Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.61741030C>ACA486957709HIF1A,HIF1A-AS3c.1935C>A (p.Thr645=)
c.1938C>A (p.Thr646=)
c.2007C>A (p.Thr669=)
n.581C>A
c.1758C>A (p.Thr586=)
n.213+9855G>T
14g.61741030C=CA2141396265HIF1A,HIF1A-AS3c.1935C= (p.Thr645=)
c.1938C= (p.Thr646=)
c.2007C= (p.Thr669=)
n.581C=
c.1758C= (p.Thr586=)
n.213+9855G=
14g.61741030C>GCA486957710HIF1A,HIF1A-AS3c.1935C>G (p.Thr645=)
c.1938C>G (p.Thr646=)
c.2007C>G (p.Thr669=)
n.581C>G
c.1758C>G (p.Thr586=)
n.213+9855G>C
 dbSNP gnomAD v2 gnomAD v4
14g.61741030C>TCA7216034HIF1A,HIF1A-AS3c.1935C>T (p.Thr645=)
c.1938C>T (p.Thr646=)
c.2007C>T (p.Thr669=)
n.581C>T
c.1758C>T (p.Thr586=)
n.213+9855G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741031C>ACA389928954HIF1A,HIF1A-AS3c.1936C>A (p.His646Asn)
c.1939C>A (p.His647Asn)
c.2008C>A (p.His670Asn)
n.582C>A
c.1759C>A (p.His587Asn)
n.213+9854G>T
14g.61741031C>GCA389928955HIF1A,HIF1A-AS3c.1936C>G (p.His646Asp)
c.1939C>G (p.His647Asp)
c.2008C>G (p.His670Asp)
n.582C>G
c.1759C>G (p.His587Asp)
n.213+9854G>C
14g.61741031C>TCA389928957HIF1A,HIF1A-AS3c.1936C>T (p.His646Tyr)
c.1939C>T (p.His647Tyr)
c.2008C>T (p.His670Tyr)
n.582C>T
c.1759C>T (p.His587Tyr)
n.213+9854G>A
14g.61741032A=CA2141396268HIF1A,HIF1A-AS3c.1937A= (p.His646=)
c.1940A= (p.His647=)
c.2009A= (p.His670=)
n.583A=
c.1760A= (p.His587=)
n.213+9853T=
14g.61741032A>CCA389928962HIF1A,HIF1A-AS3c.1937A>C (p.His646Pro)
c.1940A>C (p.His647Pro)
c.2009A>C (p.His670Pro)
n.583A>C
c.1760A>C (p.His587Pro)
n.213+9853T>G
 dbSNP
14g.61741032A>GCA389928961HIF1A,HIF1A-AS3c.1937A>G (p.His646Arg)
c.1940A>G (p.His647Arg)
c.2009A>G (p.His670Arg)
n.583A>G
c.1760A>G (p.His587Arg)
n.213+9853T>C
14g.61741032A>TCA389928959HIF1A,HIF1A-AS3c.1937A>T (p.His646Leu)
c.1940A>T (p.His647Leu)
c.2009A>T (p.His670Leu)
n.583A>T
c.1760A>T (p.His587Leu)
n.213+9853T>A
14g.61741037_61741040delCA2625160574HIF1A,HIF1A-AS3c.1942_1945del (p.His648LysfsTer29)
c.1945_1948del (p.His649LysfsTer29)
c.2014_2017del (p.His672LysfsTer29)
n.588_591del
c.1765_1768del (p.His589LysfsTer29)
n.213+9850_213+9853del
 gnomAD v4
14g.61741033C>ACA389928964HIF1A,HIF1A-AS3c.1938C>A (p.His646Gln)
c.1941C>A (p.His647Gln)
c.2010C>A (p.His670Gln)
n.584C>A
c.1761C>A (p.His587Gln)
n.213+9852G>T
 dbSNP gnomAD v2 gnomAD v4
14g.61741033C=CA2141396271HIF1A,HIF1A-AS3c.1938C= (p.His646=)
c.1941C= (p.His647=)
c.2010C= (p.His670=)
n.584C=
c.1761C= (p.His587=)
n.213+9852G=
14g.61741033C>GCA389928967HIF1A,HIF1A-AS3c.1938C>G (p.His646Gln)
c.1941C>G (p.His647Gln)
c.2010C>G (p.His670Gln)
n.584C>G
c.1761C>G (p.His587Gln)
n.213+9852G>C
14g.61741033C>TCA7216035HIF1A,HIF1A-AS3c.1938C>T (p.His646=)
c.1941C>T (p.His647=)
c.2010C>T (p.His670=)
n.584C>T
c.1761C>T (p.His587=)
n.213+9852G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.61741034delCA2625160575HIF1A,HIF1A-AS3c.1939del (p.Ile647TyrfsTer?)
c.1942del (p.Ile648TyrfsTer?)
c.2011del (p.Ile671TyrfsTer?)
n.585del
c.1762del (p.Ile588TyrfsTer?)
n.213+9851del
 gnomAD v4
14g.61741034A>CCA389928969HIF1A,HIF1A-AS3c.1939A>C (p.Ile647Leu)
c.1942A>C (p.Ile648Leu)
c.2011A>C (p.Ile671Leu)
n.585A>C
c.1762A>C (p.Ile588Leu)
n.213+9851T>G
14g.61741034A>GCA389928972HIF1A,HIF1A-AS3c.1939A>G (p.Ile647Val)
c.1942A>G (p.Ile648Val)
c.2011A>G (p.Ile671Val)
n.585A>G
c.1762A>G (p.Ile588Val)
n.213+9851T>C
 gnomAD v4
14g.61741034A>TCA389928970HIF1A,HIF1A-AS3c.1939A>T (p.Ile647Leu)
c.1942A>T (p.Ile648Leu)
c.2011A>T (p.Ile671Leu)
n.585A>T
c.1762A>T (p.Ile588Leu)
n.213+9851T>A
14g.61741035T>ACA389928973HIF1A,HIF1A-AS3c.1940T>A (p.Ile647Lys)
c.1943T>A (p.Ile648Lys)
c.2012T>A (p.Ile671Lys)
n.586T>A
c.1763T>A (p.Ile588Lys)
n.213+9850A>T
14g.61741035T>CCA389928976HIF1A,HIF1A-AS3c.1940T>C (p.Ile647Thr)
c.1943T>C (p.Ile648Thr)
c.2012T>C (p.Ile671Thr)
n.586T>C
c.1763T>C (p.Ile588Thr)
n.213+9850A>G
 dbSNP gnomAD v2 gnomAD v4
14g.61741035T>GCA389928974HIF1A,HIF1A-AS3c.1940T>G (p.Ile647Arg)
c.1943T>G (p.Ile648Arg)
c.2012T>G (p.Ile671Arg)
n.586T>G
c.1763T>G (p.Ile588Arg)
n.213+9850A>C
14g.61741035T=CA2141396275HIF1A,HIF1A-AS3c.1940T= (p.Ile647=)
c.1943T= (p.Ile648=)
c.2012T= (p.Ile671=)
n.586T=
c.1763T= (p.Ile588=)
n.213+9850A=
14g.61741036A>CCA486957711HIF1A,HIF1A-AS3c.1941A>C (p.Ile647=)
c.1944A>C (p.Ile648=)
c.2013A>C (p.Ile671=)
n.587A>C
c.1764A>C (p.Ile588=)
n.213+9849T>G
 gnomAD v4
14g.61741036A>GCA389928977HIF1A,HIF1A-AS3c.1941A>G (p.Ile647Met)
c.1944A>G (p.Ile648Met)
c.2013A>G (p.Ile671Met)
n.587A>G
c.1764A>G (p.Ile588Met)
n.213+9849T>C
14g.61741036A>TCA486957712HIF1A,HIF1A-AS3c.1941A>T (p.Ile647=)
c.1944A>T (p.Ile648=)
c.2013A>T (p.Ile671=)
n.587A>T
c.1764A>T (p.Ile588=)
n.213+9849T>A
14g.61741037C>ACA389928981HIF1A,HIF1A-AS3c.1942C>A (p.His648Asn)
c.1945C>A (p.His649Asn)
c.2014C>A (p.His672Asn)
n.588C>A
c.1765C>A (p.His589Asn)
n.213+9848G>T
14g.61741037C=CA2141396280HIF1A,HIF1A-AS3c.1942C= (p.His648=)
c.1945C= (p.His649=)
c.2014C= (p.His672=)
n.588C=
c.1765C= (p.His589=)
n.213+9848G=
14g.61741037C>GCA389928979HIF1A,HIF1A-AS3c.1942C>G (p.His648Asp)
c.1945C>G (p.His649Asp)
c.2014C>G (p.His672Asp)
n.588C>G
c.1765C>G (p.His589Asp)
n.213+9848G>C
14g.61741037C>TCA7216036HIF1A,HIF1A-AS3c.1942C>T (p.His648Tyr)
c.1945C>T (p.His649Tyr)
c.2014C>T (p.His672Tyr)
n.588C>T
c.1765C>T (p.His589Tyr)
n.213+9848G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741038A>CCA389928982HIF1A,HIF1A-AS3c.1943A>C (p.His648Pro)
c.1946A>C (p.His649Pro)
c.2015A>C (p.His672Pro)
n.589A>C
c.1766A>C (p.His589Pro)
n.213+9847T>G
14g.61741038A>GCA389928984HIF1A,HIF1A-AS3c.1943A>G (p.His648Arg)
c.1946A>G (p.His649Arg)
c.2015A>G (p.His672Arg)
n.589A>G
c.1766A>G (p.His589Arg)
n.213+9847T>C
 gnomAD v4
14g.61741038A>TCA389928986HIF1A,HIF1A-AS3c.1943A>T (p.His648Leu)
c.1946A>T (p.His649Leu)
c.2015A>T (p.His672Leu)
n.589A>T
c.1766A>T (p.His589Leu)
n.213+9847T>A
14g.61741039T>ACA389928988HIF1A,HIF1A-AS3c.1944T>A (p.His648Gln)
c.1947T>A (p.His649Gln)
c.2016T>A (p.His672Gln)
n.590T>A
c.1767T>A (p.His589Gln)
n.213+9846A>T
14g.61741039T>CCA486957713HIF1A,HIF1A-AS3c.1944T>C (p.His648=)
c.1947T>C (p.His649=)
c.2016T>C (p.His672=)
n.590T>C
c.1767T>C (p.His589=)
n.213+9846A>G
14g.61741039T>GCA389928989HIF1A,HIF1A-AS3c.1944T>G (p.His648Gln)
c.1947T>G (p.His649Gln)
c.2016T>G (p.His672Gln)
n.590T>G
c.1767T>G (p.His589Gln)
n.213+9846A>C
14g.61741040A=CA2141396282HIF1A,HIF1A-AS3c.1945A= (p.Lys649=)
c.1948A= (p.Lys650=)
c.2017A= (p.Lys673=)
n.591A=
c.1768A= (p.Lys590=)
n.213+9845T=
14g.61741040A>CCA389928991HIF1A,HIF1A-AS3c.1945A>C (p.Lys649Gln)
c.1948A>C (p.Lys650Gln)
c.2017A>C (p.Lys673Gln)
n.591A>C
c.1768A>C (p.Lys590Gln)
n.213+9845T>G
14g.61741040A>GCA7216037HIF1A,HIF1A-AS3c.1945A>G (p.Lys649Glu)
c.1948A>G (p.Lys650Glu)
c.2017A>G (p.Lys673Glu)
n.591A>G
c.1768A>G (p.Lys590Glu)
n.213+9845T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741040A>TCA389928994HIF1A,HIF1A-AS3c.1945A>T (p.Lys649Ter)
c.1948A>T (p.Lys650Ter)
c.2017A>T (p.Lys673Ter)
n.591A>T
c.1768A>T (p.Lys590Ter)
n.213+9845T>A
14g.61741043_61741046delCA2625160576HIF1A,HIF1A-AS3c.1948_1951del (p.Glu650LeufsTer27)
c.1951_1954del (p.Glu651LeufsTer27)
c.2020_2023del (p.Glu674LeufsTer27)
n.594_597del
c.1771_1774del (p.Glu591LeufsTer27)
n.213+9842_213+9845del
 gnomAD v4
14g.61741041A=CA2141396285HIF1A,HIF1A-AS3c.1946A= (p.Lys649=)
c.1949A= (p.Lys650=)
c.2018A= (p.Lys673=)
n.592A=
c.1769A= (p.Lys590=)
n.213+9844T=
14g.61741041A>CCA389928996HIF1A,HIF1A-AS3c.1946A>C (p.Lys649Thr)
