| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132967797G>A | CA210710 | TG | c.5690G>A (p.Cys1897Tyr) c.85G>A c.1056G>A c.152G>A (p.Cys51Tyr) c.2345G>A c.5498G>A (p.Cys1833Tyr) c.5624G>A (p.Cys1875Tyr) c.5519G>A (p.Cys1840Tyr) c.5471G>A (p.Cys1824Tyr) c.5429G>A (p.Cys1810Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132967797G>C | CA372233977 | TG | c.5690G>C (p.Cys1897Ser) c.85G>C c.1056G>C c.152G>C (p.Cys51Ser) c.2345G>C c.5498G>C (p.Cys1833Ser) c.5624G>C (p.Cys1875Ser) c.5519G>C (p.Cys1840Ser) c.5471G>C (p.Cys1824Ser) c.5429G>C (p.Cys1810Ser) | |
| 8 | g.132967797G= | CA1821000844 | TG | c.5690G= (p.Cys1897=) c.85G= c.1056G= c.152G= (p.Cys51=) c.2345G= c.5498G= (p.Cys1833=) c.5624G= (p.Cys1875=) c.5519G= (p.Cys1840=) c.5471G= (p.Cys1824=) c.5429G= (p.Cys1810=) | |
| 8 | g.132967797G>T | CA372233979 | TG | c.5690G>T (p.Cys1897Phe) c.85G>T c.1056G>T c.152G>T (p.Cys51Phe) c.2345G>T c.5498G>T (p.Cys1833Phe) c.5624G>T (p.Cys1875Phe) c.5519G>T (p.Cys1840Phe) c.5471G>T (p.Cys1824Phe) c.5429G>T (p.Cys1810Phe) | |
| 8 | g.132967798T>A | CA372233981 | TG | c.5691T>A (p.Cys1897Ter) c.86T>A c.1057T>A c.153T>A (p.Cys51Ter) c.2346T>A c.5499T>A (p.Cys1833Ter) c.5625T>A (p.Cys1875Ter) c.5520T>A (p.Cys1840Ter) c.5472T>A (p.Cys1824Ter) c.5430T>A (p.Cys1810Ter) | |
| 8 | g.132967798T>C | CA463012482 | TG | c.5691T>C (p.Cys1897=) c.86T>C c.1057T>C c.153T>C (p.Cys51=) c.2346T>C c.5499T>C (p.Cys1833=) c.5625T>C (p.Cys1875=) c.5520T>C (p.Cys1840=) c.5472T>C (p.Cys1824=) c.5430T>C (p.Cys1810=) | |
| 8 | g.132967798T>G | CA372233983 | TG | c.5691T>G (p.Cys1897Trp) c.86T>G c.1057T>G c.153T>G (p.Cys51Trp) c.2346T>G c.5499T>G (p.Cys1833Trp) c.5625T>G (p.Cys1875Trp) c.5520T>G (p.Cys1840Trp) c.5472T>G (p.Cys1824Trp) c.5430T>G (p.Cys1810Trp) | |
| 8 | g.132967799G>A | CA372233988 | TG | c.5692G>A (p.Val1898Met) c.87G>A c.1058G>A c.154G>A (p.Val52Met) c.2347G>A c.5500G>A (p.Val1834Met) c.5626G>A (p.Val1876Met) c.5521G>A (p.Val1841Met) c.5473G>A (p.Val1825Met) c.5431G>A (p.Val1811Met) | |
| 8 | g.132967799G>C | CA372233987 | TG | c.5692G>C (p.Val1898Leu) c.87G>C c.1058G>C c.154G>C (p.Val52Leu) c.2347G>C c.5500G>C (p.Val1834Leu) c.5626G>C (p.Val1876Leu) c.5521G>C (p.Val1841Leu) c.5473G>C (p.Val1825Leu) c.5431G>C (p.Val1811Leu) | |
| 8 | g.132967799G>T | CA372233986 | TG | c.5692G>T (p.Val1898Leu) c.87G>T c.1058G>T c.154G>T (p.Val52Leu) c.2347G>T c.5500G>T (p.Val1834Leu) c.5626G>T (p.Val1876Leu) c.5521G>T (p.Val1841Leu) c.5473G>T (p.Val1825Leu) c.5431G>T (p.Val1811Leu) | |
