Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63488631_63488648del | CA985411584 | ACE | c.2306-17_2306del c.584-17_584del c.*376-17_*376del c.548_565del (n.548_565del) c.*18_*35del (n.*18_*35del) c.*226-17_*226del c.74-17_74del n.252-17_252del c.1757-17_1757del c.644-17_644del c.1739-17_1739del c.1454-17_1454del c.236-17_236del n.667_684del | gnomAD v3 gnomAD v4 |
17 | g.63488644C>A | CA627148285 | ACE | c.2306-4C>A (n.2306-4C>A) c.584-4C>A (n.584-4C>A) c.*376-4C>A (n.*376-4C>A) c.561C>A (n.561C>A) c.*31C>A (n.*31C>A) c.*226-4C>A (n.*226-4C>A) c.74-4C>A (n.74-4C>A) n.252-4C>A c.1757-4C>A (n.1757-4C>A) c.644-4C>A (n.644-4C>A) c.1739-4C>A (n.1739-4C>A) c.1454-4C>A (n.1454-4C>A) c.236-4C>A (n.236-4C>A) n.680C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488644C= | CA2269945922 | ACE | c.2306-4C= (n.2306-4C=) c.584-4C= (n.584-4C=) c.*376-4C= (n.*376-4C=) c.561C= (n.561C=) c.*31C= (n.*31C=) c.*226-4C= (n.*226-4C=) c.74-4C= (n.74-4C=) n.252-4C= c.1757-4C= (n.1757-4C=) c.644-4C= (n.644-4C=) c.1739-4C= (n.1739-4C=) c.1454-4C= (n.1454-4C=) c.236-4C= (n.236-4C=) n.680C= | |
17 | g.63488644C>G | CA2269945923 | ACE | c.2306-4C>G (n.2306-4C>G) c.584-4C>G (n.584-4C>G) c.*376-4C>G (n.*376-4C>G) c.561C>G (n.561C>G) c.*31C>G (n.*31C>G) c.*226-4C>G (n.*226-4C>G) c.74-4C>G (n.74-4C>G) n.252-4C>G c.1757-4C>G (n.1757-4C>G) c.644-4C>G (n.644-4C>G) c.1739-4C>G (n.1739-4C>G) c.1454-4C>G (n.1454-4C>G) c.236-4C>G (n.236-4C>G) n.680C>G | dbSNP |
17 | g.63488644C>T | CA985411600 | ACE | c.2306-4C>T (n.2306-4C>T) c.584-4C>T (n.584-4C>T) c.*376-4C>T (n.*376-4C>T) c.561C>T (n.561C>T) c.*31C>T (n.*31C>T) c.*226-4C>T (n.*226-4C>T) c.74-4C>T (n.74-4C>T) n.252-4C>T c.1757-4C>T (n.1757-4C>T) c.644-4C>T (n.644-4C>T) c.1739-4C>T (n.1739-4C>T) c.1454-4C>T (n.1454-4C>T) c.236-4C>T (n.236-4C>T) n.680C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488646A>C | CA400557783 | ACE | c.2306-2A>C (n.2306-2A>C) c.584-2A>C (n.584-2A>C) c.*376-2A>C (n.*376-2A>C) c.563A>C (n.563A>C) c.*33A>C (n.*33A>C) c.*226-2A>C (n.*226-2A>C) c.74-2A>C (n.74-2A>C) n.252-2A>C c.1757-2A>C (n.1757-2A>C) c.644-2A>C (n.644-2A>C) c.1739-2A>C (n.1739-2A>C) c.1454-2A>C (n.1454-2A>C) c.236-2A>C (n.236-2A>C) n.682A>C | |
17 | g.63488646A>G | CA400557784 | ACE | c.2306-2A>G (n.2306-2A>G) c.584-2A>G (n.584-2A>G) c.*376-2A>G (n.*376-2A>G) c.563A>G (n.563A>G) c.*33A>G (n.*33A>G) c.*226-2A>G (n.*226-2A>G) c.74-2A>G (n.74-2A>G) n.252-2A>G c.1757-2A>G (n.1757-2A>G) c.644-2A>G (n.644-2A>G) c.1739-2A>G (n.1739-2A>G) c.1454-2A>G (n.1454-2A>G) c.236-2A>G (n.236-2A>G) n.682A>G | gnomAD v4 |
17 | g.63488646A>T | CA400557785 | ACE | c.2306-2A>T (n.2306-2A>T) c.584-2A>T (n.584-2A>T) c.*376-2A>T (n.*376-2A>T) c.563A>T (n.563A>T) c.*33A>T (n.*33A>T) c.*226-2A>T (n.*226-2A>T) c.74-2A>T (n.74-2A>T) n.252-2A>T c.1757-2A>T (n.1757-2A>T) c.644-2A>T (n.644-2A>T) c.1739-2A>T (n.1739-2A>T) c.1454-2A>T (n.1454-2A>T) c.236-2A>T (n.236-2A>T) n.682A>T | |
17 | g.63488647G>A | CA400557786 | ACE | c.2306-1G>A (n.2306-1G>A) c.584-1G>A (n.584-1G>A) c.*376-1G>A (n.*376-1G>A) c.564G>A (n.564G>A) c.*34G>A (n.*34G>A) c.*226-1G>A (n.*226-1G>A) c.74-1G>A (n.74-1G>A) n.252-1G>A c.1757-1G>A (n.1757-1G>A) c.644-1G>A (n.644-1G>A) c.1739-1G>A (n.1739-1G>A) c.1454-1G>A (n.1454-1G>A) c.236-1G>A (n.236-1G>A) n.683G>A | |
17 | g.63488647G>C | CA8700054 | ACE | c.2306-1G>C (n.2306-1G>C) c.584-1G>C (n.584-1G>C) c.*376-1G>C (n.*376-1G>C) c.564G>C (n.564G>C) c.*34G>C (n.*34G>C) c.*226-1G>C (n.*226-1G>C) c.74-1G>C (n.74-1G>C) n.252-1G>C c.1757-1G>C (n.1757-1G>C) c.644-1G>C (n.644-1G>C) c.1739-1G>C (n.1739-1G>C) c.1454-1G>C (n.1454-1G>C) c.236-1G>C (n.236-1G>C) n.683G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488647G= | CA2269945924 | ACE | c.2306-1G= (n.2306-1G=) c.584-1G= (n.584-1G=) c.*376-1G= (n.*376-1G=) c.564G= (n.564G=) c.*34G= (n.*34G=) c.*226-1G= (n.*226-1G=) c.74-1G= (n.74-1G=) n.252-1G= c.1757-1G= (n.1757-1G=) c.644-1G= (n.644-1G=) c.1739-1G= (n.1739-1G=) c.1454-1G= (n.1454-1G=) c.236-1G= (n.236-1G=) n.683G= | |
17 | g.63488647G>T | CA400557787 | ACE | c.2306-1G>T (n.2306-1G>T) c.584-1G>T (n.584-1G>T) c.*376-1G>T (n.*376-1G>T) c.564G>T (n.564G>T) c.*34G>T (n.*34G>T) c.*226-1G>T (n.*226-1G>T) c.74-1G>T (n.74-1G>T) n.252-1G>T c.1757-1G>T (n.1757-1G>T) c.644-1G>T (n.644-1G>T) c.1739-1G>T (n.1739-1G>T) c.1454-1G>T (n.1454-1G>T) c.236-1G>T (n.236-1G>T) n.683G>T | gnomAD v4 |
17 | g.63488648A= | CA2269945925 | ACE | c.2306A= (p.Asp769=) c.584A= (p.Asp195=) c.*376A= (n.*376A=) c.565A= (n.565A=) c.*35A= (n.*35A=) c.*226A= (n.*226A=) c.74A= (p.Asp25=) n.252A= c.1757A= (p.Asp586=) c.644A= (p.Asp215=) c.1739A= (p.Asp580=) c.1454A= (p.Asp485=) c.236A= (p.Asp79=) n.684A= | |
17 | g.63488648A>C | CA400557788 | ACE | c.2306A>C (p.Asp769Ala) c.584A>C (p.Asp195Ala) c.*376A>C (n.*376A>C) c.565A>C (n.565A>C) c.*35A>C (n.*35A>C) c.*226A>C (n.*226A>C) c.74A>C (p.Asp25Ala) n.252A>C c.1757A>C (p.Asp586Ala) c.644A>C (p.Asp215Ala) c.1739A>C (p.Asp580Ala) c.1454A>C (p.Asp485Ala) c.236A>C (p.Asp79Ala) n.684A>C | |
17 | g.63488648A>G | CA8700055 | ACE | c.2306A>G (p.Asp769Gly) c.584A>G (p.Asp195Gly) c.*376A>G (n.*376A>G) c.565A>G (n.565A>G) c.*35A>G (n.*35A>G) c.*226A>G (n.*226A>G) c.74A>G (p.Asp25Gly) n.252A>G c.1757A>G (p.Asp586Gly) c.644A>G (p.Asp215Gly) c.1739A>G (p.Asp580Gly) c.1454A>G (p.Asp485Gly) c.236A>G (p.Asp79Gly) n.684A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488648A>T | CA400557789 | ACE | c.2306A>T (p.Asp769Val) c.584A>T (p.Asp195Val) c.*376A>T (n.*376A>T) c.565A>T (n.565A>T) c.*35A>T (n.*35A>T) c.*226A>T (n.*226A>T) c.74A>T (p.Asp25Val) n.252A>T c.1757A>T (p.Asp586Val) c.644A>T (p.Asp215Val) c.1739A>T (p.Asp580Val) c.1454A>T (p.Asp485Val) c.236A>T (p.Asp79Val) n.684A>T | |
17 | g.63488649T>A | CA400557790 | ACE | c.2307T>A (p.Asp769Glu) c.585T>A (p.Asp195Glu) c.*377T>A (n.*377T>A) c.566T>A (n.566T>A) c.*36T>A (n.*36T>A) c.*227T>A (n.*227T>A) c.75T>A (p.Asp25Glu) n.253T>A c.1758T>A (p.Asp586Glu) c.645T>A (p.Asp215Glu) c.1740T>A (p.Asp580Glu) c.1455T>A (p.Asp485Glu) c.237T>A (p.Asp79Glu) n.685T>A | |
17 | g.63488649T>C | CA292883326 | ACE | c.2307T>C (p.Asp769=) c.585T>C (p.Asp195=) c.*377T>C (n.*377T>C) c.566T>C (n.566T>C) c.*36T>C (n.*36T>C) c.*227T>C (n.*227T>C) c.75T>C (p.Asp25=) n.253T>C c.1758T>C (p.Asp586=) c.645T>C (p.Asp215=) c.1740T>C (p.Asp580=) c.1455T>C (p.Asp485=) c.237T>C (p.Asp79=) n.685T>C | dbSNP |
17 | g.63488649T>G | CA400557791 | ACE | c.2307T>G (p.Asp769Glu) c.585T>G (p.Asp195Glu) c.*377T>G (n.*377T>G) c.566T>G (n.566T>G) c.*36T>G (n.*36T>G) c.*227T>G (n.*227T>G) c.75T>G (p.Asp25Glu) n.253T>G c.1758T>G (p.Asp586Glu) c.645T>G (p.Asp215Glu) c.1740T>G (p.Asp580Glu) c.1455T>G (p.Asp485Glu) c.237T>G (p.Asp79Glu) n.685T>G | |
17 | g.63488649T= | CA2269945926 | ACE | c.2307T= (p.Asp769=) c.585T= (p.Asp195=) c.*377T= (n.*377T=) c.566T= (n.566T=) c.*36T= (n.*36T=) c.*227T= (n.*227T=) c.75T= (p.Asp25=) n.253T= c.1758T= (p.Asp586=) c.645T= (p.Asp215=) c.1740T= (p.Asp580=) c.1455T= (p.Asp485=) c.237T= (p.Asp79=) n.685T= | |
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.63488660dup | CA2840631896 | ACE | c.2318dup (p.Met774AspfsTer8) c.596dup (p.Met200AspfsTer8) c.*388dup (n.*388dup) c.577dup (n.577dup) c.*47dup (n.*47dup) c.*238dup (n.*238dup) c.86dup (p.Met30AspfsTer8) n.264dup c.1769dup (p.Met591AspfsTer8) c.656dup (p.Met220AspfsTer8) c.1751dup (p.Met585AspfsTer8) c.1466dup (p.Met490AspfsTer8) c.248dup (p.Met84AspfsTer8) n.696dup | |
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 |
17 | g.63488663T>G | CA400557817 | ACE | c.2321T>G (p.Met774Arg) c.599T>G (p.Met200Arg) c.*391T>G (n.*391T>G) c.580T>G (n.580T>G) c.*50T>G (n.*50T>G) c.*241T>G (n.*241T>G) c.89T>G (p.Met30Arg) n.267T>G c.1772T>G (p.Met591Arg) c.659T>G (p.Met220Arg) c.1754T>G (p.Met585Arg) c.1469T>G (p.Met490Arg) c.251T>G (p.Met84Arg) n.699T>G | |
17 | g.63488664G>A | CA400557818 | ACE | c.2322G>A (p.Met774Ile) c.600G>A (p.Met200Ile) c.*392G>A (n.*392G>A) c.581G>A (n.581G>A) c.*51G>A (n.*51G>A) c.*242G>A (n.*242G>A) c.90G>A (p.Met30Ile) n.268G>A c.1773G>A (p.Met591Ile) c.660G>A (p.Met220Ile) c.1755G>A (p.Met585Ile) c.1470G>A (p.Met490Ile) c.252G>A (p.Met84Ile) n.700G>A | |
17 | g.63488664G>C | CA400557819 | ACE | c.2322G>C (p.Met774Ile) c.600G>C (p.Met200Ile) c.*392G>C (n.*392G>C) c.581G>C (n.581G>C) c.*51G>C (n.*51G>C) c.*242G>C (n.*242G>C) c.90G>C (p.Met30Ile) n.268G>C c.1773G>C (p.Met591Ile) c.660G>C (p.Met220Ile) c.1755G>C (p.Met585Ile) c.1470G>C (p.Met490Ile) c.252G>C (p.Met84Ile) n.700G>C | |
17 | g.63488664G>T | CA400557820 | ACE | c.2322G>T (p.Met774Ile) c.600G>T (p.Met200Ile) c.*392G>T (n.*392G>T) c.581G>T (n.581G>T) c.*51G>T (n.*51G>T) c.*242G>T (n.*242G>T) c.90G>T (p.Met30Ile) n.268G>T c.1773G>T (p.Met591Ile) c.660G>T (p.Met220Ile) c.1755G>T (p.Met585Ile) c.1470G>T (p.Met490Ile) c.252G>T (p.Met84Ile) n.700G>T | |
17 | g.63488665G>A | CA400557823 | ACE | c.2323G>A (p.Ala775Thr) c.601G>A (p.Ala201Thr) c.*393G>A (n.*393G>A) c.582G>A (n.582G>A) c.*52G>A (n.*52G>A) c.*243G>A (n.*243G>A) c.91G>A (p.Ala31Thr) n.269G>A c.1774G>A (p.Ala592Thr) c.661G>A (p.Ala221Thr) c.1756G>A (p.Ala586Thr) c.1471G>A (p.Ala491Thr) c.253G>A (p.Ala85Thr) n.701G>A | |
17 | g.63488665G>C | CA400557822 | ACE | c.2323G>C (p.Ala775Pro) c.601G>C (p.Ala201Pro) c.*393G>C (n.*393G>C) c.582G>C (n.582G>C) c.*52G>C (n.*52G>C) c.*243G>C (n.*243G>C) c.91G>C (p.Ala31Pro) n.269G>C c.1774G>C (p.Ala592Pro) c.661G>C (p.Ala221Pro) c.1756G>C (p.Ala586Pro) c.1471G>C (p.Ala491Pro) c.253G>C (p.Ala85Pro) n.701G>C | |
17 | g.63488665G>T | CA400557821 | ACE | c.2323G>T (p.Ala775Ser) c.601G>T (p.Ala201Ser) c.*393G>T (n.*393G>T) c.582G>T (n.582G>T) c.*52G>T (n.*52G>T) c.*243G>T (n.*243G>T) c.91G>T (p.Ala31Ser) n.269G>T c.1774G>T (p.Ala592Ser) c.661G>T (p.Ala221Ser) c.1756G>T (p.Ala586Ser) c.1471G>T (p.Ala491Ser) c.253G>T (p.Ala85Ser) n.701G>T | |
17 | g.63488666C>A | CA400557824 | ACE | c.2324C>A (p.Ala775Asp) c.602C>A (p.Ala201Asp) c.*394C>A (n.*394C>A) c.583C>A (n.583C>A) c.*53C>A (n.*53C>A) c.*244C>A (n.*244C>A) c.92C>A (p.Ala31Asp) n.270C>A c.1775C>A (p.Ala592Asp) c.662C>A (p.Ala221Asp) c.1757C>A (p.Ala586Asp) c.1472C>A (p.Ala491Asp) c.254C>A (p.Ala85Asp) n.702C>A | gnomAD v4 |
17 | g.63488666C= | CA2269945935 | ACE | c.2324C= (p.Ala775=) c.602C= (p.Ala201=) c.*394C= (n.*394C=) c.583C= (n.583C=) c.*53C= (n.*53C=) c.*244C= (n.*244C=) c.92C= (p.Ala31=) n.270C= c.1775C= (p.Ala592=) c.662C= (p.Ala221=) c.1757C= (p.Ala586=) c.1472C= (p.Ala491=) c.254C= (p.Ala85=) n.702C= | |
17 | g.63488666C>G | CA400557826 | ACE | c.2324C>G (p.Ala775Gly) c.602C>G (p.Ala201Gly) c.*394C>G (n.*394C>G) c.583C>G (n.583C>G) c.*53C>G (n.*53C>G) c.*244C>G (n.*244C>G) c.92C>G (p.Ala31Gly) n.270C>G c.1775C>G (p.Ala592Gly) c.662C>G (p.Ala221Gly) c.1757C>G (p.Ala586Gly) c.1472C>G (p.Ala491Gly) c.254C>G (p.Ala85Gly) n.702C>G | |
17 | g.63488666C>T | CA400557825 | ACE | c.2324C>T (p.Ala775Val) c.602C>T (p.Ala201Val) c.*394C>T (n.*394C>T) c.583C>T (n.583C>T) c.*53C>T (n.*53C>T) c.*244C>T (n.*244C>T) c.92C>T (p.Ala31Val) n.270C>T c.1775C>T (p.Ala592Val) c.662C>T (p.Ala221Val) c.1757C>T (p.Ala586Val) c.1472C>T (p.Ala491Val) c.254C>T (p.Ala85Val) n.702C>T | dbSNP gnomAD v2 COSMIC COSMIC COSMIC |
17 | g.63488667C>A | CA501186741 | ACE | c.2325C>A (p.Ala775=) c.603C>A (p.Ala201=) c.*395C>A (n.*395C>A) c.584C>A (n.584C>A) c.*54C>A (n.*54C>A) c.*245C>A (n.*245C>A) c.93C>A (p.Ala31=) n.271C>A c.1776C>A (p.Ala592=) c.663C>A (p.Ala221=) c.1758C>A (p.Ala586=) c.1473C>A (p.Ala491=) c.255C>A (p.Ala85=) n.703C>A | |
17 | g.63488667C>G | CA501186742 | ACE | c.2325C>G (p.Ala775=) c.603C>G (p.Ala201=) c.*395C>G (n.*395C>G) c.584C>G (n.584C>G) c.*54C>G (n.*54C>G) c.*245C>G (n.*245C>G) c.93C>G (p.Ala31=) n.271C>G c.1776C>G (p.Ala592=) c.663C>G (p.Ala221=) c.1758C>G (p.Ala586=) c.1473C>G (p.Ala491=) c.255C>G (p.Ala85=) n.703C>G | |
17 | g.63488667C>T | CA501186745 | ACE | c.2325C>T (p.Ala775=) c.603C>T (p.Ala201=) c.*395C>T (n.*395C>T) c.584C>T (n.584C>T) c.*54C>T (n.*54C>T) c.*245C>T (n.*245C>T) c.93C>T (p.Ala31=) n.271C>T c.1776C>T (p.Ala592=) c.663C>T (p.Ala221=) c.1758C>T (p.Ala586=) c.1473C>T (p.Ala491=) c.255C>T (p.Ala85=) n.703C>T | |
17 | g.63488668A= | CA2269945936 | ACE | c.2326A= (p.Thr776=) c.604A= (p.Thr202=) c.*396A= (n.*396A=) c.585A= (n.585A=) c.*55A= (n.*55A=) c.*246A= (n.*246A=) c.94A= (p.Thr32=) n.272A= c.1777A= (p.Thr593=) c.664A= (p.Thr222=) c.1759A= (p.Thr587=) c.1474A= (p.Thr492=) c.256A= (p.Thr86=) n.704A= | |
17 | g.63488668A>C | CA400557827 | ACE | c.2326A>C (p.Thr776Pro) c.604A>C (p.Thr202Pro) c.*396A>C (n.*396A>C) c.585A>C (n.585A>C) c.*55A>C (n.*55A>C) c.*246A>C (n.*246A>C) c.94A>C (p.Thr32Pro) n.272A>C c.1777A>C (p.Thr593Pro) c.664A>C (p.Thr222Pro) c.1759A>C (p.Thr587Pro) c.1474A>C (p.Thr492Pro) c.256A>C (p.Thr86Pro) n.704A>C | |
17 | g.63488668A>G | CA8700061 | ACE | c.2326A>G (p.Thr776Ala) c.604A>G (p.Thr202Ala) c.*396A>G (n.*396A>G) c.585A>G (n.585A>G) c.*55A>G (n.*55A>G) c.*246A>G (n.*246A>G) c.94A>G (p.Thr32Ala) n.272A>G c.1777A>G (p.Thr593Ala) c.664A>G (p.Thr222Ala) c.1759A>G (p.Thr587Ala) c.1474A>G (p.Thr492Ala) c.256A>G (p.Thr86Ala) n.704A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488668A>T | CA400557828 | ACE | c.2326A>T (p.Thr776Ser) c.604A>T (p.Thr202Ser) c.*396A>T (n.*396A>T) c.585A>T (n.585A>T) c.*55A>T (n.*55A>T) c.*246A>T (n.*246A>T) c.94A>T (p.Thr32Ser) n.272A>T c.1777A>T (p.Thr593Ser) c.664A>T (p.Thr222Ser) c.1759A>T (p.Thr587Ser) c.1474A>T (p.Thr492Ser) c.256A>T (p.Thr86Ser) n.704A>T | |
