| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 5 | g.37038716_37038717insT | CA658657440 | NIPBL | c.6086_6087insT (p.Tyr2030IlefsTer5) c.1-25862_1-25861insT (n.1-25862_1-25861insT) c.5342_5343insT (p.Tyr1782IlefsTer5) c.5888_5889insT (p.Tyr1964IlefsTer5) c.5705_5706insT (p.Tyr1903IlefsTer5) c.5426_5427insT (p.Tyr1810IlefsTer5) c.4469_4470insT (p.Tyr1491IlefsTer5) c.4460_4461insT (p.Tyr1488IlefsTer5) | ClinVar dbSNP |
| 5 | g.37038717A= | CA1539611571 | NIPBL | c.6087A= (p.Pro2029=) c.1-25861A= (n.1-25861A=) c.5343A= (p.Pro1781=) c.5889A= (p.Pro1963=) c.5706A= (p.Pro1902=) c.5427A= (p.Pro1809=) c.4470A= (p.Pro1490=) c.4461A= (p.Pro1487=) | |
| 5 | g.37038717A>C | CA443905845 | NIPBL | c.6087A>C (p.Pro2029=) c.1-25861A>C (n.1-25861A>C) c.5343A>C (p.Pro1781=) c.5889A>C (p.Pro1963=) c.5706A>C (p.Pro1902=) c.5427A>C (p.Pro1809=) c.4470A>C (p.Pro1490=) c.4461A>C (p.Pro1487=) | |
| 5 | g.37038717A>G | CA443905846 | NIPBL | c.6087A>G (p.Pro2029=) c.1-25861A>G (n.1-25861A>G) c.5343A>G (p.Pro1781=) c.5889A>G (p.Pro1963=) c.5706A>G (p.Pro1902=) c.5427A>G (p.Pro1809=) c.4470A>G (p.Pro1490=) c.4461A>G (p.Pro1487=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038717A>T | CA443905847 | NIPBL | c.6087A>T (p.Pro2029=) c.1-25861A>T (n.1-25861A>T) c.5343A>T (p.Pro1781=) c.5889A>T (p.Pro1963=) c.5706A>T (p.Pro1902=) c.5427A>T (p.Pro1809=) c.4470A>T (p.Pro1490=) c.4461A>T (p.Pro1487=) | |
| 5 | g.37038718T>A | CA359498739 | NIPBL | c.6088T>A (p.Tyr2030Asn) c.1-25860T>A (n.1-25860T>A) c.5344T>A (p.Tyr1782Asn) c.5890T>A (p.Tyr1964Asn) c.5707T>A (p.Tyr1903Asn) c.5428T>A (p.Tyr1810Asn) c.4471T>A (p.Tyr1491Asn) c.4462T>A (p.Tyr1488Asn) | |
| 5 | g.37038718T>C | CA359498738 | NIPBL | c.6088T>C (p.Tyr2030His) c.1-25860T>C (n.1-25860T>C) c.5344T>C (p.Tyr1782His) c.5890T>C (p.Tyr1964His) c.5707T>C (p.Tyr1903His) c.5428T>C (p.Tyr1810His) c.4471T>C (p.Tyr1491His) c.4462T>C (p.Tyr1488His) | |
| 5 | g.37038718T>G | CA359498735 | NIPBL | c.6088T>G (p.Tyr2030Asp) c.1-25860T>G (n.1-25860T>G) c.5344T>G (p.Tyr1782Asp) c.5890T>G (p.Tyr1964Asp) c.5707T>G (p.Tyr1903Asp) c.5428T>G (p.Tyr1810Asp) c.4471T>G (p.Tyr1491Asp) c.4462T>G (p.Tyr1488Asp) | |
| 5 | g.37038719A>C | CA359498740 | NIPBL | c.6089A>C (p.Tyr2030Ser) c.1-25859A>C (n.1-25859A>C) c.5345A>C (p.Tyr1782Ser) c.5891A>C (p.Tyr1964Ser) c.5708A>C (p.Tyr1903Ser) c.5429A>C (p.Tyr1810Ser) c.4472A>C (p.Tyr1491Ser) c.4463A>C (p.Tyr1488Ser) | |
| 5 | g.37038719A>G | CA359498742 | NIPBL | c.6089A>G (p.Tyr2030Cys) c.1-25859A>G (n.1-25859A>G) c.5345A>G (p.Tyr1782Cys) c.5891A>G (p.Tyr1964Cys) c.5708A>G (p.Tyr1903Cys) c.5429A>G (p.Tyr1810Cys) c.4472A>G (p.Tyr1491Cys) c.4463A>G (p.Tyr1488Cys) | ClinVar |
