| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37045508_37045511del | CA2695204415 | NIPBL | c.6409_6412del (p.Lys2137GlnfsTer?) c.1-19070_1-19067del (n.1-19070_1-19067del) c.5665_5668del (p.Lys1889GlnfsTer?) c.6211_6214del (p.Lys2071GlnfsTer?) c.6028_6031del (p.Lys2010GlnfsTer?) c.5749_5752del (p.Lys1917GlnfsTer?) c.4792_4795del (p.Lys1598GlnfsTer?) c.4783_4786del (p.Lys1595GlnfsTer?) | |
| 5 | g.37045504A>C | CA443906840 | NIPBL | c.6405A>C (p.Thr2135=) c.1-19074A>C (n.1-19074A>C) c.5661A>C (p.Thr1887=) c.6207A>C (p.Thr2069=) c.6024A>C (p.Thr2008=) c.5745A>C (p.Thr1915=) c.4788A>C (p.Thr1596=) c.4779A>C (p.Thr1593=) | |
| 5 | g.37045504A>G | CA443906842 | NIPBL | c.6405A>G (p.Thr2135=) c.1-19074A>G (n.1-19074A>G) c.5661A>G (p.Thr1887=) c.6207A>G (p.Thr2069=) c.6024A>G (p.Thr2008=) c.5745A>G (p.Thr1915=) c.4788A>G (p.Thr1596=) c.4779A>G (p.Thr1593=) | |
| 5 | g.37045504A>T | CA443906838 | NIPBL | c.6405A>T (p.Thr2135=) c.1-19074A>T (n.1-19074A>T) c.5661A>T (p.Thr1887=) c.6207A>T (p.Thr2069=) c.6024A>T (p.Thr2008=) c.5745A>T (p.Thr1915=) c.4788A>T (p.Thr1596=) c.4779A>T (p.Thr1593=) | |
| 5 | g.37045506dup | CA2695204416 | NIPBL | c.6407dup (p.Asn2136LysfsTer7) c.1-19072dup (n.1-19072dup) c.5663dup (p.Asn1888LysfsTer7) c.6209dup (p.Asn2070LysfsTer7) c.6026dup (p.Asn2009LysfsTer7) c.5747dup (p.Asn1916LysfsTer7) c.4790dup (p.Asn1597LysfsTer7) c.4781dup (p.Asn1594LysfsTer7) | |
| 5 | g.37045505A>C | CA359504355 | NIPBL | c.6406A>C (p.Asn2136His) c.1-19073A>C (n.1-19073A>C) c.5662A>C (p.Asn1888His) c.6208A>C (p.Asn2070His) c.6025A>C (p.Asn2009His) c.5746A>C (p.Asn1916His) c.4789A>C (p.Asn1597His) c.4780A>C (p.Asn1594His) | |
| 5 | g.37045505A>G | CA359504357 | NIPBL | c.6406A>G (p.Asn2136Asp) c.1-19073A>G (n.1-19073A>G) c.5662A>G (p.Asn1888Asp) c.6208A>G (p.Asn2070Asp) c.6025A>G (p.Asn2009Asp) c.5746A>G (p.Asn1916Asp) c.4789A>G (p.Asn1597Asp) c.4780A>G (p.Asn1594Asp) | |
| 5 | g.37045505A>T | CA359504359 | NIPBL | c.6406A>T (p.Asn2136Tyr) c.1-19073A>T (n.1-19073A>T) c.5662A>T (p.Asn1888Tyr) c.6208A>T (p.Asn2070Tyr) c.6025A>T (p.Asn2009Tyr) c.5746A>T (p.Asn1916Tyr) c.4789A>T (p.Asn1597Tyr) c.4780A>T (p.Asn1594Tyr) | |
| 5 | g.37045506A>C | CA359504367 | NIPBL | c.6407A>C (p.Asn2136Thr) c.1-19072A>C (n.1-19072A>C) c.5663A>C (p.Asn1888Thr) c.6209A>C (p.Asn2070Thr) c.6026A>C (p.Asn2009Thr) c.5747A>C (p.Asn1916Thr) c.4790A>C (p.Asn1597Thr) c.4781A>C (p.Asn1594Thr) | |