17 | g.63488669C>A | CA400557829 | ACE | c.2327C>A (p.Thr776Lys) c.605C>A (p.Thr202Lys) c.*397C>A (n.*397C>A) c.586C>A (n.586C>A) c.*56C>A (n.*56C>A) c.*247C>A (n.*247C>A) c.95C>A (p.Thr32Lys) n.273C>A c.1778C>A (p.Thr593Lys) c.665C>A (p.Thr222Lys) c.1760C>A (p.Thr587Lys) c.1475C>A (p.Thr492Lys) c.257C>A (p.Thr86Lys) n.705C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488669C= | CA2269945937 | ACE | c.2327C= (p.Thr776=) c.605C= (p.Thr202=) c.*397C= (n.*397C=) c.586C= (n.586C=) c.*56C= (n.*56C=) c.*247C= (n.*247C=) c.95C= (p.Thr32=) n.273C= c.1778C= (p.Thr593=) c.665C= (p.Thr222=) c.1760C= (p.Thr587=) c.1475C= (p.Thr492=) c.257C= (p.Thr86=) n.705C= | |
17 | g.63488669C>G | CA400557830 | ACE | c.2327C>G (p.Thr776Arg) c.605C>G (p.Thr202Arg) c.*397C>G (n.*397C>G) c.586C>G (n.586C>G) c.*56C>G (n.*56C>G) c.*247C>G (n.*247C>G) c.95C>G (p.Thr32Arg) n.273C>G c.1778C>G (p.Thr593Arg) c.665C>G (p.Thr222Arg) c.1760C>G (p.Thr587Arg) c.1475C>G (p.Thr492Arg) c.257C>G (p.Thr86Arg) n.705C>G | |
17 | g.63488669C>T | CA8700062 | ACE | c.2327C>T (p.Thr776Met) c.605C>T (p.Thr202Met) c.*397C>T (n.*397C>T) c.586C>T (n.586C>T) c.*56C>T (n.*56C>T) c.*247C>T (n.*247C>T) c.95C>T (p.Thr32Met) n.273C>T c.1778C>T (p.Thr593Met) c.665C>T (p.Thr222Met) c.1760C>T (p.Thr587Met) c.1475C>T (p.Thr492Met) c.257C>T (p.Thr86Met) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488670G>A | CA8700063 | ACE | c.2328G>A (p.Thr776=) c.606G>A (p.Thr202=) c.*398G>A (n.*398G>A) c.587G>A (n.587G>A) c.*57G>A (n.*57G>A) c.*248G>A (n.*248G>A) c.96G>A (p.Thr32=) n.274G>A c.1779G>A (p.Thr593=) c.666G>A (p.Thr222=) c.1761G>A (p.Thr587=) c.1476G>A (p.Thr492=) c.258G>A (p.Thr86=) n.706G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488670G>C | CA501186757 | ACE | c.2328G>C (p.Thr776=) c.606G>C (p.Thr202=) c.*398G>C (n.*398G>C) c.587G>C (n.587G>C) c.*57G>C (n.*57G>C) c.*248G>C (n.*248G>C) c.96G>C (p.Thr32=) n.274G>C c.1779G>C (p.Thr593=) c.666G>C (p.Thr222=) c.1761G>C (p.Thr587=) c.1476G>C (p.Thr492=) c.258G>C (p.Thr86=) n.706G>C | gnomAD v3 gnomAD v4 |
17 | g.63488670G= | CA2269945938 | ACE | c.2328G= (p.Thr776=) c.606G= (p.Thr202=) c.*398G= (n.*398G=) c.587G= (n.587G=) c.*57G= (n.*57G=) c.*248G= (n.*248G=) c.96G= (p.Thr32=) n.274G= c.1779G= (p.Thr593=) c.666G= (p.Thr222=) c.1761G= (p.Thr587=) c.1476G= (p.Thr492=) c.258G= (p.Thr86=) n.706G= | |
17 | g.63488670G>T | CA501186763 | ACE | c.2328G>T (p.Thr776=) c.606G>T (p.Thr202=) c.*398G>T (n.*398G>T) c.587G>T (n.587G>T) c.*57G>T (n.*57G>T) c.*248G>T (n.*248G>T) c.96G>T (p.Thr32=) n.274G>T c.1779G>T (p.Thr593=) c.666G>T (p.Thr222=) c.1761G>T (p.Thr587=) c.1476G>T (p.Thr492=) c.258G>T (p.Thr86=) n.706G>T | gnomAD v4 |
17 | g.63488671T>A | CA400557833 | ACE | c.2329T>A (p.Ser777Thr) c.607T>A (p.Ser203Thr) c.*399T>A (n.*399T>A) c.588T>A (n.588T>A) c.*58T>A (n.*58T>A) c.*249T>A (n.*249T>A) c.97T>A (p.Ser33Thr) n.275T>A c.1780T>A (p.Ser594Thr) c.667T>A (p.Ser223Thr) c.1762T>A (p.Ser588Thr) c.1477T>A (p.Ser493Thr) c.259T>A (p.Ser87Thr) n.707T>A | |
17 | g.63488671T>C | CA400557831 | ACE | c.2329T>C (p.Ser777Pro) c.607T>C (p.Ser203Pro) c.*399T>C (n.*399T>C) c.588T>C (n.588T>C) c.*58T>C (n.*58T>C) c.*249T>C (n.*249T>C) c.97T>C (p.Ser33Pro) n.275T>C c.1780T>C (p.Ser594Pro) c.667T>C (p.Ser223Pro) c.1762T>C (p.Ser588Pro) c.1477T>C (p.Ser493Pro) c.259T>C (p.Ser87Pro) n.707T>C | |
17 | g.63488671T>G | CA400557832 | ACE | c.2329T>G (p.Ser777Ala) c.607T>G (p.Ser203Ala) c.*399T>G (n.*399T>G) c.588T>G (n.588T>G) c.*58T>G (n.*58T>G) c.*249T>G (n.*249T>G) c.97T>G (p.Ser33Ala) n.275T>G c.1780T>G (p.Ser594Ala) c.667T>G (p.Ser223Ala) c.1762T>G (p.Ser588Ala) c.1477T>G (p.Ser493Ala) c.259T>G (p.Ser87Ala) n.707T>G | |
17 | g.63488672C>A | CA400557834 | ACE | c.2330C>A (p.Ser777Tyr) c.608C>A (p.Ser203Tyr) c.*400C>A (n.*400C>A) c.589C>A (n.589C>A) c.*59C>A (n.*59C>A) c.*250C>A (n.*250C>A) c.98C>A (p.Ser33Tyr) n.276C>A c.1781C>A (p.Ser594Tyr) c.668C>A (p.Ser223Tyr) c.1763C>A (p.Ser588Tyr) c.1478C>A (p.Ser493Tyr) c.260C>A (p.Ser87Tyr) n.708C>A | |
17 | g.63488672C>G | CA400557835 | ACE | c.2330C>G (p.Ser777Cys) c.608C>G (p.Ser203Cys) c.*400C>G (n.*400C>G) c.589C>G (n.589C>G) c.*59C>G (n.*59C>G) c.*250C>G (n.*250C>G) c.98C>G (p.Ser33Cys) n.276C>G c.1781C>G (p.Ser594Cys) c.668C>G (p.Ser223Cys) c.1763C>G (p.Ser588Cys) c.1478C>G (p.Ser493Cys) c.260C>G (p.Ser87Cys) n.708C>G | |
17 | g.63488672C>T | CA400557836 | ACE | c.2330C>T (p.Ser777Phe) c.608C>T (p.Ser203Phe) c.*400C>T (n.*400C>T) c.589C>T (n.589C>T) c.*59C>T (n.*59C>T) c.*250C>T (n.*250C>T) c.98C>T (p.Ser33Phe) n.276C>T c.1781C>T (p.Ser594Phe) c.668C>T (p.Ser223Phe) c.1763C>T (p.Ser588Phe) c.1478C>T (p.Ser493Phe) c.260C>T (p.Ser87Phe) n.708C>T | |
17 | g.63488673C>A | CA501186775 | ACE | c.2331C>A (p.Ser777=) c.609C>A (p.Ser203=) c.*401C>A (n.*401C>A) c.590C>A (n.590C>A) c.*60C>A (n.*60C>A) c.*251C>A (n.*251C>A) c.99C>A (p.Ser33=) n.277C>A c.1782C>A (p.Ser594=) c.669C>A (p.Ser223=) c.1764C>A (p.Ser588=) c.1479C>A (p.Ser493=) c.261C>A (p.Ser87=) n.709C>A | |
17 | g.63488673C>G | CA501186777 | ACE | c.2331C>G (p.Ser777=) c.609C>G (p.Ser203=) c.*401C>G (n.*401C>G) c.590C>G (n.590C>G) c.*60C>G (n.*60C>G) c.*251C>G (n.*251C>G) c.99C>G (p.Ser33=) n.277C>G c.1782C>G (p.Ser594=) c.669C>G (p.Ser223=) c.1764C>G (p.Ser588=) c.1479C>G (p.Ser493=) c.261C>G (p.Ser87=) n.709C>G | |
17 | g.63488673C>T | CA501186779 | ACE | c.2331C>T (p.Ser777=) c.609C>T (p.Ser203=) c.*401C>T (n.*401C>T) c.590C>T (n.590C>T) c.*60C>T (n.*60C>T) c.*251C>T (n.*251C>T) c.99C>T (p.Ser33=) n.277C>T c.1782C>T (p.Ser594=) c.669C>T (p.Ser223=) c.1764C>T (p.Ser588=) c.1479C>T (p.Ser493=) c.261C>T (p.Ser87=) n.709C>T | |
17 | g.63488674C>A | CA501186782 | ACE | c.2332C>A (p.Arg778=) c.610C>A (p.Arg204=) c.*402C>A (n.*402C>A) c.591C>A (n.591C>A) c.*61C>A (n.*61C>A) c.*252C>A (n.*252C>A) c.100C>A (p.Arg34=) n.278C>A c.1783C>A (p.Arg595=) c.670C>A (p.Arg224=) c.1765C>A (p.Arg589=) c.1480C>A (p.Arg494=) c.262C>A (p.Arg88=) n.710C>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488674C= | CA2269945939 | ACE | c.2332C= (p.Arg778=) c.610C= (p.Arg204=) c.*402C= (n.*402C=) c.591C= (n.591C=) c.*61C= (n.*61C=) c.*252C= (n.*252C=) c.100C= (p.Arg34=) n.278C= c.1783C= (p.Arg595=) c.670C= (p.Arg224=) c.1765C= (p.Arg589=) c.1480C= (p.Arg494=) c.262C= (p.Arg88=) n.710C= | |
17 | g.63488674C>G | CA400557837 | ACE | c.2332C>G (p.Arg778Gly) c.610C>G (p.Arg204Gly) c.*402C>G (n.*402C>G) c.591C>G (n.591C>G) c.*61C>G (n.*61C>G) c.*252C>G (n.*252C>G) c.100C>G (p.Arg34Gly) n.278C>G c.1783C>G (p.Arg595Gly) c.670C>G (p.Arg224Gly) c.1765C>G (p.Arg589Gly) c.1480C>G (p.Arg494Gly) c.262C>G (p.Arg88Gly) n.710C>G | |
17 | g.63488674C>T | CA8700064 | ACE | c.2332C>T (p.Arg778Trp) c.610C>T (p.Arg204Trp) c.*402C>T (n.*402C>T) c.591C>T (n.591C>T) c.*61C>T (n.*61C>T) c.*252C>T (n.*252C>T) c.100C>T (p.Arg34Trp) n.278C>T c.1783C>T (p.Arg595Trp) c.670C>T (p.Arg224Trp) c.1765C>T (p.Arg589Trp) c.1480C>T (p.Arg494Trp) c.262C>T (p.Arg88Trp) n.710C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488674_63488675insA | CA985411642 | ACE | c.2332_2333insA (p.Arg778GlnfsTer4) c.610_611insA (p.Arg204GlnfsTer4) c.*402_*403insA (n.*402_*403insA) c.591_592insA (n.591_592insA) c.*61_*62insA (n.*61_*62insA) c.*252_*253insA (n.*252_*253insA) c.100_101insA (p.Arg34GlnfsTer4) n.278_279insA c.1783_1784insA (p.Arg595GlnfsTer4) c.670_671insA (p.Arg224GlnfsTer4) c.1765_1766insA (p.Arg589GlnfsTer4) c.1480_1481insA (p.Arg494GlnfsTer4) c.262_263insA (p.Arg88GlnfsTer4) n.710_711insA | gnomAD v3 gnomAD v4 |
17 | g.63488675G>A | CA8700065 | ACE | c.2333G>A (p.Arg778Gln) c.611G>A (p.Arg204Gln) c.*403G>A (n.*403G>A) c.592G>A (n.592G>A) c.*62G>A (n.*62G>A) c.*253G>A (n.*253G>A) c.101G>A (p.Arg34Gln) n.279G>A c.1784G>A (p.Arg595Gln) c.671G>A (p.Arg224Gln) c.1766G>A (p.Arg589Gln) c.1481G>A (p.Arg494Gln) c.263G>A (p.Arg88Gln) n.711G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
17 | g.63488675G>C | CA400557839 | ACE | c.2333G>C (p.Arg778Pro) c.611G>C (p.Arg204Pro) c.*403G>C (n.*403G>C) c.592G>C (n.592G>C) c.*62G>C (n.*62G>C) c.*253G>C (n.*253G>C) c.101G>C (p.Arg34Pro) n.279G>C c.1784G>C (p.Arg595Pro) c.671G>C (p.Arg224Pro) c.1766G>C (p.Arg589Pro) c.1481G>C (p.Arg494Pro) c.263G>C (p.Arg88Pro) n.711G>C | gnomAD v4 |
17 | g.63488675G= | CA2269945940 | ACE | c.2333G= (p.Arg778=) c.611G= (p.Arg204=) c.*403G= (n.*403G=) c.592G= (n.592G=) c.*62G= (n.*62G=) c.*253G= (n.*253G=) c.101G= (p.Arg34=) n.279G= c.1784G= (p.Arg595=) c.671G= (p.Arg224=) c.1766G= (p.Arg589=) c.1481G= (p.Arg494=) c.263G= (p.Arg88=) n.711G= | |
17 | g.63488675G>T | CA400557838 | ACE | c.2333G>T (p.Arg778Leu) c.611G>T (p.Arg204Leu) c.*403G>T (n.*403G>T) c.592G>T (n.592G>T) c.*62G>T (n.*62G>T) c.*253G>T (n.*253G>T) c.101G>T (p.Arg34Leu) n.279G>T c.1784G>T (p.Arg595Leu) c.671G>T (p.Arg224Leu) c.1766G>T (p.Arg589Leu) c.1481G>T (p.Arg494Leu) c.263G>T (p.Arg88Leu) n.711G>T | |
17 | g.63488676dup | CA2839105575 | ACE | c.2334dup (p.Lys779GlufsTer3) c.612dup (p.Lys205GlufsTer3) c.*404dup (n.*404dup) c.593dup (n.593dup) c.*63dup (n.*63dup) c.*254dup (n.*254dup) c.102dup (p.Lys35GlufsTer3) n.280dup c.1785dup (p.Lys596GlufsTer3) c.672dup (p.Lys225GlufsTer3) c.1767dup (p.Lys590GlufsTer3) c.1482dup (p.Lys495GlufsTer3) c.264dup (p.Lys89GlufsTer3) n.712dup | |
17 | g.63488676G>A | CA501186793 | ACE | c.2334G>A (p.Arg778=) c.612G>A (p.Arg204=) c.*404G>A (n.*404G>A) c.593G>A (n.593G>A) c.*63G>A (n.*63G>A) c.*254G>A (n.*254G>A) c.102G>A (p.Arg34=) n.280G>A c.1785G>A (p.Arg595=) c.672G>A (p.Arg224=) c.1767G>A (p.Arg589=) c.1482G>A (p.Arg494=) c.264G>A (p.Arg88=) n.712G>A | |
17 | g.63488676G>C | CA501186795 | ACE | c.2334G>C (p.Arg778=) c.612G>C (p.Arg204=) c.*404G>C (n.*404G>C) c.593G>C (n.593G>C) c.*63G>C (n.*63G>C) c.*254G>C (n.*254G>C) c.102G>C (p.Arg34=) n.280G>C c.1785G>C (p.Arg595=) c.672G>C (p.Arg224=) c.1767G>C (p.Arg589=) c.1482G>C (p.Arg494=) c.264G>C (p.Arg88=) n.712G>C | |
17 | g.63488676G>T | CA501186798 | ACE | c.2334G>T (p.Arg778=) c.612G>T (p.Arg204=) c.*404G>T (n.*404G>T) c.593G>T (n.593G>T) c.*63G>T (n.*63G>T) c.*254G>T (n.*254G>T) c.102G>T (p.Arg34=) n.280G>T c.1785G>T (p.Arg595=) c.672G>T (p.Arg224=) c.1767G>T (p.Arg589=) c.1482G>T (p.Arg494=) c.264G>T (p.Arg88=) n.712G>T | |
17 | g.63488677A>C | CA400557840 | ACE | c.2335A>C (p.Lys779Gln) c.613A>C (p.Lys205Gln) c.*405A>C (n.*405A>C) c.594A>C (n.594A>C) c.*64A>C (n.*64A>C) c.*255A>C (n.*255A>C) c.103A>C (p.Lys35Gln) n.281A>C c.1786A>C (p.Lys596Gln) c.673A>C (p.Lys225Gln) c.1768A>C (p.Lys590Gln) c.1483A>C (p.Lys495Gln) c.265A>C (p.Lys89Gln) n.713A>C | |
17 | g.63488677A>G | CA400557841 | ACE | c.2335A>G (p.Lys779Glu) c.613A>G (p.Lys205Glu) c.*405A>G (n.*405A>G) c.594A>G (n.594A>G) c.*64A>G (n.*64A>G) c.*255A>G (n.*255A>G) c.103A>G (p.Lys35Glu) n.281A>G c.1786A>G (p.Lys596Glu) c.673A>G (p.Lys225Glu) c.1768A>G (p.Lys590Glu) c.1483A>G (p.Lys495Glu) c.265A>G (p.Lys89Glu) n.713A>G | |
17 | g.63488677A>T | CA400557842 | ACE | c.2335A>T (p.Lys779Ter) c.613A>T (p.Lys205Ter) c.*405A>T (n.*405A>T) c.594A>T (n.594A>T) c.*64A>T (n.*64A>T) c.*255A>T (n.*255A>T) c.103A>T (p.Lys35Ter) n.281A>T c.1786A>T (p.Lys596Ter) c.673A>T (p.Lys225Ter) c.1768A>T (p.Lys590Ter) c.1483A>T (p.Lys495Ter) c.265A>T (p.Lys89Ter) n.713A>T | gnomAD v4 |
17 | g.63488677_63488688del | CA985411674 | ACE | c.2335_2346del (p.Lys779_Asp782del) c.613_624del (p.Lys205_Asp208del) c.*405_*416del (n.*405_*416del) c.594_605del (n.594_605del) c.*64_*75del (n.*64_*75del) c.*255_*266del (n.*255_*266del) c.103_114del (p.Lys35_Asp38del) n.281_292del c.1786_1797del (p.Lys596_Asp599del) c.673_684del (p.Lys225_Asp228del) c.1768_1779del (p.Lys590_Asp593del) c.1483_1494del (p.Lys495_Asp498del) c.265_276del (p.Lys89_Asp92del) n.713_724del | gnomAD v3 gnomAD v4 |
17 | g.63488678A>C | CA400557843 | ACE | c.2336A>C (p.Lys779Thr) c.614A>C (p.Lys205Thr) c.*406A>C (n.*406A>C) c.595A>C (n.595A>C) c.*65A>C (n.*65A>C) c.*256A>C (n.*256A>C) c.104A>C (p.Lys35Thr) n.282A>C c.1787A>C (p.Lys596Thr) c.674A>C (p.Lys225Thr) c.1769A>C (p.Lys590Thr) c.1484A>C (p.Lys495Thr) c.266A>C (p.Lys89Thr) n.714A>C | |
17 | g.63488678A>G | CA400557844 | ACE | c.2336A>G (p.Lys779Arg) c.614A>G (p.Lys205Arg) c.*406A>G (n.*406A>G) c.595A>G (n.595A>G) c.*65A>G (n.*65A>G) c.*256A>G (n.*256A>G) c.104A>G (p.Lys35Arg) n.282A>G c.1787A>G (p.Lys596Arg) c.674A>G (p.Lys225Arg) c.1769A>G (p.Lys590Arg) c.1484A>G (p.Lys495Arg) c.266A>G (p.Lys89Arg) n.714A>G | |
17 | g.63488678A>T | CA400557845 | ACE | c.2336A>T (p.Lys779Ile) c.614A>T (p.Lys205Ile) c.*406A>T (n.*406A>T) c.595A>T (n.595A>T) c.*65A>T (n.*65A>T) c.*256A>T (n.*256A>T) c.104A>T (p.Lys35Ile) n.282A>T c.1787A>T (p.Lys596Ile) c.674A>T (p.Lys225Ile) c.1769A>T (p.Lys590Ile) c.1484A>T (p.Lys495Ile) c.266A>T (p.Lys89Ile) n.714A>T | |
17 | g.63488679A>C | CA400557846 | ACE | c.2337A>C (p.Lys779Asn) c.615A>C (p.Lys205Asn) c.*407A>C (n.*407A>C) c.596A>C (n.596A>C) c.*66A>C (n.*66A>C) c.*257A>C (n.*257A>C) c.105A>C (p.Lys35Asn) n.283A>C c.1788A>C (p.Lys596Asn) c.675A>C (p.Lys225Asn) c.1770A>C (p.Lys590Asn) c.1485A>C (p.Lys495Asn) c.267A>C (p.Lys89Asn) n.715A>C | |
17 | g.63488679A>G | CA501186810 | ACE | c.2337A>G (p.Lys779=) c.615A>G (p.Lys205=) c.*407A>G (n.*407A>G) c.596A>G (n.596A>G) c.*66A>G (n.*66A>G) c.*257A>G (n.*257A>G) c.105A>G (p.Lys35=) n.283A>G c.1788A>G (p.Lys596=) c.675A>G (p.Lys225=) c.1770A>G (p.Lys590=) c.1485A>G (p.Lys495=) c.267A>G (p.Lys89=) n.715A>G | |
17 | g.63488679A>T | CA400557847 | ACE | c.2337A>T (p.Lys779Asn) c.615A>T (p.Lys205Asn) c.*407A>T (n.*407A>T) c.596A>T (n.596A>T) c.*66A>T (n.*66A>T) c.*257A>T (n.*257A>T) c.105A>T (p.Lys35Asn) n.283A>T c.1788A>T (p.Lys596Asn) c.675A>T (p.Lys225Asn) c.1770A>T (p.Lys590Asn) c.1485A>T (p.Lys495Asn) c.267A>T (p.Lys89Asn) n.715A>T | |