| 5 | g.37038719A>T | CA359498741 | NIPBL | c.6089A>T (p.Tyr2030Phe) c.1-25859A>T (n.1-25859A>T) c.5345A>T (p.Tyr1782Phe) c.5891A>T (p.Tyr1964Phe) c.5708A>T (p.Tyr1903Phe) c.5429A>T (p.Tyr1810Phe) c.4472A>T (p.Tyr1491Phe) c.4463A>T (p.Tyr1488Phe) | |
| 5 | g.37038720C>A | CA359498744 | NIPBL | c.6090C>A (p.Tyr2030Ter) c.1-25858C>A (n.1-25858C>A) c.5346C>A (p.Tyr1782Ter) c.5892C>A (p.Tyr1964Ter) c.5709C>A (p.Tyr1903Ter) c.5430C>A (p.Tyr1810Ter) c.4473C>A (p.Tyr1491Ter) c.4464C>A (p.Tyr1488Ter) | |
| 5 | g.37038720C= | CA1539611575 | NIPBL | c.6090C= (p.Tyr2030=) c.1-25858C= (n.1-25858C=) c.5346C= (p.Tyr1782=) c.5892C= (p.Tyr1964=) c.5709C= (p.Tyr1903=) c.5430C= (p.Tyr1810=) c.4473C= (p.Tyr1491=) c.4464C= (p.Tyr1488=) | |
| 5 | g.37038720C>G | CA359498747 | NIPBL | c.6090C>G (p.Tyr2030Ter) c.1-25858C>G (n.1-25858C>G) c.5346C>G (p.Tyr1782Ter) c.5892C>G (p.Tyr1964Ter) c.5709C>G (p.Tyr1903Ter) c.5430C>G (p.Tyr1810Ter) c.4473C>G (p.Tyr1491Ter) c.4464C>G (p.Tyr1488Ter) | |
| 5 | g.37038720C>T | CA443905848 | NIPBL | c.6090C>T (p.Tyr2030=) c.1-25858C>T (n.1-25858C>T) c.5346C>T (p.Tyr1782=) c.5892C>T (p.Tyr1964=) c.5709C>T (p.Tyr1903=) c.5430C>T (p.Tyr1810=) c.4473C>T (p.Tyr1491=) c.4464C>T (p.Tyr1488=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038721C>A | CA359498750 | NIPBL | c.6091C>A (p.Leu2031Ile) c.1-25857C>A (n.1-25857C>A) c.5347C>A (p.Leu1783Ile) c.5893C>A (p.Leu1965Ile) c.5710C>A (p.Leu1904Ile) c.5431C>A (p.Leu1811Ile) c.4474C>A (p.Leu1492Ile) c.4465C>A (p.Leu1489Ile) | |
| 5 | g.37038721C>G | CA359498769 | NIPBL | c.6091C>G (p.Leu2031Val) c.1-25857C>G (n.1-25857C>G) c.5347C>G (p.Leu1783Val) c.5893C>G (p.Leu1965Val) c.5710C>G (p.Leu1904Val) c.5431C>G (p.Leu1811Val) c.4474C>G (p.Leu1492Val) c.4465C>G (p.Leu1489Val) | |
| 5 | g.37038721C>T | CA359498764 | NIPBL | c.6091C>T (p.Leu2031Phe) c.1-25857C>T (n.1-25857C>T) c.5347C>T (p.Leu1783Phe) c.5893C>T (p.Leu1965Phe) c.5710C>T (p.Leu1904Phe) c.5431C>T (p.Leu1811Phe) c.4474C>T (p.Leu1492Phe) c.4465C>T (p.Leu1489Phe) | |
| 5 | g.37038722T>A | CA359498779 | NIPBL | c.6092T>A (p.Leu2031His) c.1-25856T>A (n.1-25856T>A) c.5348T>A (p.Leu1783His) c.5894T>A (p.Leu1965His) c.5711T>A (p.Leu1904His) c.5432T>A (p.Leu1811His) c.4475T>A (p.Leu1492His) c.4466T>A (p.Leu1489His) | COSMIC COSMIC |
| 5 | g.37038722T>C | CA359498785 | NIPBL | c.6092T>C (p.Leu2031Pro) c.1-25856T>C (n.1-25856T>C) c.5348T>C (p.Leu1783Pro) c.5894T>C (p.Leu1965Pro) c.5711T>C (p.Leu1904Pro) c.5432T>C (p.Leu1811Pro) c.4475T>C (p.Leu1492Pro) c.4466T>C (p.Leu1489Pro) | |
