.6415G>T (p.Ala2139Ser) c.1-19064G>T (n.1-19064G>T) c.5671G>T (p.Ala1891Ser) c.6217G>T (p.Ala2073Ser) c.6034G>T (p.Ala2012Ser) c.5755G>T (p.Ala1919Ser) c.4798G>T (p.Ala1600Ser) c.4789G>T (p.Ala1597Ser) | |
| 5 | g.37045515C>A | CA359504427 | NIPBL | c.6416C>A (p.Ala2139Glu) c.1-19063C>A (n.1-19063C>A) c.5672C>A (p.Ala1891Glu) c.6218C>A (p.Ala2073Glu) c.6035C>A (p.Ala2012Glu) c.5756C>A (p.Ala1919Glu) c.4799C>A (p.Ala1600Glu) c.4790C>A (p.Ala1597Glu) | |
| 5 | g.37045515C>G | CA359504430 | NIPBL | c.6416C>G (p.Ala2139Gly) c.1-19063C>G (n.1-19063C>G) c.5672C>G (p.Ala1891Gly) c.6218C>G (p.Ala2073Gly) c.6035C>G (p.Ala2012Gly) c.5756C>G (p.Ala1919Gly) c.4799C>G (p.Ala1600Gly) c.4790C>G (p.Ala1597Gly) | |
| 5 | g.37045515C>T | CA359504443 | NIPBL | c.6416C>T (p.Ala2139Val) c.1-19063C>T (n.1-19063C>T) c.5672C>T (p.Ala1891Val) c.6218C>T (p.Ala2073Val) c.6035C>T (p.Ala2012Val) c.5756C>T (p.Ala1919Val) c.4799C>T (p.Ala1600Val) c.4790C>T (p.Ala1597Val) | |
| 5 | g.37045516A= | CA1539618528 | NIPBL | c.6417A= (p.Ala2139=) c.1-19062A= (n.1-19062A=) c.5673A= (p.Ala1891=) c.6219A= (p.Ala2073=) c.6036A= (p.Ala2012=) c.5757A= (p.Ala1919=) c.4800A= (p.Ala1600=) c.4791A= (p.Ala1597=) | |
| 5 | g.37045516A>C | CA443906900 | NIPBL | c.6417A>C (p.Ala2139=) c.1-19062A>C (n.1-19062A>C) c.5673A>C (p.Ala1891=) c.6219A>C (p.Ala2073=) c.6036A>C (p.Ala2012=) c.5757A>C (p.Ala1919=) c.4800A>C (p.Ala1600=) c.4791A>C (p.Ala1597=) | |
| 5 | g.37045516A>G | CA443906902 | NIPBL | c.6417A>G (p.Ala2139=) c.1-19062A>G (n.1-19062A>G) c.5673A>G (p.Ala1891=) c.6219A>G (p.Ala2073=) c.6036A>G (p.Ala2012=) c.5757A>G (p.Ala1919=) c.4800A>G (p.Ala1600=) c.4791A>G (p.Ala1597=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37045516A>T | CA443906904 | NIPBL | c.6417A>T (p.Ala2139=) c.1-19062A>T (n.1-19062A>T) c.5673A>T (p.Ala1891=) c.6219A>T (p.Ala2073=) c.6036A>T (p.Ala2012=) c.5757A>T (p.Ala1919=) c.4800A>T (p.Ala1600=) c.4791A>T (p.Ala1597=) | |
| 5 | g.37045517C>A | CA359504448 | NIPBL | c.6418C>A (p.Leu2140Ile) c.1-19061C>A (n.1-19061C>A) c.5674C>A (p.Leu1892Ile) c.6220C>A (p.Leu2074Ile) c.6037C>A (p.Leu2013Ile) c.5758C>A (p.Leu1920Ile) c.4801C>A (p.Leu1601Ile) c.4792C>A (p.Leu1598Ile) | |
| 5 | g.37045517C>G | CA359504449 | NIPBL | c.6418C>G (p.Leu2140Val) c.1-19061C>G (n.1-19061C>G) c.5674C>G (p.Leu1892Val) c.6220C>G (p.Leu2074Val) c.6037C>G (p.Leu2013Val) c.5758C>G (p.Leu1920Val) c.4801C>G (p.Leu1601Val) c.4792C>G (p.Leu1598Val) | |
| 5 | g.37045517C>T | CA359504452 | NIPBL | c.6418C>T (p.Leu2140Phe) c.1-19061C>T (n.1-19061C>T) c.5674C>T (p.Leu1892Phe) c.6220C>T (p.Leu2074Phe) c.6037C>T (p.Leu2013Phe) c.5758C>T (p.Leu1920Phe) c.4801C>T (p.Leu1601Phe) c.4792C>T (p.Leu1598Phe) | |
| 5 | g.37045518T>A | CA359504461 | NIPBL | c.6419T>A (p.Leu2140His) c.1-19060T>A (n.1-19060T>A) c.5675T>A (p.Leu1892His) c.6221T>A (p.Leu2074His) c.6038T>A (p.Leu2013His) c.5759T>A (p.Leu1920His) c.4802T>A (p.Leu1601His) c.4793T>A (p.Leu1598His) | |
| 5 | g.37045518T>C | CA359504456 | NIPBL | c.6419T>C (p.Leu2140Pro) c.1-19060T>C (n.1-19060T>C) c.5675T>C (p.Leu1892Pro) c.6221T>C (p.Leu2074Pro) c.6038T>C (p.Leu2013Pro) c.5759T>C (p.Leu1920Pro) c.4802T>C (p.Leu1601Pro) c.4793T>C (p.Leu1598Pro) | |
| 5 | g.37045518T>G | CA359504460 | NIPBL | c.6419T>G (p.Leu2140Arg) c.1-19060T>G (n.1-19060T>G) c.5675T>G (p.Leu1892Arg) c.6221T>G (p.Leu2074Arg) c.6038T>G (p.Leu2013Arg) c.5759T>G (p.Leu1920Arg) c.4802T>G (p.Leu1601Arg) c.4793T>G (p.Leu1598Arg) | |
| 5 | g.37045519T>A | CA443906916 | NIPBL | c.6420T>A (p.Leu2140=) c.1-19059T>A (n.1-19059T>A) c.5676T>A (p.Leu1892=) c.6222T>A (p.Leu2074=) c.6039T>A (p.Leu2013=) c.5760T>A (p.Leu1920=) c.4803T>A (p.Leu1601=) c.4794T>A (p.Leu1598=) | |
| 5 | g.37045519T>C | CA443906918 | NIPBL | c.6420T>C (p.Leu2140=) c.1-19059T>C (n.1-19059T>C) c.5676T>C (p.Leu1892=) c.6222T>C (p.Leu2074=) c.6039T>C (p.Leu2013=) c.5760T>C (p.Leu1920=) c.4803T>C (p.Leu1601=) c.4794T>C (p.Leu1598=) | |
| 5 | g.37045519T>G | CA443906920 | NIPBL | c.6420T>G (p.Leu2140=) c.1-19059T>G (n.1-19059T>G) c.5676T>G (p.Leu1892=) c.6222T>G (p.Leu2074=) c.6039T>G (p.Leu2013=) c.5760T>G (p.Leu1920=) c.4803T>G (p.Leu1601=) c.4794T>G (p.Leu1598=) | |
| 5 | g.37045520C>A | CA359504464 | NIPBL | c.6421C>A (p.Leu2141Ile) c.1-19058C>A (n.1-19058C>A) c.5677C>A (p.Leu1893Ile) c.6223C>A (p.Leu2075Ile) c.6040C>A (p.Leu2014Ile) c.5761C>A (p.Leu1921Ile) c.4804C>A (p.Leu1602Ile) c.4795C>A (p.Leu1599Ile) | |
| 5 | g.37045520C>G | CA359504468 | NIPBL | c.6421C>G (p.Leu2141Val) c.1-19058C>G (n.1-19058C>G) c.5677C>G (p.Leu1893Val) c.6223C>G (p.Leu2075Val) c.6040C>G (p.Leu2014Val) c.5761C>G (p.Leu1921Val) c.4804C>G (p.Leu1602Val) c.4795C>G (p.Leu1599Val) | |
| 5 | g.37045520C>T | CA359504471 | NIPBL | c.6421C>T (p.Leu2141Phe) c.1-19058C>T (n.1-19058C>T) c.5677C>T (p.Leu1893Phe) c.6223C>T (p.Leu2075Phe) c.6040C>T (p.Leu2014Phe) c.5761C>T (p.Leu1921Phe) c.4804C>T (p.Leu1602Phe) c.4795C>T (p.Leu1599Phe) | |
| 5 | g.37045521T>A | CA359504475 | NIPBL | c.6422T>A (p.Leu2141His) c.1-19057T>A (n.1-19057T>A) c.5678T>A (p.Leu1893His) c.6224T>A (p.Leu2075His) c.6041T>A (p.Leu2014His) c.5762T>A (p.Leu1921His) c.4805T>A (p.Leu1602His) c.4796T>A (p.Leu1599His) | |
| 5 | g.37045521T>C | CA359504477 | NIPBL | c.6422T>C (p.Leu2141Pro) c.1-19057T>C (n.1-19057T>C) c.5678T>C (p.Leu1893Pro) c.6224T>C (p.Leu2075Pro) c.6041T>C (p.Leu2014Pro) c.5762T>C (p.Leu1921Pro) c.4805T>C (p.Leu1602Pro) c.4796T>C (p.Leu1599Pro) | gnomAD v4 |
| 5 | g.37045521T>G | CA359504478 | NIPBL | c.6422T>G (p.Leu2141Arg) c.1-19057T>G (n.1-19057T>G) c.5678T>G (p.Leu1893Arg) c.6224T>G (p.Leu2075Arg) c.6041T>G (p.Leu2014Arg) c.5762T>G (p.Leu1921Arg) c.4805T>G (p.Leu1602Arg) c.4796T>G (p.Leu1599Arg) | |
| 5 | g.37045522T>A | CA443906932 | NIPBL | c.6423T>A (p.Leu2141=) c.1-19056T>A (n.1-19056T>A) c.5679T>A (p.Leu1893=) c.6225T>A (p.Leu2075=) c.6042T>A (p.Leu2014=) c.5763T>A (p.Leu1921=) c.4806T>A (p.Leu1602=) c.4797T>A (p.Leu1599=) | |
| 5 | g.37045522T>C | CA443906934 | NIPBL | c.6423T>C (p.Leu2141=) c.1-19056T>C (n.1-19056T>C) c.5679T>C (p.Leu1893=) c.6225T>C (p.Leu2075=) c.6042T>C (p.Leu2014=) c.5763T>C (p.Leu1921=) c.4806T>C (p.Leu1602=) c.4797T>C (p.Leu1599=) | |
| 5 | g.37045522T>G | CA443906936 | NIPBL | c.6423T>G (p.Leu2141=) c.1-19056T>G (n.1-19056T>G) c.5679T>G (p.Leu1893=) c.6225T>G (p.Leu2075=) c.6042T>G (p.Leu2014=) c.5763T>G (p.Leu1921=) c.4806T>G (p.Leu1602=) c.4797T>G (p.Leu1599=) | |
| 5 | g.37045523A>C | CA443906939 | NIPBL | c.6424A>C (p.Arg2142=) c.1-19055A>C (n.1-19055A>C) c.5680A>C (p.Arg1894=) c.6226A>C (p.Arg2076=) c.6043A>C (p.Arg2015=) c.5764A>C (p.Arg1922=) c.4807A>C (p.Arg1603=) c.4798A>C (p.Arg1600=) | |
| 5 | g.37045523A>G | CA359504482 | NIPBL | c.6424A>G (p.Arg2142Gly) c.1-19055A>G (n.1-19055A>G) c.5680A>G (p.Arg1894Gly) c.6226A>G (p.Arg2076Gly) c.6043A>G (p.Arg2015Gly) c.5764A>G (p.Arg1922Gly) c.4807A>G (p.Arg1603Gly) c.4798A>G (p.Arg1600Gly) | |
| 5 | g.37045523A>T | CA359504492 | NIPBL | c.6424A>T (p.Arg2142Ter) c.1-19055A>T (n.1-19055A>T) c.5680A>T (p.Arg1894Ter) c.6226A>T (p.Arg2076Ter) c.6043A>T (p.Arg2015Ter) c.5764A>T (p.Arg1922Ter) c.4807A>T (p.Arg1603Ter) c.4798A>T (p.Arg1600Ter) | |
| 5 | g.37045524G>A | CA359504494 | NIPBL | c.6425G>A (p.Arg2142Lys) c.1-19054G>A (n.1-19054G>A) c.5681G>A (p.Arg1894Lys) c.6227G>A (p.Arg2076Lys) c.6044G>A (p.Arg2015Lys) c.5765G>A (p.Arg1922Lys) c.4808G>A (p.Arg1603Lys) c.4799G>A (p.Arg1600Lys) | |
| 5 | g.37045524G>C | CA359504495 | NIPBL | c.6425G>C (p.Arg2142Thr) c.1-19054G>C (n.1-19054G>C) c.5681G>C (p.Arg1894Thr) c.6227G>C (p.Arg2076Thr) c.6044G>C (p.Arg2015Thr) c.5765G>C (p.Arg1922Thr) c.4808G>C (p.Arg1603Thr) c.4799G>C (p.Arg1600Thr) | |
| 5 | g.37045524G>T | CA359504497 | NIPBL | c.6425G>T (p.Arg2142Ile) c.1-19054G>T (n.1-19054G>T) c.5681G>T (p.Arg1894Ile) c.6227G>T (p.Arg2076Ile) c.6044G>T (p.Arg2015Ile) c.5765G>T (p.Arg1922Ile) c.4808G>T (p.Arg1603Ile) c.4799G>T (p.Arg1600Ile) | |
| 5 | g.37045525A>C | CA359504500 | NIPBL | c.6426A>C (p.Arg2142Ser) c.1-19053A>C (n.1-19053A>C) c.5682A>C (p.Arg1894Ser) c.6228A>C (p.Arg2076Ser) c.6045A>C (p.Arg2015Ser) c.5766A>C (p.Arg1922Ser) c.4809A>C (p.Arg1603Ser) c.4800A>C (p.Arg1600Ser) | |