17 | g.63488680T>A | CA400557848 | ACE | c.2338T>A (p.Tyr780Asn) c.616T>A (p.Tyr206Asn) c.*408T>A (n.*408T>A) c.597T>A (n.597T>A) c.*67T>A (n.*67T>A) c.*258T>A (n.*258T>A) c.106T>A (p.Tyr36Asn) n.284T>A c.1789T>A (p.Tyr597Asn) c.676T>A (p.Tyr226Asn) c.1771T>A (p.Tyr591Asn) c.1486T>A (p.Tyr496Asn) c.268T>A (p.Tyr90Asn) n.716T>A | |
17 | g.63488680T>C | CA400557849 | ACE | c.2338T>C (p.Tyr780His) c.616T>C (p.Tyr206His) c.*408T>C (n.*408T>C) c.597T>C (n.597T>C) c.*67T>C (n.*67T>C) c.*258T>C (n.*258T>C) c.106T>C (p.Tyr36His) n.284T>C c.1789T>C (p.Tyr597His) c.676T>C (p.Tyr226His) c.1771T>C (p.Tyr591His) c.1486T>C (p.Tyr496His) c.268T>C (p.Tyr90His) n.716T>C | gnomAD v4 |
17 | g.63488680T>G | CA400557850 | ACE | c.2338T>G (p.Tyr780Asp) c.616T>G (p.Tyr206Asp) c.*408T>G (n.*408T>G) c.597T>G (n.597T>G) c.*67T>G (n.*67T>G) c.*258T>G (n.*258T>G) c.106T>G (p.Tyr36Asp) n.284T>G c.1789T>G (p.Tyr597Asp) c.676T>G (p.Tyr226Asp) c.1771T>G (p.Tyr591Asp) c.1486T>G (p.Tyr496Asp) c.268T>G (p.Tyr90Asp) n.716T>G | |
17 | g.63488681A>C | CA400557851 | ACE | c.2339A>C (p.Tyr780Ser) c.617A>C (p.Tyr206Ser) c.*409A>C (n.*409A>C) c.598A>C (n.598A>C) c.*68A>C (n.*68A>C) c.*259A>C (n.*259A>C) c.107A>C (p.Tyr36Ser) n.285A>C c.1790A>C (p.Tyr597Ser) c.677A>C (p.Tyr226Ser) c.1772A>C (p.Tyr591Ser) c.1487A>C (p.Tyr496Ser) c.269A>C (p.Tyr90Ser) n.717A>C | |
17 | g.63488681A>G | CA400557853 | ACE | c.2339A>G (p.Tyr780Cys) c.617A>G (p.Tyr206Cys) c.*409A>G (n.*409A>G) c.598A>G (n.598A>G) c.*68A>G (n.*68A>G) c.*259A>G (n.*259A>G) c.107A>G (p.Tyr36Cys) n.285A>G c.1790A>G (p.Tyr597Cys) c.677A>G (p.Tyr226Cys) c.1772A>G (p.Tyr591Cys) c.1487A>G (p.Tyr496Cys) c.269A>G (p.Tyr90Cys) n.717A>G | gnomAD v4 |
17 | g.63488681A>T | CA400557852 | ACE | c.2339A>T (p.Tyr780Phe) c.617A>T (p.Tyr206Phe) c.*409A>T (n.*409A>T) c.598A>T (n.598A>T) c.*68A>T (n.*68A>T) c.*259A>T (n.*259A>T) c.107A>T (p.Tyr36Phe) n.285A>T c.1790A>T (p.Tyr597Phe) c.677A>T (p.Tyr226Phe) c.1772A>T (p.Tyr591Phe) c.1487A>T (p.Tyr496Phe) c.269A>T (p.Tyr90Phe) n.717A>T | |
17 | g.63488682T>A | CA400557854 | ACE | c.2340T>A (p.Tyr780Ter) c.618T>A (p.Tyr206Ter) c.*410T>A (n.*410T>A) c.599T>A (n.599T>A) c.*69T>A (n.*69T>A) c.*260T>A (n.*260T>A) c.108T>A (p.Tyr36Ter) n.286T>A c.1791T>A (p.Tyr597Ter) c.678T>A (p.Tyr226Ter) c.1773T>A (p.Tyr591Ter) c.1488T>A (p.Tyr496Ter) c.270T>A (p.Tyr90Ter) n.718T>A | |
17 | g.63488682T>C | CA8700066 | ACE | c.2340T>C (p.Tyr780=) c.618T>C (p.Tyr206=) c.*410T>C (n.*410T>C) c.599T>C (n.599T>C) c.*69T>C (n.*69T>C) c.*260T>C (n.*260T>C) c.108T>C (p.Tyr36=) n.286T>C c.1791T>C (p.Tyr597=) c.678T>C (p.Tyr226=) c.1773T>C (p.Tyr591=) c.1488T>C (p.Tyr496=) c.270T>C (p.Tyr90=) n.718T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488682T>G | CA400557855 | ACE | c.2340T>G (p.Tyr780Ter) c.618T>G (p.Tyr206Ter) c.*410T>G (n.*410T>G) c.599T>G (n.599T>G) c.*69T>G (n.*69T>G) c.*260T>G (n.*260T>G) c.108T>G (p.Tyr36Ter) n.286T>G c.1791T>G (p.Tyr597Ter) c.678T>G (p.Tyr226Ter) c.1773T>G (p.Tyr591Ter) c.1488T>G (p.Tyr496Ter) c.270T>G (p.Tyr90Ter) n.718T>G | |
17 | g.63488682T= | CA2269945941 | ACE | c.2340T= (p.Tyr780=) c.618T= (p.Tyr206=) c.*410T= (n.*410T=) c.599T= (n.599T=) c.*69T= (n.*69T=) c.*260T= (n.*260T=) c.108T= (p.Tyr36=) n.286T= c.1791T= (p.Tyr597=) c.678T= (p.Tyr226=) c.1773T= (p.Tyr591=) c.1488T= (p.Tyr496=) c.270T= (p.Tyr90=) n.718T= | |
17 | g.63488683G>A | CA400557856 | ACE | c.2341G>A (p.Glu781Lys) c.619G>A (p.Glu207Lys) c.*411G>A (n.*411G>A) c.600G>A (n.600G>A) c.*70G>A (n.*70G>A) c.*261G>A (n.*261G>A) c.109G>A (p.Glu37Lys) n.287G>A c.1792G>A (p.Glu598Lys) c.679G>A (p.Glu227Lys) c.1774G>A (p.Glu592Lys) c.1489G>A (p.Glu497Lys) c.271G>A (p.Glu91Lys) n.719G>A | gnomAD v4 |
17 | g.63488683G>C | CA400557857 | ACE | c.2341G>C (p.Glu781Gln) c.619G>C (p.Glu207Gln) c.*411G>C (n.*411G>C) c.600G>C (n.600G>C) c.*70G>C (n.*70G>C) c.*261G>C (n.*261G>C) c.109G>C (p.Glu37Gln) n.287G>C c.1792G>C (p.Glu598Gln) c.679G>C (p.Glu227Gln) c.1774G>C (p.Glu592Gln) c.1489G>C (p.Glu497Gln) c.271G>C (p.Glu91Gln) n.719G>C | |
17 | g.63488683G>T | CA400557858 | ACE | c.2341G>T (p.Glu781Ter) c.619G>T (p.Glu207Ter) c.*411G>T (n.*411G>T) c.600G>T (n.600G>T) c.*70G>T (n.*70G>T) c.*261G>T (n.*261G>T) c.109G>T (p.Glu37Ter) n.287G>T c.1792G>T (p.Glu598Ter) c.679G>T (p.Glu227Ter) c.1774G>T (p.Glu592Ter) c.1489G>T (p.Glu497Ter) c.271G>T (p.Glu91Ter) n.719G>T | |
17 | g.63488683_63488687delinsGAAGA | CA2269945942 | ACE | c.2341_2345delinsGAAGA (p.Glu781=) c.619_623delinsGAAGA (p.Glu207=) c.*411_*415delinsGAAGA (n.*411_*415delinsGAAGA) c.600_604delinsGAAGA (n.600_604delinsGAAGA) c.*70_*74delinsGAAGA (n.*70_*74delinsGAAGA) c.*261_*265delinsGAAGA (n.*261_*265delinsGAAGA) c.109_113delinsGAAGA (p.Glu37=) n.287_291delinsGAAGA c.1792_1796delinsGAAGA (p.Glu598=) c.679_683delinsGAAGA (p.Glu227=) c.1774_1778delinsGAAGA (p.Glu592=) c.1489_1493delinsGAAGA (p.Glu497=) c.271_275delinsGAAGA (p.Glu91=) n.719_723delinsGAAGA | |
17 | g.63488684A>C | CA400557859 | ACE | c.2342A>C (p.Glu781Ala) c.620A>C (p.Glu207Ala) c.*412A>C (n.*412A>C) c.601A>C (n.601A>C) c.*71A>C (n.*71A>C) c.*262A>C (n.*262A>C) c.110A>C (p.Glu37Ala) n.288A>C c.1793A>C (p.Glu598Ala) c.680A>C (p.Glu227Ala) c.1775A>C (p.Glu592Ala) c.1490A>C (p.Glu497Ala) c.272A>C (p.Glu91Ala) n.720A>C | |
17 | g.63488684A>G | CA400557860 | ACE | c.2342A>G (p.Glu781Gly) c.620A>G (p.Glu207Gly) c.*412A>G (n.*412A>G) c.601A>G (n.601A>G) c.*71A>G (n.*71A>G) c.*262A>G (n.*262A>G) c.110A>G (p.Glu37Gly) n.288A>G c.1793A>G (p.Glu598Gly) c.680A>G (p.Glu227Gly) c.1775A>G (p.Glu592Gly) c.1490A>G (p.Glu497Gly) c.272A>G (p.Glu91Gly) n.720A>G | |
17 | g.63488684A>T | CA400557861 | ACE | c.2342A>T (p.Glu781Val) c.620A>T (p.Glu207Val) c.*412A>T (n.*412A>T) c.601A>T (n.601A>T) c.*71A>T (n.*71A>T) c.*262A>T (n.*262A>T) c.110A>T (p.Glu37Val) n.288A>T c.1793A>T (p.Glu598Val) c.680A>T (p.Glu227Val) c.1775A>T (p.Glu592Val) c.1490A>T (p.Glu497Val) c.272A>T (p.Glu91Val) n.720A>T | |
17 | g.63488684_63488687del | CA2269945943 | ACE | c.2342_2345del (p.Glu781AlafsTer?) c.620_623del (p.Glu207AlafsTer?) c.*412_*415del (n.*412_*415del) c.601_604del (n.601_604del) c.*71_*74del (n.*71_*74del) c.*262_*265del (n.*262_*265del) c.110_113del (p.Glu37AlafsTer?) n.288_291del c.1793_1796del (p.Glu598AlafsTer?) c.680_683del (p.Glu227AlafsTer?) c.1775_1778del (p.Glu592AlafsTer?) c.1490_1493del (p.Glu497AlafsTer?) c.272_275del (p.Glu91AlafsTer?) n.720_723del | dbSNP gnomAD v4 |
17 | g.63488685A>C | CA400557862 | ACE | c.2343A>C (p.Glu781Asp) c.621A>C (p.Glu207Asp) c.*413A>C (n.*413A>C) c.602A>C (n.602A>C) c.*72A>C (n.*72A>C) c.*263A>C (n.*263A>C) c.111A>C (p.Glu37Asp) n.289A>C c.1794A>C (p.Glu598Asp) c.681A>C (p.Glu227Asp) c.1776A>C (p.Glu592Asp) c.1491A>C (p.Glu497Asp) c.273A>C (p.Glu91Asp) n.721A>C | gnomAD v4 |
17 | g.63488685A>G | CA501186835 | ACE | c.2343A>G (p.Glu781=) c.621A>G (p.Glu207=) c.*413A>G (n.*413A>G) c.602A>G (n.602A>G) c.*72A>G (n.*72A>G) c.*263A>G (n.*263A>G) c.111A>G (p.Glu37=) n.289A>G c.1794A>G (p.Glu598=) c.681A>G (p.Glu227=) c.1776A>G (p.Glu592=) c.1491A>G (p.Glu497=) c.273A>G (p.Glu91=) n.721A>G | |
17 | g.63488685A>T | CA400557863 | ACE | c.2343A>T (p.Glu781Asp) c.621A>T (p.Glu207Asp) c.*413A>T (n.*413A>T) c.602A>T (n.602A>T) c.*72A>T (n.*72A>T) c.*263A>T (n.*263A>T) c.111A>T (p.Glu37Asp) n.289A>T c.1794A>T (p.Glu598Asp) c.681A>T (p.Glu227Asp) c.1776A>T (p.Glu592Asp) c.1491A>T (p.Glu497Asp) c.273A>T (p.Glu91Asp) n.721A>T | |
17 | g.63488686G>A | CA400557866 | ACE | c.2344G>A (p.Asp782Asn) c.622G>A (p.Asp208Asn) c.*414G>A (n.*414G>A) c.603G>A (n.603G>A) c.*73G>A (n.*73G>A) c.*264G>A (n.*264G>A) c.112G>A (p.Asp38Asn) n.290G>A c.1795G>A (p.Asp599Asn) c.682G>A (p.Asp228Asn) c.1777G>A (p.Asp593Asn) c.1492G>A (p.Asp498Asn) c.274G>A (p.Asp92Asn) n.722G>A | |
17 | g.63488686G>C | CA400557865 | ACE | c.2344G>C (p.Asp782His) c.622G>C (p.Asp208His) c.*414G>C (n.*414G>C) c.603G>C (n.603G>C) c.*73G>C (n.*73G>C) c.*264G>C (n.*264G>C) c.112G>C (p.Asp38His) n.290G>C c.1795G>C (p.Asp599His) c.682G>C (p.Asp228His) c.1777G>C (p.Asp593His) c.1492G>C (p.Asp498His) c.274G>C (p.Asp92His) n.722G>C | gnomAD v4 |
17 | g.63488686G>T | CA400557864 | ACE | c.2344G>T (p.Asp782Tyr) c.622G>T (p.Asp208Tyr) c.*414G>T (n.*414G>T) c.603G>T (n.603G>T) c.*73G>T (n.*73G>T) c.*264G>T (n.*264G>T) c.112G>T (p.Asp38Tyr) n.290G>T c.1795G>T (p.Asp599Tyr) c.682G>T (p.Asp228Tyr) c.1777G>T (p.Asp593Tyr) c.1492G>T (p.Asp498Tyr) c.274G>T (p.Asp92Tyr) n.722G>T | |
17 | g.63488687A>C | CA400557867 | ACE | c.2345A>C (p.Asp782Ala) c.623A>C (p.Asp208Ala) c.*415A>C (n.*415A>C) c.604A>C (n.604A>C) c.*74A>C (n.*74A>C) c.*265A>C (n.*265A>C) c.113A>C (p.Asp38Ala) n.291A>C c.1796A>C (p.Asp599Ala) c.683A>C (p.Asp228Ala) c.1778A>C (p.Asp593Ala) c.1493A>C (p.Asp498Ala) c.275A>C (p.Asp92Ala) n.723A>C | |
17 | g.63488687A>G | CA400557868 | ACE | c.2345A>G (p.Asp782Gly) c.623A>G (p.Asp208Gly) c.*415A>G (n.*415A>G) c.604A>G (n.604A>G) c.*74A>G (n.*74A>G) c.*265A>G (n.*265A>G) c.113A>G (p.Asp38Gly) n.291A>G c.1796A>G (p.Asp599Gly) c.683A>G (p.Asp228Gly) c.1778A>G (p.Asp593Gly) c.1493A>G (p.Asp498Gly) c.275A>G (p.Asp92Gly) n.723A>G | |
17 | g.63488687A>T | CA400557869 | ACE | c.2345A>T (p.Asp782Val) c.623A>T (p.Asp208Val) c.*415A>T (n.*415A>T) c.604A>T (n.604A>T) c.*74A>T (n.*74A>T) c.*265A>T (n.*265A>T) c.113A>T (p.Asp38Val) n.291A>T c.1796A>T (p.Asp599Val) c.683A>T (p.Asp228Val) c.1778A>T (p.Asp593Val) c.1493A>T (p.Asp498Val) c.275A>T (p.Asp92Val) n.723A>T | |
17 | g.63488688C>A | CA8700067 | ACE | c.2346C>A (p.Asp782Glu) c.624C>A (p.Asp208Glu) c.*416C>A (n.*416C>A) c.605C>A (n.605C>A) c.*75C>A (n.*75C>A) c.*266C>A (n.*266C>A) c.114C>A (p.Asp38Glu) n.292C>A c.1797C>A (p.Asp599Glu) c.684C>A (p.Asp228Glu) c.1779C>A (p.Asp593Glu) c.1494C>A (p.Asp498Glu) c.276C>A (p.Asp92Glu) n.724C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488688C= | CA2269945944 | ACE | c.2346C= (p.Asp782=) c.624C= (p.Asp208=) c.*416C= (n.*416C=) c.605C= (n.605C=) c.*75C= (n.*75C=) c.*266C= (n.*266C=) c.114C= (p.Asp38=) n.292C= c.1797C= (p.Asp599=) c.684C= (p.Asp228=) c.1779C= (p.Asp593=) c.1494C= (p.Asp498=) c.276C= (p.Asp92=) n.724C= | |
17 | g.63488688C>G | CA400557870 | ACE | c.2346C>G (p.Asp782Glu) c.624C>G (p.Asp208Glu) c.*416C>G (n.*416C>G) c.605C>G (n.605C>G) c.*75C>G (n.*75C>G) c.*266C>G (n.*266C>G) c.114C>G (p.Asp38Glu) n.292C>G c.1797C>G (p.Asp599Glu) c.684C>G (p.Asp228Glu) c.1779C>G (p.Asp593Glu) c.1494C>G (p.Asp498Glu) c.276C>G (p.Asp92Glu) n.724C>G | |
17 | g.63488688C>T | CA501186847 | ACE | c.2346C>T (p.Asp782=) c.624C>T (p.Asp208=) c.*416C>T (n.*416C>T) c.605C>T (n.605C>T) c.*75C>T (n.*75C>T) c.*266C>T (n.*266C>T) c.114C>T (p.Asp38=) n.292C>T c.1797C>T (p.Asp599=) c.684C>T (p.Asp228=) c.1779C>T (p.Asp593=) c.1494C>T (p.Asp498=) c.276C>T (p.Asp92=) n.724C>T | |
17 | g.63488689C>A | CA400557871 | ACE | c.2347C>A (p.Leu783Met) c.625C>A (p.Leu209Met) c.*417C>A (n.*417C>A) c.606C>A (n.606C>A) c.*76C>A (n.*76C>A) c.*267C>A (n.*267C>A) c.115C>A (p.Leu39Met) n.293C>A c.1798C>A (p.Leu600Met) c.685C>A (p.Leu229Met) c.1780C>A (p.Leu594Met) c.1495C>A (p.Leu499Met) c.277C>A (p.Leu93Met) n.725C>A | |
17 | g.63488689C= | CA2269945945 | ACE | c.2347C= (p.Leu783=) c.625C= (p.Leu209=) c.*417C= (n.*417C=) c.606C= (n.606C=) c.*76C= (n.*76C=) c.*267C= (n.*267C=) c.115C= (p.Leu39=) n.293C= c.1798C= (p.Leu600=) c.685C= (p.Leu229=) c.1780C= (p.Leu594=) c.1495C= (p.Leu499=) c.277C= (p.Leu93=) n.725C= | |
17 | g.63488689C>G | CA400557872 | ACE | c.2347C>G (p.Leu783Val) c.625C>G (p.Leu209Val) c.*417C>G (n.*417C>G) c.606C>G (n.606C>G) c.*76C>G (n.*76C>G) c.*267C>G (n.*267C>G) c.115C>G (p.Leu39Val) n.293C>G c.1798C>G (p.Leu600Val) c.685C>G (p.Leu229Val) c.1780C>G (p.Leu594Val) c.1495C>G (p.Leu499Val) c.277C>G (p.Leu93Val) n.725C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488689C>T | CA501186853 | ACE | c.2347C>T (p.Leu783=) c.625C>T (p.Leu209=) c.*417C>T (n.*417C>T) c.606C>T (n.606C>T) c.*76C>T (n.*76C>T) c.*267C>T (n.*267C>T) c.115C>T (p.Leu39=) n.293C>T c.1798C>T (p.Leu600=) c.685C>T (p.Leu229=) c.1780C>T (p.Leu594=) c.1495C>T (p.Leu499=) c.277C>T (p.Leu93=) n.725C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488689_63488690insA | CA2269945946 | ACE | c.2347_2348insA (p.Leu783HisfsTer?) c.625_626insA (p.Leu209HisfsTer?) c.*417_*418insA (n.*417_*418insA) c.606_607insA (n.606_607insA) c.*76_*77insA (n.*76_*77insA) c.*267_*268insA (n.*267_*268insA) c.115_116insA (p.Leu39HisfsTer?) n.293_294insA c.1798_1799insA (p.Leu600HisfsTer?) c.685_686insA (p.Leu229HisfsTer?) c.1780_1781insA (p.Leu594HisfsTer?) c.1495_1496insA (p.Leu499HisfsTer?) c.277_278insA (p.Leu93HisfsTer?) n.725_726insA | dbSNP gnomAD v4 |
17 | g.63488690T>A | CA400557873 | ACE | c.2348T>A (p.Leu783Gln) c.626T>A (p.Leu209Gln) c.*418T>A (n.*418T>A) c.607T>A (n.607T>A) c.*77T>A (n.*77T>A) c.*268T>A (n.*268T>A) c.116T>A (p.Leu39Gln) n.294T>A c.1799T>A (p.Leu600Gln) c.686T>A (p.Leu229Gln) c.1781T>A (p.Leu594Gln) c.1496T>A (p.Leu499Gln) c.278T>A (p.Leu93Gln) n.726T>A | |
17 | g.63488690T>C | CA400557874 | ACE | c.2348T>C (p.Leu783Pro) c.626T>C (p.Leu209Pro) c.*418T>C (n.*418T>C) c.607T>C (n.607T>C) c.*77T>C (n.*77T>C) c.*268T>C (n.*268T>C) c.116T>C (p.Leu39Pro) n.294T>C c.1799T>C (p.Leu600Pro) c.686T>C (p.Leu229Pro) c.1781T>C (p.Leu594Pro) c.1496T>C (p.Leu499Pro) c.278T>C (p.Leu93Pro) n.726T>C | gnomAD v4 |
17 | g.63488690T>G | CA400557875 | ACE | c.2348T>G (p.Leu783Arg) c.626T>G (p.Leu209Arg) c.*418T>G (n.*418T>G) c.607T>G (n.607T>G) c.*77T>G (n.*77T>G) c.*268T>G (n.*268T>G) c.116T>G (p.Leu39Arg) n.294T>G c.1799T>G (p.Leu600Arg) c.686T>G (p.Leu229Arg) c.1781T>G (p.Leu594Arg) c.1496T>G (p.Leu499Arg) c.278T>G (p.Leu93Arg) n.726T>G | |
