| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045581T>A | CA359504862 | NIPBL | c.6482T>A (p.Phe2161Tyr) c.1-18997T>A (n.1-18997T>A) c.5738T>A (p.Phe1913Tyr) c.6284T>A (p.Phe2095Tyr) c.6101T>A (p.Phe2034Tyr) c.5822T>A (p.Phe1941Tyr) c.4865T>A (p.Phe1622Tyr) c.4856T>A (p.Phe1619Tyr) | |
| 5 | g.37045581T>C | CA359504877 | NIPBL | c.6482T>C (p.Phe2161Ser) c.1-18997T>C (n.1-18997T>C) c.5738T>C (p.Phe1913Ser) c.6284T>C (p.Phe2095Ser) c.6101T>C (p.Phe2034Ser) c.5822T>C (p.Phe1941Ser) c.4865T>C (p.Phe1622Ser) c.4856T>C (p.Phe1619Ser) | |
| 5 | g.37045581T>G | CA359504851 | NIPBL | c.6482T>G (p.Phe2161Cys) c.1-18997T>G (n.1-18997T>G) c.5738T>G (p.Phe1913Cys) c.6284T>G (p.Phe2095Cys) c.6101T>G (p.Phe2034Cys) c.5822T>G (p.Phe1941Cys) c.4865T>G (p.Phe1622Cys) c.4856T>G (p.Phe1619Cys) | |
| 5 | g.37045582T>A | CA359504882 | NIPBL | c.6483T>A (p.Phe2161Leu) c.1-18996T>A (n.1-18996T>A) c.5739T>A (p.Phe1913Leu) c.6285T>A (p.Phe2095Leu) c.6102T>A (p.Phe2034Leu) c.5823T>A (p.Phe1941Leu) c.4866T>A (p.Phe1622Leu) c.4857T>A (p.Phe1619Leu) | |
| 5 | g.37045582T>C | CA443907002 | NIPBL | c.6483T>C (p.Phe2161=) c.1-18996T>C (n.1-18996T>C) c.5739T>C (p.Phe1913=) c.6285T>C (p.Phe2095=) c.6102T>C (p.Phe2034=) c.5823T>C (p.Phe1941=) c.4866T>C (p.Phe1622=) c.4857T>C (p.Phe1619=) | |
| 5 | g.37045582T>G | CA359504880 | NIPBL | c.6483T>G (p.Phe2161Leu) c.1-18996T>G (n.1-18996T>G) c.5739T>G (p.Phe1913Leu) c.6285T>G (p.Phe2095Leu) c.6102T>G (p.Phe2034Leu) c.5823T>G (p.Phe1941Leu) c.4866T>G (p.Phe1622Leu) c.4857T>G (p.Phe1619Leu) | |
| 5 | g.37045583A>C | CA359504884 | NIPBL | c.6484A>C (p.Lys2162Gln) c.1-18995A>C (n.1-18995A>C) c.5740A>C (p.Lys1914Gln) c.6286A>C (p.Lys2096Gln) c.6103A>C (p.Lys2035Gln) c.5824A>C (p.Lys1942Gln) c.4867A>C (p.Lys1623Gln) c.4858A>C (p.Lys1620Gln) | |
| 5 | g.37045583A>G | CA359504886 | NIPBL | c.6484A>G (p.Lys2162Glu) c.1-18995A>G (n.1-18995A>G) c.5740A>G (p.Lys1914Glu) c.6286A>G (p.Lys2096Glu) c.6103A>G (p.Lys2035Glu) c.5824A>G (p.Lys1942Glu) c.4867A>G (p.Lys1623Glu) c.4858A>G (p.Lys1620Glu) | |
| 5 | g.37045583A>T | CA359504889 | NIPBL | c.6484A>T (p.Lys2162Ter) c.1-18995A>T (n.1-18995A>T) c.5740A>T (p.Lys1914Ter) c.6286A>T (p.Lys2096Ter) c.6103A>T (p.Lys2035Ter) c.5824A>T (p.Lys1942Ter) c.4867A>T (p.Lys1623Ter) c.4858A>T (p.Lys1620Ter) | |
| 5 | g.37045584A>C | CA359504892 | NIPBL | c.6485A>C (p.Lys2162Thr) c.1-18994A>C (n.1-18994A>C) c.5741A>C (p.Lys1914Thr) c.6287A>C (p.Lys2096Thr) c.6104A>C (p.Lys2035Thr) c.5825A>C (p.Lys1942Thr) c.4868A>C (p.Lys1623Thr) c.4859A>C (p.Lys1620Thr) | |
