| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37038616G>A | CA359497888 | NIPBL | c.5986G>A (p.Gly1996Ser) c.1-25962G>A (n.1-25962G>A) c.5242G>A (p.Gly1748Ser) c.5788G>A (p.Gly1930Ser) c.5605G>A (p.Gly1869Ser) c.5326G>A (p.Gly1776Ser) c.4369G>A (p.Gly1457Ser) c.4360G>A (p.Gly1454Ser) | |
| 5 | g.37038616G>C | CA359497889 | NIPBL | c.5986G>C (p.Gly1996Arg) c.1-25962G>C (n.1-25962G>C) c.5242G>C (p.Gly1748Arg) c.5788G>C (p.Gly1930Arg) c.5605G>C (p.Gly1869Arg) c.5326G>C (p.Gly1776Arg) c.4369G>C (p.Gly1457Arg) c.4360G>C (p.Gly1454Arg) | |
| 5 | g.37038616G>T | CA359497900 | NIPBL | c.5986G>T (p.Gly1996Cys) c.1-25962G>T (n.1-25962G>T) c.5242G>T (p.Gly1748Cys) c.5788G>T (p.Gly1930Cys) c.5605G>T (p.Gly1869Cys) c.5326G>T (p.Gly1776Cys) c.4369G>T (p.Gly1457Cys) c.4360G>T (p.Gly1454Cys) | |
| 5 | g.37038617G>A | CA359497901 | NIPBL | c.5987G>A (p.Gly1996Asp) c.1-25961G>A (n.1-25961G>A) c.5243G>A (p.Gly1748Asp) c.5789G>A (p.Gly1930Asp) c.5606G>A (p.Gly1869Asp) c.5327G>A (p.Gly1776Asp) c.4370G>A (p.Gly1457Asp) c.4361G>A (p.Gly1454Asp) | |
| 5 | g.37038617G>C | CA359497902 | NIPBL | c.5987G>C (p.Gly1996Ala) c.1-25961G>C (n.1-25961G>C) c.5243G>C (p.Gly1748Ala) c.5789G>C (p.Gly1930Ala) c.5606G>C (p.Gly1869Ala) c.5327G>C (p.Gly1776Ala) c.4370G>C (p.Gly1457Ala) c.4361G>C (p.Gly1454Ala) | |
| 5 | g.37038617G>T | CA359497903 | NIPBL | c.5987G>T (p.Gly1996Val) c.1-25961G>T (n.1-25961G>T) c.5243G>T (p.Gly1748Val) c.5789G>T (p.Gly1930Val) c.5606G>T (p.Gly1869Val) c.5327G>T (p.Gly1776Val) c.4370G>T (p.Gly1457Val) c.4361G>T (p.Gly1454Val) | |
| 5 | g.37038618T>A | CA443905783 | NIPBL | c.5988T>A (p.Gly1996=) c.1-25960T>A (n.1-25960T>A) c.5244T>A (p.Gly1748=) c.5790T>A (p.Gly1930=) c.5607T>A (p.Gly1869=) c.5328T>A (p.Gly1776=) c.4371T>A (p.Gly1457=) c.4362T>A (p.Gly1454=) | |
| 5 | g.37038618T>C | CA443905784 | NIPBL | c.5988T>C (p.Gly1996=) c.1-25960T>C (n.1-25960T>C) c.5244T>C (p.Gly1748=) c.5790T>C (p.Gly1930=) c.5607T>C (p.Gly1869=) c.5328T>C (p.Gly1776=) c.4371T>C (p.Gly1457=) c.4362T>C (p.Gly1454=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038618T>G | CA443905785 | NIPBL | c.5988T>G (p.Gly1996=) c.1-25960T>G (n.1-25960T>G) c.5244T>G (p.Gly1748=) c.5790T>G (p.Gly1930=) c.5607T>G (p.Gly1869=) c.5328T>G (p.Gly1776=) c.4371T>G (p.Gly1457=) c.4362T>G (p.Gly1454=) | |
| 5 | g.37038618T= | CA1539611472 | NIPBL | c.5988T= (p.Gly1996=) c.1-25960T= (n.1-25960T=) c.5244T= (p.Gly1748=) c.5790T= (p.Gly1930=) c.5607T= (p.Gly1869=) c.5328T= (p.Gly1776=) c.4371T= (p.Gly1457=) c.4362T= (p.Gly1454=) | |
| 5 | g.37038619G>A | CA359497907 | NIPBL | c.5989G>A (p.Val1997Met) c.1-25959G>A (n.1-25959G>A) c.5245G>A (p.Val1749Met) c.5791G>A (p.Val1931Met) c.5608G>A (p.Val1870Met) c.5329G>A (p.Val1777Met) c.4372G>A (p.Val1458Met) c.4363G>A (p.Val1455Met) | |
| 5 | g.37038619G>C | CA359497905 | NIPBL | c.5989G>C (p.Val1997Leu) c.1-25959G>C (n.1-25959G>C) c.5245G>C (p.Val1749Leu) c.5791G>C (p.Val1931Leu) c.5608G>C (p.Val1870Leu) c.5329G>C (p.Val1777Leu) c.4372G>C (p.Val1458Leu) c.4363G>C (p.Val1455Leu) | |
| 5 | g.37038619G>T | CA359497904 | NIPBL | c.5989G>T (p.Val1997Leu) c.1-25959G>T (n.1-25959G>T) c.5245G>T (p.Val1749Leu) c.5791G>T (p.Val1931Leu) c.5608G>T (p.Val1870Leu) c.5329G>T (p.Val1777Leu) c.4372G>T (p.Val1458Leu) c.4363G>T (p.Val1455Leu) | |
| 5 | g.37038620T>A | CA359497909 | NIPBL | c.5990T>A (p.Val1997Glu) c.1-25958T>A (n.1-25958T>A) c.5246T>A (p.Val1749Glu) c.5792T>A (p.Val1931Glu) c.5609T>A (p.Val1870Glu) c.5330T>A (p.Val1777Glu) c.4373T>A (p.Val1458Glu) c.4364T>A (p.Val1455Glu) | |
| 5 | g.37038620T>C | CA359497912 | NIPBL | c.5990T>C (p.Val1997Ala) c.1-25958T>C (n.1-25958T>C) c.5246T>C (p.Val1749Ala) c.5792T>C (p.Val1931Ala) c.5609T>C (p.Val1870Ala) c.5330T>C (p.Val1777Ala) c.4373T>C (p.Val1458Ala) c.4364T>C (p.Val1455Ala) | |
| 5 | g.37038620T>G | CA359497915 | NIPBL | c.5990T>G (p.Val1997Gly) c.1-25958T>G (n.1-25958T>G) c.5246T>G (p.Val1749Gly) c.5792T>G (p.Val1931Gly) c.5609T>G (p.Val1870Gly) c.5330T>G (p.Val1777Gly) c.4373T>G (p.Val1458Gly) c.4364T>G (p.Val1455Gly) | |
| 5 | g.37038621G>A | CA443905786 | NIPBL | c.5991G>A (p.Val1997=) c.1-25957G>A (n.1-25957G>A) c.5247G>A (p.Val1749=) c.5793G>A (p.Val1931=) c.5610G>A (p.Val1870=) c.5331G>A (p.Val1777=) c.4374G>A (p.Val1458=) c.4365G>A (p.Val1455=) | |
| 5 | g.37038621G>C | CA443905788 | NIPBL | c.5991G>C (p.Val1997=) c.1-25957G>C (n.1-25957G>C) c.5247G>C (p.Val1749=) c.5793G>C (p.Val1931=) c.5610G>C (p.Val1870=) c.5331G>C (p.Val1777=) c.4374G>C (p.Val1458=) c.4365G>C (p.Val1455=) | |
| 5 | g.37038621G>T | CA443905787 | NIPBL | c.5991G>T (p.Val1997=) c.1-25957G>T (n.1-25957G>T) c.5247G>T (p.Val1749=) c.5793G>T (p.Val1931=) c.5610G>T (p.Val1870=) c.5331G>T (p.Val1777=) c.4374G>T (p.Val1458=) c.4365G>T (p.Val1455=) | |
| 5 | g.37038622A>C | CA359497924 | NIPBL | c.5992A>C (p.Asn1998His) c.1-25956A>C (n.1-25956A>C) c.5248A>C (p.Asn1750His) c.5794A>C (p.Asn1932His) c.5611A>C (p.Asn1871His) c.5332A>C (p.Asn1778His) c.4375A>C (p.Asn1459His) c.4366A>C (p.Asn1456His) | |
| 5 | g.37038622A>G | CA359497926 | NIPBL | c.5992A>G (p.Asn1998Asp) c.1-25956A>G (n.1-25956A>G) c.5248A>G (p.Asn1750Asp) c.5794A>G (p.Asn1932Asp) c.5611A>G (p.Asn1871Asp) c.5332A>G (p.Asn1778Asp) c.4375A>G (p.Asn1459Asp) c.4366A>G (p.Asn1456Asp) | |
| 5 | g.37038622A>T | CA359497929 | NIPBL | c.5992A>T (p.Asn1998Tyr) c.1-25956A>T (n.1-25956A>T) c.5248A>T (p.Asn1750Tyr) c.5794A>T (p.Asn1932Tyr) c.5611A>T (p.Asn1871Tyr) c.5332A>T (p.Asn1778Tyr) c.4375A>T (p.Asn1459Tyr) c.4366A>T (p.Asn1456Tyr) | |
| 5 | g.37038623A>C | CA359497932 | NIPBL | c.5993A>C (p.Asn1998Thr) c.1-25955A>C (n.1-25955A>C) c.5249A>C (p.Asn1750Thr) c.5795A>C (p.Asn1932Thr) c.5612A>C (p.Asn1871Thr) c.5333A>C (p.Asn1778Thr) c.4376A>C (p.Asn1459Thr) c.4367A>C (p.Asn1456Thr) | |
| 5 | g.37038623A>G | CA359497934 | NIPBL | c.5993A>G (p.Asn1998Ser) c.1-25955A>G (n.1-25955A>G) c.5249A>G (p.Asn1750Ser) c.5795A>G (p.Asn1932Ser) c.5612A>G (p.Asn1871Ser) c.5333A>G (p.Asn1778Ser) c.4376A>G (p.Asn1459Ser) c.4367A>G (p.Asn1456Ser) | |
| 5 | g.37038623A>T | CA359497937 | NIPBL | c.5993A>T (p.Asn1998Ile) c.1-25955A>T (n.1-25955A>T) c.5249A>T (p.Asn1750Ile) c.5795A>T (p.Asn1932Ile) c.5612A>T (p.Asn1871Ile) c.5333A>T (p.Asn1778Ile) c.4376A>T (p.Asn1459Ile) c.4367A>T (p.Asn1456Ile) | |
| 5 | g.37038624T>A | CA359497941 | NIPBL | c.5994T>A (p.Asn1998Lys) c.1-25954T>A (n.1-25954T>A) c.5250T>A (p.Asn1750Lys) c.5796T>A (p.Asn1932Lys) c.5613T>A (p.Asn1871Lys) c.5334T>A (p.Asn1778Lys) c.4377T>A (p.Asn1459Lys) c.4368T>A (p.Asn1456Lys) | |
| 5 | g.37038624T>C | CA443905789 | NIPBL | c.5994T>C (p.Asn1998=) c.1-25954T>C (n.1-25954T>C) c.5250T>C (p.Asn1750=) c.5796T>C (p.Asn1932=) c.5613T>C (p.Asn1871=) c.5334T>C (p.Asn1778=) c.4377T>C (p.Asn1459=) c.4368T>C (p.Asn1456=) | |
| 5 | g.37038624T>G | CA359497944 | NIPBL | c.5994T>G (p.Asn1998Lys) c.1-25954T>G (n.1-25954T>G) c.5250T>G (p.Asn1750Lys) c.5796T>G (p.Asn1932Lys) c.5613T>G (p.Asn1871Lys) c.5334T>G (p.Asn1778Lys) c.4377T>G (p.Asn1459Lys) c.4368T>G (p.Asn1456Lys) | |
| 5 | g.37038625T>A | CA359497952 | NIPBL | c.5995T>A (p.Ser1999Thr) c.1-25953T>A (n.1-25953T>A) c.5251T>A (p.Ser1751Thr) c.5797T>A (p.Ser1933Thr) c.5614T>A (p.Ser1872Thr) c.5335T>A (p.Ser1779Thr) c.4378T>A (p.Ser1460Thr) c.4369T>A (p.Ser1457Thr) | |
| 5 | g.37038625T>C | CA359497955 | NIPBL | c.5995T>C (p.Ser1999Pro) c.1-25953T>C (n.1-25953T>C) c.5251T>C (p.Ser1751Pro) c.5797T>C (p.Ser1933Pro) c.5614T>C (p.Ser1872Pro) c.5335T>C (p.Ser1779Pro) c.4378T>C (p.Ser1460Pro) c.4369T>C (p.Ser1457Pro) | |
| 5 | g.37038625T>G | CA359497956 | NIPBL | c.5995T>G (p.Ser1999Ala) c.1-25953T>G (n.1-25953T>G) c.5251T>G (p.Ser1751Ala) c.5797T>G (p.Ser1933Ala) c.5614T>G (p.Ser1872Ala) c.5335T>G (p.Ser1779Ala) c.4378T>G (p.Ser1460Ala) c.4369T>G (p.Ser1457Ala) | |
| 5 | g.37038626C>A | CA359497958 | NIPBL | c.5996C>A (p.Ser1999Tyr) c.1-25952C>A (n.1-25952C>A) c.5252C>A (p.Ser1751Tyr) c.5798C>A (p.Ser1933Tyr) c.5615C>A (p.Ser1872Tyr) c.5336C>A (p.Ser1779Tyr) c.4379C>A (p.Ser1460Tyr) c.4370C>A (p.Ser1457Tyr) | |
| 5 | g.37038626C>G | CA359497960 | NIPBL | c.5996C>G (p.Ser1999Cys) c.1-25952C>G (n.1-25952C>G) c.5252C>G (p.Ser1751Cys) c.5798C>G (p.Ser1933Cys) c.5615C>G (p.Ser1872Cys) c.5336C>G (p.Ser1779Cys) c.4379C>G (p.Ser1460Cys) c.4370C>G (p.Ser1457Cys) | |
| 5 | g.37038626C>T | CA359497957 | NIPBL | c.5996C>T (p.Ser1999Phe) c.1-25952C>T (n.1-25952C>T) c.5252C>T (p.Ser1751Phe) c.5798C>T (p.Ser1933Phe) c.5615C>T (p.Ser1872Phe) c.5336C>T (p.Ser1779Phe) c.4379C>T (p.Ser1460Phe) c.4370C>T (p.Ser1457Phe) | |
| 5 | g.37038627T>A | CA443905790 | NIPBL | c.5997T>A (p.Ser1999=) c.1-25951T>A (n.1-25951T>A) c.5253T>A (p.Ser1751=) c.5799T>A (p.Ser1933=) c.5616T>A (p.Ser1872=) c.5337T>A (p.Ser1779=) c.4380T>A (p.Ser1460=) c.4371T>A (p.Ser1457=) | |
| 5 | g.37038627T>C | CA443905791 | NIPBL | c.5997T>C (p.Ser1999=) c.1-25951T>C (n.1-25951T>C) c.5253T>C (p.Ser1751=) c.5799T>C (p.Ser1933=) c.5616T>C (p.Ser1872=) c.5337T>C (p.Ser1779=) c.4380T>C (p.Ser1460=) c.4371T>C (p.Ser1457=) | ClinVar dbSNP |
| 5 | g.37038627T>G | CA443905792 | NIPBL | c.5997T>G (p.Ser1999=) c.1-25951T>G (n.1-25951T>G) c.5253T>G (p.Ser1751=) c.5799T>G (p.Ser1933=) c.5616T>G (p.Ser1872=) c.5337T>G (p.Ser1779=) c.4380T>G (p.Ser1460=) c.4371T>G (p.Ser1457=) | |
| 5 | g.37038628G>A | CA359497963 | NIPBL | c.5998G>A (p.Gly2000Arg) c.1-25950G>A (n.1-25950G>A) c.5254G>A (p.Gly1752Arg) c.5800G>A (p.Gly1934Arg) c.5617G>A (p.Gly1873Arg) c.5338G>A (p.Gly1780Arg) c.4381G>A (p.Gly1461Arg) c.4372G>A (p.Gly1458Arg) | |
| 5 | g.37038628G>C | CA359497972 | NIPBL | c.5998G>C (p.Gly2000Arg) c.1-25950G>C (n.1-25950G>C) c.5254G>C (p.Gly1752Arg) c.5800G>C (p.Gly1934Arg) c.5617G>C (p.Gly1873Arg) c.5338G>C (p.Gly1780Arg) c.4381G>C (p.Gly1461Arg) c.4372G>C (p.Gly1458Arg) | |
| 5 | g.37038628G>T | CA359497974 | NIPBL | c.5998G>T (p.Gly2000Ter) c.1-25950G>T (n.1-25950G>T) c.5254G>T (p.Gly1752Ter) c.5800G>T (p.Gly1934Ter) c.5617G>T (p.Gly1873Ter) c.5338G>T (p.Gly1780Ter) c.4381G>T (p.Gly1461Ter) c.4372G>T (p.Gly1458Ter) | |
| 5 | g.37038629G>A | CA359497976 | NIPBL | c.5999G>A (p.Gly2000Glu) c.1-25949G>A (n.1-25949G>A) c.5255G>A (p.Gly1752Glu) c.5801G>A (p.Gly1934Glu) c.5618G>A (p.Gly1873Glu) c.5339G>A (p.Gly1780Glu) c.4382G>A (p.Gly1461Glu) c.4373G>A (p.Gly1458Glu) | |
| 5 | g.37038629G>C | CA359497978 | NIPBL | c.5999G>C (p.Gly2000Ala) c.1-25949G>C (n.1-25949G>C) c.5255G>C (p.Gly1752Ala) c.5801G>C (p.Gly1934Ala) c.5618G>C (p.Gly1873Ala) c.5339G>C (p.Gly1780Ala) c.4382G>C (p.Gly1461Ala) c.4373G>C (p.Gly1458Ala) | |