17 | g.63488691del | CA2639263698 | ACE | c.2349del (p.Leu784TyrfsTer?) c.627del (p.Leu210TyrfsTer?) c.*419del (n.*419del) c.608del (n.608del) c.*78del (n.*78del) c.*269del (n.*269del) c.117del (p.Leu40TyrfsTer?) n.295del c.1800del (p.Leu601TyrfsTer?) c.687del (p.Leu230TyrfsTer?) c.1782del (p.Leu595TyrfsTer?) c.1497del (p.Leu500TyrfsTer?) c.279del (p.Leu94TyrfsTer?) n.727del | gnomAD v4 |
17 | g.63488691G>A | CA501186860 | ACE | c.2349G>A (p.Leu783=) c.627G>A (p.Leu209=) c.*419G>A (n.*419G>A) c.608G>A (n.608G>A) c.*78G>A (n.*78G>A) c.*269G>A (n.*269G>A) c.117G>A (p.Leu39=) n.295G>A c.1800G>A (p.Leu600=) c.687G>A (p.Leu229=) c.1782G>A (p.Leu594=) c.1497G>A (p.Leu499=) c.279G>A (p.Leu93=) n.727G>A | gnomAD v4 |
17 | g.63488691G>C | CA501186862 | ACE | c.2349G>C (p.Leu783=) c.627G>C (p.Leu209=) c.*419G>C (n.*419G>C) c.608G>C (n.608G>C) c.*78G>C (n.*78G>C) c.*269G>C (n.*269G>C) c.117G>C (p.Leu39=) n.295G>C c.1800G>C (p.Leu600=) c.687G>C (p.Leu229=) c.1782G>C (p.Leu594=) c.1497G>C (p.Leu499=) c.279G>C (p.Leu93=) n.727G>C | |
17 | g.63488691G>T | CA501186864 | ACE | c.2349G>T (p.Leu783=) c.627G>T (p.Leu209=) c.*419G>T (n.*419G>T) c.608G>T (n.608G>T) c.*78G>T (n.*78G>T) c.*269G>T (n.*269G>T) c.117G>T (p.Leu39=) n.295G>T c.1800G>T (p.Leu600=) c.687G>T (p.Leu229=) c.1782G>T (p.Leu594=) c.1497G>T (p.Leu499=) c.279G>T (p.Leu93=) n.727G>T | |
17 | g.63488691_63488692delinsGT | CA2269945947 | ACE | c.2349_2350delinsGT (p.Leu783=) c.627_628delinsGT (p.Leu209=) c.*419_*420delinsGT (n.*419_*420delinsGT) c.608_609delinsGT (n.608_609delinsGT) c.*78_*79delinsGT (n.*78_*79delinsGT) c.*269_*270delinsGT (n.*269_*270delinsGT) c.117_118delinsGT (p.Leu39=) n.295_296delinsGT c.1800_1801delinsGT (p.Leu600=) c.687_688delinsGT (p.Leu229=) c.1782_1783delinsGT (p.Leu594=) c.1497_1498delinsGT (p.Leu499=) c.279_280delinsGT (p.Leu93=) n.727_728delinsGT | |
17 | g.63488692_63488703del | CA985411686 | ACE | c.2350_2361del (p.Leu784_Trp787del) c.628_639del (p.Leu210_Trp213del) c.*420_*431del (n.*420_*431del) c.609_620del (n.609_620del) c.*79_*90del (n.*79_*90del) c.*270_*281del (n.*270_*281del) c.118_129del (p.Leu40_Trp43del) n.296_307del c.1801_1812del (p.Leu601_Trp604del) c.688_699del (p.Leu230_Trp233del) c.1783_1794del (p.Leu595_Trp598del) c.1498_1509del (p.Leu500_Trp503del) c.280_291del (p.Leu94_Trp97del) n.728_739del | gnomAD v3 gnomAD v4 |
17 | g.63488692T>A | CA400557876 | ACE | c.2350T>A (p.Leu784Ile) c.628T>A (p.Leu210Ile) c.*420T>A (n.*420T>A) c.609T>A (n.609T>A) c.*79T>A (n.*79T>A) c.*270T>A (n.*270T>A) c.118T>A (p.Leu40Ile) n.296T>A c.1801T>A (p.Leu601Ile) c.688T>A (p.Leu230Ile) c.1783T>A (p.Leu595Ile) c.1498T>A (p.Leu500Ile) c.280T>A (p.Leu94Ile) n.728T>A | |
17 | g.63488692T>C | CA501186868 | ACE | c.2350T>C (p.Leu784=) c.628T>C (p.Leu210=) c.*420T>C (n.*420T>C) c.609T>C (n.609T>C) c.*79T>C (n.*79T>C) c.*270T>C (n.*270T>C) c.118T>C (p.Leu40=) n.296T>C c.1801T>C (p.Leu601=) c.688T>C (p.Leu230=) c.1783T>C (p.Leu595=) c.1498T>C (p.Leu500=) c.280T>C (p.Leu94=) n.728T>C | |
17 | g.63488692T>G | CA400557877 | ACE | c.2350T>G (p.Leu784Val) c.628T>G (p.Leu210Val) c.*420T>G (n.*420T>G) c.609T>G (n.609T>G) c.*79T>G (n.*79T>G) c.*270T>G (n.*270T>G) c.118T>G (p.Leu40Val) n.296T>G c.1801T>G (p.Leu601Val) c.688T>G (p.Leu230Val) c.1783T>G (p.Leu595Val) c.1498T>G (p.Leu500Val) c.280T>G (p.Leu94Val) n.728T>G | |
17 | g.63488693del | CA627148294 | ACE | c.2351del (p.Leu784TyrfsTer?) c.629del (p.Leu210TyrfsTer?) c.*421del (n.*421del) c.610del (n.610del) c.*80del (n.*80del) c.*271del (n.*271del) c.119del (p.Leu40TyrfsTer?) n.297del c.1802del (p.Leu601TyrfsTer?) c.689del (p.Leu230TyrfsTer?) c.1784del (p.Leu595TyrfsTer?) c.1499del (p.Leu500TyrfsTer?) c.281del (p.Leu94TyrfsTer?) n.729del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488693T>A | CA400557880 | ACE | c.2351T>A (p.Leu784Ter) c.629T>A (p.Leu210Ter) c.*421T>A (n.*421T>A) c.610T>A (n.610T>A) c.*80T>A (n.*80T>A) c.*271T>A (n.*271T>A) c.119T>A (p.Leu40Ter) n.297T>A c.1802T>A (p.Leu601Ter) c.689T>A (p.Leu230Ter) c.1784T>A (p.Leu595Ter) c.1499T>A (p.Leu500Ter) c.281T>A (p.Leu94Ter) n.729T>A | |
17 | g.63488693T>C | CA400557879 | ACE | c.2351T>C (p.Leu784Ser) c.629T>C (p.Leu210Ser) c.*421T>C (n.*421T>C) c.610T>C (n.610T>C) c.*80T>C (n.*80T>C) c.*271T>C (n.*271T>C) c.119T>C (p.Leu40Ser) n.297T>C c.1802T>C (p.Leu601Ser) c.689T>C (p.Leu230Ser) c.1784T>C (p.Leu595Ser) c.1499T>C (p.Leu500Ser) c.281T>C (p.Leu94Ser) n.729T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488693T>G | CA400557878 | ACE | c.2351T>G (p.Leu784Ter) c.629T>G (p.Leu210Ter) c.*421T>G (n.*421T>G) c.610T>G (n.610T>G) c.*80T>G (n.*80T>G) c.*271T>G (n.*271T>G) c.119T>G (p.Leu40Ter) n.297T>G c.1802T>G (p.Leu601Ter) c.689T>G (p.Leu230Ter) c.1784T>G (p.Leu595Ter) c.1499T>G (p.Leu500Ter) c.281T>G (p.Leu94Ter) n.729T>G | |
17 | g.63488693T= | CA2269945948 | ACE | c.2351T= (p.Leu784=) c.629T= (p.Leu210=) c.*421T= (n.*421T=) c.610T= (n.610T=) c.*80T= (n.*80T=) c.*271T= (n.*271T=) c.119T= (p.Leu40=) n.297T= c.1802T= (p.Leu601=) c.689T= (p.Leu230=) c.1784T= (p.Leu595=) c.1499T= (p.Leu500=) c.281T= (p.Leu94=) n.729T= | |
17 | g.63488694A>C | CA400557881 | ACE | c.2352A>C (p.Leu784Phe) c.630A>C (p.Leu210Phe) c.*422A>C (n.*422A>C) c.611A>C (n.611A>C) c.*81A>C (n.*81A>C) c.*272A>C (n.*272A>C) c.120A>C (p.Leu40Phe) n.298A>C c.1803A>C (p.Leu601Phe) c.690A>C (p.Leu230Phe) c.1785A>C (p.Leu595Phe) c.1500A>C (p.Leu500Phe) c.282A>C (p.Leu94Phe) n.730A>C | |
17 | g.63488694A>G | CA501186876 | ACE | c.2352A>G (p.Leu784=) c.630A>G (p.Leu210=) c.*422A>G (n.*422A>G) c.611A>G (n.611A>G) c.*81A>G (n.*81A>G) c.*272A>G (n.*272A>G) c.120A>G (p.Leu40=) n.298A>G c.1803A>G (p.Leu601=) c.690A>G (p.Leu230=) c.1785A>G (p.Leu595=) c.1500A>G (p.Leu500=) c.282A>G (p.Leu94=) n.730A>G | |
17 | g.63488694A>T | CA400557882 | ACE | c.2352A>T (p.Leu784Phe) c.630A>T (p.Leu210Phe) c.*422A>T (n.*422A>T) c.611A>T (n.611A>T) c.*81A>T (n.*81A>T) c.*272A>T (n.*272A>T) c.120A>T (p.Leu40Phe) n.298A>T c.1803A>T (p.Leu601Phe) c.690A>T (p.Leu230Phe) c.1785A>T (p.Leu595Phe) c.1500A>T (p.Leu500Phe) c.282A>T (p.Leu94Phe) n.730A>T | |
17 | g.63488695T>A | CA400557883 | ACE | c.2353T>A (p.Trp785Arg) c.631T>A (p.Trp211Arg) c.*423T>A (n.*423T>A) c.612T>A (n.612T>A) c.*82T>A (n.*82T>A) c.*273T>A (n.*273T>A) c.121T>A (p.Trp41Arg) n.299T>A c.1804T>A (p.Trp602Arg) c.691T>A (p.Trp231Arg) c.1786T>A (p.Trp596Arg) c.1501T>A (p.Trp501Arg) c.283T>A (p.Trp95Arg) n.731T>A | gnomAD v4 |
17 | g.63488695T>C | CA400557884 | ACE | c.2353T>C (p.Trp785Arg) c.631T>C (p.Trp211Arg) c.*423T>C (n.*423T>C) c.612T>C (n.612T>C) c.*82T>C (n.*82T>C) c.*273T>C (n.*273T>C) c.121T>C (p.Trp41Arg) n.299T>C c.1804T>C (p.Trp602Arg) c.691T>C (p.Trp231Arg) c.1786T>C (p.Trp596Arg) c.1501T>C (p.Trp501Arg) c.283T>C (p.Trp95Arg) n.731T>C | |
17 | g.63488695T>G | CA8700068 | ACE | c.2353T>G (p.Trp785Gly) c.631T>G (p.Trp211Gly) c.*423T>G (n.*423T>G) c.612T>G (n.612T>G) c.*82T>G (n.*82T>G) c.*273T>G (n.*273T>G) c.121T>G (p.Trp41Gly) n.299T>G c.1804T>G (p.Trp602Gly) c.691T>G (p.Trp231Gly) c.1786T>G (p.Trp596Gly) c.1501T>G (p.Trp501Gly) c.283T>G (p.Trp95Gly) n.731T>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63488695T= | CA2269945949 | ACE | c.2353T= (p.Trp785=) c.631T= (p.Trp211=) c.*423T= (n.*423T=) c.612T= (n.612T=) c.*82T= (n.*82T=) c.*273T= (n.*273T=) c.121T= (p.Trp41=) n.299T= c.1804T= (p.Trp602=) c.691T= (p.Trp231=) c.1786T= (p.Trp596=) c.1501T= (p.Trp501=) c.283T= (p.Trp95=) n.731T= | |
17 | g.63488696G>A | CA400557885 | ACE | c.2354G>A (p.Trp785Ter) c.632G>A (p.Trp211Ter) c.*424G>A (n.*424G>A) c.613G>A (n.613G>A) c.*83G>A (n.*83G>A) c.*274G>A (n.*274G>A) c.122G>A (p.Trp41Ter) n.300G>A c.1805G>A (p.Trp602Ter) c.692G>A (p.Trp231Ter) c.1787G>A (p.Trp596Ter) c.1502G>A (p.Trp501Ter) c.284G>A (p.Trp95Ter) n.732G>A | |
17 | g.63488696G>C | CA400557886 | ACE | c.2354G>C (p.Trp785Ser) c.632G>C (p.Trp211Ser) c.*424G>C (n.*424G>C) c.613G>C (n.613G>C) c.*83G>C (n.*83G>C) c.*274G>C (n.*274G>C) c.122G>C (p.Trp41Ser) n.300G>C c.1805G>C (p.Trp602Ser) c.692G>C (p.Trp231Ser) c.1787G>C (p.Trp596Ser) c.1502G>C (p.Trp501Ser) c.284G>C (p.Trp95Ser) n.732G>C | |
17 | g.63488696G>T | CA400557887 | ACE | c.2354G>T (p.Trp785Leu) c.632G>T (p.Trp211Leu) c.*424G>T (n.*424G>T) c.613G>T (n.613G>T) c.*83G>T (n.*83G>T) c.*274G>T (n.*274G>T) c.122G>T (p.Trp41Leu) n.300G>T c.1805G>T (p.Trp602Leu) c.692G>T (p.Trp231Leu) c.1787G>T (p.Trp596Leu) c.1502G>T (p.Trp501Leu) c.284G>T (p.Trp95Leu) n.732G>T | |
17 | g.63488697G>A | CA400557888 | ACE | c.2355G>A (p.Trp785Ter) c.633G>A (p.Trp211Ter) c.*425G>A (n.*425G>A) c.614G>A (n.614G>A) c.*84G>A (n.*84G>A) c.*275G>A (n.*275G>A) c.123G>A (p.Trp41Ter) n.301G>A c.1806G>A (p.Trp602Ter) c.693G>A (p.Trp231Ter) c.1788G>A (p.Trp596Ter) c.1503G>A (p.Trp501Ter) c.285G>A (p.Trp95Ter) n.733G>A | |
17 | g.63488697G>C | CA400557889 | ACE | c.2355G>C (p.Trp785Cys) c.633G>C (p.Trp211Cys) c.*425G>C (n.*425G>C) c.614G>C (n.614G>C) c.*84G>C (n.*84G>C) c.*275G>C (n.*275G>C) c.123G>C (p.Trp41Cys) n.301G>C c.1806G>C (p.Trp602Cys) c.693G>C (p.Trp231Cys) c.1788G>C (p.Trp596Cys) c.1503G>C (p.Trp501Cys) c.285G>C (p.Trp95Cys) n.733G>C | |
17 | g.63488697G>T | CA400557890 | ACE | c.2355G>T (p.Trp785Cys) c.633G>T (p.Trp211Cys) c.*425G>T (n.*425G>T) c.614G>T (n.614G>T) c.*84G>T (n.*84G>T) c.*275G>T (n.*275G>T) c.123G>T (p.Trp41Cys) n.301G>T c.1806G>T (p.Trp602Cys) c.693G>T (p.Trp231Cys) c.1788G>T (p.Trp596Cys) c.1503G>T (p.Trp501Cys) c.285G>T (p.Trp95Cys) n.733G>T | gnomAD v4 COSMIC |
17 | g.63488698G>A | CA400557891 | ACE | c.2356G>A (p.Ala786Thr) c.634G>A (p.Ala212Thr) c.*426G>A (n.*426G>A) c.615G>A (n.615G>A) c.*85G>A (n.*85G>A) c.*276G>A (n.*276G>A) c.124G>A (p.Ala42Thr) n.302G>A c.1807G>A (p.Ala603Thr) c.694G>A (p.Ala232Thr) c.1789G>A (p.Ala597Thr) c.1504G>A (p.Ala502Thr) c.286G>A (p.Ala96Thr) n.734G>A | COSMIC |
17 | g.63488698G>C | CA400557892 | ACE | c.2356G>C (p.Ala786Pro) c.634G>C (p.Ala212Pro) c.*426G>C (n.*426G>C) c.615G>C (n.615G>C) c.*85G>C (n.*85G>C) c.*276G>C (n.*276G>C) c.124G>C (p.Ala42Pro) n.302G>C c.1807G>C (p.Ala603Pro) c.694G>C (p.Ala232Pro) c.1789G>C (p.Ala597Pro) c.1504G>C (p.Ala502Pro) c.286G>C (p.Ala96Pro) n.734G>C | |
17 | g.63488698G>T | CA400557893 | ACE | c.2356G>T (p.Ala786Ser) c.634G>T (p.Ala212Ser) c.*426G>T (n.*426G>T) c.615G>T (n.615G>T) c.*85G>T (n.*85G>T) c.*276G>T (n.*276G>T) c.124G>T (p.Ala42Ser) n.302G>T c.1807G>T (p.Ala603Ser) c.694G>T (p.Ala232Ser) c.1789G>T (p.Ala597Ser) c.1504G>T (p.Ala502Ser) c.286G>T (p.Ala96Ser) n.734G>T | |
17 | g.63488699C>A | CA400557896 | ACE | c.2357C>A (p.Ala786Glu) c.635C>A (p.Ala212Glu) c.*427C>A (n.*427C>A) c.616C>A (n.616C>A) c.*86C>A (n.*86C>A) c.*277C>A (n.*277C>A) c.125C>A (p.Ala42Glu) n.303C>A c.1808C>A (p.Ala603Glu) c.695C>A (p.Ala232Glu) c.1790C>A (p.Ala597Glu) c.1505C>A (p.Ala502Glu) c.287C>A (p.Ala96Glu) n.735C>A | |
17 | g.63488699C= | CA2269945950 | ACE | c.2357C= (p.Ala786=) c.635C= (p.Ala212=) c.*427C= (n.*427C=) c.616C= (n.616C=) c.*86C= (n.*86C=) c.*277C= (n.*277C=) c.125C= (p.Ala42=) n.303C= c.1808C= (p.Ala603=) c.695C= (p.Ala232=) c.1790C= (p.Ala597=) c.1505C= (p.Ala502=) c.287C= (p.Ala96=) n.735C= | |
17 | g.63488699C>G | CA400557895 | ACE | c.2357C>G (p.Ala786Gly) c.635C>G (p.Ala212Gly) c.*427C>G (n.*427C>G) c.616C>G (n.616C>G) c.*86C>G (n.*86C>G) c.*277C>G (n.*277C>G) c.125C>G (p.Ala42Gly) n.303C>G c.1808C>G (p.Ala603Gly) c.695C>G (p.Ala232Gly) c.1790C>G (p.Ala597Gly) c.1505C>G (p.Ala502Gly) c.287C>G (p.Ala96Gly) n.735C>G | |
17 | g.63488699C>T | CA400557894 | ACE | c.2357C>T (p.Ala786Val) c.635C>T (p.Ala212Val) c.*427C>T (n.*427C>T) c.616C>T (n.616C>T) c.*86C>T (n.*86C>T) c.*277C>T (n.*277C>T) c.125C>T (p.Ala42Val) n.303C>T c.1808C>T (p.Ala603Val) c.695C>T (p.Ala232Val) c.1790C>T (p.Ala597Val) c.1505C>T (p.Ala502Val) c.287C>T (p.Ala96Val) n.735C>T | dbSNP gnomAD v4 |
17 | g.63488700A>C | CA501186901 | ACE | c.2358A>C (p.Ala786=) c.636A>C (p.Ala212=) c.*428A>C (n.*428A>C) c.617A>C (n.617A>C) c.*87A>C (n.*87A>C) c.*278A>C (n.*278A>C) c.126A>C (p.Ala42=) n.304A>C c.1809A>C (p.Ala603=) c.696A>C (p.Ala232=) c.1791A>C (p.Ala597=) c.1506A>C (p.Ala502=) c.288A>C (p.Ala96=) n.736A>C | |
17 | g.63488700A>G | CA501186905 | ACE | c.2358A>G (p.Ala786=) c.636A>G (p.Ala212=) c.*428A>G (n.*428A>G) c.617A>G (n.617A>G) c.*87A>G (n.*87A>G) c.*278A>G (n.*278A>G) c.126A>G (p.Ala42=) n.304A>G c.1809A>G (p.Ala603=) c.696A>G (p.Ala232=) c.1791A>G (p.Ala597=) c.1506A>G (p.Ala502=) c.288A>G (p.Ala96=) n.736A>G | |
17 | g.63488700A>T | CA501186903 | ACE | c.2358A>T (p.Ala786=) c.636A>T (p.Ala212=) c.*428A>T (n.*428A>T) c.617A>T (n.617A>T) c.*87A>T (n.*87A>T) c.*278A>T (n.*278A>T) c.126A>T (p.Ala42=) n.304A>T c.1809A>T (p.Ala603=) c.696A>T (p.Ala232=) c.1791A>T (p.Ala597=) c.1506A>T (p.Ala502=) c.288A>T (p.Ala96=) n.736A>T | |
17 | g.63488701T>A | CA400557897 | ACE | c.2359T>A (p.Trp787Arg) c.637T>A (p.Trp213Arg) c.*429T>A (n.*429T>A) c.618T>A (n.618T>A) c.*88T>A (n.*88T>A) c.*279T>A (n.*279T>A) c.127T>A (p.Trp43Arg) n.305T>A c.1810T>A (p.Trp604Arg) c.697T>A (p.Trp233Arg) c.1792T>A (p.Trp598Arg) c.1507T>A (p.Trp503Arg) c.289T>A (p.Trp97Arg) n.737T>A | |
17 | g.63488701T>C | CA400557898 | ACE | c.2359T>C (p.Trp787Arg) c.637T>C (p.Trp213Arg) c.*429T>C (n.*429T>C) c.618T>C (n.618T>C) c.*88T>C (n.*88T>C) c.*279T>C (n.*279T>C) c.127T>C (p.Trp43Arg) n.305T>C c.1810T>C (p.Trp604Arg) c.697T>C (p.Trp233Arg) c.1792T>C (p.Trp598Arg) c.1507T>C (p.Trp503Arg) c.289T>C (p.Trp97Arg) n.737T>C | gnomAD v4 |
