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.37049112G>A | CA359508682 | NIPBL | c.6765G>A (p.Trp2255Ter) c.1-15466G>A (n.1-15466G>A) c.6021G>A (p.Trp2007Ter) c.6567G>A (p.Trp2189Ter) c.6384G>A (p.Trp2128Ter) c.6105G>A (p.Trp2035Ter) c.5148G>A (p.Trp1716Ter) c.5139G>A (p.Trp1713Ter) | |
| 5 | g.37049112G>C | CA359508683 | NIPBL | c.6765G>C (p.Trp2255Cys) c.1-15466G>C (n.1-15466G>C) c.6021G>C (p.Trp2007Cys) c.6567G>C (p.Trp2189Cys) c.6384G>C (p.Trp2128Cys) c.6105G>C (p.Trp2035Cys) c.5148G>C (p.Trp1716Cys) c.5139G>C (p.Trp1713Cys) | |
| 5 | g.37049112G>T | CA359508684 | NIPBL | c.6765G>T (p.Trp2255Cys) c.1-15466G>T (n.1-15466G>T) c.6021G>T (p.Trp2007Cys) c.6567G>T (p.Trp2189Cys) c.6384G>T (p.Trp2128Cys) c.6105G>T (p.Trp2035Cys) c.5148G>T (p.Trp1716Cys) c.5139G>T (p.Trp1713Cys) | |
| 5 | g.37049113A>C | CA359508686 | NIPBL | c.6766A>C (p.Lys2256Gln) c.1-15465A>C (n.1-15465A>C) c.6022A>C (p.Lys2008Gln) c.6568A>C (p.Lys2190Gln) c.6385A>C (p.Lys2129Gln) c.6106A>C (p.Lys2036Gln) c.5149A>C (p.Lys1717Gln) c.5140A>C (p.Lys1714Gln) | |
| 5 | g.37049113A>G | CA359508687 | NIPBL | c.6766A>G (p.Lys2256Glu) c.1-15465A>G (n.1-15465A>G) c.6022A>G (p.Lys2008Glu) c.6568A>G (p.Lys2190Glu) c.6385A>G (p.Lys2129Glu) c.6106A>G (p.Lys2036Glu) c.5149A>G (p.Lys1717Glu) c.5140A>G (p.Lys1714Glu) | |
| 5 | g.37049113A>T | CA359508685 | NIPBL | c.6766A>T (p.Lys2256Ter) c.1-15465A>T (n.1-15465A>T) c.6022A>T (p.Lys2008Ter) c.6568A>T (p.Lys2190Ter) c.6385A>T (p.Lys2129Ter) c.6106A>T (p.Lys2036Ter) c.5149A>T (p.Lys1717Ter) c.5140A>T (p.Lys1714Ter) | |
| 5 | g.37049114A>C | CA359508688 | NIPBL | c.6767A>C (p.Lys2256Thr) c.1-15464A>C (n.1-15464A>C) c.6023A>C (p.Lys2008Thr) c.6569A>C (p.Lys2190Thr) c.6386A>C (p.Lys2129Thr) c.6107A>C (p.Lys2036Thr) c.5150A>C (p.Lys1717Thr) c.5141A>C (p.Lys1714Thr) | |
| 5 | g.37049114A>G | CA359508689 | NIPBL | c.6767A>G (p.Lys2256Arg) c.1-15464A>G (n.1-15464A>G) c.6023A>G (p.Lys2008Arg) c.6569A>G (p.Lys2190Arg) c.6386A>G (p.Lys2129Arg) c.6107A>G (p.Lys2036Arg) c.5150A>G (p.Lys1717Arg) c.5141A>G (p.Lys1714Arg) | gnomAD v4 |
| 5 | g.37049114A>T | CA359508690 | NIPBL | c.6767A>T (p.Lys2256Met) c.1-15464A>T (n.1-15464A>T) c.6023A>T (p.Lys2008Met) c.6569A>T (p.Lys2190Met) c.6386A>T (p.Lys2129Met) c.6107A>T (p.Lys2036Met) c.5150A>T (p.Lys1717Met) c.5141A>T (p.Lys1714Met) | |
| 5 | g.37049115G>A | CA443907705 | NIPBL | c.6768G>A (p.Lys2256=) c.1-15463G>A (n.1-15463G>A) c.6024G>A (p.Lys2008=) c.6570G>A (p.Lys2190=) c.6387G>A (p.Lys2129=) c.6108G>A (p.Lys2036=) c.5151G>A (p.Lys1717=) c.5142G>A (p.Lys1714=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049115G>C | CA359508691 | NIPBL | c.6768G>C (p.Lys2256Asn) c.1-15463G>C (n.1-15463G>C) c.6024G>C (p.Lys2008Asn) c.6570G>C (p.Lys2190Asn) c.6387G>C (p.Lys2129Asn) c.6108G>C (p.Lys2036Asn) c.5151G>C (p.Lys1717Asn) c.5142G>C (p.Lys1714Asn) | |
| 5 | g.37049115G= | CA1539568313 | NIPBL | c.6768G= (p.Lys2256=) c.1-15463G= (n.1-15463G=) c.6024G= (p.Lys2008=) c.6570G= (p.Lys2190=) c.6387G= (p.Lys2129=) c.6108G= (p.Lys2036=) c.5151G= (p.Lys1717=) c.5142G= (p.Lys1714=) | |
| 5 | g.37049115G>T | CA359508692 | NIPBL | c.6768G>T (p.Lys2256Asn) c.1-15463G>T (n.1-15463G>T) c.6024G>T (p.Lys2008Asn) c.6570G>T (p.Lys2190Asn) c.6387G>T (p.Lys2129Asn) c.6108G>T (p.Lys2036Asn) c.5151G>T (p.Lys1717Asn) c.5142G>T (p.Lys1714Asn) | |
| 5 | g.37049116A= | CA1539568319 | NIPBL | c.6769A= (p.Lys2257=) c.1-15462A= (n.1-15462A=) c.6025A= (p.Lys2009=) c.6571A= (p.Lys2191=) c.6388A= (p.Lys2130=) c.6109A= (p.Lys2037=) c.5152A= (p.Lys1718=) c.5143A= (p.Lys1715=) | |
| 5 | g.37049116A>C | CA117049198 | NIPBL | c.6769A>C (p.Lys2257Gln) c.1-15462A>C (n.1-15462A>C) c.6025A>C (p.Lys2009Gln) c.6571A>C (p.Lys2191Gln) c.6388A>C (p.Lys2130Gln) c.6109A>C (p.Lys2037Gln) c.5152A>C (p.Lys1718Gln) c.5143A>C (p.Lys1715Gln) | dbSNP |
| 5 | g.37049116A>G | CA359508693 | NIPBL | c.6769A>G (p.Lys2257Glu) c.1-15462A>G (n.1-15462A>G) c.6025A>G (p.Lys2009Glu) c.6571A>G (p.Lys2191Glu) c.6388A>G (p.Lys2130Glu) c.6109A>G (p.Lys2037Glu) c.5152A>G (p.Lys1718Glu) c.5143A>G (p.Lys1715Glu) | ClinVar dbSNP |
| 5 | g.37049116A>T | CA359508694 | NIPBL | c.6769A>T (p.Lys2257Ter) c.1-15462A>T (n.1-15462A>T) c.6025A>T (p.Lys2009Ter) c.6571A>T (p.Lys2191Ter) c.6388A>T (p.Lys2130Ter) c.6109A>T (p.Lys2037Ter) c.5152A>T (p.Lys1718Ter) c.5143A>T (p.Lys1715Ter) | |
| 5 | g.37049117A>C | CA359508695 | NIPBL | c.6770A>C (p.Lys2257Thr) c.1-15461A>C (n.1-15461A>C) c.6026A>C (p.Lys2009Thr) c.6572A>C (p.Lys2191Thr) c.6389A>C (p.Lys2130Thr) c.6110A>C (p.Lys2037Thr) c.5153A>C (p.Lys1718Thr) c.5144A>C (p.Lys1715Thr) | |
| 5 | g.37049117A>G | CA359508696 | NIPBL | c.6770A>G (p.Lys2257Arg) c.1-15461A>G (n.1-15461A>G) c.6026A>G (p.Lys2009Arg) c.6572A>G (p.Lys2191Arg) c.6389A>G (p.Lys2130Arg) c.6110A>G (p.Lys2037Arg) c.5153A>G (p.Lys1718Arg) c.5144A>G (p.Lys1715Arg) | |
| 5 | g.37049117A>T | CA359508697 | NIPBL | c.6770A>T (p.Lys2257Ile) c.1-15461A>T (n.1-15461A>T) c.6026A>T (p.Lys2009Ile) c.6572A>T (p.Lys2191Ile) c.6389A>T (p.Lys2130Ile) c.6110A>T (p.Lys2037Ile) c.5153A>T (p.Lys1718Ile) c.5144A>T (p.Lys1715Ile) | |
| 5 | g.37049118A>C | CA359508698 | NIPBL | c.6771A>C (p.Lys2257Asn) c.1-15460A>C (n.1-15460A>C) c.6027A>C (p.Lys2009Asn) c.6573A>C (p.Lys2191Asn) c.6390A>C (p.Lys2130Asn) c.6111A>C (p.Lys2037Asn) c.5154A>C (p.Lys1718Asn) c.5145A>C (p.Lys1715Asn) | |
| 5 | g.37049118A>G | CA443907718 | NIPBL | c.6771A>G (p.Lys2257=) c.1-15460A>G (n.1-15460A>G) c.6027A>G (p.Lys2009=) c.6573A>G (p.Lys2191=) c.6390A>G (p.Lys2130=) c.6111A>G (p.Lys2037=) c.5154A>G (p.Lys1718=) c.5145A>G (p.Lys1715=) | |
| 5 | g.37049118A>T | CA359508699 | NIPBL | c.6771A>T (p.Lys2257Asn) c.1-15460A>T (n.1-15460A>T) c.6027A>T (p.Lys2009Asn) c.6573A>T (p.Lys2191Asn) c.6390A>T (p.Lys2130Asn) c.6111A>T (p.Lys2037Asn) c.5154A>T (p.Lys1718Asn) c.5145A>T (p.Lys1715Asn) | COSMIC COSMIC |
| 5 | g.37049119G>A | CA359508700 | NIPBL | c.6772G>A (p.Val2258Ile) c.1-15459G>A (n.1-15459G>A) c.6028G>A (p.Val2010Ile) c.6574G>A (p.Val2192Ile) c.6391G>A (p.Val2131Ile) c.6112G>A (p.Val2038Ile) c.5155G>A (p.Val1719Ile) c.5146G>A (p.Val1716Ile) | |
| 5 | g.37049119G>C | CA359508702 | NIPBL | c.6772G>C (p.Val2258Leu) c.1-15459G>C (n.1-15459G>C) c.6028G>C (p.Val2010Leu) c.6574G>C (p.Val2192Leu) c.6391G>C (p.Val2131Leu) c.6112G>C (p.Val2038Leu) c.5155G>C (p.Val1719Leu) c.5146G>C (p.Val1716Leu) | dbSNP |
| 5 | g.37049119G= | CA1539568331 | NIPBL | c.6772G= (p.Val2258=) c.1-15459G= (n.1-15459G=) c.6028G= (p.Val2010=) c.6574G= (p.Val2192=) c.6391G= (p.Val2131=) c.6112G= (p.Val2038=) c.5155G= (p.Val1719=) c.5146G= (p.Val1716=) | |
| 5 | g.37049119G>T | CA359508701 | NIPBL | c.6772G>T (p.Val2258Phe) c.1-15459G>T (n.1-15459G>T) c.6028G>T (p.Val2010Phe) c.6574G>T (p.Val2192Phe) c.6391G>T (p.Val2131Phe) c.6112G>T (p.Val2038Phe) c.5155G>T (p.Val1719Phe) c.5146G>T (p.Val1716Phe) | |
| 5 | g.37049120T>A | CA359508703 | NIPBL | c.6773T>A (p.Val2258Asp) c.1-15458T>A (n.1-15458T>A) c.6029T>A (p.Val2010Asp) c.6575T>A (p.Val2192Asp) c.6392T>A (p.Val2131Asp) c.6113T>A (p.Val2038Asp) c.5156T>A (p.Val1719Asp) c.5147T>A (p.Val1716Asp) | |
| 5 | g.37049120T>C | CA359508705 | NIPBL | c.6773T>C (p.Val2258Ala) c.1-15458T>C (n.1-15458T>C) c.6029T>C (p.Val2010Ala) c.6575T>C (p.Val2192Ala) c.6392T>C (p.Val2131Ala) c.6113T>C (p.Val2038Ala) c.5156T>C (p.Val1719Ala) c.5147T>C (p.Val1716Ala) | |
| 5 | g.37049120T>G | CA359508704 | NIPBL | c.6773T>G (p.Val2258Gly) c.1-15458T>G (n.1-15458T>G) c.6029T>G (p.Val2010Gly) c.6575T>G (p.Val2192Gly) c.6392T>G (p.Val2131Gly) c.6113T>G (p.Val2038Gly) c.5156T>G (p.Val1719Gly) c.5147T>G (p.Val1716Gly) | |
| 5 | g.37049121T>A | CA443907730 | NIPBL | c.6774T>A (p.Val2258=) c.1-15457T>A (n.1-15457T>A) c.6030T>A (p.Val2010=) c.6576T>A (p.Val2192=) c.6393T>A (p.Val2131=) c.6114T>A (p.Val2038=) c.5157T>A (p.Val1719=) c.5148T>A (p.Val1716=) | |
| 5 | g.37049121T>C | CA443907732 | NIPBL | c.6774T>C (p.Val2258=) c.1-15457T>C (n.1-15457T>C) c.6030T>C (p.Val2010=) c.6576T>C (p.Val2192=) c.6393T>C (p.Val2131=) c.6114T>C (p.Val2038=) c.5157T>C (p.Val1719=) c.5148T>C (p.Val1716=) | |
| 5 | g.37049121T>G | CA443907733 | NIPBL | c.6774T>G (p.Val2258=) c.1-15457T>G (n.1-15457T>G) c.6030T>G (p.Val2010=) c.6576T>G (p.Val2192=) c.6393T>G (p.Val2131=) c.6114T>G (p.Val2038=) c.5157T>G (p.Val1719=) c.5148T>G (p.Val1716=) | |
| 5 | g.37049122G>A | CA359508706 | NIPBL | c.6775G>A (p.Ala2259Thr) c.1-15456G>A (n.1-15456G>A) c.6031G>A (p.Ala2011Thr) c.6577G>A (p.Ala2193Thr) c.6394G>A (p.Ala2132Thr) c.6115G>A (p.Ala2039Thr) c.5158G>A (p.Ala1720Thr) c.5149G>A (p.Ala1717Thr) | |
| 5 | g.37049122G>C | CA359508708 | NIPBL | c.6775G>C (p.Ala2259Pro) c.1-15456G>C (n.1-15456G>C) c.6031G>C (p.Ala2011Pro) c.6577G>C (p.Ala2193Pro) c.6394G>C (p.Ala2132Pro) c.6115G>C (p.Ala2039Pro) c.5158G>C (p.Ala1720Pro) c.5149G>C (p.Ala1717Pro) | |
| 5 | g.37049122G= | CA1539568334 | NIPBL | c.6775G= (p.Ala2259=) c.1-15456G= (n.1-15456G=) c.6031G= (p.Ala2011=) c.6577G= (p.Ala2193=) c.6394G= (p.Ala2132=) c.6115G= (p.Ala2039=) c.5158G= (p.Ala1720=) c.5149G= (p.Ala1717=) | |
| 5 | g.37049122G>T | CA359508707 | NIPBL | c.6775G>T (p.Ala2259Ser) c.1-15456G>T (n.1-15456G>T) c.6031G>T (p.Ala2011Ser) c.6577G>T (p.Ala2193Ser) c.6394G>T (p.Ala2132Ser) c.6115G>T (p.Ala2039Ser) c.5158G>T (p.Ala1720Ser) c.5149G>T (p.Ala1717Ser) | dbSNP |
| 5 | g.37049123C>A | CA359508709 | NIPBL | c.6776C>A (p.Ala2259Glu) c.1-15455C>A (n.1-15455C>A) c.6032C>A (p.Ala2011Glu) c.6578C>A (p.Ala2193Glu) c.6395C>A (p.Ala2132Glu) c.6116C>A (p.Ala2039Glu) c.5159C>A (p.Ala1720Glu) c.5150C>A (p.Ala1717Glu) | |
| 5 | g.37049123C>G | CA359508710 | NIPBL | c.6776C>G (p.Ala2259Gly) c.1-15455C>G (n.1-15455C>G) c.6032C>G (p.Ala2011Gly) c.6578C>G (p.Ala2193Gly) c.6395C>G (p.Ala2132Gly) c.6116C>G (p.Ala2039Gly) c.5159C>G (p.Ala1720Gly) c.5150C>G (p.Ala1717Gly) | |
| 5 | g.37049123C>T | CA359508711 | NIPBL | c.6776C>T (p.Ala2259Val) c.1-15455C>T (n.1-15455C>T) c.6032C>T (p.Ala2011Val) c.6578C>T (p.Ala2193Val) c.6395C>T (p.Ala2132Val) c.6116C>T (p.Ala2039Val) c.5159C>T (p.Ala1720Val) c.5150C>T (p.Ala1717Val) | COSMIC COSMIC |
| 5 | g.37049124A= | CA1539568338 | NIPBL | c.6777A= (p.Ala2259=) c.1-15454A= (n.1-15454A=) c.6033A= (p.Ala2011=) c.6579A= (p.Ala2193=) c.6396A= (p.Ala2132=) c.6117A= (p.Ala2039=) c.5160A= (p.Ala1720=) c.5151A= (p.Ala1717=) | |
| 5 | g.37049124A>C | CA443907744 | NIPBL | c.6777A>C (p.Ala2259=) c.1-15454A>C (n.1-15454A>C) c.6033A>C (p.Ala2011=) c.6579A>C (p.Ala2193=) c.6396A>C (p.Ala2132=) c.6117A>C (p.Ala2039=) c.5160A>C (p.Ala1720=) c.5151A>C (p.Ala1717=) | gnomAD v4 |