| 5 | g.37045525A>G | CA443906951 | NIPBL | c.6426A>G (p.Arg2142=) c.1-19053A>G (n.1-19053A>G) c.5682A>G (p.Arg1894=) c.6228A>G (p.Arg2076=) c.6045A>G (p.Arg2015=) c.5766A>G (p.Arg1922=) c.4809A>G (p.Arg1603=) c.4800A>G (p.Arg1600=) | |
| 5 | g.37045525A>T | CA359504502 | NIPBL | c.6426A>T (p.Arg2142Ser) c.1-19053A>T (n.1-19053A>T) c.5682A>T (p.Arg1894Ser) c.6228A>T (p.Arg2076Ser) c.6045A>T (p.Arg2015Ser) c.5766A>T (p.Arg1922Ser) c.4809A>T (p.Arg1603Ser) c.4800A>T (p.Arg1600Ser) | |
| 5 | g.37045526T>A | CA359504512 | NIPBL | c.6427T>A (p.Ser2143Thr) c.1-19052T>A (n.1-19052T>A) c.5683T>A (p.Ser1895Thr) c.6229T>A (p.Ser2077Thr) c.6046T>A (p.Ser2016Thr) c.5767T>A (p.Ser1923Thr) c.4810T>A (p.Ser1604Thr) c.4801T>A (p.Ser1601Thr) | COSMIC COSMIC |
| 5 | g.37045526T>C | CA359504514 | NIPBL | c.6427T>C (p.Ser2143Pro) c.1-19052T>C (n.1-19052T>C) c.5683T>C (p.Ser1895Pro) c.6229T>C (p.Ser2077Pro) c.6046T>C (p.Ser2016Pro) c.5767T>C (p.Ser1923Pro) c.4810T>C (p.Ser1604Pro) c.4801T>C (p.Ser1601Pro) | |
| 5 | g.37045526T>G | CA359504510 | NIPBL | c.6427T>G (p.Ser2143Ala) c.1-19052T>G (n.1-19052T>G) c.5683T>G (p.Ser1895Ala) c.6229T>G (p.Ser2077Ala) c.6046T>G (p.Ser2016Ala) c.5767T>G (p.Ser1923Ala) c.4810T>G (p.Ser1604Ala) c.4801T>G (p.Ser1601Ala) | |
| 5 | g.37045527C>A | CA359504523 | NIPBL | c.6428C>A (p.Ser2143Tyr) c.1-19051C>A (n.1-19051C>A) c.5684C>A (p.Ser1895Tyr) c.6230C>A (p.Ser2077Tyr) c.6047C>A (p.Ser2016Tyr) c.5768C>A (p.Ser1923Tyr) c.4811C>A (p.Ser1604Tyr) c.4802C>A (p.Ser1601Tyr) | |
| 5 | g.37045527C>G | CA359504517 | NIPBL | c.6428C>G (p.Ser2143Cys) c.1-19051C>G (n.1-19051C>G) c.5684C>G (p.Ser1895Cys) c.6230C>G (p.Ser2077Cys) c.6047C>G (p.Ser2016Cys) c.5768C>G (p.Ser1923Cys) c.4811C>G (p.Ser1604Cys) c.4802C>G (p.Ser1601Cys) | |
| 5 | g.37045527C>T | CA359504519 | NIPBL | c.6428C>T (p.Ser2143Phe) c.1-19051C>T (n.1-19051C>T) c.5684C>T (p.Ser1895Phe) c.6230C>T (p.Ser2077Phe) c.6047C>T (p.Ser2016Phe) c.5768C>T (p.Ser1923Phe) c.4811C>T (p.Ser1604Phe) c.4802C>T (p.Ser1601Phe) | |
| 5 | g.37045528C>A | CA443906963 | NIPBL | c.6429C>A (p.Ser2143=) c.1-19050C>A (n.1-19050C>A) c.5685C>A (p.Ser1895=) c.6231C>A (p.Ser2077=) c.6048C>A (p.Ser2016=) c.5769C>A (p.Ser1923=) c.4812C>A (p.Ser1604=) c.4803C>A (p.Ser1601=) | dbSNP gnomAD v4 |
| 5 | g.37045528C= | CA1539618530 | NIPBL | c.6429C= (p.Ser2143=) c.1-19050C= (n.1-19050C=) c.5685C= (p.Ser1895=) c.6231C= (p.Ser2077=) c.6048C= (p.Ser2016=) c.5769C= (p.Ser1923=) c.4812C= (p.Ser1604=) c.4803C= (p.Ser1601=) | |
| 5 | g.37045528C>G | CA443906964 | NIPBL | c.6429C>G (p.Ser2143=) c.1-19050C>G (n.1-19050C>G) c.5685C>G (p.Ser1895=) c.6231C>G (p.Ser2077=) c.6048C>G (p.Ser2016=) c.5769C>G (p.Ser1923=) c.4812C>G (p.Ser1604=) c.4803C>G (p.Ser1601=) | gnomAD v4 |
| 5 | g.37045528C>T | CA443906965 | NIPBL | c.6429C>T (p.Ser2143=) c.1-19050C>T (n.1-19050C>T) c.5685C>T (p.Ser1895=) c.6231C>T (p.Ser2077=) c.6048C>T (p.Ser2016=) c.5769C>T (p.Ser1923=) c.4812C>T (p.Ser1604=) c.4803C>T (p.Ser1601=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37045529C>A | CA359504526 | NIPBL | c.6430C>A (p.Leu2144Ile) c.1-19049C>A (n.1-19049C>A) c.5686C>A (p.Leu1896Ile) c.6232C>A (p.Leu2078Ile) c.6049C>A (p.Leu2017Ile) c.5770C>A (p.Leu1924Ile) c.4813C>A (p.Leu1605Ile) c.4804C>A (p.Leu1602Ile) | |
| 5 | g.37045529C>G | CA359504528 | NIPBL | c.6430C>G (p.Leu2144Val) c.1-19049C>G (n.1-19049C>G) c.5686C>G (p.Leu1896Val) c.6232C>G (p.Leu2078Val) c.6049C>G (p.Leu2017Val) c.5770C>G (p.Leu1924Val) c.4813C>G (p.Leu1605Val) c.4804C>G (p.Leu1602Val) | |
| 5 | g.37045529C>T | CA359504532 | NIPBL | c.6430C>T (p.Leu2144Phe) c.1-19049C>T (n.1-19049C>T) c.5686C>T (p.Leu1896Phe) c.6232C>T (p.Leu2078Phe) c.6049C>T (p.Leu2017Phe) c.5770C>T (p.Leu1924Phe) c.4813C>T (p.Leu1605Phe) c.4804C>T (p.Leu1602Phe) | ClinVar |
| 5 | g.37045530T>A | CA359504533 | NIPBL | c.6431T>A (p.Leu2144His) c.1-19048T>A (n.1-19048T>A) c.5687T>A (p.Leu1896His) c.6233T>A (p.Leu2078His) c.6050T>A (p.Leu2017His) c.5771T>A (p.Leu1924His) c.4814T>A (p.Leu1605His) c.4805T>A (p.Leu1602His) | |
| 5 | g.37045530T>C | CA359504534 | NIPBL | c.6431T>C (p.Leu2144Pro) c.1-19048T>C (n.1-19048T>C) c.5687T>C (p.Leu1896Pro) c.6233T>C (p.Leu2078Pro) c.6050T>C (p.Leu2017Pro) c.5771T>C (p.Leu1924Pro) c.4814T>C (p.Leu1605Pro) c.4805T>C (p.Leu1602Pro) | |
| 5 | g.37045530T>G | CA359504535 | NIPBL | c.6431T>G (p.Leu2144Arg) c.1-19048T>G (n.1-19048T>G) c.5687T>G (p.Leu1896Arg) c.6233T>G (p.Leu2078Arg) c.6050T>G (p.Leu2017Arg) c.5771T>G (p.Leu1924Arg) c.4814T>G (p.Leu1605Arg) c.4805T>G (p.Leu1602Arg) | |
| 5 | g.37045531T>A | CA443906966 | NIPBL | c.6432T>A (p.Leu2144=) c.1-19047T>A (n.1-19047T>A) c.5688T>A (p.Leu1896=) c.6234T>A (p.Leu2078=) c.6051T>A (p.Leu2017=) c.5772T>A (p.Leu1924=) c.4815T>A (p.Leu1605=) c.4806T>A (p.Leu1602=) | |
| 5 | g.37045531T>C | CA443906967 | NIPBL | c.6432T>C (p.Leu2144=) c.1-19047T>C (n.1-19047T>C) c.5688T>C (p.Leu1896=) c.6234T>C (p.Leu2078=) c.6051T>C (p.Leu2017=) c.5772T>C (p.Leu1924=) c.4815T>C (p.Leu1605=) c.4806T>C (p.Leu1602=) | |
| 5 | g.37045531T>G | CA443906968 | NIPBL | c.6432T>G (p.Leu2144=) c.1-19047T>G (n.1-19047T>G) c.5688T>G (p.Leu1896=) c.6234T>G (p.Leu2078=) c.6051T>G (p.Leu2017=) c.5772T>G (p.Leu1924=) c.4815T>G (p.Leu1605=) c.4806T>G (p.Leu1602=) | |
| 5 | g.37045532T>A | CA359504536 | NIPBL | c.6433T>A (p.Phe2145Ile) c.1-19046T>A (n.1-19046T>A) c.5689T>A (p.Phe1897Ile) c.6235T>A (p.Phe2079Ile) c.6052T>A (p.Phe2018Ile) c.5773T>A (p.Phe1925Ile) c.4816T>A (p.Phe1606Ile) c.4807T>A (p.Phe1603Ile) | |
| 5 | g.37045532T>C | CA359504538 | NIPBL | c.6433T>C (p.Phe2145Leu) c.1-19046T>C (n.1-19046T>C) c.5689T>C (p.Phe1897Leu) c.6235T>C (p.Phe2079Leu) c.6052T>C (p.Phe2018Leu) c.5773T>C (p.Phe1925Leu) c.4816T>C (p.Phe1606Leu) c.4807T>C (p.Phe1603Leu) | |
| 5 | g.37045532T>G | CA359504542 | NIPBL | c.6433T>G (p.Phe2145Val) c.1-19046T>G (n.1-19046T>G) c.5689T>G (p.Phe1897Val) c.6235T>G (p.Phe2079Val) c.6052T>G (p.Phe2018Val) c.5773T>G (p.Phe1925Val) c.4816T>G (p.Phe1606Val) c.4807T>G (p.Phe1603Val) | |
| 5 | g.37045533T>A | CA359504550 | NIPBL | c.6434T>A (p.Phe2145Tyr) c.1-19045T>A (n.1-19045T>A) c.5690T>A (p.Phe1897Tyr) c.6236T>A (p.Phe2079Tyr) c.6053T>A (p.Phe2018Tyr) c.5774T>A (p.Phe1925Tyr) c.4817T>A (p.Phe1606Tyr) c.4808T>A (p.Phe1603Tyr) | |
| 5 | g.37045533T>C | CA359504546 | NIPBL | c.6434T>C (p.Phe2145Ser) c.1-19045T>C (n.1-19045T>C) c.5690T>C (p.Phe1897Ser) c.6236T>C (p.Phe2079Ser) c.6053T>C (p.Phe2018Ser) c.5774T>C (p.Phe1925Ser) c.4817T>C (p.Phe1606Ser) c.4808T>C (p.Phe1603Ser) | |
| 5 | g.37045533T>G | CA359504545 | NIPBL | c.6434T>G (p.Phe2145Cys) c.1-19045T>G (n.1-19045T>G) c.5690T>G (p.Phe1897Cys) c.6236T>G (p.Phe2079Cys) c.6053T>G (p.Phe2018Cys) c.5774T>G (p.Phe1925Cys) c.4817T>G (p.Phe1606Cys) c.4808T>G (p.Phe1603Cys) | |
| 5 | g.37045534C>A | CA359504553 | NIPBL | c.6435C>A (p.Phe2145Leu) c.1-19044C>A (n.1-19044C>A) c.5691C>A (p.Phe1897Leu) c.6237C>A (p.Phe2079Leu) c.6054C>A (p.Phe2018Leu) c.5775C>A (p.Phe1925Leu) c.4818C>A (p.Phe1606Leu) c.4809C>A (p.Phe1603Leu) | |
| 5 | g.37045534C= | CA1539618535 | NIPBL | c.6435C= (p.Phe2145=) c.1-19044C= (n.1-19044C=) c.5691C= (p.Phe1897=) c.6237C= (p.Phe2079=) c.6054C= (p.Phe2018=) c.5775C= (p.Phe1925=) c.4818C= (p.Phe1606=) c.4809C= (p.Phe1603=) | |
| 5 | g.37045534C>G | CA359504555 | NIPBL | c.6435C>G (p.Phe2145Leu) c.1-19044C>G (n.1-19044C>G) c.5691C>G (p.Phe1897Leu) c.6237C>G (p.Phe2079Leu) c.6054C>G (p.Phe2018Leu) c.5775C>G (p.Phe1925Leu) c.4818C>G (p.Phe1606Leu) c.4809C>G (p.Phe1603Leu) | |
| 5 | g.37045534C>T | CA443906969 | NIPBL | c.6435C>T (p.Phe2145=) c.1-19044C>T (n.1-19044C>T) c.5691C>T (p.Phe1897=) c.6237C>T (p.Phe2079=) c.6054C>T (p.Phe2018=) c.5775C>T (p.Phe1925=) c.4818C>T (p.Phe1606=) c.4809C>T (p.Phe1603=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37045535A>C | CA359504558 | NIPBL | c.6436A>C (p.Thr2146Pro) c.1-19043A>C (n.1-19043A>C) c.5692A>C (p.Thr1898Pro) c.6238A>C (p.Thr2080Pro) c.6055A>C (p.Thr2019Pro) c.5776A>C (p.Thr1926Pro) c.4819A>C (p.Thr1607Pro) c.4810A>C (p.Thr1604Pro) | |
| 5 | g.37045535A>G | CA359504560 | NIPBL | c.6436A>G (p.Thr2146Ala) c.1-19043A>G (n.1-19043A>G) c.5692A>G (p.Thr1898Ala) c.6238A>G (p.Thr2080Ala) c.6055A>G (p.Thr2019Ala) c.5776A>G (p.Thr1926Ala) c.4819A>G (p.Thr1607Ala) c.4810A>G (p.Thr1604Ala) | |