| 8 | g.132967800T>A | CA372233989 | TG | c.5693T>A (p.Val1898Glu) c.88T>A c.1059T>A c.155T>A (p.Val52Glu) c.2348T>A c.5501T>A (p.Val1834Glu) c.5627T>A (p.Val1876Glu) c.5522T>A (p.Val1841Glu) c.5474T>A (p.Val1825Glu) c.5432T>A (p.Val1811Glu) | |
| 8 | g.132967800T>C | CA372233990 | TG | c.5693T>C (p.Val1898Ala) c.88T>C c.1059T>C c.155T>C (p.Val52Ala) c.2348T>C c.5501T>C (p.Val1834Ala) c.5627T>C (p.Val1876Ala) c.5522T>C (p.Val1841Ala) c.5474T>C (p.Val1825Ala) c.5432T>C (p.Val1811Ala) | |
| 8 | g.132967800T>G | CA4884602 | TG | c.5693T>G (p.Val1898Gly) c.88T>G c.1059T>G c.155T>G (p.Val52Gly) c.2348T>G c.5501T>G (p.Val1834Gly) c.5627T>G (p.Val1876Gly) c.5522T>G (p.Val1841Gly) c.5474T>G (p.Val1825Gly) c.5432T>G (p.Val1811Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132967800T= | CA1821000849 | TG | c.5693T= (p.Val1898=) c.88T= c.1059T= c.155T= (p.Val52=) c.2348T= c.5501T= (p.Val1834=) c.5627T= (p.Val1876=) c.5522T= (p.Val1841=) c.5474T= (p.Val1825=) c.5432T= (p.Val1811=) | |
| 8 | g.132967801G>A | CA4884603 | TG | c.5694G>A (p.Val1898=) c.89G>A c.1060G>A c.156G>A (p.Val52=) c.2349G>A c.5502G>A (p.Val1834=) c.5628G>A (p.Val1876=) c.5523G>A (p.Val1841=) c.5475G>A (p.Val1825=) c.5433G>A (p.Val1811=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132967801G>C | CA463012483 | TG | c.5694G>C (p.Val1898=) c.89G>C c.1060G>C c.156G>C (p.Val52=) c.2349G>C c.5502G>C (p.Val1834=) c.5628G>C (p.Val1876=) c.5523G>C (p.Val1841=) c.5475G>C (p.Val1825=) c.5433G>C (p.Val1811=) | |
| 8 | g.132967801G= | CA1821000852 | TG | c.5694G= (p.Val1898=) c.89G= c.1060G= c.156G= (p.Val52=) c.2349G= c.5502G= (p.Val1834=) c.5628G= (p.Val1876=) c.5523G= (p.Val1841=) c.5475G= (p.Val1825=) c.5433G= (p.Val1811=) | |
| 8 | g.132967801G>T | CA463012484 | TG | c.5694G>T (p.Val1898=) c.89G>T c.1060G>T c.156G>T (p.Val52=) c.2349G>T c.5502G>T (p.Val1834=) c.5628G>T (p.Val1876=) c.5523G>T (p.Val1841=) c.5475G>T (p.Val1825=) c.5433G>T (p.Val1811=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132967802C>A | CA372233991 | TG | c.5695C>A (p.Gln1899Lys) c.90C>A c.1061C>A c.157C>A (p.Gln53Lys) c.2350C>A c.5503C>A (p.Gln1835Lys) c.5629C>A (p.Gln1877Lys) c.5524C>A (p.Gln1842Lys) c.5476C>A (p.Gln1826Lys) c.5434C>A (p.Gln1812Lys) | |
| 8 | g.132967802C= | CA1821000855 | TG | c.5695C= (p.Gln1899=) c.90C= c.1061C= c.157C= (p.Gln53=) c.2350C= c.5503C= (p.Gln1835=) c.5629C= (p.Gln1877=) c.5524C= (p.Gln1842=) c.5476C= (p.Gln1826=) c.5434C= (p.Gln1812=) | |