17 | g.63488701T>G | CA400557899 | ACE | c.2359T>G (p.Trp787Gly) c.637T>G (p.Trp213Gly) c.*429T>G (n.*429T>G) c.618T>G (n.618T>G) c.*88T>G (n.*88T>G) c.*279T>G (n.*279T>G) c.127T>G (p.Trp43Gly) n.305T>G c.1810T>G (p.Trp604Gly) c.697T>G (p.Trp233Gly) c.1792T>G (p.Trp598Gly) c.1507T>G (p.Trp503Gly) c.289T>G (p.Trp97Gly) n.737T>G | |
17 | g.63488701_63488702delinsTG | CA2269945951 | ACE | c.2359_2360delinsTG (p.Trp787=) c.637_638delinsTG (p.Trp213=) c.*429_*430delinsTG (n.*429_*430delinsTG) c.618_619delinsTG (n.618_619delinsTG) c.*88_*89delinsTG (n.*88_*89delinsTG) c.*279_*280delinsTG (n.*279_*280delinsTG) c.127_128delinsTG (p.Trp43=) n.305_306delinsTG c.1810_1811delinsTG (p.Trp604=) c.697_698delinsTG (p.Trp233=) c.1792_1793delinsTG (p.Trp598=) c.1507_1508delinsTG (p.Trp503=) c.289_290delinsTG (p.Trp97=) n.737_738delinsTG | |
17 | g.63488702G>A | CA400557900 | ACE | c.2360G>A (p.Trp787Ter) c.638G>A (p.Trp213Ter) c.*430G>A (n.*430G>A) c.619G>A (n.619G>A) c.*89G>A (n.*89G>A) c.*280G>A (n.*280G>A) c.128G>A (p.Trp43Ter) n.306G>A c.1811G>A (p.Trp604Ter) c.698G>A (p.Trp233Ter) c.1793G>A (p.Trp598Ter) c.1508G>A (p.Trp503Ter) c.290G>A (p.Trp97Ter) n.738G>A | |
17 | g.63488702G>C | CA400557901 | ACE | c.2360G>C (p.Trp787Ser) c.638G>C (p.Trp213Ser) c.*430G>C (n.*430G>C) c.619G>C (n.619G>C) c.*89G>C (n.*89G>C) c.*280G>C (n.*280G>C) c.128G>C (p.Trp43Ser) n.306G>C c.1811G>C (p.Trp604Ser) c.698G>C (p.Trp233Ser) c.1793G>C (p.Trp598Ser) c.1508G>C (p.Trp503Ser) c.290G>C (p.Trp97Ser) n.738G>C | |
17 | g.63488702G>T | CA400557902 | ACE | c.2360G>T (p.Trp787Leu) c.638G>T (p.Trp213Leu) c.*430G>T (n.*430G>T) c.619G>T (n.619G>T) c.*89G>T (n.*89G>T) c.*280G>T (n.*280G>T) c.128G>T (p.Trp43Leu) n.306G>T c.1811G>T (p.Trp604Leu) c.698G>T (p.Trp233Leu) c.1793G>T (p.Trp598Leu) c.1508G>T (p.Trp503Leu) c.290G>T (p.Trp97Leu) n.738G>T | |
17 | g.63488704del | CA773967149 | ACE | c.2362del (p.Glu788ArgfsTer?) c.640del (p.Glu214ArgfsTer?) c.*432del (n.*432del) c.621del (n.621del) c.*91del (n.*91del) c.*282del (n.*282del) c.130del (p.Glu44ArgfsTer?) n.308del c.1813del (p.Glu605ArgfsTer?) c.700del (p.Glu234ArgfsTer?) c.1795del (p.Glu599ArgfsTer?) c.1510del (p.Glu504ArgfsTer?) c.292del (p.Glu98ArgfsTer?) n.740del | dbSNP |
17 | g.63488703G>A | CA8700069 | ACE | c.2361G>A (p.Trp787Ter) c.639G>A (p.Trp213Ter) c.*431G>A (n.*431G>A) c.620G>A (n.620G>A) c.*90G>A (n.*90G>A) c.*281G>A (n.*281G>A) c.129G>A (p.Trp43Ter) n.307G>A c.1812G>A (p.Trp604Ter) c.699G>A (p.Trp233Ter) c.1794G>A (p.Trp598Ter) c.1509G>A (p.Trp503Ter) c.291G>A (p.Trp97Ter) n.739G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488703G>C | CA400557903 | ACE | c.2361G>C (p.Trp787Cys) c.639G>C (p.Trp213Cys) c.*431G>C (n.*431G>C) c.620G>C (n.620G>C) c.*90G>C (n.*90G>C) c.*281G>C (n.*281G>C) c.129G>C (p.Trp43Cys) n.307G>C c.1812G>C (p.Trp604Cys) c.699G>C (p.Trp233Cys) c.1794G>C (p.Trp598Cys) c.1509G>C (p.Trp503Cys) c.291G>C (p.Trp97Cys) n.739G>C | |
17 | g.63488703G= | CA2269945952 | ACE | c.2361G= (p.Trp787=) c.639G= (p.Trp213=) c.*431G= (n.*431G=) c.620G= (n.620G=) c.*90G= (n.*90G=) c.*281G= (n.*281G=) c.129G= (p.Trp43=) n.307G= c.1812G= (p.Trp604=) c.699G= (p.Trp233=) c.1794G= (p.Trp598=) c.1509G= (p.Trp503=) c.291G= (p.Trp97=) n.739G= | |
17 | g.63488703G>T | CA400557904 | ACE | c.2361G>T (p.Trp787Cys) c.639G>T (p.Trp213Cys) c.*431G>T (n.*431G>T) c.620G>T (n.620G>T) c.*90G>T (n.*90G>T) c.*281G>T (n.*281G>T) c.129G>T (p.Trp43Cys) n.307G>T c.1812G>T (p.Trp604Cys) c.699G>T (p.Trp233Cys) c.1794G>T (p.Trp598Cys) c.1509G>T (p.Trp503Cys) c.291G>T (p.Trp97Cys) n.739G>T | |
17 | g.63488704G>A | CA8700070 | ACE | c.2362G>A (p.Glu788Lys) c.640G>A (p.Glu214Lys) c.*432G>A (n.*432G>A) c.621G>A (n.621G>A) c.*91G>A (n.*91G>A) c.*282G>A (n.*282G>A) c.130G>A (p.Glu44Lys) n.308G>A c.1813G>A (p.Glu605Lys) c.700G>A (p.Glu234Lys) c.1795G>A (p.Glu599Lys) c.1510G>A (p.Glu504Lys) c.292G>A (p.Glu98Lys) n.740G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63488704G>C | CA400557905 | ACE | c.2362G>C (p.Glu788Gln) c.640G>C (p.Glu214Gln) c.*432G>C (n.*432G>C) c.621G>C (n.621G>C) c.*91G>C (n.*91G>C) c.*282G>C (n.*282G>C) c.130G>C (p.Glu44Gln) n.308G>C c.1813G>C (p.Glu605Gln) c.700G>C (p.Glu234Gln) c.1795G>C (p.Glu599Gln) c.1510G>C (p.Glu504Gln) c.292G>C (p.Glu98Gln) n.740G>C | |
17 | g.63488704G= | CA2269945953 | ACE | c.2362G= (p.Glu788=) c.640G= (p.Glu214=) c.*432G= (n.*432G=) c.621G= (n.621G=) c.*91G= (n.*91G=) c.*282G= (n.*282G=) c.130G= (p.Glu44=) n.308G= c.1813G= (p.Glu605=) c.700G= (p.Glu234=) c.1795G= (p.Glu599=) c.1510G= (p.Glu504=) c.292G= (p.Glu98=) n.740G= | |
17 | g.63488704G>T | CA400557906 | ACE | c.2362G>T (p.Glu788Ter) c.640G>T (p.Glu214Ter) c.*432G>T (n.*432G>T) c.621G>T (n.621G>T) c.*91G>T (n.*91G>T) c.*282G>T (n.*282G>T) c.130G>T (p.Glu44Ter) n.308G>T c.1813G>T (p.Glu605Ter) c.700G>T (p.Glu234Ter) c.1795G>T (p.Glu599Ter) c.1510G>T (p.Glu504Ter) c.292G>T (p.Glu98Ter) n.740G>T | |
17 | g.63488705A>C | CA400557909 | ACE | c.2363A>C (p.Glu788Ala) c.641A>C (p.Glu214Ala) c.*433A>C (n.*433A>C) c.622A>C (n.622A>C) c.*92A>C (n.*92A>C) c.*283A>C (n.*283A>C) c.131A>C (p.Glu44Ala) n.309A>C c.1814A>C (p.Glu605Ala) c.701A>C (p.Glu234Ala) c.1796A>C (p.Glu599Ala) c.1511A>C (p.Glu504Ala) c.293A>C (p.Glu98Ala) n.741A>C | |
17 | g.63488705A>G | CA400557908 | ACE | c.2363A>G (p.Glu788Gly) c.641A>G (p.Glu214Gly) c.*433A>G (n.*433A>G) c.622A>G (n.622A>G) c.*92A>G (n.*92A>G) c.*283A>G (n.*283A>G) c.131A>G (p.Glu44Gly) n.309A>G c.1814A>G (p.Glu605Gly) c.701A>G (p.Glu234Gly) c.1796A>G (p.Glu599Gly) c.1511A>G (p.Glu504Gly) c.293A>G (p.Glu98Gly) n.741A>G | COSMIC COSMIC COSMIC |
17 | g.63488705A>T | CA400557907 | ACE | c.2363A>T (p.Glu788Val) c.641A>T (p.Glu214Val) c.*433A>T (n.*433A>T) c.622A>T (n.622A>T) c.*92A>T (n.*92A>T) c.*283A>T (n.*283A>T) c.131A>T (p.Glu44Val) n.309A>T c.1814A>T (p.Glu605Val) c.701A>T (p.Glu234Val) c.1796A>T (p.Glu599Val) c.1511A>T (p.Glu504Val) c.293A>T (p.Glu98Val) n.741A>T | |
17 | g.63488706G>A | CA8700072 | ACE | c.2364G>A (p.Glu788=) c.642G>A (p.Glu214=) c.*434G>A (n.*434G>A) c.623G>A (n.623G>A) c.*93G>A (n.*93G>A) c.*284G>A (n.*284G>A) c.132G>A (p.Glu44=) n.310G>A c.1815G>A (p.Glu605=) c.702G>A (p.Glu234=) c.1797G>A (p.Glu599=) c.1512G>A (p.Glu504=) c.294G>A (p.Glu98=) n.742G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
17 | g.63488706G>C | CA400557910 | ACE | c.2364G>C (p.Glu788Asp) c.642G>C (p.Glu214Asp) c.*434G>C (n.*434G>C) c.623G>C (n.623G>C) c.*93G>C (n.*93G>C) c.*284G>C (n.*284G>C) c.132G>C (p.Glu44Asp) n.310G>C c.1815G>C (p.Glu605Asp) c.702G>C (p.Glu234Asp) c.1797G>C (p.Glu599Asp) c.1512G>C (p.Glu504Asp) c.294G>C (p.Glu98Asp) n.742G>C | |
17 | g.63488706G= | CA2269945954 | ACE | c.2364G= (p.Glu788=) c.642G= (p.Glu214=) c.*434G= (n.*434G=) c.623G= (n.623G=) c.*93G= (n.*93G=) c.*284G= (n.*284G=) c.132G= (p.Glu44=) n.310G= c.1815G= (p.Glu605=) c.702G= (p.Glu234=) c.1797G= (p.Glu599=) c.1512G= (p.Glu504=) c.294G= (p.Glu98=) n.742G= | |
17 | g.63488706G>T | CA8700071 | ACE | c.2364G>T (p.Glu788Asp) c.642G>T (p.Glu214Asp) c.*434G>T (n.*434G>T) c.623G>T (n.623G>T) c.*93G>T (n.*93G>T) c.*284G>T (n.*284G>T) c.132G>T (p.Glu44Asp) n.310G>T c.1815G>T (p.Glu605Asp) c.702G>T (p.Glu234Asp) c.1797G>T (p.Glu599Asp) c.1512G>T (p.Glu504Asp) c.294G>T (p.Glu98Asp) n.742G>T | dbSNP ExAC gnomAD v3 gnomAD v4 |
17 | g.63488707G>A | CA400557911 | ACE | c.2365G>A (p.Gly789Ser) c.643G>A (p.Gly215Ser) c.*435G>A (n.*435G>A) c.624G>A (n.624G>A) c.*94G>A (n.*94G>A) c.*285G>A (n.*285G>A) c.133G>A (p.Gly45Ser) n.311G>A c.1816G>A (p.Gly606Ser) c.703G>A (p.Gly235Ser) c.1798G>A (p.Gly600Ser) c.1513G>A (p.Gly505Ser) c.295G>A (p.Gly99Ser) n.743G>A | |
17 | g.63488707G>C | CA400557912 | ACE | c.2365G>C (p.Gly789Arg) c.643G>C (p.Gly215Arg) c.*435G>C (n.*435G>C) c.624G>C (n.624G>C) c.*94G>C (n.*94G>C) c.*285G>C (n.*285G>C) c.133G>C (p.Gly45Arg) n.311G>C c.1816G>C (p.Gly606Arg) c.703G>C (p.Gly235Arg) c.1798G>C (p.Gly600Arg) c.1513G>C (p.Gly505Arg) c.295G>C (p.Gly99Arg) n.743G>C | |
17 | g.63488707G>T | CA400557913 | ACE | c.2365G>T (p.Gly789Cys) c.643G>T (p.Gly215Cys) c.*435G>T (n.*435G>T) c.624G>T (n.624G>T) c.*94G>T (n.*94G>T) c.*285G>T (n.*285G>T) c.133G>T (p.Gly45Cys) n.311G>T c.1816G>T (p.Gly606Cys) c.703G>T (p.Gly235Cys) c.1798G>T (p.Gly600Cys) c.1513G>T (p.Gly505Cys) c.295G>T (p.Gly99Cys) n.743G>T | gnomAD v3 gnomAD v4 |
17 | g.63488708G>A | CA292883424 | ACE | c.2366G>A (p.Gly789Asp) c.644G>A (p.Gly215Asp) c.*436G>A (n.*436G>A) c.625G>A (n.625G>A) c.*95G>A (n.*95G>A) c.*286G>A (n.*286G>A) c.134G>A (p.Gly45Asp) n.312G>A c.1817G>A (p.Gly606Asp) c.704G>A (p.Gly235Asp) c.1799G>A (p.Gly600Asp) c.1514G>A (p.Gly505Asp) c.296G>A (p.Gly99Asp) n.744G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488708G>C | CA400557914 | ACE | c.2366G>C (p.Gly789Ala) c.644G>C (p.Gly215Ala) c.*436G>C (n.*436G>C) c.625G>C (n.625G>C) c.*95G>C (n.*95G>C) c.*286G>C (n.*286G>C) c.134G>C (p.Gly45Ala) n.312G>C c.1817G>C (p.Gly606Ala) c.704G>C (p.Gly235Ala) c.1799G>C (p.Gly600Ala) c.1514G>C (p.Gly505Ala) c.296G>C (p.Gly99Ala) n.744G>C | gnomAD v4 |
17 | g.63488708G= | CA2269945955 | ACE | c.2366G= (p.Gly789=) c.644G= (p.Gly215=) c.*436G= (n.*436G=) c.625G= (n.625G=) c.*95G= (n.*95G=) c.*286G= (n.*286G=) c.134G= (p.Gly45=) n.312G= c.1817G= (p.Gly606=) c.704G= (p.Gly235=) c.1799G= (p.Gly600=) c.1514G= (p.Gly505=) c.296G= (p.Gly99=) n.744G= | |
17 | g.63488708G>T | CA400557915 | ACE | c.2366G>T (p.Gly789Val) c.644G>T (p.Gly215Val) c.*436G>T (n.*436G>T) c.625G>T (n.625G>T) c.*95G>T (n.*95G>T) c.*286G>T (n.*286G>T) c.134G>T (p.Gly45Val) n.312G>T c.1817G>T (p.Gly606Val) c.704G>T (p.Gly235Val) c.1799G>T (p.Gly600Val) c.1514G>T (p.Gly505Val) c.296G>T (p.Gly99Val) n.744G>T | gnomAD v4 |
17 | g.63488709C>A | CA8700073 | ACE | c.2367C>A (p.Gly789=) c.645C>A (p.Gly215=) c.*437C>A (n.*437C>A) c.626C>A (n.626C>A) c.*96C>A (n.*96C>A) c.*287C>A (n.*287C>A) c.135C>A (p.Gly45=) n.313C>A c.1818C>A (p.Gly606=) c.705C>A (p.Gly235=) c.1800C>A (p.Gly600=) c.1515C>A (p.Gly505=) c.297C>A (p.Gly99=) n.745C>A | dbSNP ExAC gnomAD v2 |
17 | g.63488709C= | CA2269945956 | ACE | c.2367C= (p.Gly789=) c.645C= (p.Gly215=) c.*437C= (n.*437C=) c.626C= (n.626C=) c.*96C= (n.*96C=) c.*287C= (n.*287C=) c.135C= (p.Gly45=) n.313C= c.1818C= (p.Gly606=) c.705C= (p.Gly235=) c.1800C= (p.Gly600=) c.1515C= (p.Gly505=) c.297C= (p.Gly99=) n.745C= | |
17 | g.63488709C>G | CA8700074 | ACE | c.2367C>G (p.Gly789=) c.645C>G (p.Gly215=) c.*437C>G (n.*437C>G) c.626C>G (n.626C>G) c.*96C>G (n.*96C>G) c.*287C>G (n.*287C>G) c.135C>G (p.Gly45=) n.313C>G c.1818C>G (p.Gly606=) c.705C>G (p.Gly235=) c.1800C>G (p.Gly600=) c.1515C>G (p.Gly505=) c.297C>G (p.Gly99=) n.745C>G | dbSNP ExAC gnomAD v4 |
17 | g.63488709C>T | CA501186949 | ACE | c.2367C>T (p.Gly789=) c.645C>T (p.Gly215=) c.*437C>T (n.*437C>T) c.626C>T (n.626C>T) c.*96C>T (n.*96C>T) c.*287C>T (n.*287C>T) c.135C>T (p.Gly45=) n.313C>T c.1818C>T (p.Gly606=) c.705C>T (p.Gly235=) c.1800C>T (p.Gly600=) c.1515C>T (p.Gly505=) c.297C>T (p.Gly99=) n.745C>T | gnomAD v4 |
17 | g.63488710T>A | CA400557916 | ACE | c.2368T>A (p.Trp790Arg) c.646T>A (p.Trp216Arg) c.*438T>A (n.*438T>A) c.627T>A (n.627T>A) c.*97T>A (n.*97T>A) c.*288T>A (n.*288T>A) c.136T>A (p.Trp46Arg) n.314T>A c.1819T>A (p.Trp607Arg) c.706T>A (p.Trp236Arg) c.1801T>A (p.Trp601Arg) c.1516T>A (p.Trp506Arg) c.298T>A (p.Trp100Arg) n.746T>A | |
17 | g.63488710T>C | CA400557917 | ACE | c.2368T>C (p.Trp790Arg) c.646T>C (p.Trp216Arg) c.*438T>C (n.*438T>C) c.627T>C (n.627T>C) c.*97T>C (n.*97T>C) c.*288T>C (n.*288T>C) c.136T>C (p.Trp46Arg) n.314T>C c.1819T>C (p.Trp607Arg) c.706T>C (p.Trp236Arg) c.1801T>C (p.Trp601Arg) c.1516T>C (p.Trp506Arg) c.298T>C (p.Trp100Arg) n.746T>C | |
17 | g.63488710T>G | CA400557918 | ACE | c.2368T>G (p.Trp790Gly) c.646T>G (p.Trp216Gly) c.*438T>G (n.*438T>G) c.627T>G (n.627T>G) c.*97T>G (n.*97T>G) c.*288T>G (n.*288T>G) c.136T>G (p.Trp46Gly) n.314T>G c.1819T>G (p.Trp607Gly) c.706T>G (p.Trp236Gly) c.1801T>G (p.Trp601Gly) c.1516T>G (p.Trp506Gly) c.298T>G (p.Trp100Gly) n.746T>G | |
17 | g.63488711G>A | CA400557919 | ACE | c.2369G>A (p.Trp790Ter) c.647G>A (p.Trp216Ter) c.*439G>A (n.*439G>A) c.628G>A (n.628G>A) c.*98G>A (n.*98G>A) c.*289G>A (n.*289G>A) c.137G>A (p.Trp46Ter) n.315G>A c.1820G>A (p.Trp607Ter) c.707G>A (p.Trp236Ter) c.1802G>A (p.Trp601Ter) c.1517G>A (p.Trp506Ter) c.299G>A (p.Trp100Ter) n.747G>A | |
17 | g.63488711G>C | CA400557921 | ACE | c.2369G>C (p.Trp790Ser) c.647G>C (p.Trp216Ser) c.*439G>C (n.*439G>C) c.628G>C (n.628G>C) c.*98G>C (n.*98G>C) c.*289G>C (n.*289G>C) c.137G>C (p.Trp46Ser) n.315G>C c.1820G>C (p.Trp607Ser) c.707G>C (p.Trp236Ser) c.1802G>C (p.Trp601Ser) c.1517G>C (p.Trp506Ser) c.299G>C (p.Trp100Ser) n.747G>C | |
17 | g.63488711G>T | CA400557920 | ACE | c.2369G>T (p.Trp790Leu) c.647G>T (p.Trp216Leu) c.*439G>T (n.*439G>T) c.628G>T (n.628G>T) c.*98G>T (n.*98G>T) c.*289G>T (n.*289G>T) c.137G>T (p.Trp46Leu) n.315G>T c.1820G>T (p.Trp607Leu) c.707G>T (p.Trp236Leu) c.1802G>T (p.Trp601Leu) c.1517G>T (p.Trp506Leu) c.299G>T (p.Trp100Leu) n.747G>T | |
17 | g.63488712G>A | CA400557922 | ACE | c.2370G>A (p.Trp790Ter) c.648G>A (p.Trp216Ter) c.*440G>A (n.*440G>A) c.629G>A (n.629G>A) c.*99G>A (n.*99G>A) c.*290G>A (n.*290G>A) c.138G>A (p.Trp46Ter) n.316G>A c.1821G>A (p.Trp607Ter) c.708G>A (p.Trp236Ter) c.1803G>A (p.Trp601Ter) c.1518G>A (p.Trp506Ter) c.300G>A (p.Trp100Ter) n.748G>A | |
17 | g.63488712G>C | CA400557923 | ACE | c.2370G>C (p.Trp790Cys) c.648G>C (p.Trp216Cys) c.*440G>C (n.*440G>C) c.629G>C (n.629G>C) c.*99G>C (n.*99G>C) c.*290G>C (n.*290G>C) c.138G>C (p.Trp46Cys) n.316G>C c.1821G>C (p.Trp607Cys) c.708G>C (p.Trp236Cys) c.1803G>C (p.Trp601Cys) c.1518G>C (p.Trp506Cys) c.300G>C (p.Trp100Cys) n.748G>C | |
