Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.61740867A>C | CA389928379 | HIF1A,HIF1A-AS3 | c.1772A>C (p.Glu591Ala) c.1775A>C (p.Glu592Ala) c.1844A>C (p.Glu615Ala) n.680A>C n.418A>C c.1595A>C (p.Glu532Ala) n.213+10018T>G | |
14 | g.61740867A>G | CA389928380 | HIF1A,HIF1A-AS3 | c.1772A>G (p.Glu591Gly) c.1775A>G (p.Glu592Gly) c.1844A>G (p.Glu615Gly) n.680A>G n.418A>G c.1595A>G (p.Glu532Gly) n.213+10018T>C | |
14 | g.61740867A>T | CA389928382 | HIF1A,HIF1A-AS3 | c.1772A>T (p.Glu591Val) c.1775A>T (p.Glu592Val) c.1844A>T (p.Glu615Val) n.680A>T n.418A>T c.1595A>T (p.Glu532Val) n.213+10018T>A | |
14 | g.61740868A>C | CA389928384 | HIF1A,HIF1A-AS3 | c.1773A>C (p.Glu591Asp) c.1776A>C (p.Glu592Asp) c.1845A>C (p.Glu615Asp) n.681A>C n.419A>C c.1596A>C (p.Glu532Asp) n.213+10017T>G | |
14 | g.61740868A>G | CA486957888 | HIF1A,HIF1A-AS3 | c.1773A>G (p.Glu591=) c.1776A>G (p.Glu592=) c.1845A>G (p.Glu615=) n.681A>G n.419A>G c.1596A>G (p.Glu532=) n.213+10017T>C | |
14 | g.61740868A>T | CA389928385 | HIF1A,HIF1A-AS3 | c.1773A>T (p.Glu591Asp) c.1776A>T (p.Glu592Asp) c.1845A>T (p.Glu615Asp) n.681A>T n.419A>T c.1596A>T (p.Glu532Asp) n.213+10017T>A | |
14 | g.61740869A>C | CA389928390 | HIF1A,HIF1A-AS3 | c.1774A>C (p.Ser592Arg) c.1777A>C (p.Ser593Arg) c.1846A>C (p.Ser616Arg) n.682A>C n.420A>C c.1597A>C (p.Ser533Arg) n.213+10016T>G | |
14 | g.61740869A>G | CA389928388 | HIF1A,HIF1A-AS3 | c.1774A>G (p.Ser592Gly) c.1777A>G (p.Ser593Gly) c.1846A>G (p.Ser616Gly) n.682A>G n.420A>G c.1597A>G (p.Ser533Gly) n.213+10016T>C | gnomAD v4 |
14 | g.61740869A>T | CA389928387 | HIF1A,HIF1A-AS3 | c.1774A>T (p.Ser592Cys) c.1777A>T (p.Ser593Cys) c.1846A>T (p.Ser616Cys) n.682A>T n.420A>T c.1597A>T (p.Ser533Cys) n.213+10016T>A | |
14 | g.61740870G>A | CA389928392 | HIF1A,HIF1A-AS3 | c.1775G>A (p.Ser592Asn) c.1778G>A (p.Ser593Asn) c.1847G>A (p.Ser616Asn) n.683G>A n.421G>A c.1598G>A (p.Ser533Asn) n.213+10015C>T | |
14 | g.61740870G>C | CA389928395 | HIF1A,HIF1A-AS3 | c.1775G>C (p.Ser592Thr) c.1778G>C (p.Ser593Thr) c.1847G>C (p.Ser616Thr) n.683G>C n.421G>C c.1598G>C (p.Ser533Thr) n.213+10015C>G | |
14 | g.61740870G>T | CA389928393 | HIF1A,HIF1A-AS3 | c.1775G>T (p.Ser592Ile) c.1778G>T (p.Ser593Ile) c.1847G>T (p.Ser616Ile) n.683G>T n.421G>T c.1598G>T (p.Ser533Ile) n.213+10015C>A | |
14 | g.61740871C>A | CA389928397 | HIF1A,HIF1A-AS3 | c.1776C>A (p.Ser592Arg) c.1779C>A (p.Ser593Arg) c.1848C>A (p.Ser616Arg) n.684C>A n.422C>A c.1599C>A (p.Ser533Arg) n.213+10014G>T | |