| 5 | g.37045535A>T | CA359504562 | NIPBL | c.6436A>T (p.Thr2146Ser) c.1-19043A>T (n.1-19043A>T) c.5692A>T (p.Thr1898Ser) c.6238A>T (p.Thr2080Ser) c.6055A>T (p.Thr2019Ser) c.5776A>T (p.Thr1926Ser) c.4819A>T (p.Thr1607Ser) c.4810A>T (p.Thr1604Ser) | |
| 5 | g.37045536C>A | CA359504564 | NIPBL | c.6437C>A (p.Thr2146Asn) c.1-19042C>A (n.1-19042C>A) c.5693C>A (p.Thr1898Asn) c.6239C>A (p.Thr2080Asn) c.6056C>A (p.Thr2019Asn) c.5777C>A (p.Thr1926Asn) c.4820C>A (p.Thr1607Asn) c.4811C>A (p.Thr1604Asn) | |
| 5 | g.37045536C>G | CA359504566 | NIPBL | c.6437C>G (p.Thr2146Ser) c.1-19042C>G (n.1-19042C>G) c.5693C>G (p.Thr1898Ser) c.6239C>G (p.Thr2080Ser) c.6056C>G (p.Thr2019Ser) c.5777C>G (p.Thr1926Ser) c.4820C>G (p.Thr1607Ser) c.4811C>G (p.Thr1604Ser) | |
| 5 | g.37045536C>T | CA359504568 | NIPBL | c.6437C>T (p.Thr2146Ile) c.1-19042C>T (n.1-19042C>T) c.5693C>T (p.Thr1898Ile) c.6239C>T (p.Thr2080Ile) c.6056C>T (p.Thr2019Ile) c.5777C>T (p.Thr1926Ile) c.4820C>T (p.Thr1607Ile) c.4811C>T (p.Thr1604Ile) | |
| 5 | g.37045537C>A | CA443906970 | NIPBL | c.6438C>A (p.Thr2146=) c.1-19041C>A (n.1-19041C>A) c.5694C>A (p.Thr1898=) c.6240C>A (p.Thr2080=) c.6057C>A (p.Thr2019=) c.5778C>A (p.Thr1926=) c.4821C>A (p.Thr1607=) c.4812C>A (p.Thr1604=) | |
| 5 | g.37045537C= | CA1539618539 | NIPBL | c.6438C= (p.Thr2146=) c.1-19041C= (n.1-19041C=) c.5694C= (p.Thr1898=) c.6240C= (p.Thr2080=) c.6057C= (p.Thr2019=) c.5778C= (p.Thr1926=) c.4821C= (p.Thr1607=) c.4812C= (p.Thr1604=) | |
| 5 | g.37045537C>G | CA443906971 | NIPBL | c.6438C>G (p.Thr2146=) c.1-19041C>G (n.1-19041C>G) c.5694C>G (p.Thr1898=) c.6240C>G (p.Thr2080=) c.6057C>G (p.Thr2019=) c.5778C>G (p.Thr1926=) c.4821C>G (p.Thr1607=) c.4812C>G (p.Thr1604=) | gnomAD v4 |
| 5 | g.37045537C>T | CA3237000 | NIPBL | c.6438C>T (p.Thr2146=) c.1-19041C>T (n.1-19041C>T) c.5694C>T (p.Thr1898=) c.6240C>T (p.Thr2080=) c.6057C>T (p.Thr2019=) c.5778C>T (p.Thr1926=) c.4821C>T (p.Thr1607=) c.4812C>T (p.Thr1604=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045538G>A | CA3237001 | NIPBL | c.6439G>A (p.Val2147Ile) c.1-19040G>A (n.1-19040G>A) c.5695G>A (p.Val1899Ile) c.6241G>A (p.Val2081Ile) c.6058G>A (p.Val2020Ile) c.5779G>A (p.Val1927Ile) c.4822G>A (p.Val1608Ile) c.4813G>A (p.Val1605Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045538G>C | CA359504576 | NIPBL | c.6439G>C (p.Val2147Leu) c.1-19040G>C (n.1-19040G>C) c.5695G>C (p.Val1899Leu) c.6241G>C (p.Val2081Leu) c.6058G>C (p.Val2020Leu) c.5779G>C (p.Val1927Leu) c.4822G>C (p.Val1608Leu) c.4813G>C (p.Val1605Leu) | |
| 5 | g.37045538G= | CA1539618544 | NIPBL | c.6439G= (p.Val2147=) c.1-19040G= (n.1-19040G=) c.5695G= (p.Val1899=) c.6241G= (p.Val2081=) c.6058G= (p.Val2020=) c.5779G= (p.Val1927=) c.4822G= (p.Val1608=) c.4813G= (p.Val1605=) | |
| 5 | g.37045538G>T | CA359504578 | NIPBL | c.6439G>T (p.Val2147Phe) c.1-19040G>T (n.1-19040G>T) c.5695G>T (p.Val1899Phe) c.6241G>T (p.Val2081Phe) c.6058G>T (p.Val2020Phe) c.5779G>T (p.Val1927Phe) c.4822G>T (p.Val1608Phe) c.4813G>T (p.Val1605Phe) | |
| 5 | g.37045539T>A | CA359504592 | NIPBL | c.6440T>A (p.Val2147Asp) c.1-19039T>A (n.1-19039T>A) c.5696T>A (p.Val1899Asp) c.6242T>A (p.Val2081Asp) c.6059T>A (p.Val2020Asp) c.5780T>A (p.Val1927Asp) c.4823T>A (p.Val1608Asp) c.4814T>A (p.Val1605Asp) | |
| 5 | g.37045539T>C | CA359504596 | NIPBL | c.6440T>C (p.Val2147Ala) c.1-19039T>C (n.1-19039T>C) c.5696T>C (p.Val1899Ala) c.6242T>C (p.Val2081Ala) c.6059T>C (p.Val2020Ala) c.5780T>C (p.Val1927Ala) c.4823T>C (p.Val1608Ala) c.4814T>C (p.Val1605Ala) | ClinVar |
| 5 | g.37045539T>G | CA359504582 | NIPBL | c.6440T>G (p.Val2147Gly) c.1-19039T>G (n.1-19039T>G) c.5696T>G (p.Val1899Gly) c.6242T>G (p.Val2081Gly) c.6059T>G (p.Val2020Gly) c.5780T>G (p.Val1927Gly) c.4823T>G (p.Val1608Gly) c.4814T>G (p.Val1605Gly) | |
| 5 | g.37045540T>A | CA443906972 | NIPBL | c.6441T>A (p.Val2147=) c.1-19038T>A (n.1-19038T>A) c.5697T>A (p.Val1899=) c.6243T>A (p.Val2081=) c.6060T>A (p.Val2020=) c.5781T>A (p.Val1927=) c.4824T>A (p.Val1608=) c.4815T>A (p.Val1605=) | |
| 5 | g.37045540T>C | CA443906973 | NIPBL | c.6441T>C (p.Val2147=) c.1-19038T>C (n.1-19038T>C) c.5697T>C (p.Val1899=) c.6243T>C (p.Val2081=) c.6060T>C (p.Val2020=) c.5781T>C (p.Val1927=) c.4824T>C (p.Val1608=) c.4815T>C (p.Val1605=) | |
| 5 | g.37045540T>G | CA443906974 | NIPBL | c.6441T>G (p.Val2147=) c.1-19038T>G (n.1-19038T>G) c.5697T>G (p.Val1899=) c.6243T>G (p.Val2081=) c.6060T>G (p.Val2020=) c.5781T>G (p.Val1927=) c.4824T>G (p.Val1608=) c.4815T>G (p.Val1605=) | |
| 5 | g.37045541G>A | CA359504600 | NIPBL | c.6442G>A (p.Gly2148Arg) c.1-19037G>A (n.1-19037G>A) c.5698G>A (p.Gly1900Arg) c.6244G>A (p.Gly2082Arg) c.6061G>A (p.Gly2021Arg) c.5782G>A (p.Gly1928Arg) c.4825G>A (p.Gly1609Arg) c.4816G>A (p.Gly1606Arg) | |
| 5 | g.37045541G>C | CA359504601 | NIPBL | c.6442G>C (p.Gly2148Arg) c.1-19037G>C (n.1-19037G>C) c.5698G>C (p.Gly1900Arg) c.6244G>C (p.Gly2082Arg) c.6061G>C (p.Gly2021Arg) c.5782G>C (p.Gly1928Arg) c.4825G>C (p.Gly1609Arg) c.4816G>C (p.Gly1606Arg) | |
| 5 | g.37045541G>T | CA359504603 | NIPBL | c.6442G>T (p.Gly2148Ter) c.1-19037G>T (n.1-19037G>T) c.5698G>T (p.Gly1900Ter) c.6244G>T (p.Gly2082Ter) c.6061G>T (p.Gly2021Ter) c.5782G>T (p.Gly1928Ter) c.4825G>T (p.Gly1609Ter) c.4816G>T (p.Gly1606Ter) | |
| 5 | g.37045542G>A | CA359504605 | NIPBL | c.6443G>A (p.Gly2148Glu) c.1-19036G>A (n.1-19036G>A) c.5699G>A (p.Gly1900Glu) c.6245G>A (p.Gly2082Glu) c.6062G>A (p.Gly2021Glu) c.5783G>A (p.Gly1928Glu) c.4826G>A (p.Gly1609Glu) c.4817G>A (p.Gly1606Glu) | |
| 5 | g.37045542G>C | CA359504606 | NIPBL | c.6443G>C (p.Gly2148Ala) c.1-19036G>C (n.1-19036G>C) c.5699G>C (p.Gly1900Ala) c.6245G>C (p.Gly2082Ala) c.6062G>C (p.Gly2021Ala) c.5783G>C (p.Gly1928Ala) c.4826G>C (p.Gly1609Ala) c.4817G>C (p.Gly1606Ala) | |
| 5 | g.37045542G>T | CA359504608 | NIPBL | c.6443G>T (p.Gly2148Val) c.1-19036G>T (n.1-19036G>T) c.5699G>T (p.Gly1900Val) c.6245G>T (p.Gly2082Val) c.6062G>T (p.Gly2021Val) c.5783G>T (p.Gly1928Val) c.4826G>T (p.Gly1609Val) c.4817G>T (p.Gly1606Val) | |
| 5 | g.37045543A= | CA1539618546 | NIPBL | c.6444A= (p.Gly2148=) c.1-19035A= (n.1-19035A=) c.5700A= (p.Gly1900=) c.6246A= (p.Gly2082=) c.6063A= (p.Gly2021=) c.5784A= (p.Gly1928=) c.4827A= (p.Gly1609=) c.4818A= (p.Gly1606=) | |
| 5 | g.37045543A>C | CA443906975 | NIPBL | c.6444A>C (p.Gly2148=) c.1-19035A>C (n.1-19035A>C) c.5700A>C (p.Gly1900=) c.6246A>C (p.Gly2082=) c.6063A>C (p.Gly2021=) c.5784A>C (p.Gly1928=) c.4827A>C (p.Gly1609=) c.4818A>C (p.Gly1606=) | |
| 5 | g.37045543A>G | CA443906976 | NIPBL | c.6444A>G (p.Gly2148=) c.1-19035A>G (n.1-19035A>G) c.5700A>G (p.Gly1900=) c.6246A>G (p.Gly2082=) c.6063A>G (p.Gly2021=) c.5784A>G (p.Gly1928=) c.4827A>G (p.Gly1609=) c.4818A>G (p.Gly1606=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37045543A>T | CA443906977 | NIPBL | c.6444A>T (p.Gly2148=) c.1-19035A>T (n.1-19035A>T) c.5700A>T (p.Gly1900=) c.6246A>T (p.Gly2082=) c.6063A>T (p.Gly2021=) c.5784A>T (p.Gly1928=) c.4827A>T (p.Gly1609=) c.4818A>T (p.Gly1606=) | |
| 5 | g.37045544G>A | CA359504614 | NIPBL | c.6445G>A (p.Ala2149Thr) c.1-19034G>A (n.1-19034G>A) c.5701G>A (p.Ala1901Thr) c.6247G>A (p.Ala2083Thr) c.6064G>A (p.Ala2022Thr) c.5785G>A (p.Ala1929Thr) c.4828G>A (p.Ala1610Thr) c.4819G>A (p.Ala1607Thr) | |
| 5 | g.37045544G>C | CA359504609 | NIPBL | c.6445G>C (p.Ala2149Pro) c.1-19034G>C (n.1-19034G>C) c.5701G>C (p.Ala1901Pro) c.6247G>C (p.Ala2083Pro) c.6064G>C (p.Ala2022Pro) c.5785G>C (p.Ala1929Pro) c.4828G>C (p.Ala1610Pro) c.4819G>C (p.Ala1607Pro) | |
| 5 | g.37045544G>T | CA359504611 | NIPBL | c.6445G>T (p.Ala2149Ser) c.1-19034G>T (n.1-19034G>T) c.5701G>T (p.Ala1901Ser) c.6247G>T (p.Ala2083Ser) c.6064G>T (p.Ala2022Ser) c.5785G>T (p.Ala1929Ser) c.4828G>T (p.Ala1610Ser) c.4819G>T (p.Ala1607Ser) | |
| 5 | g.37045545C>A | CA359504617 | NIPBL | c.6446C>A (p.Ala2149Glu) c.1-19033C>A (n.1-19033C>A) c.5702C>A (p.Ala1901Glu) c.6248C>A (p.Ala2083Glu) c.6065C>A (p.Ala2022Glu) c.5786C>A (p.Ala1929Glu) c.4829C>A (p.Ala1610Glu) c.4820C>A (p.Ala1607Glu) | |
| 5 | g.37045545C>G | CA359504620 | NIPBL | c.6446C>G (p.Ala2149Gly) c.1-19033C>G (n.1-19033C>G) c.5702C>G (p.Ala1901Gly) c.6248C>G (p.Ala2083Gly) c.6065C>G (p.Ala2022Gly) c.5786C>G (p.Ala1929Gly) c.4829C>G (p.Ala1610Gly) c.4820C>G (p.Ala1607Gly) | |