| 8 | g.132967802C>G | CA372233992 | TG | c.5695C>G (p.Gln1899Glu) c.90C>G c.1061C>G c.157C>G (p.Gln53Glu) c.2350C>G c.5503C>G (p.Gln1835Glu) c.5629C>G (p.Gln1877Glu) c.5524C>G (p.Gln1842Glu) c.5476C>G (p.Gln1826Glu) c.5434C>G (p.Gln1812Glu) | |
| 8 | g.132967802C>T | CA372233993 | TG | c.5695C>T (p.Gln1899Ter) c.90C>T c.1061C>T c.157C>T (p.Gln53Ter) c.2350C>T c.5503C>T (p.Gln1835Ter) c.5629C>T (p.Gln1877Ter) c.5524C>T (p.Gln1842Ter) c.5476C>T (p.Gln1826Ter) c.5434C>T (p.Gln1812Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132967803A>C | CA372233994 | TG | c.5696A>C (p.Gln1899Pro) c.91A>C c.1062A>C c.158A>C (p.Gln53Pro) c.2351A>C c.5504A>C (p.Gln1835Pro) c.5630A>C (p.Gln1877Pro) c.5525A>C (p.Gln1842Pro) c.5477A>C (p.Gln1826Pro) c.5435A>C (p.Gln1812Pro) | |
| 8 | g.132967803A>G | CA372233995 | TG | c.5696A>G (p.Gln1899Arg) c.91A>G c.1062A>G c.158A>G (p.Gln53Arg) c.2351A>G c.5504A>G (p.Gln1835Arg) c.5630A>G (p.Gln1877Arg) c.5525A>G (p.Gln1842Arg) c.5477A>G (p.Gln1826Arg) c.5435A>G (p.Gln1812Arg) | |
| 8 | g.132967803A>T | CA372233996 | TG | c.5696A>T (p.Gln1899Leu) c.91A>T c.1062A>T c.158A>T (p.Gln53Leu) c.2351A>T c.5504A>T (p.Gln1835Leu) c.5630A>T (p.Gln1877Leu) c.5525A>T (p.Gln1842Leu) c.5477A>T (p.Gln1826Leu) c.5435A>T (p.Gln1812Leu) | COSMIC |
| 8 | g.132967804G>A | CA463012488 | TG | c.5697G>A (p.Gln1899=) c.92G>A c.1063G>A c.159G>A (p.Gln53=) c.2352G>A c.5505G>A (p.Gln1835=) c.5631G>A (p.Gln1877=) c.5526G>A (p.Gln1842=) c.5478G>A (p.Gln1826=) c.5436G>A (p.Gln1812=) | |
| 8 | g.132967804G>C | CA372233997 | TG | c.5697G>C (p.Gln1899His) c.92G>C c.1063G>C c.159G>C (p.Gln53His) c.2352G>C c.5505G>C (p.Gln1835His) c.5631G>C (p.Gln1877His) c.5526G>C (p.Gln1842His) c.5478G>C (p.Gln1826His) c.5436G>C (p.Gln1812His) | |
| 8 | g.132967804G>T | CA372233998 | TG | c.5697G>T (p.Gln1899His) c.92G>T c.1063G>T c.159G>T (p.Gln53His) c.2352G>T c.5505G>T (p.Gln1835His) c.5631G>T (p.Gln1877His) c.5526G>T (p.Gln1842His) c.5478G>T (p.Gln1826His) c.5436G>T (p.Gln1812His) | |
| 8 | g.132967805G>A | CA372234000 | TG | c.5698G>A (p.Glu1900Lys) c.93G>A c.1064G>A c.160G>A (p.Glu54Lys) c.2353G>A c.5506G>A (p.Glu1836Lys) c.5632G>A (p.Glu1878Lys) c.5527G>A (p.Glu1843Lys) c.5479G>A (p.Glu1827Lys) c.5437G>A (p.Glu1813Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132967805G>C | CA372234001 | TG | c.5698G>C (p.Glu1900Gln) c.93G>C c.1064G>C c.160G>C (p.Glu54Gln) c.2353G>C c.5506G>C (p.Glu1836Gln) c.5632G>C (p.Glu1878Gln) c.5527G>C (p.Glu1843Gln) c.5479G>C (p.Glu1827Gln) c.5437G>C (p.Glu1813Gln) | |