14 | g.61740871C= | CA2141395993 | HIF1A,HIF1A-AS3 | c.1776C= (p.Ser592=) c.1779C= (p.Ser593=) c.1848C= (p.Ser616=) n.684C= n.422C= c.1599C= (p.Ser533=) n.213+10014G= | |
14 | g.61740871C>G | CA389928399 | HIF1A,HIF1A-AS3 | c.1776C>G (p.Ser592Arg) c.1779C>G (p.Ser593Arg) c.1848C>G (p.Ser616Arg) n.684C>G n.422C>G c.1599C>G (p.Ser533Arg) n.213+10014G>C | |
14 | g.61740871C>T | CA7216008 | HIF1A,HIF1A-AS3 | c.1776C>T (p.Ser592=) c.1779C>T (p.Ser593=) c.1848C>T (p.Ser616=) n.684C>T n.422C>T c.1599C>T (p.Ser533=) n.213+10014G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.61740871_61740874dup | CA2575545762 | HIF1A,HIF1A-AS3 | c.1776_1779dup (p.Ser594ArgfsTer21) c.1779_1782dup (p.Ser595ArgfsTer21) c.1848_1851dup (p.Ser618ArgfsTer21) n.684_687dup n.422_425dup c.1599_1602dup (p.Ser535ArgfsTer21) n.213+10011_213+10014dup | |
14 | g.61740872G>A | CA7216010 | HIF1A,HIF1A-AS3 | c.1777G>A (p.Ala593Thr) c.1780G>A (p.Ala594Thr) c.1849G>A (p.Ala617Thr) n.685G>A n.423G>A c.1600G>A (p.Ala534Thr) n.213+10013C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.61740872G>C | CA7216009 | HIF1A,HIF1A-AS3 | c.1777G>C (p.Ala593Pro) c.1780G>C (p.Ala594Pro) c.1849G>C (p.Ala617Pro) n.685G>C n.423G>C c.1600G>C (p.Ala534Pro) n.213+10013C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.61740872G= | CA2141395996 | HIF1A,HIF1A-AS3 | c.1777G= (p.Ala593=) c.1780G= (p.Ala594=) c.1849G= (p.Ala617=) n.685G= n.423G= c.1600G= (p.Ala534=) n.213+10013C= | |
14 | g.61740872G>T | CA389928401 | HIF1A,HIF1A-AS3 | c.1777G>T (p.Ala593Ser) c.1780G>T (p.Ala594Ser) c.1849G>T (p.Ala617Ser) n.685G>T n.423G>T c.1600G>T (p.Ala534Ser) n.213+10013C>A | |
14 | g.61740873C>A | CA389928403 | HIF1A,HIF1A-AS3 | c.1778C>A (p.Ala593Glu) c.1781C>A (p.Ala594Glu) c.1850C>A (p.Ala617Glu) n.686C>A n.424C>A c.1601C>A (p.Ala534Glu) n.213+10012G>T | |
14 | g.61740873C>G | CA389928405 | HIF1A,HIF1A-AS3 | c.1778C>G (p.Ala593Gly) c.1781C>G (p.Ala594Gly) c.1850C>G (p.Ala617Gly) n.686C>G n.424C>G c.1601C>G (p.Ala534Gly) n.213+10012G>C | |
14 | g.61740873C>T | CA389928406 | HIF1A,HIF1A-AS3 | c.1778C>T (p.Ala593Val) c.1781C>T (p.Ala594Val) c.1850C>T (p.Ala617Val) n.686C>T n.424C>T c.1601C>T (p.Ala534Val) n.213+10012G>A | gnomAD v4 |