| 5 | g.37045545C>T | CA359504623 | NIPBL | c.6446C>T (p.Ala2149Val) c.1-19033C>T (n.1-19033C>T) c.5702C>T (p.Ala1901Val) c.6248C>T (p.Ala2083Val) c.6065C>T (p.Ala2022Val) c.5786C>T (p.Ala1929Val) c.4829C>T (p.Ala1610Val) c.4820C>T (p.Ala1607Val) | |
| 5 | g.37045546A= | CA1539618548 | NIPBL | c.6447A= (p.Ala2149=) c.1-19032A= (n.1-19032A=) c.5703A= (p.Ala1901=) c.6249A= (p.Ala2083=) c.6066A= (p.Ala2022=) c.5787A= (p.Ala1929=) c.4830A= (p.Ala1610=) c.4821A= (p.Ala1607=) | |
| 5 | g.37045546A>C | CA443906978 | NIPBL | c.6447A>C (p.Ala2149=) c.1-19032A>C (n.1-19032A>C) c.5703A>C (p.Ala1901=) c.6249A>C (p.Ala2083=) c.6066A>C (p.Ala2022=) c.5787A>C (p.Ala1929=) c.4830A>C (p.Ala1610=) c.4821A>C (p.Ala1607=) | |
| 5 | g.37045546A>G | CA443906979 | NIPBL | c.6447A>G (p.Ala2149=) c.1-19032A>G (n.1-19032A>G) c.5703A>G (p.Ala1901=) c.6249A>G (p.Ala2083=) c.6066A>G (p.Ala2022=) c.5787A>G (p.Ala1929=) c.4830A>G (p.Ala1610=) c.4821A>G (p.Ala1607=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37045546A>T | CA443906980 | NIPBL | c.6447A>T (p.Ala2149=) c.1-19032A>T (n.1-19032A>T) c.5703A>T (p.Ala1901=) c.6249A>T (p.Ala2083=) c.6066A>T (p.Ala2022=) c.5787A>T (p.Ala1929=) c.4830A>T (p.Ala1610=) c.4821A>T (p.Ala1607=) | |
| 5 | g.37045547C>A | CA359504624 | NIPBL | c.6448C>A (p.Leu2150Ile) c.1-19031C>A (n.1-19031C>A) c.5704C>A (p.Leu1902Ile) c.6250C>A (p.Leu2084Ile) c.6067C>A (p.Leu2023Ile) c.5788C>A (p.Leu1930Ile) c.4831C>A (p.Leu1611Ile) c.4822C>A (p.Leu1608Ile) | |
| 5 | g.37045547C>G | CA359504626 | NIPBL | c.6448C>G (p.Leu2150Val) c.1-19031C>G (n.1-19031C>G) c.5704C>G (p.Leu1902Val) c.6250C>G (p.Leu2084Val) c.6067C>G (p.Leu2023Val) c.5788C>G (p.Leu1930Val) c.4831C>G (p.Leu1611Val) c.4822C>G (p.Leu1608Val) | |
| 5 | g.37045547C>T | CA443906981 | NIPBL | c.6448C>T (p.Leu2150=) c.1-19031C>T (n.1-19031C>T) c.5704C>T (p.Leu1902=) c.6250C>T (p.Leu2084=) c.6067C>T (p.Leu2023=) c.5788C>T (p.Leu1930=) c.4831C>T (p.Leu1611=) c.4822C>T (p.Leu1608=) | gnomAD v4 |
| 5 | g.37045548T>A | CA359504628 | NIPBL | c.6449T>A (p.Leu2150Gln) c.1-19030T>A (n.1-19030T>A) c.5705T>A (p.Leu1902Gln) c.6251T>A (p.Leu2084Gln) c.6068T>A (p.Leu2023Gln) c.5789T>A (p.Leu1930Gln) c.4832T>A (p.Leu1611Gln) c.4823T>A (p.Leu1608Gln) | |
| 5 | g.37045548T>C | CA359504635 | NIPBL | c.6449T>C (p.Leu2150Pro) c.1-19030T>C (n.1-19030T>C) c.5705T>C (p.Leu1902Pro) c.6251T>C (p.Leu2084Pro) c.6068T>C (p.Leu2023Pro) c.5789T>C (p.Leu1930Pro) c.4832T>C (p.Leu1611Pro) c.4823T>C (p.Leu1608Pro) | |
| 5 | g.37045548T>G | CA359504631 | NIPBL | c.6449T>G (p.Leu2150Arg) c.1-19030T>G (n.1-19030T>G) c.5705T>G (p.Leu1902Arg) c.6251T>G (p.Leu2084Arg) c.6068T>G (p.Leu2023Arg) c.5789T>G (p.Leu1930Arg) c.4832T>G (p.Leu1611Arg) c.4823T>G (p.Leu1608Arg) | |
| 5 | g.37045549A= | CA1539618553 | NIPBL | c.6450A= (p.Leu2150=) c.1-19029A= (n.1-19029A=) c.5706A= (p.Leu1902=) c.6252A= (p.Leu2084=) c.6069A= (p.Leu2023=) c.5790A= (p.Leu1930=) c.4833A= (p.Leu1611=) c.4824A= (p.Leu1608=) | |
| 5 | g.37045549A>C | CA443906982 | NIPBL | c.6450A>C (p.Leu2150=) c.1-19029A>C (n.1-19029A>C) c.5706A>C (p.Leu1902=) c.6252A>C (p.Leu2084=) c.6069A>C (p.Leu2023=) c.5790A>C (p.Leu1930=) c.4833A>C (p.Leu1611=) c.4824A>C (p.Leu1608=) | |
| 5 | g.37045549A>G | CA443906983 | NIPBL | c.6450A>G (p.Leu2150=) c.1-19029A>G (n.1-19029A>G) c.5706A>G (p.Leu1902=) c.6252A>G (p.Leu2084=) c.6069A>G (p.Leu2023=) c.5790A>G (p.Leu1930=) c.4833A>G (p.Leu1611=) c.4824A>G (p.Leu1608=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.37045549A>T | CA443906984 | NIPBL | c.6450A>T (p.Leu2150=) c.1-19029A>T (n.1-19029A>T) c.5706A>T (p.Leu1902=) c.6252A>T (p.Leu2084=) c.6069A>T (p.Leu2023=) c.5790A>T (p.Leu1930=) c.4833A>T (p.Leu1611=) c.4824A>T (p.Leu1608=) | gnomAD v4 |
| 5 | g.37045550T>A | CA359504637 | NIPBL | c.6451T>A (p.Cys2151Ser) c.1-19028T>A (n.1-19028T>A) c.5707T>A (p.Cys1903Ser) c.6253T>A (p.Cys2085Ser) c.6070T>A (p.Cys2024Ser) c.5791T>A (p.Cys1931Ser) c.4834T>A (p.Cys1612Ser) c.4825T>A (p.Cys1609Ser) | |
| 5 | g.37045550T>C | CA359504640 | NIPBL | c.6451T>C (p.Cys2151Arg) c.1-19028T>C (n.1-19028T>C) c.5707T>C (p.Cys1903Arg) c.6253T>C (p.Cys2085Arg) c.6070T>C (p.Cys2024Arg) c.5791T>C (p.Cys1931Arg) c.4834T>C (p.Cys1612Arg) c.4825T>C (p.Cys1609Arg) | |
| 5 | g.37045550T>G | CA359504644 | NIPBL | c.6451T>G (p.Cys2151Gly) c.1-19028T>G (n.1-19028T>G) c.5707T>G (p.Cys1903Gly) c.6253T>G (p.Cys2085Gly) c.6070T>G (p.Cys2024Gly) c.5791T>G (p.Cys1931Gly) c.4834T>G (p.Cys1612Gly) c.4825T>G (p.Cys1609Gly) | |
| 5 | g.37045551G>A | CA359504646 | NIPBL | c.6452G>A (p.Cys2151Tyr) c.1-19027G>A (n.1-19027G>A) c.5708G>A (p.Cys1903Tyr) c.6254G>A (p.Cys2085Tyr) c.6071G>A (p.Cys2024Tyr) c.5792G>A (p.Cys1931Tyr) c.4835G>A (p.Cys1612Tyr) c.4826G>A (p.Cys1609Tyr) | ClinVar |
| 5 | g.37045551G>C | CA359504648 | NIPBL | c.6452G>C (p.Cys2151Ser) c.1-19027G>C (n.1-19027G>C) c.5708G>C (p.Cys1903Ser) c.6254G>C (p.Cys2085Ser) c.6071G>C (p.Cys2024Ser) c.5792G>C (p.Cys1931Ser) c.4835G>C (p.Cys1612Ser) c.4826G>C (p.Cys1609Ser) | |
| 5 | g.37045551G>T | CA359504649 | NIPBL | c.6452G>T (p.Cys2151Phe) c.1-19027G>T (n.1-19027G>T) c.5708G>T (p.Cys1903Phe) c.6254G>T (p.Cys2085Phe) c.6071G>T (p.Cys2024Phe) c.5792G>T (p.Cys1931Phe) c.4835G>T (p.Cys1612Phe) c.4826G>T (p.Cys1609Phe) | |
| 5 | g.37045552T>A | CA359504654 | NIPBL | c.6453T>A (p.Cys2151Ter) c.1-19026T>A (n.1-19026T>A) c.5709T>A (p.Cys1903Ter) c.6255T>A (p.Cys2085Ter) c.6072T>A (p.Cys2024Ter) c.5793T>A (p.Cys1931Ter) c.4836T>A (p.Cys1612Ter) c.4827T>A (p.Cys1609Ter) | |
| 5 | g.37045552T>C | CA443906985 | NIPBL | c.6453T>C (p.Cys2151=) c.1-19026T>C (n.1-19026T>C) c.5709T>C (p.Cys1903=) c.6255T>C (p.Cys2085=) c.6072T>C (p.Cys2024=) c.5793T>C (p.Cys1931=) c.4836T>C (p.Cys1612=) c.4827T>C (p.Cys1609=) | gnomAD v4 |
| 5 | g.37045552T>G | CA359504655 | NIPBL | c.6453T>G (p.Cys2151Trp) c.1-19026T>G (n.1-19026T>G) c.5709T>G (p.Cys1903Trp) c.6255T>G (p.Cys2085Trp) c.6072T>G (p.Cys2024Trp) c.5793T>G (p.Cys1931Trp) c.4836T>G (p.Cys1612Trp) c.4827T>G (p.Cys1609Trp) | |
| 5 | g.37045553C>A | CA443906986 | NIPBL | c.6454C>A (p.Arg2152=) c.1-19025C>A (n.1-19025C>A) c.5710C>A (p.Arg1904=) c.6256C>A (p.Arg2086=) c.6073C>A (p.Arg2025=) c.5794C>A (p.Arg1932=) c.4837C>A (p.Arg1613=) c.4828C>A (p.Arg1610=) | |
| 5 | g.37045553C= | CA1539618556 | NIPBL | c.6454C= (p.Arg2152=) c.1-19025C= (n.1-19025C=) c.5710C= (p.Arg1904=) c.6256C= (p.Arg2086=) c.6073C= (p.Arg2025=) c.5794C= (p.Arg1932=) c.4837C= (p.Arg1613=) c.4828C= (p.Arg1610=) | |
| 5 | g.37045553C>G | CA359504658 | NIPBL | c.6454C>G (p.Arg2152Gly) c.1-19025C>G (n.1-19025C>G) c.5710C>G (p.Arg1904Gly) c.6256C>G (p.Arg2086Gly) c.6073C>G (p.Arg2025Gly) c.5794C>G (p.Arg1932Gly) c.4837C>G (p.Arg1613Gly) c.4828C>G (p.Arg1610Gly) | |
| 5 | g.37045553C>T | CA359504660 | NIPBL | c.6454C>T (p.Arg2152Trp) c.1-19025C>T (n.1-19025C>T) c.5710C>T (p.Arg1904Trp) c.6256C>T (p.Arg2086Trp) c.6073C>T (p.Arg2025Trp) c.5794C>T (p.Arg1932Trp) c.4837C>T (p.Arg1613Trp) c.4828C>T (p.Arg1610Trp) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.37045554G>A | CA3237002 | NIPBL | c.6455G>A (p.Arg2152Gln) c.1-19024G>A (n.1-19024G>A) c.5711G>A (p.Arg1904Gln) c.6257G>A (p.Arg2086Gln) c.6074G>A (p.Arg2025Gln) c.5795G>A (p.Arg1932Gln) c.4838G>A (p.Arg1613Gln) c.4829G>A (p.Arg1610Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37045554G>C | CA359504668 | NIPBL | c.6455G>C (p.Arg2152Pro) c.1-19024G>C (n.1-19024G>C) c.5711G>C (p.Arg1904Pro) c.6257G>C (p.Arg2086Pro) c.6074G>C (p.Arg2025Pro) c.5795G>C (p.Arg1932Pro) c.4838G>C (p.Arg1613Pro) c.4829G>C (p.Arg1610Pro) | ClinVar dbSNP |
| 5 | g.37045554G= | CA1539618564 | NIPBL | c.6455G= (p.Arg2152=) c.1-19024G= (n.1-19024G=) c.5711G= (p.Arg1904=) c.6257G= (p.Arg2086=) c.6074G= (p.Arg2025=) c.5795G= (p.Arg1932=) c.4838G= (p.Arg1613=) c.4829G= (p.Arg1610=) | |
| 5 | g.37045554G>T | CA359504669 | NIPBL | c.6455G>T (p.Arg2152Leu) c.1-19024G>T (n.1-19024G>T) c.5711G>T (p.Arg1904Leu) c.6257G>T (p.Arg2086Leu) c.6074G>T (p.Arg2025Leu) c.5795G>T (p.Arg1932Leu) c.4838G>T (p.Arg1613Leu) c.4829G>T (p.Arg1610Leu) | |