| 5 | g.37049124A>G | CA443907746 | NIPBL | c.6777A>G (p.Ala2259=) c.1-15454A>G (n.1-15454A>G) c.6033A>G (p.Ala2011=) c.6579A>G (p.Ala2193=) c.6396A>G (p.Ala2132=) c.6117A>G (p.Ala2039=) c.5160A>G (p.Ala1720=) c.5151A>G (p.Ala1717=) | |
| 5 | g.37049124A>T | CA117049223 | NIPBL | c.6777A>T (p.Ala2259=) c.1-15454A>T (n.1-15454A>T) c.6033A>T (p.Ala2011=) c.6579A>T (p.Ala2193=) c.6396A>T (p.Ala2132=) c.6117A>T (p.Ala2039=) c.5160A>T (p.Ala1720=) c.5151A>T (p.Ala1717=) | dbSNP |
| 5 | g.37049125A>C | CA359508712 | NIPBL | c.6778A>C (p.Lys2260Gln) c.1-15453A>C (n.1-15453A>C) c.6034A>C (p.Lys2012Gln) c.6580A>C (p.Lys2194Gln) c.6397A>C (p.Lys2133Gln) c.6118A>C (p.Lys2040Gln) c.5161A>C (p.Lys1721Gln) c.5152A>C (p.Lys1718Gln) | |
| 5 | g.37049125A>G | CA359508713 | NIPBL | c.6778A>G (p.Lys2260Glu) c.1-15453A>G (n.1-15453A>G) c.6034A>G (p.Lys2012Glu) c.6580A>G (p.Lys2194Glu) c.6397A>G (p.Lys2133Glu) c.6118A>G (p.Lys2040Glu) c.5161A>G (p.Lys1721Glu) c.5152A>G (p.Lys1718Glu) | |
| 5 | g.37049125A>T | CA359508714 | NIPBL | c.6778A>T (p.Lys2260Ter) c.1-15453A>T (n.1-15453A>T) c.6034A>T (p.Lys2012Ter) c.6580A>T (p.Lys2194Ter) c.6397A>T (p.Lys2133Ter) c.6118A>T (p.Lys2040Ter) c.5161A>T (p.Lys1721Ter) c.5152A>T (p.Lys1718Ter) | |
| 5 | g.37049126A>C | CA359508715 | NIPBL | c.6779A>C (p.Lys2260Thr) c.1-15452A>C (n.1-15452A>C) c.6035A>C (p.Lys2012Thr) c.6581A>C (p.Lys2194Thr) c.6398A>C (p.Lys2133Thr) c.6119A>C (p.Lys2040Thr) c.5162A>C (p.Lys1721Thr) c.5153A>C (p.Lys1718Thr) | |
| 5 | g.37049126A>G | CA359508716 | NIPBL | c.6779A>G (p.Lys2260Arg) c.1-15452A>G (n.1-15452A>G) c.6035A>G (p.Lys2012Arg) c.6581A>G (p.Lys2194Arg) c.6398A>G (p.Lys2133Arg) c.6119A>G (p.Lys2040Arg) c.5162A>G (p.Lys1721Arg) c.5153A>G (p.Lys1718Arg) | |
| 5 | g.37049126A>T | CA359508717 | NIPBL | c.6779A>T (p.Lys2260Ile) c.1-15452A>T (n.1-15452A>T) c.6035A>T (p.Lys2012Ile) c.6581A>T (p.Lys2194Ile) c.6398A>T (p.Lys2133Ile) c.6119A>T (p.Lys2040Ile) c.5162A>T (p.Lys1721Ile) c.5153A>T (p.Lys1718Ile) | |
| 5 | g.37049127A>C | CA359508718 | NIPBL | c.6780A>C (p.Lys2260Asn) c.1-15451A>C (n.1-15451A>C) c.6036A>C (p.Lys2012Asn) c.6582A>C (p.Lys2194Asn) c.6399A>C (p.Lys2133Asn) c.6120A>C (p.Lys2040Asn) c.5163A>C (p.Lys1721Asn) c.5154A>C (p.Lys1718Asn) | |
| 5 | g.37049127A>G | CA443907758 | NIPBL | c.6780A>G (p.Lys2260=) c.1-15451A>G (n.1-15451A>G) c.6036A>G (p.Lys2012=) c.6582A>G (p.Lys2194=) c.6399A>G (p.Lys2133=) c.6120A>G (p.Lys2040=) c.5163A>G (p.Lys1721=) c.5154A>G (p.Lys1718=) | |
| 5 | g.37049127A>T | CA359508719 | NIPBL | c.6780A>T (p.Lys2260Asn) c.1-15451A>T (n.1-15451A>T) c.6036A>T (p.Lys2012Asn) c.6582A>T (p.Lys2194Asn) c.6399A>T (p.Lys2133Asn) c.6120A>T (p.Lys2040Asn) c.5163A>T (p.Lys1721Asn) c.5154A>T (p.Lys1718Asn) | |
| 5 | g.37049128C>A | CA359508722 | NIPBL | c.6781C>A (p.Gln2261Lys) c.1-15450C>A (n.1-15450C>A) c.6037C>A (p.Gln2013Lys) c.6583C>A (p.Gln2195Lys) c.6400C>A (p.Gln2134Lys) c.6121C>A (p.Gln2041Lys) c.5164C>A (p.Gln1722Lys) c.5155C>A (p.Gln1719Lys) | |
| 5 | g.37049128C>G | CA359508720 | NIPBL | c.6781C>G (p.Gln2261Glu) c.1-15450C>G (n.1-15450C>G) c.6037C>G (p.Gln2013Glu) c.6583C>G (p.Gln2195Glu) c.6400C>G (p.Gln2134Glu) c.6121C>G (p.Gln2041Glu) c.5164C>G (p.Gln1722Glu) c.5155C>G (p.Gln1719Glu) | |
| 5 | g.37049128C>T | CA359508721 | NIPBL | c.6781C>T (p.Gln2261Ter) c.1-15450C>T (n.1-15450C>T) c.6037C>T (p.Gln2013Ter) c.6583C>T (p.Gln2195Ter) c.6400C>T (p.Gln2134Ter) c.6121C>T (p.Gln2041Ter) c.5164C>T (p.Gln1722Ter) c.5155C>T (p.Gln1719Ter) | |
| 5 | g.37049129A>C | CA359508723 | NIPBL | c.6782A>C (p.Gln2261Pro) c.1-15449A>C (n.1-15449A>C) c.6038A>C (p.Gln2013Pro) c.6584A>C (p.Gln2195Pro) c.6401A>C (p.Gln2134Pro) c.6122A>C (p.Gln2041Pro) c.5165A>C (p.Gln1722Pro) c.5156A>C (p.Gln1719Pro) | |
| 5 | g.37049129A>G | CA359508724 | NIPBL | c.6782A>G (p.Gln2261Arg) c.1-15449A>G (n.1-15449A>G) c.6038A>G (p.Gln2013Arg) c.6584A>G (p.Gln2195Arg) c.6401A>G (p.Gln2134Arg) c.6122A>G (p.Gln2041Arg) c.5165A>G (p.Gln1722Arg) c.5156A>G (p.Gln1719Arg) | |
| 5 | g.37049129A>T | CA359508725 | NIPBL | c.6782A>T (p.Gln2261Leu) c.1-15449A>T (n.1-15449A>T) c.6038A>T (p.Gln2013Leu) c.6584A>T (p.Gln2195Leu) c.6401A>T (p.Gln2134Leu) c.6122A>T (p.Gln2041Leu) c.5165A>T (p.Gln1722Leu) c.5156A>T (p.Gln1719Leu) | |
| 5 | g.37049130G>A | CA443907782 | NIPBL | c.6783G>A (p.Gln2261=) c.1-15448G>A (n.1-15448G>A) c.6039G>A (p.Gln2013=) c.6585G>A (p.Gln2195=) c.6402G>A (p.Gln2134=) c.6123G>A (p.Gln2041=) c.5166G>A (p.Gln1722=) c.5157G>A (p.Gln1719=) | |
| 5 | g.37049130G>C | CA359508726 | NIPBL | c.6783G>C (p.Gln2261His) c.1-15448G>C (n.1-15448G>C) c.6039G>C (p.Gln2013His) c.6585G>C (p.Gln2195His) c.6402G>C (p.Gln2134His) c.6123G>C (p.Gln2041His) c.5166G>C (p.Gln1722His) c.5157G>C (p.Gln1719His) | |
| 5 | g.37049130G>T | CA359508727 | NIPBL | c.6783G>T (p.Gln2261His) c.1-15448G>T (n.1-15448G>T) c.6039G>T (p.Gln2013His) c.6585G>T (p.Gln2195His) c.6402G>T (p.Gln2134His) c.6123G>T (p.Gln2041His) c.5166G>T (p.Gln1722His) c.5157G>T (p.Gln1719His) | |
| 5 | g.37049131del | CA645546380 | NIPBL | c.6784del (p.Glu2262LysfsTer3) c.1-15447del (n.1-15447del) c.6040del (p.Glu2014LysfsTer3) c.6586del (p.Glu2196LysfsTer3) c.6403del (p.Glu2135LysfsTer3) c.6124del (p.Glu2042LysfsTer3) c.5167del (p.Glu1723LysfsTer3) c.5158del (p.Glu1720LysfsTer3) | COSMIC COSMIC |
| 5 | g.37049131G>A | CA359508728 | NIPBL | c.6784G>A (p.Glu2262Lys) c.1-15447G>A (n.1-15447G>A) c.6040G>A (p.Glu2014Lys) c.6586G>A (p.Glu2196Lys) c.6403G>A (p.Glu2135Lys) c.6124G>A (p.Glu2042Lys) c.5167G>A (p.Glu1723Lys) c.5158G>A (p.Glu1720Lys) | |
| 5 | g.37049131G>C | CA359508729 | NIPBL | c.6784G>C (p.Glu2262Gln) c.1-15447G>C (n.1-15447G>C) c.6040G>C (p.Glu2014Gln) c.6586G>C (p.Glu2196Gln) c.6403G>C (p.Glu2135Gln) c.6124G>C (p.Glu2042Gln) c.5167G>C (p.Glu1723Gln) c.5158G>C (p.Glu1720Gln) | |
| 5 | g.37049131G>T | CA359508730 | NIPBL | c.6784G>T (p.Glu2262Ter) c.1-15447G>T (n.1-15447G>T) c.6040G>T (p.Glu2014Ter) c.6586G>T (p.Glu2196Ter) c.6403G>T (p.Glu2135Ter) c.6124G>T (p.Glu2042Ter) c.5167G>T (p.Glu1723Ter) c.5158G>T (p.Glu1720Ter) | |
| 5 | g.37049132A>C | CA359508731 | NIPBL | c.6785A>C (p.Glu2262Ala) c.1-15446A>C (n.1-15446A>C) c.6041A>C (p.Glu2014Ala) c.6587A>C (p.Glu2196Ala) c.6404A>C (p.Glu2135Ala) c.6125A>C (p.Glu2042Ala) c.5168A>C (p.Glu1723Ala) c.5159A>C (p.Glu1720Ala) | |
| 5 | g.37049132A>G | CA359508732 | NIPBL | c.6785A>G (p.Glu2262Gly) c.1-15446A>G (n.1-15446A>G) c.6041A>G (p.Glu2014Gly) c.6587A>G (p.Glu2196Gly) c.6404A>G (p.Glu2135Gly) c.6125A>G (p.Glu2042Gly) c.5168A>G (p.Glu1723Gly) c.5159A>G (p.Glu1720Gly) | |
| 5 | g.37049132A>T | CA359508733 | NIPBL | c.6785A>T (p.Glu2262Val) c.1-15446A>T (n.1-15446A>T) c.6041A>T (p.Glu2014Val) c.6587A>T (p.Glu2196Val) c.6404A>T (p.Glu2135Val) c.6125A>T (p.Glu2042Val) c.5168A>T (p.Glu1723Val) c.5159A>T (p.Glu1720Val) | |
| 5 | g.37049133A>C | CA359508735 | NIPBL | c.6786A>C (p.Glu2262Asp) c.1-15445A>C (n.1-15445A>C) c.6042A>C (p.Glu2014Asp) c.6588A>C (p.Glu2196Asp) c.6405A>C (p.Glu2135Asp) c.6126A>C (p.Glu2042Asp) c.5169A>C (p.Glu1723Asp) c.5160A>C (p.Glu1720Asp) | |
| 5 | g.37049133A>G | CA443907798 | NIPBL | c.6786A>G (p.Glu2262=) c.1-15445A>G (n.1-15445A>G) c.6042A>G (p.Glu2014=) c.6588A>G (p.Glu2196=) c.6405A>G (p.Glu2135=) c.6126A>G (p.Glu2042=) c.5169A>G (p.Glu1723=) c.5160A>G (p.Glu1720=) | gnomAD v4 |
| 5 | g.37049133A>T | CA359508734 | NIPBL | c.6786A>T (p.Glu2262Asp) c.1-15445A>T (n.1-15445A>T) c.6042A>T (p.Glu2014Asp) c.6588A>T (p.Glu2196Asp) c.6405A>T (p.Glu2135Asp) c.6126A>T (p.Glu2042Asp) c.5169A>T (p.Glu1723Asp) c.5160A>T (p.Glu1720Asp) | |
| 5 | g.37049134G>A | CA359508736 | NIPBL | c.6787G>A (p.Asp2263Asn) c.1-15444G>A (n.1-15444G>A) c.6043G>A (p.Asp2015Asn) c.6589G>A (p.Asp2197Asn) c.6406G>A (p.Asp2136Asn) c.6127G>A (p.Asp2043Asn) c.5170G>A (p.Asp1724Asn) c.5161G>A (p.Asp1721Asn) | |
| 5 | g.37049134G>C | CA359508737 | NIPBL | c.6787G>C (p.Asp2263His) c.1-15444G>C (n.1-15444G>C) c.6043G>C (p.Asp2015His) c.6589G>C (p.Asp2197His) c.6406G>C (p.Asp2136His) c.6127G>C (p.Asp2043His) c.5170G>C (p.Asp1724His) c.5161G>C (p.Asp1721His) | |
| 5 | g.37049134G>T | CA359508738 | NIPBL | c.6787G>T (p.Asp2263Tyr) c.1-15444G>T (n.1-15444G>T) c.6043G>T (p.Asp2015Tyr) c.6589G>T (p.Asp2197Tyr) c.6406G>T (p.Asp2136Tyr) c.6127G>T (p.Asp2043Tyr) c.5170G>T (p.Asp1724Tyr) c.5161G>T (p.Asp1721Tyr) | |
| 5 | g.37049135A>C | CA359508739 | NIPBL | c.6788A>C (p.Asp2263Ala) c.1-15443A>C (n.1-15443A>C) c.6044A>C (p.Asp2015Ala) c.6590A>C (p.Asp2197Ala) c.6407A>C (p.Asp2136Ala) c.6128A>C (p.Asp2043Ala) c.5171A>C (p.Asp1724Ala) c.5162A>C (p.Asp1721Ala) | |
| 5 | g.37049135A>G | CA359508740 | NIPBL | c.6788A>G (p.Asp2263Gly) c.1-15443A>G (n.1-15443A>G) c.6044A>G (p.Asp2015Gly) c.6590A>G (p.Asp2197Gly) c.6407A>G (p.Asp2136Gly) c.6128A>G (p.Asp2043Gly) c.5171A>G (p.Asp1724Gly) c.5162A>G (p.Asp1721Gly) | |
| 5 | g.37049135A>T | CA359508741 | NIPBL | c.6788A>T (p.Asp2263Val) c.1-15443A>T (n.1-15443A>T) c.6044A>T (p.Asp2015Val) c.6590A>T (p.Asp2197Val) c.6407A>T (p.Asp2136Val) c.6128A>T (p.Asp2043Val) c.5171A>T (p.Asp1724Val) c.5162A>T (p.Asp1721Val) | |
| 5 | g.37049136C>A | CA359508742 | NIPBL | c.6789C>A (p.Asp2263Glu) c.1-15442C>A (n.1-15442C>A) c.6045C>A (p.Asp2015Glu) c.6591C>A (p.Asp2197Glu) c.6408C>A (p.Asp2136Glu) c.6129C>A (p.Asp2043Glu) c.5172C>A (p.Asp1724Glu) c.5163C>A (p.Asp1721Glu) | |
| 5 | g.37049136C>G | CA359508743 | NIPBL | c.6789C>G (p.Asp2263Glu) c.1-15442C>G (n.1-15442C>G) c.6045C>G (p.Asp2015Glu) c.6591C>G (p.Asp2197Glu) c.6408C>G (p.Asp2136Glu) c.6129C>G (p.Asp2043Glu) c.5172C>G (p.Asp1724Glu) c.5163C>G (p.Asp1721Glu) | |
| 5 | g.37049136C>T | CA443907811 | NIPBL | c.6789C>T (p.Asp2263=) c.1-15442C>T (n.1-15442C>T) c.6045C>T (p.Asp2015=) c.6591C>T (p.Asp2197=) c.6408C>T (p.Asp2136=) c.6129C>T (p.Asp2043=) c.5172C>T (p.Asp1724=) c.5163C>T (p.Asp1721=) | gnomAD v4 |
| 5 | g.37049137T>A | CA359508744 | NIPBL | c.6790T>A (p.Leu2264Ile) c.1-15441T>A (n.1-15441T>A) c.6046T>A (p.Leu2016Ile) c.6592T>A (p.Leu2198Ile) c.6409T>A (p.Leu2137Ile) c.6130T>A (p.Leu2044Ile) c.5173T>A (p.Leu1725Ile) c.5164T>A (p.Leu1722Ile) | |
| 5 | g.37049137T>C | CA443907815 | NIPBL | c.6790T>C (p.Leu2264=) c.1-15441T>C (n.1-15441T>C) c.6046T>C (p.Leu2016=) c.6592T>C (p.Leu2198=) c.6409T>C (p.Leu2137=) c.6130T>C (p.Leu2044=) c.5173T>C (p.Leu1725=) c.5164T>C (p.Leu1722=) | dbSNP gnomAD v4 |
| 5 | g.37049137T>G | CA359508745 | NIPBL | c.6790T>G (p.Leu2264Val) c.1-15441T>G (n.1-15441T>G) c.6046T>G (p.Leu2016Val) c.6592T>G (p.Leu2198Val) c.6409T>G (p.Leu2137Val) c.6130T>G (p.Leu2044Val) c.5173T>G (p.Leu1725Val) c.5164T>G (p.Leu1722Val) | |
| 5 | g.37049137T= | CA1539568342 | NIPBL | c.6790T= (p.Leu2264=) c.1-15441T= (n.1-15441T=) c.6046T= (p.Leu2016=) c.6592T= (p.Leu2198=) c.6409T= (p.Leu2137=) c.6130T= (p.Leu2044=) c.5173T= (p.Leu1725=) c.5164T= (p.Leu1722=) | |
| 5 | g.37049138T>A | CA359508746 | NIPBL | c.6791T>A (p.Leu2264Ter) c.1-15440T>A (n.1-15440T>A) c.6047T>A (p.Leu2016Ter) c.6593T>A (p.Leu2198Ter) c.6410T>A (p.Leu2137Ter) c.6131T>A (p.Leu2044Ter) c.5174T>A (p.Leu1725Ter) c.5165T>A (p.Leu1722Ter) | |
| 5 | g.37049138T>C | CA359508747 | NIPBL | c.6791T>C (p.Leu2264Ser) c.1-15440T>C (n.1-15440T>C) c.6047T>C (p.Leu2016Ser) c.6593T>C (p.Leu2198Ser) c.6410T>C (p.Leu2137Ser) c.6131T>C (p.Leu2044Ser) c.5174T>C (p.Leu1725Ser) c.5165T>C (p.Leu1722Ser) | |
| 5 | g.37049138T>G | CA359508748 | NIPBL | c.6791T>G (p.Leu2264Ter) c.1-15440T>G (n.1-15440T>G) c.6047T>G (p.Leu2016Ter) c.6593T>G (p.Leu2198Ter) c.6410T>G (p.Leu2137Ter) c.6131T>G (p.Leu2044Ter) c.5174T>G (p.Leu1725Ter) c.5165T>G (p.Leu1722Ter) | |
| 5 | g.37049139A= | CA1539568344 | NIPBL | c.6792A= (p.Leu2264=) c.1-15439A= (n.1-15439A=) c.6048A= (p.Leu2016=) c.6594A= (p.Leu2198=) c.6411A= (p.Leu2137=) c.6132A= (p.Leu2044=) c.5175A= (p.Leu1725=) c.5166A= (p.Leu1722=) | |
| 5 | g.37049139A>C | CA359508750 | NIPBL | c.6792A>C (p.Leu2264Phe) c.1-15439A>C (n.1-15439A>C) c.6048A>C (p.Leu2016Phe) c.6594A>C (p.Leu2198Phe) c.6411A>C (p.Leu2137Phe) c.6132A>C (p.Leu2044Phe) c.5175A>C (p.Leu1725Phe) c.5166A>C (p.Leu1722Phe) | |
| 5 | g.37049139A>G | CA443907825 | NIPBL | c.6792A>G (p.Leu2264=) c.1-15439A>G (n.1-15439A>G) c.6048A>G (p.Leu2016=) c.6594A>G (p.Leu2198=) c.6411A>G (p.Leu2137=) c.6132A>G (p.Leu2044=) c.5175A>G (p.Leu1725=) c.5166A>G (p.Leu1722=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37049139A>T | CA359508749 | NIPBL | c.6792A>T (p.Leu2264Phe) c.1-15439A>T (n.1-15439A>T) c.6048A>T (p.Leu2016Phe) c.6594A>T (p.Leu2198Phe) c.6411A>T (p.Leu2137Phe) c.6132A>T (p.Leu2044Phe) c.5175A>T (p.Leu1725Phe) c.5166A>T (p.Leu1722Phe) | |
| 5 | g.37049140A>C | CA359508751 | NIPBL | c.6793A>C (p.Lys2265Gln) c.1-15438A>C (n.1-15438A>C) c.6049A>C (p.Lys2017Gln) c.6595A>C (p.Lys2199Gln) c.6412A>C (p.Lys2138Gln) c.6133A>C (p.Lys2045Gln) c.5176A>C (p.Lys1726Gln) c.5167A>C (p.Lys1723Gln) | |
| 5 | g.37049140A>G | CA359508752 | NIPBL | c.6793A>G (p.Lys2265Glu) c.1-15438A>G (n.1-15438A>G) c.6049A>G (p.Lys2017Glu) c.6595A>G (p.Lys2199Glu) c.6412A>G (p.Lys2138Glu) c.6133A>G (p.Lys2045Glu) c.5176A>G (p.Lys1726Glu) c.5167A>G (p.Lys1723Glu) | |
| 5 | g.37049140A>T | CA359508753 | NIPBL | c.6793A>T (p.Lys2265Ter) c.1-15438A>T (n.1-15438A>T) c.6049A>T (p.Lys2017Ter) c.6595A>T (p.Lys2199Ter) c.6412A>T (p.Lys2138Ter) c.6133A>T (p.Lys2045Ter) c.5176A>T (p.Lys1726Ter) c.5167A>T (p.Lys1723Ter) | |
| 5 | g.37049141A= | CA1539568348 | NIPBL | c.6794A= (p.Lys2265=) c.1-15437A= (n.1-15437A=) c.6050A= (p.Lys2017=) c.6596A= (p.Lys2199=) c.6413A= (p.Lys2138=) c.6134A= (p.Lys2045=) c.5177A= (p.Lys1726=) c.5168A= (p.Lys1723=) | |
| 5 | g.37049141A>C | CA359508754 | NIPBL | c.6794A>C (p.Lys2265Thr) c.1-15437A>C (n.1-15437A>C) c.6050A>C (p.Lys2017Thr) c.6596A>C (p.Lys2199Thr) c.6413A>C (p.Lys2138Thr) c.6134A>C (p.Lys2045Thr) c.5177A>C (p.Lys1726Thr) c.5168A>C (p.Lys1723Thr) | |
| 5 | g.37049141A>G | CA359508755 | NIPBL | c.6794A>G (p.Lys2265Arg) c.1-15437A>G (n.1-15437A>G) c.6050A>G (p.Lys2017Arg) c.6596A>G (p.Lys2199Arg) c.6413A>G (p.Lys2138Arg) c.6134A>G (p.Lys2045Arg) c.5177A>G (p.Lys1726Arg) c.5168A>G (p.Lys1723Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049141A>T | CA359508756 | NIPBL | c.6794A>T (p.Lys2265Ile) c.1-15437A>T (n.1-15437A>T) c.6050A>T (p.Lys2017Ile) c.6596A>T (p.Lys2199Ile) c.6413A>T (p.Lys2138Ile) c.6134A>T (p.Lys2045Ile) c.5177A>T (p.Lys1726Ile) c.5168A>T (p.Lys1723Ile) | |
| 5 | g.37049142A= | CA1539568351 | NIPBL | c.6795A= (p.Lys2265=) c.1-15436A= (n.1-15436A=) c.6051A= (p.Lys2017=) c.6597A= (p.Lys2199=) c.6414A= (p.Lys2138=) c.6135A= (p.Lys2045=) c.5178A= (p.Lys1726=) c.5169A= (p.Lys1723=) | |
| 5 | g.37049142A>C | CA359508757 | NIPBL | c.6795A>C (p.Lys2265Asn) c.1-15436A>C (n.1-15436A>C) c.6051A>C (p.Lys2017Asn) c.6597A>C (p.Lys2199Asn) c.6414A>C (p.Lys2138Asn) c.6135A>C (p.Lys2045Asn) c.5178A>C (p.Lys1726Asn) c.5169A>C (p.Lys1723Asn) | |
| 5 | g.37049142A>G | CA443907837 | NIPBL | c.6795A>G (p.Lys2265=) c.1-15436A>G (n.1-15436A>G) c.6051A>G (p.Lys2017=) c.6597A>G (p.Lys2199=) c.6414A>G (p.Lys2138=) c.6135A>G (p.Lys2045=) c.5178A>G (p.Lys1726=) c.5169A>G (p.Lys1723=) | |
| 5 | g.37049142A>T | CA3237073 | NIPBL | c.6795A>T (p.Lys2265Asn) c.1-15436A>T (n.1-15436A>T) c.6051A>T (p.Lys2017Asn) c.6597A>T (p.Lys2199Asn) c.6414A>T (p.Lys2138Asn) c.6135A>T (p.Lys2045Asn) c.5178A>T (p.Lys1726Asn) c.5169A>T (p.Lys1723Asn) | dbSNP ExAC gnomAD v2 |
| 5 | g.37049143G>A | CA359508758 | NIPBL | c.6796G>A (p.Glu2266Lys) c.1-15435G>A (n.1-15435G>A) c.6052G>A (p.Glu2018Lys) c.6598G>A (p.Glu2200Lys) c.6415G>A (p.Glu2139Lys) c.6136G>A (p.Glu2046Lys) c.5179G>A (p.Glu1727Lys) c.5170G>A (p.Glu1724Lys) | |
| 5 | g.37049143G>C | CA359508759 | NIPBL | c.6796G>C (p.Glu2266Gln) c.1-15435G>C (n.1-15435G>C) c.6052G>C (p.Glu2018Gln) c.6598G>C (p.Glu2200Gln) c.6415G>C (p.Glu2139Gln) c.6136G>C (p.Glu2046Gln) c.5179G>C (p.Glu1727Gln) c.5170G>C (p.Glu1724Gln) | |
| 5 | g.37049143G= | CA1539568356 | NIPBL | c.6796G= (p.Glu2266=) c.1-15435G= (n.1-15435G=) c.6052G= (p.Glu2018=) c.6598G= (p.Glu2200=) c.6415G= (p.Glu2139=) c.6136G= (p.Glu2046=) c.5179G= (p.Glu1727=) c.5170G= (p.Glu1724=) | |
| 5 | g.37049143G>T | CA359508760 | NIPBL | c.6796G>T (p.Glu2266Ter) c.1-15435G>T (n.1-15435G>T) c.6052G>T (p.Glu2018Ter) c.6598G>T (p.Glu2200Ter) c.6415G>T (p.Glu2139Ter) c.6136G>T (p.Glu2046Ter) c.5179G>T (p.Glu1727Ter) c.5170G>T (p.Glu1724Ter) | ClinVar dbSNP |
| 5 | g.37049144A>C | CA359508761 | NIPBL | c.6797A>C (p.Glu2266Ala) c.1-15434A>C (n.1-15434A>C) c.6053A>C (p.Glu2018Ala) c.6599A>C (p.Glu2200Ala) c.6416A>C (p.Glu2139Ala) c.6137A>C (p.Glu2046Ala) c.5180A>C (p.Glu1727Ala) c.5171A>C (p.Glu1724Ala) | |
| 5 | g.37049144A>G | CA359508762 | NIPBL | c.6797A>G (p.Glu2266Gly) c.1-15434A>G (n.1-15434A>G) c.6053A>G (p.Glu2018Gly) c.6599A>G (p.Glu2200Gly) c.6416A>G (p.Glu2139Gly) c.6137A>G (p.Glu2046Gly) c.5180A>G (p.Glu1727Gly) c.5171A>G (p.Glu1724Gly) | |
| 5 | g.37049144A>T | CA359508763 | NIPBL | c.6797A>T (p.Glu2266Val) c.1-15434A>T (n.1-15434A>T) c.6053A>T (p.Glu2018Val) c.6599A>T (p.Glu2200Val) c.6416A>T (p.Glu2139Val) c.6137A>T (p.Glu2046Val) c.5180A>T (p.Glu1727Val) c.5171A>T (p.Glu1724Val) | |
| 5 | g.37049145A>C | CA359508765 | NIPBL | c.6798A>C (p.Glu2266Asp) c.1-15433A>C (n.1-15433A>C) c.6054A>C (p.Glu2018Asp) c.6600A>C (p.Glu2200Asp) c.6417A>C (p.Glu2139Asp) c.6138A>C (p.Glu2046Asp) c.5181A>C (p.Glu1727Asp) c.5172A>C (p.Glu1724Asp) | |
| 5 | g.37049145A>G | CA443907850 | NIPBL | c.6798A>G (p.Glu2266=) c.1-15433A>G (n.1-15433A>G) c.6054A>G (p.Glu2018=) c.6600A>G (p.Glu2200=) c.6417A>G (p.Glu2139=) c.6138A>G (p.Glu2046=) c.5181A>G (p.Glu1727=) c.5172A>G (p.Glu1724=) | |
| 5 | g.37049145A>T | CA359508764 | NIPBL | c.6798A>T (p.Glu2266Asp) c.1-15433A>T (n.1-15433A>T) c.6054A>T (p.Glu2018Asp) c.6600A>T (p.Glu2200Asp) c.6417A>T (p.Glu2139Asp) c.6138A>T (p.Glu2046Asp) c.5181A>T (p.Glu1727Asp) c.5172A>T (p.Glu1724Asp) | |
| 5 | g.37049146A>C | CA359508766 | NIPBL | c.6799A>C (p.Met2267Leu) c.1-15432A>C (n.1-15432A>C) c.6055A>C (p.Met2019Leu) c.6601A>C (p.Met2201Leu) c.6418A>C (p.Met2140Leu) c.6139A>C (p.Met2047Leu) c.5182A>C (p.Met1728Leu) c.5173A>C (p.Met1725Leu) | |
| 5 | g.37049146A>G | CA359508767 | NIPBL | c.6799A>G (p.Met2267Val) c.1-15432A>G (n.1-15432A>G) c.6055A>G (p.Met2019Val) c.6601A>G (p.Met2201Val) c.6418A>G (p.Met2140Val) c.6139A>G (p.Met2047Val) c.5182A>G (p.Met1728Val) c.5173A>G (p.Met1725Val) | |
| 5 | g.37049146A>T | CA359508768 | NIPBL | c.6799A>T (p.Met2267Leu) c.1-15432A>T (n.1-15432A>T) c.6055A>T (p.Met2019Leu) c.6601A>T (p.Met2201Leu) c.6418A>T (p.Met2140Leu) c.6139A>T (p.Met2047Leu) c.5182A>T (p.Met1728Leu) c.5173A>T (p.Met1725Leu) | |
| 5 | g.37049147T>A | CA359508769 | NIPBL | c.6800T>A (p.Met2267Lys) c.1-15431T>A (n.1-15431T>A) c.6056T>A (p.Met2019Lys) c.6602T>A (p.Met2201Lys) c.6419T>A (p.Met2140Lys) c.6140T>A (p.Met2047Lys) c.5183T>A (p.Met1728Lys) c.5174T>A (p.Met1725Lys) | |
| 5 | g.37049147T>C | CA359508770 | NIPBL | c.6800T>C (p.Met2267Thr) c.1-15431T>C (n.1-15431T>C) c.6056T>C (p.Met2019Thr) c.6602T>C (p.Met2201Thr) c.6419T>C (p.Met2140Thr) c.6140T>C (p.Met2047Thr) c.5183T>C (p.Met1728Thr) c.5174T>C (p.Met1725Thr) | |
| 5 | g.37049147T>G | CA276999 | NIPBL | c.6800T>G (p.Met2267Arg) c.1-15431T>G (n.1-15431T>G) c.6056T>G (p.Met2019Arg) c.6602T>G (p.Met2201Arg) c.6419T>G (p.Met2140Arg) c.6140T>G (p.Met2047Arg) c.5183T>G (p.Met1728Arg) c.5174T>G (p.Met1725Arg) | ClinVar dbSNP |
| 5 | g.37049147T= | CA1539568362 | NIPBL | c.6800T= (p.Met2267=) c.1-15431T= (n.1-15431T=) c.6056T= (p.Met2019=) c.6602T= (p.Met2201=) c.6419T= (p.Met2140=) c.6140T= (p.Met2047=) c.5183T= (p.Met1728=) c.5174T= (p.Met1725=) | |
| 5 | g.37049148G>A | CA359508773 | NIPBL | c.6801G>A (p.Met2267Ile) c.1-15430G>A (n.1-15430G>A) c.6057G>A (p.Met2019Ile) c.6603G>A (p.Met2201Ile) c.6420G>A (p.Met2140Ile) c.6141G>A (p.Met2047Ile) c.5184G>A (p.Met1728Ile) c.5175G>A (p.Met1725Ile) | gnomAD v4 |
| 5 | g.37049148G>C | CA359508772 | NIPBL | c.6801G>C (p.Met2267Ile) c.1-15430G>C (n.1-15430G>C) c.6057G>C (p.Met2019Ile) c.6603G>C (p.Met2201Ile) c.6420G>C (p.Met2140Ile) c.6141G>C (p.Met2047Ile) c.5184G>C (p.Met1728Ile) c.5175G>C (p.Met1725Ile) | |
| 5 | g.37049148G>T | CA359508771 | NIPBL | c.6801G>T (p.Met2267Ile) c.1-15430G>T (n.1-15430G>T) c.6057G>T (p.Met2019Ile) c.6603G>T (p.Met2201Ile) c.6420G>T (p.Met2140Ile) c.6141G>T (p.Met2047Ile) c.5184G>T (p.Met1728Ile) c.5175G>T (p.Met1725Ile) | |
| 5 | g.37049150del | CA2695204424 | NIPBL | c.6803del (p.Gly2268ValfsTer7) c.1-15428del (n.1-15428del) c.6059del (p.Gly2020ValfsTer7) c.6605del (p.Gly2202ValfsTer7) c.6422del (p.Gly2141ValfsTer7) c.6143del (p.Gly2048ValfsTer7) c.5186del (p.Gly1729ValfsTer7) c.5177del (p.Gly1726ValfsTer7) | |
| 5 | g.37049149G>A | CA359508774 | NIPBL | c.6802G>A (p.Gly2268Ser) c.1-15429G>A (n.1-15429G>A) c.6058G>A (p.Gly2020Ser) c.6604G>A (p.Gly2202Ser) c.6421G>A (p.Gly2141Ser) c.6142G>A (p.Gly2048Ser) c.5185G>A (p.Gly1729Ser) c.5176G>A (p.Gly1726Ser) | |
