Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63488650C>A | CA400557792 | ACE | c.2308C>A (p.Leu770Met) c.586C>A (p.Leu196Met) c.*378C>A (n.*378C>A) c.567C>A (n.567C>A) c.*37C>A (n.*37C>A) c.*228C>A (n.*228C>A) c.76C>A (p.Leu26Met) n.254C>A c.1759C>A (p.Leu587Met) c.646C>A (p.Leu216Met) c.1741C>A (p.Leu581Met) c.1456C>A (p.Leu486Met) c.238C>A (p.Leu80Met) n.686C>A | |
17 | g.63488650C= | CA2269945927 | ACE | c.2308C= (p.Leu770=) c.586C= (p.Leu196=) c.*378C= (n.*378C=) c.567C= (n.567C=) c.*37C= (n.*37C=) c.*228C= (n.*228C=) c.76C= (p.Leu26=) n.254C= c.1759C= (p.Leu587=) c.646C= (p.Leu216=) c.1741C= (p.Leu581=) c.1456C= (p.Leu486=) c.238C= (p.Leu80=) n.686C= | |
17 | g.63488650C>G | CA8700056 | ACE | c.2308C>G (p.Leu770Val) c.586C>G (p.Leu196Val) c.*378C>G (n.*378C>G) c.567C>G (n.567C>G) c.*37C>G (n.*37C>G) c.*228C>G (n.*228C>G) c.76C>G (p.Leu26Val) n.254C>G c.1759C>G (p.Leu587Val) c.646C>G (p.Leu216Val) c.1741C>G (p.Leu581Val) c.1456C>G (p.Leu486Val) c.238C>G (p.Leu80Val) n.686C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488650C>T | CA501186660 | ACE | c.2308C>T (p.Leu770=) c.586C>T (p.Leu196=) c.*378C>T (n.*378C>T) c.567C>T (n.567C>T) c.*37C>T (n.*37C>T) c.*228C>T (n.*228C>T) c.76C>T (p.Leu26=) n.254C>T c.1759C>T (p.Leu587=) c.646C>T (p.Leu216=) c.1741C>T (p.Leu581=) c.1456C>T (p.Leu486=) c.238C>T (p.Leu80=) n.686C>T | gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63488651T>A | CA400557793 | ACE | c.2309T>A (p.Leu770Gln) c.587T>A (p.Leu196Gln) c.*379T>A (n.*379T>A) c.568T>A (n.568T>A) c.*38T>A (n.*38T>A) c.*229T>A (n.*229T>A) c.77T>A (p.Leu26Gln) n.255T>A c.1760T>A (p.Leu587Gln) c.647T>A (p.Leu216Gln) c.1742T>A (p.Leu581Gln) c.1457T>A (p.Leu486Gln) c.239T>A (p.Leu80Gln) n.687T>A | |
17 | g.63488651T>C | CA10650620 | ACE | c.2309T>C (p.Leu770Pro) c.587T>C (p.Leu196Pro) c.*379T>C (n.*379T>C) c.568T>C (n.568T>C) c.*38T>C (n.*38T>C) c.*229T>C (n.*229T>C) c.77T>C (p.Leu26Pro) n.255T>C c.1760T>C (p.Leu587Pro) c.647T>C (p.Leu216Pro) c.1742T>C (p.Leu581Pro) c.1457T>C (p.Leu486Pro) c.239T>C (p.Leu80Pro) n.687T>C | ClinVar dbSNP |
17 | g.63488651T>G | CA400557794 | ACE | c.2309T>G (p.Leu770Arg) c.587T>G (p.Leu196Arg) c.*379T>G (n.*379T>G) c.568T>G (n.568T>G) c.*38T>G (n.*38T>G) c.*229T>G (n.*229T>G) c.77T>G (p.Leu26Arg) n.255T>G c.1760T>G (p.Leu587Arg) c.647T>G (p.Leu216Arg) c.1742T>G (p.Leu581Arg) c.1457T>G (p.Leu486Arg) c.239T>G (p.Leu80Arg) n.687T>G | |
