| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37051871T>A | CA359510799 | NIPBL | c.7047T>A (p.Tyr2349Ter) n.929T>A c.1-12707T>A (n.1-12707T>A) c.6303T>A (p.Tyr2101Ter) c.6849T>A (p.Tyr2283Ter) c.6666T>A (p.Tyr2222Ter) c.6387T>A (p.Tyr2129Ter) c.5430T>A (p.Tyr1810Ter) c.5421T>A (p.Tyr1807Ter) | |
| 5 | g.37051871T>C | CA3237118 | NIPBL | c.7047T>C (p.Tyr2349=) n.929T>C c.1-12707T>C (n.1-12707T>C) c.6303T>C (p.Tyr2101=) c.6849T>C (p.Tyr2283=) c.6666T>C (p.Tyr2222=) c.6387T>C (p.Tyr2129=) c.5430T>C (p.Tyr1810=) c.5421T>C (p.Tyr1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051871T>G | CA267219 | NIPBL | c.7047T>G (p.Tyr2349Ter) n.929T>G c.1-12707T>G (n.1-12707T>G) c.6303T>G (p.Tyr2101Ter) c.6849T>G (p.Tyr2283Ter) c.6666T>G (p.Tyr2222Ter) c.6387T>G (p.Tyr2129Ter) c.5430T>G (p.Tyr1810Ter) c.5421T>G (p.Tyr1807Ter) | ClinVar dbSNP |
| 5 | g.37051871T= | CA1539571478 | NIPBL | c.7047T= (p.Tyr2349=) n.929T= c.1-12707T= (n.1-12707T=) c.6303T= (p.Tyr2101=) c.6849T= (p.Tyr2283=) c.6666T= (p.Tyr2222=) c.6387T= (p.Tyr2129=) c.5430T= (p.Tyr1810=) c.5421T= (p.Tyr1807=) | |
| 5 | g.37051872G>A | CA359510803 | NIPBL | c.7048G>A (p.Ala2350Thr) n.930G>A c.1-12706G>A (n.1-12706G>A) c.6304G>A (p.Ala2102Thr) c.6850G>A (p.Ala2284Thr) c.6667G>A (p.Ala2223Thr) c.6388G>A (p.Ala2130Thr) c.5431G>A (p.Ala1811Thr) c.5422G>A (p.Ala1808Thr) | |
| 5 | g.37051872G>C | CA359510806 | NIPBL | c.7048G>C (p.Ala2350Pro) n.930G>C c.1-12706G>C (n.1-12706G>C) c.6304G>C (p.Ala2102Pro) c.6850G>C (p.Ala2284Pro) c.6667G>C (p.Ala2223Pro) c.6388G>C (p.Ala2130Pro) c.5431G>C (p.Ala1811Pro) c.5422G>C (p.Ala1808Pro) | |
| 5 | g.37051872G>T | CA359510808 | NIPBL | c.7048G>T (p.Ala2350Ser) n.930G>T c.1-12706G>T (n.1-12706G>T) c.6304G>T (p.Ala2102Ser) c.6850G>T (p.Ala2284Ser) c.6667G>T (p.Ala2223Ser) c.6388G>T (p.Ala2130Ser) c.5431G>T (p.Ala1811Ser) c.5422G>T (p.Ala1808Ser) | |
| 5 | g.37051873C>A | CA359510815 | NIPBL | c.7049C>A (p.Ala2350Asp) n.931C>A c.1-12705C>A (n.1-12705C>A) c.6305C>A (p.Ala2102Asp) c.6851C>A (p.Ala2284Asp) c.6668C>A (p.Ala2223Asp) c.6389C>A (p.Ala2130Asp) c.5432C>A (p.Ala1811Asp) c.5423C>A (p.Ala1808Asp) | gnomAD v4 |
| 5 | g.37051873C= | CA1539571486 | NIPBL | c.7049C= (p.Ala2350=) n.931C= c.1-12705C= (n.1-12705C=) c.6305C= (p.Ala2102=) c.6851C= (p.Ala2284=) c.6668C= (p.Ala2223=) c.6389C= (p.Ala2130=) c.5432C= (p.Ala1811=) c.5423C= (p.Ala1808=) | |
| 5 | g.37051873C>G | CA117051082 | NIPBL | c.7049C>G (p.Ala2350Gly) n.931C>G c.1-12705C>G (n.1-12705C>G) c.6305C>G (p.Ala2102Gly) c.6851C>G (p.Ala2284Gly) c.6668C>G (p.Ala2223Gly) c.6389C>G (p.Ala2130Gly) c.5432C>G (p.Ala1811Gly) c.5423C>G (p.Ala1808Gly) | dbSNP gnomAD v4 |