| 5 | g.37038629G>T | CA359497980 | NIPBL | c.5999G>T (p.Gly2000Val) c.1-25949G>T (n.1-25949G>T) c.5255G>T (p.Gly1752Val) c.5801G>T (p.Gly1934Val) c.5618G>T (p.Gly1873Val) c.5339G>T (p.Gly1780Val) c.4382G>T (p.Gly1461Val) c.4373G>T (p.Gly1458Val) | |
| 5 | g.37038630A>C | CA443905794 | NIPBL | c.6000A>C (p.Gly2000=) c.1-25948A>C (n.1-25948A>C) c.5256A>C (p.Gly1752=) c.5802A>C (p.Gly1934=) c.5619A>C (p.Gly1873=) c.5340A>C (p.Gly1780=) c.4383A>C (p.Gly1461=) c.4374A>C (p.Gly1458=) | |
| 5 | g.37038630A>G | CA443905795 | NIPBL | c.6000A>G (p.Gly2000=) c.1-25948A>G (n.1-25948A>G) c.5256A>G (p.Gly1752=) c.5802A>G (p.Gly1934=) c.5619A>G (p.Gly1873=) c.5340A>G (p.Gly1780=) c.4383A>G (p.Gly1461=) c.4374A>G (p.Gly1458=) | |
| 5 | g.37038630A>T | CA443905793 | NIPBL | c.6000A>T (p.Gly2000=) c.1-25948A>T (n.1-25948A>T) c.5256A>T (p.Gly1752=) c.5802A>T (p.Gly1934=) c.5619A>T (p.Gly1873=) c.5340A>T (p.Gly1780=) c.4383A>T (p.Gly1461=) c.4374A>T (p.Gly1458=) | |
| 5 | g.37038631A>C | CA443905796 | NIPBL | c.6001A>C (p.Arg2001=) c.1-25947A>C (n.1-25947A>C) c.5257A>C (p.Arg1753=) c.5803A>C (p.Arg1935=) c.5620A>C (p.Arg1874=) c.5341A>C (p.Arg1781=) c.4384A>C (p.Arg1462=) c.4375A>C (p.Arg1459=) | gnomAD v4 |
| 5 | g.37038631A>G | CA359497997 | NIPBL | c.6001A>G (p.Arg2001Gly) c.1-25947A>G (n.1-25947A>G) c.5257A>G (p.Arg1753Gly) c.5803A>G (p.Arg1935Gly) c.5620A>G (p.Arg1874Gly) c.5341A>G (p.Arg1781Gly) c.4384A>G (p.Arg1462Gly) c.4375A>G (p.Arg1459Gly) | |
| 5 | g.37038631A>T | CA359497998 | NIPBL | c.6001A>T (p.Arg2001Ter) c.1-25947A>T (n.1-25947A>T) c.5257A>T (p.Arg1753Ter) c.5803A>T (p.Arg1935Ter) c.5620A>T (p.Arg1874Ter) c.5341A>T (p.Arg1781Ter) c.4384A>T (p.Arg1462Ter) c.4375A>T (p.Arg1459Ter) | |
| 5 | g.37038632G>A | CA359497999 | NIPBL | c.6002G>A (p.Arg2001Lys) c.1-25946G>A (n.1-25946G>A) c.5258G>A (p.Arg1753Lys) c.5804G>A (p.Arg1935Lys) c.5621G>A (p.Arg1874Lys) c.5342G>A (p.Arg1781Lys) c.4385G>A (p.Arg1462Lys) c.4376G>A (p.Arg1459Lys) | |
| 5 | g.37038632G>C | CA359498000 | NIPBL | c.6002G>C (p.Arg2001Thr) c.1-25946G>C (n.1-25946G>C) c.5258G>C (p.Arg1753Thr) c.5804G>C (p.Arg1935Thr) c.5621G>C (p.Arg1874Thr) c.5342G>C (p.Arg1781Thr) c.4385G>C (p.Arg1462Thr) c.4376G>C (p.Arg1459Thr) | |
| 5 | g.37038632G>T | CA359498001 | NIPBL | c.6002G>T (p.Arg2001Ile) c.1-25946G>T (n.1-25946G>T) c.5258G>T (p.Arg1753Ile) c.5804G>T (p.Arg1935Ile) c.5621G>T (p.Arg1874Ile) c.5342G>T (p.Arg1781Ile) c.4385G>T (p.Arg1462Ile) c.4376G>T (p.Arg1459Ile) | gnomAD v4 |
| 5 | g.37038633A>C | CA359498004 | NIPBL | c.6003A>C (p.Arg2001Ser) c.1-25945A>C (n.1-25945A>C) c.5259A>C (p.Arg1753Ser) c.5805A>C (p.Arg1935Ser) c.5622A>C (p.Arg1874Ser) c.5343A>C (p.Arg1781Ser) c.4386A>C (p.Arg1462Ser) c.4377A>C (p.Arg1459Ser) | |
| 5 | g.37038633A>G | CA443905797 | NIPBL | c.6003A>G (p.Arg2001=) c.1-25945A>G (n.1-25945A>G) c.5259A>G (p.Arg1753=) c.5805A>G (p.Arg1935=) c.5622A>G (p.Arg1874=) c.5343A>G (p.Arg1781=) c.4386A>G (p.Arg1462=) c.4377A>G (p.Arg1459=) | |
| 5 | g.37038633A>T | CA359498007 | NIPBL | c.6003A>T (p.Arg2001Ser) c.1-25945A>T (n.1-25945A>T) c.5259A>T (p.Arg1753Ser) c.5805A>T (p.Arg1935Ser) c.5622A>T (p.Arg1874Ser) c.5343A>T (p.Arg1781Ser) c.4386A>T (p.Arg1462Ser) c.4377A>T (p.Arg1459Ser) | |
| 5 | g.37038634T>A | CA359498012 | NIPBL | c.6004T>A (p.Leu2002Met) c.1-25944T>A (n.1-25944T>A) c.5260T>A (p.Leu1754Met) c.5806T>A (p.Leu1936Met) c.5623T>A (p.Leu1875Met) c.5344T>A (p.Leu1782Met) c.4387T>A (p.Leu1463Met) c.4378T>A (p.Leu1460Met) | |
| 5 | g.37038634T>C | CA117038336 | NIPBL | c.6004T>C (p.Leu2002=) c.1-25944T>C (n.1-25944T>C) c.5260T>C (p.Leu1754=) c.5806T>C (p.Leu1936=) c.5623T>C (p.Leu1875=) c.5344T>C (p.Leu1782=) c.4387T>C (p.Leu1463=) c.4378T>C (p.Leu1460=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038634T>G | CA359498015 | NIPBL | c.6004T>G (p.Leu2002Val) c.1-25944T>G (n.1-25944T>G) c.5260T>G (p.Leu1754Val) c.5806T>G (p.Leu1936Val) c.5623T>G (p.Leu1875Val) c.5344T>G (p.Leu1782Val) c.4387T>G (p.Leu1463Val) c.4378T>G (p.Leu1460Val) | gnomAD v4 |
| 5 | g.37038634T= | CA1539611474 | NIPBL | c.6004T= (p.Leu2002=) c.1-25944T= (n.1-25944T=) c.5260T= (p.Leu1754=) c.5806T= (p.Leu1936=) c.5623T= (p.Leu1875=) c.5344T= (p.Leu1782=) c.4387T= (p.Leu1463=) c.4378T= (p.Leu1460=) | |
| 5 | g.37038635T>A | CA359498022 | NIPBL | c.6005T>A (p.Leu2002Ter) c.1-25943T>A (n.1-25943T>A) c.5261T>A (p.Leu1754Ter) c.5807T>A (p.Leu1936Ter) c.5624T>A (p.Leu1875Ter) c.5345T>A (p.Leu1782Ter) c.4388T>A (p.Leu1463Ter) c.4379T>A (p.Leu1460Ter) | |
| 5 | g.37038635T>C | CA359498024 | NIPBL | c.6005T>C (p.Leu2002Ser) c.1-25943T>C (n.1-25943T>C) c.5261T>C (p.Leu1754Ser) c.5807T>C (p.Leu1936Ser) c.5624T>C (p.Leu1875Ser) c.5345T>C (p.Leu1782Ser) c.4388T>C (p.Leu1463Ser) c.4379T>C (p.Leu1460Ser) | dbSNP |
| 5 | g.37038635T>G | CA359498027 | NIPBL | c.6005T>G (p.Leu2002Trp) c.1-25943T>G (n.1-25943T>G) c.5261T>G (p.Leu1754Trp) c.5807T>G (p.Leu1936Trp) c.5624T>G (p.Leu1875Trp) c.5345T>G (p.Leu1782Trp) c.4388T>G (p.Leu1463Trp) c.4379T>G (p.Leu1460Trp) | |
| 5 | g.37038635T= | CA1539611479 | NIPBL | c.6005T= (p.Leu2002=) c.1-25943T= (n.1-25943T=) c.5261T= (p.Leu1754=) c.5807T= (p.Leu1936=) c.5624T= (p.Leu1875=) c.5345T= (p.Leu1782=) c.4388T= (p.Leu1463=) c.4379T= (p.Leu1460=) | |
| 5 | g.37038636G>A | CA443905798 | NIPBL | c.6006G>A (p.Leu2002=) c.1-25942G>A (n.1-25942G>A) c.5262G>A (p.Leu1754=) c.5808G>A (p.Leu1936=) c.5625G>A (p.Leu1875=) c.5346G>A (p.Leu1782=) c.4389G>A (p.Leu1463=) c.4380G>A (p.Leu1460=) | |
| 5 | g.37038636G>C | CA359498028 | NIPBL | c.6006G>C (p.Leu2002Phe) c.1-25942G>C (n.1-25942G>C) c.5262G>C (p.Leu1754Phe) c.5808G>C (p.Leu1936Phe) c.5625G>C (p.Leu1875Phe) c.5346G>C (p.Leu1782Phe) c.4389G>C (p.Leu1463Phe) c.4380G>C (p.Leu1460Phe) | |
| 5 | g.37038636G>T | CA359498029 | NIPBL | c.6006G>T (p.Leu2002Phe) c.1-25942G>T (n.1-25942G>T) c.5262G>T (p.Leu1754Phe) c.5808G>T (p.Leu1936Phe) c.5625G>T (p.Leu1875Phe) c.5346G>T (p.Leu1782Phe) c.4389G>T (p.Leu1463Phe) c.4380G>T (p.Leu1460Phe) | |
| 5 | g.37038637G>A | CA359498030 | NIPBL | c.6007G>A (p.Val2003Ile) c.1-25941G>A (n.1-25941G>A) c.5263G>A (p.Val1755Ile) c.5809G>A (p.Val1937Ile) c.5626G>A (p.Val1876Ile) c.5347G>A (p.Val1783Ile) c.4390G>A (p.Val1464Ile) c.4381G>A (p.Val1461Ile) | COSMIC COSMIC |
| 5 | g.37038637G>C | CA359498031 | NIPBL | c.6007G>C (p.Val2003Leu) c.1-25941G>C (n.1-25941G>C) c.5263G>C (p.Val1755Leu) c.5809G>C (p.Val1937Leu) c.5626G>C (p.Val1876Leu) c.5347G>C (p.Val1783Leu) c.4390G>C (p.Val1464Leu) c.4381G>C (p.Val1461Leu) | |
| 5 | g.37038637G>T | CA359498034 | NIPBL | c.6007G>T (p.Val2003Leu) c.1-25941G>T (n.1-25941G>T) c.5263G>T (p.Val1755Leu) c.5809G>T (p.Val1937Leu) c.5626G>T (p.Val1876Leu) c.5347G>T (p.Val1783Leu) c.4390G>T (p.Val1464Leu) c.4381G>T (p.Val1461Leu) | |
| 5 | g.37038638T>A | CA359498037 | NIPBL | c.6008T>A (p.Val2003Glu) c.1-25940T>A (n.1-25940T>A) c.5264T>A (p.Val1755Glu) c.5810T>A (p.Val1937Glu) c.5627T>A (p.Val1876Glu) c.5348T>A (p.Val1783Glu) c.4391T>A (p.Val1464Glu) c.4382T>A (p.Val1461Glu) | |
| 5 | g.37038638T>C | CA359498038 | NIPBL | c.6008T>C (p.Val2003Ala) c.1-25940T>C (n.1-25940T>C) c.5264T>C (p.Val1755Ala) c.5810T>C (p.Val1937Ala) c.5627T>C (p.Val1876Ala) c.5348T>C (p.Val1783Ala) c.4391T>C (p.Val1464Ala) c.4382T>C (p.Val1461Ala) | |
| 5 | g.37038638T>G | CA359498039 | NIPBL | c.6008T>G (p.Val2003Gly) c.1-25940T>G (n.1-25940T>G) c.5264T>G (p.Val1755Gly) c.5810T>G (p.Val1937Gly) c.5627T>G (p.Val1876Gly) c.5348T>G (p.Val1783Gly) c.4391T>G (p.Val1464Gly) c.4382T>G (p.Val1461Gly) | |
| 5 | g.37038639A>C | CA443905799 | NIPBL | c.6009A>C (p.Val2003=) c.1-25939A>C (n.1-25939A>C) c.5265A>C (p.Val1755=) c.5811A>C (p.Val1937=) c.5628A>C (p.Val1876=) c.5349A>C (p.Val1783=) c.4392A>C (p.Val1464=) c.4383A>C (p.Val1461=) | |
| 5 | g.37038639A>G | CA443905800 | NIPBL | c.6009A>G (p.Val2003=) c.1-25939A>G (n.1-25939A>G) c.5265A>G (p.Val1755=) c.5811A>G (p.Val1937=) c.5628A>G (p.Val1876=) c.5349A>G (p.Val1783=) c.4392A>G (p.Val1464=) c.4383A>G (p.Val1461=) | |
| 5 | g.37038639A>T | CA443905801 | NIPBL | c.6009A>T (p.Val2003=) c.1-25939A>T (n.1-25939A>T) c.5265A>T (p.Val1755=) c.5811A>T (p.Val1937=) c.5628A>T (p.Val1876=) c.5349A>T (p.Val1783=) c.4392A>T (p.Val1464=) c.4383A>T (p.Val1461=) | |
| 5 | g.37038640G>A | CA359498045 | NIPBL | c.6010G>A (p.Ala2004Thr) c.1-25938G>A (n.1-25938G>A) c.5266G>A (p.Ala1756Thr) c.5812G>A (p.Ala1938Thr) c.5629G>A (p.Ala1877Thr) c.5350G>A (p.Ala1784Thr) c.4393G>A (p.Ala1465Thr) c.4384G>A (p.Ala1462Thr) | |
| 5 | g.37038640G>C | CA359498043 | NIPBL | c.6010G>C (p.Ala2004Pro) c.1-25938G>C (n.1-25938G>C) c.5266G>C (p.Ala1756Pro) c.5812G>C (p.Ala1938Pro) c.5629G>C (p.Ala1877Pro) c.5350G>C (p.Ala1784Pro) c.4393G>C (p.Ala1465Pro) c.4384G>C (p.Ala1462Pro) | |
| 5 | g.37038640G>T | CA359498040 | NIPBL | c.6010G>T (p.Ala2004Ser) c.1-25938G>T (n.1-25938G>T) c.5266G>T (p.Ala1756Ser) c.5812G>T (p.Ala1938Ser) c.5629G>T (p.Ala1877Ser) c.5350G>T (p.Ala1784Ser) c.4393G>T (p.Ala1465Ser) c.4384G>T (p.Ala1462Ser) | |
| 5 | g.37038641C>A | CA359498048 | NIPBL | c.6011C>A (p.Ala2004Asp) c.1-25937C>A (n.1-25937C>A) c.5267C>A (p.Ala1756Asp) c.5813C>A (p.Ala1938Asp) c.5630C>A (p.Ala1877Asp) c.5351C>A (p.Ala1784Asp) c.4394C>A (p.Ala1465Asp) c.4385C>A (p.Ala1462Asp) | |
| 5 | g.37038641C>G | CA359498053 | NIPBL | c.6011C>G (p.Ala2004Gly) c.1-25937C>G (n.1-25937C>G) c.5267C>G (p.Ala1756Gly) c.5813C>G (p.Ala1938Gly) c.5630C>G (p.Ala1877Gly) c.5351C>G (p.Ala1784Gly) c.4394C>G (p.Ala1465Gly) c.4385C>G (p.Ala1462Gly) | |
| 5 | g.37038641C>T | CA359498050 | NIPBL | c.6011C>T (p.Ala2004Val) c.1-25937C>T (n.1-25937C>T) c.5267C>T (p.Ala1756Val) c.5813C>T (p.Ala1938Val) c.5630C>T (p.Ala1877Val) c.5351C>T (p.Ala1784Val) c.4394C>T (p.Ala1465Val) c.4385C>T (p.Ala1462Val) | |
| 5 | g.37038642T>A | CA443905802 | NIPBL | c.6012T>A (p.Ala2004=) c.1-25936T>A (n.1-25936T>A) c.5268T>A (p.Ala1756=) c.5814T>A (p.Ala1938=) c.5631T>A (p.Ala1877=) c.5352T>A (p.Ala1784=) c.4395T>A (p.Ala1465=) c.4386T>A (p.Ala1462=) | |
| 5 | g.37038642T>C | CA443905804 | NIPBL | c.6012T>C (p.Ala2004=) c.1-25936T>C (n.1-25936T>C) c.5268T>C (p.Ala1756=) c.5814T>C (p.Ala1938=) c.5631T>C (p.Ala1877=) c.5352T>C (p.Ala1784=) c.4395T>C (p.Ala1465=) c.4386T>C (p.Ala1462=) | |