| 5 | g.37038722T>G | CA359498782 | NIPBL | c.6092T>G (p.Leu2031Arg) c.1-25856T>G (n.1-25856T>G) c.5348T>G (p.Leu1783Arg) c.5894T>G (p.Leu1965Arg) c.5711T>G (p.Leu1904Arg) c.5432T>G (p.Leu1811Arg) c.4475T>G (p.Leu1492Arg) c.4466T>G (p.Leu1489Arg) | |
| 5 | g.37038723T>A | CA443905849 | NIPBL | c.6093T>A (p.Leu2031=) c.1-25855T>A (n.1-25855T>A) c.5349T>A (p.Leu1783=) c.5895T>A (p.Leu1965=) c.5712T>A (p.Leu1904=) c.5433T>A (p.Leu1811=) c.4476T>A (p.Leu1492=) c.4467T>A (p.Leu1489=) | |
| 5 | g.37038723T>C | CA443905850 | NIPBL | c.6093T>C (p.Leu2031=) c.1-25855T>C (n.1-25855T>C) c.5349T>C (p.Leu1783=) c.5895T>C (p.Leu1965=) c.5712T>C (p.Leu1904=) c.5433T>C (p.Leu1811=) c.4476T>C (p.Leu1492=) c.4467T>C (p.Leu1489=) | |
| 5 | g.37038723T>G | CA443905851 | NIPBL | c.6093T>G (p.Leu2031=) c.1-25855T>G (n.1-25855T>G) c.5349T>G (p.Leu1783=) c.5895T>G (p.Leu1965=) c.5712T>G (p.Leu1904=) c.5433T>G (p.Leu1811=) c.4476T>G (p.Leu1492=) c.4467T>G (p.Leu1489=) | |
| 5 | g.37038724A>C | CA359498787 | NIPBL | c.6094A>C (p.Thr2032Pro) c.1-25854A>C (n.1-25854A>C) c.5350A>C (p.Thr1784Pro) c.5896A>C (p.Thr1966Pro) c.5713A>C (p.Thr1905Pro) c.5434A>C (p.Thr1812Pro) c.4477A>C (p.Thr1493Pro) c.4468A>C (p.Thr1490Pro) | |
| 5 | g.37038724A>G | CA359498789 | NIPBL | c.6094A>G (p.Thr2032Ala) c.1-25854A>G (n.1-25854A>G) c.5350A>G (p.Thr1784Ala) c.5896A>G (p.Thr1966Ala) c.5713A>G (p.Thr1905Ala) c.5434A>G (p.Thr1812Ala) c.4477A>G (p.Thr1493Ala) c.4468A>G (p.Thr1490Ala) | |
| 5 | g.37038724A>T | CA359498794 | NIPBL | c.6094A>T (p.Thr2032Ser) c.1-25854A>T (n.1-25854A>T) c.5350A>T (p.Thr1784Ser) c.5896A>T (p.Thr1966Ser) c.5713A>T (p.Thr1905Ser) c.5434A>T (p.Thr1812Ser) c.4477A>T (p.Thr1493Ser) c.4468A>T (p.Thr1490Ser) | |
| 5 | g.37038725C>A | CA359498797 | NIPBL | c.6095C>A (p.Thr2032Asn) c.1-25853C>A (n.1-25853C>A) c.5351C>A (p.Thr1784Asn) c.5897C>A (p.Thr1966Asn) c.5714C>A (p.Thr1905Asn) c.5435C>A (p.Thr1812Asn) c.4478C>A (p.Thr1493Asn) c.4469C>A (p.Thr1490Asn) | |
| 5 | g.37038725C>G | CA359498800 | NIPBL | c.6095C>G (p.Thr2032Ser) c.1-25853C>G (n.1-25853C>G) c.5351C>G (p.Thr1784Ser) c.5897C>G (p.Thr1966Ser) c.5714C>G (p.Thr1905Ser) c.5435C>G (p.Thr1812Ser) c.4478C>G (p.Thr1493Ser) c.4469C>G (p.Thr1490Ser) | |
| 5 | g.37038725C>T | CA359498806 | NIPBL | c.6095C>T (p.Thr2032Ile) c.1-25853C>T (n.1-25853C>T) c.5351C>T (p.Thr1784Ile) c.5897C>T (p.Thr1966Ile) c.5714C>T (p.Thr1905Ile) c.5435C>T (p.Thr1812Ile) c.4478C>T (p.Thr1493Ile) c.4469C>T (p.Thr1490Ile) | |
| 5 | g.37038726C>A | CA443905852 | NIPBL | c.6096C>A (p.Thr2032=) c.1-25852C>A (n.1-25852C>A) c.5352C>A (p.Thr1784=) c.5898C>A (p.Thr1966=) c.5715C>A (p.Thr1905=) c.5436C>A (p.Thr1812=) c.4479C>A (p.Thr1493=) c.4470C>A (p.Thr1490=) | |
| 5 | g.37038726C>G | CA443905854 | NIPBL | c.6096C>G (p.Thr2032=) c.1-25852C>G (n.1-25852C>G) c.5352C>G (p.Thr1784=) c.5898C>G (p.Thr1966=) c.5715C>G (p.Thr1905=) c.5436C>G (p.Thr1812=) c.4479C>G (p.Thr1493=) c.4470C>G (p.Thr1490=) | |
| 5 | g.37038726C>T | CA443905853 | NIPBL | c.6096C>T (p.Thr2032=) c.1-25852C>T (n.1-25852C>T) c.5352C>T (p.Thr1784=) c.5898C>T (p.Thr1966=) c.5715C>T (p.Thr1905=) c.5436C>T (p.Thr1812=) c.4479C>T (p.Thr1493=) c.4470C>T (p.Thr1490=) | |
| 5 | g.37038727A>C | CA359498807 | NIPBL | c.6097A>C (p.Thr2033Pro) c.1-25851A>C (n.1-25851A>C) c.5353A>C (p.Thr1785Pro) c.5899A>C (p.Thr1967Pro) c.5716A>C (p.Thr1906Pro) c.5437A>C (p.Thr1813Pro) c.4480A>C (p.Thr1494Pro) c.4471A>C (p.Thr1491Pro) | |
| 5 | g.37038727A>G | CA359498808 | NIPBL | c.6097A>G (p.Thr2033Ala) c.1-25851A>G (n.1-25851A>G) c.5353A>G (p.Thr1785Ala) c.5899A>G (p.Thr1967Ala) c.5716A>G (p.Thr1906Ala) c.5437A>G (p.Thr1813Ala) c.4480A>G (p.Thr1494Ala) c.4471A>G (p.Thr1491Ala) | gnomAD v4 |
| 5 | g.37038727A>T | CA359498809 | NIPBL | c.6097A>T (p.Thr2033Ser) c.1-25851A>T (n.1-25851A>T) c.5353A>T (p.Thr1785Ser) c.5899A>T (p.Thr1967Ser) c.5716A>T (p.Thr1906Ser) c.5437A>T (p.Thr1813Ser) c.4480A>T (p.Thr1494Ser) c.4471A>T (p.Thr1491Ser) | |
| 5 | g.37038728C>A | CA359498810 | NIPBL | c.6098C>A (p.Thr2033Asn) c.1-25850C>A (n.1-25850C>A) c.5354C>A (p.Thr1785Asn) c.5900C>A (p.Thr1967Asn) c.5717C>A (p.Thr1906Asn) c.5438C>A (p.Thr1813Asn) c.4481C>A (p.Thr1494Asn) c.4472C>A (p.Thr1491Asn) | |
| 5 | g.37038728C>G | CA359498813 | NIPBL | c.6098C>G (p.Thr2033Ser) c.1-25850C>G (n.1-25850C>G) c.5354C>G (p.Thr1785Ser) c.5900C>G (p.Thr1967Ser) c.5717C>G (p.Thr1906Ser) c.5438C>G (p.Thr1813Ser) c.4481C>G (p.Thr1494Ser) c.4472C>G (p.Thr1491Ser) | ClinVar |
| 5 | g.37038728C>T | CA359498819 | NIPBL | c.6098C>T (p.Thr2033Ile) c.1-25850C>T (n.1-25850C>T) c.5354C>T (p.Thr1785Ile) c.5900C>T (p.Thr1967Ile) c.5717C>T (p.Thr1906Ile) c.5438C>T (p.Thr1813Ile) c.4481C>T (p.Thr1494Ile) c.4472C>T (p.Thr1491Ile) | |
| 5 | g.37038729T>A | CA443905855 | NIPBL | c.6099T>A (p.Thr2033=) c.1-25849T>A (n.1-25849T>A) c.5355T>A (p.Thr1785=) c.5901T>A (p.Thr1967=) c.5718T>A (p.Thr1906=) c.5439T>A (p.Thr1813=) c.4482T>A (p.Thr1494=) c.4473T>A (p.Thr1491=) | |
| 5 | g.37038729T>C | CA443905856 | NIPBL | c.6099T>C (p.Thr2033=) c.1-25849T>C (n.1-25849T>C) c.5355T>C (p.Thr1785=) c.5901T>C (p.Thr1967=) c.5718T>C (p.Thr1906=) c.5439T>C (p.Thr1813=) c.4482T>C (p.Thr1494=) c.4473T>C (p.Thr1491=) | |
| 5 | g.37038729T>G | CA443905857 | NIPBL | c.6099T>G (p.Thr2033=) c.1-25849T>G (n.1-25849T>G) c.5355T>G (p.Thr1785=) c.5901T>G (p.Thr1967=) c.5718T>G (p.Thr1906=) c.5439T>G (p.Thr1813=) c.4482T>G (p.Thr1494=) c.4473T>G (p.Thr1491=) | |