| 5 | g.37049149G>C | CA359508775 | NIPBL | c.6802G>C (p.Gly2268Arg) c.1-15429G>C (n.1-15429G>C) c.6058G>C (p.Gly2020Arg) c.6604G>C (p.Gly2202Arg) c.6421G>C (p.Gly2141Arg) c.6142G>C (p.Gly2048Arg) c.5185G>C (p.Gly1729Arg) c.5176G>C (p.Gly1726Arg) | |
| 5 | g.37049149G>T | CA359508776 | NIPBL | c.6802G>T (p.Gly2268Cys) c.1-15429G>T (n.1-15429G>T) c.6058G>T (p.Gly2020Cys) c.6604G>T (p.Gly2202Cys) c.6421G>T (p.Gly2141Cys) c.6142G>T (p.Gly2048Cys) c.5185G>T (p.Gly1729Cys) c.5176G>T (p.Gly1726Cys) | |
| 5 | g.37049150G>A | CA359508777 | NIPBL | c.6803G>A (p.Gly2268Asp) c.1-15428G>A (n.1-15428G>A) c.6059G>A (p.Gly2020Asp) c.6605G>A (p.Gly2202Asp) c.6422G>A (p.Gly2141Asp) c.6143G>A (p.Gly2048Asp) c.5186G>A (p.Gly1729Asp) c.5177G>A (p.Gly1726Asp) | |
| 5 | g.37049150G>C | CA359508778 | NIPBL | c.6803G>C (p.Gly2268Ala) c.1-15428G>C (n.1-15428G>C) c.6059G>C (p.Gly2020Ala) c.6605G>C (p.Gly2202Ala) c.6422G>C (p.Gly2141Ala) c.6143G>C (p.Gly2048Ala) c.5186G>C (p.Gly1729Ala) c.5177G>C (p.Gly1726Ala) | |
| 5 | g.37049150G>T | CA359508779 | NIPBL | c.6803G>T (p.Gly2268Val) c.1-15428G>T (n.1-15428G>T) c.6059G>T (p.Gly2020Val) c.6605G>T (p.Gly2202Val) c.6422G>T (p.Gly2141Val) c.6143G>T (p.Gly2048Val) c.5186G>T (p.Gly1729Val) c.5177G>T (p.Gly1726Val) | |
| 5 | g.37049151T>A | CA443907876 | NIPBL | c.6804T>A (p.Gly2268=) c.1-15427T>A (n.1-15427T>A) c.6060T>A (p.Gly2020=) c.6606T>A (p.Gly2202=) c.6423T>A (p.Gly2141=) c.6144T>A (p.Gly2048=) c.5187T>A (p.Gly1729=) c.5178T>A (p.Gly1726=) | |
| 5 | g.37049151T>C | CA443907878 | NIPBL | c.6804T>C (p.Gly2268=) c.1-15427T>C (n.1-15427T>C) c.6060T>C (p.Gly2020=) c.6606T>C (p.Gly2202=) c.6423T>C (p.Gly2141=) c.6144T>C (p.Gly2048=) c.5187T>C (p.Gly1729=) c.5178T>C (p.Gly1726=) | |
| 5 | g.37049151T>G | CA443907879 | NIPBL | c.6804T>G (p.Gly2268=) c.1-15427T>G (n.1-15427T>G) c.6060T>G (p.Gly2020=) c.6606T>G (p.Gly2202=) c.6423T>G (p.Gly2141=) c.6144T>G (p.Gly2048=) c.5187T>G (p.Gly1729=) c.5178T>G (p.Gly1726=) | |
| 5 | g.37049152G>A | CA359508780 | NIPBL | c.6805G>A (p.Asp2269Asn) c.1-15426G>A (n.1-15426G>A) c.6061G>A (p.Asp2021Asn) c.6607G>A (p.Asp2203Asn) c.6424G>A (p.Asp2142Asn) c.6145G>A (p.Asp2049Asn) c.5188G>A (p.Asp1730Asn) c.5179G>A (p.Asp1727Asn) | |
| 5 | g.37049152G>C | CA359508782 | NIPBL | c.6805G>C (p.Asp2269His) c.1-15426G>C (n.1-15426G>C) c.6061G>C (p.Asp2021His) c.6607G>C (p.Asp2203His) c.6424G>C (p.Asp2142His) c.6145G>C (p.Asp2049His) c.5188G>C (p.Asp1730His) c.5179G>C (p.Asp1727His) | |
| 5 | g.37049152G>T | CA359508781 | NIPBL | c.6805G>T (p.Asp2269Tyr) c.1-15426G>T (n.1-15426G>T) c.6061G>T (p.Asp2021Tyr) c.6607G>T (p.Asp2203Tyr) c.6424G>T (p.Asp2142Tyr) c.6145G>T (p.Asp2049Tyr) c.5188G>T (p.Asp1730Tyr) c.5179G>T (p.Asp1727Tyr) | |
| 5 | g.37049153A>C | CA359508783 | NIPBL | c.6806A>C (p.Asp2269Ala) c.1-15425A>C (n.1-15425A>C) c.6062A>C (p.Asp2021Ala) c.6608A>C (p.Asp2203Ala) c.6425A>C (p.Asp2142Ala) c.6146A>C (p.Asp2049Ala) c.5189A>C (p.Asp1730Ala) c.5180A>C (p.Asp1727Ala) | |
| 5 | g.37049153A>G | CA359508784 | NIPBL | c.6806A>G (p.Asp2269Gly) c.1-15425A>G (n.1-15425A>G) c.6062A>G (p.Asp2021Gly) c.6608A>G (p.Asp2203Gly) c.6425A>G (p.Asp2142Gly) c.6146A>G (p.Asp2049Gly) c.5189A>G (p.Asp1730Gly) c.5180A>G (p.Asp1727Gly) | |
| 5 | g.37049153A>T | CA359508785 | NIPBL | c.6806A>T (p.Asp2269Val) c.1-15425A>T (n.1-15425A>T) c.6062A>T (p.Asp2021Val) c.6608A>T (p.Asp2203Val) c.6425A>T (p.Asp2142Val) c.6146A>T (p.Asp2049Val) c.5189A>T (p.Asp1730Val) c.5180A>T (p.Asp1727Val) | |
| 5 | g.37049154T>A | CA359508786 | NIPBL | c.6807T>A (p.Asp2269Glu) c.1-15424T>A (n.1-15424T>A) c.6063T>A (p.Asp2021Glu) c.6609T>A (p.Asp2203Glu) c.6426T>A (p.Asp2142Glu) c.6147T>A (p.Asp2049Glu) c.5190T>A (p.Asp1730Glu) c.5181T>A (p.Asp1727Glu) | |
| 5 | g.37049154T>C | CA3237074 | NIPBL | c.6807T>C (p.Asp2269=) c.1-15424T>C (n.1-15424T>C) c.6063T>C (p.Asp2021=) c.6609T>C (p.Asp2203=) c.6426T>C (p.Asp2142=) c.6147T>C (p.Asp2049=) c.5190T>C (p.Asp1730=) c.5181T>C (p.Asp1727=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049154T>G | CA359508787 | NIPBL | c.6807T>G (p.Asp2269Glu) c.1-15424T>G (n.1-15424T>G) c.6063T>G (p.Asp2021Glu) c.6609T>G (p.Asp2203Glu) c.6426T>G (p.Asp2142Glu) c.6147T>G (p.Asp2049Glu) c.5190T>G (p.Asp1730Glu) c.5181T>G (p.Asp1727Glu) | |
| 5 | g.37049154T= | CA1539568369 | NIPBL | c.6807T= (p.Asp2269=) c.1-15424T= (n.1-15424T=) c.6063T= (p.Asp2021=) c.6609T= (p.Asp2203=) c.6426T= (p.Asp2142=) c.6147T= (p.Asp2049=) c.5190T= (p.Asp1730=) c.5181T= (p.Asp1727=) | |
| 5 | g.37049155G>A | CA359508788 | NIPBL | c.6808G>A (p.Val2270Ile) c.1-15423G>A (n.1-15423G>A) c.6064G>A (p.Val2022Ile) c.6610G>A (p.Val2204Ile) c.6427G>A (p.Val2143Ile) c.6148G>A (p.Val2050Ile) c.5191G>A (p.Val1731Ile) c.5182G>A (p.Val1728Ile) | gnomAD v4 |
| 5 | g.37049155G>C | CA359508789 | NIPBL | c.6808G>C (p.Val2270Leu) c.1-15423G>C (n.1-15423G>C) c.6064G>C (p.Val2022Leu) c.6610G>C (p.Val2204Leu) c.6427G>C (p.Val2143Leu) c.6148G>C (p.Val2050Leu) c.5191G>C (p.Val1731Leu) c.5182G>C (p.Val1728Leu) | |
| 5 | g.37049155G= | CA1539568371 | NIPBL | c.6808G= (p.Val2270=) c.1-15423G= (n.1-15423G=) c.6064G= (p.Val2022=) c.6610G= (p.Val2204=) c.6427G= (p.Val2143=) c.6148G= (p.Val2050=) c.5191G= (p.Val1731=) c.5182G= (p.Val1728=) | |
| 5 | g.37049155G>T | CA359508790 | NIPBL | c.6808G>T (p.Val2270Phe) c.1-15423G>T (n.1-15423G>T) c.6064G>T (p.Val2022Phe) c.6610G>T (p.Val2204Phe) c.6427G>T (p.Val2143Phe) c.6148G>T (p.Val2050Phe) c.5191G>T (p.Val1731Phe) c.5182G>T (p.Val1728Phe) | |
| 5 | g.37049156T>A | CA359508791 | NIPBL | c.6809T>A (p.Val2270Asp) c.1-15422T>A (n.1-15422T>A) c.6065T>A (p.Val2022Asp) c.6611T>A (p.Val2204Asp) c.6428T>A (p.Val2143Asp) c.6149T>A (p.Val2050Asp) c.5192T>A (p.Val1731Asp) c.5183T>A (p.Val1728Asp) | |
| 5 | g.37049156T>C | CA359508792 | NIPBL | c.6809T>C (p.Val2270Ala) c.1-15422T>C (n.1-15422T>C) c.6065T>C (p.Val2022Ala) c.6611T>C (p.Val2204Ala) c.6428T>C (p.Val2143Ala) c.6149T>C (p.Val2050Ala) c.5192T>C (p.Val1731Ala) c.5183T>C (p.Val1728Ala) | |
| 5 | g.37049156T>G | CA359508793 | NIPBL | c.6809T>G (p.Val2270Gly) c.1-15422T>G (n.1-15422T>G) c.6065T>G (p.Val2022Gly) c.6611T>G (p.Val2204Gly) c.6428T>G (p.Val2143Gly) c.6149T>G (p.Val2050Gly) c.5192T>G (p.Val1731Gly) c.5183T>G (p.Val1728Gly) | |
| 5 | g.37049158dup | CA277071 | NIPBL | c.6811dup (p.Ser2271PhefsTer6) c.1-15420dup (n.1-15420dup) c.6067dup (p.Ser2023PhefsTer6) c.6613dup (p.Ser2205PhefsTer6) c.6430dup (p.Ser2144PhefsTer6) c.6151dup (p.Ser2051PhefsTer6) c.5194dup (p.Ser1732PhefsTer6) c.5185dup (p.Ser1729PhefsTer6) | ClinVar dbSNP |
| 5 | g.37049157T>A | CA443907904 | NIPBL | c.6810T>A (p.Val2270=) c.1-15421T>A (n.1-15421T>A) c.6066T>A (p.Val2022=) c.6612T>A (p.Val2204=) c.6429T>A (p.Val2143=) c.6150T>A (p.Val2050=) c.5193T>A (p.Val1731=) c.5184T>A (p.Val1728=) | |
| 5 | g.37049157T>C | CA443907906 | NIPBL | c.6810T>C (p.Val2270=) c.1-15421T>C (n.1-15421T>C) c.6066T>C (p.Val2022=) c.6612T>C (p.Val2204=) c.6429T>C (p.Val2143=) c.6150T>C (p.Val2050=) c.5193T>C (p.Val1731=) c.5184T>C (p.Val1728=) | |
| 5 | g.37049157T>G | CA443907908 | NIPBL | c.6810T>G (p.Val2270=) c.1-15421T>G (n.1-15421T>G) c.6066T>G (p.Val2022=) c.6612T>G (p.Val2204=) c.6429T>G (p.Val2143=) c.6150T>G (p.Val2050=) c.5193T>G (p.Val1731=) c.5184T>G (p.Val1728=) | |
| 5 | g.37049158T>A | CA359508796 | NIPBL | c.6811T>A (p.Ser2271Thr) c.1-15420T>A (n.1-15420T>A) c.6067T>A (p.Ser2023Thr) c.6613T>A (p.Ser2205Thr) c.6430T>A (p.Ser2144Thr) c.6151T>A (p.Ser2051Thr) c.5194T>A (p.Ser1732Thr) c.5185T>A (p.Ser1729Thr) | gnomAD v4 |
| 5 | g.37049158T>C | CA359508794 | NIPBL | c.6811T>C (p.Ser2271Pro) c.1-15420T>C (n.1-15420T>C) c.6067T>C (p.Ser2023Pro) c.6613T>C (p.Ser2205Pro) c.6430T>C (p.Ser2144Pro) c.6151T>C (p.Ser2051Pro) c.5194T>C (p.Ser1732Pro) c.5185T>C (p.Ser1729Pro) | |
| 5 | g.37049158T>G | CA359508795 | NIPBL | c.6811T>G (p.Ser2271Ala) c.1-15420T>G (n.1-15420T>G) c.6067T>G (p.Ser2023Ala) c.6613T>G (p.Ser2205Ala) c.6430T>G (p.Ser2144Ala) c.6151T>G (p.Ser2051Ala) c.5194T>G (p.Ser1732Ala) c.5185T>G (p.Ser1729Ala) | |
| 5 | g.37049159C>A | CA359508797 | NIPBL | c.6812C>A (p.Ser2271Tyr) c.1-15419C>A (n.1-15419C>A) c.6068C>A (p.Ser2023Tyr) c.6614C>A (p.Ser2205Tyr) c.6431C>A (p.Ser2144Tyr) c.6152C>A (p.Ser2051Tyr) c.5195C>A (p.Ser1732Tyr) c.5186C>A (p.Ser1729Tyr) | |
| 5 | g.37049159C>G | CA359508798 | NIPBL | c.6812C>G (p.Ser2271Cys) c.1-15419C>G (n.1-15419C>G) c.6068C>G (p.Ser2023Cys) c.6614C>G (p.Ser2205Cys) c.6431C>G (p.Ser2144Cys) c.6152C>G (p.Ser2051Cys) c.5195C>G (p.Ser1732Cys) c.5186C>G (p.Ser1729Cys) | gnomAD v4 |
| 5 | g.37049159C>T | CA359508799 | NIPBL | c.6812C>T (p.Ser2271Phe) c.1-15419C>T (n.1-15419C>T) c.6068C>T (p.Ser2023Phe) c.6614C>T (p.Ser2205Phe) c.6431C>T (p.Ser2144Phe) c.6152C>T (p.Ser2051Phe) c.5195C>T (p.Ser1732Phe) c.5186C>T (p.Ser1729Phe) | |
| 5 | g.37049160C>A | CA443907919 | NIPBL | c.6813C>A (p.Ser2271=) c.1-15418C>A (n.1-15418C>A) c.6069C>A (p.Ser2023=) c.6615C>A (p.Ser2205=) c.6432C>A (p.Ser2144=) c.6153C>A (p.Ser2051=) c.5196C>A (p.Ser1732=) c.5187C>A (p.Ser1729=) | |
| 5 | g.37049160C= | CA1539568382 | NIPBL | c.6813C= (p.Ser2271=) c.1-15418C= (n.1-15418C=) c.6069C= (p.Ser2023=) c.6615C= (p.Ser2205=) c.6432C= (p.Ser2144=) c.6153C= (p.Ser2051=) c.5196C= (p.Ser1732=) c.5187C= (p.Ser1729=) | |
| 5 | g.37049160C>G | CA443907923 | NIPBL | c.6813C>G (p.Ser2271=) c.1-15418C>G (n.1-15418C>G) c.6069C>G (p.Ser2023=) c.6615C>G (p.Ser2205=) c.6432C>G (p.Ser2144=) c.6153C>G (p.Ser2051=) c.5196C>G (p.Ser1732=) c.5187C>G (p.Ser1729=) | |
| 5 | g.37049160C>T | CA3237075 | NIPBL | c.6813C>T (p.Ser2271=) c.1-15418C>T (n.1-15418C>T) c.6069C>T (p.Ser2023=) c.6615C>T (p.Ser2205=) c.6432C>T (p.Ser2144=) c.6153C>T (p.Ser2051=) c.5196C>T (p.Ser1732=) c.5187C>T (p.Ser1729=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049161T>A | CA359508800 | NIPBL | c.6814T>A (p.Ser2272Thr) c.1-15417T>A (n.1-15417T>A) c.6070T>A (p.Ser2024Thr) c.6616T>A (p.Ser2206Thr) c.6433T>A (p.Ser2145Thr) c.6154T>A (p.Ser2052Thr) c.5197T>A (p.Ser1733Thr) c.5188T>A (p.Ser1730Thr) | |
| 5 | g.37049161T>C | CA359508801 | NIPBL | c.6814T>C (p.Ser2272Pro) c.1-15417T>C (n.1-15417T>C) c.6070T>C (p.Ser2024Pro) c.6616T>C (p.Ser2206Pro) c.6433T>C (p.Ser2145Pro) c.6154T>C (p.Ser2052Pro) c.5197T>C (p.Ser1733Pro) c.5188T>C (p.Ser1730Pro) | |