| 5 | g.37038642T>G | CA443905803 | NIPBL | c.6012T>G (p.Ala2004=) c.1-25936T>G (n.1-25936T>G) c.5268T>G (p.Ala1756=) c.5814T>G (p.Ala1938=) c.5631T>G (p.Ala1877=) c.5352T>G (p.Ala1784=) c.4395T>G (p.Ala1465=) c.4386T>G (p.Ala1462=) | |
| 5 | g.37038643T>A | CA359498058 | NIPBL | c.6013T>A (p.Cys2005Ser) c.1-25935T>A (n.1-25935T>A) c.5269T>A (p.Cys1757Ser) c.5815T>A (p.Cys1939Ser) c.5632T>A (p.Cys1878Ser) c.5353T>A (p.Cys1785Ser) c.4396T>A (p.Cys1466Ser) c.4387T>A (p.Cys1463Ser) | |
| 5 | g.37038643T>C | CA359498066 | NIPBL | c.6013T>C (p.Cys2005Arg) c.1-25935T>C (n.1-25935T>C) c.5269T>C (p.Cys1757Arg) c.5815T>C (p.Cys1939Arg) c.5632T>C (p.Cys1878Arg) c.5353T>C (p.Cys1785Arg) c.4396T>C (p.Cys1466Arg) c.4387T>C (p.Cys1463Arg) | |
| 5 | g.37038643T>G | CA359498070 | NIPBL | c.6013T>G (p.Cys2005Gly) c.1-25935T>G (n.1-25935T>G) c.5269T>G (p.Cys1757Gly) c.5815T>G (p.Cys1939Gly) c.5632T>G (p.Cys1878Gly) c.5353T>G (p.Cys1785Gly) c.4396T>G (p.Cys1466Gly) c.4387T>G (p.Cys1463Gly) | |
| 5 | g.37038644G>A | CA359498072 | NIPBL | c.6014G>A (p.Cys2005Tyr) c.1-25934G>A (n.1-25934G>A) c.5270G>A (p.Cys1757Tyr) c.5816G>A (p.Cys1939Tyr) c.5633G>A (p.Cys1878Tyr) c.5354G>A (p.Cys1785Tyr) c.4397G>A (p.Cys1466Tyr) c.4388G>A (p.Cys1463Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038644G>C | CA359498073 | NIPBL | c.6014G>C (p.Cys2005Ser) c.1-25934G>C (n.1-25934G>C) c.5270G>C (p.Cys1757Ser) c.5816G>C (p.Cys1939Ser) c.5633G>C (p.Cys1878Ser) c.5354G>C (p.Cys1785Ser) c.4397G>C (p.Cys1466Ser) c.4388G>C (p.Cys1463Ser) | |
| 5 | g.37038644G= | CA1539611484 | NIPBL | c.6014G= (p.Cys2005=) c.1-25934G= (n.1-25934G=) c.5270G= (p.Cys1757=) c.5816G= (p.Cys1939=) c.5633G= (p.Cys1878=) c.5354G= (p.Cys1785=) c.4397G= (p.Cys1466=) c.4388G= (p.Cys1463=) | |
| 5 | g.37038644G>T | CA359498074 | NIPBL | c.6014G>T (p.Cys2005Phe) c.1-25934G>T (n.1-25934G>T) c.5270G>T (p.Cys1757Phe) c.5816G>T (p.Cys1939Phe) c.5633G>T (p.Cys1878Phe) c.5354G>T (p.Cys1785Phe) c.4397G>T (p.Cys1466Phe) c.4388G>T (p.Cys1463Phe) | |
| 5 | g.37038645C>A | CA359498078 | NIPBL | c.6015C>A (p.Cys2005Ter) c.1-25933C>A (n.1-25933C>A) c.5271C>A (p.Cys1757Ter) c.5817C>A (p.Cys1939Ter) c.5634C>A (p.Cys1878Ter) c.5355C>A (p.Cys1785Ter) c.4398C>A (p.Cys1466Ter) c.4389C>A (p.Cys1463Ter) | |
| 5 | g.37038645C>G | CA359498086 | NIPBL | c.6015C>G (p.Cys2005Trp) c.1-25933C>G (n.1-25933C>G) c.5271C>G (p.Cys1757Trp) c.5817C>G (p.Cys1939Trp) c.5634C>G (p.Cys1878Trp) c.5355C>G (p.Cys1785Trp) c.4398C>G (p.Cys1466Trp) c.4389C>G (p.Cys1463Trp) | |
| 5 | g.37038645C>T | CA443905805 | NIPBL | c.6015C>T (p.Cys2005=) c.1-25933C>T (n.1-25933C>T) c.5271C>T (p.Cys1757=) c.5817C>T (p.Cys1939=) c.5634C>T (p.Cys1878=) c.5355C>T (p.Cys1785=) c.4398C>T (p.Cys1466=) c.4389C>T (p.Cys1463=) | gnomAD v4 |
| 5 | g.37038646A= | CA1539611488 | NIPBL | c.6016A= (p.Ile2006=) c.1-25932A= (n.1-25932A=) c.5272A= (p.Ile1758=) c.5818A= (p.Ile1940=) c.5635A= (p.Ile1879=) c.5356A= (p.Ile1786=) c.4399A= (p.Ile1467=) c.4390A= (p.Ile1464=) | |
| 5 | g.37038646A>C | CA359498090 | NIPBL | c.6016A>C (p.Ile2006Leu) c.1-25932A>C (n.1-25932A>C) c.5272A>C (p.Ile1758Leu) c.5818A>C (p.Ile1940Leu) c.5635A>C (p.Ile1879Leu) c.5356A>C (p.Ile1786Leu) c.4399A>C (p.Ile1467Leu) c.4390A>C (p.Ile1464Leu) | |
| 5 | g.37038646A>G | CA359498091 | NIPBL | c.6016A>G (p.Ile2006Val) c.1-25932A>G (n.1-25932A>G) c.5272A>G (p.Ile1758Val) c.5818A>G (p.Ile1940Val) c.5635A>G (p.Ile1879Val) c.5356A>G (p.Ile1786Val) c.4399A>G (p.Ile1467Val) c.4390A>G (p.Ile1464Val) | dbSNP |
| 5 | g.37038646A>T | CA359498092 | NIPBL | c.6016A>T (p.Ile2006Leu) c.1-25932A>T (n.1-25932A>T) c.5272A>T (p.Ile1758Leu) c.5818A>T (p.Ile1940Leu) c.5635A>T (p.Ile1879Leu) c.5356A>T (p.Ile1786Leu) c.4399A>T (p.Ile1467Leu) c.4390A>T (p.Ile1464Leu) | |
| 5 | g.37038647_37038648dup | CA2697547124 | NIPBL | c.6017_6018dup (p.Thr2007Ter) c.1-25931_1-25930dup (n.1-25931_1-25930dup) c.5273_5274dup (p.Thr1759Ter) c.5819_5820dup (p.Thr1941Ter) c.5636_5637dup (p.Thr1880Ter) c.5357_5358dup (p.Thr1787Ter) c.4400_4401dup (p.Thr1468Ter) c.4391_4392dup (p.Thr1465Ter) | ClinVar |
| 5 | g.37038647T>A | CA359498097 | NIPBL | c.6017T>A (p.Ile2006Lys) c.1-25931T>A (n.1-25931T>A) c.5273T>A (p.Ile1758Lys) c.5819T>A (p.Ile1940Lys) c.5636T>A (p.Ile1879Lys) c.5357T>A (p.Ile1786Lys) c.4400T>A (p.Ile1467Lys) c.4391T>A (p.Ile1464Lys) | |
| 5 | g.37038647T>C | CA359498094 | NIPBL | c.6017T>C (p.Ile2006Thr) c.1-25931T>C (n.1-25931T>C) c.5273T>C (p.Ile1758Thr) c.5819T>C (p.Ile1940Thr) c.5636T>C (p.Ile1879Thr) c.5357T>C (p.Ile1786Thr) c.4400T>C (p.Ile1467Thr) c.4391T>C (p.Ile1464Thr) | |
| 5 | g.37038647T>G | CA359498093 | NIPBL | c.6017T>G (p.Ile2006Arg) c.1-25931T>G (n.1-25931T>G) c.5273T>G (p.Ile1758Arg) c.5819T>G (p.Ile1940Arg) c.5636T>G (p.Ile1879Arg) c.5357T>G (p.Ile1786Arg) c.4400T>G (p.Ile1467Arg) c.4391T>G (p.Ile1464Arg) | |
| 5 | g.37038648A>C | CA443905806 | NIPBL | c.6018A>C (p.Ile2006=) c.1-25930A>C (n.1-25930A>C) c.5274A>C (p.Ile1758=) c.5820A>C (p.Ile1940=) c.5637A>C (p.Ile1879=) c.5358A>C (p.Ile1786=) c.4401A>C (p.Ile1467=) c.4392A>C (p.Ile1464=) | |
| 5 | g.37038648A>G | CA359498099 | NIPBL | c.6018A>G (p.Ile2006Met) c.1-25930A>G (n.1-25930A>G) c.5274A>G (p.Ile1758Met) c.5820A>G (p.Ile1940Met) c.5637A>G (p.Ile1879Met) c.5358A>G (p.Ile1786Met) c.4401A>G (p.Ile1467Met) c.4392A>G (p.Ile1464Met) | |
| 5 | g.37038648A>T | CA443905807 | NIPBL | c.6018A>T (p.Ile2006=) c.1-25930A>T (n.1-25930A>T) c.5274A>T (p.Ile1758=) c.5820A>T (p.Ile1940=) c.5637A>T (p.Ile1879=) c.5358A>T (p.Ile1786=) c.4401A>T (p.Ile1467=) c.4392A>T (p.Ile1464=) | |
| 5 | g.37038649A>C | CA359498105 | NIPBL | c.6019A>C (p.Thr2007Pro) c.1-25929A>C (n.1-25929A>C) c.5275A>C (p.Thr1759Pro) c.5821A>C (p.Thr1941Pro) c.5638A>C (p.Thr1880Pro) c.5359A>C (p.Thr1787Pro) c.4402A>C (p.Thr1468Pro) c.4393A>C (p.Thr1465Pro) | |
| 5 | g.37038649A>G | CA359498108 | NIPBL | c.6019A>G (p.Thr2007Ala) c.1-25929A>G (n.1-25929A>G) c.5275A>G (p.Thr1759Ala) c.5821A>G (p.Thr1941Ala) c.5638A>G (p.Thr1880Ala) c.5359A>G (p.Thr1787Ala) c.4402A>G (p.Thr1468Ala) c.4393A>G (p.Thr1465Ala) | |
| 5 | g.37038649A>T | CA359498113 | NIPBL | c.6019A>T (p.Thr2007Ser) c.1-25929A>T (n.1-25929A>T) c.5275A>T (p.Thr1759Ser) c.5821A>T (p.Thr1941Ser) c.5638A>T (p.Thr1880Ser) c.5359A>T (p.Thr1787Ser) c.4402A>T (p.Thr1468Ser) c.4393A>T (p.Thr1465Ser) | |
| 5 | g.37038650C>A | CA359498116 | NIPBL | c.6020C>A (p.Thr2007Asn) c.1-25928C>A (n.1-25928C>A) c.5276C>A (p.Thr1759Asn) c.5822C>A (p.Thr1941Asn) c.5639C>A (p.Thr1880Asn) c.5360C>A (p.Thr1787Asn) c.4403C>A (p.Thr1468Asn) c.4394C>A (p.Thr1465Asn) | |
| 5 | g.37038650C>G | CA359498120 | NIPBL | c.6020C>G (p.Thr2007Ser) c.1-25928C>G (n.1-25928C>G) c.5276C>G (p.Thr1759Ser) c.5822C>G (p.Thr1941Ser) c.5639C>G (p.Thr1880Ser) c.5360C>G (p.Thr1787Ser) c.4403C>G (p.Thr1468Ser) c.4394C>G (p.Thr1465Ser) | |
| 5 | g.37038650C>T | CA359498133 | NIPBL | c.6020C>T (p.Thr2007Ile) c.1-25928C>T (n.1-25928C>T) c.5276C>T (p.Thr1759Ile) c.5822C>T (p.Thr1941Ile) c.5639C>T (p.Thr1880Ile) c.5360C>T (p.Thr1787Ile) c.4403C>T (p.Thr1468Ile) c.4394C>T (p.Thr1465Ile) | |
| 5 | g.37038651C>A | CA443905809 | NIPBL | c.6021C>A (p.Thr2007=) c.1-25927C>A (n.1-25927C>A) c.5277C>A (p.Thr1759=) c.5823C>A (p.Thr1941=) c.5640C>A (p.Thr1880=) c.5361C>A (p.Thr1787=) c.4404C>A (p.Thr1468=) c.4395C>A (p.Thr1465=) | |
| 5 | g.37038651C>G | CA443905810 | NIPBL | c.6021C>G (p.Thr2007=) c.1-25927C>G (n.1-25927C>G) c.5277C>G (p.Thr1759=) c.5823C>G (p.Thr1941=) c.5640C>G (p.Thr1880=) c.5361C>G (p.Thr1787=) c.4404C>G (p.Thr1468=) c.4395C>G (p.Thr1465=) | |
| 5 | g.37038651C>T | CA443905808 | NIPBL | c.6021C>T (p.Thr2007=) c.1-25927C>T (n.1-25927C>T) c.5277C>T (p.Thr1759=) c.5823C>T (p.Thr1941=) c.5640C>T (p.Thr1880=) c.5361C>T (p.Thr1787=) c.4404C>T (p.Thr1468=) c.4395C>T (p.Thr1465=) | |
| 5 | g.37038652A= | CA1539611490 | NIPBL | c.6022A= (p.Thr2008=) c.1-25926A= (n.1-25926A=) c.5278A= (p.Thr1760=) c.5824A= (p.Thr1942=) c.5641A= (p.Thr1881=) c.5362A= (p.Thr1788=) c.4405A= (p.Thr1469=) c.4396A= (p.Thr1466=) | |
| 5 | g.37038652A>C | CA359498137 | NIPBL | c.6022A>C (p.Thr2008Pro) c.1-25926A>C (n.1-25926A>C) c.5278A>C (p.Thr1760Pro) c.5824A>C (p.Thr1942Pro) c.5641A>C (p.Thr1881Pro) c.5362A>C (p.Thr1788Pro) c.4405A>C (p.Thr1469Pro) c.4396A>C (p.Thr1466Pro) | |
| 5 | g.37038652A>G | CA359498140 | NIPBL | c.6022A>G (p.Thr2008Ala) c.1-25926A>G (n.1-25926A>G) c.5278A>G (p.Thr1760Ala) c.5824A>G (p.Thr1942Ala) c.5641A>G (p.Thr1881Ala) c.5362A>G (p.Thr1788Ala) c.4405A>G (p.Thr1469Ala) c.4396A>G (p.Thr1466Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038652A>T | CA359498153 | NIPBL | c.6022A>T (p.Thr2008Ser) c.1-25926A>T (n.1-25926A>T) c.5278A>T (p.Thr1760Ser) c.5824A>T (p.Thr1942Ser) c.5641A>T (p.Thr1881Ser) c.5362A>T (p.Thr1788Ser) c.4405A>T (p.Thr1469Ser) c.4396A>T (p.Thr1466Ser) | |
| 5 | g.37038653C>A | CA359498159 | NIPBL | c.6023C>A (p.Thr2008Asn) c.1-25925C>A (n.1-25925C>A) c.5279C>A (p.Thr1760Asn) c.5825C>A (p.Thr1942Asn) c.5642C>A (p.Thr1881Asn) c.5363C>A (p.Thr1788Asn) c.4406C>A (p.Thr1469Asn) c.4397C>A (p.Thr1466Asn) | |
| 5 | g.37038653C>G | CA359498161 | NIPBL | c.6023C>G (p.Thr2008Ser) c.1-25925C>G (n.1-25925C>G) c.5279C>G (p.Thr1760Ser) c.5825C>G (p.Thr1942Ser) c.5642C>G (p.Thr1881Ser) c.5363C>G (p.Thr1788Ser) c.4406C>G (p.Thr1469Ser) c.4397C>G (p.Thr1466Ser) | |
| 5 | g.37038653C>T | CA359498167 | NIPBL | c.6023C>T (p.Thr2008Ile) c.1-25925C>T (n.1-25925C>T) c.5279C>T (p.Thr1760Ile) c.5825C>T (p.Thr1942Ile) c.5642C>T (p.Thr1881Ile) c.5363C>T (p.Thr1788Ile) c.4406C>T (p.Thr1469Ile) c.4397C>T (p.Thr1466Ile) | |
| 5 | g.37038654T>A | CA443905811 | NIPBL | c.6024T>A (p.Thr2008=) c.1-25924T>A (n.1-25924T>A) c.5280T>A (p.Thr1760=) c.5826T>A (p.Thr1942=) c.5643T>A (p.Thr1881=) c.5364T>A (p.Thr1788=) c.4407T>A (p.Thr1469=) c.4398T>A (p.Thr1466=) | |
| 5 | g.37038654T>C | CA443905812 | NIPBL | c.6024T>C (p.Thr2008=) c.1-25924T>C (n.1-25924T>C) c.5280T>C (p.Thr1760=) c.5826T>C (p.Thr1942=) c.5643T>C (p.Thr1881=) c.5364T>C (p.Thr1788=) c.4407T>C (p.Thr1469=) c.4398T>C (p.Thr1466=) | |
| 5 | g.37038654T>G | CA117038341 | NIPBL | c.6024T>G (p.Thr2008=) c.1-25924T>G (n.1-25924T>G) c.5280T>G (p.Thr1760=) c.5826T>G (p.Thr1942=) c.5643T>G (p.Thr1881=) c.5364T>G (p.Thr1788=) c.4407T>G (p.Thr1469=) c.4398T>G (p.Thr1466=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37038654T= | CA1539611493 | NIPBL | c.6024T= (p.Thr2008=) c.1-25924T= (n.1-25924T=) c.5280T= (p.Thr1760=) c.5826T= (p.Thr1942=) c.5643T= (p.Thr1881=) c.5364T= (p.Thr1788=) c.4407T= (p.Thr1469=) c.4398T= (p.Thr1466=) | |