17 | g.63488651T= | CA2269945928 | ACE | c.2309T= (p.Leu770=) c.587T= (p.Leu196=) c.*379T= (n.*379T=) c.568T= (n.568T=) c.*38T= (n.*38T=) c.*229T= (n.*229T=) c.77T= (p.Leu26=) n.255T= c.1760T= (p.Leu587=) c.647T= (p.Leu216=) c.1742T= (p.Leu581=) c.1457T= (p.Leu486=) c.239T= (p.Leu80=) n.687T= | |
17 | g.63488652G>A | CA501186668 | ACE | c.2310G>A (p.Leu770=) c.588G>A (p.Leu196=) c.*380G>A (n.*380G>A) c.569G>A (n.569G>A) c.*39G>A (n.*39G>A) c.*230G>A (n.*230G>A) c.78G>A (p.Leu26=) n.256G>A c.1761G>A (p.Leu587=) c.648G>A (p.Leu216=) c.1743G>A (p.Leu581=) c.1458G>A (p.Leu486=) c.240G>A (p.Leu80=) n.688G>A | dbSNP gnomAD v4 |
17 | g.63488652G>C | CA501186672 | ACE | c.2310G>C (p.Leu770=) c.588G>C (p.Leu196=) c.*380G>C (n.*380G>C) c.569G>C (n.569G>C) c.*39G>C (n.*39G>C) c.*230G>C (n.*230G>C) c.78G>C (p.Leu26=) n.256G>C c.1761G>C (p.Leu587=) c.648G>C (p.Leu216=) c.1743G>C (p.Leu581=) c.1458G>C (p.Leu486=) c.240G>C (p.Leu80=) n.688G>C | |
17 | g.63488652G= | CA2269945929 | ACE | c.2310G= (p.Leu770=) c.588G= (p.Leu196=) c.*380G= (n.*380G=) c.569G= (n.569G=) c.*39G= (n.*39G=) c.*230G= (n.*230G=) c.78G= (p.Leu26=) n.256G= c.1761G= (p.Leu587=) c.648G= (p.Leu216=) c.1743G= (p.Leu581=) c.1458G= (p.Leu486=) c.240G= (p.Leu80=) n.688G= | |
17 | g.63488652G>T | CA501186670 | ACE | c.2310G>T (p.Leu770=) c.588G>T (p.Leu196=) c.*380G>T (n.*380G>T) c.569G>T (n.569G>T) c.*39G>T (n.*39G>T) c.*230G>T (n.*230G>T) c.78G>T (p.Leu26=) n.256G>T c.1761G>T (p.Leu587=) c.648G>T (p.Leu216=) c.1743G>T (p.Leu581=) c.1458G>T (p.Leu486=) c.240G>T (p.Leu80=) n.688G>T | |
17 | g.63488653A>C | CA400557797 | ACE | c.2311A>C (p.Thr771Pro) c.589A>C (p.Thr197Pro) c.*381A>C (n.*381A>C) c.570A>C (n.570A>C) c.*40A>C (n.*40A>C) c.*231A>C (n.*231A>C) c.79A>C (p.Thr27Pro) n.257A>C c.1762A>C (p.Thr588Pro) c.649A>C (p.Thr217Pro) c.1744A>C (p.Thr582Pro) c.1459A>C (p.Thr487Pro) c.241A>C (p.Thr81Pro) n.689A>C | |
17 | g.63488653A>G | CA400557796 | ACE | c.2311A>G (p.Thr771Ala) c.589A>G (p.Thr197Ala) c.*381A>G (n.*381A>G) c.570A>G (n.570A>G) c.*40A>G (n.*40A>G) c.*231A>G (n.*231A>G) c.79A>G (p.Thr27Ala) n.257A>G c.1762A>G (p.Thr588Ala) c.649A>G (p.Thr217Ala) c.1744A>G (p.Thr582Ala) c.1459A>G (p.Thr487Ala) c.241A>G (p.Thr81Ala) n.689A>G | |