| 5 | g.37045555G>A | CA443906987 | NIPBL | c.6456G>A (p.Arg2152=) c.1-19023G>A (n.1-19023G>A) c.5712G>A (p.Arg1904=) c.6258G>A (p.Arg2086=) c.6075G>A (p.Arg2025=) c.5796G>A (p.Arg1932=) c.4839G>A (p.Arg1613=) c.4830G>A (p.Arg1610=) | |
| 5 | g.37045555G>C | CA443906988 | NIPBL | c.6456G>C (p.Arg2152=) c.1-19023G>C (n.1-19023G>C) c.5712G>C (p.Arg1904=) c.6258G>C (p.Arg2086=) c.6075G>C (p.Arg2025=) c.5796G>C (p.Arg1932=) c.4839G>C (p.Arg1613=) c.4830G>C (p.Arg1610=) | |
| 5 | g.37045555G>T | CA443906989 | NIPBL | c.6456G>T (p.Arg2152=) c.1-19023G>T (n.1-19023G>T) c.5712G>T (p.Arg1904=) c.6258G>T (p.Arg2086=) c.6075G>T (p.Arg2025=) c.5796G>T (p.Arg1932=) c.4839G>T (p.Arg1613=) c.4830G>T (p.Arg1610=) | dbSNP |
| 5 | g.37045556C>A | CA359504673 | NIPBL | c.6457C>A (p.His2153Asn) c.1-19022C>A (n.1-19022C>A) c.5713C>A (p.His1905Asn) c.6259C>A (p.His2087Asn) c.6076C>A (p.His2026Asn) c.5797C>A (p.His1933Asn) c.4840C>A (p.His1614Asn) c.4831C>A (p.His1611Asn) | |
| 5 | g.37045556C>G | CA359504678 | NIPBL | c.6457C>G (p.His2153Asp) c.1-19022C>G (n.1-19022C>G) c.5713C>G (p.His1905Asp) c.6259C>G (p.His2087Asp) c.6076C>G (p.His2026Asp) c.5797C>G (p.His1933Asp) c.4840C>G (p.His1614Asp) c.4831C>G (p.His1611Asp) | |
| 5 | g.37045556C>T | CA359504671 | NIPBL | c.6457C>T (p.His2153Tyr) c.1-19022C>T (n.1-19022C>T) c.5713C>T (p.His1905Tyr) c.6259C>T (p.His2087Tyr) c.6076C>T (p.His2026Tyr) c.5797C>T (p.His1933Tyr) c.4840C>T (p.His1614Tyr) c.4831C>T (p.His1611Tyr) | |
| 5 | g.37045557A>C | CA359504684 | NIPBL | c.6458A>C (p.His2153Pro) c.1-19021A>C (n.1-19021A>C) c.5714A>C (p.His1905Pro) c.6260A>C (p.His2087Pro) c.6077A>C (p.His2026Pro) c.5798A>C (p.His1933Pro) c.4841A>C (p.His1614Pro) c.4832A>C (p.His1611Pro) | |
| 5 | g.37045557A>G | CA359504681 | NIPBL | c.6458A>G (p.His2153Arg) c.1-19021A>G (n.1-19021A>G) c.5714A>G (p.His1905Arg) c.6260A>G (p.His2087Arg) c.6077A>G (p.His2026Arg) c.5798A>G (p.His1933Arg) c.4841A>G (p.His1614Arg) c.4832A>G (p.His1611Arg) | |
| 5 | g.37045557A>T | CA359504685 | NIPBL | c.6458A>T (p.His2153Leu) c.1-19021A>T (n.1-19021A>T) c.5714A>T (p.His1905Leu) c.6260A>T (p.His2087Leu) c.6077A>T (p.His2026Leu) c.5798A>T (p.His1933Leu) c.4841A>T (p.His1614Leu) c.4832A>T (p.His1611Leu) | |
| 5 | g.37045558T>A | CA359504688 | NIPBL | c.6459T>A (p.His2153Gln) c.1-19020T>A (n.1-19020T>A) c.5715T>A (p.His1905Gln) c.6261T>A (p.His2087Gln) c.6078T>A (p.His2026Gln) c.5799T>A (p.His1933Gln) c.4842T>A (p.His1614Gln) c.4833T>A (p.His1611Gln) | |
| 5 | g.37045558T>C | CA443906990 | NIPBL | c.6459T>C (p.His2153=) c.1-19020T>C (n.1-19020T>C) c.5715T>C (p.His1905=) c.6261T>C (p.His2087=) c.6078T>C (p.His2026=) c.5799T>C (p.His1933=) c.4842T>C (p.His1614=) c.4833T>C (p.His1611=) | |
| 5 | g.37045558T>G | CA359504690 | NIPBL | c.6459T>G (p.His2153Gln) c.1-19020T>G (n.1-19020T>G) c.5715T>G (p.His1905Gln) c.6261T>G (p.His2087Gln) c.6078T>G (p.His2026Gln) c.5799T>G (p.His1933Gln) c.4842T>G (p.His1614Gln) c.4833T>G (p.His1611Gln) | |
| 5 | g.37045559T>A | CA359504692 | NIPBL | c.6460T>A (p.Phe2154Ile) c.1-19019T>A (n.1-19019T>A) c.5716T>A (p.Phe1906Ile) c.6262T>A (p.Phe2088Ile) c.6079T>A (p.Phe2027Ile) c.5800T>A (p.Phe1934Ile) c.4843T>A (p.Phe1615Ile) c.4834T>A (p.Phe1612Ile) | |
| 5 | g.37045559T>C | CA359504693 | NIPBL | c.6460T>C (p.Phe2154Leu) c.1-19019T>C (n.1-19019T>C) c.5716T>C (p.Phe1906Leu) c.6262T>C (p.Phe2088Leu) c.6079T>C (p.Phe2027Leu) c.5800T>C (p.Phe1934Leu) c.4843T>C (p.Phe1615Leu) c.4834T>C (p.Phe1612Leu) | |
| 5 | g.37045559T>G | CA359504694 | NIPBL | c.6460T>G (p.Phe2154Val) c.1-19019T>G (n.1-19019T>G) c.5716T>G (p.Phe1906Val) c.6262T>G (p.Phe2088Val) c.6079T>G (p.Phe2027Val) c.5800T>G (p.Phe1934Val) c.4843T>G (p.Phe1615Val) c.4834T>G (p.Phe1612Val) | |
| 5 | g.37045560T>A | CA359504696 | NIPBL | c.6461T>A (p.Phe2154Tyr) c.1-19018T>A (n.1-19018T>A) c.5717T>A (p.Phe1906Tyr) c.6263T>A (p.Phe2088Tyr) c.6080T>A (p.Phe2027Tyr) c.5801T>A (p.Phe1934Tyr) c.4844T>A (p.Phe1615Tyr) c.4835T>A (p.Phe1612Tyr) | |
| 5 | g.37045560T>C | CA359504698 | NIPBL | c.6461T>C (p.Phe2154Ser) c.1-19018T>C (n.1-19018T>C) c.5717T>C (p.Phe1906Ser) c.6263T>C (p.Phe2088Ser) c.6080T>C (p.Phe2027Ser) c.5801T>C (p.Phe1934Ser) c.4844T>C (p.Phe1615Ser) c.4835T>C (p.Phe1612Ser) | |
| 5 | g.37045560T>G | CA359504699 | NIPBL | c.6461T>G (p.Phe2154Cys) c.1-19018T>G (n.1-19018T>G) c.5717T>G (p.Phe1906Cys) c.6263T>G (p.Phe2088Cys) c.6080T>G (p.Phe2027Cys) c.5801T>G (p.Phe1934Cys) c.4844T>G (p.Phe1615Cys) c.4835T>G (p.Phe1612Cys) | |
| 5 | g.37045561T>A | CA359504700 | NIPBL | c.6462T>A (p.Phe2154Leu) c.1-19017T>A (n.1-19017T>A) c.5718T>A (p.Phe1906Leu) c.6264T>A (p.Phe2088Leu) c.6081T>A (p.Phe2027Leu) c.5802T>A (p.Phe1934Leu) c.4845T>A (p.Phe1615Leu) c.4836T>A (p.Phe1612Leu) | |
| 5 | g.37045561T>C | CA443906991 | NIPBL | c.6462T>C (p.Phe2154=) c.1-19017T>C (n.1-19017T>C) c.5718T>C (p.Phe1906=) c.6264T>C (p.Phe2088=) c.6081T>C (p.Phe2027=) c.5802T>C (p.Phe1934=) c.4845T>C (p.Phe1615=) c.4836T>C (p.Phe1612=) | |
| 5 | g.37045561T>G | CA359504704 | NIPBL | c.6462T>G (p.Phe2154Leu) c.1-19017T>G (n.1-19017T>G) c.5718T>G (p.Phe1906Leu) c.6264T>G (p.Phe2088Leu) c.6081T>G (p.Phe2027Leu) c.5802T>G (p.Phe1934Leu) c.4845T>G (p.Phe1615Leu) c.4836T>G (p.Phe1612Leu) | |
| 5 | g.37045562G>A | CA359504706 | NIPBL | c.6463G>A (p.Asp2155Asn) c.1-19016G>A (n.1-19016G>A) c.5719G>A (p.Asp1907Asn) c.6265G>A (p.Asp2089Asn) c.6082G>A (p.Asp2028Asn) c.5803G>A (p.Asp1935Asn) c.4846G>A (p.Asp1616Asn) c.4837G>A (p.Asp1613Asn) | |
| 5 | g.37045562G>C | CA359504707 | NIPBL | c.6463G>C (p.Asp2155His) c.1-19016G>C (n.1-19016G>C) c.5719G>C (p.Asp1907His) c.6265G>C (p.Asp2089His) c.6082G>C (p.Asp2028His) c.5803G>C (p.Asp1935His) c.4846G>C (p.Asp1616His) c.4837G>C (p.Asp1613His) | |
| 5 | g.37045562G>T | CA359504709 | NIPBL | c.6463G>T (p.Asp2155Tyr) c.1-19016G>T (n.1-19016G>T) c.5719G>T (p.Asp1907Tyr) c.6265G>T (p.Asp2089Tyr) c.6082G>T (p.Asp2028Tyr) c.5803G>T (p.Asp1935Tyr) c.4846G>T (p.Asp1616Tyr) c.4837G>T (p.Asp1613Tyr) | gnomAD v4 |
| 5 | g.37045563A>C | CA359504718 | NIPBL | c.6464A>C (p.Asp2155Ala) c.1-19015A>C (n.1-19015A>C) c.5720A>C (p.Asp1907Ala) c.6266A>C (p.Asp2089Ala) c.6083A>C (p.Asp2028Ala) c.5804A>C (p.Asp1935Ala) c.4847A>C (p.Asp1616Ala) c.4838A>C (p.Asp1613Ala) | |
| 5 | g.37045563A>G | CA359504713 | NIPBL | c.6464A>G (p.Asp2155Gly) c.1-19015A>G (n.1-19015A>G) c.5720A>G (p.Asp1907Gly) c.6266A>G (p.Asp2089Gly) c.6083A>G (p.Asp2028Gly) c.5804A>G (p.Asp1935Gly) c.4847A>G (p.Asp1616Gly) c.4838A>G (p.Asp1613Gly) | |
| 5 | g.37045563A>T | CA359504711 | NIPBL | c.6464A>T (p.Asp2155Val) c.1-19015A>T (n.1-19015A>T) c.5720A>T (p.Asp1907Val) c.6266A>T (p.Asp2089Val) c.6083A>T (p.Asp2028Val) c.5804A>T (p.Asp1935Val) c.4847A>T (p.Asp1616Val) c.4838A>T (p.Asp1613Val) | |
| 5 | g.37045564T>A | CA359504720 | NIPBL | c.6465T>A (p.Asp2155Glu) c.1-19014T>A (n.1-19014T>A) c.5721T>A (p.Asp1907Glu) c.6267T>A (p.Asp2089Glu) c.6084T>A (p.Asp2028Glu) c.5805T>A (p.Asp1935Glu) c.4848T>A (p.Asp1616Glu) c.4839T>A (p.Asp1613Glu) | |
| 5 | g.37045564T>C | CA443906992 | NIPBL | c.6465T>C (p.Asp2155=) c.1-19014T>C (n.1-19014T>C) c.5721T>C (p.Asp1907=) c.6267T>C (p.Asp2089=) c.6084T>C (p.Asp2028=) c.5805T>C (p.Asp1935=) c.4848T>C (p.Asp1616=) c.4839T>C (p.Asp1613=) | |
| 5 | g.37045564T>G | CA359504725 | NIPBL | c.6465T>G (p.Asp2155Glu) c.1-19014T>G (n.1-19014T>G) c.5721T>G (p.Asp1907Glu) c.6267T>G (p.Asp2089Glu) c.6084T>G (p.Asp2028Glu) c.5805T>G (p.Asp1935Glu) c.4848T>G (p.Asp1616Glu) c.4839T>G (p.Asp1613Glu) | |
| 5 | g.37045565T>A | CA359504727 | NIPBL | c.6466T>A (p.Phe2156Ile) c.1-19013T>A (n.1-19013T>A) c.5722T>A (p.Phe1908Ile) c.6268T>A (p.Phe2090Ile) c.6085T>A (p.Phe2029Ile) c.5806T>A (p.Phe1936Ile) c.4849T>A (p.Phe1617Ile) c.4840T>A (p.Phe1614Ile) | |
| 5 | g.37045565T>C | CA359504729 | NIPBL | c.6466T>C (p.Phe2156Leu) c.1-19013T>C (n.1-19013T>C) c.5722T>C (p.Phe1908Leu) c.6268T>C (p.Phe2090Leu) c.6085T>C (p.Phe2029Leu) c.5806T>C (p.Phe1936Leu) c.4849T>C (p.Phe1617Leu) c.4840T>C (p.Phe1614Leu) | |
| 5 | g.37045565T>G | CA359504731 | NIPBL | c.6466T>G (p.Phe2156Val) c.1-19013T>G (n.1-19013T>G) c.5722T>G (p.Phe1908Val) c.6268T>G (p.Phe2090Val) c.6085T>G (p.Phe2029Val) c.5806T>G (p.Phe1936Val) c.4849T>G (p.Phe1617Val) c.4840T>G (p.Phe1614Val) | |