| 5 | g.37038655T>A | CA359498170 | NIPBL | c.6025T>A (p.Leu2009Met) c.1-25923T>A (n.1-25923T>A) c.5281T>A (p.Leu1761Met) c.5827T>A (p.Leu1943Met) c.5644T>A (p.Leu1882Met) c.5365T>A (p.Leu1789Met) c.4408T>A (p.Leu1470Met) c.4399T>A (p.Leu1467Met) | |
| 5 | g.37038655T>C | CA443905813 | NIPBL | c.6025T>C (p.Leu2009=) c.1-25923T>C (n.1-25923T>C) c.5281T>C (p.Leu1761=) c.5827T>C (p.Leu1943=) c.5644T>C (p.Leu1882=) c.5365T>C (p.Leu1789=) c.4408T>C (p.Leu1470=) c.4399T>C (p.Leu1467=) | |
| 5 | g.37038655T>G | CA359498181 | NIPBL | c.6025T>G (p.Leu2009Val) c.1-25923T>G (n.1-25923T>G) c.5281T>G (p.Leu1761Val) c.5827T>G (p.Leu1943Val) c.5644T>G (p.Leu1882Val) c.5365T>G (p.Leu1789Val) c.4408T>G (p.Leu1470Val) c.4399T>G (p.Leu1467Val) | |
| 5 | g.37038656T>A | CA359498183 | NIPBL | c.6026T>A (p.Leu2009Ter) c.1-25922T>A (n.1-25922T>A) c.5282T>A (p.Leu1761Ter) c.5828T>A (p.Leu1943Ter) c.5645T>A (p.Leu1882Ter) c.5366T>A (p.Leu1789Ter) c.4409T>A (p.Leu1470Ter) c.4400T>A (p.Leu1467Ter) | |
| 5 | g.37038656T>C | CA359498184 | NIPBL | c.6026T>C (p.Leu2009Ser) c.1-25922T>C (n.1-25922T>C) c.5282T>C (p.Leu1761Ser) c.5828T>C (p.Leu1943Ser) c.5645T>C (p.Leu1882Ser) c.5366T>C (p.Leu1789Ser) c.4409T>C (p.Leu1470Ser) c.4400T>C (p.Leu1467Ser) | |
| 5 | g.37038656T>G | CA359498186 | NIPBL | c.6026T>G (p.Leu2009Trp) c.1-25922T>G (n.1-25922T>G) c.5282T>G (p.Leu1761Trp) c.5828T>G (p.Leu1943Trp) c.5645T>G (p.Leu1882Trp) c.5366T>G (p.Leu1789Trp) c.4409T>G (p.Leu1470Trp) c.4400T>G (p.Leu1467Trp) | |
| 5 | g.37038657G>A | CA443905814 | NIPBL | c.6027G>A (p.Leu2009=) c.1-25921G>A (n.1-25921G>A) c.5283G>A (p.Leu1761=) c.5829G>A (p.Leu1943=) c.5646G>A (p.Leu1882=) c.5367G>A (p.Leu1789=) c.4410G>A (p.Leu1470=) c.4401G>A (p.Leu1467=) | |
| 5 | g.37038657G>C | CA359498188 | NIPBL | c.6027G>C (p.Leu2009Phe) c.1-25921G>C (n.1-25921G>C) c.5283G>C (p.Leu1761Phe) c.5829G>C (p.Leu1943Phe) c.5646G>C (p.Leu1882Phe) c.5367G>C (p.Leu1789Phe) c.4410G>C (p.Leu1470Phe) c.4401G>C (p.Leu1467Phe) | |
| 5 | g.37038657G>T | CA359498193 | NIPBL | c.6027G>T (p.Leu2009Phe) c.1-25921G>T (n.1-25921G>T) c.5283G>T (p.Leu1761Phe) c.5829G>T (p.Leu1943Phe) c.5646G>T (p.Leu1882Phe) c.5367G>T (p.Leu1789Phe) c.4410G>T (p.Leu1470Phe) c.4401G>T (p.Leu1467Phe) | |
| 5 | g.37038657_37038660del | CA2580073211 | NIPBL | c.6027_6030del (p.Leu2009PhefsTer6) c.1-25921_1-25918del (n.1-25921_1-25918del) c.5283_5286del (p.Leu1761PhefsTer6) c.5829_5832del (p.Leu1943PhefsTer6) c.5646_5649del (p.Leu1882PhefsTer6) c.5367_5370del (p.Leu1789PhefsTer6) c.4410_4413del (p.Leu1470PhefsTer6) c.4401_4404del (p.Leu1467PhefsTer6) | ClinVar dbSNP |
| 5 | g.37038658T>A | CA359498203 | NIPBL | c.6028T>A (p.Phe2010Ile) c.1-25920T>A (n.1-25920T>A) c.5284T>A (p.Phe1762Ile) c.5830T>A (p.Phe1944Ile) c.5647T>A (p.Phe1883Ile) c.5368T>A (p.Phe1790Ile) c.4411T>A (p.Phe1471Ile) c.4402T>A (p.Phe1468Ile) | |
| 5 | g.37038658T>C | CA359498204 | NIPBL | c.6028T>C (p.Phe2010Leu) c.1-25920T>C (n.1-25920T>C) c.5284T>C (p.Phe1762Leu) c.5830T>C (p.Phe1944Leu) c.5647T>C (p.Phe1883Leu) c.5368T>C (p.Phe1790Leu) c.4411T>C (p.Phe1471Leu) c.4402T>C (p.Phe1468Leu) | |
| 5 | g.37038658T>G | CA359498208 | NIPBL | c.6028T>G (p.Phe2010Val) c.1-25920T>G (n.1-25920T>G) c.5284T>G (p.Phe1762Val) c.5830T>G (p.Phe1944Val) c.5647T>G (p.Phe1883Val) c.5368T>G (p.Phe1790Val) c.4411T>G (p.Phe1471Val) c.4402T>G (p.Phe1468Val) | |
| 5 | g.37038659T>A | CA359498211 | NIPBL | c.6029T>A (p.Phe2010Tyr) c.1-25919T>A (n.1-25919T>A) c.5285T>A (p.Phe1762Tyr) c.5831T>A (p.Phe1944Tyr) c.5648T>A (p.Phe1883Tyr) c.5369T>A (p.Phe1790Tyr) c.4412T>A (p.Phe1471Tyr) c.4403T>A (p.Phe1468Tyr) | |
| 5 | g.37038659T>C | CA359498215 | NIPBL | c.6029T>C (p.Phe2010Ser) c.1-25919T>C (n.1-25919T>C) c.5285T>C (p.Phe1762Ser) c.5831T>C (p.Phe1944Ser) c.5648T>C (p.Phe1883Ser) c.5369T>C (p.Phe1790Ser) c.4412T>C (p.Phe1471Ser) c.4403T>C (p.Phe1468Ser) | |
| 5 | g.37038659T>G | CA359498222 | NIPBL | c.6029T>G (p.Phe2010Cys) c.1-25919T>G (n.1-25919T>G) c.5285T>G (p.Phe1762Cys) c.5831T>G (p.Phe1944Cys) c.5648T>G (p.Phe1883Cys) c.5369T>G (p.Phe1790Cys) c.4412T>G (p.Phe1471Cys) c.4403T>G (p.Phe1468Cys) | |
| 5 | g.37038660C>A | CA359498223 | NIPBL | c.6030C>A (p.Phe2010Leu) c.1-25918C>A (n.1-25918C>A) c.5286C>A (p.Phe1762Leu) c.5832C>A (p.Phe1944Leu) c.5649C>A (p.Phe1883Leu) c.5370C>A (p.Phe1790Leu) c.4413C>A (p.Phe1471Leu) c.4404C>A (p.Phe1468Leu) | |
| 5 | g.37038660C>G | CA359498226 | NIPBL | c.6030C>G (p.Phe2010Leu) c.1-25918C>G (n.1-25918C>G) c.5286C>G (p.Phe1762Leu) c.5832C>G (p.Phe1944Leu) c.5649C>G (p.Phe1883Leu) c.5370C>G (p.Phe1790Leu) c.4413C>G (p.Phe1471Leu) c.4404C>G (p.Phe1468Leu) | |
| 5 | g.37038660C>T | CA443905815 | NIPBL | c.6030C>T (p.Phe2010=) c.1-25918C>T (n.1-25918C>T) c.5286C>T (p.Phe1762=) c.5832C>T (p.Phe1944=) c.5649C>T (p.Phe1883=) c.5370C>T (p.Phe1790=) c.4413C>T (p.Phe1471=) c.4404C>T (p.Phe1468=) | |
| 5 | g.37038661T>A | CA359498228 | NIPBL | c.6031T>A (p.Leu2011Ile) c.1-25917T>A (n.1-25917T>A) c.5287T>A (p.Leu1763Ile) c.5833T>A (p.Leu1945Ile) c.5650T>A (p.Leu1884Ile) c.5371T>A (p.Leu1791Ile) c.4414T>A (p.Leu1472Ile) c.4405T>A (p.Leu1469Ile) | |
| 5 | g.37038661T>C | CA443905816 | NIPBL | c.6031T>C (p.Leu2011=) c.1-25917T>C (n.1-25917T>C) c.5287T>C (p.Leu1763=) c.5833T>C (p.Leu1945=) c.5650T>C (p.Leu1884=) c.5371T>C (p.Leu1791=) c.4414T>C (p.Leu1472=) c.4405T>C (p.Leu1469=) | gnomAD v4 |
| 5 | g.37038661T>G | CA359498227 | NIPBL | c.6031T>G (p.Leu2011Val) c.1-25917T>G (n.1-25917T>G) c.5287T>G (p.Leu1763Val) c.5833T>G (p.Leu1945Val) c.5650T>G (p.Leu1884Val) c.5371T>G (p.Leu1791Val) c.4414T>G (p.Leu1472Val) c.4405T>G (p.Leu1469Val) | |
| 5 | g.37038662T>A | CA359498229 | NIPBL | c.6032T>A (p.Leu2011Ter) c.1-25916T>A (n.1-25916T>A) c.5288T>A (p.Leu1763Ter) c.5834T>A (p.Leu1945Ter) c.5651T>A (p.Leu1884Ter) c.5372T>A (p.Leu1791Ter) c.4415T>A (p.Leu1472Ter) c.4406T>A (p.Leu1469Ter) | |
| 5 | g.37038662T>C | CA359498231 | NIPBL | c.6032T>C (p.Leu2011Ser) c.1-25916T>C (n.1-25916T>C) c.5288T>C (p.Leu1763Ser) c.5834T>C (p.Leu1945Ser) c.5651T>C (p.Leu1884Ser) c.5372T>C (p.Leu1791Ser) c.4415T>C (p.Leu1472Ser) c.4406T>C (p.Leu1469Ser) | |
| 5 | g.37038662T>G | CA359498233 | NIPBL | c.6032T>G (p.Leu2011Ter) c.1-25916T>G (n.1-25916T>G) c.5288T>G (p.Leu1763Ter) c.5834T>G (p.Leu1945Ter) c.5651T>G (p.Leu1884Ter) c.5372T>G (p.Leu1791Ter) c.4415T>G (p.Leu1472Ter) c.4406T>G (p.Leu1469Ter) | |
| 5 | g.37038663A= | CA1539611496 | NIPBL | c.6033A= (p.Leu2011=) c.1-25915A= (n.1-25915A=) c.5289A= (p.Leu1763=) c.5835A= (p.Leu1945=) c.5652A= (p.Leu1884=) c.5373A= (p.Leu1791=) c.4416A= (p.Leu1472=) c.4407A= (p.Leu1469=) | |
| 5 | g.37038663A>C | CA359498236 | NIPBL | c.6033A>C (p.Leu2011Phe) c.1-25915A>C (n.1-25915A>C) c.5289A>C (p.Leu1763Phe) c.5835A>C (p.Leu1945Phe) c.5652A>C (p.Leu1884Phe) c.5373A>C (p.Leu1791Phe) c.4416A>C (p.Leu1472Phe) c.4407A>C (p.Leu1469Phe) | |
| 5 | g.37038663A>G | CA443905817 | NIPBL | c.6033A>G (p.Leu2011=) c.1-25915A>G (n.1-25915A>G) c.5289A>G (p.Leu1763=) c.5835A>G (p.Leu1945=) c.5652A>G (p.Leu1884=) c.5373A>G (p.Leu1791=) c.4416A>G (p.Leu1472=) c.4407A>G (p.Leu1469=) | |
| 5 | g.37038663A>T | CA359498241 | NIPBL | c.6033A>T (p.Leu2011Phe) c.1-25915A>T (n.1-25915A>T) c.5289A>T (p.Leu1763Phe) c.5835A>T (p.Leu1945Phe) c.5652A>T (p.Leu1884Phe) c.5373A>T (p.Leu1791Phe) c.4416A>T (p.Leu1472Phe) c.4407A>T (p.Leu1469Phe) | ClinVar dbSNP |
| 5 | g.37038664T>A | CA359498244 | NIPBL | c.6034T>A (p.Phe2012Ile) c.1-25914T>A (n.1-25914T>A) c.5290T>A (p.Phe1764Ile) c.5836T>A (p.Phe1946Ile) c.5653T>A (p.Phe1885Ile) c.5374T>A (p.Phe1792Ile) c.4417T>A (p.Phe1473Ile) c.4408T>A (p.Phe1470Ile) | |
| 5 | g.37038664T>C | CA359498246 | NIPBL | c.6034T>C (p.Phe2012Leu) c.1-25914T>C (n.1-25914T>C) c.5290T>C (p.Phe1764Leu) c.5836T>C (p.Phe1946Leu) c.5653T>C (p.Phe1885Leu) c.5374T>C (p.Phe1792Leu) c.4417T>C (p.Phe1473Leu) c.4408T>C (p.Phe1470Leu) | |
| 5 | g.37038664T>G | CA359498249 | NIPBL | c.6034T>G (p.Phe2012Val) c.1-25914T>G (n.1-25914T>G) c.5290T>G (p.Phe1764Val) c.5836T>G (p.Phe1946Val) c.5653T>G (p.Phe1885Val) c.5374T>G (p.Phe1792Val) c.4417T>G (p.Phe1473Val) c.4408T>G (p.Phe1470Val) | |
| 5 | g.37038665T>A | CA359498253 | NIPBL | c.6035T>A (p.Phe2012Tyr) c.1-25913T>A (n.1-25913T>A) c.5291T>A (p.Phe1764Tyr) c.5837T>A (p.Phe1946Tyr) c.5654T>A (p.Phe1885Tyr) c.5375T>A (p.Phe1792Tyr) c.4418T>A (p.Phe1473Tyr) c.4409T>A (p.Phe1470Tyr) | |
| 5 | g.37038665T>C | CA359498256 | NIPBL | c.6035T>C (p.Phe2012Ser) c.1-25913T>C (n.1-25913T>C) c.5291T>C (p.Phe1764Ser) c.5837T>C (p.Phe1946Ser) c.5654T>C (p.Phe1885Ser) c.5375T>C (p.Phe1792Ser) c.4418T>C (p.Phe1473Ser) c.4409T>C (p.Phe1470Ser) | COSMIC COSMIC |
| 5 | g.37038665T>G | CA359498261 | NIPBL | c.6035T>G (p.Phe2012Cys) c.1-25913T>G (n.1-25913T>G) c.5291T>G (p.Phe1764Cys) c.5837T>G (p.Phe1946Cys) c.5654T>G (p.Phe1885Cys) c.5375T>G (p.Phe1792Cys) c.4418T>G (p.Phe1473Cys) c.4409T>G (p.Phe1470Cys) | |
| 5 | g.37038666C>A | CA359498266 | NIPBL | c.6036C>A (p.Phe2012Leu) c.1-25912C>A (n.1-25912C>A) c.5292C>A (p.Phe1764Leu) c.5838C>A (p.Phe1946Leu) c.5655C>A (p.Phe1885Leu) c.5376C>A (p.Phe1792Leu) c.4419C>A (p.Phe1473Leu) c.4410C>A (p.Phe1470Leu) | |
| 5 | g.37038666C>G | CA359498267 | NIPBL | c.6036C>G (p.Phe2012Leu) c.1-25912C>G (n.1-25912C>G) c.5292C>G (p.Phe1764Leu) c.5838C>G (p.Phe1946Leu) c.5655C>G (p.Phe1885Leu) c.5376C>G (p.Phe1792Leu) c.4419C>G (p.Phe1473Leu) c.4410C>G (p.Phe1470Leu) | |
| 5 | g.37038666C>T | CA443905818 | NIPBL | c.6036C>T (p.Phe2012=) c.1-25912C>T (n.1-25912C>T) c.5292C>T (p.Phe1764=) c.5838C>T (p.Phe1946=) c.5655C>T (p.Phe1885=) c.5376C>T (p.Phe1792=) c.4419C>T (p.Phe1473=) c.4410C>T (p.Phe1470=) | |
| 5 | g.37038667A= | CA1539611498 | NIPBL | c.6037A= (p.Ser2013=) c.1-25911A= (n.1-25911A=) c.5293A= (p.Ser1765=) c.5839A= (p.Ser1947=) c.5656A= (p.Ser1886=) c.5377A= (p.Ser1793=) c.4420A= (p.Ser1474=) c.4411A= (p.Ser1471=) | |
| 5 | g.37038667A>C | CA272183 | NIPBL | c.6037A>C (p.Ser2013Arg) c.1-25911A>C (n.1-25911A>C) c.5293A>C (p.Ser1765Arg) c.5839A>C (p.Ser1947Arg) c.5656A>C (p.Ser1886Arg) c.5377A>C (p.Ser1793Arg) c.4420A>C (p.Ser1474Arg) c.4411A>C (p.Ser1471Arg) | ClinVar dbSNP |
| 5 | g.37038667A>G | CA359498269 | NIPBL | c.6037A>G (p.Ser2013Gly) c.1-25911A>G (n.1-25911A>G) c.5293A>G (p.Ser1765Gly) c.5839A>G (p.Ser1947Gly) c.5656A>G (p.Ser1886Gly) c.5377A>G (p.Ser1793Gly) c.4420A>G (p.Ser1474Gly) c.4411A>G (p.Ser1471Gly) | |