c.1949A>C (p.Lys650Thr)
c.2018A>C (p.Lys673Thr)
n.592A>C
c.1769A>C (p.Lys590Thr)
n.213+9844T>G
14g.61741041A>GCA7216038HIF1A,HIF1A-AS3c.1946A>G (p.Lys649Arg)
c.1949A>G (p.Lys650Arg)
c.2018A>G (p.Lys673Arg)
n.592A>G
c.1769A>G (p.Lys590Arg)
n.213+9844T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741041A>TCA389928997HIF1A,HIF1A-AS3c.1946A>T (p.Lys649Ile)
c.1949A>T (p.Lys650Ile)
c.2018A>T (p.Lys673Ile)
n.592A>T
c.1769A>T (p.Lys590Ile)
n.213+9844T>A
14g.61741042A>CCA389928999HIF1A,HIF1A-AS3c.1947A>C (p.Lys649Asn)
c.1950A>C (p.Lys650Asn)
c.2019A>C (p.Lys673Asn)
n.593A>C
c.1770A>C (p.Lys590Asn)
n.213+9843T>G
14g.61741042A>GCA486957714HIF1A,HIF1A-AS3c.1947A>G (p.Lys649=)
c.1950A>G (p.Lys650=)
c.2019A>G (p.Lys673=)
n.593A>G
c.1770A>G (p.Lys590=)
n.213+9843T>C
14g.61741042A>TCA389929000HIF1A,HIF1A-AS3c.1947A>T (p.Lys649Asn)
c.1950A>T (p.Lys650Asn)
c.2019A>T (p.Lys673Asn)
n.593A>T
c.1770A>T (p.Lys590Asn)
n.213+9843T>A
14g.61741043G>ACA389929001HIF1A,HIF1A-AS3c.1948G>A (p.Glu650Lys)
c.1951G>A (p.Glu651Lys)
c.2020G>A (p.Glu674Lys)
n.594G>A
c.1771G>A (p.Glu591Lys)
n.213+9842C>T
14g.61741043G>CCA389929002HIF1A,HIF1A-AS3c.1948G>C (p.Glu650Gln)
c.1951G>C (p.Glu651Gln)
c.2020G>C (p.Glu674Gln)
n.594G>C
c.1771G>C (p.Glu591Gln)
n.213+9842C>G
14g.61741043G>TCA389929003HIF1A,HIF1A-AS3c.1948G>T (p.Glu650Ter)
c.1951G>T (p.Glu651Ter)
c.2020G>T (p.Glu674Ter)
n.594G>T
c.1771G>T (p.Glu591Ter)
n.213+9842C>A
14g.61741044A=CA2141396287HIF1A,HIF1A-AS3c.1949A= (p.Glu650=)
c.1952A= (p.Glu651=)
c.2021A= (p.Glu674=)
n.595A=
c.1772A= (p.Glu591=)
n.213+9841T=
14g.61741044A>CCA389929004HIF1A,HIF1A-AS3c.1949A>C (p.Glu650Ala)
c.1952A>C (p.Glu651Ala)
c.2021A>C (p.Glu674Ala)
n.595A>C
c.1772A>C (p.Glu591Ala)
n.213+9841T>G
14g.61741044A>GCA7216039HIF1A,HIF1A-AS3c.1949A>G (p.Glu650Gly)
c.1952A>G (p.Glu651Gly)
c.2021A>G (p.Glu674Gly)
n.595A>G
c.1772A>G (p.Glu591Gly)
n.213+9841T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741044A>TCA389929006HIF1A,HIF1A-AS3c.1949A>T (p.Glu650Val)
c.1952A>T (p.Glu651Val)
c.2021A>T (p.Glu674Val)
n.595A>T
c.1772A>T (p.Glu591Val)
n.213+9841T>A
14g.61741045A>CCA389929008HIF1A,HIF1A-AS3c.1950A>C (p.Glu650Asp)
c.1953A>C (p.Glu651Asp)
c.2022A>C (p.Glu674Asp)
n.596A>C
c.1773A>C (p.Glu591Asp)
n.213+9840T>G
14g.61741045A>GCA486957715HIF1A,HIF1A-AS3c.1950A>G (p.Glu650=)
c.1953A>G (p.Glu651=)
c.2022A>G (p.Glu674=)
n.596A>G
c.1773A>G (p.Glu591=)
n.213+9840T>C
14g.61741045A>TCA389929009HIF1A,HIF1A-AS3c.1950A>T (p.Glu650Asp)
c.1953A>T (p.Glu651Asp)
c.2022A>T (p.Glu674Asp)
n.596A>T
c.1773A>T (p.Glu591Asp)
n.213+9840T>A
14g.61741046A>CCA389929010HIF1A,HIF1A-AS3c.1951A>C (p.Thr651Pro)
c.1954A>C (p.Thr652Pro)
c.2023A>C (p.Thr675Pro)
n.597A>C
c.1774A>C (p.Thr592Pro)
n.213+9839T>G
14g.61741046A>GCA389929012HIF1A,HIF1A-AS3c.1951A>G (p.Thr651Ala)
c.1954A>G (p.Thr652Ala)
c.2023A>G (p.Thr675Ala)
n.597A>G
c.1774A>G (p.Thr592Ala)
n.213+9839T>C
14g.61741046A>TCA389929013HIF1A,HIF1A-AS3c.1951A>T (p.Thr651Ser)
c.1954A>T (p.Thr652Ser)
c.2023A>T (p.Thr675Ser)
n.597A>T
c.1774A>T (p.Thr592Ser)
n.213+9839T>A
14g.61741047C>ACA389929018HIF1A,HIF1A-AS3c.1952C>A (p.Thr651Asn)
c.1955C>A (p.Thr652Asn)
c.2024C>A (p.Thr675Asn)
n.598C>A
c.1775C>A (p.Thr592Asn)
n.213+9838G>T
14g.61741047C>GCA389929016HIF1A,HIF1A-AS3c.1952C>G (p.Thr651Ser)
c.1955C>G (p.Thr652Ser)
c.2024C>G (p.Thr675Ser)
n.598C>G
c.1775C>G (p.Thr592Ser)
n.213+9838G>C
 gnomAD v4
14g.61741047C>TCA389929015HIF1A,HIF1A-AS3c.1952C>T (p.Thr651Ile)
c.1955C>T (p.Thr652Ile)
c.2024C>T (p.Thr675Ile)
n.598C>T
c.1775C>T (p.Thr592Ile)
n.213+9838G>A
14g.61741048T>ACA486957716HIF1A,HIF1A-AS3c.1953T>A (p.Thr651=)
c.1956T>A (p.Thr652=)
c.2025T>A (p.Thr675=)
n.599T>A
c.1776T>A (p.Thr592=)
n.213+9837A>T
14g.61741048T>CCA486957717HIF1A,HIF1A-AS3c.1953T>C (p.Thr651=)
c.1956T>C (p.Thr652=)
c.2025T>C (p.Thr675=)
n.599T>C
c.1776T>C (p.Thr592=)
n.213+9837A>G
 dbSNP
14g.61741048T>GCA486957718HIF1A,HIF1A-AS3c.1953T>G (p.Thr651=)
c.1956T>G (p.Thr652=)
c.2025T>G (p.Thr675=)
n.599T>G
c.1776T>G (p.Thr592=)
n.213+9837A>C
14g.61741048T=CA2141396290HIF1A,HIF1A-AS3c.1953T= (p.Thr651=)
c.1956T= (p.Thr652=)
c.2025T= (p.Thr675=)
n.599T=
c.1776T= (p.Thr592=)
n.213+9837A=
14g.61741049A=CA2141396293HIF1A,HIF1A-AS3c.1954A= (p.Thr652=)
c.1957A= (p.Thr653=)
c.2026A= (p.Thr676=)
n.600A=
c.1777A= (p.Thr593=)
n.213+9836T=
14g.61741049A>CCA389929019HIF1A,HIF1A-AS3c.1954A>C (p.Thr652Pro)
c.1957A>C (p.Thr653Pro)
c.2026A>C (p.Thr676Pro)
n.600A>C
c.1777A>C (p.Thr593Pro)
n.213+9836T>G
14g.61741049A>GCA261777992HIF1A,HIF1A-AS3c.1954A>G (p.Thr652Ala)
c.1957A>G (p.Thr653Ala)
c.2026A>G (p.Thr676Ala)
n.600A>G
c.1777A>G (p.Thr593Ala)
n.213+9836T>C
 dbSNP gnomAD v3 gnomAD v4
14g.61741049A>TCA389929022HIF1A,HIF1A-AS3c.1954A>T (p.Thr652Ser)
c.1957A>T (p.Thr653Ser)
c.2026A>T (p.Thr676Ser)
n.600A>T
c.1777A>T (p.Thr593Ser)
n.213+9836T>A
 gnomAD v4
14g.61741050C>ACA389929023HIF1A,HIF1A-AS3c.1955C>A (p.Thr652Asn)
c.1958C>A (p.Thr653Asn)
c.2027C>A (p.Thr676Asn)
n.601C>A
c.1778C>A (p.Thr593Asn)
n.213+9835G>T
14g.61741050C=CA2141396296HIF1A,HIF1A-AS3c.1955C= (p.Thr652=)
c.1958C= (p.Thr653=)
c.2027C= (p.Thr676=)
n.601C=
c.1778C= (p.Thr593=)
n.213+9835G=
14g.61741050C>GCA389929025HIF1A,HIF1A-AS3c.1955C>G (p.Thr652Ser)
c.1958C>G (p.Thr653Ser)
c.2027C>G (p.Thr676Ser)
n.601C>G
c.1778C>G (p.Thr593Ser)
n.213+9835G>C
14g.61741050C>TCA7216040HIF1A,HIF1A-AS3c.1955C>T (p.Thr652Ile)
c.1958C>T (p.Thr653Ile)
c.2027C>T (p.Thr676Ile)
n.601C>T
c.1778C>T (p.Thr593Ile)
n.213+9835G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741051T>ACA486957719HIF1A,HIF1A-AS3c.1956T>A (p.Thr652=)
c.1959T>A (p.Thr653=)
c.2028T>A (p.Thr676=)
n.602T>A
c.1779T>A (p.Thr593=)
n.213+9834A>T
14g.61741051T>CCA486957720HIF1A,HIF1A-AS3c.1956T>C (p.Thr652=)
c.1959T>C (p.Thr653=)
c.2028T>C (p.Thr676=)
n.602T>C
c.1779T>C (p.Thr593=)
n.213+9834A>G
14g.61741051T>GCA486957721HIF1A,HIF1A-AS3c.1956T>G (p.Thr652=)
c.1959T>G (p.Thr653=)
c.2028T>G (p.Thr676=)
n.602T>G
c.1779T>G (p.Thr593=)
n.213+9834A>C
14g.61741052A>CCA389929027HIF1A,HIF1A-AS3c.1957A>C (p.Ser653Arg)
c.1960A>C (p.Ser654Arg)
c.2029A>C (p.Ser677Arg)
n.603A>C
c.1780A>C (p.Ser594Arg)
n.213+9833T>G
14g.61741052A>GCA389929028HIF1A,HIF1A-AS3c.1957A>G (p.Ser653Gly)
c.1960A>G (p.Ser654Gly)
c.2029A>G (p.Ser677Gly)
n.603A>G
c.1780A>G (p.Ser594Gly)
n.213+9833T>C
14g.61741052A>TCA389929029HIF1A,HIF1A-AS3c.1957A>T (p.Ser653Cys)
c.1960A>T (p.Ser654Cys)
c.2029A>T (p.Ser677Cys)
n.603A>T
c.1780A>T (p.Ser594Cys)
n.213+9833T>A
14g.61741053G>ACA389929031HIF1A,HIF1A-AS3c.1958G>A (p.Ser653Asn)
c.1961G>A (p.Ser654Asn)
c.2030G>A (p.Ser677Asn)
n.604G>A
c.1781G>A (p.Ser594Asn)
n.213+9832C>T
14g.61741053G>CCA7216041HIF1A,HIF1A-AS3c.1958G>C (p.Ser653Thr)
c.1961G>C (p.Ser654Thr)
c.2030G>C (p.Ser677Thr)
n.604G>C
c.1781G>C (p.Ser594Thr)
n.213+9832C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741053G=CA2141396300HIF1A,HIF1A-AS3c.1958G= (p.Ser653=)
c.1961G= (p.Ser654=)
c.2030G= (p.Ser677=)
n.604G=
c.1781G= (p.Ser594=)
n.213+9832C=
14g.61741053G>TCA389929033HIF1A,HIF1A-AS3c.1958G>T (p.Ser653Ile)
c.1961G>T (p.Ser654Ile)
c.2030G>T (p.Ser677Ile)
n.604G>T
c.1781G>T (p.Ser594Ile)
n.213+9832C>A
14g.61741054T>ACA389929036HIF1A,HIF1A-AS3c.1959T>A (p.Ser653Arg)
c.1962T>A (p.Ser654Arg)
c.2031T>A (p.Ser677Arg)
n.605T>A
c.1782T>A (p.Ser594Arg)
n.213+9831A>T
14g.61741054T>CCA486957722HIF1A,HIF1A-AS3c.1959T>C (p.Ser653=)
c.1962T>C (p.Ser654=)
