| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.61740857G>A | CA7216007 | HIF1A,HIF1A-AS3 | c.1762G>A (p.Ala588Thr) c.1765G>A (p.Ala589Thr) c.1834G>A (p.Ala612Thr) n.670G>A n.408G>A c.1585G>A (p.Ala529Thr) n.213+10028C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.61740857G>C | CA389928344 | HIF1A,HIF1A-AS3 | c.1762G>C (p.Ala588Pro) c.1765G>C (p.Ala589Pro) c.1834G>C (p.Ala612Pro) n.670G>C n.408G>C c.1585G>C (p.Ala529Pro) n.213+10028C>G | COSMIC |
| 14 | g.61740857G= | CA2141395966 | HIF1A,HIF1A-AS3 | c.1762G= (p.Ala588=) c.1765G= (p.Ala589=) c.1834G= (p.Ala612=) n.670G= n.408G= c.1585G= (p.Ala529=) n.213+10028C= | |
| 14 | g.61740857G>T | CA389928346 | HIF1A,HIF1A-AS3 | c.1762G>T (p.Ala588Ser) c.1765G>T (p.Ala589Ser) c.1834G>T (p.Ala612Ser) n.670G>T n.408G>T c.1585G>T (p.Ala529Ser) n.213+10028C>A | |
| 14 | g.61740858C>A | CA389928348 | HIF1A,HIF1A-AS3 | c.1763C>A (p.Ala588Glu) c.1766C>A (p.Ala589Glu) c.1835C>A (p.Ala612Glu) n.671C>A n.409C>A c.1586C>A (p.Ala529Glu) n.213+10027G>T | |
| 14 | g.61740858C>G | CA389928350 | HIF1A,HIF1A-AS3 | c.1763C>G (p.Ala588Gly) c.1766C>G (p.Ala589Gly) c.1835C>G (p.Ala612Gly) n.671C>G n.409C>G c.1586C>G (p.Ala529Gly) n.213+10027G>C | |
| 14 | g.61740858C>T | CA389928351 | HIF1A,HIF1A-AS3 | c.1763C>T (p.Ala588Val) c.1766C>T (p.Ala589Val) c.1835C>T (p.Ala612Val) n.671C>T n.409C>T c.1586C>T (p.Ala529Val) n.213+10027G>A | |
| 14 | g.61740859A= | CA2141395970 | HIF1A,HIF1A-AS3 | c.1764A= (p.Ala588=) c.1767A= (p.Ala589=) c.1836A= (p.Ala612=) n.672A= n.410A= c.1587A= (p.Ala529=) n.213+10026T= | |
| 14 | g.61740859A>C | CA486957868 | HIF1A,HIF1A-AS3 | c.1764A>C (p.Ala588=) c.1767A>C (p.Ala589=) c.1836A>C (p.Ala612=) n.672A>C n.410A>C c.1587A>C (p.Ala529=) n.213+10026T>G | |
| 14 | g.61740859A>G | CA486957870 | HIF1A,HIF1A-AS3 | c.1764A>G (p.Ala588=) c.1767A>G (p.Ala589=) c.1836A>G (p.Ala612=) n.672A>G n.410A>G c.1587A>G (p.Ala529=) n.213+10026T>C | dbSNP gnomAD v2 |
| 14 | g.61740859A>T | CA486957872 | HIF1A,HIF1A-AS3 | c.1764A>T (p.Ala588=) c.1767A>T (p.Ala589=) c.1836A>T (p.Ala612=) n.672A>T n.410A>T c.1587A>T (p.Ala529=) n.213+10026T>A | |
| 14 | g.61740860A= | CA2141395973 | HIF1A,HIF1A-AS3 | c.1765A= (p.Ser589=) c.1768A= (p.Ser590=) c.1837A= (p.Ser613=) n.673A= n.411A= c.1588A= (p.Ser530=) n.213+10025T= | |