| 5 | g.37038667A>T | CA359498268 | NIPBL | c.6037A>T (p.Ser2013Cys) c.1-25911A>T (n.1-25911A>T) c.5293A>T (p.Ser1765Cys) c.5839A>T (p.Ser1947Cys) c.5656A>T (p.Ser1886Cys) c.5377A>T (p.Ser1793Cys) c.4420A>T (p.Ser1474Cys) c.4411A>T (p.Ser1471Cys) | |
| 5 | g.37038668G>A | CA359498276 | NIPBL | c.6038G>A (p.Ser2013Asn) c.1-25910G>A (n.1-25910G>A) c.5294G>A (p.Ser1765Asn) c.5840G>A (p.Ser1947Asn) c.5657G>A (p.Ser1886Asn) c.5378G>A (p.Ser1793Asn) c.4421G>A (p.Ser1474Asn) c.4412G>A (p.Ser1471Asn) | ClinVar dbSNP |
| 5 | g.37038668G>C | CA359498286 | NIPBL | c.6038G>C (p.Ser2013Thr) c.1-25910G>C (n.1-25910G>C) c.5294G>C (p.Ser1765Thr) c.5840G>C (p.Ser1947Thr) c.5657G>C (p.Ser1886Thr) c.5378G>C (p.Ser1793Thr) c.4421G>C (p.Ser1474Thr) c.4412G>C (p.Ser1471Thr) | |
| 5 | g.37038668G= | CA1539611500 | NIPBL | c.6038G= (p.Ser2013=) c.1-25910G= (n.1-25910G=) c.5294G= (p.Ser1765=) c.5840G= (p.Ser1947=) c.5657G= (p.Ser1886=) c.5378G= (p.Ser1793=) c.4421G= (p.Ser1474=) c.4412G= (p.Ser1471=) | |
| 5 | g.37038668G>T | CA359498281 | NIPBL | c.6038G>T (p.Ser2013Ile) c.1-25910G>T (n.1-25910G>T) c.5294G>T (p.Ser1765Ile) c.5840G>T (p.Ser1947Ile) c.5657G>T (p.Ser1886Ile) c.5378G>T (p.Ser1793Ile) c.4421G>T (p.Ser1474Ile) c.4412G>T (p.Ser1471Ile) | |
| 5 | g.37038669C>A | CA359498287 | NIPBL | c.6039C>A (p.Ser2013Arg) c.1-25909C>A (n.1-25909C>A) c.5295C>A (p.Ser1765Arg) c.5841C>A (p.Ser1947Arg) c.5658C>A (p.Ser1886Arg) c.5379C>A (p.Ser1793Arg) c.4422C>A (p.Ser1474Arg) c.4413C>A (p.Ser1471Arg) | |
| 5 | g.37038669C>G | CA359498288 | NIPBL | c.6039C>G (p.Ser2013Arg) c.1-25909C>G (n.1-25909C>G) c.5295C>G (p.Ser1765Arg) c.5841C>G (p.Ser1947Arg) c.5658C>G (p.Ser1886Arg) c.5379C>G (p.Ser1793Arg) c.4422C>G (p.Ser1474Arg) c.4413C>G (p.Ser1471Arg) | |
| 5 | g.37038669C>T | CA443905819 | NIPBL | c.6039C>T (p.Ser2013=) c.1-25909C>T (n.1-25909C>T) c.5295C>T (p.Ser1765=) c.5841C>T (p.Ser1947=) c.5658C>T (p.Ser1886=) c.5379C>T (p.Ser1793=) c.4422C>T (p.Ser1474=) c.4413C>T (p.Ser1471=) | |
| 5 | g.37038670A>C | CA359498291 | NIPBL | c.6040A>C (p.Lys2014Gln) c.1-25908A>C (n.1-25908A>C) c.5296A>C (p.Lys1766Gln) c.5842A>C (p.Lys1948Gln) c.5659A>C (p.Lys1887Gln) c.5380A>C (p.Lys1794Gln) c.4423A>C (p.Lys1475Gln) c.4414A>C (p.Lys1472Gln) | |
| 5 | g.37038670A>G | CA359498292 | NIPBL | c.6040A>G (p.Lys2014Glu) c.1-25908A>G (n.1-25908A>G) c.5296A>G (p.Lys1766Glu) c.5842A>G (p.Lys1948Glu) c.5659A>G (p.Lys1887Glu) c.5380A>G (p.Lys1794Glu) c.4423A>G (p.Lys1475Glu) c.4414A>G (p.Lys1472Glu) | |
| 5 | g.37038670A>T | CA359498296 | NIPBL | c.6040A>T (p.Lys2014Ter) c.1-25908A>T (n.1-25908A>T) c.5296A>T (p.Lys1766Ter) c.5842A>T (p.Lys1948Ter) c.5659A>T (p.Lys1887Ter) c.5380A>T (p.Lys1794Ter) c.4423A>T (p.Lys1475Ter) c.4414A>T (p.Lys1472Ter) | |
| 5 | g.37038671A>C | CA359498303 | NIPBL | c.6041A>C (p.Lys2014Thr) c.1-25907A>C (n.1-25907A>C) c.5297A>C (p.Lys1766Thr) c.5843A>C (p.Lys1948Thr) c.5660A>C (p.Lys1887Thr) c.5381A>C (p.Lys1794Thr) c.4424A>C (p.Lys1475Thr) c.4415A>C (p.Lys1472Thr) | |
| 5 | g.37038671A>G | CA359498305 | NIPBL | c.6041A>G (p.Lys2014Arg) c.1-25907A>G (n.1-25907A>G) c.5297A>G (p.Lys1766Arg) c.5843A>G (p.Lys1948Arg) c.5660A>G (p.Lys1887Arg) c.5381A>G (p.Lys1794Arg) c.4424A>G (p.Lys1475Arg) c.4415A>G (p.Lys1472Arg) | |
| 5 | g.37038671A>T | CA359498310 | NIPBL | c.6041A>T (p.Lys2014Ile) c.1-25907A>T (n.1-25907A>T) c.5297A>T (p.Lys1766Ile) c.5843A>T (p.Lys1948Ile) c.5660A>T (p.Lys1887Ile) c.5381A>T (p.Lys1794Ile) c.4424A>T (p.Lys1475Ile) c.4415A>T (p.Lys1472Ile) | |
| 5 | g.37038672A>C | CA359498315 | NIPBL | c.6042A>C (p.Lys2014Asn) c.1-25906A>C (n.1-25906A>C) c.5298A>C (p.Lys1766Asn) c.5844A>C (p.Lys1948Asn) c.5661A>C (p.Lys1887Asn) c.5382A>C (p.Lys1794Asn) c.4425A>C (p.Lys1475Asn) c.4416A>C (p.Lys1472Asn) | |
| 5 | g.37038672A>G | CA443905820 | NIPBL | c.6042A>G (p.Lys2014=) c.1-25906A>G (n.1-25906A>G) c.5298A>G (p.Lys1766=) c.5844A>G (p.Lys1948=) c.5661A>G (p.Lys1887=) c.5382A>G (p.Lys1794=) c.4425A>G (p.Lys1475=) c.4416A>G (p.Lys1472=) | COSMIC COSMIC |
| 5 | g.37038672A>T | CA359498318 | NIPBL | c.6042A>T (p.Lys2014Asn) c.1-25906A>T (n.1-25906A>T) c.5298A>T (p.Lys1766Asn) c.5844A>T (p.Lys1948Asn) c.5661A>T (p.Lys1887Asn) c.5382A>T (p.Lys1794Asn) c.4425A>T (p.Lys1475Asn) c.4416A>T (p.Lys1472Asn) | |
| 5 | g.37038673A>C | CA359498324 | NIPBL | c.6043A>C (p.Ile2015Leu) c.1-25905A>C (n.1-25905A>C) c.5299A>C (p.Ile1767Leu) c.5845A>C (p.Ile1949Leu) c.5662A>C (p.Ile1888Leu) c.5383A>C (p.Ile1795Leu) c.4426A>C (p.Ile1476Leu) c.4417A>C (p.Ile1473Leu) | |
| 5 | g.37038673A>G | CA359498327 | NIPBL | c.6043A>G (p.Ile2015Val) c.1-25905A>G (n.1-25905A>G) c.5299A>G (p.Ile1767Val) c.5845A>G (p.Ile1949Val) c.5662A>G (p.Ile1888Val) c.5383A>G (p.Ile1795Val) c.4426A>G (p.Ile1476Val) c.4417A>G (p.Ile1473Val) | COSMIC COSMIC |
| 5 | g.37038673A>T | CA359498331 | NIPBL | c.6043A>T (p.Ile2015Leu) c.1-25905A>T (n.1-25905A>T) c.5299A>T (p.Ile1767Leu) c.5845A>T (p.Ile1949Leu) c.5662A>T (p.Ile1888Leu) c.5383A>T (p.Ile1795Leu) c.4426A>T (p.Ile1476Leu) c.4417A>T (p.Ile1473Leu) | |
| 5 | g.37038674T>A | CA359498342 | NIPBL | c.6044T>A (p.Ile2015Lys) c.1-25904T>A (n.1-25904T>A) c.5300T>A (p.Ile1767Lys) c.5846T>A (p.Ile1949Lys) c.5663T>A (p.Ile1888Lys) c.5384T>A (p.Ile1795Lys) c.4427T>A (p.Ile1476Lys) c.4418T>A (p.Ile1473Lys) | |
| 5 | g.37038674T>C | CA359498339 | NIPBL | c.6044T>C (p.Ile2015Thr) c.1-25904T>C (n.1-25904T>C) c.5300T>C (p.Ile1767Thr) c.5846T>C (p.Ile1949Thr) c.5663T>C (p.Ile1888Thr) c.5384T>C (p.Ile1795Thr) c.4427T>C (p.Ile1476Thr) c.4418T>C (p.Ile1473Thr) | |
| 5 | g.37038674T>G | CA359498336 | NIPBL | c.6044T>G (p.Ile2015Arg) c.1-25904T>G (n.1-25904T>G) c.5300T>G (p.Ile1767Arg) c.5846T>G (p.Ile1949Arg) c.5663T>G (p.Ile1888Arg) c.5384T>G (p.Ile1795Arg) c.4427T>G (p.Ile1476Arg) c.4418T>G (p.Ile1473Arg) | |
| 5 | g.37038675A>C | CA443905821 | NIPBL | c.6045A>C (p.Ile2015=) c.1-25903A>C (n.1-25903A>C) c.5301A>C (p.Ile1767=) c.5847A>C (p.Ile1949=) c.5664A>C (p.Ile1888=) c.5385A>C (p.Ile1795=) c.4428A>C (p.Ile1476=) c.4419A>C (p.Ile1473=) | |
| 5 | g.37038675A>G | CA359498347 | NIPBL | c.6045A>G (p.Ile2015Met) c.1-25903A>G (n.1-25903A>G) c.5301A>G (p.Ile1767Met) c.5847A>G (p.Ile1949Met) c.5664A>G (p.Ile1888Met) c.5385A>G (p.Ile1795Met) c.4428A>G (p.Ile1476Met) c.4419A>G (p.Ile1473Met) | gnomAD v4 |
| 5 | g.37038675A>T | CA443905822 | NIPBL | c.6045A>T (p.Ile2015=) c.1-25903A>T (n.1-25903A>T) c.5301A>T (p.Ile1767=) c.5847A>T (p.Ile1949=) c.5664A>T (p.Ile1888=) c.5385A>T (p.Ile1795=) c.4428A>T (p.Ile1476=) c.4419A>T (p.Ile1473=) | |
| 5 | g.37038676A>C | CA443905823 | NIPBL | c.6046A>C (p.Arg2016=) c.1-25902A>C (n.1-25902A>C) c.5302A>C (p.Arg1768=) c.5848A>C (p.Arg1950=) c.5665A>C (p.Arg1889=) c.5386A>C (p.Arg1796=) c.4429A>C (p.Arg1477=) c.4420A>C (p.Arg1474=) | gnomAD v4 |
| 5 | g.37038676A>G | CA359498355 | NIPBL | c.6046A>G (p.Arg2016Gly) c.1-25902A>G (n.1-25902A>G) c.5302A>G (p.Arg1768Gly) c.5848A>G (p.Arg1950Gly) c.5665A>G (p.Arg1889Gly) c.5386A>G (p.Arg1796Gly) c.4429A>G (p.Arg1477Gly) c.4420A>G (p.Arg1474Gly) | |
| 5 | g.37038676A>T | CA359498358 | NIPBL | c.6046A>T (p.Arg2016Ter) c.1-25902A>T (n.1-25902A>T) c.5302A>T (p.Arg1768Ter) c.5848A>T (p.Arg1950Ter) c.5665A>T (p.Arg1889Ter) c.5386A>T (p.Arg1796Ter) c.4429A>T (p.Arg1477Ter) c.4420A>T (p.Arg1474Ter) | |
| 5 | g.37038677G>A | CA359498362 | NIPBL | c.6047G>A (p.Arg2016Lys) c.1-25901G>A (n.1-25901G>A) c.5303G>A (p.Arg1768Lys) c.5849G>A (p.Arg1950Lys) c.5666G>A (p.Arg1889Lys) c.5387G>A (p.Arg1796Lys) c.4430G>A (p.Arg1477Lys) c.4421G>A (p.Arg1474Lys) | |
| 5 | g.37038677G>C | CA359498363 | NIPBL | c.6047G>C (p.Arg2016Thr) c.1-25901G>C (n.1-25901G>C) c.5303G>C (p.Arg1768Thr) c.5849G>C (p.Arg1950Thr) c.5666G>C (p.Arg1889Thr) c.5387G>C (p.Arg1796Thr) c.4430G>C (p.Arg1477Thr) c.4421G>C (p.Arg1474Thr) | |
| 5 | g.37038677G>T | CA359498364 | NIPBL | c.6047G>T (p.Arg2016Ile) c.1-25901G>T (n.1-25901G>T) c.5303G>T (p.Arg1768Ile) c.5849G>T (p.Arg1950Ile) c.5666G>T (p.Arg1889Ile) c.5387G>T (p.Arg1796Ile) c.4430G>T (p.Arg1477Ile) c.4421G>T (p.Arg1474Ile) | |
| 5 | g.37038678A>C | CA359498365 | NIPBL | c.6048A>C (p.Arg2016Ser) c.1-25900A>C (n.1-25900A>C) c.5304A>C (p.Arg1768Ser) c.5850A>C (p.Arg1950Ser) c.5667A>C (p.Arg1889Ser) c.5388A>C (p.Arg1796Ser) c.4431A>C (p.Arg1477Ser) c.4422A>C (p.Arg1474Ser) | |
| 5 | g.37038678A>G | CA443905824 | NIPBL | c.6048A>G (p.Arg2016=) c.1-25900A>G (n.1-25900A>G) c.5304A>G (p.Arg1768=) c.5850A>G (p.Arg1950=) c.5667A>G (p.Arg1889=) c.5388A>G (p.Arg1796=) c.4431A>G (p.Arg1477=) c.4422A>G (p.Arg1474=) | |
| 5 | g.37038678A>T | CA359498368 | NIPBL | c.6048A>T (p.Arg2016Ser) c.1-25900A>T (n.1-25900A>T) c.5304A>T (p.Arg1768Ser) c.5850A>T (p.Arg1950Ser) c.5667A>T (p.Arg1889Ser) c.5388A>T (p.Arg1796Ser) c.4431A>T (p.Arg1477Ser) c.4422A>T (p.Arg1474Ser) | |
| 5 | g.37038679C>A | CA359498370 | NIPBL | c.6049C>A (p.Pro2017Thr) c.1-25899C>A (n.1-25899C>A) c.5305C>A (p.Pro1769Thr) c.5851C>A (p.Pro1951Thr) c.5668C>A (p.Pro1890Thr) c.5389C>A (p.Pro1797Thr) c.4432C>A (p.Pro1478Thr) c.4423C>A (p.Pro1475Thr) | |
| 5 | g.37038679C>G | CA359498376 | NIPBL | c.6049C>G (p.Pro2017Ala) c.1-25899C>G (n.1-25899C>G) c.5305C>G (p.Pro1769Ala) c.5851C>G (p.Pro1951Ala) c.5668C>G (p.Pro1890Ala) c.5389C>G (p.Pro1797Ala) c.4432C>G (p.Pro1478Ala) c.4423C>G (p.Pro1475Ala) | |
| 5 | g.37038679C>T | CA359498379 | NIPBL | c.6049C>T (p.Pro2017Ser) c.1-25899C>T (n.1-25899C>T) c.5305C>T (p.Pro1769Ser) c.5851C>T (p.Pro1951Ser) c.5668C>T (p.Pro1890Ser) c.5389C>T (p.Pro1797Ser) c.4432C>T (p.Pro1478Ser) c.4423C>T (p.Pro1475Ser) | |
| 5 | g.37038680C>A | CA359498406 | NIPBL | c.6050C>A (p.Pro2017His) c.1-25898C>A (n.1-25898C>A) c.5306C>A (p.Pro1769His) c.5852C>A (p.Pro1951His) c.5669C>A (p.Pro1890His) c.5390C>A (p.Pro1797His) c.4433C>A (p.Pro1478His) c.4424C>A (p.Pro1475His) | |
| 5 | g.37038680C>G | CA359498402 | NIPBL | c.6050C>G (p.Pro2017Arg) c.1-25898C>G (n.1-25898C>G) c.5306C>G (p.Pro1769Arg) c.5852C>G (p.Pro1951Arg) c.5669C>G (p.Pro1890Arg) c.5390C>G (p.Pro1797Arg) c.4433C>G (p.Pro1478Arg) c.4424C>G (p.Pro1475Arg) | |
| 5 | g.37038680C>T | CA359498393 | NIPBL | c.6050C>T (p.Pro2017Leu) c.1-25898C>T (n.1-25898C>T) c.5306C>T (p.Pro1769Leu) c.5852C>T (p.Pro1951Leu) c.5669C>T (p.Pro1890Leu) c.5390C>T (p.Pro1797Leu) c.4433C>T (p.Pro1478Leu) c.4424C>T (p.Pro1475Leu) | |