c.2031T>C (p.Ser677=)
n.605T>C
c.1782T>C (p.Ser594=)
n.213+9831A>G
14g.61741054T>GCA389929034HIF1A,HIF1A-AS3c.1959T>G (p.Ser653Arg)
c.1962T>G (p.Ser654Arg)
c.2031T>G (p.Ser677Arg)
n.605T>G
c.1782T>G (p.Ser594Arg)
n.213+9831A>C
14g.61741055G>ACA389929038HIF1A,HIF1A-AS3c.1960G>A (p.Ala654Thr)
c.1963G>A (p.Ala655Thr)
c.2032G>A (p.Ala678Thr)
n.606G>A
c.1783G>A (p.Ala595Thr)
n.213+9830C>T
14g.61741055G>CCA389929040HIF1A,HIF1A-AS3c.1960G>C (p.Ala654Pro)
c.1963G>C (p.Ala655Pro)
c.2032G>C (p.Ala678Pro)
n.606G>C
c.1783G>C (p.Ala595Pro)
n.213+9830C>G
14g.61741055G>TCA389929041HIF1A,HIF1A-AS3c.1960G>T (p.Ala654Ser)
c.1963G>T (p.Ala655Ser)
c.2032G>T (p.Ala678Ser)
n.606G>T
c.1783G>T (p.Ala595Ser)
n.213+9830C>A
14g.61741056C>ACA389929042HIF1A,HIF1A-AS3c.1961C>A (p.Ala654Asp)
c.1964C>A (p.Ala655Asp)
c.2033C>A (p.Ala678Asp)
n.607C>A
c.1784C>A (p.Ala595Asp)
n.213+9829G>T
14g.61741056C=CA2141396304HIF1A,HIF1A-AS3c.1961C= (p.Ala654=)
c.1964C= (p.Ala655=)
c.2033C= (p.Ala678=)
n.607C=
c.1784C= (p.Ala595=)
n.213+9829G=
14g.61741056C>GCA389929043HIF1A,HIF1A-AS3c.1961C>G (p.Ala654Gly)
c.1964C>G (p.Ala655Gly)
c.2033C>G (p.Ala678Gly)
n.607C>G
c.1784C>G (p.Ala595Gly)
n.213+9829G>C
14g.61741056C>TCA389929044HIF1A,HIF1A-AS3c.1961C>T (p.Ala654Val)
c.1964C>T (p.Ala655Val)
c.2033C>T (p.Ala678Val)
n.607C>T
c.1784C>T (p.Ala595Val)
n.213+9829G>A
 ClinVar dbSNP gnomAD v4
14g.61741057C>ACA486957723HIF1A,HIF1A-AS3c.1962C>A (p.Ala654=)
c.1965C>A (p.Ala655=)
c.2034C>A (p.Ala678=)
n.608C>A
c.1785C>A (p.Ala595=)
n.213+9828G>T
14g.61741057C=CA2141396308HIF1A,HIF1A-AS3c.1962C= (p.Ala654=)
c.1965C= (p.Ala655=)
c.2034C= (p.Ala678=)
n.608C=
c.1785C= (p.Ala595=)
n.213+9828G=
14g.61741057C>GCA486957724HIF1A,HIF1A-AS3c.1962C>G (p.Ala654=)
c.1965C>G (p.Ala655=)
c.2034C>G (p.Ala678=)
n.608C>G
c.1785C>G (p.Ala595=)
n.213+9828G>C
14g.61741057C>TCA486957725HIF1A,HIF1A-AS3c.1962C>T (p.Ala654=)
c.1965C>T (p.Ala655=)
c.2034C>T (p.Ala678=)
n.608C>T
c.1785C>T (p.Ala595=)
n.213+9828G>A
 dbSNP
14g.61741058A>CCA389929046HIF1A,HIF1A-AS3c.1963A>C (p.Thr655Pro)
c.1966A>C (p.Thr656Pro)
c.2035A>C (p.Thr679Pro)
n.609A>C
c.1786A>C (p.Thr596Pro)
n.213+9827T>G
14g.61741058A>GCA389929048HIF1A,HIF1A-AS3c.1963A>G (p.Thr655Ala)
c.1966A>G (p.Thr656Ala)
c.2035A>G (p.Thr679Ala)
n.609A>G
c.1786A>G (p.Thr596Ala)
n.213+9827T>C
14g.61741058A>TCA389929049HIF1A,HIF1A-AS3c.1963A>T (p.Thr655Ser)
c.1966A>T (p.Thr656Ser)
c.2035A>T (p.Thr679Ser)
n.609A>T
c.1786A>T (p.Thr596Ser)
n.213+9827T>A
14g.61741058_61741061delinsACATCA2141396311HIF1A,HIF1A-AS3c.1963_1966delinsACAT (p.Thr655=)
c.1966_1969delinsACAT (p.Thr656=)
c.2035_2038delinsACAT (p.Thr679=)
n.609_612delinsACAT
c.1786_1789delinsACAT (p.Thr596=)
n.213+9824_213+9827delinsATGT
14g.61741059C>ACA389929051HIF1A,HIF1A-AS3c.1964C>A (p.Thr655Lys)
c.1967C>A (p.Thr656Lys)
c.2036C>A (p.Thr679Lys)
n.610C>A
c.1787C>A (p.Thr596Lys)
n.213+9826G>T
14g.61741059C>GCA389929052HIF1A,HIF1A-AS3c.1964C>G (p.Thr655Arg)
c.1967C>G (p.Thr656Arg)
c.2036C>G (p.Thr679Arg)
n.610C>G
c.1787C>G (p.Thr596Arg)
n.213+9826G>C
14g.61741059C>TCA389929054HIF1A,HIF1A-AS3c.1964C>T (p.Thr655Ile)
c.1967C>T (p.Thr656Ile)
c.2036C>T (p.Thr679Ile)
n.610C>T
c.1787C>T (p.Thr596Ile)
n.213+9826G>A
 ClinVar
14g.61741064_61741066delCA614734435HIF1A,HIF1A-AS3c.1969_1971del (p.Ser657del)
c.1972_1974del (p.Ser658del)
c.2041_2043del (p.Ser681del)
n.615_617del
c.1792_1794del (p.Ser598del)
n.213+9824_213+9826del
 dbSNP gnomAD v2 gnomAD v4
14g.61741060A>CCA486957728HIF1A,HIF1A-AS3c.1965A>C (p.Thr655=)
c.1968A>C (p.Thr656=)
c.2037A>C (p.Thr679=)
n.611A>C
c.1788A>C (p.Thr596=)
n.213+9825T>G
14g.61741060A>GCA486957726HIF1A,HIF1A-AS3c.1965A>G (p.Thr655=)
c.1968A>G (p.Thr656=)
c.2037A>G (p.Thr679=)
n.611A>G
c.1788A>G (p.Thr596=)
n.213+9825T>C
 gnomAD v4
14g.61741060A>TCA486957727HIF1A,HIF1A-AS3c.1965A>T (p.Thr655=)
c.1968A>T (p.Thr656=)
c.2037A>T (p.Thr679=)
n.611A>T
c.1788A>T (p.Thr596=)
n.213+9825T>A
14g.61741061T>ACA389929059HIF1A,HIF1A-AS3c.1966T>A (p.Ser656Thr)
c.1969T>A (p.Ser657Thr)
c.2038T>A (p.Ser680Thr)
n.612T>A
c.1789T>A (p.Ser597Thr)
n.213+9824A>T
14g.61741061T>CCA389929058HIF1A,HIF1A-AS3c.1966T>C (p.Ser656Pro)
c.1969T>C (p.Ser657Pro)
c.2038T>C (p.Ser680Pro)
n.612T>C
c.1789T>C (p.Ser597Pro)
n.213+9824A>G
 dbSNP gnomAD v3 gnomAD v4
14g.61741061T>GCA389929056HIF1A,HIF1A-AS3c.1966T>G (p.Ser656Ala)
c.1969T>G (p.Ser657Ala)
c.2038T>G (p.Ser680Ala)
n.612T>G
c.1789T>G (p.Ser597Ala)
n.213+9824A>C
14g.61741061T=CA2141396317HIF1A,HIF1A-AS3c.1966T= (p.Ser656=)
c.1969T= (p.Ser657=)
c.2038T= (p.Ser680=)
n.612T=
c.1789T= (p.Ser597=)
n.213+9824A=
14g.61741062C>ACA389929061HIF1A,HIF1A-AS3c.1967C>A (p.Ser656Ter)
c.1970C>A (p.Ser657Ter)
c.2039C>A (p.Ser680Ter)
n.613C>A
c.1790C>A (p.Ser597Ter)
n.213+9823G>T
14g.61741062C>GCA389929065HIF1A,HIF1A-AS3c.1967C>G (p.Ser656Ter)
c.1970C>G (p.Ser657Ter)
c.2039C>G (p.Ser680Ter)
n.613C>G
c.1790C>G (p.Ser597Ter)
n.213+9823G>C
14g.61741062C>TCA389929063HIF1A,HIF1A-AS3c.1967C>T (p.Ser656Leu)
c.1970C>T (p.Ser657Leu)
c.2039C>T (p.Ser680Leu)
n.613C>T
c.1790C>T (p.Ser597Leu)
n.213+9823G>A
 gnomAD v4
14g.61741063A>CCA486957729HIF1A,HIF1A-AS3c.1968A>C (p.Ser656=)
c.1971A>C (p.Ser657=)
c.2040A>C (p.Ser680=)
n.614A>C
c.1791A>C (p.Ser597=)
n.213+9822T>G
14g.61741063A>GCA486957730HIF1A,HIF1A-AS3c.1968A>G (p.Ser656=)
c.1971A>G (p.Ser657=)
c.2040A>G (p.Ser680=)
n.614A>G
c.1791A>G (p.Ser597=)
n.213+9822T>C
14g.61741063A>TCA486957731HIF1A,HIF1A-AS3c.1968A>T (p.Ser656=)
c.1971A>T (p.Ser657=)
c.2040A>T (p.Ser680=)
n.614A>T
c.1791A>T (p.Ser597=)
n.213+9822T>A
14g.61741064T>ACA389929066HIF1A,HIF1A-AS3c.1969T>A (p.Ser657Thr)
c.1972T>A (p.Ser658Thr)
c.2041T>A (p.Ser681Thr)
n.615T>A
c.1792T>A (p.Ser598Thr)
n.213+9821A>T
 gnomAD v3 gnomAD v4
14g.61741064T>CCA389929067HIF1A,HIF1A-AS3c.1969T>C (p.Ser657Pro)
c.1972T>C (p.Ser658Pro)
c.2041T>C (p.Ser681Pro)
n.615T>C
c.1792T>C (p.Ser598Pro)
n.213+9821A>G
 gnomAD v4
14g.61741064T>GCA389929069HIF1A,HIF1A-AS3c.1969T>G (p.Ser657Ala)
c.1972T>G (p.Ser658Ala)
c.2041T>G (p.Ser681Ala)
n.615T>G
c.1792T>G (p.Ser598Ala)
n.213+9821A>C
14g.61741065C>ACA389929070HIF1A,HIF1A-AS3c.1970C>A (p.Ser657Ter)
c.1973C>A (p.Ser658Ter)
c.2042C>A (p.Ser681Ter)
n.616C>A
c.1793C>A (p.Ser598Ter)
n.213+9820G>T
14g.61741065C=CA2141396321HIF1A,HIF1A-AS3c.1970C= (p.Ser657=)
c.1973C= (p.Ser658=)
c.2042C= (p.Ser681=)
n.616C=
c.1793C= (p.Ser598=)
n.213+9820G=
14g.61741065C>GCA389929072HIF1A,HIF1A-AS3c.1970C>G (p.Ser657Ter)
c.1973C>G (p.Ser658Ter)
c.2042C>G (p.Ser681Ter)
n.616C>G
c.1793C>G (p.Ser598Ter)
n.213+9820G>C
14g.61741065C>TCA389929073HIF1A,HIF1A-AS3c.1970C>T (p.Ser657Leu)
c.1973C>T (p.Ser658Leu)
c.2042C>T (p.Ser681Leu)
n.616C>T
c.1793C>T (p.Ser598Leu)
n.213+9820G>A
 dbSNP gnomAD v3 gnomAD v4
14g.61741066A=CA2141396326HIF1A,HIF1A-AS3c.1971A= (p.Ser657=)
c.1974A= (p.Ser658=)
c.2043A= (p.Ser681=)
n.617A=
c.1794A= (p.Ser598=)
n.213+9819T=
14g.61741066A>CCA486957732HIF1A,HIF1A-AS3c.1971A>C (p.Ser657=)
c.1974A>C (p.Ser658=)
c.2043A>C (p.Ser681=)
n.617A>C
c.1794A>C (p.Ser598=)
n.213+9819T>G
14g.61741066A>GCA261778009HIF1A,HIF1A-AS3c.1971A>G (p.Ser657=)
c.1974A>G (p.Ser658=)
c.2043A>G (p.Ser681=)
n.617A>G
c.1794A>G (p.Ser598=)
n.213+9819T>C
 dbSNP gnomAD v4
14g.61741066A>TCA486957733HIF1A,HIF1A-AS3c.1971A>T (p.Ser657=)
c.1974A>T (p.Ser658=)
c.2043A>T (p.Ser681=)
n.617A>T
c.1794A>T (p.Ser598=)
n.213+9819T>A
14g.61741067C>ACA7216042HIF1A,HIF1A-AS3c.1972C>A (p.Pro658Thr)