| 8 | g.132967805G= | CA1821000858 | TG | c.5698G= (p.Glu1900=) c.93G= c.1064G= c.160G= (p.Glu54=) c.2353G= c.5506G= (p.Glu1836=) c.5632G= (p.Glu1878=) c.5527G= (p.Glu1843=) c.5479G= (p.Glu1827=) c.5437G= (p.Glu1813=) | |
| 8 | g.132967805G>T | CA372233999 | TG | c.5698G>T (p.Glu1900Ter) c.93G>T c.1064G>T c.160G>T (p.Glu54Ter) c.2353G>T c.5506G>T (p.Glu1836Ter) c.5632G>T (p.Glu1878Ter) c.5527G>T (p.Glu1843Ter) c.5479G>T (p.Glu1827Ter) c.5437G>T (p.Glu1813Ter) | |
| 8 | g.132967806A>C | CA372234004 | TG | c.5699A>C (p.Glu1900Ala) c.94A>C c.1065A>C c.161A>C (p.Glu54Ala) c.2354A>C c.5507A>C (p.Glu1836Ala) c.5633A>C (p.Glu1878Ala) c.5528A>C (p.Glu1843Ala) c.5480A>C (p.Glu1827Ala) c.5438A>C (p.Glu1813Ala) | |
| 8 | g.132967806A>G | CA372234002 | TG | c.5699A>G (p.Glu1900Gly) c.94A>G c.1065A>G c.161A>G (p.Glu54Gly) c.2354A>G c.5507A>G (p.Glu1836Gly) c.5633A>G (p.Glu1878Gly) c.5528A>G (p.Glu1843Gly) c.5480A>G (p.Glu1827Gly) c.5438A>G (p.Glu1813Gly) | |
| 8 | g.132967806A>T | CA372234003 | TG | c.5699A>T (p.Glu1900Val) c.94A>T c.1065A>T c.161A>T (p.Glu54Val) c.2354A>T c.5507A>T (p.Glu1836Val) c.5633A>T (p.Glu1878Val) c.5528A>T (p.Glu1843Val) c.5480A>T (p.Glu1827Val) c.5438A>T (p.Glu1813Val) | |
| 8 | g.132967807G>A | CA463012489 | TG | c.5700G>A (p.Glu1900=) c.95G>A c.1066G>A c.162G>A (p.Glu54=) c.2355G>A c.5508G>A (p.Glu1836=) c.5634G>A (p.Glu1878=) c.5529G>A (p.Glu1843=) c.5481G>A (p.Glu1827=) c.5439G>A (p.Glu1813=) | dbSNP |
| 8 | g.132967807G>C | CA372234005 | TG | c.5700G>C (p.Glu1900Asp) c.95G>C c.1066G>C c.162G>C (p.Glu54Asp) c.2355G>C c.5508G>C (p.Glu1836Asp) c.5634G>C (p.Glu1878Asp) c.5529G>C (p.Glu1843Asp) c.5481G>C (p.Glu1827Asp) c.5439G>C (p.Glu1813Asp) | |
| 8 | g.132967807G= | CA1821000860 | TG | c.5700G= (p.Glu1900=) c.95G= c.1066G= c.162G= (p.Glu54=) c.2355G= c.5508G= (p.Glu1836=) c.5634G= (p.Glu1878=) c.5529G= (p.Glu1843=) c.5481G= (p.Glu1827=) c.5439G= (p.Glu1813=) | |
| 8 | g.132967807G>T | CA372234006 | TG | c.5700G>T (p.Glu1900Asp) c.95G>T c.1066G>T c.162G>T (p.Glu54Asp) c.2355G>T c.5508G>T (p.Glu1836Asp) c.5634G>T (p.Glu1878Asp) c.5529G>T (p.Glu1843Asp) c.5481G>T (p.Glu1827Asp) c.5439G>T (p.Glu1813Asp) | |
| 8 | g.132967808C>A | CA372234007 | TG | c.5701C>A (p.His1901Asn) c.96C>A c.1067C>A c.163C>A (p.His55Asn) c.2356C>A c.5509C>A (p.His1837Asn) c.5635C>A (p.His1879Asn) c.5530C>A (p.His1844Asn) c.5482C>A (p.His1828Asn) c.5440C>A (p.His1814Asn) | |