| 5 | g.37038681C>A | CA443905826 | NIPBL | c.6051C>A (p.Pro2017=) c.1-25897C>A (n.1-25897C>A) c.5307C>A (p.Pro1769=) c.5853C>A (p.Pro1951=) c.5670C>A (p.Pro1890=) c.5391C>A (p.Pro1797=) c.4434C>A (p.Pro1478=) c.4425C>A (p.Pro1475=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038681C= | CA1539611504 | NIPBL | c.6051C= (p.Pro2017=) c.1-25897C= (n.1-25897C=) c.5307C= (p.Pro1769=) c.5853C= (p.Pro1951=) c.5670C= (p.Pro1890=) c.5391C= (p.Pro1797=) c.4434C= (p.Pro1478=) c.4425C= (p.Pro1475=) | |
| 5 | g.37038681C>G | CA117038359 | NIPBL | c.6051C>G (p.Pro2017=) c.1-25897C>G (n.1-25897C>G) c.5307C>G (p.Pro1769=) c.5853C>G (p.Pro1951=) c.5670C>G (p.Pro1890=) c.5391C>G (p.Pro1797=) c.4434C>G (p.Pro1478=) c.4425C>G (p.Pro1475=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37038681C>T | CA443905827 | NIPBL | c.6051C>T (p.Pro2017=) c.1-25897C>T (n.1-25897C>T) c.5307C>T (p.Pro1769=) c.5853C>T (p.Pro1951=) c.5670C>T (p.Pro1890=) c.5391C>T (p.Pro1797=) c.4434C>T (p.Pro1478=) c.4425C>T (p.Pro1475=) | |
| 5 | g.37038682C>A | CA359498410 | NIPBL | c.6052C>A (p.Gln2018Lys) c.1-25896C>A (n.1-25896C>A) c.5308C>A (p.Gln1770Lys) c.5854C>A (p.Gln1952Lys) c.5671C>A (p.Gln1891Lys) c.5392C>A (p.Gln1798Lys) c.4435C>A (p.Gln1479Lys) c.4426C>A (p.Gln1476Lys) | |
| 5 | g.37038682C>G | CA359498412 | NIPBL | c.6052C>G (p.Gln2018Glu) c.1-25896C>G (n.1-25896C>G) c.5308C>G (p.Gln1770Glu) c.5854C>G (p.Gln1952Glu) c.5671C>G (p.Gln1891Glu) c.5392C>G (p.Gln1798Glu) c.4435C>G (p.Gln1479Glu) c.4426C>G (p.Gln1476Glu) | |
| 5 | g.37038682C>T | CA359498415 | NIPBL | c.6052C>T (p.Gln2018Ter) c.1-25896C>T (n.1-25896C>T) c.5308C>T (p.Gln1770Ter) c.5854C>T (p.Gln1952Ter) c.5671C>T (p.Gln1891Ter) c.5392C>T (p.Gln1798Ter) c.4435C>T (p.Gln1479Ter) c.4426C>T (p.Gln1476Ter) | |
| 5 | g.37038683A>C | CA359498419 | NIPBL | c.6053A>C (p.Gln2018Pro) c.1-25895A>C (n.1-25895A>C) c.5309A>C (p.Gln1770Pro) c.5855A>C (p.Gln1952Pro) c.5672A>C (p.Gln1891Pro) c.5393A>C (p.Gln1798Pro) c.4436A>C (p.Gln1479Pro) c.4427A>C (p.Gln1476Pro) | |
| 5 | g.37038683A>G | CA359498422 | NIPBL | c.6053A>G (p.Gln2018Arg) c.1-25895A>G (n.1-25895A>G) c.5309A>G (p.Gln1770Arg) c.5855A>G (p.Gln1952Arg) c.5672A>G (p.Gln1891Arg) c.5393A>G (p.Gln1798Arg) c.4436A>G (p.Gln1479Arg) c.4427A>G (p.Gln1476Arg) | |
| 5 | g.37038683A>T | CA359498426 | NIPBL | c.6053A>T (p.Gln2018Leu) c.1-25895A>T (n.1-25895A>T) c.5309A>T (p.Gln1770Leu) c.5855A>T (p.Gln1952Leu) c.5672A>T (p.Gln1891Leu) c.5393A>T (p.Gln1798Leu) c.4436A>T (p.Gln1479Leu) c.4427A>T (p.Gln1476Leu) | |
| 5 | g.37038684G>A | CA443905828 | NIPBL | c.6054G>A (p.Gln2018=) c.1-25894G>A (n.1-25894G>A) c.5310G>A (p.Gln1770=) c.5856G>A (p.Gln1952=) c.5673G>A (p.Gln1891=) c.5394G>A (p.Gln1798=) c.4437G>A (p.Gln1479=) c.4428G>A (p.Gln1476=) | |
| 5 | g.37038684G>C | CA359498447 | NIPBL | c.6054G>C (p.Gln2018His) c.1-25894G>C (n.1-25894G>C) c.5310G>C (p.Gln1770His) c.5856G>C (p.Gln1952His) c.5673G>C (p.Gln1891His) c.5394G>C (p.Gln1798His) c.4437G>C (p.Gln1479His) c.4428G>C (p.Gln1476His) | |
| 5 | g.37038684G>T | CA359498456 | NIPBL | c.6054G>T (p.Gln2018His) c.1-25894G>T (n.1-25894G>T) c.5310G>T (p.Gln1770His) c.5856G>T (p.Gln1952His) c.5673G>T (p.Gln1891His) c.5394G>T (p.Gln1798His) c.4437G>T (p.Gln1479His) c.4428G>T (p.Gln1476His) | |
| 5 | g.37038685C>A | CA359498459 | NIPBL | c.6055C>A (p.Leu2019Ile) c.1-25893C>A (n.1-25893C>A) c.5311C>A (p.Leu1771Ile) c.5857C>A (p.Leu1953Ile) c.5674C>A (p.Leu1892Ile) c.5395C>A (p.Leu1799Ile) c.4438C>A (p.Leu1480Ile) c.4429C>A (p.Leu1477Ile) | |
| 5 | g.37038685C>G | CA359498464 | NIPBL | c.6055C>G (p.Leu2019Val) c.1-25893C>G (n.1-25893C>G) c.5311C>G (p.Leu1771Val) c.5857C>G (p.Leu1953Val) c.5674C>G (p.Leu1892Val) c.5395C>G (p.Leu1799Val) c.4438C>G (p.Leu1480Val) c.4429C>G (p.Leu1477Val) | |
| 5 | g.37038685C>T | CA359498473 | NIPBL | c.6055C>T (p.Leu2019Phe) c.1-25893C>T (n.1-25893C>T) c.5311C>T (p.Leu1771Phe) c.5857C>T (p.Leu1953Phe) c.5674C>T (p.Leu1892Phe) c.5395C>T (p.Leu1799Phe) c.4438C>T (p.Leu1480Phe) c.4429C>T (p.Leu1477Phe) | |
| 5 | g.37038686T>A | CA359498488 | NIPBL | c.6056T>A (p.Leu2019His) c.1-25892T>A (n.1-25892T>A) c.5312T>A (p.Leu1771His) c.5858T>A (p.Leu1953His) c.5675T>A (p.Leu1892His) c.5396T>A (p.Leu1799His) c.4439T>A (p.Leu1480His) c.4430T>A (p.Leu1477His) | |
| 5 | g.37038686T>C | CA359498484 | NIPBL | c.6056T>C (p.Leu2019Pro) c.1-25892T>C (n.1-25892T>C) c.5312T>C (p.Leu1771Pro) c.5858T>C (p.Leu1953Pro) c.5675T>C (p.Leu1892Pro) c.5396T>C (p.Leu1799Pro) c.4439T>C (p.Leu1480Pro) c.4430T>C (p.Leu1477Pro) | |
| 5 | g.37038686T>G | CA359498481 | NIPBL | c.6056T>G (p.Leu2019Arg) c.1-25892T>G (n.1-25892T>G) c.5312T>G (p.Leu1771Arg) c.5858T>G (p.Leu1953Arg) c.5675T>G (p.Leu1892Arg) c.5396T>G (p.Leu1799Arg) c.4439T>G (p.Leu1480Arg) c.4430T>G (p.Leu1477Arg) | |
| 5 | g.37038687C>A | CA443905829 | NIPBL | c.6057C>A (p.Leu2019=) c.1-25891C>A (n.1-25891C>A) c.5313C>A (p.Leu1771=) c.5859C>A (p.Leu1953=) c.5676C>A (p.Leu1892=) c.5397C>A (p.Leu1799=) c.4440C>A (p.Leu1480=) c.4431C>A (p.Leu1477=) | |
| 5 | g.37038687C= | CA1539611507 | NIPBL | c.6057C= (p.Leu2019=) c.1-25891C= (n.1-25891C=) c.5313C= (p.Leu1771=) c.5859C= (p.Leu1953=) c.5676C= (p.Leu1892=) c.5397C= (p.Leu1799=) c.4440C= (p.Leu1480=) c.4431C= (p.Leu1477=) | |
| 5 | g.37038687C>G | CA443905830 | NIPBL | c.6057C>G (p.Leu2019=) c.1-25891C>G (n.1-25891C>G) c.5313C>G (p.Leu1771=) c.5859C>G (p.Leu1953=) c.5676C>G (p.Leu1892=) c.5397C>G (p.Leu1799=) c.4440C>G (p.Leu1480=) c.4431C>G (p.Leu1477=) | |
| 5 | g.37038687C>T | CA179886 | NIPBL | c.6057C>T (p.Leu2019=) c.1-25891C>T (n.1-25891C>T) c.5313C>T (p.Leu1771=) c.5859C>T (p.Leu1953=) c.5676C>T (p.Leu1892=) c.5397C>T (p.Leu1799=) c.4440C>T (p.Leu1480=) c.4431C>T (p.Leu1477=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.37038688A>C | CA359498496 | NIPBL | c.6058A>C (p.Met2020Leu) c.1-25890A>C (n.1-25890A>C) c.5314A>C (p.Met1772Leu) c.5860A>C (p.Met1954Leu) c.5677A>C (p.Met1893Leu) c.5398A>C (p.Met1800Leu) c.4441A>C (p.Met1481Leu) c.4432A>C (p.Met1478Leu) | gnomAD v4 |
| 5 | g.37038688A>G | CA359498498 | NIPBL | c.6058A>G (p.Met2020Val) c.1-25890A>G (n.1-25890A>G) c.5314A>G (p.Met1772Val) c.5860A>G (p.Met1954Val) c.5677A>G (p.Met1893Val) c.5398A>G (p.Met1800Val) c.4441A>G (p.Met1481Val) c.4432A>G (p.Met1478Val) | gnomAD v4 |
| 5 | g.37038688A>T | CA359498502 | NIPBL | c.6058A>T (p.Met2020Leu) c.1-25890A>T (n.1-25890A>T) c.5314A>T (p.Met1772Leu) c.5860A>T (p.Met1954Leu) c.5677A>T (p.Met1893Leu) c.5398A>T (p.Met1800Leu) c.4441A>T (p.Met1481Leu) c.4432A>T (p.Met1478Leu) | |
| 5 | g.37038689T>A | CA359498505 | NIPBL | c.6059T>A (p.Met2020Lys) c.1-25889T>A (n.1-25889T>A) c.5315T>A (p.Met1772Lys) c.5861T>A (p.Met1954Lys) c.5678T>A (p.Met1893Lys) c.5399T>A (p.Met1800Lys) c.4442T>A (p.Met1481Lys) c.4433T>A (p.Met1478Lys) | |
| 5 | g.37038689T>C | CA359498508 | NIPBL | c.6059T>C (p.Met2020Thr) c.1-25889T>C (n.1-25889T>C) c.5315T>C (p.Met1772Thr) c.5861T>C (p.Met1954Thr) c.5678T>C (p.Met1893Thr) c.5399T>C (p.Met1800Thr) c.4442T>C (p.Met1481Thr) c.4433T>C (p.Met1478Thr) | |
| 5 | g.37038689T>G | CA359498511 | NIPBL | c.6059T>G (p.Met2020Arg) c.1-25889T>G (n.1-25889T>G) c.5315T>G (p.Met1772Arg) c.5861T>G (p.Met1954Arg) c.5678T>G (p.Met1893Arg) c.5399T>G (p.Met1800Arg) c.4442T>G (p.Met1481Arg) c.4433T>G (p.Met1478Arg) | |
| 5 | g.37038690G>A | CA359498521 | NIPBL | c.6060G>A (p.Met2020Ile) c.1-25888G>A (n.1-25888G>A) c.5316G>A (p.Met1772Ile) c.5862G>A (p.Met1954Ile) c.5679G>A (p.Met1893Ile) c.5400G>A (p.Met1800Ile) c.4443G>A (p.Met1481Ile) c.4434G>A (p.Met1478Ile) | |
| 5 | g.37038690G>C | CA359498525 | NIPBL | c.6060G>C (p.Met2020Ile) c.1-25888G>C (n.1-25888G>C) c.5316G>C (p.Met1772Ile) c.5862G>C (p.Met1954Ile) c.5679G>C (p.Met1893Ile) c.5400G>C (p.Met1800Ile) c.4443G>C (p.Met1481Ile) c.4434G>C (p.Met1478Ile) | |
| 5 | g.37038690G>T | CA359498528 | NIPBL | c.6060G>T (p.Met2020Ile) c.1-25888G>T (n.1-25888G>T) c.5316G>T (p.Met1772Ile) c.5862G>T (p.Met1954Ile) c.5679G>T (p.Met1893Ile) c.5400G>T (p.Met1800Ile) c.4443G>T (p.Met1481Ile) c.4434G>T (p.Met1478Ile) | |
| 5 | g.37038691G>A | CA359498534 | NIPBL | c.6061G>A (p.Val2021Ile) c.1-25887G>A (n.1-25887G>A) c.5317G>A (p.Val1773Ile) c.5863G>A (p.Val1955Ile) c.5680G>A (p.Val1894Ile) c.5401G>A (p.Val1801Ile) c.4444G>A (p.Val1482Ile) c.4435G>A (p.Val1479Ile) | |
| 5 | g.37038691G>C | CA359498538 | NIPBL | c.6061G>C (p.Val2021Leu) c.1-25887G>C (n.1-25887G>C) c.5317G>C (p.Val1773Leu) c.5863G>C (p.Val1955Leu) c.5680G>C (p.Val1894Leu) c.5401G>C (p.Val1801Leu) c.4444G>C (p.Val1482Leu) c.4435G>C (p.Val1479Leu) | |
| 5 | g.37038691G>T | CA359498541 | NIPBL | c.6061G>T (p.Val2021Phe) c.1-25887G>T (n.1-25887G>T) c.5317G>T (p.Val1773Phe) c.5863G>T (p.Val1955Phe) c.5680G>T (p.Val1894Phe) c.5401G>T (p.Val1801Phe) c.4444G>T (p.Val1482Phe) c.4435G>T (p.Val1479Phe) | |
| 5 | g.37038692T>A | CA359498551 | NIPBL | c.6062T>A (p.Val2021Asp) c.1-25886T>A (n.1-25886T>A) c.5318T>A (p.Val1773Asp) c.5864T>A (p.Val1955Asp) c.5681T>A (p.Val1894Asp) c.5402T>A (p.Val1801Asp) c.4445T>A (p.Val1482Asp) c.4436T>A (p.Val1479Asp) | |
| 5 | g.37038692T>C | CA359498556 | NIPBL | c.6062T>C (p.Val2021Ala) c.1-25886T>C (n.1-25886T>C) c.5318T>C (p.Val1773Ala) c.5864T>C (p.Val1955Ala) c.5681T>C (p.Val1894Ala) c.5402T>C (p.Val1801Ala) c.4445T>C (p.Val1482Ala) c.4436T>C (p.Val1479Ala) | |
| 5 | g.37038692T>G | CA359498547 | NIPBL | c.6062T>G (p.Val2021Gly) c.1-25886T>G (n.1-25886T>G) c.5318T>G (p.Val1773Gly) c.5864T>G (p.Val1955Gly) c.5681T>G (p.Val1894Gly) c.5402T>G (p.Val1801Gly) c.4445T>G (p.Val1482Gly) c.4436T>G (p.Val1479Gly) | |
| 5 | g.37038693T>A | CA443905834 | NIPBL | c.6063T>A (p.Val2021=) c.1-25885T>A (n.1-25885T>A) c.5319T>A (p.Val1773=) c.5865T>A (p.Val1955=) c.5682T>A (p.Val1894=) c.5403T>A (p.Val1801=) c.4446T>A (p.Val1482=) c.4437T>A (p.Val1479=) | |
| 5 | g.37038693T>C | CA443905831 | NIPBL | c.6063T>C (p.Val2021=) c.1-25885T>C (n.1-25885T>C) c.5319T>C (p.Val1773=) c.5865T>C (p.Val1955=) c.5682T>C (p.Val1894=) c.5403T>C (p.Val1801=) c.4446T>C (p.Val1482=) c.4437T>C (p.Val1479=) | |
| 5 | g.37038693T>G | CA443905832 | NIPBL | c.6063T>G (p.Val2021=) c.1-25885T>G (n.1-25885T>G) c.5319T>G (p.Val1773=) c.5865T>G (p.Val1955=) c.5682T>G (p.Val1894=) c.5403T>G (p.Val1801=) c.4446T>G (p.Val1482=) c.4437T>G (p.Val1479=) | |
| 5 | g.37038694_37038699del | CA2695204437 | NIPBL | c.6064_6069del (p.Lys2022_His2023del) c.1-25884_1-25879del (n.1-25884_1-25879del) c.5320_5325del (p.Lys1774_His1775del) c.5866_5871del (p.Lys1956_His1957del) c.5683_5688del (p.Lys1895_His1896del) c.5404_5409del (p.Lys1802_His1803del) c.4447_4452del (p.Lys1483_His1484del) c.4438_4443del (p.Lys1480_His1481del) | |