| 5 | g.37045566T>A | CA359504733 | NIPBL | c.6467T>A (p.Phe2156Tyr) c.1-19012T>A (n.1-19012T>A) c.5723T>A (p.Phe1908Tyr) c.6269T>A (p.Phe2090Tyr) c.6086T>A (p.Phe2029Tyr) c.5807T>A (p.Phe1936Tyr) c.4850T>A (p.Phe1617Tyr) c.4841T>A (p.Phe1614Tyr) | |
| 5 | g.37045566T>C | CA359504734 | NIPBL | c.6467T>C (p.Phe2156Ser) c.1-19012T>C (n.1-19012T>C) c.5723T>C (p.Phe1908Ser) c.6269T>C (p.Phe2090Ser) c.6086T>C (p.Phe2029Ser) c.5807T>C (p.Phe1936Ser) c.4850T>C (p.Phe1617Ser) c.4841T>C (p.Phe1614Ser) | |
| 5 | g.37045566T>G | CA359504736 | NIPBL | c.6467T>G (p.Phe2156Cys) c.1-19012T>G (n.1-19012T>G) c.5723T>G (p.Phe1908Cys) c.6269T>G (p.Phe2090Cys) c.6086T>G (p.Phe2029Cys) c.5807T>G (p.Phe1936Cys) c.4850T>G (p.Phe1617Cys) c.4841T>G (p.Phe1614Cys) | |
| 5 | g.37045567T>A | CA359504739 | NIPBL | c.6468T>A (p.Phe2156Leu) c.1-19011T>A (n.1-19011T>A) c.5724T>A (p.Phe1908Leu) c.6270T>A (p.Phe2090Leu) c.6087T>A (p.Phe2029Leu) c.5808T>A (p.Phe1936Leu) c.4851T>A (p.Phe1617Leu) c.4842T>A (p.Phe1614Leu) | |
| 5 | g.37045567T>C | CA443906993 | NIPBL | c.6468T>C (p.Phe2156=) c.1-19011T>C (n.1-19011T>C) c.5724T>C (p.Phe1908=) c.6270T>C (p.Phe2090=) c.6087T>C (p.Phe2029=) c.5808T>C (p.Phe1936=) c.4851T>C (p.Phe1617=) c.4842T>C (p.Phe1614=) | |
| 5 | g.37045567T>G | CA359504741 | NIPBL | c.6468T>G (p.Phe2156Leu) c.1-19011T>G (n.1-19011T>G) c.5724T>G (p.Phe1908Leu) c.6270T>G (p.Phe2090Leu) c.6087T>G (p.Phe2029Leu) c.5808T>G (p.Phe1936Leu) c.4851T>G (p.Phe1617Leu) c.4842T>G (p.Phe1614Leu) | |
| 5 | g.37045568G>A | CA359504743 | NIPBL | c.6469G>A (p.Asp2157Asn) c.1-19010G>A (n.1-19010G>A) c.5725G>A (p.Asp1909Asn) c.6271G>A (p.Asp2091Asn) c.6088G>A (p.Asp2030Asn) c.5809G>A (p.Asp1937Asn) c.4852G>A (p.Asp1618Asn) c.4843G>A (p.Asp1615Asn) | |
| 5 | g.37045568G>C | CA359504744 | NIPBL | c.6469G>C (p.Asp2157His) c.1-19010G>C (n.1-19010G>C) c.5725G>C (p.Asp1909His) c.6271G>C (p.Asp2091His) c.6088G>C (p.Asp2030His) c.5809G>C (p.Asp1937His) c.4852G>C (p.Asp1618His) c.4843G>C (p.Asp1615His) | |
| 5 | g.37045568G>T | CA359504746 | NIPBL | c.6469G>T (p.Asp2157Tyr) c.1-19010G>T (n.1-19010G>T) c.5725G>T (p.Asp1909Tyr) c.6271G>T (p.Asp2091Tyr) c.6088G>T (p.Asp2030Tyr) c.5809G>T (p.Asp1937Tyr) c.4852G>T (p.Asp1618Tyr) c.4843G>T (p.Asp1615Tyr) | |
| 5 | g.37045569A= | CA1539618570 | NIPBL | c.6470A= (p.Asp2157=) c.1-19009A= (n.1-19009A=) c.5726A= (p.Asp1909=) c.6272A= (p.Asp2091=) c.6089A= (p.Asp2030=) c.5810A= (p.Asp1937=) c.4853A= (p.Asp1618=) c.4844A= (p.Asp1615=) | |
| 5 | g.37045569A>C | CA359504750 | NIPBL | c.6470A>C (p.Asp2157Ala) c.1-19009A>C (n.1-19009A>C) c.5726A>C (p.Asp1909Ala) c.6272A>C (p.Asp2091Ala) c.6089A>C (p.Asp2030Ala) c.5810A>C (p.Asp1937Ala) c.4853A>C (p.Asp1618Ala) c.4844A>C (p.Asp1615Ala) | |
| 5 | g.37045569A>G | CA359504751 | NIPBL | c.6470A>G (p.Asp2157Gly) c.1-19009A>G (n.1-19009A>G) c.5726A>G (p.Asp1909Gly) c.6272A>G (p.Asp2091Gly) c.6089A>G (p.Asp2030Gly) c.5810A>G (p.Asp1937Gly) c.4853A>G (p.Asp1618Gly) c.4844A>G (p.Asp1615Gly) | ClinVar dbSNP |
| 5 | g.37045569A>T | CA359504748 | NIPBL | c.6470A>T (p.Asp2157Val) c.1-19009A>T (n.1-19009A>T) c.5726A>T (p.Asp1909Val) c.6272A>T (p.Asp2091Val) c.6089A>T (p.Asp2030Val) c.5810A>T (p.Asp1937Val) c.4853A>T (p.Asp1618Val) c.4844A>T (p.Asp1615Val) | |
| 5 | g.37045570T>A | CA359504752 | NIPBL | c.6471T>A (p.Asp2157Glu) c.1-19008T>A (n.1-19008T>A) c.5727T>A (p.Asp1909Glu) c.6273T>A (p.Asp2091Glu) c.6090T>A (p.Asp2030Glu) c.5811T>A (p.Asp1937Glu) c.4854T>A (p.Asp1618Glu) c.4845T>A (p.Asp1615Glu) | |
| 5 | g.37045570T>C | CA443906994 | NIPBL | c.6471T>C (p.Asp2157=) c.1-19008T>C (n.1-19008T>C) c.5727T>C (p.Asp1909=) c.6273T>C (p.Asp2091=) c.6090T>C (p.Asp2030=) c.5811T>C (p.Asp1937=) c.4854T>C (p.Asp1618=) c.4845T>C (p.Asp1615=) | |
| 5 | g.37045570T>G | CA359504754 | NIPBL | c.6471T>G (p.Asp2157Glu) c.1-19008T>G (n.1-19008T>G) c.5727T>G (p.Asp1909Glu) c.6273T>G (p.Asp2091Glu) c.6090T>G (p.Asp2030Glu) c.5811T>G (p.Asp1937Glu) c.4854T>G (p.Asp1618Glu) c.4845T>G (p.Asp1615Glu) | |
| 5 | g.37045571C>A | CA359504758 | NIPBL | c.6472C>A (p.Leu2158Met) c.1-19007C>A (n.1-19007C>A) c.5728C>A (p.Leu1910Met) c.6274C>A (p.Leu2092Met) c.6091C>A (p.Leu2031Met) c.5812C>A (p.Leu1938Met) c.4855C>A (p.Leu1619Met) c.4846C>A (p.Leu1616Met) | dbSNP gnomAD v4 |
| 5 | g.37045571C= | CA1539618576 | NIPBL | c.6472C= (p.Leu2158=) c.1-19007C= (n.1-19007C=) c.5728C= (p.Leu1910=) c.6274C= (p.Leu2092=) c.6091C= (p.Leu2031=) c.5812C= (p.Leu1938=) c.4855C= (p.Leu1619=) c.4846C= (p.Leu1616=) | |
| 5 | g.37045571C>G | CA117046447 | NIPBL | c.6472C>G (p.Leu2158Val) c.1-19007C>G (n.1-19007C>G) c.5728C>G (p.Leu1910Val) c.6274C>G (p.Leu2092Val) c.6091C>G (p.Leu2031Val) c.5812C>G (p.Leu1938Val) c.4855C>G (p.Leu1619Val) c.4846C>G (p.Leu1616Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37045571C>T | CA443906995 | NIPBL | c.6472C>T (p.Leu2158=) c.1-19007C>T (n.1-19007C>T) c.5728C>T (p.Leu1910=) c.6274C>T (p.Leu2092=) c.6091C>T (p.Leu2031=) c.5812C>T (p.Leu1938=) c.4855C>T (p.Leu1619=) c.4846C>T (p.Leu1616=) | |
| 5 | g.37045572T>A | CA359504772 | NIPBL | c.6473T>A (p.Leu2158Gln) c.1-19006T>A (n.1-19006T>A) c.5729T>A (p.Leu1910Gln) c.6275T>A (p.Leu2092Gln) c.6092T>A (p.Leu2031Gln) c.5813T>A (p.Leu1938Gln) c.4856T>A (p.Leu1619Gln) c.4847T>A (p.Leu1616Gln) | |
| 5 | g.37045572T>C | CA359504773 | NIPBL | c.6473T>C (p.Leu2158Pro) c.1-19006T>C (n.1-19006T>C) c.5729T>C (p.Leu1910Pro) c.6275T>C (p.Leu2092Pro) c.6092T>C (p.Leu2031Pro) c.5813T>C (p.Leu1938Pro) c.4856T>C (p.Leu1619Pro) c.4847T>C (p.Leu1616Pro) | |
| 5 | g.37045572T>G | CA359504776 | NIPBL | c.6473T>G (p.Leu2158Arg) c.1-19006T>G (n.1-19006T>G) c.5729T>G (p.Leu1910Arg) c.6275T>G (p.Leu2092Arg) c.6092T>G (p.Leu2031Arg) c.5813T>G (p.Leu1938Arg) c.4856T>G (p.Leu1619Arg) c.4847T>G (p.Leu1616Arg) | |
| 5 | g.37045573G>A | CA443906998 | NIPBL | c.6474G>A (p.Leu2158=) c.1-19005G>A (n.1-19005G>A) c.5730G>A (p.Leu1910=) c.6276G>A (p.Leu2092=) c.6093G>A (p.Leu2031=) c.5814G>A (p.Leu1938=) c.4857G>A (p.Leu1619=) c.4848G>A (p.Leu1616=) | |
| 5 | g.37045573G>C | CA443906996 | NIPBL | c.6474G>C (p.Leu2158=) c.1-19005G>C (n.1-19005G>C) c.5730G>C (p.Leu1910=) c.6276G>C (p.Leu2092=) c.6093G>C (p.Leu2031=) c.5814G>C (p.Leu1938=) c.4857G>C (p.Leu1619=) c.4848G>C (p.Leu1616=) | |
| 5 | g.37045573G>T | CA443906997 | NIPBL | c.6474G>T (p.Leu2158=) c.1-19005G>T (n.1-19005G>T) c.5730G>T (p.Leu1910=) c.6276G>T (p.Leu2092=) c.6093G>T (p.Leu2031=) c.5814G>T (p.Leu1938=) c.4857G>T (p.Leu1619=) c.4848G>T (p.Leu1616=) | |
| 5 | g.37045574G>A | CA359504780 | NIPBL | c.6475G>A (p.Glu2159Lys) c.1-19004G>A (n.1-19004G>A) c.5731G>A (p.Glu1911Lys) c.6277G>A (p.Glu2093Lys) c.6094G>A (p.Glu2032Lys) c.5815G>A (p.Glu1939Lys) c.4858G>A (p.Glu1620Lys) c.4849G>A (p.Glu1617Lys) | |
| 5 | g.37045574G>C | CA359504782 | NIPBL | c.6475G>C (p.Glu2159Gln) c.1-19004G>C (n.1-19004G>C) c.5731G>C (p.Glu1911Gln) c.6277G>C (p.Glu2093Gln) c.6094G>C (p.Glu2032Gln) c.5815G>C (p.Glu1939Gln) c.4858G>C (p.Glu1620Gln) c.4849G>C (p.Glu1617Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37045574G= | CA1539618580 | NIPBL | c.6475G= (p.Glu2159=) c.1-19004G= (n.1-19004G=) c.5731G= (p.Glu1911=) c.6277G= (p.Glu2093=) c.6094G= (p.Glu2032=) c.5815G= (p.Glu1939=) c.4858G= (p.Glu1620=) c.4849G= (p.Glu1617=) | |
| 5 | g.37045574G>T | CA359504785 | NIPBL | c.6475G>T (p.Glu2159Ter) c.1-19004G>T (n.1-19004G>T) c.5731G>T (p.Glu1911Ter) c.6277G>T (p.Glu2093Ter) c.6094G>T (p.Glu2032Ter) c.5815G>T (p.Glu1939Ter) c.4858G>T (p.Glu1620Ter) c.4849G>T (p.Glu1617Ter) | |
| 5 | g.37045574_37045575insCACCT | CA443906999 | NIPBL | c.6475_6476insCACCT (p.Glu2159AlafsTer13) c.1-19004_1-19003insCACCT (n.1-19004_1-19003insCACCT) c.5731_5732insCACCT (p.Glu1911AlafsTer13) c.6277_6278insCACCT (p.Glu2093AlafsTer13) c.6094_6095insCACCT (p.Glu2032AlafsTer13) c.5815_5816insCACCT (p.Glu1939AlafsTer13) c.4858_4859insCACCT (p.Glu1620AlafsTer13) c.4849_4850insCACCT (p.Glu1617AlafsTer13) | dbSNP |
| 5 | g.37045575A= | CA1539618584 | NIPBL | c.6476A= (p.Glu2159=) c.1-19003A= (n.1-19003A=) c.5732A= (p.Glu1911=) c.6278A= (p.Glu2093=) c.6095A= (p.Glu2032=) c.5816A= (p.Glu1939=) c.4859A= (p.Glu1620=) c.4850A= (p.Glu1617=) | |