17 | g.63488653A>T | CA400557795 | ACE | c.2311A>T (p.Thr771Ser) c.589A>T (p.Thr197Ser) c.*381A>T (n.*381A>T) c.570A>T (n.570A>T) c.*40A>T (n.*40A>T) c.*231A>T (n.*231A>T) c.79A>T (p.Thr27Ser) n.257A>T c.1762A>T (p.Thr588Ser) c.649A>T (p.Thr217Ser) c.1744A>T (p.Thr582Ser) c.1459A>T (p.Thr487Ser) c.241A>T (p.Thr81Ser) n.689A>T | gnomAD v3 gnomAD v4 |
17 | g.63488654C>A | CA400557798 | ACE | c.2312C>A (p.Thr771Lys) c.590C>A (p.Thr197Lys) c.*382C>A (n.*382C>A) c.571C>A (n.571C>A) c.*41C>A (n.*41C>A) c.*232C>A (n.*232C>A) c.80C>A (p.Thr27Lys) n.258C>A c.1763C>A (p.Thr588Lys) c.650C>A (p.Thr217Lys) c.1745C>A (p.Thr582Lys) c.1460C>A (p.Thr487Lys) c.242C>A (p.Thr81Lys) n.690C>A | |
17 | g.63488654C= | CA2269945930 | ACE | c.2312C= (p.Thr771=) c.590C= (p.Thr197=) c.*382C= (n.*382C=) c.571C= (n.571C=) c.*41C= (n.*41C=) c.*232C= (n.*232C=) c.80C= (p.Thr27=) n.258C= c.1763C= (p.Thr588=) c.650C= (p.Thr217=) c.1745C= (p.Thr582=) c.1460C= (p.Thr487=) c.242C= (p.Thr81=) n.690C= | |
17 | g.63488654C>G | CA400557799 | ACE | c.2312C>G (p.Thr771Arg) c.590C>G (p.Thr197Arg) c.*382C>G (n.*382C>G) c.571C>G (n.571C>G) c.*41C>G (n.*41C>G) c.*232C>G (n.*232C>G) c.80C>G (p.Thr27Arg) n.258C>G c.1763C>G (p.Thr588Arg) c.650C>G (p.Thr217Arg) c.1745C>G (p.Thr582Arg) c.1460C>G (p.Thr487Arg) c.242C>G (p.Thr81Arg) n.690C>G | |
17 | g.63488654C>T | CA8700057 | ACE | c.2312C>T (p.Thr771Met) c.590C>T (p.Thr197Met) c.*382C>T (n.*382C>T) c.571C>T (n.571C>T) c.*41C>T (n.*41C>T) c.*232C>T (n.*232C>T) c.80C>T (p.Thr27Met) n.258C>T c.1763C>T (p.Thr588Met) c.650C>T (p.Thr217Met) c.1745C>T (p.Thr582Met) c.1460C>T (p.Thr487Met) c.242C>T (p.Thr81Met) n.690C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488655G>A | CA8700058 | ACE | c.2313G>A (p.Thr771=) c.591G>A (p.Thr197=) c.*383G>A (n.*383G>A) c.572G>A (n.572G>A) c.*42G>A (n.*42G>A) c.*233G>A (n.*233G>A) c.81G>A (p.Thr27=) n.259G>A c.1764G>A (p.Thr588=) c.651G>A (p.Thr217=) c.1746G>A (p.Thr582=) c.1461G>A (p.Thr487=) c.243G>A (p.Thr81=) n.691G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
17 | g.63488655G>C | CA501186685 | ACE | c.2313G>C (p.Thr771=) c.591G>C (p.Thr197=) c.*383G>C (n.*383G>C) c.572G>C (n.572G>C) c.*42G>C (n.*42G>C) c.*233G>C (n.*233G>C) c.81G>C (p.Thr27=) n.259G>C c.1764G>C (p.Thr588=) c.651G>C (p.Thr217=) c.1746G>C (p.Thr582=) c.1461G>C (p.Thr487=) c.243G>C (p.Thr81=) n.691G>C | |
17 | g.63488655G= | CA2269945931 | ACE | c.2313G= (p.Thr771=) c.591G= (p.Thr197=) c.*383G= (n.*383G=) c.572G= (n.572G=) c.*42G= (n.*42G=) c.*233G= (n.*233G=) c.81G= (p.Thr27=) n.259G= c.1764G= (p.Thr588=) c.651G= (p.Thr217=) c.1746G= (p.Thr582=) c.1461G= (p.Thr487=) c.243G= (p.Thr81=) n.691G= | |