| 5 | g.37049161T>G | CA359508802 | NIPBL | c.6814T>G (p.Ser2272Ala) c.1-15417T>G (n.1-15417T>G) c.6070T>G (p.Ser2024Ala) c.6616T>G (p.Ser2206Ala) c.6433T>G (p.Ser2145Ala) c.6154T>G (p.Ser2052Ala) c.5197T>G (p.Ser1733Ala) c.5188T>G (p.Ser1730Ala) | |
| 5 | g.37049162C>A | CA359508803 | NIPBL | c.6815C>A (p.Ser2272Ter) c.1-15416C>A (n.1-15416C>A) c.6071C>A (p.Ser2024Ter) c.6617C>A (p.Ser2206Ter) c.6434C>A (p.Ser2145Ter) c.6155C>A (p.Ser2052Ter) c.5198C>A (p.Ser1733Ter) c.5189C>A (p.Ser1730Ter) | |
| 5 | g.37049162C= | CA1539568386 | NIPBL | c.6815C= (p.Ser2272=) c.1-15416C= (n.1-15416C=) c.6071C= (p.Ser2024=) c.6617C= (p.Ser2206=) c.6434C= (p.Ser2145=) c.6155C= (p.Ser2052=) c.5198C= (p.Ser1733=) c.5189C= (p.Ser1730=) | |
| 5 | g.37049162C>G | CA359508804 | NIPBL | c.6815C>G (p.Ser2272Ter) c.1-15416C>G (n.1-15416C>G) c.6071C>G (p.Ser2024Ter) c.6617C>G (p.Ser2206Ter) c.6434C>G (p.Ser2145Ter) c.6155C>G (p.Ser2052Ter) c.5198C>G (p.Ser1733Ter) c.5189C>G (p.Ser1730Ter) | |
| 5 | g.37049162C>T | CA359508805 | NIPBL | c.6815C>T (p.Ser2272Leu) c.1-15416C>T (n.1-15416C>T) c.6071C>T (p.Ser2024Leu) c.6617C>T (p.Ser2206Leu) c.6434C>T (p.Ser2145Leu) c.6155C>T (p.Ser2052Leu) c.5198C>T (p.Ser1733Leu) c.5189C>T (p.Ser1730Leu) | dbSNP COSMIC COSMIC |
| 5 | g.37049163A>C | CA443907934 | NIPBL | c.6816A>C (p.Ser2272=) c.1-15415A>C (n.1-15415A>C) c.6072A>C (p.Ser2024=) c.6618A>C (p.Ser2206=) c.6435A>C (p.Ser2145=) c.6156A>C (p.Ser2052=) c.5199A>C (p.Ser1733=) c.5190A>C (p.Ser1730=) | |
| 5 | g.37049163A>G | CA443907936 | NIPBL | c.6816A>G (p.Ser2272=) c.1-15415A>G (n.1-15415A>G) c.6072A>G (p.Ser2024=) c.6618A>G (p.Ser2206=) c.6435A>G (p.Ser2145=) c.6156A>G (p.Ser2052=) c.5199A>G (p.Ser1733=) c.5190A>G (p.Ser1730=) | |
| 5 | g.37049163A>T | CA443907938 | NIPBL | c.6816A>T (p.Ser2272=) c.1-15415A>T (n.1-15415A>T) c.6072A>T (p.Ser2024=) c.6618A>T (p.Ser2206=) c.6435A>T (p.Ser2145=) c.6156A>T (p.Ser2052=) c.5199A>T (p.Ser1733=) c.5190A>T (p.Ser1730=) | |
| 5 | g.37049164G>A | CA359508806 | NIPBL | c.6817G>A (p.Gly2273Arg) c.1-15414G>A (n.1-15414G>A) c.6073G>A (p.Gly2025Arg) c.6619G>A (p.Gly2207Arg) c.6436G>A (p.Gly2146Arg) c.6157G>A (p.Gly2053Arg) c.5200G>A (p.Gly1734Arg) c.5191G>A (p.Gly1731Arg) | |
| 5 | g.37049164G>C | CA359508807 | NIPBL | c.6817G>C (p.Gly2273Arg) c.1-15414G>C (n.1-15414G>C) c.6073G>C (p.Gly2025Arg) c.6619G>C (p.Gly2207Arg) c.6436G>C (p.Gly2146Arg) c.6157G>C (p.Gly2053Arg) c.5200G>C (p.Gly1734Arg) c.5191G>C (p.Gly1731Arg) | |
| 5 | g.37049164G>T | CA359508808 | NIPBL | c.6817G>T (p.Gly2273Trp) c.1-15414G>T (n.1-15414G>T) c.6073G>T (p.Gly2025Trp) c.6619G>T (p.Gly2207Trp) c.6436G>T (p.Gly2146Trp) c.6157G>T (p.Gly2053Trp) c.5200G>T (p.Gly1734Trp) c.5191G>T (p.Gly1731Trp) | |
| 5 | g.37049165G>A | CA359508811 | NIPBL | c.6818G>A (p.Gly2273Glu) c.1-15413G>A (n.1-15413G>A) c.6074G>A (p.Gly2025Glu) c.6620G>A (p.Gly2207Glu) c.6437G>A (p.Gly2146Glu) c.6158G>A (p.Gly2053Glu) c.5201G>A (p.Gly1734Glu) c.5192G>A (p.Gly1731Glu) | |
| 5 | g.37049165G>C | CA359508810 | NIPBL | c.6818G>C (p.Gly2273Ala) c.1-15413G>C (n.1-15413G>C) c.6074G>C (p.Gly2025Ala) c.6620G>C (p.Gly2207Ala) c.6437G>C (p.Gly2146Ala) c.6158G>C (p.Gly2053Ala) c.5201G>C (p.Gly1734Ala) c.5192G>C (p.Gly1731Ala) | |
| 5 | g.37049165G>T | CA359508809 | NIPBL | c.6818G>T (p.Gly2273Val) c.1-15413G>T (n.1-15413G>T) c.6074G>T (p.Gly2025Val) c.6620G>T (p.Gly2207Val) c.6437G>T (p.Gly2146Val) c.6158G>T (p.Gly2053Val) c.5201G>T (p.Gly1734Val) c.5192G>T (p.Gly1731Val) | |
| 5 | g.37049166G>A | CA3237076 | NIPBL | c.6819G>A (p.Gly2273=) c.1-15412G>A (n.1-15412G>A) c.6075G>A (p.Gly2025=) c.6621G>A (p.Gly2207=) c.6438G>A (p.Gly2146=) c.6159G>A (p.Gly2053=) c.5202G>A (p.Gly1734=) c.5193G>A (p.Gly1731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049166G>C | CA443907952 | NIPBL | c.6819G>C (p.Gly2273=) c.1-15412G>C (n.1-15412G>C) c.6075G>C (p.Gly2025=) c.6621G>C (p.Gly2207=) c.6438G>C (p.Gly2146=) c.6159G>C (p.Gly2053=) c.5202G>C (p.Gly1734=) c.5193G>C (p.Gly1731=) | gnomAD v4 |
| 5 | g.37049166G= | CA1539568388 | NIPBL | c.6819G= (p.Gly2273=) c.1-15412G= (n.1-15412G=) c.6075G= (p.Gly2025=) c.6621G= (p.Gly2207=) c.6438G= (p.Gly2146=) c.6159G= (p.Gly2053=) c.5202G= (p.Gly1734=) c.5193G= (p.Gly1731=) | |
| 5 | g.37049166G>T | CA443907951 | NIPBL | c.6819G>T (p.Gly2273=) c.1-15412G>T (n.1-15412G>T) c.6075G>T (p.Gly2025=) c.6621G>T (p.Gly2207=) c.6438G>T (p.Gly2146=) c.6159G>T (p.Gly2053=) c.5202G>T (p.Gly1734=) c.5193G>T (p.Gly1731=) | ClinVar |
| 5 | g.37049167A>C | CA359508812 | NIPBL | c.6820A>C (p.Met2274Leu) c.1-15411A>C (n.1-15411A>C) c.6076A>C (p.Met2026Leu) c.6622A>C (p.Met2208Leu) c.6439A>C (p.Met2147Leu) c.6160A>C (p.Met2054Leu) c.5203A>C (p.Met1735Leu) c.5194A>C (p.Met1732Leu) | |
| 5 | g.37049167A>G | CA359508813 | NIPBL | c.6820A>G (p.Met2274Val) c.1-15411A>G (n.1-15411A>G) c.6076A>G (p.Met2026Val) c.6622A>G (p.Met2208Val) c.6439A>G (p.Met2147Val) c.6160A>G (p.Met2054Val) c.5203A>G (p.Met1735Val) c.5194A>G (p.Met1732Val) | |
| 5 | g.37049167A>T | CA359508814 | NIPBL | c.6820A>T (p.Met2274Leu) c.1-15411A>T (n.1-15411A>T) c.6076A>T (p.Met2026Leu) c.6622A>T (p.Met2208Leu) c.6439A>T (p.Met2147Leu) c.6160A>T (p.Met2054Leu) c.5203A>T (p.Met1735Leu) c.5194A>T (p.Met1732Leu) | gnomAD v4 |
| 5 | g.37049168T>A | CA359508815 | NIPBL | c.6821T>A (p.Met2274Lys) c.1-15410T>A (n.1-15410T>A) c.6077T>A (p.Met2026Lys) c.6623T>A (p.Met2208Lys) c.6440T>A (p.Met2147Lys) c.6161T>A (p.Met2054Lys) c.5204T>A (p.Met1735Lys) c.5195T>A (p.Met1732Lys) | |
| 5 | g.37049168T>C | CA359508816 | NIPBL | c.6821T>C (p.Met2274Thr) c.1-15410T>C (n.1-15410T>C) c.6077T>C (p.Met2026Thr) c.6623T>C (p.Met2208Thr) c.6440T>C (p.Met2147Thr) c.6161T>C (p.Met2054Thr) c.5204T>C (p.Met1735Thr) c.5195T>C (p.Met1732Thr) | |
| 5 | g.37049168T>G | CA359508817 | NIPBL | c.6821T>G (p.Met2274Arg) c.1-15410T>G (n.1-15410T>G) c.6077T>G (p.Met2026Arg) c.6623T>G (p.Met2208Arg) c.6440T>G (p.Met2147Arg) c.6161T>G (p.Met2054Arg) c.5204T>G (p.Met1735Arg) c.5195T>G (p.Met1732Arg) | |
| 5 | g.37049169G>A | CA359508818 | NIPBL | c.6822G>A (p.Met2274Ile) c.1-15409G>A (n.1-15409G>A) c.6078G>A (p.Met2026Ile) c.6624G>A (p.Met2208Ile) c.6441G>A (p.Met2147Ile) c.6162G>A (p.Met2054Ile) c.5205G>A (p.Met1735Ile) c.5196G>A (p.Met1732Ile) | |
| 5 | g.37049169G>C | CA359508819 | NIPBL | c.6822G>C (p.Met2274Ile) c.1-15409G>C (n.1-15409G>C) c.6078G>C (p.Met2026Ile) c.6624G>C (p.Met2208Ile) c.6441G>C (p.Met2147Ile) c.6162G>C (p.Met2054Ile) c.5205G>C (p.Met1735Ile) c.5196G>C (p.Met1732Ile) | |
| 5 | g.37049169G>T | CA359508820 | NIPBL | c.6822G>T (p.Met2274Ile) c.1-15409G>T (n.1-15409G>T) c.6078G>T (p.Met2026Ile) c.6624G>T (p.Met2208Ile) c.6441G>T (p.Met2147Ile) c.6162G>T (p.Met2054Ile) c.5205G>T (p.Met1735Ile) c.5196G>T (p.Met1732Ile) | |
| 5 | g.37049170A>C | CA359508821 | NIPBL | c.6823A>C (p.Ser2275Arg) c.1-15408A>C (n.1-15408A>C) c.6079A>C (p.Ser2027Arg) c.6625A>C (p.Ser2209Arg) c.6442A>C (p.Ser2148Arg) c.6163A>C (p.Ser2055Arg) c.5206A>C (p.Ser1736Arg) c.5197A>C (p.Ser1733Arg) | |
| 5 | g.37049170A>G | CA359508822 | NIPBL | c.6823A>G (p.Ser2275Gly) c.1-15408A>G (n.1-15408A>G) c.6079A>G (p.Ser2027Gly) c.6625A>G (p.Ser2209Gly) c.6442A>G (p.Ser2148Gly) c.6163A>G (p.Ser2055Gly) c.5206A>G (p.Ser1736Gly) c.5197A>G (p.Ser1733Gly) | |
| 5 | g.37049170A>T | CA359508823 | NIPBL | c.6823A>T (p.Ser2275Cys) c.1-15408A>T (n.1-15408A>T) c.6079A>T (p.Ser2027Cys) c.6625A>T (p.Ser2209Cys) c.6442A>T (p.Ser2148Cys) c.6163A>T (p.Ser2055Cys) c.5206A>T (p.Ser1736Cys) c.5197A>T (p.Ser1733Cys) | |
| 5 | g.37049171G>A | CA359508825 | NIPBL | c.6824G>A (p.Ser2275Asn) c.1-15407G>A (n.1-15407G>A) c.6080G>A (p.Ser2027Asn) c.6626G>A (p.Ser2209Asn) c.6443G>A (p.Ser2148Asn) c.6164G>A (p.Ser2055Asn) c.5207G>A (p.Ser1736Asn) c.5198G>A (p.Ser1733Asn) | |
| 5 | g.37049171G>C | CA359508826 | NIPBL | c.6824G>C (p.Ser2275Thr) c.1-15407G>C (n.1-15407G>C) c.6080G>C (p.Ser2027Thr) c.6626G>C (p.Ser2209Thr) c.6443G>C (p.Ser2148Thr) c.6164G>C (p.Ser2055Thr) c.5207G>C (p.Ser1736Thr) c.5198G>C (p.Ser1733Thr) | |
| 5 | g.37049171G>T | CA359508824 | NIPBL | c.6824G>T (p.Ser2275Ile) c.1-15407G>T (n.1-15407G>T) c.6080G>T (p.Ser2027Ile) c.6626G>T (p.Ser2209Ile) c.6443G>T (p.Ser2148Ile) c.6164G>T (p.Ser2055Ile) c.5207G>T (p.Ser1736Ile) c.5198G>T (p.Ser1733Ile) | |
| 5 | g.37049172T>A | CA359508827 | NIPBL | c.6825T>A (p.Ser2275Arg) c.1-15406T>A (n.1-15406T>A) c.6081T>A (p.Ser2027Arg) c.6627T>A (p.Ser2209Arg) c.6444T>A (p.Ser2148Arg) c.6165T>A (p.Ser2055Arg) c.5208T>A (p.Ser1736Arg) c.5199T>A (p.Ser1733Arg) | |
| 5 | g.37049172T>C | CA443907977 | NIPBL | c.6825T>C (p.Ser2275=) c.1-15406T>C (n.1-15406T>C) c.6081T>C (p.Ser2027=) c.6627T>C (p.Ser2209=) c.6444T>C (p.Ser2148=) c.6165T>C (p.Ser2055=) c.5208T>C (p.Ser1736=) c.5199T>C (p.Ser1733=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049172T>G | CA359508828 | NIPBL | c.6825T>G (p.Ser2275Arg) c.1-15406T>G (n.1-15406T>G) c.6081T>G (p.Ser2027Arg) c.6627T>G (p.Ser2209Arg) c.6444T>G (p.Ser2148Arg) c.6165T>G (p.Ser2055Arg) c.5208T>G (p.Ser1736Arg) c.5199T>G (p.Ser1733Arg) | |
| 5 | g.37049172T= | CA1539568391 | NIPBL | c.6825T= (p.Ser2275=) c.1-15406T= (n.1-15406T=) c.6081T= (p.Ser2027=) c.6627T= (p.Ser2209=) c.6444T= (p.Ser2148=) c.6165T= (p.Ser2055=) c.5208T= (p.Ser1736=) c.5199T= (p.Ser1733=) | |
| 5 | g.37049173A>C | CA359508829 | NIPBL | c.6826A>C (p.Ser2276Arg) c.1-15405A>C (n.1-15405A>C) c.6082A>C (p.Ser2028Arg) c.6628A>C (p.Ser2210Arg) c.6445A>C (p.Ser2149Arg) c.6166A>C (p.Ser2056Arg) c.5209A>C (p.Ser1737Arg) c.5200A>C (p.Ser1734Arg) | ClinVar |
| 5 | g.37049173A>G | CA359508830 | NIPBL | c.6826A>G (p.Ser2276Gly) c.1-15405A>G (n.1-15405A>G) c.6082A>G (p.Ser2028Gly) c.6628A>G (p.Ser2210Gly) c.6445A>G (p.Ser2149Gly) c.6166A>G (p.Ser2056Gly) c.5209A>G (p.Ser1737Gly) c.5200A>G (p.Ser1734Gly) | |
| 5 | g.37049173A>T | CA359508831 | NIPBL | c.6826A>T (p.Ser2276Cys) c.1-15405A>T (n.1-15405A>T) c.6082A>T (p.Ser2028Cys) c.6628A>T (p.Ser2210Cys) c.6445A>T (p.Ser2149Cys) c.6166A>T (p.Ser2056Cys) c.5209A>T (p.Ser1737Cys) c.5200A>T (p.Ser1734Cys) | |
| 5 | g.37049174G>A | CA359508832 | NIPBL | c.6827G>A (p.Ser2276Asn) c.1-15404G>A (n.1-15404G>A) c.6083G>A (p.Ser2028Asn) c.6629G>A (p.Ser2210Asn) c.6446G>A (p.Ser2149Asn) c.6167G>A (p.Ser2056Asn) c.5210G>A (p.Ser1737Asn) c.5201G>A (p.Ser1734Asn) | |
| 5 | g.37049174G>C | CA359508833 | NIPBL | c.6827G>C (p.Ser2276Thr) c.1-15404G>C (n.1-15404G>C) c.6083G>C (p.Ser2028Thr) c.6629G>C (p.Ser2210Thr) c.6446G>C (p.Ser2149Thr) c.6167G>C (p.Ser2056Thr) c.5210G>C (p.Ser1737Thr) c.5201G>C (p.Ser1734Thr) | |