| 5 | g.37051873C>T | CA359510811 | NIPBL | c.7049C>T (p.Ala2350Val) n.931C>T c.1-12705C>T (n.1-12705C>T) c.6305C>T (p.Ala2102Val) c.6851C>T (p.Ala2284Val) c.6668C>T (p.Ala2223Val) c.6389C>T (p.Ala2130Val) c.5432C>T (p.Ala1811Val) c.5423C>T (p.Ala1808Val) | |
| 5 | g.37051874T>A | CA443910231 | NIPBL | c.7050T>A (p.Ala2350=) n.932T>A c.1-12704T>A (n.1-12704T>A) c.6306T>A (p.Ala2102=) c.6852T>A (p.Ala2284=) c.6669T>A (p.Ala2223=) c.6390T>A (p.Ala2130=) c.5433T>A (p.Ala1811=) c.5424T>A (p.Ala1808=) | |
| 5 | g.37051874T>C | CA443910233 | NIPBL | c.7050T>C (p.Ala2350=) n.932T>C c.1-12704T>C (n.1-12704T>C) c.6306T>C (p.Ala2102=) c.6852T>C (p.Ala2284=) c.6669T>C (p.Ala2223=) c.6390T>C (p.Ala2130=) c.5433T>C (p.Ala1811=) c.5424T>C (p.Ala1808=) | |
| 5 | g.37051874T>G | CA443910235 | NIPBL | c.7050T>G (p.Ala2350=) n.932T>G c.1-12704T>G (n.1-12704T>G) c.6306T>G (p.Ala2102=) c.6852T>G (p.Ala2284=) c.6669T>G (p.Ala2223=) c.6390T>G (p.Ala2130=) c.5433T>G (p.Ala1811=) c.5424T>G (p.Ala1808=) | |
| 5 | g.37051874_37051876del | CA2740097839 | NIPBL | c.7050_7052del (p.Gly2351del) n.932_934del c.1-12704_1-12702del (n.1-12704_1-12702del) c.6306_6308del (p.Gly2103del) c.6852_6854del (p.Gly2285del) c.6669_6671del (p.Gly2224del) c.6390_6392del (p.Gly2131del) c.5433_5435del (p.Gly1812del) c.5424_5426del (p.Gly1809del) | |
| 5 | g.37051875G>A | CA359510822 | NIPBL | c.7051G>A (p.Gly2351Arg) n.933G>A c.1-12703G>A (n.1-12703G>A) c.6307G>A (p.Gly2103Arg) c.6853G>A (p.Gly2285Arg) c.6670G>A (p.Gly2224Arg) c.6391G>A (p.Gly2131Arg) c.5434G>A (p.Gly1812Arg) c.5425G>A (p.Gly1809Arg) | COSMIC COSMIC |
| 5 | g.37051875G>C | CA359510818 | NIPBL | c.7051G>C (p.Gly2351Arg) n.933G>C c.1-12703G>C (n.1-12703G>C) c.6307G>C (p.Gly2103Arg) c.6853G>C (p.Gly2285Arg) c.6670G>C (p.Gly2224Arg) c.6391G>C (p.Gly2131Arg) c.5434G>C (p.Gly1812Arg) c.5425G>C (p.Gly1809Arg) | |
| 5 | g.37051875G>T | CA359510819 | NIPBL | c.7051G>T (p.Gly2351Ter) n.933G>T c.1-12703G>T (n.1-12703G>T) c.6307G>T (p.Gly2103Ter) c.6853G>T (p.Gly2285Ter) c.6670G>T (p.Gly2224Ter) c.6391G>T (p.Gly2131Ter) c.5434G>T (p.Gly1812Ter) c.5425G>T (p.Gly1809Ter) | |
| 5 | g.37051876G>A | CA359510824 | NIPBL | c.7052G>A (p.Gly2351Glu) n.934G>A c.1-12702G>A (n.1-12702G>A) c.6308G>A (p.Gly2103Glu) c.6854G>A (p.Gly2285Glu) c.6671G>A (p.Gly2224Glu) c.6392G>A (p.Gly2131Glu) c.5435G>A (p.Gly1812Glu) c.5426G>A (p.Gly1809Glu) | |
| 5 | g.37051876G>C | CA359510827 | NIPBL | c.7052G>C (p.Gly2351Ala) n.934G>C c.1-12702G>C (n.1-12702G>C) c.6308G>C (p.Gly2103Ala) c.6854G>C (p.Gly2285Ala) c.6671G>C (p.Gly2224Ala) c.6392G>C (p.Gly2131Ala) c.5435G>C (p.Gly1812Ala) c.5426G>C (p.Gly1809Ala) | |