| 5 | g.37038730A>C | CA359498831 | NIPBL | c.6100A>C (p.Lys2034Gln) c.1-25848A>C (n.1-25848A>C) c.5356A>C (p.Lys1786Gln) c.5902A>C (p.Lys1968Gln) c.5719A>C (p.Lys1907Gln) c.5440A>C (p.Lys1814Gln) c.4483A>C (p.Lys1495Gln) c.4474A>C (p.Lys1492Gln) | |
| 5 | g.37038730A>G | CA359498823 | NIPBL | c.6100A>G (p.Lys2034Glu) c.1-25848A>G (n.1-25848A>G) c.5356A>G (p.Lys1786Glu) c.5902A>G (p.Lys1968Glu) c.5719A>G (p.Lys1907Glu) c.5440A>G (p.Lys1814Glu) c.4483A>G (p.Lys1495Glu) c.4474A>G (p.Lys1492Glu) | |
| 5 | g.37038730A>T | CA359498828 | NIPBL | c.6100A>T (p.Lys2034Ter) c.1-25848A>T (n.1-25848A>T) c.5356A>T (p.Lys1786Ter) c.5902A>T (p.Lys1968Ter) c.5719A>T (p.Lys1907Ter) c.5440A>T (p.Lys1814Ter) c.4483A>T (p.Lys1495Ter) c.4474A>T (p.Lys1492Ter) | |
| 5 | g.37038731A>C | CA359498835 | NIPBL | c.6101A>C (p.Lys2034Thr) c.1-25847A>C (n.1-25847A>C) c.5357A>C (p.Lys1786Thr) c.5903A>C (p.Lys1968Thr) c.5720A>C (p.Lys1907Thr) c.5441A>C (p.Lys1814Thr) c.4484A>C (p.Lys1495Thr) c.4475A>C (p.Lys1492Thr) | |
| 5 | g.37038731A>G | CA359498851 | NIPBL | c.6101A>G (p.Lys2034Arg) c.1-25847A>G (n.1-25847A>G) c.5357A>G (p.Lys1786Arg) c.5903A>G (p.Lys1968Arg) c.5720A>G (p.Lys1907Arg) c.5441A>G (p.Lys1814Arg) c.4484A>G (p.Lys1495Arg) c.4475A>G (p.Lys1492Arg) | |
| 5 | g.37038731A>T | CA359498859 | NIPBL | c.6101A>T (p.Lys2034Ile) c.1-25847A>T (n.1-25847A>T) c.5357A>T (p.Lys1786Ile) c.5903A>T (p.Lys1968Ile) c.5720A>T (p.Lys1907Ile) c.5441A>T (p.Lys1814Ile) c.4484A>T (p.Lys1495Ile) c.4475A>T (p.Lys1492Ile) | |
| 5 | g.37038732A>C | CA359498864 | NIPBL | c.6102A>C (p.Lys2034Asn) c.1-25846A>C (n.1-25846A>C) c.5358A>C (p.Lys1786Asn) c.5904A>C (p.Lys1968Asn) c.5721A>C (p.Lys1907Asn) c.5442A>C (p.Lys1814Asn) c.4485A>C (p.Lys1495Asn) c.4476A>C (p.Lys1492Asn) | |
| 5 | g.37038732A>G | CA443905858 | NIPBL | c.6102A>G (p.Lys2034=) c.1-25846A>G (n.1-25846A>G) c.5358A>G (p.Lys1786=) c.5904A>G (p.Lys1968=) c.5721A>G (p.Lys1907=) c.5442A>G (p.Lys1814=) c.4485A>G (p.Lys1495=) c.4476A>G (p.Lys1492=) | |
| 5 | g.37038732A>T | CA359498865 | NIPBL | c.6102A>T (p.Lys2034Asn) c.1-25846A>T (n.1-25846A>T) c.5358A>T (p.Lys1786Asn) c.5904A>T (p.Lys1968Asn) c.5721A>T (p.Lys1907Asn) c.5442A>T (p.Lys1814Asn) c.4485A>T (p.Lys1495Asn) c.4476A>T (p.Lys1492Asn) | |
| 5 | g.37038733T>A | CA359498866 | NIPBL | c.6103T>A (p.Cys2035Ser) c.1-25845T>A (n.1-25845T>A) c.5359T>A (p.Cys1787Ser) c.5905T>A (p.Cys1969Ser) c.5722T>A (p.Cys1908Ser) c.5443T>A (p.Cys1815Ser) c.4486T>A (p.Cys1496Ser) c.4477T>A (p.Cys1493Ser) | |
| 5 | g.37038733T>C | CA359498867 | NIPBL | c.6103T>C (p.Cys2035Arg) c.1-25845T>C (n.1-25845T>C) c.5359T>C (p.Cys1787Arg) c.5905T>C (p.Cys1969Arg) c.5722T>C (p.Cys1908Arg) c.5443T>C (p.Cys1815Arg) c.4486T>C (p.Cys1496Arg) c.4477T>C (p.Cys1493Arg) | |