| 5 | g.37038694A>C | CA359498563 | NIPBL | c.6064A>C (p.Lys2022Gln) c.1-25884A>C (n.1-25884A>C) c.5320A>C (p.Lys1774Gln) c.5866A>C (p.Lys1956Gln) c.5683A>C (p.Lys1895Gln) c.5404A>C (p.Lys1802Gln) c.4447A>C (p.Lys1483Gln) c.4438A>C (p.Lys1480Gln) | |
| 5 | g.37038694A>G | CA359498557 | NIPBL | c.6064A>G (p.Lys2022Glu) c.1-25884A>G (n.1-25884A>G) c.5320A>G (p.Lys1774Glu) c.5866A>G (p.Lys1956Glu) c.5683A>G (p.Lys1895Glu) c.5404A>G (p.Lys1802Glu) c.4447A>G (p.Lys1483Glu) c.4438A>G (p.Lys1480Glu) | |
| 5 | g.37038694A>T | CA359498559 | NIPBL | c.6064A>T (p.Lys2022Ter) c.1-25884A>T (n.1-25884A>T) c.5320A>T (p.Lys1774Ter) c.5866A>T (p.Lys1956Ter) c.5683A>T (p.Lys1895Ter) c.5404A>T (p.Lys1802Ter) c.4447A>T (p.Lys1483Ter) c.4438A>T (p.Lys1480Ter) | |
| 5 | g.37038695A= | CA1539611509 | NIPBL | c.6065A= (p.Lys2022=) c.1-25883A= (n.1-25883A=) c.5321A= (p.Lys1774=) c.5867A= (p.Lys1956=) c.5684A= (p.Lys1895=) c.5405A= (p.Lys1802=) c.4448A= (p.Lys1483=) c.4439A= (p.Lys1480=) | |
| 5 | g.37038695A>C | CA359498571 | NIPBL | c.6065A>C (p.Lys2022Thr) c.1-25883A>C (n.1-25883A>C) c.5321A>C (p.Lys1774Thr) c.5867A>C (p.Lys1956Thr) c.5684A>C (p.Lys1895Thr) c.5405A>C (p.Lys1802Thr) c.4448A>C (p.Lys1483Thr) c.4439A>C (p.Lys1480Thr) | |
| 5 | g.37038695A>G | CA10607000 | NIPBL | c.6065A>G (p.Lys2022Arg) c.1-25883A>G (n.1-25883A>G) c.5321A>G (p.Lys1774Arg) c.5867A>G (p.Lys1956Arg) c.5684A>G (p.Lys1895Arg) c.5405A>G (p.Lys1802Arg) c.4448A>G (p.Lys1483Arg) c.4439A>G (p.Lys1480Arg) | ClinVar dbSNP |
| 5 | g.37038695A>T | CA359498573 | NIPBL | c.6065A>T (p.Lys2022Ile) c.1-25883A>T (n.1-25883A>T) c.5321A>T (p.Lys1774Ile) c.5867A>T (p.Lys1956Ile) c.5684A>T (p.Lys1895Ile) c.5405A>T (p.Lys1802Ile) c.4448A>T (p.Lys1483Ile) c.4439A>T (p.Lys1480Ile) | |
| 5 | g.37038696A>C | CA359498574 | NIPBL | c.6066A>C (p.Lys2022Asn) c.1-25882A>C (n.1-25882A>C) c.5322A>C (p.Lys1774Asn) c.5868A>C (p.Lys1956Asn) c.5685A>C (p.Lys1895Asn) c.5406A>C (p.Lys1802Asn) c.4449A>C (p.Lys1483Asn) c.4440A>C (p.Lys1480Asn) | |
| 5 | g.37038696A>G | CA443905835 | NIPBL | c.6066A>G (p.Lys2022=) c.1-25882A>G (n.1-25882A>G) c.5322A>G (p.Lys1774=) c.5868A>G (p.Lys1956=) c.5685A>G (p.Lys1895=) c.5406A>G (p.Lys1802=) c.4449A>G (p.Lys1483=) c.4440A>G (p.Lys1480=) | |
| 5 | g.37038696A>T | CA359498575 | NIPBL | c.6066A>T (p.Lys2022Asn) c.1-25882A>T (n.1-25882A>T) c.5322A>T (p.Lys1774Asn) c.5868A>T (p.Lys1956Asn) c.5685A>T (p.Lys1895Asn) c.5406A>T (p.Lys1802Asn) c.4449A>T (p.Lys1483Asn) c.4440A>T (p.Lys1480Asn) | |
| 5 | g.37038697C>A | CA272186 | NIPBL | c.6067C>A (p.His2023Asn) c.1-25881C>A (n.1-25881C>A) c.5323C>A (p.His1775Asn) c.5869C>A (p.His1957Asn) c.5686C>A (p.His1896Asn) c.5407C>A (p.His1803Asn) c.4450C>A (p.His1484Asn) c.4441C>A (p.His1481Asn) | ClinVar dbSNP |
| 5 | g.37038697C= | CA1539611513 | NIPBL | c.6067C= (p.His2023=) c.1-25881C= (n.1-25881C=) c.5323C= (p.His1775=) c.5869C= (p.His1957=) c.5686C= (p.His1896=) c.5407C= (p.His1803=) c.4450C= (p.His1484=) c.4441C= (p.His1481=) | |
| 5 | g.37038697C>G | CA359498576 | NIPBL | c.6067C>G (p.His2023Asp) c.1-25881C>G (n.1-25881C>G) c.5323C>G (p.His1775Asp) c.5869C>G (p.His1957Asp) c.5686C>G (p.His1896Asp) c.5407C>G (p.His1803Asp) c.4450C>G (p.His1484Asp) c.4441C>G (p.His1481Asp) | |
| 5 | g.37038697C>T | CA359498579 | NIPBL | c.6067C>T (p.His2023Tyr) c.1-25881C>T (n.1-25881C>T) c.5323C>T (p.His1775Tyr) c.5869C>T (p.His1957Tyr) c.5686C>T (p.His1896Tyr) c.5407C>T (p.His1803Tyr) c.4450C>T (p.His1484Tyr) c.4441C>T (p.His1481Tyr) | dbSNP |
| 5 | g.37038698A= | CA1539611519 | NIPBL | c.6068A= (p.His2023=) c.1-25880A= (n.1-25880A=) c.5324A= (p.His1775=) c.5870A= (p.His1957=) c.5687A= (p.His1896=) c.5408A= (p.His1803=) c.4451A= (p.His1484=) c.4442A= (p.His1481=) | |
| 5 | g.37038698A>C | CA359498593 | NIPBL | c.6068A>C (p.His2023Pro) c.1-25880A>C (n.1-25880A>C) c.5324A>C (p.His1775Pro) c.5870A>C (p.His1957Pro) c.5687A>C (p.His1896Pro) c.5408A>C (p.His1803Pro) c.4451A>C (p.His1484Pro) c.4442A>C (p.His1481Pro) | |
| 5 | g.37038698A>G | CA272189 | NIPBL | c.6068A>G (p.His2023Arg) c.1-25880A>G (n.1-25880A>G) c.5324A>G (p.His1775Arg) c.5870A>G (p.His1957Arg) c.5687A>G (p.His1896Arg) c.5408A>G (p.His1803Arg) c.4451A>G (p.His1484Arg) c.4442A>G (p.His1481Arg) | ClinVar dbSNP |
| 5 | g.37038698A>T | CA359498596 | NIPBL | c.6068A>T (p.His2023Leu) c.1-25880A>T (n.1-25880A>T) c.5324A>T (p.His1775Leu) c.5870A>T (p.His1957Leu) c.5687A>T (p.His1896Leu) c.5408A>T (p.His1803Leu) c.4451A>T (p.His1484Leu) c.4442A>T (p.His1481Leu) | |
| 5 | g.37038699T>A | CA359498598 | NIPBL | c.6069T>A (p.His2023Gln) c.1-25879T>A (n.1-25879T>A) c.5325T>A (p.His1775Gln) c.5871T>A (p.His1957Gln) c.5688T>A (p.His1896Gln) c.5409T>A (p.His1803Gln) c.4452T>A (p.His1484Gln) c.4443T>A (p.His1481Gln) | |
| 5 | g.37038699T>C | CA443905836 | NIPBL | c.6069T>C (p.His2023=) c.1-25879T>C (n.1-25879T>C) c.5325T>C (p.His1775=) c.5871T>C (p.His1957=) c.5688T>C (p.His1896=) c.5409T>C (p.His1803=) c.4452T>C (p.His1484=) c.4443T>C (p.His1481=) | ClinVar dbSNP |
| 5 | g.37038699T>G | CA359498597 | NIPBL | c.6069T>G (p.His2023Gln) c.1-25879T>G (n.1-25879T>G) c.5325T>G (p.His1775Gln) c.5871T>G (p.His1957Gln) c.5688T>G (p.His1896Gln) c.5409T>G (p.His1803Gln) c.4452T>G (p.His1484Gln) c.4443T>G (p.His1481Gln) | |
| 5 | g.37038699T= | CA1539611523 | NIPBL | c.6069T= (p.His2023=) c.1-25879T= (n.1-25879T=) c.5325T= (p.His1775=) c.5871T= (p.His1957=) c.5688T= (p.His1896=) c.5409T= (p.His1803=) c.4452T= (p.His1484=) c.4443T= (p.His1481=) | |
| 5 | g.37038700G>A | CA359498599 | NIPBL | c.6070G>A (p.Ala2024Thr) c.1-25878G>A (n.1-25878G>A) c.5326G>A (p.Ala1776Thr) c.5872G>A (p.Ala1958Thr) c.5689G>A (p.Ala1897Thr) c.5410G>A (p.Ala1804Thr) c.4453G>A (p.Ala1485Thr) c.4444G>A (p.Ala1482Thr) | |
| 5 | g.37038700G>C | CA16618203 | NIPBL | c.6070G>C (p.Ala2024Pro) c.1-25878G>C (n.1-25878G>C) c.5326G>C (p.Ala1776Pro) c.5872G>C (p.Ala1958Pro) c.5689G>C (p.Ala1897Pro) c.5410G>C (p.Ala1804Pro) c.4453G>C (p.Ala1485Pro) c.4444G>C (p.Ala1482Pro) | ClinVar dbSNP |
| 5 | g.37038700G= | CA1539611529 | NIPBL | c.6070G= (p.Ala2024=) c.1-25878G= (n.1-25878G=) c.5326G= (p.Ala1776=) c.5872G= (p.Ala1958=) c.5689G= (p.Ala1897=) c.5410G= (p.Ala1804=) c.4453G= (p.Ala1485=) c.4444G= (p.Ala1482=) | |
| 5 | g.37038700G>T | CA359498603 | NIPBL | c.6070G>T (p.Ala2024Ser) c.1-25878G>T (n.1-25878G>T) c.5326G>T (p.Ala1776Ser) c.5872G>T (p.Ala1958Ser) c.5689G>T (p.Ala1897Ser) c.5410G>T (p.Ala1804Ser) c.4453G>T (p.Ala1485Ser) c.4444G>T (p.Ala1482Ser) | |
| 5 | g.37038701C>A | CA272192 | NIPBL | c.6071C>A (p.Ala2024Glu) c.1-25877C>A (n.1-25877C>A) c.5327C>A (p.Ala1776Glu) c.5873C>A (p.Ala1958Glu) c.5690C>A (p.Ala1897Glu) c.5411C>A (p.Ala1804Glu) c.4454C>A (p.Ala1485Glu) c.4445C>A (p.Ala1482Glu) | ClinVar dbSNP |
| 5 | g.37038701C= | CA1539611540 | NIPBL | c.6071C= (p.Ala2024=) c.1-25877C= (n.1-25877C=) c.5327C= (p.Ala1776=) c.5873C= (p.Ala1958=) c.5690C= (p.Ala1897=) c.5411C= (p.Ala1804=) c.4454C= (p.Ala1485=) c.4445C= (p.Ala1482=) | |
| 5 | g.37038701C>G | CA359498608 | NIPBL | c.6071C>G (p.Ala2024Gly) c.1-25877C>G (n.1-25877C>G) c.5327C>G (p.Ala1776Gly) c.5873C>G (p.Ala1958Gly) c.5690C>G (p.Ala1897Gly) c.5411C>G (p.Ala1804Gly) c.4454C>G (p.Ala1485Gly) c.4445C>G (p.Ala1482Gly) | |
| 5 | g.37038701C>T | CA3236918 | NIPBL | c.6071C>T (p.Ala2024Val) c.1-25877C>T (n.1-25877C>T) c.5327C>T (p.Ala1776Val) c.5873C>T (p.Ala1958Val) c.5690C>T (p.Ala1897Val) c.5411C>T (p.Ala1804Val) c.4454C>T (p.Ala1485Val) c.4445C>T (p.Ala1482Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37038702A= | CA1539611543 | NIPBL | c.6072A= (p.Ala2024=) c.1-25876A= (n.1-25876A=) c.5328A= (p.Ala1776=) c.5874A= (p.Ala1958=) c.5691A= (p.Ala1897=) c.5412A= (p.Ala1804=) c.4455A= (p.Ala1485=) c.4446A= (p.Ala1482=) | |
| 5 | g.37038702A>C | CA443905837 | NIPBL | c.6072A>C (p.Ala2024=) c.1-25876A>C (n.1-25876A>C) c.5328A>C (p.Ala1776=) c.5874A>C (p.Ala1958=) c.5691A>C (p.Ala1897=) c.5412A>C (p.Ala1804=) c.4455A>C (p.Ala1485=) c.4446A>C (p.Ala1482=) | gnomAD v4 |
| 5 | g.37038702A>G | CA3236919 | NIPBL | c.6072A>G (p.Ala2024=) c.1-25876A>G (n.1-25876A>G) c.5328A>G (p.Ala1776=) c.5874A>G (p.Ala1958=) c.5691A>G (p.Ala1897=) c.5412A>G (p.Ala1804=) c.4455A>G (p.Ala1485=) c.4446A>G (p.Ala1482=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37038702A>T | CA443905839 | NIPBL | c.6072A>T (p.Ala2024=) c.1-25876A>T (n.1-25876A>T) c.5328A>T (p.Ala1776=) c.5874A>T (p.Ala1958=) c.5691A>T (p.Ala1897=) c.5412A>T (p.Ala1804=) c.4455A>T (p.Ala1485=) c.4446A>T (p.Ala1482=) | |
| 5 | g.37038703A= | CA1539611546 | NIPBL | c.6073A= (p.Met2025=) c.1-25875A= (n.1-25875A=) c.5329A= (p.Met1777=) c.5875A= (p.Met1959=) c.5692A= (p.Met1898=) c.5413A= (p.Met1805=) c.4456A= (p.Met1486=) c.4447A= (p.Met1483=) | |
| 5 | g.37038703A>C | CA359498617 | NIPBL | c.6073A>C (p.Met2025Leu) c.1-25875A>C (n.1-25875A>C) c.5329A>C (p.Met1777Leu) c.5875A>C (p.Met1959Leu) c.5692A>C (p.Met1898Leu) c.5413A>C (p.Met1805Leu) c.4456A>C (p.Met1486Leu) c.4447A>C (p.Met1483Leu) | |
| 5 | g.37038703A>G | CA359498619 | NIPBL | c.6073A>G (p.Met2025Val) c.1-25875A>G (n.1-25875A>G) c.5329A>G (p.Met1777Val) c.5875A>G (p.Met1959Val) c.5692A>G (p.Met1898Val) c.5413A>G (p.Met1805Val) c.4456A>G (p.Met1486Val) c.4447A>G (p.Met1483Val) | dbSNP |
| 5 | g.37038703A>T | CA359498628 | NIPBL | c.6073A>T (p.Met2025Leu) c.1-25875A>T (n.1-25875A>T) c.5329A>T (p.Met1777Leu) c.5875A>T (p.Met1959Leu) c.5692A>T (p.Met1898Leu) c.5413A>T (p.Met1805Leu) c.4456A>T (p.Met1486Leu) c.4447A>T (p.Met1483Leu) | |
| 5 | g.37038704T>A | CA359498631 | NIPBL | c.6074T>A (p.Met2025Lys) c.1-25874T>A (n.1-25874T>A) c.5330T>A (p.Met1777Lys) c.5876T>A (p.Met1959Lys) c.5693T>A (p.Met1898Lys) c.5414T>A (p.Met1805Lys) c.4457T>A (p.Met1486Lys) c.4448T>A (p.Met1483Lys) | |
| 5 | g.37038704T>C | CA359498633 | NIPBL | c.6074T>C (p.Met2025Thr) c.1-25874T>C (n.1-25874T>C) c.5330T>C (p.Met1777Thr) c.5876T>C (p.Met1959Thr) c.5693T>C (p.Met1898Thr) c.5414T>C (p.Met1805Thr) c.4457T>C (p.Met1486Thr) c.4448T>C (p.Met1483Thr) | |
| 5 | g.37038704T>G | CA359498639 | NIPBL | c.6074T>G (p.Met2025Arg) c.1-25874T>G (n.1-25874T>G) c.5330T>G (p.Met1777Arg) c.5876T>G (p.Met1959Arg) c.5693T>G (p.Met1898Arg) c.5414T>G (p.Met1805Arg) c.4457T>G (p.Met1486Arg) c.4448T>G (p.Met1483Arg) | |