| 5 | g.37045506A>G | CA359504362 | NIPBL | c.6407A>G (p.Asn2136Ser) c.1-19072A>G (n.1-19072A>G) c.5663A>G (p.Asn1888Ser) c.6209A>G (p.Asn2070Ser) c.6026A>G (p.Asn2009Ser) c.5747A>G (p.Asn1916Ser) c.4790A>G (p.Asn1597Ser) c.4781A>G (p.Asn1594Ser) | |
| 5 | g.37045506A>T | CA359504365 | NIPBL | c.6407A>T (p.Asn2136Ile) c.1-19072A>T (n.1-19072A>T) c.5663A>T (p.Asn1888Ile) c.6209A>T (p.Asn2070Ile) c.6026A>T (p.Asn2009Ile) c.5747A>T (p.Asn1916Ile) c.4790A>T (p.Asn1597Ile) c.4781A>T (p.Asn1594Ile) | |
| 5 | g.37045507C>A | CA359504369 | NIPBL | c.6408C>A (p.Asn2136Lys) c.1-19071C>A (n.1-19071C>A) c.5664C>A (p.Asn1888Lys) c.6210C>A (p.Asn2070Lys) c.6027C>A (p.Asn2009Lys) c.5748C>A (p.Asn1916Lys) c.4791C>A (p.Asn1597Lys) c.4782C>A (p.Asn1594Lys) | |
| 5 | g.37045507C>G | CA359504373 | NIPBL | c.6408C>G (p.Asn2136Lys) c.1-19071C>G (n.1-19071C>G) c.5664C>G (p.Asn1888Lys) c.6210C>G (p.Asn2070Lys) c.6027C>G (p.Asn2009Lys) c.5748C>G (p.Asn1916Lys) c.4791C>G (p.Asn1597Lys) c.4782C>G (p.Asn1594Lys) | |
| 5 | g.37045507C>T | CA443906853 | NIPBL | c.6408C>T (p.Asn2136=) c.1-19071C>T (n.1-19071C>T) c.5664C>T (p.Asn1888=) c.6210C>T (p.Asn2070=) c.6027C>T (p.Asn2009=) c.5748C>T (p.Asn1916=) c.4791C>T (p.Asn1597=) c.4782C>T (p.Asn1594=) | gnomAD v4 |
| 5 | g.37045508A>C | CA359504375 | NIPBL | c.6409A>C (p.Lys2137Gln) c.1-19070A>C (n.1-19070A>C) c.5665A>C (p.Lys1889Gln) c.6211A>C (p.Lys2071Gln) c.6028A>C (p.Lys2010Gln) c.5749A>C (p.Lys1917Gln) c.4792A>C (p.Lys1598Gln) c.4783A>C (p.Lys1595Gln) | |
| 5 | g.37045508A>G | CA359504379 | NIPBL | c.6409A>G (p.Lys2137Glu) c.1-19070A>G (n.1-19070A>G) c.5665A>G (p.Lys1889Glu) c.6211A>G (p.Lys2071Glu) c.6028A>G (p.Lys2010Glu) c.5749A>G (p.Lys1917Glu) c.4792A>G (p.Lys1598Glu) c.4783A>G (p.Lys1595Glu) | |
| 5 | g.37045508A>T | CA359504381 | NIPBL | c.6409A>T (p.Lys2137Ter) c.1-19070A>T (n.1-19070A>T) c.5665A>T (p.Lys1889Ter) c.6211A>T (p.Lys2071Ter) c.6028A>T (p.Lys2010Ter) c.5749A>T (p.Lys1917Ter) c.4792A>T (p.Lys1598Ter) c.4783A>T (p.Lys1595Ter) | |
| 5 | g.37045509A>C | CA359504383 | NIPBL | c.6410A>C (p.Lys2137Thr) c.1-19069A>C (n.1-19069A>C) c.5666A>C (p.Lys1889Thr) c.6212A>C (p.Lys2071Thr) c.6029A>C (p.Lys2010Thr) c.5750A>C (p.Lys1917Thr) c.4793A>C (p.Lys1598Thr) c.4784A>C (p.Lys1595Thr) | |
| 5 | g.37045509A>G | CA359504386 | NIPBL | c.6410A>G (p.Lys2137Arg) c.1-19069A>G (n.1-19069A>G) c.5666A>G (p.Lys1889Arg) c.6212A>G (p.Lys2071Arg) c.6029A>G (p.Lys2010Arg) c.5750A>G (p.Lys1917Arg) c.4793A>G (p.Lys1598Arg) c.4784A>G (p.Lys1595Arg) | |