| 5 | g.37045584A>G | CA359504896 | NIPBL | c.6485A>G (p.Lys2162Arg) c.1-18994A>G (n.1-18994A>G) c.5741A>G (p.Lys1914Arg) c.6287A>G (p.Lys2096Arg) c.6104A>G (p.Lys2035Arg) c.5825A>G (p.Lys1942Arg) c.4868A>G (p.Lys1623Arg) c.4859A>G (p.Lys1620Arg) | |
| 5 | g.37045584A>T | CA359504904 | NIPBL | c.6485A>T (p.Lys2162Ile) c.1-18994A>T (n.1-18994A>T) c.5741A>T (p.Lys1914Ile) c.6287A>T (p.Lys2096Ile) c.6104A>T (p.Lys2035Ile) c.5825A>T (p.Lys1942Ile) c.4868A>T (p.Lys1623Ile) c.4859A>T (p.Lys1620Ile) | |
| 5 | g.37045585A= | CA1539618605 | NIPBL | c.6486A= (p.Lys2162=) c.1-18993A= (n.1-18993A=) c.5742A= (p.Lys1914=) c.6288A= (p.Lys2096=) c.6105A= (p.Lys2035=) c.5826A= (p.Lys1942=) c.4869A= (p.Lys1623=) c.4860A= (p.Lys1620=) | |
| 5 | g.37045585A>C | CA359504910 | NIPBL | c.6486A>C (p.Lys2162Asn) c.1-18993A>C (n.1-18993A>C) c.5742A>C (p.Lys1914Asn) c.6288A>C (p.Lys2096Asn) c.6105A>C (p.Lys2035Asn) c.5826A>C (p.Lys1942Asn) c.4869A>C (p.Lys1623Asn) c.4860A>C (p.Lys1620Asn) | |
| 5 | g.37045585A>G | CA443907003 | NIPBL | c.6486A>G (p.Lys2162=) c.1-18993A>G (n.1-18993A>G) c.5742A>G (p.Lys1914=) c.6288A>G (p.Lys2096=) c.6105A>G (p.Lys2035=) c.5826A>G (p.Lys1942=) c.4869A>G (p.Lys1623=) c.4860A>G (p.Lys1620=) | |
| 5 | g.37045585A>T | CA359504920 | NIPBL | c.6486A>T (p.Lys2162Asn) c.1-18993A>T (n.1-18993A>T) c.5742A>T (p.Lys1914Asn) c.6288A>T (p.Lys2096Asn) c.6105A>T (p.Lys2035Asn) c.5826A>T (p.Lys1942Asn) c.4869A>T (p.Lys1623Asn) c.4860A>T (p.Lys1620Asn) | dbSNP gnomAD v2 |
| 5 | g.37045586G>A | CA359504926 | NIPBL | c.6487G>A (p.Gly2163Ser) c.1-18992G>A (n.1-18992G>A) c.5743G>A (p.Gly1915Ser) c.6289G>A (p.Gly2097Ser) c.6106G>A (p.Gly2036Ser) c.5827G>A (p.Gly1943Ser) c.4870G>A (p.Gly1624Ser) c.4861G>A (p.Gly1621Ser) | |
| 5 | g.37045586G>C | CA359504929 | NIPBL | c.6487G>C (p.Gly2163Arg) c.1-18992G>C (n.1-18992G>C) c.5743G>C (p.Gly1915Arg) c.6289G>C (p.Gly2097Arg) c.6106G>C (p.Gly2036Arg) c.5827G>C (p.Gly1943Arg) c.4870G>C (p.Gly1624Arg) c.4861G>C (p.Gly1621Arg) | |
| 5 | g.37045586G>T | CA359504930 | NIPBL | c.6487G>T (p.Gly2163Cys) c.1-18992G>T (n.1-18992G>T) c.5743G>T (p.Gly1915Cys) c.6289G>T (p.Gly2097Cys) c.6106G>T (p.Gly2036Cys) c.5827G>T (p.Gly1943Cys) c.4870G>T (p.Gly1624Cys) c.4861G>T (p.Gly1621Cys) | |
| 5 | g.37045587G>A | CA359504934 | NIPBL | c.6488G>A (p.Gly2163Asp) c.1-18991G>A (n.1-18991G>A) c.5744G>A (p.Gly1915Asp) c.6290G>A (p.Gly2097Asp) c.6107G>A (p.Gly2036Asp) c.5828G>A (p.Gly1943Asp) c.4871G>A (p.Gly1624Asp) c.4862G>A (p.Gly1621Asp) | |