c.1975C>A (p.Pro659Thr)
c.2044C>A (p.Pro682Thr)
n.618C>A
c.1795C>A (p.Pro599Thr)
n.213+9818G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741067C=CA2141396330HIF1A,HIF1A-AS3c.1972C= (p.Pro658=)
c.1975C= (p.Pro659=)
c.2044C= (p.Pro682=)
n.618C=
c.1795C= (p.Pro599=)
n.213+9818G=
14g.61741067C>GCA389929076HIF1A,HIF1A-AS3c.1972C>G (p.Pro658Ala)
c.1975C>G (p.Pro659Ala)
c.2044C>G (p.Pro682Ala)
n.618C>G
c.1795C>G (p.Pro599Ala)
n.213+9818G>C
 gnomAD v4
14g.61741067C>TCA389929077HIF1A,HIF1A-AS3c.1972C>T (p.Pro658Ser)
c.1975C>T (p.Pro659Ser)
c.2044C>T (p.Pro682Ser)
n.618C>T
c.1795C>T (p.Pro599Ser)
n.213+9818G>A
 dbSNP gnomAD v2 gnomAD v4
14g.61741068C>ACA389929079HIF1A,HIF1A-AS3c.1973C>A (p.Pro658Gln)
c.1976C>A (p.Pro659Gln)
c.2045C>A (p.Pro682Gln)
n.619C>A
c.1796C>A (p.Pro599Gln)
n.213+9817G>T
14g.61741068C=CA2141396334HIF1A,HIF1A-AS3c.1973C= (p.Pro658=)
c.1976C= (p.Pro659=)
c.2045C= (p.Pro682=)
n.619C=
c.1796C= (p.Pro599=)
n.213+9817G=
14g.61741068C>GCA389929081HIF1A,HIF1A-AS3c.1973C>G (p.Pro658Arg)
c.1976C>G (p.Pro659Arg)
c.2045C>G (p.Pro682Arg)
n.619C>G
c.1796C>G (p.Pro599Arg)
n.213+9817G>C
14g.61741068C>TCA389929082HIF1A,HIF1A-AS3c.1973C>T (p.Pro658Leu)
c.1976C>T (p.Pro659Leu)
c.2045C>T (p.Pro682Leu)
n.619C>T
c.1796C>T (p.Pro599Leu)
n.213+9817G>A
 dbSNP gnomAD v4
14g.61741069A>CCA486957734HIF1A,HIF1A-AS3c.1974A>C (p.Pro658=)
c.1977A>C (p.Pro659=)
c.2046A>C (p.Pro682=)
n.620A>C
c.1797A>C (p.Pro599=)
n.213+9816T>G
14g.61741069A>GCA486957735HIF1A,HIF1A-AS3c.1974A>G (p.Pro658=)
c.1977A>G (p.Pro659=)
c.2046A>G (p.Pro682=)
n.620A>G
c.1797A>G (p.Pro599=)
n.213+9816T>C
 gnomAD v4
14g.61741069A>TCA486957736HIF1A,HIF1A-AS3c.1974A>T (p.Pro658=)
c.1977A>T (p.Pro659=)
c.2046A>T (p.Pro682=)
n.620A>T
c.1797A>T (p.Pro599=)
n.213+9816T>A
14g.61741070T>ACA7216043HIF1A,HIF1A-AS3c.1975T>A (p.Tyr659Asn)
c.1978T>A (p.Tyr660Asn)
c.2047T>A (p.Tyr683Asn)
n.621T>A
c.1798T>A (p.Tyr600Asn)
n.213+9815A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741070T>CCA261778039HIF1A,HIF1A-AS3c.1975T>C (p.Tyr659His)
c.1978T>C (p.Tyr660His)
c.2047T>C (p.Tyr683His)
n.621T>C
c.1798T>C (p.Tyr600His)
n.213+9815A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.61741070T>GCA389929083HIF1A,HIF1A-AS3c.1975T>G (p.Tyr659Asp)
c.1978T>G (p.Tyr660Asp)
c.2047T>G (p.Tyr683Asp)
n.621T>G
c.1798T>G (p.Tyr600Asp)
n.213+9815A>C
14g.61741070T=CA2141396338HIF1A,HIF1A-AS3c.1975T= (p.Tyr659=)
c.1978T= (p.Tyr660=)
c.2047T= (p.Tyr683=)
n.621T=
c.1798T= (p.Tyr600=)
n.213+9815A=
14g.61741071A=CA2141396341HIF1A,HIF1A-AS3c.1976A= (p.Tyr659=)
c.1979A= (p.Tyr660=)
c.2048A= (p.Tyr683=)
n.622A=
c.1799A= (p.Tyr600=)
n.213+9814T=
14g.61741071A>CCA389929085HIF1A,HIF1A-AS3c.1976A>C (p.Tyr659Ser)
c.1979A>C (p.Tyr660Ser)
c.2048A>C (p.Tyr683Ser)
n.622A>C
c.1799A>C (p.Tyr600Ser)
n.213+9814T>G
14g.61741071A>GCA389929087HIF1A,HIF1A-AS3c.1976A>G (p.Tyr659Cys)
c.1979A>G (p.Tyr660Cys)
c.2048A>G (p.Tyr683Cys)
n.622A>G
c.1799A>G (p.Tyr600Cys)
n.213+9814T>C
 dbSNP gnomAD v3 gnomAD v4
14g.61741071A>TCA389929089HIF1A,HIF1A-AS3c.1976A>T (p.Tyr659Phe)
c.1979A>T (p.Tyr660Phe)
c.2048A>T (p.Tyr683Phe)
n.622A>T
c.1799A>T (p.Tyr600Phe)
n.213+9814T>A
14g.61741072T>ACA389929090HIF1A,HIF1A-AS3c.1977T>A (p.Tyr659Ter)
c.1980T>A (p.Tyr660Ter)
c.2049T>A (p.Tyr683Ter)
n.623T>A
c.1800T>A (p.Tyr600Ter)
n.213+9813A>T
14g.61741072T>CCA486957737HIF1A,HIF1A-AS3c.1977T>C (p.Tyr659=)
c.1980T>C (p.Tyr660=)
c.2049T>C (p.Tyr683=)
n.623T>C
c.1800T>C (p.Tyr600=)
n.213+9813A>G
 dbSNP gnomAD v4
14g.61741072T>GCA389929092HIF1A,HIF1A-AS3c.1977T>G (p.Tyr659Ter)
c.1980T>G (p.Tyr660Ter)
c.2049T>G (p.Tyr683Ter)
n.623T>G
c.1800T>G (p.Tyr600Ter)
n.213+9813A>C
14g.61741072T=CA2141396344HIF1A,HIF1A-AS3c.1977T= (p.Tyr659=)
c.1980T= (p.Tyr660=)
c.2049T= (p.Tyr683=)
n.623T=
c.1800T= (p.Tyr600=)
n.213+9813A=
14g.61741073A=CA2141396346HIF1A,HIF1A-AS3c.1978A= (p.Arg660=)
c.1981A= (p.Arg661=)
c.2050A= (p.Arg684=)
n.624A=
c.1801A= (p.Arg601=)
n.213+9812T=
14g.61741073A>CCA486957738HIF1A,HIF1A-AS3c.1978A>C (p.Arg660=)
c.1981A>C (p.Arg661=)
c.2050A>C (p.Arg684=)
n.624A>C
c.1801A>C (p.Arg601=)
n.213+9812T>G
14g.61741073A>GCA389929094HIF1A,HIF1A-AS3c.1978A>G (p.Arg660Gly)
c.1981A>G (p.Arg661Gly)
c.2050A>G (p.Arg684Gly)
n.624A>G
c.1801A>G (p.Arg601Gly)
n.213+9812T>C
14g.61741073A>TCA389929096HIF1A,HIF1A-AS3c.1978A>T (p.Arg660Ter)
c.1981A>T (p.Arg661Ter)
c.2050A>T (p.Arg684Ter)
n.624A>T
c.1801A>T (p.Arg601Ter)
n.213+9812T>A
14g.61741074G>ACA389929097HIF1A,HIF1A-AS3c.1979G>A (p.Arg660Lys)
c.1982G>A (p.Arg661Lys)
c.2051G>A (p.Arg684Lys)
n.625G>A
c.1802G>A (p.Arg601Lys)
n.213+9811C>T
14g.61741074G>CCA389929098HIF1A,HIF1A-AS3c.1979G>C (p.Arg660Thr)
c.1982G>C (p.Arg661Thr)
c.2051G>C (p.Arg684Thr)
n.625G>C
c.1802G>C (p.Arg601Thr)
n.213+9811C>G
 gnomAD v4
14g.61741074G>TCA389929100HIF1A,HIF1A-AS3c.1979G>T (p.Arg660Ile)
c.1982G>T (p.Arg661Ile)
c.2051G>T (p.Arg684Ile)
n.625G>T
c.1802G>T (p.Arg601Ile)
n.213+9811C>A
14g.61741074_61741076dupCA2141396348HIF1A,HIF1A-AS3c.1979_1981dup (p.Arg660_Asp661insGly)
c.1982_1984dup (p.Arg661_Asp662insGly)
c.2051_2053dup (p.Arg684_Asp685insGly)
n.625_627dup
c.1802_1804dup (p.Arg601_Asp602insGly)
n.213+9809_213+9811dup
 dbSNP
14g.61741075A=CA2141396352HIF1A,HIF1A-AS3c.1980A= (p.Arg660=)
c.1983A= (p.Arg661=)
c.2052A= (p.Arg684=)
n.626A=
c.1803A= (p.Arg601=)
n.213+9810T=
14g.61741075A>CCA389929104HIF1A,HIF1A-AS3c.1980A>C (p.Arg660Ser)
c.1983A>C (p.Arg661Ser)
c.2052A>C (p.Arg684Ser)
n.626A>C
c.1803A>C (p.Arg601Ser)
n.213+9810T>G
14g.61741075A>GCA7216044HIF1A,HIF1A-AS3c.1980A>G (p.Arg660=)
c.1983A>G (p.Arg661=)
c.2052A>G (p.Arg684=)
n.626A>G
c.1803A>G (p.Arg601=)
n.213+9810T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61741075A>TCA389929103HIF1A,HIF1A-AS3c.1980A>T (p.Arg660Ser)
c.1983A>T (p.Arg661Ser)
c.2052A>T (p.Arg684Ser)
n.626A>T
c.1803A>T (p.Arg601Ser)
n.213+9810T>A
14g.61741076G>ACA389929107HIF1A,HIF1A-AS3c.1981G>A (p.Asp661Asn)
c.1984G>A (p.Asp662Asn)
c.2053G>A (p.Asp685Asn)
n.627G>A
c.1804G>A (p.Asp602Asn)
n.213+9809C>T
14g.61741076G>CCA389929108HIF1A,HIF1A-AS3c.1981G>C (p.Asp661His)
c.1984G>C (p.Asp662His)
c.2053G>C (p.Asp685His)
n.627G>C
c.1804G>C (p.Asp602His)
n.213+9809C>G
14g.61741076G=CA2141396356HIF1A,HIF1A-AS3c.1981G= (p.Asp661=)
c.1984G= (p.Asp662=)
c.2053G= (p.Asp685=)
n.627G=
c.1804G= (p.Asp602=)
n.213+9809C=
14g.61741076G>TCA389929110HIF1A,HIF1A-AS3c.1981G>T (p.Asp661Tyr)
c.1984G>T (p.Asp662Tyr)
c.2053G>T (p.Asp685Tyr)
n.627G>T
c.1804G>T (p.Asp602Tyr)
n.213+9809C>A
 dbSNP gnomAD v3 gnomAD v4
14g.61741077A>CCA389929111HIF1A,HIF1A-AS3c.1982A>C (p.Asp661Ala)
c.1985A>C (p.Asp662Ala)
c.2054A>C (p.Asp685Ala)
n.628A>C
c.1805A>C (p.Asp602Ala)
n.213+9808T>G
14g.61741077A>GCA389929113HIF1A,HIF1A-AS3c.1982A>G (p.Asp661Gly)
c.1985A>G (p.Asp662Gly)
c.2054A>G (p.Asp685Gly)
n.628A>G
c.1805A>G (p.Asp602Gly)
n.213+9808T>C
 gnomAD v4
14g.61741077A>TCA389929114HIF1A,HIF1A-AS3c.1982A>T (p.Asp661Val)
c.1985A>T (p.Asp662Val)
c.2054A>T (p.Asp685Val)
n.628A>T
c.1805A>T (p.Asp602Val)
n.213+9808T>A
14g.61741078T>ACA389929118HIF1A,HIF1A-AS3c.1983T>A (p.Asp661Glu)
c.1986T>A (p.Asp662Glu)
c.2055T>A (p.Asp685Glu)
n.629T>A
c.1806T>A (p.Asp602Glu)
n.213+9807A>T
14g.61741078T>CCA486957739HIF1A,HIF1A-AS3c.1983T>C (p.Asp661=)
c.1986T>C (p.Asp662=)
c.2055T>C (p.Asp685=)
n.629T>C
c.1806T>C (p.Asp602=)
n.213+9807A>G
 dbSNP gnomAD v3 gnomAD v4
14g.61741078T>GCA389929116HIF1A,HIF1A-AS3c.1983T>G (p.Asp661Glu)