17 | g.63488712G>T | CA400557924 | ACE | c.2370G>T (p.Trp790Cys) c.648G>T (p.Trp216Cys) c.*440G>T (n.*440G>T) c.629G>T (n.629G>T) c.*99G>T (n.*99G>T) c.*290G>T (n.*290G>T) c.138G>T (p.Trp46Cys) n.316G>T c.1821G>T (p.Trp607Cys) c.708G>T (p.Trp236Cys) c.1803G>T (p.Trp601Cys) c.1518G>T (p.Trp506Cys) c.300G>T (p.Trp100Cys) n.748G>T | |
17 | g.63488713C>A | CA501186969 | ACE | c.2371C>A (p.Arg791=) c.649C>A (p.Arg217=) c.*441C>A (n.*441C>A) c.630C>A (n.630C>A) c.*100C>A (n.*100C>A) c.*291C>A (n.*291C>A) c.139C>A (p.Arg47=) n.317C>A c.1822C>A (p.Arg608=) c.709C>A (p.Arg237=) c.1804C>A (p.Arg602=) c.1519C>A (p.Arg507=) c.301C>A (p.Arg101=) n.749C>A | |
17 | g.63488713C= | CA2269945957 | ACE | c.2371C= (p.Arg791=) c.649C= (p.Arg217=) c.*441C= (n.*441C=) c.630C= (n.630C=) c.*100C= (n.*100C=) c.*291C= (n.*291C=) c.139C= (p.Arg47=) n.317C= c.1822C= (p.Arg608=) c.709C= (p.Arg237=) c.1804C= (p.Arg602=) c.1519C= (p.Arg507=) c.301C= (p.Arg101=) n.749C= | |
17 | g.63488713C>G | CA400557925 | ACE | c.2371C>G (p.Arg791Gly) c.649C>G (p.Arg217Gly) c.*441C>G (n.*441C>G) c.630C>G (n.630C>G) c.*100C>G (n.*100C>G) c.*291C>G (n.*291C>G) c.139C>G (p.Arg47Gly) n.317C>G c.1822C>G (p.Arg608Gly) c.709C>G (p.Arg237Gly) c.1804C>G (p.Arg602Gly) c.1519C>G (p.Arg507Gly) c.301C>G (p.Arg101Gly) n.749C>G | |
17 | g.63488713C>T | CA143701 | ACE | c.2371C>T (p.Arg791Ter) c.649C>T (p.Arg217Ter) c.*441C>T (n.*441C>T) c.630C>T (n.630C>T) c.*100C>T (n.*100C>T) c.*291C>T (n.*291C>T) c.139C>T (p.Arg47Ter) n.317C>T c.1822C>T (p.Arg608Ter) c.709C>T (p.Arg237Ter) c.1804C>T (p.Arg602Ter) c.1519C>T (p.Arg507Ter) c.301C>T (p.Arg101Ter) n.749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63488714G>A | CA8700075 | ACE | c.2372G>A (p.Arg791Gln) c.650G>A (p.Arg217Gln) c.*442G>A (n.*442G>A) c.631G>A (n.631G>A) c.*101G>A (n.*101G>A) c.*292G>A (n.*292G>A) c.140G>A (p.Arg47Gln) n.318G>A c.1823G>A (p.Arg608Gln) c.710G>A (p.Arg237Gln) c.1805G>A (p.Arg602Gln) c.1520G>A (p.Arg507Gln) c.302G>A (p.Arg101Gln) n.750G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63488714G>C | CA400557926 | ACE | c.2372G>C (p.Arg791Pro) c.650G>C (p.Arg217Pro) c.*442G>C (n.*442G>C) c.631G>C (n.631G>C) c.*101G>C (n.*101G>C) c.*292G>C (n.*292G>C) c.140G>C (p.Arg47Pro) n.318G>C c.1823G>C (p.Arg608Pro) c.710G>C (p.Arg237Pro) c.1805G>C (p.Arg602Pro) c.1520G>C (p.Arg507Pro) c.302G>C (p.Arg101Pro) n.750G>C | |
17 | g.63488714G= | CA2269945958 | ACE | c.2372G= (p.Arg791=) c.650G= (p.Arg217=) c.*442G= (n.*442G=) c.631G= (n.631G=) c.*101G= (n.*101G=) c.*292G= (n.*292G=) c.140G= (p.Arg47=) n.318G= c.1823G= (p.Arg608=) c.710G= (p.Arg237=) c.1805G= (p.Arg602=) c.1520G= (p.Arg507=) c.302G= (p.Arg101=) n.750G= | |
17 | g.63488714G>T | CA400557927 | ACE | c.2372G>T (p.Arg791Leu) c.650G>T (p.Arg217Leu) c.*442G>T (n.*442G>T) c.631G>T (n.631G>T) c.*101G>T (n.*101G>T) c.*292G>T (n.*292G>T) c.140G>T (p.Arg47Leu) n.318G>T c.1823G>T (p.Arg608Leu) c.710G>T (p.Arg237Leu) c.1805G>T (p.Arg602Leu) c.1520G>T (p.Arg507Leu) c.302G>T (p.Arg101Leu) n.750G>T | |
17 | g.63488715A>C | CA501186980 | ACE | c.2373A>C (p.Arg791=) c.651A>C (p.Arg217=) c.*443A>C (n.*443A>C) c.632A>C (n.632A>C) c.*102A>C (n.*102A>C) c.*293A>C (n.*293A>C) c.141A>C (p.Arg47=) n.319A>C c.1824A>C (p.Arg608=) c.711A>C (p.Arg237=) c.1806A>C (p.Arg602=) c.1521A>C (p.Arg507=) c.303A>C (p.Arg101=) n.751A>C | |
17 | g.63488715A>G | CA501186984 | ACE | c.2373A>G (p.Arg791=) c.651A>G (p.Arg217=) c.*443A>G (n.*443A>G) c.632A>G (n.632A>G) c.*102A>G (n.*102A>G) c.*293A>G (n.*293A>G) c.141A>G (p.Arg47=) n.319A>G c.1824A>G (p.Arg608=) c.711A>G (p.Arg237=) c.1806A>G (p.Arg602=) c.1521A>G (p.Arg507=) c.303A>G (p.Arg101=) n.751A>G | |
17 | g.63488715A>T | CA501186987 | ACE | c.2373A>T (p.Arg791=) c.651A>T (p.Arg217=) c.*443A>T (n.*443A>T) c.632A>T (n.632A>T) c.*102A>T (n.*102A>T) c.*293A>T (n.*293A>T) c.141A>T (p.Arg47=) n.319A>T c.1824A>T (p.Arg608=) c.711A>T (p.Arg237=) c.1806A>T (p.Arg602=) c.1521A>T (p.Arg507=) c.303A>T (p.Arg101=) n.751A>T | |
17 | g.63488716G>A | CA400557928 | ACE | c.2374G>A (p.Asp792Asn) c.652G>A (p.Asp218Asn) c.*444G>A (n.*444G>A) c.633G>A (n.633G>A) c.*103G>A (n.*103G>A) c.*294G>A (n.*294G>A) c.142G>A (p.Asp48Asn) n.320G>A c.1825G>A (p.Asp609Asn) c.712G>A (p.Asp238Asn) c.1807G>A (p.Asp603Asn) c.1522G>A (p.Asp508Asn) c.304G>A (p.Asp102Asn) n.752G>A | gnomAD v4 |
17 | g.63488716G>C | CA400557929 | ACE | c.2374G>C (p.Asp792His) c.652G>C (p.Asp218His) c.*444G>C (n.*444G>C) c.633G>C (n.633G>C) c.*103G>C (n.*103G>C) c.*294G>C (n.*294G>C) c.142G>C (p.Asp48His) n.320G>C c.1825G>C (p.Asp609His) c.712G>C (p.Asp238His) c.1807G>C (p.Asp603His) c.1522G>C (p.Asp508His) c.304G>C (p.Asp102His) n.752G>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488716G= | CA2269945959 | ACE | c.2374G= (p.Asp792=) c.652G= (p.Asp218=) c.*444G= (n.*444G=) c.633G= (n.633G=) c.*103G= (n.*103G=) c.*294G= (n.*294G=) c.142G= (p.Asp48=) n.320G= c.1825G= (p.Asp609=) c.712G= (p.Asp238=) c.1807G= (p.Asp603=) c.1522G= (p.Asp508=) c.304G= (p.Asp102=) n.752G= | |
17 | g.63488716G>T | CA400557930 | ACE | c.2374G>T (p.Asp792Tyr) c.652G>T (p.Asp218Tyr) c.*444G>T (n.*444G>T) c.633G>T (n.633G>T) c.*103G>T (n.*103G>T) c.*294G>T (n.*294G>T) c.142G>T (p.Asp48Tyr) n.320G>T c.1825G>T (p.Asp609Tyr) c.712G>T (p.Asp238Tyr) c.1807G>T (p.Asp603Tyr) c.1522G>T (p.Asp508Tyr) c.304G>T (p.Asp102Tyr) n.752G>T | |
17 | g.63488717A>C | CA400557932 | ACE | c.2375A>C (p.Asp792Ala) c.653A>C (p.Asp218Ala) c.*445A>C (n.*445A>C) c.634A>C (n.634A>C) c.*104A>C (n.*104A>C) c.*295A>C (n.*295A>C) c.143A>C (p.Asp48Ala) n.321A>C c.1826A>C (p.Asp609Ala) c.713A>C (p.Asp238Ala) c.1808A>C (p.Asp603Ala) c.1523A>C (p.Asp508Ala) c.305A>C (p.Asp102Ala) n.753A>C | |
17 | g.63488717A>G | CA400557933 | ACE | c.2375A>G (p.Asp792Gly) c.653A>G (p.Asp218Gly) c.*445A>G (n.*445A>G) c.634A>G (n.634A>G) c.*104A>G (n.*104A>G) c.*295A>G (n.*295A>G) c.143A>G (p.Asp48Gly) n.321A>G c.1826A>G (p.Asp609Gly) c.713A>G (p.Asp238Gly) c.1808A>G (p.Asp603Gly) c.1523A>G (p.Asp508Gly) c.305A>G (p.Asp102Gly) n.753A>G | |
17 | g.63488717A>T | CA400557931 | ACE | c.2375A>T (p.Asp792Val) c.653A>T (p.Asp218Val) c.*445A>T (n.*445A>T) c.634A>T (n.634A>T) c.*104A>T (n.*104A>T) c.*295A>T (n.*295A>T) c.143A>T (p.Asp48Val) n.321A>T c.1826A>T (p.Asp609Val) c.713A>T (p.Asp238Val) c.1808A>T (p.Asp603Val) c.1523A>T (p.Asp508Val) c.305A>T (p.Asp102Val) n.753A>T | |
17 | g.63488718C>A | CA400557935 | ACE | c.2376C>A (p.Asp792Glu) c.654C>A (p.Asp218Glu) c.*446C>A (n.*446C>A) c.635C>A (n.635C>A) c.*105C>A (n.*105C>A) c.*296C>A (n.*296C>A) c.144C>A (p.Asp48Glu) n.322C>A c.1827C>A (p.Asp609Glu) c.714C>A (p.Asp238Glu) c.1809C>A (p.Asp603Glu) c.1524C>A (p.Asp508Glu) c.306C>A (p.Asp102Glu) n.754C>A | |
17 | g.63488718C= | CA2269945960 | ACE | c.2376C= (p.Asp792=) c.654C= (p.Asp218=) c.*446C= (n.*446C=) c.635C= (n.635C=) c.*105C= (n.*105C=) c.*296C= (n.*296C=) c.144C= (p.Asp48=) n.322C= c.1827C= (p.Asp609=) c.714C= (p.Asp238=) c.1809C= (p.Asp603=) c.1524C= (p.Asp508=) c.306C= (p.Asp102=) n.754C= | |
17 | g.63488718C>G | CA400557934 | ACE | c.2376C>G (p.Asp792Glu) c.654C>G (p.Asp218Glu) c.*446C>G (n.*446C>G) c.635C>G (n.635C>G) c.*105C>G (n.*105C>G) c.*296C>G (n.*296C>G) c.144C>G (p.Asp48Glu) n.322C>G c.1827C>G (p.Asp609Glu) c.714C>G (p.Asp238Glu) c.1809C>G (p.Asp603Glu) c.1524C>G (p.Asp508Glu) c.306C>G (p.Asp102Glu) n.754C>G | gnomAD v4 |
17 | g.63488718C>T | CA8700076 | ACE | c.2376C>T (p.Asp792=) c.654C>T (p.Asp218=) c.*446C>T (n.*446C>T) c.635C>T (n.635C>T) c.*105C>T (n.*105C>T) c.*296C>T (n.*296C>T) c.144C>T (p.Asp48=) n.322C>T c.1827C>T (p.Asp609=) c.714C>T (p.Asp238=) c.1809C>T (p.Asp603=) c.1524C>T (p.Asp508=) c.306C>T (p.Asp102=) n.754C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488719A>C | CA400557936 | ACE | c.2377A>C (p.Lys793Gln) c.655A>C (p.Lys219Gln) c.*447A>C (n.*447A>C) c.636A>C (n.636A>C) c.*106A>C (n.*106A>C) c.*297A>C (n.*297A>C) c.145A>C (p.Lys49Gln) n.323A>C c.1828A>C (p.Lys610Gln) c.715A>C (p.Lys239Gln) c.1810A>C (p.Lys604Gln) c.1525A>C (p.Lys509Gln) c.307A>C (p.Lys103Gln) n.755A>C | |
17 | g.63488719A>G | CA400557938 | ACE | c.2377A>G (p.Lys793Glu) c.655A>G (p.Lys219Glu) c.*447A>G (n.*447A>G) c.636A>G (n.636A>G) c.*106A>G (n.*106A>G) c.*297A>G (n.*297A>G) c.145A>G (p.Lys49Glu) n.323A>G c.1828A>G (p.Lys610Glu) c.715A>G (p.Lys239Glu) c.1810A>G (p.Lys604Glu) c.1525A>G (p.Lys509Glu) c.307A>G (p.Lys103Glu) n.755A>G | |
17 | g.63488719A>T | CA400557937 | ACE | c.2377A>T (p.Lys793Ter) c.655A>T (p.Lys219Ter) c.*447A>T (n.*447A>T) c.636A>T (n.636A>T) c.*106A>T (n.*106A>T) c.*297A>T (n.*297A>T) c.145A>T (p.Lys49Ter) n.323A>T c.1828A>T (p.Lys610Ter) c.715A>T (p.Lys239Ter) c.1810A>T (p.Lys604Ter) c.1525A>T (p.Lys509Ter) c.307A>T (p.Lys103Ter) n.755A>T | |
17 | g.63488720A= | CA2269945961 | ACE | c.2378A= (p.Lys793=) c.656A= (p.Lys219=) c.*448A= (n.*448A=) c.637A= (n.637A=) c.*107A= (n.*107A=) c.*298A= (n.*298A=) c.146A= (p.Lys49=) n.324A= c.1829A= (p.Lys610=) c.716A= (p.Lys239=) c.1811A= (p.Lys604=) c.1526A= (p.Lys509=) c.308A= (p.Lys103=) n.756A= | |
17 | g.63488720A>C | CA8700077 | ACE | c.2378A>C (p.Lys793Thr) c.656A>C (p.Lys219Thr) c.*448A>C (n.*448A>C) c.637A>C (n.637A>C) c.*107A>C (n.*107A>C) c.*298A>C (n.*298A>C) c.146A>C (p.Lys49Thr) n.324A>C c.1829A>C (p.Lys610Thr) c.716A>C (p.Lys239Thr) c.1811A>C (p.Lys604Thr) c.1526A>C (p.Lys509Thr) c.308A>C (p.Lys103Thr) n.756A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488720A>G | CA400557939 | ACE | c.2378A>G (p.Lys793Arg) c.656A>G (p.Lys219Arg) c.*448A>G (n.*448A>G) c.637A>G (n.637A>G) c.*107A>G (n.*107A>G) c.*298A>G (n.*298A>G) c.146A>G (p.Lys49Arg) n.324A>G c.1829A>G (p.Lys610Arg) c.716A>G (p.Lys239Arg) c.1811A>G (p.Lys604Arg) c.1526A>G (p.Lys509Arg) c.308A>G (p.Lys103Arg) n.756A>G | |
17 | g.63488720A>T | CA400557940 | ACE | c.2378A>T (p.Lys793Met) c.656A>T (p.Lys219Met) c.*448A>T (n.*448A>T) c.637A>T (n.637A>T) c.*107A>T (n.*107A>T) c.*298A>T (n.*298A>T) c.146A>T (p.Lys49Met) n.324A>T c.1829A>T (p.Lys610Met) c.716A>T (p.Lys239Met) c.1811A>T (p.Lys604Met) c.1526A>T (p.Lys509Met) c.308A>T (p.Lys103Met) n.756A>T | dbSNP |
17 | g.63488721G>A | CA501187043 | ACE | c.2379G>A (p.Lys793=) c.657G>A (p.Lys219=) c.*449G>A (n.*449G>A) c.638G>A (n.638G>A) c.*108G>A (n.*108G>A) c.*299G>A (n.*299G>A) c.147G>A (p.Lys49=) n.325G>A c.1830G>A (p.Lys610=) c.717G>A (p.Lys239=) c.1812G>A (p.Lys604=) c.1527G>A (p.Lys509=) c.309G>A (p.Lys103=) n.757G>A | |
17 | g.63488721G>C | CA400557941 | ACE | c.2379G>C (p.Lys793Asn) c.657G>C (p.Lys219Asn) c.*449G>C (n.*449G>C) c.638G>C (n.638G>C) c.*108G>C (n.*108G>C) c.*299G>C (n.*299G>C) c.147G>C (p.Lys49Asn) n.325G>C c.1830G>C (p.Lys610Asn) c.717G>C (p.Lys239Asn) c.1812G>C (p.Lys604Asn) c.1527G>C (p.Lys509Asn) c.309G>C (p.Lys103Asn) n.757G>C | |
17 | g.63488721G>T | CA400557942 | ACE | c.2379G>T (p.Lys793Asn) c.657G>T (p.Lys219Asn) c.*449G>T (n.*449G>T) c.638G>T (n.638G>T) c.*108G>T (n.*108G>T) c.*299G>T (n.*299G>T) c.147G>T (p.Lys49Asn) n.325G>T c.1830G>T (p.Lys610Asn) c.717G>T (p.Lys239Asn) c.1812G>T (p.Lys604Asn) c.1527G>T (p.Lys509Asn) c.309G>T (p.Lys103Asn) n.757G>T | |
17 | g.63488722G>A | CA8700078 | ACE | c.2380G>A (p.Ala794Thr) c.658G>A (p.Ala220Thr) c.*450G>A (n.*450G>A) c.639G>A (n.639G>A) c.*109G>A (n.*109G>A) c.*300G>A (n.*300G>A) c.148G>A (p.Ala50Thr) n.326G>A c.1831G>A (p.Ala611Thr) c.718G>A (p.Ala240Thr) c.1813G>A (p.Ala605Thr) c.1528G>A (p.Ala510Thr) c.310G>A (p.Ala104Thr) n.758G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488722G>C | CA400557943 | ACE | c.2380G>C (p.Ala794Pro) c.658G>C (p.Ala220Pro) c.*450G>C (n.*450G>C) c.639G>C (n.639G>C) c.*109G>C (n.*109G>C) c.*300G>C (n.*300G>C) c.148G>C (p.Ala50Pro) n.326G>C c.1831G>C (p.Ala611Pro) c.718G>C (p.Ala240Pro) c.1813G>C (p.Ala605Pro) c.1528G>C (p.Ala510Pro) c.310G>C (p.Ala104Pro) n.758G>C | |
17 | g.63488722G= | CA2269945962 | ACE | c.2380G= (p.Ala794=) c.658G= (p.Ala220=) c.*450G= (n.*450G=) c.639G= (n.639G=) c.*109G= (n.*109G=) c.*300G= (n.*300G=) c.148G= (p.Ala50=) n.326G= c.1831G= (p.Ala611=) c.718G= (p.Ala240=) c.1813G= (p.Ala605=) c.1528G= (p.Ala510=) c.310G= (p.Ala104=) n.758G= | |
17 | g.63488722G>T | CA400557944 | ACE | c.2380G>T (p.Ala794Ser) c.658G>T (p.Ala220Ser) c.*450G>T (n.*450G>T) c.639G>T (n.639G>T) c.*109G>T (n.*109G>T) c.*300G>T (n.*300G>T) c.148G>T (p.Ala50Ser) n.326G>T c.1831G>T (p.Ala611Ser) c.718G>T (p.Ala240Ser) c.1813G>T (p.Ala605Ser) c.1528G>T (p.Ala510Ser) c.310G>T (p.Ala104Ser) n.758G>T | |
17 | g.63488723C>A | CA400557945 | ACE | c.2381C>A (p.Ala794Glu) c.659C>A (p.Ala220Glu) c.*451C>A (n.*451C>A) c.640C>A (n.640C>A) c.*110C>A (n.*110C>A) c.*301C>A (n.*301C>A) c.149C>A (p.Ala50Glu) n.327C>A c.1832C>A (p.Ala611Glu) c.719C>A (p.Ala240Glu) c.1814C>A (p.Ala605Glu) c.1529C>A (p.Ala510Glu) c.311C>A (p.Ala104Glu) n.759C>A | |
17 | g.63488723C= | CA2269945963 | ACE | c.2381C= (p.Ala794=) c.659C= (p.Ala220=) c.*451C= (n.*451C=) c.640C= (n.640C=) c.*110C= (n.*110C=) c.*301C= (n.*301C=) c.149C= (p.Ala50=) n.327C= c.1832C= (p.Ala611=) c.719C= (p.Ala240=) c.1814C= (p.Ala605=) c.1529C= (p.Ala510=) c.311C= (p.Ala104=) n.759C= | |
17 | g.63488723C>G | CA400557946 | ACE | c.2381C>G (p.Ala794Gly) c.659C>G (p.Ala220Gly) c.*451C>G (n.*451C>G) c.640C>G (n.640C>G) c.*110C>G (n.*110C>G) c.*301C>G (n.*301C>G) c.149C>G (p.Ala50Gly) n.327C>G c.1832C>G (p.Ala611Gly) c.719C>G (p.Ala240Gly) c.1814C>G (p.Ala605Gly) c.1529C>G (p.Ala510Gly) c.311C>G (p.Ala104Gly) n.759C>G | |