| 5 | g.37038733T>G | CA359498871 | NIPBL | c.6103T>G (p.Cys2035Gly) c.1-25845T>G (n.1-25845T>G) c.5359T>G (p.Cys1787Gly) c.5905T>G (p.Cys1969Gly) c.5722T>G (p.Cys1908Gly) c.5443T>G (p.Cys1815Gly) c.4486T>G (p.Cys1496Gly) c.4477T>G (p.Cys1493Gly) | |
| 5 | g.37038734G>A | CA359498878 | NIPBL | c.6104G>A (p.Cys2035Tyr) c.1-25844G>A (n.1-25844G>A) c.5360G>A (p.Cys1787Tyr) c.5906G>A (p.Cys1969Tyr) c.5723G>A (p.Cys1908Tyr) c.5444G>A (p.Cys1815Tyr) c.4487G>A (p.Cys1496Tyr) c.4478G>A (p.Cys1493Tyr) | |
| 5 | g.37038734G>C | CA359498880 | NIPBL | c.6104G>C (p.Cys2035Ser) c.1-25844G>C (n.1-25844G>C) c.5360G>C (p.Cys1787Ser) c.5906G>C (p.Cys1969Ser) c.5723G>C (p.Cys1908Ser) c.5444G>C (p.Cys1815Ser) c.4487G>C (p.Cys1496Ser) c.4478G>C (p.Cys1493Ser) | |
| 5 | g.37038734G>T | CA359498882 | NIPBL | c.6104G>T (p.Cys2035Phe) c.1-25844G>T (n.1-25844G>T) c.5360G>T (p.Cys1787Phe) c.5906G>T (p.Cys1969Phe) c.5723G>T (p.Cys1908Phe) c.5444G>T (p.Cys1815Phe) c.4487G>T (p.Cys1496Phe) c.4478G>T (p.Cys1493Phe) | |
| 5 | g.37038735T>A | CA359498884 | NIPBL | c.6105T>A (p.Cys2035Ter) c.1-25843T>A (n.1-25843T>A) c.5361T>A (p.Cys1787Ter) c.5907T>A (p.Cys1969Ter) c.5724T>A (p.Cys1908Ter) c.5445T>A (p.Cys1815Ter) c.4488T>A (p.Cys1496Ter) c.4479T>A (p.Cys1493Ter) | |
| 5 | g.37038735T>C | CA443905859 | NIPBL | c.6105T>C (p.Cys2035=) c.1-25843T>C (n.1-25843T>C) c.5361T>C (p.Cys1787=) c.5907T>C (p.Cys1969=) c.5724T>C (p.Cys1908=) c.5445T>C (p.Cys1815=) c.4488T>C (p.Cys1496=) c.4479T>C (p.Cys1493=) | |
| 5 | g.37038735T>G | CA359498888 | NIPBL | c.6105T>G (p.Cys2035Trp) c.1-25843T>G (n.1-25843T>G) c.5361T>G (p.Cys1787Trp) c.5907T>G (p.Cys1969Trp) c.5724T>G (p.Cys1908Trp) c.5445T>G (p.Cys1815Trp) c.4488T>G (p.Cys1496Trp) c.4479T>G (p.Cys1493Trp) | |
| 5 | g.37038736A>C | CA359498892 | NIPBL | c.6106A>C (p.Ser2036Arg) c.1-25842A>C (n.1-25842A>C) c.5362A>C (p.Ser1788Arg) c.5908A>C (p.Ser1970Arg) c.5725A>C (p.Ser1909Arg) c.5446A>C (p.Ser1816Arg) c.4489A>C (p.Ser1497Arg) c.4480A>C (p.Ser1494Arg) | |
| 5 | g.37038736A>G | CA359498895 | NIPBL | c.6106A>G (p.Ser2036Gly) c.1-25842A>G (n.1-25842A>G) c.5362A>G (p.Ser1788Gly) c.5908A>G (p.Ser1970Gly) c.5725A>G (p.Ser1909Gly) c.5446A>G (p.Ser1816Gly) c.4489A>G (p.Ser1497Gly) c.4480A>G (p.Ser1494Gly) | |
| 5 | g.37038736A>T | CA359498910 | NIPBL | c.6106A>T (p.Ser2036Cys) c.1-25842A>T (n.1-25842A>T) c.5362A>T (p.Ser1788Cys) c.5908A>T (p.Ser1970Cys) c.5725A>T (p.Ser1909Cys) c.5446A>T (p.Ser1816Cys) c.4489A>T (p.Ser1497Cys) c.4480A>T (p.Ser1494Cys) | |