| 14 | g.61740860A>C | CA389928352 | HIF1A,HIF1A-AS3 | c.1765A>C (p.Ser589Arg) c.1768A>C (p.Ser590Arg) c.1837A>C (p.Ser613Arg) n.673A>C n.411A>C c.1588A>C (p.Ser530Arg) n.213+10025T>G | |
| 14 | g.61740860A>G | CA261777751 | HIF1A,HIF1A-AS3 | c.1765A>G (p.Ser589Gly) c.1768A>G (p.Ser590Gly) c.1837A>G (p.Ser613Gly) n.673A>G n.411A>G c.1588A>G (p.Ser530Gly) n.213+10025T>C | dbSNP |
| 14 | g.61740860A>T | CA389928354 | HIF1A,HIF1A-AS3 | c.1765A>T (p.Ser589Cys) c.1768A>T (p.Ser590Cys) c.1837A>T (p.Ser613Cys) n.673A>T n.411A>T c.1588A>T (p.Ser530Cys) n.213+10025T>A | |
| 14 | g.61740861G>A | CA389928356 | HIF1A,HIF1A-AS3 | c.1766G>A (p.Ser589Asn) c.1769G>A (p.Ser590Asn) c.1838G>A (p.Ser613Asn) n.674G>A n.412G>A c.1589G>A (p.Ser530Asn) n.213+10024C>T | |
| 14 | g.61740861G>C | CA389928358 | HIF1A,HIF1A-AS3 | c.1766G>C (p.Ser589Thr) c.1769G>C (p.Ser590Thr) c.1838G>C (p.Ser613Thr) n.674G>C n.412G>C c.1589G>C (p.Ser530Thr) n.213+10024C>G | dbSNP |
| 14 | g.61740861G= | CA2141395976 | HIF1A,HIF1A-AS3 | c.1766G= (p.Ser589=) c.1769G= (p.Ser590=) c.1838G= (p.Ser613=) n.674G= n.412G= c.1589G= (p.Ser530=) n.213+10024C= | |
| 14 | g.61740861G>T | CA389928359 | HIF1A,HIF1A-AS3 | c.1766G>T (p.Ser589Ile) c.1769G>T (p.Ser590Ile) c.1838G>T (p.Ser613Ile) n.674G>T n.412G>T c.1589G>T (p.Ser530Ile) n.213+10024C>A | |
| 14 | g.61740862C>A | CA389928360 | HIF1A,HIF1A-AS3 | c.1767C>A (p.Ser589Arg) c.1770C>A (p.Ser590Arg) c.1839C>A (p.Ser613Arg) n.675C>A n.413C>A c.1590C>A (p.Ser530Arg) n.213+10023G>T | |
| 14 | g.61740862C>G | CA389928362 | HIF1A,HIF1A-AS3 | c.1767C>G (p.Ser589Arg) c.1770C>G (p.Ser590Arg) c.1839C>G (p.Ser613Arg) n.675C>G n.413C>G c.1590C>G (p.Ser530Arg) n.213+10023G>C | |
| 14 | g.61740862C>T | CA486957874 | HIF1A,HIF1A-AS3 | c.1767C>T (p.Ser589=) c.1770C>T (p.Ser590=) c.1839C>T (p.Ser613=) n.675C>T n.413C>T c.1590C>T (p.Ser530=) n.213+10023G>A | |
| 14 | g.61740863C>A | CA389928367 | HIF1A,HIF1A-AS3 | c.1768C>A (p.Pro590Thr) c.1771C>A (p.Pro591Thr) c.1840C>A (p.Pro614Thr) n.676C>A n.414C>A c.1591C>A (p.Pro531Thr) n.213+10022G>T | |
| 14 | g.61740863C= | CA2141395980 | HIF1A,HIF1A-AS3 | c.1768C= (p.Pro590=) c.1771C= (p.Pro591=) c.1840C= (p.Pro614=) n.676C= n.414C= c.1591C= (p.Pro531=) n.213+10022G= | |
