| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |