| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.61740757C>A | CA389927964 | HIF1A,HIF1A-AS3 | c.1662C>A (p.Asp554Glu) c.1665C>A (p.Asp555Glu) c.1734C>A (p.Asp578Glu) n.570C>A n.308C>A c.1485C>A (p.Asp495Glu) n.213+10128G>T | |
| 14 | g.61740757C>G | CA389927966 | HIF1A,HIF1A-AS3 | c.1662C>G (p.Asp554Glu) c.1665C>G (p.Asp555Glu) c.1734C>G (p.Asp578Glu) n.570C>G n.308C>G c.1485C>G (p.Asp495Glu) n.213+10128G>C | |
| 14 | g.61740757C>T | CA486957755 | HIF1A,HIF1A-AS3 | c.1662C>T (p.Asp554=) c.1665C>T (p.Asp555=) c.1734C>T (p.Asp578=) n.570C>T n.308C>T c.1485C>T (p.Asp495=) n.213+10128G>A | |
| 14 | g.61740758A>C | CA389927967 | HIF1A,HIF1A-AS3 | c.1663A>C (p.Thr555Pro) c.1666A>C (p.Thr556Pro) c.1735A>C (p.Thr579Pro) n.571A>C n.309A>C c.1486A>C (p.Thr496Pro) n.213+10127T>G | |
| 14 | g.61740758A>G | CA389927968 | HIF1A,HIF1A-AS3 | c.1663A>G (p.Thr555Ala) c.1666A>G (p.Thr556Ala) c.1735A>G (p.Thr579Ala) n.571A>G n.309A>G c.1486A>G (p.Thr496Ala) n.213+10127T>C | |
| 14 | g.61740758A>T | CA389927969 | HIF1A,HIF1A-AS3 | c.1663A>T (p.Thr555Ser) c.1666A>T (p.Thr556Ser) c.1735A>T (p.Thr579Ser) n.571A>T n.309A>T c.1486A>T (p.Thr496Ser) n.213+10127T>A | |
| 14 | g.61740759C>A | CA389927970 | HIF1A,HIF1A-AS3 | c.1664C>A (p.Thr555Lys) c.1667C>A (p.Thr556Lys) c.1736C>A (p.Thr579Lys) n.572C>A n.310C>A c.1487C>A (p.Thr496Lys) n.213+10126G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.61740759C= | CA2141395844 | HIF1A,HIF1A-AS3 | c.1664C= (p.Thr555=) c.1667C= (p.Thr556=) c.1736C= (p.Thr579=) n.572C= n.310C= c.1487C= (p.Thr496=) n.213+10126G= | |
| 14 | g.61740759C>G | CA389927972 | HIF1A,HIF1A-AS3 | c.1664C>G (p.Thr555Arg) c.1667C>G (p.Thr556Arg) c.1736C>G (p.Thr579Arg) n.572C>G n.310C>G c.1487C>G (p.Thr496Arg) n.213+10126G>C | |
| 14 | g.61740759C>T | CA389927974 | HIF1A,HIF1A-AS3 | c.1664C>T (p.Thr555Ile) c.1667C>T (p.Thr556Ile) c.1736C>T (p.Thr579Ile) n.572C>T n.310C>T c.1487C>T (p.Thr496Ile) n.213+10126G>A | |
| 14 | g.61740760A>C | CA486957758 | HIF1A,HIF1A-AS3 | c.1665A>C (p.Thr555=) c.1668A>C (p.Thr556=) c.1737A>C (p.Thr579=) n.573A>C n.311A>C c.1488A>C (p.Thr496=) n.213+10125T>G | |
| 14 | g.61740760A>G | CA486957759 | HIF1A,HIF1A-AS3 | c.1665A>G (p.Thr555=) c.1668A>G (p.Thr556=) c.1737A>G (p.Thr579=) n.573A>G n.311A>G c.1488A>G (p.Thr496=) n.213+10125T>C | |
| 14 | g.61740760A>T | CA486957760 | HIF1A,HIF1A-AS3 | c.1665A>T (p.Thr555=) c.1668A>T (p.Thr556=) c.1737A>T (p.Thr579=) n.573A>T n.311A>T c.1488A>T (p.Thr496=) n.213+10125T>A | |
| 14 | g.61740761G>A | CA389927979 | HIF1A,HIF1A-AS3 | c.1666G>A (p.Asp556Asn) c.1669G>A (p.Asp557Asn) c.1738G>A (p.Asp580Asn) n.574G>A n.312G>A c.1489G>A (p.Asp497Asn) n.213+10124C>T | gnomAD v4 |
| 14 | g.61740761G>C | CA389927977 | HIF1A,HIF1A-AS3 | c.1666G>C (p.Asp556His) c.1669G>C (p.Asp557His) c.1738G>C (p.Asp580His) n.574G>C n.312G>C c.1489G>C (p.Asp497His) n.213+10124C>G | |
| 14 | g.61740761G>T | CA389927976 | HIF1A,HIF1A-AS3 | c.1666G>T (p.Asp556Tyr) c.1669G>T (p.Asp557Tyr) c.1738G>T (p.Asp580Tyr) n.574G>T n.312G>T c.1489G>T (p.Asp497Tyr) n.213+10124C>A | gnomAD v4 |
| 14 | g.61740762A>C | CA389927981 | HIF1A,HIF1A-AS3 | c.1667A>C (p.Asp556Ala) c.1670A>C (p.Asp557Ala) c.1739A>C (p.Asp580Ala) n.575A>C n.313A>C c.1490A>C (p.Asp497Ala) n.213+10123T>G | |
| 14 | g.61740762A>G | CA389927983 | HIF1A,HIF1A-AS3 | c.1667A>G (p.Asp556Gly) c.1670A>G (p.Asp557Gly) c.1739A>G (p.Asp580Gly) n.575A>G n.313A>G c.1490A>G (p.Asp497Gly) n.213+10123T>C | |
| 14 | g.61740762A>T | CA389927984 | HIF1A,HIF1A-AS3 | c.1667A>T (p.Asp556Val) c.1670A>T (p.Asp557Val) c.1739A>T (p.Asp580Val) n.575A>T n.313A>T c.1490A>T (p.Asp497Val) n.213+10123T>A | |
| 14 | g.61740763T>A | CA389927986 | HIF1A,HIF1A-AS3 | c.1668T>A (p.Asp556Glu) c.1671T>A (p.Asp557Glu) c.1740T>A (p.Asp580Glu) n.576T>A n.314T>A c.1491T>A (p.Asp497Glu) n.213+10122A>T | |
| 14 | g.61740763T>C | CA486957763 | HIF1A,HIF1A-AS3 | c.1668T>C (p.Asp556=) c.1671T>C (p.Asp557=) c.1740T>C (p.Asp580=) n.576T>C n.314T>C c.1491T>C (p.Asp497=) n.213+10122A>G | |
| 14 | g.61740763T>G | CA389927987 | HIF1A,HIF1A-AS3 | c.1668T>G (p.Asp556Glu) c.1671T>G (p.Asp557Glu) c.1740T>G (p.Asp580Glu) n.576T>G n.314T>G c.1491T>G (p.Asp497Glu) n.213+10122A>C | |
| 14 | g.61740764T>A | CA389927989 | HIF1A,HIF1A-AS3 | c.1669T>A (p.Leu557Ile) c.1672T>A (p.Leu558Ile) c.1741T>A (p.Leu581Ile) n.577T>A n.315T>A c.1492T>A (p.Leu498Ile) n.213+10121A>T | |
| 14 | g.61740764T>C | CA486957764 | HIF1A,HIF1A-AS3 | c.1669T>C (p.Leu557=) c.1672T>C (p.Leu558=) c.1741T>C (p.Leu581=) n.577T>C n.315T>C c.1492T>C (p.Leu498=) n.213+10121A>G | |
| 14 | g.61740764T>G | CA389927990 | HIF1A,HIF1A-AS3 | c.1669T>G (p.Leu557Val) c.1672T>G (p.Leu558Val) c.1741T>G (p.Leu581Val) n.577T>G n.315T>G c.1492T>G (p.Leu498Val) n.213+10121A>C | |