| 8 | g.132967808C= | CA1821000864 | TG | c.5701C= (p.His1901=) c.96C= c.1067C= c.163C= (p.His55=) c.2356C= c.5509C= (p.His1837=) c.5635C= (p.His1879=) c.5530C= (p.His1844=) c.5482C= (p.His1828=) c.5440C= (p.His1814=) | |
| 8 | g.132967808C>G | CA4884604 | TG | c.5701C>G (p.His1901Asp) c.96C>G c.1067C>G c.163C>G (p.His55Asp) c.2356C>G c.5509C>G (p.His1837Asp) c.5635C>G (p.His1879Asp) c.5530C>G (p.His1844Asp) c.5482C>G (p.His1828Asp) c.5440C>G (p.His1814Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132967808C>T | CA372234008 | TG | c.5701C>T (p.His1901Tyr) c.96C>T c.1067C>T c.163C>T (p.His55Tyr) c.2356C>T c.5509C>T (p.His1837Tyr) c.5635C>T (p.His1879Tyr) c.5530C>T (p.His1844Tyr) c.5482C>T (p.His1828Tyr) c.5440C>T (p.His1814Tyr) | gnomAD v4 |
| 8 | g.132967809A= | CA1821000874 | TG | c.5702A= (p.His1901=) c.97A= c.1068A= c.164A= (p.His55=) c.2357A= c.5510A= (p.His1837=) c.5636A= (p.His1879=) c.5531A= (p.His1844=) c.5483A= (p.His1828=) c.5441A= (p.His1814=) | |
| 8 | g.132967809A>C | CA372234009 | TG | c.5702A>C (p.His1901Pro) c.97A>C c.1068A>C c.164A>C (p.His55Pro) c.2357A>C c.5510A>C (p.His1837Pro) c.5636A>C (p.His1879Pro) c.5531A>C (p.His1844Pro) c.5483A>C (p.His1828Pro) c.5441A>C (p.His1814Pro) | ClinVar |
| 8 | g.132967809A>G | CA4884605 | TG | c.5702A>G (p.His1901Arg) c.97A>G c.1068A>G c.164A>G (p.His55Arg) c.2357A>G c.5510A>G (p.His1837Arg) c.5636A>G (p.His1879Arg) c.5531A>G (p.His1844Arg) c.5483A>G (p.His1828Arg) c.5441A>G (p.His1814Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132967809A>T | CA372234010 | TG | c.5702A>T (p.His1901Leu) c.97A>T c.1068A>T c.164A>T (p.His55Leu) c.2357A>T c.5510A>T (p.His1837Leu) c.5636A>T (p.His1879Leu) c.5531A>T (p.His1844Leu) c.5483A>T (p.His1828Leu) c.5441A>T (p.His1814Leu) | |
| 8 | g.132967810C>A | CA372234011 | TG | c.5703C>A (p.His1901Gln) c.98C>A c.1069C>A c.165C>A (p.His55Gln) c.2358C>A c.5511C>A (p.His1837Gln) c.5637C>A (p.His1879Gln) c.5532C>A (p.His1844Gln) c.5484C>A (p.His1828Gln) c.5442C>A (p.His1814Gln) | |
| 8 | g.132967810C= | CA1821000877 | TG | c.5703C= (p.His1901=) c.98C= c.1069C= c.165C= (p.His55=) c.2358C= c.5511C= (p.His1837=) c.5637C= (p.His1879=) c.5532C= (p.His1844=) c.5484C= (p.His1828=) c.5442C= (p.His1814=) | |
| 8 | g.132967810C>G | CA372234012 | TG | c.5703C>G (p.His1901Gln) c.98C>G c.1069C>G c.165C>G (p.His55Gln) c.2358C>G c.5511C>G (p.His1837Gln) c.5637C>G (p.His1879Gln) c.5532C>G (p.His1844Gln) c.5484C>G (p.His1828Gln) c.5442C>G (p.His1814Gln) | dbSNP |