14 | g.61740874A= | CA2141396001 | HIF1A,HIF1A-AS3 | c.1779A= (p.Ala593=) c.1782A= (p.Ala594=) c.1851A= (p.Ala617=) n.687A= n.425A= c.1602A= (p.Ala534=) n.213+10011T= | |
14 | g.61740874A>C | CA486957896 | HIF1A,HIF1A-AS3 | c.1779A>C (p.Ala593=) c.1782A>C (p.Ala594=) c.1851A>C (p.Ala617=) n.687A>C n.425A>C c.1602A>C (p.Ala534=) n.213+10011T>G | |
14 | g.61740874A>G | CA261777784 | HIF1A,HIF1A-AS3 | c.1779A>G (p.Ala593=) c.1782A>G (p.Ala594=) c.1851A>G (p.Ala617=) n.687A>G n.425A>G c.1602A>G (p.Ala534=) n.213+10011T>C | dbSNP |
14 | g.61740874A>T | CA486957897 | HIF1A,HIF1A-AS3 | c.1779A>T (p.Ala593=) c.1782A>T (p.Ala594=) c.1851A>T (p.Ala617=) n.687A>T n.425A>T c.1602A>T (p.Ala534=) n.213+10011T>A | |
14 | g.61740875A= | CA2141396003 | HIF1A,HIF1A-AS3 | c.1780A= (p.Ser594=) c.1783A= (p.Ser595=) c.1852A= (p.Ser618=) n.688A= n.426A= c.1603A= (p.Ser535=) n.213+10010T= | |
14 | g.61740875A>C | CA389928408 | HIF1A,HIF1A-AS3 | c.1780A>C (p.Ser594Arg) c.1783A>C (p.Ser595Arg) c.1852A>C (p.Ser618Arg) n.688A>C n.426A>C c.1603A>C (p.Ser535Arg) n.213+10010T>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.61740875A>G | CA261777793 | HIF1A,HIF1A-AS3 | c.1780A>G (p.Ser594Gly) c.1783A>G (p.Ser595Gly) c.1852A>G (p.Ser618Gly) n.688A>G n.426A>G c.1603A>G (p.Ser535Gly) n.213+10010T>C | dbSNP |
14 | g.61740875A>T | CA389928409 | HIF1A,HIF1A-AS3 | c.1780A>T (p.Ser594Cys) c.1783A>T (p.Ser595Cys) c.1852A>T (p.Ser618Cys) n.688A>T n.426A>T c.1603A>T (p.Ser535Cys) n.213+10010T>A | |
14 | g.61740876G>A | CA389928415 | HIF1A,HIF1A-AS3 | c.1781G>A (p.Ser594Asn) c.1784G>A (p.Ser595Asn) c.1853G>A (p.Ser618Asn) n.689G>A n.427G>A c.1604G>A (p.Ser535Asn) n.213+10009C>T | gnomAD v4 |
14 | g.61740876G>C | CA389928411 | HIF1A,HIF1A-AS3 | c.1781G>C (p.Ser594Thr) c.1784G>C (p.Ser595Thr) c.1853G>C (p.Ser618Thr) n.689G>C n.427G>C c.1604G>C (p.Ser535Thr) n.213+10009C>G | |
14 | g.61740876G>T | CA389928413 | HIF1A,HIF1A-AS3 | c.1781G>T (p.Ser594Ile) c.1784G>T (p.Ser595Ile) c.1853G>T (p.Ser618Ile) n.689G>T n.427G>T c.1604G>T (p.Ser535Ile) n.213+10009C>A | |
14 | g.61740877T>A | CA389928416 | HIF1A,HIF1A-AS3 | c.1782T>A (p.Ser594Arg) c.1785T>A (p.Ser595Arg) c.1854T>A (p.Ser618Arg) n.690T>A n.428T>A c.1605T>A (p.Ser535Arg) n.213+10008A>T | |
14 | g.61740877T>C | CA486957903 | HIF1A,HIF1A-AS3 | c.1782T>C (p.Ser594=) c.1785T>C (p.Ser595=) c.1854T>C (p.Ser618=) n.690T>C n.428T>C c.1605T>C (p.Ser535=) n.213+10008A>G | |