| 5 | g.37045587G>C | CA359504937 | NIPBL | c.6488G>C (p.Gly2163Ala) c.1-18991G>C (n.1-18991G>C) c.5744G>C (p.Gly1915Ala) c.6290G>C (p.Gly2097Ala) c.6107G>C (p.Gly2036Ala) c.5828G>C (p.Gly1943Ala) c.4871G>C (p.Gly1624Ala) c.4862G>C (p.Gly1621Ala) | |
| 5 | g.37045587G>T | CA359504931 | NIPBL | c.6488G>T (p.Gly2163Val) c.1-18991G>T (n.1-18991G>T) c.5744G>T (p.Gly1915Val) c.6290G>T (p.Gly2097Val) c.6107G>T (p.Gly2036Val) c.5828G>T (p.Gly1943Val) c.4871G>T (p.Gly1624Val) c.4862G>T (p.Gly1621Val) | |
| 5 | g.37045588C>A | CA443907006 | NIPBL | c.6489C>A (p.Gly2163=) c.1-18990C>A (n.1-18990C>A) c.5745C>A (p.Gly1915=) c.6291C>A (p.Gly2097=) c.6108C>A (p.Gly2036=) c.5829C>A (p.Gly1943=) c.4872C>A (p.Gly1624=) c.4863C>A (p.Gly1621=) | |
| 5 | g.37045588C>G | CA443907005 | NIPBL | c.6489C>G (p.Gly2163=) c.1-18990C>G (n.1-18990C>G) c.5745C>G (p.Gly1915=) c.6291C>G (p.Gly2097=) c.6108C>G (p.Gly2036=) c.5829C>G (p.Gly1943=) c.4872C>G (p.Gly1624=) c.4863C>G (p.Gly1621=) | |
| 5 | g.37045588C>T | CA443907004 | NIPBL | c.6489C>T (p.Gly2163=) c.1-18990C>T (n.1-18990C>T) c.5745C>T (p.Gly1915=) c.6291C>T (p.Gly2097=) c.6108C>T (p.Gly2036=) c.5829C>T (p.Gly1943=) c.4872C>T (p.Gly1624=) c.4863C>T (p.Gly1621=) | |
| 5 | g.37045589A>C | CA359504942 | NIPBL | c.6490A>C (p.Asn2164His) c.1-18989A>C (n.1-18989A>C) c.5746A>C (p.Asn1916His) c.6292A>C (p.Asn2098His) c.6109A>C (p.Asn2037His) c.5830A>C (p.Asn1944His) c.4873A>C (p.Asn1625His) c.4864A>C (p.Asn1622His) | |
| 5 | g.37045589A>G | CA359504944 | NIPBL | c.6490A>G (p.Asn2164Asp) c.1-18989A>G (n.1-18989A>G) c.5746A>G (p.Asn1916Asp) c.6292A>G (p.Asn2098Asp) c.6109A>G (p.Asn2037Asp) c.5830A>G (p.Asn1944Asp) c.4873A>G (p.Asn1625Asp) c.4864A>G (p.Asn1622Asp) | |
| 5 | g.37045589A>T | CA359504945 | NIPBL | c.6490A>T (p.Asn2164Tyr) c.1-18989A>T (n.1-18989A>T) c.5746A>T (p.Asn1916Tyr) c.6292A>T (p.Asn2098Tyr) c.6109A>T (p.Asn2037Tyr) c.5830A>T (p.Asn1944Tyr) c.4873A>T (p.Asn1625Tyr) c.4864A>T (p.Asn1622Tyr) | |
| 5 | g.37045589_37045590insCCT | CA2534951874 | NIPBL | c.6490_6491insCCT (p.Asn2164delinsThrTyr) c.1-18989_1-18988insCCT (n.1-18989_1-18988insCCT) c.5746_5747insCCT (p.Asn1916delinsThrTyr) c.6292_6293insCCT (p.Asn2098delinsThrTyr) c.6109_6110insCCT (p.Asn2037delinsThrTyr) c.5830_5831insCCT (p.Asn1944delinsThrTyr) c.4873_4874insCCT (p.Asn1625delinsThrTyr) c.4864_4865insCCT (p.Asn1622delinsThrTyr) | |
| 5 | g.37045590A= | CA1539618607 | NIPBL | c.6491A= (p.Asn2164=) c.1-18988A= (n.1-18988A=) c.5747A= (p.Asn1916=) c.6293A= (p.Asn2098=) c.6110A= (p.Asn2037=) c.5831A= (p.Asn1944=) c.4874A= (p.Asn1625=) c.4865A= (p.Asn1622=) | |