| 5 | g.37045509A>T | CA359504390 | NIPBL | c.6410A>T (p.Lys2137Ile) c.1-19069A>T (n.1-19069A>T) c.5666A>T (p.Lys1889Ile) c.6212A>T (p.Lys2071Ile) c.6029A>T (p.Lys2010Ile) c.5750A>T (p.Lys1917Ile) c.4793A>T (p.Lys1598Ile) c.4784A>T (p.Lys1595Ile) | |
| 5 | g.37045510A>C | CA359504392 | NIPBL | c.6411A>C (p.Lys2137Asn) c.1-19068A>C (n.1-19068A>C) c.5667A>C (p.Lys1889Asn) c.6213A>C (p.Lys2071Asn) c.6030A>C (p.Lys2010Asn) c.5751A>C (p.Lys1917Asn) c.4794A>C (p.Lys1598Asn) c.4785A>C (p.Lys1595Asn) | |
| 5 | g.37045510A>G | CA443906869 | NIPBL | c.6411A>G (p.Lys2137=) c.1-19068A>G (n.1-19068A>G) c.5667A>G (p.Lys1889=) c.6213A>G (p.Lys2071=) c.6030A>G (p.Lys2010=) c.5751A>G (p.Lys1917=) c.4794A>G (p.Lys1598=) c.4785A>G (p.Lys1595=) | |
| 5 | g.37045510A>T | CA359504394 | NIPBL | c.6411A>T (p.Lys2137Asn) c.1-19068A>T (n.1-19068A>T) c.5667A>T (p.Lys1889Asn) c.6213A>T (p.Lys2071Asn) c.6030A>T (p.Lys2010Asn) c.5751A>T (p.Lys1917Asn) c.4794A>T (p.Lys1598Asn) c.4785A>T (p.Lys1595Asn) | |
| 5 | g.37045511C>A | CA359504399 | NIPBL | c.6412C>A (p.Pro2138Thr) c.1-19067C>A (n.1-19067C>A) c.5668C>A (p.Pro1890Thr) c.6214C>A (p.Pro2072Thr) c.6031C>A (p.Pro2011Thr) c.5752C>A (p.Pro1918Thr) c.4795C>A (p.Pro1599Thr) c.4786C>A (p.Pro1596Thr) | |
| 5 | g.37045511C>G | CA359504400 | NIPBL | c.6412C>G (p.Pro2138Ala) c.1-19067C>G (n.1-19067C>G) c.5668C>G (p.Pro1890Ala) c.6214C>G (p.Pro2072Ala) c.6031C>G (p.Pro2011Ala) c.5752C>G (p.Pro1918Ala) c.4795C>G (p.Pro1599Ala) c.4786C>G (p.Pro1596Ala) | |
| 5 | g.37045511C>T | CA359504397 | NIPBL | c.6412C>T (p.Pro2138Ser) c.1-19067C>T (n.1-19067C>T) c.5668C>T (p.Pro1890Ser) c.6214C>T (p.Pro2072Ser) c.6031C>T (p.Pro2011Ser) c.5752C>T (p.Pro1918Ser) c.4795C>T (p.Pro1599Ser) c.4786C>T (p.Pro1596Ser) | |
| 5 | g.37045512C>A | CA359504403 | NIPBL | c.6413C>A (p.Pro2138Gln) c.1-19066C>A (n.1-19066C>A) c.5669C>A (p.Pro1890Gln) c.6215C>A (p.Pro2072Gln) c.6032C>A (p.Pro2011Gln) c.5753C>A (p.Pro1918Gln) c.4796C>A (p.Pro1599Gln) c.4787C>A (p.Pro1596Gln) | |
| 5 | g.37045512C>G | CA359504413 | NIPBL | c.6413C>G (p.Pro2138Arg) c.1-19066C>G (n.1-19066C>G) c.5669C>G (p.Pro1890Arg) c.6215C>G (p.Pro2072Arg) c.6032C>G (p.Pro2011Arg) c.5753C>G (p.Pro1918Arg) c.4796C>G (p.Pro1599Arg) c.4787C>G (p.Pro1596Arg) | |
| 5 | g.37045512C>T | CA359504418 | NIPBL | c.6413C>T (p.Pro2138Leu) c.1-19066C>T (n.1-19066C>T) c.5669C>T (p.Pro1890Leu) c.6215C>T (p.Pro2072Leu) c.6032C>T (p.Pro2011Leu) c.5753C>T (p.Pro1918Leu) c.4796C>T (p.Pro1599Leu) c.4787C>T (p.Pro1596Leu) | |
| 5 | g.37045513A>C | CA443906883 | NIPBL | c.6414A>C (p.Pro2138=) c.1-19065A>C (n.1-19065A>C) c.5670A>C (p.Pro1890=) c.6216A>C (p.Pro2072=) c.6033A>C (p.Pro2011=) c.5754A>C (p.Pro1918=) c.4797A>C (p.Pro1599=) c.4788A>C (p.Pro1596=) | |