| 5 | g.37038705G>A | CA359498649 | NIPBL | c.6075G>A (p.Met2025Ile) c.1-25873G>A (n.1-25873G>A) c.5331G>A (p.Met1777Ile) c.5877G>A (p.Met1959Ile) c.5694G>A (p.Met1898Ile) c.5415G>A (p.Met1805Ile) c.4458G>A (p.Met1486Ile) c.4449G>A (p.Met1483Ile) | |
| 5 | g.37038705G>C | CA359498646 | NIPBL | c.6075G>C (p.Met2025Ile) c.1-25873G>C (n.1-25873G>C) c.5331G>C (p.Met1777Ile) c.5877G>C (p.Met1959Ile) c.5694G>C (p.Met1898Ile) c.5415G>C (p.Met1805Ile) c.4458G>C (p.Met1486Ile) c.4449G>C (p.Met1483Ile) | |
| 5 | g.37038705G>T | CA359498643 | NIPBL | c.6075G>T (p.Met2025Ile) c.1-25873G>T (n.1-25873G>T) c.5331G>T (p.Met1777Ile) c.5877G>T (p.Met1959Ile) c.5694G>T (p.Met1898Ile) c.5415G>T (p.Met1805Ile) c.4458G>T (p.Met1486Ile) c.4449G>T (p.Met1483Ile) | |
| 5 | g.37038706A>C | CA359498658 | NIPBL | c.6076A>C (p.Thr2026Pro) c.1-25872A>C (n.1-25872A>C) c.5332A>C (p.Thr1778Pro) c.5878A>C (p.Thr1960Pro) c.5695A>C (p.Thr1899Pro) c.5416A>C (p.Thr1806Pro) c.4459A>C (p.Thr1487Pro) c.4450A>C (p.Thr1484Pro) | |
| 5 | g.37038706A>G | CA359498660 | NIPBL | c.6076A>G (p.Thr2026Ala) c.1-25872A>G (n.1-25872A>G) c.5332A>G (p.Thr1778Ala) c.5878A>G (p.Thr1960Ala) c.5695A>G (p.Thr1899Ala) c.5416A>G (p.Thr1806Ala) c.4459A>G (p.Thr1487Ala) c.4450A>G (p.Thr1484Ala) | |
| 5 | g.37038706A>T | CA359498663 | NIPBL | c.6076A>T (p.Thr2026Ser) c.1-25872A>T (n.1-25872A>T) c.5332A>T (p.Thr1778Ser) c.5878A>T (p.Thr1960Ser) c.5695A>T (p.Thr1899Ser) c.5416A>T (p.Thr1806Ser) c.4459A>T (p.Thr1487Ser) c.4450A>T (p.Thr1484Ser) | |
| 5 | g.37038707C>A | CA359498666 | NIPBL | c.6077C>A (p.Thr2026Asn) c.1-25871C>A (n.1-25871C>A) c.5333C>A (p.Thr1778Asn) c.5879C>A (p.Thr1960Asn) c.5696C>A (p.Thr1899Asn) c.5417C>A (p.Thr1806Asn) c.4460C>A (p.Thr1487Asn) c.4451C>A (p.Thr1484Asn) | |
| 5 | g.37038707C>G | CA359498670 | NIPBL | c.6077C>G (p.Thr2026Ser) c.1-25871C>G (n.1-25871C>G) c.5333C>G (p.Thr1778Ser) c.5879C>G (p.Thr1960Ser) c.5696C>G (p.Thr1899Ser) c.5417C>G (p.Thr1806Ser) c.4460C>G (p.Thr1487Ser) c.4451C>G (p.Thr1484Ser) | |
| 5 | g.37038707C>T | CA359498674 | NIPBL | c.6077C>T (p.Thr2026Ile) c.1-25871C>T (n.1-25871C>T) c.5333C>T (p.Thr1778Ile) c.5879C>T (p.Thr1960Ile) c.5696C>T (p.Thr1899Ile) c.5417C>T (p.Thr1806Ile) c.4460C>T (p.Thr1487Ile) c.4451C>T (p.Thr1484Ile) | gnomAD v4 |
| 5 | g.37038708T>A | CA443905841 | NIPBL | c.6078T>A (p.Thr2026=) c.1-25870T>A (n.1-25870T>A) c.5334T>A (p.Thr1778=) c.5880T>A (p.Thr1960=) c.5697T>A (p.Thr1899=) c.5418T>A (p.Thr1806=) c.4461T>A (p.Thr1487=) c.4452T>A (p.Thr1484=) | |
| 5 | g.37038708T>C | CA443905842 | NIPBL | c.6078T>C (p.Thr2026=) c.1-25870T>C (n.1-25870T>C) c.5334T>C (p.Thr1778=) c.5880T>C (p.Thr1960=) c.5697T>C (p.Thr1899=) c.5418T>C (p.Thr1806=) c.4461T>C (p.Thr1487=) c.4452T>C (p.Thr1484=) | gnomAD v4 |
| 5 | g.37038708T>G | CA443905843 | NIPBL | c.6078T>G (p.Thr2026=) c.1-25870T>G (n.1-25870T>G) c.5334T>G (p.Thr1778=) c.5880T>G (p.Thr1960=) c.5697T>G (p.Thr1899=) c.5418T>G (p.Thr1806=) c.4461T>G (p.Thr1487=) c.4452T>G (p.Thr1484=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038708T= | CA1539611550 | NIPBL | c.6078T= (p.Thr2026=) c.1-25870T= (n.1-25870T=) c.5334T= (p.Thr1778=) c.5880T= (p.Thr1960=) c.5697T= (p.Thr1899=) c.5418T= (p.Thr1806=) c.4461T= (p.Thr1487=) c.4452T= (p.Thr1484=) | |
| 5 | g.37038709A= | CA1539611555 | NIPBL | c.6079A= (p.Met2027=) c.1-25869A= (n.1-25869A=) c.5335A= (p.Met1779=) c.5881A= (p.Met1961=) c.5698A= (p.Met1900=) c.5419A= (p.Met1807=) c.4462A= (p.Met1488=) c.4453A= (p.Met1485=) | |
| 5 | g.37038709A>C | CA359498681 | NIPBL | c.6079A>C (p.Met2027Leu) c.1-25869A>C (n.1-25869A>C) c.5335A>C (p.Met1779Leu) c.5881A>C (p.Met1961Leu) c.5698A>C (p.Met1900Leu) c.5419A>C (p.Met1807Leu) c.4462A>C (p.Met1488Leu) c.4453A>C (p.Met1485Leu) | |
| 5 | g.37038709A>G | CA359498679 | NIPBL | c.6079A>G (p.Met2027Val) c.1-25869A>G (n.1-25869A>G) c.5335A>G (p.Met1779Val) c.5881A>G (p.Met1961Val) c.5698A>G (p.Met1900Val) c.5419A>G (p.Met1807Val) c.4462A>G (p.Met1488Val) c.4453A>G (p.Met1485Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37038709A>T | CA359498676 | NIPBL | c.6079A>T (p.Met2027Leu) c.1-25869A>T (n.1-25869A>T) c.5335A>T (p.Met1779Leu) c.5881A>T (p.Met1961Leu) c.5698A>T (p.Met1900Leu) c.5419A>T (p.Met1807Leu) c.4462A>T (p.Met1488Leu) c.4453A>T (p.Met1485Leu) | |
| 5 | g.37038710_37038713dup | CA2573139686 | NIPBL | c.6080_6083dup (p.Gln2028HisfsTer8) c.1-25868_1-25865dup (n.1-25868_1-25865dup) c.5336_5339dup (p.Gln1780HisfsTer8) c.5882_5885dup (p.Gln1962HisfsTer8) c.5699_5702dup (p.Gln1901HisfsTer8) c.5420_5423dup (p.Gln1808HisfsTer8) c.4463_4466dup (p.Gln1489HisfsTer8) c.4454_4457dup (p.Gln1486HisfsTer8) | ClinVar dbSNP |
| 5 | g.37038710T>A | CA359498683 | NIPBL | c.6080T>A (p.Met2027Lys) c.1-25868T>A (n.1-25868T>A) c.5336T>A (p.Met1779Lys) c.5882T>A (p.Met1961Lys) c.5699T>A (p.Met1900Lys) c.5420T>A (p.Met1807Lys) c.4463T>A (p.Met1488Lys) c.4454T>A (p.Met1485Lys) | |
| 5 | g.37038710T>C | CA359498685 | NIPBL | c.6080T>C (p.Met2027Thr) c.1-25868T>C (n.1-25868T>C) c.5336T>C (p.Met1779Thr) c.5882T>C (p.Met1961Thr) c.5699T>C (p.Met1900Thr) c.5420T>C (p.Met1807Thr) c.4463T>C (p.Met1488Thr) c.4454T>C (p.Met1485Thr) | COSMIC COSMIC |
| 5 | g.37038710T>G | CA359498689 | NIPBL | c.6080T>G (p.Met2027Arg) c.1-25868T>G (n.1-25868T>G) c.5336T>G (p.Met1779Arg) c.5882T>G (p.Met1961Arg) c.5699T>G (p.Met1900Arg) c.5420T>G (p.Met1807Arg) c.4463T>G (p.Met1488Arg) c.4454T>G (p.Met1485Arg) | |
| 5 | g.37038711G>A | CA359498698 | NIPBL | c.6081G>A (p.Met2027Ile) c.1-25867G>A (n.1-25867G>A) c.5337G>A (p.Met1779Ile) c.5883G>A (p.Met1961Ile) c.5700G>A (p.Met1900Ile) c.5421G>A (p.Met1807Ile) c.4464G>A (p.Met1488Ile) c.4455G>A (p.Met1485Ile) | |
| 5 | g.37038711G>C | CA359498700 | NIPBL | c.6081G>C (p.Met2027Ile) c.1-25867G>C (n.1-25867G>C) c.5337G>C (p.Met1779Ile) c.5883G>C (p.Met1961Ile) c.5700G>C (p.Met1900Ile) c.5421G>C (p.Met1807Ile) c.4464G>C (p.Met1488Ile) c.4455G>C (p.Met1485Ile) | |
| 5 | g.37038711G>T | CA359498703 | NIPBL | c.6081G>T (p.Met2027Ile) c.1-25867G>T (n.1-25867G>T) c.5337G>T (p.Met1779Ile) c.5883G>T (p.Met1961Ile) c.5700G>T (p.Met1900Ile) c.5421G>T (p.Met1807Ile) c.4464G>T (p.Met1488Ile) c.4455G>T (p.Met1485Ile) | |
| 5 | g.37038712C>A | CA359498706 | NIPBL | c.6082C>A (p.Gln2028Lys) c.1-25866C>A (n.1-25866C>A) c.5338C>A (p.Gln1780Lys) c.5884C>A (p.Gln1962Lys) c.5701C>A (p.Gln1901Lys) c.5422C>A (p.Gln1808Lys) c.4465C>A (p.Gln1489Lys) c.4456C>A (p.Gln1486Lys) | |
| 5 | g.37038712C= | CA1539611559 | NIPBL | c.6082C= (p.Gln2028=) c.1-25866C= (n.1-25866C=) c.5338C= (p.Gln1780=) c.5884C= (p.Gln1962=) c.5701C= (p.Gln1901=) c.5422C= (p.Gln1808=) c.4465C= (p.Gln1489=) c.4456C= (p.Gln1486=) | |
| 5 | g.37038712C>G | CA359498711 | NIPBL | c.6082C>G (p.Gln2028Glu) c.1-25866C>G (n.1-25866C>G) c.5338C>G (p.Gln1780Glu) c.5884C>G (p.Gln1962Glu) c.5701C>G (p.Gln1901Glu) c.5422C>G (p.Gln1808Glu) c.4465C>G (p.Gln1489Glu) c.4456C>G (p.Gln1486Glu) | |
| 5 | g.37038712C>T | CA10606653 | NIPBL | c.6082C>T (p.Gln2028Ter) c.1-25866C>T (n.1-25866C>T) c.5338C>T (p.Gln1780Ter) c.5884C>T (p.Gln1962Ter) c.5701C>T (p.Gln1901Ter) c.5422C>T (p.Gln1808Ter) c.4465C>T (p.Gln1489Ter) c.4456C>T (p.Gln1486Ter) | ClinVar dbSNP |
| 5 | g.37038713A>C | CA359498714 | NIPBL | c.6083A>C (p.Gln2028Pro) c.1-25865A>C (n.1-25865A>C) c.5339A>C (p.Gln1780Pro) c.5885A>C (p.Gln1962Pro) c.5702A>C (p.Gln1901Pro) c.5423A>C (p.Gln1808Pro) c.4466A>C (p.Gln1489Pro) c.4457A>C (p.Gln1486Pro) | |
| 5 | g.37038713A>G | CA359498716 | NIPBL | c.6083A>G (p.Gln2028Arg) c.1-25865A>G (n.1-25865A>G) c.5339A>G (p.Gln1780Arg) c.5885A>G (p.Gln1962Arg) c.5702A>G (p.Gln1901Arg) c.5423A>G (p.Gln1808Arg) c.4466A>G (p.Gln1489Arg) c.4457A>G (p.Gln1486Arg) | |
| 5 | g.37038713A>T | CA359498719 | NIPBL | c.6083A>T (p.Gln2028Leu) c.1-25865A>T (n.1-25865A>T) c.5339A>T (p.Gln1780Leu) c.5885A>T (p.Gln1962Leu) c.5702A>T (p.Gln1901Leu) c.5423A>T (p.Gln1808Leu) c.4466A>T (p.Gln1489Leu) c.4457A>T (p.Gln1486Leu) | |
| 5 | g.37038714A>C | CA359498720 | NIPBL | c.6084A>C (p.Gln2028His) c.1-25864A>C (n.1-25864A>C) c.5340A>C (p.Gln1780His) c.5886A>C (p.Gln1962His) c.5703A>C (p.Gln1901His) c.5424A>C (p.Gln1808His) c.4467A>C (p.Gln1489His) c.4458A>C (p.Gln1486His) | |
| 5 | g.37038714A>G | CA443905844 | NIPBL | c.6084A>G (p.Gln2028=) c.1-25864A>G (n.1-25864A>G) c.5340A>G (p.Gln1780=) c.5886A>G (p.Gln1962=) c.5703A>G (p.Gln1901=) c.5424A>G (p.Gln1808=) c.4467A>G (p.Gln1489=) c.4458A>G (p.Gln1486=) | |
| 5 | g.37038714A>T | CA359498721 | NIPBL | c.6084A>T (p.Gln2028His) c.1-25864A>T (n.1-25864A>T) c.5340A>T (p.Gln1780His) c.5886A>T (p.Gln1962His) c.5703A>T (p.Gln1901His) c.5424A>T (p.Gln1808His) c.4467A>T (p.Gln1489His) c.4458A>T (p.Gln1486His) | |
| 5 | g.37038715C>A | CA359498722 | NIPBL | c.6085C>A (p.Pro2029Thr) c.1-25863C>A (n.1-25863C>A) c.5341C>A (p.Pro1781Thr) c.5887C>A (p.Pro1963Thr) c.5704C>A (p.Pro1902Thr) c.5425C>A (p.Pro1809Thr) c.4468C>A (p.Pro1490Thr) c.4459C>A (p.Pro1487Thr) | |
| 5 | g.37038715C>G | CA359498723 | NIPBL | c.6085C>G (p.Pro2029Ala) c.1-25863C>G (n.1-25863C>G) c.5341C>G (p.Pro1781Ala) c.5887C>G (p.Pro1963Ala) c.5704C>G (p.Pro1902Ala) c.5425C>G (p.Pro1809Ala) c.4468C>G (p.Pro1490Ala) c.4459C>G (p.Pro1487Ala) | |
| 5 | g.37038715C>T | CA359498724 | NIPBL | c.6085C>T (p.Pro2029Ser) c.1-25863C>T (n.1-25863C>T) c.5341C>T (p.Pro1781Ser) c.5887C>T (p.Pro1963Ser) c.5704C>T (p.Pro1902Ser) c.5425C>T (p.Pro1809Ser) c.4468C>T (p.Pro1490Ser) c.4459C>T (p.Pro1487Ser) | |
| 5 | g.37038716C>A | CA359498726 | NIPBL | c.6086C>A (p.Pro2029Gln) c.1-25862C>A (n.1-25862C>A) c.5342C>A (p.Pro1781Gln) c.5888C>A (p.Pro1963Gln) c.5705C>A (p.Pro1902Gln) c.5426C>A (p.Pro1809Gln) c.4469C>A (p.Pro1490Gln) c.4460C>A (p.Pro1487Gln) | |
| 5 | g.37038716C= | CA1539611565 | NIPBL | c.6086C= (p.Pro2029=) c.1-25862C= (n.1-25862C=) c.5342C= (p.Pro1781=) c.5888C= (p.Pro1963=) c.5705C= (p.Pro1902=) c.5426C= (p.Pro1809=) c.4469C= (p.Pro1490=) c.4460C= (p.Pro1487=) | |
| 5 | g.37038716C>G | CA359498729 | NIPBL | c.6086C>G (p.Pro2029Arg) c.1-25862C>G (n.1-25862C>G) c.5342C>G (p.Pro1781Arg) c.5888C>G (p.Pro1963Arg) c.5705C>G (p.Pro1902Arg) c.5426C>G (p.Pro1809Arg) c.4469C>G (p.Pro1490Arg) c.4460C>G (p.Pro1487Arg) | |
| 5 | g.37038716C>T | CA359498731 | NIPBL | c.6086C>T (p.Pro2029Leu) c.1-25862C>T (n.1-25862C>T) c.5342C>T (p.Pro1781Leu) c.5888C>T (p.Pro1963Leu) c.5705C>T (p.Pro1902Leu) c.5426C>T (p.Pro1809Leu) c.4469C>T (p.Pro1490Leu) c.4460C>T (p.Pro1487Leu) |