| 14 | g.61740863C>G | CA389928364 | HIF1A,HIF1A-AS3 | c.1768C>G (p.Pro590Ala) c.1771C>G (p.Pro591Ala) c.1840C>G (p.Pro614Ala) n.676C>G n.414C>G c.1591C>G (p.Pro531Ala) n.213+10022G>C | |
| 14 | g.61740863C>T | CA389928366 | HIF1A,HIF1A-AS3 | c.1768C>T (p.Pro590Ser) c.1771C>T (p.Pro591Ser) c.1840C>T (p.Pro614Ser) n.676C>T n.414C>T c.1591C>T (p.Pro531Ser) n.213+10022G>A | dbSNP gnomAD v4 |
| 14 | g.61740864C>A | CA389928369 | HIF1A,HIF1A-AS3 | c.1769C>A (p.Pro590His) c.1772C>A (p.Pro591His) c.1841C>A (p.Pro614His) n.677C>A n.415C>A c.1592C>A (p.Pro531His) n.213+10021G>T | |
| 14 | g.61740864C>G | CA389928371 | HIF1A,HIF1A-AS3 | c.1769C>G (p.Pro590Arg) c.1772C>G (p.Pro591Arg) c.1841C>G (p.Pro614Arg) n.677C>G n.415C>G c.1592C>G (p.Pro531Arg) n.213+10021G>C | |
| 14 | g.61740864C>T | CA389928372 | HIF1A,HIF1A-AS3 | c.1769C>T (p.Pro590Leu) c.1772C>T (p.Pro591Leu) c.1841C>T (p.Pro614Leu) n.677C>T n.415C>T c.1592C>T (p.Pro531Leu) n.213+10021G>A | |
| 14 | g.61740865T>A | CA486957878 | HIF1A,HIF1A-AS3 | c.1770T>A (p.Pro590=) c.1773T>A (p.Pro591=) c.1842T>A (p.Pro614=) n.678T>A n.416T>A c.1593T>A (p.Pro531=) n.213+10020A>T | |
| 14 | g.61740865T>C | CA486957879 | HIF1A,HIF1A-AS3 | c.1770T>C (p.Pro590=) c.1773T>C (p.Pro591=) c.1842T>C (p.Pro614=) n.678T>C n.416T>C c.1593T>C (p.Pro531=) n.213+10020A>G | |
| 14 | g.61740865T>G | CA486957880 | HIF1A,HIF1A-AS3 | c.1770T>G (p.Pro590=) c.1773T>G (p.Pro591=) c.1842T>G (p.Pro614=) n.678T>G n.416T>G c.1593T>G (p.Pro531=) n.213+10020A>C | |
| 14 | g.61740866G>A | CA389928374 | HIF1A,HIF1A-AS3 | c.1771G>A (p.Glu591Lys) c.1774G>A (p.Glu592Lys) c.1843G>A (p.Glu615Lys) n.679G>A n.417G>A c.1594G>A (p.Glu532Lys) n.213+10019C>T | |
| 14 | g.61740866G>C | CA389928376 | HIF1A,HIF1A-AS3 | c.1771G>C (p.Glu591Gln) c.1774G>C (p.Glu592Gln) c.1843G>C (p.Glu615Gln) n.679G>C n.417G>C c.1594G>C (p.Glu532Gln) n.213+10019C>G | dbSNP |
| 14 | g.61740866G= | CA2141395989 | HIF1A,HIF1A-AS3 | c.1771G= (p.Glu591=) c.1774G= (p.Glu592=) c.1843G= (p.Glu615=) n.679G= n.417G= c.1594G= (p.Glu532=) n.213+10019C= | |
| 14 | g.61740866G>T | CA389928377 | HIF1A,HIF1A-AS3 | c.1771G>T (p.Glu591Ter) c.1774G>T (p.Glu592Ter) c.1843G>T (p.Glu615Ter) n.679G>T n.417G>T c.1594G>T (p.Glu532Ter) n.213+10019C>A | |
| 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= |