| 5 | g.37045513A>G | CA443906884 | NIPBL | c.6414A>G (p.Pro2138=) c.1-19065A>G (n.1-19065A>G) c.5670A>G (p.Pro1890=) c.6216A>G (p.Pro2072=) c.6033A>G (p.Pro2011=) c.5754A>G (p.Pro1918=) c.4797A>G (p.Pro1599=) c.4788A>G (p.Pro1596=) | |
| 5 | g.37045513A>T | CA443906887 | NIPBL | c.6414A>T (p.Pro2138=) c.1-19065A>T (n.1-19065A>T) c.5670A>T (p.Pro1890=) c.6216A>T (p.Pro2072=) c.6033A>T (p.Pro2011=) c.5754A>T (p.Pro1918=) c.4797A>T (p.Pro1599=) c.4788A>T (p.Pro1596=) | |
| 5 | g.37045514G>A | CA359504419 | NIPBL | c.6415G>A (p.Ala2139Thr) c.1-19064G>A (n.1-19064G>A) c.5671G>A (p.Ala1891Thr) c.6217G>A (p.Ala2073Thr) c.6034G>A (p.Ala2012Thr) c.5755G>A (p.Ala1919Thr) c.4798G>A (p.Ala1600Thr) c.4789G>A (p.Ala1597Thr) | |
| 5 | g.37045514G>C | CA359504421 | NIPBL | c.6415G>C (p.Ala2139Pro) c.1-19064G>C (n.1-19064G>C) c.5671G>C (p.Ala1891Pro) c.6217G>C (p.Ala2073Pro) c.6034G>C (p.Ala2012Pro) c.5755G>C (p.Ala1919Pro) c.4798G>C (p.Ala1600Pro) c.4789G>C (p.Ala1597Pro) | |
| 5 | g.37045514G>T | CA359504424 | NIPBL | c.6415G>T (p.Ala2139Ser) c.1-19064G>T (n.1-19064G>T) c.5671G>T (p.Ala1891Ser) c.6217G>T (p.Ala2073Ser) c.6034G>T (p.Ala2012Ser) c.5755G>T (p.Ala1919Ser) c.4798G>T (p.Ala1600Ser) c.4789G>T (p.Ala1597Ser) | |
| 5 | g.37045515C>A | CA359504427 | NIPBL | c.6416C>A (p.Ala2139Glu) c.1-19063C>A (n.1-19063C>A) c.5672C>A (p.Ala1891Glu) c.6218C>A (p.Ala2073Glu) c.6035C>A (p.Ala2012Glu) c.5756C>A (p.Ala1919Glu) c.4799C>A (p.Ala1600Glu) c.4790C>A (p.Ala1597Glu) | |
| 5 | g.37045515C>G | CA359504430 | NIPBL | c.6416C>G (p.Ala2139Gly) c.1-19063C>G (n.1-19063C>G) c.5672C>G (p.Ala1891Gly) c.6218C>G (p.Ala2073Gly) c.6035C>G (p.Ala2012Gly) c.5756C>G (p.Ala1919Gly) c.4799C>G (p.Ala1600Gly) c.4790C>G (p.Ala1597Gly) | |
| 5 | g.37045515C>T | CA359504443 | NIPBL | c.6416C>T (p.Ala2139Val) c.1-19063C>T (n.1-19063C>T) c.5672C>T (p.Ala1891Val) c.6218C>T (p.Ala2073Val) c.6035C>T (p.Ala2012Val) c.5756C>T (p.Ala1919Val) c.4799C>T (p.Ala1600Val) c.4790C>T (p.Ala1597Val) | |
| 5 | g.37045516A= | CA1539618528 | NIPBL | c.6417A= (p.Ala2139=) c.1-19062A= (n.1-19062A=) c.5673A= (p.Ala1891=) c.6219A= (p.Ala2073=) c.6036A= (p.Ala2012=) c.5757A= (p.Ala1919=) c.4800A= (p.Ala1600=) c.4791A= (p.Ala1597=) | |
| 5 | g.37045516A>C | CA443906900 | NIPBL | c.6417A>C (p.Ala2139=) c.1-19062A>C (n.1-19062A>C) c.5673A>C (p.Ala1891=) c.6219A>C (p.Ala2073=) c.6036A>C (p.Ala2012=) c.5757A>C (p.Ala1919=) c.4800A>C (p.Ala1600=) c.4791A>C (p.Ala1597=) | |