| 5 | g.37051876G>T | CA359510829 | NIPBL | c.7052G>T (p.Gly2351Val) n.934G>T c.1-12702G>T (n.1-12702G>T) c.6308G>T (p.Gly2103Val) c.6854G>T (p.Gly2285Val) c.6671G>T (p.Gly2224Val) c.6392G>T (p.Gly2131Val) c.5435G>T (p.Gly1812Val) c.5426G>T (p.Gly1809Val) | |
| 5 | g.37051877A= | CA1539571489 | NIPBL | c.7053A= (p.Gly2351=) n.935A= c.1-12701A= (n.1-12701A=) c.6309A= (p.Gly2103=) c.6855A= (p.Gly2285=) c.6672A= (p.Gly2224=) c.6393A= (p.Gly2131=) c.5436A= (p.Gly1812=) c.5427A= (p.Gly1809=) | |
| 5 | g.37051877A>C | CA443910246 | NIPBL | c.7053A>C (p.Gly2351=) n.935A>C c.1-12701A>C (n.1-12701A>C) c.6309A>C (p.Gly2103=) c.6855A>C (p.Gly2285=) c.6672A>C (p.Gly2224=) c.6393A>C (p.Gly2131=) c.5436A>C (p.Gly1812=) c.5427A>C (p.Gly1809=) | |
| 5 | g.37051877A>G | CA443910248 | NIPBL | c.7053A>G (p.Gly2351=) n.935A>G c.1-12701A>G (n.1-12701A>G) c.6309A>G (p.Gly2103=) c.6855A>G (p.Gly2285=) c.6672A>G (p.Gly2224=) c.6393A>G (p.Gly2131=) c.5436A>G (p.Gly1812=) c.5427A>G (p.Gly1809=) | dbSNP gnomAD v4 |
| 5 | g.37051877A>T | CA443910250 | NIPBL | c.7053A>T (p.Gly2351=) n.935A>T c.1-12701A>T (n.1-12701A>T) c.6309A>T (p.Gly2103=) c.6855A>T (p.Gly2285=) c.6672A>T (p.Gly2224=) c.6393A>T (p.Gly2131=) c.5436A>T (p.Gly1812=) c.5427A>T (p.Gly1809=) | |
| 5 | g.37051878T>A | CA359510832 | NIPBL | c.7054T>A (p.Phe2352Ile) n.936T>A c.1-12700T>A (n.1-12700T>A) c.6310T>A (p.Phe2104Ile) c.6856T>A (p.Phe2286Ile) c.6673T>A (p.Phe2225Ile) c.6394T>A (p.Phe2132Ile) c.5437T>A (p.Phe1813Ile) c.5428T>A (p.Phe1810Ile) | |
| 5 | g.37051878T>C | CA359510835 | NIPBL | c.7054T>C (p.Phe2352Leu) n.936T>C c.1-12700T>C (n.1-12700T>C) c.6310T>C (p.Phe2104Leu) c.6856T>C (p.Phe2286Leu) c.6673T>C (p.Phe2225Leu) c.6394T>C (p.Phe2132Leu) c.5437T>C (p.Phe1813Leu) c.5428T>C (p.Phe1810Leu) | |
| 5 | g.37051878T>G | CA359510837 | NIPBL | c.7054T>G (p.Phe2352Val) n.936T>G c.1-12700T>G (n.1-12700T>G) c.6310T>G (p.Phe2104Val) c.6856T>G (p.Phe2286Val) c.6673T>G (p.Phe2225Val) c.6394T>G (p.Phe2132Val) c.5437T>G (p.Phe1813Val) c.5428T>G (p.Phe1810Val) | |
| 5 | g.37051879T>A | CA359510838 | NIPBL | c.7055T>A (p.Phe2352Tyr) n.937T>A c.1-12699T>A (n.1-12699T>A) c.6311T>A (p.Phe2104Tyr) c.6857T>A (p.Phe2286Tyr) c.6674T>A (p.Phe2225Tyr) c.6395T>A (p.Phe2132Tyr) c.5438T>A (p.Phe1813Tyr) c.5429T>A (p.Phe1810Tyr) | |
| 5 | g.37051879T>C | CA359510839 | NIPBL | c.7055T>C (p.Phe2352Ser) n.937T>C c.1-12699T>C (n.1-12699T>C) c.6311T>C (p.Phe2104Ser) c.6857T>C (p.Phe2286Ser) c.6674T>C (p.Phe2225Ser) c.6395T>C (p.Phe2132Ser) c.5438T>C (p.Phe1813Ser) c.5429T>C (p.Phe1810Ser) | |