| 5 | g.37045575A>C | CA359504788 | NIPBL | c.6476A>C (p.Glu2159Ala) c.1-19003A>C (n.1-19003A>C) c.5732A>C (p.Glu1911Ala) c.6278A>C (p.Glu2093Ala) c.6095A>C (p.Glu2032Ala) c.5816A>C (p.Glu1939Ala) c.4859A>C (p.Glu1620Ala) c.4850A>C (p.Glu1617Ala) | |
| 5 | g.37045575A>G | CA359504791 | NIPBL | c.6476A>G (p.Glu2159Gly) c.1-19003A>G (n.1-19003A>G) c.5732A>G (p.Glu1911Gly) c.6278A>G (p.Glu2093Gly) c.6095A>G (p.Glu2032Gly) c.5816A>G (p.Glu1939Gly) c.4859A>G (p.Glu1620Gly) c.4850A>G (p.Glu1617Gly) | |
| 5 | g.37045575A>T | CA359504799 | NIPBL | c.6476A>T (p.Glu2159Val) c.1-19003A>T (n.1-19003A>T) c.5732A>T (p.Glu1911Val) c.6278A>T (p.Glu2093Val) c.6095A>T (p.Glu2032Val) c.5816A>T (p.Glu1939Val) c.4859A>T (p.Glu1620Val) c.4850A>T (p.Glu1617Val) | dbSNP gnomAD v4 |
| 5 | g.37045576A= | CA1539618588 | NIPBL | c.6477A= (p.Glu2159=) c.1-19002A= (n.1-19002A=) c.5733A= (p.Glu1911=) c.6279A= (p.Glu2093=) c.6096A= (p.Glu2032=) c.5817A= (p.Glu1939=) c.4860A= (p.Glu1620=) c.4851A= (p.Glu1617=) | |
| 5 | g.37045576A>C | CA359504802 | NIPBL | c.6477A>C (p.Glu2159Asp) c.1-19002A>C (n.1-19002A>C) c.5733A>C (p.Glu1911Asp) c.6279A>C (p.Glu2093Asp) c.6096A>C (p.Glu2032Asp) c.5817A>C (p.Glu1939Asp) c.4860A>C (p.Glu1620Asp) c.4851A>C (p.Glu1617Asp) | |
| 5 | g.37045576A>G | CA443907000 | NIPBL | c.6477A>G (p.Glu2159=) c.1-19002A>G (n.1-19002A>G) c.5733A>G (p.Glu1911=) c.6279A>G (p.Glu2093=) c.6096A>G (p.Glu2032=) c.5817A>G (p.Glu1939=) c.4860A>G (p.Glu1620=) c.4851A>G (p.Glu1617=) | dbSNP |
| 5 | g.37045576A>T | CA359504809 | NIPBL | c.6477A>T (p.Glu2159Asp) c.1-19002A>T (n.1-19002A>T) c.5733A>T (p.Glu1911Asp) c.6279A>T (p.Glu2093Asp) c.6096A>T (p.Glu2032Asp) c.5817A>T (p.Glu1939Asp) c.4860A>T (p.Glu1620Asp) c.4851A>T (p.Glu1617Asp) | |
| 5 | g.37045577G>A | CA359504813 | NIPBL | c.6478G>A (p.Asp2160Asn) c.1-19001G>A (n.1-19001G>A) c.5734G>A (p.Asp1912Asn) c.6280G>A (p.Asp2094Asn) c.6097G>A (p.Asp2033Asn) c.5818G>A (p.Asp1940Asn) c.4861G>A (p.Asp1621Asn) c.4852G>A (p.Asp1618Asn) | |
| 5 | g.37045577G>C | CA359504824 | NIPBL | c.6478G>C (p.Asp2160His) c.1-19001G>C (n.1-19001G>C) c.5734G>C (p.Asp1912His) c.6280G>C (p.Asp2094His) c.6097G>C (p.Asp2033His) c.5818G>C (p.Asp1940His) c.4861G>C (p.Asp1621His) c.4852G>C (p.Asp1618His) | |
| 5 | g.37045577G= | CA1539618591 | NIPBL | c.6478G= (p.Asp2160=) c.1-19001G= (n.1-19001G=) c.5734G= (p.Asp1912=) c.6280G= (p.Asp2094=) c.6097G= (p.Asp2033=) c.5818G= (p.Asp1940=) c.4861G= (p.Asp1621=) c.4852G= (p.Asp1618=) | |
| 5 | g.37045577G>T | CA272230 | NIPBL | c.6478G>T (p.Asp2160Tyr) c.1-19001G>T (n.1-19001G>T) c.5734G>T (p.Asp1912Tyr) c.6280G>T (p.Asp2094Tyr) c.6097G>T (p.Asp2033Tyr) c.5818G>T (p.Asp1940Tyr) c.4861G>T (p.Asp1621Tyr) c.4852G>T (p.Asp1618Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37045578A>C | CA359504825 | NIPBL | c.6479A>C (p.Asp2160Ala) c.1-19000A>C (n.1-19000A>C) c.5735A>C (p.Asp1912Ala) c.6281A>C (p.Asp2094Ala) c.6098A>C (p.Asp2033Ala) c.5819A>C (p.Asp1940Ala) c.4862A>C (p.Asp1621Ala) c.4853A>C (p.Asp1618Ala) | |
| 5 | g.37045578A>G | CA359504826 | NIPBL | c.6479A>G (p.Asp2160Gly) c.1-19000A>G (n.1-19000A>G) c.5735A>G (p.Asp1912Gly) c.6281A>G (p.Asp2094Gly) c.6098A>G (p.Asp2033Gly) c.5819A>G (p.Asp1940Gly) c.4862A>G (p.Asp1621Gly) c.4853A>G (p.Asp1618Gly) | |
| 5 | g.37045578A>T | CA359504827 | NIPBL | c.6479A>T (p.Asp2160Val) c.1-19000A>T (n.1-19000A>T) c.5735A>T (p.Asp1912Val) c.6281A>T (p.Asp2094Val) c.6098A>T (p.Asp2033Val) c.5819A>T (p.Asp1940Val) c.4862A>T (p.Asp1621Val) c.4853A>T (p.Asp1618Val) | |
| 5 | g.37045579T>A | CA359504830 | NIPBL | c.6480T>A (p.Asp2160Glu) c.1-18999T>A (n.1-18999T>A) c.5736T>A (p.Asp1912Glu) c.6282T>A (p.Asp2094Glu) c.6099T>A (p.Asp2033Glu) c.5820T>A (p.Asp1940Glu) c.4863T>A (p.Asp1621Glu) c.4854T>A (p.Asp1618Glu) | |
| 5 | g.37045579T>C | CA443907001 | NIPBL | c.6480T>C (p.Asp2160=) c.1-18999T>C (n.1-18999T>C) c.5736T>C (p.Asp1912=) c.6282T>C (p.Asp2094=) c.6099T>C (p.Asp2033=) c.5820T>C (p.Asp1940=) c.4863T>C (p.Asp1621=) c.4854T>C (p.Asp1618=) | dbSNP gnomAD v4 |
| 5 | g.37045579T>G | CA359504833 | NIPBL | c.6480T>G (p.Asp2160Glu) c.1-18999T>G (n.1-18999T>G) c.5736T>G (p.Asp1912Glu) c.6282T>G (p.Asp2094Glu) c.6099T>G (p.Asp2033Glu) c.5820T>G (p.Asp1940Glu) c.4863T>G (p.Asp1621Glu) c.4854T>G (p.Asp1618Glu) | COSMIC COSMIC |
| 5 | g.37045579T= | CA1539618600 | NIPBL | c.6480T= (p.Asp2160=) c.1-18999T= (n.1-18999T=) c.5736T= (p.Asp1912=) c.6282T= (p.Asp2094=) c.6099T= (p.Asp2033=) c.5820T= (p.Asp1940=) c.4863T= (p.Asp1621=) c.4854T= (p.Asp1618=) | |
| 5 | g.37045580T>A | CA359504835 | NIPBL | c.6481T>A (p.Phe2161Ile) c.1-18998T>A (n.1-18998T>A) c.5737T>A (p.Phe1913Ile) c.6283T>A (p.Phe2095Ile) c.6100T>A (p.Phe2034Ile) c.5821T>A (p.Phe1941Ile) c.4864T>A (p.Phe1622Ile) c.4855T>A (p.Phe1619Ile) | |
| 5 | g.37045580T>C | CA359504845 | NIPBL | c.6481T>C (p.Phe2161Leu) c.1-18998T>C (n.1-18998T>C) c.5737T>C (p.Phe1913Leu) c.6283T>C (p.Phe2095Leu) c.6100T>C (p.Phe2034Leu) c.5821T>C (p.Phe1941Leu) c.4864T>C (p.Phe1622Leu) c.4855T>C (p.Phe1619Leu) | |
| 5 | g.37045580T>G | CA359504847 | NIPBL | c.6481T>G (p.Phe2161Val) c.1-18998T>G (n.1-18998T>G) c.5737T>G (p.Phe1913Val) c.6283T>G (p.Phe2095Val) c.6100T>G (p.Phe2034Val) c.5821T>G (p.Phe1941Val) c.4864T>G (p.Phe1622Val) c.4855T>G (p.Phe1619Val) | |
| 5 | g.37045581T>A | CA359504862 | NIPBL | c.6482T>A (p.Phe2161Tyr) c.1-18997T>A (n.1-18997T>A) c.5738T>A (p.Phe1913Tyr) c.6284T>A (p.Phe2095Tyr) c.6101T>A (p.Phe2034Tyr) c.5822T>A (p.Phe1941Tyr) c.4865T>A (p.Phe1622Tyr) c.4856T>A (p.Phe1619Tyr) | |
| 5 | g.37045581T>C | CA359504877 | NIPBL | c.6482T>C (p.Phe2161Ser) c.1-18997T>C (n.1-18997T>C) c.5738T>C (p.Phe1913Ser) c.6284T>C (p.Phe2095Ser) c.6101T>C (p.Phe2034Ser) c.5822T>C (p.Phe1941Ser) c.4865T>C (p.Phe1622Ser) c.4856T>C (p.Phe1619Ser) | |
| 5 | g.37045581T>G | CA359504851 | NIPBL | c.6482T>G (p.Phe2161Cys) c.1-18997T>G (n.1-18997T>G) c.5738T>G (p.Phe1913Cys) c.6284T>G (p.Phe2095Cys) c.6101T>G (p.Phe2034Cys) c.5822T>G (p.Phe1941Cys) c.4865T>G (p.Phe1622Cys) c.4856T>G (p.Phe1619Cys) | |
| 5 | g.37045582T>A | CA359504882 | NIPBL | c.6483T>A (p.Phe2161Leu) c.1-18996T>A (n.1-18996T>A) c.5739T>A (p.Phe1913Leu) c.6285T>A (p.Phe2095Leu) c.6102T>A (p.Phe2034Leu) c.5823T>A (p.Phe1941Leu) c.4866T>A (p.Phe1622Leu) c.4857T>A (p.Phe1619Leu) | |
| 5 | g.37045582T>C | CA443907002 | NIPBL | c.6483T>C (p.Phe2161=) c.1-18996T>C (n.1-18996T>C) c.5739T>C (p.Phe1913=) c.6285T>C (p.Phe2095=) c.6102T>C (p.Phe2034=) c.5823T>C (p.Phe1941=) c.4866T>C (p.Phe1622=) c.4857T>C (p.Phe1619=) | |
| 5 | g.37045582T>G | CA359504880 | NIPBL | c.6483T>G (p.Phe2161Leu) c.1-18996T>G (n.1-18996T>G) c.5739T>G (p.Phe1913Leu) c.6285T>G (p.Phe2095Leu) c.6102T>G (p.Phe2034Leu) c.5823T>G (p.Phe1941Leu) c.4866T>G (p.Phe1622Leu) c.4857T>G (p.Phe1619Leu) | |
| 5 | g.37045583A>C | CA359504884 | NIPBL | c.6484A>C (p.Lys2162Gln) c.1-18995A>C (n.1-18995A>C) c.5740A>C (p.Lys1914Gln) c.6286A>C (p.Lys2096Gln) c.6103A>C (p.Lys2035Gln) c.5824A>C (p.Lys1942Gln) c.4867A>C (p.Lys1623Gln) c.4858A>C (p.Lys1620Gln) | |
| 5 | g.37045583A>G | CA359504886 | NIPBL | c.6484A>G (p.Lys2162Glu) c.1-18995A>G (n.1-18995A>G) c.5740A>G (p.Lys1914Glu) c.6286A>G (p.Lys2096Glu) c.6103A>G (p.Lys2035Glu) c.5824A>G (p.Lys1942Glu) c.4867A>G (p.Lys1623Glu) c.4858A>G (p.Lys1620Glu) | |
| 5 | g.37045583A>T | CA359504889 | NIPBL | c.6484A>T (p.Lys2162Ter) c.1-18995A>T (n.1-18995A>T) c.5740A>T (p.Lys1914Ter) c.6286A>T (p.Lys2096Ter) c.6103A>T (p.Lys2035Ter) c.5824A>T (p.Lys1942Ter) c.4867A>T (p.Lys1623Ter) c.4858A>T (p.Lys1620Ter) | |
| 5 | g.37045584A>C | CA359504892 | NIPBL | c.6485A>C (p.Lys2162Thr) c.1-18994A>C (n.1-18994A>C) c.5741A>C (p.Lys1914Thr) c.6287A>C (p.Lys2096Thr) c.6104A>C (p.Lys2035Thr) c.5825A>C (p.Lys1942Thr) c.4868A>C (p.Lys1623Thr) c.4859A>C (p.Lys1620Thr) | |
| 5 | g.37045584A>G | CA359504896 | NIPBL | c.6485A>G (p.Lys2162Arg) c.1-18994A>G (n.1-18994A>G) c.5741A>G (p.Lys1914Arg) c.6287A>G (p.Lys2096Arg) c.6104A>G (p.Lys2035Arg) c.5825A>G (p.Lys1942Arg) c.4868A>G (p.Lys1623Arg) c.4859A>G (p.Lys1620Arg) | |
| 5 | g.37045584A>T | CA359504904 | NIPBL | c.6485A>T (p.Lys2162Ile) c.1-18994A>T (n.1-18994A>T) c.5741A>T (p.Lys1914Ile) c.6287A>T (p.Lys2096Ile) c.6104A>T (p.Lys2035Ile) c.5825A>T (p.Lys1942Ile) c.4868A>T (p.Lys1623Ile) c.4859A>T (p.Lys1620Ile) | |