c.1986T>G (p.Asp662Glu)
c.2055T>G (p.Asp685Glu)
n.629T>G
c.1806T>G (p.Asp602Glu)
n.213+9807A>C
14g.61741078T=CA2141396359HIF1A,HIF1A-AS3c.1983T= (p.Asp661=)
c.1986T= (p.Asp662=)
c.2055T= (p.Asp685=)
n.629T=
c.1806T= (p.Asp602=)
n.213+9807A=
14g.61741079A>CCA389929119HIF1A,HIF1A-AS3c.1984A>C (p.Thr662Pro)
c.1987A>C (p.Thr663Pro)
c.2056A>C (p.Thr686Pro)
n.630A>C
c.1807A>C (p.Thr603Pro)
n.213+9806T>G
14g.61741079A>GCA389929120HIF1A,HIF1A-AS3c.1984A>G (p.Thr662Ala)
c.1987A>G (p.Thr663Ala)
c.2056A>G (p.Thr686Ala)
n.630A>G
c.1807A>G (p.Thr603Ala)
n.213+9806T>C
14g.61741079A>TCA389929122HIF1A,HIF1A-AS3c.1984A>T (p.Thr662Ser)
c.1987A>T (p.Thr663Ser)
c.2056A>T (p.Thr686Ser)
n.630A>T
c.1807A>T (p.Thr603Ser)
n.213+9806T>A
14g.61741080C>ACA389929124HIF1A,HIF1A-AS3c.1985C>A (p.Thr662Asn)
c.1988C>A (p.Thr663Asn)
c.2057C>A (p.Thr686Asn)
n.631C>A
c.1808C>A (p.Thr603Asn)
n.213+9805G>T
 dbSNP gnomAD v4
14g.61741080C=CA2141396364HIF1A,HIF1A-AS3c.1985C= (p.Thr662=)
c.1988C= (p.Thr663=)
c.2057C= (p.Thr686=)
n.631C=
c.1808C= (p.Thr603=)
n.213+9805G=
14g.61741080C>GCA389929126HIF1A,HIF1A-AS3c.1985C>G (p.Thr662Ser)
c.1988C>G (p.Thr663Ser)
c.2057C>G (p.Thr686Ser)
n.631C>G
c.1808C>G (p.Thr603Ser)
n.213+9805G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.61741080C>TCA261778054HIF1A,HIF1A-AS3c.1985C>T (p.Thr662Ile)
c.1988C>T (p.Thr663Ile)
c.2057C>T (p.Thr686Ile)
n.631C>T
c.1808C>T (p.Thr603Ile)
n.213+9805G>A
 dbSNP gnomAD v3 gnomAD v4
14g.61741081T>ACA486957741HIF1A,HIF1A-AS3c.1986T>A (p.Thr662=)
c.1989T>A (p.Thr663=)
c.2058T>A (p.Thr686=)
n.632T>A
c.1809T>A (p.Thr603=)
n.213+9804A>T
14g.61741081T>CCA486957740HIF1A,HIF1A-AS3c.1986T>C (p.Thr662=)
c.1989T>C (p.Thr663=)
c.2058T>C (p.Thr686=)
n.632T>C
c.1809T>C (p.Thr603=)
n.213+9804A>G
14g.61741081T>GCA486957742HIF1A,HIF1A-AS3c.1986T>G (p.Thr662=)
c.1989T>G (p.Thr663=)
c.2058T>G (p.Thr686=)
n.632T>G
c.1809T>G (p.Thr603=)
n.213+9804A>C
14g.61741082C>ACA389929128HIF1A,HIF1A-AS3c.1987C>A (p.Gln663Lys)
c.1990C>A (p.Gln664Lys)
c.2059C>A (p.Gln687Lys)
n.633C>A
c.1810C>A (p.Gln604Lys)
n.213+9803G>T
 gnomAD v4
14g.61741082C=CA2141396369HIF1A,HIF1A-AS3c.1987C= (p.Gln663=)
c.1990C= (p.Gln664=)
c.2059C= (p.Gln687=)
n.633C=
c.1810C= (p.Gln604=)
n.213+9803G=
14g.61741082C>GCA389929129HIF1A,HIF1A-AS3c.1987C>G (p.Gln663Glu)
c.1990C>G (p.Gln664Glu)
c.2059C>G (p.Gln687Glu)
n.633C>G
c.1810C>G (p.Gln604Glu)
n.213+9803G>C
14g.61741082C>TCA7216045HIF1A,HIF1A-AS3c.1987C>T (p.Gln663Ter)
c.1990C>T (p.Gln664Ter)
c.2059C>T (p.Gln687Ter)
n.633C>T
c.1810C>T (p.Gln604Ter)
n.213+9803G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741083A>CCA389929131HIF1A,HIF1A-AS3c.1988A>C (p.Gln663Pro)
c.1991A>C (p.Gln664Pro)
c.2060A>C (p.Gln687Pro)
n.634A>C
c.1811A>C (p.Gln604Pro)
n.213+9802T>G
14g.61741083A>GCA389929133HIF1A,HIF1A-AS3c.1988A>G (p.Gln663Arg)
c.1991A>G (p.Gln664Arg)
c.2060A>G (p.Gln687Arg)
n.634A>G
c.1811A>G (p.Gln604Arg)
n.213+9802T>C
14g.61741083A>TCA389929134HIF1A,HIF1A-AS3c.1988A>T (p.Gln663Leu)
c.1991A>T (p.Gln664Leu)
c.2060A>T (p.Gln687Leu)
n.634A>T
c.1811A>T (p.Gln604Leu)
n.213+9802T>A
14g.61741084A>CCA389929135HIF1A,HIF1A-AS3c.1989A>C (p.Gln663His)
c.1992A>C (p.Gln664His)
c.2061A>C (p.Gln687His)
n.635A>C
c.1812A>C (p.Gln604His)
n.213+9801T>G
14g.61741084A>GCA486957743HIF1A,HIF1A-AS3c.1989A>G (p.Gln663=)
c.1992A>G (p.Gln664=)
c.2061A>G (p.Gln687=)
n.635A>G
c.1812A>G (p.Gln604=)
n.213+9801T>C
 gnomAD v4
14g.61741084A>TCA389929136HIF1A,HIF1A-AS3c.1989A>T (p.Gln663His)
c.1992A>T (p.Gln664His)
c.2061A>T (p.Gln687His)
n.635A>T
c.1812A>T (p.Gln604His)
n.213+9801T>A
14g.61741085A>CCA389929137HIF1A,HIF1A-AS3c.1990A>C (p.Ser664Arg)
c.1993A>C (p.Ser665Arg)
c.2062A>C (p.Ser688Arg)
n.636A>C
c.1813A>C (p.Ser605Arg)
n.213+9800T>G
14g.61741085A>GCA389929139HIF1A,HIF1A-AS3c.1990A>G (p.Ser664Gly)
c.1993A>G (p.Ser665Gly)
c.2062A>G (p.Ser688Gly)
n.636A>G
c.1813A>G (p.Ser605Gly)
n.213+9800T>C
14g.61741085A>TCA389929140HIF1A,HIF1A-AS3c.1990A>T (p.Ser664Cys)
c.1993A>T (p.Ser665Cys)
c.2062A>T (p.Ser688Cys)
n.636A>T
c.1813A>T (p.Ser605Cys)
n.213+9800T>A
14g.61741086G>ACA389929141HIF1A,HIF1A-AS3c.1991G>A (p.Ser664Asn)
c.1994G>A (p.Ser665Asn)
c.2063G>A (p.Ser688Asn)
n.637G>A
c.1814G>A (p.Ser605Asn)
n.213+9799C>T
 dbSNP gnomAD v3 gnomAD v4
14g.61741086G>CCA389929143HIF1A,HIF1A-AS3c.1991G>C (p.Ser664Thr)
c.1994G>C (p.Ser665Thr)
c.2063G>C (p.Ser688Thr)
n.637G>C
c.1814G>C (p.Ser605Thr)
n.213+9799C>G
14g.61741086G=CA2141396375HIF1A,HIF1A-AS3c.1991G= (p.Ser664=)
c.1994G= (p.Ser665=)
c.2063G= (p.Ser688=)
n.637G=
c.1814G= (p.Ser605=)
n.213+9799C=
14g.61741086G>TCA389929145HIF1A,HIF1A-AS3c.1991G>T (p.Ser664Ile)
c.1994G>T (p.Ser665Ile)
c.2063G>T (p.Ser688Ile)
n.637G>T
c.1814G>T (p.Ser605Ile)
n.213+9799C>A
14g.61741087T>ACA389929146HIF1A,HIF1A-AS3c.1992T>A (p.Ser664Arg)
c.1995T>A (p.Ser665Arg)
c.2064T>A (p.Ser688Arg)
n.638T>A
c.1815T>A (p.Ser605Arg)
n.213+9798A>T
14g.61741087T>CCA486957744HIF1A,HIF1A-AS3c.1992T>C (p.Ser664=)
c.1995T>C (p.Ser665=)
c.2064T>C (p.Ser688=)
n.638T>C
c.1815T>C (p.Ser605=)
n.213+9798A>G
14g.61741087T>GCA389929147HIF1A,HIF1A-AS3c.1992T>G (p.Ser664Arg)
c.1995T>G (p.Ser665Arg)
c.2064T>G (p.Ser688Arg)
n.638T>G
c.1815T>G (p.Ser605Arg)
n.213+9798A>C
14g.61741088C>ACA486957745HIF1A,HIF1A-AS3c.1993C>A (p.Arg665=)
c.1996C>A (p.Arg666=)
c.2065C>A (p.Arg689=)
n.639C>A
c.1816C>A (p.Arg606=)
n.213+9797G>T
14g.61741088C=CA2141396381HIF1A,HIF1A-AS3c.1993C= (p.Arg665=)
c.1996C= (p.Arg666=)
c.2065C= (p.Arg689=)
n.639C=
c.1816C= (p.Arg606=)
n.213+9797G=
14g.61741088C>GCA389929149HIF1A,HIF1A-AS3c.1993C>G (p.Arg665Gly)
c.1996C>G (p.Arg666Gly)
c.2065C>G (p.Arg689Gly)
n.639C>G
c.1816C>G (p.Arg606Gly)
n.213+9797G>C
14g.61741088C>TCA7216046HIF1A,HIF1A-AS3c.1993C>T (p.Arg665Trp)
c.1996C>T (p.Arg666Trp)
c.2065C>T (p.Arg689Trp)
n.639C>T
c.1816C>T (p.Arg606Trp)
n.213+9797G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741089G>ACA389929152HIF1A,HIF1A-AS3c.1994G>A (p.Arg665Gln)
c.1997G>A (p.Arg666Gln)
c.2066G>A (p.Arg689Gln)
n.640G>A
c.1817G>A (p.Arg606Gln)
n.213+9796C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.61741089G>CCA389929153HIF1A,HIF1A-AS3c.1994G>C (p.Arg665Pro)
c.1997G>C (p.Arg666Pro)
c.2066G>C (p.Arg689Pro)
n.640G>C
c.1817G>C (p.Arg606Pro)
n.213+9796C>G
14g.61741089G=CA2141396384HIF1A,HIF1A-AS3c.1994G= (p.Arg665=)
c.1997G= (p.Arg666=)
c.2066G= (p.Arg689=)
n.640G=
c.1817G= (p.Arg606=)
n.213+9796C=
14g.61741089G>TCA389929155HIF1A,HIF1A-AS3c.1994G>T (p.Arg665Leu)
c.1997G>T (p.Arg666Leu)
c.2066G>T (p.Arg689Leu)
n.640G>T
c.1817G>T (p.Arg606Leu)
n.213+9796C>A
14g.61741090G>ACA486957746HIF1A,HIF1A-AS3c.1995G>A (p.Arg665=)
c.1998G>A (p.Arg666=)
c.2067G>A (p.Arg689=)
n.641G>A
c.1818G>A (p.Arg606=)
n.213+9795C>T
14g.61741090G>CCA486957747HIF1A,HIF1A-AS3c.1995G>C (p.Arg665=)
c.1998G>C (p.Arg666=)
c.2067G>C (p.Arg689=)
n.641G>C
c.1818G>C (p.Arg606=)
n.213+9795C>G
14g.61741090G>TCA486957748HIF1A,HIF1A-AS3c.1995G>T (p.Arg665=)
c.1998G>T (p.Arg666=)
c.2067G>T (p.Arg689=)
n.641G>T
c.1818G>T (p.Arg606=)
n.213+9795C>A
14g.61741091A>CCA389929157HIF1A,HIF1A-AS3c.1996A>C (p.Thr666Pro)
c.1999A>C (p.Thr667Pro)
c.2068A>C (p.Thr690Pro)
n.642A>C
c.1819A>C (p.Thr607Pro)
n.213+9794T>G
14g.61741091A>GCA389929158HIF1A,HIF1A-AS3c.1996A>G (p.Thr666Ala)
c.1999A>G (p.Thr667Ala)
c.2068A>G (p.Thr690Ala)
n.642A>G
c.1819A>G (p.Thr607Ala)
n.213+9794T>C
14g.61741091A>TCA389929159HIF1A,HIF1A-AS3c.1996A>T (p.Thr666Ser)