| 14 | g.61740765T>A | CA389927992 | HIF1A,HIF1A-AS3 | c.1670T>A (p.Leu557Ter) c.1673T>A (p.Leu558Ter) c.1742T>A (p.Leu581Ter) n.578T>A n.316T>A c.1493T>A (p.Leu498Ter) n.213+10120A>T | |
| 14 | g.61740765T>C | CA389927994 | HIF1A,HIF1A-AS3 | c.1670T>C (p.Leu557Ser) c.1673T>C (p.Leu558Ser) c.1742T>C (p.Leu581Ser) n.578T>C n.316T>C c.1493T>C (p.Leu498Ser) n.213+10120A>G | |
| 14 | g.61740765T>G | CA389927996 | HIF1A,HIF1A-AS3 | c.1670T>G (p.Leu557Ter) c.1673T>G (p.Leu558Ter) c.1742T>G (p.Leu581Ter) n.578T>G n.316T>G c.1493T>G (p.Leu498Ter) n.213+10120A>C | |
| 14 | g.61740766A>C | CA389927997 | HIF1A,HIF1A-AS3 | c.1671A>C (p.Leu557Phe) c.1674A>C (p.Leu558Phe) c.1743A>C (p.Leu581Phe) n.579A>C n.317A>C c.1494A>C (p.Leu498Phe) n.213+10119T>G | |
| 14 | g.61740766A>G | CA486957765 | HIF1A,HIF1A-AS3 | c.1671A>G (p.Leu557=) c.1674A>G (p.Leu558=) c.1743A>G (p.Leu581=) n.579A>G n.317A>G c.1494A>G (p.Leu498=) n.213+10119T>C | |
| 14 | g.61740766A>T | CA389927998 | HIF1A,HIF1A-AS3 | c.1671A>T (p.Leu557Phe) c.1674A>T (p.Leu558Phe) c.1743A>T (p.Leu581Phe) n.579A>T n.317A>T c.1494A>T (p.Leu498Phe) n.213+10119T>A | |
| 14 | g.61740767G>A | CA389928004 | HIF1A,HIF1A-AS3 | c.1672G>A (p.Asp558Asn) c.1675G>A (p.Asp559Asn) c.1744G>A (p.Asp582Asn) n.580G>A n.318G>A c.1495G>A (p.Asp499Asn) n.213+10118C>T | gnomAD v4 |
| 14 | g.61740767G>C | CA389928002 | HIF1A,HIF1A-AS3 | c.1672G>C (p.Asp558His) c.1675G>C (p.Asp559His) c.1744G>C (p.Asp582His) n.580G>C n.318G>C c.1495G>C (p.Asp499His) n.213+10118C>G | |
| 14 | g.61740767G>T | CA389928001 | HIF1A,HIF1A-AS3 | c.1672G>T (p.Asp558Tyr) c.1675G>T (p.Asp559Tyr) c.1744G>T (p.Asp582Tyr) n.580G>T n.318G>T c.1495G>T (p.Asp499Tyr) n.213+10118C>A | |
| 14 | g.61740768A>C | CA389928005 | HIF1A,HIF1A-AS3 | c.1673A>C (p.Asp558Ala) c.1676A>C (p.Asp559Ala) c.1745A>C (p.Asp582Ala) n.581A>C n.319A>C c.1496A>C (p.Asp499Ala) n.213+10117T>G | |
| 14 | g.61740768A>G | CA389928009 | HIF1A,HIF1A-AS3 | c.1673A>G (p.Asp558Gly) c.1676A>G (p.Asp559Gly) c.1745A>G (p.Asp582Gly) n.581A>G n.319A>G c.1496A>G (p.Asp499Gly) n.213+10117T>C | |
| 14 | g.61740768A>T | CA389928007 | HIF1A,HIF1A-AS3 | c.1673A>T (p.Asp558Val) c.1676A>T (p.Asp559Val) c.1745A>T (p.Asp582Val) n.581A>T n.319A>T c.1496A>T (p.Asp499Val) n.213+10117T>A | |
