| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37038643T>A | CA359498058 | NIPBL | c.6013T>A (p.Cys2005Ser) c.1-25935T>A (n.1-25935T>A) c.5269T>A (p.Cys1757Ser) c.5815T>A (p.Cys1939Ser) c.5632T>A (p.Cys1878Ser) c.5353T>A (p.Cys1785Ser) c.4396T>A (p.Cys1466Ser) c.4387T>A (p.Cys1463Ser) | |
| 5 | g.37038643T>C | CA359498066 | NIPBL | c.6013T>C (p.Cys2005Arg) c.1-25935T>C (n.1-25935T>C) c.5269T>C (p.Cys1757Arg) c.5815T>C (p.Cys1939Arg) c.5632T>C (p.Cys1878Arg) c.5353T>C (p.Cys1785Arg) c.4396T>C (p.Cys1466Arg) c.4387T>C (p.Cys1463Arg) | |
| 5 | g.37038643T>G | CA359498070 | NIPBL | c.6013T>G (p.Cys2005Gly) c.1-25935T>G (n.1-25935T>G) c.5269T>G (p.Cys1757Gly) c.5815T>G (p.Cys1939Gly) c.5632T>G (p.Cys1878Gly) c.5353T>G (p.Cys1785Gly) c.4396T>G (p.Cys1466Gly) c.4387T>G (p.Cys1463Gly) | |
| 5 | g.37038644G>A | CA359498072 | NIPBL | c.6014G>A (p.Cys2005Tyr) c.1-25934G>A (n.1-25934G>A) c.5270G>A (p.Cys1757Tyr) c.5816G>A (p.Cys1939Tyr) c.5633G>A (p.Cys1878Tyr) c.5354G>A (p.Cys1785Tyr) c.4397G>A (p.Cys1466Tyr) c.4388G>A (p.Cys1463Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37038644G>C | CA359498073 | NIPBL | c.6014G>C (p.Cys2005Ser) c.1-25934G>C (n.1-25934G>C) c.5270G>C (p.Cys1757Ser) c.5816G>C (p.Cys1939Ser) c.5633G>C (p.Cys1878Ser) c.5354G>C (p.Cys1785Ser) c.4397G>C (p.Cys1466Ser) c.4388G>C (p.Cys1463Ser) | |
| 5 | g.37038644G= | CA1539611484 | NIPBL | c.6014G= (p.Cys2005=) c.1-25934G= (n.1-25934G=) c.5270G= (p.Cys1757=) c.5816G= (p.Cys1939=) c.5633G= (p.Cys1878=) c.5354G= (p.Cys1785=) c.4397G= (p.Cys1466=) c.4388G= (p.Cys1463=) | |
| 5 | g.37038644G>T | CA359498074 | NIPBL | c.6014G>T (p.Cys2005Phe) c.1-25934G>T (n.1-25934G>T) c.5270G>T (p.Cys1757Phe) c.5816G>T (p.Cys1939Phe) c.5633G>T (p.Cys1878Phe) c.5354G>T (p.Cys1785Phe) c.4397G>T (p.Cys1466Phe) c.4388G>T (p.Cys1463Phe) | |
| 5 | g.37038645C>A | CA359498078 | NIPBL | c.6015C>A (p.Cys2005Ter) c.1-25933C>A (n.1-25933C>A) c.5271C>A (p.Cys1757Ter) c.5817C>A (p.Cys1939Ter) c.5634C>A (p.Cys1878Ter) c.5355C>A (p.Cys1785Ter) c.4398C>A (p.Cys1466Ter) c.4389C>A (p.Cys1463Ter) | |
| 5 | g.37038645C>G | CA359498086 | NIPBL | c.6015C>G (p.Cys2005Trp) c.1-25933C>G (n.1-25933C>G) c.5271C>G (p.Cys1757Trp) c.5817C>G (p.Cys1939Trp) c.5634C>G (p.Cys1878Trp) c.5355C>G (p.Cys1785Trp) c.4398C>G (p.Cys1466Trp) c.4389C>G (p.Cys1463Trp) | |
| 5 | g.37038645C>T | CA443905805 | NIPBL | c.6015C>T (p.Cys2005=) c.1-25933C>T (n.1-25933C>T) c.5271C>T (p.Cys1757=) c.5817C>T (p.Cys1939=) c.5634C>T (p.Cys1878=) c.5355C>T (p.Cys1785=) c.4398C>T (p.Cys1466=) c.4389C>T (p.Cys1463=) | gnomAD v4 |
| 5 | g.37038646A= | CA1539611488 | NIPBL | c.6016A= (p.Ile2006=) c.1-25932A= (n.1-25932A=) c.5272A= (p.Ile1758=) c.5818A= (p.Ile1940=) c.5635A= (p.Ile1879=) c.5356A= (p.Ile1786=) c.4399A= (p.Ile1467=) c.4390A= (p.Ile1464=) | |
| 5 | g.37038646A>C | CA359498090 | NIPBL | c.6016A>C (p.Ile2006Leu) c.1-25932A>C (n.1-25932A>C) c.5272A>C (p.Ile1758Leu) c.5818A>C (p.Ile1940Leu) c.5635A>C (p.Ile1879Leu) c.5356A>C (p.Ile1786Leu) c.4399A>C (p.Ile1467Leu) c.4390A>C (p.Ile1464Leu) | |
| 5 | g.37038646A>G | CA359498091 | NIPBL | c.6016A>G (p.Ile2006Val) c.1-25932A>G (n.1-25932A>G) c.5272A>G (p.Ile1758Val) c.5818A>G (p.Ile1940Val) c.5635A>G (p.Ile1879Val) c.5356A>G (p.Ile1786Val) c.4399A>G (p.Ile1467Val) c.4390A>G (p.Ile1464Val) | dbSNP |
| 5 | g.37038646A>T | CA359498092 | NIPBL | c.6016A>T (p.Ile2006Leu) c.1-25932A>T (n.1-25932A>T) c.5272A>T (p.Ile1758Leu) c.5818A>T (p.Ile1940Leu) c.5635A>T (p.Ile1879Leu) c.5356A>T (p.Ile1786Leu) c.4399A>T (p.Ile1467Leu) c.4390A>T (p.Ile1464Leu) | |
| 5 | g.37038647_37038648dup | CA2697547124 | NIPBL | c.6017_6018dup (p.Thr2007Ter) c.1-25931_1-25930dup (n.1-25931_1-25930dup) c.5273_5274dup (p.Thr1759Ter) c.5819_5820dup (p.Thr1941Ter) c.5636_5637dup (p.Thr1880Ter) c.5357_5358dup (p.Thr1787Ter) c.4400_4401dup (p.Thr1468Ter) c.4391_4392dup (p.Thr1465Ter) | |
| 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=) | 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) |