c.1999A>T (p.Thr667Ser)
c.2068A>T (p.Thr690Ser)
n.642A>T
c.1819A>T (p.Thr607Ser)
n.213+9794T>A
 COSMIC
14g.61741092C>ACA389929161HIF1A,HIF1A-AS3c.1997C>A (p.Thr666Lys)
c.2000C>A (p.Thr667Lys)
c.2069C>A (p.Thr690Lys)
n.643C>A
c.1820C>A (p.Thr607Lys)
n.213+9793G>T
14g.61741092C>GCA389929162HIF1A,HIF1A-AS3c.1997C>G (p.Thr666Arg)
c.2000C>G (p.Thr667Arg)
c.2069C>G (p.Thr690Arg)
n.643C>G
c.1820C>G (p.Thr607Arg)
n.213+9793G>C
 gnomAD v4
14g.61741092C>TCA389929164HIF1A,HIF1A-AS3c.1997C>T (p.Thr666Ile)
c.2000C>T (p.Thr667Ile)
c.2069C>T (p.Thr690Ile)
n.643C>T
c.1820C>T (p.Thr607Ile)
n.213+9793G>A
 gnomAD v4
14g.61741093A>CCA486957749HIF1A,HIF1A-AS3c.1998A>C (p.Thr666=)
c.2001A>C (p.Thr667=)
c.2070A>C (p.Thr690=)
n.644A>C
c.1821A>C (p.Thr607=)
n.213+9792T>G
14g.61741093A>GCA486957750HIF1A,HIF1A-AS3c.1998A>G (p.Thr666=)
c.2001A>G (p.Thr667=)
c.2070A>G (p.Thr690=)
n.644A>G
c.1821A>G (p.Thr607=)
n.213+9792T>C
14g.61741093A>TCA486957751HIF1A,HIF1A-AS3c.1998A>T (p.Thr666=)
c.2001A>T (p.Thr667=)
c.2070A>T (p.Thr690=)
n.644A>T
c.1821A>T (p.Thr607=)
n.213+9792T>A
14g.61741094G>ACA389929166HIF1A,HIF1A-AS3c.1999G>A (p.Ala667Thr)
c.2002G>A (p.Ala668Thr)
c.2071G>A (p.Ala691Thr)
n.645G>A
c.1822G>A (p.Ala608Thr)
n.213+9791C>T
14g.61741094G>CCA389929167HIF1A,HIF1A-AS3c.1999G>C (p.Ala667Pro)
c.2002G>C (p.Ala668Pro)
c.2071G>C (p.Ala691Pro)
n.645G>C
c.1822G>C (p.Ala608Pro)
n.213+9791C>G
14g.61741094G>TCA389929168HIF1A,HIF1A-AS3c.1999G>T (p.Ala667Ser)
c.2002G>T (p.Ala668Ser)
c.2071G>T (p.Ala691Ser)
n.645G>T
c.1822G>T (p.Ala608Ser)
n.213+9791C>A
14g.61741095C>ACA389929174HIF1A,HIF1A-AS3c.2000C>A (p.Ala667Asp)
c.2003C>A (p.Ala668Asp)
c.2072C>A (p.Ala691Asp)
n.646C>A
c.1823C>A (p.Ala608Asp)
n.213+9790G>T
14g.61741095C>GCA389929172HIF1A,HIF1A-AS3c.2000C>G (p.Ala667Gly)
c.2003C>G (p.Ala668Gly)
c.2072C>G (p.Ala691Gly)
n.646C>G
c.1823C>G (p.Ala608Gly)
n.213+9790G>C
14g.61741095C>TCA389929170HIF1A,HIF1A-AS3c.2000C>T (p.Ala667Val)
c.2003C>T (p.Ala668Val)
c.2072C>T (p.Ala691Val)
n.646C>T
c.1823C>T (p.Ala608Val)
n.213+9790G>A
 gnomAD v4
14g.61741096C>ACA486957752HIF1A,HIF1A-AS3c.2001C>A (p.Ala667=)
c.2004C>A (p.Ala668=)
c.2073C>A (p.Ala691=)
n.647C>A
c.1824C>A (p.Ala608=)
n.213+9789G>T
14g.61741096C=CA2141396388HIF1A,HIF1A-AS3c.2001C= (p.Ala667=)
c.2004C= (p.Ala668=)
c.2073C= (p.Ala691=)
n.647C=
c.1824C= (p.Ala608=)
n.213+9789G=
14g.61741096C>GCA486957753HIF1A,HIF1A-AS3c.2001C>G (p.Ala667=)
c.2004C>G (p.Ala668=)
c.2073C>G (p.Ala691=)
n.647C>G
c.1824C>G (p.Ala608=)
n.213+9789G>C
14g.61741096C>TCA486957754HIF1A,HIF1A-AS3c.2001C>T (p.Ala667=)
c.2004C>T (p.Ala668=)
c.2073C>T (p.Ala691=)
n.647C>T
c.1824C>T (p.Ala608=)
n.213+9789G>A
 dbSNP gnomAD v2 gnomAD v4
14g.61741097T>ACA389929175HIF1A,HIF1A-AS3c.2002T>A (p.Ser668Thr)
c.2005T>A (p.Ser669Thr)
c.2074T>A (p.Ser692Thr)
n.648T>A
c.1825T>A (p.Ser609Thr)
n.213+9788A>T
14g.61741097T>CCA389929176HIF1A,HIF1A-AS3c.2002T>C (p.Ser668Pro)
c.2005T>C (p.Ser669Pro)
c.2074T>C (p.Ser692Pro)
n.648T>C
c.1825T>C (p.Ser609Pro)
n.213+9788A>G
 gnomAD v4
14g.61741097T>GCA389929178HIF1A,HIF1A-AS3c.2002T>G (p.Ser668Ala)
c.2005T>G (p.Ser669Ala)
c.2074T>G (p.Ser692Ala)
n.648T>G
c.1825T>G (p.Ser609Ala)
n.213+9788A>C
14g.61741098C>ACA389929180HIF1A,HIF1A-AS3c.2003C>A (p.Ser668Ter)
c.2006C>A (p.Ser669Ter)
c.2075C>A (p.Ser692Ter)
n.649C>A
c.1826C>A (p.Ser609Ter)
n.213+9787G>T
14g.61741098C=CA2141396392HIF1A,HIF1A-AS3c.2003C= (p.Ser668=)
c.2006C= (p.Ser669=)
c.2075C= (p.Ser692=)
n.649C=
c.1826C= (p.Ser609=)
n.213+9787G=
14g.61741098C>GCA389929182HIF1A,HIF1A-AS3c.2003C>G (p.Ser668Ter)
c.2006C>G (p.Ser669Ter)
c.2075C>G (p.Ser692Ter)
n.649C>G
c.1826C>G (p.Ser609Ter)
n.213+9787G>C
14g.61741098C>TCA7216047HIF1A,HIF1A-AS3c.2003C>T (p.Ser668Leu)
c.2006C>T (p.Ser669Leu)
c.2075C>T (p.Ser692Leu)
n.649C>T
c.1826C>T (p.Ser609Leu)
n.213+9787G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741099A=CA2141396396HIF1A,HIF1A-AS3c.2004A= (p.Ser668=)
c.2007A= (p.Ser669=)
c.2076A= (p.Ser692=)
n.650A=
c.1827A= (p.Ser609=)
n.213+9786T=
14g.61741099A>CCA486957756HIF1A,HIF1A-AS3c.2004A>C (p.Ser668=)
c.2007A>C (p.Ser669=)
c.2076A>C (p.Ser692=)
n.650A>C
c.1827A>C (p.Ser609=)
n.213+9786T>G
14g.61741099A>GCA486957757HIF1A,HIF1A-AS3c.2004A>G (p.Ser668=)
c.2007A>G (p.Ser669=)
c.2076A>G (p.Ser692=)
n.650A>G
c.1827A>G (p.Ser609=)
n.213+9786T>C
14g.61741099A>TCA7216048HIF1A,HIF1A-AS3c.2004A>T (p.Ser668=)
c.2007A>T (p.Ser669=)
c.2076A>T (p.Ser692=)
n.650A>T
c.1827A>T (p.Ser609=)
n.213+9786T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741100C>ACA389929183HIF1A,HIF1A-AS3c.2005C>A (p.Pro669Thr)
c.2008C>A (p.Pro670Thr)
c.2077C>A (p.Pro693Thr)
n.651C>A
c.1828C>A (p.Pro610Thr)
n.213+9785G>T
14g.61741100C=CA2141396400HIF1A,HIF1A-AS3c.2005C= (p.Pro669=)
c.2008C= (p.Pro670=)
c.2077C= (p.Pro693=)
n.651C=
c.1828C= (p.Pro610=)
n.213+9785G=
14g.61741100C>GCA389929184HIF1A,HIF1A-AS3c.2005C>G (p.Pro669Ala)
c.2008C>G (p.Pro670Ala)
c.2077C>G (p.Pro693Ala)
n.651C>G
c.1828C>G (p.Pro610Ala)
n.213+9785G>C
14g.61741100C>TCA389929185HIF1A,HIF1A-AS3c.2005C>T (p.Pro669Ser)
c.2008C>T (p.Pro670Ser)
c.2077C>T (p.Pro693Ser)
n.651C>T
c.1828C>T (p.Pro610Ser)
n.213+9785G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.61741101C>ACA389929186HIF1A,HIF1A-AS3c.2006C>A (p.Pro669Gln)
c.2009C>A (p.Pro670Gln)
c.2078C>A (p.Pro693Gln)
n.652C>A
c.1829C>A (p.Pro610Gln)
n.213+9784G>T
 dbSNP gnomAD v4
14g.61741101C=CA2141396403HIF1A,HIF1A-AS3c.2006C= (p.Pro669=)
c.2009C= (p.Pro670=)
c.2078C= (p.Pro693=)
n.652C=
c.1829C= (p.Pro610=)
n.213+9784G=
14g.61741101C>GCA389929187HIF1A,HIF1A-AS3c.2006C>G (p.Pro669Arg)
c.2009C>G (p.Pro670Arg)
c.2078C>G (p.Pro693Arg)
n.652C>G
c.1829C>G (p.Pro610Arg)
n.213+9784G>C
14g.61741101C>TCA389929188HIF1A,HIF1A-AS3c.2006C>T (p.Pro669Leu)
c.2009C>T (p.Pro670Leu)
c.2078C>T (p.Pro693Leu)
n.652C>T
c.1829C>T (p.Pro610Leu)
n.213+9784G>A
 dbSNP gnomAD v3 gnomAD v4
14g.61741102A=CA2141396408HIF1A,HIF1A-AS3c.2007A= (p.Pro669=)
c.2010A= (p.Pro670=)
c.2079A= (p.Pro693=)
n.653A=
c.1830A= (p.Pro610=)
n.213+9783T=
14g.61741102A>CCA7216049HIF1A,HIF1A-AS3c.2007A>C (p.Pro669=)
c.2010A>C (p.Pro670=)
c.2079A>C (p.Pro693=)
n.653A>C
c.1830A>C (p.Pro610=)
n.213+9783T>G
 dbSNP ExAC
14g.61741102A>GCA486957762HIF1A,HIF1A-AS3c.2007A>G (p.Pro669=)
c.2010A>G (p.Pro670=)
c.2079A>G (p.Pro693=)
n.653A>G
c.1830A>G (p.Pro610=)
n.213+9783T>C
14g.61741102A>TCA486957761HIF1A,HIF1A-AS3c.2007A>T (p.Pro669=)
c.2010A>T (p.Pro670=)
c.2079A>T (p.Pro693=)
n.653A>T
c.1830A>T (p.Pro610=)
n.213+9783T>A
14g.61741103A>CCA389929190HIF1A,HIF1A-AS3c.2008A>C (p.Asn670His)
c.2011A>C (p.Asn671His)
c.2080A>C (p.Asn694His)
n.654A>C
c.1831A>C (p.Asn611His)
n.213+9782T>G
 gnomAD v4
14g.61741103A>GCA389929191HIF1A,HIF1A-AS3c.2008A>G (p.Asn670Asp)
c.2011A>G (p.Asn671Asp)
c.2080A>G (p.Asn694Asp)
n.654A>G
c.1831A>G (p.Asn611Asp)
n.213+9782T>C
14g.61741103A>TCA389929189HIF1A,HIF1A-AS3c.2008A>T (p.Asn670Tyr)
c.2011A>T (p.Asn671Tyr)
c.2080A>T (p.Asn694Tyr)
n.654A>T
c.1831A>T (p.Asn611Tyr)
n.213+9782T>A
14g.61741104A>CCA389929192HIF1A,HIF1A-AS3c.2009A>C (p.Asn670Thr)
c.2012A>C (p.Asn671Thr)
c.2081A>C (p.Asn694Thr)
n.655A>C
c.1832A>C (p.Asn611Thr)
n.213+9781T>G
14g.61741104A>GCA389929193HIF1A,HIF1A-AS3c.2009A>G (p.Asn670Ser)
c.2012A>G (p.Asn671Ser)
c.2081A>G (p.Asn694Ser)
n.655A>G
c.1832A>G (p.Asn611Ser)
n.213+9781T>C
14g.61741104A>TCA389929194HIF1A,HIF1A-AS3c.2009A>T (p.Asn670Ile)
c.2012A>T (p.Asn671Ile)