| 14 | g.61740769C>A | CA389928010 | HIF1A,HIF1A-AS3 | c.1674C>A (p.Asp558Glu) c.1677C>A (p.Asp559Glu) c.1746C>A (p.Asp582Glu) n.582C>A n.320C>A c.1497C>A (p.Asp499Glu) n.213+10116G>T | |
| 14 | g.61740769C>G | CA389928012 | HIF1A,HIF1A-AS3 | c.1674C>G (p.Asp558Glu) c.1677C>G (p.Asp559Glu) c.1746C>G (p.Asp582Glu) n.582C>G n.320C>G c.1497C>G (p.Asp499Glu) n.213+10116G>C | |
| 14 | g.61740769C>T | CA486957768 | HIF1A,HIF1A-AS3 | c.1674C>T (p.Asp558=) c.1677C>T (p.Asp559=) c.1746C>T (p.Asp582=) n.582C>T n.320C>T c.1497C>T (p.Asp499=) n.213+10116G>A | |
| 14 | g.61740770T>A | CA389928014 | HIF1A,HIF1A-AS3 | c.1675T>A (p.Leu559Met) c.1678T>A (p.Leu560Met) c.1747T>A (p.Leu583Met) n.583T>A n.321T>A c.1498T>A (p.Leu500Met) n.213+10115A>T | |
| 14 | g.61740770T>C | CA7215991 | HIF1A,HIF1A-AS3 | c.1675T>C (p.Leu559=) c.1678T>C (p.Leu560=) c.1747T>C (p.Leu583=) n.583T>C n.321T>C c.1498T>C (p.Leu500=) n.213+10115A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.61740770T>G | CA389928016 | HIF1A,HIF1A-AS3 | c.1675T>G (p.Leu559Val) c.1678T>G (p.Leu560Val) c.1747T>G (p.Leu583Val) n.583T>G n.321T>G c.1498T>G (p.Leu500Val) n.213+10115A>C | |
| 14 | g.61740770T= | CA2141395847 | HIF1A,HIF1A-AS3 | c.1675T= (p.Leu559=) c.1678T= (p.Leu560=) c.1747T= (p.Leu583=) n.583T= n.321T= c.1498T= (p.Leu500=) n.213+10115A= | |
| 14 | g.61740771T>A | CA389928018 | HIF1A,HIF1A-AS3 | c.1676T>A (p.Leu559Ter) c.1679T>A (p.Leu560Ter) c.1748T>A (p.Leu583Ter) n.584T>A n.322T>A c.1499T>A (p.Leu500Ter) n.213+10114A>T | |
| 14 | g.61740771T>C | CA389928020 | HIF1A,HIF1A-AS3 | c.1676T>C (p.Leu559Ser) c.1679T>C (p.Leu560Ser) c.1748T>C (p.Leu583Ser) n.584T>C n.322T>C c.1499T>C (p.Leu500Ser) n.213+10114A>G | |
| 14 | g.61740771T>G | CA389928022 | HIF1A,HIF1A-AS3 | c.1676T>G (p.Leu559Trp) c.1679T>G (p.Leu560Trp) c.1748T>G (p.Leu583Trp) n.584T>G n.322T>G c.1499T>G (p.Leu500Trp) n.213+10114A>C | |
| 14 | g.61740772G>A | CA486957770 | HIF1A,HIF1A-AS3 | c.1677G>A (p.Leu559=) c.1680G>A (p.Leu560=) c.1749G>A (p.Leu583=) n.585G>A n.323G>A c.1500G>A (p.Leu500=) n.213+10113C>T | |
| 14 | g.61740772G>C | CA389928023 | HIF1A,HIF1A-AS3 | c.1677G>C (p.Leu559Phe) c.1680G>C (p.Leu560Phe) c.1749G>C (p.Leu583Phe) n.585G>C n.323G>C c.1500G>C (p.Leu500Phe) n.213+10113C>G | |
| 14 | g.61740772G>T | CA389928025 | HIF1A,HIF1A-AS3 | c.1677G>T (p.Leu559Phe) c.1680G>T (p.Leu560Phe) c.1749G>T (p.Leu583Phe) n.585G>T n.323G>T c.1500G>T (p.Leu500Phe) n.213+10113C>A |