17 | g.63488723C>T | CA8700079 | ACE | c.2381C>T (p.Ala794Val) c.659C>T (p.Ala220Val) c.*451C>T (n.*451C>T) c.640C>T (n.640C>T) c.*110C>T (n.*110C>T) c.*301C>T (n.*301C>T) c.149C>T (p.Ala50Val) n.327C>T c.1832C>T (p.Ala611Val) c.719C>T (p.Ala240Val) c.1814C>T (p.Ala605Val) c.1529C>T (p.Ala510Val) c.311C>T (p.Ala104Val) n.759C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
17 | g.63488724G>A | CA8700080 | ACE | c.2382G>A (p.Ala794=) c.660G>A (p.Ala220=) c.*452G>A (n.*452G>A) c.641G>A (n.641G>A) c.*111G>A (n.*111G>A) c.*302G>A (n.*302G>A) c.150G>A (p.Ala50=) n.328G>A c.1833G>A (p.Ala611=) c.720G>A (p.Ala240=) c.1815G>A (p.Ala605=) c.1530G>A (p.Ala510=) c.312G>A (p.Ala104=) n.760G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488724G>C | CA8700081 | ACE | c.2382G>C (p.Ala794=) c.660G>C (p.Ala220=) c.*452G>C (n.*452G>C) c.641G>C (n.641G>C) c.*111G>C (n.*111G>C) c.*302G>C (n.*302G>C) c.150G>C (p.Ala50=) n.328G>C c.1833G>C (p.Ala611=) c.720G>C (p.Ala240=) c.1815G>C (p.Ala605=) c.1530G>C (p.Ala510=) c.312G>C (p.Ala104=) n.760G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488724G= | CA2269945964 | ACE | c.2382G= (p.Ala794=) c.660G= (p.Ala220=) c.*452G= (n.*452G=) c.641G= (n.641G=) c.*111G= (n.*111G=) c.*302G= (n.*302G=) c.150G= (p.Ala50=) n.328G= c.1833G= (p.Ala611=) c.720G= (p.Ala240=) c.1815G= (p.Ala605=) c.1530G= (p.Ala510=) c.312G= (p.Ala104=) n.760G= | |
17 | g.63488724G>T | CA501187063 | ACE | c.2382G>T (p.Ala794=) c.660G>T (p.Ala220=) c.*452G>T (n.*452G>T) c.641G>T (n.641G>T) c.*111G>T (n.*111G>T) c.*302G>T (n.*302G>T) c.150G>T (p.Ala50=) n.328G>T c.1833G>T (p.Ala611=) c.720G>T (p.Ala240=) c.1815G>T (p.Ala605=) c.1530G>T (p.Ala510=) c.312G>T (p.Ala104=) n.760G>T | |
17 | g.63488725G>A | CA400557947 | ACE | c.2383G>A (p.Gly795Arg) c.661G>A (p.Gly221Arg) c.*453G>A (n.*453G>A) c.642G>A (n.642G>A) c.*112G>A (n.*112G>A) c.*303G>A (n.*303G>A) c.151G>A (p.Gly51Arg) n.329G>A c.1834G>A (p.Gly612Arg) c.721G>A (p.Gly241Arg) c.1816G>A (p.Gly606Arg) c.1531G>A (p.Gly511Arg) c.313G>A (p.Gly105Arg) n.761G>A | dbSNP gnomAD v4 |
17 | g.63488725G>C | CA400557948 | ACE | c.2383G>C (p.Gly795Arg) c.661G>C (p.Gly221Arg) c.*453G>C (n.*453G>C) c.642G>C (n.642G>C) c.*112G>C (n.*112G>C) c.*303G>C (n.*303G>C) c.151G>C (p.Gly51Arg) n.329G>C c.1834G>C (p.Gly612Arg) c.721G>C (p.Gly241Arg) c.1816G>C (p.Gly606Arg) c.1531G>C (p.Gly511Arg) c.313G>C (p.Gly105Arg) n.761G>C | |
17 | g.63488725G= | CA2269945965 | ACE | c.2383G= (p.Gly795=) c.661G= (p.Gly221=) c.*453G= (n.*453G=) c.642G= (n.642G=) c.*112G= (n.*112G=) c.*303G= (n.*303G=) c.151G= (p.Gly51=) n.329G= c.1834G= (p.Gly612=) c.721G= (p.Gly241=) c.1816G= (p.Gly606=) c.1531G= (p.Gly511=) c.313G= (p.Gly105=) n.761G= | |
17 | g.63488725G>T | CA400557949 | ACE | c.2383G>T (p.Gly795Trp) c.661G>T (p.Gly221Trp) c.*453G>T (n.*453G>T) c.642G>T (n.642G>T) c.*112G>T (n.*112G>T) c.*303G>T (n.*303G>T) c.151G>T (p.Gly51Trp) n.329G>T c.1834G>T (p.Gly612Trp) c.721G>T (p.Gly241Trp) c.1816G>T (p.Gly606Trp) c.1531G>T (p.Gly511Trp) c.313G>T (p.Gly105Trp) n.761G>T | |
17 | g.63488726G>A | CA400557950 | ACE | c.2384G>A (p.Gly795Glu) c.662G>A (p.Gly221Glu) c.*454G>A (n.*454G>A) c.643G>A (n.643G>A) c.*113G>A (n.*113G>A) c.*304G>A (n.*304G>A) c.152G>A (p.Gly51Glu) n.330G>A c.1835G>A (p.Gly612Glu) c.722G>A (p.Gly241Glu) c.1817G>A (p.Gly606Glu) c.1532G>A (p.Gly511Glu) c.314G>A (p.Gly105Glu) n.762G>A | COSMIC COSMIC COSMIC |
17 | g.63488726G>C | CA400557952 | ACE | c.2384G>C (p.Gly795Ala) c.662G>C (p.Gly221Ala) c.*454G>C (n.*454G>C) c.643G>C (n.643G>C) c.*113G>C (n.*113G>C) c.*304G>C (n.*304G>C) c.152G>C (p.Gly51Ala) n.330G>C c.1835G>C (p.Gly612Ala) c.722G>C (p.Gly241Ala) c.1817G>C (p.Gly606Ala) c.1532G>C (p.Gly511Ala) c.314G>C (p.Gly105Ala) n.762G>C | |
17 | g.63488726G>T | CA400557951 | ACE | c.2384G>T (p.Gly795Val) c.662G>T (p.Gly221Val) c.*454G>T (n.*454G>T) c.643G>T (n.643G>T) c.*113G>T (n.*113G>T) c.*304G>T (n.*304G>T) c.152G>T (p.Gly51Val) n.330G>T c.1835G>T (p.Gly612Val) c.722G>T (p.Gly241Val) c.1817G>T (p.Gly606Val) c.1532G>T (p.Gly511Val) c.314G>T (p.Gly105Val) n.762G>T | |
17 | g.63488727G>A | CA501187089 | ACE | c.2385G>A (p.Gly795=) c.663G>A (p.Gly221=) c.*455G>A (n.*455G>A) c.644G>A (n.644G>A) c.*114G>A (n.*114G>A) c.*305G>A (n.*305G>A) c.153G>A (p.Gly51=) n.331G>A c.1836G>A (p.Gly612=) c.723G>A (p.Gly241=) c.1818G>A (p.Gly606=) c.1533G>A (p.Gly511=) c.315G>A (p.Gly105=) n.763G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488727G>C | CA501187097 | ACE | c.2385G>C (p.Gly795=) c.663G>C (p.Gly221=) c.*455G>C (n.*455G>C) c.644G>C (n.644G>C) c.*114G>C (n.*114G>C) c.*305G>C (n.*305G>C) c.153G>C (p.Gly51=) n.331G>C c.1836G>C (p.Gly612=) c.723G>C (p.Gly241=) c.1818G>C (p.Gly606=) c.1533G>C (p.Gly511=) c.315G>C (p.Gly105=) n.763G>C | |
17 | g.63488727G= | CA2269945966 | ACE | c.2385G= (p.Gly795=) c.663G= (p.Gly221=) c.*455G= (n.*455G=) c.644G= (n.644G=) c.*114G= (n.*114G=) c.*305G= (n.*305G=) c.153G= (p.Gly51=) n.331G= c.1836G= (p.Gly612=) c.723G= (p.Gly241=) c.1818G= (p.Gly606=) c.1533G= (p.Gly511=) c.315G= (p.Gly105=) n.763G= | |
17 | g.63488727G>T | CA501187091 | ACE | c.2385G>T (p.Gly795=) c.663G>T (p.Gly221=) c.*455G>T (n.*455G>T) c.644G>T (n.644G>T) c.*114G>T (n.*114G>T) c.*305G>T (n.*305G>T) c.153G>T (p.Gly51=) n.331G>T c.1836G>T (p.Gly612=) c.723G>T (p.Gly241=) c.1818G>T (p.Gly606=) c.1533G>T (p.Gly511=) c.315G>T (p.Gly105=) n.763G>T | |
17 | g.63488728A>C | CA501187102 | ACE | c.2386A>C (p.Arg796=) c.664A>C (p.Arg222=) c.*456A>C (n.*456A>C) c.645A>C (n.645A>C) c.*115A>C (n.*115A>C) c.*306A>C (n.*306A>C) c.154A>C (p.Arg52=) n.332A>C c.1837A>C (p.Arg613=) c.724A>C (p.Arg242=) c.1819A>C (p.Arg607=) c.1534A>C (p.Arg512=) c.316A>C (p.Arg106=) n.764A>C | |
17 | g.63488728A>G | CA400557953 | ACE | c.2386A>G (p.Arg796Gly) c.664A>G (p.Arg222Gly) c.*456A>G (n.*456A>G) c.645A>G (n.645A>G) c.*115A>G (n.*115A>G) c.*306A>G (n.*306A>G) c.154A>G (p.Arg52Gly) n.332A>G c.1837A>G (p.Arg613Gly) c.724A>G (p.Arg242Gly) c.1819A>G (p.Arg607Gly) c.1534A>G (p.Arg512Gly) c.316A>G (p.Arg106Gly) n.764A>G | |
17 | g.63488728A>T | CA400557954 | ACE | c.2386A>T (p.Arg796Ter) c.664A>T (p.Arg222Ter) c.*456A>T (n.*456A>T) c.645A>T (n.645A>T) c.*115A>T (n.*115A>T) c.*306A>T (n.*306A>T) c.154A>T (p.Arg52Ter) n.332A>T c.1837A>T (p.Arg613Ter) c.724A>T (p.Arg242Ter) c.1819A>T (p.Arg607Ter) c.1534A>T (p.Arg512Ter) c.316A>T (p.Arg106Ter) n.764A>T | |
17 | g.63488729G>A | CA400557955 | ACE | c.2387G>A (p.Arg796Lys) c.665G>A (p.Arg222Lys) c.*457G>A (n.*457G>A) c.646G>A (n.646G>A) c.*116G>A (n.*116G>A) c.*307G>A (n.*307G>A) c.155G>A (p.Arg52Lys) n.333G>A c.1838G>A (p.Arg613Lys) c.725G>A (p.Arg242Lys) c.1820G>A (p.Arg607Lys) c.1535G>A (p.Arg512Lys) c.317G>A (p.Arg106Lys) n.765G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488729G>C | CA400557956 | ACE | c.2387G>C (p.Arg796Thr) c.665G>C (p.Arg222Thr) c.*457G>C (n.*457G>C) c.646G>C (n.646G>C) c.*116G>C (n.*116G>C) c.*307G>C (n.*307G>C) c.155G>C (p.Arg52Thr) n.333G>C c.1838G>C (p.Arg613Thr) c.725G>C (p.Arg242Thr) c.1820G>C (p.Arg607Thr) c.1535G>C (p.Arg512Thr) c.317G>C (p.Arg106Thr) n.765G>C | gnomAD v4 COSMIC COSMIC |
17 | g.63488729G= | CA2269945967 | ACE | c.2387G= (p.Arg796=) c.665G= (p.Arg222=) c.*457G= (n.*457G=) c.646G= (n.646G=) c.*116G= (n.*116G=) c.*307G= (n.*307G=) c.155G= (p.Arg52=) n.333G= c.1838G= (p.Arg613=) c.725G= (p.Arg242=) c.1820G= (p.Arg607=) c.1535G= (p.Arg512=) c.317G= (p.Arg106=) n.765G= | |
17 | g.63488729G>T | CA400557957 | ACE | c.2387G>T (p.Arg796Ile) c.665G>T (p.Arg222Ile) c.*457G>T (n.*457G>T) c.646G>T (n.646G>T) c.*116G>T (n.*116G>T) c.*307G>T (n.*307G>T) c.155G>T (p.Arg52Ile) n.333G>T c.1838G>T (p.Arg613Ile) c.725G>T (p.Arg242Ile) c.1820G>T (p.Arg607Ile) c.1535G>T (p.Arg512Ile) c.317G>T (p.Arg106Ile) n.765G>T | |
17 | g.63488730A>C | CA400557958 | ACE | c.2388A>C (p.Arg796Ser) c.666A>C (p.Arg222Ser) c.*458A>C (n.*458A>C) c.647A>C (n.647A>C) c.*117A>C (n.*117A>C) c.*308A>C (n.*308A>C) c.156A>C (p.Arg52Ser) n.334A>C c.1839A>C (p.Arg613Ser) c.726A>C (p.Arg242Ser) c.1821A>C (p.Arg607Ser) c.1536A>C (p.Arg512Ser) c.318A>C (p.Arg106Ser) n.766A>C | |
17 | g.63488730A>G | CA501187125 | ACE | c.2388A>G (p.Arg796=) c.666A>G (p.Arg222=) c.*458A>G (n.*458A>G) c.647A>G (n.647A>G) c.*117A>G (n.*117A>G) c.*308A>G (n.*308A>G) c.156A>G (p.Arg52=) n.334A>G c.1839A>G (p.Arg613=) c.726A>G (p.Arg242=) c.1821A>G (p.Arg607=) c.1536A>G (p.Arg512=) c.318A>G (p.Arg106=) n.766A>G | |
17 | g.63488730A>T | CA400557959 | ACE | c.2388A>T (p.Arg796Ser) c.666A>T (p.Arg222Ser) c.*458A>T (n.*458A>T) c.647A>T (n.647A>T) c.*117A>T (n.*117A>T) c.*308A>T (n.*308A>T) c.156A>T (p.Arg52Ser) n.334A>T c.1839A>T (p.Arg613Ser) c.726A>T (p.Arg242Ser) c.1821A>T (p.Arg607Ser) c.1536A>T (p.Arg512Ser) c.318A>T (p.Arg106Ser) n.766A>T | |
17 | g.63488731G>A | CA400557960 | ACE | c.2389G>A (p.Ala797Thr) c.667G>A (p.Ala223Thr) c.*459G>A (n.*459G>A) c.648G>A (n.648G>A) c.*118G>A (n.*118G>A) c.*309G>A (n.*309G>A) c.157G>A (p.Ala53Thr) n.335G>A c.1840G>A (p.Ala614Thr) c.727G>A (p.Ala243Thr) c.1822G>A (p.Ala608Thr) c.1537G>A (p.Ala513Thr) c.319G>A (p.Ala107Thr) n.767G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488731G>C | CA400557961 | ACE | c.2389G>C (p.Ala797Pro) c.667G>C (p.Ala223Pro) c.*459G>C (n.*459G>C) c.648G>C (n.648G>C) c.*118G>C (n.*118G>C) c.*309G>C (n.*309G>C) c.157G>C (p.Ala53Pro) n.335G>C c.1840G>C (p.Ala614Pro) c.727G>C (p.Ala243Pro) c.1822G>C (p.Ala608Pro) c.1537G>C (p.Ala513Pro) c.319G>C (p.Ala107Pro) n.767G>C | |
17 | g.63488731G= | CA2269945968 | ACE | c.2389G= (p.Ala797=) c.667G= (p.Ala223=) c.*459G= (n.*459G=) c.648G= (n.648G=) c.*118G= (n.*118G=) c.*309G= (n.*309G=) c.157G= (p.Ala53=) n.335G= c.1840G= (p.Ala614=) c.727G= (p.Ala243=) c.1822G= (p.Ala608=) c.1537G= (p.Ala513=) c.319G= (p.Ala107=) n.767G= | |
17 | g.63488731G>T | CA400557962 | ACE | c.2389G>T (p.Ala797Ser) c.667G>T (p.Ala223Ser) c.*459G>T (n.*459G>T) c.648G>T (n.648G>T) c.*118G>T (n.*118G>T) c.*309G>T (n.*309G>T) c.157G>T (p.Ala53Ser) n.335G>T c.1840G>T (p.Ala614Ser) c.727G>T (p.Ala243Ser) c.1822G>T (p.Ala608Ser) c.1537G>T (p.Ala513Ser) c.319G>T (p.Ala107Ser) n.767G>T | gnomAD v4 |
17 | g.63488732C>A | CA400557963 | ACE | c.2390C>A (p.Ala797Asp) c.668C>A (p.Ala223Asp) c.*460C>A (n.*460C>A) c.649C>A (n.649C>A) c.*119C>A (n.*119C>A) c.*310C>A (n.*310C>A) c.158C>A (p.Ala53Asp) n.336C>A c.1841C>A (p.Ala614Asp) c.728C>A (p.Ala243Asp) c.1823C>A (p.Ala608Asp) c.1538C>A (p.Ala513Asp) c.320C>A (p.Ala107Asp) n.768C>A | |
17 | g.63488732C= | CA2269945969 | ACE | c.2390C= (p.Ala797=) c.668C= (p.Ala223=) c.*460C= (n.*460C=) c.649C= (n.649C=) c.*119C= (n.*119C=) c.*310C= (n.*310C=) c.158C= (p.Ala53=) n.336C= c.1841C= (p.Ala614=) c.728C= (p.Ala243=) c.1823C= (p.Ala608=) c.1538C= (p.Ala513=) c.320C= (p.Ala107=) n.768C= | |
17 | g.63488732C>G | CA400557964 | ACE | c.2390C>G (p.Ala797Gly) c.668C>G (p.Ala223Gly) c.*460C>G (n.*460C>G) c.649C>G (n.649C>G) c.*119C>G (n.*119C>G) c.*310C>G (n.*310C>G) c.158C>G (p.Ala53Gly) n.336C>G c.1841C>G (p.Ala614Gly) c.728C>G (p.Ala243Gly) c.1823C>G (p.Ala608Gly) c.1538C>G (p.Ala513Gly) c.320C>G (p.Ala107Gly) n.768C>G | |
17 | g.63488732C>T | CA400557965 | ACE | c.2390C>T (p.Ala797Val) c.668C>T (p.Ala223Val) c.*460C>T (n.*460C>T) c.649C>T (n.649C>T) c.*119C>T (n.*119C>T) c.*310C>T (n.*310C>T) c.158C>T (p.Ala53Val) n.336C>T c.1841C>T (p.Ala614Val) c.728C>T (p.Ala243Val) c.1823C>T (p.Ala608Val) c.1538C>T (p.Ala513Val) c.320C>T (p.Ala107Val) n.768C>T | dbSNP gnomAD v4 |
17 | g.63488733C>A | CA501187148 | ACE | c.2391C>A (p.Ala797=) c.669C>A (p.Ala223=) c.*461C>A (n.*461C>A) c.650C>A (n.650C>A) c.*120C>A (n.*120C>A) c.*311C>A (n.*311C>A) c.159C>A (p.Ala53=) n.337C>A c.1842C>A (p.Ala614=) c.729C>A (p.Ala243=) c.1824C>A (p.Ala608=) c.1539C>A (p.Ala513=) c.321C>A (p.Ala107=) n.769C>A | |
17 | g.63488733C>G | CA501187149 | ACE | c.2391C>G (p.Ala797=) c.669C>G (p.Ala223=) c.*461C>G (n.*461C>G) c.650C>G (n.650C>G) c.*120C>G (n.*120C>G) c.*311C>G (n.*311C>G) c.159C>G (p.Ala53=) n.337C>G c.1842C>G (p.Ala614=) c.729C>G (p.Ala243=) c.1824C>G (p.Ala608=) c.1539C>G (p.Ala513=) c.321C>G (p.Ala107=) n.769C>G | |
17 | g.63488733C>T | CA501187151 | ACE | c.2391C>T (p.Ala797=) c.669C>T (p.Ala223=) c.*461C>T (n.*461C>T) c.650C>T (n.650C>T) c.*120C>T (n.*120C>T) c.*311C>T (n.*311C>T) c.159C>T (p.Ala53=) n.337C>T c.1842C>T (p.Ala614=) c.729C>T (p.Ala243=) c.1824C>T (p.Ala608=) c.1539C>T (p.Ala513=) c.321C>T (p.Ala107=) n.769C>T | |
17 | g.63488734A= | CA2269945970 | ACE | c.2392A= (p.Ile798=) c.670A= (p.Ile224=) c.*462A= (n.*462A=) c.651A= (n.651A=) c.*121A= (n.*121A=) c.*312A= (n.*312A=) c.160A= (p.Ile54=) n.338A= c.1843A= (p.Ile615=) c.730A= (p.Ile244=) c.1825A= (p.Ile609=) c.1540A= (p.Ile514=) c.322A= (p.Ile108=) n.770A= | |
17 | g.63488734A>C | CA400557966 | ACE | c.2392A>C (p.Ile798Leu) c.670A>C (p.Ile224Leu) c.*462A>C (n.*462A>C) c.651A>C (n.651A>C) c.*121A>C (n.*121A>C) c.*312A>C (n.*312A>C) c.160A>C (p.Ile54Leu) n.338A>C c.1843A>C (p.Ile615Leu) c.730A>C (p.Ile244Leu) c.1825A>C (p.Ile609Leu) c.1540A>C (p.Ile514Leu) c.322A>C (p.Ile108Leu) n.770A>C | dbSNP |
17 | g.63488734A>G | CA8700082 | ACE | c.2392A>G (p.Ile798Val) c.670A>G (p.Ile224Val) c.*462A>G (n.*462A>G) c.651A>G (n.651A>G) c.*121A>G (n.*121A>G) c.*312A>G (n.*312A>G) c.160A>G (p.Ile54Val) n.338A>G c.1843A>G (p.Ile615Val) c.730A>G (p.Ile244Val) c.1825A>G (p.Ile609Val) c.1540A>G (p.Ile514Val) c.322A>G (p.Ile108Val) n.770A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488734A>T | CA400557967 | ACE | c.2392A>T (p.Ile798Phe) c.670A>T (p.Ile224Phe) c.*462A>T (n.*462A>T) c.651A>T (n.651A>T) c.*121A>T (n.*121A>T) c.*312A>T (n.*312A>T) c.160A>T (p.Ile54Phe) n.338A>T c.1843A>T (p.Ile615Phe) c.730A>T (p.Ile244Phe) c.1825A>T (p.Ile609Phe) c.1540A>T (p.Ile514Phe) c.322A>T (p.Ile108Phe) n.770A>T | gnomAD v4 |