c.2081A>T (p.Asn694Ile)
n.655A>T
c.1832A>T (p.Asn611Ile)
n.213+9781T>A
14g.61741105C>ACA389929195HIF1A,HIF1A-AS3c.2010C>A (p.Asn670Lys)
c.2013C>A (p.Asn671Lys)
c.2082C>A (p.Asn694Lys)
n.656C>A
c.1833C>A (p.Asn611Lys)
n.213+9780G>T
14g.61741105C>GCA389929196HIF1A,HIF1A-AS3c.2010C>G (p.Asn670Lys)
c.2013C>G (p.Asn671Lys)
c.2082C>G (p.Asn694Lys)
n.656C>G
c.1833C>G (p.Asn611Lys)
n.213+9780G>C
14g.61741105C>TCA486957766HIF1A,HIF1A-AS3c.2010C>T (p.Asn670=)
c.2013C>T (p.Asn671=)
c.2082C>T (p.Asn694=)
n.656C>T
c.1833C>T (p.Asn611=)
n.213+9780G>A
14g.61741106A=CA2141396412HIF1A,HIF1A-AS3c.2011A= (p.Arg671=)
c.2014A= (p.Arg672=)
c.2083A= (p.Arg695=)
n.657A=
c.1834A= (p.Arg612=)
n.213+9779T=
14g.61741106A>CCA486957767HIF1A,HIF1A-AS3c.2011A>C (p.Arg671=)
c.2014A>C (p.Arg672=)
c.2083A>C (p.Arg695=)
n.657A>C
c.1834A>C (p.Arg612=)
n.213+9779T>G
14g.61741106A>GCA7216050HIF1A,HIF1A-AS3c.2011A>G (p.Arg671Gly)
c.2014A>G (p.Arg672Gly)
c.2083A>G (p.Arg695Gly)
n.657A>G
c.1834A>G (p.Arg612Gly)
n.213+9779T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741106A>TCA389929197HIF1A,HIF1A-AS3c.2011A>T (p.Arg671Ter)
c.2014A>T (p.Arg672Ter)
c.2083A>T (p.Arg695Ter)
n.657A>T
c.1834A>T (p.Arg612Ter)
n.213+9779T>A
14g.61741107G>ACA7216051HIF1A,HIF1A-AS3c.2012G>A (p.Arg671Lys)
c.2015G>A (p.Arg672Lys)
c.2084G>A (p.Arg695Lys)
n.658G>A
c.1835G>A (p.Arg612Lys)
n.213+9778C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.61741107G>CCA261778075HIF1A,HIF1A-AS3c.2012G>C (p.Arg671Thr)
c.2015G>C (p.Arg672Thr)
c.2084G>C (p.Arg695Thr)
n.658G>C
c.1835G>C (p.Arg612Thr)
n.213+9778C>G
 dbSNP
14g.61741107G=CA2141396419HIF1A,HIF1A-AS3c.2012G= (p.Arg671=)
c.2015G= (p.Arg672=)
c.2084G= (p.Arg695=)
n.658G=
c.1835G= (p.Arg612=)
n.213+9778C=
14g.61741107G>TCA389929198HIF1A,HIF1A-AS3c.2012G>T (p.Arg671Ile)
c.2015G>T (p.Arg672Ile)
c.2084G>T (p.Arg695Ile)
n.658G>T
c.1835G>T (p.Arg612Ile)
n.213+9778C>A
14g.61741108A>CCA389929199HIF1A,HIF1A-AS3c.2013A>C (p.Arg671Ser)
c.2016A>C (p.Arg672Ser)
c.2085A>C (p.Arg695Ser)
n.659A>C
c.1836A>C (p.Arg612Ser)
n.213+9777T>G
 gnomAD v4
14g.61741108A>GCA486957769HIF1A,HIF1A-AS3c.2013A>G (p.Arg671=)
c.2016A>G (p.Arg672=)
c.2085A>G (p.Arg695=)
n.659A>G
c.1836A>G (p.Arg612=)
n.213+9777T>C
14g.61741108A>TCA389929200HIF1A,HIF1A-AS3c.2013A>T (p.Arg671Ser)
c.2016A>T (p.Arg672Ser)
c.2085A>T (p.Arg695Ser)
n.659A>T
c.1836A>T (p.Arg612Ser)
n.213+9777T>A
14g.61741108_61741109insCCCAACCA2801824472HIF1A,HIF1A-AS3c.2013_2014insCCCAAC (p.Arg671_Ala672insProAsn)
c.2016_2017insCCCAAC (p.Arg672_Ala673insProAsn)
c.2085_2086insCCCAAC (p.Arg695_Ala696insProAsn)
n.659_660insCCCAAC
c.1836_1837insCCCAAC (p.Arg612_Ala613insProAsn)
n.213+9776_213+9777insGTTGGG
14g.61741109G>ACA389929203HIF1A,HIF1A-AS3c.2014G>A (p.Ala672Thr)
c.2017G>A (p.Ala673Thr)
c.2086G>A (p.Ala696Thr)
n.660G>A
c.1837G>A (p.Ala613Thr)
n.213+9776C>T
14g.61741109G>CCA389929202HIF1A,HIF1A-AS3c.2014G>C (p.Ala672Pro)
c.2017G>C (p.Ala673Pro)
c.2086G>C (p.Ala696Pro)
n.660G>C
c.1837G>C (p.Ala613Pro)
n.213+9776C>G
14g.61741109G>TCA389929201HIF1A,HIF1A-AS3c.2014G>T (p.Ala672Ser)
c.2017G>T (p.Ala673Ser)
c.2086G>T (p.Ala696Ser)
n.660G>T
c.1837G>T (p.Ala613Ser)
n.213+9776C>A
14g.61741110C>ACA389929204HIF1A,HIF1A-AS3c.2015C>A (p.Ala672Glu)
c.2018C>A (p.Ala673Glu)
c.2087C>A (p.Ala696Glu)
n.661C>A
c.1838C>A (p.Ala613Glu)
n.213+9775G>T
14g.61741110C>GCA389929205HIF1A,HIF1A-AS3c.2015C>G (p.Ala672Gly)
c.2018C>G (p.Ala673Gly)
c.2087C>G (p.Ala696Gly)
n.661C>G
c.1838C>G (p.Ala613Gly)
n.213+9775G>C
14g.61741110C>TCA389929206HIF1A,HIF1A-AS3c.2015C>T (p.Ala672Val)
c.2018C>T (p.Ala673Val)
c.2087C>T (p.Ala696Val)
n.661C>T
c.1838C>T (p.Ala613Val)
n.213+9775G>A
14g.61741111A=CA2141396429HIF1A,HIF1A-AS3c.2016A= (p.Ala672=)
c.2019A= (p.Ala673=)
c.2088A= (p.Ala696=)
n.662A=
c.1839A= (p.Ala613=)
n.213+9774T=
14g.61741111A>CCA486957771HIF1A,HIF1A-AS3c.2016A>C (p.Ala672=)
c.2019A>C (p.Ala673=)
c.2088A>C (p.Ala696=)
n.662A>C
c.1839A>C (p.Ala613=)
n.213+9774T>G
14g.61741111A>GCA486957772HIF1A,HIF1A-AS3c.2016A>G (p.Ala672=)
c.2019A>G (p.Ala673=)
c.2088A>G (p.Ala696=)
n.662A>G
c.1839A>G (p.Ala613=)
n.213+9774T>C
 dbSNP gnomAD v2 gnomAD v4
14g.61741111A>TCA486957773HIF1A,HIF1A-AS3c.2016A>T (p.Ala672=)
c.2019A>T (p.Ala673=)
c.2088A>T (p.Ala696=)
n.662A>T
c.1839A>T (p.Ala613=)
n.213+9774T>A
14g.61741112G>ACA389929207HIF1A,HIF1A-AS3c.2017G>A (p.Gly673Arg)
c.2020G>A (p.Gly674Arg)
c.2089G>A (p.Gly697Arg)
n.663G>A
c.1840G>A (p.Gly614Arg)
n.213+9773C>T
14g.61741112G>CCA389929208HIF1A,HIF1A-AS3c.2017G>C (p.Gly673Arg)
c.2020G>C (p.Gly674Arg)
c.2089G>C (p.Gly697Arg)
n.663G>C
c.1840G>C (p.Gly614Arg)
n.213+9773C>G
14g.61741112G>TCA389929209HIF1A,HIF1A-AS3c.2017G>T (p.Gly673Ter)
c.2020G>T (p.Gly674Ter)
c.2089G>T (p.Gly697Ter)
n.663G>T
c.1840G>T (p.Gly614Ter)
n.213+9773C>A
14g.61741113G>ACA389929210HIF1A,HIF1A-AS3c.2018G>A (p.Gly673Glu)
c.2021G>A (p.Gly674Glu)
c.2090G>A (p.Gly697Glu)
n.664G>A
c.1841G>A (p.Gly614Glu)
n.213+9772C>T
14g.61741113G>CCA389929211HIF1A,HIF1A-AS3c.2018G>C (p.Gly673Ala)
c.2021G>C (p.Gly674Ala)
c.2090G>C (p.Gly697Ala)
n.664G>C
c.1841G>C (p.Gly614Ala)
n.213+9772C>G
14g.61741113G>TCA389929212HIF1A,HIF1A-AS3c.2018G>T (p.Gly673Val)
c.2021G>T (p.Gly674Val)
c.2090G>T (p.Gly697Val)
n.664G>T
c.1841G>T (p.Gly614Val)
n.213+9772C>A
14g.61741114A>CCA486957774HIF1A,HIF1A-AS3c.2019A>C (p.Gly673=)
c.2022A>C (p.Gly674=)
c.2091A>C (p.Gly697=)
n.665A>C
c.1842A>C (p.Gly614=)
n.213+9771T>G
14g.61741114A>GCA486957775HIF1A,HIF1A-AS3c.2019A>G (p.Gly673=)
c.2022A>G (p.Gly674=)
c.2091A>G (p.Gly697=)
n.665A>G
c.1842A>G (p.Gly614=)
n.213+9771T>C
14g.61741114A>TCA486957776HIF1A,HIF1A-AS3c.2019A>T (p.Gly673=)
c.2022A>T (p.Gly674=)
c.2091A>T (p.Gly697=)
n.665A>T
c.1842A>T (p.Gly614=)
n.213+9771T>A
14g.61741115A>CCA389929213HIF1A,HIF1A-AS3c.2020A>C (p.Lys674Gln)
c.2023A>C (p.Lys675Gln)
c.2092A>C (p.Lys698Gln)
n.666A>C
c.1843A>C (p.Lys615Gln)
n.213+9770T>G
14g.61741115A>GCA389929214HIF1A,HIF1A-AS3c.2020A>G (p.Lys674Glu)
c.2023A>G (p.Lys675Glu)
c.2092A>G (p.Lys698Glu)
n.666A>G
c.1843A>G (p.Lys615Glu)
n.213+9770T>C
14g.61741115A>TCA389929215HIF1A,HIF1A-AS3c.2020A>T (p.Lys674Ter)
c.2023A>T (p.Lys675Ter)
c.2092A>T (p.Lys698Ter)
n.666A>T
c.1843A>T (p.Lys615Ter)
n.213+9770T>A
14g.61741116A>CCA389929216HIF1A,HIF1A-AS3c.2021A>C (p.Lys674Thr)
c.2024A>C (p.Lys675Thr)
c.2093A>C (p.Lys698Thr)
n.667A>C
c.1844A>C (p.Lys615Thr)
n.213+9769T>G
14g.61741116A>GCA389929218HIF1A,HIF1A-AS3c.2021A>G (p.Lys674Arg)
c.2024A>G (p.Lys675Arg)
c.2093A>G (p.Lys698Arg)
n.667A>G
c.1844A>G (p.Lys615Arg)
n.213+9769T>C
14g.61741116A>TCA389929217HIF1A,HIF1A-AS3c.2021A>T (p.Lys674Ile)
c.2024A>T (p.Lys675Ile)
c.2093A>T (p.Lys698Ile)
n.667A>T
c.1844A>T (p.Lys615Ile)
n.213+9769T>A
14g.61741117A=CA2141396432HIF1A,HIF1A-AS3c.2022A= (p.Lys674=)
c.2025A= (p.Lys675=)
c.2094A= (p.Lys698=)
n.668A=
c.1845A= (p.Lys615=)
n.213+9768T=
14g.61741117A>CCA389929219HIF1A,HIF1A-AS3c.2022A>C (p.Lys674Asn)
c.2025A>C (p.Lys675Asn)
c.2094A>C (p.Lys698Asn)
n.668A>C
c.1845A>C (p.Lys615Asn)
n.213+9768T>G
14g.61741117A>GCA486957777HIF1A,HIF1A-AS3c.2022A>G (p.Lys674=)
c.2025A>G (p.Lys675=)
c.2094A>G (p.Lys698=)
n.668A>G
c.1845A>G (p.Lys615=)
n.213+9768T>C
14g.61741117A>TCA7216052HIF1A,HIF1A-AS3c.2022A>T (p.Lys674Asn)
c.2025A>T (p.Lys675Asn)
c.2094A>T (p.Lys698Asn)
n.668A>T
c.1845A>T (p.Lys615Asn)
n.213+9768T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741118G>ACA389929220HIF1A,HIF1A-AS3c.2023G>A (p.Gly675Arg)