| 5 | g.37045590A>C | CA359504950 | NIPBL | c.6491A>C (p.Asn2164Thr) c.1-18988A>C (n.1-18988A>C) c.5747A>C (p.Asn1916Thr) c.6293A>C (p.Asn2098Thr) c.6110A>C (p.Asn2037Thr) c.5831A>C (p.Asn1944Thr) c.4874A>C (p.Asn1625Thr) c.4865A>C (p.Asn1622Thr) | dbSNP gnomAD v2 |
| 5 | g.37045590A>G | CA359504956 | NIPBL | c.6491A>G (p.Asn2164Ser) c.1-18988A>G (n.1-18988A>G) c.5747A>G (p.Asn1916Ser) c.6293A>G (p.Asn2098Ser) c.6110A>G (p.Asn2037Ser) c.5831A>G (p.Asn1944Ser) c.4874A>G (p.Asn1625Ser) c.4865A>G (p.Asn1622Ser) | |
| 5 | g.37045590A>T | CA359504972 | NIPBL | c.6491A>T (p.Asn2164Ile) c.1-18988A>T (n.1-18988A>T) c.5747A>T (p.Asn1916Ile) c.6293A>T (p.Asn2098Ile) c.6110A>T (p.Asn2037Ile) c.5831A>T (p.Asn1944Ile) c.4874A>T (p.Asn1625Ile) c.4865A>T (p.Asn1622Ile) | |
| 5 | g.37045591C>A | CA359504974 | NIPBL | c.6492C>A (p.Asn2164Lys) c.1-18987C>A (n.1-18987C>A) c.5748C>A (p.Asn1916Lys) c.6294C>A (p.Asn2098Lys) c.6111C>A (p.Asn2037Lys) c.5832C>A (p.Asn1944Lys) c.4875C>A (p.Asn1625Lys) c.4866C>A (p.Asn1622Lys) | |
| 5 | g.37045591C= | CA1539618609 | NIPBL | c.6492C= (p.Asn2164=) c.1-18987C= (n.1-18987C=) c.5748C= (p.Asn1916=) c.6294C= (p.Asn2098=) c.6111C= (p.Asn2037=) c.5832C= (p.Asn1944=) c.4875C= (p.Asn1625=) c.4866C= (p.Asn1622=) | |
| 5 | g.37045591C>G | CA359504977 | NIPBL | c.6492C>G (p.Asn2164Lys) c.1-18987C>G (n.1-18987C>G) c.5748C>G (p.Asn1916Lys) c.6294C>G (p.Asn2098Lys) c.6111C>G (p.Asn2037Lys) c.5832C>G (p.Asn1944Lys) c.4875C>G (p.Asn1625Lys) c.4866C>G (p.Asn1622Lys) | |
| 5 | g.37045591C>T | CA443907007 | NIPBL | c.6492C>T (p.Asn2164=) c.1-18987C>T (n.1-18987C>T) c.5748C>T (p.Asn1916=) c.6294C>T (p.Asn2098=) c.6111C>T (p.Asn2037=) c.5832C>T (p.Asn1944=) c.4875C>T (p.Asn1625=) c.4866C>T (p.Asn1622=) | dbSNP gnomAD v4 |
| 5 | g.37045592A>C | CA359504989 | NIPBL | c.6493A>C (p.Ser2165Arg) c.1-18986A>C (n.1-18986A>C) c.5749A>C (p.Ser1917Arg) c.6295A>C (p.Ser2099Arg) c.6112A>C (p.Ser2038Arg) c.5833A>C (p.Ser1945Arg) c.4876A>C (p.Ser1626Arg) c.4867A>C (p.Ser1623Arg) | |
| 5 | g.37045592A>G | CA359505004 | NIPBL | c.6493A>G (p.Ser2165Gly) c.1-18986A>G (n.1-18986A>G) c.5749A>G (p.Ser1917Gly) c.6295A>G (p.Ser2099Gly) c.6112A>G (p.Ser2038Gly) c.5833A>G (p.Ser1945Gly) c.4876A>G (p.Ser1626Gly) c.4867A>G (p.Ser1623Gly) | gnomAD v4 |
| 5 | g.37045592A>T | CA359505011 | NIPBL | c.6493A>T (p.Ser2165Cys) c.1-18986A>T (n.1-18986A>T) c.5749A>T (p.Ser1917Cys) c.6295A>T (p.Ser2099Cys) c.6112A>T (p.Ser2038Cys) c.5833A>T (p.Ser1945Cys) c.4876A>T (p.Ser1626Cys) c.4867A>T (p.Ser1623Cys) | |