| 5 | g.37049174G>T | CA359508834 | NIPBL | c.6827G>T (p.Ser2276Ile) c.1-15404G>T (n.1-15404G>T) c.6083G>T (p.Ser2028Ile) c.6629G>T (p.Ser2210Ile) c.6446G>T (p.Ser2149Ile) c.6167G>T (p.Ser2056Ile) c.5210G>T (p.Ser1737Ile) c.5201G>T (p.Ser1734Ile) | |
| 5 | g.37049175T>A | CA359508835 | NIPBL | c.6828T>A (p.Ser2276Arg) c.1-15403T>A (n.1-15403T>A) c.6084T>A (p.Ser2028Arg) c.6630T>A (p.Ser2210Arg) c.6447T>A (p.Ser2149Arg) c.6168T>A (p.Ser2056Arg) c.5211T>A (p.Ser1737Arg) c.5202T>A (p.Ser1734Arg) | |
| 5 | g.37049175T>C | CA443907988 | NIPBL | c.6828T>C (p.Ser2276=) c.1-15403T>C (n.1-15403T>C) c.6084T>C (p.Ser2028=) c.6630T>C (p.Ser2210=) c.6447T>C (p.Ser2149=) c.6168T>C (p.Ser2056=) c.5211T>C (p.Ser1737=) c.5202T>C (p.Ser1734=) | |
| 5 | g.37049175T>G | CA359508836 | NIPBL | c.6828T>G (p.Ser2276Arg) c.1-15403T>G (n.1-15403T>G) c.6084T>G (p.Ser2028Arg) c.6630T>G (p.Ser2210Arg) c.6447T>G (p.Ser2149Arg) c.6168T>G (p.Ser2056Arg) c.5211T>G (p.Ser1737Arg) c.5202T>G (p.Ser1734Arg) | |
| 5 | g.37049176T>A | CA359508837 | NIPBL | c.6829T>A (p.Ser2277Thr) c.1-15402T>A (n.1-15402T>A) c.6085T>A (p.Ser2029Thr) c.6631T>A (p.Ser2211Thr) c.6448T>A (p.Ser2150Thr) c.6169T>A (p.Ser2057Thr) c.5212T>A (p.Ser1738Thr) c.5203T>A (p.Ser1735Thr) | |
| 5 | g.37049176T>C | CA359508838 | NIPBL | c.6829T>C (p.Ser2277Pro) c.1-15402T>C (n.1-15402T>C) c.6085T>C (p.Ser2029Pro) c.6631T>C (p.Ser2211Pro) c.6448T>C (p.Ser2150Pro) c.6169T>C (p.Ser2057Pro) c.5212T>C (p.Ser1738Pro) c.5203T>C (p.Ser1735Pro) | |
| 5 | g.37049176T>G | CA359508839 | NIPBL | c.6829T>G (p.Ser2277Ala) c.1-15402T>G (n.1-15402T>G) c.6085T>G (p.Ser2029Ala) c.6631T>G (p.Ser2211Ala) c.6448T>G (p.Ser2150Ala) c.6169T>G (p.Ser2057Ala) c.5212T>G (p.Ser1738Ala) c.5203T>G (p.Ser1735Ala) | |
| 5 | g.37049177C>A | CA359508842 | NIPBL | c.6830C>A (p.Ser2277Tyr) c.1-15401C>A (n.1-15401C>A) c.6086C>A (p.Ser2029Tyr) c.6632C>A (p.Ser2211Tyr) c.6449C>A (p.Ser2150Tyr) c.6170C>A (p.Ser2057Tyr) c.5213C>A (p.Ser1738Tyr) c.5204C>A (p.Ser1735Tyr) | |
| 5 | g.37049177C>G | CA359508841 | NIPBL | c.6830C>G (p.Ser2277Cys) c.1-15401C>G (n.1-15401C>G) c.6086C>G (p.Ser2029Cys) c.6632C>G (p.Ser2211Cys) c.6449C>G (p.Ser2150Cys) c.6170C>G (p.Ser2057Cys) c.5213C>G (p.Ser1738Cys) c.5204C>G (p.Ser1735Cys) | |
| 5 | g.37049177C>T | CA359508840 | NIPBL | c.6830C>T (p.Ser2277Phe) c.1-15401C>T (n.1-15401C>T) c.6086C>T (p.Ser2029Phe) c.6632C>T (p.Ser2211Phe) c.6449C>T (p.Ser2150Phe) c.6170C>T (p.Ser2057Phe) c.5213C>T (p.Ser1738Phe) c.5204C>T (p.Ser1735Phe) | |
| 5 | g.37049178C>A | CA443908002 | NIPBL | c.6831C>A (p.Ser2277=) c.1-15400C>A (n.1-15400C>A) c.6087C>A (p.Ser2029=) c.6633C>A (p.Ser2211=) c.6450C>A (p.Ser2150=) c.6171C>A (p.Ser2057=) c.5214C>A (p.Ser1738=) c.5205C>A (p.Ser1735=) | |
| 5 | g.37049178C= | CA1539568394 | NIPBL | c.6831C= (p.Ser2277=) c.1-15400C= (n.1-15400C=) c.6087C= (p.Ser2029=) c.6633C= (p.Ser2211=) c.6450C= (p.Ser2150=) c.6171C= (p.Ser2057=) c.5214C= (p.Ser1738=) c.5205C= (p.Ser1735=) | |
| 5 | g.37049178C>G | CA443908004 | NIPBL | c.6831C>G (p.Ser2277=) c.1-15400C>G (n.1-15400C>G) c.6087C>G (p.Ser2029=) c.6633C>G (p.Ser2211=) c.6450C>G (p.Ser2150=) c.6171C>G (p.Ser2057=) c.5214C>G (p.Ser1738=) c.5205C>G (p.Ser1735=) | |
| 5 | g.37049178C>T | CA443908006 | NIPBL | c.6831C>T (p.Ser2277=) c.1-15400C>T (n.1-15400C>T) c.6087C>T (p.Ser2029=) c.6633C>T (p.Ser2211=) c.6450C>T (p.Ser2150=) c.6171C>T (p.Ser2057=) c.5214C>T (p.Ser1738=) c.5205C>T (p.Ser1735=) | dbSNP gnomAD v2 COSMIC COSMIC |
| 5 | g.37049179A>C | CA359508843 | NIPBL | c.6832A>C (p.Ile2278Leu) c.1-15399A>C (n.1-15399A>C) c.6088A>C (p.Ile2030Leu) c.6634A>C (p.Ile2212Leu) c.6451A>C (p.Ile2151Leu) c.6172A>C (p.Ile2058Leu) c.5215A>C (p.Ile1739Leu) c.5206A>C (p.Ile1736Leu) | |
| 5 | g.37049179A>G | CA359508844 | NIPBL | c.6832A>G (p.Ile2278Val) c.1-15399A>G (n.1-15399A>G) c.6088A>G (p.Ile2030Val) c.6634A>G (p.Ile2212Val) c.6451A>G (p.Ile2151Val) c.6172A>G (p.Ile2058Val) c.5215A>G (p.Ile1739Val) c.5206A>G (p.Ile1736Val) | |
| 5 | g.37049179A>T | CA359508845 | NIPBL | c.6832A>T (p.Ile2278Phe) c.1-15399A>T (n.1-15399A>T) c.6088A>T (p.Ile2030Phe) c.6634A>T (p.Ile2212Phe) c.6451A>T (p.Ile2151Phe) c.6172A>T (p.Ile2058Phe) c.5215A>T (p.Ile1739Phe) c.5206A>T (p.Ile1736Phe) | |
| 5 | g.37049180T>A | CA359508846 | NIPBL | c.6833T>A (p.Ile2278Asn) c.1-15398T>A (n.1-15398T>A) c.6089T>A (p.Ile2030Asn) c.6635T>A (p.Ile2212Asn) c.6452T>A (p.Ile2151Asn) c.6173T>A (p.Ile2058Asn) c.5216T>A (p.Ile1739Asn) c.5207T>A (p.Ile1736Asn) | |
| 5 | g.37049180T>C | CA359508847 | NIPBL | c.6833T>C (p.Ile2278Thr) c.1-15398T>C (n.1-15398T>C) c.6089T>C (p.Ile2030Thr) c.6635T>C (p.Ile2212Thr) c.6452T>C (p.Ile2151Thr) c.6173T>C (p.Ile2058Thr) c.5216T>C (p.Ile1739Thr) c.5207T>C (p.Ile1736Thr) | |
| 5 | g.37049180T>G | CA359508848 | NIPBL | c.6833T>G (p.Ile2278Ser) c.1-15398T>G (n.1-15398T>G) c.6089T>G (p.Ile2030Ser) c.6635T>G (p.Ile2212Ser) c.6452T>G (p.Ile2151Ser) c.6173T>G (p.Ile2058Ser) c.5216T>G (p.Ile1739Ser) c.5207T>G (p.Ile1736Ser) | |
| 5 | g.37049181C>A | CA443908017 | NIPBL | c.6834C>A (p.Ile2278=) c.1-15397C>A (n.1-15397C>A) c.6090C>A (p.Ile2030=) c.6636C>A (p.Ile2212=) c.6453C>A (p.Ile2151=) c.6174C>A (p.Ile2058=) c.5217C>A (p.Ile1739=) c.5208C>A (p.Ile1736=) | |
| 5 | g.37049181C= | CA1539568396 | NIPBL | c.6834C= (p.Ile2278=) c.1-15397C= (n.1-15397C=) c.6090C= (p.Ile2030=) c.6636C= (p.Ile2212=) c.6453C= (p.Ile2151=) c.6174C= (p.Ile2058=) c.5217C= (p.Ile1739=) c.5208C= (p.Ile1736=) | |
| 5 | g.37049181C>G | CA359508849 | NIPBL | c.6834C>G (p.Ile2278Met) c.1-15397C>G (n.1-15397C>G) c.6090C>G (p.Ile2030Met) c.6636C>G (p.Ile2212Met) c.6453C>G (p.Ile2151Met) c.6174C>G (p.Ile2058Met) c.5217C>G (p.Ile1739Met) c.5208C>G (p.Ile1736Met) | |
| 5 | g.37049181C>T | CA117049278 | NIPBL | c.6834C>T (p.Ile2278=) c.1-15397C>T (n.1-15397C>T) c.6090C>T (p.Ile2030=) c.6636C>T (p.Ile2212=) c.6453C>T (p.Ile2151=) c.6174C>T (p.Ile2058=) c.5217C>T (p.Ile1739=) c.5208C>T (p.Ile1736=) | dbSNP gnomAD v4 |
| 5 | g.37049182A= | CA1539568398 | NIPBL | c.6835A= (p.Met2279=) c.1-15396A= (n.1-15396A=) c.6091A= (p.Met2031=) c.6637A= (p.Met2213=) c.6454A= (p.Met2152=) c.6175A= (p.Met2059=) c.5218A= (p.Met1740=) c.5209A= (p.Met1737=) | |
| 5 | g.37049182A>C | CA359508850 | NIPBL | c.6835A>C (p.Met2279Leu) c.1-15396A>C (n.1-15396A>C) c.6091A>C (p.Met2031Leu) c.6637A>C (p.Met2213Leu) c.6454A>C (p.Met2152Leu) c.6175A>C (p.Met2059Leu) c.5218A>C (p.Met1740Leu) c.5209A>C (p.Met1737Leu) | |
| 5 | g.37049182A>G | CA3237077 | NIPBL | c.6835A>G (p.Met2279Val) c.1-15396A>G (n.1-15396A>G) c.6091A>G (p.Met2031Val) c.6637A>G (p.Met2213Val) c.6454A>G (p.Met2152Val) c.6175A>G (p.Met2059Val) c.5218A>G (p.Met1740Val) c.5209A>G (p.Met1737Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37049182A>T | CA359508851 | NIPBL | c.6835A>T (p.Met2279Leu) c.1-15396A>T (n.1-15396A>T) c.6091A>T (p.Met2031Leu) c.6637A>T (p.Met2213Leu) c.6454A>T (p.Met2152Leu) c.6175A>T (p.Met2059Leu) c.5218A>T (p.Met1740Leu) c.5209A>T (p.Met1737Leu) | |
| 5 | g.37049183T>A | CA359508852 | NIPBL | c.6836T>A (p.Met2279Lys) c.1-15395T>A (n.1-15395T>A) c.6092T>A (p.Met2031Lys) c.6638T>A (p.Met2213Lys) c.6455T>A (p.Met2152Lys) c.6176T>A (p.Met2059Lys) c.5219T>A (p.Met1740Lys) c.5210T>A (p.Met1737Lys) | |
| 5 | g.37049183T>C | CA359508853 | NIPBL | c.6836T>C (p.Met2279Thr) c.1-15395T>C (n.1-15395T>C) c.6092T>C (p.Met2031Thr) c.6638T>C (p.Met2213Thr) c.6455T>C (p.Met2152Thr) c.6176T>C (p.Met2059Thr) c.5219T>C (p.Met1740Thr) c.5210T>C (p.Met1737Thr) | |
| 5 | g.37049183T>G | CA359508854 | NIPBL | c.6836T>G (p.Met2279Arg) c.1-15395T>G (n.1-15395T>G) c.6092T>G (p.Met2031Arg) c.6638T>G (p.Met2213Arg) c.6455T>G (p.Met2152Arg) c.6176T>G (p.Met2059Arg) c.5219T>G (p.Met1740Arg) c.5210T>G (p.Met1737Arg) | |
| 5 | g.37049184G>A | CA359508857 | NIPBL | c.6837G>A (p.Met2279Ile) c.1-15394G>A (n.1-15394G>A) c.6093G>A (p.Met2031Ile) c.6639G>A (p.Met2213Ile) c.6456G>A (p.Met2152Ile) c.6177G>A (p.Met2059Ile) c.5220G>A (p.Met1740Ile) c.5211G>A (p.Met1737Ile) | |
| 5 | g.37049184G>C | CA359508856 | NIPBL | c.6837G>C (p.Met2279Ile) c.1-15394G>C (n.1-15394G>C) c.6093G>C (p.Met2031Ile) c.6639G>C (p.Met2213Ile) c.6456G>C (p.Met2152Ile) c.6177G>C (p.Met2059Ile) c.5220G>C (p.Met1740Ile) c.5211G>C (p.Met1737Ile) | |
| 5 | g.37049184G>T | CA359508855 | NIPBL | c.6837G>T (p.Met2279Ile) c.1-15394G>T (n.1-15394G>T) c.6093G>T (p.Met2031Ile) c.6639G>T (p.Met2213Ile) c.6456G>T (p.Met2152Ile) c.6177G>T (p.Met2059Ile) c.5220G>T (p.Met1740Ile) c.5211G>T (p.Met1737Ile) | gnomAD v4 |
| 5 | g.37049185C>A | CA359508860 | NIPBL | c.6838C>A (p.Gln2280Lys) c.1-15393C>A (n.1-15393C>A) c.6094C>A (p.Gln2032Lys) c.6640C>A (p.Gln2214Lys) c.6457C>A (p.Gln2153Lys) c.6178C>A (p.Gln2060Lys) c.5221C>A (p.Gln1741Lys) c.5212C>A (p.Gln1738Lys) | |
| 5 | g.37049185C>G | CA359508858 | NIPBL | c.6838C>G (p.Gln2280Glu) c.1-15393C>G (n.1-15393C>G) c.6094C>G (p.Gln2032Glu) c.6640C>G (p.Gln2214Glu) c.6457C>G (p.Gln2153Glu) c.6178C>G (p.Gln2060Glu) c.5221C>G (p.Gln1741Glu) c.5212C>G (p.Gln1738Glu) | |
| 5 | g.37049185C>T | CA359508859 | NIPBL | c.6838C>T (p.Gln2280Ter) c.1-15393C>T (n.1-15393C>T) c.6094C>T (p.Gln2032Ter) c.6640C>T (p.Gln2214Ter) c.6457C>T (p.Gln2153Ter) c.6178C>T (p.Gln2060Ter) c.5221C>T (p.Gln1741Ter) c.5212C>T (p.Gln1738Ter) | |
| 5 | g.37049186A>C | CA359508861 | NIPBL | c.6839A>C (p.Gln2280Pro) c.1-15392A>C (n.1-15392A>C) c.6095A>C (p.Gln2032Pro) c.6641A>C (p.Gln2214Pro) c.6458A>C (p.Gln2153Pro) c.6179A>C (p.Gln2060Pro) c.5222A>C (p.Gln1741Pro) c.5213A>C (p.Gln1738Pro) | |
| 5 | g.37049186A>G | CA359508862 | NIPBL | c.6839A>G (p.Gln2280Arg) c.1-15392A>G (n.1-15392A>G) c.6095A>G (p.Gln2032Arg) c.6641A>G (p.Gln2214Arg) c.6458A>G (p.Gln2153Arg) c.6179A>G (p.Gln2060Arg) c.5222A>G (p.Gln1741Arg) c.5213A>G (p.Gln1738Arg) | |
| 5 | g.37049186A>T | CA359508863 | NIPBL | c.6839A>T (p.Gln2280Leu) c.1-15392A>T (n.1-15392A>T) c.6095A>T (p.Gln2032Leu) c.6641A>T (p.Gln2214Leu) c.6458A>T (p.Gln2153Leu) c.6179A>T (p.Gln2060Leu) c.5222A>T (p.Gln1741Leu) c.5213A>T (p.Gln1738Leu) | |
| 5 | g.37049187G>A | CA443908042 | NIPBL | c.6840G>A (p.Gln2280=) c.1-15391G>A (n.1-15391G>A) c.6096G>A (p.Gln2032=) c.6642G>A (p.Gln2214=) c.6459G>A (p.Gln2153=) c.6180G>A (p.Gln2060=) c.5223G>A (p.Gln1741=) c.5214G>A (p.Gln1738=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.37049187G>C | CA359508864 | NIPBL | c.6840G>C (p.Gln2280His) c.1-15391G>C (n.1-15391G>C) c.6096G>C (p.Gln2032His) c.6642G>C (p.Gln2214His) c.6459G>C (p.Gln2153His) c.6180G>C (p.Gln2060His) c.5223G>C (p.Gln1741His) c.5214G>C (p.Gln1738His) | |