| 5 | g.37038737G>A | CA3236920 | NIPBL | c.6107G>A (p.Ser2036Asn) c.1-25841G>A (n.1-25841G>A) c.5363G>A (p.Ser1788Asn) c.5909G>A (p.Ser1970Asn) c.5726G>A (p.Ser1909Asn) c.5447G>A (p.Ser1816Asn) c.4490G>A (p.Ser1497Asn) c.4481G>A (p.Ser1494Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37038737G>C | CA359498922 | NIPBL | c.6107G>C (p.Ser2036Thr) c.1-25841G>C (n.1-25841G>C) c.5363G>C (p.Ser1788Thr) c.5909G>C (p.Ser1970Thr) c.5726G>C (p.Ser1909Thr) c.5447G>C (p.Ser1816Thr) c.4490G>C (p.Ser1497Thr) c.4481G>C (p.Ser1494Thr) | |
| 5 | g.37038737G= | CA1539611579 | NIPBL | c.6107G= (p.Ser2036=) c.1-25841G= (n.1-25841G=) c.5363G= (p.Ser1788=) c.5909G= (p.Ser1970=) c.5726G= (p.Ser1909=) c.5447G= (p.Ser1816=) c.4490G= (p.Ser1497=) c.4481G= (p.Ser1494=) | |
| 5 | g.37038737G>T | CA359498928 | NIPBL | c.6107G>T (p.Ser2036Ile) c.1-25841G>T (n.1-25841G>T) c.5363G>T (p.Ser1788Ile) c.5909G>T (p.Ser1970Ile) c.5726G>T (p.Ser1909Ile) c.5447G>T (p.Ser1816Ile) c.4490G>T (p.Ser1497Ile) c.4481G>T (p.Ser1494Ile) | |
| 5 | g.37038738T>A | CA359498931 | NIPBL | c.6108T>A (p.Ser2036Arg) c.1-25840T>A (n.1-25840T>A) c.5364T>A (p.Ser1788Arg) c.5910T>A (p.Ser1970Arg) c.5727T>A (p.Ser1909Arg) c.5448T>A (p.Ser1816Arg) c.4491T>A (p.Ser1497Arg) c.4482T>A (p.Ser1494Arg) | |
| 5 | g.37038738T>C | CA443905860 | NIPBL | c.6108T>C (p.Ser2036=) c.1-25840T>C (n.1-25840T>C) c.5364T>C (p.Ser1788=) c.5910T>C (p.Ser1970=) c.5727T>C (p.Ser1909=) c.5448T>C (p.Ser1816=) c.4491T>C (p.Ser1497=) c.4482T>C (p.Ser1494=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37038738T>G | CA359498939 | NIPBL | c.6108T>G (p.Ser2036Arg) c.1-25840T>G (n.1-25840T>G) c.5364T>G (p.Ser1788Arg) c.5910T>G (p.Ser1970Arg) c.5727T>G (p.Ser1909Arg) c.5448T>G (p.Ser1816Arg) c.4491T>G (p.Ser1497Arg) c.4482T>G (p.Ser1494Arg) | |
| 5 | g.37038738T= | CA1539611584 | NIPBL | c.6108T= (p.Ser2036=) c.1-25840T= (n.1-25840T=) c.5364T= (p.Ser1788=) c.5910T= (p.Ser1970=) c.5727T= (p.Ser1909=) c.5448T= (p.Ser1816=) c.4491T= (p.Ser1497=) c.4482T= (p.Ser1494=) | |
| 5 | g.37038739G>A | CA359498943 | NIPBL | c.6108+1G>A (n.6108+1G>A) c.1-25839G>A (n.1-25839G>A) c.5364+1G>A (n.5364+1G>A) c.5910+1G>A (n.5910+1G>A) c.5727+1G>A (n.5727+1G>A) c.5448+1G>A (n.5448+1G>A) c.4491+1G>A (n.4491+1G>A) c.4482+1G>A (n.4482+1G>A) | |
| 5 | g.37038739G>C | CA275220 | NIPBL | c.6108+1G>C (n.6108+1G>C) c.1-25839G>C (n.1-25839G>C) c.5364+1G>C (n.5364+1G>C) c.5910+1G>C (n.5910+1G>C) c.5727+1G>C (n.5727+1G>C) c.5448+1G>C (n.5448+1G>C) c.4491+1G>C (n.4491+1G>C) c.4482+1G>C (n.4482+1G>C) | ClinVar dbSNP |
| 5 | g.37038739G= | CA1539611593 | NIPBL | c.6108+1G= (n.6108+1G=) c.1-25839G= (n.1-25839G=) c.5364+1G= (n.5364+1G=) c.5910+1G= (n.5910+1G=) c.5727+1G= (n.5727+1G=) c.5448+1G= (n.5448+1G=) c.4491+1G= (n.4491+1G=) c.4482+1G= (n.4482+1G=) | |