| 5 | g.37045593G>A | CA359505016 | NIPBL | c.6494G>A (p.Ser2165Asn) c.1-18985G>A (n.1-18985G>A) c.5750G>A (p.Ser1917Asn) c.6296G>A (p.Ser2099Asn) c.6113G>A (p.Ser2038Asn) c.5834G>A (p.Ser1945Asn) c.4877G>A (p.Ser1626Asn) c.4868G>A (p.Ser1623Asn) | COSMIC COSMIC |
| 5 | g.37045593G>C | CA359505035 | NIPBL | c.6494G>C (p.Ser2165Thr) c.1-18985G>C (n.1-18985G>C) c.5750G>C (p.Ser1917Thr) c.6296G>C (p.Ser2099Thr) c.6113G>C (p.Ser2038Thr) c.5834G>C (p.Ser1945Thr) c.4877G>C (p.Ser1626Thr) c.4868G>C (p.Ser1623Thr) | |
| 5 | g.37045593G= | CA1539618612 | NIPBL | c.6494G= (p.Ser2165=) c.1-18985G= (n.1-18985G=) c.5750G= (p.Ser1917=) c.6296G= (p.Ser2099=) c.6113G= (p.Ser2038=) c.5834G= (p.Ser1945=) c.4877G= (p.Ser1626=) c.4868G= (p.Ser1623=) | |
| 5 | g.37045593G>T | CA359505048 | NIPBL | c.6494G>T (p.Ser2165Ile) c.1-18985G>T (n.1-18985G>T) c.5750G>T (p.Ser1917Ile) c.6296G>T (p.Ser2099Ile) c.6113G>T (p.Ser2038Ile) c.5834G>T (p.Ser1945Ile) c.4877G>T (p.Ser1626Ile) c.4868G>T (p.Ser1623Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37045594C>A | CA359505057 | NIPBL | c.6495C>A (p.Ser2165Arg) c.1-18984C>A (n.1-18984C>A) c.5751C>A (p.Ser1917Arg) c.6297C>A (p.Ser2099Arg) c.6114C>A (p.Ser2038Arg) c.5835C>A (p.Ser1945Arg) c.4878C>A (p.Ser1626Arg) c.4869C>A (p.Ser1623Arg) | |
| 5 | g.37045594C>G | CA359505063 | NIPBL | c.6495C>G (p.Ser2165Arg) c.1-18984C>G (n.1-18984C>G) c.5751C>G (p.Ser1917Arg) c.6297C>G (p.Ser2099Arg) c.6114C>G (p.Ser2038Arg) c.5835C>G (p.Ser1945Arg) c.4878C>G (p.Ser1626Arg) c.4869C>G (p.Ser1623Arg) | |
| 5 | g.37045594C>T | CA443907010 | NIPBL | c.6495C>T (p.Ser2165=) c.1-18984C>T (n.1-18984C>T) c.5751C>T (p.Ser1917=) c.6297C>T (p.Ser2099=) c.6114C>T (p.Ser2038=) c.5835C>T (p.Ser1945=) c.4878C>T (p.Ser1626=) c.4869C>T (p.Ser1623=) | |
| 5 | g.37045594_37045600delinsCAAGGTA | CA1539618615 | NIPBL | c.6495_6498+3delinsCAAGGTA c.1-18984_1-18978delinsCAAGGTA (n.1-18984_1-18978delinsCAAGGTA) c.5751_5754+3delinsCAAGGTA c.6297_6300+3delinsCAAGGTA c.6114_6117+3delinsCAAGGTA c.5835_5838+3delinsCAAGGTA c.4878_4881+3delinsCAAGGTA c.4869_4872+3delinsCAAGGTA | |
| 5 | g.37045595A>C | CA359505069 | NIPBL | c.6496A>C (p.Lys2166Gln) c.1-18983A>C (n.1-18983A>C) c.5752A>C (p.Lys1918Gln) c.6298A>C (p.Lys2100Gln) c.6115A>C (p.Lys2039Gln) c.5836A>C (p.Lys1946Gln) c.4879A>C (p.Lys1627Gln) c.4870A>C (p.Lys1624Gln) | |
| 5 | g.37045595A>G | CA359505082 | NIPBL | c.6496A>G (p.Lys2166Glu) c.1-18983A>G (n.1-18983A>G) c.5752A>G (p.Lys1918Glu) c.6298A>G (p.Lys2100Glu) c.6115A>G (p.Lys2039Glu) c.5836A>G (p.Lys1946Glu) c.4879A>G (p.Lys1627Glu) c.4870A>G (p.Lys1624Glu) |