| 5 | g.37051879T>G | CA359510840 | NIPBL | c.7055T>G (p.Phe2352Cys) n.937T>G c.1-12699T>G (n.1-12699T>G) c.6311T>G (p.Phe2104Cys) c.6857T>G (p.Phe2286Cys) c.6674T>G (p.Phe2225Cys) c.6395T>G (p.Phe2132Cys) c.5438T>G (p.Phe1813Cys) c.5429T>G (p.Phe1810Cys) | |
| 5 | g.37051880C>A | CA359510841 | NIPBL | c.7056C>A (p.Phe2352Leu) n.938C>A c.1-12698C>A (n.1-12698C>A) c.6312C>A (p.Phe2104Leu) c.6858C>A (p.Phe2286Leu) c.6675C>A (p.Phe2225Leu) c.6396C>A (p.Phe2132Leu) c.5439C>A (p.Phe1813Leu) c.5430C>A (p.Phe1810Leu) | |
| 5 | g.37051880C>G | CA359510842 | NIPBL | c.7056C>G (p.Phe2352Leu) n.938C>G c.1-12698C>G (n.1-12698C>G) c.6312C>G (p.Phe2104Leu) c.6858C>G (p.Phe2286Leu) c.6675C>G (p.Phe2225Leu) c.6396C>G (p.Phe2132Leu) c.5439C>G (p.Phe1813Leu) c.5430C>G (p.Phe1810Leu) | |
| 5 | g.37051880C>T | CA443910263 | NIPBL | c.7056C>T (p.Phe2352=) n.938C>T c.1-12698C>T (n.1-12698C>T) c.6312C>T (p.Phe2104=) c.6858C>T (p.Phe2286=) c.6675C>T (p.Phe2225=) c.6396C>T (p.Phe2132=) c.5439C>T (p.Phe1813=) c.5430C>T (p.Phe1810=) | COSMIC COSMIC |
| 5 | g.37051881A= | CA1539571492 | NIPBL | c.7057A= (p.Ile2353=) n.939A= c.1-12697A= (n.1-12697A=) c.6313A= (p.Ile2105=) c.6859A= (p.Ile2287=) c.6676A= (p.Ile2226=) c.6397A= (p.Ile2133=) c.5440A= (p.Ile1814=) c.5431A= (p.Ile1811=) | |
| 5 | g.37051881A>C | CA359510845 | NIPBL | c.7057A>C (p.Ile2353Leu) n.939A>C c.1-12697A>C (n.1-12697A>C) c.6313A>C (p.Ile2105Leu) c.6859A>C (p.Ile2287Leu) c.6676A>C (p.Ile2226Leu) c.6397A>C (p.Ile2133Leu) c.5440A>C (p.Ile1814Leu) c.5431A>C (p.Ile1811Leu) | |
| 5 | g.37051881A>G | CA3237119 | NIPBL | c.7057A>G (p.Ile2353Val) n.939A>G c.1-12697A>G (n.1-12697A>G) c.6313A>G (p.Ile2105Val) c.6859A>G (p.Ile2287Val) c.6676A>G (p.Ile2226Val) c.6397A>G (p.Ile2133Val) c.5440A>G (p.Ile1814Val) c.5431A>G (p.Ile1811Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051881A>T | CA359510844 | NIPBL | c.7057A>T (p.Ile2353Phe) n.939A>T c.1-12697A>T (n.1-12697A>T) c.6313A>T (p.Ile2105Phe) c.6859A>T (p.Ile2287Phe) c.6676A>T (p.Ile2226Phe) c.6397A>T (p.Ile2133Phe) c.5440A>T (p.Ile1814Phe) c.5431A>T (p.Ile1811Phe) | |
| 5 | g.37051882T>A | CA359510847 | NIPBL | c.7058T>A (p.Ile2353Asn) n.940T>A c.1-12696T>A (n.1-12696T>A) c.6314T>A (p.Ile2105Asn) c.6860T>A (p.Ile2287Asn) c.6677T>A (p.Ile2226Asn) c.6398T>A (p.Ile2133Asn) c.5441T>A (p.Ile1814Asn) c.5432T>A (p.Ile1811Asn) | |
| 5 | g.37051882T>C | CA359510849 | NIPBL | c.7058T>C (p.Ile2353Thr) n.940T>C c.1-12696T>C (n.1-12696T>C) c.6314T>C (p.Ile2105Thr) c.6860T>C (p.Ile2287Thr) c.6677T>C (p.Ile2226Thr) c.6398T>C (p.Ile2133Thr) c.5441T>C (p.Ile1814Thr) c.5432T>C (p.Ile1811Thr) | |