17 | g.63488655G>T | CA501186688 | ACE | c.2313G>T (p.Thr771=) c.591G>T (p.Thr197=) c.*383G>T (n.*383G>T) c.572G>T (n.572G>T) c.*42G>T (n.*42G>T) c.*233G>T (n.*233G>T) c.81G>T (p.Thr27=) n.259G>T c.1764G>T (p.Thr588=) c.651G>T (p.Thr217=) c.1746G>T (p.Thr582=) c.1461G>T (p.Thr487=) c.243G>T (p.Thr81=) n.691G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488656A>C | CA400557800 | ACE | c.2314A>C (p.Asn772His) c.592A>C (p.Asn198His) c.*384A>C (n.*384A>C) c.573A>C (n.573A>C) c.*43A>C (n.*43A>C) c.*234A>C (n.*234A>C) c.82A>C (p.Asn28His) n.260A>C c.1765A>C (p.Asn589His) c.652A>C (p.Asn218His) c.1747A>C (p.Asn583His) c.1462A>C (p.Asn488His) c.244A>C (p.Asn82His) n.692A>C | |
17 | g.63488656A>G | CA400557801 | ACE | c.2314A>G (p.Asn772Asp) c.592A>G (p.Asn198Asp) c.*384A>G (n.*384A>G) c.573A>G (n.573A>G) c.*43A>G (n.*43A>G) c.*234A>G (n.*234A>G) c.82A>G (p.Asn28Asp) n.260A>G c.1765A>G (p.Asn589Asp) c.652A>G (p.Asn218Asp) c.1747A>G (p.Asn583Asp) c.1462A>G (p.Asn488Asp) c.244A>G (p.Asn82Asp) n.692A>G | |
17 | g.63488656A>T | CA400557802 | ACE | c.2314A>T (p.Asn772Tyr) c.592A>T (p.Asn198Tyr) c.*384A>T (n.*384A>T) c.573A>T (n.573A>T) c.*43A>T (n.*43A>T) c.*234A>T (n.*234A>T) c.82A>T (p.Asn28Tyr) n.260A>T c.1765A>T (p.Asn589Tyr) c.652A>T (p.Asn218Tyr) c.1747A>T (p.Asn583Tyr) c.1462A>T (p.Asn488Tyr) c.244A>T (p.Asn82Tyr) n.692A>T | |
17 | g.63488656_63488671del | CA985411614 | ACE | c.2314_2329del (p.Asn772ProfsTer?) c.592_607del (p.Asn198ProfsTer?) c.*384_*399del (n.*384_*399del) c.573_588del (n.573_588del) c.*43_*58del (n.*43_*58del) c.*234_*249del (n.*234_*249del) c.82_97del (p.Asn28ProfsTer?) n.260_275del c.1765_1780del (p.Asn589ProfsTer?) c.652_667del (p.Asn218ProfsTer?) c.1747_1762del (p.Asn583ProfsTer?) c.1462_1477del (p.Asn488ProfsTer?) c.244_259del (p.Asn82ProfsTer?) n.692_707del | gnomAD v3 gnomAD v4 |
17 | g.63488657A>C | CA400557803 | ACE | c.2315A>C (p.Asn772Thr) c.593A>C (p.Asn198Thr) c.*385A>C (n.*385A>C) c.574A>C (n.574A>C) c.*44A>C (n.*44A>C) c.*235A>C (n.*235A>C) c.83A>C (p.Asn28Thr) n.261A>C c.1766A>C (p.Asn589Thr) c.653A>C (p.Asn218Thr) c.1748A>C (p.Asn583Thr) c.1463A>C (p.Asn488Thr) c.245A>C (p.Asn82Thr) n.693A>C | |