| 5 | g.37049187G= | CA1539568402 | NIPBL | c.6840G= (p.Gln2280=) c.1-15391G= (n.1-15391G=) c.6096G= (p.Gln2032=) c.6642G= (p.Gln2214=) c.6459G= (p.Gln2153=) c.6180G= (p.Gln2060=) c.5223G= (p.Gln1741=) c.5214G= (p.Gln1738=) | |
| 5 | g.37049187G>T | CA359508865 | NIPBL | c.6840G>T (p.Gln2280His) c.1-15391G>T (n.1-15391G>T) c.6096G>T (p.Gln2032His) c.6642G>T (p.Gln2214His) c.6459G>T (p.Gln2153His) c.6180G>T (p.Gln2060His) c.5223G>T (p.Gln1741His) c.5214G>T (p.Gln1738His) | COSMIC COSMIC |
| 5 | g.37049188C>A | CA359508866 | NIPBL | c.6841C>A (p.Leu2281Ile) c.1-15390C>A (n.1-15390C>A) c.6097C>A (p.Leu2033Ile) c.6643C>A (p.Leu2215Ile) c.6460C>A (p.Leu2154Ile) c.6181C>A (p.Leu2061Ile) c.5224C>A (p.Leu1742Ile) c.5215C>A (p.Leu1739Ile) | |
| 5 | g.37049188C>G | CA359508867 | NIPBL | c.6841C>G (p.Leu2281Val) c.1-15390C>G (n.1-15390C>G) c.6097C>G (p.Leu2033Val) c.6643C>G (p.Leu2215Val) c.6460C>G (p.Leu2154Val) c.6181C>G (p.Leu2061Val) c.5224C>G (p.Leu1742Val) c.5215C>G (p.Leu1739Val) | |
| 5 | g.37049188C>T | CA359508868 | NIPBL | c.6841C>T (p.Leu2281Phe) c.1-15390C>T (n.1-15390C>T) c.6097C>T (p.Leu2033Phe) c.6643C>T (p.Leu2215Phe) c.6460C>T (p.Leu2154Phe) c.6181C>T (p.Leu2061Phe) c.5224C>T (p.Leu1742Phe) c.5215C>T (p.Leu1739Phe) | |
| 5 | g.37049189T>A | CA359508869 | NIPBL | c.6842T>A (p.Leu2281His) c.1-15389T>A (n.1-15389T>A) c.6098T>A (p.Leu2033His) c.6644T>A (p.Leu2215His) c.6461T>A (p.Leu2154His) c.6182T>A (p.Leu2061His) c.5225T>A (p.Leu1742His) c.5216T>A (p.Leu1739His) | |
| 5 | g.37049189T>C | CA359508870 | NIPBL | c.6842T>C (p.Leu2281Pro) c.1-15389T>C (n.1-15389T>C) c.6098T>C (p.Leu2033Pro) c.6644T>C (p.Leu2215Pro) c.6461T>C (p.Leu2154Pro) c.6182T>C (p.Leu2061Pro) c.5225T>C (p.Leu1742Pro) c.5216T>C (p.Leu1739Pro) | |
| 5 | g.37049189T>G | CA359508871 | NIPBL | c.6842T>G (p.Leu2281Arg) c.1-15389T>G (n.1-15389T>G) c.6098T>G (p.Leu2033Arg) c.6644T>G (p.Leu2215Arg) c.6461T>G (p.Leu2154Arg) c.6182T>G (p.Leu2061Arg) c.5225T>G (p.Leu1742Arg) c.5216T>G (p.Leu1739Arg) | |
| 5 | g.37049190T>A | CA443908056 | NIPBL | c.6843T>A (p.Leu2281=) c.1-15388T>A (n.1-15388T>A) c.6099T>A (p.Leu2033=) c.6645T>A (p.Leu2215=) c.6462T>A (p.Leu2154=) c.6183T>A (p.Leu2061=) c.5226T>A (p.Leu1742=) c.5217T>A (p.Leu1739=) | |
| 5 | g.37049190T>C | CA443908058 | NIPBL | c.6843T>C (p.Leu2281=) c.1-15388T>C (n.1-15388T>C) c.6099T>C (p.Leu2033=) c.6645T>C (p.Leu2215=) c.6462T>C (p.Leu2154=) c.6183T>C (p.Leu2061=) c.5226T>C (p.Leu1742=) c.5217T>C (p.Leu1739=) | |
| 5 | g.37049190T>G | CA443908059 | NIPBL | c.6843T>G (p.Leu2281=) c.1-15388T>G (n.1-15388T>G) c.6099T>G (p.Leu2033=) c.6645T>G (p.Leu2215=) c.6462T>G (p.Leu2154=) c.6183T>G (p.Leu2061=) c.5226T>G (p.Leu1742=) c.5217T>G (p.Leu1739=) | |
| 5 | g.37049191T>A | CA359508874 | NIPBL | c.6844T>A (p.Tyr2282Asn) c.1-15387T>A (n.1-15387T>A) c.6100T>A (p.Tyr2034Asn) c.6646T>A (p.Tyr2216Asn) c.6463T>A (p.Tyr2155Asn) c.6184T>A (p.Tyr2062Asn) c.5227T>A (p.Tyr1743Asn) c.5218T>A (p.Tyr1740Asn) | |
| 5 | g.37049191T>C | CA359508872 | NIPBL | c.6844T>C (p.Tyr2282His) c.1-15387T>C (n.1-15387T>C) c.6100T>C (p.Tyr2034His) c.6646T>C (p.Tyr2216His) c.6463T>C (p.Tyr2155His) c.6184T>C (p.Tyr2062His) c.5227T>C (p.Tyr1743His) c.5218T>C (p.Tyr1740His) | |
| 5 | g.37049191T>G | CA359508873 | NIPBL | c.6844T>G (p.Tyr2282Asp) c.1-15387T>G (n.1-15387T>G) c.6100T>G (p.Tyr2034Asp) c.6646T>G (p.Tyr2216Asp) c.6463T>G (p.Tyr2155Asp) c.6184T>G (p.Tyr2062Asp) c.5227T>G (p.Tyr1743Asp) c.5218T>G (p.Tyr1740Asp) | |
| 5 | g.37049192A= | CA1539568407 | NIPBL | c.6845A= (p.Tyr2282=) c.1-15386A= (n.1-15386A=) c.6101A= (p.Tyr2034=) c.6647A= (p.Tyr2216=) c.6464A= (p.Tyr2155=) c.6185A= (p.Tyr2062=) c.5228A= (p.Tyr1743=) c.5219A= (p.Tyr1740=) | |
| 5 | g.37049192A>C | CA359508875 | NIPBL | c.6845A>C (p.Tyr2282Ser) c.1-15386A>C (n.1-15386A>C) c.6101A>C (p.Tyr2034Ser) c.6647A>C (p.Tyr2216Ser) c.6464A>C (p.Tyr2155Ser) c.6185A>C (p.Tyr2062Ser) c.5228A>C (p.Tyr1743Ser) c.5219A>C (p.Tyr1740Ser) | |
| 5 | g.37049192A>G | CA16605364 | NIPBL | c.6845A>G (p.Tyr2282Cys) c.1-15386A>G (n.1-15386A>G) c.6101A>G (p.Tyr2034Cys) c.6647A>G (p.Tyr2216Cys) c.6464A>G (p.Tyr2155Cys) c.6185A>G (p.Tyr2062Cys) c.5228A>G (p.Tyr1743Cys) c.5219A>G (p.Tyr1740Cys) | ClinVar dbSNP |
| 5 | g.37049192A>T | CA359508876 | NIPBL | c.6845A>T (p.Tyr2282Phe) c.1-15386A>T (n.1-15386A>T) c.6101A>T (p.Tyr2034Phe) c.6647A>T (p.Tyr2216Phe) c.6464A>T (p.Tyr2155Phe) c.6185A>T (p.Tyr2062Phe) c.5228A>T (p.Tyr1743Phe) c.5219A>T (p.Tyr1740Phe) | |
| 5 | g.37049193T>A | CA359508877 | NIPBL | c.6846T>A (p.Tyr2282Ter) c.1-15385T>A (n.1-15385T>A) c.6102T>A (p.Tyr2034Ter) c.6648T>A (p.Tyr2216Ter) c.6465T>A (p.Tyr2155Ter) c.6186T>A (p.Tyr2062Ter) c.5229T>A (p.Tyr1743Ter) c.5220T>A (p.Tyr1740Ter) | |
| 5 | g.37049193T>C | CA3237078 | NIPBL | c.6846T>C (p.Tyr2282=) c.1-15385T>C (n.1-15385T>C) c.6102T>C (p.Tyr2034=) c.6648T>C (p.Tyr2216=) c.6465T>C (p.Tyr2155=) c.6186T>C (p.Tyr2062=) c.5229T>C (p.Tyr1743=) c.5220T>C (p.Tyr1740=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37049193T>G | CA359508878 | NIPBL | c.6846T>G (p.Tyr2282Ter) c.1-15385T>G (n.1-15385T>G) c.6102T>G (p.Tyr2034Ter) c.6648T>G (p.Tyr2216Ter) c.6465T>G (p.Tyr2155Ter) c.6186T>G (p.Tyr2062Ter) c.5229T>G (p.Tyr1743Ter) c.5220T>G (p.Tyr1740Ter) | |
| 5 | g.37049193T= | CA1539568411 | NIPBL | c.6846T= (p.Tyr2282=) c.1-15385T= (n.1-15385T=) c.6102T= (p.Tyr2034=) c.6648T= (p.Tyr2216=) c.6465T= (p.Tyr2155=) c.6186T= (p.Tyr2062=) c.5229T= (p.Tyr1743=) c.5220T= (p.Tyr1740=) | |
| 5 | g.37049194C>A | CA359508879 | NIPBL | c.6847C>A (p.Leu2283Ile) c.1-15384C>A (n.1-15384C>A) c.6103C>A (p.Leu2035Ile) c.6649C>A (p.Leu2217Ile) c.6466C>A (p.Leu2156Ile) c.6187C>A (p.Leu2063Ile) c.5230C>A (p.Leu1744Ile) c.5221C>A (p.Leu1741Ile) | |
| 5 | g.37049194C>G | CA359508880 | NIPBL | c.6847C>G (p.Leu2283Val) c.1-15384C>G (n.1-15384C>G) c.6103C>G (p.Leu2035Val) c.6649C>G (p.Leu2217Val) c.6466C>G (p.Leu2156Val) c.6187C>G (p.Leu2063Val) c.5230C>G (p.Leu1744Val) c.5221C>G (p.Leu1741Val) | gnomAD v4 |
| 5 | g.37049194C>T | CA359508881 | NIPBL | c.6847C>T (p.Leu2283Phe) c.1-15384C>T (n.1-15384C>T) c.6103C>T (p.Leu2035Phe) c.6649C>T (p.Leu2217Phe) c.6466C>T (p.Leu2156Phe) c.6187C>T (p.Leu2063Phe) c.5230C>T (p.Leu1744Phe) c.5221C>T (p.Leu1741Phe) | |
| 5 | g.37049195T>A | CA359508882 | NIPBL | c.6848T>A (p.Leu2283His) c.1-15383T>A (n.1-15383T>A) c.6104T>A (p.Leu2035His) c.6650T>A (p.Leu2217His) c.6467T>A (p.Leu2156His) c.6188T>A (p.Leu2063His) c.5231T>A (p.Leu1744His) c.5222T>A (p.Leu1741His) | |
| 5 | g.37049195T>C | CA359508883 | NIPBL | c.6848T>C (p.Leu2283Pro) c.1-15383T>C (n.1-15383T>C) c.6104T>C (p.Leu2035Pro) c.6650T>C (p.Leu2217Pro) c.6467T>C (p.Leu2156Pro) c.6188T>C (p.Leu2063Pro) c.5231T>C (p.Leu1744Pro) c.5222T>C (p.Leu1741Pro) | |
| 5 | g.37049195T>G | CA359508884 | NIPBL | c.6848T>G (p.Leu2283Arg) c.1-15383T>G (n.1-15383T>G) c.6104T>G (p.Leu2035Arg) c.6650T>G (p.Leu2217Arg) c.6467T>G (p.Leu2156Arg) c.6188T>G (p.Leu2063Arg) c.5231T>G (p.Leu1744Arg) c.5222T>G (p.Leu1741Arg) | |
| 5 | g.37049196C>A | CA443908087 | NIPBL | c.6849C>A (p.Leu2283=) c.1-15382C>A (n.1-15382C>A) c.6105C>A (p.Leu2035=) c.6651C>A (p.Leu2217=) c.6468C>A (p.Leu2156=) c.6189C>A (p.Leu2063=) c.5232C>A (p.Leu1744=) c.5223C>A (p.Leu1741=) | |
| 5 | g.37049196C>G | CA443908085 | NIPBL | c.6849C>G (p.Leu2283=) c.1-15382C>G (n.1-15382C>G) c.6105C>G (p.Leu2035=) c.6651C>G (p.Leu2217=) c.6468C>G (p.Leu2156=) c.6189C>G (p.Leu2063=) c.5232C>G (p.Leu1744=) c.5223C>G (p.Leu1741=) | gnomAD v4 |
| 5 | g.37049196C>T | CA443908083 | NIPBL | c.6849C>T (p.Leu2283=) c.1-15382C>T (n.1-15382C>T) c.6105C>T (p.Leu2035=) c.6651C>T (p.Leu2217=) c.6468C>T (p.Leu2156=) c.6189C>T (p.Leu2063=) c.5232C>T (p.Leu1744=) c.5223C>T (p.Leu1741=) | |
| 5 | g.37049197A>C | CA359508886 | NIPBL | c.6850A>C (p.Lys2284Gln) c.1-15381A>C (n.1-15381A>C) c.6106A>C (p.Lys2036Gln) c.6652A>C (p.Lys2218Gln) c.6469A>C (p.Lys2157Gln) c.6190A>C (p.Lys2064Gln) c.5233A>C (p.Lys1745Gln) c.5224A>C (p.Lys1742Gln) | gnomAD v4 |
| 5 | g.37049197A>G | CA359508887 | NIPBL | c.6850A>G (p.Lys2284Glu) c.1-15381A>G (n.1-15381A>G) c.6106A>G (p.Lys2036Glu) c.6652A>G (p.Lys2218Glu) c.6469A>G (p.Lys2157Glu) c.6190A>G (p.Lys2064Glu) c.5233A>G (p.Lys1745Glu) c.5224A>G (p.Lys1742Glu) | |
| 5 | g.37049197A>T | CA359508885 | NIPBL | c.6850A>T (p.Lys2284Ter) c.1-15381A>T (n.1-15381A>T) c.6106A>T (p.Lys2036Ter) c.6652A>T (p.Lys2218Ter) c.6469A>T (p.Lys2157Ter) c.6190A>T (p.Lys2064Ter) c.5233A>T (p.Lys1745Ter) c.5224A>T (p.Lys1742Ter) | |
| 5 | g.37049199del | CA2695204425 | NIPBL | c.6852del (p.Lys2284AsnfsTer19) c.1-15379del (n.1-15379del) c.6108del (p.Lys2036AsnfsTer19) c.6654del (p.Lys2218AsnfsTer19) c.6471del (p.Lys2157AsnfsTer19) c.6192del (p.Lys2064AsnfsTer19) c.5235del (p.Lys1745AsnfsTer19) c.5226del (p.Lys1742AsnfsTer19) | |
| 5 | g.37049198A>C | CA359508888 | NIPBL | c.6851A>C (p.Lys2284Thr) c.1-15380A>C (n.1-15380A>C) c.6107A>C (p.Lys2036Thr) c.6653A>C (p.Lys2218Thr) c.6470A>C (p.Lys2157Thr) c.6191A>C (p.Lys2064Thr) c.5234A>C (p.Lys1745Thr) c.5225A>C (p.Lys1742Thr) | |
| 5 | g.37049198A>G | CA359508890 | NIPBL | c.6851A>G (p.Lys2284Arg) c.1-15380A>G (n.1-15380A>G) c.6107A>G (p.Lys2036Arg) c.6653A>G (p.Lys2218Arg) c.6470A>G (p.Lys2157Arg) c.6191A>G (p.Lys2064Arg) c.5234A>G (p.Lys1745Arg) c.5225A>G (p.Lys1742Arg) | |
| 5 | g.37049198A>T | CA359508889 | NIPBL | c.6851A>T (p.Lys2284Ile) c.1-15380A>T (n.1-15380A>T) c.6107A>T (p.Lys2036Ile) c.6653A>T (p.Lys2218Ile) c.6470A>T (p.Lys2157Ile) c.6191A>T (p.Lys2064Ile) c.5234A>T (p.Lys1745Ile) c.5225A>T (p.Lys1742Ile) | |
| 5 | g.37049199A>C | CA359508891 | NIPBL | c.6852A>C (p.Lys2284Asn) c.1-15379A>C (n.1-15379A>C) c.6108A>C (p.Lys2036Asn) c.6654A>C (p.Lys2218Asn) c.6471A>C (p.Lys2157Asn) c.6192A>C (p.Lys2064Asn) c.5235A>C (p.Lys1745Asn) c.5226A>C (p.Lys1742Asn) | |
| 5 | g.37049199A>G | CA443908098 | NIPBL | c.6852A>G (p.Lys2284=) c.1-15379A>G (n.1-15379A>G) c.6108A>G (p.Lys2036=) c.6654A>G (p.Lys2218=) c.6471A>G (p.Lys2157=) c.6192A>G (p.Lys2064=) c.5235A>G (p.Lys1745=) c.5226A>G (p.Lys1742=) | |
| 5 | g.37049199A>T | CA359508892 | NIPBL | c.6852A>T (p.Lys2284Asn) c.1-15379A>T (n.1-15379A>T) c.6108A>T (p.Lys2036Asn) c.6654A>T (p.Lys2218Asn) c.6471A>T (p.Lys2157Asn) c.6192A>T (p.Lys2064Asn) c.5235A>T (p.Lys1745Asn) c.5226A>T (p.Lys1742Asn) | |