| 5 | g.37051882T>G | CA359510851 | NIPBL | c.7058T>G (p.Ile2353Ser) n.940T>G c.1-12696T>G (n.1-12696T>G) c.6314T>G (p.Ile2105Ser) c.6860T>G (p.Ile2287Ser) c.6677T>G (p.Ile2226Ser) c.6398T>G (p.Ile2133Ser) c.5441T>G (p.Ile1814Ser) c.5432T>G (p.Ile1811Ser) | |
| 5 | g.37051883T>A | CA443910278 | NIPBL | c.7059T>A (p.Ile2353=) n.941T>A c.1-12695T>A (n.1-12695T>A) c.6315T>A (p.Ile2105=) c.6861T>A (p.Ile2287=) c.6678T>A (p.Ile2226=) c.6399T>A (p.Ile2133=) c.5442T>A (p.Ile1814=) c.5433T>A (p.Ile1811=) | |
| 5 | g.37051883T>C | CA443910280 | NIPBL | c.7059T>C (p.Ile2353=) n.941T>C c.1-12695T>C (n.1-12695T>C) c.6315T>C (p.Ile2105=) c.6861T>C (p.Ile2287=) c.6678T>C (p.Ile2226=) c.6399T>C (p.Ile2133=) c.5442T>C (p.Ile1814=) c.5433T>C (p.Ile1811=) | |
| 5 | g.37051883T>G | CA359510852 | NIPBL | c.7059T>G (p.Ile2353Met) n.941T>G c.1-12695T>G (n.1-12695T>G) c.6315T>G (p.Ile2105Met) c.6861T>G (p.Ile2287Met) c.6678T>G (p.Ile2226Met) c.6399T>G (p.Ile2133Met) c.5442T>G (p.Ile1814Met) c.5433T>G (p.Ile1811Met) | |
| 5 | g.37051884C>A | CA359510855 | NIPBL | c.7060C>A (p.His2354Asn) n.942C>A c.1-12694C>A (n.1-12694C>A) c.6316C>A (p.His2106Asn) c.6862C>A (p.His2288Asn) c.6679C>A (p.His2227Asn) c.6400C>A (p.His2134Asn) c.5443C>A (p.His1815Asn) c.5434C>A (p.His1812Asn) | gnomAD v4 |
| 5 | g.37051884C>G | CA359510857 | NIPBL | c.7060C>G (p.His2354Asp) n.942C>G c.1-12694C>G (n.1-12694C>G) c.6316C>G (p.His2106Asp) c.6862C>G (p.His2288Asp) c.6679C>G (p.His2227Asp) c.6400C>G (p.His2134Asp) c.5443C>G (p.His1815Asp) c.5434C>G (p.His1812Asp) | |
| 5 | g.37051884C>T | CA359510860 | NIPBL | c.7060C>T (p.His2354Tyr) n.942C>T c.1-12694C>T (n.1-12694C>T) c.6316C>T (p.His2106Tyr) c.6862C>T (p.His2288Tyr) c.6679C>T (p.His2227Tyr) c.6400C>T (p.His2134Tyr) c.5443C>T (p.His1815Tyr) c.5434C>T (p.His1812Tyr) | |
| 5 | g.37051885A>C | CA359510863 | NIPBL | c.7061A>C (p.His2354Pro) n.943A>C c.1-12693A>C (n.1-12693A>C) c.6317A>C (p.His2106Pro) c.6863A>C (p.His2288Pro) c.6680A>C (p.His2227Pro) c.6401A>C (p.His2134Pro) c.5444A>C (p.His1815Pro) c.5435A>C (p.His1812Pro) | |
| 5 | g.37051885A>G | CA359510865 | NIPBL | c.7061A>G (p.His2354Arg) n.943A>G c.1-12693A>G (n.1-12693A>G) c.6317A>G (p.His2106Arg) c.6863A>G (p.His2288Arg) c.6680A>G (p.His2227Arg) c.6401A>G (p.His2134Arg) c.5444A>G (p.His1815Arg) c.5435A>G (p.His1812Arg) | |
| 5 | g.37051885A>T | CA359510867 | NIPBL | c.7061A>T (p.His2354Leu) n.943A>T c.1-12693A>T (n.1-12693A>T) c.6317A>T (p.His2106Leu) c.6863A>T (p.His2288Leu) c.6680A>T (p.His2227Leu) c.6401A>T (p.His2134Leu) c.5444A>T (p.His1815Leu) c.5435A>T (p.His1812Leu) |