| 5 | g.37038739G>T | CA272196 | NIPBL | c.6108+1G>T (n.6108+1G>T) c.1-25839G>T (n.1-25839G>T) c.5364+1G>T (n.5364+1G>T) c.5910+1G>T (n.5910+1G>T) c.5727+1G>T (n.5727+1G>T) c.5448+1G>T (n.5448+1G>T) c.4491+1G>T (n.4491+1G>T) c.4482+1G>T (n.4482+1G>T) | ClinVar dbSNP |
| 5 | g.37038740T>A | CA359498967 | NIPBL | c.6108+2T>A (n.6108+2T>A) c.1-25838T>A (n.1-25838T>A) c.5364+2T>A (n.5364+2T>A) c.5910+2T>A (n.5910+2T>A) c.5727+2T>A (n.5727+2T>A) c.5448+2T>A (n.5448+2T>A) c.4491+2T>A (n.4491+2T>A) c.4482+2T>A (n.4482+2T>A) | |
| 5 | g.37038740T>C | CA277253 | NIPBL | c.6108+2T>C (n.6108+2T>C) c.1-25838T>C (n.1-25838T>C) c.5364+2T>C (n.5364+2T>C) c.5910+2T>C (n.5910+2T>C) c.5727+2T>C (n.5727+2T>C) c.5448+2T>C (n.5448+2T>C) c.4491+2T>C (n.4491+2T>C) c.4482+2T>C (n.4482+2T>C) | ClinVar dbSNP |
| 5 | g.37038740T>G | CA359498951 | NIPBL | c.6108+2T>G (n.6108+2T>G) c.1-25838T>G (n.1-25838T>G) c.5364+2T>G (n.5364+2T>G) c.5910+2T>G (n.5910+2T>G) c.5727+2T>G (n.5727+2T>G) c.5448+2T>G (n.5448+2T>G) c.4491+2T>G (n.4491+2T>G) c.4482+2T>G (n.4482+2T>G) | |
| 5 | g.37038740T= | CA1539611600 | NIPBL | c.6108+2T= (n.6108+2T=) c.1-25838T= (n.1-25838T=) c.5364+2T= (n.5364+2T=) c.5910+2T= (n.5910+2T=) c.5727+2T= (n.5727+2T=) c.5448+2T= (n.5448+2T=) c.4491+2T= (n.4491+2T=) c.4482+2T= (n.4482+2T=) | |
| 5 | g.37038742A>C | CA2695204438 | NIPBL | c.6108+4A>C (n.6108+4A>C) c.1-25836A>C (n.1-25836A>C) c.5364+4A>C (n.5364+4A>C) c.5910+4A>C (n.5910+4A>C) c.5727+4A>C (n.5727+4A>C) c.5448+4A>C (n.5448+4A>C) c.4491+4A>C (n.4491+4A>C) c.4482+4A>C (n.4482+4A>C) | |
| 5 | g.37038743G>A | CA16042619 | NIPBL | c.6108+5G>A (n.6108+5G>A) c.1-25835G>A (n.1-25835G>A) c.5364+5G>A (n.5364+5G>A) c.5910+5G>A (n.5910+5G>A) c.5727+5G>A (n.5727+5G>A) c.5448+5G>A (n.5448+5G>A) c.4491+5G>A (n.4491+5G>A) c.4482+5G>A (n.4482+5G>A) | ClinVar dbSNP |
| 5 | g.37038743G= | CA1539611604 | NIPBL | c.6108+5G= (n.6108+5G=) c.1-25835G= (n.1-25835G=) c.5364+5G= (n.5364+5G=) c.5910+5G= (n.5910+5G=) c.5727+5G= (n.5727+5G=) c.5448+5G= (n.5448+5G=) c.4491+5G= (n.4491+5G=) c.4482+5G= (n.4482+5G=) | |
| 5 | g.37038745A= | CA1539611607 | NIPBL | c.6108+7A= (n.6108+7A=) c.1-25833A= (n.1-25833A=) c.5364+7A= (n.5364+7A=) c.5910+7A= (n.5910+7A=) c.5727+7A= (n.5727+7A=) c.5448+7A= (n.5448+7A=) c.4491+7A= (n.4491+7A=) c.4482+7A= (n.4482+7A=) | |
| 5 | g.37038745A>G | CA272197 | NIPBL | c.6108+7A>G (n.6108+7A>G) c.1-25833A>G (n.1-25833A>G) c.5364+7A>G (n.5364+7A>G) c.5910+7A>G (n.5910+7A>G) c.5727+7A>G (n.5727+7A>G) c.5448+7A>G (n.5448+7A>G) c.4491+7A>G (n.4491+7A>G) c.4482+7A>G (n.4482+7A>G) | ClinVar dbSNP |