17 | g.63488734_63488737delinsATCC | CA2269945971 | ACE | c.2392_2395delinsATCC (p.Ile798=) c.670_673delinsATCC (p.Ile224=) c.*462_*465delinsATCC (n.*462_*465delinsATCC) c.651_654delinsATCC (n.651_654delinsATCC) c.*121_*124delinsATCC (n.*121_*124delinsATCC) c.*312_*315delinsATCC (n.*312_*315delinsATCC) c.160_163delinsATCC (p.Ile54=) n.338_341delinsATCC c.1843_1846delinsATCC (p.Ile615=) c.730_733delinsATCC (p.Ile244=) c.1825_1828delinsATCC (p.Ile609=) c.1540_1543delinsATCC (p.Ile514=) c.322_325delinsATCC (p.Ile108=) n.770_773delinsATCC | |
17 | g.63488735T>A | CA400557968 | ACE | c.2393T>A (p.Ile798Asn) c.671T>A (p.Ile224Asn) c.*463T>A (n.*463T>A) c.652T>A (n.652T>A) c.*122T>A (n.*122T>A) c.*313T>A (n.*313T>A) c.161T>A (p.Ile54Asn) n.339T>A c.1844T>A (p.Ile615Asn) c.731T>A (p.Ile244Asn) c.1826T>A (p.Ile609Asn) c.1541T>A (p.Ile514Asn) c.323T>A (p.Ile108Asn) n.771T>A | |
17 | g.63488735T>C | CA400557969 | ACE | c.2393T>C (p.Ile798Thr) c.671T>C (p.Ile224Thr) c.*463T>C (n.*463T>C) c.652T>C (n.652T>C) c.*122T>C (n.*122T>C) c.*313T>C (n.*313T>C) c.161T>C (p.Ile54Thr) n.339T>C c.1844T>C (p.Ile615Thr) c.731T>C (p.Ile244Thr) c.1826T>C (p.Ile609Thr) c.1541T>C (p.Ile514Thr) c.323T>C (p.Ile108Thr) n.771T>C | |
17 | g.63488735T>G | CA400557970 | ACE | c.2393T>G (p.Ile798Ser) c.671T>G (p.Ile224Ser) c.*463T>G (n.*463T>G) c.652T>G (n.652T>G) c.*122T>G (n.*122T>G) c.*313T>G (n.*313T>G) c.161T>G (p.Ile54Ser) n.339T>G c.1844T>G (p.Ile615Ser) c.731T>G (p.Ile244Ser) c.1826T>G (p.Ile609Ser) c.1541T>G (p.Ile514Ser) c.323T>G (p.Ile108Ser) n.771T>G | |
17 | g.63488738_63488740del | CA8700083 | ACE | c.2396_2398del (p.Leu799del) c.674_676del (p.Leu225del) c.*466_*468del (n.*466_*468del) c.655_657del (n.655_657del) c.*125_*127del (n.*125_*127del) c.*316_*318del (n.*316_*318del) c.164_166del (p.Leu55del) n.342_344del c.1847_1849del (p.Leu616del) c.734_736del (p.Leu245del) c.1829_1831del (p.Leu610del) c.1544_1546del (p.Leu515del) c.326_328del (p.Leu109del) n.774_776del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488736C>A | CA501187189 | ACE | c.2394C>A (p.Ile798=) c.672C>A (p.Ile224=) c.*464C>A (n.*464C>A) c.653C>A (n.653C>A) c.*123C>A (n.*123C>A) c.*314C>A (n.*314C>A) c.162C>A (p.Ile54=) n.340C>A c.1845C>A (p.Ile615=) c.732C>A (p.Ile244=) c.1827C>A (p.Ile609=) c.1542C>A (p.Ile514=) c.324C>A (p.Ile108=) n.772C>A | |
17 | g.63488736C= | CA2269945972 | ACE | c.2394C= (p.Ile798=) c.672C= (p.Ile224=) c.*464C= (n.*464C=) c.653C= (n.653C=) c.*123C= (n.*123C=) c.*314C= (n.*314C=) c.162C= (p.Ile54=) n.340C= c.1845C= (p.Ile615=) c.732C= (p.Ile244=) c.1827C= (p.Ile609=) c.1542C= (p.Ile514=) c.324C= (p.Ile108=) n.772C= | |
17 | g.63488736C>G | CA400557971 | ACE | c.2394C>G (p.Ile798Met) c.672C>G (p.Ile224Met) c.*464C>G (n.*464C>G) c.653C>G (n.653C>G) c.*123C>G (n.*123C>G) c.*314C>G (n.*314C>G) c.162C>G (p.Ile54Met) n.340C>G c.1845C>G (p.Ile615Met) c.732C>G (p.Ile244Met) c.1827C>G (p.Ile609Met) c.1542C>G (p.Ile514Met) c.324C>G (p.Ile108Met) n.772C>G | |
17 | g.63488736C>T | CA501187183 | ACE | c.2394C>T (p.Ile798=) c.672C>T (p.Ile224=) c.*464C>T (n.*464C>T) c.653C>T (n.653C>T) c.*123C>T (n.*123C>T) c.*314C>T (n.*314C>T) c.162C>T (p.Ile54=) n.340C>T c.1845C>T (p.Ile615=) c.732C>T (p.Ile244=) c.1827C>T (p.Ile609=) c.1542C>T (p.Ile514=) c.324C>T (p.Ile108=) n.772C>T | dbSNP |
17 | g.63488737C>A | CA400557974 | ACE | c.2395C>A (p.Leu799Ile) c.673C>A (p.Leu225Ile) c.*465C>A (n.*465C>A) c.654C>A (n.654C>A) c.*124C>A (n.*124C>A) c.*315C>A (n.*315C>A) c.163C>A (p.Leu55Ile) n.341C>A c.1846C>A (p.Leu616Ile) c.733C>A (p.Leu245Ile) c.1828C>A (p.Leu610Ile) c.1543C>A (p.Leu515Ile) c.325C>A (p.Leu109Ile) n.773C>A | |
17 | g.63488737C= | CA2269945973 | ACE | c.2395C= (p.Leu799=) c.673C= (p.Leu225=) c.*465C= (n.*465C=) c.654C= (n.654C=) c.*124C= (n.*124C=) c.*315C= (n.*315C=) c.163C= (p.Leu55=) n.341C= c.1846C= (p.Leu616=) c.733C= (p.Leu245=) c.1828C= (p.Leu610=) c.1543C= (p.Leu515=) c.325C= (p.Leu109=) n.773C= | |
17 | g.63488737C>G | CA400557973 | ACE | c.2395C>G (p.Leu799Val) c.673C>G (p.Leu225Val) c.*465C>G (n.*465C>G) c.654C>G (n.654C>G) c.*124C>G (n.*124C>G) c.*315C>G (n.*315C>G) c.163C>G (p.Leu55Val) n.341C>G c.1846C>G (p.Leu616Val) c.733C>G (p.Leu245Val) c.1828C>G (p.Leu610Val) c.1543C>G (p.Leu515Val) c.325C>G (p.Leu109Val) n.773C>G | gnomAD v4 |
17 | g.63488737C>T | CA400557972 | ACE | c.2395C>T (p.Leu799Phe) c.673C>T (p.Leu225Phe) c.*465C>T (n.*465C>T) c.654C>T (n.654C>T) c.*124C>T (n.*124C>T) c.*315C>T (n.*315C>T) c.163C>T (p.Leu55Phe) n.341C>T c.1846C>T (p.Leu616Phe) c.733C>T (p.Leu245Phe) c.1828C>T (p.Leu610Phe) c.1543C>T (p.Leu515Phe) c.325C>T (p.Leu109Phe) n.773C>T | dbSNP gnomAD v4 |
17 | g.63488738T>A | CA400557975 | ACE | c.2396T>A (p.Leu799His) c.674T>A (p.Leu225His) c.*466T>A (n.*466T>A) c.655T>A (n.655T>A) c.*125T>A (n.*125T>A) c.*316T>A (n.*316T>A) c.164T>A (p.Leu55His) n.342T>A c.1847T>A (p.Leu616His) c.734T>A (p.Leu245His) c.1829T>A (p.Leu610His) c.1544T>A (p.Leu515His) c.326T>A (p.Leu109His) n.774T>A | |
17 | g.63488738T>C | CA400557976 | ACE | c.2396T>C (p.Leu799Pro) c.674T>C (p.Leu225Pro) c.*466T>C (n.*466T>C) c.655T>C (n.655T>C) c.*125T>C (n.*125T>C) c.*316T>C (n.*316T>C) c.164T>C (p.Leu55Pro) n.342T>C c.1847T>C (p.Leu616Pro) c.734T>C (p.Leu245Pro) c.1829T>C (p.Leu610Pro) c.1544T>C (p.Leu515Pro) c.326T>C (p.Leu109Pro) n.774T>C | dbSNP gnomAD v4 |
17 | g.63488738T>G | CA400557977 | ACE | c.2396T>G (p.Leu799Arg) c.674T>G (p.Leu225Arg) c.*466T>G (n.*466T>G) c.655T>G (n.655T>G) c.*125T>G (n.*125T>G) c.*316T>G (n.*316T>G) c.164T>G (p.Leu55Arg) n.342T>G c.1847T>G (p.Leu616Arg) c.734T>G (p.Leu245Arg) c.1829T>G (p.Leu610Arg) c.1544T>G (p.Leu515Arg) c.326T>G (p.Leu109Arg) n.774T>G | gnomAD v4 |
17 | g.63488738T= | CA2269945974 | ACE | c.2396T= (p.Leu799=) c.674T= (p.Leu225=) c.*466T= (n.*466T=) c.655T= (n.655T=) c.*125T= (n.*125T=) c.*316T= (n.*316T=) c.164T= (p.Leu55=) n.342T= c.1847T= (p.Leu616=) c.734T= (p.Leu245=) c.1829T= (p.Leu610=) c.1544T= (p.Leu515=) c.326T= (p.Leu109=) n.774T= | |
17 | g.63488739C>A | CA501187214 | ACE | c.2397C>A (p.Leu799=) c.675C>A (p.Leu225=) c.*467C>A (n.*467C>A) c.656C>A (n.656C>A) c.*126C>A (n.*126C>A) c.*317C>A (n.*317C>A) c.165C>A (p.Leu55=) n.343C>A c.1848C>A (p.Leu616=) c.735C>A (p.Leu245=) c.1830C>A (p.Leu610=) c.1545C>A (p.Leu515=) c.327C>A (p.Leu109=) n.775C>A | |
17 | g.63488739C>G | CA501187217 | ACE | c.2397C>G (p.Leu799=) c.675C>G (p.Leu225=) c.*467C>G (n.*467C>G) c.656C>G (n.656C>G) c.*126C>G (n.*126C>G) c.*317C>G (n.*317C>G) c.165C>G (p.Leu55=) n.343C>G c.1848C>G (p.Leu616=) c.735C>G (p.Leu245=) c.1830C>G (p.Leu610=) c.1545C>G (p.Leu515=) c.327C>G (p.Leu109=) n.775C>G | |
17 | g.63488739C>T | CA501187222 | ACE | c.2397C>T (p.Leu799=) c.675C>T (p.Leu225=) c.*467C>T (n.*467C>T) c.656C>T (n.656C>T) c.*126C>T (n.*126C>T) c.*317C>T (n.*317C>T) c.165C>T (p.Leu55=) n.343C>T c.1848C>T (p.Leu616=) c.735C>T (p.Leu245=) c.1830C>T (p.Leu610=) c.1545C>T (p.Leu515=) c.327C>T (p.Leu109=) n.775C>T | COSMIC COSMIC COSMIC |
17 | g.63488740C>A | CA400557978 | ACE | c.2398C>A (p.Gln800Lys) c.676C>A (p.Gln226Lys) c.*468C>A (n.*468C>A) c.657C>A (n.657C>A) c.*127C>A (n.*127C>A) c.*318C>A (n.*318C>A) c.166C>A (p.Gln56Lys) n.344C>A c.1849C>A (p.Gln617Lys) c.736C>A (p.Gln246Lys) c.1831C>A (p.Gln611Lys) c.1546C>A (p.Gln516Lys) c.328C>A (p.Gln110Lys) n.776C>A | |
17 | g.63488740C= | CA2269945975 | ACE | c.2398C= (p.Gln800=) c.676C= (p.Gln226=) c.*468C= (n.*468C=) c.657C= (n.657C=) c.*127C= (n.*127C=) c.*318C= (n.*318C=) c.166C= (p.Gln56=) n.344C= c.1849C= (p.Gln617=) c.736C= (p.Gln246=) c.1831C= (p.Gln611=) c.1546C= (p.Gln516=) c.328C= (p.Gln110=) n.776C= | |
17 | g.63488740C>G | CA400557979 | ACE | c.2398C>G (p.Gln800Glu) c.676C>G (p.Gln226Glu) c.*468C>G (n.*468C>G) c.657C>G (n.657C>G) c.*127C>G (n.*127C>G) c.*318C>G (n.*318C>G) c.166C>G (p.Gln56Glu) n.344C>G c.1849C>G (p.Gln617Glu) c.736C>G (p.Gln246Glu) c.1831C>G (p.Gln611Glu) c.1546C>G (p.Gln516Glu) c.328C>G (p.Gln110Glu) n.776C>G | |
17 | g.63488740C>T | CA400557980 | ACE | c.2398C>T (p.Gln800Ter) c.676C>T (p.Gln226Ter) c.*468C>T (n.*468C>T) c.657C>T (n.657C>T) c.*127C>T (n.*127C>T) c.*318C>T (n.*318C>T) c.166C>T (p.Gln56Ter) n.344C>T c.1849C>T (p.Gln617Ter) c.736C>T (p.Gln246Ter) c.1831C>T (p.Gln611Ter) c.1546C>T (p.Gln516Ter) c.328C>T (p.Gln110Ter) n.776C>T | dbSNP |
17 | g.63488741A= | CA2269945976 | ACE | c.2399A= (p.Gln800=) c.677A= (p.Gln226=) c.*469A= (n.*469A=) c.658A= (n.658A=) c.*128A= (n.*128A=) c.*319A= (n.*319A=) c.167A= (p.Gln56=) n.345A= c.1850A= (p.Gln617=) c.737A= (p.Gln246=) c.1832A= (p.Gln611=) c.1547A= (p.Gln516=) c.329A= (p.Gln110=) n.777A= | |
17 | g.63488741A>C | CA400557981 | ACE | c.2399A>C (p.Gln800Pro) c.677A>C (p.Gln226Pro) c.*469A>C (n.*469A>C) c.658A>C (n.658A>C) c.*128A>C (n.*128A>C) c.*319A>C (n.*319A>C) c.167A>C (p.Gln56Pro) n.345A>C c.1850A>C (p.Gln617Pro) c.737A>C (p.Gln246Pro) c.1832A>C (p.Gln611Pro) c.1547A>C (p.Gln516Pro) c.329A>C (p.Gln110Pro) n.777A>C | dbSNP gnomAD v4 |
17 | g.63488741A>G | CA400557983 | ACE | c.2399A>G (p.Gln800Arg) c.677A>G (p.Gln226Arg) c.*469A>G (n.*469A>G) c.658A>G (n.658A>G) c.*128A>G (n.*128A>G) c.*319A>G (n.*319A>G) c.167A>G (p.Gln56Arg) n.345A>G c.1850A>G (p.Gln617Arg) c.737A>G (p.Gln246Arg) c.1832A>G (p.Gln611Arg) c.1547A>G (p.Gln516Arg) c.329A>G (p.Gln110Arg) n.777A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.63488741A>T | CA400557982 | ACE | c.2399A>T (p.Gln800Leu) c.677A>T (p.Gln226Leu) c.*469A>T (n.*469A>T) c.658A>T (n.658A>T) c.*128A>T (n.*128A>T) c.*319A>T (n.*319A>T) c.167A>T (p.Gln56Leu) n.345A>T c.1850A>T (p.Gln617Leu) c.737A>T (p.Gln246Leu) c.1832A>T (p.Gln611Leu) c.1547A>T (p.Gln516Leu) c.329A>T (p.Gln110Leu) n.777A>T | |
17 | g.63488742G>A | CA8700085 | ACE | c.2400G>A (p.Gln800=) c.678G>A (p.Gln226=) c.*470G>A (n.*470G>A) c.659G>A (n.659G>A) c.*129G>A (n.*129G>A) c.*320G>A (n.*320G>A) c.168G>A (p.Gln56=) n.346G>A c.1851G>A (p.Gln617=) c.738G>A (p.Gln246=) c.1833G>A (p.Gln611=) c.1548G>A (p.Gln516=) c.330G>A (p.Gln110=) n.778G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63488742G>C | CA8700084 | ACE | c.2400G>C (p.Gln800His) c.678G>C (p.Gln226His) c.*470G>C (n.*470G>C) c.659G>C (n.659G>C) c.*129G>C (n.*129G>C) c.*320G>C (n.*320G>C) c.168G>C (p.Gln56His) n.346G>C c.1851G>C (p.Gln617His) c.738G>C (p.Gln246His) c.1833G>C (p.Gln611His) c.1548G>C (p.Gln516His) c.330G>C (p.Gln110His) n.778G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63488742G= | CA2269945977 | ACE | c.2400G= (p.Gln800=) c.678G= (p.Gln226=) c.*470G= (n.*470G=) c.659G= (n.659G=) c.*129G= (n.*129G=) c.*320G= (n.*320G=) c.168G= (p.Gln56=) n.346G= c.1851G= (p.Gln617=) c.738G= (p.Gln246=) c.1833G= (p.Gln611=) c.1548G= (p.Gln516=) c.330G= (p.Gln110=) n.778G= | |
17 | g.63488742G>T | CA400557984 | ACE | c.2400G>T (p.Gln800His) c.678G>T (p.Gln226His) c.*470G>T (n.*470G>T) c.659G>T (n.659G>T) c.*129G>T (n.*129G>T) c.*320G>T (n.*320G>T) c.168G>T (p.Gln56His) n.346G>T c.1851G>T (p.Gln617His) c.738G>T (p.Gln246His) c.1833G>T (p.Gln611His) c.1548G>T (p.Gln516His) c.330G>T (p.Gln110His) n.778G>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.63488743T>A | CA400557985 | ACE | c.2401T>A (p.Phe801Ile) c.679T>A (p.Phe227Ile) c.*471T>A (n.*471T>A) c.660T>A (n.660T>A) c.*130T>A (n.*130T>A) c.*321T>A (n.*321T>A) c.169T>A (p.Phe57Ile) n.347T>A c.1852T>A (p.Phe618Ile) c.739T>A (p.Phe247Ile) c.1834T>A (p.Phe612Ile) c.1549T>A (p.Phe517Ile) c.331T>A (p.Phe111Ile) n.779T>A | |
17 | g.63488743T>C | CA400557986 | ACE | c.2401T>C (p.Phe801Leu) c.679T>C (p.Phe227Leu) c.*471T>C (n.*471T>C) c.660T>C (n.660T>C) c.*130T>C (n.*130T>C) c.*321T>C (n.*321T>C) c.169T>C (p.Phe57Leu) n.347T>C c.1852T>C (p.Phe618Leu) c.739T>C (p.Phe247Leu) c.1834T>C (p.Phe612Leu) c.1549T>C (p.Phe517Leu) c.331T>C (p.Phe111Leu) n.779T>C | |
17 | g.63488743T>G | CA400557987 | ACE | c.2401T>G (p.Phe801Val) c.679T>G (p.Phe227Val) c.*471T>G (n.*471T>G) c.660T>G (n.660T>G) c.*130T>G (n.*130T>G) c.*321T>G (n.*321T>G) c.169T>G (p.Phe57Val) n.347T>G c.1852T>G (p.Phe618Val) c.739T>G (p.Phe247Val) c.1834T>G (p.Phe612Val) c.1549T>G (p.Phe517Val) c.331T>G (p.Phe111Val) n.779T>G | |
17 | g.63488744T>A | CA400557988 | ACE | c.2402T>A (p.Phe801Tyr) c.680T>A (p.Phe227Tyr) c.*472T>A (n.*472T>A) c.661T>A (n.661T>A) c.*131T>A (n.*131T>A) c.*322T>A (n.*322T>A) c.170T>A (p.Phe57Tyr) n.348T>A c.1853T>A (p.Phe618Tyr) c.740T>A (p.Phe247Tyr) c.1835T>A (p.Phe612Tyr) c.1550T>A (p.Phe517Tyr) c.332T>A (p.Phe111Tyr) n.780T>A | |
17 | g.63488744T>C | CA400557989 | ACE | c.2402T>C (p.Phe801Ser) c.680T>C (p.Phe227Ser) c.*472T>C (n.*472T>C) c.661T>C (n.661T>C) c.*131T>C (n.*131T>C) c.*322T>C (n.*322T>C) c.170T>C (p.Phe57Ser) n.348T>C c.1853T>C (p.Phe618Ser) c.740T>C (p.Phe247Ser) c.1835T>C (p.Phe612Ser) c.1550T>C (p.Phe517Ser) c.332T>C (p.Phe111Ser) n.780T>C | dbSNP |
17 | g.63488744T>G | CA400557990 | ACE | c.2402T>G (p.Phe801Cys) c.680T>G (p.Phe227Cys) c.*472T>G (n.*472T>G) c.661T>G (n.661T>G) c.*131T>G (n.*131T>G) c.*322T>G (n.*322T>G) c.170T>G (p.Phe57Cys) n.348T>G c.1853T>G (p.Phe618Cys) c.740T>G (p.Phe247Cys) c.1835T>G (p.Phe612Cys) c.1550T>G (p.Phe517Cys) c.332T>G (p.Phe111Cys) n.780T>G | |
17 | g.63488744T= | CA2269945978 | ACE | c.2402T= (p.Phe801=) c.680T= (p.Phe227=) c.*472T= (n.*472T=) c.661T= (n.661T=) c.*131T= (n.*131T=) c.*322T= (n.*322T=) c.170T= (p.Phe57=) n.348T= c.1853T= (p.Phe618=) c.740T= (p.Phe247=) c.1835T= (p.Phe612=) c.1550T= (p.Phe517=) c.332T= (p.Phe111=) n.780T= |