17 | g.63488657A>G | CA400557804 | ACE | c.2315A>G (p.Asn772Ser) c.593A>G (p.Asn198Ser) c.*385A>G (n.*385A>G) c.574A>G (n.574A>G) c.*44A>G (n.*44A>G) c.*235A>G (n.*235A>G) c.83A>G (p.Asn28Ser) n.261A>G c.1766A>G (p.Asn589Ser) c.653A>G (p.Asn218Ser) c.1748A>G (p.Asn583Ser) c.1463A>G (p.Asn488Ser) c.245A>G (p.Asn82Ser) n.693A>G | |
17 | g.63488657A>T | CA400557805 | ACE | c.2315A>T (p.Asn772Ile) c.593A>T (p.Asn198Ile) c.*385A>T (n.*385A>T) c.574A>T (n.574A>T) c.*44A>T (n.*44A>T) c.*235A>T (n.*235A>T) c.83A>T (p.Asn28Ile) n.261A>T c.1766A>T (p.Asn589Ile) c.653A>T (p.Asn218Ile) c.1748A>T (p.Asn583Ile) c.1463A>T (p.Asn488Ile) c.245A>T (p.Asn82Ile) n.693A>T | |
17 | g.63488658T>A | CA400557806 | ACE | c.2316T>A (p.Asn772Lys) c.594T>A (p.Asn198Lys) c.*386T>A (n.*386T>A) c.575T>A (n.575T>A) c.*45T>A (n.*45T>A) c.*236T>A (n.*236T>A) c.84T>A (p.Asn28Lys) n.262T>A c.1767T>A (p.Asn589Lys) c.654T>A (p.Asn218Lys) c.1749T>A (p.Asn583Lys) c.1464T>A (p.Asn488Lys) c.246T>A (p.Asn82Lys) n.694T>A | |
17 | g.63488658T>C | CA501186702 | ACE | c.2316T>C (p.Asn772=) c.594T>C (p.Asn198=) c.*386T>C (n.*386T>C) c.575T>C (n.575T>C) c.*45T>C (n.*45T>C) c.*236T>C (n.*236T>C) c.84T>C (p.Asn28=) n.262T>C c.1767T>C (p.Asn589=) c.654T>C (p.Asn218=) c.1749T>C (p.Asn583=) c.1464T>C (p.Asn488=) c.246T>C (p.Asn82=) n.694T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488658T>G | CA400557807 | ACE | c.2316T>G (p.Asn772Lys) c.594T>G (p.Asn198Lys) c.*386T>G (n.*386T>G) c.575T>G (n.575T>G) c.*45T>G (n.*45T>G) c.*236T>G (n.*236T>G) c.84T>G (p.Asn28Lys) n.262T>G c.1767T>G (p.Asn589Lys) c.654T>G (p.Asn218Lys) c.1749T>G (p.Asn583Lys) c.1464T>G (p.Asn488Lys) c.246T>G (p.Asn82Lys) n.694T>G | |
17 | g.63488658T= | CA2269945932 | ACE | c.2316T= (p.Asn772=) c.594T= (p.Asn198=) c.*386T= (n.*386T=) c.575T= (n.575T=) c.*45T= (n.*45T=) c.*236T= (n.*236T=) c.84T= (p.Asn28=) n.262T= c.1767T= (p.Asn589=) c.654T= (p.Asn218=) c.1749T= (p.Asn583=) c.1464T= (p.Asn488=) c.246T= (p.Asn82=) n.694T= | |
17 | g.63488659G>A | CA8700059 | ACE | c.2317G>A (p.Val773Met) c.595G>A (p.Val199Met) c.*387G>A (n.*387G>A) c.576G>A (n.576G>A) c.*46G>A (n.*46G>A) c.*237G>A (n.*237G>A) c.85G>A (p.Val29Met) n.263G>A c.1768G>A (p.Val590Met) c.655G>A (p.Val219Met) c.1750G>A (p.Val584Met) c.1465G>A (p.Val489Met) c.247G>A (p.Val83Met) n.695G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488659G>C | CA400557809 | ACE | c.2317G>C (p.Val773Leu) c.595G>C (p.Val199Leu) c.*387G>C (n.*387G>C) c.576G>C (n.576G>C) c.*46G>C (n.*46G>C) c.*237G>C (n.*237G>C) c.85G>C (p.Val29Leu) n.263G>C c.1768G>C (p.Val590Leu) c.655G>C (p.Val219Leu) c.1750G>C (p.Val584Leu) c.1465G>C (p.Val489Leu) c.247G>C (p.Val83Leu) n.695G>C | |