c.2026G>A (p.Gly676Arg)
c.2095G>A (p.Gly699Arg)
n.669G>A
c.1846G>A (p.Gly616Arg)
n.213+9767C>T
14g.61741118G>CCA389929221HIF1A,HIF1A-AS3c.2023G>C (p.Gly675Arg)
c.2026G>C (p.Gly676Arg)
c.2095G>C (p.Gly699Arg)
n.669G>C
c.1846G>C (p.Gly616Arg)
n.213+9767C>G
14g.61741118G>TCA389929222HIF1A,HIF1A-AS3c.2023G>T (p.Gly675Ter)
c.2026G>T (p.Gly676Ter)
c.2095G>T (p.Gly699Ter)
n.669G>T
c.1846G>T (p.Gly616Ter)
n.213+9767C>A
14g.61741119G>ACA389929225HIF1A,HIF1A-AS3c.2024G>A (p.Gly675Glu)
c.2027G>A (p.Gly676Glu)
c.2096G>A (p.Gly699Glu)
n.670G>A
c.1847G>A (p.Gly616Glu)
n.213+9766C>T
14g.61741119G>CCA389929224HIF1A,HIF1A-AS3c.2024G>C (p.Gly675Ala)
c.2027G>C (p.Gly676Ala)
c.2096G>C (p.Gly699Ala)
n.670G>C
c.1847G>C (p.Gly616Ala)
n.213+9766C>G
 dbSNP gnomAD v4
14g.61741119G=CA2141396437HIF1A,HIF1A-AS3c.2024G= (p.Gly675=)
c.2027G= (p.Gly676=)
c.2096G= (p.Gly699=)
n.670G=
c.1847G= (p.Gly616=)
n.213+9766C=
14g.61741119G>TCA389929223HIF1A,HIF1A-AS3c.2024G>T (p.Gly675Val)
c.2027G>T (p.Gly676Val)
c.2096G>T (p.Gly699Val)
n.670G>T
c.1847G>T (p.Gly616Val)
n.213+9766C>A
14g.61741120A>CCA486957782HIF1A,HIF1A-AS3c.2025A>C (p.Gly675=)
c.2028A>C (p.Gly676=)
c.2097A>C (p.Gly699=)
n.671A>C
c.1848A>C (p.Gly616=)
n.213+9765T>G
14g.61741120A>GCA486957780HIF1A,HIF1A-AS3c.2025A>G (p.Gly675=)
c.2028A>G (p.Gly676=)
c.2097A>G (p.Gly699=)
n.671A>G
c.1848A>G (p.Gly616=)
n.213+9765T>C
 gnomAD v4
14g.61741120A>TCA486957779HIF1A,HIF1A-AS3c.2025A>T (p.Gly675=)
c.2028A>T (p.Gly676=)
c.2097A>T (p.Gly699=)
n.671A>T
c.1848A>T (p.Gly616=)
n.213+9765T>A
14g.61741121G>ACA389929226HIF1A,HIF1A-AS3c.2026G>A (p.Val676Ile)
c.2029G>A (p.Val677Ile)
c.2098G>A (p.Val700Ile)
n.672G>A
c.1849G>A (p.Val617Ile)
n.213+9764C>T
 dbSNP gnomAD v2 gnomAD v4
14g.61741121G>CCA389929227HIF1A,HIF1A-AS3c.2026G>C (p.Val676Leu)
c.2029G>C (p.Val677Leu)
c.2098G>C (p.Val700Leu)
n.672G>C
c.1849G>C (p.Val617Leu)
n.213+9764C>G
14g.61741121G=CA2141396442HIF1A,HIF1A-AS3c.2026G= (p.Val676=)
c.2029G= (p.Val677=)
c.2098G= (p.Val700=)
n.672G=
c.1849G= (p.Val617=)
n.213+9764C=
14g.61741121G>TCA389929228HIF1A,HIF1A-AS3c.2026G>T (p.Val676Phe)
c.2029G>T (p.Val677Phe)
c.2098G>T (p.Val700Phe)
n.672G>T
c.1849G>T (p.Val617Phe)
n.213+9764C>A
 gnomAD v4
14g.61741122T>ACA389929229HIF1A,HIF1A-AS3c.2027T>A (p.Val676Asp)
c.2030T>A (p.Val677Asp)
c.2099T>A (p.Val700Asp)
n.673T>A
c.1850T>A (p.Val617Asp)
n.213+9763A>T
14g.61741122T>CCA389929230HIF1A,HIF1A-AS3c.2027T>C (p.Val676Ala)
c.2030T>C (p.Val677Ala)
c.2099T>C (p.Val700Ala)
n.673T>C
c.1850T>C (p.Val617Ala)
n.213+9763A>G
 gnomAD v4
14g.61741122T>GCA389929231HIF1A,HIF1A-AS3c.2027T>G (p.Val676Gly)
c.2030T>G (p.Val677Gly)
c.2099T>G (p.Val700Gly)
n.673T>G
c.1850T>G (p.Val617Gly)
n.213+9763A>C
14g.61741123C>ACA486957783HIF1A,HIF1A-AS3c.2028C>A (p.Val676=)
c.2031C>A (p.Val677=)
c.2100C>A (p.Val700=)
n.674C>A
c.1851C>A (p.Val617=)
n.213+9762G>T
14g.61741123C>GCA486957785HIF1A,HIF1A-AS3c.2028C>G (p.Val676=)
c.2031C>G (p.Val677=)
c.2100C>G (p.Val700=)
n.674C>G
c.1851C>G (p.Val617=)
n.213+9762G>C
14g.61741123C>TCA486957787HIF1A,HIF1A-AS3c.2028C>T (p.Val676=)
c.2031C>T (p.Val677=)
c.2100C>T (p.Val700=)
n.674C>T
c.1851C>T (p.Val617=)
n.213+9762G>A
14g.61741124A>CCA389929234HIF1A,HIF1A-AS3c.2029A>C (p.Ile677Leu)
c.2032A>C (p.Ile678Leu)
c.2101A>C (p.Ile701Leu)
n.675A>C
c.1852A>C (p.Ile618Leu)
n.213+9761T>G
14g.61741124A>GCA389929232HIF1A,HIF1A-AS3c.2029A>G (p.Ile677Val)
c.2032A>G (p.Ile678Val)
c.2101A>G (p.Ile701Val)
n.675A>G
c.1852A>G (p.Ile618Val)
n.213+9761T>C
14g.61741124A>TCA389929233HIF1A,HIF1A-AS3c.2029A>T (p.Ile677Leu)
c.2032A>T (p.Ile678Leu)
c.2101A>T (p.Ile701Leu)
n.675A>T
c.1852A>T (p.Ile618Leu)
n.213+9761T>A
14g.61741125_61741126delCA2575545765HIF1A,HIF1A-AS3c.2030_2031del (p.Ile677ArgfsTer12)
c.2033_2034del (p.Ile678ArgfsTer12)
c.2102_2103del (p.Ile701ArgfsTer12)
n.676_677del
c.1853_1854del (p.Ile618ArgfsTer12)
n.213+9760_213+9761del
14g.61741125T>ACA389929235HIF1A,HIF1A-AS3c.2030T>A (p.Ile677Lys)
c.2033T>A (p.Ile678Lys)
c.2102T>A (p.Ile701Lys)
n.676T>A
c.1853T>A (p.Ile618Lys)
n.213+9760A>T
14g.61741125T>CCA389929236HIF1A,HIF1A-AS3c.2030T>C (p.Ile677Thr)
c.2033T>C (p.Ile678Thr)
c.2102T>C (p.Ile701Thr)
n.676T>C
c.1853T>C (p.Ile618Thr)
n.213+9760A>G
 dbSNP gnomAD v4
14g.61741125T>GCA389929237HIF1A,HIF1A-AS3c.2030T>G (p.Ile677Arg)
c.2033T>G (p.Ile678Arg)
c.2102T>G (p.Ile701Arg)
n.676T>G
c.1853T>G (p.Ile618Arg)
n.213+9760A>C
14g.61741126A=CA2141396447HIF1A,HIF1A-AS3c.2031A= (p.Ile677=)
c.2034A= (p.Ile678=)
c.2103A= (p.Ile701=)
n.677A=
c.1854A= (p.Ile618=)
n.213+9759T=
14g.61741126A>CCA486957789HIF1A,HIF1A-AS3c.2031A>C (p.Ile677=)
c.2034A>C (p.Ile678=)
c.2103A>C (p.Ile701=)
n.677A>C
c.1854A>C (p.Ile618=)
n.213+9759T>G
14g.61741126A>GCA7216053HIF1A,HIF1A-AS3c.2031A>G (p.Ile677Met)
c.2034A>G (p.Ile678Met)
c.2103A>G (p.Ile701Met)
n.677A>G
c.1854A>G (p.Ile618Met)
n.213+9759T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741126A>TCA486957791HIF1A,HIF1A-AS3c.2031A>T (p.Ile677=)
c.2034A>T (p.Ile678=)
c.2103A>T (p.Ile701=)
n.677A>T
c.1854A>T (p.Ile618=)
n.213+9759T>A
14g.61741127G>ACA389929238HIF1A,HIF1A-AS3c.2032G>A (p.Glu678Lys)
c.2035G>A (p.Glu679Lys)
c.2104G>A (p.Glu702Lys)
n.678G>A
c.1855G>A (p.Glu619Lys)
n.213+9758C>T
 dbSNP gnomAD v4
14g.61741127G>CCA389929239HIF1A,HIF1A-AS3c.2032G>C (p.Glu678Gln)
c.2035G>C (p.Glu679Gln)
c.2104G>C (p.Glu702Gln)
n.678G>C
c.1855G>C (p.Glu619Gln)
n.213+9758C>G
14g.61741127G>TCA389929240HIF1A,HIF1A-AS3c.2032G>T (p.Glu678Ter)
c.2035G>T (p.Glu679Ter)
c.2104G>T (p.Glu702Ter)
n.678G>T
c.1855G>T (p.Glu619Ter)
n.213+9758C>A
14g.61741128A=CA2141396454HIF1A,HIF1A-AS3c.2033A= (p.Glu678=)
c.2036A= (p.Glu679=)
c.2105A= (p.Glu702=)
n.679A=
c.1856A= (p.Glu619=)
n.213+9757T=
14g.61741128A>CCA389929241HIF1A,HIF1A-AS3c.2033A>C (p.Glu678Ala)
c.2036A>C (p.Glu679Ala)
c.2105A>C (p.Glu702Ala)
n.679A>C
c.1856A>C (p.Glu619Ala)
n.213+9757T>G
14g.61741128A>GCA389929242HIF1A,HIF1A-AS3c.2033A>G (p.Glu678Gly)
c.2036A>G (p.Glu679Gly)
c.2105A>G (p.Glu702Gly)
n.679A>G
c.1856A>G (p.Glu619Gly)
n.213+9757T>C
 dbSNP
14g.61741128A>TCA389929243HIF1A,HIF1A-AS3c.2033A>T (p.Glu678Val)
c.2036A>T (p.Glu679Val)
c.2105A>T (p.Glu702Val)
n.679A>T
c.1856A>T (p.Glu619Val)
n.213+9757T>A
14g.61741129A>CCA389929244HIF1A,HIF1A-AS3c.2034A>C (p.Glu678Asp)
c.2037A>C (p.Glu679Asp)
c.2106A>C (p.Glu702Asp)
n.680A>C
c.1857A>C (p.Glu619Asp)
n.213+9756T>G
14g.61741129A>GCA486957793HIF1A,HIF1A-AS3c.2034A>G (p.Glu678=)
c.2037A>G (p.Glu679=)
c.2106A>G (p.Glu702=)
n.680A>G
c.1857A>G (p.Glu619=)
n.213+9756T>C
14g.61741129A>TCA389929245HIF1A,HIF1A-AS3c.2034A>T (p.Glu678Asp)
c.2037A>T (p.Glu679Asp)
c.2106A>T (p.Glu702Asp)
n.680A>T
c.1857A>T (p.Glu619Asp)
n.213+9756T>A
14g.61741130C>ACA389929246HIF1A,HIF1A-AS3c.2035C>A (p.Gln679Lys)
c.2038C>A (p.Gln680Lys)
c.2107C>A (p.Gln703Lys)
n.681C>A
c.1858C>A (p.Gln620Lys)
n.213+9755G>T
14g.61741130C=CA2141396457HIF1A,HIF1A-AS3c.2035C= (p.Gln679=)
c.2038C= (p.Gln680=)
c.2107C= (p.Gln703=)
n.681C=
c.1858C= (p.Gln620=)
n.213+9755G=
14g.61741130C>GCA248988HIF1A,HIF1A-AS3c.2035C>G (p.Gln679Glu)
c.2038C>G (p.Gln680Glu)
c.2107C>G (p.Gln703Glu)
n.681C>G
c.1858C>G (p.Gln620Glu)
n.213+9755G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61741130C>TCA389929247HIF1A,HIF1A-AS3c.2035C>T (p.Gln679Ter)
c.2038C>T (p.Gln680Ter)
c.2107C>T (p.Gln703Ter)
n.681C>T
c.1858C>T (p.Gln620Ter)
n.213+9755G>A

Number of alleles fetched