UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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= |