| 5 | g.37049200C>A | CA359508893 | NIPBL | c.6853C>A (p.Gln2285Lys) c.1-15378C>A (n.1-15378C>A) c.6109C>A (p.Gln2037Lys) c.6655C>A (p.Gln2219Lys) c.6472C>A (p.Gln2158Lys) c.6193C>A (p.Gln2065Lys) c.5236C>A (p.Gln1746Lys) c.5227C>A (p.Gln1743Lys) | |
| 5 | g.37049200C>G | CA359508894 | NIPBL | c.6853C>G (p.Gln2285Glu) c.1-15378C>G (n.1-15378C>G) c.6109C>G (p.Gln2037Glu) c.6655C>G (p.Gln2219Glu) c.6472C>G (p.Gln2158Glu) c.6193C>G (p.Gln2065Glu) c.5236C>G (p.Gln1746Glu) c.5227C>G (p.Gln1743Glu) | |
| 5 | g.37049200C>T | CA359508895 | NIPBL | c.6853C>T (p.Gln2285Ter) c.1-15378C>T (n.1-15378C>T) c.6109C>T (p.Gln2037Ter) c.6655C>T (p.Gln2219Ter) c.6472C>T (p.Gln2158Ter) c.6193C>T (p.Gln2065Ter) c.5236C>T (p.Gln1746Ter) c.5227C>T (p.Gln1743Ter) | |
| 5 | g.37049201A>C | CA359508896 | NIPBL | c.6854A>C (p.Gln2285Pro) c.1-15377A>C (n.1-15377A>C) c.6110A>C (p.Gln2037Pro) c.6656A>C (p.Gln2219Pro) c.6473A>C (p.Gln2158Pro) c.6194A>C (p.Gln2065Pro) c.5237A>C (p.Gln1746Pro) c.5228A>C (p.Gln1743Pro) | |
| 5 | g.37049201A>G | CA359508897 | NIPBL | c.6854A>G (p.Gln2285Arg) c.1-15377A>G (n.1-15377A>G) c.6110A>G (p.Gln2037Arg) c.6656A>G (p.Gln2219Arg) c.6473A>G (p.Gln2158Arg) c.6194A>G (p.Gln2065Arg) c.5237A>G (p.Gln1746Arg) c.5228A>G (p.Gln1743Arg) | ClinVar |
| 5 | g.37049201A>T | CA359508898 | NIPBL | c.6854A>T (p.Gln2285Leu) c.1-15377A>T (n.1-15377A>T) c.6110A>T (p.Gln2037Leu) c.6656A>T (p.Gln2219Leu) c.6473A>T (p.Gln2158Leu) c.6194A>T (p.Gln2065Leu) c.5237A>T (p.Gln1746Leu) c.5228A>T (p.Gln1743Leu) | |
| 5 | g.37049201_37049202del | CA2695204426 | NIPBL | c.6854_6855del (p.Gln2285ArgfsTer3) c.1-15377_1-15376del (n.1-15377_1-15376del) c.6110_6111del (p.Gln2037ArgfsTer3) c.6656_6657del (p.Gln2219ArgfsTer3) c.6473_6474del (p.Gln2158ArgfsTer3) c.6194_6195del (p.Gln2065ArgfsTer3) c.5237_5238del (p.Gln1746ArgfsTer3) c.5228_5229del (p.Gln1743ArgfsTer3) | |
| 5 | g.37049202G>A | CA443908110 | NIPBL | c.6855G>A (p.Gln2285=) c.1-15376G>A (n.1-15376G>A) c.6111G>A (p.Gln2037=) c.6657G>A (p.Gln2219=) c.6474G>A (p.Gln2158=) c.6195G>A (p.Gln2065=) c.5238G>A (p.Gln1746=) c.5229G>A (p.Gln1743=) | gnomAD v4 |
| 5 | g.37049202G>C | CA359508899 | NIPBL | c.6855G>C (p.Gln2285His) c.1-15376G>C (n.1-15376G>C) c.6111G>C (p.Gln2037His) c.6657G>C (p.Gln2219His) c.6474G>C (p.Gln2158His) c.6195G>C (p.Gln2065His) c.5238G>C (p.Gln1746His) c.5229G>C (p.Gln1743His) | |
| 5 | g.37049202G>T | CA359508900 | NIPBL | c.6855G>T (p.Gln2285His) c.1-15376G>T (n.1-15376G>T) c.6111G>T (p.Gln2037His) c.6657G>T (p.Gln2219His) c.6474G>T (p.Gln2158His) c.6195G>T (p.Gln2065His) c.5238G>T (p.Gln1746His) c.5229G>T (p.Gln1743His) | |
| 5 | g.37049203G>A | CA359508901 | NIPBL | c.6856G>A (p.Val2286Met) c.1-15375G>A (n.1-15375G>A) c.6112G>A (p.Val2038Met) c.6658G>A (p.Val2220Met) c.6475G>A (p.Val2159Met) c.6196G>A (p.Val2066Met) c.5239G>A (p.Val1747Met) c.5230G>A (p.Val1744Met) | |
| 5 | g.37049203G>C | CA359508902 | NIPBL | c.6856G>C (p.Val2286Leu) c.1-15375G>C (n.1-15375G>C) c.6112G>C (p.Val2038Leu) c.6658G>C (p.Val2220Leu) c.6475G>C (p.Val2159Leu) c.6196G>C (p.Val2066Leu) c.5239G>C (p.Val1747Leu) c.5230G>C (p.Val1744Leu) | |
| 5 | g.37049203G>T | CA359508903 | NIPBL | c.6856G>T (p.Val2286Leu) c.1-15375G>T (n.1-15375G>T) c.6112G>T (p.Val2038Leu) c.6658G>T (p.Val2220Leu) c.6475G>T (p.Val2159Leu) c.6196G>T (p.Val2066Leu) c.5239G>T (p.Val1747Leu) c.5230G>T (p.Val1744Leu) | |
| 5 | g.37049204T>A | CA359508904 | NIPBL | c.6857T>A (p.Val2286Glu) c.1-15374T>A (n.1-15374T>A) c.6113T>A (p.Val2038Glu) c.6659T>A (p.Val2220Glu) c.6476T>A (p.Val2159Glu) c.6197T>A (p.Val2066Glu) c.5240T>A (p.Val1747Glu) c.5231T>A (p.Val1744Glu) | |
| 5 | g.37049204T>C | CA359508906 | NIPBL | c.6857T>C (p.Val2286Ala) c.1-15374T>C (n.1-15374T>C) c.6113T>C (p.Val2038Ala) c.6659T>C (p.Val2220Ala) c.6476T>C (p.Val2159Ala) c.6197T>C (p.Val2066Ala) c.5240T>C (p.Val1747Ala) c.5231T>C (p.Val1744Ala) | |
| 5 | g.37049204T>G | CA359508905 | NIPBL | c.6857T>G (p.Val2286Gly) c.1-15374T>G (n.1-15374T>G) c.6113T>G (p.Val2038Gly) c.6659T>G (p.Val2220Gly) c.6476T>G (p.Val2159Gly) c.6197T>G (p.Val2066Gly) c.5240T>G (p.Val1747Gly) c.5231T>G (p.Val1744Gly) | |
| 5 | g.37049205G>A | CA443908125 | NIPBL | c.6858G>A (p.Val2286=) c.1-15373G>A (n.1-15373G>A) c.6114G>A (p.Val2038=) c.6660G>A (p.Val2220=) c.6477G>A (p.Val2159=) c.6198G>A (p.Val2066=) c.5241G>A (p.Val1747=) c.5232G>A (p.Val1744=) | |
| 5 | g.37049205G>C | CA443908123 | NIPBL | c.6858G>C (p.Val2286=) c.1-15373G>C (n.1-15373G>C) c.6114G>C (p.Val2038=) c.6660G>C (p.Val2220=) c.6477G>C (p.Val2159=) c.6198G>C (p.Val2066=) c.5241G>C (p.Val1747=) c.5232G>C (p.Val1744=) | gnomAD v4 |
| 5 | g.37049205G>T | CA443908121 | NIPBL | c.6858G>T (p.Val2286=) c.1-15373G>T (n.1-15373G>T) c.6114G>T (p.Val2038=) c.6660G>T (p.Val2220=) c.6477G>T (p.Val2159=) c.6198G>T (p.Val2066=) c.5241G>T (p.Val1747=) c.5232G>T (p.Val1744=) | |
| 5 | g.37049206C>A | CA359508907 | NIPBL | c.6859C>A (p.Leu2287Ile) c.1-15372C>A (n.1-15372C>A) c.6115C>A (p.Leu2039Ile) c.6661C>A (p.Leu2221Ile) c.6478C>A (p.Leu2160Ile) c.6199C>A (p.Leu2067Ile) c.5242C>A (p.Leu1748Ile) c.5233C>A (p.Leu1745Ile) | |
| 5 | g.37049206C>G | CA359508908 | NIPBL | c.6859C>G (p.Leu2287Val) c.1-15372C>G (n.1-15372C>G) c.6115C>G (p.Leu2039Val) c.6661C>G (p.Leu2221Val) c.6478C>G (p.Leu2160Val) c.6199C>G (p.Leu2067Val) c.5242C>G (p.Leu1748Val) c.5233C>G (p.Leu1745Val) | |
| 5 | g.37049206C>T | CA359508909 | NIPBL | c.6859C>T (p.Leu2287Phe) c.1-15372C>T (n.1-15372C>T) c.6115C>T (p.Leu2039Phe) c.6661C>T (p.Leu2221Phe) c.6478C>T (p.Leu2160Phe) c.6199C>T (p.Leu2067Phe) c.5242C>T (p.Leu1748Phe) c.5233C>T (p.Leu1745Phe) | gnomAD v4 |
| 5 | g.37049207T>A | CA359508910 | NIPBL | c.6860T>A (p.Leu2287His) c.1-15371T>A (n.1-15371T>A) c.6116T>A (p.Leu2039His) c.6662T>A (p.Leu2221His) c.6479T>A (p.Leu2160His) c.6200T>A (p.Leu2067His) c.5243T>A (p.Leu1748His) c.5234T>A (p.Leu1745His) | |
| 5 | g.37049207T>C | CA359508911 | NIPBL | c.6860T>C (p.Leu2287Pro) c.1-15371T>C (n.1-15371T>C) c.6116T>C (p.Leu2039Pro) c.6662T>C (p.Leu2221Pro) c.6479T>C (p.Leu2160Pro) c.6200T>C (p.Leu2067Pro) c.5243T>C (p.Leu1748Pro) c.5234T>C (p.Leu1745Pro) | ClinVar |
| 5 | g.37049207T>G | CA359508912 | NIPBL | c.6860T>G (p.Leu2287Arg) c.1-15371T>G (n.1-15371T>G) c.6116T>G (p.Leu2039Arg) c.6662T>G (p.Leu2221Arg) c.6479T>G (p.Leu2160Arg) c.6200T>G (p.Leu2067Arg) c.5243T>G (p.Leu1748Arg) c.5234T>G (p.Leu1745Arg) | |
| 5 | g.37049208T>A | CA443908137 | NIPBL | c.6861T>A (p.Leu2287=) c.1-15370T>A (n.1-15370T>A) c.6117T>A (p.Leu2039=) c.6663T>A (p.Leu2221=) c.6480T>A (p.Leu2160=) c.6201T>A (p.Leu2067=) c.5244T>A (p.Leu1748=) c.5235T>A (p.Leu1745=) | |
| 5 | g.37049208T>C | CA443908142 | NIPBL | c.6861T>C (p.Leu2287=) c.1-15370T>C (n.1-15370T>C) c.6117T>C (p.Leu2039=) c.6663T>C (p.Leu2221=) c.6480T>C (p.Leu2160=) c.6201T>C (p.Leu2067=) c.5244T>C (p.Leu1748=) c.5235T>C (p.Leu1745=) | |
| 5 | g.37049208T>G | CA443908140 | NIPBL | c.6861T>G (p.Leu2287=) c.1-15370T>G (n.1-15370T>G) c.6117T>G (p.Leu2039=) c.6663T>G (p.Leu2221=) c.6480T>G (p.Leu2160=) c.6201T>G (p.Leu2067=) c.5244T>G (p.Leu1748=) c.5235T>G (p.Leu1745=) | gnomAD v4 |
| 5 | g.37049209G>A | CA359508913 | NIPBL | c.6862G>A (p.Glu2288Lys) c.1-15369G>A (n.1-15369G>A) c.6118G>A (p.Glu2040Lys) c.6664G>A (p.Glu2222Lys) c.6481G>A (p.Glu2161Lys) c.6202G>A (p.Glu2068Lys) c.5245G>A (p.Glu1749Lys) c.5236G>A (p.Glu1746Lys) | |
| 5 | g.37049209G>C | CA359508914 | NIPBL | c.6862G>C (p.Glu2288Gln) c.1-15369G>C (n.1-15369G>C) c.6118G>C (p.Glu2040Gln) c.6664G>C (p.Glu2222Gln) c.6481G>C (p.Glu2161Gln) c.6202G>C (p.Glu2068Gln) c.5245G>C (p.Glu1749Gln) c.5236G>C (p.Glu1746Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37049209G= | CA1539568414 | NIPBL | c.6862G= (p.Glu2288=) c.1-15369G= (n.1-15369G=) c.6118G= (p.Glu2040=) c.6664G= (p.Glu2222=) c.6481G= (p.Glu2161=) c.6202G= (p.Glu2068=) c.5245G= (p.Glu1749=) c.5236G= (p.Glu1746=) | |
| 5 | g.37049209G>T | CA359508915 | NIPBL | c.6862G>T (p.Glu2288Ter) c.1-15369G>T (n.1-15369G>T) c.6118G>T (p.Glu2040Ter) c.6664G>T (p.Glu2222Ter) c.6481G>T (p.Glu2161Ter) c.6202G>T (p.Glu2068Ter) c.5245G>T (p.Glu1749Ter) c.5236G>T (p.Glu1746Ter) | |
| 5 | g.37049210A>C | CA359508918 | NIPBL | c.6863A>C (p.Glu2288Ala) c.1-15368A>C (n.1-15368A>C) c.6119A>C (p.Glu2040Ala) c.6665A>C (p.Glu2222Ala) c.6482A>C (p.Glu2161Ala) c.6203A>C (p.Glu2068Ala) c.5246A>C (p.Glu1749Ala) c.5237A>C (p.Glu1746Ala) | gnomAD v4 |
| 5 | g.37049210A>G | CA359508917 | NIPBL | c.6863A>G (p.Glu2288Gly) c.1-15368A>G (n.1-15368A>G) c.6119A>G (p.Glu2040Gly) c.6665A>G (p.Glu2222Gly) c.6482A>G (p.Glu2161Gly) c.6203A>G (p.Glu2068Gly) c.5246A>G (p.Glu1749Gly) c.5237A>G (p.Glu1746Gly) | COSMIC COSMIC |
| 5 | g.37049210A>T | CA359508916 | NIPBL | c.6863A>T (p.Glu2288Val) c.1-15368A>T (n.1-15368A>T) c.6119A>T (p.Glu2040Val) c.6665A>T (p.Glu2222Val) c.6482A>T (p.Glu2161Val) c.6203A>T (p.Glu2068Val) c.5246A>T (p.Glu1749Val) c.5237A>T (p.Glu1746Val) | |
| 5 | g.37049211G>A | CA443908151 | NIPBL | c.6864G>A (p.Glu2288=) c.1-15367G>A (n.1-15367G>A) c.6120G>A (p.Glu2040=) c.6666G>A (p.Glu2222=) c.6483G>A (p.Glu2161=) c.6204G>A (p.Glu2068=) c.5247G>A (p.Glu1749=) c.5238G>A (p.Glu1746=) | |
| 5 | g.37049211G>C | CA359508919 | NIPBL | c.6864G>C (p.Glu2288Asp) c.1-15367G>C (n.1-15367G>C) c.6120G>C (p.Glu2040Asp) c.6666G>C (p.Glu2222Asp) c.6483G>C (p.Glu2161Asp) c.6204G>C (p.Glu2068Asp) c.5247G>C (p.Glu1749Asp) c.5238G>C (p.Glu1746Asp) | |
| 5 | g.37049211G>T | CA359508920 | NIPBL | c.6864G>T (p.Glu2288Asp) c.1-15367G>T (n.1-15367G>T) c.6120G>T (p.Glu2040Asp) c.6666G>T (p.Glu2222Asp) c.6483G>T (p.Glu2161Asp) c.6204G>T (p.Glu2068Asp) c.5247G>T (p.Glu1749Asp) c.5238G>T (p.Glu1746Asp) | ClinVar gnomAD v4 |
| 5 | g.37049212G>A | CA359508921 | NIPBL | c.6865G>A (p.Ala2289Thr) c.1-15366G>A (n.1-15366G>A) c.6121G>A (p.Ala2041Thr) c.6667G>A (p.Ala2223Thr) c.6484G>A (p.Ala2162Thr) c.6205G>A (p.Ala2069Thr) c.5248G>A (p.Ala1750Thr) c.5239G>A (p.Ala1747Thr) | |
| 5 | g.37049212G>C | CA359508922 | NIPBL | c.6865G>C (p.Ala2289Pro) c.1-15366G>C (n.1-15366G>C) c.6121G>C (p.Ala2041Pro) c.6667G>C (p.Ala2223Pro) c.6484G>C (p.Ala2162Pro) c.6205G>C (p.Ala2069Pro) c.5248G>C (p.Ala1750Pro) c.5239G>C (p.Ala1747Pro) | |
| 5 | g.37049212G>T | CA359508923 | NIPBL | c.6865G>T (p.Ala2289Ser) c.1-15366G>T (n.1-15366G>T) c.6121G>T (p.Ala2041Ser) c.6667G>T (p.Ala2223Ser) c.6484G>T (p.Ala2162Ser) c.6205G>T (p.Ala2069Ser) c.5248G>T (p.Ala1750Ser) c.5239G>T (p.Ala1747Ser) |