| 5 | g.37045585A= | CA1539618605 | NIPBL | c.6486A= (p.Lys2162=) c.1-18993A= (n.1-18993A=) c.5742A= (p.Lys1914=) c.6288A= (p.Lys2096=) c.6105A= (p.Lys2035=) c.5826A= (p.Lys1942=) c.4869A= (p.Lys1623=) c.4860A= (p.Lys1620=) | |
| 5 | g.37045585A>C | CA359504910 | NIPBL | c.6486A>C (p.Lys2162Asn) c.1-18993A>C (n.1-18993A>C) c.5742A>C (p.Lys1914Asn) c.6288A>C (p.Lys2096Asn) c.6105A>C (p.Lys2035Asn) c.5826A>C (p.Lys1942Asn) c.4869A>C (p.Lys1623Asn) c.4860A>C (p.Lys1620Asn) | |
| 5 | g.37045585A>G | CA443907003 | NIPBL | c.6486A>G (p.Lys2162=) c.1-18993A>G (n.1-18993A>G) c.5742A>G (p.Lys1914=) c.6288A>G (p.Lys2096=) c.6105A>G (p.Lys2035=) c.5826A>G (p.Lys1942=) c.4869A>G (p.Lys1623=) c.4860A>G (p.Lys1620=) | |
| 5 | g.37045585A>T | CA359504920 | NIPBL | c.6486A>T (p.Lys2162Asn) c.1-18993A>T (n.1-18993A>T) c.5742A>T (p.Lys1914Asn) c.6288A>T (p.Lys2096Asn) c.6105A>T (p.Lys2035Asn) c.5826A>T (p.Lys1942Asn) c.4869A>T (p.Lys1623Asn) c.4860A>T (p.Lys1620Asn) | dbSNP gnomAD v2 |
| 5 | g.37045586G>A | CA359504926 | NIPBL | c.6487G>A (p.Gly2163Ser) c.1-18992G>A (n.1-18992G>A) c.5743G>A (p.Gly1915Ser) c.6289G>A (p.Gly2097Ser) c.6106G>A (p.Gly2036Ser) c.5827G>A (p.Gly1943Ser) c.4870G>A (p.Gly1624Ser) c.4861G>A (p.Gly1621Ser) | |
| 5 | g.37045586G>C | CA359504929 | NIPBL | c.6487G>C (p.Gly2163Arg) c.1-18992G>C (n.1-18992G>C) c.5743G>C (p.Gly1915Arg) c.6289G>C (p.Gly2097Arg) c.6106G>C (p.Gly2036Arg) c.5827G>C (p.Gly1943Arg) c.4870G>C (p.Gly1624Arg) c.4861G>C (p.Gly1621Arg) | |
| 5 | g.37045586G>T | CA359504930 | NIPBL | c.6487G>T (p.Gly2163Cys) c.1-18992G>T (n.1-18992G>T) c.5743G>T (p.Gly1915Cys) c.6289G>T (p.Gly2097Cys) c.6106G>T (p.Gly2036Cys) c.5827G>T (p.Gly1943Cys) c.4870G>T (p.Gly1624Cys) c.4861G>T (p.Gly1621Cys) | |
| 5 | g.37045587G>A | CA359504934 | NIPBL | c.6488G>A (p.Gly2163Asp) c.1-18991G>A (n.1-18991G>A) c.5744G>A (p.Gly1915Asp) c.6290G>A (p.Gly2097Asp) c.6107G>A (p.Gly2036Asp) c.5828G>A (p.Gly1943Asp) c.4871G>A (p.Gly1624Asp) c.4862G>A (p.Gly1621Asp) | |
| 5 | g.37045587G>C | CA359504937 | NIPBL | c.6488G>C (p.Gly2163Ala) c.1-18991G>C (n.1-18991G>C) c.5744G>C (p.Gly1915Ala) c.6290G>C (p.Gly2097Ala) c.6107G>C (p.Gly2036Ala) c.5828G>C (p.Gly1943Ala) c.4871G>C (p.Gly1624Ala) c.4862G>C (p.Gly1621Ala) | |
| 5 | g.37045587G>T | CA359504931 | NIPBL | c.6488G>T (p.Gly2163Val) c.1-18991G>T (n.1-18991G>T) c.5744G>T (p.Gly1915Val) c.6290G>T (p.Gly2097Val) c.6107G>T (p.Gly2036Val) c.5828G>T (p.Gly1943Val) c.4871G>T (p.Gly1624Val) c.4862G>T (p.Gly1621Val) | |
| 5 | g.37045588C>A | CA443907006 | NIPBL | c.6489C>A (p.Gly2163=) c.1-18990C>A (n.1-18990C>A) c.5745C>A (p.Gly1915=) c.6291C>A (p.Gly2097=) c.6108C>A (p.Gly2036=) c.5829C>A (p.Gly1943=) c.4872C>A (p.Gly1624=) c.4863C>A (p.Gly1621=) | |
| 5 | g.37045588C>G | CA443907005 | NIPBL | c.6489C>G (p.Gly2163=) c.1-18990C>G (n.1-18990C>G) c.5745C>G (p.Gly1915=) c.6291C>G (p.Gly2097=) c.6108C>G (p.Gly2036=) c.5829C>G (p.Gly1943=) c.4872C>G (p.Gly1624=) c.4863C>G (p.Gly1621=) | |
| 5 | g.37045588C>T | CA443907004 | NIPBL | c.6489C>T (p.Gly2163=) c.1-18990C>T (n.1-18990C>T) c.5745C>T (p.Gly1915=) c.6291C>T (p.Gly2097=) c.6108C>T (p.Gly2036=) c.5829C>T (p.Gly1943=) c.4872C>T (p.Gly1624=) c.4863C>T (p.Gly1621=) | |
| 5 | g.37045589A>C | CA359504942 | NIPBL | c.6490A>C (p.Asn2164His) c.1-18989A>C (n.1-18989A>C) c.5746A>C (p.Asn1916His) c.6292A>C (p.Asn2098His) c.6109A>C (p.Asn2037His) c.5830A>C (p.Asn1944His) c.4873A>C (p.Asn1625His) c.4864A>C (p.Asn1622His) | |
| 5 | g.37045589A>G | CA359504944 | NIPBL | c.6490A>G (p.Asn2164Asp) c.1-18989A>G (n.1-18989A>G) c.5746A>G (p.Asn1916Asp) c.6292A>G (p.Asn2098Asp) c.6109A>G (p.Asn2037Asp) c.5830A>G (p.Asn1944Asp) c.4873A>G (p.Asn1625Asp) c.4864A>G (p.Asn1622Asp) | |
| 5 | g.37045589A>T | CA359504945 | NIPBL | c.6490A>T (p.Asn2164Tyr) c.1-18989A>T (n.1-18989A>T) c.5746A>T (p.Asn1916Tyr) c.6292A>T (p.Asn2098Tyr) c.6109A>T (p.Asn2037Tyr) c.5830A>T (p.Asn1944Tyr) c.4873A>T (p.Asn1625Tyr) c.4864A>T (p.Asn1622Tyr) | |
| 5 | g.37045589_37045590insCCT | CA2534951874 | NIPBL | c.6490_6491insCCT (p.Asn2164delinsThrTyr) c.1-18989_1-18988insCCT (n.1-18989_1-18988insCCT) c.5746_5747insCCT (p.Asn1916delinsThrTyr) c.6292_6293insCCT (p.Asn2098delinsThrTyr) c.6109_6110insCCT (p.Asn2037delinsThrTyr) c.5830_5831insCCT (p.Asn1944delinsThrTyr) c.4873_4874insCCT (p.Asn1625delinsThrTyr) c.4864_4865insCCT (p.Asn1622delinsThrTyr) | |
| 5 | g.37045590A= | CA1539618607 | NIPBL | c.6491A= (p.Asn2164=) c.1-18988A= (n.1-18988A=) c.5747A= (p.Asn1916=) c.6293A= (p.Asn2098=) c.6110A= (p.Asn2037=) c.5831A= (p.Asn1944=) c.4874A= (p.Asn1625=) c.4865A= (p.Asn1622=) | |
| 5 | g.37045590A>C | CA359504950 | NIPBL | c.6491A>C (p.Asn2164Thr) c.1-18988A>C (n.1-18988A>C) c.5747A>C (p.Asn1916Thr) c.6293A>C (p.Asn2098Thr) c.6110A>C (p.Asn2037Thr) c.5831A>C (p.Asn1944Thr) c.4874A>C (p.Asn1625Thr) c.4865A>C (p.Asn1622Thr) | dbSNP gnomAD v2 |
| 5 | g.37045590A>G | CA359504956 | NIPBL | c.6491A>G (p.Asn2164Ser) c.1-18988A>G (n.1-18988A>G) c.5747A>G (p.Asn1916Ser) c.6293A>G (p.Asn2098Ser) c.6110A>G (p.Asn2037Ser) c.5831A>G (p.Asn1944Ser) c.4874A>G (p.Asn1625Ser) c.4865A>G (p.Asn1622Ser) | |
| 5 | g.37045590A>T | CA359504972 | NIPBL | c.6491A>T (p.Asn2164Ile) c.1-18988A>T (n.1-18988A>T) c.5747A>T (p.Asn1916Ile) c.6293A>T (p.Asn2098Ile) c.6110A>T (p.Asn2037Ile) c.5831A>T (p.Asn1944Ile) c.4874A>T (p.Asn1625Ile) c.4865A>T (p.Asn1622Ile) | |
| 5 | g.37045591C>A | CA359504974 | NIPBL | c.6492C>A (p.Asn2164Lys) c.1-18987C>A (n.1-18987C>A) c.5748C>A (p.Asn1916Lys) c.6294C>A (p.Asn2098Lys) c.6111C>A (p.Asn2037Lys) c.5832C>A (p.Asn1944Lys) c.4875C>A (p.Asn1625Lys) c.4866C>A (p.Asn1622Lys) | |
| 5 | g.37045591C= | CA1539618609 | NIPBL | c.6492C= (p.Asn2164=) c.1-18987C= (n.1-18987C=) c.5748C= (p.Asn1916=) c.6294C= (p.Asn2098=) c.6111C= (p.Asn2037=) c.5832C= (p.Asn1944=) c.4875C= (p.Asn1625=) c.4866C= (p.Asn1622=) | |
| 5 | g.37045591C>G | CA359504977 | NIPBL | c.6492C>G (p.Asn2164Lys) c.1-18987C>G (n.1-18987C>G) c.5748C>G (p.Asn1916Lys) c.6294C>G (p.Asn2098Lys) c.6111C>G (p.Asn2037Lys) c.5832C>G (p.Asn1944Lys) c.4875C>G (p.Asn1625Lys) c.4866C>G (p.Asn1622Lys) | |
| 5 | g.37045591C>T | CA443907007 | NIPBL | c.6492C>T (p.Asn2164=) c.1-18987C>T (n.1-18987C>T) c.5748C>T (p.Asn1916=) c.6294C>T (p.Asn2098=) c.6111C>T (p.Asn2037=) c.5832C>T (p.Asn1944=) c.4875C>T (p.Asn1625=) c.4866C>T (p.Asn1622=) | dbSNP gnomAD v4 |
| 5 | g.37045592A>C | CA359504989 | NIPBL | c.6493A>C (p.Ser2165Arg) c.1-18986A>C (n.1-18986A>C) c.5749A>C (p.Ser1917Arg) c.6295A>C (p.Ser2099Arg) c.6112A>C (p.Ser2038Arg) c.5833A>C (p.Ser1945Arg) c.4876A>C (p.Ser1626Arg) c.4867A>C (p.Ser1623Arg) | |
| 5 | g.37045592A>G | CA359505004 | NIPBL | c.6493A>G (p.Ser2165Gly) c.1-18986A>G (n.1-18986A>G) c.5749A>G (p.Ser1917Gly) c.6295A>G (p.Ser2099Gly) c.6112A>G (p.Ser2038Gly) c.5833A>G (p.Ser1945Gly) c.4876A>G (p.Ser1626Gly) c.4867A>G (p.Ser1623Gly) | gnomAD v4 |
| 5 | g.37045592A>T | CA359505011 | NIPBL | c.6493A>T (p.Ser2165Cys) c.1-18986A>T (n.1-18986A>T) c.5749A>T (p.Ser1917Cys) c.6295A>T (p.Ser2099Cys) c.6112A>T (p.Ser2038Cys) c.5833A>T (p.Ser1945Cys) c.4876A>T (p.Ser1626Cys) c.4867A>T (p.Ser1623Cys) | |
| 5 | g.37045593G>A | CA359505016 | NIPBL | c.6494G>A (p.Ser2165Asn) c.1-18985G>A (n.1-18985G>A) c.5750G>A (p.Ser1917Asn) c.6296G>A (p.Ser2099Asn) c.6113G>A (p.Ser2038Asn) c.5834G>A (p.Ser1945Asn) c.4877G>A (p.Ser1626Asn) c.4868G>A (p.Ser1623Asn) | COSMIC COSMIC |
| 5 | g.37045593G>C | CA359505035 | NIPBL | c.6494G>C (p.Ser2165Thr) c.1-18985G>C (n.1-18985G>C) c.5750G>C (p.Ser1917Thr) c.6296G>C (p.Ser2099Thr) c.6113G>C (p.Ser2038Thr) c.5834G>C (p.Ser1945Thr) c.4877G>C (p.Ser1626Thr) c.4868G>C (p.Ser1623Thr) | |
| 5 | g.37045593G= | CA1539618612 | NIPBL | c.6494G= (p.Ser2165=) c.1-18985G= (n.1-18985G=) c.5750G= (p.Ser1917=) c.6296G= (p.Ser2099=) c.6113G= (p.Ser2038=) c.5834G= (p.Ser1945=) c.4877G= (p.Ser1626=) c.4868G= (p.Ser1623=) | |
| 5 | g.37045593G>T | CA359505048 | NIPBL | c.6494G>T (p.Ser2165Ile) c.1-18985G>T (n.1-18985G>T) c.5750G>T (p.Ser1917Ile) c.6296G>T (p.Ser2099Ile) c.6113G>T (p.Ser2038Ile) c.5834G>T (p.Ser1945Ile) c.4877G>T (p.Ser1626Ile) c.4868G>T (p.Ser1623Ile) | dbSNP gnomAD v3 gnomAD v4 |