17 | g.63488659G= | CA2269945933 | ACE | c.2317G= (p.Val773=) c.595G= (p.Val199=) c.*387G= (n.*387G=) c.576G= (n.576G=) c.*46G= (n.*46G=) c.*237G= (n.*237G=) c.85G= (p.Val29=) n.263G= c.1768G= (p.Val590=) c.655G= (p.Val219=) c.1750G= (p.Val584=) c.1465G= (p.Val489=) c.247G= (p.Val83=) n.695G= | |
17 | g.63488659G>T | CA400557808 | ACE | c.2317G>T (p.Val773Leu) c.595G>T (p.Val199Leu) c.*387G>T (n.*387G>T) c.576G>T (n.576G>T) c.*46G>T (n.*46G>T) c.*237G>T (n.*237G>T) c.85G>T (p.Val29Leu) n.263G>T c.1768G>T (p.Val590Leu) c.655G>T (p.Val219Leu) c.1750G>T (p.Val584Leu) c.1465G>T (p.Val489Leu) c.247G>T (p.Val83Leu) n.695G>T | |
17 | g.63488660T>A | CA400557810 | ACE | c.2318T>A (p.Val773Glu) c.596T>A (p.Val199Glu) c.*388T>A (n.*388T>A) c.577T>A (n.577T>A) c.*47T>A (n.*47T>A) c.*238T>A (n.*238T>A) c.86T>A (p.Val29Glu) n.264T>A c.1769T>A (p.Val590Glu) c.656T>A (p.Val219Glu) c.1751T>A (p.Val584Glu) c.1466T>A (p.Val489Glu) c.248T>A (p.Val83Glu) n.696T>A | |
17 | g.63488660T>C | CA400557811 | ACE | c.2318T>C (p.Val773Ala) c.596T>C (p.Val199Ala) c.*388T>C (n.*388T>C) c.577T>C (n.577T>C) c.*47T>C (n.*47T>C) c.*238T>C (n.*238T>C) c.86T>C (p.Val29Ala) n.264T>C c.1769T>C (p.Val590Ala) c.656T>C (p.Val219Ala) c.1751T>C (p.Val584Ala) c.1466T>C (p.Val489Ala) c.248T>C (p.Val83Ala) n.696T>C | |
17 | g.63488660T>G | CA400557812 | ACE | c.2318T>G (p.Val773Gly) c.596T>G (p.Val199Gly) c.*388T>G (n.*388T>G) c.577T>G (n.577T>G) c.*47T>G (n.*47T>G) c.*238T>G (n.*238T>G) c.86T>G (p.Val29Gly) n.264T>G c.1769T>G (p.Val590Gly) c.656T>G (p.Val219Gly) c.1751T>G (p.Val584Gly) c.1466T>G (p.Val489Gly) c.248T>G (p.Val83Gly) n.696T>G | |
17 | g.63488661G>A | CA501186712 | ACE | c.2319G>A (p.Val773=) c.597G>A (p.Val199=) c.*389G>A (n.*389G>A) c.578G>A (n.578G>A) c.*48G>A (n.*48G>A) c.*239G>A (n.*239G>A) c.87G>A (p.Val29=) n.265G>A c.1770G>A (p.Val590=) c.657G>A (p.Val219=) c.1752G>A (p.Val584=) c.1467G>A (p.Val489=) c.249G>A (p.Val83=) n.697G>A | |
17 | g.63488661G>C | CA501186714 | ACE | c.2319G>C (p.Val773=) c.597G>C (p.Val199=) c.*389G>C (n.*389G>C) c.578G>C (n.578G>C) c.*48G>C (n.*48G>C) c.*239G>C (n.*239G>C) c.87G>C (p.Val29=) n.265G>C c.1770G>C (p.Val590=) c.657G>C (p.Val219=) c.1752G>C (p.Val584=) c.1467G>C (p.Val489=) c.249G>C (p.Val83=) n.697G>C | |