| 5 | g.37045516A>G | CA443906902 | NIPBL | c.6417A>G (p.Ala2139=) c.1-19062A>G (n.1-19062A>G) c.5673A>G (p.Ala1891=) c.6219A>G (p.Ala2073=) c.6036A>G (p.Ala2012=) c.5757A>G (p.Ala1919=) c.4800A>G (p.Ala1600=) c.4791A>G (p.Ala1597=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37045516A>T | CA443906904 | NIPBL | c.6417A>T (p.Ala2139=) c.1-19062A>T (n.1-19062A>T) c.5673A>T (p.Ala1891=) c.6219A>T (p.Ala2073=) c.6036A>T (p.Ala2012=) c.5757A>T (p.Ala1919=) c.4800A>T (p.Ala1600=) c.4791A>T (p.Ala1597=) | |
| 5 | g.37045517C>A | CA359504448 | NIPBL | c.6418C>A (p.Leu2140Ile) c.1-19061C>A (n.1-19061C>A) c.5674C>A (p.Leu1892Ile) c.6220C>A (p.Leu2074Ile) c.6037C>A (p.Leu2013Ile) c.5758C>A (p.Leu1920Ile) c.4801C>A (p.Leu1601Ile) c.4792C>A (p.Leu1598Ile) | |
| 5 | g.37045517C>G | CA359504449 | NIPBL | c.6418C>G (p.Leu2140Val) c.1-19061C>G (n.1-19061C>G) c.5674C>G (p.Leu1892Val) c.6220C>G (p.Leu2074Val) c.6037C>G (p.Leu2013Val) c.5758C>G (p.Leu1920Val) c.4801C>G (p.Leu1601Val) c.4792C>G (p.Leu1598Val) | |
| 5 | g.37045517C>T | CA359504452 | NIPBL | c.6418C>T (p.Leu2140Phe) c.1-19061C>T (n.1-19061C>T) c.5674C>T (p.Leu1892Phe) c.6220C>T (p.Leu2074Phe) c.6037C>T (p.Leu2013Phe) c.5758C>T (p.Leu1920Phe) c.4801C>T (p.Leu1601Phe) c.4792C>T (p.Leu1598Phe) | |
| 5 | g.37045518T>A | CA359504461 | NIPBL | c.6419T>A (p.Leu2140His) c.1-19060T>A (n.1-19060T>A) c.5675T>A (p.Leu1892His) c.6221T>A (p.Leu2074His) c.6038T>A (p.Leu2013His) c.5759T>A (p.Leu1920His) c.4802T>A (p.Leu1601His) c.4793T>A (p.Leu1598His) | |
| 5 | g.37045518T>C | CA359504456 | NIPBL | c.6419T>C (p.Leu2140Pro) c.1-19060T>C (n.1-19060T>C) c.5675T>C (p.Leu1892Pro) c.6221T>C (p.Leu2074Pro) c.6038T>C (p.Leu2013Pro) c.5759T>C (p.Leu1920Pro) c.4802T>C (p.Leu1601Pro) c.4793T>C (p.Leu1598Pro) | |
| 5 | g.37045518T>G | CA359504460 | NIPBL | c.6419T>G (p.Leu2140Arg) c.1-19060T>G (n.1-19060T>G) c.5675T>G (p.Leu1892Arg) c.6221T>G (p.Leu2074Arg) c.6038T>G (p.Leu2013Arg) c.5759T>G (p.Leu1920Arg) c.4802T>G (p.Leu1601Arg) c.4793T>G (p.Leu1598Arg) | |
| 5 | g.37045519T>A | CA443906916 | NIPBL | c.6420T>A (p.Leu2140=) c.1-19059T>A (n.1-19059T>A) c.5676T>A (p.Leu1892=) c.6222T>A (p.Leu2074=) c.6039T>A (p.Leu2013=) c.5760T>A (p.Leu1920=) c.4803T>A (p.Leu1601=) c.4794T>A (p.Leu1598=) | |
| 5 | g.37045519T>C | CA443906918 | NIPBL | c.6420T>C (p.Leu2140=) c.1-19059T>C (n.1-19059T>C) c.5676T>C (p.Leu1892=) c.6222T>C (p.Leu2074=) c.6039T>C (p.Leu2013=) c.5760T>C (p.Leu1920=) c.4803T>C (p.Leu1601=) c.4794T>C (p.Leu1598=) |