14 | g.61740877T>G | CA389928417 | HIF1A,HIF1A-AS3 | c.1782T>G (p.Ser594Arg) c.1785T>G (p.Ser595Arg) c.1854T>G (p.Ser618Arg) n.690T>G n.428T>G c.1605T>G (p.Ser535Arg) n.213+10008A>C | |
14 | g.61740878C>A | CA389928419 | HIF1A,HIF1A-AS3 | c.1783C>A (p.Pro595Thr) c.1786C>A (p.Pro596Thr) c.1855C>A (p.Pro619Thr) n.691C>A n.429C>A c.1606C>A (p.Pro536Thr) n.213+10007G>T | |
14 | g.61740878C>G | CA389928421 | HIF1A,HIF1A-AS3 | c.1783C>G (p.Pro595Ala) c.1786C>G (p.Pro596Ala) c.1855C>G (p.Pro619Ala) n.691C>G n.429C>G c.1606C>G (p.Pro536Ala) n.213+10007G>C | gnomAD v4 |
14 | g.61740878C>T | CA389928423 | HIF1A,HIF1A-AS3 | c.1783C>T (p.Pro595Ser) c.1786C>T (p.Pro596Ser) c.1855C>T (p.Pro619Ser) n.691C>T n.429C>T c.1606C>T (p.Pro536Ser) n.213+10007G>A | |
14 | g.61740879C>A | CA389928424 | HIF1A,HIF1A-AS3 | c.1784C>A (p.Pro595His) c.1787C>A (p.Pro596His) c.1856C>A (p.Pro619His) n.692C>A n.430C>A c.1607C>A (p.Pro536His) n.213+10006G>T | |
14 | g.61740879C>G | CA389928425 | HIF1A,HIF1A-AS3 | c.1784C>G (p.Pro595Arg) c.1787C>G (p.Pro596Arg) c.1856C>G (p.Pro619Arg) n.692C>G n.430C>G c.1607C>G (p.Pro536Arg) n.213+10006G>C | |
14 | g.61740879C>T | CA389928426 | HIF1A,HIF1A-AS3 | c.1784C>T (p.Pro595Leu) c.1787C>T (p.Pro596Leu) c.1856C>T (p.Pro619Leu) n.692C>T n.430C>T c.1607C>T (p.Pro536Leu) n.213+10006G>A | |
14 | g.61740880T>A | CA486957910 | HIF1A,HIF1A-AS3 | c.1785T>A (p.Pro595=) c.1788T>A (p.Pro596=) c.1857T>A (p.Pro619=) n.693T>A n.431T>A c.1608T>A (p.Pro536=) n.213+10005A>T | |
14 | g.61740880T>C | CA486957912 | HIF1A,HIF1A-AS3 | c.1785T>C (p.Pro595=) c.1788T>C (p.Pro596=) c.1857T>C (p.Pro619=) n.693T>C n.431T>C c.1608T>C (p.Pro536=) n.213+10005A>G | gnomAD v4 |
14 | g.61740880T>G | CA486957914 | HIF1A,HIF1A-AS3 | c.1785T>G (p.Pro595=) c.1788T>G (p.Pro596=) c.1857T>G (p.Pro619=) n.693T>G n.431T>G c.1608T>G (p.Pro536=) n.213+10005A>C | |
14 | g.61740881C>A | CA389928428 | HIF1A,HIF1A-AS3 | c.1786C>A (p.Gln596Lys) c.1789C>A (p.Gln597Lys) c.1858C>A (p.Gln620Lys) n.694C>A n.432C>A c.1609C>A (p.Gln537Lys) n.213+10004G>T | |
14 | g.61740881C= | CA2141396009 | HIF1A,HIF1A-AS3 | c.1786C= (p.Gln596=) c.1789C= (p.Gln597=) c.1858C= (p.Gln620=) n.694C= n.432C= c.1609C= (p.Gln537=) n.213+10004G= | |
14 | g.61740881C>G | CA389928429 | HIF1A,HIF1A-AS3 | c.1786C>G (p.Gln596Glu) c.1789C>G (p.Gln597Glu) c.1858C>G (p.Gln620Glu) n.694C>G n.432C>G c.1609C>G (p.Gln537Glu) n.213+10004G>C | dbSNP gnomAD v2 gnomAD v4 |