17 | g.63488661G>T | CA501186716 | ACE | c.2319G>T (p.Val773=) c.597G>T (p.Val199=) c.*389G>T (n.*389G>T) c.578G>T (n.578G>T) c.*48G>T (n.*48G>T) c.*239G>T (n.*239G>T) c.87G>T (p.Val29=) n.265G>T c.1770G>T (p.Val590=) c.657G>T (p.Val219=) c.1752G>T (p.Val584=) c.1467G>T (p.Val489=) c.249G>T (p.Val83=) n.697G>T | |
17 | g.63488662A= | CA2269945934 | ACE | c.2320A= (p.Met774=) c.598A= (p.Met200=) c.*390A= (n.*390A=) c.579A= (n.579A=) c.*49A= (n.*49A=) c.*240A= (n.*240A=) c.88A= (p.Met30=) n.266A= c.1771A= (p.Met591=) c.658A= (p.Met220=) c.1753A= (p.Met585=) c.1468A= (p.Met490=) c.250A= (p.Met84=) n.698A= | |
17 | g.63488662A>C | CA400557813 | ACE | c.2320A>C (p.Met774Leu) c.598A>C (p.Met200Leu) c.*390A>C (n.*390A>C) c.579A>C (n.579A>C) c.*49A>C (n.*49A>C) c.*240A>C (n.*240A>C) c.88A>C (p.Met30Leu) n.266A>C c.1771A>C (p.Met591Leu) c.658A>C (p.Met220Leu) c.1753A>C (p.Met585Leu) c.1468A>C (p.Met490Leu) c.250A>C (p.Met84Leu) n.698A>C | |
17 | g.63488662A>G | CA8700060 | ACE | c.2320A>G (p.Met774Val) c.598A>G (p.Met200Val) c.*390A>G (n.*390A>G) c.579A>G (n.579A>G) c.*49A>G (n.*49A>G) c.*240A>G (n.*240A>G) c.88A>G (p.Met30Val) n.266A>G c.1771A>G (p.Met591Val) c.658A>G (p.Met220Val) c.1753A>G (p.Met585Val) c.1468A>G (p.Met490Val) c.250A>G (p.Met84Val) n.698A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488662A>T | CA400557814 | ACE | c.2320A>T (p.Met774Leu) c.598A>T (p.Met200Leu) c.*390A>T (n.*390A>T) c.579A>T (n.579A>T) c.*49A>T (n.*49A>T) c.*240A>T (n.*240A>T) c.88A>T (p.Met30Leu) n.266A>T c.1771A>T (p.Met591Leu) c.658A>T (p.Met220Leu) c.1753A>T (p.Met585Leu) c.1468A>T (p.Met490Leu) c.250A>T (p.Met84Leu) n.698A>T | |
17 | g.63488663T>A | CA400557815 | ACE | c.2321T>A (p.Met774Lys) c.599T>A (p.Met200Lys) c.*391T>A (n.*391T>A) c.580T>A (n.580T>A) c.*50T>A (n.*50T>A) c.*241T>A (n.*241T>A) c.89T>A (p.Met30Lys) n.267T>A c.1772T>A (p.Met591Lys) c.659T>A (p.Met220Lys) c.1754T>A (p.Met585Lys) c.1469T>A (p.Met490Lys) c.251T>A (p.Met84Lys) n.699T>A | |
17 | g.63488663T>C | CA400557816 | ACE | c.2321T>C (p.Met774Thr) c.599T>C (p.Met200Thr) c.*391T>C (n.*391T>C) c.580T>C (n.580T>C) c.*50T>C (n.*50T>C) c.*241T>C (n.*241T>C) c.89T>C (p.Met30Thr) n.267T>C c.1772T>C (p.Met591Thr) c.659T>C (p.Met220Thr) c.1754T>C (p.Met585Thr) c.1469T>C (p.Met490Thr) c.251T>C (p.Met84Thr) n.699T>C | gnomAD v4 |